Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.224503677delCA539863150CUL3c.1358del (p.Asn453ThrfsTer2)
c.1160del (p.Asn387ThrfsTer2)
c.1286del (p.Asn429ThrfsTer2)
n.654del
c.80del
c.1376del (p.Asn459ThrfsTer2)
c.1325del (p.Asn442ThrfsTer2)
c.1211del (p.Asn404ThrfsTer2)
c.1316del (p.Asn439ThrfsTer2)
c.1166del (p.Asn389ThrfsTer2)
c.1058del (p.Asn353ThrfsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.224503672T>ACA350826955CUL3c.1357A>T (p.Asn453Tyr)
c.1159A>T (p.Asn387Tyr)
c.1285A>T (p.Asn429Tyr)
n.653A>T
c.79A>T (p.Asn27Tyr)
c.1375A>T (p.Asn459Tyr)
c.1324A>T (p.Asn442Tyr)
c.1210A>T (p.Asn404Tyr)
c.1315A>T (p.Asn439Tyr)
c.1165A>T (p.Asn389Tyr)
c.1057A>T (p.Asn353Tyr)
2g.224503672T>CCA350826956CUL3c.1357A>G (p.Asn453Asp)
c.1159A>G (p.Asn387Asp)
c.1285A>G (p.Asn429Asp)
n.653A>G
c.79A>G (p.Asn27Asp)
c.1375A>G (p.Asn459Asp)
c.1324A>G (p.Asn442Asp)
c.1210A>G (p.Asn404Asp)
c.1315A>G (p.Asn439Asp)
c.1165A>G (p.Asn389Asp)
c.1057A>G (p.Asn353Asp)
 dbSNP
2g.224503672T>GCA350826958CUL3c.1357A>C (p.Asn453His)
c.1159A>C (p.Asn387His)
c.1285A>C (p.Asn429His)
n.653A>C
c.79A>C (p.Asn27His)
c.1375A>C (p.Asn459His)
c.1324A>C (p.Asn442His)
c.1210A>C (p.Asn404His)
c.1315A>C (p.Asn439His)
c.1165A>C (p.Asn389His)
c.1057A>C (p.Asn353His)
2g.224503673T>ACA350826960CUL3c.1356A>T (p.Lys452Asn)
c.1158A>T (p.Lys386Asn)
c.1284A>T (p.Lys428Asn)
n.652A>T
c.79-1A>T (n.79-1A>T)
c.1374A>T (p.Lys458Asn)
c.1323A>T (p.Lys441Asn)
c.1209A>T (p.Lys403Asn)
c.1314A>T (p.Lys438Asn)
c.1164A>T (p.Lys388Asn)
c.1056A>T (p.Lys352Asn)
2g.224503673T>CCA350826970CUL3c.1356A>G (p.Lys452=)
c.1158A>G (p.Lys386=)
c.1284A>G (p.Lys428=)
n.652A>G
c.79-1A>G (n.79-1A>G)
c.1374A>G (p.Lys458=)
c.1323A>G (p.Lys441=)
c.1209A>G (p.Lys403=)
c.1314A>G (p.Lys438=)
c.1164A>G (p.Lys388=)
c.1056A>G (p.Lys352=)
 dbSNP
2g.224503673T>GCA350826973CUL3c.1356A>C (p.Lys452Asn)
c.1158A>C (p.Lys386Asn)
c.1284A>C (p.Lys428Asn)
n.652A>C
c.79-1A>C (n.79-1A>C)
c.1374A>C (p.Lys458Asn)
c.1323A>C (p.Lys441Asn)
c.1209A>C (p.Lys403Asn)
c.1314A>C (p.Lys438Asn)
c.1164A>C (p.Lys388Asn)
c.1056A>C (p.Lys352Asn)
2g.224503673T=CA1331555927CUL3c.1356A= (p.Lys452=)
c.1158A= (p.Lys386=)
c.1284A= (p.Lys428=)
n.652A=
c.79-1A= (n.79-1A=)
c.1374A= (p.Lys458=)
c.1323A= (p.Lys441=)
c.1209A= (p.Lys403=)
c.1314A= (p.Lys438=)
c.1164A= (p.Lys388=)
c.1056A= (p.Lys352=)
2g.224503674T>ACA350826978CUL3c.1355A>T (p.Lys452Ile)
c.1157A>T (p.Lys386Ile)
c.1283A>T (p.Lys428Ile)
n.651A>T
c.79-2A>T (n.79-2A>T)
c.1373A>T (p.Lys458Ile)
c.1322A>T (p.Lys441Ile)
c.1208A>T (p.Lys403Ile)
c.1313A>T (p.Lys438Ile)
c.1163A>T (p.Lys388Ile)
c.1055A>T (p.Lys352Ile)
2g.224503674T>CCA350826980CUL3c.1355A>G (p.Lys452Arg)
c.1157A>G (p.Lys386Arg)
c.1283A>G (p.Lys428Arg)
n.651A>G
c.79-2A>G (n.79-2A>G)
c.1373A>G (p.Lys458Arg)
c.1322A>G (p.Lys441Arg)
c.1208A>G (p.Lys403Arg)
c.1313A>G (p.Lys438Arg)
c.1163A>G (p.Lys388Arg)
c.1055A>G (p.Lys352Arg)
2g.224503674T>GCA350826976CUL3c.1355A>C (p.Lys452Thr)
c.1157A>C (p.Lys386Thr)
c.1283A>C (p.Lys428Thr)
n.651A>C
c.79-2A>C (n.79-2A>C)
c.1373A>C (p.Lys458Thr)
c.1322A>C (p.Lys441Thr)
c.1208A>C (p.Lys403Thr)
c.1313A>C (p.Lys438Thr)
c.1163A>C (p.Lys388Thr)
c.1055A>C (p.Lys352Thr)
2g.224503675T>ACA350826984CUL3c.1354A>T (p.Lys452Ter)
c.1156A>T (p.Lys386Ter)
c.1282A>T (p.Lys428Ter)
n.650A>T
c.78A>T (p.Lys26Asn)
c.1372A>T (p.Lys458Ter)
c.1321A>T (p.Lys441Ter)
c.1207A>T (p.Lys403Ter)
c.1312A>T (p.Lys438Ter)
c.1162A>T (p.Lys388Ter)
c.1054A>T (p.Lys352Ter)
 dbSNP
2g.224503675T>CCA350826982CUL3c.1354A>G (p.Lys452Glu)
c.1156A>G (p.Lys386Glu)
c.1282A>G (p.Lys428Glu)
n.650A>G
c.78A>G (p.Lys26=)
c.1372A>G (p.Lys458Glu)
c.1321A>G (p.Lys441Glu)
c.1207A>G (p.Lys403Glu)
c.1312A>G (p.Lys438Glu)
c.1162A>G (p.Lys388Glu)
c.1054A>G (p.Lys352Glu)
 COSMIC
2g.224503675T>GCA350826983CUL3c.1354A>C (p.Lys452Gln)
c.1156A>C (p.Lys386Gln)
c.1282A>C (p.Lys428Gln)
n.650A>C
c.78A>C (p.Lys26Asn)
c.1372A>C (p.Lys458Gln)
c.1321A>C (p.Lys441Gln)
c.1207A>C (p.Lys403Gln)
c.1312A>C (p.Lys438Gln)
c.1162A>C (p.Lys388Gln)
c.1054A>C (p.Lys352Gln)
2g.224503676T>ACA350826986CUL3c.1353A>T (p.Glu451Asp)
c.1155A>T (p.Glu385Asp)
c.1281A>T (p.Glu427Asp)
n.649A>T
c.77A>T (p.Lys26Ile)
c.1371A>T (p.Glu457Asp)
c.1320A>T (p.Glu440Asp)
c.1206A>T (p.Glu402Asp)
c.1311A>T (p.Glu437Asp)
c.1161A>T (p.Glu387Asp)
c.1053A>T (p.Glu351Asp)
2g.224503676T>CCA350826987CUL3c.1353A>G (p.Glu451=)
c.1155A>G (p.Glu385=)
c.1281A>G (p.Glu427=)
n.649A>G
c.77A>G (p.Lys26Arg)
c.1371A>G (p.Glu457=)
c.1320A>G (p.Glu440=)
c.1206A>G (p.Glu402=)
c.1311A>G (p.Glu437=)
c.1161A>G (p.Glu387=)
c.1053A>G (p.Glu351=)
2g.224503676T>GCA350826990CUL3c.1353A>C (p.Glu451Asp)
c.1155A>C (p.Glu385Asp)
c.1281A>C (p.Glu427Asp)
n.649A>C
c.77A>C (p.Lys26Thr)
c.1371A>C (p.Glu457Asp)
c.1320A>C (p.Glu440Asp)
c.1206A>C (p.Glu402Asp)
c.1311A>C (p.Glu437Asp)
c.1161A>C (p.Glu387Asp)
c.1053A>C (p.Glu351Asp)
2g.224503677T>ACA350826992CUL3c.1352A>T (p.Glu451Val)
c.1154A>T (p.Glu385Val)
c.1280A>T (p.Glu427Val)
n.648A>T
c.76A>T (p.Lys26Ter)
c.1370A>T (p.Glu457Val)
c.1319A>T (p.Glu440Val)
c.1205A>T (p.Glu402Val)
c.1310A>T (p.Glu437Val)
c.1160A>T (p.Glu387Val)
c.1052A>T (p.Glu351Val)
 dbSNP
2g.224503677T>CCA350826993CUL3c.1352A>G (p.Glu451Gly)
c.1154A>G (p.Glu385Gly)
c.1280A>G (p.Glu427Gly)
n.648A>G
c.76A>G (p.Lys26Glu)
c.1370A>G (p.Glu457Gly)
c.1319A>G (p.Glu440Gly)
c.1205A>G (p.Glu402Gly)
c.1310A>G (p.Glu437Gly)
c.1160A>G (p.Glu387Gly)
c.1052A>G (p.Glu351Gly)
2g.224503677T>GCA350826995CUL3c.1352A>C (p.Glu451Ala)
c.1154A>C (p.Glu385Ala)
c.1280A>C (p.Glu427Ala)
n.648A>C
c.76A>C (p.Lys26Gln)
c.1370A>C (p.Glu457Ala)
c.1319A>C (p.Glu440Ala)
c.1205A>C (p.Glu402Ala)
c.1310A>C (p.Glu437Ala)
c.1160A>C (p.Glu387Ala)
c.1052A>C (p.Glu351Ala)
2g.224503678C>ACA350826997CUL3c.1351G>T (p.Glu451Ter)
c.1153G>T (p.Glu385Ter)
c.1279G>T (p.Glu427Ter)
n.647G>T
c.75G>T (p.Leu25=)
c.1369G>T (p.Glu457Ter)
c.1318G>T (p.Glu440Ter)
c.1204G>T (p.Glu402Ter)
c.1309G>T (p.Glu437Ter)
c.1159G>T (p.Glu387Ter)
c.1051G>T (p.Glu351Ter)
 ClinVar
2g.224503678C>GCA350826999CUL3c.1351G>C (p.Glu451Gln)
c.1153G>C (p.Glu385Gln)
c.1279G>C (p.Glu427Gln)
n.647G>C
c.75G>C (p.Leu25=)
c.1369G>C (p.Glu457Gln)
c.1318G>C (p.Glu440Gln)
c.1204G>C (p.Glu402Gln)
c.1309G>C (p.Glu437Gln)
c.1159G>C (p.Glu387Gln)
c.1051G>C (p.Glu351Gln)
 dbSNP
2g.224503678C>TCA350827001CUL3c.1351G>A (p.Glu451Lys)
c.1153G>A (p.Glu385Lys)
c.1279G>A (p.Glu427Lys)
n.647G>A
c.75G>A (p.Leu25=)
c.1369G>A (p.Glu457Lys)
c.1318G>A (p.Glu440Lys)
c.1204G>A (p.Glu402Lys)
c.1309G>A (p.Glu437Lys)
c.1159G>A (p.Glu387Lys)
c.1051G>A (p.Glu351Lys)
 dbSNP
2g.224503678_224503680delinsCAGCA1331555928CUL3c.1349_1351delinsCTG (p.Ser450=)
c.1151_1153delinsCTG (p.Ser384=)
c.1277_1279delinsCTG (p.Ser426=)
n.645_647delinsCTG
c.73_75delinsCTG (p.Leu25=)
c.1367_1369delinsCTG (p.Ser456=)
c.1316_1318delinsCTG (p.Ser439=)
c.1202_1204delinsCTG (p.Ser401=)
c.1307_1309delinsCTG (p.Ser436=)
c.1157_1159delinsCTG (p.Ser386=)
c.1049_1051delinsCTG (p.Ser350=)
2g.224503679A>CCA350827006CUL3c.1350T>G (p.Ser450=)
c.1152T>G (p.Ser384=)
c.1278T>G (p.Ser426=)
n.646T>G
c.74T>G (p.Leu25Arg)
c.1368T>G (p.Ser456=)
c.1317T>G (p.Ser439=)
c.1203T>G (p.Ser401=)
c.1308T>G (p.Ser436=)
c.1158T>G (p.Ser386=)
c.1050T>G (p.Ser350=)
2g.224503679A>GCA350827005CUL3c.1350T>C (p.Ser450=)
c.1152T>C (p.Ser384=)
c.1278T>C (p.Ser426=)
n.646T>C
c.74T>C (p.Leu25Pro)
c.1368T>C (p.Ser456=)
c.1317T>C (p.Ser439=)
c.1203T>C (p.Ser401=)
c.1308T>C (p.Ser436=)
c.1158T>C (p.Ser386=)
c.1050T>C (p.Ser350=)
 dbSNP gnomAD v4
2g.224503679A>TCA350827004CUL3c.1350T>A (p.Ser450=)
c.1152T>A (p.Ser384=)
c.1278T>A (p.Ser426=)
n.646T>A
c.74T>A (p.Leu25Gln)
c.1368T>A (p.Ser456=)
c.1317T>A (p.Ser439=)
c.1203T>A (p.Ser401=)
c.1308T>A (p.Ser436=)
c.1158T>A (p.Ser386=)
c.1050T>A (p.Ser350=)
 dbSNP
2g.224503681_224503682delCA658796188CUL3c.1349_1350del (p.Ser450Ter)
c.1151_1152del (p.Ser384Ter)
c.1277_1278del (p.Ser426Ter)
n.645_646del
c.73_74del (p.Leu25GlufsTer6)
c.1367_1368del (p.Ser456Ter)
c.1316_1317del (p.Ser439Ter)
c.1202_1203del (p.Ser401Ter)
c.1307_1308del (p.Ser436Ter)
c.1157_1158del (p.Ser386Ter)
c.1049_1050del (p.Ser350Ter)
 ClinVar dbSNP gnomAD v4
2g.224503680delCA2580616714CUL3c.1349del (p.Ser450LeufsTer5)
c.1151del (p.Ser384LeufsTer5)
c.1277del (p.Ser426LeufsTer5)
n.645del
c.73del (p.Leu25Ter)
c.1367del (p.Ser456LeufsTer5)
c.1316del (p.Ser439LeufsTer5)
c.1202del (p.Ser401LeufsTer5)
c.1307del (p.Ser436LeufsTer5)
c.1157del (p.Ser386LeufsTer5)
c.1049del (p.Ser350LeufsTer5)
 ClinVar
2g.224503680G>ACA350827009CUL3c.1349C>T (p.Ser450Phe)
c.1151C>T (p.Ser384Phe)
c.1277C>T (p.Ser426Phe)
n.645C>T
c.73C>T (p.Leu25=)
c.1367C>T (p.Ser456Phe)
c.1316C>T (p.Ser439Phe)
c.1202C>T (p.Ser401Phe)
c.1307C>T (p.Ser436Phe)
c.1157C>T (p.Ser386Phe)
c.1049C>T (p.Ser350Phe)
 ClinVar dbSNP
2g.224503680G>CCA350827011CUL3c.1349C>G (p.Ser450Cys)
c.1151C>G (p.Ser384Cys)
c.1277C>G (p.Ser426Cys)
n.645C>G
c.73C>G (p.Leu25Val)
c.1367C>G (p.Ser456Cys)
c.1316C>G (p.Ser439Cys)
c.1202C>G (p.Ser401Cys)
c.1307C>G (p.Ser436Cys)
c.1157C>G (p.Ser386Cys)
c.1049C>G (p.Ser350Cys)
 dbSNP
2g.224503680G>TCA350827012CUL3c.1349C>A (p.Ser450Tyr)
c.1151C>A (p.Ser384Tyr)
c.1277C>A (p.Ser426Tyr)
n.645C>A
c.73C>A (p.Leu25Met)
c.1367C>A (p.Ser456Tyr)
c.1316C>A (p.Ser439Tyr)
c.1202C>A (p.Ser401Tyr)
c.1307C>A (p.Ser436Tyr)
c.1157C>A (p.Ser386Tyr)
c.1049C>A (p.Ser350Tyr)
 dbSNP
2g.224503681A=CA1331555929CUL3c.1348T= (p.Ser450=)
c.1150T= (p.Ser384=)
c.1276T= (p.Ser426=)
n.644T=
c.72T= (p.Thr24=)
c.1366T= (p.Ser456=)
c.1315T= (p.Ser439=)
c.1201T= (p.Ser401=)
c.1306T= (p.Ser436=)
c.1156T= (p.Ser386=)
c.1048T= (p.Ser350=)
2g.224503681A>CCA350827014CUL3c.1348T>G (p.Ser450Ala)
c.1150T>G (p.Ser384Ala)
c.1276T>G (p.Ser426Ala)
n.644T>G
c.72T>G (p.Thr24=)
c.1366T>G (p.Ser456Ala)
c.1315T>G (p.Ser439Ala)
c.1201T>G (p.Ser401Ala)
c.1306T>G (p.Ser436Ala)
c.1156T>G (p.Ser386Ala)
c.1048T>G (p.Ser350Ala)
2g.224503681A>GCA350827016CUL3c.1348T>C (p.Ser450Pro)
c.1150T>C (p.Ser384Pro)
c.1276T>C (p.Ser426Pro)
n.644T>C
c.72T>C (p.Thr24=)
c.1366T>C (p.Ser456Pro)
c.1315T>C (p.Ser439Pro)
c.1201T>C (p.Ser401Pro)
c.1306T>C (p.Ser436Pro)
c.1156T>C (p.Ser386Pro)
c.1048T>C (p.Ser350Pro)
2g.224503681A>TCA350827018CUL3c.1348T>A (p.Ser450Thr)
c.1150T>A (p.Ser384Thr)
c.1276T>A (p.Ser426Thr)
n.644T>A
c.72T>A (p.Thr24=)
c.1366T>A (p.Ser456Thr)
c.1315T>A (p.Ser439Thr)
c.1201T>A (p.Ser401Thr)
c.1306T>A (p.Ser436Thr)
c.1156T>A (p.Ser386Thr)
c.1048T>A (p.Ser350Thr)
 dbSNP
2g.224503682_224503694delCA2663372488CUL3c.1336_1348del (p.Val446LeufsTer5)
c.1138_1150del (p.Val380LeufsTer5)
c.1264_1276del (p.Val422LeufsTer5)
n.632_644del
c.60_72del (p.Phe21Ter)
c.1354_1366del (p.Val452LeufsTer5)
c.1303_1315del (p.Val435LeufsTer5)
c.1189_1201del (p.Val397LeufsTer5)
c.1294_1306del (p.Val432LeufsTer5)
c.1144_1156del (p.Val382LeufsTer5)
c.1036_1048del (p.Val346LeufsTer5)
 gnomAD v4
2g.224503682G>ACA2140016CUL3c.1347C>T (p.Asp449=)
c.1149C>T (p.Asp383=)
c.1275C>T (p.Asp425=)
n.643C>T
c.71C>T (p.Thr24Ile)
c.1365C>T (p.Asp455=)
c.1314C>T (p.Asp438=)
c.1200C>T (p.Asp400=)
c.1305C>T (p.Asp435=)
c.1155C>T (p.Asp385=)
c.1047C>T (p.Asp349=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503682G>CCA350827024CUL3c.1347C>G (p.Asp449Glu)
c.1149C>G (p.Asp383Glu)
c.1275C>G (p.Asp425Glu)
n.643C>G
c.71C>G (p.Thr24Ser)
c.1365C>G (p.Asp455Glu)
c.1314C>G (p.Asp438Glu)
c.1200C>G (p.Asp400Glu)
c.1305C>G (p.Asp435Glu)
c.1155C>G (p.Asp385Glu)
c.1047C>G (p.Asp349Glu)
 dbSNP
2g.224503682G=CA1331555930CUL3c.1347C= (p.Asp449=)
c.1149C= (p.Asp383=)
c.1275C= (p.Asp425=)
n.643C=
c.71C= (p.Thr24=)
c.1365C= (p.Asp455=)
c.1314C= (p.Asp438=)
c.1200C= (p.Asp400=)
c.1305C= (p.Asp435=)
c.1155C= (p.Asp385=)
c.1047C= (p.Asp349=)
2g.224503682G>TCA350827026CUL3c.1347C>A (p.Asp449Glu)
c.1149C>A (p.Asp383Glu)
c.1275C>A (p.Asp425Glu)
n.643C>A
c.71C>A (p.Thr24Asn)
c.1365C>A (p.Asp455Glu)
c.1314C>A (p.Asp438Glu)
c.1200C>A (p.Asp400Glu)
c.1305C>A (p.Asp435Glu)
c.1155C>A (p.Asp385Glu)
c.1047C>A (p.Asp349Glu)
2g.224503683T>ACA350827029CUL3c.1346A>T (p.Asp449Val)
c.1148A>T (p.Asp383Val)
c.1274A>T (p.Asp425Val)
n.642A>T
c.70A>T (p.Thr24Ser)
c.1364A>T (p.Asp455Val)
c.1313A>T (p.Asp438Val)
c.1199A>T (p.Asp400Val)
c.1304A>T (p.Asp435Val)
c.1154A>T (p.Asp385Val)
c.1046A>T (p.Asp349Val)
 dbSNP
2g.224503683T>CCA350827030CUL3c.1346A>G (p.Asp449Gly)
c.1148A>G (p.Asp383Gly)
c.1274A>G (p.Asp425Gly)
n.642A>G
c.70A>G (p.Thr24Ala)
c.1364A>G (p.Asp455Gly)
c.1313A>G (p.Asp438Gly)
c.1199A>G (p.Asp400Gly)
c.1304A>G (p.Asp435Gly)
c.1154A>G (p.Asp385Gly)
c.1046A>G (p.Asp349Gly)
 dbSNP
2g.224503683T>GCA350827032CUL3c.1346A>C (p.Asp449Ala)
c.1148A>C (p.Asp383Ala)
c.1274A>C (p.Asp425Ala)
n.642A>C
c.70A>C (p.Thr24Pro)
c.1364A>C (p.Asp455Ala)
c.1313A>C (p.Asp438Ala)
c.1199A>C (p.Asp400Ala)
c.1304A>C (p.Asp435Ala)
c.1154A>C (p.Asp385Ala)
c.1046A>C (p.Asp349Ala)
2g.224503684C>ACA350827037CUL3c.1345G>T (p.Asp449Tyr)
c.1147G>T (p.Asp383Tyr)
c.1273G>T (p.Asp425Tyr)
n.641G>T
c.69G>T (p.Met23Ile)
c.1363G>T (p.Asp455Tyr)
c.1312G>T (p.Asp438Tyr)
c.1198G>T (p.Asp400Tyr)
c.1303G>T (p.Asp435Tyr)
c.1153G>T (p.Asp385Tyr)
c.1045G>T (p.Asp349Tyr)
 dbSNP gnomAD v4
2g.224503684C>GCA350827039CUL3c.1345G>C (p.Asp449His)
c.1147G>C (p.Asp383His)
c.1273G>C (p.Asp425His)
n.641G>C
c.69G>C (p.Met23Ile)
c.1363G>C (p.Asp455His)
c.1312G>C (p.Asp438His)
c.1198G>C (p.Asp400His)
c.1303G>C (p.Asp435His)
c.1153G>C (p.Asp385His)
c.1045G>C (p.Asp349His)
 dbSNP
2g.224503684C>TCA350827035CUL3c.1345G>A (p.Asp449Asn)
c.1147G>A (p.Asp383Asn)
c.1273G>A (p.Asp425Asn)
n.641G>A
c.69G>A (p.Met23Ile)
c.1363G>A (p.Asp455Asn)
c.1312G>A (p.Asp438Asn)
c.1198G>A (p.Asp400Asn)
c.1303G>A (p.Asp435Asn)
c.1153G>A (p.Asp385Asn)
c.1045G>A (p.Asp349Asn)
 dbSNP
2g.224503685A>CCA350827042CUL3c.1344T>G (p.Asp448Glu)
c.1146T>G (p.Asp382Glu)
c.1272T>G (p.Asp424Glu)
n.640T>G
c.68T>G (p.Met23Arg)
c.1362T>G (p.Asp454Glu)
c.1311T>G (p.Asp437Glu)
c.1197T>G (p.Asp399Glu)
c.1302T>G (p.Asp434Glu)
c.1152T>G (p.Asp384Glu)
c.1044T>G (p.Asp348Glu)
2g.224503685A>GCA350827048CUL3c.1344T>C (p.Asp448=)
c.1146T>C (p.Asp382=)
c.1272T>C (p.Asp424=)
n.640T>C
c.68T>C (p.Met23Thr)
c.1362T>C (p.Asp454=)
c.1311T>C (p.Asp437=)
c.1197T>C (p.Asp399=)
c.1302T>C (p.Asp434=)
c.1152T>C (p.Asp384=)
c.1044T>C (p.Asp348=)
 gnomAD v4
2g.224503685A>TCA350827050CUL3c.1344T>A (p.Asp448Glu)
c.1146T>A (p.Asp382Glu)
c.1272T>A (p.Asp424Glu)
n.640T>A
c.68T>A (p.Met23Lys)
c.1362T>A (p.Asp454Glu)
c.1311T>A (p.Asp437Glu)
c.1197T>A (p.Asp399Glu)
c.1302T>A (p.Asp434Glu)
c.1152T>A (p.Asp384Glu)
c.1044T>A (p.Asp348Glu)
 dbSNP
2g.224503686T>ACA350827053CUL3c.1343A>T (p.Asp448Val)
c.1145A>T (p.Asp382Val)
c.1271A>T (p.Asp424Val)
n.639A>T
c.67A>T (p.Met23Leu)
c.1361A>T (p.Asp454Val)
c.1310A>T (p.Asp437Val)
c.1196A>T (p.Asp399Val)
c.1301A>T (p.Asp434Val)
c.1151A>T (p.Asp384Val)
c.1043A>T (p.Asp348Val)
 dbSNP
2g.224503686T>CCA350827054CUL3c.1343A>G (p.Asp448Gly)
c.1145A>G (p.Asp382Gly)
c.1271A>G (p.Asp424Gly)
n.639A>G
c.67A>G (p.Met23Val)
c.1361A>G (p.Asp454Gly)
c.1310A>G (p.Asp437Gly)
c.1196A>G (p.Asp399Gly)
c.1301A>G (p.Asp434Gly)
c.1151A>G (p.Asp384Gly)
c.1043A>G (p.Asp348Gly)
 dbSNP
2g.224503686T>GCA350827057CUL3c.1343A>C (p.Asp448Ala)
c.1145A>C (p.Asp382Ala)
c.1271A>C (p.Asp424Ala)
n.639A>C
c.67A>C (p.Met23Leu)
c.1361A>C (p.Asp454Ala)
c.1310A>C (p.Asp437Ala)
c.1196A>C (p.Asp399Ala)
c.1301A>C (p.Asp434Ala)
c.1151A>C (p.Asp384Ala)
c.1043A>C (p.Asp348Ala)
2g.224503687C>ACA350827060CUL3c.1342G>T (p.Asp448Tyr)
c.1144G>T (p.Asp382Tyr)
c.1270G>T (p.Asp424Tyr)
n.638G>T
c.66G>T (p.Leu22=)
c.1360G>T (p.Asp454Tyr)
c.1309G>T (p.Asp437Tyr)
c.1195G>T (p.Asp399Tyr)
c.1300G>T (p.Asp434Tyr)
c.1150G>T (p.Asp384Tyr)
c.1042G>T (p.Asp348Tyr)
 dbSNP gnomAD v4
2g.224503687C>GCA350827062CUL3c.1342G>C (p.Asp448His)
c.1144G>C (p.Asp382His)
c.1270G>C (p.Asp424His)
n.638G>C
c.66G>C (p.Leu22=)
c.1360G>C (p.Asp454His)
c.1309G>C (p.Asp437His)
c.1195G>C (p.Asp399His)
c.1300G>C (p.Asp434His)
c.1150G>C (p.Asp384His)
c.1042G>C (p.Asp348His)
 dbSNP
2g.224503687C>TCA350827064CUL3c.1342G>A (p.Asp448Asn)
c.1144G>A (p.Asp382Asn)
c.1270G>A (p.Asp424Asn)
n.638G>A
c.66G>A (p.Leu22=)
c.1360G>A (p.Asp454Asn)
c.1309G>A (p.Asp437Asn)
c.1195G>A (p.Asp399Asn)
c.1300G>A (p.Asp434Asn)
c.1150G>A (p.Asp384Asn)
c.1042G>A (p.Asp348Asn)
 dbSNP
2g.224503688A=CA1331555931CUL3c.1341T= (p.Ser447=)
c.1143T= (p.Ser381=)
c.1269T= (p.Ser423=)
n.637T=
c.65T= (p.Leu22=)
c.1359T= (p.Ser453=)
c.1308T= (p.Ser436=)
c.1194T= (p.Ser398=)
c.1299T= (p.Ser433=)
c.1149T= (p.Ser383=)
c.1041T= (p.Ser347=)
2g.224503688A>CCA350827066CUL3c.1341T>G (p.Ser447=)
c.1143T>G (p.Ser381=)
c.1269T>G (p.Ser423=)
n.637T>G
c.65T>G (p.Leu22Arg)
c.1359T>G (p.Ser453=)
c.1308T>G (p.Ser436=)
c.1194T>G (p.Ser398=)
c.1299T>G (p.Ser433=)
c.1149T>G (p.Ser383=)
c.1041T>G (p.Ser347=)
 dbSNP gnomAD v2 gnomAD v4
2g.224503688A>GCA350827068CUL3c.1341T>C (p.Ser447=)
c.1143T>C (p.Ser381=)
c.1269T>C (p.Ser423=)
n.637T>C
c.65T>C (p.Leu22Pro)
c.1359T>C (p.Ser453=)
c.1308T>C (p.Ser436=)
c.1194T>C (p.Ser398=)
c.1299T>C (p.Ser433=)
c.1149T>C (p.Ser383=)
c.1041T>C (p.Ser347=)
 gnomAD v4
2g.224503688A>TCA350827071CUL3c.1341T>A (p.Ser447=)
c.1143T>A (p.Ser381=)
c.1269T>A (p.Ser423=)
n.637T>A
c.65T>A (p.Leu22Gln)
c.1359T>A (p.Ser453=)
c.1308T>A (p.Ser436=)
c.1194T>A (p.Ser398=)
c.1299T>A (p.Ser433=)
c.1149T>A (p.Ser383=)
c.1041T>A (p.Ser347=)
 dbSNP
2g.224503688_224503715delinsTGTGAGACA2580617718CUL3c.1314_1341delinsTCTCACA (p.Arg438_Ser447delinsSerLeuThr)
c.1116_1143delinsTCTCACA (p.Arg372_Ser381delinsSerLeuThr)
c.1242_1269delinsTCTCACA (p.Arg414_Ser423delinsSerLeuThr)
n.610_637delinsTCTCACA
c.38_65delinsTCTCACA (p.Gly13_Leu22delinsValSerGln)
c.1332_1359delinsTCTCACA (p.Arg444_Ser453delinsSerLeuThr)
c.1281_1308delinsTCTCACA (p.Arg427_Ser436delinsSerLeuThr)
c.1167_1194delinsTCTCACA (p.Arg389_Ser398delinsSerLeuThr)
c.1272_1299delinsTCTCACA (p.Arg424_Ser433delinsSerLeuThr)
c.1122_1149delinsTCTCACA (p.Arg374_Ser383delinsSerLeuThr)
c.1014_1041delinsTCTCACA (p.Arg338_Ser347delinsSerLeuThr)
 ClinVar
2g.224503689G>ACA350827077CUL3c.1340C>T (p.Ser447Phe)
c.1142C>T (p.Ser381Phe)
c.1268C>T (p.Ser423Phe)
n.636C>T
c.64C>T (p.Leu22=)
c.1358C>T (p.Ser453Phe)
c.1307C>T (p.Ser436Phe)
c.1193C>T (p.Ser398Phe)
c.1298C>T (p.Ser433Phe)
c.1148C>T (p.Ser383Phe)
c.1040C>T (p.Ser347Phe)
 ClinVar dbSNP
2g.224503689G>CCA350827081CUL3c.1340C>G (p.Ser447Cys)
c.1142C>G (p.Ser381Cys)
c.1268C>G (p.Ser423Cys)
n.636C>G
c.64C>G (p.Leu22Val)
c.1358C>G (p.Ser453Cys)
c.1307C>G (p.Ser436Cys)
c.1193C>G (p.Ser398Cys)
c.1298C>G (p.Ser433Cys)
c.1148C>G (p.Ser383Cys)
c.1040C>G (p.Ser347Cys)
 dbSNP
2g.224503689G>TCA350827074CUL3c.1340C>A (p.Ser447Tyr)
c.1142C>A (p.Ser381Tyr)
c.1268C>A (p.Ser423Tyr)
n.636C>A
c.64C>A (p.Leu22Met)
c.1358C>A (p.Ser453Tyr)
c.1307C>A (p.Ser436Tyr)
c.1193C>A (p.Ser398Tyr)
c.1298C>A (p.Ser433Tyr)
c.1148C>A (p.Ser383Tyr)
c.1040C>A (p.Ser347Tyr)
2g.224503690A>CCA350827083CUL3c.1339T>G (p.Ser447Ala)
c.1141T>G (p.Ser381Ala)
c.1267T>G (p.Ser423Ala)
n.635T>G
c.63T>G (p.Phe21Leu)
c.1357T>G (p.Ser453Ala)
c.1306T>G (p.Ser436Ala)
c.1192T>G (p.Ser398Ala)
c.1297T>G (p.Ser433Ala)
c.1147T>G (p.Ser383Ala)
c.1039T>G (p.Ser347Ala)
2g.224503690A>GCA350827086CUL3c.1339T>C (p.Ser447Pro)
c.1141T>C (p.Ser381Pro)
c.1267T>C (p.Ser423Pro)
n.635T>C
c.63T>C (p.Phe21=)
c.1357T>C (p.Ser453Pro)
c.1306T>C (p.Ser436Pro)
c.1192T>C (p.Ser398Pro)
c.1297T>C (p.Ser433Pro)
c.1147T>C (p.Ser383Pro)
c.1039T>C (p.Ser347Pro)
2g.224503690A>TCA350827088CUL3c.1339T>A (p.Ser447Thr)
c.1141T>A (p.Ser381Thr)
c.1267T>A (p.Ser423Thr)
n.635T>A
c.63T>A (p.Phe21Leu)
c.1357T>A (p.Ser453Thr)
c.1306T>A (p.Ser436Thr)
c.1192T>A (p.Ser398Thr)
c.1297T>A (p.Ser433Thr)
c.1147T>A (p.Ser383Thr)
c.1039T>A (p.Ser347Thr)
 dbSNP
2g.224503691A=CA1331555932CUL3c.1338T= (p.Val446=)
c.1140T= (p.Val380=)
c.1266T= (p.Val422=)
n.634T=
c.62T= (p.Phe21=)
c.1356T= (p.Val452=)
c.1305T= (p.Val435=)
c.1191T= (p.Val397=)
c.1296T= (p.Val432=)
c.1146T= (p.Val382=)
c.1038T= (p.Val346=)
2g.224503691A>CCA350827091CUL3c.1338T>G (p.Val446=)
c.1140T>G (p.Val380=)
c.1266T>G (p.Val422=)
n.634T>G
c.62T>G (p.Phe21Cys)
c.1356T>G (p.Val452=)
c.1305T>G (p.Val435=)
c.1191T>G (p.Val397=)
c.1296T>G (p.Val432=)
c.1146T>G (p.Val382=)
c.1038T>G (p.Val346=)
2g.224503691A>GCA350827094CUL3c.1338T>C (p.Val446=)
c.1140T>C (p.Val380=)
c.1266T>C (p.Val422=)
n.634T>C
c.62T>C (p.Phe21Ser)
c.1356T>C (p.Val452=)
c.1305T>C (p.Val435=)
c.1191T>C (p.Val397=)
c.1296T>C (p.Val432=)
c.1146T>C (p.Val382=)
c.1038T>C (p.Val346=)
 dbSNP gnomAD v2 gnomAD v4
2g.224503691A>TCA350827097CUL3c.1338T>A (p.Val446=)
c.1140T>A (p.Val380=)
c.1266T>A (p.Val422=)
n.634T>A
c.62T>A (p.Phe21Tyr)
c.1356T>A (p.Val452=)
c.1305T>A (p.Val435=)
c.1191T>A (p.Val397=)
c.1296T>A (p.Val432=)
c.1146T>A (p.Val382=)
c.1038T>A (p.Val346=)
 dbSNP
2g.224503692A>CCA350827105CUL3c.1337T>G (p.Val446Gly)
c.1139T>G (p.Val380Gly)
c.1265T>G (p.Val422Gly)
n.633T>G
c.61T>G (p.Phe21Val)
c.1355T>G (p.Val452Gly)
c.1304T>G (p.Val435Gly)
c.1190T>G (p.Val397Gly)
c.1295T>G (p.Val432Gly)
c.1145T>G (p.Val382Gly)
c.1037T>G (p.Val346Gly)
2g.224503692A>GCA350827100CUL3c.1337T>C (p.Val446Ala)
c.1139T>C (p.Val380Ala)
c.1265T>C (p.Val422Ala)
n.633T>C
c.61T>C (p.Phe21Leu)
c.1355T>C (p.Val452Ala)
c.1304T>C (p.Val435Ala)
c.1190T>C (p.Val397Ala)
c.1295T>C (p.Val432Ala)
c.1145T>C (p.Val382Ala)
c.1037T>C (p.Val346Ala)
2g.224503692A>TCA350827102CUL3c.1337T>A (p.Val446Asp)
c.1139T>A (p.Val380Asp)
c.1265T>A (p.Val422Asp)
n.633T>A
c.61T>A (p.Phe21Ile)
c.1355T>A (p.Val452Asp)
c.1304T>A (p.Val435Asp)
c.1190T>A (p.Val397Asp)
c.1295T>A (p.Val432Asp)
c.1145T>A (p.Val382Asp)
c.1037T>A (p.Val346Asp)
 dbSNP
2g.224503693C>ACA350827108CUL3c.1336G>T (p.Val446Phe)
c.1138G>T (p.Val380Phe)
c.1264G>T (p.Val422Phe)
n.632G>T
c.60G>T (p.Val20=)
c.1354G>T (p.Val452Phe)
c.1303G>T (p.Val435Phe)
c.1189G>T (p.Val397Phe)
c.1294G>T (p.Val432Phe)
c.1144G>T (p.Val382Phe)
c.1036G>T (p.Val346Phe)
2g.224503693C>GCA350827111CUL3c.1336G>C (p.Val446Leu)
c.1138G>C (p.Val380Leu)
c.1264G>C (p.Val422Leu)
n.632G>C
c.60G>C (p.Val20=)
c.1354G>C (p.Val452Leu)
c.1303G>C (p.Val435Leu)
c.1189G>C (p.Val397Leu)
c.1294G>C (p.Val432Leu)
c.1144G>C (p.Val382Leu)
c.1036G>C (p.Val346Leu)
 dbSNP
2g.224503693C>TCA350827114CUL3c.1336G>A (p.Val446Ile)
c.1138G>A (p.Val380Ile)
c.1264G>A (p.Val422Ile)
n.632G>A
c.60G>A (p.Val20=)
c.1354G>A (p.Val452Ile)
c.1303G>A (p.Val435Ile)
c.1189G>A (p.Val397Ile)
c.1294G>A (p.Val432Ile)
c.1144G>A (p.Val382Ile)
c.1036G>A (p.Val346Ile)
2g.224503694A=CA1331555933CUL3c.1335T= (p.Ser445=)
c.1137T= (p.Ser379=)
c.1263T= (p.Ser421=)
n.631T=
c.59T= (p.Val20=)
c.1353T= (p.Ser451=)
c.1302T= (p.Ser434=)
c.1188T= (p.Ser396=)
c.1293T= (p.Ser431=)
c.1143T= (p.Ser381=)
c.1035T= (p.Ser345=)
2g.224503694A>CCA350827118CUL3c.1335T>G (p.Ser445Arg)
c.1137T>G (p.Ser379Arg)
c.1263T>G (p.Ser421Arg)
n.631T>G
c.59T>G (p.Val20Gly)
c.1353T>G (p.Ser451Arg)
c.1302T>G (p.Ser434Arg)
c.1188T>G (p.Ser396Arg)
c.1293T>G (p.Ser431Arg)
c.1143T>G (p.Ser381Arg)
c.1035T>G (p.Ser345Arg)
2g.224503694A>GCA350827119CUL3c.1335T>C (p.Ser445=)
c.1137T>C (p.Ser379=)
c.1263T>C (p.Ser421=)
n.631T>C
c.59T>C (p.Val20Ala)
c.1353T>C (p.Ser451=)
c.1302T>C (p.Ser434=)
c.1188T>C (p.Ser396=)
c.1293T>C (p.Ser431=)
c.1143T>C (p.Ser381=)
c.1035T>C (p.Ser345=)
 dbSNP gnomAD v4
2g.224503694A>TCA350827122CUL3c.1335T>A (p.Ser445Arg)
c.1137T>A (p.Ser379Arg)
c.1263T>A (p.Ser421Arg)
n.631T>A
c.59T>A (p.Val20Glu)
c.1353T>A (p.Ser451Arg)
c.1302T>A (p.Ser434Arg)
c.1188T>A (p.Ser396Arg)
c.1293T>A (p.Ser431Arg)
c.1143T>A (p.Ser381Arg)
c.1035T>A (p.Ser345Arg)
 dbSNP
2g.224503695C>ACA350827131CUL3c.1334G>T (p.Ser445Ile)
c.1136G>T (p.Ser379Ile)
c.1262G>T (p.Ser421Ile)
n.630G>T
c.58G>T (p.Val20Leu)
c.1352G>T (p.Ser451Ile)
c.1301G>T (p.Ser434Ile)
c.1187G>T (p.Ser396Ile)
c.1292G>T (p.Ser431Ile)
c.1142G>T (p.Ser381Ile)
c.1034G>T (p.Ser345Ile)
2g.224503695C>GCA350827129CUL3c.1334G>C (p.Ser445Thr)
c.1136G>C (p.Ser379Thr)
c.1262G>C (p.Ser421Thr)
n.630G>C
c.58G>C (p.Val20Leu)
c.1352G>C (p.Ser451Thr)
c.1301G>C (p.Ser434Thr)
c.1187G>C (p.Ser396Thr)
c.1292G>C (p.Ser431Thr)
c.1142G>C (p.Ser381Thr)
c.1034G>C (p.Ser345Thr)
2g.224503695C>TCA350827126CUL3c.1334G>A (p.Ser445Asn)
c.1136G>A (p.Ser379Asn)
c.1262G>A (p.Ser421Asn)
n.630G>A
c.58G>A (p.Val20Met)
c.1352G>A (p.Ser451Asn)
c.1301G>A (p.Ser434Asn)
c.1187G>A (p.Ser396Asn)
c.1292G>A (p.Ser431Asn)
c.1142G>A (p.Ser381Asn)
c.1034G>A (p.Ser345Asn)
2g.224503695_224503697delinsCTTCA1331555934CUL3c.1332_1334delinsAAG (p.Lys444=)
c.1134_1136delinsAAG (p.Lys378=)
c.1260_1262delinsAAG (p.Lys420=)
n.628_630delinsAAG
c.56_58delinsAAG (p.Lys19=)
c.1350_1352delinsAAG (p.Lys450=)
c.1299_1301delinsAAG (p.Lys433=)
c.1185_1187delinsAAG (p.Lys395=)
c.1290_1292delinsAAG (p.Lys430=)
c.1140_1142delinsAAG (p.Lys380=)
c.1032_1034delinsAAG (p.Lys344=)
2g.224503695_224503700delinsCTTTTACA1331555935CUL3c.1329_1334delinsTAAAAG (p.Asn443=)
c.1131_1136delinsTAAAAG (p.Asn377=)
c.1257_1262delinsTAAAAG (p.Asn419=)
n.625_630delinsTAAAAG
c.53_58delinsTAAAAG (p.Ile18=)
c.1347_1352delinsTAAAAG (p.Asn449=)
c.1296_1301delinsTAAAAG (p.Asn432=)
c.1182_1187delinsTAAAAG (p.Asn394=)
c.1287_1292delinsTAAAAG (p.Asn429=)
c.1137_1142delinsTAAAAG (p.Asn379=)
c.1029_1034delinsTAAAAG (p.Asn343=)
2g.224503696T>ACA350827151CUL3c.1333A>T (p.Ser445Cys)
c.1135A>T (p.Ser379Cys)
c.1261A>T (p.Ser421Cys)
n.629A>T
c.57A>T (p.Lys19Asn)
c.1351A>T (p.Ser451Cys)
c.1300A>T (p.Ser434Cys)
c.1186A>T (p.Ser396Cys)
c.1291A>T (p.Ser431Cys)
c.1141A>T (p.Ser381Cys)
c.1033A>T (p.Ser345Cys)
 dbSNP
2g.224503696T>CCA350827137CUL3c.1333A>G (p.Ser445Gly)
c.1135A>G (p.Ser379Gly)
c.1261A>G (p.Ser421Gly)
n.629A>G
c.57A>G (p.Lys19=)
c.1351A>G (p.Ser451Gly)
c.1300A>G (p.Ser434Gly)
c.1186A>G (p.Ser396Gly)
c.1291A>G (p.Ser431Gly)
c.1141A>G (p.Ser381Gly)
c.1033A>G (p.Ser345Gly)
 dbSNP
2g.224503696T>GCA350827139CUL3c.1333A>C (p.Ser445Arg)
c.1135A>C (p.Ser379Arg)
c.1261A>C (p.Ser421Arg)
n.629A>C
c.57A>C (p.Lys19Asn)
c.1351A>C (p.Ser451Arg)
c.1300A>C (p.Ser434Arg)
c.1186A>C (p.Ser396Arg)
c.1291A>C (p.Ser431Arg)
c.1141A>C (p.Ser381Arg)
c.1033A>C (p.Ser345Arg)
2g.224503698_224503699delCA1331555936CUL3c.1332_1333del (p.Ser445CysfsTer3)
c.1134_1135del (p.Ser379CysfsTer3)
c.1260_1261del (p.Ser421CysfsTer3)
n.628_629del
c.56_57del (p.Lys19SerfsTer12)
c.1350_1351del (p.Ser451CysfsTer3)
c.1299_1300del (p.Ser434CysfsTer3)
c.1185_1186del (p.Ser396CysfsTer3)
c.1290_1291del (p.Ser431CysfsTer3)
c.1140_1141del (p.Ser381CysfsTer3)
c.1032_1033del (p.Ser345CysfsTer3)
 dbSNP
2g.224503699_224503703delCA2140017CUL3c.1329_1333del (p.Asn443LysfsTer4)
c.1131_1135del (p.Asn377LysfsTer4)
c.1257_1261del (p.Asn419LysfsTer4)
n.625_629del
c.53_57del (p.Ile18SerfsTer12)
c.1347_1351del (p.Asn449LysfsTer4)
c.1296_1300del (p.Asn432LysfsTer4)
c.1182_1186del (p.Asn394LysfsTer4)
c.1287_1291del (p.Asn429LysfsTer4)
c.1137_1141del (p.Asn379LysfsTer4)
c.1029_1033del (p.Asn343LysfsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503697T>ACA350827154CUL3c.1332A>T (p.Lys444Asn)
c.1134A>T (p.Lys378Asn)
c.1260A>T (p.Lys420Asn)
n.628A>T
c.56A>T (p.Lys19Ile)
c.1350A>T (p.Lys450Asn)
c.1299A>T (p.Lys433Asn)
c.1185A>T (p.Lys395Asn)
c.1290A>T (p.Lys430Asn)
c.1140A>T (p.Lys380Asn)
c.1032A>T (p.Lys344Asn)
 dbSNP
2g.224503697T>CCA350827156CUL3c.1332A>G (p.Lys444=)
c.1134A>G (p.Lys378=)
c.1260A>G (p.Lys420=)
n.628A>G
c.56A>G (p.Lys19Arg)
c.1350A>G (p.Lys450=)
c.1299A>G (p.Lys433=)
c.1185A>G (p.Lys395=)
c.1290A>G (p.Lys430=)
c.1140A>G (p.Lys380=)
c.1032A>G (p.Lys344=)
2g.224503697T>GCA350827159CUL3c.1332A>C (p.Lys444Asn)
c.1134A>C (p.Lys378Asn)
c.1260A>C (p.Lys420Asn)
n.628A>C
c.56A>C (p.Lys19Thr)
c.1350A>C (p.Lys450Asn)
c.1299A>C (p.Lys433Asn)
c.1185A>C (p.Lys395Asn)
c.1290A>C (p.Lys430Asn)
c.1140A>C (p.Lys380Asn)
c.1032A>C (p.Lys344Asn)
2g.224503698T>ACA350827168CUL3c.1331A>T (p.Lys444Ile)
c.1133A>T (p.Lys378Ile)
c.1259A>T (p.Lys420Ile)
n.627A>T
c.55A>T (p.Lys19Ter)
c.1349A>T (p.Lys450Ile)
c.1298A>T (p.Lys433Ile)
c.1184A>T (p.Lys395Ile)
c.1289A>T (p.Lys430Ile)
c.1139A>T (p.Lys380Ile)
c.1031A>T (p.Lys344Ile)
2g.224503698T>CCA350827165CUL3c.1331A>G (p.Lys444Arg)
c.1133A>G (p.Lys378Arg)
c.1259A>G (p.Lys420Arg)
n.627A>G
c.55A>G (p.Lys19Glu)
c.1349A>G (p.Lys450Arg)
c.1298A>G (p.Lys433Arg)
c.1184A>G (p.Lys395Arg)
c.1289A>G (p.Lys430Arg)
c.1139A>G (p.Lys380Arg)
c.1031A>G (p.Lys344Arg)
2g.224503698T>GCA350827163CUL3c.1331A>C (p.Lys444Thr)
c.1133A>C (p.Lys378Thr)
c.1259A>C (p.Lys420Thr)
n.627A>C
c.55A>C (p.Lys19Gln)
c.1349A>C (p.Lys450Thr)
c.1298A>C (p.Lys433Thr)
c.1184A>C (p.Lys395Thr)
c.1289A>C (p.Lys430Thr)
c.1139A>C (p.Lys380Thr)
c.1031A>C (p.Lys344Thr)
2g.224503699T>ACA350827170CUL3c.1330A>T (p.Lys444Ter)
c.1132A>T (p.Lys378Ter)
c.1258A>T (p.Lys420Ter)
n.626A>T
c.54A>T (p.Ile18=)
c.1348A>T (p.Lys450Ter)
c.1297A>T (p.Lys433Ter)
c.1183A>T (p.Lys395Ter)
c.1288A>T (p.Lys430Ter)
c.1138A>T (p.Lys380Ter)
c.1030A>T (p.Lys344Ter)
2g.224503699T>CCA350827172CUL3c.1330A>G (p.Lys444Glu)
c.1132A>G (p.Lys378Glu)
c.1258A>G (p.Lys420Glu)
n.626A>G
c.54A>G (p.Ile18Met)
c.1348A>G (p.Lys450Glu)
c.1297A>G (p.Lys433Glu)
c.1183A>G (p.Lys395Glu)
c.1288A>G (p.Lys430Glu)
c.1138A>G (p.Lys380Glu)
c.1030A>G (p.Lys344Glu)
2g.224503699T>GCA350827174CUL3c.1330A>C (p.Lys444Gln)
c.1132A>C (p.Lys378Gln)
c.1258A>C (p.Lys420Gln)
n.626A>C
c.54A>C (p.Ile18=)
c.1348A>C (p.Lys450Gln)
c.1297A>C (p.Lys433Gln)
c.1183A>C (p.Lys395Gln)
c.1288A>C (p.Lys430Gln)
c.1138A>C (p.Lys380Gln)
c.1030A>C (p.Lys344Gln)
2g.224503700A>CCA350827175CUL3c.1329T>G (p.Asn443Lys)
c.1131T>G (p.Asn377Lys)
c.1257T>G (p.Asn419Lys)
n.625T>G
c.53T>G (p.Ile18Arg)
c.1347T>G (p.Asn449Lys)
c.1296T>G (p.Asn432Lys)
c.1182T>G (p.Asn394Lys)
c.1287T>G (p.Asn429Lys)
c.1137T>G (p.Asn379Lys)
c.1029T>G (p.Asn343Lys)
2g.224503700A>GCA350827179CUL3c.1329T>C (p.Asn443=)
c.1131T>C (p.Asn377=)
c.1257T>C (p.Asn419=)
n.625T>C
c.53T>C (p.Ile18Thr)
c.1347T>C (p.Asn449=)
c.1296T>C (p.Asn432=)
c.1182T>C (p.Asn394=)
c.1287T>C (p.Asn429=)
c.1137T>C (p.Asn379=)
c.1029T>C (p.Asn343=)
2g.224503700A>TCA350827182CUL3c.1329T>A (p.Asn443Lys)
c.1131T>A (p.Asn377Lys)
c.1257T>A (p.Asn419Lys)
n.625T>A
c.53T>A (p.Ile18Lys)
c.1347T>A (p.Asn449Lys)
c.1296T>A (p.Asn432Lys)
c.1182T>A (p.Asn394Lys)
c.1287T>A (p.Asn429Lys)
c.1137T>A (p.Asn379Lys)
c.1029T>A (p.Asn343Lys)
2g.224503701T>ACA350827185CUL3c.1328A>T (p.Asn443Ile)
c.1130A>T (p.Asn377Ile)
c.1256A>T (p.Asn419Ile)
n.624A>T
c.52A>T (p.Ile18Leu)
c.1346A>T (p.Asn449Ile)
c.1295A>T (p.Asn432Ile)
c.1181A>T (p.Asn394Ile)
c.1286A>T (p.Asn429Ile)
c.1136A>T (p.Asn379Ile)
c.1028A>T (p.Asn343Ile)
 dbSNP
2g.224503701T>CCA350827190CUL3c.1328A>G (p.Asn443Ser)
c.1130A>G (p.Asn377Ser)
c.1256A>G (p.Asn419Ser)
n.624A>G
c.52A>G (p.Ile18Val)
c.1346A>G (p.Asn449Ser)
c.1295A>G (p.Asn432Ser)
c.1181A>G (p.Asn394Ser)
c.1286A>G (p.Asn429Ser)
c.1136A>G (p.Asn379Ser)
c.1028A>G (p.Asn343Ser)
 gnomAD v4
2g.224503701T>GCA350827187CUL3c.1328A>C (p.Asn443Thr)
c.1130A>C (p.Asn377Thr)
c.1256A>C (p.Asn419Thr)
n.624A>C
c.52A>C (p.Ile18Leu)
c.1346A>C (p.Asn449Thr)
c.1295A>C (p.Asn432Thr)
c.1181A>C (p.Asn394Thr)
c.1286A>C (p.Asn429Thr)
c.1136A>C (p.Asn379Thr)
c.1028A>C (p.Asn343Thr)
2g.224503702T>ACA350827195CUL3c.1327A>T (p.Asn443Tyr)
c.1129A>T (p.Asn377Tyr)
c.1255A>T (p.Asn419Tyr)
n.623A>T
c.51A>T (p.Gln17His)
c.1345A>T (p.Asn449Tyr)
c.1294A>T (p.Asn432Tyr)
c.1180A>T (p.Asn394Tyr)
c.1285A>T (p.Asn429Tyr)
c.1135A>T (p.Asn379Tyr)
c.1027A>T (p.Asn343Tyr)
2g.224503702T>CCA350827197CUL3c.1327A>G (p.Asn443Asp)
c.1129A>G (p.Asn377Asp)
c.1255A>G (p.Asn419Asp)
n.623A>G
c.51A>G (p.Gln17=)
c.1345A>G (p.Asn449Asp)
c.1294A>G (p.Asn432Asp)
c.1180A>G (p.Asn394Asp)
c.1285A>G (p.Asn429Asp)
c.1135A>G (p.Asn379Asp)
c.1027A>G (p.Asn343Asp)
 dbSNP
2g.224503702T>GCA350827199CUL3c.1327A>C (p.Asn443His)
c.1129A>C (p.Asn377His)
c.1255A>C (p.Asn419His)
n.623A>C
c.51A>C (p.Gln17His)
c.1345A>C (p.Asn449His)
c.1294A>C (p.Asn432His)
c.1180A>C (p.Asn394His)
c.1285A>C (p.Asn429His)
c.1135A>C (p.Asn379His)
c.1027A>C (p.Asn343His)
2g.224503703T>ACA350827202CUL3c.1326A>T (p.Thr442=)
c.1128A>T (p.Thr376=)
c.1254A>T (p.Thr418=)
n.622A>T
c.50A>T (p.Gln17Leu)
c.1344A>T (p.Thr448=)
c.1293A>T (p.Thr431=)
c.1179A>T (p.Thr393=)
c.1284A>T (p.Thr428=)
c.1134A>T (p.Thr378=)
c.1026A>T (p.Thr342=)
2g.224503703T>CCA350827205CUL3c.1326A>G (p.Thr442=)
c.1128A>G (p.Thr376=)
c.1254A>G (p.Thr418=)
n.622A>G
c.50A>G (p.Gln17Arg)
c.1344A>G (p.Thr448=)
c.1293A>G (p.Thr431=)
c.1179A>G (p.Thr393=)
c.1284A>G (p.Thr428=)
c.1134A>G (p.Thr378=)
c.1026A>G (p.Thr342=)
 dbSNP gnomAD v3 gnomAD v4
2g.224503703T>GCA350827207CUL3c.1326A>C (p.Thr442=)
c.1128A>C (p.Thr376=)
c.1254A>C (p.Thr418=)
n.622A>C
c.50A>C (p.Gln17Pro)
c.1344A>C (p.Thr448=)
c.1293A>C (p.Thr431=)
c.1179A>C (p.Thr393=)
c.1284A>C (p.Thr428=)
c.1134A>C (p.Thr378=)
c.1026A>C (p.Thr342=)
2g.224503703T=CA1331555937CUL3c.1326A= (p.Thr442=)
c.1128A= (p.Thr376=)
c.1254A= (p.Thr418=)
n.622A=
c.50A= (p.Gln17=)
c.1344A= (p.Thr448=)
c.1293A= (p.Thr431=)
c.1179A= (p.Thr393=)
c.1284A= (p.Thr428=)
c.1134A= (p.Thr378=)
c.1026A= (p.Thr342=)
2g.224503704G>ACA350827211CUL3c.1325C>T (p.Thr442Ile)
c.1127C>T (p.Thr376Ile)
c.1253C>T (p.Thr418Ile)
n.621C>T
c.49C>T (p.Gln17Ter)
c.1343C>T (p.Thr448Ile)
c.1292C>T (p.Thr431Ile)
c.1178C>T (p.Thr393Ile)
c.1283C>T (p.Thr428Ile)
c.1133C>T (p.Thr378Ile)
c.1025C>T (p.Thr342Ile)
 dbSNP
2g.224503704G>CCA350827214CUL3c.1325C>G (p.Thr442Arg)
c.1127C>G (p.Thr376Arg)
c.1253C>G (p.Thr418Arg)
n.621C>G
c.49C>G (p.Gln17Glu)
c.1343C>G (p.Thr448Arg)
c.1292C>G (p.Thr431Arg)
c.1178C>G (p.Thr393Arg)
c.1283C>G (p.Thr428Arg)
c.1133C>G (p.Thr378Arg)
c.1025C>G (p.Thr342Arg)
 dbSNP COSMIC
2g.224503704G>TCA350827216CUL3c.1325C>A (p.Thr442Lys)
c.1127C>A (p.Thr376Lys)
c.1253C>A (p.Thr418Lys)
n.621C>A
c.49C>A (p.Gln17Lys)
c.1343C>A (p.Thr448Lys)
c.1292C>A (p.Thr431Lys)
c.1178C>A (p.Thr393Lys)
c.1283C>A (p.Thr428Lys)
c.1133C>A (p.Thr378Lys)
c.1025C>A (p.Thr342Lys)
 dbSNP
2g.224503704_224503705insGTAGATTATTAAGCA2701737684CUL3c.1325_1326insTTAATAATCTACC (p.Asn443Ter)
c.1127_1128insTTAATAATCTACC (p.Asn377Ter)
c.1253_1254insTTAATAATCTACC (p.Asn419Ter)
n.621_622insTTAATAATCTACC
c.49_50insTTAATAATCTACC (p.Gln17LeufsTer19)
c.1343_1344insTTAATAATCTACC (p.Asn449Ter)
c.1292_1293insTTAATAATCTACC (p.Asn432Ter)
c.1178_1179insTTAATAATCTACC (p.Asn394Ter)
c.1283_1284insTTAATAATCTACC (p.Asn429Ter)
c.1133_1134insTTAATAATCTACC (p.Asn379Ter)
c.1025_1026insTTAATAATCTACC (p.Asn343Ter)
 dbSNP
2g.224503705T>ACA350827220CUL3c.1324A>T (p.Thr442Ser)
c.1126A>T (p.Thr376Ser)
c.1252A>T (p.Thr418Ser)
n.620A>T
c.48A>T (p.Ser16=)
c.1342A>T (p.Thr448Ser)
c.1291A>T (p.Thr431Ser)
c.1177A>T (p.Thr393Ser)
c.1282A>T (p.Thr428Ser)
c.1132A>T (p.Thr378Ser)
c.1024A>T (p.Thr342Ser)
 dbSNP
2g.224503705T>CCA350827223CUL3c.1324A>G (p.Thr442Ala)
c.1126A>G (p.Thr376Ala)
c.1252A>G (p.Thr418Ala)
n.620A>G
c.48A>G (p.Ser16=)
c.1342A>G (p.Thr448Ala)
c.1291A>G (p.Thr431Ala)
c.1177A>G (p.Thr393Ala)
c.1282A>G (p.Thr428Ala)
c.1132A>G (p.Thr378Ala)
c.1024A>G (p.Thr342Ala)
2g.224503705T>GCA350827225CUL3c.1324A>C (p.Thr442Pro)
c.1126A>C (p.Thr376Pro)
c.1252A>C (p.Thr418Pro)
n.620A>C
c.48A>C (p.Ser16=)
c.1342A>C (p.Thr448Pro)
c.1291A>C (p.Thr431Pro)
c.1177A>C (p.Thr393Pro)
c.1282A>C (p.Thr428Pro)
c.1132A>C (p.Thr378Pro)
c.1024A>C (p.Thr342Pro)
2g.224503706G>ACA350827233CUL3c.1323C>T (p.Leu441=)
c.1125C>T (p.Leu375=)
c.1251C>T (p.Leu417=)
n.619C>T
c.47C>T (p.Ser16Leu)
c.1341C>T (p.Leu447=)
c.1290C>T (p.Leu430=)
c.1176C>T (p.Leu392=)
c.1281C>T (p.Leu427=)
c.1131C>T (p.Leu377=)
c.1023C>T (p.Leu341=)
 ClinVar dbSNP gnomAD v4
2g.224503706G>CCA350827229CUL3c.1323C>G (p.Leu441=)
c.1125C>G (p.Leu375=)
c.1251C>G (p.Leu417=)
n.619C>G
c.47C>G (p.Ser16Ter)
c.1341C>G (p.Leu447=)
c.1290C>G (p.Leu430=)
c.1176C>G (p.Leu392=)
c.1281C>G (p.Leu427=)
c.1131C>G (p.Leu377=)
c.1023C>G (p.Leu341=)
2g.224503706G=CA1331555938CUL3c.1323C= (p.Leu441=)
c.1125C= (p.Leu375=)
c.1251C= (p.Leu417=)
n.619C=
c.47C= (p.Ser16=)
c.1341C= (p.Leu447=)
c.1290C= (p.Leu430=)
c.1176C= (p.Leu392=)
c.1281C= (p.Leu427=)
c.1131C= (p.Leu377=)
c.1023C= (p.Leu341=)
2g.224503706G>TCA350827232CUL3c.1323C>A (p.Leu441=)
c.1125C>A (p.Leu375=)
c.1251C>A (p.Leu417=)
n.619C>A
c.47C>A (p.Ser16Ter)
c.1341C>A (p.Leu447=)
c.1290C>A (p.Leu430=)
c.1176C>A (p.Leu392=)
c.1281C>A (p.Leu427=)
c.1131C>A (p.Leu377=)
c.1023C>A (p.Leu341=)
2g.224503707A>CCA350827236CUL3c.1322T>G (p.Leu441Arg)
c.1124T>G (p.Leu375Arg)
c.1250T>G (p.Leu417Arg)
n.618T>G
c.46T>G (p.Ser16Ala)
c.1340T>G (p.Leu447Arg)
c.1289T>G (p.Leu430Arg)
c.1175T>G (p.Leu392Arg)
c.1280T>G (p.Leu427Arg)
c.1130T>G (p.Leu377Arg)
c.1022T>G (p.Leu341Arg)
2g.224503707A>GCA350827240CUL3c.1322T>C (p.Leu441Pro)
c.1124T>C (p.Leu375Pro)
c.1250T>C (p.Leu417Pro)
n.618T>C
c.46T>C (p.Ser16Pro)
c.1340T>C (p.Leu447Pro)
c.1289T>C (p.Leu430Pro)
c.1175T>C (p.Leu392Pro)
c.1280T>C (p.Leu427Pro)
c.1130T>C (p.Leu377Pro)
c.1022T>C (p.Leu341Pro)
2g.224503707A>TCA350827241CUL3c.1322T>A (p.Leu441His)
c.1124T>A (p.Leu375His)
c.1250T>A (p.Leu417His)
n.618T>A
c.46T>A (p.Ser16Thr)
c.1340T>A (p.Leu447His)
c.1289T>A (p.Leu430His)
c.1175T>A (p.Leu392His)
c.1280T>A (p.Leu427His)
c.1130T>A (p.Leu377His)
c.1022T>A (p.Leu341His)
 dbSNP
2g.224503708G>ACA350827245CUL3c.1321C>T (p.Leu441Phe)
c.1123C>T (p.Leu375Phe)
c.1249C>T (p.Leu417Phe)
n.617C>T
c.45C>T (p.Phe15=)
c.1339C>T (p.Leu447Phe)
c.1288C>T (p.Leu430Phe)
c.1174C>T (p.Leu392Phe)
c.1279C>T (p.Leu427Phe)
c.1129C>T (p.Leu377Phe)
c.1021C>T (p.Leu341Phe)
 dbSNP
2g.224503708G>CCA350827246CUL3c.1321C>G (p.Leu441Val)
c.1123C>G (p.Leu375Val)
c.1249C>G (p.Leu417Val)
n.617C>G
c.45C>G (p.Phe15Leu)
c.1339C>G (p.Leu447Val)
c.1288C>G (p.Leu430Val)
c.1174C>G (p.Leu392Val)
c.1279C>G (p.Leu427Val)
c.1129C>G (p.Leu377Val)
c.1021C>G (p.Leu341Val)
 dbSNP
2g.224503708G>TCA350827249CUL3c.1321C>A (p.Leu441Ile)
c.1123C>A (p.Leu375Ile)
c.1249C>A (p.Leu417Ile)
n.617C>A
c.45C>A (p.Phe15Leu)
c.1339C>A (p.Leu447Ile)
c.1288C>A (p.Leu430Ile)
c.1174C>A (p.Leu392Ile)
c.1279C>A (p.Leu427Ile)
c.1129C>A (p.Leu377Ile)
c.1021C>A (p.Leu341Ile)
 dbSNP
2g.224503709A>CCA350827257CUL3c.1320T>G (p.Leu440=)
c.1122T>G (p.Leu374=)
c.1248T>G (p.Leu416=)
n.616T>G
c.44T>G (p.Phe15Cys)
c.1338T>G (p.Leu446=)
c.1287T>G (p.Leu429=)
c.1173T>G (p.Leu391=)
c.1278T>G (p.Leu426=)
c.1128T>G (p.Leu376=)
c.1020T>G (p.Leu340=)
2g.224503709A>GCA350827254CUL3c.1320T>C (p.Leu440=)
c.1122T>C (p.Leu374=)
c.1248T>C (p.Leu416=)
n.616T>C
c.44T>C (p.Phe15Ser)
c.1338T>C (p.Leu446=)
c.1287T>C (p.Leu429=)
c.1173T>C (p.Leu391=)
c.1278T>C (p.Leu426=)
c.1128T>C (p.Leu376=)
c.1020T>C (p.Leu340=)
 gnomAD v4
2g.224503709A>TCA350827252CUL3c.1320T>A (p.Leu440=)
c.1122T>A (p.Leu374=)
c.1248T>A (p.Leu416=)
n.616T>A
c.44T>A (p.Phe15Tyr)
c.1338T>A (p.Leu446=)
c.1287T>A (p.Leu429=)
c.1173T>A (p.Leu391=)
c.1278T>A (p.Leu426=)
c.1128T>A (p.Leu376=)
c.1020T>A (p.Leu340=)
2g.224503710A>CCA350827262CUL3c.1319T>G (p.Leu440Arg)
c.1121T>G (p.Leu374Arg)
c.1247T>G (p.Leu416Arg)
n.615T>G
c.43T>G (p.Phe15Val)
c.1337T>G (p.Leu446Arg)
c.1286T>G (p.Leu429Arg)
c.1172T>G (p.Leu391Arg)
c.1277T>G (p.Leu426Arg)
c.1127T>G (p.Leu376Arg)
c.1019T>G (p.Leu340Arg)
2g.224503710A>GCA350827266CUL3c.1319T>C (p.Leu440Pro)
c.1121T>C (p.Leu374Pro)
c.1247T>C (p.Leu416Pro)
n.615T>C
c.43T>C (p.Phe15Leu)
c.1337T>C (p.Leu446Pro)
c.1286T>C (p.Leu429Pro)
c.1172T>C (p.Leu391Pro)
c.1277T>C (p.Leu426Pro)
c.1127T>C (p.Leu376Pro)
c.1019T>C (p.Leu340Pro)
2g.224503710A>TCA350827268CUL3c.1319T>A (p.Leu440His)
c.1121T>A (p.Leu374His)
c.1247T>A (p.Leu416His)
n.615T>A
c.43T>A (p.Phe15Ile)
c.1337T>A (p.Leu446His)
c.1286T>A (p.Leu429His)
c.1172T>A (p.Leu391His)
c.1277T>A (p.Leu426His)
c.1127T>A (p.Leu376His)
c.1019T>A (p.Leu340His)
 dbSNP
2g.224503711G>ACA350827270CUL3c.1318C>T (p.Leu440Phe)
c.1120C>T (p.Leu374Phe)
c.1246C>T (p.Leu416Phe)
n.614C>T
c.42C>T (p.Asp14=)
c.1336C>T (p.Leu446Phe)
c.1285C>T (p.Leu429Phe)
c.1171C>T (p.Leu391Phe)
c.1276C>T (p.Leu426Phe)
c.1126C>T (p.Leu376Phe)
c.1018C>T (p.Leu340Phe)
2g.224503711G>CCA350827273CUL3c.1318C>G (p.Leu440Val)
c.1120C>G (p.Leu374Val)
c.1246C>G (p.Leu416Val)
n.614C>G
c.42C>G (p.Asp14Glu)
c.1336C>G (p.Leu446Val)
c.1285C>G (p.Leu429Val)
c.1171C>G (p.Leu391Val)
c.1276C>G (p.Leu426Val)
c.1126C>G (p.Leu376Val)
c.1018C>G (p.Leu340Val)
 dbSNP
2g.224503711G>TCA350827276CUL3c.1318C>A (p.Leu440Ile)
c.1120C>A (p.Leu374Ile)
c.1246C>A (p.Leu416Ile)
n.614C>A
c.42C>A (p.Asp14Glu)
c.1336C>A (p.Leu446Ile)
c.1285C>A (p.Leu429Ile)
c.1171C>A (p.Leu391Ile)
c.1276C>A (p.Leu426Ile)
c.1126C>A (p.Leu376Ile)
c.1018C>A (p.Leu340Ile)
2g.224503712T>ACA350827279CUL3c.1317A>T (p.Arg439Ser)
c.1119A>T (p.Arg373Ser)
c.1245A>T (p.Arg415Ser)
n.613A>T
c.41A>T (p.Asp14Val)
c.1335A>T (p.Arg445Ser)
c.1284A>T (p.Arg428Ser)
c.1170A>T (p.Arg390Ser)
c.1275A>T (p.Arg425Ser)
c.1125A>T (p.Arg375Ser)
c.1017A>T (p.Arg339Ser)
 dbSNP
2g.224503712T>CCA2140018CUL3c.1317A>G (p.Arg439=)
c.1119A>G (p.Arg373=)
c.1245A>G (p.Arg415=)
n.613A>G
c.41A>G (p.Asp14Gly)
c.1335A>G (p.Arg445=)
c.1284A>G (p.Arg428=)
c.1170A>G (p.Arg390=)
c.1275A>G (p.Arg425=)
c.1125A>G (p.Arg375=)
c.1017A>G (p.Arg339=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503712T>GCA350827282CUL3c.1317A>C (p.Arg439Ser)
c.1119A>C (p.Arg373Ser)
c.1245A>C (p.Arg415Ser)
n.613A>C
c.41A>C (p.Asp14Ala)
c.1335A>C (p.Arg445Ser)
c.1284A>C (p.Arg428Ser)
c.1170A>C (p.Arg390Ser)
c.1275A>C (p.Arg425Ser)
c.1125A>C (p.Arg375Ser)
c.1017A>C (p.Arg339Ser)
 dbSNP
2g.224503712T=CA1331555939CUL3c.1317A= (p.Arg439=)
c.1119A= (p.Arg373=)
c.1245A= (p.Arg415=)
n.613A=
c.41A= (p.Asp14=)
c.1335A= (p.Arg445=)
c.1284A= (p.Arg428=)
c.1170A= (p.Arg390=)
c.1275A= (p.Arg425=)
c.1125A= (p.Arg375=)
c.1017A= (p.Arg339=)
2g.224503713C>ACA350827285CUL3c.1316G>T (p.Arg439Ile)
c.1118G>T (p.Arg373Ile)
c.1244G>T (p.Arg415Ile)
n.612G>T
c.40G>T (p.Asp14Tyr)
c.1334G>T (p.Arg445Ile)
c.1283G>T (p.Arg428Ile)
c.1169G>T (p.Arg390Ile)
c.1274G>T (p.Arg425Ile)
c.1124G>T (p.Arg375Ile)
c.1016G>T (p.Arg339Ile)
2g.224503713C>GCA350827286CUL3c.1316G>C (p.Arg439Thr)
c.1118G>C (p.Arg373Thr)
c.1244G>C (p.Arg415Thr)
n.612G>C
c.40G>C (p.Asp14His)
c.1334G>C (p.Arg445Thr)
c.1283G>C (p.Arg428Thr)
c.1169G>C (p.Arg390Thr)
c.1274G>C (p.Arg425Thr)
c.1124G>C (p.Arg375Thr)
c.1016G>C (p.Arg339Thr)
 dbSNP
2g.224503713C>TCA350827289CUL3c.1316G>A (p.Arg439Lys)
c.1118G>A (p.Arg373Lys)
c.1244G>A (p.Arg415Lys)
n.612G>A
c.40G>A (p.Asp14Asn)
c.1334G>A (p.Arg445Lys)
c.1283G>A (p.Arg428Lys)
c.1169G>A (p.Arg390Lys)
c.1274G>A (p.Arg425Lys)
c.1124G>A (p.Arg375Lys)
c.1016G>A (p.Arg339Lys)
 dbSNP
2g.224503715_224503717delCA645514936CUL3c.1314_1316del (p.Arg439del)
c.1116_1118del (p.Arg373del)
c.1242_1244del (p.Arg415del)
n.610_612del
c.38_40del (p.Gly13del)
c.1332_1334del (p.Arg445del)
c.1281_1283del (p.Arg428del)
c.1167_1169del (p.Arg390del)
c.1272_1274del (p.Arg425del)
c.1122_1124del (p.Arg375del)
c.1014_1016del (p.Arg339del)
 COSMIC
2g.224503714T>ACA350827292CUL3c.1315A>T (p.Arg439Ter)
c.1117A>T (p.Arg373Ter)
c.1243A>T (p.Arg415Ter)
n.611A>T
c.39A>T (p.Gly13=)
c.1333A>T (p.Arg445Ter)
c.1282A>T (p.Arg428Ter)
c.1168A>T (p.Arg390Ter)
c.1273A>T (p.Arg425Ter)
c.1123A>T (p.Arg375Ter)
c.1015A>T (p.Arg339Ter)
2g.224503714T>CCA350827295CUL3c.1315A>G (p.Arg439Gly)
c.1117A>G (p.Arg373Gly)
c.1243A>G (p.Arg415Gly)
n.611A>G
c.39A>G (p.Gly13=)
c.1333A>G (p.Arg445Gly)
c.1282A>G (p.Arg428Gly)
c.1168A>G (p.Arg390Gly)
c.1273A>G (p.Arg425Gly)
c.1123A>G (p.Arg375Gly)
c.1015A>G (p.Arg339Gly)
2g.224503714T>GCA431492657CUL3c.1315A>C (p.Arg439=)
c.1117A>C (p.Arg373=)
c.1243A>C (p.Arg415=)
n.611A>C
c.39A>C (p.Gly13=)
c.1333A>C (p.Arg445=)
c.1282A>C (p.Arg428=)
c.1168A>C (p.Arg390=)
c.1273A>C (p.Arg425=)
c.1123A>C (p.Arg375=)
c.1015A>C (p.Arg339=)
2g.224503715C>ACA350827297CUL3c.1314G>T (p.Arg438Ser)
c.1116G>T (p.Arg372Ser)
c.1242G>T (p.Arg414Ser)
n.610G>T
c.38G>T (p.Gly13Val)
c.1332G>T (p.Arg444Ser)
c.1281G>T (p.Arg427Ser)
c.1167G>T (p.Arg389Ser)
c.1272G>T (p.Arg424Ser)
c.1122G>T (p.Arg374Ser)
c.1014G>T (p.Arg338Ser)
2g.224503715C>GCA350827299CUL3c.1314G>C (p.Arg438Ser)
c.1116G>C (p.Arg372Ser)
c.1242G>C (p.Arg414Ser)
n.610G>C
c.38G>C (p.Gly13Ala)
c.1332G>C (p.Arg444Ser)
c.1281G>C (p.Arg427Ser)
c.1167G>C (p.Arg389Ser)
c.1272G>C (p.Arg424Ser)
c.1122G>C (p.Arg374Ser)
c.1014G>C (p.Arg338Ser)
 dbSNP
2g.224503715C>TCA350827302CUL3c.1314G>A (p.Arg438=)
c.1116G>A (p.Arg372=)
c.1242G>A (p.Arg414=)
n.610G>A
c.38G>A (p.Gly13Glu)
c.1332G>A (p.Arg444=)
c.1281G>A (p.Arg427=)
c.1167G>A (p.Arg389=)
c.1272G>A (p.Arg424=)
c.1122G>A (p.Arg374=)
c.1014G>A (p.Arg338=)
 dbSNP
2g.224503716delCA2577260323CUL3c.1314del (p.Arg439AspfsTer16)
c.1116del (p.Arg373AspfsTer16)
c.1242del (p.Arg415AspfsTer16)
n.610del
c.38del (p.Gly13GlufsTer6)
c.1332del (p.Arg445AspfsTer16)
c.1281del (p.Arg428AspfsTer16)
c.1167del (p.Arg390AspfsTer16)
c.1272del (p.Arg425AspfsTer16)
c.1122del (p.Arg375AspfsTer16)
c.1014del (p.Arg339AspfsTer16)
2g.224503716C>ACA350827306CUL3c.1313G>T (p.Arg438Met)
c.1115G>T (p.Arg372Met)
c.1241G>T (p.Arg414Met)
n.609G>T
c.37G>T (p.Gly13Ter)
c.1331G>T (p.Arg444Met)
c.1280G>T (p.Arg427Met)
c.1166G>T (p.Arg389Met)
c.1271G>T (p.Arg424Met)
c.1121G>T (p.Arg374Met)
c.1013G>T (p.Arg338Met)
 dbSNP gnomAD v4
2g.224503716C>GCA350827307CUL3c.1313G>C (p.Arg438Thr)
c.1115G>C (p.Arg372Thr)
c.1241G>C (p.Arg414Thr)
n.609G>C
c.37G>C (p.Gly13Arg)
c.1331G>C (p.Arg444Thr)
c.1280G>C (p.Arg427Thr)
c.1166G>C (p.Arg389Thr)
c.1271G>C (p.Arg424Thr)
c.1121G>C (p.Arg374Thr)
c.1013G>C (p.Arg338Thr)
 dbSNP
2g.224503716C>TCA350827308CUL3c.1313G>A (p.Arg438Lys)
c.1115G>A (p.Arg372Lys)
c.1241G>A (p.Arg414Lys)
n.609G>A
c.37G>A (p.Gly13Arg)
c.1331G>A (p.Arg444Lys)
c.1280G>A (p.Arg427Lys)
c.1166G>A (p.Arg389Lys)
c.1271G>A (p.Arg424Lys)
c.1121G>A (p.Arg374Lys)
c.1013G>A (p.Arg338Lys)
 dbSNP
2g.224503717T>ACA350827309CUL3c.1312A>T (p.Arg438Trp)
c.1114A>T (p.Arg372Trp)
c.1240A>T (p.Arg414Trp)
n.608A>T
c.36A>T (p.Gln12His)
c.1330A>T (p.Arg444Trp)
c.1279A>T (p.Arg427Trp)
c.1165A>T (p.Arg389Trp)
c.1270A>T (p.Arg424Trp)
c.1120A>T (p.Arg374Trp)
c.1012A>T (p.Arg338Trp)
2g.224503717T>CCA350827311CUL3c.1312A>G (p.Arg438Gly)
c.1114A>G (p.Arg372Gly)
c.1240A>G (p.Arg414Gly)
n.608A>G
c.36A>G (p.Gln12=)
c.1330A>G (p.Arg444Gly)
c.1279A>G (p.Arg427Gly)
c.1165A>G (p.Arg389Gly)
c.1270A>G (p.Arg424Gly)
c.1120A>G (p.Arg374Gly)
c.1012A>G (p.Arg338Gly)
2g.224503717T>GCA350827310CUL3c.1312A>C (p.Arg438=)
c.1114A>C (p.Arg372=)
c.1240A>C (p.Arg414=)
n.608A>C
c.36A>C (p.Gln12His)
c.1330A>C (p.Arg444=)
c.1279A>C (p.Arg427=)
c.1165A>C (p.Arg389=)
c.1270A>C (p.Arg424=)
c.1120A>C (p.Arg374=)
c.1012A>C (p.Arg338=)
2g.224503718T>ACA350827312CUL3c.1311A>T (p.Ala437=)
c.1113A>T (p.Ala371=)
c.1239A>T (p.Ala413=)
n.607A>T
c.35A>T (p.Gln12Leu)
c.1329A>T (p.Ala443=)
c.1278A>T (p.Ala426=)
c.1164A>T (p.Ala388=)
c.1269A>T (p.Ala423=)
c.1119A>T (p.Ala373=)
c.1011A>T (p.Ala337=)
2g.224503718T>CCA350827314CUL3c.1311A>G (p.Ala437=)
c.1113A>G (p.Ala371=)
c.1239A>G (p.Ala413=)
n.607A>G
c.35A>G (p.Gln12Arg)
c.1329A>G (p.Ala443=)
c.1278A>G (p.Ala426=)
c.1164A>G (p.Ala388=)
c.1269A>G (p.Ala423=)
c.1119A>G (p.Ala373=)
c.1011A>G (p.Ala337=)
2g.224503718T>GCA350827313CUL3c.1311A>C (p.Ala437=)
c.1113A>C (p.Ala371=)
c.1239A>C (p.Ala413=)
n.607A>C
c.35A>C (p.Gln12Pro)
c.1329A>C (p.Ala443=)
c.1278A>C (p.Ala426=)
c.1164A>C (p.Ala388=)
c.1269A>C (p.Ala423=)
c.1119A>C (p.Ala373=)
c.1011A>C (p.Ala337=)
2g.224503719G>ACA350827315CUL3c.1310C>T (p.Ala437Val)
c.1112C>T (p.Ala371Val)
c.1238C>T (p.Ala413Val)
n.606C>T
c.34C>T (p.Gln12Ter)
c.1328C>T (p.Ala443Val)
c.1277C>T (p.Ala426Val)
c.1163C>T (p.Ala388Val)
c.1268C>T (p.Ala423Val)
c.1118C>T (p.Ala373Val)
c.1010C>T (p.Ala337Val)
 dbSNP
2g.224503719G>CCA350827317CUL3c.1310C>G (p.Ala437Gly)
c.1112C>G (p.Ala371Gly)
c.1238C>G (p.Ala413Gly)
n.606C>G
c.34C>G (p.Gln12Glu)
c.1328C>G (p.Ala443Gly)
c.1277C>G (p.Ala426Gly)
c.1163C>G (p.Ala388Gly)
c.1268C>G (p.Ala423Gly)
c.1118C>G (p.Ala373Gly)
c.1010C>G (p.Ala337Gly)
2g.224503719G>TCA350827318CUL3c.1310C>A (p.Ala437Glu)
c.1112C>A (p.Ala371Glu)
c.1238C>A (p.Ala413Glu)
n.606C>A
c.34C>A (p.Gln12Lys)
c.1328C>A (p.Ala443Glu)
c.1277C>A (p.Ala426Glu)
c.1163C>A (p.Ala388Glu)
c.1268C>A (p.Ala423Glu)
c.1118C>A (p.Ala373Glu)
c.1010C>A (p.Ala337Glu)
2g.224503720C>ACA350827320CUL3c.1309G>T (p.Ala437Ser)
c.1111G>T (p.Ala371Ser)
c.1237G>T (p.Ala413Ser)
n.605G>T
c.33G>T (p.Trp11Cys)
c.1327G>T (p.Ala443Ser)
c.1276G>T (p.Ala426Ser)
c.1162G>T (p.Ala388Ser)
c.1267G>T (p.Ala423Ser)
c.1117G>T (p.Ala373Ser)
c.1009G>T (p.Ala337Ser)
 dbSNP
2g.224503720C>GCA350827322CUL3c.1309G>C (p.Ala437Pro)
c.1111G>C (p.Ala371Pro)
c.1237G>C (p.Ala413Pro)
n.605G>C
c.33G>C (p.Trp11Cys)
c.1327G>C (p.Ala443Pro)
c.1276G>C (p.Ala426Pro)
c.1162G>C (p.Ala388Pro)
c.1267G>C (p.Ala423Pro)
c.1117G>C (p.Ala373Pro)
c.1009G>C (p.Ala337Pro)
 dbSNP
2g.224503720C>TCA350827323CUL3c.1309G>A (p.Ala437Thr)
c.1111G>A (p.Ala371Thr)
c.1237G>A (p.Ala413Thr)
n.605G>A
c.33G>A (p.Trp11Ter)
c.1327G>A (p.Ala443Thr)
c.1276G>A (p.Ala426Thr)
c.1162G>A (p.Ala388Thr)
c.1267G>A (p.Ala423Thr)
c.1117G>A (p.Ala373Thr)
c.1009G>A (p.Ala337Thr)
 dbSNP
2g.224503721C>ACA350827327CUL3c.1308G>T (p.Leu436Phe)
c.1110G>T (p.Leu370Phe)
c.1236G>T (p.Leu412Phe)
n.604G>T
c.32G>T (p.Trp11Leu)
c.1326G>T (p.Leu442Phe)
c.1275G>T (p.Leu425Phe)
c.1161G>T (p.Leu387Phe)
c.1266G>T (p.Leu422Phe)
c.1116G>T (p.Leu372Phe)
c.1008G>T (p.Leu336Phe)
 dbSNP gnomAD v4
2g.224503721C>GCA350827329CUL3c.1308G>C (p.Leu436Phe)
c.1110G>C (p.Leu370Phe)
c.1236G>C (p.Leu412Phe)
n.604G>C
c.32G>C (p.Trp11Ser)
c.1326G>C (p.Leu442Phe)
c.1275G>C (p.Leu425Phe)
c.1161G>C (p.Leu387Phe)
c.1266G>C (p.Leu422Phe)
c.1116G>C (p.Leu372Phe)
c.1008G>C (p.Leu336Phe)
 dbSNP
2g.224503721C>TCA350827332CUL3c.1308G>A (p.Leu436=)
c.1110G>A (p.Leu370=)
c.1236G>A (p.Leu412=)
n.604G>A
c.32G>A (p.Trp11Ter)
c.1326G>A (p.Leu442=)
c.1275G>A (p.Leu425=)
c.1161G>A (p.Leu387=)
c.1266G>A (p.Leu422=)
c.1116G>A (p.Leu372=)
c.1008G>A (p.Leu336=)
 dbSNP
2g.224503722A>CCA350827334CUL3c.1307T>G (p.Leu436Trp)
c.1109T>G (p.Leu370Trp)
c.1235T>G (p.Leu412Trp)
n.603T>G
c.31T>G (p.Trp11Gly)
c.1325T>G (p.Leu442Trp)
c.1274T>G (p.Leu425Trp)
c.1160T>G (p.Leu387Trp)
c.1265T>G (p.Leu422Trp)
c.1115T>G (p.Leu372Trp)
c.1007T>G (p.Leu336Trp)
2g.224503722A>GCA350827337CUL3c.1307T>C (p.Leu436Ser)
c.1109T>C (p.Leu370Ser)
c.1235T>C (p.Leu412Ser)
n.603T>C
c.31T>C (p.Trp11Arg)
c.1325T>C (p.Leu442Ser)
c.1274T>C (p.Leu425Ser)
c.1160T>C (p.Leu387Ser)
c.1265T>C (p.Leu422Ser)
c.1115T>C (p.Leu372Ser)
c.1007T>C (p.Leu336Ser)
 dbSNP
2g.224503722A>TCA350827341CUL3c.1307T>A (p.Leu436Ter)
c.1109T>A (p.Leu370Ter)
c.1235T>A (p.Leu412Ter)
n.603T>A
c.31T>A (p.Trp11Arg)
c.1325T>A (p.Leu442Ter)
c.1274T>A (p.Leu425Ter)
c.1160T>A (p.Leu387Ter)
c.1265T>A (p.Leu422Ter)
c.1115T>A (p.Leu372Ter)
c.1007T>A (p.Leu336Ter)
 dbSNP
2g.224503723A>CCA350827345CUL3c.1306T>G (p.Leu436Val)
c.1108T>G (p.Leu370Val)
c.1234T>G (p.Leu412Val)
n.602T>G
c.30T>G (p.Thr10=)
c.1324T>G (p.Leu442Val)
c.1273T>G (p.Leu425Val)
c.1159T>G (p.Leu387Val)
c.1264T>G (p.Leu422Val)
c.1114T>G (p.Leu372Val)
c.1006T>G (p.Leu336Val)
 ClinVar gnomAD v4
2g.224503723A>GCA431492669CUL3c.1306T>C (p.Leu436=)
c.1108T>C (p.Leu370=)
c.1234T>C (p.Leu412=)
n.602T>C
c.30T>C (p.Thr10=)
c.1324T>C (p.Leu442=)
c.1273T>C (p.Leu425=)
c.1159T>C (p.Leu387=)
c.1264T>C (p.Leu422=)
c.1114T>C (p.Leu372=)
c.1006T>C (p.Leu336=)
 gnomAD v4
2g.224503723A>TCA350827348CUL3c.1306T>A (p.Leu436Met)
c.1108T>A (p.Leu370Met)
c.1234T>A (p.Leu412Met)
n.602T>A
c.30T>A (p.Thr10=)
c.1324T>A (p.Leu442Met)
c.1273T>A (p.Leu425Met)
c.1159T>A (p.Leu387Met)
c.1264T>A (p.Leu422Met)
c.1114T>A (p.Leu372Met)
c.1006T>A (p.Leu336Met)
 dbSNP
2g.224503724G>ACA350827351CUL3c.1305C>T (p.His435=)
c.1107C>T (p.His369=)
c.1233C>T (p.His411=)
n.601C>T
c.29C>T (p.Thr10Ile)
c.1323C>T (p.His441=)
c.1272C>T (p.His424=)
c.1158C>T (p.His386=)
c.1263C>T (p.His421=)
c.1113C>T (p.His371=)
c.1005C>T (p.His335=)
 dbSNP gnomAD v3 gnomAD v4
2g.224503724G>CCA350827354CUL3c.1305C>G (p.His435Gln)
c.1107C>G (p.His369Gln)
c.1233C>G (p.His411Gln)
n.601C>G
c.29C>G (p.Thr10Ser)
c.1323C>G (p.His441Gln)
c.1272C>G (p.His424Gln)
c.1158C>G (p.His386Gln)
c.1263C>G (p.His421Gln)
c.1113C>G (p.His371Gln)
c.1005C>G (p.His335Gln)
 dbSNP
2g.224503724G=CA1331555940CUL3c.1305C= (p.His435=)
c.1107C= (p.His369=)
c.1233C= (p.His411=)
n.601C=
c.29C= (p.Thr10=)
c.1323C= (p.His441=)
c.1272C= (p.His424=)
c.1158C= (p.His386=)
c.1263C= (p.His421=)
c.1113C= (p.His371=)
c.1005C= (p.His335=)
2g.224503724G>TCA350827357CUL3c.1305C>A (p.His435Gln)
c.1107C>A (p.His369Gln)
c.1233C>A (p.His411Gln)
n.601C>A
c.29C>A (p.Thr10Asn)
c.1323C>A (p.His441Gln)
c.1272C>A (p.His424Gln)
c.1158C>A (p.His386Gln)
c.1263C>A (p.His421Gln)
c.1113C>A (p.His371Gln)
c.1005C>A (p.His335Gln)
2g.224503725T>ACA350827361CUL3c.1304A>T (p.His435Leu)
c.1106A>T (p.His369Leu)
c.1232A>T (p.His411Leu)
n.600A>T
c.28A>T (p.Thr10Ser)
c.1322A>T (p.His441Leu)
c.1271A>T (p.His424Leu)
c.1157A>T (p.His386Leu)
c.1262A>T (p.His421Leu)
c.1112A>T (p.His371Leu)
c.1004A>T (p.His335Leu)
 dbSNP
2g.224503725T>CCA350827364CUL3c.1304A>G (p.His435Arg)
c.1106A>G (p.His369Arg)
c.1232A>G (p.His411Arg)
n.600A>G
c.28A>G (p.Thr10Ala)
c.1322A>G (p.His441Arg)
c.1271A>G (p.His424Arg)
c.1157A>G (p.His386Arg)
c.1262A>G (p.His421Arg)
c.1112A>G (p.His371Arg)
c.1004A>G (p.His335Arg)
2g.224503725T>GCA350827366CUL3c.1304A>C (p.His435Pro)
c.1106A>C (p.His369Pro)
c.1232A>C (p.His411Pro)
n.600A>C
c.28A>C (p.Thr10Pro)
c.1322A>C (p.His441Pro)
c.1271A>C (p.His424Pro)
c.1157A>C (p.His386Pro)
c.1262A>C (p.His421Pro)
c.1112A>C (p.His371Pro)
c.1004A>C (p.His335Pro)
 dbSNP
2g.224503726G>ACA350827370CUL3c.1303C>T (p.His435Tyr)
c.1105C>T (p.His369Tyr)
c.1231C>T (p.His411Tyr)
n.599C>T
c.27C>T (p.Asn9=)
c.1321C>T (p.His441Tyr)
c.1270C>T (p.His424Tyr)
c.1156C>T (p.His386Tyr)
c.1261C>T (p.His421Tyr)
c.1111C>T (p.His371Tyr)
c.1003C>T (p.His335Tyr)
 dbSNP
2g.224503726G>CCA350827373CUL3c.1303C>G (p.His435Asp)
c.1105C>G (p.His369Asp)
c.1231C>G (p.His411Asp)
n.599C>G
c.27C>G (p.Asn9Lys)
c.1321C>G (p.His441Asp)
c.1270C>G (p.His424Asp)
c.1156C>G (p.His386Asp)
c.1261C>G (p.His421Asp)
c.1111C>G (p.His371Asp)
c.1003C>G (p.His335Asp)
 dbSNP
2g.224503726G>TCA350827375CUL3c.1303C>A (p.His435Asn)
c.1105C>A (p.His369Asn)
c.1231C>A (p.His411Asn)
n.599C>A
c.27C>A (p.Asn9Lys)
c.1321C>A (p.His441Asn)
c.1270C>A (p.His424Asn)
c.1156C>A (p.His386Asn)
c.1261C>A (p.His421Asn)
c.1111C>A (p.His371Asn)
c.1003C>A (p.His335Asn)
2g.224503727T>ACA350827378CUL3c.1302A>T (p.Gln434His)
c.1104A>T (p.Gln368His)
c.1230A>T (p.Gln410His)
n.598A>T
c.26A>T (p.Asn9Ile)
c.1320A>T (p.Gln440His)
c.1269A>T (p.Gln423His)
c.1155A>T (p.Gln385His)
c.1260A>T (p.Gln420His)
c.1110A>T (p.Gln370His)
c.1002A>T (p.Gln334His)
 dbSNP
2g.224503727T>CCA66534322CUL3c.1302A>G (p.Gln434=)
c.1104A>G (p.Gln368=)
c.1230A>G (p.Gln410=)
n.598A>G
c.26A>G (p.Asn9Ser)
c.1320A>G (p.Gln440=)
c.1269A>G (p.Gln423=)
c.1155A>G (p.Gln385=)
c.1260A>G (p.Gln420=)
c.1110A>G (p.Gln370=)
c.1002A>G (p.Gln334=)
 dbSNP
2g.224503727T>GCA350827382CUL3c.1302A>C (p.Gln434His)
c.1104A>C (p.Gln368His)
c.1230A>C (p.Gln410His)
n.598A>C
c.26A>C (p.Asn9Thr)
c.1320A>C (p.Gln440His)
c.1269A>C (p.Gln423His)
c.1155A>C (p.Gln385His)
c.1260A>C (p.Gln420His)
c.1110A>C (p.Gln370His)
c.1002A>C (p.Gln334His)
2g.224503727T=CA1331555941CUL3c.1302A= (p.Gln434=)
c.1104A= (p.Gln368=)
c.1230A= (p.Gln410=)
n.598A=
c.26A= (p.Asn9=)
c.1320A= (p.Gln440=)
c.1269A= (p.Gln423=)
c.1155A= (p.Gln385=)
c.1260A= (p.Gln420=)
c.1110A= (p.Gln370=)
c.1002A= (p.Gln334=)
2g.224503728T>ACA350827386CUL3c.1301A>T (p.Gln434Leu)
c.1103A>T (p.Gln368Leu)
c.1229A>T (p.Gln410Leu)
n.597A>T
c.25A>T (p.Asn9Tyr)
c.1319A>T (p.Gln440Leu)
c.1268A>T (p.Gln423Leu)
c.1154A>T (p.Gln385Leu)
c.1259A>T (p.Gln420Leu)
c.1109A>T (p.Gln370Leu)
c.1001A>T (p.Gln334Leu)
 dbSNP
2g.224503728T>CCA350827391CUL3c.1301A>G (p.Gln434Arg)
c.1103A>G (p.Gln368Arg)
c.1229A>G (p.Gln410Arg)
n.597A>G
c.25A>G (p.Asn9Asp)
c.1319A>G (p.Gln440Arg)
c.1268A>G (p.Gln423Arg)
c.1154A>G (p.Gln385Arg)
c.1259A>G (p.Gln420Arg)
c.1109A>G (p.Gln370Arg)
c.1001A>G (p.Gln334Arg)
2g.224503728T>GCA350827388CUL3c.1301A>C (p.Gln434Pro)
c.1103A>C (p.Gln368Pro)
c.1229A>C (p.Gln410Pro)
n.597A>C
c.25A>C (p.Asn9His)
c.1319A>C (p.Gln440Pro)
c.1268A>C (p.Gln423Pro)
c.1154A>C (p.Gln385Pro)
c.1259A>C (p.Gln420Pro)
c.1109A>C (p.Gln370Pro)
c.1001A>C (p.Gln334Pro)
2g.224503729G>ACA350827395CUL3c.1300C>T (p.Gln434Ter)
c.1102C>T (p.Gln368Ter)
c.1228C>T (p.Gln410Ter)
n.596C>T
c.24C>T (p.Asn8=)
c.1318C>T (p.Gln440Ter)
c.1267C>T (p.Gln423Ter)
c.1153C>T (p.Gln385Ter)
c.1258C>T (p.Gln420Ter)
c.1108C>T (p.Gln370Ter)
c.1000C>T (p.Gln334Ter)
2g.224503729G>CCA350827397CUL3c.1300C>G (p.Gln434Glu)
c.1102C>G (p.Gln368Glu)
c.1228C>G (p.Gln410Glu)
n.596C>G
c.24C>G (p.Asn8Lys)
c.1318C>G (p.Gln440Glu)
c.1267C>G (p.Gln423Glu)
c.1153C>G (p.Gln385Glu)
c.1258C>G (p.Gln420Glu)
c.1108C>G (p.Gln370Glu)
c.1000C>G (p.Gln334Glu)
2g.224503729G>TCA350827400CUL3c.1300C>A (p.Gln434Lys)
c.1102C>A (p.Gln368Lys)
c.1228C>A (p.Gln410Lys)
n.596C>A
c.24C>A (p.Asn8Lys)
c.1318C>A (p.Gln440Lys)
c.1267C>A (p.Gln423Lys)
c.1153C>A (p.Gln385Lys)
c.1258C>A (p.Gln420Lys)
c.1108C>A (p.Gln370Lys)
c.1000C>A (p.Gln334Lys)
2g.224503730T>ACA350827402CUL3c.1299A>T (p.Lys433Asn)
c.1101A>T (p.Lys367Asn)
c.1227A>T (p.Lys409Asn)
n.595A>T
c.23A>T (p.Asn8Ile)
c.1317A>T (p.Lys439Asn)
c.1266A>T (p.Lys422Asn)
c.1152A>T (p.Lys384Asn)
c.1257A>T (p.Lys419Asn)
c.1107A>T (p.Lys369Asn)
c.999A>T (p.Lys333Asn)
 dbSNP
2g.224503730T>CCA350827404CUL3c.1299A>G (p.Lys433=)
c.1101A>G (p.Lys367=)
c.1227A>G (p.Lys409=)
n.595A>G
c.23A>G (p.Asn8Ser)
c.1317A>G (p.Lys439=)
c.1266A>G (p.Lys422=)
c.1152A>G (p.Lys384=)
c.1257A>G (p.Lys419=)
c.1107A>G (p.Lys369=)
c.999A>G (p.Lys333=)
 gnomAD v4
2g.224503730T>GCA350827405CUL3c.1299A>C (p.Lys433Asn)
c.1101A>C (p.Lys367Asn)
c.1227A>C (p.Lys409Asn)
n.595A>C
c.23A>C (p.Asn8Thr)
c.1317A>C (p.Lys439Asn)
c.1266A>C (p.Lys422Asn)
c.1152A>C (p.Lys384Asn)
c.1257A>C (p.Lys419Asn)
c.1107A>C (p.Lys369Asn)
c.999A>C (p.Lys333Asn)
 dbSNP
2g.224503731T>ACA350827409CUL3c.1298A>T (p.Lys433Ile)
c.1100A>T (p.Lys367Ile)
c.1226A>T (p.Lys409Ile)
n.594A>T
c.22A>T (p.Asn8Tyr)
c.1316A>T (p.Lys439Ile)
c.1265A>T (p.Lys422Ile)
c.1151A>T (p.Lys384Ile)
c.1256A>T (p.Lys419Ile)
c.1106A>T (p.Lys369Ile)
c.998A>T (p.Lys333Ile)
 dbSNP
2g.224503731T>CCA350827410CUL3c.1298A>G (p.Lys433Arg)
c.1100A>G (p.Lys367Arg)
c.1226A>G (p.Lys409Arg)
n.594A>G
c.22A>G (p.Asn8Asp)
c.1316A>G (p.Lys439Arg)
c.1265A>G (p.Lys422Arg)
c.1151A>G (p.Lys384Arg)
c.1256A>G (p.Lys419Arg)
c.1106A>G (p.Lys369Arg)
c.998A>G (p.Lys333Arg)
2g.224503731T>GCA350827411CUL3c.1298A>C (p.Lys433Thr)
c.1100A>C (p.Lys367Thr)
c.1226A>C (p.Lys409Thr)
n.594A>C
c.22A>C (p.Asn8His)
c.1316A>C (p.Lys439Thr)
c.1265A>C (p.Lys422Thr)
c.1151A>C (p.Lys384Thr)
c.1256A>C (p.Lys419Thr)
c.1106A>C (p.Lys369Thr)
c.998A>C (p.Lys333Thr)
 dbSNP
2g.224503732T>ACA350827412CUL3c.1297A>T (p.Lys433Ter)
c.1099A>T (p.Lys367Ter)
c.1225A>T (p.Lys409Ter)
n.593A>T
c.21A>T (p.Ile7=)
c.1315A>T (p.Lys439Ter)
c.1264A>T (p.Lys422Ter)
c.1150A>T (p.Lys384Ter)
c.1255A>T (p.Lys419Ter)
c.1105A>T (p.Lys369Ter)
c.997A>T (p.Lys333Ter)
 dbSNP
2g.224503732T>CCA350827413CUL3c.1297A>G (p.Lys433Glu)
c.1099A>G (p.Lys367Glu)
c.1225A>G (p.Lys409Glu)
n.593A>G
c.21A>G (p.Ile7Met)
c.1315A>G (p.Lys439Glu)
c.1264A>G (p.Lys422Glu)
c.1150A>G (p.Lys384Glu)
c.1255A>G (p.Lys419Glu)
c.1105A>G (p.Lys369Glu)
c.997A>G (p.Lys333Glu)
2g.224503732T>GCA350827415CUL3c.1297A>C (p.Lys433Gln)
c.1099A>C (p.Lys367Gln)
c.1225A>C (p.Lys409Gln)
n.593A>C
c.21A>C (p.Ile7=)
c.1315A>C (p.Lys439Gln)
c.1264A>C (p.Lys422Gln)
c.1150A>C (p.Lys384Gln)
c.1255A>C (p.Lys419Gln)
c.1105A>C (p.Lys369Gln)
c.997A>C (p.Lys333Gln)
2g.224503733A>CCA350827420CUL3c.1296T>G (p.Tyr432Ter)
c.1098T>G (p.Tyr366Ter)
c.1224T>G (p.Tyr408Ter)
n.592T>G
c.20T>G (p.Ile7Arg)
c.1314T>G (p.Tyr438Ter)
c.1263T>G (p.Tyr421Ter)
c.1149T>G (p.Tyr383Ter)
c.1254T>G (p.Tyr418Ter)
c.1104T>G (p.Tyr368Ter)
c.996T>G (p.Tyr332Ter)
2g.224503733A>GCA350827417CUL3c.1296T>C (p.Tyr432=)
c.1098T>C (p.Tyr366=)
c.1224T>C (p.Tyr408=)
n.592T>C
c.20T>C (p.Ile7Thr)
c.1314T>C (p.Tyr438=)
c.1263T>C (p.Tyr421=)
c.1149T>C (p.Tyr383=)
c.1254T>C (p.Tyr418=)
c.1104T>C (p.Tyr368=)
c.996T>C (p.Tyr332=)
2g.224503733A>TCA350827418CUL3c.1296T>A (p.Tyr432Ter)
c.1098T>A (p.Tyr366Ter)
c.1224T>A (p.Tyr408Ter)
n.592T>A
c.20T>A (p.Ile7Lys)
c.1314T>A (p.Tyr438Ter)
c.1263T>A (p.Tyr421Ter)
c.1149T>A (p.Tyr383Ter)
c.1254T>A (p.Tyr418Ter)
c.1104T>A (p.Tyr368Ter)
c.996T>A (p.Tyr332Ter)
 dbSNP
2g.224503734T>ACA350827421CUL3c.1295A>T (p.Tyr432Phe)
c.1097A>T (p.Tyr366Phe)
c.1223A>T (p.Tyr408Phe)
n.591A>T
c.19A>T (p.Ile7Leu)
c.1313A>T (p.Tyr438Phe)
c.1262A>T (p.Tyr421Phe)
c.1148A>T (p.Tyr383Phe)
c.1253A>T (p.Tyr418Phe)
c.1103A>T (p.Tyr368Phe)
c.995A>T (p.Tyr332Phe)
2g.224503734T>CCA350827423CUL3c.1295A>G (p.Tyr432Cys)
c.1097A>G (p.Tyr366Cys)
c.1223A>G (p.Tyr408Cys)
n.591A>G
c.19A>G (p.Ile7Val)
c.1313A>G (p.Tyr438Cys)
c.1262A>G (p.Tyr421Cys)
c.1148A>G (p.Tyr383Cys)
c.1253A>G (p.Tyr418Cys)
c.1103A>G (p.Tyr368Cys)
c.995A>G (p.Tyr332Cys)
2g.224503734T>GCA350827425CUL3c.1295A>C (p.Tyr432Ser)
c.1097A>C (p.Tyr366Ser)
c.1223A>C (p.Tyr408Ser)
n.591A>C
c.19A>C (p.Ile7Leu)
c.1313A>C (p.Tyr438Ser)
c.1262A>C (p.Tyr421Ser)
c.1148A>C (p.Tyr383Ser)
c.1253A>C (p.Tyr418Ser)
c.1103A>C (p.Tyr368Ser)
c.995A>C (p.Tyr332Ser)
2g.224503735A>CCA350827427CUL3c.1294T>G (p.Tyr432Asp)
c.1096T>G (p.Tyr366Asp)
c.1222T>G (p.Tyr408Asp)
n.590T>G
c.18T>G (p.Ile6Met)
c.1312T>G (p.Tyr438Asp)
c.1261T>G (p.Tyr421Asp)
c.1147T>G (p.Tyr383Asp)
c.1252T>G (p.Tyr418Asp)
c.1102T>G (p.Tyr368Asp)
c.994T>G (p.Tyr332Asp)
 ClinVar dbSNP
2g.224503735A>GCA350827428CUL3c.1294T>C (p.Tyr432His)
c.1096T>C (p.Tyr366His)
c.1222T>C (p.Tyr408His)
n.590T>C
c.18T>C (p.Ile6=)
c.1312T>C (p.Tyr438His)
c.1261T>C (p.Tyr421His)
c.1147T>C (p.Tyr383His)
c.1252T>C (p.Tyr418His)
c.1102T>C (p.Tyr368His)
c.994T>C (p.Tyr332His)
2g.224503735A>TCA350827431CUL3c.1294T>A (p.Tyr432Asn)
c.1096T>A (p.Tyr366Asn)
c.1222T>A (p.Tyr408Asn)
n.590T>A
c.18T>A (p.Ile6=)
c.1312T>A (p.Tyr438Asn)
c.1261T>A (p.Tyr421Asn)
c.1147T>A (p.Tyr383Asn)
c.1252T>A (p.Tyr418Asn)
c.1102T>A (p.Tyr368Asn)
c.994T>A (p.Tyr332Asn)
 dbSNP
2g.224503736delCA2701738708CUL3c.1294del (p.Tyr432IlefsTer23)
c.1096del (p.Tyr366IlefsTer23)
c.1222del (p.Tyr408IlefsTer23)
n.590del
c.18del (p.Ile7Ter)
c.1312del (p.Tyr438IlefsTer23)
c.1261del (p.Tyr421IlefsTer23)
c.1147del (p.Tyr383IlefsTer23)
c.1252del (p.Tyr418IlefsTer23)
c.1102del (p.Tyr368IlefsTer23)
c.994del (p.Tyr332IlefsTer23)
 dbSNP
2g.224503736A=CA1331555942CUL3c.1293T= (p.Tyr431=)
c.1095T= (p.Tyr365=)
c.1221T= (p.Tyr407=)
n.589T=
c.17T= (p.Ile6=)
c.1311T= (p.Tyr437=)
c.1260T= (p.Tyr420=)
c.1146T= (p.Tyr382=)
c.1251T= (p.Tyr417=)
c.1101T= (p.Tyr367=)
c.993T= (p.Tyr331=)
2g.224503736A>CCA350827433CUL3c.1293T>G (p.Tyr431Ter)
c.1095T>G (p.Tyr365Ter)
c.1221T>G (p.Tyr407Ter)
n.589T>G
c.17T>G (p.Ile6Ser)
c.1311T>G (p.Tyr437Ter)
c.1260T>G (p.Tyr420Ter)
c.1146T>G (p.Tyr382Ter)
c.1251T>G (p.Tyr417Ter)
c.1101T>G (p.Tyr367Ter)
c.993T>G (p.Tyr331Ter)
2g.224503736A>GCA2140019CUL3c.1293T>C (p.Tyr431=)
c.1095T>C (p.Tyr365=)
c.1221T>C (p.Tyr407=)
n.589T>C
c.17T>C (p.Ile6Thr)
c.1311T>C (p.Tyr437=)
c.1260T>C (p.Tyr420=)
c.1146T>C (p.Tyr382=)
c.1251T>C (p.Tyr417=)
c.1101T>C (p.Tyr367=)
c.993T>C (p.Tyr331=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.224503736A>TCA350827435CUL3c.1293T>A (p.Tyr431Ter)
c.1095T>A (p.Tyr365Ter)
c.1221T>A (p.Tyr407Ter)
n.589T>A
c.17T>A (p.Ile6Asn)
c.1311T>A (p.Tyr437Ter)
c.1260T>A (p.Tyr420Ter)
c.1146T>A (p.Tyr382Ter)
c.1251T>A (p.Tyr417Ter)
c.1101T>A (p.Tyr367Ter)
c.993T>A (p.Tyr331Ter)
 dbSNP
2g.224503737T>ACA350827437CUL3c.1292A>T (p.Tyr431Phe)
c.1094A>T (p.Tyr365Phe)
c.1220A>T (p.Tyr407Phe)
n.588A>T
c.16A>T (p.Ile6Phe)
c.1310A>T (p.Tyr437Phe)
c.1259A>T (p.Tyr420Phe)
c.1145A>T (p.Tyr382Phe)
c.1250A>T (p.Tyr417Phe)
c.1100A>T (p.Tyr367Phe)
c.992A>T (p.Tyr331Phe)
 dbSNP
2g.224503737T>CCA350827439CUL3c.1292A>G (p.Tyr431Cys)
c.1094A>G (p.Tyr365Cys)
c.1220A>G (p.Tyr407Cys)
n.588A>G
c.16A>G (p.Ile6Val)
c.1310A>G (p.Tyr437Cys)
c.1259A>G (p.Tyr420Cys)
c.1145A>G (p.Tyr382Cys)
c.1250A>G (p.Tyr417Cys)
c.1100A>G (p.Tyr367Cys)
c.992A>G (p.Tyr331Cys)
2g.224503737T>GCA350827441CUL3c.1292A>C (p.Tyr431Ser)
c.1094A>C (p.Tyr365Ser)
c.1220A>C (p.Tyr407Ser)
n.588A>C
c.16A>C (p.Ile6Leu)
c.1310A>C (p.Tyr437Ser)
c.1259A>C (p.Tyr420Ser)
c.1145A>C (p.Tyr382Ser)
c.1250A>C (p.Tyr417Ser)
c.1100A>C (p.Tyr367Ser)
c.992A>C (p.Tyr331Ser)
2g.224503738A>CCA350827446CUL3c.1291T>G (p.Tyr431Asp)
c.1093T>G (p.Tyr365Asp)
c.1219T>G (p.Tyr407Asp)
n.587T>G
c.15T>G (p.Val5=)
c.1309T>G (p.Tyr437Asp)
c.1258T>G (p.Tyr420Asp)
c.1144T>G (p.Tyr382Asp)
c.1249T>G (p.Tyr417Asp)
c.1099T>G (p.Tyr367Asp)
c.991T>G (p.Tyr331Asp)
2g.224503738A>GCA350827447CUL3c.1291T>C (p.Tyr431His)
c.1093T>C (p.Tyr365His)
c.1219T>C (p.Tyr407His)
n.587T>C
c.15T>C (p.Val5=)
c.1309T>C (p.Tyr437His)
c.1258T>C (p.Tyr420His)
c.1144T>C (p.Tyr382His)
c.1249T>C (p.Tyr417His)
c.1099T>C (p.Tyr367His)
c.991T>C (p.Tyr331His)
2g.224503738A>TCA350827444CUL3c.1291T>A (p.Tyr431Asn)
c.1093T>A (p.Tyr365Asn)
c.1219T>A (p.Tyr407Asn)
n.587T>A
c.15T>A (p.Val5=)
c.1309T>A (p.Tyr437Asn)
c.1258T>A (p.Tyr420Asn)
c.1144T>A (p.Tyr382Asn)
c.1249T>A (p.Tyr417Asn)
c.1099T>A (p.Tyr367Asn)
c.991T>A (p.Tyr331Asn)
 dbSNP
2g.224503739A=CA1331555943CUL3c.1290T= (p.Arg430=)
c.1092T= (p.Arg364=)
c.1218T= (p.Arg406=)
n.586T=
c.14T= (p.Val5=)
c.1308T= (p.Arg436=)
c.1257T= (p.Arg419=)
c.1143T= (p.Arg381=)
c.1248T= (p.Arg416=)
c.1098T= (p.Arg366=)
c.990T= (p.Arg330=)
2g.224503739A>CCA350827449CUL3c.1290T>G (p.Arg430=)
c.1092T>G (p.Arg364=)
c.1218T>G (p.Arg406=)
n.586T>G
c.14T>G (p.Val5Gly)
c.1308T>G (p.Arg436=)
c.1257T>G (p.Arg419=)
c.1143T>G (p.Arg381=)
c.1248T>G (p.Arg416=)
c.1098T>G (p.Arg366=)
c.990T>G (p.Arg330=)
 dbSNP gnomAD v2
2g.224503739A>GCA350827452CUL3c.1290T>C (p.Arg430=)
c.1092T>C (p.Arg364=)
c.1218T>C (p.Arg406=)
n.586T>C
c.14T>C (p.Val5Ala)
c.1308T>C (p.Arg436=)
c.1257T>C (p.Arg419=)
c.1143T>C (p.Arg381=)
c.1248T>C (p.Arg416=)
c.1098T>C (p.Arg366=)
c.990T>C (p.Arg330=)
 dbSNP gnomAD v2 gnomAD v4
2g.224503739A>TCA350827450CUL3c.1290T>A (p.Arg430=)
c.1092T>A (p.Arg364=)
c.1218T>A (p.Arg406=)
n.586T>A
c.14T>A (p.Val5Asp)
c.1308T>A (p.Arg436=)
c.1257T>A (p.Arg419=)
c.1143T>A (p.Arg381=)
c.1248T>A (p.Arg416=)
c.1098T>A (p.Arg366=)
c.990T>A (p.Arg330=)
 dbSNP
2g.224503740C>ACA350827454CUL3c.1289G>T (p.Arg430Leu)
c.1091G>T (p.Arg364Leu)
c.1217G>T (p.Arg406Leu)
n.585G>T
c.13G>T (p.Val5Phe)
c.1307G>T (p.Arg436Leu)
c.1256G>T (p.Arg419Leu)
c.1142G>T (p.Arg381Leu)
c.1247G>T (p.Arg416Leu)
c.1097G>T (p.Arg366Leu)
c.989G>T (p.Arg330Leu)
 dbSNP
2g.224503740C>GCA350827456CUL3c.1289G>C (p.Arg430Pro)
c.1091G>C (p.Arg364Pro)
c.1217G>C (p.Arg406Pro)
n.585G>C
c.13G>C (p.Val5Leu)
c.1307G>C (p.Arg436Pro)
c.1256G>C (p.Arg419Pro)
c.1142G>C (p.Arg381Pro)
c.1247G>C (p.Arg416Pro)
c.1097G>C (p.Arg366Pro)
c.989G>C (p.Arg330Pro)
 dbSNP
2g.224503740C>TCA350827457CUL3c.1289G>A (p.Arg430His)
c.1091G>A (p.Arg364His)
c.1217G>A (p.Arg406His)
n.585G>A
c.13G>A (p.Val5Ile)
c.1307G>A (p.Arg436His)
c.1256G>A (p.Arg419His)
c.1142G>A (p.Arg381His)
c.1247G>A (p.Arg416His)
c.1097G>A (p.Arg366His)
c.989G>A (p.Arg330His)
 ClinVar dbSNP gnomAD v4
2g.224503741G>ACA350827459CUL3c.1288C>T (p.Arg430Cys)
c.1090C>T (p.Arg364Cys)
c.1216C>T (p.Arg406Cys)
n.584C>T
c.12C>T (p.Asn4=)
c.1306C>T (p.Arg436Cys)
c.1255C>T (p.Arg419Cys)
c.1141C>T (p.Arg381Cys)
c.1246C>T (p.Arg416Cys)
c.1096C>T (p.Arg366Cys)
c.988C>T (p.Arg330Cys)
 dbSNP gnomAD v2 COSMIC
2g.224503741G>CCA350827461CUL3c.1288C>G (p.Arg430Gly)
c.1090C>G (p.Arg364Gly)
c.1216C>G (p.Arg406Gly)
n.584C>G
c.12C>G (p.Asn4Lys)
c.1306C>G (p.Arg436Gly)
c.1255C>G (p.Arg419Gly)
c.1141C>G (p.Arg381Gly)
c.1246C>G (p.Arg416Gly)
c.1096C>G (p.Arg366Gly)
c.988C>G (p.Arg330Gly)
 dbSNP
2g.224503741G=CA1331555944CUL3c.1288C= (p.Arg430=)
c.1090C= (p.Arg364=)
c.1216C= (p.Arg406=)
n.584C=
c.12C= (p.Asn4=)
c.1306C= (p.Arg436=)
c.1255C= (p.Arg419=)
c.1141C= (p.Arg381=)
c.1246C= (p.Arg416=)
c.1096C= (p.Arg366=)
c.988C= (p.Arg330=)
2g.224503741G>TCA350827463CUL3c.1288C>A (p.Arg430Ser)
c.1090C>A (p.Arg364Ser)
c.1216C>A (p.Arg406Ser)
n.584C>A
c.12C>A (p.Asn4Lys)
c.1306C>A (p.Arg436Ser)
c.1255C>A (p.Arg419Ser)
c.1141C>A (p.Arg381Ser)
c.1246C>A (p.Arg416Ser)
c.1096C>A (p.Arg366Ser)
c.988C>A (p.Arg330Ser)
 dbSNP gnomAD v4
2g.224503742T>ACA350827469CUL3c.1287A>T (p.Glu429Asp)
c.1089A>T (p.Glu363Asp)
c.1215A>T (p.Glu405Asp)
n.583A>T
c.11A>T (p.Asn4Ile)
c.1305A>T (p.Glu435Asp)
c.1254A>T (p.Glu418Asp)
c.1140A>T (p.Glu380Asp)
c.1245A>T (p.Glu415Asp)
c.1095A>T (p.Glu365Asp)
c.987A>T (p.Glu329Asp)
 dbSNP
2g.224503742T>CCA350827467CUL3c.1287A>G (p.Glu429=)
c.1089A>G (p.Glu363=)
c.1215A>G (p.Glu405=)
n.583A>G
c.11A>G (p.Asn4Ser)
c.1305A>G (p.Glu435=)
c.1254A>G (p.Glu418=)
c.1140A>G (p.Glu380=)
c.1245A>G (p.Glu415=)
c.1095A>G (p.Glu365=)
c.987A>G (p.Glu329=)
2g.224503742T>GCA350827465CUL3c.1287A>C (p.Glu429Asp)
c.1089A>C (p.Glu363Asp)
c.1215A>C (p.Glu405Asp)
n.583A>C
c.11A>C (p.Asn4Thr)
c.1305A>C (p.Glu435Asp)
c.1254A>C (p.Glu418Asp)
c.1140A>C (p.Glu380Asp)
c.1245A>C (p.Glu415Asp)
c.1095A>C (p.Glu365Asp)
c.987A>C (p.Glu329Asp)
2g.224503743T>ACA350827471CUL3c.1286A>T (p.Glu429Val)
c.1088A>T (p.Glu363Val)
c.1214A>T (p.Glu405Val)
n.582A>T
c.10A>T (p.Asn4Tyr)
c.1304A>T (p.Glu435Val)
c.1253A>T (p.Glu418Val)
c.1139A>T (p.Glu380Val)
c.1244A>T (p.Glu415Val)
c.1094A>T (p.Glu365Val)
c.986A>T (p.Glu329Val)
 dbSNP
2g.224503743T>CCA350827473CUL3c.1286A>G (p.Glu429Gly)
c.1088A>G (p.Glu363Gly)
c.1214A>G (p.Glu405Gly)
n.582A>G
c.10A>G (p.Asn4Asp)
c.1304A>G (p.Glu435Gly)
c.1253A>G (p.Glu418Gly)
c.1139A>G (p.Glu380Gly)
c.1244A>G (p.Glu415Gly)
c.1094A>G (p.Glu365Gly)
c.986A>G (p.Glu329Gly)
 gnomAD v4
2g.224503743T>GCA350827474CUL3c.1286A>C (p.Glu429Ala)
c.1088A>C (p.Glu363Ala)
c.1214A>C (p.Glu405Ala)
n.582A>C
c.10A>C (p.Asn4His)
c.1304A>C (p.Glu435Ala)
c.1253A>C (p.Glu418Ala)
c.1139A>C (p.Glu380Ala)
c.1244A>C (p.Glu415Ala)
c.1094A>C (p.Glu365Ala)
c.986A>C (p.Glu329Ala)
2g.224503744C>ACA350827475CUL3c.1285G>T (p.Glu429Ter)
c.1087G>T (p.Glu363Ter)
c.1213G>T (p.Glu405Ter)
n.581G>T
c.9G>T (p.Leu3Phe)
c.1303G>T (p.Glu435Ter)
c.1252G>T (p.Glu418Ter)
c.1138G>T (p.Glu380Ter)
c.1243G>T (p.Glu415Ter)
c.1093G>T (p.Glu365Ter)
c.985G>T (p.Glu329Ter)
 dbSNP gnomAD v4
2g.224503744C=CA1331555945CUL3c.1285G= (p.Glu429=)
c.1087G= (p.Glu363=)
c.1213G= (p.Glu405=)
n.581G=
c.9G= (p.Leu3=)
c.1303G= (p.Glu435=)
c.1252G= (p.Glu418=)
c.1138G= (p.Glu380=)
c.1243G= (p.Glu415=)
c.1093G= (p.Glu365=)
c.985G= (p.Glu329=)
2g.224503744C>GCA350827476CUL3c.1285G>C (p.Glu429Gln)
c.1087G>C (p.Glu363Gln)
c.1213G>C (p.Glu405Gln)
n.581G>C
c.9G>C (p.Leu3Phe)
c.1303G>C (p.Glu435Gln)
c.1252G>C (p.Glu418Gln)
c.1138G>C (p.Glu380Gln)
c.1243G>C (p.Glu415Gln)
c.1093G>C (p.Glu365Gln)
c.985G>C (p.Glu329Gln)
 dbSNP
2g.224503744C>TCA350827477CUL3c.1285G>A (p.Glu429Lys)
c.1087G>A (p.Glu363Lys)
c.1213G>A (p.Glu405Lys)
n.581G>A
c.9G>A (p.Leu3=)
c.1303G>A (p.Glu435Lys)
c.1252G>A (p.Glu418Lys)
c.1138G>A (p.Glu380Lys)
c.1243G>A (p.Glu415Lys)
c.1093G>A (p.Glu365Lys)
c.985G>A (p.Glu329Lys)
 COSMIC
2g.224503745A=CA1331555946CUL3c.1284T= (p.Phe428=)
c.1086T= (p.Phe362=)
c.1212T= (p.Phe404=)
n.580T=
c.8T= (p.Leu3=)
c.1302T= (p.Phe434=)
c.1251T= (p.Phe417=)
c.1137T= (p.Phe379=)
c.1242T= (p.Phe414=)
c.1092T= (p.Phe364=)
c.984T= (p.Phe328=)
2g.224503745A>CCA350827478CUL3c.1284T>G (p.Phe428Leu)
c.1086T>G (p.Phe362Leu)
c.1212T>G (p.Phe404Leu)
n.580T>G
c.8T>G (p.Leu3Trp)
c.1302T>G (p.Phe434Leu)
c.1251T>G (p.Phe417Leu)
c.1137T>G (p.Phe379Leu)
c.1242T>G (p.Phe414Leu)
c.1092T>G (p.Phe364Leu)
c.984T>G (p.Phe328Leu)
2g.224503745A>GCA350827481CUL3c.1284T>C (p.Phe428=)
c.1086T>C (p.Phe362=)
c.1212T>C (p.Phe404=)
n.580T>C
c.8T>C (p.Leu3Ser)
c.1302T>C (p.Phe434=)
c.1251T>C (p.Phe417=)
c.1137T>C (p.Phe379=)
c.1242T>C (p.Phe414=)
c.1092T>C (p.Phe364=)
c.984T>C (p.Phe328=)
 dbSNP gnomAD v4
2g.224503745A>TCA350827480CUL3c.1284T>A (p.Phe428Leu)
c.1086T>A (p.Phe362Leu)
c.1212T>A (p.Phe404Leu)
n.580T>A
c.8T>A (p.Leu3Ter)
c.1302T>A (p.Phe434Leu)
c.1251T>A (p.Phe417Leu)
c.1137T>A (p.Phe379Leu)
c.1242T>A (p.Phe414Leu)
c.1092T>A (p.Phe364Leu)
c.984T>A (p.Phe328Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.224503746A>CCA350827483CUL3c.1283T>G (p.Phe428Cys)
c.1085T>G (p.Phe362Cys)
c.1211T>G (p.Phe404Cys)
n.579T>G
c.7T>G (p.Leu3Val)
c.1301T>G (p.Phe434Cys)
c.1250T>G (p.Phe417Cys)
c.1136T>G (p.Phe379Cys)
c.1241T>G (p.Phe414Cys)
c.1091T>G (p.Phe364Cys)
c.983T>G (p.Phe328Cys)
2g.224503746A>GCA350827484CUL3c.1283T>C (p.Phe428Ser)
c.1085T>C (p.Phe362Ser)
c.1211T>C (p.Phe404Ser)
n.579T>C
c.7T>C (p.Leu3=)
c.1301T>C (p.Phe434Ser)
c.1250T>C (p.Phe417Ser)
c.1136T>C (p.Phe379Ser)
c.1241T>C (p.Phe414Ser)
c.1091T>C (p.Phe364Ser)
c.983T>C (p.Phe328Ser)
 dbSNP
2g.224503746A>TCA350827486CUL3c.1283T>A (p.Phe428Tyr)
c.1085T>A (p.Phe362Tyr)
c.1211T>A (p.Phe404Tyr)
n.579T>A
c.7T>A (p.Leu3Met)
c.1301T>A (p.Phe434Tyr)
c.1250T>A (p.Phe417Tyr)
c.1136T>A (p.Phe379Tyr)
c.1241T>A (p.Phe414Tyr)
c.1091T>A (p.Phe364Tyr)
c.983T>A (p.Phe328Tyr)
 dbSNP
2g.224503747A>CCA350827488CUL3c.1282T>G (p.Phe428Val)
c.1084T>G (p.Phe362Val)
c.1210T>G (p.Phe404Val)
n.578T>G
c.6T>G (p.Tyr2Ter)
c.1300T>G (p.Phe434Val)
c.1249T>G (p.Phe417Val)
c.1135T>G (p.Phe379Val)
c.1240T>G (p.Phe414Val)
c.1090T>G (p.Phe364Val)
c.982T>G (p.Phe328Val)
2g.224503747A>GCA350827489CUL3c.1282T>C (p.Phe428Leu)
c.1084T>C (p.Phe362Leu)
c.1210T>C (p.Phe404Leu)
n.578T>C
c.6T>C (p.Tyr2=)
c.1300T>C (p.Phe434Leu)
c.1249T>C (p.Phe417Leu)
c.1135T>C (p.Phe379Leu)
c.1240T>C (p.Phe414Leu)
c.1090T>C (p.Phe364Leu)
c.982T>C (p.Phe328Leu)
2g.224503747A>TCA350827490CUL3c.1282T>A (p.Phe428Ile)
c.1084T>A (p.Phe362Ile)
c.1210T>A (p.Phe404Ile)
n.578T>A
c.6T>A (p.Tyr2Ter)
c.1300T>A (p.Phe434Ile)
c.1249T>A (p.Phe417Ile)
c.1135T>A (p.Phe379Ile)
c.1240T>A (p.Phe414Ile)
c.1090T>A (p.Phe364Ile)
c.982T>A (p.Phe328Ile)
 dbSNP
2g.224503748T>ACA350827492CUL3c.1281A>T (p.Val427=)
c.1083A>T (p.Val361=)
c.1209A>T (p.Val403=)
n.577A>T
c.5A>T (p.Tyr2Phe)
c.1299A>T (p.Val433=)
c.1248A>T (p.Val416=)
c.1134A>T (p.Val378=)
c.1239A>T (p.Val413=)
c.1089A>T (p.Val363=)
c.981A>T (p.Val327=)
 dbSNP
2g.224503748T>CCA350827494CUL3c.1281A>G (p.Val427=)
c.1083A>G (p.Val361=)
c.1209A>G (p.Val403=)
n.577A>G
c.5A>G (p.Tyr2Cys)
c.1299A>G (p.Val433=)
c.1248A>G (p.Val416=)
c.1134A>G (p.Val378=)
c.1239A>G (p.Val413=)
c.1089A>G (p.Val363=)
c.981A>G (p.Val327=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.224503748T>GCA350827496CUL3c.1281A>C (p.Val427=)
c.1083A>C (p.Val361=)
c.1209A>C (p.Val403=)
n.577A>C
c.5A>C (p.Tyr2Ser)
c.1299A>C (p.Val433=)
c.1248A>C (p.Val416=)
c.1134A>C (p.Val378=)
c.1239A>C (p.Val413=)
c.1089A>C (p.Val363=)
c.981A>C (p.Val327=)
2g.224503748T=CA1331555947CUL3c.1281A= (p.Val427=)
c.1083A= (p.Val361=)
c.1209A= (p.Val403=)
n.577A=
c.5A= (p.Tyr2=)
c.1299A= (p.Val433=)
c.1248A= (p.Val416=)
c.1134A= (p.Val378=)
c.1239A= (p.Val413=)
c.1089A= (p.Val363=)
c.981A= (p.Val327=)
2g.224503749A>CCA350827498CUL3c.1280T>G (p.Val427Gly)
c.1082T>G (p.Val361Gly)
c.1208T>G (p.Val403Gly)
n.576T>G
c.4T>G (p.Tyr2Asp)
c.1298T>G (p.Val433Gly)
c.1247T>G (p.Val416Gly)
c.1133T>G (p.Val378Gly)
c.1238T>G (p.Val413Gly)
c.1088T>G (p.Val363Gly)
c.980T>G (p.Val327Gly)
 dbSNP
2g.224503749A>GCA350827499CUL3c.1280T>C (p.Val427Ala)
c.1082T>C (p.Val361Ala)
c.1208T>C (p.Val403Ala)
n.576T>C
c.4T>C (p.Tyr2His)
c.1298T>C (p.Val433Ala)
c.1247T>C (p.Val416Ala)
c.1133T>C (p.Val378Ala)
c.1238T>C (p.Val413Ala)
c.1088T>C (p.Val363Ala)
c.980T>C (p.Val327Ala)
2g.224503749A>TCA350827501CUL3c.1280T>A (p.Val427Glu)
c.1082T>A (p.Val361Glu)
c.1208T>A (p.Val403Glu)
n.576T>A
c.4T>A (p.Tyr2Asn)
c.1298T>A (p.Val433Glu)
c.1247T>A (p.Val416Glu)
c.1133T>A (p.Val378Glu)
c.1238T>A (p.Val413Glu)
c.1088T>A (p.Val363Glu)
c.980T>A (p.Val327Glu)
 dbSNP
2g.224503750C>ACA350827504CUL3c.1279G>T (p.Val427Leu)
c.1081G>T (p.Val361Leu)
c.1207G>T (p.Val403Leu)
n.575G>T
c.3G>T (p.Met1Ile)
c.1297G>T (p.Val433Leu)
c.1246G>T (p.Val416Leu)
c.1132G>T (p.Val378Leu)
c.1237G>T (p.Val413Leu)
c.1087G>T (p.Val363Leu)
c.979G>T (p.Val327Leu)
2g.224503750C>GCA350827506CUL3c.1279G>C (p.Val427Leu)
c.1081G>C (p.Val361Leu)
c.1207G>C (p.Val403Leu)
n.575G>C
c.3G>C (p.Met1Ile)
c.1297G>C (p.Val433Leu)
c.1246G>C (p.Val416Leu)
c.1132G>C (p.Val378Leu)
c.1237G>C (p.Val413Leu)
c.1087G>C (p.Val363Leu)
c.979G>C (p.Val327Leu)
 dbSNP
2g.224503750C>TCA350827505CUL3c.1279G>A (p.Val427Ile)
c.1081G>A (p.Val361Ile)
c.1207G>A (p.Val403Ile)
n.575G>A
c.3G>A (p.Met1Ile)
c.1297G>A (p.Val433Ile)
c.1246G>A (p.Val416Ile)
c.1132G>A (p.Val378Ile)
c.1237G>A (p.Val413Ile)
c.1087G>A (p.Val363Ile)
c.979G>A (p.Val327Ile)
 dbSNP
2g.224503751A=CA1331555948CUL3c.1278T= (p.Asp426=)
c.1080T= (p.Asp360=)
c.1206T= (p.Asp402=)
n.574T=
c.2T= (p.Met1=)
c.1296T= (p.Asp432=)
c.1245T= (p.Asp415=)
c.1131T= (p.Asp377=)
c.1236T= (p.Asp412=)
c.1086T= (p.Asp362=)
c.978T= (p.Asp326=)
2g.224503751A>CCA350827508CUL3c.1278T>G (p.Asp426Glu)
c.1080T>G (p.Asp360Glu)
c.1206T>G (p.Asp402Glu)
n.574T>G
c.2T>G (p.Met1Arg)
c.1296T>G (p.Asp432Glu)
c.1245T>G (p.Asp415Glu)
c.1131T>G (p.Asp377Glu)
c.1236T>G (p.Asp412Glu)
c.1086T>G (p.Asp362Glu)
c.978T>G (p.Asp326Glu)
2g.224503751A>GCA350827510CUL3c.1278T>C (p.Asp426=)
c.1080T>C (p.Asp360=)
c.1206T>C (p.Asp402=)
n.574T>C
c.2T>C (p.Met1Thr)
c.1296T>C (p.Asp432=)
c.1245T>C (p.Asp415=)
c.1131T>C (p.Asp377=)
c.1236T>C (p.Asp412=)
c.1086T>C (p.Asp362=)
c.978T>C (p.Asp326=)
 dbSNP gnomAD v2 gnomAD v4
2g.224503751A>TCA350827512CUL3c.1278T>A (p.Asp426Glu)
c.1080T>A (p.Asp360Glu)
c.1206T>A (p.Asp402Glu)
n.574T>A
c.2T>A (p.Met1Lys)
c.1296T>A (p.Asp432Glu)
c.1245T>A (p.Asp415Glu)
c.1131T>A (p.Asp377Glu)
c.1236T>A (p.Asp412Glu)
c.1086T>A (p.Asp362Glu)
c.978T>A (p.Asp326Glu)
 dbSNP
2g.224503752T>ACA350827514CUL3c.1277A>T (p.Asp426Val)
c.1079A>T (p.Asp360Val)
c.1205A>T (p.Asp402Val)
n.573A>T
c.1A>T (p.Met1Leu)
c.1295A>T (p.Asp432Val)
c.1244A>T (p.Asp415Val)
c.1130A>T (p.Asp377Val)
c.1235A>T (p.Asp412Val)
c.1085A>T (p.Asp362Val)
c.977A>T (p.Asp326Val)
2g.224503752T>CCA350827515CUL3c.1277A>G (p.Asp426Gly)
c.1079A>G (p.Asp360Gly)
c.1205A>G (p.Asp402Gly)
n.573A>G
c.1A>G (p.Met1Val)
c.1295A>G (p.Asp432Gly)
c.1244A>G (p.Asp415Gly)
c.1130A>G (p.Asp377Gly)
c.1235A>G (p.Asp412Gly)
c.1085A>G (p.Asp362Gly)
c.977A>G (p.Asp326Gly)
2g.224503752T>GCA350827518CUL3c.1277A>C (p.Asp426Ala)
c.1079A>C (p.Asp360Ala)
c.1205A>C (p.Asp402Ala)
n.573A>C
c.1A>C (p.Met1Leu)
c.1295A>C (p.Asp432Ala)
c.1244A>C (p.Asp415Ala)
c.1130A>C (p.Asp377Ala)
c.1235A>C (p.Asp412Ala)
c.1085A>C (p.Asp362Ala)
c.977A>C (p.Asp326Ala)
2g.224503753C>ACA350827521CUL3c.1276G>T (p.Asp426Tyr)
c.1078G>T (p.Asp360Tyr)
c.1204G>T (p.Asp402Tyr)
n.572G>T
c.-1G>T (n.-1G>T)
c.1294G>T (p.Asp432Tyr)
c.1243G>T (p.Asp415Tyr)
c.1129G>T (p.Asp377Tyr)
c.1234G>T (p.Asp412Tyr)
c.1084G>T (p.Asp362Tyr)
c.976G>T (p.Asp326Tyr)
 gnomAD v4
2g.224503753C>GCA350827519CUL3c.1276G>C (p.Asp426His)
c.1078G>C (p.Asp360His)
c.1204G>C (p.Asp402His)
n.572G>C
c.-1G>C (n.-1G>C)
c.1294G>C (p.Asp432His)
c.1243G>C (p.Asp415His)
c.1129G>C (p.Asp377His)
c.1234G>C (p.Asp412His)
c.1084G>C (p.Asp362His)
c.976G>C (p.Asp326His)
 dbSNP COSMIC
2g.224503753C>TCA350827520CUL3c.1276G>A (p.Asp426Asn)
c.1078G>A (p.Asp360Asn)
c.1204G>A (p.Asp402Asn)
n.572G>A
c.-1G>A (n.-1G>A)
c.1294G>A (p.Asp432Asn)
c.1243G>A (p.Asp415Asn)
c.1129G>A (p.Asp377Asn)
c.1234G>A (p.Asp412Asn)
c.1084G>A (p.Asp362Asn)
c.976G>A (p.Asp326Asn)
 dbSNP
2g.224503754T>ACA350827522CUL3c.1275A>T (p.Lys425Asn)
c.1077A>T (p.Lys359Asn)
c.1203A>T (p.Lys401Asn)
n.571A>T
c.-2A>T (n.-2A>T)
c.1293A>T (p.Lys431Asn)
c.1242A>T (p.Lys414Asn)
c.1128A>T (p.Lys376Asn)
c.1233A>T (p.Lys411Asn)
c.1083A>T (p.Lys361Asn)
c.975A>T (p.Lys325Asn)
2g.224503754T>CCA431492701CUL3c.1275A>G (p.Lys425=)
c.1077A>G (p.Lys359=)
c.1203A>G (p.Lys401=)
n.571A>G
c.-2A>G (n.-2A>G)
c.1293A>G (p.Lys431=)
c.1242A>G (p.Lys414=)
c.1128A>G (p.Lys376=)
c.1233A>G (p.Lys411=)
c.1083A>G (p.Lys361=)
c.975A>G (p.Lys325=)
 dbSNP
2g.224503754T>GCA350827523CUL3c.1275A>C (p.Lys425Asn)
c.1077A>C (p.Lys359Asn)
c.1203A>C (p.Lys401Asn)
n.571A>C
c.-2A>C (n.-2A>C)
c.1293A>C (p.Lys431Asn)
c.1242A>C (p.Lys414Asn)
c.1128A>C (p.Lys376Asn)
c.1233A>C (p.Lys411Asn)
c.1083A>C (p.Lys361Asn)
c.975A>C (p.Lys325Asn)
2g.224503755T>ACA350827524CUL3c.1274A>T (p.Lys425Ile)
c.1076A>T (p.Lys359Ile)
c.1202A>T (p.Lys401Ile)
n.570A>T
c.-3A>T (n.-3A>T)
c.1292A>T (p.Lys431Ile)
c.1241A>T (p.Lys414Ile)
c.1127A>T (p.Lys376Ile)
c.1232A>T (p.Lys411Ile)
c.1082A>T (p.Lys361Ile)
c.974A>T (p.Lys325Ile)
2g.224503755T>CCA350827525CUL3c.1274A>G (p.Lys425Arg)
c.1076A>G (p.Lys359Arg)
c.1202A>G (p.Lys401Arg)
n.570A>G
c.-3A>G (n.-3A>G)
c.1292A>G (p.Lys431Arg)
c.1241A>G (p.Lys414Arg)
c.1127A>G (p.Lys376Arg)
c.1232A>G (p.Lys411Arg)
c.1082A>G (p.Lys361Arg)
c.974A>G (p.Lys325Arg)
2g.224503755T>GCA350827526CUL3c.1274A>C (p.Lys425Thr)
c.1076A>C (p.Lys359Thr)
c.1202A>C (p.Lys401Thr)
n.570A>C
c.-3A>C (n.-3A>C)
c.1292A>C (p.Lys431Thr)
c.1241A>C (p.Lys414Thr)
c.1127A>C (p.Lys376Thr)
c.1232A>C (p.Lys411Thr)
c.1082A>C (p.Lys361Thr)
c.974A>C (p.Lys325Thr)
2g.224503756T>ACA350827527CUL3c.1273A>T (p.Lys425Ter)
c.1075A>T (p.Lys359Ter)
c.1201A>T (p.Lys401Ter)
n.569A>T
c.-4A>T (n.-4A>T)
c.1291A>T (p.Lys431Ter)
c.1240A>T (p.Lys414Ter)
c.1126A>T (p.Lys376Ter)
c.1231A>T (p.Lys411Ter)
c.1081A>T (p.Lys361Ter)
c.973A>T (p.Lys325Ter)
2g.224503756T>CCA350827529CUL3c.1273A>G (p.Lys425Glu)
c.1075A>G (p.Lys359Glu)
c.1201A>G (p.Lys401Glu)
n.569A>G
c.-4A>G (n.-4A>G)
c.1291A>G (p.Lys431Glu)
c.1240A>G (p.Lys414Glu)
c.1126A>G (p.Lys376Glu)
c.1231A>G (p.Lys411Glu)
c.1081A>G (p.Lys361Glu)
c.973A>G (p.Lys325Glu)
2g.224503756T>GCA350827528CUL3c.1273A>C (p.Lys425Gln)
c.1075A>C (p.Lys359Gln)
c.1201A>C (p.Lys401Gln)
n.569A>C
c.-4A>C (n.-4A>C)
c.1291A>C (p.Lys431Gln)
c.1240A>C (p.Lys414Gln)
c.1126A>C (p.Lys376Gln)
c.1231A>C (p.Lys411Gln)
c.1081A>C (p.Lys361Gln)
c.973A>C (p.Lys325Gln)
2g.224503757T>ACA350827530CUL3c.1272A>T (p.Glu424Asp)
c.1074A>T (p.Glu358Asp)
c.1200A>T (p.Glu400Asp)
n.568A>T
c.-5A>T (n.-5A>T)
c.1290A>T (p.Glu430Asp)
c.1239A>T (p.Glu413Asp)
c.1125A>T (p.Glu375Asp)
c.1230A>T (p.Glu410Asp)
c.1080A>T (p.Glu360Asp)
c.972A>T (p.Glu324Asp)
2g.224503757T>CCA431492702CUL3c.1272A>G (p.Glu424=)
c.1074A>G (p.Glu358=)
c.1200A>G (p.Glu400=)
n.568A>G
c.-5A>G (n.-5A>G)
c.1290A>G (p.Glu430=)
c.1239A>G (p.Glu413=)
c.1125A>G (p.Glu375=)
c.1230A>G (p.Glu410=)
c.1080A>G (p.Glu360=)
c.972A>G (p.Glu324=)
2g.224503757T>GCA350827531CUL3c.1272A>C (p.Glu424Asp)
c.1074A>C (p.Glu358Asp)
c.1200A>C (p.Glu400Asp)
n.568A>C
c.-5A>C (n.-5A>C)
c.1290A>C (p.Glu430Asp)
c.1239A>C (p.Glu413Asp)
c.1125A>C (p.Glu375Asp)
c.1230A>C (p.Glu410Asp)
c.1080A>C (p.Glu360Asp)
c.972A>C (p.Glu324Asp)
2g.224503758T>ACA350827532CUL3c.1271A>T (p.Glu424Val)
c.1073A>T (p.Glu358Val)
c.1199A>T (p.Glu400Val)
n.567A>T
c.-6A>T (n.-6A>T)
c.1289A>T (p.Glu430Val)
c.1238A>T (p.Glu413Val)
c.1124A>T (p.Glu375Val)
c.1229A>T (p.Glu410Val)
c.1079A>T (p.Glu360Val)
c.971A>T (p.Glu324Val)
 dbSNP
2g.224503758T>CCA350827533CUL3c.1271A>G (p.Glu424Gly)
c.1073A>G (p.Glu358Gly)
c.1199A>G (p.Glu400Gly)
n.567A>G
c.-6A>G (n.-6A>G)
c.1289A>G (p.Glu430Gly)
c.1238A>G (p.Glu413Gly)
c.1124A>G (p.Glu375Gly)
c.1229A>G (p.Glu410Gly)
c.1079A>G (p.Glu360Gly)
c.971A>G (p.Glu324Gly)
 dbSNP
2g.224503758T>GCA350827534CUL3c.1271A>C (p.Glu424Ala)
c.1073A>C (p.Glu358Ala)
c.1199A>C (p.Glu400Ala)
n.567A>C
c.-6A>C (n.-6A>C)
c.1289A>C (p.Glu430Ala)
c.1238A>C (p.Glu413Ala)
c.1124A>C (p.Glu375Ala)
c.1229A>C (p.Glu410Ala)
c.1079A>C (p.Glu360Ala)
c.971A>C (p.Glu324Ala)
2g.224503759C>ACA350827535CUL3c.1270G>T (p.Glu424Ter)
c.1072G>T (p.Glu358Ter)
c.1198G>T (p.Glu400Ter)
n.566G>T
c.-7G>T (n.-7G>T)
c.1288G>T (p.Glu430Ter)
c.1237G>T (p.Glu413Ter)
c.1123G>T (p.Glu375Ter)
c.1228G>T (p.Glu410Ter)
c.1078G>T (p.Glu360Ter)
c.970G>T (p.Glu324Ter)
 dbSNP
2g.224503759C>GCA350827536CUL3c.1270G>C (p.Glu424Gln)
c.1072G>C (p.Glu358Gln)
c.1198G>C (p.Glu400Gln)
n.566G>C
c.-7G>C (n.-7G>C)
c.1288G>C (p.Glu430Gln)
c.1237G>C (p.Glu413Gln)
c.1123G>C (p.Glu375Gln)
c.1228G>C (p.Glu410Gln)
c.1078G>C (p.Glu360Gln)
c.970G>C (p.Glu324Gln)
 dbSNP
2g.224503759C>TCA350827537CUL3c.1270G>A (p.Glu424Lys)
c.1072G>A (p.Glu358Lys)
c.1198G>A (p.Glu400Lys)
n.566G>A
c.-7G>A (n.-7G>A)
c.1288G>A (p.Glu430Lys)
c.1237G>A (p.Glu413Lys)
c.1123G>A (p.Glu375Lys)
c.1228G>A (p.Glu410Lys)
c.1078G>A (p.Glu360Lys)
c.970G>A (p.Glu324Lys)
 dbSNP
2g.224503760T>ACA350827538CUL3c.1269A>T (p.Gln423His)
c.1071A>T (p.Gln357His)
c.1197A>T (p.Gln399His)
n.565A>T
c.-8A>T (n.-8A>T)
c.1287A>T (p.Gln429His)
c.1236A>T (p.Gln412His)
c.1122A>T (p.Gln374His)
c.1227A>T (p.Gln409His)
c.1077A>T (p.Gln359His)
c.969A>T (p.Gln323His)
2g.224503760T>CCA431492703CUL3c.1269A>G (p.Gln423=)
c.1071A>G (p.Gln357=)
c.1197A>G (p.Gln399=)
n.565A>G
c.-8A>G (n.-8A>G)
c.1287A>G (p.Gln429=)
c.1236A>G (p.Gln412=)
c.1122A>G (p.Gln374=)
c.1227A>G (p.Gln409=)
c.1077A>G (p.Gln359=)
c.969A>G (p.Gln323=)
2g.224503760T>GCA350827539CUL3c.1269A>C (p.Gln423His)
c.1071A>C (p.Gln357His)
c.1197A>C (p.Gln399His)
n.565A>C
c.-8A>C (n.-8A>C)
c.1287A>C (p.Gln429His)
c.1236A>C (p.Gln412His)
c.1122A>C (p.Gln374His)
c.1227A>C (p.Gln409His)
c.1077A>C (p.Gln359His)
c.969A>C (p.Gln323His)
2g.224503761T>ACA350827540CUL3c.1268A>T (p.Gln423Leu)
c.1070A>T (p.Gln357Leu)
c.1196A>T (p.Gln399Leu)
n.564A>T
c.-9A>T (n.-9A>T)
c.1286A>T (p.Gln429Leu)
c.1235A>T (p.Gln412Leu)
c.1121A>T (p.Gln374Leu)
c.1226A>T (p.Gln409Leu)
c.1076A>T (p.Gln359Leu)
c.968A>T (p.Gln323Leu)
 dbSNP
2g.224503761T>CCA350827542CUL3c.1268A>G (p.Gln423Arg)
c.1070A>G (p.Gln357Arg)
c.1196A>G (p.Gln399Arg)
n.564A>G
c.-9A>G (n.-9A>G)
c.1286A>G (p.Gln429Arg)
c.1235A>G (p.Gln412Arg)
c.1121A>G (p.Gln374Arg)
c.1226A>G (p.Gln409Arg)
c.1076A>G (p.Gln359Arg)
c.968A>G (p.Gln323Arg)
 dbSNP
2g.224503761T>GCA350827541CUL3c.1268A>C (p.Gln423Pro)
c.1070A>C (p.Gln357Pro)
c.1196A>C (p.Gln399Pro)
n.564A>C
c.-9A>C (n.-9A>C)
c.1286A>C (p.Gln429Pro)
c.1235A>C (p.Gln412Pro)
c.1121A>C (p.Gln374Pro)
c.1226A>C (p.Gln409Pro)
c.1076A>C (p.Gln359Pro)
c.968A>C (p.Gln323Pro)
2g.224503762G>ACA350827543CUL3c.1267C>T (p.Gln423Ter)
c.1069C>T (p.Gln357Ter)
c.1195C>T (p.Gln399Ter)
n.563C>T
c.-10C>T (n.-10C>T)
c.1285C>T (p.Gln429Ter)
c.1234C>T (p.Gln412Ter)
c.1120C>T (p.Gln374Ter)
c.1225C>T (p.Gln409Ter)
c.1075C>T (p.Gln359Ter)
c.967C>T (p.Gln323Ter)
 dbSNP gnomAD v4
2g.224503762G>CCA350827545CUL3c.1267C>G (p.Gln423Glu)
c.1069C>G (p.Gln357Glu)
c.1195C>G (p.Gln399Glu)
n.563C>G
c.-10C>G (n.-10C>G)
c.1285C>G (p.Gln429Glu)
c.1234C>G (p.Gln412Glu)
c.1120C>G (p.Gln374Glu)
c.1225C>G (p.Gln409Glu)
c.1075C>G (p.Gln359Glu)
c.967C>G (p.Gln323Glu)
 dbSNP
2g.224503762G>TCA350827544CUL3c.1267C>A (p.Gln423Lys)
c.1069C>A (p.Gln357Lys)
c.1195C>A (p.Gln399Lys)
n.563C>A
c.-10C>A (n.-10C>A)
c.1285C>A (p.Gln429Lys)
c.1234C>A (p.Gln412Lys)
c.1120C>A (p.Gln374Lys)
c.1225C>A (p.Gln409Lys)
c.1075C>A (p.Gln359Lys)
c.967C>A (p.Gln323Lys)
 gnomAD v4

Number of alleles fetched