UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.224503662G>A | CA350826909 | CUL3 | c.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 |
| 2 | g.224503662G>C | CA350826910 | CUL3 | c.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 |
| 2 | g.224503662G= | CA1331555923 | CUL3 | c.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=) | |
| 2 | g.224503662G>T | CA350826913 | CUL3 | c.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 |
| 2 | g.224503663del | CA645514934 | CUL3 | c.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 |
| 2 | g.224503663A>C | CA350826917 | CUL3 | c.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) | |
| 2 | g.224503663A>G | CA350826919 | CUL3 | c.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 |
| 2 | g.224503663A>T | CA350826915 | CUL3 | c.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 |
| 2 | g.224503664T>A | CA431492564 | CUL3 | c.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=) | |
| 2 | g.224503664T>C | CA2140015 | CUL3 | c.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 |
| 2 | g.224503664T>G | CA431492565 | CUL3 | c.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=) | |
| 2 | g.224503664T= | CA1331555924 | CUL3 | c.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=) | |
| 2 | g.224503665A>C | CA350826922 | CUL3 | c.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) | |
| 2 | g.224503665A>G | CA350826924 | CUL3 | c.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) | |
| 2 | g.224503665A>T | CA350826926 | CUL3 | c.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 |
| 2 | g.224503667_224503669del | CA2663372487 | CUL3 | c.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 |
| 2 | g.224503666T>A | CA350826933 | CUL3 | c.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 |
| 2 | g.224503666T>C | CA350826931 | CUL3 | c.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) | |
| 2 | g.224503666T>G | CA350826929 | CUL3 | c.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) | |
| 2 | g.224503667C>A | CA350826935 | CUL3 | c.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 |
| 2 | g.224503667C>G | CA350826936 | CUL3 | c.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 |
| 2 | g.224503667C>T | CA350826939 | CUL3 | c.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 |
| 2 | g.224503668A>C | CA350826941 | CUL3 | c.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) | |
| 2 | g.224503668A>G | CA350826942 | CUL3 | c.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) | |
| 2 | g.224503668A>T | CA350826943 | CUL3 | c.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 |
| 2 | g.224503669del | CA2697550485 | CUL3 | c.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 |
| 2 | g.224503669T>A | CA350826945 | CUL3 | c.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) | |
| 2 | g.224503669T>C | CA66534321 | CUL3 | c.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 |
| 2 | g.224503669T>G | CA350826946 | CUL3 | c.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) | |
| 2 | g.224503669T= | CA1331555925 | CUL3 | c.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=) | |
| 2 | g.224503670G>A | CA431492566 | CUL3 | c.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 |
| 2 | g.224503670G>C | CA350826947 | CUL3 | c.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) | |
| 2 | g.224503670G>T | CA350826948 | CUL3 | c.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) | |
| 2 | g.224503670_224503671delinsGT | CA1331555926 | CUL3 | c.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=) | |
| 2 | g.224503671T>A | CA350826950 | CUL3 | c.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 |
| 2 | g.224503671T>C | CA350826951 | CUL3 | c.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) | |
| 2 | g.224503671T>G | CA350826953 | CUL3 | c.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) | |
| 2 | g.224503677dup | CA645514935 | CUL3 | c.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 |
| 2 | g.224503677del | CA539863150 | CUL3 | c.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 |
| 2 | g.224503672T>A | CA350826955 | CUL3 | c.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) | |
| 2 | g.224503672T>C | CA350826956 | CUL3 | c.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 |
| 2 | g.224503672T>G | CA350826958 | CUL3 | c.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) | |
| 2 | g.224503673T>A | CA350826960 | CUL3 | c.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) | |
| 2 | g.224503673T>C | CA350826970 | CUL3 | c.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 |
| 2 | g.224503673T>G | CA350826973 | CUL3 | c.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) | |
| 2 | g.224503673T= | CA1331555927 | CUL3 | c.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=) | |
| 2 | g.224503674T>A | CA350826978 | CUL3 | c.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) | |
| 2 | g.224503674T>C | CA350826980 | CUL3 | c.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) | |
| 2 | g.224503674T>G | CA350826976 | CUL3 | c.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) | |
| 2 | g.224503675T>A | CA350826984 | CUL3 | c.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 |