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.224503767A= | CA1331555950 | CUL3 | c.1262T= (p.Phe421=) c.1064T= (p.Phe355=) c.1190T= (p.Phe397=) n.558T= c.-15T= (n.-15T=) c.1280T= (p.Phe427=) c.1229T= (p.Phe410=) c.1115T= (p.Phe372=) c.1220T= (p.Phe407=) c.1070T= (p.Phe357=) c.962T= (p.Phe321=) | |
| 2 | g.224503767A>C | CA350827558 | CUL3 | c.1262T>G (p.Phe421Cys) c.1064T>G (p.Phe355Cys) c.1190T>G (p.Phe397Cys) n.558T>G c.-15T>G (n.-15T>G) c.1280T>G (p.Phe427Cys) c.1229T>G (p.Phe410Cys) c.1115T>G (p.Phe372Cys) c.1220T>G (p.Phe407Cys) c.1070T>G (p.Phe357Cys) c.962T>G (p.Phe321Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.224503767A>G | CA350827556 | CUL3 | c.1262T>C (p.Phe421Ser) c.1064T>C (p.Phe355Ser) c.1190T>C (p.Phe397Ser) n.558T>C c.-15T>C (n.-15T>C) c.1280T>C (p.Phe427Ser) c.1229T>C (p.Phe410Ser) c.1115T>C (p.Phe372Ser) c.1220T>C (p.Phe407Ser) c.1070T>C (p.Phe357Ser) c.962T>C (p.Phe321Ser) | dbSNP |
| 2 | g.224503767A>T | CA350827557 | CUL3 | c.1262T>A (p.Phe421Tyr) c.1064T>A (p.Phe355Tyr) c.1190T>A (p.Phe397Tyr) n.558T>A c.-15T>A (n.-15T>A) c.1280T>A (p.Phe427Tyr) c.1229T>A (p.Phe410Tyr) c.1115T>A (p.Phe372Tyr) c.1220T>A (p.Phe407Tyr) c.1070T>A (p.Phe357Tyr) c.962T>A (p.Phe321Tyr) | dbSNP |
| 2 | g.224503768A>C | CA350827561 | CUL3 | c.1261T>G (p.Phe421Val) c.1063T>G (p.Phe355Val) c.1189T>G (p.Phe397Val) n.557T>G c.-16T>G (n.-16T>G) c.1279T>G (p.Phe427Val) c.1228T>G (p.Phe410Val) c.1114T>G (p.Phe372Val) c.1219T>G (p.Phe407Val) c.1069T>G (p.Phe357Val) c.961T>G (p.Phe321Val) | dbSNP |
| 2 | g.224503768A>G | CA350827562 | CUL3 | c.1261T>C (p.Phe421Leu) c.1063T>C (p.Phe355Leu) c.1189T>C (p.Phe397Leu) n.557T>C c.-16T>C (n.-16T>C) c.1279T>C (p.Phe427Leu) c.1228T>C (p.Phe410Leu) c.1114T>C (p.Phe372Leu) c.1219T>C (p.Phe407Leu) c.1069T>C (p.Phe357Leu) c.961T>C (p.Phe321Leu) | dbSNP |
| 2 | g.224503768A>T | CA350827564 | CUL3 | c.1261T>A (p.Phe421Ile) c.1063T>A (p.Phe355Ile) c.1189T>A (p.Phe397Ile) n.557T>A c.-16T>A (n.-16T>A) c.1279T>A (p.Phe427Ile) c.1228T>A (p.Phe410Ile) c.1114T>A (p.Phe372Ile) c.1219T>A (p.Phe407Ile) c.1069T>A (p.Phe357Ile) c.961T>A (p.Phe321Ile) | dbSNP |
| 2 | g.224503769C>A | CA350827565 | CUL3 | c.1260G>T (p.Arg420Ser) c.1062G>T (p.Arg354Ser) c.1188G>T (p.Arg396Ser) n.556G>T c.-17G>T (n.-17G>T) c.1278G>T (p.Arg426Ser) c.1227G>T (p.Arg409Ser) c.1113G>T (p.Arg371Ser) c.1218G>T (p.Arg406Ser) c.1068G>T (p.Arg356Ser) c.960G>T (p.Arg320Ser) | dbSNP |
| 2 | g.224503769C>G | CA350827567 | CUL3 | c.1260G>C (p.Arg420Ser) c.1062G>C (p.Arg354Ser) c.1188G>C (p.Arg396Ser) n.556G>C c.-17G>C (n.-17G>C) c.1278G>C (p.Arg426Ser) c.1227G>C (p.Arg409Ser) c.1113G>C (p.Arg371Ser) c.1218G>C (p.Arg406Ser) c.1068G>C (p.Arg356Ser) c.960G>C (p.Arg320Ser) | dbSNP |
| 2 | g.224503769C>T | CA431492708 | CUL3 | c.1260G>A (p.Arg420=) c.1062G>A (p.Arg354=) c.1188G>A (p.Arg396=) n.556G>A c.-17G>A (n.-17G>A) c.1278G>A (p.Arg426=) c.1227G>A (p.Arg409=) c.1113G>A (p.Arg371=) c.1218G>A (p.Arg406=) c.1068G>A (p.Arg356=) c.960G>A (p.Arg320=) | dbSNP gnomAD v4 |
| 2 | g.224503770C>A | CA350827570 | CUL3 | c.1259G>T (p.Arg420Met) c.1061G>T (p.Arg354Met) c.1187G>T (p.Arg396Met) n.555G>T c.-18G>T (n.-18G>T) c.1277G>T (p.Arg426Met) c.1226G>T (p.Arg409Met) c.1112G>T (p.Arg371Met) c.1217G>T (p.Arg406Met) c.1067G>T (p.Arg356Met) c.959G>T (p.Arg320Met) | dbSNP |
| 2 | g.224503770C>G | CA350827571 | CUL3 | c.1259G>C (p.Arg420Thr) c.1061G>C (p.Arg354Thr) c.1187G>C (p.Arg396Thr) n.555G>C c.-18G>C (n.-18G>C) c.1277G>C (p.Arg426Thr) c.1226G>C (p.Arg409Thr) c.1112G>C (p.Arg371Thr) c.1217G>C (p.Arg406Thr) c.1067G>C (p.Arg356Thr) c.959G>C (p.Arg320Thr) | dbSNP |
| 2 | g.224503770C>T | CA350827573 | CUL3 | c.1259G>A (p.Arg420Lys) c.1061G>A (p.Arg354Lys) c.1187G>A (p.Arg396Lys) n.555G>A c.-18G>A (n.-18G>A) c.1277G>A (p.Arg426Lys) c.1226G>A (p.Arg409Lys) c.1112G>A (p.Arg371Lys) c.1217G>A (p.Arg406Lys) c.1067G>A (p.Arg356Lys) c.959G>A (p.Arg320Lys) | dbSNP |
| 2 | g.224503771T>A | CA350827575 | CUL3 | c.1258A>T (p.Arg420Trp) c.1060A>T (p.Arg354Trp) c.1186A>T (p.Arg396Trp) n.554A>T c.-19A>T (n.-19A>T) c.1276A>T (p.Arg426Trp) c.1225A>T (p.Arg409Trp) c.1111A>T (p.Arg371Trp) c.1216A>T (p.Arg406Trp) c.1066A>T (p.Arg356Trp) c.958A>T (p.Arg320Trp) | |
| 2 | g.224503771T>C | CA350827577 | CUL3 | c.1258A>G (p.Arg420Gly) c.1060A>G (p.Arg354Gly) c.1186A>G (p.Arg396Gly) n.554A>G c.-19A>G (n.-19A>G) c.1276A>G (p.Arg426Gly) c.1225A>G (p.Arg409Gly) c.1111A>G (p.Arg371Gly) c.1216A>G (p.Arg406Gly) c.1066A>G (p.Arg356Gly) c.958A>G (p.Arg320Gly) | gnomAD v4 |
| 2 | g.224503771T>G | CA431492710 | CUL3 | c.1258A>C (p.Arg420=) c.1060A>C (p.Arg354=) c.1186A>C (p.Arg396=) n.554A>C c.-19A>C (n.-19A>C) c.1276A>C (p.Arg426=) c.1225A>C (p.Arg409=) c.1111A>C (p.Arg371=) c.1216A>C (p.Arg406=) c.1066A>C (p.Arg356=) c.958A>C (p.Arg320=) | |
| 2 | g.224503772A= | CA1331555951 | CUL3 | c.1257T= (p.Phe419=) c.1059T= (p.Phe353=) c.1185T= (p.Phe395=) n.553T= c.-20T= (n.-20T=) c.1275T= (p.Phe425=) c.1224T= (p.Phe408=) c.1110T= (p.Phe370=) c.1215T= (p.Phe405=) c.1065T= (p.Phe355=) c.957T= (p.Phe319=) | |
| 2 | g.224503772A>C | CA350827583 | CUL3 | c.1257T>G (p.Phe419Leu) c.1059T>G (p.Phe353Leu) c.1185T>G (p.Phe395Leu) n.553T>G c.-20T>G (n.-20T>G) c.1275T>G (p.Phe425Leu) c.1224T>G (p.Phe408Leu) c.1110T>G (p.Phe370Leu) c.1215T>G (p.Phe405Leu) c.1065T>G (p.Phe355Leu) c.957T>G (p.Phe319Leu) | |
| 2 | g.224503772A>G | CA66534323 | CUL3 | c.1257T>C (p.Phe419=) c.1059T>C (p.Phe353=) c.1185T>C (p.Phe395=) n.553T>C c.-20T>C (n.-20T>C) c.1275T>C (p.Phe425=) c.1224T>C (p.Phe408=) c.1110T>C (p.Phe370=) c.1215T>C (p.Phe405=) c.1065T>C (p.Phe355=) c.957T>C (p.Phe319=) | dbSNP gnomAD v4 |
| 2 | g.224503772A>T | CA350827580 | CUL3 | c.1257T>A (p.Phe419Leu) c.1059T>A (p.Phe353Leu) c.1185T>A (p.Phe395Leu) n.553T>A c.-20T>A (n.-20T>A) c.1275T>A (p.Phe425Leu) c.1224T>A (p.Phe408Leu) c.1110T>A (p.Phe370Leu) c.1215T>A (p.Phe405Leu) c.1065T>A (p.Phe355Leu) c.957T>A (p.Phe319Leu) | |
| 2 | g.224503776del | CA2663372489 | CUL3 | c.1257del (p.Phe419LeufsTer?) c.1059del (p.Phe353LeufsTer?) c.1185del (p.Phe395LeufsTer?) n.553del c.-20del (n.-20del) c.1275del (p.Phe425LeufsTer?) c.1224del (p.Phe408LeufsTer?) c.1110del (p.Phe370LeufsTer?) c.1215del (p.Phe405LeufsTer?) c.1065del (p.Phe355LeufsTer?) c.957del (p.Phe319LeufsTer?) | gnomAD v4 |
| 2 | g.224503775_224503776del | CA2701739853 | CUL3 | c.1256_1257del (p.Phe419Ter) c.1058_1059del (p.Phe353Ter) c.1184_1185del (p.Phe395Ter) n.552_553del c.-21_-20del (n.-21_-20del) c.1274_1275del (p.Phe425Ter) c.1223_1224del (p.Phe408Ter) c.1109_1110del (p.Phe370Ter) c.1214_1215del (p.Phe405Ter) c.1064_1065del (p.Phe355Ter) c.956_957del (p.Phe319Ter) | dbSNP |
| 2 | g.224503773A>C | CA350827586 | CUL3 | c.1256T>G (p.Phe419Cys) c.1058T>G (p.Phe353Cys) c.1184T>G (p.Phe395Cys) n.552T>G c.-21T>G (n.-21T>G) c.1274T>G (p.Phe425Cys) c.1223T>G (p.Phe408Cys) c.1109T>G (p.Phe370Cys) c.1214T>G (p.Phe405Cys) c.1064T>G (p.Phe355Cys) c.956T>G (p.Phe319Cys) | |
| 2 | g.224503773A>G | CA350827587 | CUL3 | c.1256T>C (p.Phe419Ser) c.1058T>C (p.Phe353Ser) c.1184T>C (p.Phe395Ser) n.552T>C c.-21T>C (n.-21T>C) c.1274T>C (p.Phe425Ser) c.1223T>C (p.Phe408Ser) c.1109T>C (p.Phe370Ser) c.1214T>C (p.Phe405Ser) c.1064T>C (p.Phe355Ser) c.956T>C (p.Phe319Ser) | |
| 2 | g.224503773A>T | CA350827589 | CUL3 | c.1256T>A (p.Phe419Tyr) c.1058T>A (p.Phe353Tyr) c.1184T>A (p.Phe395Tyr) n.552T>A c.-21T>A (n.-21T>A) c.1274T>A (p.Phe425Tyr) c.1223T>A (p.Phe408Tyr) c.1109T>A (p.Phe370Tyr) c.1214T>A (p.Phe405Tyr) c.1064T>A (p.Phe355Tyr) c.956T>A (p.Phe319Tyr) | |
| 2 | g.224503774A>C | CA350827591 | CUL3 | c.1255T>G (p.Phe419Val) c.1057T>G (p.Phe353Val) c.1183T>G (p.Phe395Val) n.551T>G c.-22T>G (n.-22T>G) c.1273T>G (p.Phe425Val) c.1222T>G (p.Phe408Val) c.1108T>G (p.Phe370Val) c.1213T>G (p.Phe405Val) c.1063T>G (p.Phe355Val) c.955T>G (p.Phe319Val) | |
| 2 | g.224503774A>G | CA350827593 | CUL3 | c.1255T>C (p.Phe419Leu) c.1057T>C (p.Phe353Leu) c.1183T>C (p.Phe395Leu) n.551T>C c.-22T>C (n.-22T>C) c.1273T>C (p.Phe425Leu) c.1222T>C (p.Phe408Leu) c.1108T>C (p.Phe370Leu) c.1213T>C (p.Phe405Leu) c.1063T>C (p.Phe355Leu) c.955T>C (p.Phe319Leu) | gnomAD v4 |
| 2 | g.224503774A>T | CA350827595 | CUL3 | c.1255T>A (p.Phe419Ile) c.1057T>A (p.Phe353Ile) c.1183T>A (p.Phe395Ile) n.551T>A c.-22T>A (n.-22T>A) c.1273T>A (p.Phe425Ile) c.1222T>A (p.Phe408Ile) c.1108T>A (p.Phe370Ile) c.1213T>A (p.Phe405Ile) c.1063T>A (p.Phe355Ile) c.955T>A (p.Phe319Ile) | dbSNP |
| 2 | g.224503775A= | CA1331555952 | CUL3 | c.1254T= (p.Leu418=) c.1056T= (p.Leu352=) c.1182T= (p.Leu394=) n.550T= c.-23T= (n.-23T=) c.1272T= (p.Leu424=) c.1221T= (p.Leu407=) c.1107T= (p.Leu369=) c.1212T= (p.Leu404=) c.1062T= (p.Leu354=) c.954T= (p.Leu318=) | |
| 2 | g.224503775A>C | CA431492711 | CUL3 | c.1254T>G (p.Leu418=) c.1056T>G (p.Leu352=) c.1182T>G (p.Leu394=) n.550T>G c.-23T>G (n.-23T>G) c.1272T>G (p.Leu424=) c.1221T>G (p.Leu407=) c.1107T>G (p.Leu369=) c.1212T>G (p.Leu404=) c.1062T>G (p.Leu354=) c.954T>G (p.Leu318=) | |
| 2 | g.224503775A>G | CA431492712 | CUL3 | c.1254T>C (p.Leu418=) c.1056T>C (p.Leu352=) c.1182T>C (p.Leu394=) n.550T>C c.-23T>C (n.-23T>C) c.1272T>C (p.Leu424=) c.1221T>C (p.Leu407=) c.1107T>C (p.Leu369=) c.1212T>C (p.Leu404=) c.1062T>C (p.Leu354=) c.954T>C (p.Leu318=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.224503775A>T | CA431492713 | CUL3 | c.1254T>A (p.Leu418=) c.1056T>A (p.Leu352=) c.1182T>A (p.Leu394=) n.550T>A c.-23T>A (n.-23T>A) c.1272T>A (p.Leu424=) c.1221T>A (p.Leu407=) c.1107T>A (p.Leu369=) c.1212T>A (p.Leu404=) c.1062T>A (p.Leu354=) c.954T>A (p.Leu318=) | |
| 2 | g.224503776A>C | CA350827597 | CUL3 | c.1253T>G (p.Leu418Arg) c.1055T>G (p.Leu352Arg) c.1181T>G (p.Leu394Arg) n.549T>G c.-24T>G (n.-24T>G) c.1271T>G (p.Leu424Arg) c.1220T>G (p.Leu407Arg) c.1106T>G (p.Leu369Arg) c.1211T>G (p.Leu404Arg) c.1061T>G (p.Leu354Arg) c.953T>G (p.Leu318Arg) | |
| 2 | g.224503776A>G | CA350827599 | CUL3 | c.1253T>C (p.Leu418Pro) c.1055T>C (p.Leu352Pro) c.1181T>C (p.Leu394Pro) n.549T>C c.-24T>C (n.-24T>C) c.1271T>C (p.Leu424Pro) c.1220T>C (p.Leu407Pro) c.1106T>C (p.Leu369Pro) c.1211T>C (p.Leu404Pro) c.1061T>C (p.Leu354Pro) c.953T>C (p.Leu318Pro) | dbSNP gnomAD v4 |
| 2 | g.224503776A>T | CA350827601 | CUL3 | c.1253T>A (p.Leu418His) c.1055T>A (p.Leu352His) c.1181T>A (p.Leu394His) n.549T>A c.-24T>A (n.-24T>A) c.1271T>A (p.Leu424His) c.1220T>A (p.Leu407His) c.1106T>A (p.Leu369His) c.1211T>A (p.Leu404His) c.1061T>A (p.Leu354His) c.953T>A (p.Leu318His) | dbSNP |
| 2 | g.224503777G>A | CA350827603 | CUL3 | c.1252C>T (p.Leu418Phe) c.1054C>T (p.Leu352Phe) c.1180C>T (p.Leu394Phe) n.548C>T c.-25C>T (n.-25C>T) c.1270C>T (p.Leu424Phe) c.1219C>T (p.Leu407Phe) c.1105C>T (p.Leu369Phe) c.1210C>T (p.Leu404Phe) c.1060C>T (p.Leu354Phe) c.952C>T (p.Leu318Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.224503777G>C | CA350827605 | CUL3 | c.1252C>G (p.Leu418Val) c.1054C>G (p.Leu352Val) c.1180C>G (p.Leu394Val) n.548C>G c.-25C>G (n.-25C>G) c.1270C>G (p.Leu424Val) c.1219C>G (p.Leu407Val) c.1105C>G (p.Leu369Val) c.1210C>G (p.Leu404Val) c.1060C>G (p.Leu354Val) c.952C>G (p.Leu318Val) | dbSNP |
| 2 | g.224503777G= | CA1331555953 | CUL3 | c.1252C= (p.Leu418=) c.1054C= (p.Leu352=) c.1180C= (p.Leu394=) n.548C= c.-25C= (n.-25C=) c.1270C= (p.Leu424=) c.1219C= (p.Leu407=) c.1105C= (p.Leu369=) c.1210C= (p.Leu404=) c.1060C= (p.Leu354=) c.952C= (p.Leu318=) | |
| 2 | g.224503777G>T | CA350827607 | CUL3 | c.1252C>A (p.Leu418Ile) c.1054C>A (p.Leu352Ile) c.1180C>A (p.Leu394Ile) n.548C>A c.-25C>A (n.-25C>A) c.1270C>A (p.Leu424Ile) c.1219C>A (p.Leu407Ile) c.1105C>A (p.Leu369Ile) c.1210C>A (p.Leu404Ile) c.1060C>A (p.Leu354Ile) c.952C>A (p.Leu318Ile) | dbSNP |
| 2 | g.224503778G>A | CA431492715 | CUL3 | c.1251C>T (p.Val417=) c.1053C>T (p.Val351=) c.1179C>T (p.Val393=) n.547C>T c.-26C>T (n.-26C>T) c.1269C>T (p.Val423=) c.1218C>T (p.Val406=) c.1104C>T (p.Val368=) c.1209C>T (p.Val403=) c.1059C>T (p.Val353=) c.951C>T (p.Val317=) | dbSNP |
| 2 | g.224503778G>C | CA431492716 | CUL3 | c.1251C>G (p.Val417=) c.1053C>G (p.Val351=) c.1179C>G (p.Val393=) n.547C>G c.-26C>G (n.-26C>G) c.1269C>G (p.Val423=) c.1218C>G (p.Val406=) c.1104C>G (p.Val368=) c.1209C>G (p.Val403=) c.1059C>G (p.Val353=) c.951C>G (p.Val317=) | dbSNP |
| 2 | g.224503778G>T | CA431492717 | CUL3 | c.1251C>A (p.Val417=) c.1053C>A (p.Val351=) c.1179C>A (p.Val393=) n.547C>A c.-26C>A (n.-26C>A) c.1269C>A (p.Val423=) c.1218C>A (p.Val406=) c.1104C>A (p.Val368=) c.1209C>A (p.Val403=) c.1059C>A (p.Val353=) c.951C>A (p.Val317=) | dbSNP gnomAD v4 |
| 2 | g.224503779A>C | CA350827612 | CUL3 | c.1250T>G (p.Val417Gly) c.1052T>G (p.Val351Gly) c.1178T>G (p.Val393Gly) n.546T>G c.-27T>G (n.-27T>G) c.1268T>G (p.Val423Gly) c.1217T>G (p.Val406Gly) c.1103T>G (p.Val368Gly) c.1208T>G (p.Val403Gly) c.1058T>G (p.Val353Gly) c.950T>G (p.Val317Gly) | |
| 2 | g.224503779A>G | CA350827608 | CUL3 | c.1250T>C (p.Val417Ala) c.1052T>C (p.Val351Ala) c.1178T>C (p.Val393Ala) n.546T>C c.-27T>C (n.-27T>C) c.1268T>C (p.Val423Ala) c.1217T>C (p.Val406Ala) c.1103T>C (p.Val368Ala) c.1208T>C (p.Val403Ala) c.1058T>C (p.Val353Ala) c.950T>C (p.Val317Ala) | |
| 2 | g.224503779A>T | CA350827610 | CUL3 | c.1250T>A (p.Val417Asp) c.1052T>A (p.Val351Asp) c.1178T>A (p.Val393Asp) n.546T>A c.-27T>A (n.-27T>A) c.1268T>A (p.Val423Asp) c.1217T>A (p.Val406Asp) c.1103T>A (p.Val368Asp) c.1208T>A (p.Val403Asp) c.1058T>A (p.Val353Asp) c.950T>A (p.Val317Asp) | |
| 2 | g.224503780C>A | CA350827614 | CUL3 | c.1249G>T (p.Val417Phe) c.1051G>T (p.Val351Phe) c.1177G>T (p.Val393Phe) n.545G>T c.-28G>T (n.-28G>T) c.1267G>T (p.Val423Phe) c.1216G>T (p.Val406Phe) c.1102G>T (p.Val368Phe) c.1207G>T (p.Val403Phe) c.1057G>T (p.Val353Phe) c.949G>T (p.Val317Phe) | dbSNP gnomAD v4 |
| 2 | g.224503780C= | CA1331555954 | CUL3 | c.1249G= (p.Val417=) c.1051G= (p.Val351=) c.1177G= (p.Val393=) n.545G= c.-28G= (n.-28G=) c.1267G= (p.Val423=) c.1216G= (p.Val406=) c.1102G= (p.Val368=) c.1207G= (p.Val403=) c.1057G= (p.Val353=) c.949G= (p.Val317=) | |
| 2 | g.224503780C>G | CA350827615 | CUL3 | c.1249G>C (p.Val417Leu) c.1051G>C (p.Val351Leu) c.1177G>C (p.Val393Leu) n.545G>C c.-28G>C (n.-28G>C) c.1267G>C (p.Val423Leu) c.1216G>C (p.Val406Leu) c.1102G>C (p.Val368Leu) c.1207G>C (p.Val403Leu) c.1057G>C (p.Val353Leu) c.949G>C (p.Val317Leu) | dbSNP |
| 2 | g.224503780C>T | CA350827617 | CUL3 | c.1249G>A (p.Val417Ile) c.1051G>A (p.Val351Ile) c.1177G>A (p.Val393Ile) n.545G>A c.-28G>A (n.-28G>A) c.1267G>A (p.Val423Ile) c.1216G>A (p.Val406Ile) c.1102G>A (p.Val368Ile) c.1207G>A (p.Val403Ile) c.1057G>A (p.Val353Ile) c.949G>A (p.Val317Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.224503781C>A | CA350827618 | CUL3 | c.1248G>T (p.Met416Ile) c.1050G>T (p.Met350Ile) c.1176G>T (p.Met392Ile) n.544G>T c.-29G>T (n.-29G>T) c.1266G>T (p.Met422Ile) c.1215G>T (p.Met405Ile) c.1101G>T (p.Met367Ile) c.1206G>T (p.Met402Ile) c.1056G>T (p.Met352Ile) c.948G>T (p.Met316Ile) | dbSNP |