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 |
|---|---|---|---|---|---|
| 12 | g.47844080_47844853del | CA2697559199 | VDR | c.1181_*469del (n.[c.1181_*469del;Asn394ThrfsTer?]) c.1181_*670del (n.[c.1181_*670del;Asn394ThrfsTer?]) c.1331_*670del (n.[c.1331_*670del;Asn444ThrfsTer?]) | ClinVar |
| 12 | g.47844806A>C | CA479696460 | VDR | c.1224T>G (p.Pro408=) c.*1226T>G (n.*1226T>G) c.1374T>G (p.Pro458=) c.1293T>G (p.Pro431=) | |
| 12 | g.47844806A>G | CA479696461 | VDR | c.1224T>C (p.Pro408=) c.*1226T>C (n.*1226T>C) c.1374T>C (p.Pro458=) c.1293T>C (p.Pro431=) | gnomAD v4 |
| 12 | g.47844806A>T | CA479696462 | VDR | c.1224T>A (p.Pro408=) c.*1226T>A (n.*1226T>A) c.1374T>A (p.Pro458=) c.1293T>A (p.Pro431=) | |
| 12 | g.47844807G>A | CA384513846 | VDR | c.1223C>T (p.Pro408Leu) c.*1225C>T (n.*1225C>T) c.1373C>T (p.Pro458Leu) c.1292C>T (p.Pro431Leu) | |
| 12 | g.47844807G>C | CA384513844 | VDR | c.1223C>G (p.Pro408Arg) c.*1225C>G (n.*1225C>G) c.1373C>G (p.Pro458Arg) c.1292C>G (p.Pro431Arg) | |
| 12 | g.47844807G>T | CA384513848 | VDR | c.1223C>A (p.Pro408His) c.*1225C>A (n.*1225C>A) c.1373C>A (p.Pro458His) c.1292C>A (p.Pro431His) | |
| 12 | g.47844808G>A | CA384513850 | VDR | c.1222C>T (p.Pro408Ser) c.*1224C>T (n.*1224C>T) c.1372C>T (p.Pro458Ser) c.1291C>T (p.Pro431Ser) | gnomAD v4 |
| 12 | g.47844808G>C | CA384513851 | VDR | c.1222C>G (p.Pro408Ala) c.*1224C>G (n.*1224C>G) c.1372C>G (p.Pro458Ala) c.1291C>G (p.Pro431Ala) | |
| 12 | g.47844808G>T | CA384513853 | VDR | c.1222C>A (p.Pro408Thr) c.*1224C>A (n.*1224C>A) c.1372C>A (p.Pro458Thr) c.1291C>A (p.Pro431Thr) | |
| 12 | g.47844809C>A | CA384513855 | VDR | c.1221G>T (p.Gln407His) c.*1223G>T (n.*1223G>T) c.1371G>T (p.Gln457His) c.1290G>T (p.Gln430His) | |
| 12 | g.47844809C>G | CA384513856 | VDR | c.1221G>C (p.Gln407His) c.*1223G>C (n.*1223G>C) c.1371G>C (p.Gln457His) c.1290G>C (p.Gln430His) | |
| 12 | g.47844809C>T | CA479696463 | VDR | c.1221G>A (p.Gln407=) c.*1223G>A (n.*1223G>A) c.1371G>A (p.Gln457=) c.1290G>A (p.Gln430=) | gnomAD v4 |
| 12 | g.47844810T>A | CA384513859 | VDR | c.1220A>T (p.Gln407Leu) c.*1222A>T (n.*1222A>T) c.1370A>T (p.Gln457Leu) c.1289A>T (p.Gln430Leu) | |
| 12 | g.47844810T>C | CA384513860 | VDR | c.1220A>G (p.Gln407Arg) c.*1222A>G (n.*1222A>G) c.1370A>G (p.Gln457Arg) c.1289A>G (p.Gln430Arg) | |
| 12 | g.47844810T>G | CA384513863 | VDR | c.1220A>C (p.Gln407Pro) c.*1222A>C (n.*1222A>C) c.1370A>C (p.Gln457Pro) c.1289A>C (p.Gln430Pro) | |
| 12 | g.47844811G>A | CA384513866 | VDR | c.1219C>T (p.Gln407Ter) c.*1221C>T (n.*1221C>T) c.1369C>T (p.Gln457Ter) c.1288C>T (p.Gln430Ter) | |
| 12 | g.47844811G>C | CA384513867 | VDR | c.1219C>G (p.Gln407Glu) c.*1221C>G (n.*1221C>G) c.1369C>G (p.Gln457Glu) c.1288C>G (p.Gln430Glu) | |
| 12 | g.47844811G>T | CA384513868 | VDR | c.1219C>A (p.Gln407Lys) c.*1221C>A (n.*1221C>A) c.1369C>A (p.Gln457Lys) c.1288C>A (p.Gln430Lys) | |
| 12 | g.47844812G>A | CA479696464 | VDR | c.1218C>T (p.Phe406=) c.*1220C>T (n.*1220C>T) c.1368C>T (p.Phe456=) c.1287C>T (p.Phe429=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844812G>C | CA384513869 | VDR | c.1218C>G (p.Phe406Leu) c.*1220C>G (n.*1220C>G) c.1368C>G (p.Phe456Leu) c.1287C>G (p.Phe429Leu) | |
| 12 | g.47844812G= | CA2034408944 | VDR | c.1218C= (p.Phe406=) c.*1220C= (n.*1220C=) c.1368C= (p.Phe456=) c.1287C= (p.Phe429=) | |
| 12 | g.47844812G>T | CA384513870 | VDR | c.1218C>A (p.Phe406Leu) c.*1220C>A (n.*1220C>A) c.1368C>A (p.Phe456Leu) c.1287C>A (p.Phe429Leu) | |
| 12 | g.47844813A>C | CA384513877 | VDR | c.1217T>G (p.Phe406Cys) c.*1219T>G (n.*1219T>G) c.1367T>G (p.Phe456Cys) c.1286T>G (p.Phe429Cys) | |
| 12 | g.47844813A>G | CA384513876 | VDR | c.1217T>C (p.Phe406Ser) c.*1219T>C (n.*1219T>C) c.1367T>C (p.Phe456Ser) c.1286T>C (p.Phe429Ser) | |
| 12 | g.47844813A>T | CA384513874 | VDR | c.1217T>A (p.Phe406Tyr) c.*1219T>A (n.*1219T>A) c.1367T>A (p.Phe456Tyr) c.1286T>A (p.Phe429Tyr) | |
| 12 | g.47844814dup | CA6533724 | VDR | c.1217dup (p.Gln407ProfsTer3) c.*1219dup (n.*1219dup) c.1367dup (p.Gln457ProfsTer3) c.1286dup (p.Gln430ProfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844814A= | CA2034408945 | VDR | c.1216T= (p.Phe406=) c.*1218T= (n.*1218T=) c.1366T= (p.Phe456=) c.1285T= (p.Phe429=) | |
| 12 | g.47844814A>C | CA384513878 | VDR | c.1216T>G (p.Phe406Val) c.*1218T>G (n.*1218T>G) c.1366T>G (p.Phe456Val) c.1285T>G (p.Phe429Val) | gnomAD v4 |
| 12 | g.47844814A>G | CA384513879 | VDR | c.1216T>C (p.Phe406Leu) c.*1218T>C (n.*1218T>C) c.1366T>C (p.Phe456Leu) c.1285T>C (p.Phe429Leu) | |
| 12 | g.47844814A>T | CA384513880 | VDR | c.1216T>A (p.Phe406Ile) c.*1218T>A (n.*1218T>A) c.1366T>A (p.Phe456Ile) c.1285T>A (p.Phe429Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844815G>A | CA479696465 | VDR | c.1215C>T (p.Ser405=) c.*1217C>T (n.*1217C>T) c.1365C>T (p.Ser455=) c.1284C>T (p.Ser428=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844815G>C | CA479696466 | VDR | c.1215C>G (p.Ser405=) c.*1217C>G (n.*1217C>G) c.1365C>G (p.Ser455=) c.1284C>G (p.Ser428=) | |
| 12 | g.47844815G= | CA2034408946 | VDR | c.1215C= (p.Ser405=) c.*1217C= (n.*1217C=) c.1365C= (p.Ser455=) c.1284C= (p.Ser428=) | |
| 12 | g.47844815G>T | CA479696467 | VDR | c.1215C>A (p.Ser405=) c.*1217C>A (n.*1217C>A) c.1365C>A (p.Ser455=) c.1284C>A (p.Ser428=) | |
| 12 | g.47844816G>A | CA384513881 | VDR | c.1214C>T (p.Ser405Phe) c.*1216C>T (n.*1216C>T) c.1364C>T (p.Ser455Phe) c.1283C>T (p.Ser428Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844816G>C | CA384513883 | VDR | c.1214C>G (p.Ser405Cys) c.*1216C>G (n.*1216C>G) c.1364C>G (p.Ser455Cys) c.1283C>G (p.Ser428Cys) | |
| 12 | g.47844816G= | CA2034408947 | VDR | c.1214C= (p.Ser405=) c.*1216C= (n.*1216C=) c.1364C= (p.Ser455=) c.1283C= (p.Ser428=) | |
| 12 | g.47844816G>T | CA384513885 | VDR | c.1214C>A (p.Ser405Tyr) c.*1216C>A (n.*1216C>A) c.1364C>A (p.Ser455Tyr) c.1283C>A (p.Ser428Tyr) | |
| 12 | g.47844817A>C | CA384513887 | VDR | c.1213T>G (p.Ser405Ala) c.*1215T>G (n.*1215T>G) c.1363T>G (p.Ser455Ala) c.1282T>G (p.Ser428Ala) | |
| 12 | g.47844817A>G | CA384513891 | VDR | c.1213T>C (p.Ser405Pro) c.*1215T>C (n.*1215T>C) c.1363T>C (p.Ser455Pro) c.1282T>C (p.Ser428Pro) | |
| 12 | g.47844817A>T | CA384513893 | VDR | c.1213T>A (p.Ser405Thr) c.*1215T>A (n.*1215T>A) c.1363T>A (p.Ser455Thr) c.1282T>A (p.Ser428Thr) | |
| 12 | g.47844818G>A | CA479696468 | VDR | c.1212C>T (p.Leu404=) c.*1214C>T (n.*1214C>T) c.1362C>T (p.Leu454=) c.1281C>T (p.Leu427=) | |
| 12 | g.47844818G>C | CA479696469 | VDR | c.1212C>G (p.Leu404=) c.*1214C>G (n.*1214C>G) c.1362C>G (p.Leu454=) c.1281C>G (p.Leu427=) | |
| 12 | g.47844818G>T | CA479696470 | VDR | c.1212C>A (p.Leu404=) c.*1214C>A (n.*1214C>A) c.1362C>A (p.Leu454=) c.1281C>A (p.Leu427=) | gnomAD v4 |
| 12 | g.47844819A>C | CA384513899 | VDR | c.1211T>G (p.Leu404Arg) c.*1213T>G (n.*1213T>G) c.1361T>G (p.Leu454Arg) c.1280T>G (p.Leu427Arg) | |
| 12 | g.47844819A>G | CA384513900 | VDR | c.1211T>C (p.Leu404Pro) c.*1213T>C (n.*1213T>C) c.1361T>C (p.Leu454Pro) c.1280T>C (p.Leu427Pro) | |
| 12 | g.47844819A>T | CA384513897 | VDR | c.1211T>A (p.Leu404His) c.*1213T>A (n.*1213T>A) c.1361T>A (p.Leu454His) c.1280T>A (p.Leu427His) | |
| 12 | g.47844820G>A | CA384513902 | VDR | c.1210C>T (p.Leu404Phe) c.*1212C>T (n.*1212C>T) c.1360C>T (p.Leu454Phe) c.1279C>T (p.Leu427Phe) | |
| 12 | g.47844820G>C | CA384513903 | VDR | c.1210C>G (p.Leu404Val) c.*1212C>G (n.*1212C>G) c.1360C>G (p.Leu454Val) c.1279C>G (p.Leu427Val) |