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.47844801C>A | CA384513803 | VDR | c.1229G>T (p.Cys410Phe) c.*1231G>T (n.*1231G>T) c.1379G>T (p.Cys460Phe) c.1298G>T (p.Cys433Phe) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47844801C= | CA2034408942 | VDR | c.1229G= (p.Cys410=) c.*1231G= (n.*1231G=) c.1379G= (p.Cys460=) c.1298G= (p.Cys433=) | |
| 12 | g.47844801C>G | CA384513805 | VDR | c.1229G>C (p.Cys410Ser) c.*1231G>C (n.*1231G>C) c.1379G>C (p.Cys460Ser) c.1298G>C (p.Cys433Ser) | |
| 12 | g.47844801C>T | CA384513812 | VDR | c.1229G>A (p.Cys410Tyr) c.*1231G>A (n.*1231G>A) c.1379G>A (p.Cys460Tyr) c.1298G>A (p.Cys433Tyr) | |
| 12 | g.47844802A>C | CA384513816 | VDR | c.1228T>G (p.Cys410Gly) c.*1230T>G (n.*1230T>G) c.1378T>G (p.Cys460Gly) c.1297T>G (p.Cys433Gly) | |
| 12 | g.47844802A>G | CA384513821 | VDR | c.1228T>C (p.Cys410Arg) c.*1230T>C (n.*1230T>C) c.1378T>C (p.Cys460Arg) c.1297T>C (p.Cys433Arg) | |
| 12 | g.47844802A>T | CA384513823 | VDR | c.1228T>A (p.Cys410Ser) c.*1230T>A (n.*1230T>A) c.1378T>A (p.Cys460Ser) c.1297T>A (p.Cys433Ser) | |
| 12 | g.47844803C>A | CA384513825 | VDR | c.1227G>T (p.Glu409Asp) c.*1229G>T (n.*1229G>T) c.1377G>T (p.Glu459Asp) c.1296G>T (p.Glu432Asp) | |
| 12 | g.47844803C>G | CA384513827 | VDR | c.1227G>C (p.Glu409Asp) c.*1229G>C (n.*1229G>C) c.1377G>C (p.Glu459Asp) c.1296G>C (p.Glu432Asp) | |
| 12 | g.47844803C>T | CA479696459 | VDR | c.1227G>A (p.Glu409=) c.*1229G>A (n.*1229G>A) c.1377G>A (p.Glu459=) c.1296G>A (p.Glu432=) | |
| 12 | g.47844804T>A | CA384513830 | VDR | c.1226A>T (p.Glu409Val) c.*1228A>T (n.*1228A>T) c.1376A>T (p.Glu459Val) c.1295A>T (p.Glu432Val) | |
| 12 | g.47844804T>C | CA384513832 | VDR | c.1226A>G (p.Glu409Gly) c.*1228A>G (n.*1228A>G) c.1376A>G (p.Glu459Gly) c.1295A>G (p.Glu432Gly) | |
| 12 | g.47844804T>G | CA384513834 | VDR | c.1226A>C (p.Glu409Ala) c.*1228A>C (n.*1228A>C) c.1376A>C (p.Glu459Ala) c.1295A>C (p.Glu432Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844804T= | CA2034408943 | VDR | c.1226A= (p.Glu409=) c.*1228A= (n.*1228A=) c.1376A= (p.Glu459=) c.1295A= (p.Glu432=) | |
| 12 | g.47844805C>A | CA384513838 | VDR | c.1225G>T (p.Glu409Ter) c.*1227G>T (n.*1227G>T) c.1375G>T (p.Glu459Ter) c.1294G>T (p.Glu432Ter) | |
| 12 | g.47844805C>G | CA384513840 | VDR | c.1225G>C (p.Glu409Gln) c.*1227G>C (n.*1227G>C) c.1375G>C (p.Glu459Gln) c.1294G>C (p.Glu432Gln) | |
| 12 | g.47844805C>T | CA384513836 | VDR | c.1225G>A (p.Glu409Lys) c.*1227G>A (n.*1227G>A) c.1375G>A (p.Glu459Lys) c.1294G>A (p.Glu432Lys) | |
| 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=) |