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.47844795A= | CA2034408939 | VDR | c.1235T= (p.Met412=) c.*1237T= (n.*1237T=) c.1385T= (p.Met462=) c.1304T= (p.Met435=) | |
| 12 | g.47844795A>C | CA384513763 | VDR | c.1235T>G (p.Met412Arg) c.*1237T>G (n.*1237T>G) c.1385T>G (p.Met462Arg) c.1304T>G (p.Met435Arg) | |
| 12 | g.47844795A>G | CA236506020 | VDR | c.1235T>C (p.Met412Thr) c.*1237T>C (n.*1237T>C) c.1385T>C (p.Met462Thr) c.1304T>C (p.Met435Thr) | dbSNP gnomAD v4 |
| 12 | g.47844795A>T | CA384513766 | VDR | c.1235T>A (p.Met412Lys) c.*1237T>A (n.*1237T>A) c.1385T>A (p.Met462Lys) c.1304T>A (p.Met435Lys) | gnomAD v4 |
| 12 | g.47844796T>A | CA384513767 | VDR | c.1234A>T (p.Met412Leu) c.*1236A>T (n.*1236A>T) c.1384A>T (p.Met462Leu) c.1303A>T (p.Met435Leu) | |
| 12 | g.47844796T>C | CA384513768 | VDR | c.1234A>G (p.Met412Val) c.*1236A>G (n.*1236A>G) c.1384A>G (p.Met462Val) c.1303A>G (p.Met435Val) | |
| 12 | g.47844796T>G | CA384513769 | VDR | c.1234A>C (p.Met412Leu) c.*1236A>C (n.*1236A>C) c.1384A>C (p.Met462Leu) c.1303A>C (p.Met435Leu) | |
| 12 | g.47844797G>A | CA479696457 | VDR | c.1233C>T (p.Ser411=) c.*1235C>T (n.*1235C>T) c.1383C>T (p.Ser461=) c.1302C>T (p.Ser434=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844797G>C | CA384513771 | VDR | c.1233C>G (p.Ser411Arg) c.*1235C>G (n.*1235C>G) c.1383C>G (p.Ser461Arg) c.1302C>G (p.Ser434Arg) | |
| 12 | g.47844797G= | CA2034408940 | VDR | c.1233C= (p.Ser411=) c.*1235C= (n.*1235C=) c.1383C= (p.Ser461=) c.1302C= (p.Ser434=) | |
| 12 | g.47844797G>T | CA384513772 | VDR | c.1233C>A (p.Ser411Arg) c.*1235C>A (n.*1235C>A) c.1383C>A (p.Ser461Arg) c.1302C>A (p.Ser434Arg) | |
| 12 | g.47844798C>A | CA384513778 | VDR | c.1232G>T (p.Ser411Ile) c.*1234G>T (n.*1234G>T) c.1382G>T (p.Ser461Ile) c.1301G>T (p.Ser434Ile) | |
| 12 | g.47844798C>G | CA384513781 | VDR | c.1232G>C (p.Ser411Thr) c.*1234G>C (n.*1234G>C) c.1382G>C (p.Ser461Thr) c.1301G>C (p.Ser434Thr) | |
| 12 | g.47844798C>T | CA384513784 | VDR | c.1232G>A (p.Ser411Asn) c.*1234G>A (n.*1234G>A) c.1382G>A (p.Ser461Asn) c.1301G>A (p.Ser434Asn) | |
| 12 | g.47844799T>A | CA384513791 | VDR | c.1231A>T (p.Ser411Cys) c.*1233A>T (n.*1233A>T) c.1381A>T (p.Ser461Cys) c.1300A>T (p.Ser434Cys) | |
| 12 | g.47844799T>C | CA384513789 | VDR | c.1231A>G (p.Ser411Gly) c.*1233A>G (n.*1233A>G) c.1381A>G (p.Ser461Gly) c.1300A>G (p.Ser434Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844799T>G | CA384513786 | VDR | c.1231A>C (p.Ser411Arg) c.*1233A>C (n.*1233A>C) c.1381A>C (p.Ser461Arg) c.1300A>C (p.Ser434Arg) | |
| 12 | g.47844800G>A | CA479696458 | VDR | c.1230C>T (p.Cys410=) c.*1232C>T (n.*1232C>T) c.1380C>T (p.Cys460=) c.1299C>T (p.Cys433=) | |
| 12 | g.47844800G>C | CA384513795 | VDR | c.1230C>G (p.Cys410Trp) c.*1232C>G (n.*1232C>G) c.1380C>G (p.Cys460Trp) c.1299C>G (p.Cys433Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844800G= | CA2034408941 | VDR | c.1230C= (p.Cys410=) c.*1232C= (n.*1232C=) c.1380C= (p.Cys460=) c.1299C= (p.Cys433=) | |
| 12 | g.47844800G>T | CA384513797 | VDR | c.1230C>A (p.Cys410Ter) c.*1232C>A (n.*1232C>A) c.1380C>A (p.Cys460Ter) c.1299C>A (p.Cys433Ter) | |
| 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) |