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.47844787T>A | CA384513717 | VDR | c.1243A>T (p.Thr415Ser) c.*1245A>T (n.*1245A>T) c.1393A>T (p.Thr465Ser) c.1312A>T (p.Thr438Ser) | |
| 12 | g.47844787T>C | CA384513720 | VDR | c.1243A>G (p.Thr415Ala) c.*1245A>G (n.*1245A>G) c.1393A>G (p.Thr465Ala) c.1312A>G (p.Thr438Ala) | |
| 12 | g.47844787T>G | CA384513721 | VDR | c.1243A>C (p.Thr415Pro) c.*1245A>C (n.*1245A>C) c.1393A>C (p.Thr465Pro) c.1312A>C (p.Thr438Pro) | |
| 12 | g.47844788T>A | CA479696452 | VDR | c.1242A>T (p.Leu414=) c.*1244A>T (n.*1244A>T) c.1392A>T (p.Leu464=) c.1311A>T (p.Leu437=) | |
| 12 | g.47844788T>C | CA479696453 | VDR | c.1242A>G (p.Leu414=) c.*1244A>G (n.*1244A>G) c.1392A>G (p.Leu464=) c.1311A>G (p.Leu437=) | |
| 12 | g.47844788T>G | CA479696454 | VDR | c.1242A>C (p.Leu414=) c.*1244A>C (n.*1244A>C) c.1392A>C (p.Leu464=) c.1311A>C (p.Leu437=) | ClinVar |
| 12 | g.47844789A>C | CA384513722 | VDR | c.1241T>G (p.Leu414Arg) c.*1243T>G (n.*1243T>G) c.1391T>G (p.Leu464Arg) c.1310T>G (p.Leu437Arg) | |
| 12 | g.47844789A>G | CA384513724 | VDR | c.1241T>C (p.Leu414Pro) c.*1243T>C (n.*1243T>C) c.1391T>C (p.Leu464Pro) c.1310T>C (p.Leu437Pro) | |
| 12 | g.47844789A>T | CA384513723 | VDR | c.1241T>A (p.Leu414Gln) c.*1243T>A (n.*1243T>A) c.1391T>A (p.Leu464Gln) c.1310T>A (p.Leu437Gln) | |
| 12 | g.47844790G>A | CA479696455 | VDR | c.1240C>T (p.Leu414=) c.*1242C>T (n.*1242C>T) c.1390C>T (p.Leu464=) c.1309C>T (p.Leu437=) | |
| 12 | g.47844790G>C | CA384513726 | VDR | c.1240C>G (p.Leu414Val) c.*1242C>G (n.*1242C>G) c.1390C>G (p.Leu464Val) c.1309C>G (p.Leu437Val) | |
| 12 | g.47844790G>T | CA384513728 | VDR | c.1240C>A (p.Leu414Ile) c.*1242C>A (n.*1242C>A) c.1390C>A (p.Leu464Ile) c.1309C>A (p.Leu437Ile) | |
| 12 | g.47844791C>A | CA384513730 | VDR | c.1239G>T (p.Lys413Asn) c.*1241G>T (n.*1241G>T) c.1389G>T (p.Lys463Asn) c.1308G>T (p.Lys436Asn) | |
| 12 | g.47844791C>G | CA384513732 | VDR | c.1239G>C (p.Lys413Asn) c.*1241G>C (n.*1241G>C) c.1389G>C (p.Lys463Asn) c.1308G>C (p.Lys436Asn) | |
| 12 | g.47844791C>T | CA479696456 | VDR | c.1239G>A (p.Lys413=) c.*1241G>A (n.*1241G>A) c.1389G>A (p.Lys463=) c.1308G>A (p.Lys436=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47844791_47844792delinsCT | CA2034408937 | VDR | c.1238_1239delinsAG (p.Lys413=) c.*1240_*1241delinsAG (n.*1240_*1241delinsAG) c.1388_1389delinsAG (p.Lys463=) c.1307_1308delinsAG (p.Lys436=) | |
| 12 | g.47844792T>A | CA384513736 | VDR | c.1238A>T (p.Lys413Met) c.*1240A>T (n.*1240A>T) c.1388A>T (p.Lys463Met) c.1307A>T (p.Lys436Met) | |
| 12 | g.47844792T>C | CA384513738 | VDR | c.1238A>G (p.Lys413Arg) c.*1240A>G (n.*1240A>G) c.1388A>G (p.Lys463Arg) c.1307A>G (p.Lys436Arg) | |
| 12 | g.47844792T>G | CA384513740 | VDR | c.1238A>C (p.Lys413Thr) c.*1240A>C (n.*1240A>C) c.1388A>C (p.Lys463Thr) c.1307A>C (p.Lys436Thr) | |
| 12 | g.47844793dup | CA2034408938 | VDR | c.1238dup (p.Leu414AlafsTer12) c.*1240dup (n.*1240dup) c.1388dup (p.Leu464AlafsTer12) c.1307dup (p.Leu437AlafsTer12) | dbSNP |
| 12 | g.47844793del | CA6533723 | VDR | c.1238del (p.Lys413SerfsTer2) c.*1240del (n.*1240del) c.1388del (p.Lys463SerfsTer2) c.1307del (p.Lys436SerfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844793T>A | CA384513750 | VDR | c.1237A>T (p.Lys413Ter) c.*1239A>T (n.*1239A>T) c.1387A>T (p.Lys463Ter) c.1306A>T (p.Lys436Ter) | |
| 12 | g.47844793T>C | CA384513753 | VDR | c.1237A>G (p.Lys413Glu) c.*1239A>G (n.*1239A>G) c.1387A>G (p.Lys463Glu) c.1306A>G (p.Lys436Glu) | |
| 12 | g.47844793T>G | CA384513754 | VDR | c.1237A>C (p.Lys413Gln) c.*1239A>C (n.*1239A>C) c.1387A>C (p.Lys463Gln) c.1306A>C (p.Lys436Gln) | |
| 12 | g.47844794C>A | CA384513757 | VDR | c.1236G>T (p.Met412Ile) c.*1238G>T (n.*1238G>T) c.1386G>T (p.Met462Ile) c.1305G>T (p.Met435Ile) | |
| 12 | g.47844794C>G | CA384513760 | VDR | c.1236G>C (p.Met412Ile) c.*1238G>C (n.*1238G>C) c.1386G>C (p.Met462Ile) c.1305G>C (p.Met435Ile) | |
| 12 | g.47844794C>T | CA384513758 | VDR | c.1236G>A (p.Met412Ile) c.*1238G>A (n.*1238G>A) c.1386G>A (p.Met462Ile) c.1305G>A (p.Met435Ile) | COSMIC COSMIC |
| 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 |