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 |
|---|---|---|---|---|---|
| 11 | g.66850066C>A | CA381492059 | PC | c.2769G>T (p.Gln923His) n.290-1G>T c.*778G>T (n.*778G>T) c.*1245G>T (n.*1245G>T) c.129G>T (p.Gln43His) c.1248G>T (p.Gln416His) c.1473G>T (p.Gln491His) c.1404G>T (p.Gln468His) | dbSNP |
| 11 | g.66850066C>G | CA381492061 | PC | c.2769G>C (p.Gln923His) n.290-1G>C c.*778G>C (n.*778G>C) c.*1245G>C (n.*1245G>C) c.129G>C (p.Gln43His) c.1248G>C (p.Gln416His) c.1473G>C (p.Gln491His) c.1404G>C (p.Gln468His) | gnomAD v4 |
| 11 | g.66850066C>T | CA475501219 | PC | c.2769G>A (p.Gln923=) n.290-1G>A c.*778G>A (n.*778G>A) c.*1245G>A (n.*1245G>A) c.129G>A (p.Gln43=) c.1248G>A (p.Gln416=) c.1473G>A (p.Gln491=) c.1404G>A (p.Gln468=) | gnomAD v4 |
| 11 | g.66850067T>A | CA381492063 | PC | c.2768A>T (p.Gln923Leu) n.290-2A>T c.*777A>T (n.*777A>T) c.*1244A>T (n.*1244A>T) c.128A>T (p.Gln43Leu) c.1247A>T (p.Gln416Leu) c.1472A>T (p.Gln491Leu) c.1403A>T (p.Gln468Leu) | |
| 11 | g.66850067T>C | CA381492065 | PC | c.2768A>G (p.Gln923Arg) n.290-2A>G c.*777A>G (n.*777A>G) c.*1244A>G (n.*1244A>G) c.128A>G (p.Gln43Arg) c.1247A>G (p.Gln416Arg) c.1472A>G (p.Gln491Arg) c.1403A>G (p.Gln468Arg) | |
| 11 | g.66850067T>G | CA381492064 | PC | c.2768A>C (p.Gln923Pro) n.290-2A>C c.*777A>C (n.*777A>C) c.*1244A>C (n.*1244A>C) c.128A>C (p.Gln43Pro) c.1247A>C (p.Gln416Pro) c.1472A>C (p.Gln491Pro) c.1403A>C (p.Gln468Pro) | |
| 11 | g.66850068G>A | CA381492067 | PC | c.2767C>T (p.Gln923Ter) n.290-3C>T c.*776C>T (n.*776C>T) c.*1243C>T (n.*1243C>T) c.127C>T (p.Gln43Ter) c.1246C>T (p.Gln416Ter) c.1471C>T (p.Gln491Ter) c.1402C>T (p.Gln468Ter) | |
| 11 | g.66850068G>C | CA381492069 | PC | c.2767C>G (p.Gln923Glu) n.290-3C>G c.*776C>G (n.*776C>G) c.*1243C>G (n.*1243C>G) c.127C>G (p.Gln43Glu) c.1246C>G (p.Gln416Glu) c.1471C>G (p.Gln491Glu) c.1402C>G (p.Gln468Glu) | dbSNP gnomAD v4 |
| 11 | g.66850068G= | CA1979910233 | PC | c.2767C= (p.Gln923=) n.290-3C= c.*776C= (n.*776C=) c.*1243C= (n.*1243C=) c.127C= (p.Gln43=) c.1246C= (p.Gln416=) c.1471C= (p.Gln491=) c.1402C= (p.Gln468=) | |
| 11 | g.66850068G>T | CA381492071 | PC | c.2767C>A (p.Gln923Lys) n.290-3C>A c.*776C>A (n.*776C>A) c.*1243C>A (n.*1243C>A) c.127C>A (p.Gln43Lys) c.1246C>A (p.Gln416Lys) c.1471C>A (p.Gln491Lys) c.1402C>A (p.Gln468Lys) | |
| 11 | g.66850069C>A | CA475501222 | PC | c.2766G>T (p.Val922=) n.290-4G>T c.*775G>T (n.*775G>T) c.*1242G>T (n.*1242G>T) c.126G>T (p.Val42=) c.1245G>T (p.Val415=) c.1470G>T (p.Val490=) c.1401G>T (p.Val467=) | |
| 11 | g.66850069C= | CA1979910243 | PC | c.2766G= (p.Val922=) n.290-4G= c.*775G= (n.*775G=) c.*1242G= (n.*1242G=) c.126G= (p.Val42=) c.1245G= (p.Val415=) c.1470G= (p.Val490=) c.1401G= (p.Val467=) | |
| 11 | g.66850069C>G | CA475501226 | PC | c.2766G>C (p.Val922=) n.290-4G>C c.*775G>C (n.*775G>C) c.*1242G>C (n.*1242G>C) c.126G>C (p.Val42=) c.1245G>C (p.Val415=) c.1470G>C (p.Val490=) c.1401G>C (p.Val467=) | |
| 11 | g.66850069C>T | CA475501224 | PC | c.2766G>A (p.Val922=) n.290-4G>A c.*775G>A (n.*775G>A) c.*1242G>A (n.*1242G>A) c.126G>A (p.Val42=) c.1245G>A (p.Val415=) c.1470G>A (p.Val490=) c.1401G>A (p.Val467=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850070A= | CA1979910250 | PC | c.2765T= (p.Val922=) n.290-5T= c.*774T= (n.*774T=) c.*1241T= (n.*1241T=) c.125T= (p.Val42=) c.1244T= (p.Val415=) c.1469T= (p.Val490=) c.1400T= (p.Val467=) | |
| 11 | g.66850070A>C | CA381492072 | PC | c.2765T>G (p.Val922Gly) n.290-5T>G c.*774T>G (n.*774T>G) c.*1241T>G (n.*1241T>G) c.125T>G (p.Val42Gly) c.1244T>G (p.Val415Gly) c.1469T>G (p.Val490Gly) c.1400T>G (p.Val467Gly) | |
| 11 | g.66850070A>G | CA381492073 | PC | c.2765T>C (p.Val922Ala) n.290-5T>C c.*774T>C (n.*774T>C) c.*1241T>C (n.*1241T>C) c.125T>C (p.Val42Ala) c.1244T>C (p.Val415Ala) c.1469T>C (p.Val490Ala) c.1400T>C (p.Val467Ala) | dbSNP |
| 11 | g.66850070A>T | CA381492074 | PC | c.2765T>A (p.Val922Glu) n.290-5T>A c.*774T>A (n.*774T>A) c.*1241T>A (n.*1241T>A) c.125T>A (p.Val42Glu) c.1244T>A (p.Val415Glu) c.1469T>A (p.Val490Glu) c.1400T>A (p.Val467Glu) | |
| 11 | g.66850071C>A | CA381492077 | PC | c.2764G>T (p.Val922Leu) n.290-6G>T c.*773G>T (n.*773G>T) c.*1240G>T (n.*1240G>T) c.124G>T (p.Val42Leu) c.1243G>T (p.Val415Leu) c.1468G>T (p.Val490Leu) c.1399G>T (p.Val467Leu) | dbSNP |
| 11 | g.66850071C= | CA1979910252 | PC | c.2764G= (p.Val922=) n.290-6G= c.*773G= (n.*773G=) c.*1240G= (n.*1240G=) c.124G= (p.Val42=) c.1243G= (p.Val415=) c.1468G= (p.Val490=) c.1399G= (p.Val467=) | |
| 11 | g.66850071C>G | CA381492078 | PC | c.2764G>C (p.Val922Leu) n.290-6G>C c.*773G>C (n.*773G>C) c.*1240G>C (n.*1240G>C) c.124G>C (p.Val42Leu) c.1243G>C (p.Val415Leu) c.1468G>C (p.Val490Leu) c.1399G>C (p.Val467Leu) | |
| 11 | g.66850071C>T | CA381492079 | PC | c.2764G>A (p.Val922Met) n.290-6G>A c.*773G>A (n.*773G>A) c.*1240G>A (n.*1240G>A) c.124G>A (p.Val42Met) c.1243G>A (p.Val415Met) c.1468G>A (p.Val490Met) c.1399G>A (p.Val467Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850072C>A | CA381492081 | PC | c.2763G>T (p.Met921Ile) n.290-7G>T c.*772G>T (n.*772G>T) c.*1239G>T (n.*1239G>T) c.123G>T (p.Met41Ile) c.1242G>T (p.Met414Ile) c.1467G>T (p.Met489Ile) c.1398G>T (p.Met466Ile) | |
| 11 | g.66850072C>G | CA381492083 | PC | c.2763G>C (p.Met921Ile) n.290-7G>C c.*772G>C (n.*772G>C) c.*1239G>C (n.*1239G>C) c.123G>C (p.Met41Ile) c.1242G>C (p.Met414Ile) c.1467G>C (p.Met489Ile) c.1398G>C (p.Met466Ile) | |
| 11 | g.66850072C>T | CA381492084 | PC | c.2763G>A (p.Met921Ile) n.290-7G>A c.*772G>A (n.*772G>A) c.*1239G>A (n.*1239G>A) c.123G>A (p.Met41Ile) c.1242G>A (p.Met414Ile) c.1467G>A (p.Met489Ile) c.1398G>A (p.Met466Ile) | |
| 11 | g.66850073A>C | CA381492087 | PC | c.2762T>G (p.Met921Arg) n.290-8T>G c.*771T>G (n.*771T>G) c.*1238T>G (n.*1238T>G) c.122T>G (p.Met41Arg) c.1241T>G (p.Met414Arg) c.1466T>G (p.Met489Arg) c.1397T>G (p.Met466Arg) | |
| 11 | g.66850073A>G | CA381492088 | PC | c.2762T>C (p.Met921Thr) n.290-8T>C c.*771T>C (n.*771T>C) c.*1238T>C (n.*1238T>C) c.122T>C (p.Met41Thr) c.1241T>C (p.Met414Thr) c.1466T>C (p.Met489Thr) c.1397T>C (p.Met466Thr) | |
| 11 | g.66850073A>T | CA381492086 | PC | c.2762T>A (p.Met921Lys) n.290-8T>A c.*771T>A (n.*771T>A) c.*1238T>A (n.*1238T>A) c.122T>A (p.Met41Lys) c.1241T>A (p.Met414Lys) c.1466T>A (p.Met489Lys) c.1397T>A (p.Met466Lys) | |
| 11 | g.66850074T>A | CA381492092 | PC | c.2761A>T (p.Met921Leu) n.290-9A>T c.*770A>T (n.*770A>T) c.*1237A>T (n.*1237A>T) c.121A>T (p.Met41Leu) c.1240A>T (p.Met414Leu) c.1465A>T (p.Met489Leu) c.1396A>T (p.Met466Leu) | |
| 11 | g.66850074T>C | CA381492090 | PC | c.2761A>G (p.Met921Val) n.290-9A>G c.*770A>G (n.*770A>G) c.*1237A>G (n.*1237A>G) c.121A>G (p.Met41Val) c.1240A>G (p.Met414Val) c.1465A>G (p.Met489Val) c.1396A>G (p.Met466Val) | |
| 11 | g.66850074T>G | CA381492094 | PC | c.2761A>C (p.Met921Leu) n.290-9A>C c.*770A>C (n.*770A>C) c.*1237A>C (n.*1237A>C) c.121A>C (p.Met41Leu) c.1240A>C (p.Met414Leu) c.1465A>C (p.Met489Leu) c.1396A>C (p.Met466Leu) | |
| 11 | g.66850075A= | CA1979910263 | PC | c.2760T= (p.Phe920=) n.290-10T= c.*769T= (n.*769T=) c.*1236T= (n.*1236T=) c.120T= (p.Phe40=) c.1239T= (p.Phe413=) c.1464T= (p.Phe488=) c.1395T= (p.Phe465=) | |
| 11 | g.66850075A>C | CA381492095 | PC | c.2760T>G (p.Phe920Leu) n.290-10T>G c.*769T>G (n.*769T>G) c.*1236T>G (n.*1236T>G) c.120T>G (p.Phe40Leu) c.1239T>G (p.Phe413Leu) c.1464T>G (p.Phe488Leu) c.1395T>G (p.Phe465Leu) | |
| 11 | g.66850075A>G | CA475501234 | PC | c.2760T>C (p.Phe920=) n.290-10T>C c.*769T>C (n.*769T>C) c.*1236T>C (n.*1236T>C) c.120T>C (p.Phe40=) c.1239T>C (p.Phe413=) c.1464T>C (p.Phe488=) c.1395T>C (p.Phe465=) | dbSNP |
| 11 | g.66850075A>T | CA381492096 | PC | c.2760T>A (p.Phe920Leu) n.290-10T>A c.*769T>A (n.*769T>A) c.*1236T>A (n.*1236T>A) c.120T>A (p.Phe40Leu) c.1239T>A (p.Phe413Leu) c.1464T>A (p.Phe488Leu) c.1395T>A (p.Phe465Leu) | |
| 11 | g.66850076A>C | CA381492097 | PC | c.2759T>G (p.Phe920Cys) n.290-11T>G c.*768T>G (n.*768T>G) c.*1235T>G (n.*1235T>G) c.119T>G (p.Phe40Cys) c.1238T>G (p.Phe413Cys) c.1463T>G (p.Phe488Cys) c.1394T>G (p.Phe465Cys) | gnomAD v4 |
| 11 | g.66850076A>G | CA381492098 | PC | c.2759T>C (p.Phe920Ser) n.290-11T>C c.*768T>C (n.*768T>C) c.*1235T>C (n.*1235T>C) c.119T>C (p.Phe40Ser) c.1238T>C (p.Phe413Ser) c.1463T>C (p.Phe488Ser) c.1394T>C (p.Phe465Ser) | |
| 11 | g.66850076A>T | CA381492099 | PC | c.2759T>A (p.Phe920Tyr) n.290-11T>A c.*768T>A (n.*768T>A) c.*1235T>A (n.*1235T>A) c.119T>A (p.Phe40Tyr) c.1238T>A (p.Phe413Tyr) c.1463T>A (p.Phe488Tyr) c.1394T>A (p.Phe465Tyr) | |
| 11 | g.66850077A>C | CA381492101 | PC | c.2758T>G (p.Phe920Val) n.290-12T>G c.*767T>G (n.*767T>G) c.*1234T>G (n.*1234T>G) c.118T>G (p.Phe40Val) c.1237T>G (p.Phe413Val) c.1462T>G (p.Phe488Val) c.1393T>G (p.Phe465Val) | |
| 11 | g.66850077A>G | CA381492102 | PC | c.2758T>C (p.Phe920Leu) n.290-12T>C c.*767T>C (n.*767T>C) c.*1234T>C (n.*1234T>C) c.118T>C (p.Phe40Leu) c.1237T>C (p.Phe413Leu) c.1462T>C (p.Phe488Leu) c.1393T>C (p.Phe465Leu) | |
| 11 | g.66850077A>T | CA381492103 | PC | c.2758T>A (p.Phe920Ile) n.290-12T>A c.*767T>A (n.*767T>A) c.*1234T>A (n.*1234T>A) c.118T>A (p.Phe40Ile) c.1237T>A (p.Phe413Ile) c.1462T>A (p.Phe488Ile) c.1393T>A (p.Phe465Ile) | |
| 11 | g.66850078C>A | CA381492104 | PC | c.2757G>T (p.Gln919His) n.290-13G>T c.*766G>T (n.*766G>T) c.*1233G>T (n.*1233G>T) c.117G>T (p.Gln39His) c.1236G>T (p.Gln412His) c.1461G>T (p.Gln487His) c.1392G>T (p.Gln464His) | gnomAD v4 |
| 11 | g.66850078C>G | CA381492106 | PC | c.2757G>C (p.Gln919His) n.290-13G>C c.*766G>C (n.*766G>C) c.*1233G>C (n.*1233G>C) c.117G>C (p.Gln39His) c.1236G>C (p.Gln412His) c.1461G>C (p.Gln487His) c.1392G>C (p.Gln464His) | |
| 11 | g.66850078C>T | CA475501238 | PC | c.2757G>A (p.Gln919=) n.290-13G>A c.*766G>A (n.*766G>A) c.*1233G>A (n.*1233G>A) c.117G>A (p.Gln39=) c.1236G>A (p.Gln412=) c.1461G>A (p.Gln487=) c.1392G>A (p.Gln464=) | |
| 11 | g.66850079T>A | CA381492108 | PC | c.2756A>T (p.Gln919Leu) n.290-14A>T c.*765A>T (n.*765A>T) c.*1232A>T (n.*1232A>T) c.116A>T (p.Gln39Leu) c.1235A>T (p.Gln412Leu) c.1460A>T (p.Gln487Leu) c.1391A>T (p.Gln464Leu) | |
| 11 | g.66850079T>C | CA381492110 | PC | c.2756A>G (p.Gln919Arg) n.290-14A>G c.*765A>G (n.*765A>G) c.*1232A>G (n.*1232A>G) c.116A>G (p.Gln39Arg) c.1235A>G (p.Gln412Arg) c.1460A>G (p.Gln487Arg) c.1391A>G (p.Gln464Arg) | |
| 11 | g.66850079T>G | CA381492111 | PC | c.2756A>C (p.Gln919Pro) n.290-14A>C c.*765A>C (n.*765A>C) c.*1232A>C (n.*1232A>C) c.116A>C (p.Gln39Pro) c.1235A>C (p.Gln412Pro) c.1460A>C (p.Gln487Pro) c.1391A>C (p.Gln464Pro) | |
| 11 | g.66850080G>A | CA381492112 | PC | c.2755C>T (p.Gln919Ter) n.290-15C>T c.*764C>T (n.*764C>T) c.*1231C>T (n.*1231C>T) c.115C>T (p.Gln39Ter) c.1234C>T (p.Gln412Ter) c.1459C>T (p.Gln487Ter) c.1390C>T (p.Gln464Ter) | |
| 11 | g.66850080G>C | CA381492116 | PC | c.2755C>G (p.Gln919Glu) n.290-15C>G c.*764C>G (n.*764C>G) c.*1231C>G (n.*1231C>G) c.115C>G (p.Gln39Glu) c.1234C>G (p.Gln412Glu) c.1459C>G (p.Gln487Glu) c.1390C>G (p.Gln464Glu) | |
| 11 | g.66850080G= | CA1979910267 | PC | c.2755C= (p.Gln919=) n.290-15C= c.*764C= (n.*764C=) c.*1231C= (n.*1231C=) c.115C= (p.Gln39=) c.1234C= (p.Gln412=) c.1459C= (p.Gln487=) c.1390C= (p.Gln464=) |