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 |
|---|---|---|---|---|---|
| X | g.154961140_154961145dup | CA1139667915 | F8 | c.1467_1472dup (p.Pro491_Tyr492insArgPro) c.*1343_*1348dup (n.*1343_*1348dup) c.1362_1367dup (p.Pro456_Tyr457insArgPro) | ClinVar dbSNP |
| X | g.154961141G>A | CA337334243 | F8 | c.1471C>T (p.Pro491Ser) c.*1347C>T (n.*1347C>T) c.1366C>T (p.Pro456Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154961141G>C | CA414912827 | F8 | c.1471C>G (p.Pro491Ala) c.*1347C>G (n.*1347C>G) c.1366C>G (p.Pro456Ala) | |
| X | g.154961141G= | CA2466846503 | F8 | c.1471C= (p.Pro491=) c.*1347C= (n.*1347C=) c.1366C= (p.Pro456=) | |
| X | g.154961141G>T | CA414912828 | F8 | c.1471C>A (p.Pro491Thr) c.*1347C>A (n.*1347C>A) c.1366C>A (p.Pro456Thr) | gnomAD v4 |
| X | g.154961142T>A | CA414912830 | F8 | c.1470A>T (p.Arg490Ser) c.*1346A>T (n.*1346A>T) c.1365A>T (p.Arg455Ser) | |
| X | g.154961142T>C | CA519361166 | F8 | c.1470A>G (p.Arg490=) c.*1346A>G (n.*1346A>G) c.1365A>G (p.Arg455=) | gnomAD v4 |
| X | g.154961142T>G | CA414912832 | F8 | c.1470A>C (p.Arg490Ser) c.*1346A>C (n.*1346A>C) c.1365A>C (p.Arg455Ser) | |
| X | g.154961143C>A | CA414912834 | F8 | c.1469G>T (p.Arg490Ile) c.*1345G>T (n.*1345G>T) c.1364G>T (p.Arg455Ile) | |
| X | g.154961143C>G | CA414912836 | F8 | c.1469G>C (p.Arg490Thr) c.*1345G>C (n.*1345G>C) c.1364G>C (p.Arg455Thr) | |
| X | g.154961143C>T | CA414912837 | F8 | c.1469G>A (p.Arg490Lys) c.*1345G>A (n.*1345G>A) c.1364G>A (p.Arg455Lys) | |
| X | g.154961144T>A | CA414912840 | F8 | c.1468A>T (p.Arg490Ter) c.*1344A>T (n.*1344A>T) c.1363A>T (p.Arg455Ter) | |
| X | g.154961144T>C | CA414912841 | F8 | c.1468A>G (p.Arg490Gly) c.*1344A>G (n.*1344A>G) c.1363A>G (p.Arg455Gly) | ClinVar dbSNP |
| X | g.154961144T>G | CA519361193 | F8 | c.1468A>C (p.Arg490=) c.*1344A>C (n.*1344A>C) c.1363A>C (p.Arg455=) | |
| X | g.154961144T= | CA2466846504 | F8 | c.1468A= (p.Arg490=) c.*1344A= (n.*1344A=) c.1363A= (p.Arg455=) | |
| X | g.154961145G>A | CA10568451 | F8 | c.1467C>T (p.Ser489=) c.*1343C>T (n.*1343C>T) c.1362C>T (p.Ser454=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154961145G>C | CA414912843 | F8 | c.1467C>G (p.Ser489Arg) c.*1343C>G (n.*1343C>G) c.1362C>G (p.Ser454Arg) | |
| X | g.154961145G= | CA2466846505 | F8 | c.1467C= (p.Ser489=) c.*1343C= (n.*1343C=) c.1362C= (p.Ser454=) | |
| X | g.154961145G>T | CA414912845 | F8 | c.1467C>A (p.Ser489Arg) c.*1343C>A (n.*1343C>A) c.1362C>A (p.Ser454Arg) | gnomAD v4 |
| X | g.154961146C>A | CA414912849 | F8 | c.1466G>T (p.Ser489Ile) c.*1342G>T (n.*1342G>T) c.1361G>T (p.Ser454Ile) | |
| X | g.154961146C= | CA2466846506 | F8 | c.1466G= (p.Ser489=) c.*1342G= (n.*1342G=) c.1361G= (p.Ser454=) | |
| X | g.154961146C>G | CA414912851 | F8 | c.1466G>C (p.Ser489Thr) c.*1342G>C (n.*1342G>C) c.1361G>C (p.Ser454Thr) | |
| X | g.154961146C>T | CA337334263 | F8 | c.1466G>A (p.Ser489Asn) c.*1342G>A (n.*1342G>A) c.1361G>A (p.Ser454Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154961147T>A | CA414912853 | F8 | c.1465A>T (p.Ser489Cys) c.*1341A>T (n.*1341A>T) c.1360A>T (p.Ser454Cys) | |
| X | g.154961147T>C | CA414912855 | F8 | c.1465A>G (p.Ser489Gly) c.*1341A>G (n.*1341A>G) c.1360A>G (p.Ser454Gly) | |
| X | g.154961147T>G | CA414912857 | F8 | c.1465A>C (p.Ser489Arg) c.*1341A>C (n.*1341A>C) c.1360A>C (p.Ser454Arg) | |
| X | g.154961148T>A | CA519361214 | F8 | c.1464A>T (p.Ala488=) c.*1340A>T (n.*1340A>T) c.1359A>T (p.Ala453=) | |
| X | g.154961148T>C | CA519361216 | F8 | c.1464A>G (p.Ala488=) c.*1340A>G (n.*1340A>G) c.1359A>G (p.Ala453=) | |
| X | g.154961148T>G | CA519361217 | F8 | c.1464A>C (p.Ala488=) c.*1340A>C (n.*1340A>C) c.1359A>C (p.Ala453=) | |
| X | g.154961149G>A | CA414912858 | F8 | c.1463C>T (p.Ala488Val) c.*1339C>T (n.*1339C>T) c.1358C>T (p.Ala453Val) | dbSNP |
| X | g.154961149G>C | CA10568452 | F8 | c.1463C>G (p.Ala488Gly) c.*1339C>G (n.*1339C>G) c.1358C>G (p.Ala453Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154961149G= | CA2466846507 | F8 | c.1463C= (p.Ala488=) c.*1339C= (n.*1339C=) c.1358C= (p.Ala453=) | |
| X | g.154961149G>T | CA414912860 | F8 | c.1463C>A (p.Ala488Glu) c.*1339C>A (n.*1339C>A) c.1358C>A (p.Ala453Glu) | COSMIC COSMIC |
| X | g.154961150C>A | CA414912863 | F8 | c.1462G>T (p.Ala488Ser) c.*1338G>T (n.*1338G>T) c.1357G>T (p.Ala453Ser) | |
| X | g.154961150C>G | CA414912864 | F8 | c.1462G>C (p.Ala488Pro) c.*1338G>C (n.*1338G>C) c.1357G>C (p.Ala453Pro) | ClinVar |
| X | g.154961150C>T | CA414912862 | F8 | c.1462G>A (p.Ala488Thr) c.*1338G>A (n.*1338G>A) c.1357G>A (p.Ala453Thr) | gnomAD v4 |
| X | g.154961153_154961159dup | CA2695237277 | F8 | c.1456_1462dup (p.Ala488GlufsTer8) c.*1332_*1338dup (n.*1332_*1338dup) c.1351_1357dup (p.Ala453GlufsTer8) | |
| X | g.154961151T>A | CA414912865 | F8 | c.1461A>T (p.Gln487His) c.*1337A>T (n.*1337A>T) c.1356A>T (p.Gln452His) | |
| X | g.154961151T>C | CA519361246 | F8 | c.1461A>G (p.Gln487=) c.*1337A>G (n.*1337A>G) c.1356A>G (p.Gln452=) | |
| X | g.154961151T>G | CA414912866 | F8 | c.1461A>C (p.Gln487His) c.*1337A>C (n.*1337A>C) c.1356A>C (p.Gln452His) | |
| X | g.154961152T>A | CA414912869 | F8 | c.1460A>T (p.Gln487Leu) c.*1336A>T (n.*1336A>T) c.1355A>T (p.Gln452Leu) | |
| X | g.154961152T>C | CA414912872 | F8 | c.1460A>G (p.Gln487Arg) c.*1336A>G (n.*1336A>G) c.1355A>G (p.Gln452Arg) | gnomAD v4 |
| X | g.154961152T>G | CA414912874 | F8 | c.1460A>C (p.Gln487Pro) c.*1336A>C (n.*1336A>C) c.1355A>C (p.Gln452Pro) | |
| X | g.154961153del | CA2579744732 | F8 | c.1459del (p.Gln487LysfsTer28) c.*1335del (n.*1335del) c.1354del (p.Gln452LysfsTer28) | |
| X | g.154961153G>A | CA414912879 | F8 | c.1459C>T (p.Gln487Ter) c.*1335C>T (n.*1335C>T) c.1354C>T (p.Gln452Ter) | dbSNP |
| X | g.154961153G>C | CA414912875 | F8 | c.1459C>G (p.Gln487Glu) c.*1335C>G (n.*1335C>G) c.1354C>G (p.Gln452Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154961153G= | CA2466846508 | F8 | c.1459C= (p.Gln487=) c.*1335C= (n.*1335C=) c.1354C= (p.Gln452=) | |
| X | g.154961153G>T | CA414912877 | F8 | c.1459C>A (p.Gln487Lys) c.*1335C>A (n.*1335C>A) c.1354C>A (p.Gln452Lys) | gnomAD v4 |
| X | g.154961154A>C | CA414912880 | F8 | c.1458T>G (p.Asn486Lys) c.*1334T>G (n.*1334T>G) c.1353T>G (p.Asn451Lys) | |
| X | g.154961154A>G | CA519361297 | F8 | c.1458T>C (p.Asn486=) c.*1334T>C (n.*1334T>C) c.1353T>C (p.Asn451=) |