WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.129569336_129575185del | CA923726337 | OCRL | c.*1831_*1940del c.1656_1765del c.1539_1648del c.1587_1696del c.650_759del c.1190_1299del c.1068_1177del c.1542_1651del c.1395_1504del | |
| X | g.129569369C>A | CA414616529 | OCRL | c.*1864C>A (n.*1864C>A) c.1689C>A c.1572C>A (p.His524Gln) c.1620C>A c.683C>A c.1223C>A c.1101C>A (p.His367Gln) c.1575C>A (p.His525Gln) c.1428C>A (p.His476Gln) | |
| X | g.129569369C= | CA2458101732 | OCRL | c.*1864C= (n.*1864C=) c.1689C= c.1572C= (p.His524=) c.1620C= c.683C= c.1223C= c.1101C= (p.His367=) c.1575C= (p.His525=) c.1428C= (p.His476=) | |
| X | g.129569369C>G | CA255585 | OCRL | c.*1864C>G (n.*1864C>G) c.1689C>G c.1572C>G (p.His524Gln) c.1620C>G c.683C>G c.1223C>G c.1101C>G (p.His367Gln) c.1575C>G (p.His525Gln) c.1428C>G (p.His476Gln) | ClinVar dbSNP |
| X | g.129569369C>T | CA518545930 | OCRL | c.*1864C>T (n.*1864C>T) c.1689C>T c.1572C>T (p.His524=) c.1620C>T c.683C>T c.1223C>T c.1101C>T (p.His367=) c.1575C>T (p.His525=) c.1428C>T (p.His476=) | |
| X | g.129569370A= | CA2458101733 | OCRL | c.*1865A= (n.*1865A=) c.1690A= c.1573A= (p.Lys525=) c.1621A= c.684A= c.1224A= c.1102A= (p.Lys368=) c.1576A= (p.Lys526=) c.1429A= (p.Lys477=) | |
| X | g.129569370A>C | CA16608262 | OCRL | c.*1865A>C (n.*1865A>C) c.1690A>C c.1573A>C (p.Lys525Gln) c.1621A>C c.684A>C c.1224A>C c.1102A>C (p.Lys368Gln) c.1576A>C (p.Lys526Gln) c.1429A>C (p.Lys477Gln) | ClinVar dbSNP |
| X | g.129569370A>G | CA414616530 | OCRL | c.*1865A>G (n.*1865A>G) c.1690A>G c.1573A>G (p.Lys525Glu) c.1621A>G c.684A>G c.1224A>G c.1102A>G (p.Lys368Glu) c.1576A>G (p.Lys526Glu) c.1429A>G (p.Lys477Glu) | |
| X | g.129569370A>T | CA414616531 | OCRL | c.*1865A>T (n.*1865A>T) c.1690A>T c.1573A>T (p.Lys525Ter) c.1621A>T c.684A>T c.1224A>T c.1102A>T (p.Lys368Ter) c.1576A>T (p.Lys526Ter) c.1429A>T (p.Lys477Ter) | |
| X | g.129569371A>C | CA414616532 | OCRL | c.*1866A>C (n.*1866A>C) c.1691A>C c.1574A>C (p.Lys525Thr) c.1622A>C c.685A>C c.1225A>C c.1103A>C (p.Lys368Thr) c.1577A>C (p.Lys526Thr) c.1430A>C (p.Lys477Thr) | |
| X | g.129569371A>G | CA414616533 | OCRL | c.*1866A>G (n.*1866A>G) c.1691A>G c.1574A>G (p.Lys525Arg) c.1622A>G c.685A>G c.1225A>G c.1103A>G (p.Lys368Arg) c.1577A>G (p.Lys526Arg) c.1430A>G (p.Lys477Arg) | |
| X | g.129569371A>T | CA414616534 | OCRL | c.*1866A>T (n.*1866A>T) c.1691A>T c.1574A>T (p.Lys525Met) c.1622A>T c.685A>T c.1225A>T c.1103A>T (p.Lys368Met) c.1577A>T (p.Lys526Met) c.1430A>T (p.Lys477Met) | |
| X | g.129569372G>A | CA518545931 | OCRL | c.*1867G>A (n.*1867G>A) c.1692G>A c.1575G>A (p.Lys525=) c.1623G>A c.686G>A c.1226G>A c.1104G>A (p.Lys368=) c.1578G>A (p.Lys526=) c.1431G>A (p.Lys477=) | |
| X | g.129569372G>C | CA414616535 | OCRL | c.*1867G>C (n.*1867G>C) c.1692G>C c.1575G>C (p.Lys525Asn) c.1623G>C c.686G>C c.1226G>C c.1104G>C (p.Lys368Asn) c.1578G>C (p.Lys526Asn) c.1431G>C (p.Lys477Asn) | |
| X | g.129569372G>T | CA414616536 | OCRL | c.*1867G>T (n.*1867G>T) c.1692G>T c.1575G>T (p.Lys525Asn) c.1623G>T c.686G>T c.1226G>T c.1104G>T (p.Lys368Asn) c.1578G>T (p.Lys526Asn) c.1431G>T (p.Lys477Asn) | |
| X | g.129569373C>A | CA414616537 | OCRL | c.*1868C>A (n.*1868C>A) c.1693C>A c.1576C>A (p.Pro526Thr) c.1624C>A c.687C>A c.1227C>A c.1105C>A (p.Pro369Thr) c.1579C>A (p.Pro527Thr) c.1432C>A (p.Pro478Thr) | gnomAD v4 |
| X | g.129569373C= | CA2458101734 | OCRL | c.*1868C= (n.*1868C=) c.1693C= c.1576C= (p.Pro526=) c.1624C= c.687C= c.1227C= c.1105C= (p.Pro369=) c.1579C= (p.Pro527=) c.1432C= (p.Pro478=) | |
| X | g.129569373C>G | CA414616538 | OCRL | c.*1868C>G (n.*1868C>G) c.1693C>G c.1576C>G (p.Pro526Ala) c.1624C>G c.687C>G c.1227C>G c.1105C>G (p.Pro369Ala) c.1579C>G (p.Pro527Ala) c.1432C>G (p.Pro478Ala) | |
| X | g.129569373C>T | CA10588739 | OCRL | c.*1868C>T (n.*1868C>T) c.1693C>T c.1576C>T (p.Pro526Ser) c.1624C>T c.687C>T c.1227C>T c.1105C>T (p.Pro369Ser) c.1579C>T (p.Pro527Ser) c.1432C>T (p.Pro478Ser) | ClinVar dbSNP |
| X | g.129569374C>A | CA414616540 | OCRL | c.*1869C>A (n.*1869C>A) c.1694C>A c.1577C>A (p.Pro526His) c.1625C>A c.688C>A c.1228C>A c.1106C>A (p.Pro369His) c.1580C>A (p.Pro527His) c.1433C>A (p.Pro478His) | |
| X | g.129569374C= | CA2458101735 | OCRL | c.*1869C= (n.*1869C=) c.1694C= c.1577C= (p.Pro526=) c.1625C= c.688C= c.1228C= c.1106C= (p.Pro369=) c.1580C= (p.Pro527=) c.1433C= (p.Pro478=) | |
| X | g.129569374C>G | CA414616539 | OCRL | c.*1869C>G (n.*1869C>G) c.1694C>G c.1577C>G (p.Pro526Arg) c.1625C>G c.688C>G c.1228C>G c.1106C>G (p.Pro369Arg) c.1580C>G (p.Pro527Arg) c.1433C>G (p.Pro478Arg) | |
| X | g.129569374C>T | CA266162 | OCRL | c.*1869C>T (n.*1869C>T) c.1694C>T c.1577C>T (p.Pro526Leu) c.1625C>T c.688C>T c.1228C>T c.1106C>T (p.Pro369Leu) c.1580C>T (p.Pro527Leu) c.1433C>T (p.Pro478Leu) | ClinVar dbSNP |
| X | g.129569375T>A | CA518545933 | OCRL | c.*1870T>A (n.*1870T>A) c.1695T>A c.1578T>A (p.Pro526=) c.1626T>A c.689T>A c.1229T>A c.1107T>A (p.Pro369=) c.1581T>A (p.Pro527=) c.1434T>A (p.Pro478=) | |
| X | g.129569375T>C | CA518545934 | OCRL | c.*1870T>C (n.*1870T>C) c.1695T>C c.1578T>C (p.Pro526=) c.1626T>C c.689T>C c.1229T>C c.1107T>C (p.Pro369=) c.1581T>C (p.Pro527=) c.1434T>C (p.Pro478=) | |
| X | g.129569375T>G | CA518545935 | OCRL | c.*1870T>G (n.*1870T>G) c.1695T>G c.1578T>G (p.Pro526=) c.1626T>G c.689T>G c.1229T>G c.1107T>G (p.Pro369=) c.1581T>G (p.Pro527=) c.1434T>G (p.Pro478=) | |
| X | g.129569376G>A | CA414616541 | OCRL | c.*1871G>A (n.*1871G>A) c.1696G>A c.1579G>A (p.Val527Ile) c.1627G>A c.690G>A c.1230G>A c.1108G>A (p.Val370Ile) c.1582G>A (p.Val528Ile) c.1435G>A (p.Val479Ile) | |
| X | g.129569376G>C | CA414616542 | OCRL | c.*1871G>C (n.*1871G>C) c.1696G>C c.1579G>C (p.Val527Leu) c.1627G>C c.690G>C c.1230G>C c.1108G>C (p.Val370Leu) c.1582G>C (p.Val528Leu) c.1435G>C (p.Val479Leu) | |
| X | g.129569376G>T | CA414616543 | OCRL | c.*1871G>T (n.*1871G>T) c.1696G>T c.1579G>T (p.Val527Phe) c.1627G>T c.690G>T c.1230G>T c.1108G>T (p.Val370Phe) c.1582G>T (p.Val528Phe) c.1435G>T (p.Val479Phe) | |
| X | g.129569377T>A | CA414616544 | OCRL | c.*1872T>A (n.*1872T>A) c.1697T>A c.1580T>A (p.Val527Asp) c.1628T>A c.691T>A c.1231T>A c.1109T>A (p.Val370Asp) c.1583T>A (p.Val528Asp) c.1436T>A (p.Val479Asp) | ClinVar |
| X | g.129569377T>C | CA414616545 | OCRL | c.*1872T>C (n.*1872T>C) c.1697T>C c.1580T>C (p.Val527Ala) c.1628T>C c.691T>C c.1231T>C c.1109T>C (p.Val370Ala) c.1583T>C (p.Val528Ala) c.1436T>C (p.Val479Ala) | |
| X | g.129569377T>G | CA414616546 | OCRL | c.*1872T>G (n.*1872T>G) c.1697T>G c.1580T>G (p.Val527Gly) c.1628T>G c.691T>G c.1231T>G c.1109T>G (p.Val370Gly) c.1583T>G (p.Val528Gly) c.1436T>G (p.Val479Gly) | |
| X | g.129569378T>A | CA518545936 | OCRL | c.*1873T>A (n.*1873T>A) c.1698T>A c.1581T>A (p.Val527=) c.1629T>A c.692T>A c.1232T>A c.1110T>A (p.Val370=) c.1584T>A (p.Val528=) c.1437T>A (p.Val479=) | |
| X | g.129569378T>C | CA518545937 | OCRL | c.*1873T>C (n.*1873T>C) c.1698T>C c.1581T>C (p.Val527=) c.1629T>C c.692T>C c.1232T>C c.1110T>C (p.Val370=) c.1584T>C (p.Val528=) c.1437T>C (p.Val479=) | |
| X | g.129569378T>G | CA518545938 | OCRL | c.*1873T>G (n.*1873T>G) c.1698T>G c.1581T>G (p.Val527=) c.1629T>G c.692T>G c.1232T>G c.1110T>G (p.Val370=) c.1584T>G (p.Val528=) c.1437T>G (p.Val479=) | |
| X | g.129569379A>C | CA414616547 | OCRL | c.*1874A>C (n.*1874A>C) c.1699A>C c.1582A>C (p.Ser528Arg) c.1630A>C c.693A>C c.1233A>C c.1111A>C (p.Ser371Arg) c.1585A>C (p.Ser529Arg) c.1438A>C (p.Ser480Arg) | |
| X | g.129569379A>G | CA414616548 | OCRL | c.*1874A>G (n.*1874A>G) c.1699A>G c.1582A>G (p.Ser528Gly) c.1630A>G c.693A>G c.1233A>G c.1111A>G (p.Ser371Gly) c.1585A>G (p.Ser529Gly) c.1438A>G (p.Ser480Gly) | |
| X | g.129569379A>T | CA414616549 | OCRL | c.*1874A>T (n.*1874A>T) c.1699A>T c.1582A>T (p.Ser528Cys) c.1630A>T c.693A>T c.1233A>T c.1111A>T (p.Ser371Cys) c.1585A>T (p.Ser529Cys) c.1438A>T (p.Ser480Cys) | |
| X | g.129569380G>A | CA414616550 | OCRL | c.*1875G>A (n.*1875G>A) c.1700G>A c.1583G>A (p.Ser528Asn) c.1631G>A c.694G>A c.1234G>A c.1112G>A (p.Ser371Asn) c.1586G>A (p.Ser529Asn) c.1439G>A (p.Ser480Asn) | |
| X | g.129569380G>C | CA414616551 | OCRL | c.*1875G>C (n.*1875G>C) c.1700G>C c.1583G>C (p.Ser528Thr) c.1631G>C c.694G>C c.1234G>C c.1112G>C (p.Ser371Thr) c.1586G>C (p.Ser529Thr) c.1439G>C (p.Ser480Thr) | |
| X | g.129569380G>T | CA414616552 | OCRL | c.*1875G>T (n.*1875G>T) c.1700G>T c.1583G>T (p.Ser528Ile) c.1631G>T c.694G>T c.1234G>T c.1112G>T (p.Ser371Ile) c.1586G>T (p.Ser529Ile) c.1439G>T (p.Ser480Ile) | |
| X | g.129569381C>A | CA414616553 | OCRL | c.*1876C>A (n.*1876C>A) c.1701C>A c.1584C>A (p.Ser528Arg) c.1632C>A c.695C>A c.1235C>A c.1113C>A (p.Ser371Arg) c.1587C>A (p.Ser529Arg) c.1440C>A (p.Ser480Arg) | |
| X | g.129569381C= | CA2458101736 | OCRL | c.*1876C= (n.*1876C=) c.1701C= c.1584C= (p.Ser528=) c.1632C= c.695C= c.1235C= c.1113C= (p.Ser371=) c.1587C= (p.Ser529=) c.1440C= (p.Ser480=) | |
| X | g.129569381C>G | CA414616554 | OCRL | c.*1876C>G (n.*1876C>G) c.1701C>G c.1584C>G (p.Ser528Arg) c.1632C>G c.695C>G c.1235C>G c.1113C>G (p.Ser371Arg) c.1587C>G (p.Ser529Arg) c.1440C>G (p.Ser480Arg) | |
| X | g.129569381C>T | CA10512211 | OCRL | c.*1876C>T (n.*1876C>T) c.1701C>T c.1584C>T (p.Ser528=) c.1632C>T c.695C>T c.1235C>T c.1113C>T (p.Ser371=) c.1587C>T (p.Ser529=) c.1440C>T (p.Ser480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569382G>A | CA414616555 | OCRL | c.*1877G>A (n.*1877G>A) c.1702G>A c.1585G>A (p.Ala529Thr) c.1633G>A c.696G>A c.1236G>A c.1114G>A (p.Ala372Thr) c.1588G>A (p.Ala530Thr) c.1441G>A (p.Ala481Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.129569382G>C | CA414616556 | OCRL | c.*1877G>C (n.*1877G>C) c.1702G>C c.1585G>C (p.Ala529Pro) c.1633G>C c.696G>C c.1236G>C c.1114G>C (p.Ala372Pro) c.1588G>C (p.Ala530Pro) c.1441G>C (p.Ala481Pro) | |
| X | g.129569382G= | CA2458101737 | OCRL | c.*1877G= (n.*1877G=) c.1702G= c.1585G= (p.Ala529=) c.1633G= c.696G= c.1236G= c.1114G= (p.Ala372=) c.1588G= (p.Ala530=) c.1441G= (p.Ala481=) | |
| X | g.129569382G>T | CA414616557 | OCRL | c.*1877G>T (n.*1877G>T) c.1702G>T c.1585G>T (p.Ala529Ser) c.1633G>T c.696G>T c.1236G>T c.1114G>T (p.Ala372Ser) c.1588G>T (p.Ala530Ser) c.1441G>T (p.Ala481Ser) | ClinVar gnomAD v4 |
| X | g.129569383C>A | CA414616558 | OCRL | c.*1878C>A (n.*1878C>A) c.1703C>A c.1586C>A (p.Ala529Asp) c.1634C>A c.697C>A c.1237C>A c.1115C>A (p.Ala372Asp) c.1589C>A (p.Ala530Asp) c.1442C>A (p.Ala481Asp) | ClinVar |