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 |
|---|---|---|---|---|---|
| 15 | g.50242317T>A | CA392376751 | HDC | c.1932A>T (p.Glu644Asp) c.1833A>T (p.Glu611Asp) n.1676A>T c.1695A>T (p.Glu565Asp) c.1500A>T (p.Glu500Asp) c.2037A>T (p.Glu679Asp) c.1938A>T (p.Glu646Asp) c.1809A>T (p.Glu603Asp) c.1800A>T (p.Glu600Asp) c.1605A>T (p.Glu535Asp) | |
| 15 | g.50242317T>C | CA490313887 | HDC | c.1932A>G (p.Glu644=) c.1833A>G (p.Glu611=) n.1676A>G c.1695A>G (p.Glu565=) c.1500A>G (p.Glu500=) c.2037A>G (p.Glu679=) c.1938A>G (p.Glu646=) c.1809A>G (p.Glu603=) c.1800A>G (p.Glu600=) c.1605A>G (p.Glu535=) | |
| 15 | g.50242317T>G | CA7554471 | HDC | c.1932A>C (p.Glu644Asp) c.1833A>C (p.Glu611Asp) n.1676A>C c.1695A>C (p.Glu565Asp) c.1500A>C (p.Glu500Asp) c.2037A>C (p.Glu679Asp) c.1938A>C (p.Glu646Asp) c.1809A>C (p.Glu603Asp) c.1800A>C (p.Glu600Asp) c.1605A>C (p.Glu535Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242317T= | CA2176326548 | HDC | c.1932A= (p.Glu644=) c.1833A= (p.Glu611=) n.1676A= c.1695A= (p.Glu565=) c.1500A= (p.Glu500=) c.2037A= (p.Glu679=) c.1938A= (p.Glu646=) c.1809A= (p.Glu603=) c.1800A= (p.Glu600=) c.1605A= (p.Glu535=) | |
| 15 | g.50242318T>A | CA392376752 | HDC | c.1931A>T (p.Glu644Val) c.1832A>T (p.Glu611Val) n.1675A>T c.1694A>T (p.Glu565Val) c.1499A>T (p.Glu500Val) c.2036A>T (p.Glu679Val) c.1937A>T (p.Glu646Val) c.1808A>T (p.Glu603Val) c.1799A>T (p.Glu600Val) c.1604A>T (p.Glu535Val) | |
| 15 | g.50242318T>C | CA392376754 | HDC | c.1931A>G (p.Glu644Gly) c.1832A>G (p.Glu611Gly) n.1675A>G c.1694A>G (p.Glu565Gly) c.1499A>G (p.Glu500Gly) c.2036A>G (p.Glu679Gly) c.1937A>G (p.Glu646Gly) c.1808A>G (p.Glu603Gly) c.1799A>G (p.Glu600Gly) c.1604A>G (p.Glu535Gly) | |
| 15 | g.50242318T>G | CA392376753 | HDC | c.1931A>C (p.Glu644Ala) c.1832A>C (p.Glu611Ala) n.1675A>C c.1694A>C (p.Glu565Ala) c.1499A>C (p.Glu500Ala) c.2036A>C (p.Glu679Ala) c.1937A>C (p.Glu646Ala) c.1808A>C (p.Glu603Ala) c.1799A>C (p.Glu600Ala) c.1604A>C (p.Glu535Ala) | |
| 15 | g.50242319C>A | CA392376755 | HDC | c.1930G>T (p.Glu644Ter) c.1831G>T (p.Glu611Ter) n.1674G>T c.1693G>T (p.Glu565Ter) c.1498G>T (p.Glu500Ter) c.2035G>T (p.Glu679Ter) c.1936G>T (p.Glu646Ter) c.1807G>T (p.Glu603Ter) c.1798G>T (p.Glu600Ter) c.1603G>T (p.Glu535Ter) | |
| 15 | g.50242319C>G | CA392376756 | HDC | c.1930G>C (p.Glu644Gln) c.1831G>C (p.Glu611Gln) n.1674G>C c.1693G>C (p.Glu565Gln) c.1498G>C (p.Glu500Gln) c.2035G>C (p.Glu679Gln) c.1936G>C (p.Glu646Gln) c.1807G>C (p.Glu603Gln) c.1798G>C (p.Glu600Gln) c.1603G>C (p.Glu535Gln) | |
| 15 | g.50242319C>T | CA392376757 | HDC | c.1930G>A (p.Glu644Lys) c.1831G>A (p.Glu611Lys) n.1674G>A c.1693G>A (p.Glu565Lys) c.1498G>A (p.Glu500Lys) c.2035G>A (p.Glu679Lys) c.1936G>A (p.Glu646Lys) c.1807G>A (p.Glu603Lys) c.1798G>A (p.Glu600Lys) c.1603G>A (p.Glu535Lys) | |
| 15 | g.50242320A= | CA2176326549 | HDC | c.1929T= (p.Pro643=) c.1830T= (p.Pro610=) n.1673T= c.1692T= (p.Pro564=) c.1497T= (p.Pro499=) c.2034T= (p.Pro678=) c.1935T= (p.Pro645=) c.1806T= (p.Pro602=) c.1797T= (p.Pro599=) c.1602T= (p.Pro534=) | |
| 15 | g.50242320A>C | CA490313891 | HDC | c.1929T>G (p.Pro643=) c.1830T>G (p.Pro610=) n.1673T>G c.1692T>G (p.Pro564=) c.1497T>G (p.Pro499=) c.2034T>G (p.Pro678=) c.1935T>G (p.Pro645=) c.1806T>G (p.Pro602=) c.1797T>G (p.Pro599=) c.1602T>G (p.Pro534=) | |
| 15 | g.50242320A>G | CA7554472 | HDC | c.1929T>C (p.Pro643=) c.1830T>C (p.Pro610=) n.1673T>C c.1692T>C (p.Pro564=) c.1497T>C (p.Pro499=) c.2034T>C (p.Pro678=) c.1935T>C (p.Pro645=) c.1806T>C (p.Pro602=) c.1797T>C (p.Pro599=) c.1602T>C (p.Pro534=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242320A>T | CA490313894 | HDC | c.1929T>A (p.Pro643=) c.1830T>A (p.Pro610=) n.1673T>A c.1692T>A (p.Pro564=) c.1497T>A (p.Pro499=) c.2034T>A (p.Pro678=) c.1935T>A (p.Pro645=) c.1806T>A (p.Pro602=) c.1797T>A (p.Pro599=) c.1602T>A (p.Pro534=) | |
| 15 | g.50242321G>A | CA392376758 | HDC | c.1928C>T (p.Pro643Leu) c.1829C>T (p.Pro610Leu) n.1672C>T c.1691C>T (p.Pro564Leu) c.1496C>T (p.Pro499Leu) c.2033C>T (p.Pro678Leu) c.1934C>T (p.Pro645Leu) c.1805C>T (p.Pro602Leu) c.1796C>T (p.Pro599Leu) c.1601C>T (p.Pro534Leu) | |
| 15 | g.50242321G>C | CA392376759 | HDC | c.1928C>G (p.Pro643Arg) c.1829C>G (p.Pro610Arg) n.1672C>G c.1691C>G (p.Pro564Arg) c.1496C>G (p.Pro499Arg) c.2033C>G (p.Pro678Arg) c.1934C>G (p.Pro645Arg) c.1805C>G (p.Pro602Arg) c.1796C>G (p.Pro599Arg) c.1601C>G (p.Pro534Arg) | |
| 15 | g.50242321G>T | CA392376760 | HDC | c.1928C>A (p.Pro643His) c.1829C>A (p.Pro610His) n.1672C>A c.1691C>A (p.Pro564His) c.1496C>A (p.Pro499His) c.2033C>A (p.Pro678His) c.1934C>A (p.Pro645His) c.1805C>A (p.Pro602His) c.1796C>A (p.Pro599His) c.1601C>A (p.Pro534His) | |
| 15 | g.50242322G>A | CA392376761 | HDC | c.1927C>T (p.Pro643Ser) c.1828C>T (p.Pro610Ser) n.1671C>T c.1690C>T (p.Pro564Ser) c.1495C>T (p.Pro499Ser) c.2032C>T (p.Pro678Ser) c.1933C>T (p.Pro645Ser) c.1804C>T (p.Pro602Ser) c.1795C>T (p.Pro599Ser) c.1600C>T (p.Pro534Ser) | gnomAD v4 COSMIC |
| 15 | g.50242322G>C | CA392376762 | HDC | c.1927C>G (p.Pro643Ala) c.1828C>G (p.Pro610Ala) n.1671C>G c.1690C>G (p.Pro564Ala) c.1495C>G (p.Pro499Ala) c.2032C>G (p.Pro678Ala) c.1933C>G (p.Pro645Ala) c.1804C>G (p.Pro602Ala) c.1795C>G (p.Pro599Ala) c.1600C>G (p.Pro534Ala) | |
| 15 | g.50242322G>T | CA392376763 | HDC | c.1927C>A (p.Pro643Thr) c.1828C>A (p.Pro610Thr) n.1671C>A c.1690C>A (p.Pro564Thr) c.1495C>A (p.Pro499Thr) c.2032C>A (p.Pro678Thr) c.1933C>A (p.Pro645Thr) c.1804C>A (p.Pro602Thr) c.1795C>A (p.Pro599Thr) c.1600C>A (p.Pro534Thr) | |
| 15 | g.50242323A>C | CA392376764 | HDC | c.1926T>G (p.Phe642Leu) c.1827T>G (p.Phe609Leu) n.1670T>G c.1689T>G (p.Phe563Leu) c.1494T>G (p.Phe498Leu) c.2031T>G (p.Phe677Leu) c.1932T>G (p.Phe644Leu) c.1803T>G (p.Phe601Leu) c.1794T>G (p.Phe598Leu) c.1599T>G (p.Phe533Leu) | |
| 15 | g.50242323A>G | CA490313895 | HDC | c.1926T>C (p.Phe642=) c.1827T>C (p.Phe609=) n.1670T>C c.1689T>C (p.Phe563=) c.1494T>C (p.Phe498=) c.2031T>C (p.Phe677=) c.1932T>C (p.Phe644=) c.1803T>C (p.Phe601=) c.1794T>C (p.Phe598=) c.1599T>C (p.Phe533=) | |
| 15 | g.50242323A>T | CA392376765 | HDC | c.1926T>A (p.Phe642Leu) c.1827T>A (p.Phe609Leu) n.1670T>A c.1689T>A (p.Phe563Leu) c.1494T>A (p.Phe498Leu) c.2031T>A (p.Phe677Leu) c.1932T>A (p.Phe644Leu) c.1803T>A (p.Phe601Leu) c.1794T>A (p.Phe598Leu) c.1599T>A (p.Phe533Leu) | |
| 15 | g.50242324A>C | CA392376766 | HDC | c.1925T>G (p.Phe642Cys) c.1826T>G (p.Phe609Cys) n.1669T>G c.1688T>G (p.Phe563Cys) c.1493T>G (p.Phe498Cys) c.2030T>G (p.Phe677Cys) c.1931T>G (p.Phe644Cys) c.1802T>G (p.Phe601Cys) c.1793T>G (p.Phe598Cys) c.1598T>G (p.Phe533Cys) | |
| 15 | g.50242324A>G | CA392376768 | HDC | c.1925T>C (p.Phe642Ser) c.1826T>C (p.Phe609Ser) n.1669T>C c.1688T>C (p.Phe563Ser) c.1493T>C (p.Phe498Ser) c.2030T>C (p.Phe677Ser) c.1931T>C (p.Phe644Ser) c.1802T>C (p.Phe601Ser) c.1793T>C (p.Phe598Ser) c.1598T>C (p.Phe533Ser) | |
| 15 | g.50242324A>T | CA392376767 | HDC | c.1925T>A (p.Phe642Tyr) c.1826T>A (p.Phe609Tyr) n.1669T>A c.1688T>A (p.Phe563Tyr) c.1493T>A (p.Phe498Tyr) c.2030T>A (p.Phe677Tyr) c.1931T>A (p.Phe644Tyr) c.1802T>A (p.Phe601Tyr) c.1793T>A (p.Phe598Tyr) c.1598T>A (p.Phe533Tyr) | |
| 15 | g.50242325A>C | CA392376769 | HDC | c.1924T>G (p.Phe642Val) c.1825T>G (p.Phe609Val) n.1668T>G c.1687T>G (p.Phe563Val) c.1492T>G (p.Phe498Val) c.2029T>G (p.Phe677Val) c.1930T>G (p.Phe644Val) c.1801T>G (p.Phe601Val) c.1792T>G (p.Phe598Val) c.1597T>G (p.Phe533Val) | |
| 15 | g.50242325A>G | CA392376770 | HDC | c.1924T>C (p.Phe642Leu) c.1825T>C (p.Phe609Leu) n.1668T>C c.1687T>C (p.Phe563Leu) c.1492T>C (p.Phe498Leu) c.2029T>C (p.Phe677Leu) c.1930T>C (p.Phe644Leu) c.1801T>C (p.Phe601Leu) c.1792T>C (p.Phe598Leu) c.1597T>C (p.Phe533Leu) | |
| 15 | g.50242325A>T | CA392376771 | HDC | c.1924T>A (p.Phe642Ile) c.1825T>A (p.Phe609Ile) n.1668T>A c.1687T>A (p.Phe563Ile) c.1492T>A (p.Phe498Ile) c.2029T>A (p.Phe677Ile) c.1930T>A (p.Phe644Ile) c.1801T>A (p.Phe601Ile) c.1792T>A (p.Phe598Ile) c.1597T>A (p.Phe533Ile) | |
| 15 | g.50242326G>A | CA7554473 | HDC | c.1923C>T (p.Ser641=) c.1824C>T (p.Ser608=) n.1667C>T c.1686C>T (p.Ser562=) c.1491C>T (p.Ser497=) c.2028C>T (p.Ser676=) c.1929C>T (p.Ser643=) c.1800C>T (p.Ser600=) c.1791C>T (p.Ser597=) c.1596C>T (p.Ser532=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242326G>C | CA392376772 | HDC | c.1923C>G (p.Ser641Arg) c.1824C>G (p.Ser608Arg) n.1667C>G c.1686C>G (p.Ser562Arg) c.1491C>G (p.Ser497Arg) c.2028C>G (p.Ser676Arg) c.1929C>G (p.Ser643Arg) c.1800C>G (p.Ser600Arg) c.1791C>G (p.Ser597Arg) c.1596C>G (p.Ser532Arg) | |
| 15 | g.50242326G= | CA2176326550 | HDC | c.1923C= (p.Ser641=) c.1824C= (p.Ser608=) n.1667C= c.1686C= (p.Ser562=) c.1491C= (p.Ser497=) c.2028C= (p.Ser676=) c.1929C= (p.Ser643=) c.1800C= (p.Ser600=) c.1791C= (p.Ser597=) c.1596C= (p.Ser532=) | |
| 15 | g.50242326G>T | CA392376773 | HDC | c.1923C>A (p.Ser641Arg) c.1824C>A (p.Ser608Arg) n.1667C>A c.1686C>A (p.Ser562Arg) c.1491C>A (p.Ser497Arg) c.2028C>A (p.Ser676Arg) c.1929C>A (p.Ser643Arg) c.1800C>A (p.Ser600Arg) c.1791C>A (p.Ser597Arg) c.1596C>A (p.Ser532Arg) | gnomAD v4 |
| 15 | g.50242327C>A | CA392376774 | HDC | c.1922G>T (p.Ser641Ile) c.1823G>T (p.Ser608Ile) n.1666G>T c.1685G>T (p.Ser562Ile) c.1490G>T (p.Ser497Ile) c.2027G>T (p.Ser676Ile) c.1928G>T (p.Ser643Ile) c.1799G>T (p.Ser600Ile) c.1790G>T (p.Ser597Ile) c.1595G>T (p.Ser532Ile) | |
| 15 | g.50242327C>G | CA392376775 | HDC | c.1922G>C (p.Ser641Thr) c.1823G>C (p.Ser608Thr) n.1666G>C c.1685G>C (p.Ser562Thr) c.1490G>C (p.Ser497Thr) c.2027G>C (p.Ser676Thr) c.1928G>C (p.Ser643Thr) c.1799G>C (p.Ser600Thr) c.1790G>C (p.Ser597Thr) c.1595G>C (p.Ser532Thr) | |
| 15 | g.50242327C>T | CA392376776 | HDC | c.1922G>A (p.Ser641Asn) c.1823G>A (p.Ser608Asn) n.1666G>A c.1685G>A (p.Ser562Asn) c.1490G>A (p.Ser497Asn) c.2027G>A (p.Ser676Asn) c.1928G>A (p.Ser643Asn) c.1799G>A (p.Ser600Asn) c.1790G>A (p.Ser597Asn) c.1595G>A (p.Ser532Asn) | |
| 15 | g.50242328T>A | CA392376778 | HDC | c.1921A>T (p.Ser641Cys) c.1822A>T (p.Ser608Cys) n.1665A>T c.1684A>T (p.Ser562Cys) c.1489A>T (p.Ser497Cys) c.2026A>T (p.Ser676Cys) c.1927A>T (p.Ser643Cys) c.1798A>T (p.Ser600Cys) c.1789A>T (p.Ser597Cys) c.1594A>T (p.Ser532Cys) | |
| 15 | g.50242328T>C | CA392376779 | HDC | c.1921A>G (p.Ser641Gly) c.1822A>G (p.Ser608Gly) n.1665A>G c.1684A>G (p.Ser562Gly) c.1489A>G (p.Ser497Gly) c.2026A>G (p.Ser676Gly) c.1927A>G (p.Ser643Gly) c.1798A>G (p.Ser600Gly) c.1789A>G (p.Ser597Gly) c.1594A>G (p.Ser532Gly) | |
| 15 | g.50242328T>G | CA392376777 | HDC | c.1921A>C (p.Ser641Arg) c.1822A>C (p.Ser608Arg) n.1665A>C c.1684A>C (p.Ser562Arg) c.1489A>C (p.Ser497Arg) c.2026A>C (p.Ser676Arg) c.1927A>C (p.Ser643Arg) c.1798A>C (p.Ser600Arg) c.1789A>C (p.Ser597Arg) c.1594A>C (p.Ser532Arg) | |
| 15 | g.50242329G>A | CA490313906 | HDC | c.1920C>T (p.Pro640=) c.1821C>T (p.Pro607=) n.1664C>T c.1683C>T (p.Pro561=) c.1488C>T (p.Pro496=) c.2025C>T (p.Pro675=) c.1926C>T (p.Pro642=) c.1797C>T (p.Pro599=) c.1788C>T (p.Pro596=) c.1593C>T (p.Pro531=) | |
| 15 | g.50242329G>C | CA490313907 | HDC | c.1920C>G (p.Pro640=) c.1821C>G (p.Pro607=) n.1664C>G c.1683C>G (p.Pro561=) c.1488C>G (p.Pro496=) c.2025C>G (p.Pro675=) c.1926C>G (p.Pro642=) c.1797C>G (p.Pro599=) c.1788C>G (p.Pro596=) c.1593C>G (p.Pro531=) | |
| 15 | g.50242329G>T | CA490313908 | HDC | c.1920C>A (p.Pro640=) c.1821C>A (p.Pro607=) n.1664C>A c.1683C>A (p.Pro561=) c.1488C>A (p.Pro496=) c.2025C>A (p.Pro675=) c.1926C>A (p.Pro642=) c.1797C>A (p.Pro599=) c.1788C>A (p.Pro596=) c.1593C>A (p.Pro531=) | |
| 15 | g.50242330G>A | CA7554474 | HDC | c.1919C>T (p.Pro640Leu) c.1820C>T (p.Pro607Leu) n.1663C>T c.1682C>T (p.Pro561Leu) c.1487C>T (p.Pro496Leu) c.2024C>T (p.Pro675Leu) c.1925C>T (p.Pro642Leu) c.1796C>T (p.Pro599Leu) c.1787C>T (p.Pro596Leu) c.1592C>T (p.Pro531Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242330G>C | CA392376780 | HDC | c.1919C>G (p.Pro640Arg) c.1820C>G (p.Pro607Arg) n.1663C>G c.1682C>G (p.Pro561Arg) c.1487C>G (p.Pro496Arg) c.2024C>G (p.Pro675Arg) c.1925C>G (p.Pro642Arg) c.1796C>G (p.Pro599Arg) c.1787C>G (p.Pro596Arg) c.1592C>G (p.Pro531Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242330G= | CA2176326551 | HDC | c.1919C= (p.Pro640=) c.1820C= (p.Pro607=) n.1663C= c.1682C= (p.Pro561=) c.1487C= (p.Pro496=) c.2024C= (p.Pro675=) c.1925C= (p.Pro642=) c.1796C= (p.Pro599=) c.1787C= (p.Pro596=) c.1592C= (p.Pro531=) | |
| 15 | g.50242330G>T | CA392376781 | HDC | c.1919C>A (p.Pro640His) c.1820C>A (p.Pro607His) n.1663C>A c.1682C>A (p.Pro561His) c.1487C>A (p.Pro496His) c.2024C>A (p.Pro675His) c.1925C>A (p.Pro642His) c.1796C>A (p.Pro599His) c.1787C>A (p.Pro596His) c.1592C>A (p.Pro531His) | |
| 15 | g.50242331G>A | CA392376782 | HDC | c.1918C>T (p.Pro640Ser) c.1819C>T (p.Pro607Ser) n.1662C>T c.1681C>T (p.Pro561Ser) c.1486C>T (p.Pro496Ser) c.2023C>T (p.Pro675Ser) c.1924C>T (p.Pro642Ser) c.1795C>T (p.Pro599Ser) c.1786C>T (p.Pro596Ser) c.1591C>T (p.Pro531Ser) | |
| 15 | g.50242331G>C | CA392376783 | HDC | c.1918C>G (p.Pro640Ala) c.1819C>G (p.Pro607Ala) n.1662C>G c.1681C>G (p.Pro561Ala) c.1486C>G (p.Pro496Ala) c.2023C>G (p.Pro675Ala) c.1924C>G (p.Pro642Ala) c.1795C>G (p.Pro599Ala) c.1786C>G (p.Pro596Ala) c.1591C>G (p.Pro531Ala) | |
| 15 | g.50242331G>T | CA392376784 | HDC | c.1918C>A (p.Pro640Thr) c.1819C>A (p.Pro607Thr) n.1662C>A c.1681C>A (p.Pro561Thr) c.1486C>A (p.Pro496Thr) c.2023C>A (p.Pro675Thr) c.1924C>A (p.Pro642Thr) c.1795C>A (p.Pro599Thr) c.1786C>A (p.Pro596Thr) c.1591C>A (p.Pro531Thr) | |
| 15 | g.50242332G>A | CA490313909 | HDC | c.1917C>T (p.Val639=) c.1818C>T (p.Val606=) n.1661C>T c.1680C>T (p.Val560=) c.1485C>T (p.Val495=) c.2022C>T (p.Val674=) c.1923C>T (p.Val641=) c.1794C>T (p.Val598=) c.1785C>T (p.Val595=) c.1590C>T (p.Val530=) |