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.53625220A= | CA2429901058 | HUWE1 | c.1528T= (p.Ser510=) n.1930T= n.259T= c.569T= c.1777T= (p.Ser593=) n.2212T= c.1909T= (p.Ser637=) c.1888T= (p.Ser630=) c.1798T= (p.Ser600=) c.1660T= (p.Ser554=) | |
| X | g.53625220A>C | CA413152019 | HUWE1 | c.1528T>G (p.Ser510Ala) n.1930T>G n.259T>G c.569T>G c.1777T>G (p.Ser593Ala) n.2212T>G c.1909T>G (p.Ser637Ala) c.1888T>G (p.Ser630Ala) c.1798T>G (p.Ser600Ala) c.1660T>G (p.Ser554Ala) | |
| X | g.53625220A>G | CA16608538 | HUWE1 | c.1528T>C (p.Ser510Pro) n.1930T>C n.259T>C c.569T>C c.1777T>C (p.Ser593Pro) n.2212T>C c.1909T>C (p.Ser637Pro) c.1888T>C (p.Ser630Pro) c.1798T>C (p.Ser600Pro) c.1660T>C (p.Ser554Pro) | ClinVar dbSNP |
| X | g.53625220A>T | CA413152021 | HUWE1 | c.1528T>A (p.Ser510Thr) n.1930T>A n.259T>A c.569T>A c.1777T>A (p.Ser593Thr) n.2212T>A c.1909T>A (p.Ser637Thr) c.1888T>A (p.Ser630Thr) c.1798T>A (p.Ser600Thr) c.1660T>A (p.Ser554Thr) | |
| X | g.53625221T>A | CA413152023 | HUWE1 | c.1527A>T (p.Lys509Asn) n.1929A>T n.258A>T c.568A>T c.1776A>T (p.Lys592Asn) n.2211A>T c.1908A>T (p.Lys636Asn) c.1887A>T (p.Lys629Asn) c.1797A>T (p.Lys599Asn) c.1659A>T (p.Lys553Asn) | |
| X | g.53625221T>C | CA516438413 | HUWE1 | c.1527A>G (p.Lys509=) n.1929A>G n.258A>G c.568A>G c.1776A>G (p.Lys592=) n.2211A>G c.1908A>G (p.Lys636=) c.1887A>G (p.Lys629=) c.1797A>G (p.Lys599=) c.1659A>G (p.Lys553=) | COSMIC COSMIC |
| X | g.53625221T>G | CA413152024 | HUWE1 | c.1527A>C (p.Lys509Asn) n.1929A>C n.258A>C c.568A>C c.1776A>C (p.Lys592Asn) n.2211A>C c.1908A>C (p.Lys636Asn) c.1887A>C (p.Lys629Asn) c.1797A>C (p.Lys599Asn) c.1659A>C (p.Lys553Asn) | |
| X | g.53625222T>A | CA413152026 | HUWE1 | c.1526A>T (p.Lys509Ile) n.1928A>T n.257A>T c.567A>T c.1775A>T (p.Lys592Ile) n.2210A>T c.1907A>T (p.Lys636Ile) c.1886A>T (p.Lys629Ile) c.1796A>T (p.Lys599Ile) c.1658A>T (p.Lys553Ile) | |
| X | g.53625222T>C | CA413152027 | HUWE1 | c.1526A>G (p.Lys509Arg) n.1928A>G n.257A>G c.567A>G c.1775A>G (p.Lys592Arg) n.2210A>G c.1907A>G (p.Lys636Arg) c.1886A>G (p.Lys629Arg) c.1796A>G (p.Lys599Arg) c.1658A>G (p.Lys553Arg) | |
| X | g.53625222T>G | CA413152029 | HUWE1 | c.1526A>C (p.Lys509Thr) n.1928A>C n.257A>C c.567A>C c.1775A>C (p.Lys592Thr) n.2210A>C c.1907A>C (p.Lys636Thr) c.1886A>C (p.Lys629Thr) c.1796A>C (p.Lys599Thr) c.1658A>C (p.Lys553Thr) | |
| X | g.53625223T>A | CA413152032 | HUWE1 | c.1525A>T (p.Lys509Ter) n.1927A>T n.256A>T c.566A>T c.1774A>T (p.Lys592Ter) n.2209A>T c.1906A>T (p.Lys636Ter) c.1885A>T (p.Lys629Ter) c.1795A>T (p.Lys599Ter) c.1657A>T (p.Lys553Ter) | |
| X | g.53625223T>C | CA413152034 | HUWE1 | c.1525A>G (p.Lys509Glu) n.1927A>G n.256A>G c.566A>G c.1774A>G (p.Lys592Glu) n.2209A>G c.1906A>G (p.Lys636Glu) c.1885A>G (p.Lys629Glu) c.1795A>G (p.Lys599Glu) c.1657A>G (p.Lys553Glu) | |
| X | g.53625223T>G | CA413152031 | HUWE1 | c.1525A>C (p.Lys509Gln) n.1927A>C n.256A>C c.566A>C c.1774A>C (p.Lys592Gln) n.2209A>C c.1906A>C (p.Lys636Gln) c.1885A>C (p.Lys629Gln) c.1795A>C (p.Lys599Gln) c.1657A>C (p.Lys553Gln) | |
| X | g.53625224C>A | CA516438417 | HUWE1 | c.1524G>T (p.Leu508=) n.1926G>T n.255G>T c.565G>T c.1773G>T (p.Leu591=) n.2208G>T c.1905G>T (p.Leu635=) c.1884G>T (p.Leu628=) c.1794G>T (p.Leu598=) c.1656G>T (p.Leu552=) | |
| X | g.53625224C>G | CA516438416 | HUWE1 | c.1524G>C (p.Leu508=) n.1926G>C n.255G>C c.565G>C c.1773G>C (p.Leu591=) n.2208G>C c.1905G>C (p.Leu635=) c.1884G>C (p.Leu628=) c.1794G>C (p.Leu598=) c.1656G>C (p.Leu552=) | |
| X | g.53625224C>T | CA516438415 | HUWE1 | c.1524G>A (p.Leu508=) n.1926G>A n.255G>A c.565G>A c.1773G>A (p.Leu591=) n.2208G>A c.1905G>A (p.Leu635=) c.1884G>A (p.Leu628=) c.1794G>A (p.Leu598=) c.1656G>A (p.Leu552=) | dbSNP |
| X | g.53625225A>C | CA413152038 | HUWE1 | c.1523T>G (p.Leu508Arg) n.1925T>G n.254T>G c.564T>G c.1772T>G (p.Leu591Arg) n.2207T>G c.1904T>G (p.Leu635Arg) c.1883T>G (p.Leu628Arg) c.1793T>G (p.Leu598Arg) c.1655T>G (p.Leu552Arg) | |
| X | g.53625225A>G | CA413152036 | HUWE1 | c.1523T>C (p.Leu508Pro) n.1925T>C n.254T>C c.564T>C c.1772T>C (p.Leu591Pro) n.2207T>C c.1904T>C (p.Leu635Pro) c.1883T>C (p.Leu628Pro) c.1793T>C (p.Leu598Pro) c.1655T>C (p.Leu552Pro) | |
| X | g.53625225A>T | CA413152039 | HUWE1 | c.1523T>A (p.Leu508Gln) n.1925T>A n.254T>A c.564T>A c.1772T>A (p.Leu591Gln) n.2207T>A c.1904T>A (p.Leu635Gln) c.1883T>A (p.Leu628Gln) c.1793T>A (p.Leu598Gln) c.1655T>A (p.Leu552Gln) | |
| X | g.53625226G>A | CA516438419 | HUWE1 | c.1522C>T (p.Leu508=) n.1924C>T n.253C>T c.563C>T c.1771C>T (p.Leu591=) n.2206C>T c.1903C>T (p.Leu635=) c.1882C>T (p.Leu628=) c.1792C>T (p.Leu598=) c.1654C>T (p.Leu552=) | |
| X | g.53625226G>C | CA413152041 | HUWE1 | c.1522C>G (p.Leu508Val) n.1924C>G n.253C>G c.563C>G c.1771C>G (p.Leu591Val) n.2206C>G c.1903C>G (p.Leu635Val) c.1882C>G (p.Leu628Val) c.1792C>G (p.Leu598Val) c.1654C>G (p.Leu552Val) | ClinVar |
| X | g.53625226G>T | CA413152044 | HUWE1 | c.1522C>A (p.Leu508Met) n.1924C>A n.253C>A c.563C>A c.1771C>A (p.Leu591Met) n.2206C>A c.1903C>A (p.Leu635Met) c.1882C>A (p.Leu628Met) c.1792C>A (p.Leu598Met) c.1654C>A (p.Leu552Met) | |
| X | g.53625227A>C | CA516438420 | HUWE1 | c.1521T>G (p.Leu507=) n.1923T>G n.252T>G c.562T>G c.1770T>G (p.Leu590=) n.2205T>G c.1902T>G (p.Leu634=) c.1881T>G (p.Leu627=) c.1791T>G (p.Leu597=) c.1653T>G (p.Leu551=) | |
| X | g.53625227A>G | CA516438423 | HUWE1 | c.1521T>C (p.Leu507=) n.1923T>C n.252T>C c.562T>C c.1770T>C (p.Leu590=) n.2205T>C c.1902T>C (p.Leu634=) c.1881T>C (p.Leu627=) c.1791T>C (p.Leu597=) c.1653T>C (p.Leu551=) | |
| X | g.53625227A>T | CA516438421 | HUWE1 | c.1521T>A (p.Leu507=) n.1923T>A n.252T>A c.562T>A c.1770T>A (p.Leu590=) n.2205T>A c.1902T>A (p.Leu634=) c.1881T>A (p.Leu627=) c.1791T>A (p.Leu597=) c.1653T>A (p.Leu551=) | |
| X | g.53625228A>C | CA413152047 | HUWE1 | c.1520T>G (p.Leu507Arg) n.1922T>G n.251T>G c.561T>G c.1769T>G (p.Leu590Arg) n.2204T>G c.1901T>G (p.Leu634Arg) c.1880T>G (p.Leu627Arg) c.1790T>G (p.Leu597Arg) c.1652T>G (p.Leu551Arg) | |
| X | g.53625228A>G | CA413152049 | HUWE1 | c.1520T>C (p.Leu507Pro) n.1922T>C n.251T>C c.561T>C c.1769T>C (p.Leu590Pro) n.2204T>C c.1901T>C (p.Leu634Pro) c.1880T>C (p.Leu627Pro) c.1790T>C (p.Leu597Pro) c.1652T>C (p.Leu551Pro) | |
| X | g.53625228A>T | CA413152051 | HUWE1 | c.1520T>A (p.Leu507His) n.1922T>A n.251T>A c.561T>A c.1769T>A (p.Leu590His) n.2204T>A c.1901T>A (p.Leu634His) c.1880T>A (p.Leu627His) c.1790T>A (p.Leu597His) c.1652T>A (p.Leu551His) | |
| X | g.53625229G>A | CA413152055 | HUWE1 | c.1519C>T (p.Leu507Phe) n.1921C>T n.250C>T c.560C>T c.1768C>T (p.Leu590Phe) n.2203C>T c.1900C>T (p.Leu634Phe) c.1879C>T (p.Leu627Phe) c.1789C>T (p.Leu597Phe) c.1651C>T (p.Leu551Phe) | |
| X | g.53625229G>C | CA413152053 | HUWE1 | c.1519C>G (p.Leu507Val) n.1921C>G n.250C>G c.560C>G c.1768C>G (p.Leu590Val) n.2203C>G c.1900C>G (p.Leu634Val) c.1879C>G (p.Leu627Val) c.1789C>G (p.Leu597Val) c.1651C>G (p.Leu551Val) | |
| X | g.53625229G>T | CA413152052 | HUWE1 | c.1519C>A (p.Leu507Ile) n.1921C>A n.250C>A c.560C>A c.1768C>A (p.Leu590Ile) n.2203C>A c.1900C>A (p.Leu634Ile) c.1879C>A (p.Leu627Ile) c.1789C>A (p.Leu597Ile) c.1651C>A (p.Leu551Ile) | gnomAD v4 |
| X | g.53625230T>A | CA516438424 | HUWE1 | c.1518A>T (p.Ala506=) n.1920A>T n.249A>T c.559A>T c.1767A>T (p.Ala589=) n.2202A>T c.1899A>T (p.Ala633=) c.1878A>T (p.Ala626=) c.1788A>T (p.Ala596=) c.1650A>T (p.Ala550=) | gnomAD v4 |
| X | g.53625230T>C | CA516438425 | HUWE1 | c.1518A>G (p.Ala506=) n.1920A>G n.249A>G c.559A>G c.1767A>G (p.Ala589=) n.2202A>G c.1899A>G (p.Ala633=) c.1878A>G (p.Ala626=) c.1788A>G (p.Ala596=) c.1650A>G (p.Ala550=) | gnomAD v4 |
| X | g.53625230T>G | CA516438426 | HUWE1 | c.1518A>C (p.Ala506=) n.1920A>C n.249A>C c.559A>C c.1767A>C (p.Ala589=) n.2202A>C c.1899A>C (p.Ala633=) c.1878A>C (p.Ala626=) c.1788A>C (p.Ala596=) c.1650A>C (p.Ala550=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53625230T= | CA2429901059 | HUWE1 | c.1518A= (p.Ala506=) n.1920A= n.249A= c.559A= c.1767A= (p.Ala589=) n.2202A= c.1899A= (p.Ala633=) c.1878A= (p.Ala626=) c.1788A= (p.Ala596=) c.1650A= (p.Ala550=) | |
| X | g.53625231G>A | CA413152057 | HUWE1 | c.1517C>T (p.Ala506Val) n.1919C>T n.248C>T c.558C>T c.1766C>T (p.Ala589Val) n.2201C>T c.1898C>T (p.Ala633Val) c.1877C>T (p.Ala626Val) c.1787C>T (p.Ala596Val) c.1649C>T (p.Ala550Val) | |
| X | g.53625231G>C | CA413152059 | HUWE1 | c.1517C>G (p.Ala506Gly) n.1919C>G n.248C>G c.558C>G c.1766C>G (p.Ala589Gly) n.2201C>G c.1898C>G (p.Ala633Gly) c.1877C>G (p.Ala626Gly) c.1787C>G (p.Ala596Gly) c.1649C>G (p.Ala550Gly) | COSMIC COSMIC |
| X | g.53625231G>T | CA413152060 | HUWE1 | c.1517C>A (p.Ala506Glu) n.1919C>A n.248C>A c.558C>A c.1766C>A (p.Ala589Glu) n.2201C>A c.1898C>A (p.Ala633Glu) c.1877C>A (p.Ala626Glu) c.1787C>A (p.Ala596Glu) c.1649C>A (p.Ala550Glu) | gnomAD v4 |
| X | g.53625232C>A | CA10422833 | HUWE1 | c.1516G>T (p.Ala506Ser) n.1918G>T n.247G>T c.557G>T c.1765G>T (p.Ala589Ser) n.2200G>T c.1897G>T (p.Ala633Ser) c.1876G>T (p.Ala626Ser) c.1786G>T (p.Ala596Ser) c.1648G>T (p.Ala550Ser) | dbSNP ExAC |
| X | g.53625232C= | CA2429901060 | HUWE1 | c.1516G= (p.Ala506=) n.1918G= n.247G= c.557G= c.1765G= (p.Ala589=) n.2200G= c.1897G= (p.Ala633=) c.1876G= (p.Ala626=) c.1786G= (p.Ala596=) c.1648G= (p.Ala550=) | |
| X | g.53625232C>G | CA413152061 | HUWE1 | c.1516G>C (p.Ala506Pro) n.1918G>C n.247G>C c.557G>C c.1765G>C (p.Ala589Pro) n.2200G>C c.1897G>C (p.Ala633Pro) c.1876G>C (p.Ala626Pro) c.1786G>C (p.Ala596Pro) c.1648G>C (p.Ala550Pro) | |
| X | g.53625232C>T | CA413152062 | HUWE1 | c.1516G>A (p.Ala506Thr) n.1918G>A n.247G>A c.557G>A c.1765G>A (p.Ala589Thr) n.2200G>A c.1897G>A (p.Ala633Thr) c.1876G>A (p.Ala626Thr) c.1786G>A (p.Ala596Thr) c.1648G>A (p.Ala550Thr) | gnomAD v4 |
| X | g.53625233T>A | CA516438428 | HUWE1 | c.1515A>T (p.Ala505=) n.1917A>T n.246A>T c.556A>T c.1764A>T (p.Ala588=) n.2199A>T c.1896A>T (p.Ala632=) c.1875A>T (p.Ala625=) c.1785A>T (p.Ala595=) c.1647A>T (p.Ala549=) | |
| X | g.53625233T>C | CA516438430 | HUWE1 | c.1515A>G (p.Ala505=) n.1917A>G n.246A>G c.556A>G c.1764A>G (p.Ala588=) n.2199A>G c.1896A>G (p.Ala632=) c.1875A>G (p.Ala625=) c.1785A>G (p.Ala595=) c.1647A>G (p.Ala549=) | |
| X | g.53625233T>G | CA516438432 | HUWE1 | c.1515A>C (p.Ala505=) n.1917A>C n.246A>C c.556A>C c.1764A>C (p.Ala588=) n.2199A>C c.1896A>C (p.Ala632=) c.1875A>C (p.Ala625=) c.1785A>C (p.Ala595=) c.1647A>C (p.Ala549=) | |
| X | g.53625234G>A | CA413152065 | HUWE1 | c.1514C>T (p.Ala505Val) n.1916C>T n.245C>T c.555C>T c.1763C>T (p.Ala588Val) n.2198C>T c.1895C>T (p.Ala632Val) c.1874C>T (p.Ala625Val) c.1784C>T (p.Ala595Val) c.1646C>T (p.Ala549Val) | |
| X | g.53625234G>C | CA413152068 | HUWE1 | c.1514C>G (p.Ala505Gly) n.1916C>G n.245C>G c.555C>G c.1763C>G (p.Ala588Gly) n.2198C>G c.1895C>G (p.Ala632Gly) c.1874C>G (p.Ala625Gly) c.1784C>G (p.Ala595Gly) c.1646C>G (p.Ala549Gly) | |
| X | g.53625234G>T | CA413152066 | HUWE1 | c.1514C>A (p.Ala505Glu) n.1916C>A n.245C>A c.555C>A c.1763C>A (p.Ala588Glu) n.2198C>A c.1895C>A (p.Ala632Glu) c.1874C>A (p.Ala625Glu) c.1784C>A (p.Ala595Glu) c.1646C>A (p.Ala549Glu) | gnomAD v4 |
| X | g.53625235C>A | CA413152069 | HUWE1 | c.1513G>T (p.Ala505Ser) n.1915G>T n.244G>T c.554G>T c.1762G>T (p.Ala588Ser) n.2197G>T c.1894G>T (p.Ala632Ser) c.1873G>T (p.Ala625Ser) c.1783G>T (p.Ala595Ser) c.1645G>T (p.Ala549Ser) | |
| X | g.53625235C>G | CA413152071 | HUWE1 | c.1513G>C (p.Ala505Pro) n.1915G>C n.244G>C c.554G>C c.1762G>C (p.Ala588Pro) n.2197G>C c.1894G>C (p.Ala632Pro) c.1873G>C (p.Ala625Pro) c.1783G>C (p.Ala595Pro) c.1645G>C (p.Ala549Pro) | gnomAD v4 |