| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.50242297A= | CA2176326533 | HDC | c.1952T= (p.Leu651=) c.1853T= (p.Leu618=) n.1696T= c.1715T= (p.Leu572=) c.1520T= (p.Leu507=) c.2057T= (p.Leu686=) c.1958T= (p.Leu653=) c.1829T= (p.Leu610=) c.1820T= (p.Leu607=) c.1625T= (p.Leu542=) | |
| 15 | g.50242297A>C | CA392376459 | HDC | c.1952T>G (p.Leu651Arg) c.1853T>G (p.Leu618Arg) n.1696T>G c.1715T>G (p.Leu572Arg) c.1520T>G (p.Leu507Arg) c.2057T>G (p.Leu686Arg) c.1958T>G (p.Leu653Arg) c.1829T>G (p.Leu610Arg) c.1820T>G (p.Leu607Arg) c.1625T>G (p.Leu542Arg) | |
| 15 | g.50242297A>G | CA392376457 | HDC | c.1952T>C (p.Leu651Pro) c.1853T>C (p.Leu618Pro) n.1696T>C c.1715T>C (p.Leu572Pro) c.1520T>C (p.Leu507Pro) c.2057T>C (p.Leu686Pro) c.1958T>C (p.Leu653Pro) c.1829T>C (p.Leu610Pro) c.1820T>C (p.Leu607Pro) c.1625T>C (p.Leu542Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242297A>T | CA392376458 | HDC | c.1952T>A (p.Leu651His) c.1853T>A (p.Leu618His) n.1696T>A c.1715T>A (p.Leu572His) c.1520T>A (p.Leu507His) c.2057T>A (p.Leu686His) c.1958T>A (p.Leu653His) c.1829T>A (p.Leu610His) c.1820T>A (p.Leu607His) c.1625T>A (p.Leu542His) | |
| 15 | g.50242298G>A | CA392376460 | HDC | c.1951C>T (p.Leu651Phe) c.1852C>T (p.Leu618Phe) n.1695C>T c.1714C>T (p.Leu572Phe) c.1519C>T (p.Leu507Phe) c.2056C>T (p.Leu686Phe) c.1957C>T (p.Leu653Phe) c.1828C>T (p.Leu610Phe) c.1819C>T (p.Leu607Phe) c.1624C>T (p.Leu542Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50242298G>C | CA392376461 | HDC | c.1951C>G (p.Leu651Val) c.1852C>G (p.Leu618Val) n.1695C>G c.1714C>G (p.Leu572Val) c.1519C>G (p.Leu507Val) c.2056C>G (p.Leu686Val) c.1957C>G (p.Leu653Val) c.1828C>G (p.Leu610Val) c.1819C>G (p.Leu607Val) c.1624C>G (p.Leu542Val) | |
| 15 | g.50242298G= | CA2176326534 | HDC | c.1951C= (p.Leu651=) c.1852C= (p.Leu618=) n.1695C= c.1714C= (p.Leu572=) c.1519C= (p.Leu507=) c.2056C= (p.Leu686=) c.1957C= (p.Leu653=) c.1828C= (p.Leu610=) c.1819C= (p.Leu607=) c.1624C= (p.Leu542=) | |
| 15 | g.50242298G>T | CA392376462 | HDC | c.1951C>A (p.Leu651Ile) c.1852C>A (p.Leu618Ile) n.1695C>A c.1714C>A (p.Leu572Ile) c.1519C>A (p.Leu507Ile) c.2056C>A (p.Leu686Ile) c.1957C>A (p.Leu653Ile) c.1828C>A (p.Leu610Ile) c.1819C>A (p.Leu607Ile) c.1624C>A (p.Leu542Ile) | |
| 15 | g.50242299T>A | CA490064121 | HDC | c.1950A>T (p.Gly650=) c.1851A>T (p.Gly617=) n.1694A>T c.1713A>T (p.Gly571=) c.1518A>T (p.Gly506=) c.2055A>T (p.Gly685=) c.1956A>T (p.Gly652=) c.1827A>T (p.Gly609=) c.1818A>T (p.Gly606=) c.1623A>T (p.Gly541=) | |
| 15 | g.50242299T>C | CA490064120 | HDC | c.1950A>G (p.Gly650=) c.1851A>G (p.Gly617=) n.1694A>G c.1713A>G (p.Gly571=) c.1518A>G (p.Gly506=) c.2055A>G (p.Gly685=) c.1956A>G (p.Gly652=) c.1827A>G (p.Gly609=) c.1818A>G (p.Gly606=) c.1623A>G (p.Gly541=) | |
| 15 | g.50242299T>G | CA7554465 | HDC | c.1950A>C (p.Gly650=) c.1851A>C (p.Gly617=) n.1694A>C c.1713A>C (p.Gly571=) c.1518A>C (p.Gly506=) c.2055A>C (p.Gly685=) c.1956A>C (p.Gly652=) c.1827A>C (p.Gly609=) c.1818A>C (p.Gly606=) c.1623A>C (p.Gly541=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242299T= | CA2176326535 | HDC | c.1950A= (p.Gly650=) c.1851A= (p.Gly617=) n.1694A= c.1713A= (p.Gly571=) c.1518A= (p.Gly506=) c.2055A= (p.Gly685=) c.1956A= (p.Gly652=) c.1827A= (p.Gly609=) c.1818A= (p.Gly606=) c.1623A= (p.Gly541=) | |
| 15 | g.50242300C>A | CA392376463 | HDC | c.1949G>T (p.Gly650Val) c.1850G>T (p.Gly617Val) n.1693G>T c.1712G>T (p.Gly571Val) c.1517G>T (p.Gly506Val) c.2054G>T (p.Gly685Val) c.1955G>T (p.Gly652Val) c.1826G>T (p.Gly609Val) c.1817G>T (p.Gly606Val) c.1622G>T (p.Gly541Val) | |
| 15 | g.50242300C= | CA2176326536 | HDC | c.1949G= (p.Gly650=) c.1850G= (p.Gly617=) n.1693G= c.1712G= (p.Gly571=) c.1517G= (p.Gly506=) c.2054G= (p.Gly685=) c.1955G= (p.Gly652=) c.1826G= (p.Gly609=) c.1817G= (p.Gly606=) c.1622G= (p.Gly541=) | |
| 15 | g.50242300C>G | CA392376464 | HDC | c.1949G>C (p.Gly650Ala) c.1850G>C (p.Gly617Ala) n.1693G>C c.1712G>C (p.Gly571Ala) c.1517G>C (p.Gly506Ala) c.2054G>C (p.Gly685Ala) c.1955G>C (p.Gly652Ala) c.1826G>C (p.Gly609Ala) c.1817G>C (p.Gly606Ala) c.1622G>C (p.Gly541Ala) | |
| 15 | g.50242300C>T | CA270413709 | HDC | c.1949G>A (p.Gly650Glu) c.1850G>A (p.Gly617Glu) n.1693G>A c.1712G>A (p.Gly571Glu) c.1517G>A (p.Gly506Glu) c.2054G>A (p.Gly685Glu) c.1955G>A (p.Gly652Glu) c.1826G>A (p.Gly609Glu) c.1817G>A (p.Gly606Glu) c.1622G>A (p.Gly541Glu) | dbSNP |
| 15 | g.50242301C>A | CA392376465 | HDC | c.1948G>T (p.Gly650Ter) c.1849G>T (p.Gly617Ter) n.1692G>T c.1711G>T (p.Gly571Ter) c.1516G>T (p.Gly506Ter) c.2053G>T (p.Gly685Ter) c.1954G>T (p.Gly652Ter) c.1825G>T (p.Gly609Ter) c.1816G>T (p.Gly606Ter) c.1621G>T (p.Gly541Ter) | |
| 15 | g.50242301C= | CA2176326537 | HDC | c.1948G= (p.Gly650=) c.1849G= (p.Gly617=) n.1692G= c.1711G= (p.Gly571=) c.1516G= (p.Gly506=) c.2053G= (p.Gly685=) c.1954G= (p.Gly652=) c.1825G= (p.Gly609=) c.1816G= (p.Gly606=) c.1621G= (p.Gly541=) | |
| 15 | g.50242301C>G | CA392376466 | HDC | c.1948G>C (p.Gly650Arg) c.1849G>C (p.Gly617Arg) n.1692G>C c.1711G>C (p.Gly571Arg) c.1516G>C (p.Gly506Arg) c.2053G>C (p.Gly685Arg) c.1954G>C (p.Gly652Arg) c.1825G>C (p.Gly609Arg) c.1816G>C (p.Gly606Arg) c.1621G>C (p.Gly541Arg) | |
| 15 | g.50242301C>T | CA392376467 | HDC | c.1948G>A (p.Gly650Arg) c.1849G>A (p.Gly617Arg) n.1692G>A c.1711G>A (p.Gly571Arg) c.1516G>A (p.Gly506Arg) c.2053G>A (p.Gly685Arg) c.1954G>A (p.Gly652Arg) c.1825G>A (p.Gly609Arg) c.1816G>A (p.Gly606Arg) c.1621G>A (p.Gly541Arg) | dbSNP |
| 15 | g.50242302A= | CA2176326538 | HDC | c.1947T= (p.Cys649=) c.1848T= (p.Cys616=) n.1691T= c.1710T= (p.Cys570=) c.1515T= (p.Cys505=) c.2052T= (p.Cys684=) c.1953T= (p.Cys651=) c.1824T= (p.Cys608=) c.1815T= (p.Cys605=) c.1620T= (p.Cys540=) | |
| 15 | g.50242302A>C | CA392376468 | HDC | c.1947T>G (p.Cys649Trp) c.1848T>G (p.Cys616Trp) n.1691T>G c.1710T>G (p.Cys570Trp) c.1515T>G (p.Cys505Trp) c.2052T>G (p.Cys684Trp) c.1953T>G (p.Cys651Trp) c.1824T>G (p.Cys608Trp) c.1815T>G (p.Cys605Trp) c.1620T>G (p.Cys540Trp) | |
| 15 | g.50242302A>G | CA490064122 | HDC | c.1947T>C (p.Cys649=) c.1848T>C (p.Cys616=) n.1691T>C c.1710T>C (p.Cys570=) c.1515T>C (p.Cys505=) c.2052T>C (p.Cys684=) c.1953T>C (p.Cys651=) c.1824T>C (p.Cys608=) c.1815T>C (p.Cys605=) c.1620T>C (p.Cys540=) | |
| 15 | g.50242302A>T | CA392376469 | HDC | c.1947T>A (p.Cys649Ter) c.1848T>A (p.Cys616Ter) n.1691T>A c.1710T>A (p.Cys570Ter) c.1515T>A (p.Cys505Ter) c.2052T>A (p.Cys684Ter) c.1953T>A (p.Cys651Ter) c.1824T>A (p.Cys608Ter) c.1815T>A (p.Cys605Ter) c.1620T>A (p.Cys540Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242303C>A | CA392376471 | HDC | c.1946G>T (p.Cys649Phe) c.1847G>T (p.Cys616Phe) n.1690G>T c.1709G>T (p.Cys570Phe) c.1514G>T (p.Cys505Phe) c.2051G>T (p.Cys684Phe) c.1952G>T (p.Cys651Phe) c.1823G>T (p.Cys608Phe) c.1814G>T (p.Cys605Phe) c.1619G>T (p.Cys540Phe) | |
| 15 | g.50242303C= | CA2176326539 | HDC | c.1946G= (p.Cys649=) c.1847G= (p.Cys616=) n.1690G= c.1709G= (p.Cys570=) c.1514G= (p.Cys505=) c.2051G= (p.Cys684=) c.1952G= (p.Cys651=) c.1823G= (p.Cys608=) c.1814G= (p.Cys605=) c.1619G= (p.Cys540=) | |
| 15 | g.50242303C>G | CA392376470 | HDC | c.1946G>C (p.Cys649Ser) c.1847G>C (p.Cys616Ser) n.1690G>C c.1709G>C (p.Cys570Ser) c.1514G>C (p.Cys505Ser) c.2051G>C (p.Cys684Ser) c.1952G>C (p.Cys651Ser) c.1823G>C (p.Cys608Ser) c.1814G>C (p.Cys605Ser) c.1619G>C (p.Cys540Ser) | |
| 15 | g.50242303C>T | CA7554466 | HDC | c.1946G>A (p.Cys649Tyr) c.1847G>A (p.Cys616Tyr) n.1690G>A c.1709G>A (p.Cys570Tyr) c.1514G>A (p.Cys505Tyr) c.2051G>A (p.Cys684Tyr) c.1952G>A (p.Cys651Tyr) c.1823G>A (p.Cys608Tyr) c.1814G>A (p.Cys605Tyr) c.1619G>A (p.Cys540Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242304A= | CA2176326540 | HDC | c.1945T= (p.Cys649=) c.1846T= (p.Cys616=) n.1689T= c.1708T= (p.Cys570=) c.1513T= (p.Cys505=) c.2050T= (p.Cys684=) c.1951T= (p.Cys651=) c.1822T= (p.Cys608=) c.1813T= (p.Cys605=) c.1618T= (p.Cys540=) | |
| 15 | g.50242304A>C | CA392376472 | HDC | c.1945T>G (p.Cys649Gly) c.1846T>G (p.Cys616Gly) n.1689T>G c.1708T>G (p.Cys570Gly) c.1513T>G (p.Cys505Gly) c.2050T>G (p.Cys684Gly) c.1951T>G (p.Cys651Gly) c.1822T>G (p.Cys608Gly) c.1813T>G (p.Cys605Gly) c.1618T>G (p.Cys540Gly) | |
| 15 | g.50242304A>G | CA392376473 | HDC | c.1945T>C (p.Cys649Arg) c.1846T>C (p.Cys616Arg) n.1689T>C c.1708T>C (p.Cys570Arg) c.1513T>C (p.Cys505Arg) c.2050T>C (p.Cys684Arg) c.1951T>C (p.Cys651Arg) c.1822T>C (p.Cys608Arg) c.1813T>C (p.Cys605Arg) c.1618T>C (p.Cys540Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242304A>T | CA392376474 | HDC | c.1945T>A (p.Cys649Ser) c.1846T>A (p.Cys616Ser) n.1689T>A c.1708T>A (p.Cys570Ser) c.1513T>A (p.Cys505Ser) c.2050T>A (p.Cys684Ser) c.1951T>A (p.Cys651Ser) c.1822T>A (p.Cys608Ser) c.1813T>A (p.Cys605Ser) c.1618T>A (p.Cys540Ser) | |
| 15 | g.50242305T>A | CA392376475 | HDC | c.1944A>T (p.Gln648His) c.1845A>T (p.Gln615His) n.1688A>T c.1707A>T (p.Gln569His) c.1512A>T (p.Gln504His) c.2049A>T (p.Gln683His) c.1950A>T (p.Gln650His) c.1821A>T (p.Gln607His) c.1812A>T (p.Gln604His) c.1617A>T (p.Gln539His) | |
| 15 | g.50242305T>C | CA7554467 | HDC | c.1944A>G (p.Gln648=) c.1845A>G (p.Gln615=) n.1688A>G c.1707A>G (p.Gln569=) c.1512A>G (p.Gln504=) c.2049A>G (p.Gln683=) c.1950A>G (p.Gln650=) c.1821A>G (p.Gln607=) c.1812A>G (p.Gln604=) c.1617A>G (p.Gln539=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.50242305T>G | CA392376476 | HDC | c.1944A>C (p.Gln648His) c.1845A>C (p.Gln615His) n.1688A>C c.1707A>C (p.Gln569His) c.1512A>C (p.Gln504His) c.2049A>C (p.Gln683His) c.1950A>C (p.Gln650His) c.1821A>C (p.Gln607His) c.1812A>C (p.Gln604His) c.1617A>C (p.Gln539His) | |
| 15 | g.50242305T= | CA2176326541 | HDC | c.1944A= (p.Gln648=) c.1845A= (p.Gln615=) n.1688A= c.1707A= (p.Gln569=) c.1512A= (p.Gln504=) c.2049A= (p.Gln683=) c.1950A= (p.Gln650=) c.1821A= (p.Gln607=) c.1812A= (p.Gln604=) c.1617A= (p.Gln539=) | |
| 15 | g.50242306T>A | CA392376479 | HDC | c.1943A>T (p.Gln648Leu) c.1844A>T (p.Gln615Leu) n.1687A>T c.1706A>T (p.Gln569Leu) c.1511A>T (p.Gln504Leu) c.2048A>T (p.Gln683Leu) c.1949A>T (p.Gln650Leu) c.1820A>T (p.Gln607Leu) c.1811A>T (p.Gln604Leu) c.1616A>T (p.Gln539Leu) | |
| 15 | g.50242306T>C | CA392376478 | HDC | c.1943A>G (p.Gln648Arg) c.1844A>G (p.Gln615Arg) n.1687A>G c.1706A>G (p.Gln569Arg) c.1511A>G (p.Gln504Arg) c.2048A>G (p.Gln683Arg) c.1949A>G (p.Gln650Arg) c.1820A>G (p.Gln607Arg) c.1811A>G (p.Gln604Arg) c.1616A>G (p.Gln539Arg) | |
| 15 | g.50242306T>G | CA392376477 | HDC | c.1943A>C (p.Gln648Pro) c.1844A>C (p.Gln615Pro) n.1687A>C c.1706A>C (p.Gln569Pro) c.1511A>C (p.Gln504Pro) c.2048A>C (p.Gln683Pro) c.1949A>C (p.Gln650Pro) c.1820A>C (p.Gln607Pro) c.1811A>C (p.Gln604Pro) c.1616A>C (p.Gln539Pro) | |
| 15 | g.50242307G>A | CA7554468 | HDC | c.1942C>T (p.Gln648Ter) c.1843C>T (p.Gln615Ter) n.1686C>T c.1705C>T (p.Gln569Ter) c.1510C>T (p.Gln504Ter) c.2047C>T (p.Gln683Ter) c.1948C>T (p.Gln650Ter) c.1819C>T (p.Gln607Ter) c.1810C>T (p.Gln604Ter) c.1615C>T (p.Gln539Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.50242307G>C | CA392376480 | HDC | c.1942C>G (p.Gln648Glu) c.1843C>G (p.Gln615Glu) n.1686C>G c.1705C>G (p.Gln569Glu) c.1510C>G (p.Gln504Glu) c.2047C>G (p.Gln683Glu) c.1948C>G (p.Gln650Glu) c.1819C>G (p.Gln607Glu) c.1810C>G (p.Gln604Glu) c.1615C>G (p.Gln539Glu) | |
| 15 | g.50242307G= | CA2176326542 | HDC | c.1942C= (p.Gln648=) c.1843C= (p.Gln615=) n.1686C= c.1705C= (p.Gln569=) c.1510C= (p.Gln504=) c.2047C= (p.Gln683=) c.1948C= (p.Gln650=) c.1819C= (p.Gln607=) c.1810C= (p.Gln604=) c.1615C= (p.Gln539=) | |
| 15 | g.50242307G>T | CA392376481 | HDC | c.1942C>A (p.Gln648Lys) c.1843C>A (p.Gln615Lys) n.1686C>A c.1705C>A (p.Gln569Lys) c.1510C>A (p.Gln504Lys) c.2047C>A (p.Gln683Lys) c.1948C>A (p.Gln650Lys) c.1819C>A (p.Gln607Lys) c.1810C>A (p.Gln604Lys) c.1615C>A (p.Gln539Lys) | |
| 15 | g.50242308A>C | CA490064123 | HDC | c.1941T>G (p.Ser647=) c.1842T>G (p.Ser614=) n.1685T>G c.1704T>G (p.Ser568=) c.1509T>G (p.Ser503=) c.2046T>G (p.Ser682=) c.1947T>G (p.Ser649=) c.1818T>G (p.Ser606=) c.1809T>G (p.Ser603=) c.1614T>G (p.Ser538=) | |
| 15 | g.50242308A>G | CA490064124 | HDC | c.1941T>C (p.Ser647=) c.1842T>C (p.Ser614=) n.1685T>C c.1704T>C (p.Ser568=) c.1509T>C (p.Ser503=) c.2046T>C (p.Ser682=) c.1947T>C (p.Ser649=) c.1818T>C (p.Ser606=) c.1809T>C (p.Ser603=) c.1614T>C (p.Ser538=) | |
| 15 | g.50242308A>T | CA490064125 | HDC | c.1941T>A (p.Ser647=) c.1842T>A (p.Ser614=) n.1685T>A c.1704T>A (p.Ser568=) c.1509T>A (p.Ser503=) c.2046T>A (p.Ser682=) c.1947T>A (p.Ser649=) c.1818T>A (p.Ser606=) c.1809T>A (p.Ser603=) c.1614T>A (p.Ser538=) | |
| 15 | g.50242309G>A | CA392376482 | HDC | c.1940C>T (p.Ser647Phe) c.1841C>T (p.Ser614Phe) n.1684C>T c.1703C>T (p.Ser568Phe) c.1508C>T (p.Ser503Phe) c.2045C>T (p.Ser682Phe) c.1946C>T (p.Ser649Phe) c.1817C>T (p.Ser606Phe) c.1808C>T (p.Ser603Phe) c.1613C>T (p.Ser538Phe) | gnomAD v4 |
| 15 | g.50242309G>C | CA392376483 | HDC | c.1940C>G (p.Ser647Cys) c.1841C>G (p.Ser614Cys) n.1684C>G c.1703C>G (p.Ser568Cys) c.1508C>G (p.Ser503Cys) c.2045C>G (p.Ser682Cys) c.1946C>G (p.Ser649Cys) c.1817C>G (p.Ser606Cys) c.1808C>G (p.Ser603Cys) c.1613C>G (p.Ser538Cys) | dbSNP gnomAD v4 |
| 15 | g.50242309G= | CA2176326543 | HDC | c.1940C= (p.Ser647=) c.1841C= (p.Ser614=) n.1684C= c.1703C= (p.Ser568=) c.1508C= (p.Ser503=) c.2045C= (p.Ser682=) c.1946C= (p.Ser649=) c.1817C= (p.Ser606=) c.1808C= (p.Ser603=) c.1613C= (p.Ser538=) | |
| 15 | g.50242309G>T | CA392376484 | HDC | c.1940C>A (p.Ser647Tyr) c.1841C>A (p.Ser614Tyr) n.1684C>A c.1703C>A (p.Ser568Tyr) c.1508C>A (p.Ser503Tyr) c.2045C>A (p.Ser682Tyr) c.1946C>A (p.Ser649Tyr) c.1817C>A (p.Ser606Tyr) c.1808C>A (p.Ser603Tyr) c.1613C>A (p.Ser538Tyr) | |
| 15 | g.50242310A>C | CA392376485 | HDC | c.1939T>G (p.Ser647Ala) c.1840T>G (p.Ser614Ala) n.1683T>G c.1702T>G (p.Ser568Ala) c.1507T>G (p.Ser503Ala) c.2044T>G (p.Ser682Ala) c.1945T>G (p.Ser649Ala) c.1816T>G (p.Ser606Ala) c.1807T>G (p.Ser603Ala) c.1612T>G (p.Ser538Ala) | |
| 15 | g.50242310A>G | CA392376487 | HDC | c.1939T>C (p.Ser647Pro) c.1840T>C (p.Ser614Pro) n.1683T>C c.1702T>C (p.Ser568Pro) c.1507T>C (p.Ser503Pro) c.2044T>C (p.Ser682Pro) c.1945T>C (p.Ser649Pro) c.1816T>C (p.Ser606Pro) c.1807T>C (p.Ser603Pro) c.1612T>C (p.Ser538Pro) | |
| 15 | g.50242310A>T | CA392376486 | HDC | c.1939T>A (p.Ser647Thr) c.1840T>A (p.Ser614Thr) n.1683T>A c.1702T>A (p.Ser568Thr) c.1507T>A (p.Ser503Thr) c.2044T>A (p.Ser682Thr) c.1945T>A (p.Ser649Thr) c.1816T>A (p.Ser606Thr) c.1807T>A (p.Ser603Thr) c.1612T>A (p.Ser538Thr) | |
| 15 | g.50242311G>A | CA7554469 | HDC | c.1938C>T (p.Ser646=) c.1839C>T (p.Ser613=) n.1682C>T c.1701C>T (p.Ser567=) c.1506C>T (p.Ser502=) c.2043C>T (p.Ser681=) c.1944C>T (p.Ser648=) c.1815C>T (p.Ser605=) c.1806C>T (p.Ser602=) c.1611C>T (p.Ser537=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242311G>C | CA392376488 | HDC | c.1938C>G (p.Ser646Arg) c.1839C>G (p.Ser613Arg) n.1682C>G c.1701C>G (p.Ser567Arg) c.1506C>G (p.Ser502Arg) c.2043C>G (p.Ser681Arg) c.1944C>G (p.Ser648Arg) c.1815C>G (p.Ser605Arg) c.1806C>G (p.Ser602Arg) c.1611C>G (p.Ser537Arg) | |
| 15 | g.50242311G= | CA2176326544 | HDC | c.1938C= (p.Ser646=) c.1839C= (p.Ser613=) n.1682C= c.1701C= (p.Ser567=) c.1506C= (p.Ser502=) c.2043C= (p.Ser681=) c.1944C= (p.Ser648=) c.1815C= (p.Ser605=) c.1806C= (p.Ser602=) c.1611C= (p.Ser537=) | |
| 15 | g.50242311G>T | CA392376489 | HDC | c.1938C>A (p.Ser646Arg) c.1839C>A (p.Ser613Arg) n.1682C>A c.1701C>A (p.Ser567Arg) c.1506C>A (p.Ser502Arg) c.2043C>A (p.Ser681Arg) c.1944C>A (p.Ser648Arg) c.1815C>A (p.Ser605Arg) c.1806C>A (p.Ser602Arg) c.1611C>A (p.Ser537Arg) | |
| 15 | g.50242312C>A | CA392376490 | HDC | c.1937G>T (p.Ser646Ile) c.1838G>T (p.Ser613Ile) n.1681G>T c.1700G>T (p.Ser567Ile) c.1505G>T (p.Ser502Ile) c.2042G>T (p.Ser681Ile) c.1943G>T (p.Ser648Ile) c.1814G>T (p.Ser605Ile) c.1805G>T (p.Ser602Ile) c.1610G>T (p.Ser537Ile) | dbSNP |
| 15 | g.50242312C= | CA2176326545 | HDC | c.1937G= (p.Ser646=) c.1838G= (p.Ser613=) n.1681G= c.1700G= (p.Ser567=) c.1505G= (p.Ser502=) c.2042G= (p.Ser681=) c.1943G= (p.Ser648=) c.1814G= (p.Ser605=) c.1805G= (p.Ser602=) c.1610G= (p.Ser537=) | |
| 15 | g.50242312C>G | CA392376491 | HDC | c.1937G>C (p.Ser646Thr) c.1838G>C (p.Ser613Thr) n.1681G>C c.1700G>C (p.Ser567Thr) c.1505G>C (p.Ser502Thr) c.2042G>C (p.Ser681Thr) c.1943G>C (p.Ser648Thr) c.1814G>C (p.Ser605Thr) c.1805G>C (p.Ser602Thr) c.1610G>C (p.Ser537Thr) | |
| 15 | g.50242312C>T | CA7554470 | HDC | c.1937G>A (p.Ser646Asn) c.1838G>A (p.Ser613Asn) n.1681G>A c.1700G>A (p.Ser567Asn) c.1505G>A (p.Ser502Asn) c.2042G>A (p.Ser681Asn) c.1943G>A (p.Ser648Asn) c.1814G>A (p.Ser605Asn) c.1805G>A (p.Ser602Asn) c.1610G>A (p.Ser537Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242313T>A | CA392376740 | HDC | c.1936A>T (p.Ser646Cys) c.1837A>T (p.Ser613Cys) n.1680A>T c.1699A>T (p.Ser567Cys) c.1504A>T (p.Ser502Cys) c.2041A>T (p.Ser681Cys) c.1942A>T (p.Ser648Cys) c.1813A>T (p.Ser605Cys) c.1804A>T (p.Ser602Cys) c.1609A>T (p.Ser537Cys) | |
| 15 | g.50242313T>C | CA392376741 | HDC | c.1936A>G (p.Ser646Gly) c.1837A>G (p.Ser613Gly) n.1680A>G c.1699A>G (p.Ser567Gly) c.1504A>G (p.Ser502Gly) c.2041A>G (p.Ser681Gly) c.1942A>G (p.Ser648Gly) c.1813A>G (p.Ser605Gly) c.1804A>G (p.Ser602Gly) c.1609A>G (p.Ser537Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242313T>G | CA392376742 | HDC | c.1936A>C (p.Ser646Arg) c.1837A>C (p.Ser613Arg) n.1680A>C c.1699A>C (p.Ser567Arg) c.1504A>C (p.Ser502Arg) c.2041A>C (p.Ser681Arg) c.1942A>C (p.Ser648Arg) c.1813A>C (p.Ser605Arg) c.1804A>C (p.Ser602Arg) c.1609A>C (p.Ser537Arg) | |
| 15 | g.50242313T= | CA2176326546 | HDC | c.1936A= (p.Ser646=) c.1837A= (p.Ser613=) n.1680A= c.1699A= (p.Ser567=) c.1504A= (p.Ser502=) c.2041A= (p.Ser681=) c.1942A= (p.Ser648=) c.1813A= (p.Ser605=) c.1804A= (p.Ser602=) c.1609A= (p.Ser537=) | |
| 15 | g.50242314G>A | CA490313880 | HDC | c.1935C>T (p.Cys645=) c.1836C>T (p.Cys612=) n.1679C>T c.1698C>T (p.Cys566=) c.1503C>T (p.Cys501=) c.2040C>T (p.Cys680=) c.1941C>T (p.Cys647=) c.1812C>T (p.Cys604=) c.1803C>T (p.Cys601=) c.1608C>T (p.Cys536=) | |
| 15 | g.50242314G>C | CA392376743 | HDC | c.1935C>G (p.Cys645Trp) c.1836C>G (p.Cys612Trp) n.1679C>G c.1698C>G (p.Cys566Trp) c.1503C>G (p.Cys501Trp) c.2040C>G (p.Cys680Trp) c.1941C>G (p.Cys647Trp) c.1812C>G (p.Cys604Trp) c.1803C>G (p.Cys601Trp) c.1608C>G (p.Cys536Trp) | |
| 15 | g.50242314G>T | CA392376744 | HDC | c.1935C>A (p.Cys645Ter) c.1836C>A (p.Cys612Ter) n.1679C>A c.1698C>A (p.Cys566Ter) c.1503C>A (p.Cys501Ter) c.2040C>A (p.Cys680Ter) c.1941C>A (p.Cys647Ter) c.1812C>A (p.Cys604Ter) c.1803C>A (p.Cys601Ter) c.1608C>A (p.Cys536Ter) | |
| 15 | g.50242315C>A | CA392376747 | HDC | c.1934G>T (p.Cys645Phe) c.1835G>T (p.Cys612Phe) n.1678G>T c.1697G>T (p.Cys566Phe) c.1502G>T (p.Cys501Phe) c.2039G>T (p.Cys680Phe) c.1940G>T (p.Cys647Phe) c.1811G>T (p.Cys604Phe) c.1802G>T (p.Cys601Phe) c.1607G>T (p.Cys536Phe) | |
| 15 | g.50242315C= | CA2176326547 | HDC | c.1934G= (p.Cys645=) c.1835G= (p.Cys612=) n.1678G= c.1697G= (p.Cys566=) c.1502G= (p.Cys501=) c.2039G= (p.Cys680=) c.1940G= (p.Cys647=) c.1811G= (p.Cys604=) c.1802G= (p.Cys601=) c.1607G= (p.Cys536=) | |
| 15 | g.50242315C>G | CA392376746 | HDC | c.1934G>C (p.Cys645Ser) c.1835G>C (p.Cys612Ser) n.1678G>C c.1697G>C (p.Cys566Ser) c.1502G>C (p.Cys501Ser) c.2039G>C (p.Cys680Ser) c.1940G>C (p.Cys647Ser) c.1811G>C (p.Cys604Ser) c.1802G>C (p.Cys601Ser) c.1607G>C (p.Cys536Ser) | |
| 15 | g.50242315C>T | CA392376745 | HDC | c.1934G>A (p.Cys645Tyr) c.1835G>A (p.Cys612Tyr) n.1678G>A c.1697G>A (p.Cys566Tyr) c.1502G>A (p.Cys501Tyr) c.2039G>A (p.Cys680Tyr) c.1940G>A (p.Cys647Tyr) c.1811G>A (p.Cys604Tyr) c.1802G>A (p.Cys601Tyr) c.1607G>A (p.Cys536Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242316A>C | CA392376748 | HDC | c.1933T>G (p.Cys645Gly) c.1834T>G (p.Cys612Gly) n.1677T>G c.1696T>G (p.Cys566Gly) c.1501T>G (p.Cys501Gly) c.2038T>G (p.Cys680Gly) c.1939T>G (p.Cys647Gly) c.1810T>G (p.Cys604Gly) c.1801T>G (p.Cys601Gly) c.1606T>G (p.Cys536Gly) | |
| 15 | g.50242316A>G | CA392376750 | HDC | c.1933T>C (p.Cys645Arg) c.1834T>C (p.Cys612Arg) n.1677T>C c.1696T>C (p.Cys566Arg) c.1501T>C (p.Cys501Arg) c.2038T>C (p.Cys680Arg) c.1939T>C (p.Cys647Arg) c.1810T>C (p.Cys604Arg) c.1801T>C (p.Cys601Arg) c.1606T>C (p.Cys536Arg) | gnomAD v4 |
| 15 | g.50242316A>T | CA392376749 | HDC | c.1933T>A (p.Cys645Ser) c.1834T>A (p.Cys612Ser) n.1677T>A c.1696T>A (p.Cys566Ser) c.1501T>A (p.Cys501Ser) c.2038T>A (p.Cys680Ser) c.1939T>A (p.Cys647Ser) c.1810T>A (p.Cys604Ser) c.1801T>A (p.Cys601Ser) c.1606T>A (p.Cys536Ser) | |
| 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=) | |
| 15 | g.50242332G>C | CA490313913 | HDC | c.1917C>G (p.Val639=) c.1818C>G (p.Val606=) n.1661C>G c.1680C>G (p.Val560=) c.1485C>G (p.Val495=) c.2022C>G (p.Val674=) c.1923C>G (p.Val641=) c.1794C>G (p.Val598=) c.1785C>G (p.Val595=) c.1590C>G (p.Val530=) | |
| 15 | g.50242332G>T | CA490313911 | HDC | c.1917C>A (p.Val639=) c.1818C>A (p.Val606=) n.1661C>A c.1680C>A (p.Val560=) c.1485C>A (p.Val495=) c.2022C>A (p.Val674=) c.1923C>A (p.Val641=) c.1794C>A (p.Val598=) c.1785C>A (p.Val595=) c.1590C>A (p.Val530=) | gnomAD v4 COSMIC |
| 15 | g.50242333A>C | CA392376785 | HDC | c.1916T>G (p.Val639Gly) c.1817T>G (p.Val606Gly) n.1660T>G c.1679T>G (p.Val560Gly) c.1484T>G (p.Val495Gly) c.2021T>G (p.Val674Gly) c.1922T>G (p.Val641Gly) c.1793T>G (p.Val598Gly) c.1784T>G (p.Val595Gly) c.1589T>G (p.Val530Gly) | |
| 15 | g.50242333A>G | CA392376786 | HDC | c.1916T>C (p.Val639Ala) c.1817T>C (p.Val606Ala) n.1660T>C c.1679T>C (p.Val560Ala) c.1484T>C (p.Val495Ala) c.2021T>C (p.Val674Ala) c.1922T>C (p.Val641Ala) c.1793T>C (p.Val598Ala) c.1784T>C (p.Val595Ala) c.1589T>C (p.Val530Ala) | |
| 15 | g.50242333A>T | CA392376787 | HDC | c.1916T>A (p.Val639Asp) c.1817T>A (p.Val606Asp) n.1660T>A c.1679T>A (p.Val560Asp) c.1484T>A (p.Val495Asp) c.2021T>A (p.Val674Asp) c.1922T>A (p.Val641Asp) c.1793T>A (p.Val598Asp) c.1784T>A (p.Val595Asp) c.1589T>A (p.Val530Asp) | |
| 15 | g.50242334C>A | CA392376788 | HDC | c.1915G>T (p.Val639Phe) c.1816G>T (p.Val606Phe) n.1659G>T c.1678G>T (p.Val560Phe) c.1483G>T (p.Val495Phe) c.2020G>T (p.Val674Phe) c.1921G>T (p.Val641Phe) c.1792G>T (p.Val598Phe) c.1783G>T (p.Val595Phe) c.1588G>T (p.Val530Phe) | COSMIC |
| 15 | g.50242334C= | CA2176326552 | HDC | c.1915G= (p.Val639=) c.1816G= (p.Val606=) n.1659G= c.1678G= (p.Val560=) c.1483G= (p.Val495=) c.2020G= (p.Val674=) c.1921G= (p.Val641=) c.1792G= (p.Val598=) c.1783G= (p.Val595=) c.1588G= (p.Val530=) | |
| 15 | g.50242334C>G | CA392376789 | HDC | c.1915G>C (p.Val639Leu) c.1816G>C (p.Val606Leu) n.1659G>C c.1678G>C (p.Val560Leu) c.1483G>C (p.Val495Leu) c.2020G>C (p.Val674Leu) c.1921G>C (p.Val641Leu) c.1792G>C (p.Val598Leu) c.1783G>C (p.Val595Leu) c.1588G>C (p.Val530Leu) | |
| 15 | g.50242334C>T | CA7554475 | HDC | c.1915G>A (p.Val639Ile) c.1816G>A (p.Val606Ile) n.1659G>A c.1678G>A (p.Val560Ile) c.1483G>A (p.Val495Ile) c.2020G>A (p.Val674Ile) c.1921G>A (p.Val641Ile) c.1792G>A (p.Val598Ile) c.1783G>A (p.Val595Ile) c.1588G>A (p.Val530Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242335G>A | CA490313917 | HDC | c.1914C>T (p.Ser638=) c.1815C>T (p.Ser605=) n.1658C>T c.1677C>T (p.Ser559=) c.1482C>T (p.Ser494=) c.2019C>T (p.Ser673=) c.1920C>T (p.Ser640=) c.1791C>T (p.Ser597=) c.1782C>T (p.Ser594=) c.1587C>T (p.Ser529=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242335G>C | CA392376791 | HDC | c.1914C>G (p.Ser638Arg) c.1815C>G (p.Ser605Arg) n.1658C>G c.1677C>G (p.Ser559Arg) c.1482C>G (p.Ser494Arg) c.2019C>G (p.Ser673Arg) c.1920C>G (p.Ser640Arg) c.1791C>G (p.Ser597Arg) c.1782C>G (p.Ser594Arg) c.1587C>G (p.Ser529Arg) | |
| 15 | g.50242335G= | CA2176326553 | HDC | c.1914C= (p.Ser638=) c.1815C= (p.Ser605=) n.1658C= c.1677C= (p.Ser559=) c.1482C= (p.Ser494=) c.2019C= (p.Ser673=) c.1920C= (p.Ser640=) c.1791C= (p.Ser597=) c.1782C= (p.Ser594=) c.1587C= (p.Ser529=) | |
| 15 | g.50242335G>T | CA392376790 | HDC | c.1914C>A (p.Ser638Arg) c.1815C>A (p.Ser605Arg) n.1658C>A c.1677C>A (p.Ser559Arg) c.1482C>A (p.Ser494Arg) c.2019C>A (p.Ser673Arg) c.1920C>A (p.Ser640Arg) c.1791C>A (p.Ser597Arg) c.1782C>A (p.Ser594Arg) c.1587C>A (p.Ser529Arg) | |
| 15 | g.50242336C>A | CA392376792 | HDC | c.1913G>T (p.Ser638Ile) c.1814G>T (p.Ser605Ile) n.1657G>T c.1676G>T (p.Ser559Ile) c.1481G>T (p.Ser494Ile) c.2018G>T (p.Ser673Ile) c.1919G>T (p.Ser640Ile) c.1790G>T (p.Ser597Ile) c.1781G>T (p.Ser594Ile) c.1586G>T (p.Ser529Ile) | |
| 15 | g.50242336C= | CA2176326554 | HDC | c.1913G= (p.Ser638=) c.1814G= (p.Ser605=) n.1657G= c.1676G= (p.Ser559=) c.1481G= (p.Ser494=) c.2018G= (p.Ser673=) c.1919G= (p.Ser640=) c.1790G= (p.Ser597=) c.1781G= (p.Ser594=) c.1586G= (p.Ser529=) | |
| 15 | g.50242336C>G | CA392376793 | HDC | c.1913G>C (p.Ser638Thr) c.1814G>C (p.Ser605Thr) n.1657G>C c.1676G>C (p.Ser559Thr) c.1481G>C (p.Ser494Thr) c.2018G>C (p.Ser673Thr) c.1919G>C (p.Ser640Thr) c.1790G>C (p.Ser597Thr) c.1781G>C (p.Ser594Thr) c.1586G>C (p.Ser529Thr) | |
| 15 | g.50242336C>T | CA392376794 | HDC | c.1913G>A (p.Ser638Asn) c.1814G>A (p.Ser605Asn) n.1657G>A c.1676G>A (p.Ser559Asn) c.1481G>A (p.Ser494Asn) c.2018G>A (p.Ser673Asn) c.1919G>A (p.Ser640Asn) c.1790G>A (p.Ser597Asn) c.1781G>A (p.Ser594Asn) c.1586G>A (p.Ser529Asn) | dbSNP |
| 15 | g.50242336_50242337insAGAGCATGGACTGGGTTTTGGCCCTCACT | CA2804113957 | HDC | c.1912_1913insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser638LysfsTer2) c.1813_1814insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser605LysfsTer2) n.1656_1657insAGTGAGGGCCAAAACCCAGTCCATGCTCT c.1675_1676insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser559LysfsTer2) c.1480_1481insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser494LysfsTer2) c.2017_2018insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser673LysfsTer2) c.1918_1919insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser640LysfsTer2) c.1789_1790insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser597LysfsTer2) c.1780_1781insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser594LysfsTer2) c.1585_1586insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser529LysfsTer2) | |
| 15 | g.50242337T>A | CA392376795 | HDC | c.1912A>T (p.Ser638Cys) c.1813A>T (p.Ser605Cys) n.1656A>T c.1675A>T (p.Ser559Cys) c.1480A>T (p.Ser494Cys) c.2017A>T (p.Ser673Cys) c.1918A>T (p.Ser640Cys) c.1789A>T (p.Ser597Cys) c.1780A>T (p.Ser594Cys) c.1585A>T (p.Ser529Cys) | |
| 15 | g.50242337T>C | CA392376796 | HDC | c.1912A>G (p.Ser638Gly) c.1813A>G (p.Ser605Gly) n.1656A>G c.1675A>G (p.Ser559Gly) c.1480A>G (p.Ser494Gly) c.2017A>G (p.Ser673Gly) c.1918A>G (p.Ser640Gly) c.1789A>G (p.Ser597Gly) c.1780A>G (p.Ser594Gly) c.1585A>G (p.Ser529Gly) | gnomAD v4 |
| 15 | g.50242337T>G | CA392376797 | HDC | c.1912A>C (p.Ser638Arg) c.1813A>C (p.Ser605Arg) n.1656A>C c.1675A>C (p.Ser559Arg) c.1480A>C (p.Ser494Arg) c.2017A>C (p.Ser673Arg) c.1918A>C (p.Ser640Arg) c.1789A>C (p.Ser597Arg) c.1780A>C (p.Ser594Arg) c.1585A>C (p.Ser529Arg) | |
| 15 | g.50242338G>A | CA490313918 | HDC | c.1911C>T (p.Tyr637=) c.1812C>T (p.Tyr604=) n.1655C>T c.1674C>T (p.Tyr558=) c.1479C>T (p.Tyr493=) c.2016C>T (p.Tyr672=) c.1917C>T (p.Tyr639=) c.1788C>T (p.Tyr596=) c.1779C>T (p.Tyr593=) c.1584C>T (p.Tyr528=) | |
| 15 | g.50242338G>C | CA392376798 | HDC | c.1911C>G (p.Tyr637Ter) c.1812C>G (p.Tyr604Ter) n.1655C>G c.1674C>G (p.Tyr558Ter) c.1479C>G (p.Tyr493Ter) c.2016C>G (p.Tyr672Ter) c.1917C>G (p.Tyr639Ter) c.1788C>G (p.Tyr596Ter) c.1779C>G (p.Tyr593Ter) c.1584C>G (p.Tyr528Ter) | |
| 15 | g.50242338G>T | CA392376799 | HDC | c.1911C>A (p.Tyr637Ter) c.1812C>A (p.Tyr604Ter) n.1655C>A c.1674C>A (p.Tyr558Ter) c.1479C>A (p.Tyr493Ter) c.2016C>A (p.Tyr672Ter) c.1917C>A (p.Tyr639Ter) c.1788C>A (p.Tyr596Ter) c.1779C>A (p.Tyr593Ter) c.1584C>A (p.Tyr528Ter) | |
| 15 | g.50242339T>A | CA392376800 | HDC | c.1910A>T (p.Tyr637Phe) c.1811A>T (p.Tyr604Phe) n.1654A>T c.1673A>T (p.Tyr558Phe) c.1478A>T (p.Tyr493Phe) c.2015A>T (p.Tyr672Phe) c.1916A>T (p.Tyr639Phe) c.1787A>T (p.Tyr596Phe) c.1778A>T (p.Tyr593Phe) c.1583A>T (p.Tyr528Phe) | |
| 15 | g.50242339T>C | CA392376801 | HDC | c.1910A>G (p.Tyr637Cys) c.1811A>G (p.Tyr604Cys) n.1654A>G c.1673A>G (p.Tyr558Cys) c.1478A>G (p.Tyr493Cys) c.2015A>G (p.Tyr672Cys) c.1916A>G (p.Tyr639Cys) c.1787A>G (p.Tyr596Cys) c.1778A>G (p.Tyr593Cys) c.1583A>G (p.Tyr528Cys) | gnomAD v4 |
| 15 | g.50242339T>G | CA392376802 | HDC | c.1910A>C (p.Tyr637Ser) c.1811A>C (p.Tyr604Ser) n.1654A>C c.1673A>C (p.Tyr558Ser) c.1478A>C (p.Tyr493Ser) c.2015A>C (p.Tyr672Ser) c.1916A>C (p.Tyr639Ser) c.1787A>C (p.Tyr596Ser) c.1778A>C (p.Tyr593Ser) c.1583A>C (p.Tyr528Ser) | |
| 15 | g.50242340A>C | CA392376803 | HDC | c.1909T>G (p.Tyr637Asp) c.1810T>G (p.Tyr604Asp) n.1653T>G c.1672T>G (p.Tyr558Asp) c.1477T>G (p.Tyr493Asp) c.2014T>G (p.Tyr672Asp) c.1915T>G (p.Tyr639Asp) c.1786T>G (p.Tyr596Asp) c.1777T>G (p.Tyr593Asp) c.1582T>G (p.Tyr528Asp) | |
| 15 | g.50242340A>G | CA392376804 | HDC | c.1909T>C (p.Tyr637His) c.1810T>C (p.Tyr604His) n.1653T>C c.1672T>C (p.Tyr558His) c.1477T>C (p.Tyr493His) c.2014T>C (p.Tyr672His) c.1915T>C (p.Tyr639His) c.1786T>C (p.Tyr596His) c.1777T>C (p.Tyr593His) c.1582T>C (p.Tyr528His) | |
| 15 | g.50242340A>T | CA392376805 | HDC | c.1909T>A (p.Tyr637Asn) c.1810T>A (p.Tyr604Asn) n.1653T>A c.1672T>A (p.Tyr558Asn) c.1477T>A (p.Tyr493Asn) c.2014T>A (p.Tyr672Asn) c.1915T>A (p.Tyr639Asn) c.1786T>A (p.Tyr596Asn) c.1777T>A (p.Tyr593Asn) c.1582T>A (p.Tyr528Asn) | |
| 15 | g.50242341G>A | CA490313920 | HDC | c.1908C>T (p.Phe636=) c.1809C>T (p.Phe603=) n.1652C>T c.1671C>T (p.Phe557=) c.1476C>T (p.Phe492=) c.2013C>T (p.Phe671=) c.1914C>T (p.Phe638=) c.1785C>T (p.Phe595=) c.1776C>T (p.Phe592=) c.1581C>T (p.Phe527=) | gnomAD v4 |
| 15 | g.50242341G>C | CA392376807 | HDC | c.1908C>G (p.Phe636Leu) c.1809C>G (p.Phe603Leu) n.1652C>G c.1671C>G (p.Phe557Leu) c.1476C>G (p.Phe492Leu) c.2013C>G (p.Phe671Leu) c.1914C>G (p.Phe638Leu) c.1785C>G (p.Phe595Leu) c.1776C>G (p.Phe592Leu) c.1581C>G (p.Phe527Leu) | dbSNP gnomAD v4 |
| 15 | g.50242341G= | CA2176326555 | HDC | c.1908C= (p.Phe636=) c.1809C= (p.Phe603=) n.1652C= c.1671C= (p.Phe557=) c.1476C= (p.Phe492=) c.2013C= (p.Phe671=) c.1914C= (p.Phe638=) c.1785C= (p.Phe595=) c.1776C= (p.Phe592=) c.1581C= (p.Phe527=) | |
| 15 | g.50242341G>T | CA392376806 | HDC | c.1908C>A (p.Phe636Leu) c.1809C>A (p.Phe603Leu) n.1652C>A c.1671C>A (p.Phe557Leu) c.1476C>A (p.Phe492Leu) c.2013C>A (p.Phe671Leu) c.1914C>A (p.Phe638Leu) c.1785C>A (p.Phe595Leu) c.1776C>A (p.Phe592Leu) c.1581C>A (p.Phe527Leu) | dbSNP gnomAD v2 |
| 15 | g.50242342A>C | CA392376808 | HDC | c.1907T>G (p.Phe636Cys) c.1808T>G (p.Phe603Cys) n.1651T>G c.1670T>G (p.Phe557Cys) c.1475T>G (p.Phe492Cys) c.2012T>G (p.Phe671Cys) c.1913T>G (p.Phe638Cys) c.1784T>G (p.Phe595Cys) c.1775T>G (p.Phe592Cys) c.1580T>G (p.Phe527Cys) | |
| 15 | g.50242342A>G | CA392376810 | HDC | c.1907T>C (p.Phe636Ser) c.1808T>C (p.Phe603Ser) n.1651T>C c.1670T>C (p.Phe557Ser) c.1475T>C (p.Phe492Ser) c.2012T>C (p.Phe671Ser) c.1913T>C (p.Phe638Ser) c.1784T>C (p.Phe595Ser) c.1775T>C (p.Phe592Ser) c.1580T>C (p.Phe527Ser) | |
| 15 | g.50242342A>T | CA392376809 | HDC | c.1907T>A (p.Phe636Tyr) c.1808T>A (p.Phe603Tyr) n.1651T>A c.1670T>A (p.Phe557Tyr) c.1475T>A (p.Phe492Tyr) c.2012T>A (p.Phe671Tyr) c.1913T>A (p.Phe638Tyr) c.1784T>A (p.Phe595Tyr) c.1775T>A (p.Phe592Tyr) c.1580T>A (p.Phe527Tyr) | |
| 15 | g.50242343A>C | CA392376811 | HDC | c.1906T>G (p.Phe636Val) c.1807T>G (p.Phe603Val) n.1650T>G c.1669T>G (p.Phe557Val) c.1474T>G (p.Phe492Val) c.2011T>G (p.Phe671Val) c.1912T>G (p.Phe638Val) c.1783T>G (p.Phe595Val) c.1774T>G (p.Phe592Val) c.1579T>G (p.Phe527Val) | |
| 15 | g.50242343A>G | CA392376812 | HDC | c.1906T>C (p.Phe636Leu) c.1807T>C (p.Phe603Leu) n.1650T>C c.1669T>C (p.Phe557Leu) c.1474T>C (p.Phe492Leu) c.2011T>C (p.Phe671Leu) c.1912T>C (p.Phe638Leu) c.1783T>C (p.Phe595Leu) c.1774T>C (p.Phe592Leu) c.1579T>C (p.Phe527Leu) | |
| 15 | g.50242343A>T | CA392376813 | HDC | c.1906T>A (p.Phe636Ile) c.1807T>A (p.Phe603Ile) n.1650T>A c.1669T>A (p.Phe557Ile) c.1474T>A (p.Phe492Ile) c.2011T>A (p.Phe671Ile) c.1912T>A (p.Phe638Ile) c.1783T>A (p.Phe595Ile) c.1774T>A (p.Phe592Ile) c.1579T>A (p.Phe527Ile) | |
| 15 | g.50242344T>A | CA392376814 | HDC | c.1905A>T (p.Lys635Asn) c.1806A>T (p.Lys602Asn) n.1649A>T c.1668A>T (p.Lys556Asn) c.1473A>T (p.Lys491Asn) c.2010A>T (p.Lys670Asn) c.1911A>T (p.Lys637Asn) c.1782A>T (p.Lys594Asn) c.1773A>T (p.Lys591Asn) c.1578A>T (p.Lys526Asn) | |
| 15 | g.50242344T>C | CA490313927 | HDC | c.1905A>G (p.Lys635=) c.1806A>G (p.Lys602=) n.1649A>G c.1668A>G (p.Lys556=) c.1473A>G (p.Lys491=) c.2010A>G (p.Lys670=) c.1911A>G (p.Lys637=) c.1782A>G (p.Lys594=) c.1773A>G (p.Lys591=) c.1578A>G (p.Lys526=) | |
| 15 | g.50242344T>G | CA392376815 | HDC | c.1905A>C (p.Lys635Asn) c.1806A>C (p.Lys602Asn) n.1649A>C c.1668A>C (p.Lys556Asn) c.1473A>C (p.Lys491Asn) c.2010A>C (p.Lys670Asn) c.1911A>C (p.Lys637Asn) c.1782A>C (p.Lys594Asn) c.1773A>C (p.Lys591Asn) c.1578A>C (p.Lys526Asn) | |
| 15 | g.50242345T>A | CA392376816 | HDC | c.1904A>T (p.Lys635Ile) c.1805A>T (p.Lys602Ile) n.1648A>T c.1667A>T (p.Lys556Ile) c.1472A>T (p.Lys491Ile) c.2009A>T (p.Lys670Ile) c.1910A>T (p.Lys637Ile) c.1781A>T (p.Lys594Ile) c.1772A>T (p.Lys591Ile) c.1577A>T (p.Lys526Ile) | |
| 15 | g.50242345T>C | CA392376817 | HDC | c.1904A>G (p.Lys635Arg) c.1805A>G (p.Lys602Arg) n.1648A>G c.1667A>G (p.Lys556Arg) c.1472A>G (p.Lys491Arg) c.2009A>G (p.Lys670Arg) c.1910A>G (p.Lys637Arg) c.1781A>G (p.Lys594Arg) c.1772A>G (p.Lys591Arg) c.1577A>G (p.Lys526Arg) | |
| 15 | g.50242345T>G | CA392376818 | HDC | c.1904A>C (p.Lys635Thr) c.1805A>C (p.Lys602Thr) n.1648A>C c.1667A>C (p.Lys556Thr) c.1472A>C (p.Lys491Thr) c.2009A>C (p.Lys670Thr) c.1910A>C (p.Lys637Thr) c.1781A>C (p.Lys594Thr) c.1772A>C (p.Lys591Thr) c.1577A>C (p.Lys526Thr) | |
| 15 | g.50242346T>A | CA392376819 | HDC | c.1903A>T (p.Lys635Ter) c.1804A>T (p.Lys602Ter) n.1647A>T c.1666A>T (p.Lys556Ter) c.1471A>T (p.Lys491Ter) c.2008A>T (p.Lys670Ter) c.1909A>T (p.Lys637Ter) c.1780A>T (p.Lys594Ter) c.1771A>T (p.Lys591Ter) c.1576A>T (p.Lys526Ter) | |
| 15 | g.50242346T>C | CA392376820 | HDC | c.1903A>G (p.Lys635Glu) c.1804A>G (p.Lys602Glu) n.1647A>G c.1666A>G (p.Lys556Glu) c.1471A>G (p.Lys491Glu) c.2008A>G (p.Lys670Glu) c.1909A>G (p.Lys637Glu) c.1780A>G (p.Lys594Glu) c.1771A>G (p.Lys591Glu) c.1576A>G (p.Lys526Glu) | |
| 15 | g.50242346T>G | CA392376821 | HDC | c.1903A>C (p.Lys635Gln) c.1804A>C (p.Lys602Gln) n.1647A>C c.1666A>C (p.Lys556Gln) c.1471A>C (p.Lys491Gln) c.2008A>C (p.Lys670Gln) c.1909A>C (p.Lys637Gln) c.1780A>C (p.Lys594Gln) c.1771A>C (p.Lys591Gln) c.1576A>C (p.Lys526Gln) | |
| 15 | g.50242347G>A | CA490313929 | HDC | c.1902C>T (p.Ile634=) c.1803C>T (p.Ile601=) n.1646C>T c.1665C>T (p.Ile555=) c.1470C>T (p.Ile490=) c.2007C>T (p.Ile669=) c.1908C>T (p.Ile636=) c.1779C>T (p.Ile593=) c.1770C>T (p.Ile590=) c.1575C>T (p.Ile525=) | gnomAD v4 |
| 15 | g.50242347G>C | CA392376822 | HDC | c.1902C>G (p.Ile634Met) c.1803C>G (p.Ile601Met) n.1646C>G c.1665C>G (p.Ile555Met) c.1470C>G (p.Ile490Met) c.2007C>G (p.Ile669Met) c.1908C>G (p.Ile636Met) c.1779C>G (p.Ile593Met) c.1770C>G (p.Ile590Met) c.1575C>G (p.Ile525Met) | |
| 15 | g.50242347G>T | CA490313928 | HDC | c.1902C>A (p.Ile634=) c.1803C>A (p.Ile601=) n.1646C>A c.1665C>A (p.Ile555=) c.1470C>A (p.Ile490=) c.2007C>A (p.Ile669=) c.1908C>A (p.Ile636=) c.1779C>A (p.Ile593=) c.1770C>A (p.Ile590=) c.1575C>A (p.Ile525=) | |
| 15 | g.50242348A= | CA2176326556 | HDC | c.1901T= (p.Ile634=) c.1802T= (p.Ile601=) n.1645T= c.1664T= (p.Ile555=) c.1469T= (p.Ile490=) c.2006T= (p.Ile669=) c.1907T= (p.Ile636=) c.1778T= (p.Ile593=) c.1769T= (p.Ile590=) c.1574T= (p.Ile525=) | |
| 15 | g.50242348A>C | CA392376825 | HDC | c.1901T>G (p.Ile634Ser) c.1802T>G (p.Ile601Ser) n.1645T>G c.1664T>G (p.Ile555Ser) c.1469T>G (p.Ile490Ser) c.2006T>G (p.Ile669Ser) c.1907T>G (p.Ile636Ser) c.1778T>G (p.Ile593Ser) c.1769T>G (p.Ile590Ser) c.1574T>G (p.Ile525Ser) | |
| 15 | g.50242348A>G | CA392376823 | HDC | c.1901T>C (p.Ile634Thr) c.1802T>C (p.Ile601Thr) n.1645T>C c.1664T>C (p.Ile555Thr) c.1469T>C (p.Ile490Thr) c.2006T>C (p.Ile669Thr) c.1907T>C (p.Ile636Thr) c.1778T>C (p.Ile593Thr) c.1769T>C (p.Ile590Thr) c.1574T>C (p.Ile525Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.50242348A>T | CA392376824 | HDC | c.1901T>A (p.Ile634Asn) c.1802T>A (p.Ile601Asn) n.1645T>A c.1664T>A (p.Ile555Asn) c.1469T>A (p.Ile490Asn) c.2006T>A (p.Ile669Asn) c.1907T>A (p.Ile636Asn) c.1778T>A (p.Ile593Asn) c.1769T>A (p.Ile590Asn) c.1574T>A (p.Ile525Asn) | |
| 15 | g.50242349T>A | CA7554476 | HDC | c.1900A>T (p.Ile634Phe) c.1801A>T (p.Ile601Phe) n.1644A>T c.1663A>T (p.Ile555Phe) c.1468A>T (p.Ile490Phe) c.2005A>T (p.Ile669Phe) c.1906A>T (p.Ile636Phe) c.1777A>T (p.Ile593Phe) c.1768A>T (p.Ile590Phe) c.1573A>T (p.Ile525Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242349T>C | CA392376826 | HDC | c.1900A>G (p.Ile634Val) c.1801A>G (p.Ile601Val) n.1644A>G c.1663A>G (p.Ile555Val) c.1468A>G (p.Ile490Val) c.2005A>G (p.Ile669Val) c.1906A>G (p.Ile636Val) c.1777A>G (p.Ile593Val) c.1768A>G (p.Ile590Val) c.1573A>G (p.Ile525Val) | |
| 15 | g.50242349T>G | CA392376827 | HDC | c.1900A>C (p.Ile634Leu) c.1801A>C (p.Ile601Leu) n.1644A>C c.1663A>C (p.Ile555Leu) c.1468A>C (p.Ile490Leu) c.2005A>C (p.Ile669Leu) c.1906A>C (p.Ile636Leu) c.1777A>C (p.Ile593Leu) c.1768A>C (p.Ile590Leu) c.1573A>C (p.Ile525Leu) | |
| 15 | g.50242349T= | CA2176326557 | HDC | c.1900A= (p.Ile634=) c.1801A= (p.Ile601=) n.1644A= c.1663A= (p.Ile555=) c.1468A= (p.Ile490=) c.2005A= (p.Ile669=) c.1906A= (p.Ile636=) c.1777A= (p.Ile593=) c.1768A= (p.Ile590=) c.1573A= (p.Ile525=) | |
| 15 | g.50242350G>A | CA490313932 | HDC | c.1899C>T (p.Leu633=) c.1800C>T (p.Leu600=) n.1643C>T c.1662C>T (p.Leu554=) c.1467C>T (p.Leu489=) c.2004C>T (p.Leu668=) c.1905C>T (p.Leu635=) c.1776C>T (p.Leu592=) c.1767C>T (p.Leu589=) c.1572C>T (p.Leu524=) | |
| 15 | g.50242350G>C | CA490313933 | HDC | c.1899C>G (p.Leu633=) c.1800C>G (p.Leu600=) n.1643C>G c.1662C>G (p.Leu554=) c.1467C>G (p.Leu489=) c.2004C>G (p.Leu668=) c.1905C>G (p.Leu635=) c.1776C>G (p.Leu592=) c.1767C>G (p.Leu589=) c.1572C>G (p.Leu524=) | |
| 15 | g.50242350G>T | CA490313934 | HDC | c.1899C>A (p.Leu633=) c.1800C>A (p.Leu600=) n.1643C>A c.1662C>A (p.Leu554=) c.1467C>A (p.Leu489=) c.2004C>A (p.Leu668=) c.1905C>A (p.Leu635=) c.1776C>A (p.Leu592=) c.1767C>A (p.Leu589=) c.1572C>A (p.Leu524=) | gnomAD v4 |
| 15 | g.50242351A>C | CA392376828 | HDC | c.1898T>G (p.Leu633Arg) c.1799T>G (p.Leu600Arg) n.1642T>G c.1661T>G (p.Leu554Arg) c.1466T>G (p.Leu489Arg) c.2003T>G (p.Leu668Arg) c.1904T>G (p.Leu635Arg) c.1775T>G (p.Leu592Arg) c.1766T>G (p.Leu589Arg) c.1571T>G (p.Leu524Arg) | |
| 15 | g.50242351A>G | CA392376829 | HDC | c.1898T>C (p.Leu633Pro) c.1799T>C (p.Leu600Pro) n.1642T>C c.1661T>C (p.Leu554Pro) c.1466T>C (p.Leu489Pro) c.2003T>C (p.Leu668Pro) c.1904T>C (p.Leu635Pro) c.1775T>C (p.Leu592Pro) c.1766T>C (p.Leu589Pro) c.1571T>C (p.Leu524Pro) | COSMIC |
| 15 | g.50242351A>T | CA392376830 | HDC | c.1898T>A (p.Leu633His) c.1799T>A (p.Leu600His) n.1642T>A c.1661T>A (p.Leu554His) c.1466T>A (p.Leu489His) c.2003T>A (p.Leu668His) c.1904T>A (p.Leu635His) c.1775T>A (p.Leu592His) c.1766T>A (p.Leu589His) c.1571T>A (p.Leu524His) | |
| 15 | g.50242352G>A | CA392376831 | HDC | c.1897C>T (p.Leu633Phe) c.1798C>T (p.Leu600Phe) n.1641C>T c.1660C>T (p.Leu554Phe) c.1465C>T (p.Leu489Phe) c.2002C>T (p.Leu668Phe) c.1903C>T (p.Leu635Phe) c.1774C>T (p.Leu592Phe) c.1765C>T (p.Leu589Phe) c.1570C>T (p.Leu524Phe) | gnomAD v4 |
| 15 | g.50242352G>C | CA392376832 | HDC | c.1897C>G (p.Leu633Val) c.1798C>G (p.Leu600Val) n.1641C>G c.1660C>G (p.Leu554Val) c.1465C>G (p.Leu489Val) c.2002C>G (p.Leu668Val) c.1903C>G (p.Leu635Val) c.1774C>G (p.Leu592Val) c.1765C>G (p.Leu589Val) c.1570C>G (p.Leu524Val) | |
| 15 | g.50242352G>T | CA392376833 | HDC | c.1897C>A (p.Leu633Ile) c.1798C>A (p.Leu600Ile) n.1641C>A c.1660C>A (p.Leu554Ile) c.1465C>A (p.Leu489Ile) c.2002C>A (p.Leu668Ile) c.1903C>A (p.Leu635Ile) c.1774C>A (p.Leu592Ile) c.1765C>A (p.Leu589Ile) c.1570C>A (p.Leu524Ile) | |
| 15 | g.50242353T>A | CA392376834 | HDC | c.1896A>T (p.Lys632Asn) c.1797A>T (p.Lys599Asn) n.1640A>T c.1659A>T (p.Lys553Asn) c.1464A>T (p.Lys488Asn) c.2001A>T (p.Lys667Asn) c.1902A>T (p.Lys634Asn) c.1773A>T (p.Lys591Asn) c.1764A>T (p.Lys588Asn) c.1569A>T (p.Lys523Asn) | |
| 15 | g.50242353T>C | CA490313938 | HDC | c.1896A>G (p.Lys632=) c.1797A>G (p.Lys599=) n.1640A>G c.1659A>G (p.Lys553=) c.1464A>G (p.Lys488=) c.2001A>G (p.Lys667=) c.1902A>G (p.Lys634=) c.1773A>G (p.Lys591=) c.1764A>G (p.Lys588=) c.1569A>G (p.Lys523=) | |
| 15 | g.50242353T>G | CA392376835 | HDC | c.1896A>C (p.Lys632Asn) c.1797A>C (p.Lys599Asn) n.1640A>C c.1659A>C (p.Lys553Asn) c.1464A>C (p.Lys488Asn) c.2001A>C (p.Lys667Asn) c.1902A>C (p.Lys634Asn) c.1773A>C (p.Lys591Asn) c.1764A>C (p.Lys588Asn) c.1569A>C (p.Lys523Asn) | |
| 15 | g.50242354T>A | CA392376838 | HDC | c.1895A>T (p.Lys632Ile) c.1796A>T (p.Lys599Ile) n.1639A>T c.1658A>T (p.Lys553Ile) c.1463A>T (p.Lys488Ile) c.2000A>T (p.Lys667Ile) c.1901A>T (p.Lys634Ile) c.1772A>T (p.Lys591Ile) c.1763A>T (p.Lys588Ile) c.1568A>T (p.Lys523Ile) | |
| 15 | g.50242354T>C | CA392376837 | HDC | c.1895A>G (p.Lys632Arg) c.1796A>G (p.Lys599Arg) n.1639A>G c.1658A>G (p.Lys553Arg) c.1463A>G (p.Lys488Arg) c.2000A>G (p.Lys667Arg) c.1901A>G (p.Lys634Arg) c.1772A>G (p.Lys591Arg) c.1763A>G (p.Lys588Arg) c.1568A>G (p.Lys523Arg) | |
| 15 | g.50242354T>G | CA392376836 | HDC | c.1895A>C (p.Lys632Thr) c.1796A>C (p.Lys599Thr) n.1639A>C c.1658A>C (p.Lys553Thr) c.1463A>C (p.Lys488Thr) c.2000A>C (p.Lys667Thr) c.1901A>C (p.Lys634Thr) c.1772A>C (p.Lys591Thr) c.1763A>C (p.Lys588Thr) c.1568A>C (p.Lys523Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50242354T= | CA2176326558 | HDC | c.1895A= (p.Lys632=) c.1796A= (p.Lys599=) n.1639A= c.1658A= (p.Lys553=) c.1463A= (p.Lys488=) c.2000A= (p.Lys667=) c.1901A= (p.Lys634=) c.1772A= (p.Lys591=) c.1763A= (p.Lys588=) c.1568A= (p.Lys523=) | |
| 15 | g.50242355T>A | CA392376839 | HDC | c.1894A>T (p.Lys632Ter) c.1795A>T (p.Lys599Ter) n.1638A>T c.1657A>T (p.Lys553Ter) c.1462A>T (p.Lys488Ter) c.1999A>T (p.Lys667Ter) c.1900A>T (p.Lys634Ter) c.1771A>T (p.Lys591Ter) c.1762A>T (p.Lys588Ter) c.1567A>T (p.Lys523Ter) | |
| 15 | g.50242355T>C | CA392376840 | HDC | c.1894A>G (p.Lys632Glu) c.1795A>G (p.Lys599Glu) n.1638A>G c.1657A>G (p.Lys553Glu) c.1462A>G (p.Lys488Glu) c.1999A>G (p.Lys667Glu) c.1900A>G (p.Lys634Glu) c.1771A>G (p.Lys591Glu) c.1762A>G (p.Lys588Glu) c.1567A>G (p.Lys523Glu) | |
| 15 | g.50242355T>G | CA392376841 | HDC | c.1894A>C (p.Lys632Gln) c.1795A>C (p.Lys599Gln) n.1638A>C c.1657A>C (p.Lys553Gln) c.1462A>C (p.Lys488Gln) c.1999A>C (p.Lys667Gln) c.1900A>C (p.Lys634Gln) c.1771A>C (p.Lys591Gln) c.1762A>C (p.Lys588Gln) c.1567A>C (p.Lys523Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50242355T= | CA2176326559 | HDC | c.1894A= (p.Lys632=) c.1795A= (p.Lys599=) n.1638A= c.1657A= (p.Lys553=) c.1462A= (p.Lys488=) c.1999A= (p.Lys667=) c.1900A= (p.Lys634=) c.1771A= (p.Lys591=) c.1762A= (p.Lys588=) c.1567A= (p.Lys523=) | |
| 15 | g.50242356T>A | CA392376842 | HDC | c.1893A>T (p.Lys631Asn) c.1794A>T (p.Lys598Asn) n.1637A>T c.1656A>T (p.Lys552Asn) c.1461A>T (p.Lys487Asn) c.1998A>T (p.Lys666Asn) c.1899A>T (p.Lys633Asn) c.1770A>T (p.Lys590Asn) c.1761A>T (p.Lys587Asn) c.1566A>T (p.Lys522Asn) | |
| 15 | g.50242356T>C | CA490313943 | HDC | c.1893A>G (p.Lys631=) c.1794A>G (p.Lys598=) n.1637A>G c.1656A>G (p.Lys552=) c.1461A>G (p.Lys487=) c.1998A>G (p.Lys666=) c.1899A>G (p.Lys633=) c.1770A>G (p.Lys590=) c.1761A>G (p.Lys587=) c.1566A>G (p.Lys522=) | |
| 15 | g.50242356T>G | CA392376843 | HDC | c.1893A>C (p.Lys631Asn) c.1794A>C (p.Lys598Asn) n.1637A>C c.1656A>C (p.Lys552Asn) c.1461A>C (p.Lys487Asn) c.1998A>C (p.Lys666Asn) c.1899A>C (p.Lys633Asn) c.1770A>C (p.Lys590Asn) c.1761A>C (p.Lys587Asn) c.1566A>C (p.Lys522Asn) | |
| 15 | g.50242357T>A | CA392376844 | HDC | c.1892A>T (p.Lys631Ile) c.1793A>T (p.Lys598Ile) n.1636A>T c.1655A>T (p.Lys552Ile) c.1460A>T (p.Lys487Ile) c.1997A>T (p.Lys666Ile) c.1898A>T (p.Lys633Ile) c.1769A>T (p.Lys590Ile) c.1760A>T (p.Lys587Ile) c.1565A>T (p.Lys522Ile) | |
| 15 | g.50242357T>C | CA392376845 | HDC | c.1892A>G (p.Lys631Arg) c.1793A>G (p.Lys598Arg) n.1636A>G c.1655A>G (p.Lys552Arg) c.1460A>G (p.Lys487Arg) c.1997A>G (p.Lys666Arg) c.1898A>G (p.Lys633Arg) c.1769A>G (p.Lys590Arg) c.1760A>G (p.Lys587Arg) c.1565A>G (p.Lys522Arg) | gnomAD v4 |
| 15 | g.50242357T>G | CA392376846 | HDC | c.1892A>C (p.Lys631Thr) c.1793A>C (p.Lys598Thr) n.1636A>C c.1655A>C (p.Lys552Thr) c.1460A>C (p.Lys487Thr) c.1997A>C (p.Lys666Thr) c.1898A>C (p.Lys633Thr) c.1769A>C (p.Lys590Thr) c.1760A>C (p.Lys587Thr) c.1565A>C (p.Lys522Thr) | |
| 15 | g.50242357_50242358insAGAGCCTACAACCACCACTAAATCACATTGTTTTGCTAATTCACGCACCGCTTCT | CA2552612041 | HDC | c.1892_1893insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu633ArgfsTer5) c.1793_1794insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu600ArgfsTer5) n.1636_1637insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA c.1655_1656insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu554ArgfsTer5) c.1460_1461insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu489ArgfsTer5) c.1997_1998insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu668ArgfsTer5) c.1898_1899insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu635ArgfsTer5) c.1769_1770insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu592ArgfsTer5) c.1760_1761insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu589ArgfsTer5) c.1565_1566insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA (p.Leu524ArgfsTer5) | |
| 15 | g.50242357_50242358insAGAGCCGACAACCACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCT | CA2571414595 | HDC | c.1892_1893insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu633ArgfsTer5) c.1793_1794insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu600ArgfsTer5) n.1636_1637insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA c.1655_1656insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu554ArgfsTer5) c.1460_1461insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu489ArgfsTer5) c.1997_1998insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu668ArgfsTer5) c.1898_1899insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu635ArgfsTer5) c.1769_1770insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu592ArgfsTer5) c.1760_1761insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu589ArgfsTer5) c.1565_1566insGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTGGTTGTCGGCTCTA (p.Leu524ArgfsTer5) | |
| 15 | g.50242357_50242358insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCCT | CA618010227 | HDC | c.1892_1893insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys632AlafsTer21) c.1793_1794insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys599AlafsTer21) n.1636_1637insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA c.1655_1656insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys553AlafsTer21) c.1460_1461insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys488AlafsTer21) c.1997_1998insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys667AlafsTer21) c.1898_1899insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys634AlafsTer21) c.1769_1770insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys591AlafsTer21) c.1760_1761insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys588AlafsTer21) c.1565_1566insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys523AlafsTer21) | gnomAD v2 |
| 15 | g.50242357_50242358insAGAGCCTACAACTACGACTAGCTCACATTGCTTCGCTAATTCACGCACTGCTTCTTGGCGATTGGTTGTGGCATAGCAAATATCGTTTTTATGTGGGCCT | CA2564544937 | HDC | c.1892_1893insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys632AlafsTer21) c.1793_1794insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys599AlafsTer21) n.1636_1637insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA c.1655_1656insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys553AlafsTer21) c.1460_1461insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys488AlafsTer21) c.1997_1998insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys667AlafsTer21) c.1898_1899insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys634AlafsTer21) c.1769_1770insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys591AlafsTer21) c.1760_1761insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys588AlafsTer21) c.1565_1566insGGCCCACATAAAAACGATATTTGCTATGCCACAACCAATCGCCAAGAAGCAGTGCGTGAATTAGCGAAGCAATGTGAGCTAGTCGTAGTTGTAGGCTCTA (p.Lys523AlafsTer21) | |
| 15 | g.50242357_50242358insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGCGGACCT | CA2547369118 | HDC | c.1892_1893insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys632ValfsTer21) c.1793_1794insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys599ValfsTer21) n.1636_1637insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA c.1655_1656insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys553ValfsTer21) c.1460_1461insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys488ValfsTer21) c.1997_1998insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys667ValfsTer21) c.1898_1899insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys634ValfsTer21) c.1769_1770insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys591ValfsTer21) c.1760_1761insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys588ValfsTer21) c.1565_1566insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys523ValfsTer21) | |
| 15 | g.50242357_50242358insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCATTTTTATGTGGGCCT | CA2530865860 | HDC | c.1892_1893insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys632AlafsTer21) c.1793_1794insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys599AlafsTer21) n.1636_1637insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA c.1655_1656insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys553AlafsTer21) c.1460_1461insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys488AlafsTer21) c.1997_1998insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys667AlafsTer21) c.1898_1899insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys634AlafsTer21) c.1769_1770insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys591AlafsTer21) c.1760_1761insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys588AlafsTer21) c.1565_1566insGGCCCACATAAAAATGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys523AlafsTer21) | |
| 15 | g.50242357_50242358insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTGGCATAGCAAATATCGTTTTTATGCGGACCT | CA2516231309 | HDC | c.1892_1893insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys632ValfsTer21) c.1793_1794insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys599ValfsTer21) n.1636_1637insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA c.1655_1656insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys553ValfsTer21) c.1460_1461insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys488ValfsTer21) c.1997_1998insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys667ValfsTer21) c.1898_1899insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys634ValfsTer21) c.1769_1770insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys591ValfsTer21) c.1760_1761insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys588ValfsTer21) c.1565_1566insGGTCCGCATAAAAACGATATTTGCTATGCCACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA (p.Lys523ValfsTer21) | |
| 15 | g.50242358T>A | CA392376847 | HDC | c.1891A>T (p.Lys631Ter) c.1792A>T (p.Lys598Ter) n.1635A>T c.1654A>T (p.Lys552Ter) c.1459A>T (p.Lys487Ter) c.1996A>T (p.Lys666Ter) c.1897A>T (p.Lys633Ter) c.1768A>T (p.Lys590Ter) c.1759A>T (p.Lys587Ter) c.1564A>T (p.Lys522Ter) | |
| 15 | g.50242358T>C | CA392376848 | HDC | c.1891A>G (p.Lys631Glu) c.1792A>G (p.Lys598Glu) n.1635A>G c.1654A>G (p.Lys552Glu) c.1459A>G (p.Lys487Glu) c.1996A>G (p.Lys666Glu) c.1897A>G (p.Lys633Glu) c.1768A>G (p.Lys590Glu) c.1759A>G (p.Lys587Glu) c.1564A>G (p.Lys522Glu) | |
| 15 | g.50242358T>G | CA392376849 | HDC | c.1891A>C (p.Lys631Gln) c.1792A>C (p.Lys598Gln) n.1635A>C c.1654A>C (p.Lys552Gln) c.1459A>C (p.Lys487Gln) c.1996A>C (p.Lys666Gln) c.1897A>C (p.Lys633Gln) c.1768A>C (p.Lys590Gln) c.1759A>C (p.Lys587Gln) c.1564A>C (p.Lys522Gln) | |
| 15 | g.50242359G>A | CA490313947 | HDC | c.1890C>T (p.Phe630=) c.1791C>T (p.Phe597=) n.1634C>T c.1653C>T (p.Phe551=) c.1458C>T (p.Phe486=) c.1995C>T (p.Phe665=) c.1896C>T (p.Phe632=) c.1767C>T (p.Phe589=) c.1758C>T (p.Phe586=) c.1563C>T (p.Phe521=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242359G>C | CA392376850 | HDC | c.1890C>G (p.Phe630Leu) c.1791C>G (p.Phe597Leu) n.1634C>G c.1653C>G (p.Phe551Leu) c.1458C>G (p.Phe486Leu) c.1995C>G (p.Phe665Leu) c.1896C>G (p.Phe632Leu) c.1767C>G (p.Phe589Leu) c.1758C>G (p.Phe586Leu) c.1563C>G (p.Phe521Leu) | |
| 15 | g.50242359G= | CA2176326560 | HDC | c.1890C= (p.Phe630=) c.1791C= (p.Phe597=) n.1634C= c.1653C= (p.Phe551=) c.1458C= (p.Phe486=) c.1995C= (p.Phe665=) c.1896C= (p.Phe632=) c.1767C= (p.Phe589=) c.1758C= (p.Phe586=) c.1563C= (p.Phe521=) | |
| 15 | g.50242359G>T | CA392376851 | HDC | c.1890C>A (p.Phe630Leu) c.1791C>A (p.Phe597Leu) n.1634C>A c.1653C>A (p.Phe551Leu) c.1458C>A (p.Phe486Leu) c.1995C>A (p.Phe665Leu) c.1896C>A (p.Phe632Leu) c.1767C>A (p.Phe589Leu) c.1758C>A (p.Phe586Leu) c.1563C>A (p.Phe521Leu) | dbSNP gnomAD v4 |
| 15 | g.50242360A= | CA2176326561 | HDC | c.1889T= (p.Phe630=) c.1790T= (p.Phe597=) n.1633T= c.1652T= (p.Phe551=) c.1457T= (p.Phe486=) c.1994T= (p.Phe665=) c.1895T= (p.Phe632=) c.1766T= (p.Phe589=) c.1757T= (p.Phe586=) c.1562T= (p.Phe521=) | |
| 15 | g.50242360A>C | CA392376854 | HDC | c.1889T>G (p.Phe630Cys) c.1790T>G (p.Phe597Cys) n.1633T>G c.1652T>G (p.Phe551Cys) c.1457T>G (p.Phe486Cys) c.1994T>G (p.Phe665Cys) c.1895T>G (p.Phe632Cys) c.1766T>G (p.Phe589Cys) c.1757T>G (p.Phe586Cys) c.1562T>G (p.Phe521Cys) | dbSNP gnomAD v4 |
| 15 | g.50242360A>G | CA392376852 | HDC | c.1889T>C (p.Phe630Ser) c.1790T>C (p.Phe597Ser) n.1633T>C c.1652T>C (p.Phe551Ser) c.1457T>C (p.Phe486Ser) c.1994T>C (p.Phe665Ser) c.1895T>C (p.Phe632Ser) c.1766T>C (p.Phe589Ser) c.1757T>C (p.Phe586Ser) c.1562T>C (p.Phe521Ser) | |
| 15 | g.50242360A>T | CA392376853 | HDC | c.1889T>A (p.Phe630Tyr) c.1790T>A (p.Phe597Tyr) n.1633T>A c.1652T>A (p.Phe551Tyr) c.1457T>A (p.Phe486Tyr) c.1994T>A (p.Phe665Tyr) c.1895T>A (p.Phe632Tyr) c.1766T>A (p.Phe589Tyr) c.1757T>A (p.Phe586Tyr) c.1562T>A (p.Phe521Tyr) | |
| 15 | g.50242360_50242361insCGATTCGTTGTGGCAT | CA2516228769 | HDC | c.1888_1889insATGCCACAACGAATCG (p.Phe630TyrfsTer20) c.1789_1790insATGCCACAACGAATCG (p.Phe597TyrfsTer20) n.1632_1633insATGCCACAACGAATCG c.1651_1652insATGCCACAACGAATCG (p.Phe551TyrfsTer20) c.1456_1457insATGCCACAACGAATCG (p.Phe486TyrfsTer20) c.1993_1994insATGCCACAACGAATCG (p.Phe665TyrfsTer20) c.1894_1895insATGCCACAACGAATCG (p.Phe632TyrfsTer20) c.1765_1766insATGCCACAACGAATCG (p.Phe589TyrfsTer20) c.1756_1757insATGCCACAACGAATCG (p.Phe586TyrfsTer20) c.1561_1562insATGCCACAACGAATCG (p.Phe521TyrfsTer20) | |
| 15 | g.50242360_50242361insCGATTGGTGGTGGCAT | CA2532958184 | HDC | c.1888_1889insATGCCACCACCAATCG (p.Phe630TyrfsTer20) c.1789_1790insATGCCACCACCAATCG (p.Phe597TyrfsTer20) n.1632_1633insATGCCACCACCAATCG c.1651_1652insATGCCACCACCAATCG (p.Phe551TyrfsTer20) c.1456_1457insATGCCACCACCAATCG (p.Phe486TyrfsTer20) c.1993_1994insATGCCACCACCAATCG (p.Phe665TyrfsTer20) c.1894_1895insATGCCACCACCAATCG (p.Phe632TyrfsTer20) c.1765_1766insATGCCACCACCAATCG (p.Phe589TyrfsTer20) c.1756_1757insATGCCACCACCAATCG (p.Phe586TyrfsTer20) c.1561_1562insATGCCACCACCAATCG (p.Phe521TyrfsTer20) | |
| 15 | g.50242361A>C | CA392376855 | HDC | c.1888T>G (p.Phe630Val) c.1789T>G (p.Phe597Val) n.1632T>G c.1651T>G (p.Phe551Val) c.1456T>G (p.Phe486Val) c.1993T>G (p.Phe665Val) c.1894T>G (p.Phe632Val) c.1765T>G (p.Phe589Val) c.1756T>G (p.Phe586Val) c.1561T>G (p.Phe521Val) | |
| 15 | g.50242361A>G | CA392376856 | HDC | c.1888T>C (p.Phe630Leu) c.1789T>C (p.Phe597Leu) n.1632T>C c.1651T>C (p.Phe551Leu) c.1456T>C (p.Phe486Leu) c.1993T>C (p.Phe665Leu) c.1894T>C (p.Phe632Leu) c.1765T>C (p.Phe589Leu) c.1756T>C (p.Phe586Leu) c.1561T>C (p.Phe521Leu) | |
| 15 | g.50242361A>T | CA392376857 | HDC | c.1888T>A (p.Phe630Ile) c.1789T>A (p.Phe597Ile) n.1632T>A c.1651T>A (p.Phe551Ile) c.1456T>A (p.Phe486Ile) c.1993T>A (p.Phe665Ile) c.1894T>A (p.Phe632Ile) c.1765T>A (p.Phe589Ile) c.1756T>A (p.Phe586Ile) c.1561T>A (p.Phe521Ile) | |
| 15 | g.50242361_50242362insTC | CA2569091899 | HDC | c.1887_1888insGA (p.Phe630AspfsTer?) c.1788_1789insGA (p.Phe597AspfsTer?) n.1631_1632insGA c.1650_1651insGA (p.Phe551AspfsTer?) c.1455_1456insGA (p.Phe486AspfsTer?) c.1992_1993insGA (p.Phe665AspfsTer?) c.1893_1894insGA (p.Phe632AspfsTer?) c.1764_1765insGA (p.Phe589AspfsTer?) c.1755_1756insGA (p.Phe586AspfsTer?) c.1560_1561insGA (p.Phe521AspfsTer?) | |
| 15 | g.50242362G>A | CA490313949 | HDC | c.1887C>T (p.Ala629=) c.1788C>T (p.Ala596=) n.1631C>T c.1650C>T (p.Ala550=) c.1455C>T (p.Ala485=) c.1992C>T (p.Ala664=) c.1893C>T (p.Ala631=) c.1764C>T (p.Ala588=) c.1755C>T (p.Ala585=) c.1560C>T (p.Ala520=) | dbSNP |
| 15 | g.50242362G>C | CA490313950 | HDC | c.1887C>G (p.Ala629=) c.1788C>G (p.Ala596=) n.1631C>G c.1650C>G (p.Ala550=) c.1455C>G (p.Ala485=) c.1992C>G (p.Ala664=) c.1893C>G (p.Ala631=) c.1764C>G (p.Ala588=) c.1755C>G (p.Ala585=) c.1560C>G (p.Ala520=) | |
| 15 | g.50242362G= | CA2176326562 | HDC | c.1887C= (p.Ala629=) c.1788C= (p.Ala596=) n.1631C= c.1650C= (p.Ala550=) c.1455C= (p.Ala485=) c.1992C= (p.Ala664=) c.1893C= (p.Ala631=) c.1764C= (p.Ala588=) c.1755C= (p.Ala585=) c.1560C= (p.Ala520=) | |
| 15 | g.50242362G>T | CA490313953 | HDC | c.1887C>A (p.Ala629=) c.1788C>A (p.Ala596=) n.1631C>A c.1650C>A (p.Ala550=) c.1455C>A (p.Ala485=) c.1992C>A (p.Ala664=) c.1893C>A (p.Ala631=) c.1764C>A (p.Ala588=) c.1755C>A (p.Ala585=) c.1560C>A (p.Ala520=) | |
| 15 | g.50242362_50242363insCAGGATATTTATCTTTCAAT | CA2522773626 | HDC | c.1886_1887insATTGAAAGATAAATATCCTG (p.Phe630LeufsTer?) c.1787_1788insATTGAAAGATAAATATCCTG (p.Phe597LeufsTer?) n.1630_1631insATTGAAAGATAAATATCCTG c.1649_1650insATTGAAAGATAAATATCCTG (p.Phe551LeufsTer?) c.1454_1455insATTGAAAGATAAATATCCTG (p.Phe486LeufsTer?) c.1991_1992insATTGAAAGATAAATATCCTG (p.Phe665LeufsTer?) c.1892_1893insATTGAAAGATAAATATCCTG (p.Phe632LeufsTer?) c.1763_1764insATTGAAAGATAAATATCCTG (p.Phe589LeufsTer?) c.1754_1755insATTGAAAGATAAATATCCTG (p.Phe586LeufsTer?) c.1559_1560insATTGAAAGATAAATATCCTG (p.Phe521LeufsTer?) | |
| 15 | g.50242362_50242363insCAAATATCGTTTTTATGTGGACCTTGAATCGCAGGATATTTATCTTTCAAT | CA2499901272 | HDC | c.1886_1887insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala629_Phe630insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1787_1788insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala596_Phe597insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) n.1630_1631insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG c.1649_1650insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala550_Phe551insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1454_1455insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala485_Phe486insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1991_1992insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala664_Phe665insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1892_1893insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala631_Phe632insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1763_1764insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala588_Phe589insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1754_1755insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala585_Phe586insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1559_1560insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG (p.Ala520_Phe521insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) | |
| 15 | g.50242362_50242363insCAAATATCATTTTTATGCGGACCTTGAATGGCAGGATATTTGTCTTTCAAT | CA2547811218 | HDC | c.1886_1887insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala629_Phe630insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1787_1788insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala596_Phe597insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) n.1630_1631insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG c.1649_1650insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala550_Phe551insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1454_1455insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala485_Phe486insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1991_1992insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala664_Phe665insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1892_1893insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala631_Phe632insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1763_1764insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala588_Phe589insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1754_1755insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala585_Phe586insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) c.1559_1560insATTGAAAGACAAATATCCTGCCATTCAAGGTCCGCATAAAAATGATATTTG (p.Ala520_Phe521insLeuLysAspLysTyrProAlaIleGlnGlyProHisLysAsnAspIleCys) | |
| 15 | g.50242363G>A | CA392376858 | HDC | c.1886C>T (p.Ala629Val) c.1787C>T (p.Ala596Val) n.1630C>T c.1649C>T (p.Ala550Val) c.1454C>T (p.Ala485Val) c.1991C>T (p.Ala664Val) c.1892C>T (p.Ala631Val) c.1763C>T (p.Ala588Val) c.1754C>T (p.Ala585Val) c.1559C>T (p.Ala520Val) | gnomAD v4 |
| 15 | g.50242363G>C | CA7554477 | HDC | c.1886C>G (p.Ala629Gly) c.1787C>G (p.Ala596Gly) n.1630C>G c.1649C>G (p.Ala550Gly) c.1454C>G (p.Ala485Gly) c.1991C>G (p.Ala664Gly) c.1892C>G (p.Ala631Gly) c.1763C>G (p.Ala588Gly) c.1754C>G (p.Ala585Gly) c.1559C>G (p.Ala520Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242363G= | CA2176326563 | HDC | c.1886C= (p.Ala629=) c.1787C= (p.Ala596=) n.1630C= c.1649C= (p.Ala550=) c.1454C= (p.Ala485=) c.1991C= (p.Ala664=) c.1892C= (p.Ala631=) c.1763C= (p.Ala588=) c.1754C= (p.Ala585=) c.1559C= (p.Ala520=) | |
| 15 | g.50242363G>T | CA392376859 | HDC | c.1886C>A (p.Ala629Asp) c.1787C>A (p.Ala596Asp) n.1630C>A c.1649C>A (p.Ala550Asp) c.1454C>A (p.Ala485Asp) c.1991C>A (p.Ala664Asp) c.1892C>A (p.Ala631Asp) c.1763C>A (p.Ala588Asp) c.1754C>A (p.Ala585Asp) c.1559C>A (p.Ala520Asp) | |
| 15 | g.50242364C>A | CA392376860 | HDC | c.1885G>T (p.Ala629Ser) c.1786G>T (p.Ala596Ser) n.1629G>T c.1648G>T (p.Ala550Ser) c.1453G>T (p.Ala485Ser) c.1990G>T (p.Ala664Ser) c.1891G>T (p.Ala631Ser) c.1762G>T (p.Ala588Ser) c.1753G>T (p.Ala585Ser) c.1558G>T (p.Ala520Ser) | |
| 15 | g.50242364C= | CA2176326564 | HDC | c.1885G= (p.Ala629=) c.1786G= (p.Ala596=) n.1629G= c.1648G= (p.Ala550=) c.1453G= (p.Ala485=) c.1990G= (p.Ala664=) c.1891G= (p.Ala631=) c.1762G= (p.Ala588=) c.1753G= (p.Ala585=) c.1558G= (p.Ala520=) | |
| 15 | g.50242364C>G | CA392376861 | HDC | c.1885G>C (p.Ala629Pro) c.1786G>C (p.Ala596Pro) n.1629G>C c.1648G>C (p.Ala550Pro) c.1453G>C (p.Ala485Pro) c.1990G>C (p.Ala664Pro) c.1891G>C (p.Ala631Pro) c.1762G>C (p.Ala588Pro) c.1753G>C (p.Ala585Pro) c.1558G>C (p.Ala520Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242364C>T | CA392376862 | HDC | c.1885G>A (p.Ala629Thr) c.1786G>A (p.Ala596Thr) n.1629G>A c.1648G>A (p.Ala550Thr) c.1453G>A (p.Ala485Thr) c.1990G>A (p.Ala664Thr) c.1891G>A (p.Ala631Thr) c.1762G>A (p.Ala588Thr) c.1753G>A (p.Ala585Thr) c.1558G>A (p.Ala520Thr) | |
| 15 | g.50242365A>C | CA392376863 | HDC | c.1884T>G (p.Ser628Arg) c.1785T>G (p.Ser595Arg) n.1628T>G c.1647T>G (p.Ser549Arg) c.1452T>G (p.Ser484Arg) c.1989T>G (p.Ser663Arg) c.1890T>G (p.Ser630Arg) c.1761T>G (p.Ser587Arg) c.1752T>G (p.Ser584Arg) c.1557T>G (p.Ser519Arg) | |
| 15 | g.50242365A>G | CA490313957 | HDC | c.1884T>C (p.Ser628=) c.1785T>C (p.Ser595=) n.1628T>C c.1647T>C (p.Ser549=) c.1452T>C (p.Ser484=) c.1989T>C (p.Ser663=) c.1890T>C (p.Ser630=) c.1761T>C (p.Ser587=) c.1752T>C (p.Ser584=) c.1557T>C (p.Ser519=) | gnomAD v4 |
| 15 | g.50242365A>T | CA392376864 | HDC | c.1884T>A (p.Ser628Arg) c.1785T>A (p.Ser595Arg) n.1628T>A c.1647T>A (p.Ser549Arg) c.1452T>A (p.Ser484Arg) c.1989T>A (p.Ser663Arg) c.1890T>A (p.Ser630Arg) c.1761T>A (p.Ser587Arg) c.1752T>A (p.Ser584Arg) c.1557T>A (p.Ser519Arg) | |
| 15 | g.50242366C>A | CA392376867 | HDC | c.1883G>T (p.Ser628Ile) c.1784G>T (p.Ser595Ile) n.1627G>T c.1646G>T (p.Ser549Ile) c.1451G>T (p.Ser484Ile) c.1988G>T (p.Ser663Ile) c.1889G>T (p.Ser630Ile) c.1760G>T (p.Ser587Ile) c.1751G>T (p.Ser584Ile) c.1556G>T (p.Ser519Ile) | |
| 15 | g.50242366C>G | CA392376866 | HDC | c.1883G>C (p.Ser628Thr) c.1784G>C (p.Ser595Thr) n.1627G>C c.1646G>C (p.Ser549Thr) c.1451G>C (p.Ser484Thr) c.1988G>C (p.Ser663Thr) c.1889G>C (p.Ser630Thr) c.1760G>C (p.Ser587Thr) c.1751G>C (p.Ser584Thr) c.1556G>C (p.Ser519Thr) | |
| 15 | g.50242366C>T | CA392376865 | HDC | c.1883G>A (p.Ser628Asn) c.1784G>A (p.Ser595Asn) n.1627G>A c.1646G>A (p.Ser549Asn) c.1451G>A (p.Ser484Asn) c.1988G>A (p.Ser663Asn) c.1889G>A (p.Ser630Asn) c.1760G>A (p.Ser587Asn) c.1751G>A (p.Ser584Asn) c.1556G>A (p.Ser519Asn) | gnomAD v4 |
| 15 | g.50242367T>A | CA392376868 | HDC | c.1882A>T (p.Ser628Cys) c.1783A>T (p.Ser595Cys) n.1626A>T c.1645A>T (p.Ser549Cys) c.1450A>T (p.Ser484Cys) c.1987A>T (p.Ser663Cys) c.1888A>T (p.Ser630Cys) c.1759A>T (p.Ser587Cys) c.1750A>T (p.Ser584Cys) c.1555A>T (p.Ser519Cys) | |
| 15 | g.50242367T>C | CA7554478 | HDC | c.1882A>G (p.Ser628Gly) c.1783A>G (p.Ser595Gly) n.1626A>G c.1645A>G (p.Ser549Gly) c.1450A>G (p.Ser484Gly) c.1987A>G (p.Ser663Gly) c.1888A>G (p.Ser630Gly) c.1759A>G (p.Ser587Gly) c.1750A>G (p.Ser584Gly) c.1555A>G (p.Ser519Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242367T>G | CA392376869 | HDC | c.1882A>C (p.Ser628Arg) c.1783A>C (p.Ser595Arg) n.1626A>C c.1645A>C (p.Ser549Arg) c.1450A>C (p.Ser484Arg) c.1987A>C (p.Ser663Arg) c.1888A>C (p.Ser630Arg) c.1759A>C (p.Ser587Arg) c.1750A>C (p.Ser584Arg) c.1555A>C (p.Ser519Arg) | |
| 15 | g.50242367T= | CA2176326565 | HDC | c.1882A= (p.Ser628=) c.1783A= (p.Ser595=) n.1626A= c.1645A= (p.Ser549=) c.1450A= (p.Ser484=) c.1987A= (p.Ser663=) c.1888A= (p.Ser630=) c.1759A= (p.Ser587=) c.1750A= (p.Ser584=) c.1555A= (p.Ser519=) | |
| 15 | g.50242368T>A | CA392376870 | HDC | c.1881A>T (p.Lys627Asn) c.1782A>T (p.Lys594Asn) n.1625A>T c.1644A>T (p.Lys548Asn) c.1449A>T (p.Lys483Asn) c.1986A>T (p.Lys662Asn) c.1887A>T (p.Lys629Asn) c.1758A>T (p.Lys586Asn) c.1749A>T (p.Lys583Asn) c.1554A>T (p.Lys518Asn) | |
| 15 | g.50242368T>C | CA490313962 | HDC | c.1881A>G (p.Lys627=) c.1782A>G (p.Lys594=) n.1625A>G c.1644A>G (p.Lys548=) c.1449A>G (p.Lys483=) c.1986A>G (p.Lys662=) c.1887A>G (p.Lys629=) c.1758A>G (p.Lys586=) c.1749A>G (p.Lys583=) c.1554A>G (p.Lys518=) | |
| 15 | g.50242368T>G | CA392376871 | HDC | c.1881A>C (p.Lys627Asn) c.1782A>C (p.Lys594Asn) n.1625A>C c.1644A>C (p.Lys548Asn) c.1449A>C (p.Lys483Asn) c.1986A>C (p.Lys662Asn) c.1887A>C (p.Lys629Asn) c.1758A>C (p.Lys586Asn) c.1749A>C (p.Lys583Asn) c.1554A>C (p.Lys518Asn) | |
| 15 | g.50242369T>A | CA392376872 | HDC | c.1880A>T (p.Lys627Ile) c.1781A>T (p.Lys594Ile) n.1624A>T c.1643A>T (p.Lys548Ile) c.1448A>T (p.Lys483Ile) c.1985A>T (p.Lys662Ile) c.1886A>T (p.Lys629Ile) c.1757A>T (p.Lys586Ile) c.1748A>T (p.Lys583Ile) c.1553A>T (p.Lys518Ile) | |
| 15 | g.50242369T>C | CA392376873 | HDC | c.1880A>G (p.Lys627Arg) c.1781A>G (p.Lys594Arg) n.1624A>G c.1643A>G (p.Lys548Arg) c.1448A>G (p.Lys483Arg) c.1985A>G (p.Lys662Arg) c.1886A>G (p.Lys629Arg) c.1757A>G (p.Lys586Arg) c.1748A>G (p.Lys583Arg) c.1553A>G (p.Lys518Arg) | |
| 15 | g.50242369T>G | CA392376874 | HDC | c.1880A>C (p.Lys627Thr) c.1781A>C (p.Lys594Thr) n.1624A>C c.1643A>C (p.Lys548Thr) c.1448A>C (p.Lys483Thr) c.1985A>C (p.Lys662Thr) c.1886A>C (p.Lys629Thr) c.1757A>C (p.Lys586Thr) c.1748A>C (p.Lys583Thr) c.1553A>C (p.Lys518Thr) | |
| 15 | g.50242370T>A | CA392376875 | HDC | c.1879A>T (p.Lys627Ter) c.1780A>T (p.Lys594Ter) n.1623A>T c.1642A>T (p.Lys548Ter) c.1447A>T (p.Lys483Ter) c.1984A>T (p.Lys662Ter) c.1885A>T (p.Lys629Ter) c.1756A>T (p.Lys586Ter) c.1747A>T (p.Lys583Ter) c.1552A>T (p.Lys518Ter) | |
| 15 | g.50242370T>C | CA392376876 | HDC | c.1879A>G (p.Lys627Glu) c.1780A>G (p.Lys594Glu) n.1623A>G c.1642A>G (p.Lys548Glu) c.1447A>G (p.Lys483Glu) c.1984A>G (p.Lys662Glu) c.1885A>G (p.Lys629Glu) c.1756A>G (p.Lys586Glu) c.1747A>G (p.Lys583Glu) c.1552A>G (p.Lys518Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50242370T>G | CA392376877 | HDC | c.1879A>C (p.Lys627Gln) c.1780A>C (p.Lys594Gln) n.1623A>C c.1642A>C (p.Lys548Gln) c.1447A>C (p.Lys483Gln) c.1984A>C (p.Lys662Gln) c.1885A>C (p.Lys629Gln) c.1756A>C (p.Lys586Gln) c.1747A>C (p.Lys583Gln) c.1552A>C (p.Lys518Gln) | |
| 15 | g.50242370T= | CA2176326566 | HDC | c.1879A= (p.Lys627=) c.1780A= (p.Lys594=) n.1623A= c.1642A= (p.Lys548=) c.1447A= (p.Lys483=) c.1984A= (p.Lys662=) c.1885A= (p.Lys629=) c.1756A= (p.Lys586=) c.1747A= (p.Lys583=) c.1552A= (p.Lys518=) | |
| 15 | g.50242371C>A | CA392376878 | HDC | c.1878G>T (p.Lys626Asn) c.1779G>T (p.Lys593Asn) n.1622G>T c.1641G>T (p.Lys547Asn) c.1446G>T (p.Lys482Asn) c.1983G>T (p.Lys661Asn) c.1884G>T (p.Lys628Asn) c.1755G>T (p.Lys585Asn) c.1746G>T (p.Lys582Asn) c.1551G>T (p.Lys517Asn) | |
| 15 | g.50242371C= | CA2176326567 | HDC | c.1878G= (p.Lys626=) c.1779G= (p.Lys593=) n.1622G= c.1641G= (p.Lys547=) c.1446G= (p.Lys482=) c.1983G= (p.Lys661=) c.1884G= (p.Lys628=) c.1755G= (p.Lys585=) c.1746G= (p.Lys582=) c.1551G= (p.Lys517=) | |
| 15 | g.50242371C>G | CA270413792 | HDC | c.1878G>C (p.Lys626Asn) c.1779G>C (p.Lys593Asn) n.1622G>C c.1641G>C (p.Lys547Asn) c.1446G>C (p.Lys482Asn) c.1983G>C (p.Lys661Asn) c.1884G>C (p.Lys628Asn) c.1755G>C (p.Lys585Asn) c.1746G>C (p.Lys582Asn) c.1551G>C (p.Lys517Asn) | dbSNP |
| 15 | g.50242371C>T | CA490313967 | HDC | c.1878G>A (p.Lys626=) c.1779G>A (p.Lys593=) n.1622G>A c.1641G>A (p.Lys547=) c.1446G>A (p.Lys482=) c.1983G>A (p.Lys661=) c.1884G>A (p.Lys628=) c.1755G>A (p.Lys585=) c.1746G>A (p.Lys582=) c.1551G>A (p.Lys517=) | |
| 15 | g.50242372T>A | CA392376879 | HDC | c.1877A>T (p.Lys626Met) c.1778A>T (p.Lys593Met) n.1621A>T c.1640A>T (p.Lys547Met) c.1445A>T (p.Lys482Met) c.1982A>T (p.Lys661Met) c.1883A>T (p.Lys628Met) c.1754A>T (p.Lys585Met) c.1745A>T (p.Lys582Met) c.1550A>T (p.Lys517Met) | |
| 15 | g.50242372T>C | CA392376880 | HDC | c.1877A>G (p.Lys626Arg) c.1778A>G (p.Lys593Arg) n.1621A>G c.1640A>G (p.Lys547Arg) c.1445A>G (p.Lys482Arg) c.1982A>G (p.Lys661Arg) c.1883A>G (p.Lys628Arg) c.1754A>G (p.Lys585Arg) c.1745A>G (p.Lys582Arg) c.1550A>G (p.Lys517Arg) | |
| 15 | g.50242372T>G | CA392376881 | HDC | c.1877A>C (p.Lys626Thr) c.1778A>C (p.Lys593Thr) n.1621A>C c.1640A>C (p.Lys547Thr) c.1445A>C (p.Lys482Thr) c.1982A>C (p.Lys661Thr) c.1883A>C (p.Lys628Thr) c.1754A>C (p.Lys585Thr) c.1745A>C (p.Lys582Thr) c.1550A>C (p.Lys517Thr) | |
| 15 | g.50242373T>A | CA392376884 | HDC | c.1876A>T (p.Lys626Ter) c.1777A>T (p.Lys593Ter) n.1620A>T c.1639A>T (p.Lys547Ter) c.1444A>T (p.Lys482Ter) c.1981A>T (p.Lys661Ter) c.1882A>T (p.Lys628Ter) c.1753A>T (p.Lys585Ter) c.1744A>T (p.Lys582Ter) c.1549A>T (p.Lys517Ter) | |
| 15 | g.50242373T>C | CA392376882 | HDC | c.1876A>G (p.Lys626Glu) c.1777A>G (p.Lys593Glu) n.1620A>G c.1639A>G (p.Lys547Glu) c.1444A>G (p.Lys482Glu) c.1981A>G (p.Lys661Glu) c.1882A>G (p.Lys628Glu) c.1753A>G (p.Lys585Glu) c.1744A>G (p.Lys582Glu) c.1549A>G (p.Lys517Glu) | |
| 15 | g.50242373T>G | CA392376883 | HDC | c.1876A>C (p.Lys626Gln) c.1777A>C (p.Lys593Gln) n.1620A>C c.1639A>C (p.Lys547Gln) c.1444A>C (p.Lys482Gln) c.1981A>C (p.Lys661Gln) c.1882A>C (p.Lys628Gln) c.1753A>C (p.Lys585Gln) c.1744A>C (p.Lys582Gln) c.1549A>C (p.Lys517Gln) | |
| 15 | g.50242374C>A | CA490313970 | HDC | c.1875G>T (p.Leu625=) c.1776G>T (p.Leu592=) n.1619G>T c.1638G>T (p.Leu546=) c.1443G>T (p.Leu481=) c.1980G>T (p.Leu660=) c.1881G>T (p.Leu627=) c.1752G>T (p.Leu584=) c.1743G>T (p.Leu581=) c.1548G>T (p.Leu516=) | |
| 15 | g.50242374C= | CA2176326568 | HDC | c.1875G= (p.Leu625=) c.1776G= (p.Leu592=) n.1619G= c.1638G= (p.Leu546=) c.1443G= (p.Leu481=) c.1980G= (p.Leu660=) c.1881G= (p.Leu627=) c.1752G= (p.Leu584=) c.1743G= (p.Leu581=) c.1548G= (p.Leu516=) | |
| 15 | g.50242374C>G | CA490313969 | HDC | c.1875G>C (p.Leu625=) c.1776G>C (p.Leu592=) n.1619G>C c.1638G>C (p.Leu546=) c.1443G>C (p.Leu481=) c.1980G>C (p.Leu660=) c.1881G>C (p.Leu627=) c.1752G>C (p.Leu584=) c.1743G>C (p.Leu581=) c.1548G>C (p.Leu516=) | |
| 15 | g.50242374C>T | CA490313971 | HDC | c.1875G>A (p.Leu625=) c.1776G>A (p.Leu592=) n.1619G>A c.1638G>A (p.Leu546=) c.1443G>A (p.Leu481=) c.1980G>A (p.Leu660=) c.1881G>A (p.Leu627=) c.1752G>A (p.Leu584=) c.1743G>A (p.Leu581=) c.1548G>A (p.Leu516=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242376_50242378dup | CA2628396210 | HDC | c.1873_1875dup (p.Leu625_Lys626insLeu) c.1774_1776dup (p.Leu592_Lys593insLeu) n.1617_1619dup c.1636_1638dup (p.Leu546_Lys547insLeu) c.1441_1443dup (p.Leu481_Lys482insLeu) c.1978_1980dup (p.Leu660_Lys661insLeu) c.1879_1881dup (p.Leu627_Lys628insLeu) c.1750_1752dup (p.Leu584_Lys585insLeu) c.1741_1743dup (p.Leu581_Lys582insLeu) c.1546_1548dup (p.Leu516_Lys517insLeu) | gnomAD v4 |
| 15 | g.50242375A= | CA2176326569 | HDC | c.1874T= (p.Leu625=) c.1775T= (p.Leu592=) n.1618T= c.1637T= (p.Leu546=) c.1442T= (p.Leu481=) c.1979T= (p.Leu660=) c.1880T= (p.Leu627=) c.1751T= (p.Leu584=) c.1742T= (p.Leu581=) c.1547T= (p.Leu516=) | |
| 15 | g.50242375A>C | CA392376885 | HDC | c.1874T>G (p.Leu625Arg) c.1775T>G (p.Leu592Arg) n.1618T>G c.1637T>G (p.Leu546Arg) c.1442T>G (p.Leu481Arg) c.1979T>G (p.Leu660Arg) c.1880T>G (p.Leu627Arg) c.1751T>G (p.Leu584Arg) c.1742T>G (p.Leu581Arg) c.1547T>G (p.Leu516Arg) | |
| 15 | g.50242375A>G | CA392376886 | HDC | c.1874T>C (p.Leu625Pro) c.1775T>C (p.Leu592Pro) n.1618T>C c.1637T>C (p.Leu546Pro) c.1442T>C (p.Leu481Pro) c.1979T>C (p.Leu660Pro) c.1880T>C (p.Leu627Pro) c.1751T>C (p.Leu584Pro) c.1742T>C (p.Leu581Pro) c.1547T>C (p.Leu516Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242375A>T | CA392376887 | HDC | c.1874T>A (p.Leu625Gln) c.1775T>A (p.Leu592Gln) n.1618T>A c.1637T>A (p.Leu546Gln) c.1442T>A (p.Leu481Gln) c.1979T>A (p.Leu660Gln) c.1880T>A (p.Leu627Gln) c.1751T>A (p.Leu584Gln) c.1742T>A (p.Leu581Gln) c.1547T>A (p.Leu516Gln) | |
| 15 | g.50242376G>A | CA490313973 | HDC | c.1873C>T (p.Leu625=) c.1774C>T (p.Leu592=) n.1617C>T c.1636C>T (p.Leu546=) c.1441C>T (p.Leu481=) c.1978C>T (p.Leu660=) c.1879C>T (p.Leu627=) c.1750C>T (p.Leu584=) c.1741C>T (p.Leu581=) c.1546C>T (p.Leu516=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242376G>C | CA392376888 | HDC | c.1873C>G (p.Leu625Val) c.1774C>G (p.Leu592Val) n.1617C>G c.1636C>G (p.Leu546Val) c.1441C>G (p.Leu481Val) c.1978C>G (p.Leu660Val) c.1879C>G (p.Leu627Val) c.1750C>G (p.Leu584Val) c.1741C>G (p.Leu581Val) c.1546C>G (p.Leu516Val) | |
| 15 | g.50242376G= | CA2176326571 | HDC | c.1873C= (p.Leu625=) c.1774C= (p.Leu592=) n.1617C= c.1636C= (p.Leu546=) c.1441C= (p.Leu481=) c.1978C= (p.Leu660=) c.1879C= (p.Leu627=) c.1750C= (p.Leu584=) c.1741C= (p.Leu581=) c.1546C= (p.Leu516=) | |
| 15 | g.50242376G>T | CA392376889 | HDC | c.1873C>A (p.Leu625Met) c.1774C>A (p.Leu592Met) n.1617C>A c.1636C>A (p.Leu546Met) c.1441C>A (p.Leu481Met) c.1978C>A (p.Leu660Met) c.1879C>A (p.Leu627Met) c.1750C>A (p.Leu584Met) c.1741C>A (p.Leu581Met) c.1546C>A (p.Leu516Met) | |
| 15 | g.50242376_50242379delinsGCAT | CA2176326570 | HDC | c.1870_1873delinsATGC (p.Met624=) c.1771_1774delinsATGC (p.Met591=) n.1614_1617delinsATGC c.1633_1636delinsATGC (p.Met545=) c.1438_1441delinsATGC (p.Met480=) c.1975_1978delinsATGC (p.Met659=) c.1876_1879delinsATGC (p.Met626=) c.1747_1750delinsATGC (p.Met583=) c.1738_1741delinsATGC (p.Met580=) c.1543_1546delinsATGC (p.Met515=) | |
| 15 | g.50242377C>A | CA7554479 | HDC | c.1872G>T (p.Met624Ile) c.1773G>T (p.Met591Ile) n.1616G>T c.1635G>T (p.Met545Ile) c.1440G>T (p.Met480Ile) c.1977G>T (p.Met659Ile) c.1878G>T (p.Met626Ile) c.1749G>T (p.Met583Ile) c.1740G>T (p.Met580Ile) c.1545G>T (p.Met515Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242377C= | CA2176326573 | HDC | c.1872G= (p.Met624=) c.1773G= (p.Met591=) n.1616G= c.1635G= (p.Met545=) c.1440G= (p.Met480=) c.1977G= (p.Met659=) c.1878G= (p.Met626=) c.1749G= (p.Met583=) c.1740G= (p.Met580=) c.1545G= (p.Met515=) | |
| 15 | g.50242377C>G | CA392376890 | HDC | c.1872G>C (p.Met624Ile) c.1773G>C (p.Met591Ile) n.1616G>C c.1635G>C (p.Met545Ile) c.1440G>C (p.Met480Ile) c.1977G>C (p.Met659Ile) c.1878G>C (p.Met626Ile) c.1749G>C (p.Met583Ile) c.1740G>C (p.Met580Ile) c.1545G>C (p.Met515Ile) | |
| 15 | g.50242377C>T | CA392376891 | HDC | c.1872G>A (p.Met624Ile) c.1773G>A (p.Met591Ile) n.1616G>A c.1635G>A (p.Met545Ile) c.1440G>A (p.Met480Ile) c.1977G>A (p.Met659Ile) c.1878G>A (p.Met626Ile) c.1749G>A (p.Met583Ile) c.1740G>A (p.Met580Ile) c.1545G>A (p.Met515Ile) | gnomAD v4 |
| 15 | g.50242383_50242385del | CA2176326572 | HDC | c.1870_1872del (p.Met624del) c.1771_1773del (p.Met591del) n.1614_1616del c.1633_1635del (p.Met545del) c.1438_1440del (p.Met480del) c.1975_1977del (p.Met659del) c.1876_1878del (p.Met626del) c.1747_1749del (p.Met583del) c.1738_1740del (p.Met580del) c.1543_1545del (p.Met515del) | dbSNP |
| 15 | g.50242378A>C | CA392376892 | HDC | c.1871T>G (p.Met624Arg) c.1772T>G (p.Met591Arg) n.1615T>G c.1634T>G (p.Met545Arg) c.1439T>G (p.Met480Arg) c.1976T>G (p.Met659Arg) c.1877T>G (p.Met626Arg) c.1748T>G (p.Met583Arg) c.1739T>G (p.Met580Arg) c.1544T>G (p.Met515Arg) | |
| 15 | g.50242378A>G | CA392376893 | HDC | c.1871T>C (p.Met624Thr) c.1772T>C (p.Met591Thr) n.1615T>C c.1634T>C (p.Met545Thr) c.1439T>C (p.Met480Thr) c.1976T>C (p.Met659Thr) c.1877T>C (p.Met626Thr) c.1748T>C (p.Met583Thr) c.1739T>C (p.Met580Thr) c.1544T>C (p.Met515Thr) | |
| 15 | g.50242378A>T | CA392376894 | HDC | c.1871T>A (p.Met624Lys) c.1772T>A (p.Met591Lys) n.1615T>A c.1634T>A (p.Met545Lys) c.1439T>A (p.Met480Lys) c.1976T>A (p.Met659Lys) c.1877T>A (p.Met626Lys) c.1748T>A (p.Met583Lys) c.1739T>A (p.Met580Lys) c.1544T>A (p.Met515Lys) | |
| 15 | g.50242379T>A | CA392376895 | HDC | c.1870A>T (p.Met624Leu) c.1771A>T (p.Met591Leu) n.1614A>T c.1633A>T (p.Met545Leu) c.1438A>T (p.Met480Leu) c.1975A>T (p.Met659Leu) c.1876A>T (p.Met626Leu) c.1747A>T (p.Met583Leu) c.1738A>T (p.Met580Leu) c.1543A>T (p.Met515Leu) | gnomAD v4 |
| 15 | g.50242379T>C | CA392376896 | HDC | c.1870A>G (p.Met624Val) c.1771A>G (p.Met591Val) n.1614A>G c.1633A>G (p.Met545Val) c.1438A>G (p.Met480Val) c.1975A>G (p.Met659Val) c.1876A>G (p.Met626Val) c.1747A>G (p.Met583Val) c.1738A>G (p.Met580Val) c.1543A>G (p.Met515Val) | |
| 15 | g.50242379T>G | CA7554480 | HDC | c.1870A>C (p.Met624Leu) c.1771A>C (p.Met591Leu) n.1614A>C c.1633A>C (p.Met545Leu) c.1438A>C (p.Met480Leu) c.1975A>C (p.Met659Leu) c.1876A>C (p.Met626Leu) c.1747A>C (p.Met583Leu) c.1738A>C (p.Met580Leu) c.1543A>C (p.Met515Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242379T= | CA2176326574 | HDC | c.1870A= (p.Met624=) c.1771A= (p.Met591=) n.1614A= c.1633A= (p.Met545=) c.1438A= (p.Met480=) c.1975A= (p.Met659=) c.1876A= (p.Met626=) c.1747A= (p.Met583=) c.1738A= (p.Met580=) c.1543A= (p.Met515=) | |
| 15 | g.50242380C>A | CA392376897 | HDC | c.1869G>T (p.Met623Ile) c.1770G>T (p.Met590Ile) n.1613G>T c.1632G>T (p.Met544Ile) c.1437G>T (p.Met479Ile) c.1974G>T (p.Met658Ile) c.1875G>T (p.Met625Ile) c.1746G>T (p.Met582Ile) c.1737G>T (p.Met579Ile) c.1542G>T (p.Met514Ile) | COSMIC |
| 15 | g.50242380C>G | CA392376898 | HDC | c.1869G>C (p.Met623Ile) c.1770G>C (p.Met590Ile) n.1613G>C c.1632G>C (p.Met544Ile) c.1437G>C (p.Met479Ile) c.1974G>C (p.Met658Ile) c.1875G>C (p.Met625Ile) c.1746G>C (p.Met582Ile) c.1737G>C (p.Met579Ile) c.1542G>C (p.Met514Ile) | |
| 15 | g.50242380C>T | CA392376899 | HDC | c.1869G>A (p.Met623Ile) c.1770G>A (p.Met590Ile) n.1613G>A c.1632G>A (p.Met544Ile) c.1437G>A (p.Met479Ile) c.1974G>A (p.Met658Ile) c.1875G>A (p.Met625Ile) c.1746G>A (p.Met582Ile) c.1737G>A (p.Met579Ile) c.1542G>A (p.Met514Ile) | |
| 15 | g.50242381A>C | CA392376900 | HDC | c.1868T>G (p.Met623Arg) c.1769T>G (p.Met590Arg) n.1612T>G c.1631T>G (p.Met544Arg) c.1436T>G (p.Met479Arg) c.1973T>G (p.Met658Arg) c.1874T>G (p.Met625Arg) c.1745T>G (p.Met582Arg) c.1736T>G (p.Met579Arg) c.1541T>G (p.Met514Arg) | |
| 15 | g.50242381A>G | CA392376901 | HDC | c.1868T>C (p.Met623Thr) c.1769T>C (p.Met590Thr) n.1612T>C c.1631T>C (p.Met544Thr) c.1436T>C (p.Met479Thr) c.1973T>C (p.Met658Thr) c.1874T>C (p.Met625Thr) c.1745T>C (p.Met582Thr) c.1736T>C (p.Met579Thr) c.1541T>C (p.Met514Thr) | |
| 15 | g.50242381A>T | CA392376902 | HDC | c.1868T>A (p.Met623Lys) c.1769T>A (p.Met590Lys) n.1612T>A c.1631T>A (p.Met544Lys) c.1436T>A (p.Met479Lys) c.1973T>A (p.Met658Lys) c.1874T>A (p.Met625Lys) c.1745T>A (p.Met582Lys) c.1736T>A (p.Met579Lys) c.1541T>A (p.Met514Lys) | |
| 15 | g.50242382T>A | CA392376903 | HDC | c.1867A>T (p.Met623Leu) c.1768A>T (p.Met590Leu) n.1611A>T c.1630A>T (p.Met544Leu) c.1435A>T (p.Met479Leu) c.1972A>T (p.Met658Leu) c.1873A>T (p.Met625Leu) c.1744A>T (p.Met582Leu) c.1735A>T (p.Met579Leu) c.1540A>T (p.Met514Leu) | |
| 15 | g.50242382T>C | CA392376904 | HDC | c.1867A>G (p.Met623Val) c.1768A>G (p.Met590Val) n.1611A>G c.1630A>G (p.Met544Val) c.1435A>G (p.Met479Val) c.1972A>G (p.Met658Val) c.1873A>G (p.Met625Val) c.1744A>G (p.Met582Val) c.1735A>G (p.Met579Val) c.1540A>G (p.Met514Val) | |
| 15 | g.50242382T>G | CA392376905 | HDC | c.1867A>C (p.Met623Leu) c.1768A>C (p.Met590Leu) n.1611A>C c.1630A>C (p.Met544Leu) c.1435A>C (p.Met479Leu) c.1972A>C (p.Met658Leu) c.1873A>C (p.Met625Leu) c.1744A>C (p.Met582Leu) c.1735A>C (p.Met579Leu) c.1540A>C (p.Met514Leu) | |
| 15 | g.50242383C>A | CA392376906 | HDC | c.1866G>T (p.Met622Ile) c.1767G>T (p.Met589Ile) n.1610G>T c.1629G>T (p.Met543Ile) c.1434G>T (p.Met478Ile) c.1971G>T (p.Met657Ile) c.1872G>T (p.Met624Ile) c.1743G>T (p.Met581Ile) c.1734G>T (p.Met578Ile) c.1539G>T (p.Met513Ile) | |
| 15 | g.50242383C>G | CA392376907 | HDC | c.1866G>C (p.Met622Ile) c.1767G>C (p.Met589Ile) n.1610G>C c.1629G>C (p.Met543Ile) c.1434G>C (p.Met478Ile) c.1971G>C (p.Met657Ile) c.1872G>C (p.Met624Ile) c.1743G>C (p.Met581Ile) c.1734G>C (p.Met578Ile) c.1539G>C (p.Met513Ile) | |
| 15 | g.50242383C>T | CA392376908 | HDC | c.1866G>A (p.Met622Ile) c.1767G>A (p.Met589Ile) n.1610G>A c.1629G>A (p.Met543Ile) c.1434G>A (p.Met478Ile) c.1971G>A (p.Met657Ile) c.1872G>A (p.Met624Ile) c.1743G>A (p.Met581Ile) c.1734G>A (p.Met578Ile) c.1539G>A (p.Met513Ile) | gnomAD v4 |
| 15 | g.50242384A= | CA2176326575 | HDC | c.1865T= (p.Met622=) c.1766T= (p.Met589=) n.1609T= c.1628T= (p.Met543=) c.1433T= (p.Met478=) c.1970T= (p.Met657=) c.1871T= (p.Met624=) c.1742T= (p.Met581=) c.1733T= (p.Met578=) c.1538T= (p.Met513=) | |
| 15 | g.50242384A>C | CA392376909 | HDC | c.1865T>G (p.Met622Arg) c.1766T>G (p.Met589Arg) n.1609T>G c.1628T>G (p.Met543Arg) c.1433T>G (p.Met478Arg) c.1970T>G (p.Met657Arg) c.1871T>G (p.Met624Arg) c.1742T>G (p.Met581Arg) c.1733T>G (p.Met578Arg) c.1538T>G (p.Met513Arg) | |
| 15 | g.50242384A>G | CA7554481 | HDC | c.1865T>C (p.Met622Thr) c.1766T>C (p.Met589Thr) n.1609T>C c.1628T>C (p.Met543Thr) c.1433T>C (p.Met478Thr) c.1970T>C (p.Met657Thr) c.1871T>C (p.Met624Thr) c.1742T>C (p.Met581Thr) c.1733T>C (p.Met578Thr) c.1538T>C (p.Met513Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242384A>T | CA7554482 | HDC | c.1865T>A (p.Met622Lys) c.1766T>A (p.Met589Lys) n.1609T>A c.1628T>A (p.Met543Lys) c.1433T>A (p.Met478Lys) c.1970T>A (p.Met657Lys) c.1871T>A (p.Met624Lys) c.1742T>A (p.Met581Lys) c.1733T>A (p.Met578Lys) c.1538T>A (p.Met513Lys) | dbSNP ExAC gnomAD v2 |
| 15 | g.50242385T>A | CA392376910 | HDC | c.1864A>T (p.Met622Leu) c.1765A>T (p.Met589Leu) n.1608A>T c.1627A>T (p.Met543Leu) c.1432A>T (p.Met478Leu) c.1969A>T (p.Met657Leu) c.1870A>T (p.Met624Leu) c.1741A>T (p.Met581Leu) c.1732A>T (p.Met578Leu) c.1537A>T (p.Met513Leu) | |
| 15 | g.50242385T>C | CA392376911 | HDC | c.1864A>G (p.Met622Val) c.1765A>G (p.Met589Val) n.1608A>G c.1627A>G (p.Met543Val) c.1432A>G (p.Met478Val) c.1969A>G (p.Met657Val) c.1870A>G (p.Met624Val) c.1741A>G (p.Met581Val) c.1732A>G (p.Met578Val) c.1537A>G (p.Met513Val) | |
| 15 | g.50242385T>G | CA392376912 | HDC | c.1864A>C (p.Met622Leu) c.1765A>C (p.Met589Leu) n.1608A>C c.1627A>C (p.Met543Leu) c.1432A>C (p.Met478Leu) c.1969A>C (p.Met657Leu) c.1870A>C (p.Met624Leu) c.1741A>C (p.Met581Leu) c.1732A>C (p.Met578Leu) c.1537A>C (p.Met513Leu) | |
| 15 | g.50242386G>A | CA490313982 | HDC | c.1863C>T (p.Asp621=) c.1764C>T (p.Asp588=) n.1607C>T c.1626C>T (p.Asp542=) c.1431C>T (p.Asp477=) c.1968C>T (p.Asp656=) c.1869C>T (p.Asp623=) c.1740C>T (p.Asp580=) c.1731C>T (p.Asp577=) c.1536C>T (p.Asp512=) | gnomAD v4 |
| 15 | g.50242386G>C | CA392376913 | HDC | c.1863C>G (p.Asp621Glu) c.1764C>G (p.Asp588Glu) n.1607C>G c.1626C>G (p.Asp542Glu) c.1431C>G (p.Asp477Glu) c.1968C>G (p.Asp656Glu) c.1869C>G (p.Asp623Glu) c.1740C>G (p.Asp580Glu) c.1731C>G (p.Asp577Glu) c.1536C>G (p.Asp512Glu) | dbSNP |
| 15 | g.50242386G>T | CA392376914 | HDC | c.1863C>A (p.Asp621Glu) c.1764C>A (p.Asp588Glu) n.1607C>A c.1626C>A (p.Asp542Glu) c.1431C>A (p.Asp477Glu) c.1968C>A (p.Asp656Glu) c.1869C>A (p.Asp623Glu) c.1740C>A (p.Asp580Glu) c.1731C>A (p.Asp577Glu) c.1536C>A (p.Asp512Glu) | |
| 15 | g.50242387T>A | CA392376917 | HDC | c.1862A>T (p.Asp621Val) c.1763A>T (p.Asp588Val) n.1606A>T c.1625A>T (p.Asp542Val) c.1430A>T (p.Asp477Val) c.1967A>T (p.Asp656Val) c.1868A>T (p.Asp623Val) c.1739A>T (p.Asp580Val) c.1730A>T (p.Asp577Val) c.1535A>T (p.Asp512Val) | |
| 15 | g.50242387T>C | CA392376915 | HDC | c.1862A>G (p.Asp621Gly) c.1763A>G (p.Asp588Gly) n.1606A>G c.1625A>G (p.Asp542Gly) c.1430A>G (p.Asp477Gly) c.1967A>G (p.Asp656Gly) c.1868A>G (p.Asp623Gly) c.1739A>G (p.Asp580Gly) c.1730A>G (p.Asp577Gly) c.1535A>G (p.Asp512Gly) | |
| 15 | g.50242387T>G | CA392376916 | HDC | c.1862A>C (p.Asp621Ala) c.1763A>C (p.Asp588Ala) n.1606A>C c.1625A>C (p.Asp542Ala) c.1430A>C (p.Asp477Ala) c.1967A>C (p.Asp656Ala) c.1868A>C (p.Asp623Ala) c.1739A>C (p.Asp580Ala) c.1730A>C (p.Asp577Ala) c.1535A>C (p.Asp512Ala) | |
| 15 | g.50242388C>A | CA392376918 | HDC | c.1861G>T (p.Asp621Tyr) c.1762G>T (p.Asp588Tyr) n.1605G>T c.1624G>T (p.Asp542Tyr) c.1429G>T (p.Asp477Tyr) c.1966G>T (p.Asp656Tyr) c.1867G>T (p.Asp623Tyr) c.1738G>T (p.Asp580Tyr) c.1729G>T (p.Asp577Tyr) c.1534G>T (p.Asp512Tyr) | |
| 15 | g.50242388C>G | CA392376919 | HDC | c.1861G>C (p.Asp621His) c.1762G>C (p.Asp588His) n.1605G>C c.1624G>C (p.Asp542His) c.1429G>C (p.Asp477His) c.1966G>C (p.Asp656His) c.1867G>C (p.Asp623His) c.1738G>C (p.Asp580His) c.1729G>C (p.Asp577His) c.1534G>C (p.Asp512His) | gnomAD v4 |
| 15 | g.50242388C>T | CA392376920 | HDC | c.1861G>A (p.Asp621Asn) c.1762G>A (p.Asp588Asn) n.1605G>A c.1624G>A (p.Asp542Asn) c.1429G>A (p.Asp477Asn) c.1966G>A (p.Asp656Asn) c.1867G>A (p.Asp623Asn) c.1738G>A (p.Asp580Asn) c.1729G>A (p.Asp577Asn) c.1534G>A (p.Asp512Asn) | |
| 15 | g.50242389T>A | CA392376921 | HDC | c.1860A>T (p.Glu620Asp) c.1761A>T (p.Glu587Asp) n.1604A>T c.1623A>T (p.Glu541Asp) c.1428A>T (p.Glu476Asp) c.1965A>T (p.Glu655Asp) c.1866A>T (p.Glu622Asp) c.1737A>T (p.Glu579Asp) c.1728A>T (p.Glu576Asp) c.1533A>T (p.Glu511Asp) | |
| 15 | g.50242389T>C | CA490313985 | HDC | c.1860A>G (p.Glu620=) c.1761A>G (p.Glu587=) n.1604A>G c.1623A>G (p.Glu541=) c.1428A>G (p.Glu476=) c.1965A>G (p.Glu655=) c.1866A>G (p.Glu622=) c.1737A>G (p.Glu579=) c.1728A>G (p.Glu576=) c.1533A>G (p.Glu511=) | |
| 15 | g.50242389T>G | CA392376922 | HDC | c.1860A>C (p.Glu620Asp) c.1761A>C (p.Glu587Asp) n.1604A>C c.1623A>C (p.Glu541Asp) c.1428A>C (p.Glu476Asp) c.1965A>C (p.Glu655Asp) c.1866A>C (p.Glu622Asp) c.1737A>C (p.Glu579Asp) c.1728A>C (p.Glu576Asp) c.1533A>C (p.Glu511Asp) | |
| 15 | g.50242390T>A | CA392376925 | HDC | c.1859A>T (p.Glu620Val) c.1760A>T (p.Glu587Val) n.1603A>T c.1622A>T (p.Glu541Val) c.1427A>T (p.Glu476Val) c.1964A>T (p.Glu655Val) c.1865A>T (p.Glu622Val) c.1736A>T (p.Glu579Val) c.1727A>T (p.Glu576Val) c.1532A>T (p.Glu511Val) | |
| 15 | g.50242390T>C | CA392376924 | HDC | c.1859A>G (p.Glu620Gly) c.1760A>G (p.Glu587Gly) n.1603A>G c.1622A>G (p.Glu541Gly) c.1427A>G (p.Glu476Gly) c.1964A>G (p.Glu655Gly) c.1865A>G (p.Glu622Gly) c.1736A>G (p.Glu579Gly) c.1727A>G (p.Glu576Gly) c.1532A>G (p.Glu511Gly) | |
| 15 | g.50242390T>G | CA392376923 | HDC | c.1859A>C (p.Glu620Ala) c.1760A>C (p.Glu587Ala) n.1603A>C c.1622A>C (p.Glu541Ala) c.1427A>C (p.Glu476Ala) c.1964A>C (p.Glu655Ala) c.1865A>C (p.Glu622Ala) c.1736A>C (p.Glu579Ala) c.1727A>C (p.Glu576Ala) c.1532A>C (p.Glu511Ala) | |
| 15 | g.50242391C>A | CA392376926 | HDC | c.1858G>T (p.Glu620Ter) c.1759G>T (p.Glu587Ter) n.1602G>T c.1621G>T (p.Glu541Ter) c.1426G>T (p.Glu476Ter) c.1963G>T (p.Glu655Ter) c.1864G>T (p.Glu622Ter) c.1735G>T (p.Glu579Ter) c.1726G>T (p.Glu576Ter) c.1531G>T (p.Glu511Ter) | |
| 15 | g.50242391C>G | CA392376928 | HDC | c.1858G>C (p.Glu620Gln) c.1759G>C (p.Glu587Gln) n.1602G>C c.1621G>C (p.Glu541Gln) c.1426G>C (p.Glu476Gln) c.1963G>C (p.Glu655Gln) c.1864G>C (p.Glu622Gln) c.1735G>C (p.Glu579Gln) c.1726G>C (p.Glu576Gln) c.1531G>C (p.Glu511Gln) | |
| 15 | g.50242391C>T | CA392376927 | HDC | c.1858G>A (p.Glu620Lys) c.1759G>A (p.Glu587Lys) n.1602G>A c.1621G>A (p.Glu541Lys) c.1426G>A (p.Glu476Lys) c.1963G>A (p.Glu655Lys) c.1864G>A (p.Glu622Lys) c.1735G>A (p.Glu579Lys) c.1726G>A (p.Glu576Lys) c.1531G>A (p.Glu511Lys) | |
| 15 | g.50242392T>A | CA490313989 | HDC | c.1857A>T (p.Pro619=) c.1758A>T (p.Pro586=) n.1601A>T c.1620A>T (p.Pro540=) c.1425A>T (p.Pro475=) c.1962A>T (p.Pro654=) c.1863A>T (p.Pro621=) c.1734A>T (p.Pro578=) c.1725A>T (p.Pro575=) c.1530A>T (p.Pro510=) | |
| 15 | g.50242392T>C | CA490313990 | HDC | c.1857A>G (p.Pro619=) c.1758A>G (p.Pro586=) n.1601A>G c.1620A>G (p.Pro540=) c.1425A>G (p.Pro475=) c.1962A>G (p.Pro654=) c.1863A>G (p.Pro621=) c.1734A>G (p.Pro578=) c.1725A>G (p.Pro575=) c.1530A>G (p.Pro510=) | |
| 15 | g.50242392T>G | CA490313991 | HDC | c.1857A>C (p.Pro619=) c.1758A>C (p.Pro586=) n.1601A>C c.1620A>C (p.Pro540=) c.1425A>C (p.Pro475=) c.1962A>C (p.Pro654=) c.1863A>C (p.Pro621=) c.1734A>C (p.Pro578=) c.1725A>C (p.Pro575=) c.1530A>C (p.Pro510=) | |
| 15 | g.50242393G>A | CA392376929 | HDC | c.1856C>T (p.Pro619Leu) c.1757C>T (p.Pro586Leu) n.1600C>T c.1619C>T (p.Pro540Leu) c.1424C>T (p.Pro475Leu) c.1961C>T (p.Pro654Leu) c.1862C>T (p.Pro621Leu) c.1733C>T (p.Pro578Leu) c.1724C>T (p.Pro575Leu) c.1529C>T (p.Pro510Leu) | |
| 15 | g.50242393G>C | CA392376930 | HDC | c.1856C>G (p.Pro619Arg) c.1757C>G (p.Pro586Arg) n.1600C>G c.1619C>G (p.Pro540Arg) c.1424C>G (p.Pro475Arg) c.1961C>G (p.Pro654Arg) c.1862C>G (p.Pro621Arg) c.1733C>G (p.Pro578Arg) c.1724C>G (p.Pro575Arg) c.1529C>G (p.Pro510Arg) | |
| 15 | g.50242393G>T | CA392376931 | HDC | c.1856C>A (p.Pro619Gln) c.1757C>A (p.Pro586Gln) n.1600C>A c.1619C>A (p.Pro540Gln) c.1424C>A (p.Pro475Gln) c.1961C>A (p.Pro654Gln) c.1862C>A (p.Pro621Gln) c.1733C>A (p.Pro578Gln) c.1724C>A (p.Pro575Gln) c.1529C>A (p.Pro510Gln) | |
| 15 | g.50242394G>A | CA392376932 | HDC | c.1855C>T (p.Pro619Ser) c.1756C>T (p.Pro586Ser) n.1599C>T c.1618C>T (p.Pro540Ser) c.1423C>T (p.Pro475Ser) c.1960C>T (p.Pro654Ser) c.1861C>T (p.Pro621Ser) c.1732C>T (p.Pro578Ser) c.1723C>T (p.Pro575Ser) c.1528C>T (p.Pro510Ser) | |
| 15 | g.50242394G>C | CA392376933 | HDC | c.1855C>G (p.Pro619Ala) c.1756C>G (p.Pro586Ala) n.1599C>G c.1618C>G (p.Pro540Ala) c.1423C>G (p.Pro475Ala) c.1960C>G (p.Pro654Ala) c.1861C>G (p.Pro621Ala) c.1732C>G (p.Pro578Ala) c.1723C>G (p.Pro575Ala) c.1528C>G (p.Pro510Ala) | |
| 15 | g.50242394G>T | CA392376934 | HDC | c.1855C>A (p.Pro619Thr) c.1756C>A (p.Pro586Thr) n.1599C>A c.1618C>A (p.Pro540Thr) c.1423C>A (p.Pro475Thr) c.1960C>A (p.Pro654Thr) c.1861C>A (p.Pro621Thr) c.1732C>A (p.Pro578Thr) c.1723C>A (p.Pro575Thr) c.1528C>A (p.Pro510Thr) | |
| 15 | g.50242395A>C | CA392376935 | HDC | c.1854T>G (p.Phe618Leu) c.1755T>G (p.Phe585Leu) n.1598T>G c.1617T>G (p.Phe539Leu) c.1422T>G (p.Phe474Leu) c.1959T>G (p.Phe653Leu) c.1860T>G (p.Phe620Leu) c.1731T>G (p.Phe577Leu) c.1722T>G (p.Phe574Leu) c.1527T>G (p.Phe509Leu) | |
| 15 | g.50242395A>G | CA490313995 | HDC | c.1854T>C (p.Phe618=) c.1755T>C (p.Phe585=) n.1598T>C c.1617T>C (p.Phe539=) c.1422T>C (p.Phe474=) c.1959T>C (p.Phe653=) c.1860T>C (p.Phe620=) c.1731T>C (p.Phe577=) c.1722T>C (p.Phe574=) c.1527T>C (p.Phe509=) | |
| 15 | g.50242395A>T | CA392376936 | HDC | c.1854T>A (p.Phe618Leu) c.1755T>A (p.Phe585Leu) n.1598T>A c.1617T>A (p.Phe539Leu) c.1422T>A (p.Phe474Leu) c.1959T>A (p.Phe653Leu) c.1860T>A (p.Phe620Leu) c.1731T>A (p.Phe577Leu) c.1722T>A (p.Phe574Leu) c.1527T>A (p.Phe509Leu) | |
| 15 | g.50242396A>C | CA392376937 | HDC | c.1853T>G (p.Phe618Cys) c.1754T>G (p.Phe585Cys) n.1597T>G c.1616T>G (p.Phe539Cys) c.1421T>G (p.Phe474Cys) c.1958T>G (p.Phe653Cys) c.1859T>G (p.Phe620Cys) c.1730T>G (p.Phe577Cys) c.1721T>G (p.Phe574Cys) c.1526T>G (p.Phe509Cys) | |
| 15 | g.50242396A>G | CA392376938 | HDC | c.1853T>C (p.Phe618Ser) c.1754T>C (p.Phe585Ser) n.1597T>C c.1616T>C (p.Phe539Ser) c.1421T>C (p.Phe474Ser) c.1958T>C (p.Phe653Ser) c.1859T>C (p.Phe620Ser) c.1730T>C (p.Phe577Ser) c.1721T>C (p.Phe574Ser) c.1526T>C (p.Phe509Ser) | |
| 15 | g.50242396A>T | CA392376939 | HDC | c.1853T>A (p.Phe618Tyr) c.1754T>A (p.Phe585Tyr) n.1597T>A c.1616T>A (p.Phe539Tyr) c.1421T>A (p.Phe474Tyr) c.1958T>A (p.Phe653Tyr) c.1859T>A (p.Phe620Tyr) c.1730T>A (p.Phe577Tyr) c.1721T>A (p.Phe574Tyr) c.1526T>A (p.Phe509Tyr) | |
| 15 | g.50242397A>C | CA392376942 | HDC | c.1852T>G (p.Phe618Val) c.1753T>G (p.Phe585Val) n.1596T>G c.1615T>G (p.Phe539Val) c.1420T>G (p.Phe474Val) c.1957T>G (p.Phe653Val) c.1858T>G (p.Phe620Val) c.1729T>G (p.Phe577Val) c.1720T>G (p.Phe574Val) c.1525T>G (p.Phe509Val) | |
| 15 | g.50242397A>G | CA392376941 | HDC | c.1852T>C (p.Phe618Leu) c.1753T>C (p.Phe585Leu) n.1596T>C c.1615T>C (p.Phe539Leu) c.1420T>C (p.Phe474Leu) c.1957T>C (p.Phe653Leu) c.1858T>C (p.Phe620Leu) c.1729T>C (p.Phe577Leu) c.1720T>C (p.Phe574Leu) c.1525T>C (p.Phe509Leu) | |
| 15 | g.50242397A>T | CA392376940 | HDC | c.1852T>A (p.Phe618Ile) c.1753T>A (p.Phe585Ile) n.1596T>A c.1615T>A (p.Phe539Ile) c.1420T>A (p.Phe474Ile) c.1957T>A (p.Phe653Ile) c.1858T>A (p.Phe620Ile) c.1729T>A (p.Phe577Ile) c.1720T>A (p.Phe574Ile) c.1525T>A (p.Phe509Ile) |