| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.50242429C>A | CA392377002 | HDC | c.1820G>T (p.Gly607Val) c.1721G>T (p.Gly574Val) n.1564G>T c.1583G>T (p.Gly528Val) c.1388G>T (p.Gly463Val) c.1925G>T (p.Gly642Val) c.1826G>T (p.Gly609Val) c.1697G>T (p.Gly566Val) c.1688G>T (p.Gly563Val) c.1493G>T (p.Gly498Val) | |
| 15 | g.50242429C>G | CA392377003 | HDC | c.1820G>C (p.Gly607Ala) c.1721G>C (p.Gly574Ala) n.1564G>C c.1583G>C (p.Gly528Ala) c.1388G>C (p.Gly463Ala) c.1925G>C (p.Gly642Ala) c.1826G>C (p.Gly609Ala) c.1697G>C (p.Gly566Ala) c.1688G>C (p.Gly563Ala) c.1493G>C (p.Gly498Ala) | gnomAD v4 |
| 15 | g.50242429C>T | CA392377004 | HDC | c.1820G>A (p.Gly607Glu) c.1721G>A (p.Gly574Glu) n.1564G>A c.1583G>A (p.Gly528Glu) c.1388G>A (p.Gly463Glu) c.1925G>A (p.Gly642Glu) c.1826G>A (p.Gly609Glu) c.1697G>A (p.Gly566Glu) c.1688G>A (p.Gly563Glu) c.1493G>A (p.Gly498Glu) | |
| 15 | g.50242430C>A | CA392377007 | HDC | c.1819G>T (p.Gly607Trp) c.1720G>T (p.Gly574Trp) n.1563G>T c.1582G>T (p.Gly528Trp) c.1387G>T (p.Gly463Trp) c.1924G>T (p.Gly642Trp) c.1825G>T (p.Gly609Trp) c.1696G>T (p.Gly566Trp) c.1687G>T (p.Gly563Trp) c.1492G>T (p.Gly498Trp) | |
| 15 | g.50242430C>G | CA392377005 | HDC | c.1819G>C (p.Gly607Arg) c.1720G>C (p.Gly574Arg) n.1563G>C c.1582G>C (p.Gly528Arg) c.1387G>C (p.Gly463Arg) c.1924G>C (p.Gly642Arg) c.1825G>C (p.Gly609Arg) c.1696G>C (p.Gly566Arg) c.1687G>C (p.Gly563Arg) c.1492G>C (p.Gly498Arg) | |
| 15 | g.50242430C>T | CA392377006 | HDC | c.1819G>A (p.Gly607Arg) c.1720G>A (p.Gly574Arg) n.1563G>A c.1582G>A (p.Gly528Arg) c.1387G>A (p.Gly463Arg) c.1924G>A (p.Gly642Arg) c.1825G>A (p.Gly609Arg) c.1696G>A (p.Gly566Arg) c.1687G>A (p.Gly563Arg) c.1492G>A (p.Gly498Arg) | |
| 15 | g.50242431A= | CA2176326592 | HDC | c.1818T= (p.Asn606=) c.1719T= (p.Asn573=) n.1562T= c.1581T= (p.Asn527=) c.1386T= (p.Asn462=) c.1923T= (p.Asn641=) c.1824T= (p.Asn608=) c.1695T= (p.Asn565=) c.1686T= (p.Asn562=) c.1491T= (p.Asn497=) | |
| 15 | g.50242431A>C | CA392377008 | HDC | c.1818T>G (p.Asn606Lys) c.1719T>G (p.Asn573Lys) n.1562T>G c.1581T>G (p.Asn527Lys) c.1386T>G (p.Asn462Lys) c.1923T>G (p.Asn641Lys) c.1824T>G (p.Asn608Lys) c.1695T>G (p.Asn565Lys) c.1686T>G (p.Asn562Lys) c.1491T>G (p.Asn497Lys) | |
| 15 | g.50242431A>G | CA270413877 | HDC | c.1818T>C (p.Asn606=) c.1719T>C (p.Asn573=) n.1562T>C c.1581T>C (p.Asn527=) c.1386T>C (p.Asn462=) c.1923T>C (p.Asn641=) c.1824T>C (p.Asn608=) c.1695T>C (p.Asn565=) c.1686T>C (p.Asn562=) c.1491T>C (p.Asn497=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.50242431A>T | CA392377009 | HDC | c.1818T>A (p.Asn606Lys) c.1719T>A (p.Asn573Lys) n.1562T>A c.1581T>A (p.Asn527Lys) c.1386T>A (p.Asn462Lys) c.1923T>A (p.Asn641Lys) c.1824T>A (p.Asn608Lys) c.1695T>A (p.Asn565Lys) c.1686T>A (p.Asn562Lys) c.1491T>A (p.Asn497Lys) | |
| 15 | g.50242432T>A | CA392377010 | HDC | c.1817A>T (p.Asn606Ile) c.1718A>T (p.Asn573Ile) n.1561A>T c.1580A>T (p.Asn527Ile) c.1385A>T (p.Asn462Ile) c.1922A>T (p.Asn641Ile) c.1823A>T (p.Asn608Ile) c.1694A>T (p.Asn565Ile) c.1685A>T (p.Asn562Ile) c.1490A>T (p.Asn497Ile) | |
| 15 | g.50242432T>C | CA392377011 | HDC | c.1817A>G (p.Asn606Ser) c.1718A>G (p.Asn573Ser) n.1561A>G c.1580A>G (p.Asn527Ser) c.1385A>G (p.Asn462Ser) c.1922A>G (p.Asn641Ser) c.1823A>G (p.Asn608Ser) c.1694A>G (p.Asn565Ser) c.1685A>G (p.Asn562Ser) c.1490A>G (p.Asn497Ser) | |
| 15 | g.50242432T>G | CA392377012 | HDC | c.1817A>C (p.Asn606Thr) c.1718A>C (p.Asn573Thr) n.1561A>C c.1580A>C (p.Asn527Thr) c.1385A>C (p.Asn462Thr) c.1922A>C (p.Asn641Thr) c.1823A>C (p.Asn608Thr) c.1694A>C (p.Asn565Thr) c.1685A>C (p.Asn562Thr) c.1490A>C (p.Asn497Thr) | |
| 15 | g.50242433T>A | CA392377013 | HDC | c.1816A>T (p.Asn606Tyr) c.1717A>T (p.Asn573Tyr) n.1560A>T c.1579A>T (p.Asn527Tyr) c.1384A>T (p.Asn462Tyr) c.1921A>T (p.Asn641Tyr) c.1822A>T (p.Asn608Tyr) c.1693A>T (p.Asn565Tyr) c.1684A>T (p.Asn562Tyr) c.1489A>T (p.Asn497Tyr) | |
| 15 | g.50242433T>C | CA392377015 | HDC | c.1816A>G (p.Asn606Asp) c.1717A>G (p.Asn573Asp) n.1560A>G c.1579A>G (p.Asn527Asp) c.1384A>G (p.Asn462Asp) c.1921A>G (p.Asn641Asp) c.1822A>G (p.Asn608Asp) c.1693A>G (p.Asn565Asp) c.1684A>G (p.Asn562Asp) c.1489A>G (p.Asn497Asp) | |
| 15 | g.50242433T>G | CA392377014 | HDC | c.1816A>C (p.Asn606His) c.1717A>C (p.Asn573His) n.1560A>C c.1579A>C (p.Asn527His) c.1384A>C (p.Asn462His) c.1921A>C (p.Asn641His) c.1822A>C (p.Asn608His) c.1693A>C (p.Asn565His) c.1684A>C (p.Asn562His) c.1489A>C (p.Asn497His) | |
| 15 | g.50242434C>A | CA392377016 | HDC | c.1815G>T (p.Lys605Asn) c.1716G>T (p.Lys572Asn) n.1559G>T c.1578G>T (p.Lys526Asn) c.1383G>T (p.Lys461Asn) c.1920G>T (p.Lys640Asn) c.1821G>T (p.Lys607Asn) c.1692G>T (p.Lys564Asn) c.1683G>T (p.Lys561Asn) c.1488G>T (p.Lys496Asn) | |
| 15 | g.50242434C>G | CA392377017 | HDC | c.1815G>C (p.Lys605Asn) c.1716G>C (p.Lys572Asn) n.1559G>C c.1578G>C (p.Lys526Asn) c.1383G>C (p.Lys461Asn) c.1920G>C (p.Lys640Asn) c.1821G>C (p.Lys607Asn) c.1692G>C (p.Lys564Asn) c.1683G>C (p.Lys561Asn) c.1488G>C (p.Lys496Asn) | COSMIC |
| 15 | g.50242434C>T | CA490314043 | HDC | c.1815G>A (p.Lys605=) c.1716G>A (p.Lys572=) n.1559G>A c.1578G>A (p.Lys526=) c.1383G>A (p.Lys461=) c.1920G>A (p.Lys640=) c.1821G>A (p.Lys607=) c.1692G>A (p.Lys564=) c.1683G>A (p.Lys561=) c.1488G>A (p.Lys496=) | |
| 15 | g.50242435T>A | CA392377018 | HDC | c.1814A>T (p.Lys605Met) c.1715A>T (p.Lys572Met) n.1558A>T c.1577A>T (p.Lys526Met) c.1382A>T (p.Lys461Met) c.1919A>T (p.Lys640Met) c.1820A>T (p.Lys607Met) c.1691A>T (p.Lys564Met) c.1682A>T (p.Lys561Met) c.1487A>T (p.Lys496Met) | |
| 15 | g.50242435T>C | CA392377019 | HDC | c.1814A>G (p.Lys605Arg) c.1715A>G (p.Lys572Arg) n.1558A>G c.1577A>G (p.Lys526Arg) c.1382A>G (p.Lys461Arg) c.1919A>G (p.Lys640Arg) c.1820A>G (p.Lys607Arg) c.1691A>G (p.Lys564Arg) c.1682A>G (p.Lys561Arg) c.1487A>G (p.Lys496Arg) | |
| 15 | g.50242435T>G | CA392377020 | HDC | c.1814A>C (p.Lys605Thr) c.1715A>C (p.Lys572Thr) n.1558A>C c.1577A>C (p.Lys526Thr) c.1382A>C (p.Lys461Thr) c.1919A>C (p.Lys640Thr) c.1820A>C (p.Lys607Thr) c.1691A>C (p.Lys564Thr) c.1682A>C (p.Lys561Thr) c.1487A>C (p.Lys496Thr) | |
| 15 | g.50242436T>A | CA392377023 | HDC | c.1813A>T (p.Lys605Ter) c.1714A>T (p.Lys572Ter) n.1557A>T c.1576A>T (p.Lys526Ter) c.1381A>T (p.Lys461Ter) c.1918A>T (p.Lys640Ter) c.1819A>T (p.Lys607Ter) c.1690A>T (p.Lys564Ter) c.1681A>T (p.Lys561Ter) c.1486A>T (p.Lys496Ter) | |
| 15 | g.50242436T>C | CA392377022 | HDC | c.1813A>G (p.Lys605Glu) c.1714A>G (p.Lys572Glu) n.1557A>G c.1576A>G (p.Lys526Glu) c.1381A>G (p.Lys461Glu) c.1918A>G (p.Lys640Glu) c.1819A>G (p.Lys607Glu) c.1690A>G (p.Lys564Glu) c.1681A>G (p.Lys561Glu) c.1486A>G (p.Lys496Glu) | |
| 15 | g.50242436T>G | CA392377021 | HDC | c.1813A>C (p.Lys605Gln) c.1714A>C (p.Lys572Gln) n.1557A>C c.1576A>C (p.Lys526Gln) c.1381A>C (p.Lys461Gln) c.1918A>C (p.Lys640Gln) c.1819A>C (p.Lys607Gln) c.1690A>C (p.Lys564Gln) c.1681A>C (p.Lys561Gln) c.1486A>C (p.Lys496Gln) | |
| 15 | g.50242437C>A | CA490314048 | HDC | c.1812G>T (p.Val604=) c.1713G>T (p.Val571=) n.1556G>T c.1575G>T (p.Val525=) c.1380G>T (p.Val460=) c.1917G>T (p.Val639=) c.1818G>T (p.Val606=) c.1689G>T (p.Val563=) c.1680G>T (p.Val560=) c.1485G>T (p.Val495=) | |
| 15 | g.50242437C= | CA2176326593 | HDC | c.1812G= (p.Val604=) c.1713G= (p.Val571=) n.1556G= c.1575G= (p.Val525=) c.1380G= (p.Val460=) c.1917G= (p.Val639=) c.1818G= (p.Val606=) c.1689G= (p.Val563=) c.1680G= (p.Val560=) c.1485G= (p.Val495=) | |
| 15 | g.50242437C>G | CA490314049 | HDC | c.1812G>C (p.Val604=) c.1713G>C (p.Val571=) n.1556G>C c.1575G>C (p.Val525=) c.1380G>C (p.Val460=) c.1917G>C (p.Val639=) c.1818G>C (p.Val606=) c.1689G>C (p.Val563=) c.1680G>C (p.Val560=) c.1485G>C (p.Val495=) | |
| 15 | g.50242437C>T | CA490314050 | HDC | c.1812G>A (p.Val604=) c.1713G>A (p.Val571=) n.1556G>A c.1575G>A (p.Val525=) c.1380G>A (p.Val460=) c.1917G>A (p.Val639=) c.1818G>A (p.Val606=) c.1689G>A (p.Val563=) c.1680G>A (p.Val560=) c.1485G>A (p.Val495=) | dbSNP |
| 15 | g.50242438A>C | CA392377024 | HDC | c.1811T>G (p.Val604Gly) c.1712T>G (p.Val571Gly) n.1555T>G c.1574T>G (p.Val525Gly) c.1379T>G (p.Val460Gly) c.1916T>G (p.Val639Gly) c.1817T>G (p.Val606Gly) c.1688T>G (p.Val563Gly) c.1679T>G (p.Val560Gly) c.1484T>G (p.Val495Gly) | |
| 15 | g.50242438A>G | CA392377025 | HDC | c.1811T>C (p.Val604Ala) c.1712T>C (p.Val571Ala) n.1555T>C c.1574T>C (p.Val525Ala) c.1379T>C (p.Val460Ala) c.1916T>C (p.Val639Ala) c.1817T>C (p.Val606Ala) c.1688T>C (p.Val563Ala) c.1679T>C (p.Val560Ala) c.1484T>C (p.Val495Ala) | |
| 15 | g.50242438A>T | CA392377026 | HDC | c.1811T>A (p.Val604Glu) c.1712T>A (p.Val571Glu) n.1555T>A c.1574T>A (p.Val525Glu) c.1379T>A (p.Val460Glu) c.1916T>A (p.Val639Glu) c.1817T>A (p.Val606Glu) c.1688T>A (p.Val563Glu) c.1679T>A (p.Val560Glu) c.1484T>A (p.Val495Glu) | |
| 15 | g.50242439C>A | CA392377027 | HDC | c.1810G>T (p.Val604Leu) c.1711G>T (p.Val571Leu) n.1554G>T c.1573G>T (p.Val525Leu) c.1378G>T (p.Val460Leu) c.1915G>T (p.Val639Leu) c.1816G>T (p.Val606Leu) c.1687G>T (p.Val563Leu) c.1678G>T (p.Val560Leu) c.1483G>T (p.Val495Leu) | |
| 15 | g.50242439C>G | CA392377028 | HDC | c.1810G>C (p.Val604Leu) c.1711G>C (p.Val571Leu) n.1554G>C c.1573G>C (p.Val525Leu) c.1378G>C (p.Val460Leu) c.1915G>C (p.Val639Leu) c.1816G>C (p.Val606Leu) c.1687G>C (p.Val563Leu) c.1678G>C (p.Val560Leu) c.1483G>C (p.Val495Leu) | |
| 15 | g.50242439C>T | CA392377029 | HDC | c.1810G>A (p.Val604Met) c.1711G>A (p.Val571Met) n.1554G>A c.1573G>A (p.Val525Met) c.1378G>A (p.Val460Met) c.1915G>A (p.Val639Met) c.1816G>A (p.Val606Met) c.1687G>A (p.Val563Met) c.1678G>A (p.Val560Met) c.1483G>A (p.Val495Met) | |
| 15 | g.50242440A= | CA2176326594 | HDC | c.1809T= (p.Ser603=) c.1710T= (p.Ser570=) n.1553T= c.1572T= (p.Ser524=) c.1377T= (p.Ser459=) c.1914T= (p.Ser638=) c.1815T= (p.Ser605=) c.1686T= (p.Ser562=) c.1677T= (p.Ser559=) c.1482T= (p.Ser494=) | |
| 15 | g.50242440A>C | CA490314054 | HDC | c.1809T>G (p.Ser603=) c.1710T>G (p.Ser570=) n.1553T>G c.1572T>G (p.Ser524=) c.1377T>G (p.Ser459=) c.1914T>G (p.Ser638=) c.1815T>G (p.Ser605=) c.1686T>G (p.Ser562=) c.1677T>G (p.Ser559=) c.1482T>G (p.Ser494=) | |
| 15 | g.50242440A>G | CA490314055 | HDC | c.1809T>C (p.Ser603=) c.1710T>C (p.Ser570=) n.1553T>C c.1572T>C (p.Ser524=) c.1377T>C (p.Ser459=) c.1914T>C (p.Ser638=) c.1815T>C (p.Ser605=) c.1686T>C (p.Ser562=) c.1677T>C (p.Ser559=) c.1482T>C (p.Ser494=) | dbSNP |
| 15 | g.50242440A>T | CA490314057 | HDC | c.1809T>A (p.Ser603=) c.1710T>A (p.Ser570=) n.1553T>A c.1572T>A (p.Ser524=) c.1377T>A (p.Ser459=) c.1914T>A (p.Ser638=) c.1815T>A (p.Ser605=) c.1686T>A (p.Ser562=) c.1677T>A (p.Ser559=) c.1482T>A (p.Ser494=) | |
| 15 | g.50242441G>A | CA392377030 | HDC | c.1808C>T (p.Ser603Phe) c.1709C>T (p.Ser570Phe) n.1552C>T c.1571C>T (p.Ser524Phe) c.1376C>T (p.Ser459Phe) c.1913C>T (p.Ser638Phe) c.1814C>T (p.Ser605Phe) c.1685C>T (p.Ser562Phe) c.1676C>T (p.Ser559Phe) c.1481C>T (p.Ser494Phe) | |
| 15 | g.50242441G>C | CA392377032 | HDC | c.1808C>G (p.Ser603Cys) c.1709C>G (p.Ser570Cys) n.1552C>G c.1571C>G (p.Ser524Cys) c.1376C>G (p.Ser459Cys) c.1913C>G (p.Ser638Cys) c.1814C>G (p.Ser605Cys) c.1685C>G (p.Ser562Cys) c.1676C>G (p.Ser559Cys) c.1481C>G (p.Ser494Cys) | |
| 15 | g.50242441G>T | CA392377031 | HDC | c.1808C>A (p.Ser603Tyr) c.1709C>A (p.Ser570Tyr) n.1552C>A c.1571C>A (p.Ser524Tyr) c.1376C>A (p.Ser459Tyr) c.1913C>A (p.Ser638Tyr) c.1814C>A (p.Ser605Tyr) c.1685C>A (p.Ser562Tyr) c.1676C>A (p.Ser559Tyr) c.1481C>A (p.Ser494Tyr) | |
| 15 | g.50242442A>C | CA392377033 | HDC | c.1807T>G (p.Ser603Ala) c.1708T>G (p.Ser570Ala) n.1551T>G c.1570T>G (p.Ser524Ala) c.1375T>G (p.Ser459Ala) c.1912T>G (p.Ser638Ala) c.1813T>G (p.Ser605Ala) c.1684T>G (p.Ser562Ala) c.1675T>G (p.Ser559Ala) c.1480T>G (p.Ser494Ala) | |
| 15 | g.50242442A>G | CA392377034 | HDC | c.1807T>C (p.Ser603Pro) c.1708T>C (p.Ser570Pro) n.1551T>C c.1570T>C (p.Ser524Pro) c.1375T>C (p.Ser459Pro) c.1912T>C (p.Ser638Pro) c.1813T>C (p.Ser605Pro) c.1684T>C (p.Ser562Pro) c.1675T>C (p.Ser559Pro) c.1480T>C (p.Ser494Pro) | |
| 15 | g.50242442A>T | CA392377035 | HDC | c.1807T>A (p.Ser603Thr) c.1708T>A (p.Ser570Thr) n.1551T>A c.1570T>A (p.Ser524Thr) c.1375T>A (p.Ser459Thr) c.1912T>A (p.Ser638Thr) c.1813T>A (p.Ser605Thr) c.1684T>A (p.Ser562Thr) c.1675T>A (p.Ser559Thr) c.1480T>A (p.Ser494Thr) | |
| 15 | g.50242443G>A | CA490314061 | HDC | c.1806C>T (p.Ala602=) c.1707C>T (p.Ala569=) n.1550C>T c.1569C>T (p.Ala523=) c.1374C>T (p.Ala458=) c.1911C>T (p.Ala637=) c.1812C>T (p.Ala604=) c.1683C>T (p.Ala561=) c.1674C>T (p.Ala558=) c.1479C>T (p.Ala493=) | |
| 15 | g.50242443G>C | CA490314062 | HDC | c.1806C>G (p.Ala602=) c.1707C>G (p.Ala569=) n.1550C>G c.1569C>G (p.Ala523=) c.1374C>G (p.Ala458=) c.1911C>G (p.Ala637=) c.1812C>G (p.Ala604=) c.1683C>G (p.Ala561=) c.1674C>G (p.Ala558=) c.1479C>G (p.Ala493=) | |
| 15 | g.50242443G>T | CA490314064 | HDC | c.1806C>A (p.Ala602=) c.1707C>A (p.Ala569=) n.1550C>A c.1569C>A (p.Ala523=) c.1374C>A (p.Ala458=) c.1911C>A (p.Ala637=) c.1812C>A (p.Ala604=) c.1683C>A (p.Ala561=) c.1674C>A (p.Ala558=) c.1479C>A (p.Ala493=) | |
| 15 | g.50242444G>A | CA270413881 | HDC | c.1805C>T (p.Ala602Val) c.1706C>T (p.Ala569Val) n.1549C>T c.1568C>T (p.Ala523Val) c.1373C>T (p.Ala458Val) c.1910C>T (p.Ala637Val) c.1811C>T (p.Ala604Val) c.1682C>T (p.Ala561Val) c.1673C>T (p.Ala558Val) c.1478C>T (p.Ala493Val) | dbSNP |
| 15 | g.50242444G>C | CA392377036 | HDC | c.1805C>G (p.Ala602Gly) c.1706C>G (p.Ala569Gly) n.1549C>G c.1568C>G (p.Ala523Gly) c.1373C>G (p.Ala458Gly) c.1910C>G (p.Ala637Gly) c.1811C>G (p.Ala604Gly) c.1682C>G (p.Ala561Gly) c.1673C>G (p.Ala558Gly) c.1478C>G (p.Ala493Gly) | |
| 15 | g.50242444G= | CA2176326595 | HDC | c.1805C= (p.Ala602=) c.1706C= (p.Ala569=) n.1549C= c.1568C= (p.Ala523=) c.1373C= (p.Ala458=) c.1910C= (p.Ala637=) c.1811C= (p.Ala604=) c.1682C= (p.Ala561=) c.1673C= (p.Ala558=) c.1478C= (p.Ala493=) | |
| 15 | g.50242444G>T | CA392377037 | HDC | c.1805C>A (p.Ala602Asp) c.1706C>A (p.Ala569Asp) n.1549C>A c.1568C>A (p.Ala523Asp) c.1373C>A (p.Ala458Asp) c.1910C>A (p.Ala637Asp) c.1811C>A (p.Ala604Asp) c.1682C>A (p.Ala561Asp) c.1673C>A (p.Ala558Asp) c.1478C>A (p.Ala493Asp) | |
| 15 | g.50242445C>A | CA392377038 | HDC | c.1804G>T (p.Ala602Ser) c.1705G>T (p.Ala569Ser) n.1548G>T c.1567G>T (p.Ala523Ser) c.1372G>T (p.Ala458Ser) c.1909G>T (p.Ala637Ser) c.1810G>T (p.Ala604Ser) c.1681G>T (p.Ala561Ser) c.1672G>T (p.Ala558Ser) c.1477G>T (p.Ala493Ser) | gnomAD v4 |
| 15 | g.50242445C>G | CA392377039 | HDC | c.1804G>C (p.Ala602Pro) c.1705G>C (p.Ala569Pro) n.1548G>C c.1567G>C (p.Ala523Pro) c.1372G>C (p.Ala458Pro) c.1909G>C (p.Ala637Pro) c.1810G>C (p.Ala604Pro) c.1681G>C (p.Ala561Pro) c.1672G>C (p.Ala558Pro) c.1477G>C (p.Ala493Pro) | |
| 15 | g.50242445C>T | CA392377040 | HDC | c.1804G>A (p.Ala602Thr) c.1705G>A (p.Ala569Thr) n.1548G>A c.1567G>A (p.Ala523Thr) c.1372G>A (p.Ala458Thr) c.1909G>A (p.Ala637Thr) c.1810G>A (p.Ala604Thr) c.1681G>A (p.Ala561Thr) c.1672G>A (p.Ala558Thr) c.1477G>A (p.Ala493Thr) | gnomAD v4 COSMIC |
| 15 | g.50242446C>A | CA392377041 | HDC | c.1803G>T (p.Glu601Asp) c.1704G>T (p.Glu568Asp) n.1547G>T c.1566G>T (p.Glu522Asp) c.1371G>T (p.Glu457Asp) c.1908G>T (p.Glu636Asp) c.1809G>T (p.Glu603Asp) c.1680G>T (p.Glu560Asp) c.1671G>T (p.Glu557Asp) c.1476G>T (p.Glu492Asp) | |
| 15 | g.50242446C>G | CA392377042 | HDC | c.1803G>C (p.Glu601Asp) c.1704G>C (p.Glu568Asp) n.1547G>C c.1566G>C (p.Glu522Asp) c.1371G>C (p.Glu457Asp) c.1908G>C (p.Glu636Asp) c.1809G>C (p.Glu603Asp) c.1680G>C (p.Glu560Asp) c.1671G>C (p.Glu557Asp) c.1476G>C (p.Glu492Asp) | |
| 15 | g.50242446C>T | CA490314072 | HDC | c.1803G>A (p.Glu601=) c.1704G>A (p.Glu568=) n.1547G>A c.1566G>A (p.Glu522=) c.1371G>A (p.Glu457=) c.1908G>A (p.Glu636=) c.1809G>A (p.Glu603=) c.1680G>A (p.Glu560=) c.1671G>A (p.Glu557=) c.1476G>A (p.Glu492=) | |
| 15 | g.50242447T>A | CA392377045 | HDC | c.1802A>T (p.Glu601Val) c.1703A>T (p.Glu568Val) n.1546A>T c.1565A>T (p.Glu522Val) c.1370A>T (p.Glu457Val) c.1907A>T (p.Glu636Val) c.1808A>T (p.Glu603Val) c.1679A>T (p.Glu560Val) c.1670A>T (p.Glu557Val) c.1475A>T (p.Glu492Val) | |
| 15 | g.50242447T>C | CA392377043 | HDC | c.1802A>G (p.Glu601Gly) c.1703A>G (p.Glu568Gly) n.1546A>G c.1565A>G (p.Glu522Gly) c.1370A>G (p.Glu457Gly) c.1907A>G (p.Glu636Gly) c.1808A>G (p.Glu603Gly) c.1679A>G (p.Glu560Gly) c.1670A>G (p.Glu557Gly) c.1475A>G (p.Glu492Gly) | |
| 15 | g.50242447T>G | CA392377044 | HDC | c.1802A>C (p.Glu601Ala) c.1703A>C (p.Glu568Ala) n.1546A>C c.1565A>C (p.Glu522Ala) c.1370A>C (p.Glu457Ala) c.1907A>C (p.Glu636Ala) c.1808A>C (p.Glu603Ala) c.1679A>C (p.Glu560Ala) c.1670A>C (p.Glu557Ala) c.1475A>C (p.Glu492Ala) | |
| 15 | g.50242448C>A | CA392377046 | HDC | c.1801G>T (p.Glu601Ter) c.1702G>T (p.Glu568Ter) n.1545G>T c.1564G>T (p.Glu522Ter) c.1369G>T (p.Glu457Ter) c.1906G>T (p.Glu636Ter) c.1807G>T (p.Glu603Ter) c.1678G>T (p.Glu560Ter) c.1669G>T (p.Glu557Ter) c.1474G>T (p.Glu492Ter) | |
| 15 | g.50242448C= | CA2176326596 | HDC | c.1801G= (p.Glu601=) c.1702G= (p.Glu568=) n.1545G= c.1564G= (p.Glu522=) c.1369G= (p.Glu457=) c.1906G= (p.Glu636=) c.1807G= (p.Glu603=) c.1678G= (p.Glu560=) c.1669G= (p.Glu557=) c.1474G= (p.Glu492=) | |
| 15 | g.50242448C>G | CA392377048 | HDC | c.1801G>C (p.Glu601Gln) c.1702G>C (p.Glu568Gln) n.1545G>C c.1564G>C (p.Glu522Gln) c.1369G>C (p.Glu457Gln) c.1906G>C (p.Glu636Gln) c.1807G>C (p.Glu603Gln) c.1678G>C (p.Glu560Gln) c.1669G>C (p.Glu557Gln) c.1474G>C (p.Glu492Gln) | |
| 15 | g.50242448C>T | CA392377047 | HDC | c.1801G>A (p.Glu601Lys) c.1702G>A (p.Glu568Lys) n.1545G>A c.1564G>A (p.Glu522Lys) c.1369G>A (p.Glu457Lys) c.1906G>A (p.Glu636Lys) c.1807G>A (p.Glu603Lys) c.1678G>A (p.Glu560Lys) c.1669G>A (p.Glu557Lys) c.1474G>A (p.Glu492Lys) | dbSNP |
| 15 | g.50242449T>A | CA490314078 | HDC | c.1800A>T (p.Thr600=) c.1701A>T (p.Thr567=) n.1544A>T c.1563A>T (p.Thr521=) c.1368A>T (p.Thr456=) c.1905A>T (p.Thr635=) c.1806A>T (p.Thr602=) c.1677A>T (p.Thr559=) c.1668A>T (p.Thr556=) c.1473A>T (p.Thr491=) | |
| 15 | g.50242449T>C | CA490314081 | HDC | c.1800A>G (p.Thr600=) c.1701A>G (p.Thr567=) n.1544A>G c.1563A>G (p.Thr521=) c.1368A>G (p.Thr456=) c.1905A>G (p.Thr635=) c.1806A>G (p.Thr602=) c.1677A>G (p.Thr559=) c.1668A>G (p.Thr556=) c.1473A>G (p.Thr491=) | |
| 15 | g.50242449T>G | CA490314080 | HDC | c.1800A>C (p.Thr600=) c.1701A>C (p.Thr567=) n.1544A>C c.1563A>C (p.Thr521=) c.1368A>C (p.Thr456=) c.1905A>C (p.Thr635=) c.1806A>C (p.Thr602=) c.1677A>C (p.Thr559=) c.1668A>C (p.Thr556=) c.1473A>C (p.Thr491=) | |
| 15 | g.50242450G>A | CA7554489 | HDC | c.1799C>T (p.Thr600Ile) c.1700C>T (p.Thr567Ile) n.1543C>T c.1562C>T (p.Thr521Ile) c.1367C>T (p.Thr456Ile) c.1904C>T (p.Thr635Ile) c.1805C>T (p.Thr602Ile) c.1676C>T (p.Thr559Ile) c.1667C>T (p.Thr556Ile) c.1472C>T (p.Thr491Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242450G>C | CA392377049 | HDC | c.1799C>G (p.Thr600Arg) c.1700C>G (p.Thr567Arg) n.1543C>G c.1562C>G (p.Thr521Arg) c.1367C>G (p.Thr456Arg) c.1904C>G (p.Thr635Arg) c.1805C>G (p.Thr602Arg) c.1676C>G (p.Thr559Arg) c.1667C>G (p.Thr556Arg) c.1472C>G (p.Thr491Arg) | |
| 15 | g.50242450G= | CA2176326597 | HDC | c.1799C= (p.Thr600=) c.1700C= (p.Thr567=) n.1543C= c.1562C= (p.Thr521=) c.1367C= (p.Thr456=) c.1904C= (p.Thr635=) c.1805C= (p.Thr602=) c.1676C= (p.Thr559=) c.1667C= (p.Thr556=) c.1472C= (p.Thr491=) | |
| 15 | g.50242450G>T | CA392377050 | HDC | c.1799C>A (p.Thr600Lys) c.1700C>A (p.Thr567Lys) n.1543C>A c.1562C>A (p.Thr521Lys) c.1367C>A (p.Thr456Lys) c.1904C>A (p.Thr635Lys) c.1805C>A (p.Thr602Lys) c.1676C>A (p.Thr559Lys) c.1667C>A (p.Thr556Lys) c.1472C>A (p.Thr491Lys) | |
| 15 | g.50242451T>A | CA392377051 | HDC | c.1798A>T (p.Thr600Ser) c.1699A>T (p.Thr567Ser) n.1542A>T c.1561A>T (p.Thr521Ser) c.1366A>T (p.Thr456Ser) c.1903A>T (p.Thr635Ser) c.1804A>T (p.Thr602Ser) c.1675A>T (p.Thr559Ser) c.1666A>T (p.Thr556Ser) c.1471A>T (p.Thr491Ser) | |
| 15 | g.50242451T>C | CA392377052 | HDC | c.1798A>G (p.Thr600Ala) c.1699A>G (p.Thr567Ala) n.1542A>G c.1561A>G (p.Thr521Ala) c.1366A>G (p.Thr456Ala) c.1903A>G (p.Thr635Ala) c.1804A>G (p.Thr602Ala) c.1675A>G (p.Thr559Ala) c.1666A>G (p.Thr556Ala) c.1471A>G (p.Thr491Ala) | |
| 15 | g.50242451T>G | CA392377053 | HDC | c.1798A>C (p.Thr600Pro) c.1699A>C (p.Thr567Pro) n.1542A>C c.1561A>C (p.Thr521Pro) c.1366A>C (p.Thr456Pro) c.1903A>C (p.Thr635Pro) c.1804A>C (p.Thr602Pro) c.1675A>C (p.Thr559Pro) c.1666A>C (p.Thr556Pro) c.1471A>C (p.Thr491Pro) | |
| 15 | g.50242452G>A | CA490314084 | HDC | c.1797C>T (p.Pro599=) c.1698C>T (p.Pro566=) n.1541C>T c.1560C>T (p.Pro520=) c.1365C>T (p.Pro455=) c.1902C>T (p.Pro634=) c.1803C>T (p.Pro601=) c.1674C>T (p.Pro558=) c.1665C>T (p.Pro555=) c.1470C>T (p.Pro490=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50242452G>C | CA490314086 | HDC | c.1797C>G (p.Pro599=) c.1698C>G (p.Pro566=) n.1541C>G c.1560C>G (p.Pro520=) c.1365C>G (p.Pro455=) c.1902C>G (p.Pro634=) c.1803C>G (p.Pro601=) c.1674C>G (p.Pro558=) c.1665C>G (p.Pro555=) c.1470C>G (p.Pro490=) | |
| 15 | g.50242452G= | CA2176326598 | HDC | c.1797C= (p.Pro599=) c.1698C= (p.Pro566=) n.1541C= c.1560C= (p.Pro520=) c.1365C= (p.Pro455=) c.1902C= (p.Pro634=) c.1803C= (p.Pro601=) c.1674C= (p.Pro558=) c.1665C= (p.Pro555=) c.1470C= (p.Pro490=) | |
| 15 | g.50242452G>T | CA490314088 | HDC | c.1797C>A (p.Pro599=) c.1698C>A (p.Pro566=) n.1541C>A c.1560C>A (p.Pro520=) c.1365C>A (p.Pro455=) c.1902C>A (p.Pro634=) c.1803C>A (p.Pro601=) c.1674C>A (p.Pro558=) c.1665C>A (p.Pro555=) c.1470C>A (p.Pro490=) | |
| 15 | g.50242453G>A | CA392377054 | HDC | c.1796C>T (p.Pro599Leu) c.1697C>T (p.Pro566Leu) n.1540C>T c.1559C>T (p.Pro520Leu) c.1364C>T (p.Pro455Leu) c.1901C>T (p.Pro634Leu) c.1802C>T (p.Pro601Leu) c.1673C>T (p.Pro558Leu) c.1664C>T (p.Pro555Leu) c.1469C>T (p.Pro490Leu) | gnomAD v4 |
| 15 | g.50242453G>C | CA392377055 | HDC | c.1796C>G (p.Pro599Arg) c.1697C>G (p.Pro566Arg) n.1540C>G c.1559C>G (p.Pro520Arg) c.1364C>G (p.Pro455Arg) c.1901C>G (p.Pro634Arg) c.1802C>G (p.Pro601Arg) c.1673C>G (p.Pro558Arg) c.1664C>G (p.Pro555Arg) c.1469C>G (p.Pro490Arg) | |
| 15 | g.50242453G>T | CA392377056 | HDC | c.1796C>A (p.Pro599His) c.1697C>A (p.Pro566His) n.1540C>A c.1559C>A (p.Pro520His) c.1364C>A (p.Pro455His) c.1901C>A (p.Pro634His) c.1802C>A (p.Pro601His) c.1673C>A (p.Pro558His) c.1664C>A (p.Pro555His) c.1469C>A (p.Pro490His) | |
| 15 | g.50242454G>A | CA392377057 | HDC | c.1795C>T (p.Pro599Ser) c.1696C>T (p.Pro566Ser) n.1539C>T c.1558C>T (p.Pro520Ser) c.1363C>T (p.Pro455Ser) c.1900C>T (p.Pro634Ser) c.1801C>T (p.Pro601Ser) c.1672C>T (p.Pro558Ser) c.1663C>T (p.Pro555Ser) c.1468C>T (p.Pro490Ser) | dbSNP gnomAD v4 |
| 15 | g.50242454G>C | CA392377058 | HDC | c.1795C>G (p.Pro599Ala) c.1696C>G (p.Pro566Ala) n.1539C>G c.1558C>G (p.Pro520Ala) c.1363C>G (p.Pro455Ala) c.1900C>G (p.Pro634Ala) c.1801C>G (p.Pro601Ala) c.1672C>G (p.Pro558Ala) c.1663C>G (p.Pro555Ala) c.1468C>G (p.Pro490Ala) | gnomAD v4 |
| 15 | g.50242454G= | CA2176326599 | HDC | c.1795C= (p.Pro599=) c.1696C= (p.Pro566=) n.1539C= c.1558C= (p.Pro520=) c.1363C= (p.Pro455=) c.1900C= (p.Pro634=) c.1801C= (p.Pro601=) c.1672C= (p.Pro558=) c.1663C= (p.Pro555=) c.1468C= (p.Pro490=) | |
| 15 | g.50242454G>T | CA392377059 | HDC | c.1795C>A (p.Pro599Thr) c.1696C>A (p.Pro566Thr) n.1539C>A c.1558C>A (p.Pro520Thr) c.1363C>A (p.Pro455Thr) c.1900C>A (p.Pro634Thr) c.1801C>A (p.Pro601Thr) c.1672C>A (p.Pro558Thr) c.1663C>A (p.Pro555Thr) c.1468C>A (p.Pro490Thr) | |
| 15 | g.50242455C>A | CA490314090 | HDC | c.1794G>T (p.Leu598=) c.1695G>T (p.Leu565=) n.1538G>T c.1557G>T (p.Leu519=) c.1362G>T (p.Leu454=) c.1899G>T (p.Leu633=) c.1800G>T (p.Leu600=) c.1671G>T (p.Leu557=) c.1662G>T (p.Leu554=) c.1467G>T (p.Leu489=) | |
| 15 | g.50242455C= | CA2176326600 | HDC | c.1794G= (p.Leu598=) c.1695G= (p.Leu565=) n.1538G= c.1557G= (p.Leu519=) c.1362G= (p.Leu454=) c.1899G= (p.Leu633=) c.1800G= (p.Leu600=) c.1671G= (p.Leu557=) c.1662G= (p.Leu554=) c.1467G= (p.Leu489=) | |
| 15 | g.50242455C>G | CA490314091 | HDC | c.1794G>C (p.Leu598=) c.1695G>C (p.Leu565=) n.1538G>C c.1557G>C (p.Leu519=) c.1362G>C (p.Leu454=) c.1899G>C (p.Leu633=) c.1800G>C (p.Leu600=) c.1671G>C (p.Leu557=) c.1662G>C (p.Leu554=) c.1467G>C (p.Leu489=) | |
| 15 | g.50242455C>T | CA7554490 | HDC | c.1794G>A (p.Leu598=) c.1695G>A (p.Leu565=) n.1538G>A c.1557G>A (p.Leu519=) c.1362G>A (p.Leu454=) c.1899G>A (p.Leu633=) c.1800G>A (p.Leu600=) c.1671G>A (p.Leu557=) c.1662G>A (p.Leu554=) c.1467G>A (p.Leu489=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242456A>C | CA392377060 | HDC | c.1793T>G (p.Leu598Arg) c.1694T>G (p.Leu565Arg) n.1537T>G c.1556T>G (p.Leu519Arg) c.1361T>G (p.Leu454Arg) c.1898T>G (p.Leu633Arg) c.1799T>G (p.Leu600Arg) c.1670T>G (p.Leu557Arg) c.1661T>G (p.Leu554Arg) c.1466T>G (p.Leu489Arg) | |
| 15 | g.50242456A>G | CA392377061 | HDC | c.1793T>C (p.Leu598Pro) c.1694T>C (p.Leu565Pro) n.1537T>C c.1556T>C (p.Leu519Pro) c.1361T>C (p.Leu454Pro) c.1898T>C (p.Leu633Pro) c.1799T>C (p.Leu600Pro) c.1670T>C (p.Leu557Pro) c.1661T>C (p.Leu554Pro) c.1466T>C (p.Leu489Pro) | |
| 15 | g.50242456A>T | CA392377062 | HDC | c.1793T>A (p.Leu598Gln) c.1694T>A (p.Leu565Gln) n.1537T>A c.1556T>A (p.Leu519Gln) c.1361T>A (p.Leu454Gln) c.1898T>A (p.Leu633Gln) c.1799T>A (p.Leu600Gln) c.1670T>A (p.Leu557Gln) c.1661T>A (p.Leu554Gln) c.1466T>A (p.Leu489Gln) | gnomAD v4 |
| 15 | g.50242457G>A | CA7554491 | HDC | c.1792C>T (p.Leu598=) c.1693C>T (p.Leu565=) n.1536C>T c.1555C>T (p.Leu519=) c.1360C>T (p.Leu454=) c.1897C>T (p.Leu633=) c.1798C>T (p.Leu600=) c.1669C>T (p.Leu557=) c.1660C>T (p.Leu554=) c.1465C>T (p.Leu489=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242457G>C | CA392377063 | HDC | c.1792C>G (p.Leu598Val) c.1693C>G (p.Leu565Val) n.1536C>G c.1555C>G (p.Leu519Val) c.1360C>G (p.Leu454Val) c.1897C>G (p.Leu633Val) c.1798C>G (p.Leu600Val) c.1669C>G (p.Leu557Val) c.1660C>G (p.Leu554Val) c.1465C>G (p.Leu489Val) | |
| 15 | g.50242457G= | CA2176326601 | HDC | c.1792C= (p.Leu598=) c.1693C= (p.Leu565=) n.1536C= c.1555C= (p.Leu519=) c.1360C= (p.Leu454=) c.1897C= (p.Leu633=) c.1798C= (p.Leu600=) c.1669C= (p.Leu557=) c.1660C= (p.Leu554=) c.1465C= (p.Leu489=) | |
| 15 | g.50242457G>T | CA392377064 | HDC | c.1792C>A (p.Leu598Met) c.1693C>A (p.Leu565Met) n.1536C>A c.1555C>A (p.Leu519Met) c.1360C>A (p.Leu454Met) c.1897C>A (p.Leu633Met) c.1798C>A (p.Leu600Met) c.1669C>A (p.Leu557Met) c.1660C>A (p.Leu554Met) c.1465C>A (p.Leu489Met) | |
| 15 | g.50242458T>A | CA490314095 | HDC | c.1791A>T (p.Pro597=) c.1692A>T (p.Pro564=) n.1535A>T c.1554A>T (p.Pro518=) c.1359A>T (p.Pro453=) c.1896A>T (p.Pro632=) c.1797A>T (p.Pro599=) c.1668A>T (p.Pro556=) c.1659A>T (p.Pro553=) c.1464A>T (p.Pro488=) | |
| 15 | g.50242458T>C | CA490314096 | HDC | c.1791A>G (p.Pro597=) c.1692A>G (p.Pro564=) n.1535A>G c.1554A>G (p.Pro518=) c.1359A>G (p.Pro453=) c.1896A>G (p.Pro632=) c.1797A>G (p.Pro599=) c.1668A>G (p.Pro556=) c.1659A>G (p.Pro553=) c.1464A>G (p.Pro488=) | |
| 15 | g.50242458T>G | CA490314097 | HDC | c.1791A>C (p.Pro597=) c.1692A>C (p.Pro564=) n.1535A>C c.1554A>C (p.Pro518=) c.1359A>C (p.Pro453=) c.1896A>C (p.Pro632=) c.1797A>C (p.Pro599=) c.1668A>C (p.Pro556=) c.1659A>C (p.Pro553=) c.1464A>C (p.Pro488=) | |
| 15 | g.50242459G>A | CA392377065 | HDC | c.1790C>T (p.Pro597Leu) c.1691C>T (p.Pro564Leu) n.1534C>T c.1553C>T (p.Pro518Leu) c.1358C>T (p.Pro453Leu) c.1895C>T (p.Pro632Leu) c.1796C>T (p.Pro599Leu) c.1667C>T (p.Pro556Leu) c.1658C>T (p.Pro553Leu) c.1463C>T (p.Pro488Leu) | gnomAD v4 |
| 15 | g.50242459G>C | CA392377066 | HDC | c.1790C>G (p.Pro597Arg) c.1691C>G (p.Pro564Arg) n.1534C>G c.1553C>G (p.Pro518Arg) c.1358C>G (p.Pro453Arg) c.1895C>G (p.Pro632Arg) c.1796C>G (p.Pro599Arg) c.1667C>G (p.Pro556Arg) c.1658C>G (p.Pro553Arg) c.1463C>G (p.Pro488Arg) | |
| 15 | g.50242459G>T | CA392377067 | HDC | c.1790C>A (p.Pro597Gln) c.1691C>A (p.Pro564Gln) n.1534C>A c.1553C>A (p.Pro518Gln) c.1358C>A (p.Pro453Gln) c.1895C>A (p.Pro632Gln) c.1796C>A (p.Pro599Gln) c.1667C>A (p.Pro556Gln) c.1658C>A (p.Pro553Gln) c.1463C>A (p.Pro488Gln) | |
| 15 | g.50242460G>A | CA392377068 | HDC | c.1789C>T (p.Pro597Ser) c.1690C>T (p.Pro564Ser) n.1533C>T c.1552C>T (p.Pro518Ser) c.1357C>T (p.Pro453Ser) c.1894C>T (p.Pro632Ser) c.1795C>T (p.Pro599Ser) c.1666C>T (p.Pro556Ser) c.1657C>T (p.Pro553Ser) c.1462C>T (p.Pro488Ser) | |
| 15 | g.50242460G>C | CA392377069 | HDC | c.1789C>G (p.Pro597Ala) c.1690C>G (p.Pro564Ala) n.1533C>G c.1552C>G (p.Pro518Ala) c.1357C>G (p.Pro453Ala) c.1894C>G (p.Pro632Ala) c.1795C>G (p.Pro599Ala) c.1666C>G (p.Pro556Ala) c.1657C>G (p.Pro553Ala) c.1462C>G (p.Pro488Ala) | dbSNP |
| 15 | g.50242460G= | CA2176326602 | HDC | c.1789C= (p.Pro597=) c.1690C= (p.Pro564=) n.1533C= c.1552C= (p.Pro518=) c.1357C= (p.Pro453=) c.1894C= (p.Pro632=) c.1795C= (p.Pro599=) c.1666C= (p.Pro556=) c.1657C= (p.Pro553=) c.1462C= (p.Pro488=) | |
| 15 | g.50242460G>T | CA392377070 | HDC | c.1789C>A (p.Pro597Thr) c.1690C>A (p.Pro564Thr) n.1533C>A c.1552C>A (p.Pro518Thr) c.1357C>A (p.Pro453Thr) c.1894C>A (p.Pro632Thr) c.1795C>A (p.Pro599Thr) c.1666C>A (p.Pro556Thr) c.1657C>A (p.Pro553Thr) c.1462C>A (p.Pro488Thr) | |
| 15 | g.50242461C>A | CA392377071 | HDC | c.1788G>T (p.Lys596Asn) c.1689G>T (p.Lys563Asn) n.1532G>T c.1551G>T (p.Lys517Asn) c.1356G>T (p.Lys452Asn) c.1893G>T (p.Lys631Asn) c.1794G>T (p.Lys598Asn) c.1665G>T (p.Lys555Asn) c.1656G>T (p.Lys552Asn) c.1461G>T (p.Lys487Asn) | |
| 15 | g.50242461C= | CA2176326603 | HDC | c.1788G= (p.Lys596=) c.1689G= (p.Lys563=) n.1532G= c.1551G= (p.Lys517=) c.1356G= (p.Lys452=) c.1893G= (p.Lys631=) c.1794G= (p.Lys598=) c.1665G= (p.Lys555=) c.1656G= (p.Lys552=) c.1461G= (p.Lys487=) | |
| 15 | g.50242461C>G | CA7554492 | HDC | c.1788G>C (p.Lys596Asn) c.1689G>C (p.Lys563Asn) n.1532G>C c.1551G>C (p.Lys517Asn) c.1356G>C (p.Lys452Asn) c.1893G>C (p.Lys631Asn) c.1794G>C (p.Lys598Asn) c.1665G>C (p.Lys555Asn) c.1656G>C (p.Lys552Asn) c.1461G>C (p.Lys487Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242461C>T | CA490314099 | HDC | c.1788G>A (p.Lys596=) c.1689G>A (p.Lys563=) n.1532G>A c.1551G>A (p.Lys517=) c.1356G>A (p.Lys452=) c.1893G>A (p.Lys631=) c.1794G>A (p.Lys598=) c.1665G>A (p.Lys555=) c.1656G>A (p.Lys552=) c.1461G>A (p.Lys487=) | gnomAD v4 |
| 15 | g.50242462T>A | CA392377073 | HDC | c.1787A>T (p.Lys596Met) c.1688A>T (p.Lys563Met) n.1531A>T c.1550A>T (p.Lys517Met) c.1355A>T (p.Lys452Met) c.1892A>T (p.Lys631Met) c.1793A>T (p.Lys598Met) c.1664A>T (p.Lys555Met) c.1655A>T (p.Lys552Met) c.1460A>T (p.Lys487Met) | |
| 15 | g.50242462T>C | CA7554493 | HDC | c.1787A>G (p.Lys596Arg) c.1688A>G (p.Lys563Arg) n.1531A>G c.1550A>G (p.Lys517Arg) c.1355A>G (p.Lys452Arg) c.1892A>G (p.Lys631Arg) c.1793A>G (p.Lys598Arg) c.1664A>G (p.Lys555Arg) c.1655A>G (p.Lys552Arg) c.1460A>G (p.Lys487Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242462T>G | CA392377072 | HDC | c.1787A>C (p.Lys596Thr) c.1688A>C (p.Lys563Thr) n.1531A>C c.1550A>C (p.Lys517Thr) c.1355A>C (p.Lys452Thr) c.1892A>C (p.Lys631Thr) c.1793A>C (p.Lys598Thr) c.1664A>C (p.Lys555Thr) c.1655A>C (p.Lys552Thr) c.1460A>C (p.Lys487Thr) | |
| 15 | g.50242462T= | CA2176326604 | HDC | c.1787A= (p.Lys596=) c.1688A= (p.Lys563=) n.1531A= c.1550A= (p.Lys517=) c.1355A= (p.Lys452=) c.1892A= (p.Lys631=) c.1793A= (p.Lys598=) c.1664A= (p.Lys555=) c.1655A= (p.Lys552=) c.1460A= (p.Lys487=) | |
| 15 | g.50242463T>A | CA392377074 | HDC | c.1786A>T (p.Lys596Ter) c.1687A>T (p.Lys563Ter) n.1530A>T c.1549A>T (p.Lys517Ter) c.1354A>T (p.Lys452Ter) c.1891A>T (p.Lys631Ter) c.1792A>T (p.Lys598Ter) c.1663A>T (p.Lys555Ter) c.1654A>T (p.Lys552Ter) c.1459A>T (p.Lys487Ter) | |
| 15 | g.50242463T>C | CA392377075 | HDC | c.1786A>G (p.Lys596Glu) c.1687A>G (p.Lys563Glu) n.1530A>G c.1549A>G (p.Lys517Glu) c.1354A>G (p.Lys452Glu) c.1891A>G (p.Lys631Glu) c.1792A>G (p.Lys598Glu) c.1663A>G (p.Lys555Glu) c.1654A>G (p.Lys552Glu) c.1459A>G (p.Lys487Glu) | |
| 15 | g.50242463T>G | CA7554494 | HDC | c.1786A>C (p.Lys596Gln) c.1687A>C (p.Lys563Gln) n.1530A>C c.1549A>C (p.Lys517Gln) c.1354A>C (p.Lys452Gln) c.1891A>C (p.Lys631Gln) c.1792A>C (p.Lys598Gln) c.1663A>C (p.Lys555Gln) c.1654A>C (p.Lys552Gln) c.1459A>C (p.Lys487Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242463T= | CA2176326605 | HDC | c.1786A= (p.Lys596=) c.1687A= (p.Lys563=) n.1530A= c.1549A= (p.Lys517=) c.1354A= (p.Lys452=) c.1891A= (p.Lys631=) c.1792A= (p.Lys598=) c.1663A= (p.Lys555=) c.1654A= (p.Lys552=) c.1459A= (p.Lys487=) | |
| 15 | g.50242464C>A | CA392377076 | HDC | c.1785G>T (p.Gln595His) c.1686G>T (p.Gln562His) n.1529G>T c.1548G>T (p.Gln516His) c.1353G>T (p.Gln451His) c.1890G>T (p.Gln630His) c.1791G>T (p.Gln597His) c.1662G>T (p.Gln554His) c.1653G>T (p.Gln551His) c.1458G>T (p.Gln486His) | |
| 15 | g.50242464C= | CA2176326606 | HDC | c.1785G= (p.Gln595=) c.1686G= (p.Gln562=) n.1529G= c.1548G= (p.Gln516=) c.1353G= (p.Gln451=) c.1890G= (p.Gln630=) c.1791G= (p.Gln597=) c.1662G= (p.Gln554=) c.1653G= (p.Gln551=) c.1458G= (p.Gln486=) | |
| 15 | g.50242464C>G | CA392377077 | HDC | c.1785G>C (p.Gln595His) c.1686G>C (p.Gln562His) n.1529G>C c.1548G>C (p.Gln516His) c.1353G>C (p.Gln451His) c.1890G>C (p.Gln630His) c.1791G>C (p.Gln597His) c.1662G>C (p.Gln554His) c.1653G>C (p.Gln551His) c.1458G>C (p.Gln486His) | |
| 15 | g.50242464C>T | CA490314101 | HDC | c.1785G>A (p.Gln595=) c.1686G>A (p.Gln562=) n.1529G>A c.1548G>A (p.Gln516=) c.1353G>A (p.Gln451=) c.1890G>A (p.Gln630=) c.1791G>A (p.Gln597=) c.1662G>A (p.Gln554=) c.1653G>A (p.Gln551=) c.1458G>A (p.Gln486=) | dbSNP |
| 15 | g.50242465T>A | CA392377080 | HDC | c.1784A>T (p.Gln595Leu) c.1685A>T (p.Gln562Leu) n.1528A>T c.1547A>T (p.Gln516Leu) c.1352A>T (p.Gln451Leu) c.1889A>T (p.Gln630Leu) c.1790A>T (p.Gln597Leu) c.1661A>T (p.Gln554Leu) c.1652A>T (p.Gln551Leu) c.1457A>T (p.Gln486Leu) | |
| 15 | g.50242465T>C | CA392377079 | HDC | c.1784A>G (p.Gln595Arg) c.1685A>G (p.Gln562Arg) n.1528A>G c.1547A>G (p.Gln516Arg) c.1352A>G (p.Gln451Arg) c.1889A>G (p.Gln630Arg) c.1790A>G (p.Gln597Arg) c.1661A>G (p.Gln554Arg) c.1652A>G (p.Gln551Arg) c.1457A>G (p.Gln486Arg) | |
| 15 | g.50242465T>G | CA392377078 | HDC | c.1784A>C (p.Gln595Pro) c.1685A>C (p.Gln562Pro) n.1528A>C c.1547A>C (p.Gln516Pro) c.1352A>C (p.Gln451Pro) c.1889A>C (p.Gln630Pro) c.1790A>C (p.Gln597Pro) c.1661A>C (p.Gln554Pro) c.1652A>C (p.Gln551Pro) c.1457A>C (p.Gln486Pro) | |
| 15 | g.50242466G>A | CA392377081 | HDC | c.1783C>T (p.Gln595Ter) c.1684C>T (p.Gln562Ter) n.1527C>T c.1546C>T (p.Gln516Ter) c.1351C>T (p.Gln451Ter) c.1888C>T (p.Gln630Ter) c.1789C>T (p.Gln597Ter) c.1660C>T (p.Gln554Ter) c.1651C>T (p.Gln551Ter) c.1456C>T (p.Gln486Ter) | |
| 15 | g.50242466G>C | CA392377082 | HDC | c.1783C>G (p.Gln595Glu) c.1684C>G (p.Gln562Glu) n.1527C>G c.1546C>G (p.Gln516Glu) c.1351C>G (p.Gln451Glu) c.1888C>G (p.Gln630Glu) c.1789C>G (p.Gln597Glu) c.1660C>G (p.Gln554Glu) c.1651C>G (p.Gln551Glu) c.1456C>G (p.Gln486Glu) | |
| 15 | g.50242466G>T | CA392377083 | HDC | c.1783C>A (p.Gln595Lys) c.1684C>A (p.Gln562Lys) n.1527C>A c.1546C>A (p.Gln516Lys) c.1351C>A (p.Gln451Lys) c.1888C>A (p.Gln630Lys) c.1789C>A (p.Gln597Lys) c.1660C>A (p.Gln554Lys) c.1651C>A (p.Gln551Lys) c.1456C>A (p.Gln486Lys) | |
| 15 | g.50242467A>C | CA490314103 | HDC | c.1782T>G (p.Ala594=) c.1683T>G (p.Ala561=) n.1526T>G c.1545T>G (p.Ala515=) c.1350T>G (p.Ala450=) c.1887T>G (p.Ala629=) c.1788T>G (p.Ala596=) c.1659T>G (p.Ala553=) c.1650T>G (p.Ala550=) c.1455T>G (p.Ala485=) | |
| 15 | g.50242467A>G | CA490314105 | HDC | c.1782T>C (p.Ala594=) c.1683T>C (p.Ala561=) n.1526T>C c.1545T>C (p.Ala515=) c.1350T>C (p.Ala450=) c.1887T>C (p.Ala629=) c.1788T>C (p.Ala596=) c.1659T>C (p.Ala553=) c.1650T>C (p.Ala550=) c.1455T>C (p.Ala485=) | |
| 15 | g.50242467A>T | CA490314106 | HDC | c.1782T>A (p.Ala594=) c.1683T>A (p.Ala561=) n.1526T>A c.1545T>A (p.Ala515=) c.1350T>A (p.Ala450=) c.1887T>A (p.Ala629=) c.1788T>A (p.Ala596=) c.1659T>A (p.Ala553=) c.1650T>A (p.Ala550=) c.1455T>A (p.Ala485=) | |
| 15 | g.50242468G>A | CA392377084 | HDC | c.1781C>T (p.Ala594Val) c.1682C>T (p.Ala561Val) n.1525C>T c.1544C>T (p.Ala515Val) c.1349C>T (p.Ala450Val) c.1886C>T (p.Ala629Val) c.1787C>T (p.Ala596Val) c.1658C>T (p.Ala553Val) c.1649C>T (p.Ala550Val) c.1454C>T (p.Ala485Val) | gnomAD v4 |
| 15 | g.50242468G>C | CA392377085 | HDC | c.1781C>G (p.Ala594Gly) c.1682C>G (p.Ala561Gly) n.1525C>G c.1544C>G (p.Ala515Gly) c.1349C>G (p.Ala450Gly) c.1886C>G (p.Ala629Gly) c.1787C>G (p.Ala596Gly) c.1658C>G (p.Ala553Gly) c.1649C>G (p.Ala550Gly) c.1454C>G (p.Ala485Gly) | |
| 15 | g.50242468G>T | CA392377086 | HDC | c.1781C>A (p.Ala594Asp) c.1682C>A (p.Ala561Asp) n.1525C>A c.1544C>A (p.Ala515Asp) c.1349C>A (p.Ala450Asp) c.1886C>A (p.Ala629Asp) c.1787C>A (p.Ala596Asp) c.1658C>A (p.Ala553Asp) c.1649C>A (p.Ala550Asp) c.1454C>A (p.Ala485Asp) | |
| 15 | g.50242469C>A | CA392377087 | HDC | c.1780G>T (p.Ala594Ser) c.1681G>T (p.Ala561Ser) n.1524G>T c.1543G>T (p.Ala515Ser) c.1348G>T (p.Ala450Ser) c.1885G>T (p.Ala629Ser) c.1786G>T (p.Ala596Ser) c.1657G>T (p.Ala553Ser) c.1648G>T (p.Ala550Ser) c.1453G>T (p.Ala485Ser) | |
| 15 | g.50242469C>G | CA392377089 | HDC | c.1780G>C (p.Ala594Pro) c.1681G>C (p.Ala561Pro) n.1524G>C c.1543G>C (p.Ala515Pro) c.1348G>C (p.Ala450Pro) c.1885G>C (p.Ala629Pro) c.1786G>C (p.Ala596Pro) c.1657G>C (p.Ala553Pro) c.1648G>C (p.Ala550Pro) c.1453G>C (p.Ala485Pro) | |
| 15 | g.50242469C>T | CA392377088 | HDC | c.1780G>A (p.Ala594Thr) c.1681G>A (p.Ala561Thr) n.1524G>A c.1543G>A (p.Ala515Thr) c.1348G>A (p.Ala450Thr) c.1885G>A (p.Ala629Thr) c.1786G>A (p.Ala596Thr) c.1657G>A (p.Ala553Thr) c.1648G>A (p.Ala550Thr) c.1453G>A (p.Ala485Thr) | COSMIC |
| 15 | g.50242470A>C | CA392377090 | HDC | c.1779T>G (p.Ser593Arg) c.1680T>G (p.Ser560Arg) n.1523T>G c.1542T>G (p.Ser514Arg) c.1347T>G (p.Ser449Arg) c.1884T>G (p.Ser628Arg) c.1785T>G (p.Ser595Arg) c.1656T>G (p.Ser552Arg) c.1647T>G (p.Ser549Arg) c.1452T>G (p.Ser484Arg) | gnomAD v4 |
| 15 | g.50242470A>G | CA490314107 | HDC | c.1779T>C (p.Ser593=) c.1680T>C (p.Ser560=) n.1523T>C c.1542T>C (p.Ser514=) c.1347T>C (p.Ser449=) c.1884T>C (p.Ser628=) c.1785T>C (p.Ser595=) c.1656T>C (p.Ser552=) c.1647T>C (p.Ser549=) c.1452T>C (p.Ser484=) | |
| 15 | g.50242470A>T | CA392377091 | HDC | c.1779T>A (p.Ser593Arg) c.1680T>A (p.Ser560Arg) n.1523T>A c.1542T>A (p.Ser514Arg) c.1347T>A (p.Ser449Arg) c.1884T>A (p.Ser628Arg) c.1785T>A (p.Ser595Arg) c.1656T>A (p.Ser552Arg) c.1647T>A (p.Ser549Arg) c.1452T>A (p.Ser484Arg) | |
| 15 | g.50242471C>A | CA392377092 | HDC | c.1778G>T (p.Ser593Ile) c.1679G>T (p.Ser560Ile) n.1522G>T c.1541G>T (p.Ser514Ile) c.1346G>T (p.Ser449Ile) c.1883G>T (p.Ser628Ile) c.1784G>T (p.Ser595Ile) c.1655G>T (p.Ser552Ile) c.1646G>T (p.Ser549Ile) c.1451G>T (p.Ser484Ile) | COSMIC |
| 15 | g.50242471C= | CA2176326607 | HDC | c.1778G= (p.Ser593=) c.1679G= (p.Ser560=) n.1522G= c.1541G= (p.Ser514=) c.1346G= (p.Ser449=) c.1883G= (p.Ser628=) c.1784G= (p.Ser595=) c.1655G= (p.Ser552=) c.1646G= (p.Ser549=) c.1451G= (p.Ser484=) | |
| 15 | g.50242471C>G | CA392377093 | HDC | c.1778G>C (p.Ser593Thr) c.1679G>C (p.Ser560Thr) n.1522G>C c.1541G>C (p.Ser514Thr) c.1346G>C (p.Ser449Thr) c.1883G>C (p.Ser628Thr) c.1784G>C (p.Ser595Thr) c.1655G>C (p.Ser552Thr) c.1646G>C (p.Ser549Thr) c.1451G>C (p.Ser484Thr) | |
| 15 | g.50242471C>T | CA7554495 | HDC | c.1778G>A (p.Ser593Asn) c.1679G>A (p.Ser560Asn) n.1522G>A c.1541G>A (p.Ser514Asn) c.1346G>A (p.Ser449Asn) c.1883G>A (p.Ser628Asn) c.1784G>A (p.Ser595Asn) c.1655G>A (p.Ser552Asn) c.1646G>A (p.Ser549Asn) c.1451G>A (p.Ser484Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242472T>A | CA392377094 | HDC | c.1777A>T (p.Ser593Cys) c.1678A>T (p.Ser560Cys) n.1521A>T c.1540A>T (p.Ser514Cys) c.1345A>T (p.Ser449Cys) c.1882A>T (p.Ser628Cys) c.1783A>T (p.Ser595Cys) c.1654A>T (p.Ser552Cys) c.1645A>T (p.Ser549Cys) c.1450A>T (p.Ser484Cys) | |
| 15 | g.50242472T>C | CA392377095 | HDC | c.1777A>G (p.Ser593Gly) c.1678A>G (p.Ser560Gly) n.1521A>G c.1540A>G (p.Ser514Gly) c.1345A>G (p.Ser449Gly) c.1882A>G (p.Ser628Gly) c.1783A>G (p.Ser595Gly) c.1654A>G (p.Ser552Gly) c.1645A>G (p.Ser549Gly) c.1450A>G (p.Ser484Gly) | |
| 15 | g.50242472T>G | CA392377096 | HDC | c.1777A>C (p.Ser593Arg) c.1678A>C (p.Ser560Arg) n.1521A>C c.1540A>C (p.Ser514Arg) c.1345A>C (p.Ser449Arg) c.1882A>C (p.Ser628Arg) c.1783A>C (p.Ser595Arg) c.1654A>C (p.Ser552Arg) c.1645A>C (p.Ser549Arg) c.1450A>C (p.Ser484Arg) | |
| 15 | g.50242473C>A | CA490314112 | HDC | c.1776G>T (p.Val592=) c.1677G>T (p.Val559=) n.1520G>T c.1539G>T (p.Val513=) c.1344G>T (p.Val448=) c.1881G>T (p.Val627=) c.1782G>T (p.Val594=) c.1653G>T (p.Val551=) c.1644G>T (p.Val548=) c.1449G>T (p.Val483=) | |
| 15 | g.50242473C>G | CA490314113 | HDC | c.1776G>C (p.Val592=) c.1677G>C (p.Val559=) n.1520G>C c.1539G>C (p.Val513=) c.1344G>C (p.Val448=) c.1881G>C (p.Val627=) c.1782G>C (p.Val594=) c.1653G>C (p.Val551=) c.1644G>C (p.Val548=) c.1449G>C (p.Val483=) | |
| 15 | g.50242473C>T | CA490314114 | HDC | c.1776G>A (p.Val592=) c.1677G>A (p.Val559=) n.1520G>A c.1539G>A (p.Val513=) c.1344G>A (p.Val448=) c.1881G>A (p.Val627=) c.1782G>A (p.Val594=) c.1653G>A (p.Val551=) c.1644G>A (p.Val548=) c.1449G>A (p.Val483=) | gnomAD v4 |
| 15 | g.50242474A= | CA2176326608 | HDC | c.1775T= (p.Val592=) c.1676T= (p.Val559=) n.1519T= c.1538T= (p.Val513=) c.1343T= (p.Val448=) c.1880T= (p.Val627=) c.1781T= (p.Val594=) c.1652T= (p.Val551=) c.1643T= (p.Val548=) c.1448T= (p.Val483=) | |
| 15 | g.50242474A>C | CA392377097 | HDC | c.1775T>G (p.Val592Gly) c.1676T>G (p.Val559Gly) n.1519T>G c.1538T>G (p.Val513Gly) c.1343T>G (p.Val448Gly) c.1880T>G (p.Val627Gly) c.1781T>G (p.Val594Gly) c.1652T>G (p.Val551Gly) c.1643T>G (p.Val548Gly) c.1448T>G (p.Val483Gly) | |
| 15 | g.50242474A>G | CA392377098 | HDC | c.1775T>C (p.Val592Ala) c.1676T>C (p.Val559Ala) n.1519T>C c.1538T>C (p.Val513Ala) c.1343T>C (p.Val448Ala) c.1880T>C (p.Val627Ala) c.1781T>C (p.Val594Ala) c.1652T>C (p.Val551Ala) c.1643T>C (p.Val548Ala) c.1448T>C (p.Val483Ala) | ClinVar dbSNP gnomAD v4 |
| 15 | g.50242474A>T | CA392377099 | HDC | c.1775T>A (p.Val592Glu) c.1676T>A (p.Val559Glu) n.1519T>A c.1538T>A (p.Val513Glu) c.1343T>A (p.Val448Glu) c.1880T>A (p.Val627Glu) c.1781T>A (p.Val594Glu) c.1652T>A (p.Val551Glu) c.1643T>A (p.Val548Glu) c.1448T>A (p.Val483Glu) | |
| 15 | g.50242475C>A | CA392377101 | HDC | c.1774G>T (p.Val592Leu) c.1675G>T (p.Val559Leu) n.1518G>T c.1537G>T (p.Val513Leu) c.1342G>T (p.Val448Leu) c.1879G>T (p.Val627Leu) c.1780G>T (p.Val594Leu) c.1651G>T (p.Val551Leu) c.1642G>T (p.Val548Leu) c.1447G>T (p.Val483Leu) | |
| 15 | g.50242475C= | CA2176326609 | HDC | c.1774G= (p.Val592=) c.1675G= (p.Val559=) n.1518G= c.1537G= (p.Val513=) c.1342G= (p.Val448=) c.1879G= (p.Val627=) c.1780G= (p.Val594=) c.1651G= (p.Val551=) c.1642G= (p.Val548=) c.1447G= (p.Val483=) | |
| 15 | g.50242475C>G | CA270413899 | HDC | c.1774G>C (p.Val592Leu) c.1675G>C (p.Val559Leu) n.1518G>C c.1537G>C (p.Val513Leu) c.1342G>C (p.Val448Leu) c.1879G>C (p.Val627Leu) c.1780G>C (p.Val594Leu) c.1651G>C (p.Val551Leu) c.1642G>C (p.Val548Leu) c.1447G>C (p.Val483Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242475C>T | CA392377100 | HDC | c.1774G>A (p.Val592Met) c.1675G>A (p.Val559Met) n.1518G>A c.1537G>A (p.Val513Met) c.1342G>A (p.Val448Met) c.1879G>A (p.Val627Met) c.1780G>A (p.Val594Met) c.1651G>A (p.Val551Met) c.1642G>A (p.Val548Met) c.1447G>A (p.Val483Met) | |
| 15 | g.50242476T>A | CA490314118 | HDC | c.1773A>T (p.Pro591=) c.1674A>T (p.Pro558=) n.1517A>T c.1536A>T (p.Pro512=) c.1341A>T (p.Pro447=) c.1878A>T (p.Pro626=) c.1779A>T (p.Pro593=) c.1650A>T (p.Pro550=) c.1641A>T (p.Pro547=) c.1446A>T (p.Pro482=) | |
| 15 | g.50242476T>C | CA490314119 | HDC | c.1773A>G (p.Pro591=) c.1674A>G (p.Pro558=) n.1517A>G c.1536A>G (p.Pro512=) c.1341A>G (p.Pro447=) c.1878A>G (p.Pro626=) c.1779A>G (p.Pro593=) c.1650A>G (p.Pro550=) c.1641A>G (p.Pro547=) c.1446A>G (p.Pro482=) | |
| 15 | g.50242476T>G | CA490314121 | HDC | c.1773A>C (p.Pro591=) c.1674A>C (p.Pro558=) n.1517A>C c.1536A>C (p.Pro512=) c.1341A>C (p.Pro447=) c.1878A>C (p.Pro626=) c.1779A>C (p.Pro593=) c.1650A>C (p.Pro550=) c.1641A>C (p.Pro547=) c.1446A>C (p.Pro482=) | |
| 15 | g.50242477G>A | CA392377102 | HDC | c.1772C>T (p.Pro591Leu) c.1673C>T (p.Pro558Leu) n.1516C>T c.1535C>T (p.Pro512Leu) c.1340C>T (p.Pro447Leu) c.1877C>T (p.Pro626Leu) c.1778C>T (p.Pro593Leu) c.1649C>T (p.Pro550Leu) c.1640C>T (p.Pro547Leu) c.1445C>T (p.Pro482Leu) | |
| 15 | g.50242477G>C | CA392377104 | HDC | c.1772C>G (p.Pro591Arg) c.1673C>G (p.Pro558Arg) n.1516C>G c.1535C>G (p.Pro512Arg) c.1340C>G (p.Pro447Arg) c.1877C>G (p.Pro626Arg) c.1778C>G (p.Pro593Arg) c.1649C>G (p.Pro550Arg) c.1640C>G (p.Pro547Arg) c.1445C>G (p.Pro482Arg) | |
| 15 | g.50242477G>T | CA392377103 | HDC | c.1772C>A (p.Pro591Gln) c.1673C>A (p.Pro558Gln) n.1516C>A c.1535C>A (p.Pro512Gln) c.1340C>A (p.Pro447Gln) c.1877C>A (p.Pro626Gln) c.1778C>A (p.Pro593Gln) c.1649C>A (p.Pro550Gln) c.1640C>A (p.Pro547Gln) c.1445C>A (p.Pro482Gln) | |
| 15 | g.50242478G>A | CA7554496 | HDC | c.1771C>T (p.Pro591Ser) c.1672C>T (p.Pro558Ser) n.1515C>T c.1534C>T (p.Pro512Ser) c.1339C>T (p.Pro447Ser) c.1876C>T (p.Pro626Ser) c.1777C>T (p.Pro593Ser) c.1648C>T (p.Pro550Ser) c.1639C>T (p.Pro547Ser) c.1444C>T (p.Pro482Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242478G>C | CA392377106 | HDC | c.1771C>G (p.Pro591Ala) c.1672C>G (p.Pro558Ala) n.1515C>G c.1534C>G (p.Pro512Ala) c.1339C>G (p.Pro447Ala) c.1876C>G (p.Pro626Ala) c.1777C>G (p.Pro593Ala) c.1648C>G (p.Pro550Ala) c.1639C>G (p.Pro547Ala) c.1444C>G (p.Pro482Ala) | |
| 15 | g.50242478G= | CA2176326610 | HDC | c.1771C= (p.Pro591=) c.1672C= (p.Pro558=) n.1515C= c.1534C= (p.Pro512=) c.1339C= (p.Pro447=) c.1876C= (p.Pro626=) c.1777C= (p.Pro593=) c.1648C= (p.Pro550=) c.1639C= (p.Pro547=) c.1444C= (p.Pro482=) | |
| 15 | g.50242478G>T | CA392377105 | HDC | c.1771C>A (p.Pro591Thr) c.1672C>A (p.Pro558Thr) n.1515C>A c.1534C>A (p.Pro512Thr) c.1339C>A (p.Pro447Thr) c.1876C>A (p.Pro626Thr) c.1777C>A (p.Pro593Thr) c.1648C>A (p.Pro550Thr) c.1639C>A (p.Pro547Thr) c.1444C>A (p.Pro482Thr) | |
| 15 | g.50242479C>A | CA490314127 | HDC | c.1770G>T (p.Val590=) c.1671G>T (p.Val557=) n.1514G>T c.1533G>T (p.Val511=) c.1338G>T (p.Val446=) c.1875G>T (p.Val625=) c.1776G>T (p.Val592=) c.1647G>T (p.Val549=) c.1638G>T (p.Val546=) c.1443G>T (p.Val481=) | |
| 15 | g.50242479C= | CA2176326611 | HDC | c.1770G= (p.Val590=) c.1671G= (p.Val557=) n.1514G= c.1533G= (p.Val511=) c.1338G= (p.Val446=) c.1875G= (p.Val625=) c.1776G= (p.Val592=) c.1647G= (p.Val549=) c.1638G= (p.Val546=) c.1443G= (p.Val481=) | |
| 15 | g.50242479C>G | CA490314124 | HDC | c.1770G>C (p.Val590=) c.1671G>C (p.Val557=) n.1514G>C c.1533G>C (p.Val511=) c.1338G>C (p.Val446=) c.1875G>C (p.Val625=) c.1776G>C (p.Val592=) c.1647G>C (p.Val549=) c.1638G>C (p.Val546=) c.1443G>C (p.Val481=) | |
| 15 | g.50242479C>T | CA7554497 | HDC | c.1770G>A (p.Val590=) c.1671G>A (p.Val557=) n.1514G>A c.1533G>A (p.Val511=) c.1338G>A (p.Val446=) c.1875G>A (p.Val625=) c.1776G>A (p.Val592=) c.1647G>A (p.Val549=) c.1638G>A (p.Val546=) c.1443G>A (p.Val481=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242480A>C | CA392377107 | HDC | c.1769T>G (p.Val590Gly) c.1670T>G (p.Val557Gly) n.1513T>G c.1532T>G (p.Val511Gly) c.1337T>G (p.Val446Gly) c.1874T>G (p.Val625Gly) c.1775T>G (p.Val592Gly) c.1646T>G (p.Val549Gly) c.1637T>G (p.Val546Gly) c.1442T>G (p.Val481Gly) | |
| 15 | g.50242480A>G | CA392377108 | HDC | c.1769T>C (p.Val590Ala) c.1670T>C (p.Val557Ala) n.1513T>C c.1532T>C (p.Val511Ala) c.1337T>C (p.Val446Ala) c.1874T>C (p.Val625Ala) c.1775T>C (p.Val592Ala) c.1646T>C (p.Val549Ala) c.1637T>C (p.Val546Ala) c.1442T>C (p.Val481Ala) | |
| 15 | g.50242480A>T | CA392377109 | HDC | c.1769T>A (p.Val590Glu) c.1670T>A (p.Val557Glu) n.1513T>A c.1532T>A (p.Val511Glu) c.1337T>A (p.Val446Glu) c.1874T>A (p.Val625Glu) c.1775T>A (p.Val592Glu) c.1646T>A (p.Val549Glu) c.1637T>A (p.Val546Glu) c.1442T>A (p.Val481Glu) | |
| 15 | g.50242481C>A | CA392377110 | HDC | c.1768G>T (p.Val590Leu) c.1669G>T (p.Val557Leu) n.1512G>T c.1531G>T (p.Val511Leu) c.1336G>T (p.Val446Leu) c.1873G>T (p.Val625Leu) c.1774G>T (p.Val592Leu) c.1645G>T (p.Val549Leu) c.1636G>T (p.Val546Leu) c.1441G>T (p.Val481Leu) | |
| 15 | g.50242481C>G | CA392377111 | HDC | c.1768G>C (p.Val590Leu) c.1669G>C (p.Val557Leu) n.1512G>C c.1531G>C (p.Val511Leu) c.1336G>C (p.Val446Leu) c.1873G>C (p.Val625Leu) c.1774G>C (p.Val592Leu) c.1645G>C (p.Val549Leu) c.1636G>C (p.Val546Leu) c.1441G>C (p.Val481Leu) | |
| 15 | g.50242481C>T | CA392377112 | HDC | c.1768G>A (p.Val590Met) c.1669G>A (p.Val557Met) n.1512G>A c.1531G>A (p.Val511Met) c.1336G>A (p.Val446Met) c.1873G>A (p.Val625Met) c.1774G>A (p.Val592Met) c.1645G>A (p.Val549Met) c.1636G>A (p.Val546Met) c.1441G>A (p.Val481Met) | |
| 15 | g.50242482A>C | CA392377113 | HDC | c.1767T>G (p.Ser589Arg) c.1668T>G (p.Ser556Arg) n.1511T>G c.1530T>G (p.Ser510Arg) c.1335T>G (p.Ser445Arg) c.1872T>G (p.Ser624Arg) c.1773T>G (p.Ser591Arg) c.1644T>G (p.Ser548Arg) c.1635T>G (p.Ser545Arg) c.1440T>G (p.Ser480Arg) | |
| 15 | g.50242482A>G | CA490314129 | HDC | c.1767T>C (p.Ser589=) c.1668T>C (p.Ser556=) n.1511T>C c.1530T>C (p.Ser510=) c.1335T>C (p.Ser445=) c.1872T>C (p.Ser624=) c.1773T>C (p.Ser591=) c.1644T>C (p.Ser548=) c.1635T>C (p.Ser545=) c.1440T>C (p.Ser480=) | |
| 15 | g.50242482A>T | CA392377114 | HDC | c.1767T>A (p.Ser589Arg) c.1668T>A (p.Ser556Arg) n.1511T>A c.1530T>A (p.Ser510Arg) c.1335T>A (p.Ser445Arg) c.1872T>A (p.Ser624Arg) c.1773T>A (p.Ser591Arg) c.1644T>A (p.Ser548Arg) c.1635T>A (p.Ser545Arg) c.1440T>A (p.Ser480Arg) | |
| 15 | g.50242483C>A | CA392377115 | HDC | c.1766G>T (p.Ser589Ile) c.1667G>T (p.Ser556Ile) n.1510G>T c.1529G>T (p.Ser510Ile) c.1334G>T (p.Ser445Ile) c.1871G>T (p.Ser624Ile) c.1772G>T (p.Ser591Ile) c.1643G>T (p.Ser548Ile) c.1634G>T (p.Ser545Ile) c.1439G>T (p.Ser480Ile) | |
| 15 | g.50242483C>G | CA392377116 | HDC | c.1766G>C (p.Ser589Thr) c.1667G>C (p.Ser556Thr) n.1510G>C c.1529G>C (p.Ser510Thr) c.1334G>C (p.Ser445Thr) c.1871G>C (p.Ser624Thr) c.1772G>C (p.Ser591Thr) c.1643G>C (p.Ser548Thr) c.1634G>C (p.Ser545Thr) c.1439G>C (p.Ser480Thr) | |
| 15 | g.50242483C>T | CA392377117 | HDC | c.1766G>A (p.Ser589Asn) c.1667G>A (p.Ser556Asn) n.1510G>A c.1529G>A (p.Ser510Asn) c.1334G>A (p.Ser445Asn) c.1871G>A (p.Ser624Asn) c.1772G>A (p.Ser591Asn) c.1643G>A (p.Ser548Asn) c.1634G>A (p.Ser545Asn) c.1439G>A (p.Ser480Asn) | gnomAD v4 |
| 15 | g.50242484T>A | CA392377119 | HDC | c.1765A>T (p.Ser589Cys) c.1666A>T (p.Ser556Cys) n.1509A>T c.1528A>T (p.Ser510Cys) c.1333A>T (p.Ser445Cys) c.1870A>T (p.Ser624Cys) c.1771A>T (p.Ser591Cys) c.1642A>T (p.Ser548Cys) c.1633A>T (p.Ser545Cys) c.1438A>T (p.Ser480Cys) | |
| 15 | g.50242484T>C | CA7554498 | HDC | c.1765A>G (p.Ser589Gly) c.1666A>G (p.Ser556Gly) n.1509A>G c.1528A>G (p.Ser510Gly) c.1333A>G (p.Ser445Gly) c.1870A>G (p.Ser624Gly) c.1771A>G (p.Ser591Gly) c.1642A>G (p.Ser548Gly) c.1633A>G (p.Ser545Gly) c.1438A>G (p.Ser480Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242484T>G | CA392377118 | HDC | c.1765A>C (p.Ser589Arg) c.1666A>C (p.Ser556Arg) n.1509A>C c.1528A>C (p.Ser510Arg) c.1333A>C (p.Ser445Arg) c.1870A>C (p.Ser624Arg) c.1771A>C (p.Ser591Arg) c.1642A>C (p.Ser548Arg) c.1633A>C (p.Ser545Arg) c.1438A>C (p.Ser480Arg) | |
| 15 | g.50242484T= | CA2176326612 | HDC | c.1765A= (p.Ser589=) c.1666A= (p.Ser556=) n.1509A= c.1528A= (p.Ser510=) c.1333A= (p.Ser445=) c.1870A= (p.Ser624=) c.1771A= (p.Ser591=) c.1642A= (p.Ser548=) c.1633A= (p.Ser545=) c.1438A= (p.Ser480=) | |
| 15 | g.50242485G>A | CA490314131 | HDC | c.1764C>T (p.Asn588=) c.1665C>T (p.Asn555=) n.1508C>T c.1527C>T (p.Asn509=) c.1332C>T (p.Asn444=) c.1869C>T (p.Asn623=) c.1770C>T (p.Asn590=) c.1641C>T (p.Asn547=) c.1632C>T (p.Asn544=) c.1437C>T (p.Asn479=) | |
| 15 | g.50242485G>C | CA392377120 | HDC | c.1764C>G (p.Asn588Lys) c.1665C>G (p.Asn555Lys) n.1508C>G c.1527C>G (p.Asn509Lys) c.1332C>G (p.Asn444Lys) c.1869C>G (p.Asn623Lys) c.1770C>G (p.Asn590Lys) c.1641C>G (p.Asn547Lys) c.1632C>G (p.Asn544Lys) c.1437C>G (p.Asn479Lys) | |
| 15 | g.50242485G>T | CA392377121 | HDC | c.1764C>A (p.Asn588Lys) c.1665C>A (p.Asn555Lys) n.1508C>A c.1527C>A (p.Asn509Lys) c.1332C>A (p.Asn444Lys) c.1869C>A (p.Asn623Lys) c.1770C>A (p.Asn590Lys) c.1641C>A (p.Asn547Lys) c.1632C>A (p.Asn544Lys) c.1437C>A (p.Asn479Lys) | |
| 15 | g.50242486T>A | CA392377122 | HDC | c.1763A>T (p.Asn588Ile) c.1664A>T (p.Asn555Ile) n.1507A>T c.1526A>T (p.Asn509Ile) c.1331A>T (p.Asn444Ile) c.1868A>T (p.Asn623Ile) c.1769A>T (p.Asn590Ile) c.1640A>T (p.Asn547Ile) c.1631A>T (p.Asn544Ile) c.1436A>T (p.Asn479Ile) | |
| 15 | g.50242486T>C | CA392377123 | HDC | c.1763A>G (p.Asn588Ser) c.1664A>G (p.Asn555Ser) n.1507A>G c.1526A>G (p.Asn509Ser) c.1331A>G (p.Asn444Ser) c.1868A>G (p.Asn623Ser) c.1769A>G (p.Asn590Ser) c.1640A>G (p.Asn547Ser) c.1631A>G (p.Asn544Ser) c.1436A>G (p.Asn479Ser) | COSMIC |
| 15 | g.50242486T>G | CA392377124 | HDC | c.1763A>C (p.Asn588Thr) c.1664A>C (p.Asn555Thr) n.1507A>C c.1526A>C (p.Asn509Thr) c.1331A>C (p.Asn444Thr) c.1868A>C (p.Asn623Thr) c.1769A>C (p.Asn590Thr) c.1640A>C (p.Asn547Thr) c.1631A>C (p.Asn544Thr) c.1436A>C (p.Asn479Thr) | |
| 15 | g.50242487T>A | CA392377125 | HDC | c.1762A>T (p.Asn588Tyr) c.1663A>T (p.Asn555Tyr) n.1506A>T c.1525A>T (p.Asn509Tyr) c.1330A>T (p.Asn444Tyr) c.1867A>T (p.Asn623Tyr) c.1768A>T (p.Asn590Tyr) c.1639A>T (p.Asn547Tyr) c.1630A>T (p.Asn544Tyr) c.1435A>T (p.Asn479Tyr) | |
| 15 | g.50242487T>C | CA392377126 | HDC | c.1762A>G (p.Asn588Asp) c.1663A>G (p.Asn555Asp) n.1506A>G c.1525A>G (p.Asn509Asp) c.1330A>G (p.Asn444Asp) c.1867A>G (p.Asn623Asp) c.1768A>G (p.Asn590Asp) c.1639A>G (p.Asn547Asp) c.1630A>G (p.Asn544Asp) c.1435A>G (p.Asn479Asp) | |
| 15 | g.50242487T>G | CA392377127 | HDC | c.1762A>C (p.Asn588His) c.1663A>C (p.Asn555His) n.1506A>C c.1525A>C (p.Asn509His) c.1330A>C (p.Asn444His) c.1867A>C (p.Asn623His) c.1768A>C (p.Asn590His) c.1639A>C (p.Asn547His) c.1630A>C (p.Asn544His) c.1435A>C (p.Asn479His) | |
| 15 | g.50242488G>A | CA490314137 | HDC | c.1761C>T (p.Cys587=) c.1662C>T (p.Cys554=) n.1505C>T c.1524C>T (p.Cys508=) c.1329C>T (p.Cys443=) c.1866C>T (p.Cys622=) c.1767C>T (p.Cys589=) c.1638C>T (p.Cys546=) c.1629C>T (p.Cys543=) c.1434C>T (p.Cys478=) | |
| 15 | g.50242488G>C | CA392377128 | HDC | c.1761C>G (p.Cys587Trp) c.1662C>G (p.Cys554Trp) n.1505C>G c.1524C>G (p.Cys508Trp) c.1329C>G (p.Cys443Trp) c.1866C>G (p.Cys622Trp) c.1767C>G (p.Cys589Trp) c.1638C>G (p.Cys546Trp) c.1629C>G (p.Cys543Trp) c.1434C>G (p.Cys478Trp) | |
| 15 | g.50242488G>T | CA392377129 | HDC | c.1761C>A (p.Cys587Ter) c.1662C>A (p.Cys554Ter) n.1505C>A c.1524C>A (p.Cys508Ter) c.1329C>A (p.Cys443Ter) c.1866C>A (p.Cys622Ter) c.1767C>A (p.Cys589Ter) c.1638C>A (p.Cys546Ter) c.1629C>A (p.Cys543Ter) c.1434C>A (p.Cys478Ter) | |
| 15 | g.50242489C>A | CA392377132 | HDC | c.1760G>T (p.Cys587Phe) c.1661G>T (p.Cys554Phe) n.1504G>T c.1523G>T (p.Cys508Phe) c.1328G>T (p.Cys443Phe) c.1865G>T (p.Cys622Phe) c.1766G>T (p.Cys589Phe) c.1637G>T (p.Cys546Phe) c.1628G>T (p.Cys543Phe) c.1433G>T (p.Cys478Phe) | COSMIC |
| 15 | g.50242489C>G | CA392377131 | HDC | c.1760G>C (p.Cys587Ser) c.1661G>C (p.Cys554Ser) n.1504G>C c.1523G>C (p.Cys508Ser) c.1328G>C (p.Cys443Ser) c.1865G>C (p.Cys622Ser) c.1766G>C (p.Cys589Ser) c.1637G>C (p.Cys546Ser) c.1628G>C (p.Cys543Ser) c.1433G>C (p.Cys478Ser) | |
| 15 | g.50242489C>T | CA392377130 | HDC | c.1760G>A (p.Cys587Tyr) c.1661G>A (p.Cys554Tyr) n.1504G>A c.1523G>A (p.Cys508Tyr) c.1328G>A (p.Cys443Tyr) c.1865G>A (p.Cys622Tyr) c.1766G>A (p.Cys589Tyr) c.1637G>A (p.Cys546Tyr) c.1628G>A (p.Cys543Tyr) c.1433G>A (p.Cys478Tyr) | |
| 15 | g.50242490A>C | CA392377133 | HDC | c.1759T>G (p.Cys587Gly) c.1660T>G (p.Cys554Gly) n.1503T>G c.1522T>G (p.Cys508Gly) c.1327T>G (p.Cys443Gly) c.1864T>G (p.Cys622Gly) c.1765T>G (p.Cys589Gly) c.1636T>G (p.Cys546Gly) c.1627T>G (p.Cys543Gly) c.1432T>G (p.Cys478Gly) | |
| 15 | g.50242490A>G | CA392377134 | HDC | c.1759T>C (p.Cys587Arg) c.1660T>C (p.Cys554Arg) n.1503T>C c.1522T>C (p.Cys508Arg) c.1327T>C (p.Cys443Arg) c.1864T>C (p.Cys622Arg) c.1765T>C (p.Cys589Arg) c.1636T>C (p.Cys546Arg) c.1627T>C (p.Cys543Arg) c.1432T>C (p.Cys478Arg) | |
| 15 | g.50242490A>T | CA392377135 | HDC | c.1759T>A (p.Cys587Ser) c.1660T>A (p.Cys554Ser) n.1503T>A c.1522T>A (p.Cys508Ser) c.1327T>A (p.Cys443Ser) c.1864T>A (p.Cys622Ser) c.1765T>A (p.Cys589Ser) c.1636T>A (p.Cys546Ser) c.1627T>A (p.Cys543Ser) c.1432T>A (p.Cys478Ser) | |
| 15 | g.50242491A>C | CA392377136 | HDC | c.1758T>G (p.Ser586Arg) c.1659T>G (p.Ser553Arg) n.1502T>G c.1521T>G (p.Ser507Arg) c.1326T>G (p.Ser442Arg) c.1863T>G (p.Ser621Arg) c.1764T>G (p.Ser588Arg) c.1635T>G (p.Ser545Arg) c.1626T>G (p.Ser542Arg) c.1431T>G (p.Ser477Arg) | |
| 15 | g.50242491A>G | CA490314142 | HDC | c.1758T>C (p.Ser586=) c.1659T>C (p.Ser553=) n.1502T>C c.1521T>C (p.Ser507=) c.1326T>C (p.Ser442=) c.1863T>C (p.Ser621=) c.1764T>C (p.Ser588=) c.1635T>C (p.Ser545=) c.1626T>C (p.Ser542=) c.1431T>C (p.Ser477=) | |
| 15 | g.50242491A>T | CA392377137 | HDC | c.1758T>A (p.Ser586Arg) c.1659T>A (p.Ser553Arg) n.1502T>A c.1521T>A (p.Ser507Arg) c.1326T>A (p.Ser442Arg) c.1863T>A (p.Ser621Arg) c.1764T>A (p.Ser588Arg) c.1635T>A (p.Ser545Arg) c.1626T>A (p.Ser542Arg) c.1431T>A (p.Ser477Arg) | |
| 15 | g.50242492C>A | CA392377138 | HDC | c.1757G>T (p.Ser586Ile) c.1658G>T (p.Ser553Ile) n.1501G>T c.1520G>T (p.Ser507Ile) c.1325G>T (p.Ser442Ile) c.1862G>T (p.Ser621Ile) c.1763G>T (p.Ser588Ile) c.1634G>T (p.Ser545Ile) c.1625G>T (p.Ser542Ile) c.1430G>T (p.Ser477Ile) | |
| 15 | g.50242492C>G | CA392377139 | HDC | c.1757G>C (p.Ser586Thr) c.1658G>C (p.Ser553Thr) n.1501G>C c.1520G>C (p.Ser507Thr) c.1325G>C (p.Ser442Thr) c.1862G>C (p.Ser621Thr) c.1763G>C (p.Ser588Thr) c.1634G>C (p.Ser545Thr) c.1625G>C (p.Ser542Thr) c.1430G>C (p.Ser477Thr) | |
| 15 | g.50242492C>T | CA392377140 | HDC | c.1757G>A (p.Ser586Asn) c.1658G>A (p.Ser553Asn) n.1501G>A c.1520G>A (p.Ser507Asn) c.1325G>A (p.Ser442Asn) c.1862G>A (p.Ser621Asn) c.1763G>A (p.Ser588Asn) c.1634G>A (p.Ser545Asn) c.1625G>A (p.Ser542Asn) c.1430G>A (p.Ser477Asn) | |
| 15 | g.50242493T>A | CA392377141 | HDC | c.1756A>T (p.Ser586Cys) c.1657A>T (p.Ser553Cys) n.1500A>T c.1519A>T (p.Ser507Cys) c.1324A>T (p.Ser442Cys) c.1861A>T (p.Ser621Cys) c.1762A>T (p.Ser588Cys) c.1633A>T (p.Ser545Cys) c.1624A>T (p.Ser542Cys) c.1429A>T (p.Ser477Cys) | |
| 15 | g.50242493T>C | CA392377142 | HDC | c.1756A>G (p.Ser586Gly) c.1657A>G (p.Ser553Gly) n.1500A>G c.1519A>G (p.Ser507Gly) c.1324A>G (p.Ser442Gly) c.1861A>G (p.Ser621Gly) c.1762A>G (p.Ser588Gly) c.1633A>G (p.Ser545Gly) c.1624A>G (p.Ser542Gly) c.1429A>G (p.Ser477Gly) | |
| 15 | g.50242493T>G | CA392377143 | HDC | c.1756A>C (p.Ser586Arg) c.1657A>C (p.Ser553Arg) n.1500A>C c.1519A>C (p.Ser507Arg) c.1324A>C (p.Ser442Arg) c.1861A>C (p.Ser621Arg) c.1762A>C (p.Ser588Arg) c.1633A>C (p.Ser545Arg) c.1624A>C (p.Ser542Arg) c.1429A>C (p.Ser477Arg) | gnomAD v4 |
| 15 | g.50242494G>A | CA490314146 | HDC | c.1755C>T (p.Leu585=) c.1656C>T (p.Leu552=) n.1499C>T c.1518C>T (p.Leu506=) c.1323C>T (p.Leu441=) c.1860C>T (p.Leu620=) c.1761C>T (p.Leu587=) c.1632C>T (p.Leu544=) c.1623C>T (p.Leu541=) c.1428C>T (p.Leu476=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50242494G>C | CA490314147 | HDC | c.1755C>G (p.Leu585=) c.1656C>G (p.Leu552=) n.1499C>G c.1518C>G (p.Leu506=) c.1323C>G (p.Leu441=) c.1860C>G (p.Leu620=) c.1761C>G (p.Leu587=) c.1632C>G (p.Leu544=) c.1623C>G (p.Leu541=) c.1428C>G (p.Leu476=) | |
| 15 | g.50242494G= | CA2176326613 | HDC | c.1755C= (p.Leu585=) c.1656C= (p.Leu552=) n.1499C= c.1518C= (p.Leu506=) c.1323C= (p.Leu441=) c.1860C= (p.Leu620=) c.1761C= (p.Leu587=) c.1632C= (p.Leu544=) c.1623C= (p.Leu541=) c.1428C= (p.Leu476=) | |
| 15 | g.50242494G>T | CA490314149 | HDC | c.1755C>A (p.Leu585=) c.1656C>A (p.Leu552=) n.1499C>A c.1518C>A (p.Leu506=) c.1323C>A (p.Leu441=) c.1860C>A (p.Leu620=) c.1761C>A (p.Leu587=) c.1632C>A (p.Leu544=) c.1623C>A (p.Leu541=) c.1428C>A (p.Leu476=) | |
| 15 | g.50242495A>C | CA392377146 | HDC | c.1754T>G (p.Leu585Arg) c.1655T>G (p.Leu552Arg) n.1498T>G c.1517T>G (p.Leu506Arg) c.1322T>G (p.Leu441Arg) c.1859T>G (p.Leu620Arg) c.1760T>G (p.Leu587Arg) c.1631T>G (p.Leu544Arg) c.1622T>G (p.Leu541Arg) c.1427T>G (p.Leu476Arg) | |
| 15 | g.50242495A>G | CA392377145 | HDC | c.1754T>C (p.Leu585Pro) c.1655T>C (p.Leu552Pro) n.1498T>C c.1517T>C (p.Leu506Pro) c.1322T>C (p.Leu441Pro) c.1859T>C (p.Leu620Pro) c.1760T>C (p.Leu587Pro) c.1631T>C (p.Leu544Pro) c.1622T>C (p.Leu541Pro) c.1427T>C (p.Leu476Pro) | |
| 15 | g.50242495A>T | CA392377144 | HDC | c.1754T>A (p.Leu585His) c.1655T>A (p.Leu552His) n.1498T>A c.1517T>A (p.Leu506His) c.1322T>A (p.Leu441His) c.1859T>A (p.Leu620His) c.1760T>A (p.Leu587His) c.1631T>A (p.Leu544His) c.1622T>A (p.Leu541His) c.1427T>A (p.Leu476His) | |
| 15 | g.50242496G>A | CA392377147 | HDC | c.1753C>T (p.Leu585Phe) c.1654C>T (p.Leu552Phe) n.1497C>T c.1516C>T (p.Leu506Phe) c.1321C>T (p.Leu441Phe) c.1858C>T (p.Leu620Phe) c.1759C>T (p.Leu587Phe) c.1630C>T (p.Leu544Phe) c.1621C>T (p.Leu541Phe) c.1426C>T (p.Leu476Phe) | |
| 15 | g.50242496G>C | CA7554499 | HDC | c.1753C>G (p.Leu585Val) c.1654C>G (p.Leu552Val) n.1497C>G c.1516C>G (p.Leu506Val) c.1321C>G (p.Leu441Val) c.1858C>G (p.Leu620Val) c.1759C>G (p.Leu587Val) c.1630C>G (p.Leu544Val) c.1621C>G (p.Leu541Val) c.1426C>G (p.Leu476Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242496G= | CA2176326614 | HDC | c.1753C= (p.Leu585=) c.1654C= (p.Leu552=) n.1497C= c.1516C= (p.Leu506=) c.1321C= (p.Leu441=) c.1858C= (p.Leu620=) c.1759C= (p.Leu587=) c.1630C= (p.Leu544=) c.1621C= (p.Leu541=) c.1426C= (p.Leu476=) | |
| 15 | g.50242496G>T | CA392377148 | HDC | c.1753C>A (p.Leu585Ile) c.1654C>A (p.Leu552Ile) n.1497C>A c.1516C>A (p.Leu506Ile) c.1321C>A (p.Leu441Ile) c.1858C>A (p.Leu620Ile) c.1759C>A (p.Leu587Ile) c.1630C>A (p.Leu544Ile) c.1621C>A (p.Leu541Ile) c.1426C>A (p.Leu476Ile) | |
| 15 | g.50242497G>A | CA7554500 | HDC | c.1752C>T (p.Ser584=) c.1653C>T (p.Ser551=) n.1496C>T c.1515C>T (p.Ser505=) c.1320C>T (p.Ser440=) c.1857C>T (p.Ser619=) c.1758C>T (p.Ser586=) c.1629C>T (p.Ser543=) c.1620C>T (p.Ser540=) c.1425C>T (p.Ser475=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.50242497G>C | CA490314154 | HDC | c.1752C>G (p.Ser584=) c.1653C>G (p.Ser551=) n.1496C>G c.1515C>G (p.Ser505=) c.1320C>G (p.Ser440=) c.1857C>G (p.Ser619=) c.1758C>G (p.Ser586=) c.1629C>G (p.Ser543=) c.1620C>G (p.Ser540=) c.1425C>G (p.Ser475=) | |
| 15 | g.50242497G= | CA2176326615 | HDC | c.1752C= (p.Ser584=) c.1653C= (p.Ser551=) n.1496C= c.1515C= (p.Ser505=) c.1320C= (p.Ser440=) c.1857C= (p.Ser619=) c.1758C= (p.Ser586=) c.1629C= (p.Ser543=) c.1620C= (p.Ser540=) c.1425C= (p.Ser475=) | |
| 15 | g.50242497G>T | CA490314155 | HDC | c.1752C>A (p.Ser584=) c.1653C>A (p.Ser551=) n.1496C>A c.1515C>A (p.Ser505=) c.1320C>A (p.Ser440=) c.1857C>A (p.Ser619=) c.1758C>A (p.Ser586=) c.1629C>A (p.Ser543=) c.1620C>A (p.Ser540=) c.1425C>A (p.Ser475=) | |
| 15 | g.50242498G>A | CA392377149 | HDC | c.1751C>T (p.Ser584Phe) c.1652C>T (p.Ser551Phe) n.1495C>T c.1514C>T (p.Ser505Phe) c.1319C>T (p.Ser440Phe) c.1856C>T (p.Ser619Phe) c.1757C>T (p.Ser586Phe) c.1628C>T (p.Ser543Phe) c.1619C>T (p.Ser540Phe) c.1424C>T (p.Ser475Phe) | gnomAD v4 |
| 15 | g.50242498G>C | CA392377150 | HDC | c.1751C>G (p.Ser584Cys) c.1652C>G (p.Ser551Cys) n.1495C>G c.1514C>G (p.Ser505Cys) c.1319C>G (p.Ser440Cys) c.1856C>G (p.Ser619Cys) c.1757C>G (p.Ser586Cys) c.1628C>G (p.Ser543Cys) c.1619C>G (p.Ser540Cys) c.1424C>G (p.Ser475Cys) | |
| 15 | g.50242498G>T | CA392377151 | HDC | c.1751C>A (p.Ser584Tyr) c.1652C>A (p.Ser551Tyr) n.1495C>A c.1514C>A (p.Ser505Tyr) c.1319C>A (p.Ser440Tyr) c.1856C>A (p.Ser619Tyr) c.1757C>A (p.Ser586Tyr) c.1628C>A (p.Ser543Tyr) c.1619C>A (p.Ser540Tyr) c.1424C>A (p.Ser475Tyr) | |
| 15 | g.50242499A>C | CA392377152 | HDC | c.1750T>G (p.Ser584Ala) c.1651T>G (p.Ser551Ala) n.1494T>G c.1513T>G (p.Ser505Ala) c.1318T>G (p.Ser440Ala) c.1855T>G (p.Ser619Ala) c.1756T>G (p.Ser586Ala) c.1627T>G (p.Ser543Ala) c.1618T>G (p.Ser540Ala) c.1423T>G (p.Ser475Ala) | |
| 15 | g.50242499A>G | CA392377153 | HDC | c.1750T>C (p.Ser584Pro) c.1651T>C (p.Ser551Pro) n.1494T>C c.1513T>C (p.Ser505Pro) c.1318T>C (p.Ser440Pro) c.1855T>C (p.Ser619Pro) c.1756T>C (p.Ser586Pro) c.1627T>C (p.Ser543Pro) c.1618T>C (p.Ser540Pro) c.1423T>C (p.Ser475Pro) | |
| 15 | g.50242499A>T | CA392377154 | HDC | c.1750T>A (p.Ser584Thr) c.1651T>A (p.Ser551Thr) n.1494T>A c.1513T>A (p.Ser505Thr) c.1318T>A (p.Ser440Thr) c.1855T>A (p.Ser619Thr) c.1756T>A (p.Ser586Thr) c.1627T>A (p.Ser543Thr) c.1618T>A (p.Ser540Thr) c.1423T>A (p.Ser475Thr) | |
| 15 | g.50242500G>A | CA490314162 | HDC | c.1749C>T (p.Arg583=) c.1650C>T (p.Arg550=) n.1493C>T c.1512C>T (p.Arg504=) c.1317C>T (p.Arg439=) c.1854C>T (p.Arg618=) c.1755C>T (p.Arg585=) c.1626C>T (p.Arg542=) c.1617C>T (p.Arg539=) c.1422C>T (p.Arg474=) | |
| 15 | g.50242500G>C | CA490314160 | HDC | c.1749C>G (p.Arg583=) c.1650C>G (p.Arg550=) n.1493C>G c.1512C>G (p.Arg504=) c.1317C>G (p.Arg439=) c.1854C>G (p.Arg618=) c.1755C>G (p.Arg585=) c.1626C>G (p.Arg542=) c.1617C>G (p.Arg539=) c.1422C>G (p.Arg474=) | |
| 15 | g.50242500G>T | CA490314161 | HDC | c.1749C>A (p.Arg583=) c.1650C>A (p.Arg550=) n.1493C>A c.1512C>A (p.Arg504=) c.1317C>A (p.Arg439=) c.1854C>A (p.Arg618=) c.1755C>A (p.Arg585=) c.1626C>A (p.Arg542=) c.1617C>A (p.Arg539=) c.1422C>A (p.Arg474=) | |
| 15 | g.50242501C>A | CA7554502 | HDC | c.1748G>T (p.Arg583Leu) c.1649G>T (p.Arg550Leu) n.1492G>T c.1511G>T (p.Arg504Leu) c.1316G>T (p.Arg439Leu) c.1853G>T (p.Arg618Leu) c.1754G>T (p.Arg585Leu) c.1625G>T (p.Arg542Leu) c.1616G>T (p.Arg539Leu) c.1421G>T (p.Arg474Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.50242501C= | CA2176326616 | HDC | c.1748G= (p.Arg583=) c.1649G= (p.Arg550=) n.1492G= c.1511G= (p.Arg504=) c.1316G= (p.Arg439=) c.1853G= (p.Arg618=) c.1754G= (p.Arg585=) c.1625G= (p.Arg542=) c.1616G= (p.Arg539=) c.1421G= (p.Arg474=) | |
| 15 | g.50242501C>G | CA392377155 | HDC | c.1748G>C (p.Arg583Pro) c.1649G>C (p.Arg550Pro) n.1492G>C c.1511G>C (p.Arg504Pro) c.1316G>C (p.Arg439Pro) c.1853G>C (p.Arg618Pro) c.1754G>C (p.Arg585Pro) c.1625G>C (p.Arg542Pro) c.1616G>C (p.Arg539Pro) c.1421G>C (p.Arg474Pro) | |
| 15 | g.50242501C>T | CA7554501 | HDC | c.1748G>A (p.Arg583His) c.1649G>A (p.Arg550His) n.1492G>A c.1511G>A (p.Arg504His) c.1316G>A (p.Arg439His) c.1853G>A (p.Arg618His) c.1754G>A (p.Arg585His) c.1625G>A (p.Arg542His) c.1616G>A (p.Arg539His) c.1421G>A (p.Arg474His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.50242502G>A | CA270413950 | HDC | c.1747C>T (p.Arg583Cys) c.1648C>T (p.Arg550Cys) n.1491C>T c.1510C>T (p.Arg504Cys) c.1315C>T (p.Arg439Cys) c.1852C>T (p.Arg618Cys) c.1753C>T (p.Arg585Cys) c.1624C>T (p.Arg542Cys) c.1615C>T (p.Arg539Cys) c.1420C>T (p.Arg474Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242502G>C | CA392377157 | HDC | c.1747C>G (p.Arg583Gly) c.1648C>G (p.Arg550Gly) n.1491C>G c.1510C>G (p.Arg504Gly) c.1315C>G (p.Arg439Gly) c.1852C>G (p.Arg618Gly) c.1753C>G (p.Arg585Gly) c.1624C>G (p.Arg542Gly) c.1615C>G (p.Arg539Gly) c.1420C>G (p.Arg474Gly) | gnomAD v4 |
| 15 | g.50242502G= | CA2176326617 | HDC | c.1747C= (p.Arg583=) c.1648C= (p.Arg550=) n.1491C= c.1510C= (p.Arg504=) c.1315C= (p.Arg439=) c.1852C= (p.Arg618=) c.1753C= (p.Arg585=) c.1624C= (p.Arg542=) c.1615C= (p.Arg539=) c.1420C= (p.Arg474=) | |
| 15 | g.50242502G>T | CA392377156 | HDC | c.1747C>A (p.Arg583Ser) c.1648C>A (p.Arg550Ser) n.1491C>A c.1510C>A (p.Arg504Ser) c.1315C>A (p.Arg439Ser) c.1852C>A (p.Arg618Ser) c.1753C>A (p.Arg585Ser) c.1624C>A (p.Arg542Ser) c.1615C>A (p.Arg539Ser) c.1420C>A (p.Arg474Ser) | dbSNP |
| 15 | g.50242503C>A | CA490314165 | HDC | c.1746G>T (p.Val582=) c.1647G>T (p.Val549=) n.1490G>T c.1509G>T (p.Val503=) c.1314G>T (p.Val438=) c.1851G>T (p.Val617=) c.1752G>T (p.Val584=) c.1623G>T (p.Val541=) c.1614G>T (p.Val538=) c.1419G>T (p.Val473=) | |
| 15 | g.50242503C>G | CA490314166 | HDC | c.1746G>C (p.Val582=) c.1647G>C (p.Val549=) n.1490G>C c.1509G>C (p.Val503=) c.1314G>C (p.Val438=) c.1851G>C (p.Val617=) c.1752G>C (p.Val584=) c.1623G>C (p.Val541=) c.1614G>C (p.Val538=) c.1419G>C (p.Val473=) | |
| 15 | g.50242503C>T | CA490314167 | HDC | c.1746G>A (p.Val582=) c.1647G>A (p.Val549=) n.1490G>A c.1509G>A (p.Val503=) c.1314G>A (p.Val438=) c.1851G>A (p.Val617=) c.1752G>A (p.Val584=) c.1623G>A (p.Val541=) c.1614G>A (p.Val538=) c.1419G>A (p.Val473=) | |
| 15 | g.50242504A>C | CA392377159 | HDC | c.1745T>G (p.Val582Gly) c.1646T>G (p.Val549Gly) n.1489T>G c.1508T>G (p.Val503Gly) c.1313T>G (p.Val438Gly) c.1850T>G (p.Val617Gly) c.1751T>G (p.Val584Gly) c.1622T>G (p.Val541Gly) c.1613T>G (p.Val538Gly) c.1418T>G (p.Val473Gly) | |
| 15 | g.50242504A>G | CA392377158 | HDC | c.1745T>C (p.Val582Ala) c.1646T>C (p.Val549Ala) n.1489T>C c.1508T>C (p.Val503Ala) c.1313T>C (p.Val438Ala) c.1850T>C (p.Val617Ala) c.1751T>C (p.Val584Ala) c.1622T>C (p.Val541Ala) c.1613T>C (p.Val538Ala) c.1418T>C (p.Val473Ala) | gnomAD v4 |
| 15 | g.50242504A>T | CA392377160 | HDC | c.1745T>A (p.Val582Glu) c.1646T>A (p.Val549Glu) n.1489T>A c.1508T>A (p.Val503Glu) c.1313T>A (p.Val438Glu) c.1850T>A (p.Val617Glu) c.1751T>A (p.Val584Glu) c.1622T>A (p.Val541Glu) c.1613T>A (p.Val538Glu) c.1418T>A (p.Val473Glu) | |
| 15 | g.50242505C>A | CA392377161 | HDC | c.1744G>T (p.Val582Leu) c.1645G>T (p.Val549Leu) n.1488G>T c.1507G>T (p.Val503Leu) c.1312G>T (p.Val438Leu) c.1849G>T (p.Val617Leu) c.1750G>T (p.Val584Leu) c.1621G>T (p.Val541Leu) c.1612G>T (p.Val538Leu) c.1417G>T (p.Val473Leu) | dbSNP |
| 15 | g.50242505C= | CA2176326618 | HDC | c.1744G= (p.Val582=) c.1645G= (p.Val549=) n.1488G= c.1507G= (p.Val503=) c.1312G= (p.Val438=) c.1849G= (p.Val617=) c.1750G= (p.Val584=) c.1621G= (p.Val541=) c.1612G= (p.Val538=) c.1417G= (p.Val473=) | |
| 15 | g.50242505C>G | CA392377162 | HDC | c.1744G>C (p.Val582Leu) c.1645G>C (p.Val549Leu) n.1488G>C c.1507G>C (p.Val503Leu) c.1312G>C (p.Val438Leu) c.1849G>C (p.Val617Leu) c.1750G>C (p.Val584Leu) c.1621G>C (p.Val541Leu) c.1612G>C (p.Val538Leu) c.1417G>C (p.Val473Leu) | |
| 15 | g.50242505C>T | CA392377163 | HDC | c.1744G>A (p.Val582Met) c.1645G>A (p.Val549Met) n.1488G>A c.1507G>A (p.Val503Met) c.1312G>A (p.Val438Met) c.1849G>A (p.Val617Met) c.1750G>A (p.Val584Met) c.1621G>A (p.Val541Met) c.1612G>A (p.Val538Met) c.1417G>A (p.Val473Met) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242506C>A | CA490314168 | HDC | c.1743G>T (p.Thr581=) c.1644G>T (p.Thr548=) n.1487G>T c.1506G>T (p.Thr502=) c.1311G>T (p.Thr437=) c.1848G>T (p.Thr616=) c.1749G>T (p.Thr583=) c.1620G>T (p.Thr540=) c.1611G>T (p.Thr537=) c.1416G>T (p.Thr472=) | |
| 15 | g.50242506C= | CA2176326619 | HDC | c.1743G= (p.Thr581=) c.1644G= (p.Thr548=) n.1487G= c.1506G= (p.Thr502=) c.1311G= (p.Thr437=) c.1848G= (p.Thr616=) c.1749G= (p.Thr583=) c.1620G= (p.Thr540=) c.1611G= (p.Thr537=) c.1416G= (p.Thr472=) | |
| 15 | g.50242506C>G | CA490314169 | HDC | c.1743G>C (p.Thr581=) c.1644G>C (p.Thr548=) n.1487G>C c.1506G>C (p.Thr502=) c.1311G>C (p.Thr437=) c.1848G>C (p.Thr616=) c.1749G>C (p.Thr583=) c.1620G>C (p.Thr540=) c.1611G>C (p.Thr537=) c.1416G>C (p.Thr472=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242506C>T | CA7554503 | HDC | c.1743G>A (p.Thr581=) c.1644G>A (p.Thr548=) n.1487G>A c.1506G>A (p.Thr502=) c.1311G>A (p.Thr437=) c.1848G>A (p.Thr616=) c.1749G>A (p.Thr583=) c.1620G>A (p.Thr540=) c.1611G>A (p.Thr537=) c.1416G>A (p.Thr472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242507G>A | CA7554504 | HDC | c.1742C>T (p.Thr581Met) c.1643C>T (p.Thr548Met) n.1486C>T c.1505C>T (p.Thr502Met) c.1310C>T (p.Thr437Met) c.1847C>T (p.Thr616Met) c.1748C>T (p.Thr583Met) c.1619C>T (p.Thr540Met) c.1610C>T (p.Thr537Met) c.1415C>T (p.Thr472Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242507G>C | CA392377164 | HDC | c.1742C>G (p.Thr581Arg) c.1643C>G (p.Thr548Arg) n.1486C>G c.1505C>G (p.Thr502Arg) c.1310C>G (p.Thr437Arg) c.1847C>G (p.Thr616Arg) c.1748C>G (p.Thr583Arg) c.1619C>G (p.Thr540Arg) c.1610C>G (p.Thr537Arg) c.1415C>G (p.Thr472Arg) | |
| 15 | g.50242507G= | CA2176326620 | HDC | c.1742C= (p.Thr581=) c.1643C= (p.Thr548=) n.1486C= c.1505C= (p.Thr502=) c.1310C= (p.Thr437=) c.1847C= (p.Thr616=) c.1748C= (p.Thr583=) c.1619C= (p.Thr540=) c.1610C= (p.Thr537=) c.1415C= (p.Thr472=) | |
| 15 | g.50242507G>T | CA7554506 | HDC | c.1742C>A (p.Thr581Lys) c.1643C>A (p.Thr548Lys) n.1486C>A c.1505C>A (p.Thr502Lys) c.1310C>A (p.Thr437Lys) c.1847C>A (p.Thr616Lys) c.1748C>A (p.Thr583Lys) c.1619C>A (p.Thr540Lys) c.1610C>A (p.Thr537Lys) c.1415C>A (p.Thr472Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242507_50242510delinsGTCT | CA2176326621 | HDC | c.1739_1742delinsAGAC (p.Lys580=) c.1640_1643delinsAGAC (p.Lys547=) n.1483_1486delinsAGAC c.1502_1505delinsAGAC (p.Lys501=) c.1307_1310delinsAGAC (p.Lys436=) c.1844_1847delinsAGAC (p.Lys615=) c.1745_1748delinsAGAC (p.Lys582=) c.1616_1619delinsAGAC (p.Lys539=) c.1607_1610delinsAGAC (p.Lys536=) c.1412_1415delinsAGAC (p.Lys471=) | |
| 15 | g.50242508T>A | CA392377165 | HDC | c.1741A>T (p.Thr581Ser) c.1642A>T (p.Thr548Ser) n.1485A>T c.1504A>T (p.Thr502Ser) c.1309A>T (p.Thr437Ser) c.1846A>T (p.Thr616Ser) c.1747A>T (p.Thr583Ser) c.1618A>T (p.Thr540Ser) c.1609A>T (p.Thr537Ser) c.1414A>T (p.Thr472Ser) | |
| 15 | g.50242508T>C | CA392377166 | HDC | c.1741A>G (p.Thr581Ala) c.1642A>G (p.Thr548Ala) n.1485A>G c.1504A>G (p.Thr502Ala) c.1309A>G (p.Thr437Ala) c.1846A>G (p.Thr616Ala) c.1747A>G (p.Thr583Ala) c.1618A>G (p.Thr540Ala) c.1609A>G (p.Thr537Ala) c.1414A>G (p.Thr472Ala) | |
| 15 | g.50242508T>G | CA392377167 | HDC | c.1741A>C (p.Thr581Pro) c.1642A>C (p.Thr548Pro) n.1485A>C c.1504A>C (p.Thr502Pro) c.1309A>C (p.Thr437Pro) c.1846A>C (p.Thr616Pro) c.1747A>C (p.Thr583Pro) c.1618A>C (p.Thr540Pro) c.1609A>C (p.Thr537Pro) c.1414A>C (p.Thr472Pro) | |
| 15 | g.50242515_50242517dup | CA2176326622 | HDC | c.1739_1741dup (p.Lys580_Thr581insLys) c.1640_1642dup (p.Lys547_Thr548insLys) n.1483_1485dup c.1502_1504dup (p.Lys501_Thr502insLys) c.1307_1309dup (p.Lys436_Thr437insLys) c.1844_1846dup (p.Lys615_Thr616insLys) c.1745_1747dup (p.Lys582_Thr583insLys) c.1616_1618dup (p.Lys539_Thr540insLys) c.1607_1609dup (p.Lys536_Thr537insLys) c.1412_1414dup (p.Lys471_Thr472insLys) | dbSNP gnomAD v4 |
| 15 | g.50242515_50242517del | CA7554505 | HDC | c.1739_1741del (p.Lys580del) c.1640_1642del (p.Lys547del) n.1483_1485del c.1502_1504del (p.Lys501del) c.1307_1309del (p.Lys436del) c.1844_1846del (p.Lys615del) c.1745_1747del (p.Lys582del) c.1616_1618del (p.Lys539del) c.1607_1609del (p.Lys536del) c.1412_1414del (p.Lys471del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242509C>A | CA392377168 | HDC | c.1740G>T (p.Lys580Asn) c.1641G>T (p.Lys547Asn) n.1484G>T c.1503G>T (p.Lys501Asn) c.1308G>T (p.Lys436Asn) c.1845G>T (p.Lys615Asn) c.1746G>T (p.Lys582Asn) c.1617G>T (p.Lys539Asn) c.1608G>T (p.Lys536Asn) c.1413G>T (p.Lys471Asn) | |
| 15 | g.50242509C= | CA2176326623 | HDC | c.1740G= (p.Lys580=) c.1641G= (p.Lys547=) n.1484G= c.1503G= (p.Lys501=) c.1308G= (p.Lys436=) c.1845G= (p.Lys615=) c.1746G= (p.Lys582=) c.1617G= (p.Lys539=) c.1608G= (p.Lys536=) c.1413G= (p.Lys471=) | |
| 15 | g.50242509C>G | CA392377169 | HDC | c.1740G>C (p.Lys580Asn) c.1641G>C (p.Lys547Asn) n.1484G>C c.1503G>C (p.Lys501Asn) c.1308G>C (p.Lys436Asn) c.1845G>C (p.Lys615Asn) c.1746G>C (p.Lys582Asn) c.1617G>C (p.Lys539Asn) c.1608G>C (p.Lys536Asn) c.1413G>C (p.Lys471Asn) | |
| 15 | g.50242509C>T | CA490314177 | HDC | c.1740G>A (p.Lys580=) c.1641G>A (p.Lys547=) n.1484G>A c.1503G>A (p.Lys501=) c.1308G>A (p.Lys436=) c.1845G>A (p.Lys615=) c.1746G>A (p.Lys582=) c.1617G>A (p.Lys539=) c.1608G>A (p.Lys536=) c.1413G>A (p.Lys471=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50242510T>A | CA392377170 | HDC | c.1739A>T (p.Lys580Met) c.1640A>T (p.Lys547Met) n.1483A>T c.1502A>T (p.Lys501Met) c.1307A>T (p.Lys436Met) c.1844A>T (p.Lys615Met) c.1745A>T (p.Lys582Met) c.1616A>T (p.Lys539Met) c.1607A>T (p.Lys536Met) c.1412A>T (p.Lys471Met) | |
| 15 | g.50242510T>C | CA392377171 | HDC | c.1739A>G (p.Lys580Arg) c.1640A>G (p.Lys547Arg) n.1483A>G c.1502A>G (p.Lys501Arg) c.1307A>G (p.Lys436Arg) c.1844A>G (p.Lys615Arg) c.1745A>G (p.Lys582Arg) c.1616A>G (p.Lys539Arg) c.1607A>G (p.Lys536Arg) c.1412A>G (p.Lys471Arg) | |
| 15 | g.50242510T>G | CA7554507 | HDC | c.1739A>C (p.Lys580Thr) c.1640A>C (p.Lys547Thr) n.1483A>C c.1502A>C (p.Lys501Thr) c.1307A>C (p.Lys436Thr) c.1844A>C (p.Lys615Thr) c.1745A>C (p.Lys582Thr) c.1616A>C (p.Lys539Thr) c.1607A>C (p.Lys536Thr) c.1412A>C (p.Lys471Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242510T= | CA2176326624 | HDC | c.1739A= (p.Lys580=) c.1640A= (p.Lys547=) n.1483A= c.1502A= (p.Lys501=) c.1307A= (p.Lys436=) c.1844A= (p.Lys615=) c.1745A= (p.Lys582=) c.1616A= (p.Lys539=) c.1607A= (p.Lys536=) c.1412A= (p.Lys471=) | |
| 15 | g.50242511del | CA2628396369 | HDC | c.1739del (p.Lys580ArgfsTer13) c.1640del (p.Lys547ArgfsTer13) n.1483del c.1502del (p.Lys501ArgfsTer13) c.1307del (p.Lys436ArgfsTer13) c.1844del (p.Lys615ArgfsTer13) c.1745del (p.Lys582ArgfsTer13) c.1616del (p.Lys539ArgfsTer13) c.1607del (p.Lys536ArgfsTer13) c.1412del (p.Lys471ArgfsTer13) | gnomAD v4 |
| 15 | g.50242511T>A | CA392377172 | HDC | c.1738A>T (p.Lys580Ter) c.1639A>T (p.Lys547Ter) n.1482A>T c.1501A>T (p.Lys501Ter) c.1306A>T (p.Lys436Ter) c.1843A>T (p.Lys615Ter) c.1744A>T (p.Lys582Ter) c.1615A>T (p.Lys539Ter) c.1606A>T (p.Lys536Ter) c.1411A>T (p.Lys471Ter) | |
| 15 | g.50242511T>C | CA392377173 | HDC | c.1738A>G (p.Lys580Glu) c.1639A>G (p.Lys547Glu) n.1482A>G c.1501A>G (p.Lys501Glu) c.1306A>G (p.Lys436Glu) c.1843A>G (p.Lys615Glu) c.1744A>G (p.Lys582Glu) c.1615A>G (p.Lys539Glu) c.1606A>G (p.Lys536Glu) c.1411A>G (p.Lys471Glu) | gnomAD v4 |
| 15 | g.50242511T>G | CA392377174 | HDC | c.1738A>C (p.Lys580Gln) c.1639A>C (p.Lys547Gln) n.1482A>C c.1501A>C (p.Lys501Gln) c.1306A>C (p.Lys436Gln) c.1843A>C (p.Lys615Gln) c.1744A>C (p.Lys582Gln) c.1615A>C (p.Lys539Gln) c.1606A>C (p.Lys536Gln) c.1411A>C (p.Lys471Gln) | |
| 15 | g.50242512C>A | CA392377175 | HDC | c.1737G>T (p.Lys579Asn) c.1638G>T (p.Lys546Asn) n.1481G>T c.1500G>T (p.Lys500Asn) c.1305G>T (p.Lys435Asn) c.1842G>T (p.Lys614Asn) c.1743G>T (p.Lys581Asn) c.1614G>T (p.Lys538Asn) c.1605G>T (p.Lys535Asn) c.1410G>T (p.Lys470Asn) | |
| 15 | g.50242512C>G | CA392377176 | HDC | c.1737G>C (p.Lys579Asn) c.1638G>C (p.Lys546Asn) n.1481G>C c.1500G>C (p.Lys500Asn) c.1305G>C (p.Lys435Asn) c.1842G>C (p.Lys614Asn) c.1743G>C (p.Lys581Asn) c.1614G>C (p.Lys538Asn) c.1605G>C (p.Lys535Asn) c.1410G>C (p.Lys470Asn) | |
| 15 | g.50242512C>T | CA490314179 | HDC | c.1737G>A (p.Lys579=) c.1638G>A (p.Lys546=) n.1481G>A c.1500G>A (p.Lys500=) c.1305G>A (p.Lys435=) c.1842G>A (p.Lys614=) c.1743G>A (p.Lys581=) c.1614G>A (p.Lys538=) c.1605G>A (p.Lys535=) c.1410G>A (p.Lys470=) | |
| 15 | g.50242513T>A | CA392377177 | HDC | c.1736A>T (p.Lys579Met) c.1637A>T (p.Lys546Met) n.1480A>T c.1499A>T (p.Lys500Met) c.1304A>T (p.Lys435Met) c.1841A>T (p.Lys614Met) c.1742A>T (p.Lys581Met) c.1613A>T (p.Lys538Met) c.1604A>T (p.Lys535Met) c.1409A>T (p.Lys470Met) | |
| 15 | g.50242513T>C | CA392377178 | HDC | c.1736A>G (p.Lys579Arg) c.1637A>G (p.Lys546Arg) n.1480A>G c.1499A>G (p.Lys500Arg) c.1304A>G (p.Lys435Arg) c.1841A>G (p.Lys614Arg) c.1742A>G (p.Lys581Arg) c.1613A>G (p.Lys538Arg) c.1604A>G (p.Lys535Arg) c.1409A>G (p.Lys470Arg) | |
| 15 | g.50242513T>G | CA392377179 | HDC | c.1736A>C (p.Lys579Thr) c.1637A>C (p.Lys546Thr) n.1480A>C c.1499A>C (p.Lys500Thr) c.1304A>C (p.Lys435Thr) c.1841A>C (p.Lys614Thr) c.1742A>C (p.Lys581Thr) c.1613A>C (p.Lys538Thr) c.1604A>C (p.Lys535Thr) c.1409A>C (p.Lys470Thr) | |
| 15 | g.50242514T>A | CA392377180 | HDC | c.1735A>T (p.Lys579Ter) c.1636A>T (p.Lys546Ter) n.1479A>T c.1498A>T (p.Lys500Ter) c.1303A>T (p.Lys435Ter) c.1840A>T (p.Lys614Ter) c.1741A>T (p.Lys581Ter) c.1612A>T (p.Lys538Ter) c.1603A>T (p.Lys535Ter) c.1408A>T (p.Lys470Ter) | |
| 15 | g.50242514T>C | CA392377181 | HDC | c.1735A>G (p.Lys579Glu) c.1636A>G (p.Lys546Glu) n.1479A>G c.1498A>G (p.Lys500Glu) c.1303A>G (p.Lys435Glu) c.1840A>G (p.Lys614Glu) c.1741A>G (p.Lys581Glu) c.1612A>G (p.Lys538Glu) c.1603A>G (p.Lys535Glu) c.1408A>G (p.Lys470Glu) | |
| 15 | g.50242514T>G | CA392377182 | HDC | c.1735A>C (p.Lys579Gln) c.1636A>C (p.Lys546Gln) n.1479A>C c.1498A>C (p.Lys500Gln) c.1303A>C (p.Lys435Gln) c.1840A>C (p.Lys614Gln) c.1741A>C (p.Lys581Gln) c.1612A>C (p.Lys538Gln) c.1603A>C (p.Lys535Gln) c.1408A>C (p.Lys470Gln) | |
| 15 | g.50242515C>A | CA392377184 | HDC | c.1734G>T (p.Lys578Asn) c.1635G>T (p.Lys545Asn) n.1478G>T c.1497G>T (p.Lys499Asn) c.1302G>T (p.Lys434Asn) c.1839G>T (p.Lys613Asn) c.1740G>T (p.Lys580Asn) c.1611G>T (p.Lys537Asn) c.1602G>T (p.Lys534Asn) c.1407G>T (p.Lys469Asn) | |
| 15 | g.50242515C>G | CA392377183 | HDC | c.1734G>C (p.Lys578Asn) c.1635G>C (p.Lys545Asn) n.1478G>C c.1497G>C (p.Lys499Asn) c.1302G>C (p.Lys434Asn) c.1839G>C (p.Lys613Asn) c.1740G>C (p.Lys580Asn) c.1611G>C (p.Lys537Asn) c.1602G>C (p.Lys534Asn) c.1407G>C (p.Lys469Asn) | |
| 15 | g.50242515C>T | CA490314183 | HDC | c.1734G>A (p.Lys578=) c.1635G>A (p.Lys545=) n.1478G>A c.1497G>A (p.Lys499=) c.1302G>A (p.Lys434=) c.1839G>A (p.Lys613=) c.1740G>A (p.Lys580=) c.1611G>A (p.Lys537=) c.1602G>A (p.Lys534=) c.1407G>A (p.Lys469=) | |
| 15 | g.50242516T>A | CA392377185 | HDC | c.1733A>T (p.Lys578Met) c.1634A>T (p.Lys545Met) n.1477A>T c.1496A>T (p.Lys499Met) c.1301A>T (p.Lys434Met) c.1838A>T (p.Lys613Met) c.1739A>T (p.Lys580Met) c.1610A>T (p.Lys537Met) c.1601A>T (p.Lys534Met) c.1406A>T (p.Lys469Met) | |
| 15 | g.50242516T>C | CA392377186 | HDC | c.1733A>G (p.Lys578Arg) c.1634A>G (p.Lys545Arg) n.1477A>G c.1496A>G (p.Lys499Arg) c.1301A>G (p.Lys434Arg) c.1838A>G (p.Lys613Arg) c.1739A>G (p.Lys580Arg) c.1610A>G (p.Lys537Arg) c.1601A>G (p.Lys534Arg) c.1406A>G (p.Lys469Arg) | |
| 15 | g.50242516T>G | CA392377187 | HDC | c.1733A>C (p.Lys578Thr) c.1634A>C (p.Lys545Thr) n.1477A>C c.1496A>C (p.Lys499Thr) c.1301A>C (p.Lys434Thr) c.1838A>C (p.Lys613Thr) c.1739A>C (p.Lys580Thr) c.1610A>C (p.Lys537Thr) c.1601A>C (p.Lys534Thr) c.1406A>C (p.Lys469Thr) | |
| 15 | g.50242517T>A | CA392377188 | HDC | c.1732A>T (p.Lys578Ter) c.1633A>T (p.Lys545Ter) n.1476A>T c.1495A>T (p.Lys499Ter) c.1300A>T (p.Lys434Ter) c.1837A>T (p.Lys613Ter) c.1738A>T (p.Lys580Ter) c.1609A>T (p.Lys537Ter) c.1600A>T (p.Lys534Ter) c.1405A>T (p.Lys469Ter) | |
| 15 | g.50242517T>C | CA392377189 | HDC | c.1732A>G (p.Lys578Glu) c.1633A>G (p.Lys545Glu) n.1476A>G c.1495A>G (p.Lys499Glu) c.1300A>G (p.Lys434Glu) c.1837A>G (p.Lys613Glu) c.1738A>G (p.Lys580Glu) c.1609A>G (p.Lys537Glu) c.1600A>G (p.Lys534Glu) c.1405A>G (p.Lys469Glu) | dbSNP |
| 15 | g.50242517T>G | CA392377190 | HDC | c.1732A>C (p.Lys578Gln) c.1633A>C (p.Lys545Gln) n.1476A>C c.1495A>C (p.Lys499Gln) c.1300A>C (p.Lys434Gln) c.1837A>C (p.Lys613Gln) c.1738A>C (p.Lys580Gln) c.1609A>C (p.Lys537Gln) c.1600A>C (p.Lys534Gln) c.1405A>C (p.Lys469Gln) | |
| 15 | g.50242517T= | CA2176326625 | HDC | c.1732A= (p.Lys578=) c.1633A= (p.Lys545=) n.1476A= c.1495A= (p.Lys499=) c.1300A= (p.Lys434=) c.1837A= (p.Lys613=) c.1738A= (p.Lys580=) c.1609A= (p.Lys537=) c.1600A= (p.Lys534=) c.1405A= (p.Lys469=) | |
| 15 | g.50242518A>C | CA490314186 | HDC | c.1731T>G (p.Thr577=) c.1632T>G (p.Thr544=) n.1475T>G c.1494T>G (p.Thr498=) c.1299T>G (p.Thr433=) c.1836T>G (p.Thr612=) c.1737T>G (p.Thr579=) c.1608T>G (p.Thr536=) c.1599T>G (p.Thr533=) c.1404T>G (p.Thr468=) | |
| 15 | g.50242518A>G | CA490314188 | HDC | c.1731T>C (p.Thr577=) c.1632T>C (p.Thr544=) n.1475T>C c.1494T>C (p.Thr498=) c.1299T>C (p.Thr433=) c.1836T>C (p.Thr612=) c.1737T>C (p.Thr579=) c.1608T>C (p.Thr536=) c.1599T>C (p.Thr533=) c.1404T>C (p.Thr468=) | |
| 15 | g.50242518A>T | CA490314190 | HDC | c.1731T>A (p.Thr577=) c.1632T>A (p.Thr544=) n.1475T>A c.1494T>A (p.Thr498=) c.1299T>A (p.Thr433=) c.1836T>A (p.Thr612=) c.1737T>A (p.Thr579=) c.1608T>A (p.Thr536=) c.1599T>A (p.Thr533=) c.1404T>A (p.Thr468=) | |
| 15 | g.50242519G>A | CA392377193 | HDC | c.1730C>T (p.Thr577Ile) c.1631C>T (p.Thr544Ile) n.1474C>T c.1493C>T (p.Thr498Ile) c.1298C>T (p.Thr433Ile) c.1835C>T (p.Thr612Ile) c.1736C>T (p.Thr579Ile) c.1607C>T (p.Thr536Ile) c.1598C>T (p.Thr533Ile) c.1403C>T (p.Thr468Ile) | |
| 15 | g.50242519G>C | CA392377191 | HDC | c.1730C>G (p.Thr577Ser) c.1631C>G (p.Thr544Ser) n.1474C>G c.1493C>G (p.Thr498Ser) c.1298C>G (p.Thr433Ser) c.1835C>G (p.Thr612Ser) c.1736C>G (p.Thr579Ser) c.1607C>G (p.Thr536Ser) c.1598C>G (p.Thr533Ser) c.1403C>G (p.Thr468Ser) | |
| 15 | g.50242519G>T | CA392377192 | HDC | c.1730C>A (p.Thr577Asn) c.1631C>A (p.Thr544Asn) n.1474C>A c.1493C>A (p.Thr498Asn) c.1298C>A (p.Thr433Asn) c.1835C>A (p.Thr612Asn) c.1736C>A (p.Thr579Asn) c.1607C>A (p.Thr536Asn) c.1598C>A (p.Thr533Asn) c.1403C>A (p.Thr468Asn) | |
| 15 | g.50242520T>A | CA7554508 | HDC | c.1729A>T (p.Thr577Ser) c.1630A>T (p.Thr544Ser) n.1473A>T c.1492A>T (p.Thr498Ser) c.1297A>T (p.Thr433Ser) c.1834A>T (p.Thr612Ser) c.1735A>T (p.Thr579Ser) c.1606A>T (p.Thr536Ser) c.1597A>T (p.Thr533Ser) c.1402A>T (p.Thr468Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242520T>C | CA392377194 | HDC | c.1729A>G (p.Thr577Ala) c.1630A>G (p.Thr544Ala) n.1473A>G c.1492A>G (p.Thr498Ala) c.1297A>G (p.Thr433Ala) c.1834A>G (p.Thr612Ala) c.1735A>G (p.Thr579Ala) c.1606A>G (p.Thr536Ala) c.1597A>G (p.Thr533Ala) c.1402A>G (p.Thr468Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50242520T>G | CA392377195 | HDC | c.1729A>C (p.Thr577Pro) c.1630A>C (p.Thr544Pro) n.1473A>C c.1492A>C (p.Thr498Pro) c.1297A>C (p.Thr433Pro) c.1834A>C (p.Thr612Pro) c.1735A>C (p.Thr579Pro) c.1606A>C (p.Thr536Pro) c.1597A>C (p.Thr533Pro) c.1402A>C (p.Thr468Pro) | |
| 15 | g.50242520T= | CA2176326626 | HDC | c.1729A= (p.Thr577=) c.1630A= (p.Thr544=) n.1473A= c.1492A= (p.Thr498=) c.1297A= (p.Thr433=) c.1834A= (p.Thr612=) c.1735A= (p.Thr579=) c.1606A= (p.Thr536=) c.1597A= (p.Thr533=) c.1402A= (p.Thr468=) | |
| 15 | g.50242521C>A | CA392377196 | HDC | c.1728G>T (p.Gln576His) c.1629G>T (p.Gln543His) n.1472G>T c.1491G>T (p.Gln497His) c.1296G>T (p.Gln432His) c.1833G>T (p.Gln611His) c.1734G>T (p.Gln578His) c.1605G>T (p.Gln535His) c.1596G>T (p.Gln532His) c.1401G>T (p.Gln467His) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50242521C= | CA2176326627 | HDC | c.1728G= (p.Gln576=) c.1629G= (p.Gln543=) n.1472G= c.1491G= (p.Gln497=) c.1296G= (p.Gln432=) c.1833G= (p.Gln611=) c.1734G= (p.Gln578=) c.1605G= (p.Gln535=) c.1596G= (p.Gln532=) c.1401G= (p.Gln467=) | |
| 15 | g.50242521C>G | CA392377197 | HDC | c.1728G>C (p.Gln576His) c.1629G>C (p.Gln543His) n.1472G>C c.1491G>C (p.Gln497His) c.1296G>C (p.Gln432His) c.1833G>C (p.Gln611His) c.1734G>C (p.Gln578His) c.1605G>C (p.Gln535His) c.1596G>C (p.Gln532His) c.1401G>C (p.Gln467His) | |
| 15 | g.50242521C>T | CA490314192 | HDC | c.1728G>A (p.Gln576=) c.1629G>A (p.Gln543=) n.1472G>A c.1491G>A (p.Gln497=) c.1296G>A (p.Gln432=) c.1833G>A (p.Gln611=) c.1734G>A (p.Gln578=) c.1605G>A (p.Gln535=) c.1596G>A (p.Gln532=) c.1401G>A (p.Gln467=) | |
| 15 | g.50242522T>A | CA392377198 | HDC | c.1727A>T (p.Gln576Leu) c.1628A>T (p.Gln543Leu) n.1471A>T c.1490A>T (p.Gln497Leu) c.1295A>T (p.Gln432Leu) c.1832A>T (p.Gln611Leu) c.1733A>T (p.Gln578Leu) c.1604A>T (p.Gln535Leu) c.1595A>T (p.Gln532Leu) c.1400A>T (p.Gln467Leu) | |
| 15 | g.50242522T>C | CA392377200 | HDC | c.1727A>G (p.Gln576Arg) c.1628A>G (p.Gln543Arg) n.1471A>G c.1490A>G (p.Gln497Arg) c.1295A>G (p.Gln432Arg) c.1832A>G (p.Gln611Arg) c.1733A>G (p.Gln578Arg) c.1604A>G (p.Gln535Arg) c.1595A>G (p.Gln532Arg) c.1400A>G (p.Gln467Arg) | |
| 15 | g.50242522T>G | CA392377199 | HDC | c.1727A>C (p.Gln576Pro) c.1628A>C (p.Gln543Pro) n.1471A>C c.1490A>C (p.Gln497Pro) c.1295A>C (p.Gln432Pro) c.1832A>C (p.Gln611Pro) c.1733A>C (p.Gln578Pro) c.1604A>C (p.Gln535Pro) c.1595A>C (p.Gln532Pro) c.1400A>C (p.Gln467Pro) | |
| 15 | g.50242523G>A | CA392377201 | HDC | c.1726C>T (p.Gln576Ter) c.1627C>T (p.Gln543Ter) n.1470C>T c.1489C>T (p.Gln497Ter) c.1294C>T (p.Gln432Ter) c.1831C>T (p.Gln611Ter) c.1732C>T (p.Gln578Ter) c.1603C>T (p.Gln535Ter) c.1594C>T (p.Gln532Ter) c.1399C>T (p.Gln467Ter) | dbSNP |
| 15 | g.50242523G>C | CA392377202 | HDC | c.1726C>G (p.Gln576Glu) c.1627C>G (p.Gln543Glu) n.1470C>G c.1489C>G (p.Gln497Glu) c.1294C>G (p.Gln432Glu) c.1831C>G (p.Gln611Glu) c.1732C>G (p.Gln578Glu) c.1603C>G (p.Gln535Glu) c.1594C>G (p.Gln532Glu) c.1399C>G (p.Gln467Glu) | |
| 15 | g.50242523G= | CA2176326628 | HDC | c.1726C= (p.Gln576=) c.1627C= (p.Gln543=) n.1470C= c.1489C= (p.Gln497=) c.1294C= (p.Gln432=) c.1831C= (p.Gln611=) c.1732C= (p.Gln578=) c.1603C= (p.Gln535=) c.1594C= (p.Gln532=) c.1399C= (p.Gln467=) | |
| 15 | g.50242523G>T | CA392377203 | HDC | c.1726C>A (p.Gln576Lys) c.1627C>A (p.Gln543Lys) n.1470C>A c.1489C>A (p.Gln497Lys) c.1294C>A (p.Gln432Lys) c.1831C>A (p.Gln611Lys) c.1732C>A (p.Gln578Lys) c.1603C>A (p.Gln535Lys) c.1594C>A (p.Gln532Lys) c.1399C>A (p.Gln467Lys) | |
| 15 | g.50242524C>A | CA490314193 | HDC | c.1725G>T (p.Val575=) c.1626G>T (p.Val542=) n.1469G>T c.1488G>T (p.Val496=) c.1293G>T (p.Val431=) c.1830G>T (p.Val610=) c.1731G>T (p.Val577=) c.1602G>T (p.Val534=) c.1593G>T (p.Val531=) c.1398G>T (p.Val466=) | dbSNP |
| 15 | g.50242524C= | CA2176326629 | HDC | c.1725G= (p.Val575=) c.1626G= (p.Val542=) n.1469G= c.1488G= (p.Val496=) c.1293G= (p.Val431=) c.1830G= (p.Val610=) c.1731G= (p.Val577=) c.1602G= (p.Val534=) c.1593G= (p.Val531=) c.1398G= (p.Val466=) | |
| 15 | g.50242524C>G | CA490314194 | HDC | c.1725G>C (p.Val575=) c.1626G>C (p.Val542=) n.1469G>C c.1488G>C (p.Val496=) c.1293G>C (p.Val431=) c.1830G>C (p.Val610=) c.1731G>C (p.Val577=) c.1602G>C (p.Val534=) c.1593G>C (p.Val531=) c.1398G>C (p.Val466=) | |
| 15 | g.50242524C>T | CA490314195 | HDC | c.1725G>A (p.Val575=) c.1626G>A (p.Val542=) n.1469G>A c.1488G>A (p.Val496=) c.1293G>A (p.Val431=) c.1830G>A (p.Val610=) c.1731G>A (p.Val577=) c.1602G>A (p.Val534=) c.1593G>A (p.Val531=) c.1398G>A (p.Val466=) | |
| 15 | g.50242525A>C | CA392377204 | HDC | c.1724T>G (p.Val575Gly) c.1625T>G (p.Val542Gly) n.1468T>G c.1487T>G (p.Val496Gly) c.1292T>G (p.Val431Gly) c.1829T>G (p.Val610Gly) c.1730T>G (p.Val577Gly) c.1601T>G (p.Val534Gly) c.1592T>G (p.Val531Gly) c.1397T>G (p.Val466Gly) | |
| 15 | g.50242525A>G | CA392377205 | HDC | c.1724T>C (p.Val575Ala) c.1625T>C (p.Val542Ala) n.1468T>C c.1487T>C (p.Val496Ala) c.1292T>C (p.Val431Ala) c.1829T>C (p.Val610Ala) c.1730T>C (p.Val577Ala) c.1601T>C (p.Val534Ala) c.1592T>C (p.Val531Ala) c.1397T>C (p.Val466Ala) | |
| 15 | g.50242525A>T | CA392377206 | HDC | c.1724T>A (p.Val575Glu) c.1625T>A (p.Val542Glu) n.1468T>A c.1487T>A (p.Val496Glu) c.1292T>A (p.Val431Glu) c.1829T>A (p.Val610Glu) c.1730T>A (p.Val577Glu) c.1601T>A (p.Val534Glu) c.1592T>A (p.Val531Glu) c.1397T>A (p.Val466Glu) | |
| 15 | g.50242526C>A | CA392377207 | HDC | c.1723G>T (p.Val575Leu) c.1624G>T (p.Val542Leu) n.1467G>T c.1486G>T (p.Val496Leu) c.1291G>T (p.Val431Leu) c.1828G>T (p.Val610Leu) c.1729G>T (p.Val577Leu) c.1600G>T (p.Val534Leu) c.1591G>T (p.Val531Leu) c.1396G>T (p.Val466Leu) | |
| 15 | g.50242526C>G | CA392377208 | HDC | c.1723G>C (p.Val575Leu) c.1624G>C (p.Val542Leu) n.1467G>C c.1486G>C (p.Val496Leu) c.1291G>C (p.Val431Leu) c.1828G>C (p.Val610Leu) c.1729G>C (p.Val577Leu) c.1600G>C (p.Val534Leu) c.1591G>C (p.Val531Leu) c.1396G>C (p.Val466Leu) | |
| 15 | g.50242526C>T | CA392377209 | HDC | c.1723G>A (p.Val575Met) c.1624G>A (p.Val542Met) n.1467G>A c.1486G>A (p.Val496Met) c.1291G>A (p.Val431Met) c.1828G>A (p.Val610Met) c.1729G>A (p.Val577Met) c.1600G>A (p.Val534Met) c.1591G>A (p.Val531Met) c.1396G>A (p.Val466Met) | |
| 15 | g.50242527A>C | CA490314197 | HDC | c.1722T>G (p.Ser574=) c.1623T>G (p.Ser541=) n.1466T>G c.1485T>G (p.Ser495=) c.1290T>G (p.Ser430=) c.1827T>G (p.Ser609=) c.1728T>G (p.Ser576=) c.1599T>G (p.Ser533=) c.1590T>G (p.Ser530=) c.1395T>G (p.Ser465=) | |
| 15 | g.50242527A>G | CA490314198 | HDC | c.1722T>C (p.Ser574=) c.1623T>C (p.Ser541=) n.1466T>C c.1485T>C (p.Ser495=) c.1290T>C (p.Ser430=) c.1827T>C (p.Ser609=) c.1728T>C (p.Ser576=) c.1599T>C (p.Ser533=) c.1590T>C (p.Ser530=) c.1395T>C (p.Ser465=) | |
| 15 | g.50242527A>T | CA490314199 | HDC | c.1722T>A (p.Ser574=) c.1623T>A (p.Ser541=) n.1466T>A c.1485T>A (p.Ser495=) c.1290T>A (p.Ser430=) c.1827T>A (p.Ser609=) c.1728T>A (p.Ser576=) c.1599T>A (p.Ser533=) c.1590T>A (p.Ser530=) c.1395T>A (p.Ser465=) | |
| 15 | g.50242528G>A | CA7554509 | HDC | c.1721C>T (p.Ser574Phe) c.1622C>T (p.Ser541Phe) n.1465C>T c.1484C>T (p.Ser495Phe) c.1289C>T (p.Ser430Phe) c.1826C>T (p.Ser609Phe) c.1727C>T (p.Ser576Phe) c.1598C>T (p.Ser533Phe) c.1589C>T (p.Ser530Phe) c.1394C>T (p.Ser465Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50242528G>C | CA392377210 | HDC | c.1721C>G (p.Ser574Cys) c.1622C>G (p.Ser541Cys) n.1465C>G c.1484C>G (p.Ser495Cys) c.1289C>G (p.Ser430Cys) c.1826C>G (p.Ser609Cys) c.1727C>G (p.Ser576Cys) c.1598C>G (p.Ser533Cys) c.1589C>G (p.Ser530Cys) c.1394C>G (p.Ser465Cys) | |
| 15 | g.50242528G= | CA2176326630 | HDC | c.1721C= (p.Ser574=) c.1622C= (p.Ser541=) n.1465C= c.1484C= (p.Ser495=) c.1289C= (p.Ser430=) c.1826C= (p.Ser609=) c.1727C= (p.Ser576=) c.1598C= (p.Ser533=) c.1589C= (p.Ser530=) c.1394C= (p.Ser465=) | |
| 15 | g.50242528G>T | CA392377211 | HDC | c.1721C>A (p.Ser574Tyr) c.1622C>A (p.Ser541Tyr) n.1465C>A c.1484C>A (p.Ser495Tyr) c.1289C>A (p.Ser430Tyr) c.1826C>A (p.Ser609Tyr) c.1727C>A (p.Ser576Tyr) c.1598C>A (p.Ser533Tyr) c.1589C>A (p.Ser530Tyr) c.1394C>A (p.Ser465Tyr) | |
| 15 | g.50242529A= | CA2176326631 | HDC | c.1720T= (p.Ser574=) c.1621T= (p.Ser541=) n.1464T= c.1483T= (p.Ser495=) c.1288T= (p.Ser430=) c.1825T= (p.Ser609=) c.1726T= (p.Ser576=) c.1597T= (p.Ser533=) c.1588T= (p.Ser530=) c.1393T= (p.Ser465=) | |
| 15 | g.50242529A>C | CA392377213 | HDC | c.1720T>G (p.Ser574Ala) c.1621T>G (p.Ser541Ala) n.1464T>G c.1483T>G (p.Ser495Ala) c.1288T>G (p.Ser430Ala) c.1825T>G (p.Ser609Ala) c.1726T>G (p.Ser576Ala) c.1597T>G (p.Ser533Ala) c.1588T>G (p.Ser530Ala) c.1393T>G (p.Ser465Ala) | dbSNP |
| 15 | g.50242529A>G | CA392377214 | HDC | c.1720T>C (p.Ser574Pro) c.1621T>C (p.Ser541Pro) n.1464T>C c.1483T>C (p.Ser495Pro) c.1288T>C (p.Ser430Pro) c.1825T>C (p.Ser609Pro) c.1726T>C (p.Ser576Pro) c.1597T>C (p.Ser533Pro) c.1588T>C (p.Ser530Pro) c.1393T>C (p.Ser465Pro) | |
| 15 | g.50242529A>T | CA392377212 | HDC | c.1720T>A (p.Ser574Thr) c.1621T>A (p.Ser541Thr) n.1464T>A c.1483T>A (p.Ser495Thr) c.1288T>A (p.Ser430Thr) c.1825T>A (p.Ser609Thr) c.1726T>A (p.Ser576Thr) c.1597T>A (p.Ser533Thr) c.1588T>A (p.Ser530Thr) c.1393T>A (p.Ser465Thr) |