Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137776589_137776637del | CA2695211854 | EHMT1 | c.1792-29_1811del c.1678-29_1697del c.1699-29_1718del c.1832-29_1851del c.1419-29_1438del c.961-29_980del c.*1527-29_*1546del c.649-29_668del c.340-29_359del n.1814_1862del c.1783-29_1802del c.1774-29_1793del c.1801-29_1820del c.1798-29_1817del c.1780-29_1799del c.1723-29_1742del c.1657-29_1676del c.223-29_242del c.1636-29_1655del c.1771-29_1790del c.1777-29_1796del c.1693-29_1712del c.1621-29_1640del c.1555-29_1574del c.916-29_935del c.1534-29_1553del | |
9 | g.137776627A>C | CA375775509 | EHMT1 | c.1801A>C (p.Met601Leu) c.1687A>C (p.Met563Leu) c.1708A>C (p.Met570Leu) c.1841A>C (n.1841A>C) c.1428A>C c.970A>C (p.Met324Leu) c.*1536A>C (n.*1536A>C) c.658A>C (p.Met220Leu) c.349A>C (p.Met117Leu) n.1822T>G c.1792A>C (p.Met598Leu) c.1783A>C (p.Met595Leu) c.1810A>C (p.Met604Leu) c.1807A>C (p.Met603Leu) c.1789A>C (p.Met597Leu) c.1732A>C (p.Met578Leu) c.1666A>C (p.Met556Leu) c.232A>C (p.Met78Leu) c.1645A>C (p.Met549Leu) c.1780A>C (p.Met594Leu) c.1786A>C (p.Met596Leu) c.1702A>C (p.Met568Leu) c.1630A>C (p.Met544Leu) c.1564A>C (p.Met522Leu) c.925A>C (p.Met309Leu) c.1543A>C (p.Met515Leu) | |
9 | g.137776627A>G | CA375775511 | EHMT1 | c.1801A>G (p.Met601Val) c.1687A>G (p.Met563Val) c.1708A>G (p.Met570Val) c.1841A>G (n.1841A>G) c.1428A>G c.970A>G (p.Met324Val) c.*1536A>G (n.*1536A>G) c.658A>G (p.Met220Val) c.349A>G (p.Met117Val) n.1822T>C c.1792A>G (p.Met598Val) c.1783A>G (p.Met595Val) c.1810A>G (p.Met604Val) c.1807A>G (p.Met603Val) c.1789A>G (p.Met597Val) c.1732A>G (p.Met578Val) c.1666A>G (p.Met556Val) c.232A>G (p.Met78Val) c.1645A>G (p.Met549Val) c.1780A>G (p.Met594Val) c.1786A>G (p.Met596Val) c.1702A>G (p.Met568Val) c.1630A>G (p.Met544Val) c.1564A>G (p.Met522Val) c.925A>G (p.Met309Val) c.1543A>G (p.Met515Val) | |
9 | g.137776627A>T | CA375775514 | EHMT1 | c.1801A>T (p.Met601Leu) c.1687A>T (p.Met563Leu) c.1708A>T (p.Met570Leu) c.1841A>T (n.1841A>T) c.1428A>T c.970A>T (p.Met324Leu) c.*1536A>T (n.*1536A>T) c.658A>T (p.Met220Leu) c.349A>T (p.Met117Leu) n.1822T>A c.1792A>T (p.Met598Leu) c.1783A>T (p.Met595Leu) c.1810A>T (p.Met604Leu) c.1807A>T (p.Met603Leu) c.1789A>T (p.Met597Leu) c.1732A>T (p.Met578Leu) c.1666A>T (p.Met556Leu) c.232A>T (p.Met78Leu) c.1645A>T (p.Met549Leu) c.1780A>T (p.Met594Leu) c.1786A>T (p.Met596Leu) c.1702A>T (p.Met568Leu) c.1630A>T (p.Met544Leu) c.1564A>T (p.Met522Leu) c.925A>T (p.Met309Leu) c.1543A>T (p.Met515Leu) | gnomAD v4 |
9 | g.137776628T>A | CA375775516 | EHMT1 | c.1802T>A (p.Met601Lys) c.1688T>A (p.Met563Lys) c.1709T>A (p.Met570Lys) c.1842T>A (n.1842T>A) c.1429T>A c.971T>A (p.Met324Lys) c.*1537T>A (n.*1537T>A) c.659T>A (p.Met220Lys) c.350T>A (p.Met117Lys) n.1821A>T c.1793T>A (p.Met598Lys) c.1784T>A (p.Met595Lys) c.1811T>A (p.Met604Lys) c.1808T>A (p.Met603Lys) c.1790T>A (p.Met597Lys) c.1733T>A (p.Met578Lys) c.1667T>A (p.Met556Lys) c.233T>A (p.Met78Lys) c.1646T>A (p.Met549Lys) c.1781T>A (p.Met594Lys) c.1787T>A (p.Met596Lys) c.1703T>A (p.Met568Lys) c.1631T>A (p.Met544Lys) c.1565T>A (p.Met522Lys) c.926T>A (p.Met309Lys) c.1544T>A (p.Met515Lys) | |
9 | g.137776628T>C | CA375775518 | EHMT1 | c.1802T>C (p.Met601Thr) c.1688T>C (p.Met563Thr) c.1709T>C (p.Met570Thr) c.1842T>C (n.1842T>C) c.1429T>C c.971T>C (p.Met324Thr) c.*1537T>C (n.*1537T>C) c.659T>C (p.Met220Thr) c.350T>C (p.Met117Thr) n.1821A>G c.1793T>C (p.Met598Thr) c.1784T>C (p.Met595Thr) c.1811T>C (p.Met604Thr) c.1808T>C (p.Met603Thr) c.1790T>C (p.Met597Thr) c.1733T>C (p.Met578Thr) c.1667T>C (p.Met556Thr) c.233T>C (p.Met78Thr) c.1646T>C (p.Met549Thr) c.1781T>C (p.Met594Thr) c.1787T>C (p.Met596Thr) c.1703T>C (p.Met568Thr) c.1631T>C (p.Met544Thr) c.1565T>C (p.Met522Thr) c.926T>C (p.Met309Thr) c.1544T>C (p.Met515Thr) | |
9 | g.137776628T>G | CA375775520 | EHMT1 | c.1802T>G (p.Met601Arg) c.1688T>G (p.Met563Arg) c.1709T>G (p.Met570Arg) c.1842T>G (n.1842T>G) c.1429T>G c.971T>G (p.Met324Arg) c.*1537T>G (n.*1537T>G) c.659T>G (p.Met220Arg) c.350T>G (p.Met117Arg) n.1821A>C c.1793T>G (p.Met598Arg) c.1784T>G (p.Met595Arg) c.1811T>G (p.Met604Arg) c.1808T>G (p.Met603Arg) c.1790T>G (p.Met597Arg) c.1733T>G (p.Met578Arg) c.1667T>G (p.Met556Arg) c.233T>G (p.Met78Arg) c.1646T>G (p.Met549Arg) c.1781T>G (p.Met594Arg) c.1787T>G (p.Met596Arg) c.1703T>G (p.Met568Arg) c.1631T>G (p.Met544Arg) c.1565T>G (p.Met522Arg) c.926T>G (p.Met309Arg) c.1544T>G (p.Met515Arg) | |
9 | g.137776629G>A | CA201803996 | EHMT1 | c.1803G>A (p.Met601Ile) c.1689G>A (p.Met563Ile) c.1710G>A (p.Met570Ile) c.1843G>A (n.1843G>A) c.1430G>A c.972G>A (p.Met324Ile) c.*1538G>A (n.*1538G>A) c.660G>A (p.Met220Ile) c.351G>A (p.Met117Ile) n.1820C>T c.1794G>A (p.Met598Ile) c.1785G>A (p.Met595Ile) c.1812G>A (p.Met604Ile) c.1809G>A (p.Met603Ile) c.1791G>A (p.Met597Ile) c.1734G>A (p.Met578Ile) c.1668G>A (p.Met556Ile) c.234G>A (p.Met78Ile) c.1647G>A (p.Met549Ile) c.1782G>A (p.Met594Ile) c.1788G>A (p.Met596Ile) c.1704G>A (p.Met568Ile) c.1632G>A (p.Met544Ile) c.1566G>A (p.Met522Ile) c.927G>A (p.Met309Ile) c.1545G>A (p.Met515Ile) | dbSNP gnomAD v4 |
9 | g.137776629G>C | CA375775529 | EHMT1 | c.1803G>C (p.Met601Ile) c.1689G>C (p.Met563Ile) c.1710G>C (p.Met570Ile) c.1843G>C (n.1843G>C) c.1430G>C c.972G>C (p.Met324Ile) c.*1538G>C (n.*1538G>C) c.660G>C (p.Met220Ile) c.351G>C (p.Met117Ile) n.1820C>G c.1794G>C (p.Met598Ile) c.1785G>C (p.Met595Ile) c.1812G>C (p.Met604Ile) c.1809G>C (p.Met603Ile) c.1791G>C (p.Met597Ile) c.1734G>C (p.Met578Ile) c.1668G>C (p.Met556Ile) c.234G>C (p.Met78Ile) c.1647G>C (p.Met549Ile) c.1782G>C (p.Met594Ile) c.1788G>C (p.Met596Ile) c.1704G>C (p.Met568Ile) c.1632G>C (p.Met544Ile) c.1566G>C (p.Met522Ile) c.927G>C (p.Met309Ile) c.1545G>C (p.Met515Ile) | |
9 | g.137776629G= | CA1884666463 | EHMT1 | c.1803G= (p.Met601=) c.1689G= (p.Met563=) c.1710G= (p.Met570=) c.1843G= (n.1843G=) c.1430G= c.972G= (p.Met324=) c.*1538G= (n.*1538G=) c.660G= (p.Met220=) c.351G= (p.Met117=) n.1820C= c.1794G= (p.Met598=) c.1785G= (p.Met595=) c.1812G= (p.Met604=) c.1809G= (p.Met603=) c.1791G= (p.Met597=) c.1734G= (p.Met578=) c.1668G= (p.Met556=) c.234G= (p.Met78=) c.1647G= (p.Met549=) c.1782G= (p.Met594=) c.1788G= (p.Met596=) c.1704G= (p.Met568=) c.1632G= (p.Met544=) c.1566G= (p.Met522=) c.927G= (p.Met309=) c.1545G= (p.Met515=) | |
9 | g.137776629G>T | CA375775535 | EHMT1 | c.1803G>T (p.Met601Ile) c.1689G>T (p.Met563Ile) c.1710G>T (p.Met570Ile) c.1843G>T (n.1843G>T) c.1430G>T c.972G>T (p.Met324Ile) c.*1538G>T (n.*1538G>T) c.660G>T (p.Met220Ile) c.351G>T (p.Met117Ile) n.1820C>A c.1794G>T (p.Met598Ile) c.1785G>T (p.Met595Ile) c.1812G>T (p.Met604Ile) c.1809G>T (p.Met603Ile) c.1791G>T (p.Met597Ile) c.1734G>T (p.Met578Ile) c.1668G>T (p.Met556Ile) c.234G>T (p.Met78Ile) c.1647G>T (p.Met549Ile) c.1782G>T (p.Met594Ile) c.1788G>T (p.Met596Ile) c.1704G>T (p.Met568Ile) c.1632G>T (p.Met544Ile) c.1566G>T (p.Met522Ile) c.927G>T (p.Met309Ile) c.1545G>T (p.Met515Ile) | |
9 | g.137776630G>A | CA375775538 | EHMT1 | c.1804G>A (p.Glu602Lys) c.1690G>A (p.Glu564Lys) c.1711G>A (p.Glu571Lys) c.1844G>A (n.1844G>A) c.1431G>A c.973G>A (p.Glu325Lys) c.*1539G>A (n.*1539G>A) c.661G>A (p.Glu221Lys) c.352G>A (p.Glu118Lys) n.1819C>T c.1795G>A (p.Glu599Lys) c.1786G>A (p.Glu596Lys) c.1813G>A (p.Glu605Lys) c.1810G>A (p.Glu604Lys) c.1792G>A (p.Glu598Lys) c.1735G>A (p.Glu579Lys) c.1669G>A (p.Glu557Lys) c.235G>A (p.Glu79Lys) c.1648G>A (p.Glu550Lys) c.1783G>A (p.Glu595Lys) c.1789G>A (p.Glu597Lys) c.1705G>A (p.Glu569Lys) c.1633G>A (p.Glu545Lys) c.1567G>A (p.Glu523Lys) c.928G>A (p.Glu310Lys) c.1546G>A (p.Glu516Lys) | |
9 | g.137776630G>C | CA375775540 | EHMT1 | c.1804G>C (p.Glu602Gln) c.1690G>C (p.Glu564Gln) c.1711G>C (p.Glu571Gln) c.1844G>C (n.1844G>C) c.1431G>C c.973G>C (p.Glu325Gln) c.*1539G>C (n.*1539G>C) c.661G>C (p.Glu221Gln) c.352G>C (p.Glu118Gln) n.1819C>G c.1795G>C (p.Glu599Gln) c.1786G>C (p.Glu596Gln) c.1813G>C (p.Glu605Gln) c.1810G>C (p.Glu604Gln) c.1792G>C (p.Glu598Gln) c.1735G>C (p.Glu579Gln) c.1669G>C (p.Glu557Gln) c.235G>C (p.Glu79Gln) c.1648G>C (p.Glu550Gln) c.1783G>C (p.Glu595Gln) c.1789G>C (p.Glu597Gln) c.1705G>C (p.Glu569Gln) c.1633G>C (p.Glu545Gln) c.1567G>C (p.Glu523Gln) c.928G>C (p.Glu310Gln) c.1546G>C (p.Glu516Gln) | |
9 | g.137776630G>T | CA375775542 | EHMT1 | c.1804G>T (p.Glu602Ter) c.1690G>T (p.Glu564Ter) c.1711G>T (p.Glu571Ter) c.1844G>T (n.1844G>T) c.1431G>T c.973G>T (p.Glu325Ter) c.*1539G>T (n.*1539G>T) c.661G>T (p.Glu221Ter) c.352G>T (p.Glu118Ter) n.1819C>A c.1795G>T (p.Glu599Ter) c.1786G>T (p.Glu596Ter) c.1813G>T (p.Glu605Ter) c.1810G>T (p.Glu604Ter) c.1792G>T (p.Glu598Ter) c.1735G>T (p.Glu579Ter) c.1669G>T (p.Glu557Ter) c.235G>T (p.Glu79Ter) c.1648G>T (p.Glu550Ter) c.1783G>T (p.Glu595Ter) c.1789G>T (p.Glu597Ter) c.1705G>T (p.Glu569Ter) c.1633G>T (p.Glu545Ter) c.1567G>T (p.Glu523Ter) c.928G>T (p.Glu310Ter) c.1546G>T (p.Glu516Ter) | |
9 | g.137776631A>C | CA375775543 | EHMT1 | c.1805A>C (p.Glu602Ala) c.1691A>C (p.Glu564Ala) c.1712A>C (p.Glu571Ala) c.1845A>C (n.1845A>C) c.1432A>C c.974A>C (p.Glu325Ala) c.*1540A>C (n.*1540A>C) c.662A>C (p.Glu221Ala) c.353A>C (p.Glu118Ala) n.1818T>G c.1796A>C (p.Glu599Ala) c.1787A>C (p.Glu596Ala) c.1814A>C (p.Glu605Ala) c.1811A>C (p.Glu604Ala) c.1793A>C (p.Glu598Ala) c.1736A>C (p.Glu579Ala) c.1670A>C (p.Glu557Ala) c.236A>C (p.Glu79Ala) c.1649A>C (p.Glu550Ala) c.1784A>C (p.Glu595Ala) c.1790A>C (p.Glu597Ala) c.1706A>C (p.Glu569Ala) c.1634A>C (p.Glu545Ala) c.1568A>C (p.Glu523Ala) c.929A>C (p.Glu310Ala) c.1547A>C (p.Glu516Ala) | |
9 | g.137776631A>G | CA375775549 | EHMT1 | c.1805A>G (p.Glu602Gly) c.1691A>G (p.Glu564Gly) c.1712A>G (p.Glu571Gly) c.1845A>G (n.1845A>G) c.1432A>G c.974A>G (p.Glu325Gly) c.*1540A>G (n.*1540A>G) c.662A>G (p.Glu221Gly) c.353A>G (p.Glu118Gly) n.1818T>C c.1796A>G (p.Glu599Gly) c.1787A>G (p.Glu596Gly) c.1814A>G (p.Glu605Gly) c.1811A>G (p.Glu604Gly) c.1793A>G (p.Glu598Gly) c.1736A>G (p.Glu579Gly) c.1670A>G (p.Glu557Gly) c.236A>G (p.Glu79Gly) c.1649A>G (p.Glu550Gly) c.1784A>G (p.Glu595Gly) c.1790A>G (p.Glu597Gly) c.1706A>G (p.Glu569Gly) c.1634A>G (p.Glu545Gly) c.1568A>G (p.Glu523Gly) c.929A>G (p.Glu310Gly) c.1547A>G (p.Glu516Gly) | |
9 | g.137776631A>T | CA375775546 | EHMT1 | c.1805A>T (p.Glu602Val) c.1691A>T (p.Glu564Val) c.1712A>T (p.Glu571Val) c.1845A>T (n.1845A>T) c.1432A>T c.974A>T (p.Glu325Val) c.*1540A>T (n.*1540A>T) c.662A>T (p.Glu221Val) c.353A>T (p.Glu118Val) n.1818T>A c.1796A>T (p.Glu599Val) c.1787A>T (p.Glu596Val) c.1814A>T (p.Glu605Val) c.1811A>T (p.Glu604Val) c.1793A>T (p.Glu598Val) c.1736A>T (p.Glu579Val) c.1670A>T (p.Glu557Val) c.236A>T (p.Glu79Val) c.1649A>T (p.Glu550Val) c.1784A>T (p.Glu595Val) c.1790A>T (p.Glu597Val) c.1706A>T (p.Glu569Val) c.1634A>T (p.Glu545Val) c.1568A>T (p.Glu523Val) c.929A>T (p.Glu310Val) c.1547A>T (p.Glu516Val) | |
9 | g.137776632G>A | CA5374740 | EHMT1 | c.1806G>A (p.Glu602=) c.1692G>A (p.Glu564=) c.1713G>A (p.Glu571=) c.1846G>A (n.1846G>A) c.1433G>A c.975G>A (p.Glu325=) c.*1541G>A (n.*1541G>A) c.663G>A (p.Glu221=) c.354G>A (p.Glu118=) n.1817C>T c.1797G>A (p.Glu599=) c.1788G>A (p.Glu596=) c.1815G>A (p.Glu605=) c.1812G>A (p.Glu604=) c.1794G>A (p.Glu598=) c.1737G>A (p.Glu579=) c.1671G>A (p.Glu557=) c.237G>A (p.Glu79=) c.1650G>A (p.Glu550=) c.1785G>A (p.Glu595=) c.1791G>A (p.Glu597=) c.1707G>A (p.Glu569=) c.1635G>A (p.Glu545=) c.1569G>A (p.Glu523=) c.930G>A (p.Glu310=) c.1548G>A (p.Glu516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776632G>C | CA375775557 | EHMT1 | c.1806G>C (p.Glu602Asp) c.1692G>C (p.Glu564Asp) c.1713G>C (p.Glu571Asp) c.1846G>C (n.1846G>C) c.1433G>C c.975G>C (p.Glu325Asp) c.*1541G>C (n.*1541G>C) c.663G>C (p.Glu221Asp) c.354G>C (p.Glu118Asp) n.1817C>G c.1797G>C (p.Glu599Asp) c.1788G>C (p.Glu596Asp) c.1815G>C (p.Glu605Asp) c.1812G>C (p.Glu604Asp) c.1794G>C (p.Glu598Asp) c.1737G>C (p.Glu579Asp) c.1671G>C (p.Glu557Asp) c.237G>C (p.Glu79Asp) c.1650G>C (p.Glu550Asp) c.1785G>C (p.Glu595Asp) c.1791G>C (p.Glu597Asp) c.1707G>C (p.Glu569Asp) c.1635G>C (p.Glu545Asp) c.1569G>C (p.Glu523Asp) c.930G>C (p.Glu310Asp) c.1548G>C (p.Glu516Asp) | dbSNP |
9 | g.137776632G= | CA1884666464 | EHMT1 | c.1806G= (p.Glu602=) c.1692G= (p.Glu564=) c.1713G= (p.Glu571=) c.1846G= (n.1846G=) c.1433G= c.975G= (p.Glu325=) c.*1541G= (n.*1541G=) c.663G= (p.Glu221=) c.354G= (p.Glu118=) n.1817C= c.1797G= (p.Glu599=) c.1788G= (p.Glu596=) c.1815G= (p.Glu605=) c.1812G= (p.Glu604=) c.1794G= (p.Glu598=) c.1737G= (p.Glu579=) c.1671G= (p.Glu557=) c.237G= (p.Glu79=) c.1650G= (p.Glu550=) c.1785G= (p.Glu595=) c.1791G= (p.Glu597=) c.1707G= (p.Glu569=) c.1635G= (p.Glu545=) c.1569G= (p.Glu523=) c.930G= (p.Glu310=) c.1548G= (p.Glu516=) | |
9 | g.137776632G>T | CA375775564 | EHMT1 | c.1806G>T (p.Glu602Asp) c.1692G>T (p.Glu564Asp) c.1713G>T (p.Glu571Asp) c.1846G>T (n.1846G>T) c.1433G>T c.975G>T (p.Glu325Asp) c.*1541G>T (n.*1541G>T) c.663G>T (p.Glu221Asp) c.354G>T (p.Glu118Asp) n.1817C>A c.1797G>T (p.Glu599Asp) c.1788G>T (p.Glu596Asp) c.1815G>T (p.Glu605Asp) c.1812G>T (p.Glu604Asp) c.1794G>T (p.Glu598Asp) c.1737G>T (p.Glu579Asp) c.1671G>T (p.Glu557Asp) c.237G>T (p.Glu79Asp) c.1650G>T (p.Glu550Asp) c.1785G>T (p.Glu595Asp) c.1791G>T (p.Glu597Asp) c.1707G>T (p.Glu569Asp) c.1635G>T (p.Glu545Asp) c.1569G>T (p.Glu523Asp) c.930G>T (p.Glu310Asp) c.1548G>T (p.Glu516Asp) | gnomAD v4 |
9 | g.137776633T>A | CA375775567 | EHMT1 | c.1807T>A (p.Cys603Ser) c.1693T>A (p.Cys565Ser) c.1714T>A (p.Cys572Ser) c.1847T>A (n.1847T>A) c.1434T>A c.976T>A (p.Cys326Ser) c.*1542T>A (n.*1542T>A) c.664T>A (p.Cys222Ser) c.355T>A (p.Cys119Ser) n.1816A>T c.1798T>A (p.Cys600Ser) c.1789T>A (p.Cys597Ser) c.1816T>A (p.Cys606Ser) c.1813T>A (p.Cys605Ser) c.1795T>A (p.Cys599Ser) c.1738T>A (p.Cys580Ser) c.1672T>A (p.Cys558Ser) c.238T>A (p.Cys80Ser) c.1651T>A (p.Cys551Ser) c.1786T>A (p.Cys596Ser) c.1792T>A (p.Cys598Ser) c.1708T>A (p.Cys570Ser) c.1636T>A (p.Cys546Ser) c.1570T>A (p.Cys524Ser) c.931T>A (p.Cys311Ser) c.1549T>A (p.Cys517Ser) | |
9 | g.137776633T>C | CA375775572 | EHMT1 | c.1807T>C (p.Cys603Arg) c.1693T>C (p.Cys565Arg) c.1714T>C (p.Cys572Arg) c.1847T>C (n.1847T>C) c.1434T>C c.976T>C (p.Cys326Arg) c.*1542T>C (n.*1542T>C) c.664T>C (p.Cys222Arg) c.355T>C (p.Cys119Arg) n.1816A>G c.1798T>C (p.Cys600Arg) c.1789T>C (p.Cys597Arg) c.1816T>C (p.Cys606Arg) c.1813T>C (p.Cys605Arg) c.1795T>C (p.Cys599Arg) c.1738T>C (p.Cys580Arg) c.1672T>C (p.Cys558Arg) c.238T>C (p.Cys80Arg) c.1651T>C (p.Cys551Arg) c.1786T>C (p.Cys596Arg) c.1792T>C (p.Cys598Arg) c.1708T>C (p.Cys570Arg) c.1636T>C (p.Cys546Arg) c.1570T>C (p.Cys524Arg) c.931T>C (p.Cys311Arg) c.1549T>C (p.Cys517Arg) | |
9 | g.137776633T>G | CA375775575 | EHMT1 | c.1807T>G (p.Cys603Gly) c.1693T>G (p.Cys565Gly) c.1714T>G (p.Cys572Gly) c.1847T>G (n.1847T>G) c.1434T>G c.976T>G (p.Cys326Gly) c.*1542T>G (n.*1542T>G) c.664T>G (p.Cys222Gly) c.355T>G (p.Cys119Gly) n.1816A>C c.1798T>G (p.Cys600Gly) c.1789T>G (p.Cys597Gly) c.1816T>G (p.Cys606Gly) c.1813T>G (p.Cys605Gly) c.1795T>G (p.Cys599Gly) c.1738T>G (p.Cys580Gly) c.1672T>G (p.Cys558Gly) c.238T>G (p.Cys80Gly) c.1651T>G (p.Cys551Gly) c.1786T>G (p.Cys596Gly) c.1792T>G (p.Cys598Gly) c.1708T>G (p.Cys570Gly) c.1636T>G (p.Cys546Gly) c.1570T>G (p.Cys524Gly) c.931T>G (p.Cys311Gly) c.1549T>G (p.Cys517Gly) | |
9 | g.137776634G>A | CA375775576 | EHMT1 | c.1808G>A (p.Cys603Tyr) c.1694G>A (p.Cys565Tyr) c.1715G>A (p.Cys572Tyr) c.1848G>A (n.1848G>A) c.1435G>A c.977G>A (p.Cys326Tyr) c.*1543G>A (n.*1543G>A) c.665G>A (p.Cys222Tyr) c.356G>A (p.Cys119Tyr) n.1815C>T c.1799G>A (p.Cys600Tyr) c.1790G>A (p.Cys597Tyr) c.1817G>A (p.Cys606Tyr) c.1814G>A (p.Cys605Tyr) c.1796G>A (p.Cys599Tyr) c.1739G>A (p.Cys580Tyr) c.1673G>A (p.Cys558Tyr) c.239G>A (p.Cys80Tyr) c.1652G>A (p.Cys551Tyr) c.1787G>A (p.Cys596Tyr) c.1793G>A (p.Cys598Tyr) c.1709G>A (p.Cys570Tyr) c.1637G>A (p.Cys546Tyr) c.1571G>A (p.Cys524Tyr) c.932G>A (p.Cys311Tyr) c.1550G>A (p.Cys517Tyr) | |
9 | g.137776634G>C | CA375775579 | EHMT1 | c.1808G>C (p.Cys603Ser) c.1694G>C (p.Cys565Ser) c.1715G>C (p.Cys572Ser) c.1848G>C (n.1848G>C) c.1435G>C c.977G>C (p.Cys326Ser) c.*1543G>C (n.*1543G>C) c.665G>C (p.Cys222Ser) c.356G>C (p.Cys119Ser) n.1815C>G c.1799G>C (p.Cys600Ser) c.1790G>C (p.Cys597Ser) c.1817G>C (p.Cys606Ser) c.1814G>C (p.Cys605Ser) c.1796G>C (p.Cys599Ser) c.1739G>C (p.Cys580Ser) c.1673G>C (p.Cys558Ser) c.239G>C (p.Cys80Ser) c.1652G>C (p.Cys551Ser) c.1787G>C (p.Cys596Ser) c.1793G>C (p.Cys598Ser) c.1709G>C (p.Cys570Ser) c.1637G>C (p.Cys546Ser) c.1571G>C (p.Cys524Ser) c.932G>C (p.Cys311Ser) c.1550G>C (p.Cys517Ser) | |
9 | g.137776634G>T | CA375775583 | EHMT1 | c.1808G>T (p.Cys603Phe) c.1694G>T (p.Cys565Phe) c.1715G>T (p.Cys572Phe) c.1848G>T (n.1848G>T) c.1435G>T c.977G>T (p.Cys326Phe) c.*1543G>T (n.*1543G>T) c.665G>T (p.Cys222Phe) c.356G>T (p.Cys119Phe) n.1815C>A c.1799G>T (p.Cys600Phe) c.1790G>T (p.Cys597Phe) c.1817G>T (p.Cys606Phe) c.1814G>T (p.Cys605Phe) c.1796G>T (p.Cys599Phe) c.1739G>T (p.Cys580Phe) c.1673G>T (p.Cys558Phe) c.239G>T (p.Cys80Phe) c.1652G>T (p.Cys551Phe) c.1787G>T (p.Cys596Phe) c.1793G>T (p.Cys598Phe) c.1709G>T (p.Cys570Phe) c.1637G>T (p.Cys546Phe) c.1571G>T (p.Cys524Phe) c.932G>T (p.Cys311Phe) c.1550G>T (p.Cys517Phe) | |
9 | g.137776635T>A | CA375775584 | EHMT1 | c.1809T>A (p.Cys603Ter) c.1695T>A (p.Cys565Ter) c.1716T>A (p.Cys572Ter) c.1849T>A (n.1849T>A) c.1436T>A c.978T>A (p.Cys326Ter) c.*1544T>A (n.*1544T>A) c.666T>A (p.Cys222Ter) c.357T>A (p.Cys119Ter) n.1814A>T c.1800T>A (p.Cys600Ter) c.1791T>A (p.Cys597Ter) c.1818T>A (p.Cys606Ter) c.1815T>A (p.Cys605Ter) c.1797T>A (p.Cys599Ter) c.1740T>A (p.Cys580Ter) c.1674T>A (p.Cys558Ter) c.240T>A (p.Cys80Ter) c.1653T>A (p.Cys551Ter) c.1788T>A (p.Cys596Ter) c.1794T>A (p.Cys598Ter) c.1710T>A (p.Cys570Ter) c.1638T>A (p.Cys546Ter) c.1572T>A (p.Cys524Ter) c.933T>A (p.Cys311Ter) c.1551T>A (p.Cys517Ter) | |
9 | g.137776635T>C | CA467874042 | EHMT1 | c.1809T>C (p.Cys603=) c.1695T>C (p.Cys565=) c.1716T>C (p.Cys572=) c.1849T>C (n.1849T>C) c.1436T>C c.978T>C (p.Cys326=) c.*1544T>C (n.*1544T>C) c.666T>C (p.Cys222=) c.357T>C (p.Cys119=) n.1814A>G c.1800T>C (p.Cys600=) c.1791T>C (p.Cys597=) c.1818T>C (p.Cys606=) c.1815T>C (p.Cys605=) c.1797T>C (p.Cys599=) c.1740T>C (p.Cys580=) c.1674T>C (p.Cys558=) c.240T>C (p.Cys80=) c.1653T>C (p.Cys551=) c.1788T>C (p.Cys596=) c.1794T>C (p.Cys598=) c.1710T>C (p.Cys570=) c.1638T>C (p.Cys546=) c.1572T>C (p.Cys524=) c.933T>C (p.Cys311=) c.1551T>C (p.Cys517=) | |
9 | g.137776635T>G | CA375775585 | EHMT1 | c.1809T>G (p.Cys603Trp) c.1695T>G (p.Cys565Trp) c.1716T>G (p.Cys572Trp) c.1849T>G (n.1849T>G) c.1436T>G c.978T>G (p.Cys326Trp) c.*1544T>G (n.*1544T>G) c.666T>G (p.Cys222Trp) c.357T>G (p.Cys119Trp) n.1814A>C c.1800T>G (p.Cys600Trp) c.1791T>G (p.Cys597Trp) c.1818T>G (p.Cys606Trp) c.1815T>G (p.Cys605Trp) c.1797T>G (p.Cys599Trp) c.1740T>G (p.Cys580Trp) c.1674T>G (p.Cys558Trp) c.240T>G (p.Cys80Trp) c.1653T>G (p.Cys551Trp) c.1788T>G (p.Cys596Trp) c.1794T>G (p.Cys598Trp) c.1710T>G (p.Cys570Trp) c.1638T>G (p.Cys546Trp) c.1572T>G (p.Cys524Trp) c.933T>G (p.Cys311Trp) c.1551T>G (p.Cys517Trp) | |
9 | g.137776636C>A | CA375775586 | EHMT1 | c.1810C>A (p.Gln604Lys) c.1696C>A (p.Gln566Lys) c.1717C>A (p.Gln573Lys) c.1850C>A (n.1850C>A) c.1437C>A c.979C>A (p.Gln327Lys) c.*1545C>A (n.*1545C>A) c.667C>A (p.Gln223Lys) c.358C>A (p.Gln120Lys) n.1813G>T c.1801C>A (p.Gln601Lys) c.1792C>A (p.Gln598Lys) c.1819C>A (p.Gln607Lys) c.1816C>A (p.Gln606Lys) c.1798C>A (p.Gln600Lys) c.1741C>A (p.Gln581Lys) c.1675C>A (p.Gln559Lys) c.241C>A (p.Gln81Lys) c.1654C>A (p.Gln552Lys) c.1789C>A (p.Gln597Lys) c.1795C>A (p.Gln599Lys) c.1711C>A (p.Gln571Lys) c.1639C>A (p.Gln547Lys) c.1573C>A (p.Gln525Lys) c.934C>A (p.Gln312Lys) c.1552C>A (p.Gln518Lys) | gnomAD v4 |
9 | g.137776636C= | CA1884666465 | EHMT1 | c.1810C= (p.Gln604=) c.1696C= (p.Gln566=) c.1717C= (p.Gln573=) c.1850C= (n.1850C=) c.1437C= c.979C= (p.Gln327=) c.*1545C= (n.*1545C=) c.667C= (p.Gln223=) c.358C= (p.Gln120=) n.1813G= c.1801C= (p.Gln601=) c.1792C= (p.Gln598=) c.1819C= (p.Gln607=) c.1816C= (p.Gln606=) c.1798C= (p.Gln600=) c.1741C= (p.Gln581=) c.1675C= (p.Gln559=) c.241C= (p.Gln81=) c.1654C= (p.Gln552=) c.1789C= (p.Gln597=) c.1795C= (p.Gln599=) c.1711C= (p.Gln571=) c.1639C= (p.Gln547=) c.1573C= (p.Gln525=) c.934C= (p.Gln312=) c.1552C= (p.Gln518=) | |
9 | g.137776636C>G | CA375775587 | EHMT1 | c.1810C>G (p.Gln604Glu) c.1696C>G (p.Gln566Glu) c.1717C>G (p.Gln573Glu) c.1850C>G (n.1850C>G) c.1437C>G c.979C>G (p.Gln327Glu) c.*1545C>G (n.*1545C>G) c.667C>G (p.Gln223Glu) c.358C>G (p.Gln120Glu) n.1813G>C c.1801C>G (p.Gln601Glu) c.1792C>G (p.Gln598Glu) c.1819C>G (p.Gln607Glu) c.1816C>G (p.Gln606Glu) c.1798C>G (p.Gln600Glu) c.1741C>G (p.Gln581Glu) c.1675C>G (p.Gln559Glu) c.241C>G (p.Gln81Glu) c.1654C>G (p.Gln552Glu) c.1789C>G (p.Gln597Glu) c.1795C>G (p.Gln599Glu) c.1711C>G (p.Gln571Glu) c.1639C>G (p.Gln547Glu) c.1573C>G (p.Gln525Glu) c.934C>G (p.Gln312Glu) c.1552C>G (p.Gln518Glu) | |
9 | g.137776636C>T | CA345050 | EHMT1 | c.1810C>T (p.Gln604Ter) c.1696C>T (p.Gln566Ter) c.1717C>T (p.Gln573Ter) c.1850C>T (n.1850C>T) c.1437C>T c.979C>T (p.Gln327Ter) c.*1545C>T (n.*1545C>T) c.667C>T (p.Gln223Ter) c.358C>T (p.Gln120Ter) n.1813G>A c.1801C>T (p.Gln601Ter) c.1792C>T (p.Gln598Ter) c.1819C>T (p.Gln607Ter) c.1816C>T (p.Gln606Ter) c.1798C>T (p.Gln600Ter) c.1741C>T (p.Gln581Ter) c.1675C>T (p.Gln559Ter) c.241C>T (p.Gln81Ter) c.1654C>T (p.Gln552Ter) c.1789C>T (p.Gln597Ter) c.1795C>T (p.Gln599Ter) c.1711C>T (p.Gln571Ter) c.1639C>T (p.Gln547Ter) c.1573C>T (p.Gln525Ter) c.934C>T (p.Gln312Ter) c.1552C>T (p.Gln518Ter) | ClinVar dbSNP |
9 | g.137776637A= | CA1884666466 | EHMT1 | c.1811A= (p.Gln604=) c.1697A= (p.Gln566=) c.1718A= (p.Gln573=) c.1851A= (n.1851A=) c.1438A= c.980A= (p.Gln327=) c.*1546A= (n.*1546A=) c.668A= (p.Gln223=) c.359A= (p.Gln120=) n.1812T= c.1802A= (p.Gln601=) c.1793A= (p.Gln598=) c.1820A= (p.Gln607=) c.1817A= (p.Gln606=) c.1799A= (p.Gln600=) c.1742A= (p.Gln581=) c.1676A= (p.Gln559=) c.242A= (p.Gln81=) c.1655A= (p.Gln552=) c.1790A= (p.Gln597=) c.1796A= (p.Gln599=) c.1712A= (p.Gln571=) c.1640A= (p.Gln547=) c.1574A= (p.Gln525=) c.935A= (p.Gln312=) c.1553A= (p.Gln518=) | |
9 | g.137776637A>C | CA375775591 | EHMT1 | c.1811A>C (p.Gln604Pro) c.1697A>C (p.Gln566Pro) c.1718A>C (p.Gln573Pro) c.1851A>C (n.1851A>C) c.1438A>C c.980A>C (p.Gln327Pro) c.*1546A>C (n.*1546A>C) c.668A>C (p.Gln223Pro) c.359A>C (p.Gln120Pro) n.1812T>G c.1802A>C (p.Gln601Pro) c.1793A>C (p.Gln598Pro) c.1820A>C (p.Gln607Pro) c.1817A>C (p.Gln606Pro) c.1799A>C (p.Gln600Pro) c.1742A>C (p.Gln581Pro) c.1676A>C (p.Gln559Pro) c.242A>C (p.Gln81Pro) c.1655A>C (p.Gln552Pro) c.1790A>C (p.Gln597Pro) c.1796A>C (p.Gln599Pro) c.1712A>C (p.Gln571Pro) c.1640A>C (p.Gln547Pro) c.1574A>C (p.Gln525Pro) c.935A>C (p.Gln312Pro) c.1553A>C (p.Gln518Pro) | |
9 | g.137776637A>G | CA375775593 | EHMT1 | c.1811A>G (p.Gln604Arg) c.1697A>G (p.Gln566Arg) c.1718A>G (p.Gln573Arg) c.1851A>G (n.1851A>G) c.1438A>G c.980A>G (p.Gln327Arg) c.*1546A>G (n.*1546A>G) c.668A>G (p.Gln223Arg) c.359A>G (p.Gln120Arg) n.1812T>C c.1802A>G (p.Gln601Arg) c.1793A>G (p.Gln598Arg) c.1820A>G (p.Gln607Arg) c.1817A>G (p.Gln606Arg) c.1799A>G (p.Gln600Arg) c.1742A>G (p.Gln581Arg) c.1676A>G (p.Gln559Arg) c.242A>G (p.Gln81Arg) c.1655A>G (p.Gln552Arg) c.1790A>G (p.Gln597Arg) c.1796A>G (p.Gln599Arg) c.1712A>G (p.Gln571Arg) c.1640A>G (p.Gln547Arg) c.1574A>G (p.Gln525Arg) c.935A>G (p.Gln312Arg) c.1553A>G (p.Gln518Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.137776637A>T | CA375775597 | EHMT1 | c.1811A>T (p.Gln604Leu) c.1697A>T (p.Gln566Leu) c.1718A>T (p.Gln573Leu) c.1851A>T (n.1851A>T) c.1438A>T c.980A>T (p.Gln327Leu) c.*1546A>T (n.*1546A>T) c.668A>T (p.Gln223Leu) c.359A>T (p.Gln120Leu) n.1812T>A c.1802A>T (p.Gln601Leu) c.1793A>T (p.Gln598Leu) c.1820A>T (p.Gln607Leu) c.1817A>T (p.Gln606Leu) c.1799A>T (p.Gln600Leu) c.1742A>T (p.Gln581Leu) c.1676A>T (p.Gln559Leu) c.242A>T (p.Gln81Leu) c.1655A>T (p.Gln552Leu) c.1790A>T (p.Gln597Leu) c.1796A>T (p.Gln599Leu) c.1712A>T (p.Gln571Leu) c.1640A>T (p.Gln547Leu) c.1574A>T (p.Gln525Leu) c.935A>T (p.Gln312Leu) c.1553A>T (p.Gln518Leu) | |
9 | g.137776638G>A | CA467874043 | EHMT1 | c.1812G>A (p.Gln604=) c.1698G>A (p.Gln566=) c.1719G>A (p.Gln573=) c.1852G>A (n.1852G>A) c.1439G>A c.981G>A (p.Gln327=) c.*1547G>A (n.*1547G>A) c.669G>A (p.Gln223=) c.360G>A (p.Gln120=) n.1811C>T c.1803G>A (p.Gln601=) c.1794G>A (p.Gln598=) c.1821G>A (p.Gln607=) c.1818G>A (p.Gln606=) c.1800G>A (p.Gln600=) c.1743G>A (p.Gln581=) c.1677G>A (p.Gln559=) c.243G>A (p.Gln81=) c.1656G>A (p.Gln552=) c.1791G>A (p.Gln597=) c.1797G>A (p.Gln599=) c.1713G>A (p.Gln571=) c.1641G>A (p.Gln547=) c.1575G>A (p.Gln525=) c.936G>A (p.Gln312=) c.1554G>A (p.Gln518=) | dbSNP |
9 | g.137776638G>C | CA375775602 | EHMT1 | c.1812G>C (p.Gln604His) c.1698G>C (p.Gln566His) c.1719G>C (p.Gln573His) c.1852G>C (n.1852G>C) c.1439G>C c.981G>C (p.Gln327His) c.*1547G>C (n.*1547G>C) c.669G>C (p.Gln223His) c.360G>C (p.Gln120His) n.1811C>G c.1803G>C (p.Gln601His) c.1794G>C (p.Gln598His) c.1821G>C (p.Gln607His) c.1818G>C (p.Gln606His) c.1800G>C (p.Gln600His) c.1743G>C (p.Gln581His) c.1677G>C (p.Gln559His) c.243G>C (p.Gln81His) c.1656G>C (p.Gln552His) c.1791G>C (p.Gln597His) c.1797G>C (p.Gln599His) c.1713G>C (p.Gln571His) c.1641G>C (p.Gln547His) c.1575G>C (p.Gln525His) c.936G>C (p.Gln312His) c.1554G>C (p.Gln518His) | |
9 | g.137776638G= | CA1884666467 | EHMT1 | c.1812G= (p.Gln604=) c.1698G= (p.Gln566=) c.1719G= (p.Gln573=) c.1852G= (n.1852G=) c.1439G= c.981G= (p.Gln327=) c.*1547G= (n.*1547G=) c.669G= (p.Gln223=) c.360G= (p.Gln120=) n.1811C= c.1803G= (p.Gln601=) c.1794G= (p.Gln598=) c.1821G= (p.Gln607=) c.1818G= (p.Gln606=) c.1800G= (p.Gln600=) c.1743G= (p.Gln581=) c.1677G= (p.Gln559=) c.243G= (p.Gln81=) c.1656G= (p.Gln552=) c.1791G= (p.Gln597=) c.1797G= (p.Gln599=) c.1713G= (p.Gln571=) c.1641G= (p.Gln547=) c.1575G= (p.Gln525=) c.936G= (p.Gln312=) c.1554G= (p.Gln518=) | |
9 | g.137776638G>T | CA375775613 | EHMT1 | c.1812G>T (p.Gln604His) c.1698G>T (p.Gln566His) c.1719G>T (p.Gln573His) c.1852G>T (n.1852G>T) c.1439G>T c.981G>T (p.Gln327His) c.*1547G>T (n.*1547G>T) c.669G>T (p.Gln223His) c.360G>T (p.Gln120His) n.1811C>A c.1803G>T (p.Gln601His) c.1794G>T (p.Gln598His) c.1821G>T (p.Gln607His) c.1818G>T (p.Gln606His) c.1800G>T (p.Gln600His) c.1743G>T (p.Gln581His) c.1677G>T (p.Gln559His) c.243G>T (p.Gln81His) c.1656G>T (p.Gln552His) c.1791G>T (p.Gln597His) c.1797G>T (p.Gln599His) c.1713G>T (p.Gln571His) c.1641G>T (p.Gln547His) c.1575G>T (p.Gln525His) c.936G>T (p.Gln312His) c.1554G>T (p.Gln518His) | |
9 | g.137776639C>A | CA375775621 | EHMT1 | c.1813C>A (p.Pro605Thr) c.1699C>A (p.Pro567Thr) c.1720C>A (p.Pro574Thr) c.1853C>A (n.1853C>A) c.1440C>A c.982C>A (p.Pro328Thr) c.*1548C>A (n.*1548C>A) c.670C>A (p.Pro224Thr) c.361C>A (p.Pro121Thr) n.1810G>T c.1804C>A (p.Pro602Thr) c.1795C>A (p.Pro599Thr) c.1822C>A (p.Pro608Thr) c.1819C>A (p.Pro607Thr) c.1801C>A (p.Pro601Thr) c.1744C>A (p.Pro582Thr) c.1678C>A (p.Pro560Thr) c.244C>A (p.Pro82Thr) c.1657C>A (p.Pro553Thr) c.1792C>A (p.Pro598Thr) c.1798C>A (p.Pro600Thr) c.1714C>A (p.Pro572Thr) c.1642C>A (p.Pro548Thr) c.1576C>A (p.Pro526Thr) c.937C>A (p.Pro313Thr) c.1555C>A (p.Pro519Thr) | |
9 | g.137776639C= | CA1884666468 | EHMT1 | c.1813C= (p.Pro605=) c.1699C= (p.Pro567=) c.1720C= (p.Pro574=) c.1853C= (n.1853C=) c.1440C= c.982C= (p.Pro328=) c.*1548C= (n.*1548C=) c.670C= (p.Pro224=) c.361C= (p.Pro121=) n.1810G= c.1804C= (p.Pro602=) c.1795C= (p.Pro599=) c.1822C= (p.Pro608=) c.1819C= (p.Pro607=) c.1801C= (p.Pro601=) c.1744C= (p.Pro582=) c.1678C= (p.Pro560=) c.244C= (p.Pro82=) c.1657C= (p.Pro553=) c.1792C= (p.Pro598=) c.1798C= (p.Pro600=) c.1714C= (p.Pro572=) c.1642C= (p.Pro548=) c.1576C= (p.Pro526=) c.937C= (p.Pro313=) c.1555C= (p.Pro519=) | |
9 | g.137776639C>G | CA375775622 | EHMT1 | c.1813C>G (p.Pro605Ala) c.1699C>G (p.Pro567Ala) c.1720C>G (p.Pro574Ala) c.1853C>G (n.1853C>G) c.1440C>G c.982C>G (p.Pro328Ala) c.*1548C>G (n.*1548C>G) c.670C>G (p.Pro224Ala) c.361C>G (p.Pro121Ala) n.1810G>C c.1804C>G (p.Pro602Ala) c.1795C>G (p.Pro599Ala) c.1822C>G (p.Pro608Ala) c.1819C>G (p.Pro607Ala) c.1801C>G (p.Pro601Ala) c.1744C>G (p.Pro582Ala) c.1678C>G (p.Pro560Ala) c.244C>G (p.Pro82Ala) c.1657C>G (p.Pro553Ala) c.1792C>G (p.Pro598Ala) c.1798C>G (p.Pro600Ala) c.1714C>G (p.Pro572Ala) c.1642C>G (p.Pro548Ala) c.1576C>G (p.Pro526Ala) c.937C>G (p.Pro313Ala) c.1555C>G (p.Pro519Ala) | |
9 | g.137776639C>T | CA375775631 | EHMT1 | c.1813C>T (p.Pro605Ser) c.1699C>T (p.Pro567Ser) c.1720C>T (p.Pro574Ser) c.1853C>T (n.1853C>T) c.1440C>T c.982C>T (p.Pro328Ser) c.*1548C>T (n.*1548C>T) c.670C>T (p.Pro224Ser) c.361C>T (p.Pro121Ser) n.1810G>A c.1804C>T (p.Pro602Ser) c.1795C>T (p.Pro599Ser) c.1822C>T (p.Pro608Ser) c.1819C>T (p.Pro607Ser) c.1801C>T (p.Pro601Ser) c.1744C>T (p.Pro582Ser) c.1678C>T (p.Pro560Ser) c.244C>T (p.Pro82Ser) c.1657C>T (p.Pro553Ser) c.1792C>T (p.Pro598Ser) c.1798C>T (p.Pro600Ser) c.1714C>T (p.Pro572Ser) c.1642C>T (p.Pro548Ser) c.1576C>T (p.Pro526Ser) c.937C>T (p.Pro313Ser) c.1555C>T (p.Pro519Ser) | ClinVar dbSNP |
9 | g.137776640C>A | CA375775636 | EHMT1 | c.1814C>A (p.Pro605His) c.1700C>A (p.Pro567His) c.1721C>A (p.Pro574His) c.1854C>A (n.1854C>A) c.1441C>A c.983C>A (p.Pro328His) c.*1549C>A (n.*1549C>A) c.671C>A (p.Pro224His) c.362C>A (p.Pro121His) n.1809G>T c.1805C>A (p.Pro602His) c.1796C>A (p.Pro599His) c.1823C>A (p.Pro608His) c.1820C>A (p.Pro607His) c.1802C>A (p.Pro601His) c.1745C>A (p.Pro582His) c.1679C>A (p.Pro560His) c.245C>A (p.Pro82His) c.1658C>A (p.Pro553His) c.1793C>A (p.Pro598His) c.1799C>A (p.Pro600His) c.1715C>A (p.Pro572His) c.1643C>A (p.Pro548His) c.1577C>A (p.Pro526His) c.938C>A (p.Pro313His) c.1556C>A (p.Pro519His) | |
9 | g.137776640C= | CA1884666469 | EHMT1 | c.1814C= (p.Pro605=) c.1700C= (p.Pro567=) c.1721C= (p.Pro574=) c.1854C= (n.1854C=) c.1441C= c.983C= (p.Pro328=) c.*1549C= (n.*1549C=) c.671C= (p.Pro224=) c.362C= (p.Pro121=) n.1809G= c.1805C= (p.Pro602=) c.1796C= (p.Pro599=) c.1823C= (p.Pro608=) c.1820C= (p.Pro607=) c.1802C= (p.Pro601=) c.1745C= (p.Pro582=) c.1679C= (p.Pro560=) c.245C= (p.Pro82=) c.1658C= (p.Pro553=) c.1793C= (p.Pro598=) c.1799C= (p.Pro600=) c.1715C= (p.Pro572=) c.1643C= (p.Pro548=) c.1577C= (p.Pro526=) c.938C= (p.Pro313=) c.1556C= (p.Pro519=) | |
9 | g.137776640C>G | CA375775642 | EHMT1 | c.1814C>G (p.Pro605Arg) c.1700C>G (p.Pro567Arg) c.1721C>G (p.Pro574Arg) c.1854C>G (n.1854C>G) c.1441C>G c.983C>G (p.Pro328Arg) c.*1549C>G (n.*1549C>G) c.671C>G (p.Pro224Arg) c.362C>G (p.Pro121Arg) n.1809G>C c.1805C>G (p.Pro602Arg) c.1796C>G (p.Pro599Arg) c.1823C>G (p.Pro608Arg) c.1820C>G (p.Pro607Arg) c.1802C>G (p.Pro601Arg) c.1745C>G (p.Pro582Arg) c.1679C>G (p.Pro560Arg) c.245C>G (p.Pro82Arg) c.1658C>G (p.Pro553Arg) c.1793C>G (p.Pro598Arg) c.1799C>G (p.Pro600Arg) c.1715C>G (p.Pro572Arg) c.1643C>G (p.Pro548Arg) c.1577C>G (p.Pro526Arg) c.938C>G (p.Pro313Arg) c.1556C>G (p.Pro519Arg) | |
9 | g.137776640C>T | CA5374741 | EHMT1 | c.1814C>T (p.Pro605Leu) c.1700C>T (p.Pro567Leu) c.1721C>T (p.Pro574Leu) c.1854C>T (n.1854C>T) c.1441C>T c.983C>T (p.Pro328Leu) c.*1549C>T (n.*1549C>T) c.671C>T (p.Pro224Leu) c.362C>T (p.Pro121Leu) n.1809G>A c.1805C>T (p.Pro602Leu) c.1796C>T (p.Pro599Leu) c.1823C>T (p.Pro608Leu) c.1820C>T (p.Pro607Leu) c.1802C>T (p.Pro601Leu) c.1745C>T (p.Pro582Leu) c.1679C>T (p.Pro560Leu) c.245C>T (p.Pro82Leu) c.1658C>T (p.Pro553Leu) c.1793C>T (p.Pro598Leu) c.1799C>T (p.Pro600Leu) c.1715C>T (p.Pro572Leu) c.1643C>T (p.Pro548Leu) c.1577C>T (p.Pro526Leu) c.938C>T (p.Pro313Leu) c.1556C>T (p.Pro519Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776641C>A | CA5374743 | EHMT1 | c.1815C>A (p.Pro605=) c.1701C>A (p.Pro567=) c.1722C>A (p.Pro574=) c.1855C>A (n.1855C>A) c.1442C>A c.984C>A (p.Pro328=) c.*1550C>A (n.*1550C>A) c.672C>A (p.Pro224=) c.363C>A (p.Pro121=) n.1808G>T c.1806C>A (p.Pro602=) c.1797C>A (p.Pro599=) c.1824C>A (p.Pro608=) c.1821C>A (p.Pro607=) c.1803C>A (p.Pro601=) c.1746C>A (p.Pro582=) c.1680C>A (p.Pro560=) c.246C>A (p.Pro82=) c.1659C>A (p.Pro553=) c.1794C>A (p.Pro598=) c.1800C>A (p.Pro600=) c.1716C>A (p.Pro572=) c.1644C>A (p.Pro548=) c.1578C>A (p.Pro526=) c.939C>A (p.Pro313=) c.1557C>A (p.Pro519=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137776641C= | CA1884666470 | EHMT1 | c.1815C= (p.Pro605=) c.1701C= (p.Pro567=) c.1722C= (p.Pro574=) c.1855C= (n.1855C=) c.1442C= c.984C= (p.Pro328=) c.*1550C= (n.*1550C=) c.672C= (p.Pro224=) c.363C= (p.Pro121=) n.1808G= c.1806C= (p.Pro602=) c.1797C= (p.Pro599=) c.1824C= (p.Pro608=) c.1821C= (p.Pro607=) c.1803C= (p.Pro601=) c.1746C= (p.Pro582=) c.1680C= (p.Pro560=) c.246C= (p.Pro82=) c.1659C= (p.Pro553=) c.1794C= (p.Pro598=) c.1800C= (p.Pro600=) c.1716C= (p.Pro572=) c.1644C= (p.Pro548=) c.1578C= (p.Pro526=) c.939C= (p.Pro313=) c.1557C= (p.Pro519=) | |
9 | g.137776641C>G | CA467874044 | EHMT1 | c.1815C>G (p.Pro605=) c.1701C>G (p.Pro567=) c.1722C>G (p.Pro574=) c.1855C>G (n.1855C>G) c.1442C>G c.984C>G (p.Pro328=) c.*1550C>G (n.*1550C>G) c.672C>G (p.Pro224=) c.363C>G (p.Pro121=) n.1808G>C c.1806C>G (p.Pro602=) c.1797C>G (p.Pro599=) c.1824C>G (p.Pro608=) c.1821C>G (p.Pro607=) c.1803C>G (p.Pro601=) c.1746C>G (p.Pro582=) c.1680C>G (p.Pro560=) c.246C>G (p.Pro82=) c.1659C>G (p.Pro553=) c.1794C>G (p.Pro598=) c.1800C>G (p.Pro600=) c.1716C>G (p.Pro572=) c.1644C>G (p.Pro548=) c.1578C>G (p.Pro526=) c.939C>G (p.Pro313=) c.1557C>G (p.Pro519=) | |
9 | g.137776641C>T | CA5374742 | EHMT1 | c.1815C>T (p.Pro605=) c.1701C>T (p.Pro567=) c.1722C>T (p.Pro574=) c.1855C>T (n.1855C>T) c.1442C>T c.984C>T (p.Pro328=) c.*1550C>T (n.*1550C>T) c.672C>T (p.Pro224=) c.363C>T (p.Pro121=) n.1808G>A c.1806C>T (p.Pro602=) c.1797C>T (p.Pro599=) c.1824C>T (p.Pro608=) c.1821C>T (p.Pro607=) c.1803C>T (p.Pro601=) c.1746C>T (p.Pro582=) c.1680C>T (p.Pro560=) c.246C>T (p.Pro82=) c.1659C>T (p.Pro553=) c.1794C>T (p.Pro598=) c.1800C>T (p.Pro600=) c.1716C>T (p.Pro572=) c.1644C>T (p.Pro548=) c.1578C>T (p.Pro526=) c.939C>T (p.Pro313=) c.1557C>T (p.Pro519=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776642G>A | CA5374744 | EHMT1 | c.1816G>A (p.Glu606Lys) c.1702G>A (p.Glu568Lys) c.1723G>A (p.Glu575Lys) c.1856G>A (n.1856G>A) c.1443G>A c.985G>A (p.Glu329Lys) c.*1551G>A (n.*1551G>A) c.673G>A (p.Glu225Lys) c.364G>A (p.Glu122Lys) n.1807C>T c.1807G>A (p.Glu603Lys) c.1798G>A (p.Glu600Lys) c.1825G>A (p.Glu609Lys) c.1822G>A (p.Glu608Lys) c.1804G>A (p.Glu602Lys) c.1747G>A (p.Glu583Lys) c.1681G>A (p.Glu561Lys) c.247G>A (p.Glu83Lys) c.1660G>A (p.Glu554Lys) c.1795G>A (p.Glu599Lys) c.1801G>A (p.Glu601Lys) c.1717G>A (p.Glu573Lys) c.1645G>A (p.Glu549Lys) c.1579G>A (p.Glu527Lys) c.940G>A (p.Glu314Lys) c.1558G>A (p.Glu520Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776642G>C | CA375775665 | EHMT1 | c.1816G>C (p.Glu606Gln) c.1702G>C (p.Glu568Gln) c.1723G>C (p.Glu575Gln) c.1856G>C (n.1856G>C) c.1443G>C c.985G>C (p.Glu329Gln) c.*1551G>C (n.*1551G>C) c.673G>C (p.Glu225Gln) c.364G>C (p.Glu122Gln) n.1807C>G c.1807G>C (p.Glu603Gln) c.1798G>C (p.Glu600Gln) c.1825G>C (p.Glu609Gln) c.1822G>C (p.Glu608Gln) c.1804G>C (p.Glu602Gln) c.1747G>C (p.Glu583Gln) c.1681G>C (p.Glu561Gln) c.247G>C (p.Glu83Gln) c.1660G>C (p.Glu554Gln) c.1795G>C (p.Glu599Gln) c.1801G>C (p.Glu601Gln) c.1717G>C (p.Glu573Gln) c.1645G>C (p.Glu549Gln) c.1579G>C (p.Glu527Gln) c.940G>C (p.Glu314Gln) c.1558G>C (p.Glu520Gln) | |
9 | g.137776642G= | CA1884666471 | EHMT1 | c.1816G= (p.Glu606=) c.1702G= (p.Glu568=) c.1723G= (p.Glu575=) c.1856G= (n.1856G=) c.1443G= c.985G= (p.Glu329=) c.*1551G= (n.*1551G=) c.673G= (p.Glu225=) c.364G= (p.Glu122=) n.1807C= c.1807G= (p.Glu603=) c.1798G= (p.Glu600=) c.1825G= (p.Glu609=) c.1822G= (p.Glu608=) c.1804G= (p.Glu602=) c.1747G= (p.Glu583=) c.1681G= (p.Glu561=) c.247G= (p.Glu83=) c.1660G= (p.Glu554=) c.1795G= (p.Glu599=) c.1801G= (p.Glu601=) c.1717G= (p.Glu573=) c.1645G= (p.Glu549=) c.1579G= (p.Glu527=) c.940G= (p.Glu314=) c.1558G= (p.Glu520=) | |
9 | g.137776642G>T | CA375775661 | EHMT1 | c.1816G>T (p.Glu606Ter) c.1702G>T (p.Glu568Ter) c.1723G>T (p.Glu575Ter) c.1856G>T (n.1856G>T) c.1443G>T c.985G>T (p.Glu329Ter) c.*1551G>T (n.*1551G>T) c.673G>T (p.Glu225Ter) c.364G>T (p.Glu122Ter) n.1807C>A c.1807G>T (p.Glu603Ter) c.1798G>T (p.Glu600Ter) c.1825G>T (p.Glu609Ter) c.1822G>T (p.Glu608Ter) c.1804G>T (p.Glu602Ter) c.1747G>T (p.Glu583Ter) c.1681G>T (p.Glu561Ter) c.247G>T (p.Glu83Ter) c.1660G>T (p.Glu554Ter) c.1795G>T (p.Glu599Ter) c.1801G>T (p.Glu601Ter) c.1717G>T (p.Glu573Ter) c.1645G>T (p.Glu549Ter) c.1579G>T (p.Glu527Ter) c.940G>T (p.Glu314Ter) c.1558G>T (p.Glu520Ter) | gnomAD v4 |
9 | g.137776643A>C | CA375775671 | EHMT1 | c.1817A>C (p.Glu606Ala) c.1703A>C (p.Glu568Ala) c.1724A>C (p.Glu575Ala) c.1857A>C (n.1857A>C) c.1444A>C c.986A>C (p.Glu329Ala) c.*1552A>C (n.*1552A>C) c.674A>C (p.Glu225Ala) c.365A>C (p.Glu122Ala) n.1806T>G c.1808A>C (p.Glu603Ala) c.1799A>C (p.Glu600Ala) c.1826A>C (p.Glu609Ala) c.1823A>C (p.Glu608Ala) c.1805A>C (p.Glu602Ala) c.1748A>C (p.Glu583Ala) c.1682A>C (p.Glu561Ala) c.248A>C (p.Glu83Ala) c.1661A>C (p.Glu554Ala) c.1796A>C (p.Glu599Ala) c.1802A>C (p.Glu601Ala) c.1718A>C (p.Glu573Ala) c.1646A>C (p.Glu549Ala) c.1580A>C (p.Glu527Ala) c.941A>C (p.Glu314Ala) c.1559A>C (p.Glu520Ala) | |
9 | g.137776643A>G | CA375775673 | EHMT1 | c.1817A>G (p.Glu606Gly) c.1703A>G (p.Glu568Gly) c.1724A>G (p.Glu575Gly) c.1857A>G (n.1857A>G) c.1444A>G c.986A>G (p.Glu329Gly) c.*1552A>G (n.*1552A>G) c.674A>G (p.Glu225Gly) c.365A>G (p.Glu122Gly) n.1806T>C c.1808A>G (p.Glu603Gly) c.1799A>G (p.Glu600Gly) c.1826A>G (p.Glu609Gly) c.1823A>G (p.Glu608Gly) c.1805A>G (p.Glu602Gly) c.1748A>G (p.Glu583Gly) c.1682A>G (p.Glu561Gly) c.248A>G (p.Glu83Gly) c.1661A>G (p.Glu554Gly) c.1796A>G (p.Glu599Gly) c.1802A>G (p.Glu601Gly) c.1718A>G (p.Glu573Gly) c.1646A>G (p.Glu549Gly) c.1580A>G (p.Glu527Gly) c.941A>G (p.Glu314Gly) c.1559A>G (p.Glu520Gly) | |
9 | g.137776643A>T | CA375775675 | EHMT1 | c.1817A>T (p.Glu606Val) c.1703A>T (p.Glu568Val) c.1724A>T (p.Glu575Val) c.1857A>T (n.1857A>T) c.1444A>T c.986A>T (p.Glu329Val) c.*1552A>T (n.*1552A>T) c.674A>T (p.Glu225Val) c.365A>T (p.Glu122Val) n.1806T>A c.1808A>T (p.Glu603Val) c.1799A>T (p.Glu600Val) c.1826A>T (p.Glu609Val) c.1823A>T (p.Glu608Val) c.1805A>T (p.Glu602Val) c.1748A>T (p.Glu583Val) c.1682A>T (p.Glu561Val) c.248A>T (p.Glu83Val) c.1661A>T (p.Glu554Val) c.1796A>T (p.Glu599Val) c.1802A>T (p.Glu601Val) c.1718A>T (p.Glu573Val) c.1646A>T (p.Glu549Val) c.1580A>T (p.Glu527Val) c.941A>T (p.Glu314Val) c.1559A>T (p.Glu520Val) | |
9 | g.137776644G>A | CA467874045 | EHMT1 | c.1818G>A (p.Glu606=) c.1704G>A (p.Glu568=) c.1725G>A (p.Glu575=) c.1858G>A (n.1858G>A) c.1445G>A c.987G>A (p.Glu329=) c.*1553G>A (n.*1553G>A) c.675G>A (p.Glu225=) c.366G>A (p.Glu122=) n.1805C>T c.1809G>A (p.Glu603=) c.1800G>A (p.Glu600=) c.1827G>A (p.Glu609=) c.1824G>A (p.Glu608=) c.1806G>A (p.Glu602=) c.1749G>A (p.Glu583=) c.1683G>A (p.Glu561=) c.249G>A (p.Glu83=) c.1662G>A (p.Glu554=) c.1797G>A (p.Glu599=) c.1803G>A (p.Glu601=) c.1719G>A (p.Glu573=) c.1647G>A (p.Glu549=) c.1581G>A (p.Glu527=) c.942G>A (p.Glu314=) c.1560G>A (p.Glu520=) | |
9 | g.137776644G>C | CA375775676 | EHMT1 | c.1818G>C (p.Glu606Asp) c.1704G>C (p.Glu568Asp) c.1725G>C (p.Glu575Asp) c.1858G>C (n.1858G>C) c.1445G>C c.987G>C (p.Glu329Asp) c.*1553G>C (n.*1553G>C) c.675G>C (p.Glu225Asp) c.366G>C (p.Glu122Asp) n.1805C>G c.1809G>C (p.Glu603Asp) c.1800G>C (p.Glu600Asp) c.1827G>C (p.Glu609Asp) c.1824G>C (p.Glu608Asp) c.1806G>C (p.Glu602Asp) c.1749G>C (p.Glu583Asp) c.1683G>C (p.Glu561Asp) c.249G>C (p.Glu83Asp) c.1662G>C (p.Glu554Asp) c.1797G>C (p.Glu599Asp) c.1803G>C (p.Glu601Asp) c.1719G>C (p.Glu573Asp) c.1647G>C (p.Glu549Asp) c.1581G>C (p.Glu527Asp) c.942G>C (p.Glu314Asp) c.1560G>C (p.Glu520Asp) | |
9 | g.137776644G>T | CA375775678 | EHMT1 | c.1818G>T (p.Glu606Asp) c.1704G>T (p.Glu568Asp) c.1725G>T (p.Glu575Asp) c.1858G>T (n.1858G>T) c.1445G>T c.987G>T (p.Glu329Asp) c.*1553G>T (n.*1553G>T) c.675G>T (p.Glu225Asp) c.366G>T (p.Glu122Asp) n.1805C>A c.1809G>T (p.Glu603Asp) c.1800G>T (p.Glu600Asp) c.1827G>T (p.Glu609Asp) c.1824G>T (p.Glu608Asp) c.1806G>T (p.Glu602Asp) c.1749G>T (p.Glu583Asp) c.1683G>T (p.Glu561Asp) c.249G>T (p.Glu83Asp) c.1662G>T (p.Glu554Asp) c.1797G>T (p.Glu599Asp) c.1803G>T (p.Glu601Asp) c.1719G>T (p.Glu573Asp) c.1647G>T (p.Glu549Asp) c.1581G>T (p.Glu527Asp) c.942G>T (p.Glu314Asp) c.1560G>T (p.Glu520Asp) | |
9 | g.137776645A= | CA1884666472 | EHMT1 | c.1819A= (p.Ser607=) c.1705A= (p.Ser569=) c.1726A= (p.Ser576=) c.1859A= (n.1859A=) c.1446A= c.988A= (p.Ser330=) c.*1554A= (n.*1554A=) c.676A= (p.Ser226=) c.367A= (p.Ser123=) n.1804T= c.1810A= (p.Ser604=) c.1801A= (p.Ser601=) c.1828A= (p.Ser610=) c.1825A= (p.Ser609=) c.1807A= (p.Ser603=) c.1750A= (p.Ser584=) c.1684A= (p.Ser562=) c.250A= (p.Ser84=) c.1663A= (p.Ser555=) c.1798A= (p.Ser600=) c.1804A= (p.Ser602=) c.1720A= (p.Ser574=) c.1648A= (p.Ser550=) c.1582A= (p.Ser528=) c.943A= (p.Ser315=) c.1561A= (p.Ser521=) | |
9 | g.137776645A>C | CA375775680 | EHMT1 | c.1819A>C (p.Ser607Arg) c.1705A>C (p.Ser569Arg) c.1726A>C (p.Ser576Arg) c.1859A>C (n.1859A>C) c.1446A>C c.988A>C (p.Ser330Arg) c.*1554A>C (n.*1554A>C) c.676A>C (p.Ser226Arg) c.367A>C (p.Ser123Arg) n.1804T>G c.1810A>C (p.Ser604Arg) c.1801A>C (p.Ser601Arg) c.1828A>C (p.Ser610Arg) c.1825A>C (p.Ser609Arg) c.1807A>C (p.Ser603Arg) c.1750A>C (p.Ser584Arg) c.1684A>C (p.Ser562Arg) c.250A>C (p.Ser84Arg) c.1663A>C (p.Ser555Arg) c.1798A>C (p.Ser600Arg) c.1804A>C (p.Ser602Arg) c.1720A>C (p.Ser574Arg) c.1648A>C (p.Ser550Arg) c.1582A>C (p.Ser528Arg) c.943A>C (p.Ser315Arg) c.1561A>C (p.Ser521Arg) | |
9 | g.137776645A>G | CA375775682 | EHMT1 | c.1819A>G (p.Ser607Gly) c.1705A>G (p.Ser569Gly) c.1726A>G (p.Ser576Gly) c.1859A>G (n.1859A>G) c.1446A>G c.988A>G (p.Ser330Gly) c.*1554A>G (n.*1554A>G) c.676A>G (p.Ser226Gly) c.367A>G (p.Ser123Gly) n.1804T>C c.1810A>G (p.Ser604Gly) c.1801A>G (p.Ser601Gly) c.1828A>G (p.Ser610Gly) c.1825A>G (p.Ser609Gly) c.1807A>G (p.Ser603Gly) c.1750A>G (p.Ser584Gly) c.1684A>G (p.Ser562Gly) c.250A>G (p.Ser84Gly) c.1663A>G (p.Ser555Gly) c.1798A>G (p.Ser600Gly) c.1804A>G (p.Ser602Gly) c.1720A>G (p.Ser574Gly) c.1648A>G (p.Ser550Gly) c.1582A>G (p.Ser528Gly) c.943A>G (p.Ser315Gly) c.1561A>G (p.Ser521Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137776645A>T | CA375775685 | EHMT1 | c.1819A>T (p.Ser607Cys) c.1705A>T (p.Ser569Cys) c.1726A>T (p.Ser576Cys) c.1859A>T (n.1859A>T) c.1446A>T c.988A>T (p.Ser330Cys) c.*1554A>T (n.*1554A>T) c.676A>T (p.Ser226Cys) c.367A>T (p.Ser123Cys) n.1804T>A c.1810A>T (p.Ser604Cys) c.1801A>T (p.Ser601Cys) c.1828A>T (p.Ser610Cys) c.1825A>T (p.Ser609Cys) c.1807A>T (p.Ser603Cys) c.1750A>T (p.Ser584Cys) c.1684A>T (p.Ser562Cys) c.250A>T (p.Ser84Cys) c.1663A>T (p.Ser555Cys) c.1798A>T (p.Ser600Cys) c.1804A>T (p.Ser602Cys) c.1720A>T (p.Ser574Cys) c.1648A>T (p.Ser550Cys) c.1582A>T (p.Ser528Cys) c.943A>T (p.Ser315Cys) c.1561A>T (p.Ser521Cys) | |
9 | g.137776646G>A | CA375775694 | EHMT1 | c.1820G>A (p.Ser607Asn) c.1706G>A (p.Ser569Asn) c.1727G>A (p.Ser576Asn) c.1860G>A (n.1860G>A) c.1447G>A c.989G>A (p.Ser330Asn) c.*1555G>A (n.*1555G>A) c.677G>A (p.Ser226Asn) c.368G>A (p.Ser123Asn) n.1803C>T c.1811G>A (p.Ser604Asn) c.1802G>A (p.Ser601Asn) c.1829G>A (p.Ser610Asn) c.1826G>A (p.Ser609Asn) c.1808G>A (p.Ser603Asn) c.1751G>A (p.Ser584Asn) c.1685G>A (p.Ser562Asn) c.251G>A (p.Ser84Asn) c.1664G>A (p.Ser555Asn) c.1799G>A (p.Ser600Asn) c.1805G>A (p.Ser602Asn) c.1721G>A (p.Ser574Asn) c.1649G>A (p.Ser550Asn) c.1583G>A (p.Ser528Asn) c.944G>A (p.Ser315Asn) c.1562G>A (p.Ser521Asn) | |
9 | g.137776646G>C | CA375775704 | EHMT1 | c.1820G>C (p.Ser607Thr) c.1706G>C (p.Ser569Thr) c.1727G>C (p.Ser576Thr) c.1860G>C (n.1860G>C) c.1447G>C c.989G>C (p.Ser330Thr) c.*1555G>C (n.*1555G>C) c.677G>C (p.Ser226Thr) c.368G>C (p.Ser123Thr) n.1803C>G c.1811G>C (p.Ser604Thr) c.1802G>C (p.Ser601Thr) c.1829G>C (p.Ser610Thr) c.1826G>C (p.Ser609Thr) c.1808G>C (p.Ser603Thr) c.1751G>C (p.Ser584Thr) c.1685G>C (p.Ser562Thr) c.251G>C (p.Ser84Thr) c.1664G>C (p.Ser555Thr) c.1799G>C (p.Ser600Thr) c.1805G>C (p.Ser602Thr) c.1721G>C (p.Ser574Thr) c.1649G>C (p.Ser550Thr) c.1583G>C (p.Ser528Thr) c.944G>C (p.Ser315Thr) c.1562G>C (p.Ser521Thr) | ClinVar dbSNP |
9 | g.137776646G>T | CA375775705 | EHMT1 | c.1820G>T (p.Ser607Ile) c.1706G>T (p.Ser569Ile) c.1727G>T (p.Ser576Ile) c.1860G>T (n.1860G>T) c.1447G>T c.989G>T (p.Ser330Ile) c.*1555G>T (n.*1555G>T) c.677G>T (p.Ser226Ile) c.368G>T (p.Ser123Ile) n.1803C>A c.1811G>T (p.Ser604Ile) c.1802G>T (p.Ser601Ile) c.1829G>T (p.Ser610Ile) c.1826G>T (p.Ser609Ile) c.1808G>T (p.Ser603Ile) c.1751G>T (p.Ser584Ile) c.1685G>T (p.Ser562Ile) c.251G>T (p.Ser84Ile) c.1664G>T (p.Ser555Ile) c.1799G>T (p.Ser600Ile) c.1805G>T (p.Ser602Ile) c.1721G>T (p.Ser574Ile) c.1649G>T (p.Ser550Ile) c.1583G>T (p.Ser528Ile) c.944G>T (p.Ser315Ile) c.1562G>T (p.Ser521Ile) | |
9 | g.137776647C>A | CA375775711 | EHMT1 | c.1821C>A (p.Ser607Arg) c.1707C>A (p.Ser569Arg) c.1728C>A (p.Ser576Arg) c.1861C>A (n.1861C>A) c.1448C>A c.990C>A (p.Ser330Arg) c.*1556C>A (n.*1556C>A) c.678C>A (p.Ser226Arg) c.369C>A (p.Ser123Arg) n.1802G>T c.1812C>A (p.Ser604Arg) c.1803C>A (p.Ser601Arg) c.1830C>A (p.Ser610Arg) c.1827C>A (p.Ser609Arg) c.1809C>A (p.Ser603Arg) c.1752C>A (p.Ser584Arg) c.1686C>A (p.Ser562Arg) c.252C>A (p.Ser84Arg) c.1665C>A (p.Ser555Arg) c.1800C>A (p.Ser600Arg) c.1806C>A (p.Ser602Arg) c.1722C>A (p.Ser574Arg) c.1650C>A (p.Ser550Arg) c.1584C>A (p.Ser528Arg) c.945C>A (p.Ser315Arg) c.1563C>A (p.Ser521Arg) | |
9 | g.137776647C>G | CA375775720 | EHMT1 | c.1821C>G (p.Ser607Arg) c.1707C>G (p.Ser569Arg) c.1728C>G (p.Ser576Arg) c.1861C>G (n.1861C>G) c.1448C>G c.990C>G (p.Ser330Arg) c.*1556C>G (n.*1556C>G) c.678C>G (p.Ser226Arg) c.369C>G (p.Ser123Arg) n.1802G>C c.1812C>G (p.Ser604Arg) c.1803C>G (p.Ser601Arg) c.1830C>G (p.Ser610Arg) c.1827C>G (p.Ser609Arg) c.1809C>G (p.Ser603Arg) c.1752C>G (p.Ser584Arg) c.1686C>G (p.Ser562Arg) c.252C>G (p.Ser84Arg) c.1665C>G (p.Ser555Arg) c.1800C>G (p.Ser600Arg) c.1806C>G (p.Ser602Arg) c.1722C>G (p.Ser574Arg) c.1650C>G (p.Ser550Arg) c.1584C>G (p.Ser528Arg) c.945C>G (p.Ser315Arg) c.1563C>G (p.Ser521Arg) | |
9 | g.137776647C>T | CA467874046 | EHMT1 | c.1821C>T (p.Ser607=) c.1707C>T (p.Ser569=) c.1728C>T (p.Ser576=) c.1861C>T (n.1861C>T) c.1448C>T c.990C>T (p.Ser330=) c.*1556C>T (n.*1556C>T) c.678C>T (p.Ser226=) c.369C>T (p.Ser123=) n.1802G>A c.1812C>T (p.Ser604=) c.1803C>T (p.Ser601=) c.1830C>T (p.Ser610=) c.1827C>T (p.Ser609=) c.1809C>T (p.Ser603=) c.1752C>T (p.Ser584=) c.1686C>T (p.Ser562=) c.252C>T (p.Ser84=) c.1665C>T (p.Ser555=) c.1800C>T (p.Ser600=) c.1806C>T (p.Ser602=) c.1722C>T (p.Ser574=) c.1650C>T (p.Ser550=) c.1584C>T (p.Ser528=) c.945C>T (p.Ser315=) c.1563C>T (p.Ser521=) | |
9 | g.137776648A>C | CA375775732 | EHMT1 | c.1822A>C (p.Ser608Arg) c.1708A>C (p.Ser570Arg) c.1729A>C (p.Ser577Arg) c.1862A>C (n.1862A>C) c.1449A>C c.991A>C (p.Ser331Arg) c.*1557A>C (n.*1557A>C) c.679A>C (p.Ser227Arg) c.370A>C (p.Ser124Arg) n.1801T>G c.1813A>C (p.Ser605Arg) c.1804A>C (p.Ser602Arg) c.1831A>C (p.Ser611Arg) c.1828A>C (p.Ser610Arg) c.1810A>C (p.Ser604Arg) c.1753A>C (p.Ser585Arg) c.1687A>C (p.Ser563Arg) c.253A>C (p.Ser85Arg) c.1666A>C (p.Ser556Arg) c.1801A>C (p.Ser601Arg) c.1807A>C (p.Ser603Arg) c.1723A>C (p.Ser575Arg) c.1651A>C (p.Ser551Arg) c.1585A>C (p.Ser529Arg) c.946A>C (p.Ser316Arg) c.1564A>C (p.Ser522Arg) | |
9 | g.137776648A>G | CA375775731 | EHMT1 | c.1822A>G (p.Ser608Gly) c.1708A>G (p.Ser570Gly) c.1729A>G (p.Ser577Gly) c.1862A>G (n.1862A>G) c.1449A>G c.991A>G (p.Ser331Gly) c.*1557A>G (n.*1557A>G) c.679A>G (p.Ser227Gly) c.370A>G (p.Ser124Gly) n.1801T>C c.1813A>G (p.Ser605Gly) c.1804A>G (p.Ser602Gly) c.1831A>G (p.Ser611Gly) c.1828A>G (p.Ser610Gly) c.1810A>G (p.Ser604Gly) c.1753A>G (p.Ser585Gly) c.1687A>G (p.Ser563Gly) c.253A>G (p.Ser85Gly) c.1666A>G (p.Ser556Gly) c.1801A>G (p.Ser601Gly) c.1807A>G (p.Ser603Gly) c.1723A>G (p.Ser575Gly) c.1651A>G (p.Ser551Gly) c.1585A>G (p.Ser529Gly) c.946A>G (p.Ser316Gly) c.1564A>G (p.Ser522Gly) | |
9 | g.137776648A>T | CA375775727 | EHMT1 | c.1822A>T (p.Ser608Cys) c.1708A>T (p.Ser570Cys) c.1729A>T (p.Ser577Cys) c.1862A>T (n.1862A>T) c.1449A>T c.991A>T (p.Ser331Cys) c.*1557A>T (n.*1557A>T) c.679A>T (p.Ser227Cys) c.370A>T (p.Ser124Cys) n.1801T>A c.1813A>T (p.Ser605Cys) c.1804A>T (p.Ser602Cys) c.1831A>T (p.Ser611Cys) c.1828A>T (p.Ser610Cys) c.1810A>T (p.Ser604Cys) c.1753A>T (p.Ser585Cys) c.1687A>T (p.Ser563Cys) c.253A>T (p.Ser85Cys) c.1666A>T (p.Ser556Cys) c.1801A>T (p.Ser601Cys) c.1807A>T (p.Ser603Cys) c.1723A>T (p.Ser575Cys) c.1651A>T (p.Ser551Cys) c.1585A>T (p.Ser529Cys) c.946A>T (p.Ser316Cys) c.1564A>T (p.Ser522Cys) | |
9 | g.137776649G>A | CA375775737 | EHMT1 | c.1823G>A (p.Ser608Asn) c.1709G>A (p.Ser570Asn) c.1730G>A (p.Ser577Asn) c.1863G>A (n.1863G>A) c.1450G>A c.992G>A (p.Ser331Asn) c.*1558G>A (n.*1558G>A) c.680G>A (p.Ser227Asn) c.371G>A (p.Ser124Asn) n.1800C>T c.1814G>A (p.Ser605Asn) c.1805G>A (p.Ser602Asn) c.1832G>A (p.Ser611Asn) c.1829G>A (p.Ser610Asn) c.1811G>A (p.Ser604Asn) c.1754G>A (p.Ser585Asn) c.1688G>A (p.Ser563Asn) c.254G>A (p.Ser85Asn) c.1667G>A (p.Ser556Asn) c.1802G>A (p.Ser601Asn) c.1808G>A (p.Ser603Asn) c.1724G>A (p.Ser575Asn) c.1652G>A (p.Ser551Asn) c.1586G>A (p.Ser529Asn) c.947G>A (p.Ser316Asn) c.1565G>A (p.Ser522Asn) | |
9 | g.137776649G>C | CA375775751 | EHMT1 | c.1823G>C (p.Ser608Thr) c.1709G>C (p.Ser570Thr) c.1730G>C (p.Ser577Thr) c.1863G>C (n.1863G>C) c.1450G>C c.992G>C (p.Ser331Thr) c.*1558G>C (n.*1558G>C) c.680G>C (p.Ser227Thr) c.371G>C (p.Ser124Thr) n.1800C>G c.1814G>C (p.Ser605Thr) c.1805G>C (p.Ser602Thr) c.1832G>C (p.Ser611Thr) c.1829G>C (p.Ser610Thr) c.1811G>C (p.Ser604Thr) c.1754G>C (p.Ser585Thr) c.1688G>C (p.Ser563Thr) c.254G>C (p.Ser85Thr) c.1667G>C (p.Ser556Thr) c.1802G>C (p.Ser601Thr) c.1808G>C (p.Ser603Thr) c.1724G>C (p.Ser575Thr) c.1652G>C (p.Ser551Thr) c.1586G>C (p.Ser529Thr) c.947G>C (p.Ser316Thr) c.1565G>C (p.Ser522Thr) | |
9 | g.137776649G>T | CA375775740 | EHMT1 | c.1823G>T (p.Ser608Ile) c.1709G>T (p.Ser570Ile) c.1730G>T (p.Ser577Ile) c.1863G>T (n.1863G>T) c.1450G>T c.992G>T (p.Ser331Ile) c.*1558G>T (n.*1558G>T) c.680G>T (p.Ser227Ile) c.371G>T (p.Ser124Ile) n.1800C>A c.1814G>T (p.Ser605Ile) c.1805G>T (p.Ser602Ile) c.1832G>T (p.Ser611Ile) c.1829G>T (p.Ser610Ile) c.1811G>T (p.Ser604Ile) c.1754G>T (p.Ser585Ile) c.1688G>T (p.Ser563Ile) c.254G>T (p.Ser85Ile) c.1667G>T (p.Ser556Ile) c.1802G>T (p.Ser601Ile) c.1808G>T (p.Ser603Ile) c.1724G>T (p.Ser575Ile) c.1652G>T (p.Ser551Ile) c.1586G>T (p.Ser529Ile) c.947G>T (p.Ser316Ile) c.1565G>T (p.Ser522Ile) | |
9 | g.137776650C>A | CA375775754 | EHMT1 | c.1824C>A (p.Ser608Arg) c.1710C>A (p.Ser570Arg) c.1731C>A (p.Ser577Arg) c.1864C>A (n.1864C>A) c.1451C>A c.993C>A (p.Ser331Arg) c.*1559C>A (n.*1559C>A) c.681C>A (p.Ser227Arg) c.372C>A (p.Ser124Arg) n.1799G>T c.1815C>A (p.Ser605Arg) c.1806C>A (p.Ser602Arg) c.1833C>A (p.Ser611Arg) c.1830C>A (p.Ser610Arg) c.1812C>A (p.Ser604Arg) c.1755C>A (p.Ser585Arg) c.1689C>A (p.Ser563Arg) c.255C>A (p.Ser85Arg) c.1668C>A (p.Ser556Arg) c.1803C>A (p.Ser601Arg) c.1809C>A (p.Ser603Arg) c.1725C>A (p.Ser575Arg) c.1653C>A (p.Ser551Arg) c.1587C>A (p.Ser529Arg) c.948C>A (p.Ser316Arg) c.1566C>A (p.Ser522Arg) | gnomAD v4 |
9 | g.137776650C= | CA1884666473 | EHMT1 | c.1824C= (p.Ser608=) c.1710C= (p.Ser570=) c.1731C= (p.Ser577=) c.1864C= (n.1864C=) c.1451C= c.993C= (p.Ser331=) c.*1559C= (n.*1559C=) c.681C= (p.Ser227=) c.372C= (p.Ser124=) n.1799G= c.1815C= (p.Ser605=) c.1806C= (p.Ser602=) c.1833C= (p.Ser611=) c.1830C= (p.Ser610=) c.1812C= (p.Ser604=) c.1755C= (p.Ser585=) c.1689C= (p.Ser563=) c.255C= (p.Ser85=) c.1668C= (p.Ser556=) c.1803C= (p.Ser601=) c.1809C= (p.Ser603=) c.1725C= (p.Ser575=) c.1653C= (p.Ser551=) c.1587C= (p.Ser529=) c.948C= (p.Ser316=) c.1566C= (p.Ser522=) | |
9 | g.137776650C>G | CA375775755 | EHMT1 | c.1824C>G (p.Ser608Arg) c.1710C>G (p.Ser570Arg) c.1731C>G (p.Ser577Arg) c.1864C>G (n.1864C>G) c.1451C>G c.993C>G (p.Ser331Arg) c.*1559C>G (n.*1559C>G) c.681C>G (p.Ser227Arg) c.372C>G (p.Ser124Arg) n.1799G>C c.1815C>G (p.Ser605Arg) c.1806C>G (p.Ser602Arg) c.1833C>G (p.Ser611Arg) c.1830C>G (p.Ser610Arg) c.1812C>G (p.Ser604Arg) c.1755C>G (p.Ser585Arg) c.1689C>G (p.Ser563Arg) c.255C>G (p.Ser85Arg) c.1668C>G (p.Ser556Arg) c.1803C>G (p.Ser601Arg) c.1809C>G (p.Ser603Arg) c.1725C>G (p.Ser575Arg) c.1653C>G (p.Ser551Arg) c.1587C>G (p.Ser529Arg) c.948C>G (p.Ser316Arg) c.1566C>G (p.Ser522Arg) | |
9 | g.137776650C>T | CA5374745 | EHMT1 | c.1824C>T (p.Ser608=) c.1710C>T (p.Ser570=) c.1731C>T (p.Ser577=) c.1864C>T (n.1864C>T) c.1451C>T c.993C>T (p.Ser331=) c.*1559C>T (n.*1559C>T) c.681C>T (p.Ser227=) c.372C>T (p.Ser124=) n.1799G>A c.1815C>T (p.Ser605=) c.1806C>T (p.Ser602=) c.1833C>T (p.Ser611=) c.1830C>T (p.Ser610=) c.1812C>T (p.Ser604=) c.1755C>T (p.Ser585=) c.1689C>T (p.Ser563=) c.255C>T (p.Ser85=) c.1668C>T (p.Ser556=) c.1803C>T (p.Ser601=) c.1809C>T (p.Ser603=) c.1725C>T (p.Ser575=) c.1653C>T (p.Ser551=) c.1587C>T (p.Ser529=) c.948C>T (p.Ser316=) c.1566C>T (p.Ser522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776651A= | CA1884666474 | EHMT1 | c.1825A= (p.Ile609=) c.1711A= (p.Ile571=) c.1732A= (p.Ile578=) c.1865A= (n.1865A=) c.1452A= c.994A= (p.Ile332=) c.*1560A= (n.*1560A=) c.682A= (p.Ile228=) c.373A= (p.Ile125=) n.1798T= c.1816A= (p.Ile606=) c.1807A= (p.Ile603=) c.1834A= (p.Ile612=) c.1831A= (p.Ile611=) c.1813A= (p.Ile605=) c.1756A= (p.Ile586=) c.1690A= (p.Ile564=) c.256A= (p.Ile86=) c.1669A= (p.Ile557=) c.1804A= (p.Ile602=) c.1810A= (p.Ile604=) c.1726A= (p.Ile576=) c.1654A= (p.Ile552=) c.1588A= (p.Ile530=) c.949A= (p.Ile317=) c.1567A= (p.Ile523=) | |
9 | g.137776651A>C | CA201804039 | EHMT1 | c.1825A>C (p.Ile609Leu) c.1711A>C (p.Ile571Leu) c.1732A>C (p.Ile578Leu) c.1865A>C (n.1865A>C) c.1452A>C c.994A>C (p.Ile332Leu) c.*1560A>C (n.*1560A>C) c.682A>C (p.Ile228Leu) c.373A>C (p.Ile125Leu) n.1798T>G c.1816A>C (p.Ile606Leu) c.1807A>C (p.Ile603Leu) c.1834A>C (p.Ile612Leu) c.1831A>C (p.Ile611Leu) c.1813A>C (p.Ile605Leu) c.1756A>C (p.Ile586Leu) c.1690A>C (p.Ile564Leu) c.256A>C (p.Ile86Leu) c.1669A>C (p.Ile557Leu) c.1804A>C (p.Ile602Leu) c.1810A>C (p.Ile604Leu) c.1726A>C (p.Ile576Leu) c.1654A>C (p.Ile552Leu) c.1588A>C (p.Ile530Leu) c.949A>C (p.Ile317Leu) c.1567A>C (p.Ile523Leu) | dbSNP |
9 | g.137776651A>G | CA375775758 | EHMT1 | c.1825A>G (p.Ile609Val) c.1711A>G (p.Ile571Val) c.1732A>G (p.Ile578Val) c.1865A>G (n.1865A>G) c.1452A>G c.994A>G (p.Ile332Val) c.*1560A>G (n.*1560A>G) c.682A>G (p.Ile228Val) c.373A>G (p.Ile125Val) n.1798T>C c.1816A>G (p.Ile606Val) c.1807A>G (p.Ile603Val) c.1834A>G (p.Ile612Val) c.1831A>G (p.Ile611Val) c.1813A>G (p.Ile605Val) c.1756A>G (p.Ile586Val) c.1690A>G (p.Ile564Val) c.256A>G (p.Ile86Val) c.1669A>G (p.Ile557Val) c.1804A>G (p.Ile602Val) c.1810A>G (p.Ile604Val) c.1726A>G (p.Ile576Val) c.1654A>G (p.Ile552Val) c.1588A>G (p.Ile530Val) c.949A>G (p.Ile317Val) c.1567A>G (p.Ile523Val) | dbSNP |
9 | g.137776651A>T | CA375775756 | EHMT1 | c.1825A>T (p.Ile609Phe) c.1711A>T (p.Ile571Phe) c.1732A>T (p.Ile578Phe) c.1865A>T (n.1865A>T) c.1452A>T c.994A>T (p.Ile332Phe) c.*1560A>T (n.*1560A>T) c.682A>T (p.Ile228Phe) c.373A>T (p.Ile125Phe) n.1798T>A c.1816A>T (p.Ile606Phe) c.1807A>T (p.Ile603Phe) c.1834A>T (p.Ile612Phe) c.1831A>T (p.Ile611Phe) c.1813A>T (p.Ile605Phe) c.1756A>T (p.Ile586Phe) c.1690A>T (p.Ile564Phe) c.256A>T (p.Ile86Phe) c.1669A>T (p.Ile557Phe) c.1804A>T (p.Ile602Phe) c.1810A>T (p.Ile604Phe) c.1726A>T (p.Ile576Phe) c.1654A>T (p.Ile552Phe) c.1588A>T (p.Ile530Phe) c.949A>T (p.Ile317Phe) c.1567A>T (p.Ile523Phe) | |
9 | g.137776652T>A | CA375775765 | EHMT1 | c.1826T>A (p.Ile609Asn) c.1712T>A (p.Ile571Asn) c.1733T>A (p.Ile578Asn) c.1866T>A (n.1866T>A) c.1453T>A c.995T>A (p.Ile332Asn) c.*1561T>A (n.*1561T>A) c.683T>A (p.Ile228Asn) c.374T>A (p.Ile125Asn) n.1797A>T c.1817T>A (p.Ile606Asn) c.1808T>A (p.Ile603Asn) c.1835T>A (p.Ile612Asn) c.1832T>A (p.Ile611Asn) c.1814T>A (p.Ile605Asn) c.1757T>A (p.Ile586Asn) c.1691T>A (p.Ile564Asn) c.257T>A (p.Ile86Asn) c.1670T>A (p.Ile557Asn) c.1805T>A (p.Ile602Asn) c.1811T>A (p.Ile604Asn) c.1727T>A (p.Ile576Asn) c.1655T>A (p.Ile552Asn) c.1589T>A (p.Ile530Asn) c.950T>A (p.Ile317Asn) c.1568T>A (p.Ile523Asn) | |
9 | g.137776652T>C | CA375775766 | EHMT1 | c.1826T>C (p.Ile609Thr) c.1712T>C (p.Ile571Thr) c.1733T>C (p.Ile578Thr) c.1866T>C (n.1866T>C) c.1453T>C c.995T>C (p.Ile332Thr) c.*1561T>C (n.*1561T>C) c.683T>C (p.Ile228Thr) c.374T>C (p.Ile125Thr) n.1797A>G c.1817T>C (p.Ile606Thr) c.1808T>C (p.Ile603Thr) c.1835T>C (p.Ile612Thr) c.1832T>C (p.Ile611Thr) c.1814T>C (p.Ile605Thr) c.1757T>C (p.Ile586Thr) c.1691T>C (p.Ile564Thr) c.257T>C (p.Ile86Thr) c.1670T>C (p.Ile557Thr) c.1805T>C (p.Ile602Thr) c.1811T>C (p.Ile604Thr) c.1727T>C (p.Ile576Thr) c.1655T>C (p.Ile552Thr) c.1589T>C (p.Ile530Thr) c.950T>C (p.Ile317Thr) c.1568T>C (p.Ile523Thr) | |
9 | g.137776652T>G | CA375775768 | EHMT1 | c.1826T>G (p.Ile609Ser) c.1712T>G (p.Ile571Ser) c.1733T>G (p.Ile578Ser) c.1866T>G (n.1866T>G) c.1453T>G c.995T>G (p.Ile332Ser) c.*1561T>G (n.*1561T>G) c.683T>G (p.Ile228Ser) c.374T>G (p.Ile125Ser) n.1797A>C c.1817T>G (p.Ile606Ser) c.1808T>G (p.Ile603Ser) c.1835T>G (p.Ile612Ser) c.1832T>G (p.Ile611Ser) c.1814T>G (p.Ile605Ser) c.1757T>G (p.Ile586Ser) c.1691T>G (p.Ile564Ser) c.257T>G (p.Ile86Ser) c.1670T>G (p.Ile557Ser) c.1805T>G (p.Ile602Ser) c.1811T>G (p.Ile604Ser) c.1727T>G (p.Ile576Ser) c.1655T>G (p.Ile552Ser) c.1589T>G (p.Ile530Ser) c.950T>G (p.Ile317Ser) c.1568T>G (p.Ile523Ser) | |
9 | g.137776653C>A | CA467874047 | EHMT1 | c.1827C>A (p.Ile609=) c.1713C>A (p.Ile571=) c.1734C>A (p.Ile578=) c.1867C>A (n.1867C>A) c.1454C>A c.996C>A (p.Ile332=) c.*1562C>A (n.*1562C>A) c.684C>A (p.Ile228=) c.375C>A (p.Ile125=) n.1796G>T c.1818C>A (p.Ile606=) c.1809C>A (p.Ile603=) c.1836C>A (p.Ile612=) c.1833C>A (p.Ile611=) c.1815C>A (p.Ile605=) c.1758C>A (p.Ile586=) c.1692C>A (p.Ile564=) c.258C>A (p.Ile86=) c.1671C>A (p.Ile557=) c.1806C>A (p.Ile602=) c.1812C>A (p.Ile604=) c.1728C>A (p.Ile576=) c.1656C>A (p.Ile552=) c.1590C>A (p.Ile530=) c.951C>A (p.Ile317=) c.1569C>A (p.Ile523=) | |
9 | g.137776653C= | CA1884666475 | EHMT1 | c.1827C= (p.Ile609=) c.1713C= (p.Ile571=) c.1734C= (p.Ile578=) c.1867C= (n.1867C=) c.1454C= c.996C= (p.Ile332=) c.*1562C= (n.*1562C=) c.684C= (p.Ile228=) c.375C= (p.Ile125=) n.1796G= c.1818C= (p.Ile606=) c.1809C= (p.Ile603=) c.1836C= (p.Ile612=) c.1833C= (p.Ile611=) c.1815C= (p.Ile605=) c.1758C= (p.Ile586=) c.1692C= (p.Ile564=) c.258C= (p.Ile86=) c.1671C= (p.Ile557=) c.1806C= (p.Ile602=) c.1812C= (p.Ile604=) c.1728C= (p.Ile576=) c.1656C= (p.Ile552=) c.1590C= (p.Ile530=) c.951C= (p.Ile317=) c.1569C= (p.Ile523=) | |
9 | g.137776653C>G | CA375775769 | EHMT1 | c.1827C>G (p.Ile609Met) c.1713C>G (p.Ile571Met) c.1734C>G (p.Ile578Met) c.1867C>G (n.1867C>G) c.1454C>G c.996C>G (p.Ile332Met) c.*1562C>G (n.*1562C>G) c.684C>G (p.Ile228Met) c.375C>G (p.Ile125Met) n.1796G>C c.1818C>G (p.Ile606Met) c.1809C>G (p.Ile603Met) c.1836C>G (p.Ile612Met) c.1833C>G (p.Ile611Met) c.1815C>G (p.Ile605Met) c.1758C>G (p.Ile586Met) c.1692C>G (p.Ile564Met) c.258C>G (p.Ile86Met) c.1671C>G (p.Ile557Met) c.1806C>G (p.Ile602Met) c.1812C>G (p.Ile604Met) c.1728C>G (p.Ile576Met) c.1656C>G (p.Ile552Met) c.1590C>G (p.Ile530Met) c.951C>G (p.Ile317Met) c.1569C>G (p.Ile523Met) | gnomAD v4 |
9 | g.137776653C>T | CA467874048 | EHMT1 | c.1827C>T (p.Ile609=) c.1713C>T (p.Ile571=) c.1734C>T (p.Ile578=) c.1867C>T (n.1867C>T) c.1454C>T c.996C>T (p.Ile332=) c.*1562C>T (n.*1562C>T) c.684C>T (p.Ile228=) c.375C>T (p.Ile125=) n.1796G>A c.1818C>T (p.Ile606=) c.1809C>T (p.Ile603=) c.1836C>T (p.Ile612=) c.1833C>T (p.Ile611=) c.1815C>T (p.Ile605=) c.1758C>T (p.Ile586=) c.1692C>T (p.Ile564=) c.258C>T (p.Ile86=) c.1671C>T (p.Ile557=) c.1806C>T (p.Ile602=) c.1812C>T (p.Ile604=) c.1728C>T (p.Ile576=) c.1656C>T (p.Ile552=) c.1590C>T (p.Ile530=) c.951C>T (p.Ile317=) c.1569C>T (p.Ile523=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137776654T>A | CA375775770 | EHMT1 | c.1828T>A (p.Ser610Thr) c.1714T>A (p.Ser572Thr) c.1735T>A (p.Ser579Thr) c.1868T>A (n.1868T>A) c.1455T>A c.997T>A (p.Ser333Thr) c.*1563T>A (n.*1563T>A) c.685T>A (p.Ser229Thr) c.376T>A (p.Ser126Thr) n.1795A>T c.1819T>A (p.Ser607Thr) c.1810T>A (p.Ser604Thr) c.1837T>A (p.Ser613Thr) c.1834T>A (p.Ser612Thr) c.1816T>A (p.Ser606Thr) c.1759T>A (p.Ser587Thr) c.1693T>A (p.Ser565Thr) c.259T>A (p.Ser87Thr) c.1672T>A (p.Ser558Thr) c.1807T>A (p.Ser603Thr) c.1813T>A (p.Ser605Thr) c.1729T>A (p.Ser577Thr) c.1657T>A (p.Ser553Thr) c.1591T>A (p.Ser531Thr) c.952T>A (p.Ser318Thr) c.1570T>A (p.Ser524Thr) | |
9 | g.137776654T>C | CA375775771 | EHMT1 | c.1828T>C (p.Ser610Pro) c.1714T>C (p.Ser572Pro) c.1735T>C (p.Ser579Pro) c.1868T>C (n.1868T>C) c.1455T>C c.997T>C (p.Ser333Pro) c.*1563T>C (n.*1563T>C) c.685T>C (p.Ser229Pro) c.376T>C (p.Ser126Pro) n.1795A>G c.1819T>C (p.Ser607Pro) c.1810T>C (p.Ser604Pro) c.1837T>C (p.Ser613Pro) c.1834T>C (p.Ser612Pro) c.1816T>C (p.Ser606Pro) c.1759T>C (p.Ser587Pro) c.1693T>C (p.Ser565Pro) c.259T>C (p.Ser87Pro) c.1672T>C (p.Ser558Pro) c.1807T>C (p.Ser603Pro) c.1813T>C (p.Ser605Pro) c.1729T>C (p.Ser577Pro) c.1657T>C (p.Ser553Pro) c.1591T>C (p.Ser531Pro) c.952T>C (p.Ser318Pro) c.1570T>C (p.Ser524Pro) | |
9 | g.137776654T>G | CA375775772 | EHMT1 | c.1828T>G (p.Ser610Ala) c.1714T>G (p.Ser572Ala) c.1735T>G (p.Ser579Ala) c.1868T>G (n.1868T>G) c.1455T>G c.997T>G (p.Ser333Ala) c.*1563T>G (n.*1563T>G) c.685T>G (p.Ser229Ala) c.376T>G (p.Ser126Ala) n.1795A>C c.1819T>G (p.Ser607Ala) c.1810T>G (p.Ser604Ala) c.1837T>G (p.Ser613Ala) c.1834T>G (p.Ser612Ala) c.1816T>G (p.Ser606Ala) c.1759T>G (p.Ser587Ala) c.1693T>G (p.Ser565Ala) c.259T>G (p.Ser87Ala) c.1672T>G (p.Ser558Ala) c.1807T>G (p.Ser603Ala) c.1813T>G (p.Ser605Ala) c.1729T>G (p.Ser577Ala) c.1657T>G (p.Ser553Ala) c.1591T>G (p.Ser531Ala) c.952T>G (p.Ser318Ala) c.1570T>G (p.Ser524Ala) | |
9 | g.137776655C>A | CA375775779 | EHMT1 | c.1829C>A (p.Ser610Tyr) c.1715C>A (p.Ser572Tyr) c.1736C>A (p.Ser579Tyr) c.1869C>A (n.1869C>A) c.1456C>A c.998C>A (p.Ser333Tyr) c.*1564C>A (n.*1564C>A) c.686C>A (p.Ser229Tyr) c.377C>A (p.Ser126Tyr) n.1794G>T c.1820C>A (p.Ser607Tyr) c.1811C>A (p.Ser604Tyr) c.1838C>A (p.Ser613Tyr) c.1835C>A (p.Ser612Tyr) c.1817C>A (p.Ser606Tyr) c.1760C>A (p.Ser587Tyr) c.1694C>A (p.Ser565Tyr) c.260C>A (p.Ser87Tyr) c.1673C>A (p.Ser558Tyr) c.1808C>A (p.Ser603Tyr) c.1814C>A (p.Ser605Tyr) c.1730C>A (p.Ser577Tyr) c.1658C>A (p.Ser553Tyr) c.1592C>A (p.Ser531Tyr) c.953C>A (p.Ser318Tyr) c.1571C>A (p.Ser524Tyr) | |
9 | g.137776655C>G | CA375775781 | EHMT1 | c.1829C>G (p.Ser610Cys) c.1715C>G (p.Ser572Cys) c.1736C>G (p.Ser579Cys) c.1869C>G (n.1869C>G) c.1456C>G c.998C>G (p.Ser333Cys) c.*1564C>G (n.*1564C>G) c.686C>G (p.Ser229Cys) c.377C>G (p.Ser126Cys) n.1794G>C c.1820C>G (p.Ser607Cys) c.1811C>G (p.Ser604Cys) c.1838C>G (p.Ser613Cys) c.1835C>G (p.Ser612Cys) c.1817C>G (p.Ser606Cys) c.1760C>G (p.Ser587Cys) c.1694C>G (p.Ser565Cys) c.260C>G (p.Ser87Cys) c.1673C>G (p.Ser558Cys) c.1808C>G (p.Ser603Cys) c.1814C>G (p.Ser605Cys) c.1730C>G (p.Ser577Cys) c.1658C>G (p.Ser553Cys) c.1592C>G (p.Ser531Cys) c.953C>G (p.Ser318Cys) c.1571C>G (p.Ser524Cys) | |
9 | g.137776655C>T | CA375775783 | EHMT1 | c.1829C>T (p.Ser610Phe) c.1715C>T (p.Ser572Phe) c.1736C>T (p.Ser579Phe) c.1869C>T (n.1869C>T) c.1456C>T c.998C>T (p.Ser333Phe) c.*1564C>T (n.*1564C>T) c.686C>T (p.Ser229Phe) c.377C>T (p.Ser126Phe) n.1794G>A c.1820C>T (p.Ser607Phe) c.1811C>T (p.Ser604Phe) c.1838C>T (p.Ser613Phe) c.1835C>T (p.Ser612Phe) c.1817C>T (p.Ser606Phe) c.1760C>T (p.Ser587Phe) c.1694C>T (p.Ser565Phe) c.260C>T (p.Ser87Phe) c.1673C>T (p.Ser558Phe) c.1808C>T (p.Ser603Phe) c.1814C>T (p.Ser605Phe) c.1730C>T (p.Ser577Phe) c.1658C>T (p.Ser553Phe) c.1592C>T (p.Ser531Phe) c.953C>T (p.Ser318Phe) c.1571C>T (p.Ser524Phe) | |
9 | g.137776656T>A | CA467874049 | EHMT1 | c.1830T>A (p.Ser610=) c.1716T>A (p.Ser572=) c.1737T>A (p.Ser579=) c.1870T>A (n.1870T>A) c.1457T>A c.999T>A (p.Ser333=) c.*1565T>A (n.*1565T>A) c.687T>A (p.Ser229=) c.378T>A (p.Ser126=) n.1793A>T c.1821T>A (p.Ser607=) c.1812T>A (p.Ser604=) c.1839T>A (p.Ser613=) c.1836T>A (p.Ser612=) c.1818T>A (p.Ser606=) c.1761T>A (p.Ser587=) c.1695T>A (p.Ser565=) c.261T>A (p.Ser87=) c.1674T>A (p.Ser558=) c.1809T>A (p.Ser603=) c.1815T>A (p.Ser605=) c.1731T>A (p.Ser577=) c.1659T>A (p.Ser553=) c.1593T>A (p.Ser531=) c.954T>A (p.Ser318=) c.1572T>A (p.Ser524=) | |
9 | g.137776656T>C | CA467874050 | EHMT1 | c.1830T>C (p.Ser610=) c.1716T>C (p.Ser572=) c.1737T>C (p.Ser579=) c.1870T>C (n.1870T>C) c.1457T>C c.999T>C (p.Ser333=) c.*1565T>C (n.*1565T>C) c.687T>C (p.Ser229=) c.378T>C (p.Ser126=) n.1793A>G c.1821T>C (p.Ser607=) c.1812T>C (p.Ser604=) c.1839T>C (p.Ser613=) c.1836T>C (p.Ser612=) c.1818T>C (p.Ser606=) c.1761T>C (p.Ser587=) c.1695T>C (p.Ser565=) c.261T>C (p.Ser87=) c.1674T>C (p.Ser558=) c.1809T>C (p.Ser603=) c.1815T>C (p.Ser605=) c.1731T>C (p.Ser577=) c.1659T>C (p.Ser553=) c.1593T>C (p.Ser531=) c.954T>C (p.Ser318=) c.1572T>C (p.Ser524=) | |
9 | g.137776656T>G | CA467874051 | EHMT1 | c.1830T>G (p.Ser610=) c.1716T>G (p.Ser572=) c.1737T>G (p.Ser579=) c.1870T>G (n.1870T>G) c.1457T>G c.999T>G (p.Ser333=) c.*1565T>G (n.*1565T>G) c.687T>G (p.Ser229=) c.378T>G (p.Ser126=) n.1793A>C c.1821T>G (p.Ser607=) c.1812T>G (p.Ser604=) c.1839T>G (p.Ser613=) c.1836T>G (p.Ser612=) c.1818T>G (p.Ser606=) c.1761T>G (p.Ser587=) c.1695T>G (p.Ser565=) c.261T>G (p.Ser87=) c.1674T>G (p.Ser558=) c.1809T>G (p.Ser603=) c.1815T>G (p.Ser605=) c.1731T>G (p.Ser577=) c.1659T>G (p.Ser553=) c.1593T>G (p.Ser531=) c.954T>G (p.Ser318=) c.1572T>G (p.Ser524=) | |
9 | g.137776657C>A | CA375775795 | EHMT1 | c.1831C>A (p.His611Asn) c.1717C>A (p.His573Asn) c.1738C>A (p.His580Asn) c.1871C>A (n.1871C>A) c.1458C>A c.1000C>A (p.His334Asn) c.*1566C>A (n.*1566C>A) c.688C>A (p.His230Asn) c.379C>A (p.His127Asn) n.1792G>T c.1822C>A (p.His608Asn) c.1813C>A (p.His605Asn) c.1840C>A (p.His614Asn) c.1837C>A (p.His613Asn) c.1819C>A (p.His607Asn) c.1762C>A (p.His588Asn) c.1696C>A (p.His566Asn) c.262C>A (p.His88Asn) c.1675C>A (p.His559Asn) c.1810C>A (p.His604Asn) c.1816C>A (p.His606Asn) c.1732C>A (p.His578Asn) c.1660C>A (p.His554Asn) c.1594C>A (p.His532Asn) c.955C>A (p.His319Asn) c.1573C>A (p.His525Asn) | |
9 | g.137776657C>G | CA375775794 | EHMT1 | c.1831C>G (p.His611Asp) c.1717C>G (p.His573Asp) c.1738C>G (p.His580Asp) c.1871C>G (n.1871C>G) c.1458C>G c.1000C>G (p.His334Asp) c.*1566C>G (n.*1566C>G) c.688C>G (p.His230Asp) c.379C>G (p.His127Asp) n.1792G>C c.1822C>G (p.His608Asp) c.1813C>G (p.His605Asp) c.1840C>G (p.His614Asp) c.1837C>G (p.His613Asp) c.1819C>G (p.His607Asp) c.1762C>G (p.His588Asp) c.1696C>G (p.His566Asp) c.262C>G (p.His88Asp) c.1675C>G (p.His559Asp) c.1810C>G (p.His604Asp) c.1816C>G (p.His606Asp) c.1732C>G (p.His578Asp) c.1660C>G (p.His554Asp) c.1594C>G (p.His532Asp) c.955C>G (p.His319Asp) c.1573C>G (p.His525Asp) | |
9 | g.137776657C>T | CA375775785 | EHMT1 | c.1831C>T (p.His611Tyr) c.1717C>T (p.His573Tyr) c.1738C>T (p.His580Tyr) c.1871C>T (n.1871C>T) c.1458C>T c.1000C>T (p.His334Tyr) c.*1566C>T (n.*1566C>T) c.688C>T (p.His230Tyr) c.379C>T (p.His127Tyr) n.1792G>A c.1822C>T (p.His608Tyr) c.1813C>T (p.His605Tyr) c.1840C>T (p.His614Tyr) c.1837C>T (p.His613Tyr) c.1819C>T (p.His607Tyr) c.1762C>T (p.His588Tyr) c.1696C>T (p.His566Tyr) c.262C>T (p.His88Tyr) c.1675C>T (p.His559Tyr) c.1810C>T (p.His604Tyr) c.1816C>T (p.His606Tyr) c.1732C>T (p.His578Tyr) c.1660C>T (p.His554Tyr) c.1594C>T (p.His532Tyr) c.955C>T (p.His319Tyr) c.1573C>T (p.His525Tyr) | |
9 | g.137776658A>C | CA375775798 | EHMT1 | c.1832A>C (p.His611Pro) c.1718A>C (p.His573Pro) c.1739A>C (p.His580Pro) c.1872A>C (n.1872A>C) c.1459A>C c.1001A>C (p.His334Pro) c.*1567A>C (n.*1567A>C) c.689A>C (p.His230Pro) c.380A>C (p.His127Pro) n.1791T>G c.1823A>C (p.His608Pro) c.1814A>C (p.His605Pro) c.1841A>C (p.His614Pro) c.1838A>C (p.His613Pro) c.1820A>C (p.His607Pro) c.1763A>C (p.His588Pro) c.1697A>C (p.His566Pro) c.263A>C (p.His88Pro) c.1676A>C (p.His559Pro) c.1811A>C (p.His604Pro) c.1817A>C (p.His606Pro) c.1733A>C (p.His578Pro) c.1661A>C (p.His554Pro) c.1595A>C (p.His532Pro) c.956A>C (p.His319Pro) c.1574A>C (p.His525Pro) | |
9 | g.137776658A>G | CA375775805 | EHMT1 | c.1832A>G (p.His611Arg) c.1718A>G (p.His573Arg) c.1739A>G (p.His580Arg) c.1872A>G (n.1872A>G) c.1459A>G c.1001A>G (p.His334Arg) c.*1567A>G (n.*1567A>G) c.689A>G (p.His230Arg) c.380A>G (p.His127Arg) n.1791T>C c.1823A>G (p.His608Arg) c.1814A>G (p.His605Arg) c.1841A>G (p.His614Arg) c.1838A>G (p.His613Arg) c.1820A>G (p.His607Arg) c.1763A>G (p.His588Arg) c.1697A>G (p.His566Arg) c.263A>G (p.His88Arg) c.1676A>G (p.His559Arg) c.1811A>G (p.His604Arg) c.1817A>G (p.His606Arg) c.1733A>G (p.His578Arg) c.1661A>G (p.His554Arg) c.1595A>G (p.His532Arg) c.956A>G (p.His319Arg) c.1574A>G (p.His525Arg) | |
9 | g.137776658A>T | CA375775807 | EHMT1 | c.1832A>T (p.His611Leu) c.1718A>T (p.His573Leu) c.1739A>T (p.His580Leu) c.1872A>T (n.1872A>T) c.1459A>T c.1001A>T (p.His334Leu) c.*1567A>T (n.*1567A>T) c.689A>T (p.His230Leu) c.380A>T (p.His127Leu) n.1791T>A c.1823A>T (p.His608Leu) c.1814A>T (p.His605Leu) c.1841A>T (p.His614Leu) c.1838A>T (p.His613Leu) c.1820A>T (p.His607Leu) c.1763A>T (p.His588Leu) c.1697A>T (p.His566Leu) c.263A>T (p.His88Leu) c.1676A>T (p.His559Leu) c.1811A>T (p.His604Leu) c.1817A>T (p.His606Leu) c.1733A>T (p.His578Leu) c.1661A>T (p.His554Leu) c.1595A>T (p.His532Leu) c.956A>T (p.His319Leu) c.1574A>T (p.His525Leu) | |
9 | g.137776659C>A | CA375775811 | EHMT1 | c.1833C>A (p.His611Gln) c.1719C>A (p.His573Gln) c.1740C>A (p.His580Gln) c.1873C>A (n.1873C>A) c.1460C>A c.1002C>A (p.His334Gln) c.*1568C>A (n.*1568C>A) c.690C>A (p.His230Gln) c.381C>A (p.His127Gln) n.1790G>T c.1824C>A (p.His608Gln) c.1815C>A (p.His605Gln) c.1842C>A (p.His614Gln) c.1839C>A (p.His613Gln) c.1821C>A (p.His607Gln) c.1764C>A (p.His588Gln) c.1698C>A (p.His566Gln) c.264C>A (p.His88Gln) c.1677C>A (p.His559Gln) c.1812C>A (p.His604Gln) c.1818C>A (p.His606Gln) c.1734C>A (p.His578Gln) c.1662C>A (p.His554Gln) c.1596C>A (p.His532Gln) c.957C>A (p.His319Gln) c.1575C>A (p.His525Gln) | |
9 | g.137776659C>G | CA375775812 | EHMT1 | c.1833C>G (p.His611Gln) c.1719C>G (p.His573Gln) c.1740C>G (p.His580Gln) c.1873C>G (n.1873C>G) c.1460C>G c.1002C>G (p.His334Gln) c.*1568C>G (n.*1568C>G) c.690C>G (p.His230Gln) c.381C>G (p.His127Gln) n.1790G>C c.1824C>G (p.His608Gln) c.1815C>G (p.His605Gln) c.1842C>G (p.His614Gln) c.1839C>G (p.His613Gln) c.1821C>G (p.His607Gln) c.1764C>G (p.His588Gln) c.1698C>G (p.His566Gln) c.264C>G (p.His88Gln) c.1677C>G (p.His559Gln) c.1812C>G (p.His604Gln) c.1818C>G (p.His606Gln) c.1734C>G (p.His578Gln) c.1662C>G (p.His554Gln) c.1596C>G (p.His532Gln) c.957C>G (p.His319Gln) c.1575C>G (p.His525Gln) | |
9 | g.137776659C>T | CA467874052 | EHMT1 | c.1833C>T (p.His611=) c.1719C>T (p.His573=) c.1740C>T (p.His580=) c.1873C>T (n.1873C>T) c.1460C>T c.1002C>T (p.His334=) c.*1568C>T (n.*1568C>T) c.690C>T (p.His230=) c.381C>T (p.His127=) n.1790G>A c.1824C>T (p.His608=) c.1815C>T (p.His605=) c.1842C>T (p.His614=) c.1839C>T (p.His613=) c.1821C>T (p.His607=) c.1764C>T (p.His588=) c.1698C>T (p.His566=) c.264C>T (p.His88=) c.1677C>T (p.His559=) c.1812C>T (p.His604=) c.1818C>T (p.His606=) c.1734C>T (p.His578=) c.1662C>T (p.His554=) c.1596C>T (p.His532=) c.957C>T (p.His319=) c.1575C>T (p.His525=) | |
9 | g.137776660C>A | CA375775814 | EHMT1 | c.1834C>A (p.Arg612Ser) c.1720C>A (p.Arg574Ser) c.1741C>A (p.Arg581Ser) c.1874C>A (n.1874C>A) c.1461C>A c.1003C>A (p.Arg335Ser) c.*1569C>A (n.*1569C>A) c.691C>A (p.Arg231Ser) c.382C>A (p.Arg128Ser) n.1789G>T c.1825C>A (p.Arg609Ser) c.1816C>A (p.Arg606Ser) c.1843C>A (p.Arg615Ser) c.1840C>A (p.Arg614Ser) c.1822C>A (p.Arg608Ser) c.1765C>A (p.Arg589Ser) c.1699C>A (p.Arg567Ser) c.265C>A (p.Arg89Ser) c.1678C>A (p.Arg560Ser) c.1813C>A (p.Arg605Ser) c.1819C>A (p.Arg607Ser) c.1735C>A (p.Arg579Ser) c.1663C>A (p.Arg555Ser) c.1597C>A (p.Arg533Ser) c.958C>A (p.Arg320Ser) c.1576C>A (p.Arg526Ser) | |
9 | g.137776660C= | CA1884666476 | EHMT1 | c.1834C= (p.Arg612=) c.1720C= (p.Arg574=) c.1741C= (p.Arg581=) c.1874C= (n.1874C=) c.1461C= c.1003C= (p.Arg335=) c.*1569C= (n.*1569C=) c.691C= (p.Arg231=) c.382C= (p.Arg128=) n.1789G= c.1825C= (p.Arg609=) c.1816C= (p.Arg606=) c.1843C= (p.Arg615=) c.1840C= (p.Arg614=) c.1822C= (p.Arg608=) c.1765C= (p.Arg589=) c.1699C= (p.Arg567=) c.265C= (p.Arg89=) c.1678C= (p.Arg560=) c.1813C= (p.Arg605=) c.1819C= (p.Arg607=) c.1735C= (p.Arg579=) c.1663C= (p.Arg555=) c.1597C= (p.Arg533=) c.958C= (p.Arg320=) c.1576C= (p.Arg526=) | |
9 | g.137776660C>G | CA375775815 | EHMT1 | c.1834C>G (p.Arg612Gly) c.1720C>G (p.Arg574Gly) c.1741C>G (p.Arg581Gly) c.1874C>G (n.1874C>G) c.1461C>G c.1003C>G (p.Arg335Gly) c.*1569C>G (n.*1569C>G) c.691C>G (p.Arg231Gly) c.382C>G (p.Arg128Gly) n.1789G>C c.1825C>G (p.Arg609Gly) c.1816C>G (p.Arg606Gly) c.1843C>G (p.Arg615Gly) c.1840C>G (p.Arg614Gly) c.1822C>G (p.Arg608Gly) c.1765C>G (p.Arg589Gly) c.1699C>G (p.Arg567Gly) c.265C>G (p.Arg89Gly) c.1678C>G (p.Arg560Gly) c.1813C>G (p.Arg605Gly) c.1819C>G (p.Arg607Gly) c.1735C>G (p.Arg579Gly) c.1663C>G (p.Arg555Gly) c.1597C>G (p.Arg533Gly) c.958C>G (p.Arg320Gly) c.1576C>G (p.Arg526Gly) | |
9 | g.137776660C>T | CA375775816 | EHMT1 | c.1834C>T (p.Arg612Cys) c.1720C>T (p.Arg574Cys) c.1741C>T (p.Arg581Cys) c.1874C>T (n.1874C>T) c.1461C>T c.1003C>T (p.Arg335Cys) c.*1569C>T (n.*1569C>T) c.691C>T (p.Arg231Cys) c.382C>T (p.Arg128Cys) n.1789G>A c.1825C>T (p.Arg609Cys) c.1816C>T (p.Arg606Cys) c.1843C>T (p.Arg615Cys) c.1840C>T (p.Arg614Cys) c.1822C>T (p.Arg608Cys) c.1765C>T (p.Arg589Cys) c.1699C>T (p.Arg567Cys) c.265C>T (p.Arg89Cys) c.1678C>T (p.Arg560Cys) c.1813C>T (p.Arg605Cys) c.1819C>T (p.Arg607Cys) c.1735C>T (p.Arg579Cys) c.1663C>T (p.Arg555Cys) c.1597C>T (p.Arg533Cys) c.958C>T (p.Arg320Cys) c.1576C>T (p.Arg526Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.137776661G>A | CA5374746 | EHMT1 | c.1835G>A (p.Arg612His) c.1721G>A (p.Arg574His) c.1742G>A (p.Arg581His) c.1875G>A (n.1875G>A) c.1462G>A c.1004G>A (p.Arg335His) c.*1570G>A (n.*1570G>A) c.692G>A (p.Arg231His) c.383G>A (p.Arg128His) n.1788C>T c.1826G>A (p.Arg609His) c.1817G>A (p.Arg606His) c.1844G>A (p.Arg615His) c.1841G>A (p.Arg614His) c.1823G>A (p.Arg608His) c.1766G>A (p.Arg589His) c.1700G>A (p.Arg567His) c.266G>A (p.Arg89His) c.1679G>A (p.Arg560His) c.1814G>A (p.Arg605His) c.1820G>A (p.Arg607His) c.1736G>A (p.Arg579His) c.1664G>A (p.Arg555His) c.1598G>A (p.Arg533His) c.959G>A (p.Arg320His) c.1577G>A (p.Arg526His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137776661G>C | CA375775819 | EHMT1 | c.1835G>C (p.Arg612Pro) c.1721G>C (p.Arg574Pro) c.1742G>C (p.Arg581Pro) c.1875G>C (n.1875G>C) c.1462G>C c.1004G>C (p.Arg335Pro) c.*1570G>C (n.*1570G>C) c.692G>C (p.Arg231Pro) c.383G>C (p.Arg128Pro) n.1788C>G c.1826G>C (p.Arg609Pro) c.1817G>C (p.Arg606Pro) c.1844G>C (p.Arg615Pro) c.1841G>C (p.Arg614Pro) c.1823G>C (p.Arg608Pro) c.1766G>C (p.Arg589Pro) c.1700G>C (p.Arg567Pro) c.266G>C (p.Arg89Pro) c.1679G>C (p.Arg560Pro) c.1814G>C (p.Arg605Pro) c.1820G>C (p.Arg607Pro) c.1736G>C (p.Arg579Pro) c.1664G>C (p.Arg555Pro) c.1598G>C (p.Arg533Pro) c.959G>C (p.Arg320Pro) c.1577G>C (p.Arg526Pro) | |
9 | g.137776661G= | CA1884666477 | EHMT1 | c.1835G= (p.Arg612=) c.1721G= (p.Arg574=) c.1742G= (p.Arg581=) c.1875G= (n.1875G=) c.1462G= c.1004G= (p.Arg335=) c.*1570G= (n.*1570G=) c.692G= (p.Arg231=) c.383G= (p.Arg128=) n.1788C= c.1826G= (p.Arg609=) c.1817G= (p.Arg606=) c.1844G= (p.Arg615=) c.1841G= (p.Arg614=) c.1823G= (p.Arg608=) c.1766G= (p.Arg589=) c.1700G= (p.Arg567=) c.266G= (p.Arg89=) c.1679G= (p.Arg560=) c.1814G= (p.Arg605=) c.1820G= (p.Arg607=) c.1736G= (p.Arg579=) c.1664G= (p.Arg555=) c.1598G= (p.Arg533=) c.959G= (p.Arg320=) c.1577G= (p.Arg526=) | |
9 | g.137776661G>T | CA375775822 | EHMT1 | c.1835G>T (p.Arg612Leu) c.1721G>T (p.Arg574Leu) c.1742G>T (p.Arg581Leu) c.1875G>T (n.1875G>T) c.1462G>T c.1004G>T (p.Arg335Leu) c.*1570G>T (n.*1570G>T) c.692G>T (p.Arg231Leu) c.383G>T (p.Arg128Leu) n.1788C>A c.1826G>T (p.Arg609Leu) c.1817G>T (p.Arg606Leu) c.1844G>T (p.Arg615Leu) c.1841G>T (p.Arg614Leu) c.1823G>T (p.Arg608Leu) c.1766G>T (p.Arg589Leu) c.1700G>T (p.Arg567Leu) c.266G>T (p.Arg89Leu) c.1679G>T (p.Arg560Leu) c.1814G>T (p.Arg605Leu) c.1820G>T (p.Arg607Leu) c.1736G>T (p.Arg579Leu) c.1664G>T (p.Arg555Leu) c.1598G>T (p.Arg533Leu) c.959G>T (p.Arg320Leu) c.1577G>T (p.Arg526Leu) | |
9 | g.137776662T>A | CA467874053 | EHMT1 | c.1836T>A (p.Arg612=) c.1722T>A (p.Arg574=) c.1743T>A (p.Arg581=) c.1876T>A (n.1876T>A) c.1463T>A c.1005T>A (p.Arg335=) c.*1571T>A (n.*1571T>A) c.693T>A (p.Arg231=) c.384T>A (p.Arg128=) n.1787A>T c.1827T>A (p.Arg609=) c.1818T>A (p.Arg606=) c.1845T>A (p.Arg615=) c.1842T>A (p.Arg614=) c.1824T>A (p.Arg608=) c.1767T>A (p.Arg589=) c.1701T>A (p.Arg567=) c.267T>A (p.Arg89=) c.1680T>A (p.Arg560=) c.1815T>A (p.Arg605=) c.1821T>A (p.Arg607=) c.1737T>A (p.Arg579=) c.1665T>A (p.Arg555=) c.1599T>A (p.Arg533=) c.960T>A (p.Arg320=) c.1578T>A (p.Arg526=) | |
9 | g.137776662T>C | CA467874054 | EHMT1 | c.1836T>C (p.Arg612=) c.1722T>C (p.Arg574=) c.1743T>C (p.Arg581=) c.1876T>C (n.1876T>C) c.1463T>C c.1005T>C (p.Arg335=) c.*1571T>C (n.*1571T>C) c.693T>C (p.Arg231=) c.384T>C (p.Arg128=) n.1787A>G c.1827T>C (p.Arg609=) c.1818T>C (p.Arg606=) c.1845T>C (p.Arg615=) c.1842T>C (p.Arg614=) c.1824T>C (p.Arg608=) c.1767T>C (p.Arg589=) c.1701T>C (p.Arg567=) c.267T>C (p.Arg89=) c.1680T>C (p.Arg560=) c.1815T>C (p.Arg605=) c.1821T>C (p.Arg607=) c.1737T>C (p.Arg579=) c.1665T>C (p.Arg555=) c.1599T>C (p.Arg533=) c.960T>C (p.Arg320=) c.1578T>C (p.Arg526=) | |
9 | g.137776662T>G | CA467874055 | EHMT1 | c.1836T>G (p.Arg612=) c.1722T>G (p.Arg574=) c.1743T>G (p.Arg581=) c.1876T>G (n.1876T>G) c.1463T>G c.1005T>G (p.Arg335=) c.*1571T>G (n.*1571T>G) c.693T>G (p.Arg231=) c.384T>G (p.Arg128=) n.1787A>C c.1827T>G (p.Arg609=) c.1818T>G (p.Arg606=) c.1845T>G (p.Arg615=) c.1842T>G (p.Arg614=) c.1824T>G (p.Arg608=) c.1767T>G (p.Arg589=) c.1701T>G (p.Arg567=) c.267T>G (p.Arg89=) c.1680T>G (p.Arg560=) c.1815T>G (p.Arg605=) c.1821T>G (p.Arg607=) c.1737T>G (p.Arg579=) c.1665T>G (p.Arg555=) c.1599T>G (p.Arg533=) c.960T>G (p.Arg320=) c.1578T>G (p.Arg526=) | |
9 | g.137776663T>A | CA375775835 | EHMT1 | c.1837T>A (p.Phe613Ile) c.1723T>A (p.Phe575Ile) c.1744T>A (p.Phe582Ile) c.1877T>A (n.1877T>A) c.1464T>A c.1006T>A (p.Phe336Ile) c.*1572T>A (n.*1572T>A) c.694T>A (p.Phe232Ile) c.385T>A (p.Phe129Ile) n.1786A>T c.1828T>A (p.Phe610Ile) c.1819T>A (p.Phe607Ile) c.1846T>A (p.Phe616Ile) c.1843T>A (p.Phe615Ile) c.1825T>A (p.Phe609Ile) c.1768T>A (p.Phe590Ile) c.1702T>A (p.Phe568Ile) c.268T>A (p.Phe90Ile) c.1681T>A (p.Phe561Ile) c.1816T>A (p.Phe606Ile) c.1822T>A (p.Phe608Ile) c.1738T>A (p.Phe580Ile) c.1666T>A (p.Phe556Ile) c.1600T>A (p.Phe534Ile) c.961T>A (p.Phe321Ile) c.1579T>A (p.Phe527Ile) | |
9 | g.137776663T>C | CA375775825 | EHMT1 | c.1837T>C (p.Phe613Leu) c.1723T>C (p.Phe575Leu) c.1744T>C (p.Phe582Leu) c.1877T>C (n.1877T>C) c.1464T>C c.1006T>C (p.Phe336Leu) c.*1572T>C (n.*1572T>C) c.694T>C (p.Phe232Leu) c.385T>C (p.Phe129Leu) n.1786A>G c.1828T>C (p.Phe610Leu) c.1819T>C (p.Phe607Leu) c.1846T>C (p.Phe616Leu) c.1843T>C (p.Phe615Leu) c.1825T>C (p.Phe609Leu) c.1768T>C (p.Phe590Leu) c.1702T>C (p.Phe568Leu) c.268T>C (p.Phe90Leu) c.1681T>C (p.Phe561Leu) c.1816T>C (p.Phe606Leu) c.1822T>C (p.Phe608Leu) c.1738T>C (p.Phe580Leu) c.1666T>C (p.Phe556Leu) c.1600T>C (p.Phe534Leu) c.961T>C (p.Phe321Leu) c.1579T>C (p.Phe527Leu) | |
9 | g.137776663T>G | CA375775823 | EHMT1 | c.1837T>G (p.Phe613Val) c.1723T>G (p.Phe575Val) c.1744T>G (p.Phe582Val) c.1877T>G (n.1877T>G) c.1464T>G c.1006T>G (p.Phe336Val) c.*1572T>G (n.*1572T>G) c.694T>G (p.Phe232Val) c.385T>G (p.Phe129Val) n.1786A>C c.1828T>G (p.Phe610Val) c.1819T>G (p.Phe607Val) c.1846T>G (p.Phe616Val) c.1843T>G (p.Phe615Val) c.1825T>G (p.Phe609Val) c.1768T>G (p.Phe590Val) c.1702T>G (p.Phe568Val) c.268T>G (p.Phe90Val) c.1681T>G (p.Phe561Val) c.1816T>G (p.Phe606Val) c.1822T>G (p.Phe608Val) c.1738T>G (p.Phe580Val) c.1666T>G (p.Phe556Val) c.1600T>G (p.Phe534Val) c.961T>G (p.Phe321Val) c.1579T>G (p.Phe527Val) | |
9 | g.137776664T>A | CA375775838 | EHMT1 | c.1838T>A (p.Phe613Tyr) c.1724T>A (p.Phe575Tyr) c.1745T>A (p.Phe582Tyr) c.1878T>A (n.1878T>A) c.1465T>A c.1007T>A (p.Phe336Tyr) c.*1573T>A (n.*1573T>A) c.695T>A (p.Phe232Tyr) c.386T>A (p.Phe129Tyr) n.1785A>T c.1829T>A (p.Phe610Tyr) c.1820T>A (p.Phe607Tyr) c.1847T>A (p.Phe616Tyr) c.1844T>A (p.Phe615Tyr) c.1826T>A (p.Phe609Tyr) c.1769T>A (p.Phe590Tyr) c.1703T>A (p.Phe568Tyr) c.269T>A (p.Phe90Tyr) c.1682T>A (p.Phe561Tyr) c.1817T>A (p.Phe606Tyr) c.1823T>A (p.Phe608Tyr) c.1739T>A (p.Phe580Tyr) c.1667T>A (p.Phe556Tyr) c.1601T>A (p.Phe534Tyr) c.962T>A (p.Phe321Tyr) c.1580T>A (p.Phe527Tyr) | |
9 | g.137776664T>C | CA375775840 | EHMT1 | c.1838T>C (p.Phe613Ser) c.1724T>C (p.Phe575Ser) c.1745T>C (p.Phe582Ser) c.1878T>C (n.1878T>C) c.1465T>C c.1007T>C (p.Phe336Ser) c.*1573T>C (n.*1573T>C) c.695T>C (p.Phe232Ser) c.386T>C (p.Phe129Ser) n.1785A>G c.1829T>C (p.Phe610Ser) c.1820T>C (p.Phe607Ser) c.1847T>C (p.Phe616Ser) c.1844T>C (p.Phe615Ser) c.1826T>C (p.Phe609Ser) c.1769T>C (p.Phe590Ser) c.1703T>C (p.Phe568Ser) c.269T>C (p.Phe90Ser) c.1682T>C (p.Phe561Ser) c.1817T>C (p.Phe606Ser) c.1823T>C (p.Phe608Ser) c.1739T>C (p.Phe580Ser) c.1667T>C (p.Phe556Ser) c.1601T>C (p.Phe534Ser) c.962T>C (p.Phe321Ser) c.1580T>C (p.Phe527Ser) | |
9 | g.137776664T>G | CA375775845 | EHMT1 | c.1838T>G (p.Phe613Cys) c.1724T>G (p.Phe575Cys) c.1745T>G (p.Phe582Cys) c.1878T>G (n.1878T>G) c.1465T>G c.1007T>G (p.Phe336Cys) c.*1573T>G (n.*1573T>G) c.695T>G (p.Phe232Cys) c.386T>G (p.Phe129Cys) n.1785A>C c.1829T>G (p.Phe610Cys) c.1820T>G (p.Phe607Cys) c.1847T>G (p.Phe616Cys) c.1844T>G (p.Phe615Cys) c.1826T>G (p.Phe609Cys) c.1769T>G (p.Phe590Cys) c.1703T>G (p.Phe568Cys) c.269T>G (p.Phe90Cys) c.1682T>G (p.Phe561Cys) c.1817T>G (p.Phe606Cys) c.1823T>G (p.Phe608Cys) c.1739T>G (p.Phe580Cys) c.1667T>G (p.Phe556Cys) c.1601T>G (p.Phe534Cys) c.962T>G (p.Phe321Cys) c.1580T>G (p.Phe527Cys) | |
9 | g.137776665C>A | CA375775847 | EHMT1 | c.1839C>A (p.Phe613Leu) c.1725C>A (p.Phe575Leu) c.1746C>A (p.Phe582Leu) c.1879C>A (n.1879C>A) c.1466C>A c.1008C>A (p.Phe336Leu) c.*1574C>A (n.*1574C>A) c.696C>A (p.Phe232Leu) c.387C>A (p.Phe129Leu) n.1784G>T c.1830C>A (p.Phe610Leu) c.1821C>A (p.Phe607Leu) c.1848C>A (p.Phe616Leu) c.1845C>A (p.Phe615Leu) c.1827C>A (p.Phe609Leu) c.1770C>A (p.Phe590Leu) c.1704C>A (p.Phe568Leu) c.270C>A (p.Phe90Leu) c.1683C>A (p.Phe561Leu) c.1818C>A (p.Phe606Leu) c.1824C>A (p.Phe608Leu) c.1740C>A (p.Phe580Leu) c.1668C>A (p.Phe556Leu) c.1602C>A (p.Phe534Leu) c.963C>A (p.Phe321Leu) c.1581C>A (p.Phe527Leu) | |
9 | g.137776665C>G | CA375775850 | EHMT1 | c.1839C>G (p.Phe613Leu) c.1725C>G (p.Phe575Leu) c.1746C>G (p.Phe582Leu) c.1879C>G (n.1879C>G) c.1466C>G c.1008C>G (p.Phe336Leu) c.*1574C>G (n.*1574C>G) c.696C>G (p.Phe232Leu) c.387C>G (p.Phe129Leu) n.1784G>C c.1830C>G (p.Phe610Leu) c.1821C>G (p.Phe607Leu) c.1848C>G (p.Phe616Leu) c.1845C>G (p.Phe615Leu) c.1827C>G (p.Phe609Leu) c.1770C>G (p.Phe590Leu) c.1704C>G (p.Phe568Leu) c.270C>G (p.Phe90Leu) c.1683C>G (p.Phe561Leu) c.1818C>G (p.Phe606Leu) c.1824C>G (p.Phe608Leu) c.1740C>G (p.Phe580Leu) c.1668C>G (p.Phe556Leu) c.1602C>G (p.Phe534Leu) c.963C>G (p.Phe321Leu) c.1581C>G (p.Phe527Leu) | |
9 | g.137776665C>T | CA467874056 | EHMT1 | c.1839C>T (p.Phe613=) c.1725C>T (p.Phe575=) c.1746C>T (p.Phe582=) c.1879C>T (n.1879C>T) c.1466C>T c.1008C>T (p.Phe336=) c.*1574C>T (n.*1574C>T) c.696C>T (p.Phe232=) c.387C>T (p.Phe129=) n.1784G>A c.1830C>T (p.Phe610=) c.1821C>T (p.Phe607=) c.1848C>T (p.Phe616=) c.1845C>T (p.Phe615=) c.1827C>T (p.Phe609=) c.1770C>T (p.Phe590=) c.1704C>T (p.Phe568=) c.270C>T (p.Phe90=) c.1683C>T (p.Phe561=) c.1818C>T (p.Phe606=) c.1824C>T (p.Phe608=) c.1740C>T (p.Phe580=) c.1668C>T (p.Phe556=) c.1602C>T (p.Phe534=) c.963C>T (p.Phe321=) c.1581C>T (p.Phe527=) | |
9 | g.137776666C>A | CA375775854 | EHMT1 | c.1840C>A (p.His614Asn) c.1726C>A (p.His576Asn) c.1747C>A (p.His583Asn) c.1880C>A (n.1880C>A) c.1467C>A c.1009C>A (p.His337Asn) c.*1575C>A (n.*1575C>A) c.697C>A (p.His233Asn) c.388C>A (p.His130Asn) n.1783G>T c.1831C>A (p.His611Asn) c.1822C>A (p.His608Asn) c.1849C>A (p.His617Asn) c.1846C>A (p.His616Asn) c.1828C>A (p.His610Asn) c.1771C>A (p.His591Asn) c.1705C>A (p.His569Asn) c.271C>A (p.His91Asn) c.1684C>A (p.His562Asn) c.1819C>A (p.His607Asn) c.1825C>A (p.His609Asn) c.1741C>A (p.His581Asn) c.1669C>A (p.His557Asn) c.1603C>A (p.His535Asn) c.964C>A (p.His322Asn) c.1582C>A (p.His528Asn) | |
9 | g.137776666C>G | CA375775859 | EHMT1 | c.1840C>G (p.His614Asp) c.1726C>G (p.His576Asp) c.1747C>G (p.His583Asp) c.1880C>G (n.1880C>G) c.1467C>G c.1009C>G (p.His337Asp) c.*1575C>G (n.*1575C>G) c.697C>G (p.His233Asp) c.388C>G (p.His130Asp) n.1783G>C c.1831C>G (p.His611Asp) c.1822C>G (p.His608Asp) c.1849C>G (p.His617Asp) c.1846C>G (p.His616Asp) c.1828C>G (p.His610Asp) c.1771C>G (p.His591Asp) c.1705C>G (p.His569Asp) c.271C>G (p.His91Asp) c.1684C>G (p.His562Asp) c.1819C>G (p.His607Asp) c.1825C>G (p.His609Asp) c.1741C>G (p.His581Asp) c.1669C>G (p.His557Asp) c.1603C>G (p.His535Asp) c.964C>G (p.His322Asp) c.1582C>G (p.His528Asp) | |
9 | g.137776666C>T | CA375775862 | EHMT1 | c.1840C>T (p.His614Tyr) c.1726C>T (p.His576Tyr) c.1747C>T (p.His583Tyr) c.1880C>T (n.1880C>T) c.1467C>T c.1009C>T (p.His337Tyr) c.*1575C>T (n.*1575C>T) c.697C>T (p.His233Tyr) c.388C>T (p.His130Tyr) n.1783G>A c.1831C>T (p.His611Tyr) c.1822C>T (p.His608Tyr) c.1849C>T (p.His617Tyr) c.1846C>T (p.His616Tyr) c.1828C>T (p.His610Tyr) c.1771C>T (p.His591Tyr) c.1705C>T (p.His569Tyr) c.271C>T (p.His91Tyr) c.1684C>T (p.His562Tyr) c.1819C>T (p.His607Tyr) c.1825C>T (p.His609Tyr) c.1741C>T (p.His581Tyr) c.1669C>T (p.His557Tyr) c.1603C>T (p.His535Tyr) c.964C>T (p.His322Tyr) c.1582C>T (p.His528Tyr) | gnomAD v4 |
9 | g.137776667A>C | CA375775863 | EHMT1 | c.1841A>C (p.His614Pro) c.1727A>C (p.His576Pro) c.1748A>C (p.His583Pro) c.1881A>C (n.1881A>C) c.1468A>C c.1010A>C (p.His337Pro) c.*1576A>C (n.*1576A>C) c.698A>C (p.His233Pro) c.389A>C (p.His130Pro) n.1782T>G c.1832A>C (p.His611Pro) c.1823A>C (p.His608Pro) c.1850A>C (p.His617Pro) c.1847A>C (p.His616Pro) c.1829A>C (p.His610Pro) c.1772A>C (p.His591Pro) c.1706A>C (p.His569Pro) c.272A>C (p.His91Pro) c.1685A>C (p.His562Pro) c.1820A>C (p.His607Pro) c.1826A>C (p.His609Pro) c.1742A>C (p.His581Pro) c.1670A>C (p.His557Pro) c.1604A>C (p.His535Pro) c.965A>C (p.His322Pro) c.1583A>C (p.His528Pro) | |
9 | g.137776667A>G | CA375775864 | EHMT1 | c.1841A>G (p.His614Arg) c.1727A>G (p.His576Arg) c.1748A>G (p.His583Arg) c.1881A>G (n.1881A>G) c.1468A>G c.1010A>G (p.His337Arg) c.*1576A>G (n.*1576A>G) c.698A>G (p.His233Arg) c.389A>G (p.His130Arg) n.1782T>C c.1832A>G (p.His611Arg) c.1823A>G (p.His608Arg) c.1850A>G (p.His617Arg) c.1847A>G (p.His616Arg) c.1829A>G (p.His610Arg) c.1772A>G (p.His591Arg) c.1706A>G (p.His569Arg) c.272A>G (p.His91Arg) c.1685A>G (p.His562Arg) c.1820A>G (p.His607Arg) c.1826A>G (p.His609Arg) c.1742A>G (p.His581Arg) c.1670A>G (p.His557Arg) c.1604A>G (p.His535Arg) c.965A>G (p.His322Arg) c.1583A>G (p.His528Arg) | |
9 | g.137776667A>T | CA375775867 | EHMT1 | c.1841A>T (p.His614Leu) c.1727A>T (p.His576Leu) c.1748A>T (p.His583Leu) c.1881A>T (n.1881A>T) c.1468A>T c.1010A>T (p.His337Leu) c.*1576A>T (n.*1576A>T) c.698A>T (p.His233Leu) c.389A>T (p.His130Leu) n.1782T>A c.1832A>T (p.His611Leu) c.1823A>T (p.His608Leu) c.1850A>T (p.His617Leu) c.1847A>T (p.His616Leu) c.1829A>T (p.His610Leu) c.1772A>T (p.His591Leu) c.1706A>T (p.His569Leu) c.272A>T (p.His91Leu) c.1685A>T (p.His562Leu) c.1820A>T (p.His607Leu) c.1826A>T (p.His609Leu) c.1742A>T (p.His581Leu) c.1670A>T (p.His557Leu) c.1604A>T (p.His535Leu) c.965A>T (p.His322Leu) c.1583A>T (p.His528Leu) | |
9 | g.137776668C>A | CA375775870 | EHMT1 | c.1842C>A (p.His614Gln) c.1728C>A (p.His576Gln) c.1749C>A (p.His583Gln) c.1882C>A (n.1882C>A) c.1469C>A c.1011C>A (p.His337Gln) c.*1577C>A (n.*1577C>A) c.699C>A (p.His233Gln) c.390C>A (p.His130Gln) n.1781G>T c.1833C>A (p.His611Gln) c.1824C>A (p.His608Gln) c.1851C>A (p.His617Gln) c.1848C>A (p.His616Gln) c.1830C>A (p.His610Gln) c.1773C>A (p.His591Gln) c.1707C>A (p.His569Gln) c.273C>A (p.His91Gln) c.1686C>A (p.His562Gln) c.1821C>A (p.His607Gln) c.1827C>A (p.His609Gln) c.1743C>A (p.His581Gln) c.1671C>A (p.His557Gln) c.1605C>A (p.His535Gln) c.966C>A (p.His322Gln) c.1584C>A (p.His528Gln) | |
9 | g.137776668C>G | CA375775871 | EHMT1 | c.1842C>G (p.His614Gln) c.1728C>G (p.His576Gln) c.1749C>G (p.His583Gln) c.1882C>G (n.1882C>G) c.1469C>G c.1011C>G (p.His337Gln) c.*1577C>G (n.*1577C>G) c.699C>G (p.His233Gln) c.390C>G (p.His130Gln) n.1781G>C c.1833C>G (p.His611Gln) c.1824C>G (p.His608Gln) c.1851C>G (p.His617Gln) c.1848C>G (p.His616Gln) c.1830C>G (p.His610Gln) c.1773C>G (p.His591Gln) c.1707C>G (p.His569Gln) c.273C>G (p.His91Gln) c.1686C>G (p.His562Gln) c.1821C>G (p.His607Gln) c.1827C>G (p.His609Gln) c.1743C>G (p.His581Gln) c.1671C>G (p.His557Gln) c.1605C>G (p.His535Gln) c.966C>G (p.His322Gln) c.1584C>G (p.His528Gln) | |
9 | g.137776668C>T | CA467874057 | EHMT1 | c.1842C>T (p.His614=) c.1728C>T (p.His576=) c.1749C>T (p.His583=) c.1882C>T (n.1882C>T) c.1469C>T c.1011C>T (p.His337=) c.*1577C>T (n.*1577C>T) c.699C>T (p.His233=) c.390C>T (p.His130=) n.1781G>A c.1833C>T (p.His611=) c.1824C>T (p.His608=) c.1851C>T (p.His617=) c.1848C>T (p.His616=) c.1830C>T (p.His610=) c.1773C>T (p.His591=) c.1707C>T (p.His569=) c.273C>T (p.His91=) c.1686C>T (p.His562=) c.1821C>T (p.His607=) c.1827C>T (p.His609=) c.1743C>T (p.His581=) c.1671C>T (p.His557=) c.1605C>T (p.His535=) c.966C>T (p.His322=) c.1584C>T (p.His528=) | |
9 | g.137776669A= | CA1884666478 | EHMT1 | c.1843A= (p.Lys615=) c.1729A= (p.Lys577=) c.1750A= (p.Lys584=) c.1883A= (n.1883A=) c.1470A= c.1012A= (p.Lys338=) c.*1578A= (n.*1578A=) c.700A= (p.Lys234=) c.391A= (p.Lys131=) n.1780T= c.1834A= (p.Lys612=) c.1825A= (p.Lys609=) c.1852A= (p.Lys618=) c.1849A= (p.Lys617=) c.1831A= (p.Lys611=) c.1774A= (p.Lys592=) c.1708A= (p.Lys570=) c.274A= (p.Lys92=) c.1687A= (p.Lys563=) c.1822A= (p.Lys608=) c.1828A= (p.Lys610=) c.1744A= (p.Lys582=) c.1672A= (p.Lys558=) c.1606A= (p.Lys536=) c.967A= (p.Lys323=) c.1585A= (p.Lys529=) | |
9 | g.137776669A>C | CA375775872 | EHMT1 | c.1843A>C (p.Lys615Gln) c.1729A>C (p.Lys577Gln) c.1750A>C (p.Lys584Gln) c.1883A>C (n.1883A>C) c.1470A>C c.1012A>C (p.Lys338Gln) c.*1578A>C (n.*1578A>C) c.700A>C (p.Lys234Gln) c.391A>C (p.Lys131Gln) n.1780T>G c.1834A>C (p.Lys612Gln) c.1825A>C (p.Lys609Gln) c.1852A>C (p.Lys618Gln) c.1849A>C (p.Lys617Gln) c.1831A>C (p.Lys611Gln) c.1774A>C (p.Lys592Gln) c.1708A>C (p.Lys570Gln) c.274A>C (p.Lys92Gln) c.1687A>C (p.Lys563Gln) c.1822A>C (p.Lys608Gln) c.1828A>C (p.Lys610Gln) c.1744A>C (p.Lys582Gln) c.1672A>C (p.Lys558Gln) c.1606A>C (p.Lys536Gln) c.967A>C (p.Lys323Gln) c.1585A>C (p.Lys529Gln) | |
9 | g.137776669A>G | CA375775878 | EHMT1 | c.1843A>G (p.Lys615Glu) c.1729A>G (p.Lys577Glu) c.1750A>G (p.Lys584Glu) c.1883A>G (n.1883A>G) c.1470A>G c.1012A>G (p.Lys338Glu) c.*1578A>G (n.*1578A>G) c.700A>G (p.Lys234Glu) c.391A>G (p.Lys131Glu) n.1780T>C c.1834A>G (p.Lys612Glu) c.1825A>G (p.Lys609Glu) c.1852A>G (p.Lys618Glu) c.1849A>G (p.Lys617Glu) c.1831A>G (p.Lys611Glu) c.1774A>G (p.Lys592Glu) c.1708A>G (p.Lys570Glu) c.274A>G (p.Lys92Glu) c.1687A>G (p.Lys563Glu) c.1822A>G (p.Lys608Glu) c.1828A>G (p.Lys610Glu) c.1744A>G (p.Lys582Glu) c.1672A>G (p.Lys558Glu) c.1606A>G (p.Lys536Glu) c.967A>G (p.Lys323Glu) c.1585A>G (p.Lys529Glu) | dbSNP |
9 | g.137776669A>T | CA375775874 | EHMT1 | c.1843A>T (p.Lys615Ter) c.1729A>T (p.Lys577Ter) c.1750A>T (p.Lys584Ter) c.1883A>T (n.1883A>T) c.1470A>T c.1012A>T (p.Lys338Ter) c.*1578A>T (n.*1578A>T) c.700A>T (p.Lys234Ter) c.391A>T (p.Lys131Ter) n.1780T>A c.1834A>T (p.Lys612Ter) c.1825A>T (p.Lys609Ter) c.1852A>T (p.Lys618Ter) c.1849A>T (p.Lys617Ter) c.1831A>T (p.Lys611Ter) c.1774A>T (p.Lys592Ter) c.1708A>T (p.Lys570Ter) c.274A>T (p.Lys92Ter) c.1687A>T (p.Lys563Ter) c.1822A>T (p.Lys608Ter) c.1828A>T (p.Lys610Ter) c.1744A>T (p.Lys582Ter) c.1672A>T (p.Lys558Ter) c.1606A>T (p.Lys536Ter) c.967A>T (p.Lys323Ter) c.1585A>T (p.Lys529Ter) | |
9 | g.137776670A= | CA1884666479 | EHMT1 | c.1844A= (p.Lys615=) c.1730A= (p.Lys577=) c.1751A= (p.Lys584=) c.1884A= (n.1884A=) c.1471A= c.1013A= (p.Lys338=) c.*1579A= (n.*1579A=) c.701A= (p.Lys234=) c.392A= (p.Lys131=) n.1779T= c.1835A= (p.Lys612=) c.1826A= (p.Lys609=) c.1853A= (p.Lys618=) c.1850A= (p.Lys617=) c.1832A= (p.Lys611=) c.1775A= (p.Lys592=) c.1709A= (p.Lys570=) c.275A= (p.Lys92=) c.1688A= (p.Lys563=) c.1823A= (p.Lys608=) c.1829A= (p.Lys610=) c.1745A= (p.Lys582=) c.1673A= (p.Lys558=) c.1607A= (p.Lys536=) c.968A= (p.Lys323=) c.1586A= (p.Lys529=) | |
9 | g.137776670A>C | CA375775894 | EHMT1 | c.1844A>C (p.Lys615Thr) c.1730A>C (p.Lys577Thr) c.1751A>C (p.Lys584Thr) c.1884A>C (n.1884A>C) c.1471A>C c.1013A>C (p.Lys338Thr) c.*1579A>C (n.*1579A>C) c.701A>C (p.Lys234Thr) c.392A>C (p.Lys131Thr) n.1779T>G c.1835A>C (p.Lys612Thr) c.1826A>C (p.Lys609Thr) c.1853A>C (p.Lys618Thr) c.1850A>C (p.Lys617Thr) c.1832A>C (p.Lys611Thr) c.1775A>C (p.Lys592Thr) c.1709A>C (p.Lys570Thr) c.275A>C (p.Lys92Thr) c.1688A>C (p.Lys563Thr) c.1823A>C (p.Lys608Thr) c.1829A>C (p.Lys610Thr) c.1745A>C (p.Lys582Thr) c.1673A>C (p.Lys558Thr) c.1607A>C (p.Lys536Thr) c.968A>C (p.Lys323Thr) c.1586A>C (p.Lys529Thr) | |
9 | g.137776670A>G | CA375775898 | EHMT1 | c.1844A>G (p.Lys615Arg) c.1730A>G (p.Lys577Arg) c.1751A>G (p.Lys584Arg) c.1884A>G (n.1884A>G) c.1471A>G c.1013A>G (p.Lys338Arg) c.*1579A>G (n.*1579A>G) c.701A>G (p.Lys234Arg) c.392A>G (p.Lys131Arg) n.1779T>C c.1835A>G (p.Lys612Arg) c.1826A>G (p.Lys609Arg) c.1853A>G (p.Lys618Arg) c.1850A>G (p.Lys617Arg) c.1832A>G (p.Lys611Arg) c.1775A>G (p.Lys592Arg) c.1709A>G (p.Lys570Arg) c.275A>G (p.Lys92Arg) c.1688A>G (p.Lys563Arg) c.1823A>G (p.Lys608Arg) c.1829A>G (p.Lys610Arg) c.1745A>G (p.Lys582Arg) c.1673A>G (p.Lys558Arg) c.1607A>G (p.Lys536Arg) c.968A>G (p.Lys323Arg) c.1586A>G (p.Lys529Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776670A>T | CA375775906 | EHMT1 | c.1844A>T (p.Lys615Ile) c.1730A>T (p.Lys577Ile) c.1751A>T (p.Lys584Ile) c.1884A>T (n.1884A>T) c.1471A>T c.1013A>T (p.Lys338Ile) c.*1579A>T (n.*1579A>T) c.701A>T (p.Lys234Ile) c.392A>T (p.Lys131Ile) n.1779T>A c.1835A>T (p.Lys612Ile) c.1826A>T (p.Lys609Ile) c.1853A>T (p.Lys618Ile) c.1850A>T (p.Lys617Ile) c.1832A>T (p.Lys611Ile) c.1775A>T (p.Lys592Ile) c.1709A>T (p.Lys570Ile) c.275A>T (p.Lys92Ile) c.1688A>T (p.Lys563Ile) c.1823A>T (p.Lys608Ile) c.1829A>T (p.Lys610Ile) c.1745A>T (p.Lys582Ile) c.1673A>T (p.Lys558Ile) c.1607A>T (p.Lys536Ile) c.968A>T (p.Lys323Ile) c.1586A>T (p.Lys529Ile) | |
9 | g.137776671A>C | CA375775909 | EHMT1 | c.1845A>C (p.Lys615Asn) c.1731A>C (p.Lys577Asn) c.1752A>C (p.Lys584Asn) c.1885A>C (n.1885A>C) c.1472A>C c.1014A>C (p.Lys338Asn) c.*1580A>C (n.*1580A>C) c.702A>C (p.Lys234Asn) c.393A>C (p.Lys131Asn) n.1778T>G c.1836A>C (p.Lys612Asn) c.1827A>C (p.Lys609Asn) c.1854A>C (p.Lys618Asn) c.1851A>C (p.Lys617Asn) c.1833A>C (p.Lys611Asn) c.1776A>C (p.Lys592Asn) c.1710A>C (p.Lys570Asn) c.276A>C (p.Lys92Asn) c.1689A>C (p.Lys563Asn) c.1824A>C (p.Lys608Asn) c.1830A>C (p.Lys610Asn) c.1746A>C (p.Lys582Asn) c.1674A>C (p.Lys558Asn) c.1608A>C (p.Lys536Asn) c.969A>C (p.Lys323Asn) c.1587A>C (p.Lys529Asn) | |
9 | g.137776671A>G | CA467874058 | EHMT1 | c.1845A>G (p.Lys615=) c.1731A>G (p.Lys577=) c.1752A>G (p.Lys584=) c.1885A>G (n.1885A>G) c.1472A>G c.1014A>G (p.Lys338=) c.*1580A>G (n.*1580A>G) c.702A>G (p.Lys234=) c.393A>G (p.Lys131=) n.1778T>C c.1836A>G (p.Lys612=) c.1827A>G (p.Lys609=) c.1854A>G (p.Lys618=) c.1851A>G (p.Lys617=) c.1833A>G (p.Lys611=) c.1776A>G (p.Lys592=) c.1710A>G (p.Lys570=) c.276A>G (p.Lys92=) c.1689A>G (p.Lys563=) c.1824A>G (p.Lys608=) c.1830A>G (p.Lys610=) c.1746A>G (p.Lys582=) c.1674A>G (p.Lys558=) c.1608A>G (p.Lys536=) c.969A>G (p.Lys323=) c.1587A>G (p.Lys529=) | |
9 | g.137776671A>T | CA375775910 | EHMT1 | c.1845A>T (p.Lys615Asn) c.1731A>T (p.Lys577Asn) c.1752A>T (p.Lys584Asn) c.1885A>T (n.1885A>T) c.1472A>T c.1014A>T (p.Lys338Asn) c.*1580A>T (n.*1580A>T) c.702A>T (p.Lys234Asn) c.393A>T (p.Lys131Asn) n.1778T>A c.1836A>T (p.Lys612Asn) c.1827A>T (p.Lys609Asn) c.1854A>T (p.Lys618Asn) c.1851A>T (p.Lys617Asn) c.1833A>T (p.Lys611Asn) c.1776A>T (p.Lys592Asn) c.1710A>T (p.Lys570Asn) c.276A>T (p.Lys92Asn) c.1689A>T (p.Lys563Asn) c.1824A>T (p.Lys608Asn) c.1830A>T (p.Lys610Asn) c.1746A>T (p.Lys582Asn) c.1674A>T (p.Lys558Asn) c.1608A>T (p.Lys536Asn) c.969A>T (p.Lys323Asn) c.1587A>T (p.Lys529Asn) | ClinVar |
9 | g.137776672G>A | CA375775911 | EHMT1 | c.1846G>A (p.Asp616Asn) c.1732G>A (p.Asp578Asn) c.1753G>A (p.Asp585Asn) c.1886G>A (n.1886G>A) c.1473G>A c.1015G>A (p.Asp339Asn) c.*1581G>A (n.*1581G>A) c.703G>A (p.Asp235Asn) c.394G>A (p.Asp132Asn) n.1777C>T c.1837G>A (p.Asp613Asn) c.1828G>A (p.Asp610Asn) c.1855G>A (p.Asp619Asn) c.1852G>A (p.Asp618Asn) c.1834G>A (p.Asp612Asn) c.1777G>A (p.Asp593Asn) c.1711G>A (p.Asp571Asn) c.277G>A (p.Asp93Asn) c.1690G>A (p.Asp564Asn) c.1825G>A (p.Asp609Asn) c.1831G>A (p.Asp611Asn) c.1747G>A (p.Asp583Asn) c.1675G>A (p.Asp559Asn) c.1609G>A (p.Asp537Asn) c.970G>A (p.Asp324Asn) c.1588G>A (p.Asp530Asn) | |
9 | g.137776672G>C | CA375775912 | EHMT1 | c.1846G>C (p.Asp616His) c.1732G>C (p.Asp578His) c.1753G>C (p.Asp585His) c.1886G>C (n.1886G>C) c.1473G>C c.1015G>C (p.Asp339His) c.*1581G>C (n.*1581G>C) c.703G>C (p.Asp235His) c.394G>C (p.Asp132His) n.1777C>G c.1837G>C (p.Asp613His) c.1828G>C (p.Asp610His) c.1855G>C (p.Asp619His) c.1852G>C (p.Asp618His) c.1834G>C (p.Asp612His) c.1777G>C (p.Asp593His) c.1711G>C (p.Asp571His) c.277G>C (p.Asp93His) c.1690G>C (p.Asp564His) c.1825G>C (p.Asp609His) c.1831G>C (p.Asp611His) c.1747G>C (p.Asp583His) c.1675G>C (p.Asp559His) c.1609G>C (p.Asp537His) c.970G>C (p.Asp324His) c.1588G>C (p.Asp530His) | |
9 | g.137776672G>T | CA375775920 | EHMT1 | c.1846G>T (p.Asp616Tyr) c.1732G>T (p.Asp578Tyr) c.1753G>T (p.Asp585Tyr) c.1886G>T (n.1886G>T) c.1473G>T c.1015G>T (p.Asp339Tyr) c.*1581G>T (n.*1581G>T) c.703G>T (p.Asp235Tyr) c.394G>T (p.Asp132Tyr) n.1777C>A c.1837G>T (p.Asp613Tyr) c.1828G>T (p.Asp610Tyr) c.1855G>T (p.Asp619Tyr) c.1852G>T (p.Asp618Tyr) c.1834G>T (p.Asp612Tyr) c.1777G>T (p.Asp593Tyr) c.1711G>T (p.Asp571Tyr) c.277G>T (p.Asp93Tyr) c.1690G>T (p.Asp564Tyr) c.1825G>T (p.Asp609Tyr) c.1831G>T (p.Asp611Tyr) c.1747G>T (p.Asp583Tyr) c.1675G>T (p.Asp559Tyr) c.1609G>T (p.Asp537Tyr) c.970G>T (p.Asp324Tyr) c.1588G>T (p.Asp530Tyr) | |
9 | g.137776673A>C | CA375775922 | EHMT1 | c.1847A>C (p.Asp616Ala) c.1733A>C (p.Asp578Ala) c.1754A>C (p.Asp585Ala) c.1887A>C (n.1887A>C) c.1474A>C c.1016A>C (p.Asp339Ala) c.*1582A>C (n.*1582A>C) c.704A>C (p.Asp235Ala) c.395A>C (p.Asp132Ala) n.1776T>G c.1838A>C (p.Asp613Ala) c.1829A>C (p.Asp610Ala) c.1856A>C (p.Asp619Ala) c.1853A>C (p.Asp618Ala) c.1835A>C (p.Asp612Ala) c.1778A>C (p.Asp593Ala) c.1712A>C (p.Asp571Ala) c.278A>C (p.Asp93Ala) c.1691A>C (p.Asp564Ala) c.1826A>C (p.Asp609Ala) c.1832A>C (p.Asp611Ala) c.1748A>C (p.Asp583Ala) c.1676A>C (p.Asp559Ala) c.1610A>C (p.Asp537Ala) c.971A>C (p.Asp324Ala) c.1589A>C (p.Asp530Ala) | |
9 | g.137776673A>G | CA375775923 | EHMT1 | c.1847A>G (p.Asp616Gly) c.1733A>G (p.Asp578Gly) c.1754A>G (p.Asp585Gly) c.1887A>G (n.1887A>G) c.1474A>G c.1016A>G (p.Asp339Gly) c.*1582A>G (n.*1582A>G) c.704A>G (p.Asp235Gly) c.395A>G (p.Asp132Gly) n.1776T>C c.1838A>G (p.Asp613Gly) c.1829A>G (p.Asp610Gly) c.1856A>G (p.Asp619Gly) c.1853A>G (p.Asp618Gly) c.1835A>G (p.Asp612Gly) c.1778A>G (p.Asp593Gly) c.1712A>G (p.Asp571Gly) c.278A>G (p.Asp93Gly) c.1691A>G (p.Asp564Gly) c.1826A>G (p.Asp609Gly) c.1832A>G (p.Asp611Gly) c.1748A>G (p.Asp583Gly) c.1676A>G (p.Asp559Gly) c.1610A>G (p.Asp537Gly) c.971A>G (p.Asp324Gly) c.1589A>G (p.Asp530Gly) | |
9 | g.137776673A>T | CA375775926 | EHMT1 | c.1847A>T (p.Asp616Val) c.1733A>T (p.Asp578Val) c.1754A>T (p.Asp585Val) c.1887A>T (n.1887A>T) c.1474A>T c.1016A>T (p.Asp339Val) c.*1582A>T (n.*1582A>T) c.704A>T (p.Asp235Val) c.395A>T (p.Asp132Val) n.1776T>A c.1838A>T (p.Asp613Val) c.1829A>T (p.Asp610Val) c.1856A>T (p.Asp619Val) c.1853A>T (p.Asp618Val) c.1835A>T (p.Asp612Val) c.1778A>T (p.Asp593Val) c.1712A>T (p.Asp571Val) c.278A>T (p.Asp93Val) c.1691A>T (p.Asp564Val) c.1826A>T (p.Asp609Val) c.1832A>T (p.Asp611Val) c.1748A>T (p.Asp583Val) c.1676A>T (p.Asp559Val) c.1610A>T (p.Asp537Val) c.971A>T (p.Asp324Val) c.1589A>T (p.Asp530Val) | |
9 | g.137776674C>A | CA375775927 | EHMT1 | c.1848C>A (p.Asp616Glu) c.1734C>A (p.Asp578Glu) c.1755C>A (p.Asp585Glu) c.1888C>A (n.1888C>A) c.1475C>A c.1017C>A (p.Asp339Glu) c.*1583C>A (n.*1583C>A) c.705C>A (p.Asp235Glu) c.396C>A (p.Asp132Glu) n.1775G>T c.1839C>A (p.Asp613Glu) c.1830C>A (p.Asp610Glu) c.1857C>A (p.Asp619Glu) c.1854C>A (p.Asp618Glu) c.1836C>A (p.Asp612Glu) c.1779C>A (p.Asp593Glu) c.1713C>A (p.Asp571Glu) c.279C>A (p.Asp93Glu) c.1692C>A (p.Asp564Glu) c.1827C>A (p.Asp609Glu) c.1833C>A (p.Asp611Glu) c.1749C>A (p.Asp583Glu) c.1677C>A (p.Asp559Glu) c.1611C>A (p.Asp537Glu) c.972C>A (p.Asp324Glu) c.1590C>A (p.Asp530Glu) | |
9 | g.137776674C= | CA1884666480 | EHMT1 | c.1848C= (p.Asp616=) c.1734C= (p.Asp578=) c.1755C= (p.Asp585=) c.1888C= (n.1888C=) c.1475C= c.1017C= (p.Asp339=) c.*1583C= (n.*1583C=) c.705C= (p.Asp235=) c.396C= (p.Asp132=) n.1775G= c.1839C= (p.Asp613=) c.1830C= (p.Asp610=) c.1857C= (p.Asp619=) c.1854C= (p.Asp618=) c.1836C= (p.Asp612=) c.1779C= (p.Asp593=) c.1713C= (p.Asp571=) c.279C= (p.Asp93=) c.1692C= (p.Asp564=) c.1827C= (p.Asp609=) c.1833C= (p.Asp611=) c.1749C= (p.Asp583=) c.1677C= (p.Asp559=) c.1611C= (p.Asp537=) c.972C= (p.Asp324=) c.1590C= (p.Asp530=) | |
9 | g.137776674C>G | CA5374747 | EHMT1 | c.1848C>G (p.Asp616Glu) c.1734C>G (p.Asp578Glu) c.1755C>G (p.Asp585Glu) c.1888C>G (n.1888C>G) c.1475C>G c.1017C>G (p.Asp339Glu) c.*1583C>G (n.*1583C>G) c.705C>G (p.Asp235Glu) c.396C>G (p.Asp132Glu) n.1775G>C c.1839C>G (p.Asp613Glu) c.1830C>G (p.Asp610Glu) c.1857C>G (p.Asp619Glu) c.1854C>G (p.Asp618Glu) c.1836C>G (p.Asp612Glu) c.1779C>G (p.Asp593Glu) c.1713C>G (p.Asp571Glu) c.279C>G (p.Asp93Glu) c.1692C>G (p.Asp564Glu) c.1827C>G (p.Asp609Glu) c.1833C>G (p.Asp611Glu) c.1749C>G (p.Asp583Glu) c.1677C>G (p.Asp559Glu) c.1611C>G (p.Asp537Glu) c.972C>G (p.Asp324Glu) c.1590C>G (p.Asp530Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776674C>T | CA467874059 | EHMT1 | c.1848C>T (p.Asp616=) c.1734C>T (p.Asp578=) c.1755C>T (p.Asp585=) c.1888C>T (n.1888C>T) c.1475C>T c.1017C>T (p.Asp339=) c.*1583C>T (n.*1583C>T) c.705C>T (p.Asp235=) c.396C>T (p.Asp132=) n.1775G>A c.1839C>T (p.Asp613=) c.1830C>T (p.Asp610=) c.1857C>T (p.Asp619=) c.1854C>T (p.Asp618=) c.1836C>T (p.Asp612=) c.1779C>T (p.Asp593=) c.1713C>T (p.Asp571=) c.279C>T (p.Asp93=) c.1692C>T (p.Asp564=) c.1827C>T (p.Asp609=) c.1833C>T (p.Asp611=) c.1749C>T (p.Asp583=) c.1677C>T (p.Asp559=) c.1611C>T (p.Asp537=) c.972C>T (p.Asp324=) c.1590C>T (p.Asp530=) | ClinVar dbSNP |
9 | g.137776675T>A | CA375775928 | EHMT1 | c.1849T>A (p.Cys617Ser) c.1735T>A (p.Cys579Ser) c.1756T>A (p.Cys586Ser) c.1889T>A (n.1889T>A) c.1476T>A c.1018T>A (p.Cys340Ser) c.*1584T>A (n.*1584T>A) c.706T>A (p.Cys236Ser) c.397T>A (p.Cys133Ser) n.1774A>T c.1840T>A (p.Cys614Ser) c.1831T>A (p.Cys611Ser) c.1858T>A (p.Cys620Ser) c.1855T>A (p.Cys619Ser) c.1837T>A (p.Cys613Ser) c.1780T>A (p.Cys594Ser) c.1714T>A (p.Cys572Ser) c.280T>A (p.Cys94Ser) c.1693T>A (p.Cys565Ser) c.1828T>A (p.Cys610Ser) c.1834T>A (p.Cys612Ser) c.1750T>A (p.Cys584Ser) c.1678T>A (p.Cys560Ser) c.1612T>A (p.Cys538Ser) c.973T>A (p.Cys325Ser) c.1591T>A (p.Cys531Ser) | |
9 | g.137776675T>C | CA375775932 | EHMT1 | c.1849T>C (p.Cys617Arg) c.1735T>C (p.Cys579Arg) c.1756T>C (p.Cys586Arg) c.1889T>C (n.1889T>C) c.1476T>C c.1018T>C (p.Cys340Arg) c.*1584T>C (n.*1584T>C) c.706T>C (p.Cys236Arg) c.397T>C (p.Cys133Arg) n.1774A>G c.1840T>C (p.Cys614Arg) c.1831T>C (p.Cys611Arg) c.1858T>C (p.Cys620Arg) c.1855T>C (p.Cys619Arg) c.1837T>C (p.Cys613Arg) c.1780T>C (p.Cys594Arg) c.1714T>C (p.Cys572Arg) c.280T>C (p.Cys94Arg) c.1693T>C (p.Cys565Arg) c.1828T>C (p.Cys610Arg) c.1834T>C (p.Cys612Arg) c.1750T>C (p.Cys584Arg) c.1678T>C (p.Cys560Arg) c.1612T>C (p.Cys538Arg) c.973T>C (p.Cys325Arg) c.1591T>C (p.Cys531Arg) | |
9 | g.137776675T>G | CA375775929 | EHMT1 | c.1849T>G (p.Cys617Gly) c.1735T>G (p.Cys579Gly) c.1756T>G (p.Cys586Gly) c.1889T>G (n.1889T>G) c.1476T>G c.1018T>G (p.Cys340Gly) c.*1584T>G (n.*1584T>G) c.706T>G (p.Cys236Gly) c.397T>G (p.Cys133Gly) n.1774A>C c.1840T>G (p.Cys614Gly) c.1831T>G (p.Cys611Gly) c.1858T>G (p.Cys620Gly) c.1855T>G (p.Cys619Gly) c.1837T>G (p.Cys613Gly) c.1780T>G (p.Cys594Gly) c.1714T>G (p.Cys572Gly) c.280T>G (p.Cys94Gly) c.1693T>G (p.Cys565Gly) c.1828T>G (p.Cys610Gly) c.1834T>G (p.Cys612Gly) c.1750T>G (p.Cys584Gly) c.1678T>G (p.Cys560Gly) c.1612T>G (p.Cys538Gly) c.973T>G (p.Cys325Gly) c.1591T>G (p.Cys531Gly) | |
9 | g.137776677_137776678dup | CA2843744783 | EHMT1 | c.1851_1852dup (p.Ala618ValfsTer24) c.1737_1738dup (p.Ala580ValfsTer24) c.1758_1759dup (p.Ala587ValfsTer24) c.1891_1892dup (n.1891_1892dup) c.1478_1479dup c.1020_1021dup (p.Ala341ValfsTer24) c.*1586_*1587dup (n.*1586_*1587dup) c.708_709dup (p.Ala237ValfsTer24) c.399_400dup (p.Ala134ValfsTer24) n.1773_1774dup c.1842_1843dup (p.Ala615ValfsTer24) c.1833_1834dup (p.Ala612ValfsTer24) c.1860_1861dup (p.Ala621ValfsTer24) c.1857_1858dup (p.Ala620ValfsTer24) c.1839_1840dup (p.Ala614ValfsTer24) c.1782_1783dup (p.Ala595ValfsTer24) c.1716_1717dup (p.Ala573ValfsTer24) c.282_283dup (p.Ala95ValfsTer24) c.1695_1696dup (p.Ala566ValfsTer24) c.1830_1831dup (p.Ala611ValfsTer24) c.1836_1837dup (p.Ala613ValfsTer24) c.1752_1753dup (p.Ala585ValfsTer24) c.1680_1681dup (p.Ala561ValfsTer24) c.1614_1615dup (p.Ala539ValfsTer24) c.975_976dup (p.Ala326ValfsTer24) c.1593_1594dup (p.Ala532ValfsTer24) | |
9 | g.137776676G>A | CA375775936 | EHMT1 | c.1850G>A (p.Cys617Tyr) c.1736G>A (p.Cys579Tyr) c.1757G>A (p.Cys586Tyr) c.1890G>A (n.1890G>A) c.1477G>A c.1019G>A (p.Cys340Tyr) c.*1585G>A (n.*1585G>A) c.707G>A (p.Cys236Tyr) c.398G>A (p.Cys133Tyr) n.1773C>T c.1841G>A (p.Cys614Tyr) c.1832G>A (p.Cys611Tyr) c.1859G>A (p.Cys620Tyr) c.1856G>A (p.Cys619Tyr) c.1838G>A (p.Cys613Tyr) c.1781G>A (p.Cys594Tyr) c.1715G>A (p.Cys572Tyr) c.281G>A (p.Cys94Tyr) c.1694G>A (p.Cys565Tyr) c.1829G>A (p.Cys610Tyr) c.1835G>A (p.Cys612Tyr) c.1751G>A (p.Cys584Tyr) c.1679G>A (p.Cys560Tyr) c.1613G>A (p.Cys538Tyr) c.974G>A (p.Cys325Tyr) c.1592G>A (p.Cys531Tyr) | |
9 | g.137776676G>C | CA375775940 | EHMT1 | c.1850G>C (p.Cys617Ser) c.1736G>C (p.Cys579Ser) c.1757G>C (p.Cys586Ser) c.1890G>C (n.1890G>C) c.1477G>C c.1019G>C (p.Cys340Ser) c.*1585G>C (n.*1585G>C) c.707G>C (p.Cys236Ser) c.398G>C (p.Cys133Ser) n.1773C>G c.1841G>C (p.Cys614Ser) c.1832G>C (p.Cys611Ser) c.1859G>C (p.Cys620Ser) c.1856G>C (p.Cys619Ser) c.1838G>C (p.Cys613Ser) c.1781G>C (p.Cys594Ser) c.1715G>C (p.Cys572Ser) c.281G>C (p.Cys94Ser) c.1694G>C (p.Cys565Ser) c.1829G>C (p.Cys610Ser) c.1835G>C (p.Cys612Ser) c.1751G>C (p.Cys584Ser) c.1679G>C (p.Cys560Ser) c.1613G>C (p.Cys538Ser) c.974G>C (p.Cys325Ser) c.1592G>C (p.Cys531Ser) | |
9 | g.137776676G>T | CA375775942 | EHMT1 | c.1850G>T (p.Cys617Phe) c.1736G>T (p.Cys579Phe) c.1757G>T (p.Cys586Phe) c.1890G>T (n.1890G>T) c.1477G>T c.1019G>T (p.Cys340Phe) c.*1585G>T (n.*1585G>T) c.707G>T (p.Cys236Phe) c.398G>T (p.Cys133Phe) n.1773C>A c.1841G>T (p.Cys614Phe) c.1832G>T (p.Cys611Phe) c.1859G>T (p.Cys620Phe) c.1856G>T (p.Cys619Phe) c.1838G>T (p.Cys613Phe) c.1781G>T (p.Cys594Phe) c.1715G>T (p.Cys572Phe) c.281G>T (p.Cys94Phe) c.1694G>T (p.Cys565Phe) c.1829G>T (p.Cys610Phe) c.1835G>T (p.Cys612Phe) c.1751G>T (p.Cys584Phe) c.1679G>T (p.Cys560Phe) c.1613G>T (p.Cys538Phe) c.974G>T (p.Cys325Phe) c.1592G>T (p.Cys531Phe) | |
9 | g.137776677T>A | CA375775946 | EHMT1 | c.1851T>A (p.Cys617Ter) c.1737T>A (p.Cys579Ter) c.1758T>A (p.Cys586Ter) c.1891T>A (n.1891T>A) c.1478T>A c.1020T>A (p.Cys340Ter) c.*1586T>A (n.*1586T>A) c.708T>A (p.Cys236Ter) c.399T>A (p.Cys133Ter) n.1772A>T c.1842T>A (p.Cys614Ter) c.1833T>A (p.Cys611Ter) c.1860T>A (p.Cys620Ter) c.1857T>A (p.Cys619Ter) c.1839T>A (p.Cys613Ter) c.1782T>A (p.Cys594Ter) c.1716T>A (p.Cys572Ter) c.282T>A (p.Cys94Ter) c.1695T>A (p.Cys565Ter) c.1830T>A (p.Cys610Ter) c.1836T>A (p.Cys612Ter) c.1752T>A (p.Cys584Ter) c.1680T>A (p.Cys560Ter) c.1614T>A (p.Cys538Ter) c.975T>A (p.Cys325Ter) c.1593T>A (p.Cys531Ter) | |
9 | g.137776677T>C | CA467874060 | EHMT1 | c.1851T>C (p.Cys617=) c.1737T>C (p.Cys579=) c.1758T>C (p.Cys586=) c.1891T>C (n.1891T>C) c.1478T>C c.1020T>C (p.Cys340=) c.*1586T>C (n.*1586T>C) c.708T>C (p.Cys236=) c.399T>C (p.Cys133=) n.1772A>G c.1842T>C (p.Cys614=) c.1833T>C (p.Cys611=) c.1860T>C (p.Cys620=) c.1857T>C (p.Cys619=) c.1839T>C (p.Cys613=) c.1782T>C (p.Cys594=) c.1716T>C (p.Cys572=) c.282T>C (p.Cys94=) c.1695T>C (p.Cys565=) c.1830T>C (p.Cys610=) c.1836T>C (p.Cys612=) c.1752T>C (p.Cys584=) c.1680T>C (p.Cys560=) c.1614T>C (p.Cys538=) c.975T>C (p.Cys325=) c.1593T>C (p.Cys531=) | gnomAD v4 |
9 | g.137776677T>G | CA375775952 | EHMT1 | c.1851T>G (p.Cys617Trp) c.1737T>G (p.Cys579Trp) c.1758T>G (p.Cys586Trp) c.1891T>G (n.1891T>G) c.1478T>G c.1020T>G (p.Cys340Trp) c.*1586T>G (n.*1586T>G) c.708T>G (p.Cys236Trp) c.399T>G (p.Cys133Trp) n.1772A>C c.1842T>G (p.Cys614Trp) c.1833T>G (p.Cys611Trp) c.1860T>G (p.Cys620Trp) c.1857T>G (p.Cys619Trp) c.1839T>G (p.Cys613Trp) c.1782T>G (p.Cys594Trp) c.1716T>G (p.Cys572Trp) c.282T>G (p.Cys94Trp) c.1695T>G (p.Cys565Trp) c.1830T>G (p.Cys610Trp) c.1836T>G (p.Cys612Trp) c.1752T>G (p.Cys584Trp) c.1680T>G (p.Cys560Trp) c.1614T>G (p.Cys538Trp) c.975T>G (p.Cys325Trp) c.1593T>G (p.Cys531Trp) | |
9 | g.137776678G>A | CA375775961 | EHMT1 | c.1852G>A (p.Ala618Thr) c.1738G>A (p.Ala580Thr) c.1759G>A (p.Ala587Thr) c.1892G>A (n.1892G>A) c.1479G>A c.1021G>A (p.Ala341Thr) c.*1587G>A (n.*1587G>A) c.709G>A (p.Ala237Thr) c.400G>A (p.Ala134Thr) n.1771C>T c.1843G>A (p.Ala615Thr) c.1834G>A (p.Ala612Thr) c.1861G>A (p.Ala621Thr) c.1858G>A (p.Ala620Thr) c.1840G>A (p.Ala614Thr) c.1783G>A (p.Ala595Thr) c.1717G>A (p.Ala573Thr) c.283G>A (p.Ala95Thr) c.1696G>A (p.Ala566Thr) c.1831G>A (p.Ala611Thr) c.1837G>A (p.Ala613Thr) c.1753G>A (p.Ala585Thr) c.1681G>A (p.Ala561Thr) c.1615G>A (p.Ala539Thr) c.976G>A (p.Ala326Thr) c.1594G>A (p.Ala532Thr) | |
9 | g.137776678G>C | CA375775967 | EHMT1 | c.1852G>C (p.Ala618Pro) c.1738G>C (p.Ala580Pro) c.1759G>C (p.Ala587Pro) c.1892G>C (n.1892G>C) c.1479G>C c.1021G>C (p.Ala341Pro) c.*1587G>C (n.*1587G>C) c.709G>C (p.Ala237Pro) c.400G>C (p.Ala134Pro) n.1771C>G c.1843G>C (p.Ala615Pro) c.1834G>C (p.Ala612Pro) c.1861G>C (p.Ala621Pro) c.1858G>C (p.Ala620Pro) c.1840G>C (p.Ala614Pro) c.1783G>C (p.Ala595Pro) c.1717G>C (p.Ala573Pro) c.283G>C (p.Ala95Pro) c.1696G>C (p.Ala566Pro) c.1831G>C (p.Ala611Pro) c.1837G>C (p.Ala613Pro) c.1753G>C (p.Ala585Pro) c.1681G>C (p.Ala561Pro) c.1615G>C (p.Ala539Pro) c.976G>C (p.Ala326Pro) c.1594G>C (p.Ala532Pro) | |
9 | g.137776678G>T | CA375775968 | EHMT1 | c.1852G>T (p.Ala618Ser) c.1738G>T (p.Ala580Ser) c.1759G>T (p.Ala587Ser) c.1892G>T (n.1892G>T) c.1479G>T c.1021G>T (p.Ala341Ser) c.*1587G>T (n.*1587G>T) c.709G>T (p.Ala237Ser) c.400G>T (p.Ala134Ser) n.1771C>A c.1843G>T (p.Ala615Ser) c.1834G>T (p.Ala612Ser) c.1861G>T (p.Ala621Ser) c.1858G>T (p.Ala620Ser) c.1840G>T (p.Ala614Ser) c.1783G>T (p.Ala595Ser) c.1717G>T (p.Ala573Ser) c.283G>T (p.Ala95Ser) c.1696G>T (p.Ala566Ser) c.1831G>T (p.Ala611Ser) c.1837G>T (p.Ala613Ser) c.1753G>T (p.Ala585Ser) c.1681G>T (p.Ala561Ser) c.1615G>T (p.Ala539Ser) c.976G>T (p.Ala326Ser) c.1594G>T (p.Ala532Ser) | |
9 | g.137776679C>A | CA375775971 | EHMT1 | c.1853C>A (p.Ala618Asp) c.1739C>A (p.Ala580Asp) c.1760C>A (p.Ala587Asp) c.1893C>A (n.1893C>A) c.1480C>A c.1022C>A (p.Ala341Asp) c.*1588C>A (n.*1588C>A) c.710C>A (p.Ala237Asp) c.401C>A (p.Ala134Asp) n.1770G>T c.1844C>A (p.Ala615Asp) c.1835C>A (p.Ala612Asp) c.1862C>A (p.Ala621Asp) c.1859C>A (p.Ala620Asp) c.1841C>A (p.Ala614Asp) c.1784C>A (p.Ala595Asp) c.1718C>A (p.Ala573Asp) c.284C>A (p.Ala95Asp) c.1697C>A (p.Ala566Asp) c.1832C>A (p.Ala611Asp) c.1838C>A (p.Ala613Asp) c.1754C>A (p.Ala585Asp) c.1682C>A (p.Ala561Asp) c.1616C>A (p.Ala539Asp) c.977C>A (p.Ala326Asp) c.1595C>A (p.Ala532Asp) | |
9 | g.137776679C>G | CA375775972 | EHMT1 | c.1853C>G (p.Ala618Gly) c.1739C>G (p.Ala580Gly) c.1760C>G (p.Ala587Gly) c.1893C>G (n.1893C>G) c.1480C>G c.1022C>G (p.Ala341Gly) c.*1588C>G (n.*1588C>G) c.710C>G (p.Ala237Gly) c.401C>G (p.Ala134Gly) n.1770G>C c.1844C>G (p.Ala615Gly) c.1835C>G (p.Ala612Gly) c.1862C>G (p.Ala621Gly) c.1859C>G (p.Ala620Gly) c.1841C>G (p.Ala614Gly) c.1784C>G (p.Ala595Gly) c.1718C>G (p.Ala573Gly) c.284C>G (p.Ala95Gly) c.1697C>G (p.Ala566Gly) c.1832C>G (p.Ala611Gly) c.1838C>G (p.Ala613Gly) c.1754C>G (p.Ala585Gly) c.1682C>G (p.Ala561Gly) c.1616C>G (p.Ala539Gly) c.977C>G (p.Ala326Gly) c.1595C>G (p.Ala532Gly) | |
9 | g.137776679C>T | CA375775974 | EHMT1 | c.1853C>T (p.Ala618Val) c.1739C>T (p.Ala580Val) c.1760C>T (p.Ala587Val) c.1893C>T (n.1893C>T) c.1480C>T c.1022C>T (p.Ala341Val) c.*1588C>T (n.*1588C>T) c.710C>T (p.Ala237Val) c.401C>T (p.Ala134Val) n.1770G>A c.1844C>T (p.Ala615Val) c.1835C>T (p.Ala612Val) c.1862C>T (p.Ala621Val) c.1859C>T (p.Ala620Val) c.1841C>T (p.Ala614Val) c.1784C>T (p.Ala595Val) c.1718C>T (p.Ala573Val) c.284C>T (p.Ala95Val) c.1697C>T (p.Ala566Val) c.1832C>T (p.Ala611Val) c.1838C>T (p.Ala613Val) c.1754C>T (p.Ala585Val) c.1682C>T (p.Ala561Val) c.1616C>T (p.Ala539Val) c.977C>T (p.Ala326Val) c.1595C>T (p.Ala532Val) | |
9 | g.137776680C>A | CA467874061 | EHMT1 | c.1854C>A (p.Ala618=) c.1740C>A (p.Ala580=) c.1761C>A (p.Ala587=) c.1894C>A (n.1894C>A) c.1481C>A c.1023C>A (p.Ala341=) c.*1589C>A (n.*1589C>A) c.711C>A (p.Ala237=) c.402C>A (p.Ala134=) n.1769G>T c.1845C>A (p.Ala615=) c.1836C>A (p.Ala612=) c.1863C>A (p.Ala621=) c.1860C>A (p.Ala620=) c.1842C>A (p.Ala614=) c.1785C>A (p.Ala595=) c.1719C>A (p.Ala573=) c.285C>A (p.Ala95=) c.1698C>A (p.Ala566=) c.1833C>A (p.Ala611=) c.1839C>A (p.Ala613=) c.1755C>A (p.Ala585=) c.1683C>A (p.Ala561=) c.1617C>A (p.Ala539=) c.978C>A (p.Ala326=) c.1596C>A (p.Ala532=) | |
9 | g.137776680C= | CA1884666481 | EHMT1 | c.1854C= (p.Ala618=) c.1740C= (p.Ala580=) c.1761C= (p.Ala587=) c.1894C= (n.1894C=) c.1481C= c.1023C= (p.Ala341=) c.*1589C= (n.*1589C=) c.711C= (p.Ala237=) c.402C= (p.Ala134=) n.1769G= c.1845C= (p.Ala615=) c.1836C= (p.Ala612=) c.1863C= (p.Ala621=) c.1860C= (p.Ala620=) c.1842C= (p.Ala614=) c.1785C= (p.Ala595=) c.1719C= (p.Ala573=) c.285C= (p.Ala95=) c.1698C= (p.Ala566=) c.1833C= (p.Ala611=) c.1839C= (p.Ala613=) c.1755C= (p.Ala585=) c.1683C= (p.Ala561=) c.1617C= (p.Ala539=) c.978C= (p.Ala326=) c.1596C= (p.Ala532=) | |
9 | g.137776680C>G | CA467874062 | EHMT1 | c.1854C>G (p.Ala618=) c.1740C>G (p.Ala580=) c.1761C>G (p.Ala587=) c.1894C>G (n.1894C>G) c.1481C>G c.1023C>G (p.Ala341=) c.*1589C>G (n.*1589C>G) c.711C>G (p.Ala237=) c.402C>G (p.Ala134=) n.1769G>C c.1845C>G (p.Ala615=) c.1836C>G (p.Ala612=) c.1863C>G (p.Ala621=) c.1860C>G (p.Ala620=) c.1842C>G (p.Ala614=) c.1785C>G (p.Ala595=) c.1719C>G (p.Ala573=) c.285C>G (p.Ala95=) c.1698C>G (p.Ala566=) c.1833C>G (p.Ala611=) c.1839C>G (p.Ala613=) c.1755C>G (p.Ala585=) c.1683C>G (p.Ala561=) c.1617C>G (p.Ala539=) c.978C>G (p.Ala326=) c.1596C>G (p.Ala532=) | |
9 | g.137776680C>T | CA467874063 | EHMT1 | c.1854C>T (p.Ala618=) c.1740C>T (p.Ala580=) c.1761C>T (p.Ala587=) c.1894C>T (n.1894C>T) c.1481C>T c.1023C>T (p.Ala341=) c.*1589C>T (n.*1589C>T) c.711C>T (p.Ala237=) c.402C>T (p.Ala134=) n.1769G>A c.1845C>T (p.Ala615=) c.1836C>T (p.Ala612=) c.1863C>T (p.Ala621=) c.1860C>T (p.Ala620=) c.1842C>T (p.Ala614=) c.1785C>T (p.Ala595=) c.1719C>T (p.Ala573=) c.285C>T (p.Ala95=) c.1698C>T (p.Ala566=) c.1833C>T (p.Ala611=) c.1839C>T (p.Ala613=) c.1755C>T (p.Ala585=) c.1683C>T (p.Ala561=) c.1617C>T (p.Ala539=) c.978C>T (p.Ala326=) c.1596C>T (p.Ala532=) | dbSNP COSMIC COSMIC COSMIC |
9 | g.137776681T>A | CA375775986 | EHMT1 | c.1855T>A (p.Ser619Thr) c.1741T>A (p.Ser581Thr) c.1762T>A (p.Ser588Thr) c.1895T>A (n.1895T>A) c.1482T>A c.1024T>A (p.Ser342Thr) c.*1590T>A (n.*1590T>A) c.712T>A (p.Ser238Thr) c.403T>A (p.Ser135Thr) n.1768A>T c.1846T>A (p.Ser616Thr) c.1837T>A (p.Ser613Thr) c.1864T>A (p.Ser622Thr) c.1861T>A (p.Ser621Thr) c.1843T>A (p.Ser615Thr) c.1786T>A (p.Ser596Thr) c.1720T>A (p.Ser574Thr) c.286T>A (p.Ser96Thr) c.1699T>A (p.Ser567Thr) c.1834T>A (p.Ser612Thr) c.1840T>A (p.Ser614Thr) c.1756T>A (p.Ser586Thr) c.1684T>A (p.Ser562Thr) c.1618T>A (p.Ser540Thr) c.979T>A (p.Ser327Thr) c.1597T>A (p.Ser533Thr) | |
9 | g.137776681T>C | CA375775984 | EHMT1 | c.1855T>C (p.Ser619Pro) c.1741T>C (p.Ser581Pro) c.1762T>C (p.Ser588Pro) c.1895T>C (n.1895T>C) c.1482T>C c.1024T>C (p.Ser342Pro) c.*1590T>C (n.*1590T>C) c.712T>C (p.Ser238Pro) c.403T>C (p.Ser135Pro) n.1768A>G c.1846T>C (p.Ser616Pro) c.1837T>C (p.Ser613Pro) c.1864T>C (p.Ser622Pro) c.1861T>C (p.Ser621Pro) c.1843T>C (p.Ser615Pro) c.1786T>C (p.Ser596Pro) c.1720T>C (p.Ser574Pro) c.286T>C (p.Ser96Pro) c.1699T>C (p.Ser567Pro) c.1834T>C (p.Ser612Pro) c.1840T>C (p.Ser614Pro) c.1756T>C (p.Ser586Pro) c.1684T>C (p.Ser562Pro) c.1618T>C (p.Ser540Pro) c.979T>C (p.Ser327Pro) c.1597T>C (p.Ser533Pro) | |
9 | g.137776681T>G | CA375775981 | EHMT1 | c.1855T>G (p.Ser619Ala) c.1741T>G (p.Ser581Ala) c.1762T>G (p.Ser588Ala) c.1895T>G (n.1895T>G) c.1482T>G c.1024T>G (p.Ser342Ala) c.*1590T>G (n.*1590T>G) c.712T>G (p.Ser238Ala) c.403T>G (p.Ser135Ala) n.1768A>C c.1846T>G (p.Ser616Ala) c.1837T>G (p.Ser613Ala) c.1864T>G (p.Ser622Ala) c.1861T>G (p.Ser621Ala) c.1843T>G (p.Ser615Ala) c.1786T>G (p.Ser596Ala) c.1720T>G (p.Ser574Ala) c.286T>G (p.Ser96Ala) c.1699T>G (p.Ser567Ala) c.1834T>G (p.Ser612Ala) c.1840T>G (p.Ser614Ala) c.1756T>G (p.Ser586Ala) c.1684T>G (p.Ser562Ala) c.1618T>G (p.Ser540Ala) c.979T>G (p.Ser327Ala) c.1597T>G (p.Ser533Ala) | |
9 | g.137776682C>A | CA375775994 | EHMT1 | c.1856C>A (p.Ser619Tyr) c.1742C>A (p.Ser581Tyr) c.1763C>A (p.Ser588Tyr) c.1896C>A (n.1896C>A) c.1483C>A c.1025C>A (p.Ser342Tyr) c.*1591C>A (n.*1591C>A) c.713C>A (p.Ser238Tyr) c.404C>A (p.Ser135Tyr) n.1767G>T c.1847C>A (p.Ser616Tyr) c.1838C>A (p.Ser613Tyr) c.1865C>A (p.Ser622Tyr) c.1862C>A (p.Ser621Tyr) c.1844C>A (p.Ser615Tyr) c.1787C>A (p.Ser596Tyr) c.1721C>A (p.Ser574Tyr) c.287C>A (p.Ser96Tyr) c.1700C>A (p.Ser567Tyr) c.1835C>A (p.Ser612Tyr) c.1841C>A (p.Ser614Tyr) c.1757C>A (p.Ser586Tyr) c.1685C>A (p.Ser562Tyr) c.1619C>A (p.Ser540Tyr) c.980C>A (p.Ser327Tyr) c.1598C>A (p.Ser533Tyr) | |
9 | g.137776682C>G | CA375775996 | EHMT1 | c.1856C>G (p.Ser619Cys) c.1742C>G (p.Ser581Cys) c.1763C>G (p.Ser588Cys) c.1896C>G (n.1896C>G) c.1483C>G c.1025C>G (p.Ser342Cys) c.*1591C>G (n.*1591C>G) c.713C>G (p.Ser238Cys) c.404C>G (p.Ser135Cys) n.1767G>C c.1847C>G (p.Ser616Cys) c.1838C>G (p.Ser613Cys) c.1865C>G (p.Ser622Cys) c.1862C>G (p.Ser621Cys) c.1844C>G (p.Ser615Cys) c.1787C>G (p.Ser596Cys) c.1721C>G (p.Ser574Cys) c.287C>G (p.Ser96Cys) c.1700C>G (p.Ser567Cys) c.1835C>G (p.Ser612Cys) c.1841C>G (p.Ser614Cys) c.1757C>G (p.Ser586Cys) c.1685C>G (p.Ser562Cys) c.1619C>G (p.Ser540Cys) c.980C>G (p.Ser327Cys) c.1598C>G (p.Ser533Cys) | |
9 | g.137776682C>T | CA375776010 | EHMT1 | c.1856C>T (p.Ser619Phe) c.1742C>T (p.Ser581Phe) c.1763C>T (p.Ser588Phe) c.1896C>T (n.1896C>T) c.1483C>T c.1025C>T (p.Ser342Phe) c.*1591C>T (n.*1591C>T) c.713C>T (p.Ser238Phe) c.404C>T (p.Ser135Phe) n.1767G>A c.1847C>T (p.Ser616Phe) c.1838C>T (p.Ser613Phe) c.1865C>T (p.Ser622Phe) c.1862C>T (p.Ser621Phe) c.1844C>T (p.Ser615Phe) c.1787C>T (p.Ser596Phe) c.1721C>T (p.Ser574Phe) c.287C>T (p.Ser96Phe) c.1700C>T (p.Ser567Phe) c.1835C>T (p.Ser612Phe) c.1841C>T (p.Ser614Phe) c.1757C>T (p.Ser586Phe) c.1685C>T (p.Ser562Phe) c.1619C>T (p.Ser540Phe) c.980C>T (p.Ser327Phe) c.1598C>T (p.Ser533Phe) | |
9 | g.137776683T>A | CA467874064 | EHMT1 | c.1857T>A (p.Ser619=) c.1743T>A (p.Ser581=) c.1764T>A (p.Ser588=) c.1897T>A (n.1897T>A) c.1484T>A c.1026T>A (p.Ser342=) c.*1592T>A (n.*1592T>A) c.714T>A (p.Ser238=) c.405T>A (p.Ser135=) n.1766A>T c.1848T>A (p.Ser616=) c.1839T>A (p.Ser613=) c.1866T>A (p.Ser622=) c.1863T>A (p.Ser621=) c.1845T>A (p.Ser615=) c.1788T>A (p.Ser596=) c.1722T>A (p.Ser574=) c.288T>A (p.Ser96=) c.1701T>A (p.Ser567=) c.1836T>A (p.Ser612=) c.1842T>A (p.Ser614=) c.1758T>A (p.Ser586=) c.1686T>A (p.Ser562=) c.1620T>A (p.Ser540=) c.981T>A (p.Ser327=) c.1599T>A (p.Ser533=) | |
9 | g.137776683T>C | CA467874065 | EHMT1 | c.1857T>C (p.Ser619=) c.1743T>C (p.Ser581=) c.1764T>C (p.Ser588=) c.1897T>C (n.1897T>C) c.1484T>C c.1026T>C (p.Ser342=) c.*1592T>C (n.*1592T>C) c.714T>C (p.Ser238=) c.405T>C (p.Ser135=) n.1766A>G c.1848T>C (p.Ser616=) c.1839T>C (p.Ser613=) c.1866T>C (p.Ser622=) c.1863T>C (p.Ser621=) c.1845T>C (p.Ser615=) c.1788T>C (p.Ser596=) c.1722T>C (p.Ser574=) c.288T>C (p.Ser96=) c.1701T>C (p.Ser567=) c.1836T>C (p.Ser612=) c.1842T>C (p.Ser614=) c.1758T>C (p.Ser586=) c.1686T>C (p.Ser562=) c.1620T>C (p.Ser540=) c.981T>C (p.Ser327=) c.1599T>C (p.Ser533=) | |
9 | g.137776683T>G | CA467874066 | EHMT1 | c.1857T>G (p.Ser619=) c.1743T>G (p.Ser581=) c.1764T>G (p.Ser588=) c.1897T>G (n.1897T>G) c.1484T>G c.1026T>G (p.Ser342=) c.*1592T>G (n.*1592T>G) c.714T>G (p.Ser238=) c.405T>G (p.Ser135=) n.1766A>C c.1848T>G (p.Ser616=) c.1839T>G (p.Ser613=) c.1866T>G (p.Ser622=) c.1863T>G (p.Ser621=) c.1845T>G (p.Ser615=) c.1788T>G (p.Ser596=) c.1722T>G (p.Ser574=) c.288T>G (p.Ser96=) c.1701T>G (p.Ser567=) c.1836T>G (p.Ser612=) c.1842T>G (p.Ser614=) c.1758T>G (p.Ser586=) c.1686T>G (p.Ser562=) c.1620T>G (p.Ser540=) c.981T>G (p.Ser327=) c.1599T>G (p.Ser533=) | |
9 | g.137776684C>A | CA5374748 | EHMT1 | c.1858C>A (p.Arg620=) c.1744C>A (p.Arg582=) c.1765C>A (p.Arg589=) c.1898C>A (n.1898C>A) c.1485C>A c.1027C>A (p.Arg343=) c.*1593C>A (n.*1593C>A) c.715C>A (p.Arg239=) c.406C>A (p.Arg136=) n.1765G>T c.1849C>A (p.Arg617=) c.1840C>A (p.Arg614=) c.1867C>A (p.Arg623=) c.1864C>A (p.Arg622=) c.1846C>A (p.Arg616=) c.1789C>A (p.Arg597=) c.1723C>A (p.Arg575=) c.289C>A (p.Arg97=) c.1702C>A (p.Arg568=) c.1837C>A (p.Arg613=) c.1843C>A (p.Arg615=) c.1759C>A (p.Arg587=) c.1687C>A (p.Arg563=) c.1621C>A (p.Arg541=) c.982C>A (p.Arg328=) c.1600C>A (p.Arg534=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.137776684C= | CA1884666482 | EHMT1 | c.1858C= (p.Arg620=) c.1744C= (p.Arg582=) c.1765C= (p.Arg589=) c.1898C= (n.1898C=) c.1485C= c.1027C= (p.Arg343=) c.*1593C= (n.*1593C=) c.715C= (p.Arg239=) c.406C= (p.Arg136=) n.1765G= c.1849C= (p.Arg617=) c.1840C= (p.Arg614=) c.1867C= (p.Arg623=) c.1864C= (p.Arg622=) c.1846C= (p.Arg616=) c.1789C= (p.Arg597=) c.1723C= (p.Arg575=) c.289C= (p.Arg97=) c.1702C= (p.Arg568=) c.1837C= (p.Arg613=) c.1843C= (p.Arg615=) c.1759C= (p.Arg587=) c.1687C= (p.Arg563=) c.1621C= (p.Arg541=) c.982C= (p.Arg328=) c.1600C= (p.Arg534=) | |
9 | g.137776684C>G | CA375776013 | EHMT1 | c.1858C>G (p.Arg620Gly) c.1744C>G (p.Arg582Gly) c.1765C>G (p.Arg589Gly) c.1898C>G (n.1898C>G) c.1485C>G c.1027C>G (p.Arg343Gly) c.*1593C>G (n.*1593C>G) c.715C>G (p.Arg239Gly) c.406C>G (p.Arg136Gly) n.1765G>C c.1849C>G (p.Arg617Gly) c.1840C>G (p.Arg614Gly) c.1867C>G (p.Arg623Gly) c.1864C>G (p.Arg622Gly) c.1846C>G (p.Arg616Gly) c.1789C>G (p.Arg597Gly) c.1723C>G (p.Arg575Gly) c.289C>G (p.Arg97Gly) c.1702C>G (p.Arg568Gly) c.1837C>G (p.Arg613Gly) c.1843C>G (p.Arg615Gly) c.1759C>G (p.Arg587Gly) c.1687C>G (p.Arg563Gly) c.1621C>G (p.Arg541Gly) c.982C>G (p.Arg328Gly) c.1600C>G (p.Arg534Gly) | |
9 | g.137776684C>T | CA345052 | EHMT1 | c.1858C>T (p.Arg620Ter) c.1744C>T (p.Arg582Ter) c.1765C>T (p.Arg589Ter) c.1898C>T (n.1898C>T) c.1485C>T c.1027C>T (p.Arg343Ter) c.*1593C>T (n.*1593C>T) c.715C>T (p.Arg239Ter) c.406C>T (p.Arg136Ter) n.1765G>A c.1849C>T (p.Arg617Ter) c.1840C>T (p.Arg614Ter) c.1867C>T (p.Arg623Ter) c.1864C>T (p.Arg622Ter) c.1846C>T (p.Arg616Ter) c.1789C>T (p.Arg597Ter) c.1723C>T (p.Arg575Ter) c.289C>T (p.Arg97Ter) c.1702C>T (p.Arg568Ter) c.1837C>T (p.Arg613Ter) c.1843C>T (p.Arg615Ter) c.1759C>T (p.Arg587Ter) c.1687C>T (p.Arg563Ter) c.1621C>T (p.Arg541Ter) c.982C>T (p.Arg328Ter) c.1600C>T (p.Arg534Ter) | ClinVar dbSNP |
9 | g.137776685G>A | CA5374749 | EHMT1 | c.1859G>A (p.Arg620Gln) c.1745G>A (p.Arg582Gln) c.1766G>A (p.Arg589Gln) c.1899G>A (n.1899G>A) c.1486G>A c.1028G>A (p.Arg343Gln) c.*1594G>A (n.*1594G>A) c.716G>A (p.Arg239Gln) c.407G>A (p.Arg136Gln) n.1764C>T c.1850G>A (p.Arg617Gln) c.1841G>A (p.Arg614Gln) c.1868G>A (p.Arg623Gln) c.1865G>A (p.Arg622Gln) c.1847G>A (p.Arg616Gln) c.1790G>A (p.Arg597Gln) c.1724G>A (p.Arg575Gln) c.290G>A (p.Arg97Gln) c.1703G>A (p.Arg568Gln) c.1838G>A (p.Arg613Gln) c.1844G>A (p.Arg615Gln) c.1760G>A (p.Arg587Gln) c.1688G>A (p.Arg563Gln) c.1622G>A (p.Arg541Gln) c.983G>A (p.Arg328Gln) c.1601G>A (p.Arg534Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776685G>C | CA375776030 | EHMT1 | c.1859G>C (p.Arg620Pro) c.1745G>C (p.Arg582Pro) c.1766G>C (p.Arg589Pro) c.1899G>C (n.1899G>C) c.1486G>C c.1028G>C (p.Arg343Pro) c.*1594G>C (n.*1594G>C) c.716G>C (p.Arg239Pro) c.407G>C (p.Arg136Pro) n.1764C>G c.1850G>C (p.Arg617Pro) c.1841G>C (p.Arg614Pro) c.1868G>C (p.Arg623Pro) c.1865G>C (p.Arg622Pro) c.1847G>C (p.Arg616Pro) c.1790G>C (p.Arg597Pro) c.1724G>C (p.Arg575Pro) c.290G>C (p.Arg97Pro) c.1703G>C (p.Arg568Pro) c.1838G>C (p.Arg613Pro) c.1844G>C (p.Arg615Pro) c.1760G>C (p.Arg587Pro) c.1688G>C (p.Arg563Pro) c.1622G>C (p.Arg541Pro) c.983G>C (p.Arg328Pro) c.1601G>C (p.Arg534Pro) | |
9 | g.137776685G= | CA1884666483 | EHMT1 | c.1859G= (p.Arg620=) c.1745G= (p.Arg582=) c.1766G= (p.Arg589=) c.1899G= (n.1899G=) c.1486G= c.1028G= (p.Arg343=) c.*1594G= (n.*1594G=) c.716G= (p.Arg239=) c.407G= (p.Arg136=) n.1764C= c.1850G= (p.Arg617=) c.1841G= (p.Arg614=) c.1868G= (p.Arg623=) c.1865G= (p.Arg622=) c.1847G= (p.Arg616=) c.1790G= (p.Arg597=) c.1724G= (p.Arg575=) c.290G= (p.Arg97=) c.1703G= (p.Arg568=) c.1838G= (p.Arg613=) c.1844G= (p.Arg615=) c.1760G= (p.Arg587=) c.1688G= (p.Arg563=) c.1622G= (p.Arg541=) c.983G= (p.Arg328=) c.1601G= (p.Arg534=) | |
9 | g.137776685G>T | CA375776037 | EHMT1 | c.1859G>T (p.Arg620Leu) c.1745G>T (p.Arg582Leu) c.1766G>T (p.Arg589Leu) c.1899G>T (n.1899G>T) c.1486G>T c.1028G>T (p.Arg343Leu) c.*1594G>T (n.*1594G>T) c.716G>T (p.Arg239Leu) c.407G>T (p.Arg136Leu) n.1764C>A c.1850G>T (p.Arg617Leu) c.1841G>T (p.Arg614Leu) c.1868G>T (p.Arg623Leu) c.1865G>T (p.Arg622Leu) c.1847G>T (p.Arg616Leu) c.1790G>T (p.Arg597Leu) c.1724G>T (p.Arg575Leu) c.290G>T (p.Arg97Leu) c.1703G>T (p.Arg568Leu) c.1838G>T (p.Arg613Leu) c.1844G>T (p.Arg615Leu) c.1760G>T (p.Arg587Leu) c.1688G>T (p.Arg563Leu) c.1622G>T (p.Arg541Leu) c.983G>T (p.Arg328Leu) c.1601G>T (p.Arg534Leu) | ClinVar |
9 | g.137776686A>C | CA467874067 | EHMT1 | c.1860A>C (p.Arg620=) c.1746A>C (p.Arg582=) c.1767A>C (p.Arg589=) c.1900A>C (n.1900A>C) c.1487A>C c.1029A>C (p.Arg343=) c.*1595A>C (n.*1595A>C) c.717A>C (p.Arg239=) c.408A>C (p.Arg136=) n.1763T>G c.1851A>C (p.Arg617=) c.1842A>C (p.Arg614=) c.1869A>C (p.Arg623=) c.1866A>C (p.Arg622=) c.1848A>C (p.Arg616=) c.1791A>C (p.Arg597=) c.1725A>C (p.Arg575=) c.291A>C (p.Arg97=) c.1704A>C (p.Arg568=) c.1839A>C (p.Arg613=) c.1845A>C (p.Arg615=) c.1761A>C (p.Arg587=) c.1689A>C (p.Arg563=) c.1623A>C (p.Arg541=) c.984A>C (p.Arg328=) c.1602A>C (p.Arg534=) | gnomAD v4 |
9 | g.137776686A>G | CA467874068 | EHMT1 | c.1860A>G (p.Arg620=) c.1746A>G (p.Arg582=) c.1767A>G (p.Arg589=) c.1900A>G (n.1900A>G) c.1487A>G c.1029A>G (p.Arg343=) c.*1595A>G (n.*1595A>G) c.717A>G (p.Arg239=) c.408A>G (p.Arg136=) n.1763T>C c.1851A>G (p.Arg617=) c.1842A>G (p.Arg614=) c.1869A>G (p.Arg623=) c.1866A>G (p.Arg622=) c.1848A>G (p.Arg616=) c.1791A>G (p.Arg597=) c.1725A>G (p.Arg575=) c.291A>G (p.Arg97=) c.1704A>G (p.Arg568=) c.1839A>G (p.Arg613=) c.1845A>G (p.Arg615=) c.1761A>G (p.Arg587=) c.1689A>G (p.Arg563=) c.1623A>G (p.Arg541=) c.984A>G (p.Arg328=) c.1602A>G (p.Arg534=) | |
9 | g.137776686A>T | CA467874069 | EHMT1 | c.1860A>T (p.Arg620=) c.1746A>T (p.Arg582=) c.1767A>T (p.Arg589=) c.1900A>T (n.1900A>T) c.1487A>T c.1029A>T (p.Arg343=) c.*1595A>T (n.*1595A>T) c.717A>T (p.Arg239=) c.408A>T (p.Arg136=) n.1763T>A c.1851A>T (p.Arg617=) c.1842A>T (p.Arg614=) c.1869A>T (p.Arg623=) c.1866A>T (p.Arg622=) c.1848A>T (p.Arg616=) c.1791A>T (p.Arg597=) c.1725A>T (p.Arg575=) c.291A>T (p.Arg97=) c.1704A>T (p.Arg568=) c.1839A>T (p.Arg613=) c.1845A>T (p.Arg615=) c.1761A>T (p.Arg587=) c.1689A>T (p.Arg563=) c.1623A>T (p.Arg541=) c.984A>T (p.Arg328=) c.1602A>T (p.Arg534=) | |
9 | g.137776687G>A | CA375776039 | EHMT1 | c.1861G>A (p.Val621Ile) c.1747G>A (p.Val583Ile) c.1768G>A (p.Val590Ile) c.1901G>A (n.1901G>A) c.1488G>A c.1030G>A (p.Val344Ile) c.*1596G>A (n.*1596G>A) c.718G>A (p.Val240Ile) c.409G>A (p.Val137Ile) n.1762C>T c.1852G>A (p.Val618Ile) c.1843G>A (p.Val615Ile) c.1870G>A (p.Val624Ile) c.1867G>A (p.Val623Ile) c.1849G>A (p.Val617Ile) c.1792G>A (p.Val598Ile) c.1726G>A (p.Val576Ile) c.292G>A (p.Val98Ile) c.1705G>A (p.Val569Ile) c.1840G>A (p.Val614Ile) c.1846G>A (p.Val616Ile) c.1762G>A (p.Val588Ile) c.1690G>A (p.Val564Ile) c.1624G>A (p.Val542Ile) c.985G>A (p.Val329Ile) c.1603G>A (p.Val535Ile) | dbSNP COSMIC COSMIC COSMIC |
9 | g.137776687G>C | CA375776041 | EHMT1 | c.1861G>C (p.Val621Leu) c.1747G>C (p.Val583Leu) c.1768G>C (p.Val590Leu) c.1901G>C (n.1901G>C) c.1488G>C c.1030G>C (p.Val344Leu) c.*1596G>C (n.*1596G>C) c.718G>C (p.Val240Leu) c.409G>C (p.Val137Leu) n.1762C>G c.1852G>C (p.Val618Leu) c.1843G>C (p.Val615Leu) c.1870G>C (p.Val624Leu) c.1867G>C (p.Val623Leu) c.1849G>C (p.Val617Leu) c.1792G>C (p.Val598Leu) c.1726G>C (p.Val576Leu) c.292G>C (p.Val98Leu) c.1705G>C (p.Val569Leu) c.1840G>C (p.Val614Leu) c.1846G>C (p.Val616Leu) c.1762G>C (p.Val588Leu) c.1690G>C (p.Val564Leu) c.1624G>C (p.Val542Leu) c.985G>C (p.Val329Leu) c.1603G>C (p.Val535Leu) | |
9 | g.137776687G= | CA1884666484 | EHMT1 | c.1861G= (p.Val621=) c.1747G= (p.Val583=) c.1768G= (p.Val590=) c.1901G= (n.1901G=) c.1488G= c.1030G= (p.Val344=) c.*1596G= (n.*1596G=) c.718G= (p.Val240=) c.409G= (p.Val137=) n.1762C= c.1852G= (p.Val618=) c.1843G= (p.Val615=) c.1870G= (p.Val624=) c.1867G= (p.Val623=) c.1849G= (p.Val617=) c.1792G= (p.Val598=) c.1726G= (p.Val576=) c.292G= (p.Val98=) c.1705G= (p.Val569=) c.1840G= (p.Val614=) c.1846G= (p.Val616=) c.1762G= (p.Val588=) c.1690G= (p.Val564=) c.1624G= (p.Val542=) c.985G= (p.Val329=) c.1603G= (p.Val535=) | |
9 | g.137776687G>T | CA375776045 | EHMT1 | c.1861G>T (p.Val621Phe) c.1747G>T (p.Val583Phe) c.1768G>T (p.Val590Phe) c.1901G>T (n.1901G>T) c.1488G>T c.1030G>T (p.Val344Phe) c.*1596G>T (n.*1596G>T) c.718G>T (p.Val240Phe) c.409G>T (p.Val137Phe) n.1762C>A c.1852G>T (p.Val618Phe) c.1843G>T (p.Val615Phe) c.1870G>T (p.Val624Phe) c.1867G>T (p.Val623Phe) c.1849G>T (p.Val617Phe) c.1792G>T (p.Val598Phe) c.1726G>T (p.Val576Phe) c.292G>T (p.Val98Phe) c.1705G>T (p.Val569Phe) c.1840G>T (p.Val614Phe) c.1846G>T (p.Val616Phe) c.1762G>T (p.Val588Phe) c.1690G>T (p.Val564Phe) c.1624G>T (p.Val542Phe) c.985G>T (p.Val329Phe) c.1603G>T (p.Val535Phe) | |
9 | g.137776688T>A | CA375776055 | EHMT1 | c.1862T>A (p.Val621Asp) c.1748T>A (p.Val583Asp) c.1769T>A (p.Val590Asp) c.1902T>A (n.1902T>A) c.1489T>A c.1031T>A (p.Val344Asp) c.*1597T>A (n.*1597T>A) c.719T>A (p.Val240Asp) c.410T>A (p.Val137Asp) n.1761A>T c.1853T>A (p.Val618Asp) c.1844T>A (p.Val615Asp) c.1871T>A (p.Val624Asp) c.1868T>A (p.Val623Asp) c.1850T>A (p.Val617Asp) c.1793T>A (p.Val598Asp) c.1727T>A (p.Val576Asp) c.293T>A (p.Val98Asp) c.1706T>A (p.Val569Asp) c.1841T>A (p.Val614Asp) c.1847T>A (p.Val616Asp) c.1763T>A (p.Val588Asp) c.1691T>A (p.Val564Asp) c.1625T>A (p.Val542Asp) c.986T>A (p.Val329Asp) c.1604T>A (p.Val535Asp) | |
9 | g.137776688T>C | CA375776053 | EHMT1 | c.1862T>C (p.Val621Ala) c.1748T>C (p.Val583Ala) c.1769T>C (p.Val590Ala) c.1902T>C (n.1902T>C) c.1489T>C c.1031T>C (p.Val344Ala) c.*1597T>C (n.*1597T>C) c.719T>C (p.Val240Ala) c.410T>C (p.Val137Ala) n.1761A>G c.1853T>C (p.Val618Ala) c.1844T>C (p.Val615Ala) c.1871T>C (p.Val624Ala) c.1868T>C (p.Val623Ala) c.1850T>C (p.Val617Ala) c.1793T>C (p.Val598Ala) c.1727T>C (p.Val576Ala) c.293T>C (p.Val98Ala) c.1706T>C (p.Val569Ala) c.1841T>C (p.Val614Ala) c.1847T>C (p.Val616Ala) c.1763T>C (p.Val588Ala) c.1691T>C (p.Val564Ala) c.1625T>C (p.Val542Ala) c.986T>C (p.Val329Ala) c.1604T>C (p.Val535Ala) | |
9 | g.137776688T>G | CA375776049 | EHMT1 | c.1862T>G (p.Val621Gly) c.1748T>G (p.Val583Gly) c.1769T>G (p.Val590Gly) c.1902T>G (n.1902T>G) c.1489T>G c.1031T>G (p.Val344Gly) c.*1597T>G (n.*1597T>G) c.719T>G (p.Val240Gly) c.410T>G (p.Val137Gly) n.1761A>C c.1853T>G (p.Val618Gly) c.1844T>G (p.Val615Gly) c.1871T>G (p.Val624Gly) c.1868T>G (p.Val623Gly) c.1850T>G (p.Val617Gly) c.1793T>G (p.Val598Gly) c.1727T>G (p.Val576Gly) c.293T>G (p.Val98Gly) c.1706T>G (p.Val569Gly) c.1841T>G (p.Val614Gly) c.1847T>G (p.Val616Gly) c.1763T>G (p.Val588Gly) c.1691T>G (p.Val564Gly) c.1625T>G (p.Val542Gly) c.986T>G (p.Val329Gly) c.1604T>G (p.Val535Gly) | dbSNP |
9 | g.137776688T= | CA1884666485 | EHMT1 | c.1862T= (p.Val621=) c.1748T= (p.Val583=) c.1769T= (p.Val590=) c.1902T= (n.1902T=) c.1489T= c.1031T= (p.Val344=) c.*1597T= (n.*1597T=) c.719T= (p.Val240=) c.410T= (p.Val137=) n.1761A= c.1853T= (p.Val618=) c.1844T= (p.Val615=) c.1871T= (p.Val624=) c.1868T= (p.Val623=) c.1850T= (p.Val617=) c.1793T= (p.Val598=) c.1727T= (p.Val576=) c.293T= (p.Val98=) c.1706T= (p.Val569=) c.1841T= (p.Val614=) c.1847T= (p.Val616=) c.1763T= (p.Val588=) c.1691T= (p.Val564=) c.1625T= (p.Val542=) c.986T= (p.Val329=) c.1604T= (p.Val535=) | |
9 | g.137776689C>A | CA467874070 | EHMT1 | c.1863C>A (p.Val621=) c.1749C>A (p.Val583=) c.1770C>A (p.Val590=) c.1903C>A (n.1903C>A) c.1490C>A c.1032C>A (p.Val344=) c.*1598C>A (n.*1598C>A) c.720C>A (p.Val240=) c.411C>A (p.Val137=) n.1760G>T c.1854C>A (p.Val618=) c.1845C>A (p.Val615=) c.1872C>A (p.Val624=) c.1869C>A (p.Val623=) c.1851C>A (p.Val617=) c.1794C>A (p.Val598=) c.1728C>A (p.Val576=) c.294C>A (p.Val98=) c.1707C>A (p.Val569=) c.1842C>A (p.Val614=) c.1848C>A (p.Val616=) c.1764C>A (p.Val588=) c.1692C>A (p.Val564=) c.1626C>A (p.Val542=) c.987C>A (p.Val329=) c.1605C>A (p.Val535=) | |
9 | g.137776689C>G | CA467874071 | EHMT1 | c.1863C>G (p.Val621=) c.1749C>G (p.Val583=) c.1770C>G (p.Val590=) c.1903C>G (n.1903C>G) c.1490C>G c.1032C>G (p.Val344=) c.*1598C>G (n.*1598C>G) c.720C>G (p.Val240=) c.411C>G (p.Val137=) n.1760G>C c.1854C>G (p.Val618=) c.1845C>G (p.Val615=) c.1872C>G (p.Val624=) c.1869C>G (p.Val623=) c.1851C>G (p.Val617=) c.1794C>G (p.Val598=) c.1728C>G (p.Val576=) c.294C>G (p.Val98=) c.1707C>G (p.Val569=) c.1842C>G (p.Val614=) c.1848C>G (p.Val616=) c.1764C>G (p.Val588=) c.1692C>G (p.Val564=) c.1626C>G (p.Val542=) c.987C>G (p.Val329=) c.1605C>G (p.Val535=) | ClinVar dbSNP |
9 | g.137776689C>T | CA467874072 | EHMT1 | c.1863C>T (p.Val621=) c.1749C>T (p.Val583=) c.1770C>T (p.Val590=) c.1903C>T (n.1903C>T) c.1490C>T c.1032C>T (p.Val344=) c.*1598C>T (n.*1598C>T) c.720C>T (p.Val240=) c.411C>T (p.Val137=) n.1760G>A c.1854C>T (p.Val618=) c.1845C>T (p.Val615=) c.1872C>T (p.Val624=) c.1869C>T (p.Val623=) c.1851C>T (p.Val617=) c.1794C>T (p.Val598=) c.1728C>T (p.Val576=) c.294C>T (p.Val98=) c.1707C>T (p.Val569=) c.1842C>T (p.Val614=) c.1848C>T (p.Val616=) c.1764C>T (p.Val588=) c.1692C>T (p.Val564=) c.1626C>T (p.Val542=) c.987C>T (p.Val329=) c.1605C>T (p.Val535=) | |
9 | g.137776690A= | CA1884666486 | EHMT1 | c.1864A= (p.Asn622=) c.1750A= (p.Asn584=) c.1771A= (p.Asn591=) c.1904A= (n.1904A=) c.1491A= c.1033A= (p.Asn345=) c.*1599A= (n.*1599A=) c.721A= (p.Asn241=) c.412A= (p.Asn138=) n.1759T= c.1855A= (p.Asn619=) c.1846A= (p.Asn616=) c.1873A= (p.Asn625=) c.1870A= (p.Asn624=) c.1852A= (p.Asn618=) c.1795A= (p.Asn599=) c.1729A= (p.Asn577=) c.295A= (p.Asn99=) c.1708A= (p.Asn570=) c.1843A= (p.Asn615=) c.1849A= (p.Asn617=) c.1765A= (p.Asn589=) c.1693A= (p.Asn565=) c.1627A= (p.Asn543=) c.988A= (p.Asn330=) c.1606A= (p.Asn536=) | |
9 | g.137776690A>C | CA5374750 | EHMT1 | c.1864A>C (p.Asn622His) c.1750A>C (p.Asn584His) c.1771A>C (p.Asn591His) c.1904A>C (n.1904A>C) c.1491A>C c.1033A>C (p.Asn345His) c.*1599A>C (n.*1599A>C) c.721A>C (p.Asn241His) c.412A>C (p.Asn138His) n.1759T>G c.1855A>C (p.Asn619His) c.1846A>C (p.Asn616His) c.1873A>C (p.Asn625His) c.1870A>C (p.Asn624His) c.1852A>C (p.Asn618His) c.1795A>C (p.Asn599His) c.1729A>C (p.Asn577His) c.295A>C (p.Asn99His) c.1708A>C (p.Asn570His) c.1843A>C (p.Asn615His) c.1849A>C (p.Asn617His) c.1765A>C (p.Asn589His) c.1693A>C (p.Asn565His) c.1627A>C (p.Asn543His) c.988A>C (p.Asn330His) c.1606A>C (p.Asn536His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137776690A>G | CA375776062 | EHMT1 | c.1864A>G (p.Asn622Asp) c.1750A>G (p.Asn584Asp) c.1771A>G (p.Asn591Asp) c.1904A>G (n.1904A>G) c.1491A>G c.1033A>G (p.Asn345Asp) c.*1599A>G (n.*1599A>G) c.721A>G (p.Asn241Asp) c.412A>G (p.Asn138Asp) n.1759T>C c.1855A>G (p.Asn619Asp) c.1846A>G (p.Asn616Asp) c.1873A>G (p.Asn625Asp) c.1870A>G (p.Asn624Asp) c.1852A>G (p.Asn618Asp) c.1795A>G (p.Asn599Asp) c.1729A>G (p.Asn577Asp) c.295A>G (p.Asn99Asp) c.1708A>G (p.Asn570Asp) c.1843A>G (p.Asn615Asp) c.1849A>G (p.Asn617Asp) c.1765A>G (p.Asn589Asp) c.1693A>G (p.Asn565Asp) c.1627A>G (p.Asn543Asp) c.988A>G (p.Asn330Asp) c.1606A>G (p.Asn536Asp) | ClinVar |
9 | g.137776690A>T | CA375776064 | EHMT1 | c.1864A>T (p.Asn622Tyr) c.1750A>T (p.Asn584Tyr) c.1771A>T (p.Asn591Tyr) c.1904A>T (n.1904A>T) c.1491A>T c.1033A>T (p.Asn345Tyr) c.*1599A>T (n.*1599A>T) c.721A>T (p.Asn241Tyr) c.412A>T (p.Asn138Tyr) n.1759T>A c.1855A>T (p.Asn619Tyr) c.1846A>T (p.Asn616Tyr) c.1873A>T (p.Asn625Tyr) c.1870A>T (p.Asn624Tyr) c.1852A>T (p.Asn618Tyr) c.1795A>T (p.Asn599Tyr) c.1729A>T (p.Asn577Tyr) c.295A>T (p.Asn99Tyr) c.1708A>T (p.Asn570Tyr) c.1843A>T (p.Asn615Tyr) c.1849A>T (p.Asn617Tyr) c.1765A>T (p.Asn589Tyr) c.1693A>T (p.Asn565Tyr) c.1627A>T (p.Asn543Tyr) c.988A>T (p.Asn330Tyr) c.1606A>T (p.Asn536Tyr) | |
9 | g.137776691A= | CA1884666487 | EHMT1 | c.1865A= (p.Asn622=) c.1751A= (p.Asn584=) c.1772A= (p.Asn591=) c.1905A= (n.1905A=) c.1492A= c.1034A= (p.Asn345=) c.*1600A= (n.*1600A=) c.722A= (p.Asn241=) c.413A= (p.Asn138=) n.1758T= c.1856A= (p.Asn619=) c.1847A= (p.Asn616=) c.1874A= (p.Asn625=) c.1871A= (p.Asn624=) c.1853A= (p.Asn618=) c.1796A= (p.Asn599=) c.1730A= (p.Asn577=) c.296A= (p.Asn99=) c.1709A= (p.Asn570=) c.1844A= (p.Asn615=) c.1850A= (p.Asn617=) c.1766A= (p.Asn589=) c.1694A= (p.Asn565=) c.1628A= (p.Asn543=) c.989A= (p.Asn330=) c.1607A= (p.Asn536=) | |
9 | g.137776691A>C | CA375776072 | EHMT1 | c.1865A>C (p.Asn622Thr) c.1751A>C (p.Asn584Thr) c.1772A>C (p.Asn591Thr) c.1905A>C (n.1905A>C) c.1492A>C c.1034A>C (p.Asn345Thr) c.*1600A>C (n.*1600A>C) c.722A>C (p.Asn241Thr) c.413A>C (p.Asn138Thr) n.1758T>G c.1856A>C (p.Asn619Thr) c.1847A>C (p.Asn616Thr) c.1874A>C (p.Asn625Thr) c.1871A>C (p.Asn624Thr) c.1853A>C (p.Asn618Thr) c.1796A>C (p.Asn599Thr) c.1730A>C (p.Asn577Thr) c.296A>C (p.Asn99Thr) c.1709A>C (p.Asn570Thr) c.1844A>C (p.Asn615Thr) c.1850A>C (p.Asn617Thr) c.1766A>C (p.Asn589Thr) c.1694A>C (p.Asn565Thr) c.1628A>C (p.Asn543Thr) c.989A>C (p.Asn330Thr) c.1607A>C (p.Asn536Thr) | |
9 | g.137776691A>G | CA231083 | EHMT1 | c.1865A>G (p.Asn622Ser) c.1751A>G (p.Asn584Ser) c.1772A>G (p.Asn591Ser) c.1905A>G (n.1905A>G) c.1492A>G c.1034A>G (p.Asn345Ser) c.*1600A>G (n.*1600A>G) c.722A>G (p.Asn241Ser) c.413A>G (p.Asn138Ser) n.1758T>C c.1856A>G (p.Asn619Ser) c.1847A>G (p.Asn616Ser) c.1874A>G (p.Asn625Ser) c.1871A>G (p.Asn624Ser) c.1853A>G (p.Asn618Ser) c.1796A>G (p.Asn599Ser) c.1730A>G (p.Asn577Ser) c.296A>G (p.Asn99Ser) c.1709A>G (p.Asn570Ser) c.1844A>G (p.Asn615Ser) c.1850A>G (p.Asn617Ser) c.1766A>G (p.Asn589Ser) c.1694A>G (p.Asn565Ser) c.1628A>G (p.Asn543Ser) c.989A>G (p.Asn330Ser) c.1607A>G (p.Asn536Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776691A>T | CA375776078 | EHMT1 | c.1865A>T (p.Asn622Ile) c.1751A>T (p.Asn584Ile) c.1772A>T (p.Asn591Ile) c.1905A>T (n.1905A>T) c.1492A>T c.1034A>T (p.Asn345Ile) c.*1600A>T (n.*1600A>T) c.722A>T (p.Asn241Ile) c.413A>T (p.Asn138Ile) n.1758T>A c.1856A>T (p.Asn619Ile) c.1847A>T (p.Asn616Ile) c.1874A>T (p.Asn625Ile) c.1871A>T (p.Asn624Ile) c.1853A>T (p.Asn618Ile) c.1796A>T (p.Asn599Ile) c.1730A>T (p.Asn577Ile) c.296A>T (p.Asn99Ile) c.1709A>T (p.Asn570Ile) c.1844A>T (p.Asn615Ile) c.1850A>T (p.Asn617Ile) c.1766A>T (p.Asn589Ile) c.1694A>T (p.Asn565Ile) c.1628A>T (p.Asn543Ile) c.989A>T (p.Asn330Ile) c.1607A>T (p.Asn536Ile) | |
9 | g.137776692T>A | CA375776085 | EHMT1 | c.1866T>A (p.Asn622Lys) c.1752T>A (p.Asn584Lys) c.1773T>A (p.Asn591Lys) c.1906T>A (n.1906T>A) c.1493T>A c.1035T>A (p.Asn345Lys) c.*1601T>A (n.*1601T>A) c.723T>A (p.Asn241Lys) c.414T>A (p.Asn138Lys) n.1757A>T c.1857T>A (p.Asn619Lys) c.1848T>A (p.Asn616Lys) c.1875T>A (p.Asn625Lys) c.1872T>A (p.Asn624Lys) c.1854T>A (p.Asn618Lys) c.1797T>A (p.Asn599Lys) c.1731T>A (p.Asn577Lys) c.297T>A (p.Asn99Lys) c.1710T>A (p.Asn570Lys) c.1845T>A (p.Asn615Lys) c.1851T>A (p.Asn617Lys) c.1767T>A (p.Asn589Lys) c.1695T>A (p.Asn565Lys) c.1629T>A (p.Asn543Lys) c.990T>A (p.Asn330Lys) c.1608T>A (p.Asn536Lys) | |
9 | g.137776692T>C | CA467874073 | EHMT1 | c.1866T>C (p.Asn622=) c.1752T>C (p.Asn584=) c.1773T>C (p.Asn591=) c.1906T>C (n.1906T>C) c.1493T>C c.1035T>C (p.Asn345=) c.*1601T>C (n.*1601T>C) c.723T>C (p.Asn241=) c.414T>C (p.Asn138=) n.1757A>G c.1857T>C (p.Asn619=) c.1848T>C (p.Asn616=) c.1875T>C (p.Asn625=) c.1872T>C (p.Asn624=) c.1854T>C (p.Asn618=) c.1797T>C (p.Asn599=) c.1731T>C (p.Asn577=) c.297T>C (p.Asn99=) c.1710T>C (p.Asn570=) c.1845T>C (p.Asn615=) c.1851T>C (p.Asn617=) c.1767T>C (p.Asn589=) c.1695T>C (p.Asn565=) c.1629T>C (p.Asn543=) c.990T>C (p.Asn330=) c.1608T>C (p.Asn536=) | |
9 | g.137776692T>G | CA375776082 | EHMT1 | c.1866T>G (p.Asn622Lys) c.1752T>G (p.Asn584Lys) c.1773T>G (p.Asn591Lys) c.1906T>G (n.1906T>G) c.1493T>G c.1035T>G (p.Asn345Lys) c.*1601T>G (n.*1601T>G) c.723T>G (p.Asn241Lys) c.414T>G (p.Asn138Lys) n.1757A>C c.1857T>G (p.Asn619Lys) c.1848T>G (p.Asn616Lys) c.1875T>G (p.Asn625Lys) c.1872T>G (p.Asn624Lys) c.1854T>G (p.Asn618Lys) c.1797T>G (p.Asn599Lys) c.1731T>G (p.Asn577Lys) c.297T>G (p.Asn99Lys) c.1710T>G (p.Asn570Lys) c.1845T>G (p.Asn615Lys) c.1851T>G (p.Asn617Lys) c.1767T>G (p.Asn589Lys) c.1695T>G (p.Asn565Lys) c.1629T>G (p.Asn543Lys) c.990T>G (p.Asn330Lys) c.1608T>G (p.Asn536Lys) | gnomAD v4 |
9 | g.137776693A= | CA1884666488 | EHMT1 | c.1867A= (p.Asn623=) c.1753A= (p.Asn585=) c.1774A= (p.Asn592=) c.1907A= (n.1907A=) c.1494A= c.1036A= (p.Asn346=) c.*1602A= (n.*1602A=) c.724A= (p.Asn242=) c.415A= (p.Asn139=) n.1756T= c.1858A= (p.Asn620=) c.1849A= (p.Asn617=) c.1876A= (p.Asn626=) c.1873A= (p.Asn625=) c.1855A= (p.Asn619=) c.1798A= (p.Asn600=) c.1732A= (p.Asn578=) c.298A= (p.Asn100=) c.1711A= (p.Asn571=) c.1846A= (p.Asn616=) c.1852A= (p.Asn618=) c.1768A= (p.Asn590=) c.1696A= (p.Asn566=) c.1630A= (p.Asn544=) c.991A= (p.Asn331=) c.1609A= (p.Asn537=) | |
9 | g.137776693A>C | CA375776089 | EHMT1 | c.1867A>C (p.Asn623His) c.1753A>C (p.Asn585His) c.1774A>C (p.Asn592His) c.1907A>C (n.1907A>C) c.1494A>C c.1036A>C (p.Asn346His) c.*1602A>C (n.*1602A>C) c.724A>C (p.Asn242His) c.415A>C (p.Asn139His) n.1756T>G c.1858A>C (p.Asn620His) c.1849A>C (p.Asn617His) c.1876A>C (p.Asn626His) c.1873A>C (p.Asn625His) c.1855A>C (p.Asn619His) c.1798A>C (p.Asn600His) c.1732A>C (p.Asn578His) c.298A>C (p.Asn100His) c.1711A>C (p.Asn571His) c.1846A>C (p.Asn616His) c.1852A>C (p.Asn618His) c.1768A>C (p.Asn590His) c.1696A>C (p.Asn566His) c.1630A>C (p.Asn544His) c.991A>C (p.Asn331His) c.1609A>C (p.Asn537His) | |
9 | g.137776693A>G | CA375776090 | EHMT1 | c.1867A>G (p.Asn623Asp) c.1753A>G (p.Asn585Asp) c.1774A>G (p.Asn592Asp) c.1907A>G (n.1907A>G) c.1494A>G c.1036A>G (p.Asn346Asp) c.*1602A>G (n.*1602A>G) c.724A>G (p.Asn242Asp) c.415A>G (p.Asn139Asp) n.1756T>C c.1858A>G (p.Asn620Asp) c.1849A>G (p.Asn617Asp) c.1876A>G (p.Asn626Asp) c.1873A>G (p.Asn625Asp) c.1855A>G (p.Asn619Asp) c.1798A>G (p.Asn600Asp) c.1732A>G (p.Asn578Asp) c.298A>G (p.Asn100Asp) c.1711A>G (p.Asn571Asp) c.1846A>G (p.Asn616Asp) c.1852A>G (p.Asn618Asp) c.1768A>G (p.Asn590Asp) c.1696A>G (p.Asn566Asp) c.1630A>G (p.Asn544Asp) c.991A>G (p.Asn331Asp) c.1609A>G (p.Asn537Asp) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137776693A>T | CA375776094 | EHMT1 | c.1867A>T (p.Asn623Tyr) c.1753A>T (p.Asn585Tyr) c.1774A>T (p.Asn592Tyr) c.1907A>T (n.1907A>T) c.1494A>T c.1036A>T (p.Asn346Tyr) c.*1602A>T (n.*1602A>T) c.724A>T (p.Asn242Tyr) c.415A>T (p.Asn139Tyr) n.1756T>A c.1858A>T (p.Asn620Tyr) c.1849A>T (p.Asn617Tyr) c.1876A>T (p.Asn626Tyr) c.1873A>T (p.Asn625Tyr) c.1855A>T (p.Asn619Tyr) c.1798A>T (p.Asn600Tyr) c.1732A>T (p.Asn578Tyr) c.298A>T (p.Asn100Tyr) c.1711A>T (p.Asn571Tyr) c.1846A>T (p.Asn616Tyr) c.1852A>T (p.Asn618Tyr) c.1768A>T (p.Asn590Tyr) c.1696A>T (p.Asn566Tyr) c.1630A>T (p.Asn544Tyr) c.991A>T (p.Asn331Tyr) c.1609A>T (p.Asn537Tyr) | |
9 | g.137776694A>C | CA375776096 | EHMT1 | c.1868A>C (p.Asn623Thr) c.1754A>C (p.Asn585Thr) c.1775A>C (p.Asn592Thr) c.1908A>C (n.1908A>C) c.1495A>C c.1037A>C (p.Asn346Thr) c.*1603A>C (n.*1603A>C) c.725A>C (p.Asn242Thr) c.416A>C (p.Asn139Thr) n.1755T>G c.1859A>C (p.Asn620Thr) c.1850A>C (p.Asn617Thr) c.1877A>C (p.Asn626Thr) c.1874A>C (p.Asn625Thr) c.1856A>C (p.Asn619Thr) c.1799A>C (p.Asn600Thr) c.1733A>C (p.Asn578Thr) c.299A>C (p.Asn100Thr) c.1712A>C (p.Asn571Thr) c.1847A>C (p.Asn616Thr) c.1853A>C (p.Asn618Thr) c.1769A>C (p.Asn590Thr) c.1697A>C (p.Asn566Thr) c.1631A>C (p.Asn544Thr) c.992A>C (p.Asn331Thr) c.1610A>C (p.Asn537Thr) | |
9 | g.137776694A>G | CA375776098 | EHMT1 | c.1868A>G (p.Asn623Ser) c.1754A>G (p.Asn585Ser) c.1775A>G (p.Asn592Ser) c.1908A>G (n.1908A>G) c.1495A>G c.1037A>G (p.Asn346Ser) c.*1603A>G (n.*1603A>G) c.725A>G (p.Asn242Ser) c.416A>G (p.Asn139Ser) n.1755T>C c.1859A>G (p.Asn620Ser) c.1850A>G (p.Asn617Ser) c.1877A>G (p.Asn626Ser) c.1874A>G (p.Asn625Ser) c.1856A>G (p.Asn619Ser) c.1799A>G (p.Asn600Ser) c.1733A>G (p.Asn578Ser) c.299A>G (p.Asn100Ser) c.1712A>G (p.Asn571Ser) c.1847A>G (p.Asn616Ser) c.1853A>G (p.Asn618Ser) c.1769A>G (p.Asn590Ser) c.1697A>G (p.Asn566Ser) c.1631A>G (p.Asn544Ser) c.992A>G (p.Asn331Ser) c.1610A>G (p.Asn537Ser) | |
9 | g.137776694A>T | CA375776101 | EHMT1 | c.1868A>T (p.Asn623Ile) c.1754A>T (p.Asn585Ile) c.1775A>T (p.Asn592Ile) c.1908A>T (n.1908A>T) c.1495A>T c.1037A>T (p.Asn346Ile) c.*1603A>T (n.*1603A>T) c.725A>T (p.Asn242Ile) c.416A>T (p.Asn139Ile) n.1755T>A c.1859A>T (p.Asn620Ile) c.1850A>T (p.Asn617Ile) c.1877A>T (p.Asn626Ile) c.1874A>T (p.Asn625Ile) c.1856A>T (p.Asn619Ile) c.1799A>T (p.Asn600Ile) c.1733A>T (p.Asn578Ile) c.299A>T (p.Asn100Ile) c.1712A>T (p.Asn571Ile) c.1847A>T (p.Asn616Ile) c.1853A>T (p.Asn618Ile) c.1769A>T (p.Asn590Ile) c.1697A>T (p.Asn566Ile) c.1631A>T (p.Asn544Ile) c.992A>T (p.Asn331Ile) c.1610A>T (p.Asn537Ile) | |
9 | g.137776695C>A | CA375776105 | EHMT1 | c.1869C>A (p.Asn623Lys) c.1755C>A (p.Asn585Lys) c.1776C>A (p.Asn592Lys) c.1909C>A (n.1909C>A) c.1496C>A c.1038C>A (p.Asn346Lys) c.*1604C>A (n.*1604C>A) c.726C>A (p.Asn242Lys) c.417C>A (p.Asn139Lys) n.1754G>T c.1860C>A (p.Asn620Lys) c.1851C>A (p.Asn617Lys) c.1878C>A (p.Asn626Lys) c.1875C>A (p.Asn625Lys) c.1857C>A (p.Asn619Lys) c.1800C>A (p.Asn600Lys) c.1734C>A (p.Asn578Lys) c.300C>A (p.Asn100Lys) c.1713C>A (p.Asn571Lys) c.1848C>A (p.Asn616Lys) c.1854C>A (p.Asn618Lys) c.1770C>A (p.Asn590Lys) c.1698C>A (p.Asn566Lys) c.1632C>A (p.Asn544Lys) c.993C>A (p.Asn331Lys) c.1611C>A (p.Asn537Lys) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137776695C= | CA1884666489 | EHMT1 | c.1869C= (p.Asn623=) c.1755C= (p.Asn585=) c.1776C= (p.Asn592=) c.1909C= (n.1909C=) c.1496C= c.1038C= (p.Asn346=) c.*1604C= (n.*1604C=) c.726C= (p.Asn242=) c.417C= (p.Asn139=) n.1754G= c.1860C= (p.Asn620=) c.1851C= (p.Asn617=) c.1878C= (p.Asn626=) c.1875C= (p.Asn625=) c.1857C= (p.Asn619=) c.1800C= (p.Asn600=) c.1734C= (p.Asn578=) c.300C= (p.Asn100=) c.1713C= (p.Asn571=) c.1848C= (p.Asn616=) c.1854C= (p.Asn618=) c.1770C= (p.Asn590=) c.1698C= (p.Asn566=) c.1632C= (p.Asn544=) c.993C= (p.Asn331=) c.1611C= (p.Asn537=) | |
9 | g.137776695C>G | CA375776109 | EHMT1 | c.1869C>G (p.Asn623Lys) c.1755C>G (p.Asn585Lys) c.1776C>G (p.Asn592Lys) c.1909C>G (n.1909C>G) c.1496C>G c.1038C>G (p.Asn346Lys) c.*1604C>G (n.*1604C>G) c.726C>G (p.Asn242Lys) c.417C>G (p.Asn139Lys) n.1754G>C c.1860C>G (p.Asn620Lys) c.1851C>G (p.Asn617Lys) c.1878C>G (p.Asn626Lys) c.1875C>G (p.Asn625Lys) c.1857C>G (p.Asn619Lys) c.1800C>G (p.Asn600Lys) c.1734C>G (p.Asn578Lys) c.300C>G (p.Asn100Lys) c.1713C>G (p.Asn571Lys) c.1848C>G (p.Asn616Lys) c.1854C>G (p.Asn618Lys) c.1770C>G (p.Asn590Lys) c.1698C>G (p.Asn566Lys) c.1632C>G (p.Asn544Lys) c.993C>G (p.Asn331Lys) c.1611C>G (p.Asn537Lys) | |
9 | g.137776695C>T | CA149293 | EHMT1 | c.1869C>T (p.Asn623=) c.1755C>T (p.Asn585=) c.1776C>T (p.Asn592=) c.1909C>T (n.1909C>T) c.1496C>T c.1038C>T (p.Asn346=) c.*1604C>T (n.*1604C>T) c.726C>T (p.Asn242=) c.417C>T (p.Asn139=) n.1754G>A c.1860C>T (p.Asn620=) c.1851C>T (p.Asn617=) c.1878C>T (p.Asn626=) c.1875C>T (p.Asn625=) c.1857C>T (p.Asn619=) c.1800C>T (p.Asn600=) c.1734C>T (p.Asn578=) c.300C>T (p.Asn100=) c.1713C>T (p.Asn571=) c.1848C>T (p.Asn616=) c.1854C>T (p.Asn618=) c.1770C>T (p.Asn590=) c.1698C>T (p.Asn566=) c.1632C>T (p.Asn544=) c.993C>T (p.Asn331=) c.1611C>T (p.Asn537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776696G>A | CA5374752 | EHMT1 | c.1870G>A (p.Ala624Thr) c.1756G>A (p.Ala586Thr) c.1777G>A (p.Ala593Thr) c.1910G>A (n.1910G>A) c.1497G>A c.1039G>A (p.Ala347Thr) c.*1605G>A (n.*1605G>A) c.727G>A (p.Ala243Thr) c.418G>A (p.Ala140Thr) n.1753C>T c.1861G>A (p.Ala621Thr) c.1852G>A (p.Ala618Thr) c.1879G>A (p.Ala627Thr) c.1876G>A (p.Ala626Thr) c.1858G>A (p.Ala620Thr) c.1801G>A (p.Ala601Thr) c.1735G>A (p.Ala579Thr) c.301G>A (p.Ala101Thr) c.1714G>A (p.Ala572Thr) c.1849G>A (p.Ala617Thr) c.1855G>A (p.Ala619Thr) c.1771G>A (p.Ala591Thr) c.1699G>A (p.Ala567Thr) c.1633G>A (p.Ala545Thr) c.994G>A (p.Ala332Thr) c.1612G>A (p.Ala538Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.137776696G>C | CA375776110 | EHMT1 | c.1870G>C (p.Ala624Pro) c.1756G>C (p.Ala586Pro) c.1777G>C (p.Ala593Pro) c.1910G>C (n.1910G>C) c.1497G>C c.1039G>C (p.Ala347Pro) c.*1605G>C (n.*1605G>C) c.727G>C (p.Ala243Pro) c.418G>C (p.Ala140Pro) n.1753C>G c.1861G>C (p.Ala621Pro) c.1852G>C (p.Ala618Pro) c.1879G>C (p.Ala627Pro) c.1876G>C (p.Ala626Pro) c.1858G>C (p.Ala620Pro) c.1801G>C (p.Ala601Pro) c.1735G>C (p.Ala579Pro) c.301G>C (p.Ala101Pro) c.1714G>C (p.Ala572Pro) c.1849G>C (p.Ala617Pro) c.1855G>C (p.Ala619Pro) c.1771G>C (p.Ala591Pro) c.1699G>C (p.Ala567Pro) c.1633G>C (p.Ala545Pro) c.994G>C (p.Ala332Pro) c.1612G>C (p.Ala538Pro) | gnomAD v4 |
9 | g.137776696G= | CA1884666490 | EHMT1 | c.1870G= (p.Ala624=) c.1756G= (p.Ala586=) c.1777G= (p.Ala593=) c.1910G= (n.1910G=) c.1497G= c.1039G= (p.Ala347=) c.*1605G= (n.*1605G=) c.727G= (p.Ala243=) c.418G= (p.Ala140=) n.1753C= c.1861G= (p.Ala621=) c.1852G= (p.Ala618=) c.1879G= (p.Ala627=) c.1876G= (p.Ala626=) c.1858G= (p.Ala620=) c.1801G= (p.Ala601=) c.1735G= (p.Ala579=) c.301G= (p.Ala101=) c.1714G= (p.Ala572=) c.1849G= (p.Ala617=) c.1855G= (p.Ala619=) c.1771G= (p.Ala591=) c.1699G= (p.Ala567=) c.1633G= (p.Ala545=) c.994G= (p.Ala332=) c.1612G= (p.Ala538=) | |
9 | g.137776696G>T | CA5374751 | EHMT1 | c.1870G>T (p.Ala624Ser) c.1756G>T (p.Ala586Ser) c.1777G>T (p.Ala593Ser) c.1910G>T (n.1910G>T) c.1497G>T c.1039G>T (p.Ala347Ser) c.*1605G>T (n.*1605G>T) c.727G>T (p.Ala243Ser) c.418G>T (p.Ala140Ser) n.1753C>A c.1861G>T (p.Ala621Ser) c.1852G>T (p.Ala618Ser) c.1879G>T (p.Ala627Ser) c.1876G>T (p.Ala626Ser) c.1858G>T (p.Ala620Ser) c.1801G>T (p.Ala601Ser) c.1735G>T (p.Ala579Ser) c.301G>T (p.Ala101Ser) c.1714G>T (p.Ala572Ser) c.1849G>T (p.Ala617Ser) c.1855G>T (p.Ala619Ser) c.1771G>T (p.Ala591Ser) c.1699G>T (p.Ala567Ser) c.1633G>T (p.Ala545Ser) c.994G>T (p.Ala332Ser) c.1612G>T (p.Ala538Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776697C>A | CA375776112 | EHMT1 | c.1871C>A (p.Ala624Asp) c.1757C>A (p.Ala586Asp) c.1778C>A (p.Ala593Asp) c.1911C>A (n.1911C>A) c.1498C>A c.1040C>A (p.Ala347Asp) c.*1606C>A (n.*1606C>A) c.728C>A (p.Ala243Asp) c.419C>A (p.Ala140Asp) n.1752G>T c.1862C>A (p.Ala621Asp) c.1853C>A (p.Ala618Asp) c.1880C>A (p.Ala627Asp) c.1877C>A (p.Ala626Asp) c.1859C>A (p.Ala620Asp) c.1802C>A (p.Ala601Asp) c.1736C>A (p.Ala579Asp) c.302C>A (p.Ala101Asp) c.1715C>A (p.Ala572Asp) c.1850C>A (p.Ala617Asp) c.1856C>A (p.Ala619Asp) c.1772C>A (p.Ala591Asp) c.1700C>A (p.Ala567Asp) c.1634C>A (p.Ala545Asp) c.995C>A (p.Ala332Asp) c.1613C>A (p.Ala538Asp) | |
9 | g.137776697C>G | CA375776115 | EHMT1 | c.1871C>G (p.Ala624Gly) c.1757C>G (p.Ala586Gly) c.1778C>G (p.Ala593Gly) c.1911C>G (n.1911C>G) c.1498C>G c.1040C>G (p.Ala347Gly) c.*1606C>G (n.*1606C>G) c.728C>G (p.Ala243Gly) c.419C>G (p.Ala140Gly) n.1752G>C c.1862C>G (p.Ala621Gly) c.1853C>G (p.Ala618Gly) c.1880C>G (p.Ala627Gly) c.1877C>G (p.Ala626Gly) c.1859C>G (p.Ala620Gly) c.1802C>G (p.Ala601Gly) c.1736C>G (p.Ala579Gly) c.302C>G (p.Ala101Gly) c.1715C>G (p.Ala572Gly) c.1850C>G (p.Ala617Gly) c.1856C>G (p.Ala619Gly) c.1772C>G (p.Ala591Gly) c.1700C>G (p.Ala567Gly) c.1634C>G (p.Ala545Gly) c.995C>G (p.Ala332Gly) c.1613C>G (p.Ala538Gly) | |
9 | g.137776697C>T | CA375776117 | EHMT1 | c.1871C>T (p.Ala624Val) c.1757C>T (p.Ala586Val) c.1778C>T (p.Ala593Val) c.1911C>T (n.1911C>T) c.1498C>T c.1040C>T (p.Ala347Val) c.*1606C>T (n.*1606C>T) c.728C>T (p.Ala243Val) c.419C>T (p.Ala140Val) n.1752G>A c.1862C>T (p.Ala621Val) c.1853C>T (p.Ala618Val) c.1880C>T (p.Ala627Val) c.1877C>T (p.Ala626Val) c.1859C>T (p.Ala620Val) c.1802C>T (p.Ala601Val) c.1736C>T (p.Ala579Val) c.302C>T (p.Ala101Val) c.1715C>T (p.Ala572Val) c.1850C>T (p.Ala617Val) c.1856C>T (p.Ala619Val) c.1772C>T (p.Ala591Val) c.1700C>T (p.Ala567Val) c.1634C>T (p.Ala545Val) c.995C>T (p.Ala332Val) c.1613C>T (p.Ala538Val) | dbSNP |
9 | g.137776698C>A | CA467874074 | EHMT1 | c.1872C>A (p.Ala624=) c.1758C>A (p.Ala586=) c.1779C>A (p.Ala593=) c.1912C>A (n.1912C>A) c.1499C>A c.1041C>A (p.Ala347=) c.*1607C>A (n.*1607C>A) c.729C>A (p.Ala243=) c.420C>A (p.Ala140=) n.1751G>T c.1863C>A (p.Ala621=) c.1854C>A (p.Ala618=) c.1881C>A (p.Ala627=) c.1878C>A (p.Ala626=) c.1860C>A (p.Ala620=) c.1803C>A (p.Ala601=) c.1737C>A (p.Ala579=) c.303C>A (p.Ala101=) c.1716C>A (p.Ala572=) c.1851C>A (p.Ala617=) c.1857C>A (p.Ala619=) c.1773C>A (p.Ala591=) c.1701C>A (p.Ala567=) c.1635C>A (p.Ala545=) c.996C>A (p.Ala332=) c.1614C>A (p.Ala538=) | |
9 | g.137776698C>G | CA467874076 | EHMT1 | c.1872C>G (p.Ala624=) c.1758C>G (p.Ala586=) c.1779C>G (p.Ala593=) c.1912C>G (n.1912C>G) c.1499C>G c.1041C>G (p.Ala347=) c.*1607C>G (n.*1607C>G) c.729C>G (p.Ala243=) c.420C>G (p.Ala140=) n.1751G>C c.1863C>G (p.Ala621=) c.1854C>G (p.Ala618=) c.1881C>G (p.Ala627=) c.1878C>G (p.Ala626=) c.1860C>G (p.Ala620=) c.1803C>G (p.Ala601=) c.1737C>G (p.Ala579=) c.303C>G (p.Ala101=) c.1716C>G (p.Ala572=) c.1851C>G (p.Ala617=) c.1857C>G (p.Ala619=) c.1773C>G (p.Ala591=) c.1701C>G (p.Ala567=) c.1635C>G (p.Ala545=) c.996C>G (p.Ala332=) c.1614C>G (p.Ala538=) | |
9 | g.137776698C>T | CA467874075 | EHMT1 | c.1872C>T (p.Ala624=) c.1758C>T (p.Ala586=) c.1779C>T (p.Ala593=) c.1912C>T (n.1912C>T) c.1499C>T c.1041C>T (p.Ala347=) c.*1607C>T (n.*1607C>T) c.729C>T (p.Ala243=) c.420C>T (p.Ala140=) n.1751G>A c.1863C>T (p.Ala621=) c.1854C>T (p.Ala618=) c.1881C>T (p.Ala627=) c.1878C>T (p.Ala626=) c.1860C>T (p.Ala620=) c.1803C>T (p.Ala601=) c.1737C>T (p.Ala579=) c.303C>T (p.Ala101=) c.1716C>T (p.Ala572=) c.1851C>T (p.Ala617=) c.1857C>T (p.Ala619=) c.1773C>T (p.Ala591=) c.1701C>T (p.Ala567=) c.1635C>T (p.Ala545=) c.996C>T (p.Ala332=) c.1614C>T (p.Ala538=) | ClinVar gnomAD v4 |
9 | g.137776699A>C | CA375776118 | EHMT1 | c.1873A>C (p.Ser625Arg) c.1759A>C (p.Ser587Arg) c.1780A>C (p.Ser594Arg) c.1913A>C (n.1913A>C) c.1500A>C c.1042A>C (p.Ser348Arg) c.*1608A>C (n.*1608A>C) c.730A>C (p.Ser244Arg) c.421A>C (p.Ser141Arg) n.1750T>G c.1864A>C (p.Ser622Arg) c.1855A>C (p.Ser619Arg) c.1882A>C (p.Ser628Arg) c.1879A>C (p.Ser627Arg) c.1861A>C (p.Ser621Arg) c.1804A>C (p.Ser602Arg) c.1738A>C (p.Ser580Arg) c.304A>C (p.Ser102Arg) c.1717A>C (p.Ser573Arg) c.1852A>C (p.Ser618Arg) c.1858A>C (p.Ser620Arg) c.1774A>C (p.Ser592Arg) c.1702A>C (p.Ser568Arg) c.1636A>C (p.Ser546Arg) c.997A>C (p.Ser333Arg) c.1615A>C (p.Ser539Arg) | |
9 | g.137776699A>G | CA375776119 | EHMT1 | c.1873A>G (p.Ser625Gly) c.1759A>G (p.Ser587Gly) c.1780A>G (p.Ser594Gly) c.1913A>G (n.1913A>G) c.1500A>G c.1042A>G (p.Ser348Gly) c.*1608A>G (n.*1608A>G) c.730A>G (p.Ser244Gly) c.421A>G (p.Ser141Gly) n.1750T>C c.1864A>G (p.Ser622Gly) c.1855A>G (p.Ser619Gly) c.1882A>G (p.Ser628Gly) c.1879A>G (p.Ser627Gly) c.1861A>G (p.Ser621Gly) c.1804A>G (p.Ser602Gly) c.1738A>G (p.Ser580Gly) c.304A>G (p.Ser102Gly) c.1717A>G (p.Ser573Gly) c.1852A>G (p.Ser618Gly) c.1858A>G (p.Ser620Gly) c.1774A>G (p.Ser592Gly) c.1702A>G (p.Ser568Gly) c.1636A>G (p.Ser546Gly) c.997A>G (p.Ser333Gly) c.1615A>G (p.Ser539Gly) | |
9 | g.137776699A>T | CA375776120 | EHMT1 | c.1873A>T (p.Ser625Cys) c.1759A>T (p.Ser587Cys) c.1780A>T (p.Ser594Cys) c.1913A>T (n.1913A>T) c.1500A>T c.1042A>T (p.Ser348Cys) c.*1608A>T (n.*1608A>T) c.730A>T (p.Ser244Cys) c.421A>T (p.Ser141Cys) n.1750T>A c.1864A>T (p.Ser622Cys) c.1855A>T (p.Ser619Cys) c.1882A>T (p.Ser628Cys) c.1879A>T (p.Ser627Cys) c.1861A>T (p.Ser621Cys) c.1804A>T (p.Ser602Cys) c.1738A>T (p.Ser580Cys) c.304A>T (p.Ser102Cys) c.1717A>T (p.Ser573Cys) c.1852A>T (p.Ser618Cys) c.1858A>T (p.Ser620Cys) c.1774A>T (p.Ser592Cys) c.1702A>T (p.Ser568Cys) c.1636A>T (p.Ser546Cys) c.997A>T (p.Ser333Cys) c.1615A>T (p.Ser539Cys) | |
9 | g.137776700G>A | CA375776123 | EHMT1 | c.1874G>A (p.Ser625Asn) c.1760G>A (p.Ser587Asn) c.1781G>A (p.Ser594Asn) c.1914G>A (n.1914G>A) c.1501G>A c.1043G>A (p.Ser348Asn) c.*1609G>A (n.*1609G>A) c.731G>A (p.Ser244Asn) c.422G>A (p.Ser141Asn) n.1749C>T c.1865G>A (p.Ser622Asn) c.1856G>A (p.Ser619Asn) c.1883G>A (p.Ser628Asn) c.1880G>A (p.Ser627Asn) c.1862G>A (p.Ser621Asn) c.1805G>A (p.Ser602Asn) c.1739G>A (p.Ser580Asn) c.305G>A (p.Ser102Asn) c.1718G>A (p.Ser573Asn) c.1853G>A (p.Ser618Asn) c.1859G>A (p.Ser620Asn) c.1775G>A (p.Ser592Asn) c.1703G>A (p.Ser568Asn) c.1637G>A (p.Ser546Asn) c.998G>A (p.Ser333Asn) c.1616G>A (p.Ser539Asn) | gnomAD v4 |
9 | g.137776700G>C | CA375776126 | EHMT1 | c.1874G>C (p.Ser625Thr) c.1760G>C (p.Ser587Thr) c.1781G>C (p.Ser594Thr) c.1914G>C (n.1914G>C) c.1501G>C c.1043G>C (p.Ser348Thr) c.*1609G>C (n.*1609G>C) c.731G>C (p.Ser244Thr) c.422G>C (p.Ser141Thr) n.1749C>G c.1865G>C (p.Ser622Thr) c.1856G>C (p.Ser619Thr) c.1883G>C (p.Ser628Thr) c.1880G>C (p.Ser627Thr) c.1862G>C (p.Ser621Thr) c.1805G>C (p.Ser602Thr) c.1739G>C (p.Ser580Thr) c.305G>C (p.Ser102Thr) c.1718G>C (p.Ser573Thr) c.1853G>C (p.Ser618Thr) c.1859G>C (p.Ser620Thr) c.1775G>C (p.Ser592Thr) c.1703G>C (p.Ser568Thr) c.1637G>C (p.Ser546Thr) c.998G>C (p.Ser333Thr) c.1616G>C (p.Ser539Thr) | |
9 | g.137776700G>T | CA375776127 | EHMT1 | c.1874G>T (p.Ser625Ile) c.1760G>T (p.Ser587Ile) c.1781G>T (p.Ser594Ile) c.1914G>T (n.1914G>T) c.1501G>T c.1043G>T (p.Ser348Ile) c.*1609G>T (n.*1609G>T) c.731G>T (p.Ser244Ile) c.422G>T (p.Ser141Ile) n.1749C>A c.1865G>T (p.Ser622Ile) c.1856G>T (p.Ser619Ile) c.1883G>T (p.Ser628Ile) c.1880G>T (p.Ser627Ile) c.1862G>T (p.Ser621Ile) c.1805G>T (p.Ser602Ile) c.1739G>T (p.Ser580Ile) c.305G>T (p.Ser102Ile) c.1718G>T (p.Ser573Ile) c.1853G>T (p.Ser618Ile) c.1859G>T (p.Ser620Ile) c.1775G>T (p.Ser592Ile) c.1703G>T (p.Ser568Ile) c.1637G>T (p.Ser546Ile) c.998G>T (p.Ser333Ile) c.1616G>T (p.Ser539Ile) | |
9 | g.137776701C>A | CA375776133 | EHMT1 | c.1875C>A (p.Ser625Arg) c.1761C>A (p.Ser587Arg) c.1782C>A (p.Ser594Arg) c.1915C>A (n.1915C>A) c.1502C>A c.1044C>A (p.Ser348Arg) c.*1610C>A (n.*1610C>A) c.732C>A (p.Ser244Arg) c.423C>A (p.Ser141Arg) n.1748G>T c.1866C>A (p.Ser622Arg) c.1857C>A (p.Ser619Arg) c.1884C>A (p.Ser628Arg) c.1881C>A (p.Ser627Arg) c.1863C>A (p.Ser621Arg) c.1806C>A (p.Ser602Arg) c.1740C>A (p.Ser580Arg) c.306C>A (p.Ser102Arg) c.1719C>A (p.Ser573Arg) c.1854C>A (p.Ser618Arg) c.1860C>A (p.Ser620Arg) c.1776C>A (p.Ser592Arg) c.1704C>A (p.Ser568Arg) c.1638C>A (p.Ser546Arg) c.999C>A (p.Ser333Arg) c.1617C>A (p.Ser539Arg) | |
9 | g.137776701C>G | CA375776134 | EHMT1 | c.1875C>G (p.Ser625Arg) c.1761C>G (p.Ser587Arg) c.1782C>G (p.Ser594Arg) c.1915C>G (n.1915C>G) c.1502C>G c.1044C>G (p.Ser348Arg) c.*1610C>G (n.*1610C>G) c.732C>G (p.Ser244Arg) c.423C>G (p.Ser141Arg) n.1748G>C c.1866C>G (p.Ser622Arg) c.1857C>G (p.Ser619Arg) c.1884C>G (p.Ser628Arg) c.1881C>G (p.Ser627Arg) c.1863C>G (p.Ser621Arg) c.1806C>G (p.Ser602Arg) c.1740C>G (p.Ser580Arg) c.306C>G (p.Ser102Arg) c.1719C>G (p.Ser573Arg) c.1854C>G (p.Ser618Arg) c.1860C>G (p.Ser620Arg) c.1776C>G (p.Ser592Arg) c.1704C>G (p.Ser568Arg) c.1638C>G (p.Ser546Arg) c.999C>G (p.Ser333Arg) c.1617C>G (p.Ser539Arg) | |
9 | g.137776701C>T | CA467874077 | EHMT1 | c.1875C>T (p.Ser625=) c.1761C>T (p.Ser587=) c.1782C>T (p.Ser594=) c.1915C>T (n.1915C>T) c.1502C>T c.1044C>T (p.Ser348=) c.*1610C>T (n.*1610C>T) c.732C>T (p.Ser244=) c.423C>T (p.Ser141=) n.1748G>A c.1866C>T (p.Ser622=) c.1857C>T (p.Ser619=) c.1884C>T (p.Ser628=) c.1881C>T (p.Ser627=) c.1863C>T (p.Ser621=) c.1806C>T (p.Ser602=) c.1740C>T (p.Ser580=) c.306C>T (p.Ser102=) c.1719C>T (p.Ser573=) c.1854C>T (p.Ser618=) c.1860C>T (p.Ser620=) c.1776C>T (p.Ser592=) c.1704C>T (p.Ser568=) c.1638C>T (p.Ser546=) c.999C>T (p.Ser333=) c.1617C>T (p.Ser539=) | COSMIC COSMIC |
9 | g.137776702T>A | CA375776140 | EHMT1 | c.1876T>A (p.Tyr626Asn) c.1762T>A (p.Tyr588Asn) c.1783T>A (p.Tyr595Asn) c.1916T>A (n.1916T>A) c.1503T>A c.1045T>A (p.Tyr349Asn) c.*1611T>A (n.*1611T>A) c.733T>A (p.Tyr245Asn) c.424T>A (p.Tyr142Asn) n.1747A>T c.1867T>A (p.Tyr623Asn) c.1858T>A (p.Tyr620Asn) c.1885T>A (p.Tyr629Asn) c.1882T>A (p.Tyr628Asn) c.1864T>A (p.Tyr622Asn) c.1807T>A (p.Tyr603Asn) c.1741T>A (p.Tyr581Asn) c.307T>A (p.Tyr103Asn) c.1720T>A (p.Tyr574Asn) c.1855T>A (p.Tyr619Asn) c.1861T>A (p.Tyr621Asn) c.1777T>A (p.Tyr593Asn) c.1705T>A (p.Tyr569Asn) c.1639T>A (p.Tyr547Asn) c.1000T>A (p.Tyr334Asn) c.1618T>A (p.Tyr540Asn) | |
9 | g.137776702T>C | CA375776144 | EHMT1 | c.1876T>C (p.Tyr626His) c.1762T>C (p.Tyr588His) c.1783T>C (p.Tyr595His) c.1916T>C (n.1916T>C) c.1503T>C c.1045T>C (p.Tyr349His) c.*1611T>C (n.*1611T>C) c.733T>C (p.Tyr245His) c.424T>C (p.Tyr142His) n.1747A>G c.1867T>C (p.Tyr623His) c.1858T>C (p.Tyr620His) c.1885T>C (p.Tyr629His) c.1882T>C (p.Tyr628His) c.1864T>C (p.Tyr622His) c.1807T>C (p.Tyr603His) c.1741T>C (p.Tyr581His) c.307T>C (p.Tyr103His) c.1720T>C (p.Tyr574His) c.1855T>C (p.Tyr619His) c.1861T>C (p.Tyr621His) c.1777T>C (p.Tyr593His) c.1705T>C (p.Tyr569His) c.1639T>C (p.Tyr547His) c.1000T>C (p.Tyr334His) c.1618T>C (p.Tyr540His) | |
9 | g.137776702T>G | CA375776143 | EHMT1 | c.1876T>G (p.Tyr626Asp) c.1762T>G (p.Tyr588Asp) c.1783T>G (p.Tyr595Asp) c.1916T>G (n.1916T>G) c.1503T>G c.1045T>G (p.Tyr349Asp) c.*1611T>G (n.*1611T>G) c.733T>G (p.Tyr245Asp) c.424T>G (p.Tyr142Asp) n.1747A>C c.1867T>G (p.Tyr623Asp) c.1858T>G (p.Tyr620Asp) c.1885T>G (p.Tyr629Asp) c.1882T>G (p.Tyr628Asp) c.1864T>G (p.Tyr622Asp) c.1807T>G (p.Tyr603Asp) c.1741T>G (p.Tyr581Asp) c.307T>G (p.Tyr103Asp) c.1720T>G (p.Tyr574Asp) c.1855T>G (p.Tyr619Asp) c.1861T>G (p.Tyr621Asp) c.1777T>G (p.Tyr593Asp) c.1705T>G (p.Tyr569Asp) c.1639T>G (p.Tyr547Asp) c.1000T>G (p.Tyr334Asp) c.1618T>G (p.Tyr540Asp) | |
9 | g.137776703A= | CA1884666491 | EHMT1 | c.1877A= (p.Tyr626=) c.1763A= (p.Tyr588=) c.1784A= (p.Tyr595=) c.1917A= (n.1917A=) c.1504A= c.1046A= (p.Tyr349=) c.*1612A= (n.*1612A=) c.734A= (p.Tyr245=) c.425A= (p.Tyr142=) n.1746T= c.1868A= (p.Tyr623=) c.1859A= (p.Tyr620=) c.1886A= (p.Tyr629=) c.1883A= (p.Tyr628=) c.1865A= (p.Tyr622=) c.1808A= (p.Tyr603=) c.1742A= (p.Tyr581=) c.308A= (p.Tyr103=) c.1721A= (p.Tyr574=) c.1856A= (p.Tyr619=) c.1862A= (p.Tyr621=) c.1778A= (p.Tyr593=) c.1706A= (p.Tyr569=) c.1640A= (p.Tyr547=) c.1001A= (p.Tyr334=) c.1619A= (p.Tyr540=) | |
9 | g.137776703A>C | CA375776146 | EHMT1 | c.1877A>C (p.Tyr626Ser) c.1763A>C (p.Tyr588Ser) c.1784A>C (p.Tyr595Ser) c.1917A>C (n.1917A>C) c.1504A>C c.1046A>C (p.Tyr349Ser) c.*1612A>C (n.*1612A>C) c.734A>C (p.Tyr245Ser) c.425A>C (p.Tyr142Ser) n.1746T>G c.1868A>C (p.Tyr623Ser) c.1859A>C (p.Tyr620Ser) c.1886A>C (p.Tyr629Ser) c.1883A>C (p.Tyr628Ser) c.1865A>C (p.Tyr622Ser) c.1808A>C (p.Tyr603Ser) c.1742A>C (p.Tyr581Ser) c.308A>C (p.Tyr103Ser) c.1721A>C (p.Tyr574Ser) c.1856A>C (p.Tyr619Ser) c.1862A>C (p.Tyr621Ser) c.1778A>C (p.Tyr593Ser) c.1706A>C (p.Tyr569Ser) c.1640A>C (p.Tyr547Ser) c.1001A>C (p.Tyr334Ser) c.1619A>C (p.Tyr540Ser) | |
9 | g.137776703A>G | CA5374753 | EHMT1 | c.1877A>G (p.Tyr626Cys) c.1763A>G (p.Tyr588Cys) c.1784A>G (p.Tyr595Cys) c.1917A>G (n.1917A>G) c.1504A>G c.1046A>G (p.Tyr349Cys) c.*1612A>G (n.*1612A>G) c.734A>G (p.Tyr245Cys) c.425A>G (p.Tyr142Cys) n.1746T>C c.1868A>G (p.Tyr623Cys) c.1859A>G (p.Tyr620Cys) c.1886A>G (p.Tyr629Cys) c.1883A>G (p.Tyr628Cys) c.1865A>G (p.Tyr622Cys) c.1808A>G (p.Tyr603Cys) c.1742A>G (p.Tyr581Cys) c.308A>G (p.Tyr103Cys) c.1721A>G (p.Tyr574Cys) c.1856A>G (p.Tyr619Cys) c.1862A>G (p.Tyr621Cys) c.1778A>G (p.Tyr593Cys) c.1706A>G (p.Tyr569Cys) c.1640A>G (p.Tyr547Cys) c.1001A>G (p.Tyr334Cys) c.1619A>G (p.Tyr540Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776703A>T | CA375776147 | EHMT1 | c.1877A>T (p.Tyr626Phe) c.1763A>T (p.Tyr588Phe) c.1784A>T (p.Tyr595Phe) c.1917A>T (n.1917A>T) c.1504A>T c.1046A>T (p.Tyr349Phe) c.*1612A>T (n.*1612A>T) c.734A>T (p.Tyr245Phe) c.425A>T (p.Tyr142Phe) n.1746T>A c.1868A>T (p.Tyr623Phe) c.1859A>T (p.Tyr620Phe) c.1886A>T (p.Tyr629Phe) c.1883A>T (p.Tyr628Phe) c.1865A>T (p.Tyr622Phe) c.1808A>T (p.Tyr603Phe) c.1742A>T (p.Tyr581Phe) c.308A>T (p.Tyr103Phe) c.1721A>T (p.Tyr574Phe) c.1856A>T (p.Tyr619Phe) c.1862A>T (p.Tyr621Phe) c.1778A>T (p.Tyr593Phe) c.1706A>T (p.Tyr569Phe) c.1640A>T (p.Tyr547Phe) c.1001A>T (p.Tyr334Phe) c.1619A>T (p.Tyr540Phe) | |
9 | g.137776704T>A | CA375776149 | EHMT1 | c.1878T>A (p.Tyr626Ter) c.1764T>A (p.Tyr588Ter) c.1785T>A (p.Tyr595Ter) c.1918T>A (n.1918T>A) c.1505T>A c.1047T>A (p.Tyr349Ter) c.*1613T>A (n.*1613T>A) c.735T>A (p.Tyr245Ter) c.426T>A (p.Tyr142Ter) n.1745A>T c.1869T>A (p.Tyr623Ter) c.1860T>A (p.Tyr620Ter) c.1887T>A (p.Tyr629Ter) c.1884T>A (p.Tyr628Ter) c.1866T>A (p.Tyr622Ter) c.1809T>A (p.Tyr603Ter) c.1743T>A (p.Tyr581Ter) c.309T>A (p.Tyr103Ter) c.1722T>A (p.Tyr574Ter) c.1857T>A (p.Tyr619Ter) c.1863T>A (p.Tyr621Ter) c.1779T>A (p.Tyr593Ter) c.1707T>A (p.Tyr569Ter) c.1641T>A (p.Tyr547Ter) c.1002T>A (p.Tyr334Ter) c.1620T>A (p.Tyr540Ter) | |
9 | g.137776704T>C | CA467874078 | EHMT1 | c.1878T>C (p.Tyr626=) c.1764T>C (p.Tyr588=) c.1785T>C (p.Tyr595=) c.1918T>C (n.1918T>C) c.1505T>C c.1047T>C (p.Tyr349=) c.*1613T>C (n.*1613T>C) c.735T>C (p.Tyr245=) c.426T>C (p.Tyr142=) n.1745A>G c.1869T>C (p.Tyr623=) c.1860T>C (p.Tyr620=) c.1887T>C (p.Tyr629=) c.1884T>C (p.Tyr628=) c.1866T>C (p.Tyr622=) c.1809T>C (p.Tyr603=) c.1743T>C (p.Tyr581=) c.309T>C (p.Tyr103=) c.1722T>C (p.Tyr574=) c.1857T>C (p.Tyr619=) c.1863T>C (p.Tyr621=) c.1779T>C (p.Tyr593=) c.1707T>C (p.Tyr569=) c.1641T>C (p.Tyr547=) c.1002T>C (p.Tyr334=) c.1620T>C (p.Tyr540=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776704T>G | CA375776151 | EHMT1 | c.1878T>G (p.Tyr626Ter) c.1764T>G (p.Tyr588Ter) c.1785T>G (p.Tyr595Ter) c.1918T>G (n.1918T>G) c.1505T>G c.1047T>G (p.Tyr349Ter) c.*1613T>G (n.*1613T>G) c.735T>G (p.Tyr245Ter) c.426T>G (p.Tyr142Ter) n.1745A>C c.1869T>G (p.Tyr623Ter) c.1860T>G (p.Tyr620Ter) c.1887T>G (p.Tyr629Ter) c.1884T>G (p.Tyr628Ter) c.1866T>G (p.Tyr622Ter) c.1809T>G (p.Tyr603Ter) c.1743T>G (p.Tyr581Ter) c.309T>G (p.Tyr103Ter) c.1722T>G (p.Tyr574Ter) c.1857T>G (p.Tyr619Ter) c.1863T>G (p.Tyr621Ter) c.1779T>G (p.Tyr593Ter) c.1707T>G (p.Tyr569Ter) c.1641T>G (p.Tyr547Ter) c.1002T>G (p.Tyr334Ter) c.1620T>G (p.Tyr540Ter) | |
9 | g.137776704T= | CA1884666492 | EHMT1 | c.1878T= (p.Tyr626=) c.1764T= (p.Tyr588=) c.1785T= (p.Tyr595=) c.1918T= (n.1918T=) c.1505T= c.1047T= (p.Tyr349=) c.*1613T= (n.*1613T=) c.735T= (p.Tyr245=) c.426T= (p.Tyr142=) n.1745A= c.1869T= (p.Tyr623=) c.1860T= (p.Tyr620=) c.1887T= (p.Tyr629=) c.1884T= (p.Tyr628=) c.1866T= (p.Tyr622=) c.1809T= (p.Tyr603=) c.1743T= (p.Tyr581=) c.309T= (p.Tyr103=) c.1722T= (p.Tyr574=) c.1857T= (p.Tyr619=) c.1863T= (p.Tyr621=) c.1779T= (p.Tyr593=) c.1707T= (p.Tyr569=) c.1641T= (p.Tyr547=) c.1002T= (p.Tyr334=) c.1620T= (p.Tyr540=) | |
9 | g.137776705T>A | CA375776165 | EHMT1 | c.1879T>A (p.Cys627Ser) c.1765T>A (p.Cys589Ser) c.1786T>A (p.Cys596Ser) c.1919T>A (n.1919T>A) c.1506T>A c.1048T>A (p.Cys350Ser) c.*1614T>A (n.*1614T>A) c.736T>A (p.Cys246Ser) c.427T>A (p.Cys143Ser) n.1744A>T c.1870T>A (p.Cys624Ser) c.1861T>A (p.Cys621Ser) c.1888T>A (p.Cys630Ser) c.1885T>A (p.Cys629Ser) c.1867T>A (p.Cys623Ser) c.1810T>A (p.Cys604Ser) c.1744T>A (p.Cys582Ser) c.310T>A (p.Cys104Ser) c.1723T>A (p.Cys575Ser) c.1858T>A (p.Cys620Ser) c.1864T>A (p.Cys622Ser) c.1780T>A (p.Cys594Ser) c.1708T>A (p.Cys570Ser) c.1642T>A (p.Cys548Ser) c.1003T>A (p.Cys335Ser) c.1621T>A (p.Cys541Ser) | |
9 | g.137776705T>C | CA375776166 | EHMT1 | c.1879T>C (p.Cys627Arg) c.1765T>C (p.Cys589Arg) c.1786T>C (p.Cys596Arg) c.1919T>C (n.1919T>C) c.1506T>C c.1048T>C (p.Cys350Arg) c.*1614T>C (n.*1614T>C) c.736T>C (p.Cys246Arg) c.427T>C (p.Cys143Arg) n.1744A>G c.1870T>C (p.Cys624Arg) c.1861T>C (p.Cys621Arg) c.1888T>C (p.Cys630Arg) c.1885T>C (p.Cys629Arg) c.1867T>C (p.Cys623Arg) c.1810T>C (p.Cys604Arg) c.1744T>C (p.Cys582Arg) c.310T>C (p.Cys104Arg) c.1723T>C (p.Cys575Arg) c.1858T>C (p.Cys620Arg) c.1864T>C (p.Cys622Arg) c.1780T>C (p.Cys594Arg) c.1708T>C (p.Cys570Arg) c.1642T>C (p.Cys548Arg) c.1003T>C (p.Cys335Arg) c.1621T>C (p.Cys541Arg) | |
9 | g.137776705T>G | CA375776170 | EHMT1 | c.1879T>G (p.Cys627Gly) c.1765T>G (p.Cys589Gly) c.1786T>G (p.Cys596Gly) c.1919T>G (n.1919T>G) c.1506T>G c.1048T>G (p.Cys350Gly) c.*1614T>G (n.*1614T>G) c.736T>G (p.Cys246Gly) c.427T>G (p.Cys143Gly) n.1744A>C c.1870T>G (p.Cys624Gly) c.1861T>G (p.Cys621Gly) c.1888T>G (p.Cys630Gly) c.1885T>G (p.Cys629Gly) c.1867T>G (p.Cys623Gly) c.1810T>G (p.Cys604Gly) c.1744T>G (p.Cys582Gly) c.310T>G (p.Cys104Gly) c.1723T>G (p.Cys575Gly) c.1858T>G (p.Cys620Gly) c.1864T>G (p.Cys622Gly) c.1780T>G (p.Cys594Gly) c.1708T>G (p.Cys570Gly) c.1642T>G (p.Cys548Gly) c.1003T>G (p.Cys335Gly) c.1621T>G (p.Cys541Gly) | |
9 | g.137776706G>A | CA375776175 | EHMT1 | c.1880G>A (p.Cys627Tyr) c.1766G>A (p.Cys589Tyr) c.1787G>A (p.Cys596Tyr) c.1920G>A (n.1920G>A) c.1507G>A c.1049G>A (p.Cys350Tyr) c.*1615G>A (n.*1615G>A) c.737G>A (p.Cys246Tyr) c.428G>A (p.Cys143Tyr) n.1743C>T c.1871G>A (p.Cys624Tyr) c.1862G>A (p.Cys621Tyr) c.1889G>A (p.Cys630Tyr) c.1886G>A (p.Cys629Tyr) c.1868G>A (p.Cys623Tyr) c.1811G>A (p.Cys604Tyr) c.1745G>A (p.Cys582Tyr) c.311G>A (p.Cys104Tyr) c.1724G>A (p.Cys575Tyr) c.1859G>A (p.Cys620Tyr) c.1865G>A (p.Cys622Tyr) c.1781G>A (p.Cys594Tyr) c.1709G>A (p.Cys570Tyr) c.1643G>A (p.Cys548Tyr) c.1004G>A (p.Cys335Tyr) c.1622G>A (p.Cys541Tyr) | |
9 | g.137776706G>C | CA375776179 | EHMT1 | c.1880G>C (p.Cys627Ser) c.1766G>C (p.Cys589Ser) c.1787G>C (p.Cys596Ser) c.1920G>C (n.1920G>C) c.1507G>C c.1049G>C (p.Cys350Ser) c.*1615G>C (n.*1615G>C) c.737G>C (p.Cys246Ser) c.428G>C (p.Cys143Ser) n.1743C>G c.1871G>C (p.Cys624Ser) c.1862G>C (p.Cys621Ser) c.1889G>C (p.Cys630Ser) c.1886G>C (p.Cys629Ser) c.1868G>C (p.Cys623Ser) c.1811G>C (p.Cys604Ser) c.1745G>C (p.Cys582Ser) c.311G>C (p.Cys104Ser) c.1724G>C (p.Cys575Ser) c.1859G>C (p.Cys620Ser) c.1865G>C (p.Cys622Ser) c.1781G>C (p.Cys594Ser) c.1709G>C (p.Cys570Ser) c.1643G>C (p.Cys548Ser) c.1004G>C (p.Cys335Ser) c.1622G>C (p.Cys541Ser) | |
9 | g.137776706G>T | CA375776192 | EHMT1 | c.1880G>T (p.Cys627Phe) c.1766G>T (p.Cys589Phe) c.1787G>T (p.Cys596Phe) c.1920G>T (n.1920G>T) c.1507G>T c.1049G>T (p.Cys350Phe) c.*1615G>T (n.*1615G>T) c.737G>T (p.Cys246Phe) c.428G>T (p.Cys143Phe) n.1743C>A c.1871G>T (p.Cys624Phe) c.1862G>T (p.Cys621Phe) c.1889G>T (p.Cys630Phe) c.1886G>T (p.Cys629Phe) c.1868G>T (p.Cys623Phe) c.1811G>T (p.Cys604Phe) c.1745G>T (p.Cys582Phe) c.311G>T (p.Cys104Phe) c.1724G>T (p.Cys575Phe) c.1859G>T (p.Cys620Phe) c.1865G>T (p.Cys622Phe) c.1781G>T (p.Cys594Phe) c.1709G>T (p.Cys570Phe) c.1643G>T (p.Cys548Phe) c.1004G>T (p.Cys335Phe) c.1622G>T (p.Cys541Phe) | |
9 | g.137776707T>A | CA375776195 | EHMT1 | c.1881T>A (p.Cys627Ter) c.1767T>A (p.Cys589Ter) c.1788T>A (p.Cys596Ter) c.1921T>A (n.1921T>A) c.1508T>A c.1050T>A (p.Cys350Ter) c.*1616T>A (n.*1616T>A) c.738T>A (p.Cys246Ter) c.429T>A (p.Cys143Ter) n.1742A>T c.1872T>A (p.Cys624Ter) c.1863T>A (p.Cys621Ter) c.1890T>A (p.Cys630Ter) c.1887T>A (p.Cys629Ter) c.1869T>A (p.Cys623Ter) c.1812T>A (p.Cys604Ter) c.1746T>A (p.Cys582Ter) c.312T>A (p.Cys104Ter) c.1725T>A (p.Cys575Ter) c.1860T>A (p.Cys620Ter) c.1866T>A (p.Cys622Ter) c.1782T>A (p.Cys594Ter) c.1710T>A (p.Cys570Ter) c.1644T>A (p.Cys548Ter) c.1005T>A (p.Cys335Ter) c.1623T>A (p.Cys541Ter) | |
9 | g.137776707T>C | CA467874079 | EHMT1 | c.1881T>C (p.Cys627=) c.1767T>C (p.Cys589=) c.1788T>C (p.Cys596=) c.1921T>C (n.1921T>C) c.1508T>C c.1050T>C (p.Cys350=) c.*1616T>C (n.*1616T>C) c.738T>C (p.Cys246=) c.429T>C (p.Cys143=) n.1742A>G c.1872T>C (p.Cys624=) c.1863T>C (p.Cys621=) c.1890T>C (p.Cys630=) c.1887T>C (p.Cys629=) c.1869T>C (p.Cys623=) c.1812T>C (p.Cys604=) c.1746T>C (p.Cys582=) c.312T>C (p.Cys104=) c.1725T>C (p.Cys575=) c.1860T>C (p.Cys620=) c.1866T>C (p.Cys622=) c.1782T>C (p.Cys594=) c.1710T>C (p.Cys570=) c.1644T>C (p.Cys548=) c.1005T>C (p.Cys335=) c.1623T>C (p.Cys541=) | |
9 | g.137776707T>G | CA375776197 | EHMT1 | c.1881T>G (p.Cys627Trp) c.1767T>G (p.Cys589Trp) c.1788T>G (p.Cys596Trp) c.1921T>G (n.1921T>G) c.1508T>G c.1050T>G (p.Cys350Trp) c.*1616T>G (n.*1616T>G) c.738T>G (p.Cys246Trp) c.429T>G (p.Cys143Trp) n.1742A>C c.1872T>G (p.Cys624Trp) c.1863T>G (p.Cys621Trp) c.1890T>G (p.Cys630Trp) c.1887T>G (p.Cys629Trp) c.1869T>G (p.Cys623Trp) c.1812T>G (p.Cys604Trp) c.1746T>G (p.Cys582Trp) c.312T>G (p.Cys104Trp) c.1725T>G (p.Cys575Trp) c.1860T>G (p.Cys620Trp) c.1866T>G (p.Cys622Trp) c.1782T>G (p.Cys594Trp) c.1710T>G (p.Cys570Trp) c.1644T>G (p.Cys548Trp) c.1005T>G (p.Cys335Trp) c.1623T>G (p.Cys541Trp) | |
9 | g.137776708C>A | CA375776201 | EHMT1 | c.1882C>A (p.Pro628Thr) c.1768C>A (p.Pro590Thr) c.1789C>A (p.Pro597Thr) c.1922C>A (n.1922C>A) c.1509C>A c.1051C>A (p.Pro351Thr) c.*1617C>A (n.*1617C>A) c.739C>A (p.Pro247Thr) c.430C>A (p.Pro144Thr) n.1741G>T c.1873C>A (p.Pro625Thr) c.1864C>A (p.Pro622Thr) c.1891C>A (p.Pro631Thr) c.1888C>A (p.Pro630Thr) c.1870C>A (p.Pro624Thr) c.1813C>A (p.Pro605Thr) c.1747C>A (p.Pro583Thr) c.313C>A (p.Pro105Thr) c.1726C>A (p.Pro576Thr) c.1861C>A (p.Pro621Thr) c.1867C>A (p.Pro623Thr) c.1783C>A (p.Pro595Thr) c.1711C>A (p.Pro571Thr) c.1645C>A (p.Pro549Thr) c.1006C>A (p.Pro336Thr) c.1624C>A (p.Pro542Thr) | |
9 | g.137776708C>G | CA375776205 | EHMT1 | c.1882C>G (p.Pro628Ala) c.1768C>G (p.Pro590Ala) c.1789C>G (p.Pro597Ala) c.1922C>G (n.1922C>G) c.1509C>G c.1051C>G (p.Pro351Ala) c.*1617C>G (n.*1617C>G) c.739C>G (p.Pro247Ala) c.430C>G (p.Pro144Ala) n.1741G>C c.1873C>G (p.Pro625Ala) c.1864C>G (p.Pro622Ala) c.1891C>G (p.Pro631Ala) c.1888C>G (p.Pro630Ala) c.1870C>G (p.Pro624Ala) c.1813C>G (p.Pro605Ala) c.1747C>G (p.Pro583Ala) c.313C>G (p.Pro105Ala) c.1726C>G (p.Pro576Ala) c.1861C>G (p.Pro621Ala) c.1867C>G (p.Pro623Ala) c.1783C>G (p.Pro595Ala) c.1711C>G (p.Pro571Ala) c.1645C>G (p.Pro549Ala) c.1006C>G (p.Pro336Ala) c.1624C>G (p.Pro542Ala) | |
9 | g.137776708C>T | CA375776209 | EHMT1 | c.1882C>T (p.Pro628Ser) c.1768C>T (p.Pro590Ser) c.1789C>T (p.Pro597Ser) c.1922C>T (n.1922C>T) c.1509C>T c.1051C>T (p.Pro351Ser) c.*1617C>T (n.*1617C>T) c.739C>T (p.Pro247Ser) c.430C>T (p.Pro144Ser) n.1741G>A c.1873C>T (p.Pro625Ser) c.1864C>T (p.Pro622Ser) c.1891C>T (p.Pro631Ser) c.1888C>T (p.Pro630Ser) c.1870C>T (p.Pro624Ser) c.1813C>T (p.Pro605Ser) c.1747C>T (p.Pro583Ser) c.313C>T (p.Pro105Ser) c.1726C>T (p.Pro576Ser) c.1861C>T (p.Pro621Ser) c.1867C>T (p.Pro623Ser) c.1783C>T (p.Pro595Ser) c.1711C>T (p.Pro571Ser) c.1645C>T (p.Pro549Ser) c.1006C>T (p.Pro336Ser) c.1624C>T (p.Pro542Ser) | gnomAD v4 |
9 | g.137776709C>A | CA375776214 | EHMT1 | c.1883C>A (p.Pro628His) c.1769C>A (p.Pro590His) c.1790C>A (p.Pro597His) c.1923C>A (n.1923C>A) c.1510C>A c.1052C>A (p.Pro351His) c.*1618C>A (n.*1618C>A) c.740C>A (p.Pro247His) c.431C>A (p.Pro144His) n.1740G>T c.1874C>A (p.Pro625His) c.1865C>A (p.Pro622His) c.1892C>A (p.Pro631His) c.1889C>A (p.Pro630His) c.1871C>A (p.Pro624His) c.1814C>A (p.Pro605His) c.1748C>A (p.Pro583His) c.314C>A (p.Pro105His) c.1727C>A (p.Pro576His) c.1862C>A (p.Pro621His) c.1868C>A (p.Pro623His) c.1784C>A (p.Pro595His) c.1712C>A (p.Pro571His) c.1646C>A (p.Pro549His) c.1007C>A (p.Pro336His) c.1625C>A (p.Pro542His) | |
9 | g.137776709C= | CA1884666493 | EHMT1 | c.1883C= (p.Pro628=) c.1769C= (p.Pro590=) c.1790C= (p.Pro597=) c.1923C= (n.1923C=) c.1510C= c.1052C= (p.Pro351=) c.*1618C= (n.*1618C=) c.740C= (p.Pro247=) c.431C= (p.Pro144=) n.1740G= c.1874C= (p.Pro625=) c.1865C= (p.Pro622=) c.1892C= (p.Pro631=) c.1889C= (p.Pro630=) c.1871C= (p.Pro624=) c.1814C= (p.Pro605=) c.1748C= (p.Pro583=) c.314C= (p.Pro105=) c.1727C= (p.Pro576=) c.1862C= (p.Pro621=) c.1868C= (p.Pro623=) c.1784C= (p.Pro595=) c.1712C= (p.Pro571=) c.1646C= (p.Pro549=) c.1007C= (p.Pro336=) c.1625C= (p.Pro542=) | |
9 | g.137776709C>G | CA375776219 | EHMT1 | c.1883C>G (p.Pro628Arg) c.1769C>G (p.Pro590Arg) c.1790C>G (p.Pro597Arg) c.1923C>G (n.1923C>G) c.1510C>G c.1052C>G (p.Pro351Arg) c.*1618C>G (n.*1618C>G) c.740C>G (p.Pro247Arg) c.431C>G (p.Pro144Arg) n.1740G>C c.1874C>G (p.Pro625Arg) c.1865C>G (p.Pro622Arg) c.1892C>G (p.Pro631Arg) c.1889C>G (p.Pro630Arg) c.1871C>G (p.Pro624Arg) c.1814C>G (p.Pro605Arg) c.1748C>G (p.Pro583Arg) c.314C>G (p.Pro105Arg) c.1727C>G (p.Pro576Arg) c.1862C>G (p.Pro621Arg) c.1868C>G (p.Pro623Arg) c.1784C>G (p.Pro595Arg) c.1712C>G (p.Pro571Arg) c.1646C>G (p.Pro549Arg) c.1007C>G (p.Pro336Arg) c.1625C>G (p.Pro542Arg) | |
9 | g.137776709C>T | CA375776216 | EHMT1 | c.1883C>T (p.Pro628Leu) c.1769C>T (p.Pro590Leu) c.1790C>T (p.Pro597Leu) c.1923C>T (n.1923C>T) c.1510C>T c.1052C>T (p.Pro351Leu) c.*1618C>T (n.*1618C>T) c.740C>T (p.Pro247Leu) c.431C>T (p.Pro144Leu) n.1740G>A c.1874C>T (p.Pro625Leu) c.1865C>T (p.Pro622Leu) c.1892C>T (p.Pro631Leu) c.1889C>T (p.Pro630Leu) c.1871C>T (p.Pro624Leu) c.1814C>T (p.Pro605Leu) c.1748C>T (p.Pro583Leu) c.314C>T (p.Pro105Leu) c.1727C>T (p.Pro576Leu) c.1862C>T (p.Pro621Leu) c.1868C>T (p.Pro623Leu) c.1784C>T (p.Pro595Leu) c.1712C>T (p.Pro571Leu) c.1646C>T (p.Pro549Leu) c.1007C>T (p.Pro336Leu) c.1625C>T (p.Pro542Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.137776710C>A | CA467874080 | EHMT1 | c.1884C>A (p.Pro628=) c.1770C>A (p.Pro590=) c.1791C>A (p.Pro597=) c.1924C>A (n.1924C>A) c.1511C>A c.1053C>A (p.Pro351=) c.*1619C>A (n.*1619C>A) c.741C>A (p.Pro247=) c.432C>A (p.Pro144=) n.1739G>T c.1875C>A (p.Pro625=) c.1866C>A (p.Pro622=) c.1893C>A (p.Pro631=) c.1890C>A (p.Pro630=) c.1872C>A (p.Pro624=) c.1815C>A (p.Pro605=) c.1749C>A (p.Pro583=) c.315C>A (p.Pro105=) c.1728C>A (p.Pro576=) c.1863C>A (p.Pro621=) c.1869C>A (p.Pro623=) c.1785C>A (p.Pro595=) c.1713C>A (p.Pro571=) c.1647C>A (p.Pro549=) c.1008C>A (p.Pro336=) c.1626C>A (p.Pro542=) | |
9 | g.137776710C= | CA1884666494 | EHMT1 | c.1884C= (p.Pro628=) c.1770C= (p.Pro590=) c.1791C= (p.Pro597=) c.1924C= (n.1924C=) c.1511C= c.1053C= (p.Pro351=) c.*1619C= (n.*1619C=) c.741C= (p.Pro247=) c.432C= (p.Pro144=) n.1739G= c.1875C= (p.Pro625=) c.1866C= (p.Pro622=) c.1893C= (p.Pro631=) c.1890C= (p.Pro630=) c.1872C= (p.Pro624=) c.1815C= (p.Pro605=) c.1749C= (p.Pro583=) c.315C= (p.Pro105=) c.1728C= (p.Pro576=) c.1863C= (p.Pro621=) c.1869C= (p.Pro623=) c.1785C= (p.Pro595=) c.1713C= (p.Pro571=) c.1647C= (p.Pro549=) c.1008C= (p.Pro336=) c.1626C= (p.Pro542=) | |
9 | g.137776710C>G | CA201804088 | EHMT1 | c.1884C>G (p.Pro628=) c.1770C>G (p.Pro590=) c.1791C>G (p.Pro597=) c.1924C>G (n.1924C>G) c.1511C>G c.1053C>G (p.Pro351=) c.*1619C>G (n.*1619C>G) c.741C>G (p.Pro247=) c.432C>G (p.Pro144=) n.1739G>C c.1875C>G (p.Pro625=) c.1866C>G (p.Pro622=) c.1893C>G (p.Pro631=) c.1890C>G (p.Pro630=) c.1872C>G (p.Pro624=) c.1815C>G (p.Pro605=) c.1749C>G (p.Pro583=) c.315C>G (p.Pro105=) c.1728C>G (p.Pro576=) c.1863C>G (p.Pro621=) c.1869C>G (p.Pro623=) c.1785C>G (p.Pro595=) c.1713C>G (p.Pro571=) c.1647C>G (p.Pro549=) c.1008C>G (p.Pro336=) c.1626C>G (p.Pro542=) | dbSNP |
9 | g.137776710C>T | CA467874081 | EHMT1 | c.1884C>T (p.Pro628=) c.1770C>T (p.Pro590=) c.1791C>T (p.Pro597=) c.1924C>T (n.1924C>T) c.1511C>T c.1053C>T (p.Pro351=) c.*1619C>T (n.*1619C>T) c.741C>T (p.Pro247=) c.432C>T (p.Pro144=) n.1739G>A c.1875C>T (p.Pro625=) c.1866C>T (p.Pro622=) c.1893C>T (p.Pro631=) c.1890C>T (p.Pro630=) c.1872C>T (p.Pro624=) c.1815C>T (p.Pro605=) c.1749C>T (p.Pro583=) c.315C>T (p.Pro105=) c.1728C>T (p.Pro576=) c.1863C>T (p.Pro621=) c.1869C>T (p.Pro623=) c.1785C>T (p.Pro595=) c.1713C>T (p.Pro571=) c.1647C>T (p.Pro549=) c.1008C>T (p.Pro336=) c.1626C>T (p.Pro542=) | gnomAD v4 |
9 | g.137776711C>A | CA375776227 | EHMT1 | c.1885C>A (p.His629Asn) c.1771C>A (p.His591Asn) c.1792C>A (p.His598Asn) c.1925C>A (n.1925C>A) c.1512C>A c.1054C>A (p.His352Asn) c.*1620C>A (n.*1620C>A) c.742C>A (p.His248Asn) c.433C>A (p.His145Asn) n.1738G>T c.1876C>A (p.His626Asn) c.1867C>A (p.His623Asn) c.1894C>A (p.His632Asn) c.1891C>A (p.His631Asn) c.1873C>A (p.His625Asn) c.1816C>A (p.His606Asn) c.1750C>A (p.His584Asn) c.316C>A (p.His106Asn) c.1729C>A (p.His577Asn) c.1864C>A (p.His622Asn) c.1870C>A (p.His624Asn) c.1786C>A (p.His596Asn) c.1714C>A (p.His572Asn) c.1648C>A (p.His550Asn) c.1009C>A (p.His337Asn) c.1627C>A (p.His543Asn) | |
9 | g.137776711C>G | CA375776230 | EHMT1 | c.1885C>G (p.His629Asp) c.1771C>G (p.His591Asp) c.1792C>G (p.His598Asp) c.1925C>G (n.1925C>G) c.1512C>G c.1054C>G (p.His352Asp) c.*1620C>G (n.*1620C>G) c.742C>G (p.His248Asp) c.433C>G (p.His145Asp) n.1738G>C c.1876C>G (p.His626Asp) c.1867C>G (p.His623Asp) c.1894C>G (p.His632Asp) c.1891C>G (p.His631Asp) c.1873C>G (p.His625Asp) c.1816C>G (p.His606Asp) c.1750C>G (p.His584Asp) c.316C>G (p.His106Asp) c.1729C>G (p.His577Asp) c.1864C>G (p.His622Asp) c.1870C>G (p.His624Asp) c.1786C>G (p.His596Asp) c.1714C>G (p.His572Asp) c.1648C>G (p.His550Asp) c.1009C>G (p.His337Asp) c.1627C>G (p.His543Asp) | gnomAD v4 |
9 | g.137776711C>T | CA375776232 | EHMT1 | c.1885C>T (p.His629Tyr) c.1771C>T (p.His591Tyr) c.1792C>T (p.His598Tyr) c.1925C>T (n.1925C>T) c.1512C>T c.1054C>T (p.His352Tyr) c.*1620C>T (n.*1620C>T) c.742C>T (p.His248Tyr) c.433C>T (p.His145Tyr) n.1738G>A c.1876C>T (p.His626Tyr) c.1867C>T (p.His623Tyr) c.1894C>T (p.His632Tyr) c.1891C>T (p.His631Tyr) c.1873C>T (p.His625Tyr) c.1816C>T (p.His606Tyr) c.1750C>T (p.His584Tyr) c.316C>T (p.His106Tyr) c.1729C>T (p.His577Tyr) c.1864C>T (p.His622Tyr) c.1870C>T (p.His624Tyr) c.1786C>T (p.His596Tyr) c.1714C>T (p.His572Tyr) c.1648C>T (p.His550Tyr) c.1009C>T (p.His337Tyr) c.1627C>T (p.His543Tyr) | |
9 | g.137776712A>C | CA375776237 | EHMT1 | c.1886A>C (p.His629Pro) c.1772A>C (p.His591Pro) c.1793A>C (p.His598Pro) c.1926A>C (n.1926A>C) c.1513A>C c.1055A>C (p.His352Pro) c.*1621A>C (n.*1621A>C) c.743A>C (p.His248Pro) c.434A>C (p.His145Pro) n.1737T>G c.1877A>C (p.His626Pro) c.1868A>C (p.His623Pro) c.1895A>C (p.His632Pro) c.1892A>C (p.His631Pro) c.1874A>C (p.His625Pro) c.1817A>C (p.His606Pro) c.1751A>C (p.His584Pro) c.317A>C (p.His106Pro) c.1730A>C (p.His577Pro) c.1865A>C (p.His622Pro) c.1871A>C (p.His624Pro) c.1787A>C (p.His596Pro) c.1715A>C (p.His572Pro) c.1649A>C (p.His550Pro) c.1010A>C (p.His337Pro) c.1628A>C (p.His543Pro) | |
9 | g.137776712A>G | CA375776239 | EHMT1 | c.1886A>G (p.His629Arg) c.1772A>G (p.His591Arg) c.1793A>G (p.His598Arg) c.1926A>G (n.1926A>G) c.1513A>G c.1055A>G (p.His352Arg) c.*1621A>G (n.*1621A>G) c.743A>G (p.His248Arg) c.434A>G (p.His145Arg) n.1737T>C c.1877A>G (p.His626Arg) c.1868A>G (p.His623Arg) c.1895A>G (p.His632Arg) c.1892A>G (p.His631Arg) c.1874A>G (p.His625Arg) c.1817A>G (p.His606Arg) c.1751A>G (p.His584Arg) c.317A>G (p.His106Arg) c.1730A>G (p.His577Arg) c.1865A>G (p.His622Arg) c.1871A>G (p.His624Arg) c.1787A>G (p.His596Arg) c.1715A>G (p.His572Arg) c.1649A>G (p.His550Arg) c.1010A>G (p.His337Arg) c.1628A>G (p.His543Arg) | |
9 | g.137776712A>T | CA375776243 | EHMT1 | c.1886A>T (p.His629Leu) c.1772A>T (p.His591Leu) c.1793A>T (p.His598Leu) c.1926A>T (n.1926A>T) c.1513A>T c.1055A>T (p.His352Leu) c.*1621A>T (n.*1621A>T) c.743A>T (p.His248Leu) c.434A>T (p.His145Leu) n.1737T>A c.1877A>T (p.His626Leu) c.1868A>T (p.His623Leu) c.1895A>T (p.His632Leu) c.1892A>T (p.His631Leu) c.1874A>T (p.His625Leu) c.1817A>T (p.His606Leu) c.1751A>T (p.His584Leu) c.317A>T (p.His106Leu) c.1730A>T (p.His577Leu) c.1865A>T (p.His622Leu) c.1871A>T (p.His624Leu) c.1787A>T (p.His596Leu) c.1715A>T (p.His572Leu) c.1649A>T (p.His550Leu) c.1010A>T (p.His337Leu) c.1628A>T (p.His543Leu) | |
9 | g.137776713C>A | CA375776248 | EHMT1 | c.1887C>A (p.His629Gln) c.1773C>A (p.His591Gln) c.1794C>A (p.His598Gln) c.1927C>A (n.1927C>A) c.1514C>A c.1056C>A (p.His352Gln) c.*1622C>A (n.*1622C>A) c.744C>A (p.His248Gln) c.435C>A (p.His145Gln) n.1736G>T c.1878C>A (p.His626Gln) c.1869C>A (p.His623Gln) c.1896C>A (p.His632Gln) c.1893C>A (p.His631Gln) c.1875C>A (p.His625Gln) c.1818C>A (p.His606Gln) c.1752C>A (p.His584Gln) c.318C>A (p.His106Gln) c.1731C>A (p.His577Gln) c.1866C>A (p.His622Gln) c.1872C>A (p.His624Gln) c.1788C>A (p.His596Gln) c.1716C>A (p.His572Gln) c.1650C>A (p.His550Gln) c.1011C>A (p.His337Gln) c.1629C>A (p.His543Gln) | |
9 | g.137776713C>G | CA375776250 | EHMT1 | c.1887C>G (p.His629Gln) c.1773C>G (p.His591Gln) c.1794C>G (p.His598Gln) c.1927C>G (n.1927C>G) c.1514C>G c.1056C>G (p.His352Gln) c.*1622C>G (n.*1622C>G) c.744C>G (p.His248Gln) c.435C>G (p.His145Gln) n.1736G>C c.1878C>G (p.His626Gln) c.1869C>G (p.His623Gln) c.1896C>G (p.His632Gln) c.1893C>G (p.His631Gln) c.1875C>G (p.His625Gln) c.1818C>G (p.His606Gln) c.1752C>G (p.His584Gln) c.318C>G (p.His106Gln) c.1731C>G (p.His577Gln) c.1866C>G (p.His622Gln) c.1872C>G (p.His624Gln) c.1788C>G (p.His596Gln) c.1716C>G (p.His572Gln) c.1650C>G (p.His550Gln) c.1011C>G (p.His337Gln) c.1629C>G (p.His543Gln) | |
9 | g.137776713C>T | CA467874082 | EHMT1 | c.1887C>T (p.His629=) c.1773C>T (p.His591=) c.1794C>T (p.His598=) c.1927C>T (n.1927C>T) c.1514C>T c.1056C>T (p.His352=) c.*1622C>T (n.*1622C>T) c.744C>T (p.His248=) c.435C>T (p.His145=) n.1736G>A c.1878C>T (p.His626=) c.1869C>T (p.His623=) c.1896C>T (p.His632=) c.1893C>T (p.His631=) c.1875C>T (p.His625=) c.1818C>T (p.His606=) c.1752C>T (p.His584=) c.318C>T (p.His106=) c.1731C>T (p.His577=) c.1866C>T (p.His622=) c.1872C>T (p.His624=) c.1788C>T (p.His596=) c.1716C>T (p.His572=) c.1650C>T (p.His550=) c.1011C>T (p.His337=) c.1629C>T (p.His543=) | gnomAD v4 |
9 | g.137776714T>A | CA375776260 | EHMT1 | c.1888T>A (p.Cys630Ser) c.1774T>A (p.Cys592Ser) c.1795T>A (p.Cys599Ser) c.1928T>A (n.1928T>A) c.1515T>A c.1057T>A (p.Cys353Ser) c.*1623T>A (n.*1623T>A) c.745T>A (p.Cys249Ser) c.436T>A (p.Cys146Ser) n.1735A>T c.1879T>A (p.Cys627Ser) c.1870T>A (p.Cys624Ser) c.1897T>A (p.Cys633Ser) c.1894T>A (p.Cys632Ser) c.1876T>A (p.Cys626Ser) c.1819T>A (p.Cys607Ser) c.1753T>A (p.Cys585Ser) c.319T>A (p.Cys107Ser) c.1732T>A (p.Cys578Ser) c.1867T>A (p.Cys623Ser) c.1873T>A (p.Cys625Ser) c.1789T>A (p.Cys597Ser) c.1717T>A (p.Cys573Ser) c.1651T>A (p.Cys551Ser) c.1012T>A (p.Cys338Ser) c.1630T>A (p.Cys544Ser) | |
9 | g.137776714T>C | CA375776257 | EHMT1 | c.1888T>C (p.Cys630Arg) c.1774T>C (p.Cys592Arg) c.1795T>C (p.Cys599Arg) c.1928T>C (n.1928T>C) c.1515T>C c.1057T>C (p.Cys353Arg) c.*1623T>C (n.*1623T>C) c.745T>C (p.Cys249Arg) c.436T>C (p.Cys146Arg) n.1735A>G c.1879T>C (p.Cys627Arg) c.1870T>C (p.Cys624Arg) c.1897T>C (p.Cys633Arg) c.1894T>C (p.Cys632Arg) c.1876T>C (p.Cys626Arg) c.1819T>C (p.Cys607Arg) c.1753T>C (p.Cys585Arg) c.319T>C (p.Cys107Arg) c.1732T>C (p.Cys578Arg) c.1867T>C (p.Cys623Arg) c.1873T>C (p.Cys625Arg) c.1789T>C (p.Cys597Arg) c.1717T>C (p.Cys573Arg) c.1651T>C (p.Cys551Arg) c.1012T>C (p.Cys338Arg) c.1630T>C (p.Cys544Arg) | |
9 | g.137776714T>G | CA375776254 | EHMT1 | c.1888T>G (p.Cys630Gly) c.1774T>G (p.Cys592Gly) c.1795T>G (p.Cys599Gly) c.1928T>G (n.1928T>G) c.1515T>G c.1057T>G (p.Cys353Gly) c.*1623T>G (n.*1623T>G) c.745T>G (p.Cys249Gly) c.436T>G (p.Cys146Gly) n.1735A>C c.1879T>G (p.Cys627Gly) c.1870T>G (p.Cys624Gly) c.1897T>G (p.Cys633Gly) c.1894T>G (p.Cys632Gly) c.1876T>G (p.Cys626Gly) c.1819T>G (p.Cys607Gly) c.1753T>G (p.Cys585Gly) c.319T>G (p.Cys107Gly) c.1732T>G (p.Cys578Gly) c.1867T>G (p.Cys623Gly) c.1873T>G (p.Cys625Gly) c.1789T>G (p.Cys597Gly) c.1717T>G (p.Cys573Gly) c.1651T>G (p.Cys551Gly) c.1012T>G (p.Cys338Gly) c.1630T>G (p.Cys544Gly) | |
9 | g.137776715G>A | CA375776261 | EHMT1 | c.1889G>A (p.Cys630Tyr) c.1775G>A (p.Cys592Tyr) c.1796G>A (p.Cys599Tyr) c.1929G>A (n.1929G>A) c.1516G>A c.1058G>A (p.Cys353Tyr) c.*1624G>A (n.*1624G>A) c.746G>A (p.Cys249Tyr) c.437G>A (p.Cys146Tyr) n.1734C>T c.1880G>A (p.Cys627Tyr) c.1871G>A (p.Cys624Tyr) c.1898G>A (p.Cys633Tyr) c.1895G>A (p.Cys632Tyr) c.1877G>A (p.Cys626Tyr) c.1820G>A (p.Cys607Tyr) c.1754G>A (p.Cys585Tyr) c.320G>A (p.Cys107Tyr) c.1733G>A (p.Cys578Tyr) c.1868G>A (p.Cys623Tyr) c.1874G>A (p.Cys625Tyr) c.1790G>A (p.Cys597Tyr) c.1718G>A (p.Cys573Tyr) c.1652G>A (p.Cys551Tyr) c.1013G>A (p.Cys338Tyr) c.1631G>A (p.Cys544Tyr) | |
9 | g.137776715G>C | CA375776262 | EHMT1 | c.1889G>C (p.Cys630Ser) c.1775G>C (p.Cys592Ser) c.1796G>C (p.Cys599Ser) c.1929G>C (n.1929G>C) c.1516G>C c.1058G>C (p.Cys353Ser) c.*1624G>C (n.*1624G>C) c.746G>C (p.Cys249Ser) c.437G>C (p.Cys146Ser) n.1734C>G c.1880G>C (p.Cys627Ser) c.1871G>C (p.Cys624Ser) c.1898G>C (p.Cys633Ser) c.1895G>C (p.Cys632Ser) c.1877G>C (p.Cys626Ser) c.1820G>C (p.Cys607Ser) c.1754G>C (p.Cys585Ser) c.320G>C (p.Cys107Ser) c.1733G>C (p.Cys578Ser) c.1868G>C (p.Cys623Ser) c.1874G>C (p.Cys625Ser) c.1790G>C (p.Cys597Ser) c.1718G>C (p.Cys573Ser) c.1652G>C (p.Cys551Ser) c.1013G>C (p.Cys338Ser) c.1631G>C (p.Cys544Ser) | |
9 | g.137776715G>T | CA375776263 | EHMT1 | c.1889G>T (p.Cys630Phe) c.1775G>T (p.Cys592Phe) c.1796G>T (p.Cys599Phe) c.1929G>T (n.1929G>T) c.1516G>T c.1058G>T (p.Cys353Phe) c.*1624G>T (n.*1624G>T) c.746G>T (p.Cys249Phe) c.437G>T (p.Cys146Phe) n.1734C>A c.1880G>T (p.Cys627Phe) c.1871G>T (p.Cys624Phe) c.1898G>T (p.Cys633Phe) c.1895G>T (p.Cys632Phe) c.1877G>T (p.Cys626Phe) c.1820G>T (p.Cys607Phe) c.1754G>T (p.Cys585Phe) c.320G>T (p.Cys107Phe) c.1733G>T (p.Cys578Phe) c.1868G>T (p.Cys623Phe) c.1874G>T (p.Cys625Phe) c.1790G>T (p.Cys597Phe) c.1718G>T (p.Cys573Phe) c.1652G>T (p.Cys551Phe) c.1013G>T (p.Cys338Phe) c.1631G>T (p.Cys544Phe) | |
9 | g.137776716T>A | CA375776265 | EHMT1 | c.1890T>A (p.Cys630Ter) c.1776T>A (p.Cys592Ter) c.1797T>A (p.Cys599Ter) c.1930T>A (n.1930T>A) c.1517T>A c.1059T>A (p.Cys353Ter) c.*1625T>A (n.*1625T>A) c.747T>A (p.Cys249Ter) c.438T>A (p.Cys146Ter) n.1733A>T c.1881T>A (p.Cys627Ter) c.1872T>A (p.Cys624Ter) c.1899T>A (p.Cys633Ter) c.1896T>A (p.Cys632Ter) c.1878T>A (p.Cys626Ter) c.1821T>A (p.Cys607Ter) c.1755T>A (p.Cys585Ter) c.321T>A (p.Cys107Ter) c.1734T>A (p.Cys578Ter) c.1869T>A (p.Cys623Ter) c.1875T>A (p.Cys625Ter) c.1791T>A (p.Cys597Ter) c.1719T>A (p.Cys573Ter) c.1653T>A (p.Cys551Ter) c.1014T>A (p.Cys338Ter) c.1632T>A (p.Cys544Ter) | |
9 | g.137776716T>C | CA467874083 | EHMT1 | c.1890T>C (p.Cys630=) c.1776T>C (p.Cys592=) c.1797T>C (p.Cys599=) c.1930T>C (n.1930T>C) c.1517T>C c.1059T>C (p.Cys353=) c.*1625T>C (n.*1625T>C) c.747T>C (p.Cys249=) c.438T>C (p.Cys146=) n.1733A>G c.1881T>C (p.Cys627=) c.1872T>C (p.Cys624=) c.1899T>C (p.Cys633=) c.1896T>C (p.Cys632=) c.1878T>C (p.Cys626=) c.1821T>C (p.Cys607=) c.1755T>C (p.Cys585=) c.321T>C (p.Cys107=) c.1734T>C (p.Cys578=) c.1869T>C (p.Cys623=) c.1875T>C (p.Cys625=) c.1791T>C (p.Cys597=) c.1719T>C (p.Cys573=) c.1653T>C (p.Cys551=) c.1014T>C (p.Cys338=) c.1632T>C (p.Cys544=) | |
9 | g.137776716T>G | CA375776268 | EHMT1 | c.1890T>G (p.Cys630Trp) c.1776T>G (p.Cys592Trp) c.1797T>G (p.Cys599Trp) c.1930T>G (n.1930T>G) c.1517T>G c.1059T>G (p.Cys353Trp) c.*1625T>G (n.*1625T>G) c.747T>G (p.Cys249Trp) c.438T>G (p.Cys146Trp) n.1733A>C c.1881T>G (p.Cys627Trp) c.1872T>G (p.Cys624Trp) c.1899T>G (p.Cys633Trp) c.1896T>G (p.Cys632Trp) c.1878T>G (p.Cys626Trp) c.1821T>G (p.Cys607Trp) c.1755T>G (p.Cys585Trp) c.321T>G (p.Cys107Trp) c.1734T>G (p.Cys578Trp) c.1869T>G (p.Cys623Trp) c.1875T>G (p.Cys625Trp) c.1791T>G (p.Cys597Trp) c.1719T>G (p.Cys573Trp) c.1653T>G (p.Cys551Trp) c.1014T>G (p.Cys338Trp) c.1632T>G (p.Cys544Trp) | |
9 | g.137776717G>A | CA375776275 | EHMT1 | c.1891G>A (p.Gly631Arg) c.1777G>A (p.Gly593Arg) c.1798G>A (p.Gly600Arg) c.1931G>A (n.1931G>A) c.1518G>A c.1060G>A (p.Gly354Arg) c.*1626G>A (n.*1626G>A) c.748G>A (p.Gly250Arg) c.439G>A (p.Gly147Arg) n.1732C>T c.1882G>A (p.Gly628Arg) c.1873G>A (p.Gly625Arg) c.1900G>A (p.Gly634Arg) c.1897G>A (p.Gly633Arg) c.1879G>A (p.Gly627Arg) c.1822G>A (p.Gly608Arg) c.1756G>A (p.Gly586Arg) c.322G>A (p.Gly108Arg) c.1735G>A (p.Gly579Arg) c.1870G>A (p.Gly624Arg) c.1876G>A (p.Gly626Arg) c.1792G>A (p.Gly598Arg) c.1720G>A (p.Gly574Arg) c.1654G>A (p.Gly552Arg) c.1015G>A (p.Gly339Arg) c.1633G>A (p.Gly545Arg) | |
9 | g.137776717G>C | CA375776273 | EHMT1 | c.1891G>C (p.Gly631Arg) c.1777G>C (p.Gly593Arg) c.1798G>C (p.Gly600Arg) c.1931G>C (n.1931G>C) c.1518G>C c.1060G>C (p.Gly354Arg) c.*1626G>C (n.*1626G>C) c.748G>C (p.Gly250Arg) c.439G>C (p.Gly147Arg) n.1732C>G c.1882G>C (p.Gly628Arg) c.1873G>C (p.Gly625Arg) c.1900G>C (p.Gly634Arg) c.1897G>C (p.Gly633Arg) c.1879G>C (p.Gly627Arg) c.1822G>C (p.Gly608Arg) c.1756G>C (p.Gly586Arg) c.322G>C (p.Gly108Arg) c.1735G>C (p.Gly579Arg) c.1870G>C (p.Gly624Arg) c.1876G>C (p.Gly626Arg) c.1792G>C (p.Gly598Arg) c.1720G>C (p.Gly574Arg) c.1654G>C (p.Gly552Arg) c.1015G>C (p.Gly339Arg) c.1633G>C (p.Gly545Arg) | |
9 | g.137776717G>T | CA375776271 | EHMT1 | c.1891G>T (p.Gly631Trp) c.1777G>T (p.Gly593Trp) c.1798G>T (p.Gly600Trp) c.1931G>T (n.1931G>T) c.1518G>T c.1060G>T (p.Gly354Trp) c.*1626G>T (n.*1626G>T) c.748G>T (p.Gly250Trp) c.439G>T (p.Gly147Trp) n.1732C>A c.1882G>T (p.Gly628Trp) c.1873G>T (p.Gly625Trp) c.1900G>T (p.Gly634Trp) c.1897G>T (p.Gly633Trp) c.1879G>T (p.Gly627Trp) c.1822G>T (p.Gly608Trp) c.1756G>T (p.Gly586Trp) c.322G>T (p.Gly108Trp) c.1735G>T (p.Gly579Trp) c.1870G>T (p.Gly624Trp) c.1876G>T (p.Gly626Trp) c.1792G>T (p.Gly598Trp) c.1720G>T (p.Gly574Trp) c.1654G>T (p.Gly552Trp) c.1015G>T (p.Gly339Trp) c.1633G>T (p.Gly545Trp) | |
9 | g.137776718G>A | CA375776276 | EHMT1 | c.1892G>A (p.Gly631Glu) c.1778G>A (p.Gly593Glu) c.1799G>A (p.Gly600Glu) c.1932G>A (n.1932G>A) c.1519G>A c.1061G>A (p.Gly354Glu) c.*1627G>A (n.*1627G>A) c.749G>A (p.Gly250Glu) c.440G>A (p.Gly147Glu) n.1731C>T c.1883G>A (p.Gly628Glu) c.1874G>A (p.Gly625Glu) c.1901G>A (p.Gly634Glu) c.1898G>A (p.Gly633Glu) c.1880G>A (p.Gly627Glu) c.1823G>A (p.Gly608Glu) c.1757G>A (p.Gly586Glu) c.323G>A (p.Gly108Glu) c.1736G>A (p.Gly579Glu) c.1871G>A (p.Gly624Glu) c.1877G>A (p.Gly626Glu) c.1793G>A (p.Gly598Glu) c.1721G>A (p.Gly574Glu) c.1655G>A (p.Gly552Glu) c.1016G>A (p.Gly339Glu) c.1634G>A (p.Gly545Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137776718G>C | CA375776277 | EHMT1 | c.1892G>C (p.Gly631Ala) c.1778G>C (p.Gly593Ala) c.1799G>C (p.Gly600Ala) c.1932G>C (n.1932G>C) c.1519G>C c.1061G>C (p.Gly354Ala) c.*1627G>C (n.*1627G>C) c.749G>C (p.Gly250Ala) c.440G>C (p.Gly147Ala) n.1731C>G c.1883G>C (p.Gly628Ala) c.1874G>C (p.Gly625Ala) c.1901G>C (p.Gly634Ala) c.1898G>C (p.Gly633Ala) c.1880G>C (p.Gly627Ala) c.1823G>C (p.Gly608Ala) c.1757G>C (p.Gly586Ala) c.323G>C (p.Gly108Ala) c.1736G>C (p.Gly579Ala) c.1871G>C (p.Gly624Ala) c.1877G>C (p.Gly626Ala) c.1793G>C (p.Gly598Ala) c.1721G>C (p.Gly574Ala) c.1655G>C (p.Gly552Ala) c.1016G>C (p.Gly339Ala) c.1634G>C (p.Gly545Ala) | |
9 | g.137776718G= | CA1884666495 | EHMT1 | c.1892G= (p.Gly631=) c.1778G= (p.Gly593=) c.1799G= (p.Gly600=) c.1932G= (n.1932G=) c.1519G= c.1061G= (p.Gly354=) c.*1627G= (n.*1627G=) c.749G= (p.Gly250=) c.440G= (p.Gly147=) n.1731C= c.1883G= (p.Gly628=) c.1874G= (p.Gly625=) c.1901G= (p.Gly634=) c.1898G= (p.Gly633=) c.1880G= (p.Gly627=) c.1823G= (p.Gly608=) c.1757G= (p.Gly586=) c.323G= (p.Gly108=) c.1736G= (p.Gly579=) c.1871G= (p.Gly624=) c.1877G= (p.Gly626=) c.1793G= (p.Gly598=) c.1721G= (p.Gly574=) c.1655G= (p.Gly552=) c.1016G= (p.Gly339=) c.1634G= (p.Gly545=) | |
9 | g.137776718G>T | CA375776278 | EHMT1 | c.1892G>T (p.Gly631Val) c.1778G>T (p.Gly593Val) c.1799G>T (p.Gly600Val) c.1932G>T (n.1932G>T) c.1519G>T c.1061G>T (p.Gly354Val) c.*1627G>T (n.*1627G>T) c.749G>T (p.Gly250Val) c.440G>T (p.Gly147Val) n.1731C>A c.1883G>T (p.Gly628Val) c.1874G>T (p.Gly625Val) c.1901G>T (p.Gly634Val) c.1898G>T (p.Gly633Val) c.1880G>T (p.Gly627Val) c.1823G>T (p.Gly608Val) c.1757G>T (p.Gly586Val) c.323G>T (p.Gly108Val) c.1736G>T (p.Gly579Val) c.1871G>T (p.Gly624Val) c.1877G>T (p.Gly626Val) c.1793G>T (p.Gly598Val) c.1721G>T (p.Gly574Val) c.1655G>T (p.Gly552Val) c.1016G>T (p.Gly339Val) c.1634G>T (p.Gly545Val) | |
9 | g.137776719G>A | CA467874084 | EHMT1 | c.1893G>A (p.Gly631=) c.1779G>A (p.Gly593=) c.1800G>A (p.Gly600=) c.1933G>A (n.1933G>A) c.1520G>A c.1062G>A (p.Gly354=) c.*1628G>A (n.*1628G>A) c.750G>A (p.Gly250=) c.441G>A (p.Gly147=) n.1730C>T c.1884G>A (p.Gly628=) c.1875G>A (p.Gly625=) c.1902G>A (p.Gly634=) c.1899G>A (p.Gly633=) c.1881G>A (p.Gly627=) c.1824G>A (p.Gly608=) c.1758G>A (p.Gly586=) c.324G>A (p.Gly108=) c.1737G>A (p.Gly579=) c.1872G>A (p.Gly624=) c.1878G>A (p.Gly626=) c.1794G>A (p.Gly598=) c.1722G>A (p.Gly574=) c.1656G>A (p.Gly552=) c.1017G>A (p.Gly339=) c.1635G>A (p.Gly545=) | gnomAD v4 |
9 | g.137776719G>C | CA467874085 | EHMT1 | c.1893G>C (p.Gly631=) c.1779G>C (p.Gly593=) c.1800G>C (p.Gly600=) c.1933G>C (n.1933G>C) c.1520G>C c.1062G>C (p.Gly354=) c.*1628G>C (n.*1628G>C) c.750G>C (p.Gly250=) c.441G>C (p.Gly147=) n.1730C>G c.1884G>C (p.Gly628=) c.1875G>C (p.Gly625=) c.1902G>C (p.Gly634=) c.1899G>C (p.Gly633=) c.1881G>C (p.Gly627=) c.1824G>C (p.Gly608=) c.1758G>C (p.Gly586=) c.324G>C (p.Gly108=) c.1737G>C (p.Gly579=) c.1872G>C (p.Gly624=) c.1878G>C (p.Gly626=) c.1794G>C (p.Gly598=) c.1722G>C (p.Gly574=) c.1656G>C (p.Gly552=) c.1017G>C (p.Gly339=) c.1635G>C (p.Gly545=) | |
9 | g.137776719G>T | CA467874086 | EHMT1 | c.1893G>T (p.Gly631=) c.1779G>T (p.Gly593=) c.1800G>T (p.Gly600=) c.1933G>T (n.1933G>T) c.1520G>T c.1062G>T (p.Gly354=) c.*1628G>T (n.*1628G>T) c.750G>T (p.Gly250=) c.441G>T (p.Gly147=) n.1730C>A c.1884G>T (p.Gly628=) c.1875G>T (p.Gly625=) c.1902G>T (p.Gly634=) c.1899G>T (p.Gly633=) c.1881G>T (p.Gly627=) c.1824G>T (p.Gly608=) c.1758G>T (p.Gly586=) c.324G>T (p.Gly108=) c.1737G>T (p.Gly579=) c.1872G>T (p.Gly624=) c.1878G>T (p.Gly626=) c.1794G>T (p.Gly598=) c.1722G>T (p.Gly574=) c.1656G>T (p.Gly552=) c.1017G>T (p.Gly339=) c.1635G>T (p.Gly545=) | |
9 | g.137776720G>A | CA375776279 | EHMT1 | c.1894G>A (p.Glu632Lys) c.1780G>A (p.Glu594Lys) c.1801G>A (p.Glu601Lys) c.1934G>A (n.1934G>A) c.1521G>A c.1063G>A (p.Glu355Lys) c.*1629G>A (n.*1629G>A) c.751G>A (p.Glu251Lys) c.442G>A (p.Glu148Lys) n.1729C>T c.1885G>A (p.Glu629Lys) c.1876G>A (p.Glu626Lys) c.1903G>A (p.Glu635Lys) c.1900G>A (p.Glu634Lys) c.1882G>A (p.Glu628Lys) c.1825G>A (p.Glu609Lys) c.1759G>A (p.Glu587Lys) c.325G>A (p.Glu109Lys) c.1738G>A (p.Glu580Lys) c.1873G>A (p.Glu625Lys) c.1879G>A (p.Glu627Lys) c.1795G>A (p.Glu599Lys) c.1723G>A (p.Glu575Lys) c.1657G>A (p.Glu553Lys) c.1018G>A (p.Glu340Lys) c.1636G>A (p.Glu546Lys) | |
9 | g.137776720G>C | CA375776281 | EHMT1 | c.1894G>C (p.Glu632Gln) c.1780G>C (p.Glu594Gln) c.1801G>C (p.Glu601Gln) c.1934G>C (n.1934G>C) c.1521G>C c.1063G>C (p.Glu355Gln) c.*1629G>C (n.*1629G>C) c.751G>C (p.Glu251Gln) c.442G>C (p.Glu148Gln) n.1729C>G c.1885G>C (p.Glu629Gln) c.1876G>C (p.Glu626Gln) c.1903G>C (p.Glu635Gln) c.1900G>C (p.Glu634Gln) c.1882G>C (p.Glu628Gln) c.1825G>C (p.Glu609Gln) c.1759G>C (p.Glu587Gln) c.325G>C (p.Glu109Gln) c.1738G>C (p.Glu580Gln) c.1873G>C (p.Glu625Gln) c.1879G>C (p.Glu627Gln) c.1795G>C (p.Glu599Gln) c.1723G>C (p.Glu575Gln) c.1657G>C (p.Glu553Gln) c.1018G>C (p.Glu340Gln) c.1636G>C (p.Glu546Gln) | |
9 | g.137776720G>T | CA375776282 | EHMT1 | c.1894G>T (p.Glu632Ter) c.1780G>T (p.Glu594Ter) c.1801G>T (p.Glu601Ter) c.1934G>T (n.1934G>T) c.1521G>T c.1063G>T (p.Glu355Ter) c.*1629G>T (n.*1629G>T) c.751G>T (p.Glu251Ter) c.442G>T (p.Glu148Ter) n.1729C>A c.1885G>T (p.Glu629Ter) c.1876G>T (p.Glu626Ter) c.1903G>T (p.Glu635Ter) c.1900G>T (p.Glu634Ter) c.1882G>T (p.Glu628Ter) c.1825G>T (p.Glu609Ter) c.1759G>T (p.Glu587Ter) c.325G>T (p.Glu109Ter) c.1738G>T (p.Glu580Ter) c.1873G>T (p.Glu625Ter) c.1879G>T (p.Glu627Ter) c.1795G>T (p.Glu599Ter) c.1723G>T (p.Glu575Ter) c.1657G>T (p.Glu553Ter) c.1018G>T (p.Glu340Ter) c.1636G>T (p.Glu546Ter) | |
9 | g.137776721A>C | CA375776286 | EHMT1 | c.1895A>C (p.Glu632Ala) c.1781A>C (p.Glu594Ala) c.1802A>C (p.Glu601Ala) c.1935A>C (n.1935A>C) c.1522A>C c.1064A>C (p.Glu355Ala) c.*1630A>C (n.*1630A>C) c.752A>C (p.Glu251Ala) c.443A>C (p.Glu148Ala) n.1728T>G c.1886A>C (p.Glu629Ala) c.1877A>C (p.Glu626Ala) c.1904A>C (p.Glu635Ala) c.1901A>C (p.Glu634Ala) c.1883A>C (p.Glu628Ala) c.1826A>C (p.Glu609Ala) c.1760A>C (p.Glu587Ala) c.326A>C (p.Glu109Ala) c.1739A>C (p.Glu580Ala) c.1874A>C (p.Glu625Ala) c.1880A>C (p.Glu627Ala) c.1796A>C (p.Glu599Ala) c.1724A>C (p.Glu575Ala) c.1658A>C (p.Glu553Ala) c.1019A>C (p.Glu340Ala) c.1637A>C (p.Glu546Ala) | |
9 | g.137776721A>G | CA375776294 | EHMT1 | c.1895A>G (p.Glu632Gly) c.1781A>G (p.Glu594Gly) c.1802A>G (p.Glu601Gly) c.1935A>G (n.1935A>G) c.1522A>G c.1064A>G (p.Glu355Gly) c.*1630A>G (n.*1630A>G) c.752A>G (p.Glu251Gly) c.443A>G (p.Glu148Gly) n.1728T>C c.1886A>G (p.Glu629Gly) c.1877A>G (p.Glu626Gly) c.1904A>G (p.Glu635Gly) c.1901A>G (p.Glu634Gly) c.1883A>G (p.Glu628Gly) c.1826A>G (p.Glu609Gly) c.1760A>G (p.Glu587Gly) c.326A>G (p.Glu109Gly) c.1739A>G (p.Glu580Gly) c.1874A>G (p.Glu625Gly) c.1880A>G (p.Glu627Gly) c.1796A>G (p.Glu599Gly) c.1724A>G (p.Glu575Gly) c.1658A>G (p.Glu553Gly) c.1019A>G (p.Glu340Gly) c.1637A>G (p.Glu546Gly) | |
9 | g.137776721A>T | CA375776290 | EHMT1 | c.1895A>T (p.Glu632Val) c.1781A>T (p.Glu594Val) c.1802A>T (p.Glu601Val) c.1935A>T (n.1935A>T) c.1522A>T c.1064A>T (p.Glu355Val) c.*1630A>T (n.*1630A>T) c.752A>T (p.Glu251Val) c.443A>T (p.Glu148Val) n.1728T>A c.1886A>T (p.Glu629Val) c.1877A>T (p.Glu626Val) c.1904A>T (p.Glu635Val) c.1901A>T (p.Glu634Val) c.1883A>T (p.Glu628Val) c.1826A>T (p.Glu609Val) c.1760A>T (p.Glu587Val) c.326A>T (p.Glu109Val) c.1739A>T (p.Glu580Val) c.1874A>T (p.Glu625Val) c.1880A>T (p.Glu627Val) c.1796A>T (p.Glu599Val) c.1724A>T (p.Glu575Val) c.1658A>T (p.Glu553Val) c.1019A>T (p.Glu340Val) c.1637A>T (p.Glu546Val) | |
9 | g.137776722G>A | CA467874087 | EHMT1 | c.1896G>A (p.Glu632=) c.1782G>A (p.Glu594=) c.1803G>A (p.Glu601=) c.1936G>A (n.1936G>A) c.1523G>A c.1065G>A (p.Glu355=) c.*1631G>A (n.*1631G>A) c.753G>A (p.Glu251=) c.444G>A (p.Glu148=) n.1727C>T c.1887G>A (p.Glu629=) c.1878G>A (p.Glu626=) c.1905G>A (p.Glu635=) c.1902G>A (p.Glu634=) c.1884G>A (p.Glu628=) c.1827G>A (p.Glu609=) c.1761G>A (p.Glu587=) c.327G>A (p.Glu109=) c.1740G>A (p.Glu580=) c.1875G>A (p.Glu625=) c.1881G>A (p.Glu627=) c.1797G>A (p.Glu599=) c.1725G>A (p.Glu575=) c.1659G>A (p.Glu553=) c.1020G>A (p.Glu340=) c.1638G>A (p.Glu546=) | gnomAD v4 |
9 | g.137776722G>C | CA375776297 | EHMT1 | c.1896G>C (p.Glu632Asp) c.1782G>C (p.Glu594Asp) c.1803G>C (p.Glu601Asp) c.1936G>C (n.1936G>C) c.1523G>C c.1065G>C (p.Glu355Asp) c.*1631G>C (n.*1631G>C) c.753G>C (p.Glu251Asp) c.444G>C (p.Glu148Asp) n.1727C>G c.1887G>C (p.Glu629Asp) c.1878G>C (p.Glu626Asp) c.1905G>C (p.Glu635Asp) c.1902G>C (p.Glu634Asp) c.1884G>C (p.Glu628Asp) c.1827G>C (p.Glu609Asp) c.1761G>C (p.Glu587Asp) c.327G>C (p.Glu109Asp) c.1740G>C (p.Glu580Asp) c.1875G>C (p.Glu625Asp) c.1881G>C (p.Glu627Asp) c.1797G>C (p.Glu599Asp) c.1725G>C (p.Glu575Asp) c.1659G>C (p.Glu553Asp) c.1020G>C (p.Glu340Asp) c.1638G>C (p.Glu546Asp) | |
9 | g.137776722G= | CA1884666496 | EHMT1 | c.1896G= (p.Glu632=) c.1782G= (p.Glu594=) c.1803G= (p.Glu601=) c.1936G= (n.1936G=) c.1523G= c.1065G= (p.Glu355=) c.*1631G= (n.*1631G=) c.753G= (p.Glu251=) c.444G= (p.Glu148=) n.1727C= c.1887G= (p.Glu629=) c.1878G= (p.Glu626=) c.1905G= (p.Glu635=) c.1902G= (p.Glu634=) c.1884G= (p.Glu628=) c.1827G= (p.Glu609=) c.1761G= (p.Glu587=) c.327G= (p.Glu109=) c.1740G= (p.Glu580=) c.1875G= (p.Glu625=) c.1881G= (p.Glu627=) c.1797G= (p.Glu599=) c.1725G= (p.Glu575=) c.1659G= (p.Glu553=) c.1020G= (p.Glu340=) c.1638G= (p.Glu546=) | |
9 | g.137776722G>T | CA5374754 | EHMT1 | c.1896G>T (p.Glu632Asp) c.1782G>T (p.Glu594Asp) c.1803G>T (p.Glu601Asp) c.1936G>T (n.1936G>T) c.1523G>T c.1065G>T (p.Glu355Asp) c.*1631G>T (n.*1631G>T) c.753G>T (p.Glu251Asp) c.444G>T (p.Glu148Asp) n.1727C>A c.1887G>T (p.Glu629Asp) c.1878G>T (p.Glu626Asp) c.1905G>T (p.Glu635Asp) c.1902G>T (p.Glu634Asp) c.1884G>T (p.Glu628Asp) c.1827G>T (p.Glu609Asp) c.1761G>T (p.Glu587Asp) c.327G>T (p.Glu109Asp) c.1740G>T (p.Glu580Asp) c.1875G>T (p.Glu625Asp) c.1881G>T (p.Glu627Asp) c.1797G>T (p.Glu599Asp) c.1725G>T (p.Glu575Asp) c.1659G>T (p.Glu553Asp) c.1020G>T (p.Glu340Asp) c.1638G>T (p.Glu546Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137776723G>A | CA375776303 | EHMT1 | c.1897G>A (p.Glu633Lys) c.1783G>A (p.Glu595Lys) c.1804G>A (p.Glu602Lys) c.1937G>A (n.1937G>A) c.1524G>A c.1066G>A (p.Glu356Lys) c.*1632G>A (n.*1632G>A) c.754G>A (p.Glu252Lys) c.445G>A (p.Glu149Lys) n.1726C>T c.1888G>A (p.Glu630Lys) c.1879G>A (p.Glu627Lys) c.1906G>A (p.Glu636Lys) c.1903G>A (p.Glu635Lys) c.1885G>A (p.Glu629Lys) c.1828G>A (p.Glu610Lys) c.1762G>A (p.Glu588Lys) c.328G>A (p.Glu110Lys) c.1741G>A (p.Glu581Lys) c.1876G>A (p.Glu626Lys) c.1882G>A (p.Glu628Lys) c.1798G>A (p.Glu600Lys) c.1726G>A (p.Glu576Lys) c.1660G>A (p.Glu554Lys) c.1021G>A (p.Glu341Lys) c.1639G>A (p.Glu547Lys) | |
9 | g.137776723G>C | CA375776304 | EHMT1 | c.1897G>C (p.Glu633Gln) c.1783G>C (p.Glu595Gln) c.1804G>C (p.Glu602Gln) c.1937G>C (n.1937G>C) c.1524G>C c.1066G>C (p.Glu356Gln) c.*1632G>C (n.*1632G>C) c.754G>C (p.Glu252Gln) c.445G>C (p.Glu149Gln) n.1726C>G c.1888G>C (p.Glu630Gln) c.1879G>C (p.Glu627Gln) c.1906G>C (p.Glu636Gln) c.1903G>C (p.Glu635Gln) c.1885G>C (p.Glu629Gln) c.1828G>C (p.Glu610Gln) c.1762G>C (p.Glu588Gln) c.328G>C (p.Glu110Gln) c.1741G>C (p.Glu581Gln) c.1876G>C (p.Glu626Gln) c.1882G>C (p.Glu628Gln) c.1798G>C (p.Glu600Gln) c.1726G>C (p.Glu576Gln) c.1660G>C (p.Glu554Gln) c.1021G>C (p.Glu341Gln) c.1639G>C (p.Glu547Gln) | |
9 | g.137776723G>T | CA375776305 | EHMT1 | c.1897G>T (p.Glu633Ter) c.1783G>T (p.Glu595Ter) c.1804G>T (p.Glu602Ter) c.1937G>T (n.1937G>T) c.1524G>T c.1066G>T (p.Glu356Ter) c.*1632G>T (n.*1632G>T) c.754G>T (p.Glu252Ter) c.445G>T (p.Glu149Ter) n.1726C>A c.1888G>T (p.Glu630Ter) c.1879G>T (p.Glu627Ter) c.1906G>T (p.Glu636Ter) c.1903G>T (p.Glu635Ter) c.1885G>T (p.Glu629Ter) c.1828G>T (p.Glu610Ter) c.1762G>T (p.Glu588Ter) c.328G>T (p.Glu110Ter) c.1741G>T (p.Glu581Ter) c.1876G>T (p.Glu626Ter) c.1882G>T (p.Glu628Ter) c.1798G>T (p.Glu600Ter) c.1726G>T (p.Glu576Ter) c.1660G>T (p.Glu554Ter) c.1021G>T (p.Glu341Ter) c.1639G>T (p.Glu547Ter) | |
9 | g.137776724A>C | CA375776306 | EHMT1 | c.1898A>C (p.Glu633Ala) c.1784A>C (p.Glu595Ala) c.1805A>C (p.Glu602Ala) c.1938A>C (n.1938A>C) c.1525A>C c.1067A>C (p.Glu356Ala) c.*1633A>C (n.*1633A>C) c.755A>C (p.Glu252Ala) c.446A>C (p.Glu149Ala) n.1725T>G c.1889A>C (p.Glu630Ala) c.1880A>C (p.Glu627Ala) c.1907A>C (p.Glu636Ala) c.1904A>C (p.Glu635Ala) c.1886A>C (p.Glu629Ala) c.1829A>C (p.Glu610Ala) c.1763A>C (p.Glu588Ala) c.329A>C (p.Glu110Ala) c.1742A>C (p.Glu581Ala) c.1877A>C (p.Glu626Ala) c.1883A>C (p.Glu628Ala) c.1799A>C (p.Glu600Ala) c.1727A>C (p.Glu576Ala) c.1661A>C (p.Glu554Ala) c.1022A>C (p.Glu341Ala) c.1640A>C (p.Glu547Ala) | |
9 | g.137776724A>G | CA375776308 | EHMT1 | c.1898A>G (p.Glu633Gly) c.1784A>G (p.Glu595Gly) c.1805A>G (p.Glu602Gly) c.1938A>G (n.1938A>G) c.1525A>G c.1067A>G (p.Glu356Gly) c.*1633A>G (n.*1633A>G) c.755A>G (p.Glu252Gly) c.446A>G (p.Glu149Gly) n.1725T>C c.1889A>G (p.Glu630Gly) c.1880A>G (p.Glu627Gly) c.1907A>G (p.Glu636Gly) c.1904A>G (p.Glu635Gly) c.1886A>G (p.Glu629Gly) c.1829A>G (p.Glu610Gly) c.1763A>G (p.Glu588Gly) c.329A>G (p.Glu110Gly) c.1742A>G (p.Glu581Gly) c.1877A>G (p.Glu626Gly) c.1883A>G (p.Glu628Gly) c.1799A>G (p.Glu600Gly) c.1727A>G (p.Glu576Gly) c.1661A>G (p.Glu554Gly) c.1022A>G (p.Glu341Gly) c.1640A>G (p.Glu547Gly) | |
9 | g.137776724A>T | CA375776310 | EHMT1 | c.1898A>T (p.Glu633Val) c.1784A>T (p.Glu595Val) c.1805A>T (p.Glu602Val) c.1938A>T (n.1938A>T) c.1525A>T c.1067A>T (p.Glu356Val) c.*1633A>T (n.*1633A>T) c.755A>T (p.Glu252Val) c.446A>T (p.Glu149Val) n.1725T>A c.1889A>T (p.Glu630Val) c.1880A>T (p.Glu627Val) c.1907A>T (p.Glu636Val) c.1904A>T (p.Glu635Val) c.1886A>T (p.Glu629Val) c.1829A>T (p.Glu610Val) c.1763A>T (p.Glu588Val) c.329A>T (p.Glu110Val) c.1742A>T (p.Glu581Val) c.1877A>T (p.Glu626Val) c.1883A>T (p.Glu628Val) c.1799A>T (p.Glu600Val) c.1727A>T (p.Glu576Val) c.1661A>T (p.Glu554Val) c.1022A>T (p.Glu341Val) c.1640A>T (p.Glu547Val) | |
9 | g.137776725G>A | CA467874088 | EHMT1 | c.1899G>A (p.Glu633=) c.1785G>A (p.Glu595=) c.1806G>A (p.Glu602=) c.1939G>A (n.1939G>A) c.1526G>A c.1068G>A (p.Glu356=) c.*1634G>A (n.*1634G>A) c.756G>A (p.Glu252=) c.447G>A (p.Glu149=) n.1724C>T c.1890G>A (p.Glu630=) c.1881G>A (p.Glu627=) c.1908G>A (p.Glu636=) c.1905G>A (p.Glu635=) c.1887G>A (p.Glu629=) c.1830G>A (p.Glu610=) c.1764G>A (p.Glu588=) c.330G>A (p.Glu110=) c.1743G>A (p.Glu581=) c.1878G>A (p.Glu626=) c.1884G>A (p.Glu628=) c.1800G>A (p.Glu600=) c.1728G>A (p.Glu576=) c.1662G>A (p.Glu554=) c.1023G>A (p.Glu341=) c.1641G>A (p.Glu547=) | |
9 | g.137776725G>C | CA375776313 | EHMT1 | c.1899G>C (p.Glu633Asp) c.1785G>C (p.Glu595Asp) c.1806G>C (p.Glu602Asp) c.1939G>C (n.1939G>C) c.1526G>C c.1068G>C (p.Glu356Asp) c.*1634G>C (n.*1634G>C) c.756G>C (p.Glu252Asp) c.447G>C (p.Glu149Asp) n.1724C>G c.1890G>C (p.Glu630Asp) c.1881G>C (p.Glu627Asp) c.1908G>C (p.Glu636Asp) c.1905G>C (p.Glu635Asp) c.1887G>C (p.Glu629Asp) c.1830G>C (p.Glu610Asp) c.1764G>C (p.Glu588Asp) c.330G>C (p.Glu110Asp) c.1743G>C (p.Glu581Asp) c.1878G>C (p.Glu626Asp) c.1884G>C (p.Glu628Asp) c.1800G>C (p.Glu600Asp) c.1728G>C (p.Glu576Asp) c.1662G>C (p.Glu554Asp) c.1023G>C (p.Glu341Asp) c.1641G>C (p.Glu547Asp) | |
9 | g.137776725G>T | CA375776316 | EHMT1 | c.1899G>T (p.Glu633Asp) c.1785G>T (p.Glu595Asp) c.1806G>T (p.Glu602Asp) c.1939G>T (n.1939G>T) c.1526G>T c.1068G>T (p.Glu356Asp) c.*1634G>T (n.*1634G>T) c.756G>T (p.Glu252Asp) c.447G>T (p.Glu149Asp) n.1724C>A c.1890G>T (p.Glu630Asp) c.1881G>T (p.Glu627Asp) c.1908G>T (p.Glu636Asp) c.1905G>T (p.Glu635Asp) c.1887G>T (p.Glu629Asp) c.1830G>T (p.Glu610Asp) c.1764G>T (p.Glu588Asp) c.330G>T (p.Glu110Asp) c.1743G>T (p.Glu581Asp) c.1878G>T (p.Glu626Asp) c.1884G>T (p.Glu628Asp) c.1800G>T (p.Glu600Asp) c.1728G>T (p.Glu576Asp) c.1662G>T (p.Glu554Asp) c.1023G>T (p.Glu341Asp) c.1641G>T (p.Glu547Asp) | |
9 | g.137776726A= | CA1884666497 | EHMT1 | c.1900A= (p.Ser634=) c.1786A= (p.Ser596=) c.1807A= (p.Ser603=) c.1940A= (n.1940A=) c.1527A= c.1069A= (p.Ser357=) c.*1635A= (n.*1635A=) c.757A= (p.Ser253=) c.448A= (p.Ser150=) n.1723T= c.1891A= (p.Ser631=) c.1882A= (p.Ser628=) c.1909A= (p.Ser637=) c.1906A= (p.Ser636=) c.1888A= (p.Ser630=) c.1831A= (p.Ser611=) c.1765A= (p.Ser589=) c.331A= (p.Ser111=) c.1744A= (p.Ser582=) c.1879A= (p.Ser627=) c.1885A= (p.Ser629=) c.1801A= (p.Ser601=) c.1729A= (p.Ser577=) c.1663A= (p.Ser555=) c.1024A= (p.Ser342=) c.1642A= (p.Ser548=) | |
9 | g.137776726A>C | CA375776326 | EHMT1 | c.1900A>C (p.Ser634Arg) c.1786A>C (p.Ser596Arg) c.1807A>C (p.Ser603Arg) c.1940A>C (n.1940A>C) c.1527A>C c.1069A>C (p.Ser357Arg) c.*1635A>C (n.*1635A>C) c.757A>C (p.Ser253Arg) c.448A>C (p.Ser150Arg) n.1723T>G c.1891A>C (p.Ser631Arg) c.1882A>C (p.Ser628Arg) c.1909A>C (p.Ser637Arg) c.1906A>C (p.Ser636Arg) c.1888A>C (p.Ser630Arg) c.1831A>C (p.Ser611Arg) c.1765A>C (p.Ser589Arg) c.331A>C (p.Ser111Arg) c.1744A>C (p.Ser582Arg) c.1879A>C (p.Ser627Arg) c.1885A>C (p.Ser629Arg) c.1801A>C (p.Ser601Arg) c.1729A>C (p.Ser577Arg) c.1663A>C (p.Ser555Arg) c.1024A>C (p.Ser342Arg) c.1642A>C (p.Ser548Arg) | |
9 | g.137776726A>G | CA375776323 | EHMT1 | c.1900A>G (p.Ser634Gly) c.1786A>G (p.Ser596Gly) c.1807A>G (p.Ser603Gly) c.1940A>G (n.1940A>G) c.1527A>G c.1069A>G (p.Ser357Gly) c.*1635A>G (n.*1635A>G) c.757A>G (p.Ser253Gly) c.448A>G (p.Ser150Gly) n.1723T>C c.1891A>G (p.Ser631Gly) c.1882A>G (p.Ser628Gly) c.1909A>G (p.Ser637Gly) c.1906A>G (p.Ser636Gly) c.1888A>G (p.Ser630Gly) c.1831A>G (p.Ser611Gly) c.1765A>G (p.Ser589Gly) c.331A>G (p.Ser111Gly) c.1744A>G (p.Ser582Gly) c.1879A>G (p.Ser627Gly) c.1885A>G (p.Ser629Gly) c.1801A>G (p.Ser601Gly) c.1729A>G (p.Ser577Gly) c.1663A>G (p.Ser555Gly) c.1024A>G (p.Ser342Gly) c.1642A>G (p.Ser548Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137776726A>T | CA375776320 | EHMT1 | c.1900A>T (p.Ser634Cys) c.1786A>T (p.Ser596Cys) c.1807A>T (p.Ser603Cys) c.1940A>T (n.1940A>T) c.1527A>T c.1069A>T (p.Ser357Cys) c.*1635A>T (n.*1635A>T) c.757A>T (p.Ser253Cys) c.448A>T (p.Ser150Cys) n.1723T>A c.1891A>T (p.Ser631Cys) c.1882A>T (p.Ser628Cys) c.1909A>T (p.Ser637Cys) c.1906A>T (p.Ser636Cys) c.1888A>T (p.Ser630Cys) c.1831A>T (p.Ser611Cys) c.1765A>T (p.Ser589Cys) c.331A>T (p.Ser111Cys) c.1744A>T (p.Ser582Cys) c.1879A>T (p.Ser627Cys) c.1885A>T (p.Ser629Cys) c.1801A>T (p.Ser601Cys) c.1729A>T (p.Ser577Cys) c.1663A>T (p.Ser555Cys) c.1024A>T (p.Ser342Cys) c.1642A>T (p.Ser548Cys) | |
9 | g.137776727G>A | CA375776330 | EHMT1 | c.1901G>A (p.Ser634Asn) c.1787G>A (p.Ser596Asn) c.1808G>A (p.Ser603Asn) c.1941G>A (n.1941G>A) c.1528G>A c.1070G>A (p.Ser357Asn) c.*1636G>A (n.*1636G>A) c.758G>A (p.Ser253Asn) c.449G>A (p.Ser150Asn) n.1722C>T c.1892G>A (p.Ser631Asn) c.1883G>A (p.Ser628Asn) c.1910G>A (p.Ser637Asn) c.1907G>A (p.Ser636Asn) c.1889G>A (p.Ser630Asn) c.1832G>A (p.Ser611Asn) c.1766G>A (p.Ser589Asn) c.332G>A (p.Ser111Asn) c.1745G>A (p.Ser582Asn) c.1880G>A (p.Ser627Asn) c.1886G>A (p.Ser629Asn) c.1802G>A (p.Ser601Asn) c.1730G>A (p.Ser577Asn) c.1664G>A (p.Ser555Asn) c.1025G>A (p.Ser342Asn) c.1643G>A (p.Ser548Asn) | |
9 | g.137776727G>C | CA375776336 | EHMT1 | c.1901G>C (p.Ser634Thr) c.1787G>C (p.Ser596Thr) c.1808G>C (p.Ser603Thr) c.1941G>C (n.1941G>C) c.1528G>C c.1070G>C (p.Ser357Thr) c.*1636G>C (n.*1636G>C) c.758G>C (p.Ser253Thr) c.449G>C (p.Ser150Thr) n.1722C>G c.1892G>C (p.Ser631Thr) c.1883G>C (p.Ser628Thr) c.1910G>C (p.Ser637Thr) c.1907G>C (p.Ser636Thr) c.1889G>C (p.Ser630Thr) c.1832G>C (p.Ser611Thr) c.1766G>C (p.Ser589Thr) c.332G>C (p.Ser111Thr) c.1745G>C (p.Ser582Thr) c.1880G>C (p.Ser627Thr) c.1886G>C (p.Ser629Thr) c.1802G>C (p.Ser601Thr) c.1730G>C (p.Ser577Thr) c.1664G>C (p.Ser555Thr) c.1025G>C (p.Ser342Thr) c.1643G>C (p.Ser548Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137776727G= | CA1884666498 | EHMT1 | c.1901G= (p.Ser634=) c.1787G= (p.Ser596=) c.1808G= (p.Ser603=) c.1941G= (n.1941G=) c.1528G= c.1070G= (p.Ser357=) c.*1636G= (n.*1636G=) c.758G= (p.Ser253=) c.449G= (p.Ser150=) n.1722C= c.1892G= (p.Ser631=) c.1883G= (p.Ser628=) c.1910G= (p.Ser637=) c.1907G= (p.Ser636=) c.1889G= (p.Ser630=) c.1832G= (p.Ser611=) c.1766G= (p.Ser589=) c.332G= (p.Ser111=) c.1745G= (p.Ser582=) c.1880G= (p.Ser627=) c.1886G= (p.Ser629=) c.1802G= (p.Ser601=) c.1730G= (p.Ser577=) c.1664G= (p.Ser555=) c.1025G= (p.Ser342=) c.1643G= (p.Ser548=) | |
9 | g.137776727G>T | CA375776334 | EHMT1 | c.1901G>T (p.Ser634Ile) c.1787G>T (p.Ser596Ile) c.1808G>T (p.Ser603Ile) c.1941G>T (n.1941G>T) c.1528G>T c.1070G>T (p.Ser357Ile) c.*1636G>T (n.*1636G>T) c.758G>T (p.Ser253Ile) c.449G>T (p.Ser150Ile) n.1722C>A c.1892G>T (p.Ser631Ile) c.1883G>T (p.Ser628Ile) c.1910G>T (p.Ser637Ile) c.1907G>T (p.Ser636Ile) c.1889G>T (p.Ser630Ile) c.1832G>T (p.Ser611Ile) c.1766G>T (p.Ser589Ile) c.332G>T (p.Ser111Ile) c.1745G>T (p.Ser582Ile) c.1880G>T (p.Ser627Ile) c.1886G>T (p.Ser629Ile) c.1802G>T (p.Ser601Ile) c.1730G>T (p.Ser577Ile) c.1664G>T (p.Ser555Ile) c.1025G>T (p.Ser342Ile) c.1643G>T (p.Ser548Ile) | ClinVar dbSNP |