Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137776589_137776637delCA2695211854EHMT1c.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
9g.137776636C>ACA375775586EHMT1c.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
9g.137776636C=CA1884666465EHMT1c.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=)
9g.137776636C>GCA375775587EHMT1c.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)
9g.137776636C>TCA345050EHMT1c.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
9g.137776637A=CA1884666466EHMT1c.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=)
9g.137776637A>CCA375775591EHMT1c.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)
9g.137776637A>GCA375775593EHMT1c.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
9g.137776637A>TCA375775597EHMT1c.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)
9g.137776638G>ACA467874043EHMT1c.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
9g.137776638G>CCA375775602EHMT1c.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)
9g.137776638G=CA1884666467EHMT1c.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=)
9g.137776638G>TCA375775613EHMT1c.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)
9g.137776639C>ACA375775621EHMT1c.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)
9g.137776639C=CA1884666468EHMT1c.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=)
9g.137776639C>GCA375775622EHMT1c.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)
9g.137776639C>TCA375775631EHMT1c.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
9g.137776640C>ACA375775636EHMT1c.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)
9g.137776640C=CA1884666469EHMT1c.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=)
9g.137776640C>GCA375775642EHMT1c.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)
9g.137776640C>TCA5374741EHMT1c.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
9g.137776641C>ACA5374743EHMT1c.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
9g.137776641C=CA1884666470EHMT1c.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=)
9g.137776641C>GCA467874044EHMT1c.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=)
9g.137776641C>TCA5374742EHMT1c.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
9g.137776642G>ACA5374744EHMT1c.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
9g.137776642G>CCA375775665EHMT1c.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)
9g.137776642G=CA1884666471EHMT1c.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=)
9g.137776642G>TCA375775661EHMT1c.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
9g.137776643A>CCA375775671EHMT1c.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)
9g.137776643A>GCA375775673EHMT1c.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)
9g.137776643A>TCA375775675EHMT1c.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)
9g.137776644G>ACA467874045EHMT1c.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=)
9g.137776644G>CCA375775676EHMT1c.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)
9g.137776644G>TCA375775678EHMT1c.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)
9g.137776645A=CA1884666472EHMT1c.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=)
9g.137776645A>CCA375775680EHMT1c.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)
9g.137776645A>GCA375775682EHMT1c.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
9g.137776645A>TCA375775685EHMT1c.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)
9g.137776646G>ACA375775694EHMT1c.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)
9g.137776646G>CCA375775704EHMT1c.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
9g.137776646G>TCA375775705EHMT1c.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)
9g.137776647C>ACA375775711EHMT1c.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)
9g.137776647C>GCA375775720EHMT1c.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)
9g.137776647C>TCA467874046EHMT1c.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=)
9g.137776648A>CCA375775732EHMT1c.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)
9g.137776648A>GCA375775731EHMT1c.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)
9g.137776648A>TCA375775727EHMT1c.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)
9g.137776649G>ACA375775737EHMT1c.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)
9g.137776649G>CCA375775751EHMT1c.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)
9g.137776649G>TCA375775740EHMT1c.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)
9g.137776650C>ACA375775754EHMT1c.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
9g.137776650C=CA1884666473EHMT1c.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=)
9g.137776650C>GCA375775755EHMT1c.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)
9g.137776650C>TCA5374745EHMT1c.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
9g.137776651A=CA1884666474EHMT1c.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=)
9g.137776651A>CCA201804039EHMT1c.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
9g.137776651A>GCA375775758EHMT1c.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
9g.137776651A>TCA375775756EHMT1c.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)
9g.137776652T>ACA375775765EHMT1c.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)
9g.137776652T>CCA375775766EHMT1c.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)
9g.137776652T>GCA375775768EHMT1c.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)
9g.137776653C>ACA467874047EHMT1c.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=)
9g.137776653C=CA1884666475EHMT1c.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=)
9g.137776653C>GCA375775769EHMT1c.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
9g.137776653C>TCA467874048EHMT1c.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
9g.137776654T>ACA375775770EHMT1c.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)
9g.137776654T>CCA375775771EHMT1c.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)
9g.137776654T>GCA375775772EHMT1c.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)
9g.137776655C>ACA375775779EHMT1c.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)
9g.137776655C>GCA375775781EHMT1c.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)
9g.137776655C>TCA375775783EHMT1c.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)
9g.137776656T>ACA467874049EHMT1c.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=)
9g.137776656T>CCA467874050EHMT1c.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=)
9g.137776656T>GCA467874051EHMT1c.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=)
9g.137776657C>ACA375775795EHMT1c.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)
9g.137776657C>GCA375775794EHMT1c.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)
9g.137776657C>TCA375775785EHMT1c.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)
9g.137776658A>CCA375775798EHMT1c.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)
9g.137776658A>GCA375775805EHMT1c.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)
9g.137776658A>TCA375775807EHMT1c.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)
9g.137776659C>ACA375775811EHMT1c.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)
9g.137776659C>GCA375775812EHMT1c.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)
9g.137776659C>TCA467874052EHMT1c.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=)
9g.137776660C>ACA375775814EHMT1c.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)
9g.137776660C=CA1884666476EHMT1c.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=)
9g.137776660C>GCA375775815EHMT1c.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)
9g.137776660C>TCA375775816EHMT1c.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
9g.137776661G>ACA5374746EHMT1c.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
9g.137776661G>CCA375775819EHMT1c.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)
9g.137776661G=CA1884666477EHMT1c.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=)
9g.137776661G>TCA375775822EHMT1c.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)
9g.137776662T>ACA467874053EHMT1c.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=)
9g.137776662T>CCA467874054EHMT1c.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=)
9g.137776662T>GCA467874055EHMT1c.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=)
9g.137776663T>ACA375775835EHMT1c.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)
9g.137776663T>CCA375775825EHMT1c.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)
9g.137776663T>GCA375775823EHMT1c.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)
9g.137776664T>ACA375775838EHMT1c.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)
9g.137776664T>CCA375775840EHMT1c.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)
9g.137776664T>GCA375775845EHMT1c.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)
9g.137776665C>ACA375775847EHMT1c.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)
9g.137776665C>GCA375775850EHMT1c.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)
9g.137776665C>TCA467874056EHMT1c.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=)
9g.137776666C>ACA375775854EHMT1c.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)
9g.137776666C>GCA375775859EHMT1c.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)
9g.137776666C>TCA375775862EHMT1c.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
9g.137776667A>CCA375775863EHMT1c.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)
9g.137776667A>GCA375775864EHMT1c.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)
9g.137776667A>TCA375775867EHMT1c.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)
9g.137776668C>ACA375775870EHMT1c.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)
9g.137776668C>GCA375775871EHMT1c.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)
9g.137776668C>TCA467874057EHMT1c.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=)
9g.137776669A=CA1884666478EHMT1c.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=)
9g.137776669A>CCA375775872EHMT1c.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)
9g.137776669A>GCA375775878EHMT1c.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
9g.137776669A>TCA375775874EHMT1c.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)
9g.137776670A=CA1884666479EHMT1c.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=)
9g.137776670A>CCA375775894EHMT1c.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)
9g.137776670A>GCA375775898EHMT1c.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
9g.137776670A>TCA375775906EHMT1c.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)
9g.137776671A>CCA375775909EHMT1c.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)
9g.137776671A>GCA467874058EHMT1c.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=)
9g.137776671A>TCA375775910EHMT1c.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
9g.137776672G>ACA375775911EHMT1c.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)
9g.137776672G>CCA375775912EHMT1c.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)
9g.137776672G>TCA375775920EHMT1c.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)
9g.137776673A>CCA375775922EHMT1c.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)
9g.137776673A>GCA375775923EHMT1c.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)
9g.137776673A>TCA375775926EHMT1c.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)
9g.137776674C>ACA375775927EHMT1c.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)
9g.137776674C=CA1884666480EHMT1c.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=)
9g.137776674C>GCA5374747EHMT1c.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
9g.137776674C>TCA467874059EHMT1c.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
9g.137776675T>ACA375775928EHMT1c.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)
9g.137776675T>CCA375775932EHMT1c.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)
9g.137776675T>GCA375775929EHMT1c.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)
9g.137776676G>ACA375775936EHMT1c.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)
9g.137776676G>CCA375775940EHMT1c.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)
9g.137776676G>TCA375775942EHMT1c.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)
9g.137776677T>ACA375775946EHMT1c.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)
9g.137776677T>CCA467874060EHMT1c.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
9g.137776677T>GCA375775952EHMT1c.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)
9g.137776678G>ACA375775961EHMT1c.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)
9g.137776678G>CCA375775967EHMT1c.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)
9g.137776678G>TCA375775968EHMT1c.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)
9g.137776679C>ACA375775971EHMT1c.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)
9g.137776679C>GCA375775972EHMT1c.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)
9g.137776679C>TCA375775974EHMT1c.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)
9g.137776680C>ACA467874061EHMT1c.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=)
9g.137776680C=CA1884666481EHMT1c.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=)
9g.137776680C>GCA467874062EHMT1c.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=)
9g.137776680C>TCA467874063EHMT1c.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
9g.137776681T>ACA375775986EHMT1c.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)
9g.137776681T>CCA375775984EHMT1c.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)
9g.137776681T>GCA375775981EHMT1c.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)
9g.137776682C>ACA375775994EHMT1c.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)
9g.137776682C>GCA375775996EHMT1c.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)
9g.137776682C>TCA375776010EHMT1c.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)
9g.137776683T>ACA467874064EHMT1c.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=)
9g.137776683T>CCA467874065EHMT1c.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=)
9g.137776683T>GCA467874066EHMT1c.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=)
9g.137776684C>ACA5374748EHMT1c.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
9g.137776684C=CA1884666482EHMT1c.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=)
9g.137776684C>GCA375776013EHMT1c.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)
9g.137776684C>TCA345052EHMT1c.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
9g.137776685G>ACA5374749EHMT1c.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
9g.137776685G>CCA375776030EHMT1c.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)
9g.137776685G=CA1884666483EHMT1c.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=)
9g.137776685G>TCA375776037EHMT1c.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
9g.137776686A>CCA467874067EHMT1c.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
9g.137776686A>GCA467874068EHMT1c.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=)
9g.137776686A>TCA467874069EHMT1c.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=)
9g.137776687G>ACA375776039EHMT1c.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
9g.137776687G>CCA375776041EHMT1c.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)
9g.137776687G=CA1884666484EHMT1c.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=)
9g.137776687G>TCA375776045EHMT1c.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)
9g.137776688T>ACA375776055EHMT1c.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)
9g.137776688T>CCA375776053EHMT1c.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)
9g.137776688T>GCA375776049EHMT1c.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
9g.137776688T=CA1884666485EHMT1c.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=)
9g.137776689C>ACA467874070EHMT1c.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=)
9g.137776689C>GCA467874071EHMT1c.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
9g.137776689C>TCA467874072EHMT1c.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=)
9g.137776690A=CA1884666486EHMT1c.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=)
9g.137776690A>CCA5374750EHMT1c.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
9g.137776690A>GCA375776062EHMT1c.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
9g.137776690A>TCA375776064EHMT1c.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)
9g.137776691A=CA1884666487EHMT1c.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=)
9g.137776691A>CCA375776072EHMT1c.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)
9g.137776691A>GCA231083EHMT1c.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
9g.137776691A>TCA375776078EHMT1c.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)
9g.137776692T>ACA375776085EHMT1c.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)
9g.137776692T>CCA467874073EHMT1c.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=)
9g.137776692T>GCA375776082EHMT1c.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
9g.137776693A=CA1884666488EHMT1c.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=)
9g.137776693A>CCA375776089EHMT1c.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)
9g.137776693A>GCA375776090EHMT1c.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
9g.137776693A>TCA375776094EHMT1c.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)
9g.137776694A>CCA375776096EHMT1c.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)
9g.137776694A>GCA375776098EHMT1c.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)
9g.137776694A>TCA375776101EHMT1c.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)
9g.137776695C>ACA375776105EHMT1c.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
9g.137776695C=CA1884666489EHMT1c.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=)
9g.137776695C>GCA375776109EHMT1c.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)
9g.137776695C>TCA149293EHMT1c.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
9g.137776696G>ACA5374752EHMT1c.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
9g.137776696G>CCA375776110EHMT1c.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
9g.137776696G=CA1884666490EHMT1c.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=)
9g.137776696G>TCA5374751EHMT1c.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
9g.137776697C>ACA375776112EHMT1c.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)
9g.137776697C>GCA375776115EHMT1c.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)
9g.137776697C>TCA375776117EHMT1c.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
9g.137776698C>ACA467874074EHMT1c.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=)
9g.137776698C>GCA467874076EHMT1c.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=)
9g.137776698C>TCA467874075EHMT1c.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
9g.137776699A>CCA375776118EHMT1c.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)
9g.137776699A>GCA375776119EHMT1c.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)
9g.137776699A>TCA375776120EHMT1c.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)
9g.137776700G>ACA375776123EHMT1c.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
9g.137776700G>CCA375776126EHMT1c.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)
9g.137776700G>TCA375776127EHMT1c.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)
9g.137776701C>ACA375776133EHMT1c.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)
9g.137776701C>GCA375776134EHMT1c.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)
9g.137776701C>TCA467874077EHMT1c.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
9g.137776702T>ACA375776140EHMT1c.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)
9g.137776702T>CCA375776144EHMT1c.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)
9g.137776702T>GCA375776143EHMT1c.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)
9g.137776703A=CA1884666491EHMT1c.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=)
9g.137776703A>CCA375776146EHMT1c.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)
9g.137776703A>GCA5374753EHMT1c.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
9g.137776703A>TCA375776147EHMT1c.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)
9g.137776704T>ACA375776149EHMT1c.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)
9g.137776704T>CCA467874078EHMT1c.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
9g.137776704T>GCA375776151EHMT1c.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)
9g.137776704T=CA1884666492EHMT1c.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=)
9g.137776705T>ACA375776165EHMT1c.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)
9g.137776705T>CCA375776166EHMT1c.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)
9g.137776705T>GCA375776170EHMT1c.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)
9g.137776706G>ACA375776175EHMT1c.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)
9g.137776706G>CCA375776179EHMT1c.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)
9g.137776706G>TCA375776192EHMT1c.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)
9g.137776707T>ACA375776195EHMT1c.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)
9g.137776707T>CCA467874079EHMT1c.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=)
9g.137776707T>GCA375776197EHMT1c.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)
9g.137776708C>ACA375776201EHMT1c.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)
9g.137776708C>GCA375776205EHMT1c.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)
9g.137776708C>TCA375776209EHMT1c.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
9g.137776709C>ACA375776214EHMT1c.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)
9g.137776709C=CA1884666493EHMT1c.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=)
9g.137776709C>GCA375776219EHMT1c.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)
9g.137776709C>TCA375776216EHMT1c.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
9g.137776710C>ACA467874080EHMT1c.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=)
9g.137776710C=CA1884666494EHMT1c.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=)
9g.137776710C>GCA201804088EHMT1c.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
9g.137776710C>TCA467874081EHMT1c.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
9g.137776711C>ACA375776227EHMT1c.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)
9g.137776711C>GCA375776230EHMT1c.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
9g.137776711C>TCA375776232EHMT1c.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)
9g.137776712A>CCA375776237EHMT1c.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)
9g.137776712A>GCA375776239EHMT1c.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)
9g.137776712A>TCA375776243EHMT1c.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)
9g.137776713C>ACA375776248EHMT1c.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)
9g.137776713C>GCA375776250EHMT1c.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)
9g.137776713C>TCA467874082EHMT1c.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
9g.137776714T>ACA375776260EHMT1c.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)
9g.137776714T>CCA375776257EHMT1c.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)
9g.137776714T>GCA375776254EHMT1c.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)
9g.137776715G>ACA375776261EHMT1c.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)
9g.137776715G>CCA375776262EHMT1c.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)
9g.137776715G>TCA375776263EHMT1c.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)
9g.137776716T>ACA375776265EHMT1c.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)
9g.137776716T>CCA467874083EHMT1c.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=)
9g.137776716T>GCA375776268EHMT1c.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)
9g.137776717G>ACA375776275EHMT1c.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)
9g.137776717G>CCA375776273EHMT1c.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)
9g.137776717G>TCA375776271EHMT1c.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)
9g.137776718G>ACA375776276EHMT1c.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
9g.137776718G>CCA375776277EHMT1c.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)
9g.137776718G=CA1884666495EHMT1c.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=)
9g.137776718G>TCA375776278EHMT1c.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)
9g.137776719G>ACA467874084EHMT1c.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
9g.137776719G>CCA467874085EHMT1c.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=)
9g.137776719G>TCA467874086EHMT1c.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=)
9g.137776720G>ACA375776279EHMT1c.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)
9g.137776720G>CCA375776281EHMT1c.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)
9g.137776720G>TCA375776282EHMT1c.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)
9g.137776721A>CCA375776286EHMT1c.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)
9g.137776721A>GCA375776294EHMT1c.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)
9g.137776721A>TCA375776290EHMT1c.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)
9g.137776722G>ACA467874087EHMT1c.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
9g.137776722G>CCA375776297EHMT1c.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)
9g.137776722G=CA1884666496EHMT1c.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=)
9g.137776722G>TCA5374754EHMT1c.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
9g.137776723G>ACA375776303EHMT1c.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)
9g.137776723G>CCA375776304EHMT1c.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)
9g.137776723G>TCA375776305EHMT1c.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)
9g.137776724A>CCA375776306EHMT1c.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)
9g.137776724A>GCA375776308EHMT1c.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)
9g.137776724A>TCA375776310EHMT1c.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)
9g.137776725G>ACA467874088EHMT1c.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=)
9g.137776725G>CCA375776313EHMT1c.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)
9g.137776725G>TCA375776316EHMT1c.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)
9g.137776726A=CA1884666497EHMT1c.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=)
9g.137776726A>CCA375776326EHMT1c.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)
9g.137776726A>GCA375776323EHMT1c.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
9g.137776726A>TCA375776320EHMT1c.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)
9g.137776727G>ACA375776330EHMT1c.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)
9g.137776727G>CCA375776336EHMT1c.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
9g.137776727G=CA1884666498EHMT1c.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=)
9g.137776727G>TCA375776334EHMT1c.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
9g.137776728C>ACA375776338EHMT1c.1902C>A (p.Ser634Arg)
c.1788C>A (p.Ser596Arg)
c.1809C>A (p.Ser603Arg)
c.1942C>A (n.1942C>A)
c.1529C>A
c.1071C>A (p.Ser357Arg)
c.*1637C>A (n.*1637C>A)
c.759C>A (p.Ser253Arg)
c.450C>A (p.Ser150Arg)
n.1721G>T
c.1893C>A (p.Ser631Arg)
c.1884C>A (p.Ser628Arg)
c.1911C>A (p.Ser637Arg)
c.1908C>A (p.Ser636Arg)
c.1890C>A (p.Ser630Arg)
c.1833C>A (p.Ser611Arg)
c.1767C>A (p.Ser589Arg)
c.333C>A (p.Ser111Arg)
c.1746C>A (p.Ser582Arg)
c.1881C>A (p.Ser627Arg)
c.1887C>A (p.Ser629Arg)
c.1803C>A (p.Ser601Arg)
c.1731C>A (p.Ser577Arg)
c.1665C>A (p.Ser555Arg)
c.1026C>A (p.Ser342Arg)
c.1644C>A (p.Ser548Arg)
9g.137776728C>GCA375776342EHMT1c.1902C>G (p.Ser634Arg)
c.1788C>G (p.Ser596Arg)
c.1809C>G (p.Ser603Arg)
c.1942C>G (n.1942C>G)
c.1529C>G
c.1071C>G (p.Ser357Arg)
c.*1637C>G (n.*1637C>G)
c.759C>G (p.Ser253Arg)
c.450C>G (p.Ser150Arg)
n.1721G>C
c.1893C>G (p.Ser631Arg)
c.1884C>G (p.Ser628Arg)
c.1911C>G (p.Ser637Arg)
c.1908C>G (p.Ser636Arg)
c.1890C>G (p.Ser630Arg)
c.1833C>G (p.Ser611Arg)
c.1767C>G (p.Ser589Arg)
c.333C>G (p.Ser111Arg)
c.1746C>G (p.Ser582Arg)
c.1881C>G (p.Ser627Arg)
c.1887C>G (p.Ser629Arg)
c.1803C>G (p.Ser601Arg)
c.1731C>G (p.Ser577Arg)
c.1665C>G (p.Ser555Arg)
c.1026C>G (p.Ser342Arg)
c.1644C>G (p.Ser548Arg)
9g.137776728C>TCA467874089EHMT1c.1902C>T (p.Ser634=)
c.1788C>T (p.Ser596=)
c.1809C>T (p.Ser603=)
c.1942C>T (n.1942C>T)
c.1529C>T
c.1071C>T (p.Ser357=)
c.*1637C>T (n.*1637C>T)
c.759C>T (p.Ser253=)
c.450C>T (p.Ser150=)
n.1721G>A
c.1893C>T (p.Ser631=)
c.1884C>T (p.Ser628=)
c.1911C>T (p.Ser637=)
c.1908C>T (p.Ser636=)
c.1890C>T (p.Ser630=)
c.1833C>T (p.Ser611=)
c.1767C>T (p.Ser589=)
c.333C>T (p.Ser111=)
c.1746C>T (p.Ser582=)
c.1881C>T (p.Ser627=)
c.1887C>T (p.Ser629=)
c.1803C>T (p.Ser601=)
c.1731C>T (p.Ser577=)
c.1665C>T (p.Ser555=)
c.1026C>T (p.Ser342=)
c.1644C>T (p.Ser548=)
9g.137776729T>ACA375776344EHMT1c.1903T>A (p.Ser635Thr)
c.1789T>A (p.Ser597Thr)
c.1810T>A (p.Ser604Thr)
c.1943T>A (n.1943T>A)
c.1530T>A
c.1072T>A (p.Ser358Thr)
c.*1638T>A (n.*1638T>A)
c.760T>A (p.Ser254Thr)
c.451T>A (p.Ser151Thr)
n.1720A>T
c.1894T>A (p.Ser632Thr)
c.1885T>A (p.Ser629Thr)
c.1912T>A (p.Ser638Thr)
c.1909T>A (p.Ser637Thr)
c.1891T>A (p.Ser631Thr)
c.1834T>A (p.Ser612Thr)
c.1768T>A (p.Ser590Thr)
c.334T>A (p.Ser112Thr)
c.1747T>A (p.Ser583Thr)
c.1882T>A (p.Ser628Thr)
c.1888T>A (p.Ser630Thr)
c.1804T>A (p.Ser602Thr)
c.1732T>A (p.Ser578Thr)
c.1666T>A (p.Ser556Thr)
c.1027T>A (p.Ser343Thr)
c.1645T>A (p.Ser549Thr)
 gnomAD v4
9g.137776729T>CCA375776347EHMT1c.1903T>C (p.Ser635Pro)
c.1789T>C (p.Ser597Pro)
c.1810T>C (p.Ser604Pro)
c.1943T>C (n.1943T>C)
c.1530T>C
c.1072T>C (p.Ser358Pro)
c.*1638T>C (n.*1638T>C)
c.760T>C (p.Ser254Pro)
c.451T>C (p.Ser151Pro)
n.1720A>G
c.1894T>C (p.Ser632Pro)
c.1885T>C (p.Ser629Pro)
c.1912T>C (p.Ser638Pro)
c.1909T>C (p.Ser637Pro)
c.1891T>C (p.Ser631Pro)
c.1834T>C (p.Ser612Pro)
c.1768T>C (p.Ser590Pro)
c.334T>C (p.Ser112Pro)
c.1747T>C (p.Ser583Pro)
c.1882T>C (p.Ser628Pro)
c.1888T>C (p.Ser630Pro)
c.1804T>C (p.Ser602Pro)
c.1732T>C (p.Ser578Pro)
c.1666T>C (p.Ser556Pro)
c.1027T>C (p.Ser343Pro)
c.1645T>C (p.Ser549Pro)
9g.137776729T>GCA375776350EHMT1c.1903T>G (p.Ser635Ala)
c.1789T>G (p.Ser597Ala)
c.1810T>G (p.Ser604Ala)
c.1943T>G (n.1943T>G)
c.1530T>G
c.1072T>G (p.Ser358Ala)
c.*1638T>G (n.*1638T>G)
c.760T>G (p.Ser254Ala)
c.451T>G (p.Ser151Ala)
n.1720A>C
c.1894T>G (p.Ser632Ala)
c.1885T>G (p.Ser629Ala)
c.1912T>G (p.Ser638Ala)
c.1909T>G (p.Ser637Ala)
c.1891T>G (p.Ser631Ala)
c.1834T>G (p.Ser612Ala)
c.1768T>G (p.Ser590Ala)
c.334T>G (p.Ser112Ala)
c.1747T>G (p.Ser583Ala)
c.1882T>G (p.Ser628Ala)
c.1888T>G (p.Ser630Ala)
c.1804T>G (p.Ser602Ala)
c.1732T>G (p.Ser578Ala)
c.1666T>G (p.Ser556Ala)
c.1027T>G (p.Ser343Ala)
c.1645T>G (p.Ser549Ala)
9g.137776730C>ACA375776353EHMT1c.1904C>A (p.Ser635Tyr)
c.1790C>A (p.Ser597Tyr)
c.1811C>A (p.Ser604Tyr)
c.1944C>A (n.1944C>A)
c.1531C>A
c.1073C>A (p.Ser358Tyr)
c.*1639C>A (n.*1639C>A)
c.761C>A (p.Ser254Tyr)
c.452C>A (p.Ser151Tyr)
n.1719G>T
c.1895C>A (p.Ser632Tyr)
c.1886C>A (p.Ser629Tyr)
c.1913C>A (p.Ser638Tyr)
c.1910C>A (p.Ser637Tyr)
c.1892C>A (p.Ser631Tyr)
c.1835C>A (p.Ser612Tyr)
c.1769C>A (p.Ser590Tyr)
c.335C>A (p.Ser112Tyr)
c.1748C>A (p.Ser583Tyr)
c.1883C>A (p.Ser628Tyr)
c.1889C>A (p.Ser630Tyr)
c.1805C>A (p.Ser602Tyr)
c.1733C>A (p.Ser578Tyr)
c.1667C>A (p.Ser556Tyr)
c.1028C>A (p.Ser343Tyr)
c.1646C>A (p.Ser549Tyr)
9g.137776730C>GCA375776355EHMT1c.1904C>G (p.Ser635Cys)
c.1790C>G (p.Ser597Cys)
c.1811C>G (p.Ser604Cys)
c.1944C>G (n.1944C>G)
c.1531C>G
c.1073C>G (p.Ser358Cys)
c.*1639C>G (n.*1639C>G)
c.761C>G (p.Ser254Cys)
c.452C>G (p.Ser151Cys)
n.1719G>C
c.1895C>G (p.Ser632Cys)
c.1886C>G (p.Ser629Cys)
c.1913C>G (p.Ser638Cys)
c.1910C>G (p.Ser637Cys)
c.1892C>G (p.Ser631Cys)
c.1835C>G (p.Ser612Cys)
c.1769C>G (p.Ser590Cys)
c.335C>G (p.Ser112Cys)
c.1748C>G (p.Ser583Cys)
c.1883C>G (p.Ser628Cys)
c.1889C>G (p.Ser630Cys)
c.1805C>G (p.Ser602Cys)
c.1733C>G (p.Ser578Cys)
c.1667C>G (p.Ser556Cys)
c.1028C>G (p.Ser343Cys)
c.1646C>G (p.Ser549Cys)
9g.137776730C>TCA375776359EHMT1c.1904C>T (p.Ser635Phe)
c.1790C>T (p.Ser597Phe)
c.1811C>T (p.Ser604Phe)
c.1944C>T (n.1944C>T)
c.1531C>T
c.1073C>T (p.Ser358Phe)
c.*1639C>T (n.*1639C>T)
c.761C>T (p.Ser254Phe)
c.452C>T (p.Ser151Phe)
n.1719G>A
c.1895C>T (p.Ser632Phe)
c.1886C>T (p.Ser629Phe)
c.1913C>T (p.Ser638Phe)
c.1910C>T (p.Ser637Phe)
c.1892C>T (p.Ser631Phe)
c.1835C>T (p.Ser612Phe)
c.1769C>T (p.Ser590Phe)
c.335C>T (p.Ser112Phe)
c.1748C>T (p.Ser583Phe)
c.1883C>T (p.Ser628Phe)
c.1889C>T (p.Ser630Phe)
c.1805C>T (p.Ser602Phe)
c.1733C>T (p.Ser578Phe)
c.1667C>T (p.Ser556Phe)
c.1028C>T (p.Ser343Phe)
c.1646C>T (p.Ser549Phe)
9g.137776731C>ACA467874090EHMT1c.1905C>A (p.Ser635=)
c.1791C>A (p.Ser597=)
c.1812C>A (p.Ser604=)
c.1945C>A (n.1945C>A)
c.1532C>A
c.1074C>A (p.Ser358=)
c.*1640C>A (n.*1640C>A)
c.762C>A (p.Ser254=)
c.453C>A (p.Ser151=)
n.1718G>T
c.1896C>A (p.Ser632=)
c.1887C>A (p.Ser629=)
c.1914C>A (p.Ser638=)
c.1911C>A (p.Ser637=)
c.1893C>A (p.Ser631=)
c.1836C>A (p.Ser612=)
c.1770C>A (p.Ser590=)
c.336C>A (p.Ser112=)
c.1749C>A (p.Ser583=)
c.1884C>A (p.Ser628=)
c.1890C>A (p.Ser630=)
c.1806C>A (p.Ser602=)
c.1734C>A (p.Ser578=)
c.1668C>A (p.Ser556=)
c.1029C>A (p.Ser343=)
c.1647C>A (p.Ser549=)
9g.137776731C>GCA467874091EHMT1c.1905C>G (p.Ser635=)
c.1791C>G (p.Ser597=)
c.1812C>G (p.Ser604=)
c.1945C>G (n.1945C>G)
c.1532C>G
c.1074C>G (p.Ser358=)
c.*1640C>G (n.*1640C>G)
c.762C>G (p.Ser254=)
c.453C>G (p.Ser151=)
n.1718G>C
c.1896C>G (p.Ser632=)
c.1887C>G (p.Ser629=)
c.1914C>G (p.Ser638=)
c.1911C>G (p.Ser637=)
c.1893C>G (p.Ser631=)
c.1836C>G (p.Ser612=)
c.1770C>G (p.Ser590=)
c.336C>G (p.Ser112=)
c.1749C>G (p.Ser583=)
c.1884C>G (p.Ser628=)
c.1890C>G (p.Ser630=)
c.1806C>G (p.Ser602=)
c.1734C>G (p.Ser578=)
c.1668C>G (p.Ser556=)
c.1029C>G (p.Ser343=)
c.1647C>G (p.Ser549=)
9g.137776731C>TCA467874092EHMT1c.1905C>T (p.Ser635=)
c.1791C>T (p.Ser597=)
c.1812C>T (p.Ser604=)
c.1945C>T (n.1945C>T)
c.1532C>T
c.1074C>T (p.Ser358=)
c.*1640C>T (n.*1640C>T)
c.762C>T (p.Ser254=)
c.453C>T (p.Ser151=)
n.1718G>A
c.1896C>T (p.Ser632=)
c.1887C>T (p.Ser629=)
c.1914C>T (p.Ser638=)
c.1911C>T (p.Ser637=)
c.1893C>T (p.Ser631=)
c.1836C>T (p.Ser612=)
c.1770C>T (p.Ser590=)
c.336C>T (p.Ser112=)
c.1749C>T (p.Ser583=)
c.1884C>T (p.Ser628=)
c.1890C>T (p.Ser630=)
c.1806C>T (p.Ser602=)
c.1734C>T (p.Ser578=)
c.1668C>T (p.Ser556=)
c.1029C>T (p.Ser343=)
c.1647C>T (p.Ser549=)
 gnomAD v4
9g.137776732A>CCA375776363EHMT1c.1906A>C (p.Lys636Gln)
c.1792A>C (p.Lys598Gln)
c.1813A>C (p.Lys605Gln)
c.1946A>C (n.1946A>C)
c.1533A>C
c.1075A>C (p.Lys359Gln)
c.*1641A>C (n.*1641A>C)
c.763A>C (p.Lys255Gln)
c.454A>C (p.Lys152Gln)
n.1717T>G
c.1897A>C (p.Lys633Gln)
c.1888A>C (p.Lys630Gln)
c.1915A>C (p.Lys639Gln)
c.1912A>C (p.Lys638Gln)
c.1894A>C (p.Lys632Gln)
c.1837A>C (p.Lys613Gln)
c.1771A>C (p.Lys591Gln)
c.337A>C (p.Lys113Gln)
c.1750A>C (p.Lys584Gln)
c.1885A>C (p.Lys629Gln)
c.1891A>C (p.Lys631Gln)
c.1807A>C (p.Lys603Gln)
c.1735A>C (p.Lys579Gln)
c.1669A>C (p.Lys557Gln)
c.1030A>C (p.Lys344Gln)
c.1648A>C (p.Lys550Gln)
 gnomAD v4
9g.137776732A>GCA375776366EHMT1c.1906A>G (p.Lys636Glu)
c.1792A>G (p.Lys598Glu)
c.1813A>G (p.Lys605Glu)
c.1946A>G (n.1946A>G)
c.1533A>G
c.1075A>G (p.Lys359Glu)
c.*1641A>G (n.*1641A>G)
c.763A>G (p.Lys255Glu)
c.454A>G (p.Lys152Glu)
n.1717T>C
c.1897A>G (p.Lys633Glu)
c.1888A>G (p.Lys630Glu)
c.1915A>G (p.Lys639Glu)
c.1912A>G (p.Lys638Glu)
c.1894A>G (p.Lys632Glu)
c.1837A>G (p.Lys613Glu)
c.1771A>G (p.Lys591Glu)
c.337A>G (p.Lys113Glu)
c.1750A>G (p.Lys584Glu)
c.1885A>G (p.Lys629Glu)
c.1891A>G (p.Lys631Glu)
c.1807A>G (p.Lys603Glu)
c.1735A>G (p.Lys579Glu)
c.1669A>G (p.Lys557Glu)
c.1030A>G (p.Lys344Glu)
c.1648A>G (p.Lys550Glu)
9g.137776732A>TCA375776369EHMT1c.1906A>T (p.Lys636Ter)
c.1792A>T (p.Lys598Ter)
c.1813A>T (p.Lys605Ter)
c.1946A>T (n.1946A>T)
c.1533A>T
c.1075A>T (p.Lys359Ter)
c.*1641A>T (n.*1641A>T)
c.763A>T (p.Lys255Ter)
c.454A>T (p.Lys152Ter)
n.1717T>A
c.1897A>T (p.Lys633Ter)
c.1888A>T (p.Lys630Ter)
c.1915A>T (p.Lys639Ter)
c.1912A>T (p.Lys638Ter)
c.1894A>T (p.Lys632Ter)
c.1837A>T (p.Lys613Ter)
c.1771A>T (p.Lys591Ter)
c.337A>T (p.Lys113Ter)
c.1750A>T (p.Lys584Ter)
c.1885A>T (p.Lys629Ter)
c.1891A>T (p.Lys631Ter)
c.1807A>T (p.Lys603Ter)
c.1735A>T (p.Lys579Ter)
c.1669A>T (p.Lys557Ter)
c.1030A>T (p.Lys344Ter)
c.1648A>T (p.Lys550Ter)
9g.137776733A>CCA375776377EHMT1c.1907A>C (p.Lys636Thr)
c.1793A>C (p.Lys598Thr)
c.1814A>C (p.Lys605Thr)
c.1947A>C (n.1947A>C)
c.1534A>C
c.1076A>C (p.Lys359Thr)
c.*1642A>C (n.*1642A>C)
c.764A>C (p.Lys255Thr)
c.455A>C (p.Lys152Thr)
n.1716T>G
c.1898A>C (p.Lys633Thr)
c.1889A>C (p.Lys630Thr)
c.1916A>C (p.Lys639Thr)
c.1913A>C (p.Lys638Thr)
c.1895A>C (p.Lys632Thr)
c.1838A>C (p.Lys613Thr)
c.1772A>C (p.Lys591Thr)
c.338A>C (p.Lys113Thr)
c.1751A>C (p.Lys584Thr)
c.1886A>C (p.Lys629Thr)
c.1892A>C (p.Lys631Thr)
c.1808A>C (p.Lys603Thr)
c.1736A>C (p.Lys579Thr)
c.1670A>C (p.Lys557Thr)
c.1031A>C (p.Lys344Thr)
c.1649A>C (p.Lys550Thr)
9g.137776733A>GCA375776371EHMT1c.1907A>G (p.Lys636Arg)
c.1793A>G (p.Lys598Arg)
c.1814A>G (p.Lys605Arg)
c.1947A>G (n.1947A>G)
c.1534A>G
c.1076A>G (p.Lys359Arg)
c.*1642A>G (n.*1642A>G)
c.764A>G (p.Lys255Arg)
c.455A>G (p.Lys152Arg)
n.1716T>C
c.1898A>G (p.Lys633Arg)
c.1889A>G (p.Lys630Arg)
c.1916A>G (p.Lys639Arg)
c.1913A>G (p.Lys638Arg)
c.1895A>G (p.Lys632Arg)
c.1838A>G (p.Lys613Arg)
c.1772A>G (p.Lys591Arg)
c.338A>G (p.Lys113Arg)
c.1751A>G (p.Lys584Arg)
c.1886A>G (p.Lys629Arg)
c.1892A>G (p.Lys631Arg)
c.1808A>G (p.Lys603Arg)
c.1736A>G (p.Lys579Arg)
c.1670A>G (p.Lys557Arg)
c.1031A>G (p.Lys344Arg)
c.1649A>G (p.Lys550Arg)
9g.137776733A>TCA375776376EHMT1c.1907A>T (p.Lys636Met)
c.1793A>T (p.Lys598Met)
c.1814A>T (p.Lys605Met)
c.1947A>T (n.1947A>T)
c.1534A>T
c.1076A>T (p.Lys359Met)
c.*1642A>T (n.*1642A>T)
c.764A>T (p.Lys255Met)
c.455A>T (p.Lys152Met)
n.1716T>A
c.1898A>T (p.Lys633Met)
c.1889A>T (p.Lys630Met)
c.1916A>T (p.Lys639Met)
c.1913A>T (p.Lys638Met)
c.1895A>T (p.Lys632Met)
c.1838A>T (p.Lys613Met)
c.1772A>T (p.Lys591Met)
c.338A>T (p.Lys113Met)
c.1751A>T (p.Lys584Met)
c.1886A>T (p.Lys629Met)
c.1892A>T (p.Lys631Met)
c.1808A>T (p.Lys603Met)
c.1736A>T (p.Lys579Met)
c.1670A>T (p.Lys557Met)
c.1031A>T (p.Lys344Met)
c.1649A>T (p.Lys550Met)
9g.137776734G>ACA467874093EHMT1c.1908G>A (p.Lys636=)
c.1794G>A (p.Lys598=)
c.1815G>A (p.Lys605=)
c.1948G>A (n.1948G>A)
c.1535G>A
c.1077G>A (p.Lys359=)
c.*1643G>A (n.*1643G>A)
c.765G>A (p.Lys255=)
c.456G>A (p.Lys152=)
n.1715C>T
c.1899G>A (p.Lys633=)
c.1890G>A (p.Lys630=)
c.1917G>A (p.Lys639=)
c.1914G>A (p.Lys638=)
c.1896G>A (p.Lys632=)
c.1839G>A (p.Lys613=)
c.1773G>A (p.Lys591=)
c.339G>A (p.Lys113=)
c.1752G>A (p.Lys584=)
c.1887G>A (p.Lys629=)
c.1893G>A (p.Lys631=)
c.1809G>A (p.Lys603=)
c.1737G>A (p.Lys579=)
c.1671G>A (p.Lys557=)
c.1032G>A (p.Lys344=)
c.1650G>A (p.Lys550=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137776734G>CCA375776382EHMT1c.1908G>C (p.Lys636Asn)
c.1794G>C (p.Lys598Asn)
c.1815G>C (p.Lys605Asn)
c.1948G>C (n.1948G>C)
c.1535G>C
c.1077G>C (p.Lys359Asn)
c.*1643G>C (n.*1643G>C)
c.765G>C (p.Lys255Asn)
c.456G>C (p.Lys152Asn)
n.1715C>G
c.1899G>C (p.Lys633Asn)
c.1890G>C (p.Lys630Asn)
c.1917G>C (p.Lys639Asn)
c.1914G>C (p.Lys638Asn)
c.1896G>C (p.Lys632Asn)
c.1839G>C (p.Lys613Asn)
c.1773G>C (p.Lys591Asn)
c.339G>C (p.Lys113Asn)
c.1752G>C (p.Lys584Asn)
c.1887G>C (p.Lys629Asn)
c.1893G>C (p.Lys631Asn)
c.1809G>C (p.Lys603Asn)
c.1737G>C (p.Lys579Asn)
c.1671G>C (p.Lys557Asn)
c.1032G>C (p.Lys344Asn)
c.1650G>C (p.Lys550Asn)
9g.137776734G=CA1884666499EHMT1c.1908G= (p.Lys636=)
c.1794G= (p.Lys598=)
c.1815G= (p.Lys605=)
c.1948G= (n.1948G=)
c.1535G=
c.1077G= (p.Lys359=)
c.*1643G= (n.*1643G=)
c.765G= (p.Lys255=)
c.456G= (p.Lys152=)
n.1715C=
c.1899G= (p.Lys633=)
c.1890G= (p.Lys630=)
c.1917G= (p.Lys639=)
c.1914G= (p.Lys638=)
c.1896G= (p.Lys632=)
c.1839G= (p.Lys613=)
c.1773G= (p.Lys591=)
c.339G= (p.Lys113=)
c.1752G= (p.Lys584=)
c.1887G= (p.Lys629=)
c.1893G= (p.Lys631=)
c.1809G= (p.Lys603=)
c.1737G= (p.Lys579=)
c.1671G= (p.Lys557=)
c.1032G= (p.Lys344=)
c.1650G= (p.Lys550=)
9g.137776734G>TCA375776385EHMT1c.1908G>T (p.Lys636Asn)
c.1794G>T (p.Lys598Asn)
c.1815G>T (p.Lys605Asn)
c.1948G>T (n.1948G>T)
c.1535G>T
c.1077G>T (p.Lys359Asn)
c.*1643G>T (n.*1643G>T)
c.765G>T (p.Lys255Asn)
c.456G>T (p.Lys152Asn)
n.1715C>A
c.1899G>T (p.Lys633Asn)
c.1890G>T (p.Lys630Asn)
c.1917G>T (p.Lys639Asn)
c.1914G>T (p.Lys638Asn)
c.1896G>T (p.Lys632Asn)
c.1839G>T (p.Lys613Asn)
c.1773G>T (p.Lys591Asn)
c.339G>T (p.Lys113Asn)
c.1752G>T (p.Lys584Asn)
c.1887G>T (p.Lys629Asn)
c.1893G>T (p.Lys631Asn)
c.1809G>T (p.Lys603Asn)
c.1737G>T (p.Lys579Asn)
c.1671G>T (p.Lys557Asn)
c.1032G>T (p.Lys344Asn)
c.1650G>T (p.Lys550Asn)
9g.137776735G>ACA375776388EHMT1c.1909G>A (p.Ala637Thr)
c.1795G>A (p.Ala599Thr)
c.1816G>A (p.Ala606Thr)
c.1949G>A (n.1949G>A)
c.1536G>A
c.1078G>A (p.Ala360Thr)
c.*1644G>A (n.*1644G>A)
c.766G>A (p.Ala256Thr)
c.457G>A (p.Ala153Thr)
n.1714C>T
c.1900G>A (p.Ala634Thr)
c.1891G>A (p.Ala631Thr)
c.1918G>A (p.Ala640Thr)
c.1915G>A (p.Ala639Thr)
c.1897G>A (p.Ala633Thr)
c.1840G>A (p.Ala614Thr)
c.1774G>A (p.Ala592Thr)
c.340G>A (p.Ala114Thr)
c.1753G>A (p.Ala585Thr)
c.1888G>A (p.Ala630Thr)
c.1894G>A (p.Ala632Thr)
c.1810G>A (p.Ala604Thr)
c.1738G>A (p.Ala580Thr)
c.1672G>A (p.Ala558Thr)
c.1033G>A (p.Ala345Thr)
c.1651G>A (p.Ala551Thr)
9g.137776735G>CCA375776391EHMT1c.1909G>C (p.Ala637Pro)
c.1795G>C (p.Ala599Pro)
c.1816G>C (p.Ala606Pro)
c.1949G>C (n.1949G>C)
c.1536G>C
c.1078G>C (p.Ala360Pro)
c.*1644G>C (n.*1644G>C)
c.766G>C (p.Ala256Pro)
c.457G>C (p.Ala153Pro)
n.1714C>G
c.1900G>C (p.Ala634Pro)
c.1891G>C (p.Ala631Pro)
c.1918G>C (p.Ala640Pro)
c.1915G>C (p.Ala639Pro)
c.1897G>C (p.Ala633Pro)
c.1840G>C (p.Ala614Pro)
c.1774G>C (p.Ala592Pro)
c.340G>C (p.Ala114Pro)
c.1753G>C (p.Ala585Pro)
c.1888G>C (p.Ala630Pro)
c.1894G>C (p.Ala632Pro)
c.1810G>C (p.Ala604Pro)
c.1738G>C (p.Ala580Pro)
c.1672G>C (p.Ala558Pro)
c.1033G>C (p.Ala345Pro)
c.1651G>C (p.Ala551Pro)
9g.137776735G>TCA375776392EHMT1c.1909G>T (p.Ala637Ser)
c.1795G>T (p.Ala599Ser)
c.1816G>T (p.Ala606Ser)
c.1949G>T (n.1949G>T)
c.1536G>T
c.1078G>T (p.Ala360Ser)
c.*1644G>T (n.*1644G>T)
c.766G>T (p.Ala256Ser)
c.457G>T (p.Ala153Ser)
n.1714C>A
c.1900G>T (p.Ala634Ser)
c.1891G>T (p.Ala631Ser)
c.1918G>T (p.Ala640Ser)
c.1915G>T (p.Ala639Ser)
c.1897G>T (p.Ala633Ser)
c.1840G>T (p.Ala614Ser)
c.1774G>T (p.Ala592Ser)
c.340G>T (p.Ala114Ser)
c.1753G>T (p.Ala585Ser)
c.1888G>T (p.Ala630Ser)
c.1894G>T (p.Ala632Ser)
c.1810G>T (p.Ala604Ser)
c.1738G>T (p.Ala580Ser)
c.1672G>T (p.Ala558Ser)
c.1033G>T (p.Ala345Ser)
c.1651G>T (p.Ala551Ser)
 gnomAD v4
9g.137776736C>ACA375776395EHMT1c.1910C>A (p.Ala637Asp)
c.1796C>A (p.Ala599Asp)
c.1817C>A (p.Ala606Asp)
c.1950C>A (n.1950C>A)
c.1537C>A
c.1079C>A (p.Ala360Asp)
c.*1645C>A (n.*1645C>A)
c.767C>A (p.Ala256Asp)
c.458C>A (p.Ala153Asp)
n.1713G>T
c.1901C>A (p.Ala634Asp)
c.1892C>A (p.Ala631Asp)
c.1919C>A (p.Ala640Asp)
c.1916C>A (p.Ala639Asp)
c.1898C>A (p.Ala633Asp)
c.1841C>A (p.Ala614Asp)
c.1775C>A (p.Ala592Asp)
c.341C>A (p.Ala114Asp)
c.1754C>A (p.Ala585Asp)
c.1889C>A (p.Ala630Asp)
c.1895C>A (p.Ala632Asp)
c.1811C>A (p.Ala604Asp)
c.1739C>A (p.Ala580Asp)
c.1673C>A (p.Ala558Asp)
c.1034C>A (p.Ala345Asp)
c.1652C>A (p.Ala551Asp)
9g.137776736C>GCA375776398EHMT1c.1910C>G (p.Ala637Gly)
c.1796C>G (p.Ala599Gly)
c.1817C>G (p.Ala606Gly)
c.1950C>G (n.1950C>G)
c.1537C>G
c.1079C>G (p.Ala360Gly)
c.*1645C>G (n.*1645C>G)
c.767C>G (p.Ala256Gly)
c.458C>G (p.Ala153Gly)
n.1713G>C
c.1901C>G (p.Ala634Gly)
c.1892C>G (p.Ala631Gly)
c.1919C>G (p.Ala640Gly)
c.1916C>G (p.Ala639Gly)
c.1898C>G (p.Ala633Gly)
c.1841C>G (p.Ala614Gly)
c.1775C>G (p.Ala592Gly)
c.341C>G (p.Ala114Gly)
c.1754C>G (p.Ala585Gly)
c.1889C>G (p.Ala630Gly)
c.1895C>G (p.Ala632Gly)
c.1811C>G (p.Ala604Gly)
c.1739C>G (p.Ala580Gly)
c.1673C>G (p.Ala558Gly)
c.1034C>G (p.Ala345Gly)
c.1652C>G (p.Ala551Gly)
9g.137776736C>TCA375776401EHMT1c.1910C>T (p.Ala637Val)
c.1796C>T (p.Ala599Val)
c.1817C>T (p.Ala606Val)
c.1950C>T (n.1950C>T)
c.1537C>T
c.1079C>T (p.Ala360Val)
c.*1645C>T (n.*1645C>T)
c.767C>T (p.Ala256Val)
c.458C>T (p.Ala153Val)
n.1713G>A
c.1901C>T (p.Ala634Val)
c.1892C>T (p.Ala631Val)
c.1919C>T (p.Ala640Val)
c.1916C>T (p.Ala639Val)
c.1898C>T (p.Ala633Val)
c.1841C>T (p.Ala614Val)
c.1775C>T (p.Ala592Val)
c.341C>T (p.Ala114Val)
c.1754C>T (p.Ala585Val)
c.1889C>T (p.Ala630Val)
c.1895C>T (p.Ala632Val)
c.1811C>T (p.Ala604Val)
c.1739C>T (p.Ala580Val)
c.1673C>T (p.Ala558Val)
c.1034C>T (p.Ala345Val)
c.1652C>T (p.Ala551Val)

Number of alleles fetched