| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137776589_137776637del | CA2695211854 | EHMT1 | c.1792-29_1811del c.1678-29_1697del c.1699-29_1718del c.1832-29_1851del c.1419-29_1438del c.961-29_980del c.*1527-29_*1546del c.649-29_668del c.340-29_359del n.1814_1862del c.1783-29_1802del c.1774-29_1793del c.1801-29_1820del c.1798-29_1817del c.1780-29_1799del c.1723-29_1742del c.1657-29_1676del c.223-29_242del c.1636-29_1655del c.1771-29_1790del c.1777-29_1796del c.1693-29_1712del c.1621-29_1640del c.1555-29_1574del c.916-29_935del c.1534-29_1553del | |
| 9 | g.137776636C>A | CA375775586 | EHMT1 | c.1810C>A (p.Gln604Lys) c.1696C>A (p.Gln566Lys) c.1717C>A (p.Gln573Lys) c.1850C>A (n.1850C>A) c.1437C>A c.979C>A (p.Gln327Lys) c.*1545C>A (n.*1545C>A) c.667C>A (p.Gln223Lys) c.358C>A (p.Gln120Lys) n.1813G>T c.1801C>A (p.Gln601Lys) c.1792C>A (p.Gln598Lys) c.1819C>A (p.Gln607Lys) c.1816C>A (p.Gln606Lys) c.1798C>A (p.Gln600Lys) c.1741C>A (p.Gln581Lys) c.1675C>A (p.Gln559Lys) c.241C>A (p.Gln81Lys) c.1654C>A (p.Gln552Lys) c.1789C>A (p.Gln597Lys) c.1795C>A (p.Gln599Lys) c.1711C>A (p.Gln571Lys) c.1639C>A (p.Gln547Lys) c.1573C>A (p.Gln525Lys) c.934C>A (p.Gln312Lys) c.1552C>A (p.Gln518Lys) | gnomAD v4 |
| 9 | g.137776636C= | CA1884666465 | EHMT1 | c.1810C= (p.Gln604=) c.1696C= (p.Gln566=) c.1717C= (p.Gln573=) c.1850C= (n.1850C=) c.1437C= c.979C= (p.Gln327=) c.*1545C= (n.*1545C=) c.667C= (p.Gln223=) c.358C= (p.Gln120=) n.1813G= c.1801C= (p.Gln601=) c.1792C= (p.Gln598=) c.1819C= (p.Gln607=) c.1816C= (p.Gln606=) c.1798C= (p.Gln600=) c.1741C= (p.Gln581=) c.1675C= (p.Gln559=) c.241C= (p.Gln81=) c.1654C= (p.Gln552=) c.1789C= (p.Gln597=) c.1795C= (p.Gln599=) c.1711C= (p.Gln571=) c.1639C= (p.Gln547=) c.1573C= (p.Gln525=) c.934C= (p.Gln312=) c.1552C= (p.Gln518=) | |
| 9 | g.137776636C>G | CA375775587 | EHMT1 | c.1810C>G (p.Gln604Glu) c.1696C>G (p.Gln566Glu) c.1717C>G (p.Gln573Glu) c.1850C>G (n.1850C>G) c.1437C>G c.979C>G (p.Gln327Glu) c.*1545C>G (n.*1545C>G) c.667C>G (p.Gln223Glu) c.358C>G (p.Gln120Glu) n.1813G>C c.1801C>G (p.Gln601Glu) c.1792C>G (p.Gln598Glu) c.1819C>G (p.Gln607Glu) c.1816C>G (p.Gln606Glu) c.1798C>G (p.Gln600Glu) c.1741C>G (p.Gln581Glu) c.1675C>G (p.Gln559Glu) c.241C>G (p.Gln81Glu) c.1654C>G (p.Gln552Glu) c.1789C>G (p.Gln597Glu) c.1795C>G (p.Gln599Glu) c.1711C>G (p.Gln571Glu) c.1639C>G (p.Gln547Glu) c.1573C>G (p.Gln525Glu) c.934C>G (p.Gln312Glu) c.1552C>G (p.Gln518Glu) | |
| 9 | g.137776636C>T | CA345050 | EHMT1 | c.1810C>T (p.Gln604Ter) c.1696C>T (p.Gln566Ter) c.1717C>T (p.Gln573Ter) c.1850C>T (n.1850C>T) c.1437C>T c.979C>T (p.Gln327Ter) c.*1545C>T (n.*1545C>T) c.667C>T (p.Gln223Ter) c.358C>T (p.Gln120Ter) n.1813G>A c.1801C>T (p.Gln601Ter) c.1792C>T (p.Gln598Ter) c.1819C>T (p.Gln607Ter) c.1816C>T (p.Gln606Ter) c.1798C>T (p.Gln600Ter) c.1741C>T (p.Gln581Ter) c.1675C>T (p.Gln559Ter) c.241C>T (p.Gln81Ter) c.1654C>T (p.Gln552Ter) c.1789C>T (p.Gln597Ter) c.1795C>T (p.Gln599Ter) c.1711C>T (p.Gln571Ter) c.1639C>T (p.Gln547Ter) c.1573C>T (p.Gln525Ter) c.934C>T (p.Gln312Ter) c.1552C>T (p.Gln518Ter) | ClinVar dbSNP |
| 9 | g.137776637A= | CA1884666466 | EHMT1 | c.1811A= (p.Gln604=) c.1697A= (p.Gln566=) c.1718A= (p.Gln573=) c.1851A= (n.1851A=) c.1438A= c.980A= (p.Gln327=) c.*1546A= (n.*1546A=) c.668A= (p.Gln223=) c.359A= (p.Gln120=) n.1812T= c.1802A= (p.Gln601=) c.1793A= (p.Gln598=) c.1820A= (p.Gln607=) c.1817A= (p.Gln606=) c.1799A= (p.Gln600=) c.1742A= (p.Gln581=) c.1676A= (p.Gln559=) c.242A= (p.Gln81=) c.1655A= (p.Gln552=) c.1790A= (p.Gln597=) c.1796A= (p.Gln599=) c.1712A= (p.Gln571=) c.1640A= (p.Gln547=) c.1574A= (p.Gln525=) c.935A= (p.Gln312=) c.1553A= (p.Gln518=) | |
| 9 | g.137776637A>C | CA375775591 | EHMT1 | c.1811A>C (p.Gln604Pro) c.1697A>C (p.Gln566Pro) c.1718A>C (p.Gln573Pro) c.1851A>C (n.1851A>C) c.1438A>C c.980A>C (p.Gln327Pro) c.*1546A>C (n.*1546A>C) c.668A>C (p.Gln223Pro) c.359A>C (p.Gln120Pro) n.1812T>G c.1802A>C (p.Gln601Pro) c.1793A>C (p.Gln598Pro) c.1820A>C (p.Gln607Pro) c.1817A>C (p.Gln606Pro) c.1799A>C (p.Gln600Pro) c.1742A>C (p.Gln581Pro) c.1676A>C (p.Gln559Pro) c.242A>C (p.Gln81Pro) c.1655A>C (p.Gln552Pro) c.1790A>C (p.Gln597Pro) c.1796A>C (p.Gln599Pro) c.1712A>C (p.Gln571Pro) c.1640A>C (p.Gln547Pro) c.1574A>C (p.Gln525Pro) c.935A>C (p.Gln312Pro) c.1553A>C (p.Gln518Pro) | |
| 9 | g.137776637A>G | CA375775593 | EHMT1 | c.1811A>G (p.Gln604Arg) c.1697A>G (p.Gln566Arg) c.1718A>G (p.Gln573Arg) c.1851A>G (n.1851A>G) c.1438A>G c.980A>G (p.Gln327Arg) c.*1546A>G (n.*1546A>G) c.668A>G (p.Gln223Arg) c.359A>G (p.Gln120Arg) n.1812T>C c.1802A>G (p.Gln601Arg) c.1793A>G (p.Gln598Arg) c.1820A>G (p.Gln607Arg) c.1817A>G (p.Gln606Arg) c.1799A>G (p.Gln600Arg) c.1742A>G (p.Gln581Arg) c.1676A>G (p.Gln559Arg) c.242A>G (p.Gln81Arg) c.1655A>G (p.Gln552Arg) c.1790A>G (p.Gln597Arg) c.1796A>G (p.Gln599Arg) c.1712A>G (p.Gln571Arg) c.1640A>G (p.Gln547Arg) c.1574A>G (p.Gln525Arg) c.935A>G (p.Gln312Arg) c.1553A>G (p.Gln518Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137776637A>T | CA375775597 | EHMT1 | c.1811A>T (p.Gln604Leu) c.1697A>T (p.Gln566Leu) c.1718A>T (p.Gln573Leu) c.1851A>T (n.1851A>T) c.1438A>T c.980A>T (p.Gln327Leu) c.*1546A>T (n.*1546A>T) c.668A>T (p.Gln223Leu) c.359A>T (p.Gln120Leu) n.1812T>A c.1802A>T (p.Gln601Leu) c.1793A>T (p.Gln598Leu) c.1820A>T (p.Gln607Leu) c.1817A>T (p.Gln606Leu) c.1799A>T (p.Gln600Leu) c.1742A>T (p.Gln581Leu) c.1676A>T (p.Gln559Leu) c.242A>T (p.Gln81Leu) c.1655A>T (p.Gln552Leu) c.1790A>T (p.Gln597Leu) c.1796A>T (p.Gln599Leu) c.1712A>T (p.Gln571Leu) c.1640A>T (p.Gln547Leu) c.1574A>T (p.Gln525Leu) c.935A>T (p.Gln312Leu) c.1553A>T (p.Gln518Leu) | |
| 9 | g.137776638G>A | CA467874043 | EHMT1 | c.1812G>A (p.Gln604=) c.1698G>A (p.Gln566=) c.1719G>A (p.Gln573=) c.1852G>A (n.1852G>A) c.1439G>A c.981G>A (p.Gln327=) c.*1547G>A (n.*1547G>A) c.669G>A (p.Gln223=) c.360G>A (p.Gln120=) n.1811C>T c.1803G>A (p.Gln601=) c.1794G>A (p.Gln598=) c.1821G>A (p.Gln607=) c.1818G>A (p.Gln606=) c.1800G>A (p.Gln600=) c.1743G>A (p.Gln581=) c.1677G>A (p.Gln559=) c.243G>A (p.Gln81=) c.1656G>A (p.Gln552=) c.1791G>A (p.Gln597=) c.1797G>A (p.Gln599=) c.1713G>A (p.Gln571=) c.1641G>A (p.Gln547=) c.1575G>A (p.Gln525=) c.936G>A (p.Gln312=) c.1554G>A (p.Gln518=) | dbSNP |
| 9 | g.137776638G>C | CA375775602 | EHMT1 | c.1812G>C (p.Gln604His) c.1698G>C (p.Gln566His) c.1719G>C (p.Gln573His) c.1852G>C (n.1852G>C) c.1439G>C c.981G>C (p.Gln327His) c.*1547G>C (n.*1547G>C) c.669G>C (p.Gln223His) c.360G>C (p.Gln120His) n.1811C>G c.1803G>C (p.Gln601His) c.1794G>C (p.Gln598His) c.1821G>C (p.Gln607His) c.1818G>C (p.Gln606His) c.1800G>C (p.Gln600His) c.1743G>C (p.Gln581His) c.1677G>C (p.Gln559His) c.243G>C (p.Gln81His) c.1656G>C (p.Gln552His) c.1791G>C (p.Gln597His) c.1797G>C (p.Gln599His) c.1713G>C (p.Gln571His) c.1641G>C (p.Gln547His) c.1575G>C (p.Gln525His) c.936G>C (p.Gln312His) c.1554G>C (p.Gln518His) | |
| 9 | g.137776638G= | CA1884666467 | EHMT1 | c.1812G= (p.Gln604=) c.1698G= (p.Gln566=) c.1719G= (p.Gln573=) c.1852G= (n.1852G=) c.1439G= c.981G= (p.Gln327=) c.*1547G= (n.*1547G=) c.669G= (p.Gln223=) c.360G= (p.Gln120=) n.1811C= c.1803G= (p.Gln601=) c.1794G= (p.Gln598=) c.1821G= (p.Gln607=) c.1818G= (p.Gln606=) c.1800G= (p.Gln600=) c.1743G= (p.Gln581=) c.1677G= (p.Gln559=) c.243G= (p.Gln81=) c.1656G= (p.Gln552=) c.1791G= (p.Gln597=) c.1797G= (p.Gln599=) c.1713G= (p.Gln571=) c.1641G= (p.Gln547=) c.1575G= (p.Gln525=) c.936G= (p.Gln312=) c.1554G= (p.Gln518=) | |
| 9 | g.137776638G>T | CA375775613 | EHMT1 | c.1812G>T (p.Gln604His) c.1698G>T (p.Gln566His) c.1719G>T (p.Gln573His) c.1852G>T (n.1852G>T) c.1439G>T c.981G>T (p.Gln327His) c.*1547G>T (n.*1547G>T) c.669G>T (p.Gln223His) c.360G>T (p.Gln120His) n.1811C>A c.1803G>T (p.Gln601His) c.1794G>T (p.Gln598His) c.1821G>T (p.Gln607His) c.1818G>T (p.Gln606His) c.1800G>T (p.Gln600His) c.1743G>T (p.Gln581His) c.1677G>T (p.Gln559His) c.243G>T (p.Gln81His) c.1656G>T (p.Gln552His) c.1791G>T (p.Gln597His) c.1797G>T (p.Gln599His) c.1713G>T (p.Gln571His) c.1641G>T (p.Gln547His) c.1575G>T (p.Gln525His) c.936G>T (p.Gln312His) c.1554G>T (p.Gln518His) | |
| 9 | g.137776639C>A | CA375775621 | EHMT1 | c.1813C>A (p.Pro605Thr) c.1699C>A (p.Pro567Thr) c.1720C>A (p.Pro574Thr) c.1853C>A (n.1853C>A) c.1440C>A c.982C>A (p.Pro328Thr) c.*1548C>A (n.*1548C>A) c.670C>A (p.Pro224Thr) c.361C>A (p.Pro121Thr) n.1810G>T c.1804C>A (p.Pro602Thr) c.1795C>A (p.Pro599Thr) c.1822C>A (p.Pro608Thr) c.1819C>A (p.Pro607Thr) c.1801C>A (p.Pro601Thr) c.1744C>A (p.Pro582Thr) c.1678C>A (p.Pro560Thr) c.244C>A (p.Pro82Thr) c.1657C>A (p.Pro553Thr) c.1792C>A (p.Pro598Thr) c.1798C>A (p.Pro600Thr) c.1714C>A (p.Pro572Thr) c.1642C>A (p.Pro548Thr) c.1576C>A (p.Pro526Thr) c.937C>A (p.Pro313Thr) c.1555C>A (p.Pro519Thr) | |
| 9 | g.137776639C= | CA1884666468 | EHMT1 | c.1813C= (p.Pro605=) c.1699C= (p.Pro567=) c.1720C= (p.Pro574=) c.1853C= (n.1853C=) c.1440C= c.982C= (p.Pro328=) c.*1548C= (n.*1548C=) c.670C= (p.Pro224=) c.361C= (p.Pro121=) n.1810G= c.1804C= (p.Pro602=) c.1795C= (p.Pro599=) c.1822C= (p.Pro608=) c.1819C= (p.Pro607=) c.1801C= (p.Pro601=) c.1744C= (p.Pro582=) c.1678C= (p.Pro560=) c.244C= (p.Pro82=) c.1657C= (p.Pro553=) c.1792C= (p.Pro598=) c.1798C= (p.Pro600=) c.1714C= (p.Pro572=) c.1642C= (p.Pro548=) c.1576C= (p.Pro526=) c.937C= (p.Pro313=) c.1555C= (p.Pro519=) | |
| 9 | g.137776639C>G | CA375775622 | EHMT1 | c.1813C>G (p.Pro605Ala) c.1699C>G (p.Pro567Ala) c.1720C>G (p.Pro574Ala) c.1853C>G (n.1853C>G) c.1440C>G c.982C>G (p.Pro328Ala) c.*1548C>G (n.*1548C>G) c.670C>G (p.Pro224Ala) c.361C>G (p.Pro121Ala) n.1810G>C c.1804C>G (p.Pro602Ala) c.1795C>G (p.Pro599Ala) c.1822C>G (p.Pro608Ala) c.1819C>G (p.Pro607Ala) c.1801C>G (p.Pro601Ala) c.1744C>G (p.Pro582Ala) c.1678C>G (p.Pro560Ala) c.244C>G (p.Pro82Ala) c.1657C>G (p.Pro553Ala) c.1792C>G (p.Pro598Ala) c.1798C>G (p.Pro600Ala) c.1714C>G (p.Pro572Ala) c.1642C>G (p.Pro548Ala) c.1576C>G (p.Pro526Ala) c.937C>G (p.Pro313Ala) c.1555C>G (p.Pro519Ala) | |
| 9 | g.137776639C>T | CA375775631 | EHMT1 | c.1813C>T (p.Pro605Ser) c.1699C>T (p.Pro567Ser) c.1720C>T (p.Pro574Ser) c.1853C>T (n.1853C>T) c.1440C>T c.982C>T (p.Pro328Ser) c.*1548C>T (n.*1548C>T) c.670C>T (p.Pro224Ser) c.361C>T (p.Pro121Ser) n.1810G>A c.1804C>T (p.Pro602Ser) c.1795C>T (p.Pro599Ser) c.1822C>T (p.Pro608Ser) c.1819C>T (p.Pro607Ser) c.1801C>T (p.Pro601Ser) c.1744C>T (p.Pro582Ser) c.1678C>T (p.Pro560Ser) c.244C>T (p.Pro82Ser) c.1657C>T (p.Pro553Ser) c.1792C>T (p.Pro598Ser) c.1798C>T (p.Pro600Ser) c.1714C>T (p.Pro572Ser) c.1642C>T (p.Pro548Ser) c.1576C>T (p.Pro526Ser) c.937C>T (p.Pro313Ser) c.1555C>T (p.Pro519Ser) | ClinVar dbSNP |
| 9 | g.137776640C>A | CA375775636 | EHMT1 | c.1814C>A (p.Pro605His) c.1700C>A (p.Pro567His) c.1721C>A (p.Pro574His) c.1854C>A (n.1854C>A) c.1441C>A c.983C>A (p.Pro328His) c.*1549C>A (n.*1549C>A) c.671C>A (p.Pro224His) c.362C>A (p.Pro121His) n.1809G>T c.1805C>A (p.Pro602His) c.1796C>A (p.Pro599His) c.1823C>A (p.Pro608His) c.1820C>A (p.Pro607His) c.1802C>A (p.Pro601His) c.1745C>A (p.Pro582His) c.1679C>A (p.Pro560His) c.245C>A (p.Pro82His) c.1658C>A (p.Pro553His) c.1793C>A (p.Pro598His) c.1799C>A (p.Pro600His) c.1715C>A (p.Pro572His) c.1643C>A (p.Pro548His) c.1577C>A (p.Pro526His) c.938C>A (p.Pro313His) c.1556C>A (p.Pro519His) | |
| 9 | g.137776640C= | CA1884666469 | EHMT1 | c.1814C= (p.Pro605=) c.1700C= (p.Pro567=) c.1721C= (p.Pro574=) c.1854C= (n.1854C=) c.1441C= c.983C= (p.Pro328=) c.*1549C= (n.*1549C=) c.671C= (p.Pro224=) c.362C= (p.Pro121=) n.1809G= c.1805C= (p.Pro602=) c.1796C= (p.Pro599=) c.1823C= (p.Pro608=) c.1820C= (p.Pro607=) c.1802C= (p.Pro601=) c.1745C= (p.Pro582=) c.1679C= (p.Pro560=) c.245C= (p.Pro82=) c.1658C= (p.Pro553=) c.1793C= (p.Pro598=) c.1799C= (p.Pro600=) c.1715C= (p.Pro572=) c.1643C= (p.Pro548=) c.1577C= (p.Pro526=) c.938C= (p.Pro313=) c.1556C= (p.Pro519=) | |
| 9 | g.137776640C>G | CA375775642 | EHMT1 | c.1814C>G (p.Pro605Arg) c.1700C>G (p.Pro567Arg) c.1721C>G (p.Pro574Arg) c.1854C>G (n.1854C>G) c.1441C>G c.983C>G (p.Pro328Arg) c.*1549C>G (n.*1549C>G) c.671C>G (p.Pro224Arg) c.362C>G (p.Pro121Arg) n.1809G>C c.1805C>G (p.Pro602Arg) c.1796C>G (p.Pro599Arg) c.1823C>G (p.Pro608Arg) c.1820C>G (p.Pro607Arg) c.1802C>G (p.Pro601Arg) c.1745C>G (p.Pro582Arg) c.1679C>G (p.Pro560Arg) c.245C>G (p.Pro82Arg) c.1658C>G (p.Pro553Arg) c.1793C>G (p.Pro598Arg) c.1799C>G (p.Pro600Arg) c.1715C>G (p.Pro572Arg) c.1643C>G (p.Pro548Arg) c.1577C>G (p.Pro526Arg) c.938C>G (p.Pro313Arg) c.1556C>G (p.Pro519Arg) | |
| 9 | g.137776640C>T | CA5374741 | EHMT1 | c.1814C>T (p.Pro605Leu) c.1700C>T (p.Pro567Leu) c.1721C>T (p.Pro574Leu) c.1854C>T (n.1854C>T) c.1441C>T c.983C>T (p.Pro328Leu) c.*1549C>T (n.*1549C>T) c.671C>T (p.Pro224Leu) c.362C>T (p.Pro121Leu) n.1809G>A c.1805C>T (p.Pro602Leu) c.1796C>T (p.Pro599Leu) c.1823C>T (p.Pro608Leu) c.1820C>T (p.Pro607Leu) c.1802C>T (p.Pro601Leu) c.1745C>T (p.Pro582Leu) c.1679C>T (p.Pro560Leu) c.245C>T (p.Pro82Leu) c.1658C>T (p.Pro553Leu) c.1793C>T (p.Pro598Leu) c.1799C>T (p.Pro600Leu) c.1715C>T (p.Pro572Leu) c.1643C>T (p.Pro548Leu) c.1577C>T (p.Pro526Leu) c.938C>T (p.Pro313Leu) c.1556C>T (p.Pro519Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137776641C>A | CA5374743 | EHMT1 | c.1815C>A (p.Pro605=) c.1701C>A (p.Pro567=) c.1722C>A (p.Pro574=) c.1855C>A (n.1855C>A) c.1442C>A c.984C>A (p.Pro328=) c.*1550C>A (n.*1550C>A) c.672C>A (p.Pro224=) c.363C>A (p.Pro121=) n.1808G>T c.1806C>A (p.Pro602=) c.1797C>A (p.Pro599=) c.1824C>A (p.Pro608=) c.1821C>A (p.Pro607=) c.1803C>A (p.Pro601=) c.1746C>A (p.Pro582=) c.1680C>A (p.Pro560=) c.246C>A (p.Pro82=) c.1659C>A (p.Pro553=) c.1794C>A (p.Pro598=) c.1800C>A (p.Pro600=) c.1716C>A (p.Pro572=) c.1644C>A (p.Pro548=) c.1578C>A (p.Pro526=) c.939C>A (p.Pro313=) c.1557C>A (p.Pro519=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137776641C= | CA1884666470 | EHMT1 | c.1815C= (p.Pro605=) c.1701C= (p.Pro567=) c.1722C= (p.Pro574=) c.1855C= (n.1855C=) c.1442C= c.984C= (p.Pro328=) c.*1550C= (n.*1550C=) c.672C= (p.Pro224=) c.363C= (p.Pro121=) n.1808G= c.1806C= (p.Pro602=) c.1797C= (p.Pro599=) c.1824C= (p.Pro608=) c.1821C= (p.Pro607=) c.1803C= (p.Pro601=) c.1746C= (p.Pro582=) c.1680C= (p.Pro560=) c.246C= (p.Pro82=) c.1659C= (p.Pro553=) c.1794C= (p.Pro598=) c.1800C= (p.Pro600=) c.1716C= (p.Pro572=) c.1644C= (p.Pro548=) c.1578C= (p.Pro526=) c.939C= (p.Pro313=) c.1557C= (p.Pro519=) | |
| 9 | g.137776641C>G | CA467874044 | EHMT1 | c.1815C>G (p.Pro605=) c.1701C>G (p.Pro567=) c.1722C>G (p.Pro574=) c.1855C>G (n.1855C>G) c.1442C>G c.984C>G (p.Pro328=) c.*1550C>G (n.*1550C>G) c.672C>G (p.Pro224=) c.363C>G (p.Pro121=) n.1808G>C c.1806C>G (p.Pro602=) c.1797C>G (p.Pro599=) c.1824C>G (p.Pro608=) c.1821C>G (p.Pro607=) c.1803C>G (p.Pro601=) c.1746C>G (p.Pro582=) c.1680C>G (p.Pro560=) c.246C>G (p.Pro82=) c.1659C>G (p.Pro553=) c.1794C>G (p.Pro598=) c.1800C>G (p.Pro600=) c.1716C>G (p.Pro572=) c.1644C>G (p.Pro548=) c.1578C>G (p.Pro526=) c.939C>G (p.Pro313=) c.1557C>G (p.Pro519=) | |
| 9 | g.137776641C>T | CA5374742 | EHMT1 | c.1815C>T (p.Pro605=) c.1701C>T (p.Pro567=) c.1722C>T (p.Pro574=) c.1855C>T (n.1855C>T) c.1442C>T c.984C>T (p.Pro328=) c.*1550C>T (n.*1550C>T) c.672C>T (p.Pro224=) c.363C>T (p.Pro121=) n.1808G>A c.1806C>T (p.Pro602=) c.1797C>T (p.Pro599=) c.1824C>T (p.Pro608=) c.1821C>T (p.Pro607=) c.1803C>T (p.Pro601=) c.1746C>T (p.Pro582=) c.1680C>T (p.Pro560=) c.246C>T (p.Pro82=) c.1659C>T (p.Pro553=) c.1794C>T (p.Pro598=) c.1800C>T (p.Pro600=) c.1716C>T (p.Pro572=) c.1644C>T (p.Pro548=) c.1578C>T (p.Pro526=) c.939C>T (p.Pro313=) c.1557C>T (p.Pro519=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137776642G>A | CA5374744 | EHMT1 | c.1816G>A (p.Glu606Lys) c.1702G>A (p.Glu568Lys) c.1723G>A (p.Glu575Lys) c.1856G>A (n.1856G>A) c.1443G>A c.985G>A (p.Glu329Lys) c.*1551G>A (n.*1551G>A) c.673G>A (p.Glu225Lys) c.364G>A (p.Glu122Lys) n.1807C>T c.1807G>A (p.Glu603Lys) c.1798G>A (p.Glu600Lys) c.1825G>A (p.Glu609Lys) c.1822G>A (p.Glu608Lys) c.1804G>A (p.Glu602Lys) c.1747G>A (p.Glu583Lys) c.1681G>A (p.Glu561Lys) c.247G>A (p.Glu83Lys) c.1660G>A (p.Glu554Lys) c.1795G>A (p.Glu599Lys) c.1801G>A (p.Glu601Lys) c.1717G>A (p.Glu573Lys) c.1645G>A (p.Glu549Lys) c.1579G>A (p.Glu527Lys) c.940G>A (p.Glu314Lys) c.1558G>A (p.Glu520Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137776642G>C | CA375775665 | EHMT1 | c.1816G>C (p.Glu606Gln) c.1702G>C (p.Glu568Gln) c.1723G>C (p.Glu575Gln) c.1856G>C (n.1856G>C) c.1443G>C c.985G>C (p.Glu329Gln) c.*1551G>C (n.*1551G>C) c.673G>C (p.Glu225Gln) c.364G>C (p.Glu122Gln) n.1807C>G c.1807G>C (p.Glu603Gln) c.1798G>C (p.Glu600Gln) c.1825G>C (p.Glu609Gln) c.1822G>C (p.Glu608Gln) c.1804G>C (p.Glu602Gln) c.1747G>C (p.Glu583Gln) c.1681G>C (p.Glu561Gln) c.247G>C (p.Glu83Gln) c.1660G>C (p.Glu554Gln) c.1795G>C (p.Glu599Gln) c.1801G>C (p.Glu601Gln) c.1717G>C (p.Glu573Gln) c.1645G>C (p.Glu549Gln) c.1579G>C (p.Glu527Gln) c.940G>C (p.Glu314Gln) c.1558G>C (p.Glu520Gln) | |
| 9 | g.137776642G= | CA1884666471 | EHMT1 | c.1816G= (p.Glu606=) c.1702G= (p.Glu568=) c.1723G= (p.Glu575=) c.1856G= (n.1856G=) c.1443G= c.985G= (p.Glu329=) c.*1551G= (n.*1551G=) c.673G= (p.Glu225=) c.364G= (p.Glu122=) n.1807C= c.1807G= (p.Glu603=) c.1798G= (p.Glu600=) c.1825G= (p.Glu609=) c.1822G= (p.Glu608=) c.1804G= (p.Glu602=) c.1747G= (p.Glu583=) c.1681G= (p.Glu561=) c.247G= (p.Glu83=) c.1660G= (p.Glu554=) c.1795G= (p.Glu599=) c.1801G= (p.Glu601=) c.1717G= (p.Glu573=) c.1645G= (p.Glu549=) c.1579G= (p.Glu527=) c.940G= (p.Glu314=) c.1558G= (p.Glu520=) | |
| 9 | g.137776642G>T | CA375775661 | EHMT1 | c.1816G>T (p.Glu606Ter) c.1702G>T (p.Glu568Ter) c.1723G>T (p.Glu575Ter) c.1856G>T (n.1856G>T) c.1443G>T c.985G>T (p.Glu329Ter) c.*1551G>T (n.*1551G>T) c.673G>T (p.Glu225Ter) c.364G>T (p.Glu122Ter) n.1807C>A c.1807G>T (p.Glu603Ter) c.1798G>T (p.Glu600Ter) c.1825G>T (p.Glu609Ter) c.1822G>T (p.Glu608Ter) c.1804G>T (p.Glu602Ter) c.1747G>T (p.Glu583Ter) c.1681G>T (p.Glu561Ter) c.247G>T (p.Glu83Ter) c.1660G>T (p.Glu554Ter) c.1795G>T (p.Glu599Ter) c.1801G>T (p.Glu601Ter) c.1717G>T (p.Glu573Ter) c.1645G>T (p.Glu549Ter) c.1579G>T (p.Glu527Ter) c.940G>T (p.Glu314Ter) c.1558G>T (p.Glu520Ter) | gnomAD v4 |
| 9 | g.137776643A>C | CA375775671 | EHMT1 | c.1817A>C (p.Glu606Ala) c.1703A>C (p.Glu568Ala) c.1724A>C (p.Glu575Ala) c.1857A>C (n.1857A>C) c.1444A>C c.986A>C (p.Glu329Ala) c.*1552A>C (n.*1552A>C) c.674A>C (p.Glu225Ala) c.365A>C (p.Glu122Ala) n.1806T>G c.1808A>C (p.Glu603Ala) c.1799A>C (p.Glu600Ala) c.1826A>C (p.Glu609Ala) c.1823A>C (p.Glu608Ala) c.1805A>C (p.Glu602Ala) c.1748A>C (p.Glu583Ala) c.1682A>C (p.Glu561Ala) c.248A>C (p.Glu83Ala) c.1661A>C (p.Glu554Ala) c.1796A>C (p.Glu599Ala) c.1802A>C (p.Glu601Ala) c.1718A>C (p.Glu573Ala) c.1646A>C (p.Glu549Ala) c.1580A>C (p.Glu527Ala) c.941A>C (p.Glu314Ala) c.1559A>C (p.Glu520Ala) | |
| 9 | g.137776643A>G | CA375775673 | EHMT1 | c.1817A>G (p.Glu606Gly) c.1703A>G (p.Glu568Gly) c.1724A>G (p.Glu575Gly) c.1857A>G (n.1857A>G) c.1444A>G c.986A>G (p.Glu329Gly) c.*1552A>G (n.*1552A>G) c.674A>G (p.Glu225Gly) c.365A>G (p.Glu122Gly) n.1806T>C c.1808A>G (p.Glu603Gly) c.1799A>G (p.Glu600Gly) c.1826A>G (p.Glu609Gly) c.1823A>G (p.Glu608Gly) c.1805A>G (p.Glu602Gly) c.1748A>G (p.Glu583Gly) c.1682A>G (p.Glu561Gly) c.248A>G (p.Glu83Gly) c.1661A>G (p.Glu554Gly) c.1796A>G (p.Glu599Gly) c.1802A>G (p.Glu601Gly) c.1718A>G (p.Glu573Gly) c.1646A>G (p.Glu549Gly) c.1580A>G (p.Glu527Gly) c.941A>G (p.Glu314Gly) c.1559A>G (p.Glu520Gly) | |
| 9 | g.137776643A>T | CA375775675 | EHMT1 | c.1817A>T (p.Glu606Val) c.1703A>T (p.Glu568Val) c.1724A>T (p.Glu575Val) c.1857A>T (n.1857A>T) c.1444A>T c.986A>T (p.Glu329Val) c.*1552A>T (n.*1552A>T) c.674A>T (p.Glu225Val) c.365A>T (p.Glu122Val) n.1806T>A c.1808A>T (p.Glu603Val) c.1799A>T (p.Glu600Val) c.1826A>T (p.Glu609Val) c.1823A>T (p.Glu608Val) c.1805A>T (p.Glu602Val) c.1748A>T (p.Glu583Val) c.1682A>T (p.Glu561Val) c.248A>T (p.Glu83Val) c.1661A>T (p.Glu554Val) c.1796A>T (p.Glu599Val) c.1802A>T (p.Glu601Val) c.1718A>T (p.Glu573Val) c.1646A>T (p.Glu549Val) c.1580A>T (p.Glu527Val) c.941A>T (p.Glu314Val) c.1559A>T (p.Glu520Val) | |
| 9 | g.137776644G>A | CA467874045 | EHMT1 | c.1818G>A (p.Glu606=) c.1704G>A (p.Glu568=) c.1725G>A (p.Glu575=) c.1858G>A (n.1858G>A) c.1445G>A c.987G>A (p.Glu329=) c.*1553G>A (n.*1553G>A) c.675G>A (p.Glu225=) c.366G>A (p.Glu122=) n.1805C>T c.1809G>A (p.Glu603=) c.1800G>A (p.Glu600=) c.1827G>A (p.Glu609=) c.1824G>A (p.Glu608=) c.1806G>A (p.Glu602=) c.1749G>A (p.Glu583=) c.1683G>A (p.Glu561=) c.249G>A (p.Glu83=) c.1662G>A (p.Glu554=) c.1797G>A (p.Glu599=) c.1803G>A (p.Glu601=) c.1719G>A (p.Glu573=) c.1647G>A (p.Glu549=) c.1581G>A (p.Glu527=) c.942G>A (p.Glu314=) c.1560G>A (p.Glu520=) | |
| 9 | g.137776644G>C | CA375775676 | EHMT1 | c.1818G>C (p.Glu606Asp) c.1704G>C (p.Glu568Asp) c.1725G>C (p.Glu575Asp) c.1858G>C (n.1858G>C) c.1445G>C c.987G>C (p.Glu329Asp) c.*1553G>C (n.*1553G>C) c.675G>C (p.Glu225Asp) c.366G>C (p.Glu122Asp) n.1805C>G c.1809G>C (p.Glu603Asp) c.1800G>C (p.Glu600Asp) c.1827G>C (p.Glu609Asp) c.1824G>C (p.Glu608Asp) c.1806G>C (p.Glu602Asp) c.1749G>C (p.Glu583Asp) c.1683G>C (p.Glu561Asp) c.249G>C (p.Glu83Asp) c.1662G>C (p.Glu554Asp) c.1797G>C (p.Glu599Asp) c.1803G>C (p.Glu601Asp) c.1719G>C (p.Glu573Asp) c.1647G>C (p.Glu549Asp) c.1581G>C (p.Glu527Asp) c.942G>C (p.Glu314Asp) c.1560G>C (p.Glu520Asp) | |
| 9 | g.137776644G>T | CA375775678 | EHMT1 | c.1818G>T (p.Glu606Asp) c.1704G>T (p.Glu568Asp) c.1725G>T (p.Glu575Asp) c.1858G>T (n.1858G>T) c.1445G>T c.987G>T (p.Glu329Asp) c.*1553G>T (n.*1553G>T) c.675G>T (p.Glu225Asp) c.366G>T (p.Glu122Asp) n.1805C>A c.1809G>T (p.Glu603Asp) c.1800G>T (p.Glu600Asp) c.1827G>T (p.Glu609Asp) c.1824G>T (p.Glu608Asp) c.1806G>T (p.Glu602Asp) c.1749G>T (p.Glu583Asp) c.1683G>T (p.Glu561Asp) c.249G>T (p.Glu83Asp) c.1662G>T (p.Glu554Asp) c.1797G>T (p.Glu599Asp) c.1803G>T (p.Glu601Asp) c.1719G>T (p.Glu573Asp) c.1647G>T (p.Glu549Asp) c.1581G>T (p.Glu527Asp) c.942G>T (p.Glu314Asp) c.1560G>T (p.Glu520Asp) | |
| 9 | g.137776645A= | CA1884666472 | EHMT1 | c.1819A= (p.Ser607=) c.1705A= (p.Ser569=) c.1726A= (p.Ser576=) c.1859A= (n.1859A=) c.1446A= c.988A= (p.Ser330=) c.*1554A= (n.*1554A=) c.676A= (p.Ser226=) c.367A= (p.Ser123=) n.1804T= c.1810A= (p.Ser604=) c.1801A= (p.Ser601=) c.1828A= (p.Ser610=) c.1825A= (p.Ser609=) c.1807A= (p.Ser603=) c.1750A= (p.Ser584=) c.1684A= (p.Ser562=) c.250A= (p.Ser84=) c.1663A= (p.Ser555=) c.1798A= (p.Ser600=) c.1804A= (p.Ser602=) c.1720A= (p.Ser574=) c.1648A= (p.Ser550=) c.1582A= (p.Ser528=) c.943A= (p.Ser315=) c.1561A= (p.Ser521=) | |
| 9 | g.137776645A>C | CA375775680 | EHMT1 | c.1819A>C (p.Ser607Arg) c.1705A>C (p.Ser569Arg) c.1726A>C (p.Ser576Arg) c.1859A>C (n.1859A>C) c.1446A>C c.988A>C (p.Ser330Arg) c.*1554A>C (n.*1554A>C) c.676A>C (p.Ser226Arg) c.367A>C (p.Ser123Arg) n.1804T>G c.1810A>C (p.Ser604Arg) c.1801A>C (p.Ser601Arg) c.1828A>C (p.Ser610Arg) c.1825A>C (p.Ser609Arg) c.1807A>C (p.Ser603Arg) c.1750A>C (p.Ser584Arg) c.1684A>C (p.Ser562Arg) c.250A>C (p.Ser84Arg) c.1663A>C (p.Ser555Arg) c.1798A>C (p.Ser600Arg) c.1804A>C (p.Ser602Arg) c.1720A>C (p.Ser574Arg) c.1648A>C (p.Ser550Arg) c.1582A>C (p.Ser528Arg) c.943A>C (p.Ser315Arg) c.1561A>C (p.Ser521Arg) | |
| 9 | g.137776645A>G | CA375775682 | EHMT1 | c.1819A>G (p.Ser607Gly) c.1705A>G (p.Ser569Gly) c.1726A>G (p.Ser576Gly) c.1859A>G (n.1859A>G) c.1446A>G c.988A>G (p.Ser330Gly) c.*1554A>G (n.*1554A>G) c.676A>G (p.Ser226Gly) c.367A>G (p.Ser123Gly) n.1804T>C c.1810A>G (p.Ser604Gly) c.1801A>G (p.Ser601Gly) c.1828A>G (p.Ser610Gly) c.1825A>G (p.Ser609Gly) c.1807A>G (p.Ser603Gly) c.1750A>G (p.Ser584Gly) c.1684A>G (p.Ser562Gly) c.250A>G (p.Ser84Gly) c.1663A>G (p.Ser555Gly) c.1798A>G (p.Ser600Gly) c.1804A>G (p.Ser602Gly) c.1720A>G (p.Ser574Gly) c.1648A>G (p.Ser550Gly) c.1582A>G (p.Ser528Gly) c.943A>G (p.Ser315Gly) c.1561A>G (p.Ser521Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137776645A>T | CA375775685 | EHMT1 | c.1819A>T (p.Ser607Cys) c.1705A>T (p.Ser569Cys) c.1726A>T (p.Ser576Cys) c.1859A>T (n.1859A>T) c.1446A>T c.988A>T (p.Ser330Cys) c.*1554A>T (n.*1554A>T) c.676A>T (p.Ser226Cys) c.367A>T (p.Ser123Cys) n.1804T>A c.1810A>T (p.Ser604Cys) c.1801A>T (p.Ser601Cys) c.1828A>T (p.Ser610Cys) c.1825A>T (p.Ser609Cys) c.1807A>T (p.Ser603Cys) c.1750A>T (p.Ser584Cys) c.1684A>T (p.Ser562Cys) c.250A>T (p.Ser84Cys) c.1663A>T (p.Ser555Cys) c.1798A>T (p.Ser600Cys) c.1804A>T (p.Ser602Cys) c.1720A>T (p.Ser574Cys) c.1648A>T (p.Ser550Cys) c.1582A>T (p.Ser528Cys) c.943A>T (p.Ser315Cys) c.1561A>T (p.Ser521Cys) | |
| 9 | g.137776646G>A | CA375775694 | EHMT1 | c.1820G>A (p.Ser607Asn) c.1706G>A (p.Ser569Asn) c.1727G>A (p.Ser576Asn) c.1860G>A (n.1860G>A) c.1447G>A c.989G>A (p.Ser330Asn) c.*1555G>A (n.*1555G>A) c.677G>A (p.Ser226Asn) c.368G>A (p.Ser123Asn) n.1803C>T c.1811G>A (p.Ser604Asn) c.1802G>A (p.Ser601Asn) c.1829G>A (p.Ser610Asn) c.1826G>A (p.Ser609Asn) c.1808G>A (p.Ser603Asn) c.1751G>A (p.Ser584Asn) c.1685G>A (p.Ser562Asn) c.251G>A (p.Ser84Asn) c.1664G>A (p.Ser555Asn) c.1799G>A (p.Ser600Asn) c.1805G>A (p.Ser602Asn) c.1721G>A (p.Ser574Asn) c.1649G>A (p.Ser550Asn) c.1583G>A (p.Ser528Asn) c.944G>A (p.Ser315Asn) c.1562G>A (p.Ser521Asn) | |
| 9 | g.137776646G>C | CA375775704 | EHMT1 | c.1820G>C (p.Ser607Thr) c.1706G>C (p.Ser569Thr) c.1727G>C (p.Ser576Thr) c.1860G>C (n.1860G>C) c.1447G>C c.989G>C (p.Ser330Thr) c.*1555G>C (n.*1555G>C) c.677G>C (p.Ser226Thr) c.368G>C (p.Ser123Thr) n.1803C>G c.1811G>C (p.Ser604Thr) c.1802G>C (p.Ser601Thr) c.1829G>C (p.Ser610Thr) c.1826G>C (p.Ser609Thr) c.1808G>C (p.Ser603Thr) c.1751G>C (p.Ser584Thr) c.1685G>C (p.Ser562Thr) c.251G>C (p.Ser84Thr) c.1664G>C (p.Ser555Thr) c.1799G>C (p.Ser600Thr) c.1805G>C (p.Ser602Thr) c.1721G>C (p.Ser574Thr) c.1649G>C (p.Ser550Thr) c.1583G>C (p.Ser528Thr) c.944G>C (p.Ser315Thr) c.1562G>C (p.Ser521Thr) | ClinVar dbSNP |
| 9 | g.137776646G>T | CA375775705 | EHMT1 | c.1820G>T (p.Ser607Ile) c.1706G>T (p.Ser569Ile) c.1727G>T (p.Ser576Ile) c.1860G>T (n.1860G>T) c.1447G>T c.989G>T (p.Ser330Ile) c.*1555G>T (n.*1555G>T) c.677G>T (p.Ser226Ile) c.368G>T (p.Ser123Ile) n.1803C>A c.1811G>T (p.Ser604Ile) c.1802G>T (p.Ser601Ile) c.1829G>T (p.Ser610Ile) c.1826G>T (p.Ser609Ile) c.1808G>T (p.Ser603Ile) c.1751G>T (p.Ser584Ile) c.1685G>T (p.Ser562Ile) c.251G>T (p.Ser84Ile) c.1664G>T (p.Ser555Ile) c.1799G>T (p.Ser600Ile) c.1805G>T (p.Ser602Ile) c.1721G>T (p.Ser574Ile) c.1649G>T (p.Ser550Ile) c.1583G>T (p.Ser528Ile) c.944G>T (p.Ser315Ile) c.1562G>T (p.Ser521Ile) | |
| 9 | g.137776647C>A | CA375775711 | EHMT1 | c.1821C>A (p.Ser607Arg) c.1707C>A (p.Ser569Arg) c.1728C>A (p.Ser576Arg) c.1861C>A (n.1861C>A) c.1448C>A c.990C>A (p.Ser330Arg) c.*1556C>A (n.*1556C>A) c.678C>A (p.Ser226Arg) c.369C>A (p.Ser123Arg) n.1802G>T c.1812C>A (p.Ser604Arg) c.1803C>A (p.Ser601Arg) c.1830C>A (p.Ser610Arg) c.1827C>A (p.Ser609Arg) c.1809C>A (p.Ser603Arg) c.1752C>A (p.Ser584Arg) c.1686C>A (p.Ser562Arg) c.252C>A (p.Ser84Arg) c.1665C>A (p.Ser555Arg) c.1800C>A (p.Ser600Arg) c.1806C>A (p.Ser602Arg) c.1722C>A (p.Ser574Arg) c.1650C>A (p.Ser550Arg) c.1584C>A (p.Ser528Arg) c.945C>A (p.Ser315Arg) c.1563C>A (p.Ser521Arg) | |
| 9 | g.137776647C>G | CA375775720 | EHMT1 | c.1821C>G (p.Ser607Arg) c.1707C>G (p.Ser569Arg) c.1728C>G (p.Ser576Arg) c.1861C>G (n.1861C>G) c.1448C>G c.990C>G (p.Ser330Arg) c.*1556C>G (n.*1556C>G) c.678C>G (p.Ser226Arg) c.369C>G (p.Ser123Arg) n.1802G>C c.1812C>G (p.Ser604Arg) c.1803C>G (p.Ser601Arg) c.1830C>G (p.Ser610Arg) c.1827C>G (p.Ser609Arg) c.1809C>G (p.Ser603Arg) c.1752C>G (p.Ser584Arg) c.1686C>G (p.Ser562Arg) c.252C>G (p.Ser84Arg) c.1665C>G (p.Ser555Arg) c.1800C>G (p.Ser600Arg) c.1806C>G (p.Ser602Arg) c.1722C>G (p.Ser574Arg) c.1650C>G (p.Ser550Arg) c.1584C>G (p.Ser528Arg) c.945C>G (p.Ser315Arg) c.1563C>G (p.Ser521Arg) | |
| 9 | g.137776647C>T | CA467874046 | EHMT1 | c.1821C>T (p.Ser607=) c.1707C>T (p.Ser569=) c.1728C>T (p.Ser576=) c.1861C>T (n.1861C>T) c.1448C>T c.990C>T (p.Ser330=) c.*1556C>T (n.*1556C>T) c.678C>T (p.Ser226=) c.369C>T (p.Ser123=) n.1802G>A c.1812C>T (p.Ser604=) c.1803C>T (p.Ser601=) c.1830C>T (p.Ser610=) c.1827C>T (p.Ser609=) c.1809C>T (p.Ser603=) c.1752C>T (p.Ser584=) c.1686C>T (p.Ser562=) c.252C>T (p.Ser84=) c.1665C>T (p.Ser555=) c.1800C>T (p.Ser600=) c.1806C>T (p.Ser602=) c.1722C>T (p.Ser574=) c.1650C>T (p.Ser550=) c.1584C>T (p.Ser528=) c.945C>T (p.Ser315=) c.1563C>T (p.Ser521=) | |
| 9 | g.137776648A>C | CA375775732 | EHMT1 | c.1822A>C (p.Ser608Arg) c.1708A>C (p.Ser570Arg) c.1729A>C (p.Ser577Arg) c.1862A>C (n.1862A>C) c.1449A>C c.991A>C (p.Ser331Arg) c.*1557A>C (n.*1557A>C) c.679A>C (p.Ser227Arg) c.370A>C (p.Ser124Arg) n.1801T>G c.1813A>C (p.Ser605Arg) c.1804A>C (p.Ser602Arg) c.1831A>C (p.Ser611Arg) c.1828A>C (p.Ser610Arg) c.1810A>C (p.Ser604Arg) c.1753A>C (p.Ser585Arg) c.1687A>C (p.Ser563Arg) c.253A>C (p.Ser85Arg) c.1666A>C (p.Ser556Arg) c.1801A>C (p.Ser601Arg) c.1807A>C (p.Ser603Arg) c.1723A>C (p.Ser575Arg) c.1651A>C (p.Ser551Arg) c.1585A>C (p.Ser529Arg) c.946A>C (p.Ser316Arg) c.1564A>C (p.Ser522Arg) | |
| 9 | g.137776648A>G | CA375775731 | EHMT1 | c.1822A>G (p.Ser608Gly) c.1708A>G (p.Ser570Gly) c.1729A>G (p.Ser577Gly) c.1862A>G (n.1862A>G) c.1449A>G c.991A>G (p.Ser331Gly) c.*1557A>G (n.*1557A>G) c.679A>G (p.Ser227Gly) c.370A>G (p.Ser124Gly) n.1801T>C c.1813A>G (p.Ser605Gly) c.1804A>G (p.Ser602Gly) c.1831A>G (p.Ser611Gly) c.1828A>G (p.Ser610Gly) c.1810A>G (p.Ser604Gly) c.1753A>G (p.Ser585Gly) c.1687A>G (p.Ser563Gly) c.253A>G (p.Ser85Gly) c.1666A>G (p.Ser556Gly) c.1801A>G (p.Ser601Gly) c.1807A>G (p.Ser603Gly) c.1723A>G (p.Ser575Gly) c.1651A>G (p.Ser551Gly) c.1585A>G (p.Ser529Gly) c.946A>G (p.Ser316Gly) c.1564A>G (p.Ser522Gly) | |
| 9 | g.137776648A>T | CA375775727 | EHMT1 | c.1822A>T (p.Ser608Cys) c.1708A>T (p.Ser570Cys) c.1729A>T (p.Ser577Cys) c.1862A>T (n.1862A>T) c.1449A>T c.991A>T (p.Ser331Cys) c.*1557A>T (n.*1557A>T) c.679A>T (p.Ser227Cys) c.370A>T (p.Ser124Cys) n.1801T>A c.1813A>T (p.Ser605Cys) c.1804A>T (p.Ser602Cys) c.1831A>T (p.Ser611Cys) c.1828A>T (p.Ser610Cys) c.1810A>T (p.Ser604Cys) c.1753A>T (p.Ser585Cys) c.1687A>T (p.Ser563Cys) c.253A>T (p.Ser85Cys) c.1666A>T (p.Ser556Cys) c.1801A>T (p.Ser601Cys) c.1807A>T (p.Ser603Cys) c.1723A>T (p.Ser575Cys) c.1651A>T (p.Ser551Cys) c.1585A>T (p.Ser529Cys) c.946A>T (p.Ser316Cys) c.1564A>T (p.Ser522Cys) | |
| 9 | g.137776649G>A | CA375775737 | EHMT1 | c.1823G>A (p.Ser608Asn) c.1709G>A (p.Ser570Asn) c.1730G>A (p.Ser577Asn) c.1863G>A (n.1863G>A) c.1450G>A c.992G>A (p.Ser331Asn) c.*1558G>A (n.*1558G>A) c.680G>A (p.Ser227Asn) c.371G>A (p.Ser124Asn) n.1800C>T c.1814G>A (p.Ser605Asn) c.1805G>A (p.Ser602Asn) c.1832G>A (p.Ser611Asn) c.1829G>A (p.Ser610Asn) c.1811G>A (p.Ser604Asn) c.1754G>A (p.Ser585Asn) c.1688G>A (p.Ser563Asn) c.254G>A (p.Ser85Asn) c.1667G>A (p.Ser556Asn) c.1802G>A (p.Ser601Asn) c.1808G>A (p.Ser603Asn) c.1724G>A (p.Ser575Asn) c.1652G>A (p.Ser551Asn) c.1586G>A (p.Ser529Asn) c.947G>A (p.Ser316Asn) c.1565G>A (p.Ser522Asn) | |
| 9 | g.137776649G>C | CA375775751 | EHMT1 | c.1823G>C (p.Ser608Thr) c.1709G>C (p.Ser570Thr) c.1730G>C (p.Ser577Thr) c.1863G>C (n.1863G>C) c.1450G>C c.992G>C (p.Ser331Thr) c.*1558G>C (n.*1558G>C) c.680G>C (p.Ser227Thr) c.371G>C (p.Ser124Thr) n.1800C>G c.1814G>C (p.Ser605Thr) c.1805G>C (p.Ser602Thr) c.1832G>C (p.Ser611Thr) c.1829G>C (p.Ser610Thr) c.1811G>C (p.Ser604Thr) c.1754G>C (p.Ser585Thr) c.1688G>C (p.Ser563Thr) c.254G>C (p.Ser85Thr) c.1667G>C (p.Ser556Thr) c.1802G>C (p.Ser601Thr) c.1808G>C (p.Ser603Thr) c.1724G>C (p.Ser575Thr) c.1652G>C (p.Ser551Thr) c.1586G>C (p.Ser529Thr) c.947G>C (p.Ser316Thr) c.1565G>C (p.Ser522Thr) |