Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137776745_137776749dupCA2580081005EHMT1c.1919_1923dup (p.Ile642Ter)
c.1805_1809dup (p.Ile604Ter)
c.1826_1830dup (p.Ile611Ter)
c.1959_1963dup (n.1959_1963dup)
c.1546_1550dup
c.1088_1092dup (p.Ile365Ter)
c.*1654_*1658dup (n.*1654_*1658dup)
c.776_780dup (p.Ile261Ter)
c.467_471dup (p.Ile158Ter)
n.1701_1705dup
c.1910_1914dup (p.Ile639Ter)
c.1901_1905dup (p.Ile636Ter)
c.1928_1932dup (p.Ile645Ter)
c.1925_1929dup (p.Ile644Ter)
c.1907_1911dup (p.Ile638Ter)
c.1850_1854dup (p.Ile619Ter)
c.1784_1788dup (p.Ile597Ter)
c.350_354dup (p.Ile119Ter)
c.1763_1767dup (p.Ile590Ter)
c.1898_1902dup (p.Ile635Ter)
c.1904_1908dup (p.Ile637Ter)
c.1820_1824dup (p.Ile609Ter)
c.1748_1752dup (p.Ile585Ter)
c.1682_1686dup (p.Ile563Ter)
c.1043_1047dup (p.Ile350Ter)
c.1661_1665dup (p.Ile556Ter)
 ClinVar
9g.137776748_137776750dupCA1884666503EHMT1c.1922_1924dup (p.Thr641_Ile642insThr)
c.1808_1810dup (p.Thr603_Ile604insThr)
c.1829_1831dup (p.Thr610_Ile611insThr)
c.1962_1964dup (n.1962_1964dup)
c.1549_1551dup
c.1091_1093dup (p.Thr364_Ile365insThr)
c.*1657_*1659dup (n.*1657_*1659dup)
c.779_781dup (p.Thr260_Ile261insThr)
c.470_472dup (p.Thr157_Ile158insThr)
n.1701_1703dup
c.1913_1915dup (p.Thr638_Ile639insThr)
c.1904_1906dup (p.Thr635_Ile636insThr)
c.1931_1933dup (p.Thr644_Ile645insThr)
c.1928_1930dup (p.Thr643_Ile644insThr)
c.1910_1912dup (p.Thr637_Ile638insThr)
c.1853_1855dup (p.Thr618_Ile619insThr)
c.1787_1789dup (p.Thr596_Ile597insThr)
c.353_355dup (p.Thr118_Ile119insThr)
c.1766_1768dup (p.Thr589_Ile590insThr)
c.1901_1903dup (p.Thr634_Ile635insThr)
c.1907_1909dup (p.Thr636_Ile637insThr)
c.1823_1825dup (p.Thr608_Ile609insThr)
c.1751_1753dup (p.Thr584_Ile585insThr)
c.1685_1687dup (p.Thr562_Ile563insThr)
c.1046_1048dup (p.Thr349_Ile350insThr)
c.1664_1666dup (p.Thr555_Ile556insThr)
 ClinVar dbSNP gnomAD v4
9g.137776747A>CCA375776503EHMT1c.1921A>C (p.Thr641Pro)
c.1807A>C (p.Thr603Pro)
c.1828A>C (p.Thr610Pro)
c.1961A>C (n.1961A>C)
c.1548A>C
c.1090A>C (p.Thr364Pro)
c.*1656A>C (n.*1656A>C)
c.778A>C (p.Thr260Pro)
c.469A>C (p.Thr157Pro)
n.1702T>G
c.1912A>C (p.Thr638Pro)
c.1903A>C (p.Thr635Pro)
c.1930A>C (p.Thr644Pro)
c.1927A>C (p.Thr643Pro)
c.1909A>C (p.Thr637Pro)
c.1852A>C (p.Thr618Pro)
c.1786A>C (p.Thr596Pro)
c.352A>C (p.Thr118Pro)
c.1765A>C (p.Thr589Pro)
c.1900A>C (p.Thr634Pro)
c.1906A>C (p.Thr636Pro)
c.1822A>C (p.Thr608Pro)
c.1750A>C (p.Thr584Pro)
c.1684A>C (p.Thr562Pro)
c.1045A>C (p.Thr349Pro)
c.1663A>C (p.Thr555Pro)
9g.137776747A>GCA375776505EHMT1c.1921A>G (p.Thr641Ala)
c.1807A>G (p.Thr603Ala)
c.1828A>G (p.Thr610Ala)
c.1961A>G (n.1961A>G)
c.1548A>G
c.1090A>G (p.Thr364Ala)
c.*1656A>G (n.*1656A>G)
c.778A>G (p.Thr260Ala)
c.469A>G (p.Thr157Ala)
n.1702T>C
c.1912A>G (p.Thr638Ala)
c.1903A>G (p.Thr635Ala)
c.1930A>G (p.Thr644Ala)
c.1927A>G (p.Thr643Ala)
c.1909A>G (p.Thr637Ala)
c.1852A>G (p.Thr618Ala)
c.1786A>G (p.Thr596Ala)
c.352A>G (p.Thr118Ala)
c.1765A>G (p.Thr589Ala)
c.1900A>G (p.Thr634Ala)
c.1906A>G (p.Thr636Ala)
c.1822A>G (p.Thr608Ala)
c.1750A>G (p.Thr584Ala)
c.1684A>G (p.Thr562Ala)
c.1045A>G (p.Thr349Ala)
c.1663A>G (p.Thr555Ala)
 gnomAD v4
9g.137776747A>TCA375776508EHMT1c.1921A>T (p.Thr641Ser)
c.1807A>T (p.Thr603Ser)
c.1828A>T (p.Thr610Ser)
c.1961A>T (n.1961A>T)
c.1548A>T
c.1090A>T (p.Thr364Ser)
c.*1656A>T (n.*1656A>T)
c.778A>T (p.Thr260Ser)
c.469A>T (p.Thr157Ser)
n.1702T>A
c.1912A>T (p.Thr638Ser)
c.1903A>T (p.Thr635Ser)
c.1930A>T (p.Thr644Ser)
c.1927A>T (p.Thr643Ser)
c.1909A>T (p.Thr637Ser)
c.1852A>T (p.Thr618Ser)
c.1786A>T (p.Thr596Ser)
c.352A>T (p.Thr118Ser)
c.1765A>T (p.Thr589Ser)
c.1900A>T (p.Thr634Ser)
c.1906A>T (p.Thr636Ser)
c.1822A>T (p.Thr608Ser)
c.1750A>T (p.Thr584Ser)
c.1684A>T (p.Thr562Ser)
c.1045A>T (p.Thr349Ser)
c.1663A>T (p.Thr555Ser)
 gnomAD v4
9g.137776748C>ACA375776510EHMT1c.1922C>A (p.Thr641Lys)
c.1808C>A (p.Thr603Lys)
c.1829C>A (p.Thr610Lys)
c.1962C>A (n.1962C>A)
c.1549C>A
c.1091C>A (p.Thr364Lys)
c.*1657C>A (n.*1657C>A)
c.779C>A (p.Thr260Lys)
c.470C>A (p.Thr157Lys)
n.1701G>T
c.1913C>A (p.Thr638Lys)
c.1904C>A (p.Thr635Lys)
c.1931C>A (p.Thr644Lys)
c.1928C>A (p.Thr643Lys)
c.1910C>A (p.Thr637Lys)
c.1853C>A (p.Thr618Lys)
c.1787C>A (p.Thr596Lys)
c.353C>A (p.Thr118Lys)
c.1766C>A (p.Thr589Lys)
c.1901C>A (p.Thr634Lys)
c.1907C>A (p.Thr636Lys)
c.1823C>A (p.Thr608Lys)
c.1751C>A (p.Thr584Lys)
c.1685C>A (p.Thr562Lys)
c.1046C>A (p.Thr349Lys)
c.1664C>A (p.Thr555Lys)
9g.137776748C=CA1884666504EHMT1c.1922C= (p.Thr641=)
c.1808C= (p.Thr603=)
c.1829C= (p.Thr610=)
c.1962C= (n.1962C=)
c.1549C=
c.1091C= (p.Thr364=)
c.*1657C= (n.*1657C=)
c.779C= (p.Thr260=)
c.470C= (p.Thr157=)
n.1701G=
c.1913C= (p.Thr638=)
c.1904C= (p.Thr635=)
c.1931C= (p.Thr644=)
c.1928C= (p.Thr643=)
c.1910C= (p.Thr637=)
c.1853C= (p.Thr618=)
c.1787C= (p.Thr596=)
c.353C= (p.Thr118=)
c.1766C= (p.Thr589=)
c.1901C= (p.Thr634=)
c.1907C= (p.Thr636=)
c.1823C= (p.Thr608=)
c.1751C= (p.Thr584=)
c.1685C= (p.Thr562=)
c.1046C= (p.Thr349=)
c.1664C= (p.Thr555=)
9g.137776748C>GCA375776511EHMT1c.1922C>G (p.Thr641Arg)
c.1808C>G (p.Thr603Arg)
c.1829C>G (p.Thr610Arg)
c.1962C>G (n.1962C>G)
c.1549C>G
c.1091C>G (p.Thr364Arg)
c.*1657C>G (n.*1657C>G)
c.779C>G (p.Thr260Arg)
c.470C>G (p.Thr157Arg)
n.1701G>C
c.1913C>G (p.Thr638Arg)
c.1904C>G (p.Thr635Arg)
c.1931C>G (p.Thr644Arg)
c.1928C>G (p.Thr643Arg)
c.1910C>G (p.Thr637Arg)
c.1853C>G (p.Thr618Arg)
c.1787C>G (p.Thr596Arg)
c.353C>G (p.Thr118Arg)
c.1766C>G (p.Thr589Arg)
c.1901C>G (p.Thr634Arg)
c.1907C>G (p.Thr636Arg)
c.1823C>G (p.Thr608Arg)
c.1751C>G (p.Thr584Arg)
c.1685C>G (p.Thr562Arg)
c.1046C>G (p.Thr349Arg)
c.1664C>G (p.Thr555Arg)
9g.137776748C>TCA375776514EHMT1c.1922C>T (p.Thr641Met)
c.1808C>T (p.Thr603Met)
c.1829C>T (p.Thr610Met)
c.1962C>T (n.1962C>T)
c.1549C>T
c.1091C>T (p.Thr364Met)
c.*1657C>T (n.*1657C>T)
c.779C>T (p.Thr260Met)
c.470C>T (p.Thr157Met)
n.1701G>A
c.1913C>T (p.Thr638Met)
c.1904C>T (p.Thr635Met)
c.1931C>T (p.Thr644Met)
c.1928C>T (p.Thr643Met)
c.1910C>T (p.Thr637Met)
c.1853C>T (p.Thr618Met)
c.1787C>T (p.Thr596Met)
c.353C>T (p.Thr118Met)
c.1766C>T (p.Thr589Met)
c.1901C>T (p.Thr634Met)
c.1907C>T (p.Thr636Met)
c.1823C>T (p.Thr608Met)
c.1751C>T (p.Thr584Met)
c.1685C>T (p.Thr562Met)
c.1046C>T (p.Thr349Met)
c.1664C>T (p.Thr555Met)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9g.137776749delCA2692883472EHMT1c.1923del (p.Ile642Ter)
c.1809del (p.Ile604Ter)
c.1830del (p.Ile611Ter)
c.1963del (n.1963del)
c.1550del
c.1092del (p.Ile365Ter)
c.*1658del (n.*1658del)
c.780del (p.Ile261Ter)
c.471del (p.Ile158Ter)
n.1700del
c.1914del (p.Ile639Ter)
c.1905del (p.Ile636Ter)
c.1932del (p.Ile645Ter)
c.1929del (p.Ile644Ter)
c.1911del (p.Ile638Ter)
c.1854del (p.Ile619Ter)
c.1788del (p.Ile597Ter)
c.354del (p.Ile119Ter)
c.1767del (p.Ile590Ter)
c.1902del (p.Ile635Ter)
c.1908del (p.Ile637Ter)
c.1824del (p.Ile609Ter)
c.1752del (p.Ile585Ter)
c.1686del (p.Ile563Ter)
c.1047del (p.Ile350Ter)
c.1665del (p.Ile556Ter)
 gnomAD v4
9g.137776749G>ACA5374756EHMT1c.1923G>A (p.Thr641=)
c.1809G>A (p.Thr603=)
c.1830G>A (p.Thr610=)
c.1963G>A (n.1963G>A)
c.1550G>A
c.1092G>A (p.Thr364=)
c.*1658G>A (n.*1658G>A)
c.780G>A (p.Thr260=)
c.471G>A (p.Thr157=)
n.1700C>T
c.1914G>A (p.Thr638=)
c.1905G>A (p.Thr635=)
c.1932G>A (p.Thr644=)
c.1929G>A (p.Thr643=)
c.1911G>A (p.Thr637=)
c.1854G>A (p.Thr618=)
c.1788G>A (p.Thr596=)
c.354G>A (p.Thr118=)
c.1767G>A (p.Thr589=)
c.1902G>A (p.Thr634=)
c.1908G>A (p.Thr636=)
c.1824G>A (p.Thr608=)
c.1752G>A (p.Thr584=)
c.1686G>A (p.Thr562=)
c.1047G>A (p.Thr349=)
c.1665G>A (p.Thr555=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776749G>CCA467874102EHMT1c.1923G>C (p.Thr641=)
c.1809G>C (p.Thr603=)
c.1830G>C (p.Thr610=)
c.1963G>C (n.1963G>C)
c.1550G>C
c.1092G>C (p.Thr364=)
c.*1658G>C (n.*1658G>C)
c.780G>C (p.Thr260=)
c.471G>C (p.Thr157=)
n.1700C>G
c.1914G>C (p.Thr638=)
c.1905G>C (p.Thr635=)
c.1932G>C (p.Thr644=)
c.1929G>C (p.Thr643=)
c.1911G>C (p.Thr637=)
c.1854G>C (p.Thr618=)
c.1788G>C (p.Thr596=)
c.354G>C (p.Thr118=)
c.1767G>C (p.Thr589=)
c.1902G>C (p.Thr634=)
c.1908G>C (p.Thr636=)
c.1824G>C (p.Thr608=)
c.1752G>C (p.Thr584=)
c.1686G>C (p.Thr562=)
c.1047G>C (p.Thr349=)
c.1665G>C (p.Thr555=)
 gnomAD v4
9g.137776749G=CA1884666505EHMT1c.1923G= (p.Thr641=)
c.1809G= (p.Thr603=)
c.1830G= (p.Thr610=)
c.1963G= (n.1963G=)
c.1550G=
c.1092G= (p.Thr364=)
c.*1658G= (n.*1658G=)
c.780G= (p.Thr260=)
c.471G= (p.Thr157=)
n.1700C=
c.1914G= (p.Thr638=)
c.1905G= (p.Thr635=)
c.1932G= (p.Thr644=)
c.1929G= (p.Thr643=)
c.1911G= (p.Thr637=)
c.1854G= (p.Thr618=)
c.1788G= (p.Thr596=)
c.354G= (p.Thr118=)
c.1767G= (p.Thr589=)
c.1902G= (p.Thr634=)
c.1908G= (p.Thr636=)
c.1824G= (p.Thr608=)
c.1752G= (p.Thr584=)
c.1686G= (p.Thr562=)
c.1047G= (p.Thr349=)
c.1665G= (p.Thr555=)
9g.137776749G>TCA5374757EHMT1c.1923G>T (p.Thr641=)
c.1809G>T (p.Thr603=)
c.1830G>T (p.Thr610=)
c.1963G>T (n.1963G>T)
c.1550G>T
c.1092G>T (p.Thr364=)
c.*1658G>T (n.*1658G>T)
c.780G>T (p.Thr260=)
c.471G>T (p.Thr157=)
n.1700C>A
c.1914G>T (p.Thr638=)
c.1905G>T (p.Thr635=)
c.1932G>T (p.Thr644=)
c.1929G>T (p.Thr643=)
c.1911G>T (p.Thr637=)
c.1854G>T (p.Thr618=)
c.1788G>T (p.Thr596=)
c.354G>T (p.Thr118=)
c.1767G>T (p.Thr589=)
c.1902G>T (p.Thr634=)
c.1908G>T (p.Thr636=)
c.1824G>T (p.Thr608=)
c.1752G>T (p.Thr584=)
c.1686G>T (p.Thr562=)
c.1047G>T (p.Thr349=)
c.1665G>T (p.Thr555=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137776750A>CCA375776538EHMT1c.1924A>C (p.Ile642Leu)
c.1810A>C (p.Ile604Leu)
c.1831A>C (p.Ile611Leu)
c.1964A>C (n.1964A>C)
c.1551A>C
c.1093A>C (p.Ile365Leu)
c.*1659A>C (n.*1659A>C)
c.781A>C (p.Ile261Leu)
c.472A>C (p.Ile158Leu)
n.1699T>G
c.1915A>C (p.Ile639Leu)
c.1906A>C (p.Ile636Leu)
c.1933A>C (p.Ile645Leu)
c.1930A>C (p.Ile644Leu)
c.1912A>C (p.Ile638Leu)
c.1855A>C (p.Ile619Leu)
c.1789A>C (p.Ile597Leu)
c.355A>C (p.Ile119Leu)
c.1768A>C (p.Ile590Leu)
c.1903A>C (p.Ile635Leu)
c.1909A>C (p.Ile637Leu)
c.1825A>C (p.Ile609Leu)
c.1753A>C (p.Ile585Leu)
c.1687A>C (p.Ile563Leu)
c.1048A>C (p.Ile350Leu)
c.1666A>C (p.Ile556Leu)
9g.137776750A>GCA375776543EHMT1c.1924A>G (p.Ile642Val)
c.1810A>G (p.Ile604Val)
c.1831A>G (p.Ile611Val)
c.1964A>G (n.1964A>G)
c.1551A>G
c.1093A>G (p.Ile365Val)
c.*1659A>G (n.*1659A>G)
c.781A>G (p.Ile261Val)
c.472A>G (p.Ile158Val)
n.1699T>C
c.1915A>G (p.Ile639Val)
c.1906A>G (p.Ile636Val)
c.1933A>G (p.Ile645Val)
c.1930A>G (p.Ile644Val)
c.1912A>G (p.Ile638Val)
c.1855A>G (p.Ile619Val)
c.1789A>G (p.Ile597Val)
c.355A>G (p.Ile119Val)
c.1768A>G (p.Ile590Val)
c.1903A>G (p.Ile635Val)
c.1909A>G (p.Ile637Val)
c.1825A>G (p.Ile609Val)
c.1753A>G (p.Ile585Val)
c.1687A>G (p.Ile563Val)
c.1048A>G (p.Ile350Val)
c.1666A>G (p.Ile556Val)
9g.137776750A>TCA375776548EHMT1c.1924A>T (p.Ile642Leu)
c.1810A>T (p.Ile604Leu)
c.1831A>T (p.Ile611Leu)
c.1964A>T (n.1964A>T)
c.1551A>T
c.1093A>T (p.Ile365Leu)
c.*1659A>T (n.*1659A>T)
c.781A>T (p.Ile261Leu)
c.472A>T (p.Ile158Leu)
n.1699T>A
c.1915A>T (p.Ile639Leu)
c.1906A>T (p.Ile636Leu)
c.1933A>T (p.Ile645Leu)
c.1930A>T (p.Ile644Leu)
c.1912A>T (p.Ile638Leu)
c.1855A>T (p.Ile619Leu)
c.1789A>T (p.Ile597Leu)
c.355A>T (p.Ile119Leu)
c.1768A>T (p.Ile590Leu)
c.1903A>T (p.Ile635Leu)
c.1909A>T (p.Ile637Leu)
c.1825A>T (p.Ile609Leu)
c.1753A>T (p.Ile585Leu)
c.1687A>T (p.Ile563Leu)
c.1048A>T (p.Ile350Leu)
c.1666A>T (p.Ile556Leu)
9g.137776751T>ACA375776552EHMT1c.1925T>A (p.Ile642Lys)
c.1811T>A (p.Ile604Lys)
c.1832T>A (p.Ile611Lys)
c.1965T>A (n.1965T>A)
c.1552T>A
c.1094T>A (p.Ile365Lys)
c.*1660T>A (n.*1660T>A)
c.782T>A (p.Ile261Lys)
c.473T>A (p.Ile158Lys)
n.1698A>T
c.1916T>A (p.Ile639Lys)
c.1907T>A (p.Ile636Lys)
c.1934T>A (p.Ile645Lys)
c.1931T>A (p.Ile644Lys)
c.1913T>A (p.Ile638Lys)
c.1856T>A (p.Ile619Lys)
c.1790T>A (p.Ile597Lys)
c.356T>A (p.Ile119Lys)
c.1769T>A (p.Ile590Lys)
c.1904T>A (p.Ile635Lys)
c.1910T>A (p.Ile637Lys)
c.1826T>A (p.Ile609Lys)
c.1754T>A (p.Ile585Lys)
c.1688T>A (p.Ile563Lys)
c.1049T>A (p.Ile350Lys)
c.1667T>A (p.Ile556Lys)
9g.137776751T>CCA375776560EHMT1c.1925T>C (p.Ile642Thr)
c.1811T>C (p.Ile604Thr)
c.1832T>C (p.Ile611Thr)
c.1965T>C (n.1965T>C)
c.1552T>C
c.1094T>C (p.Ile365Thr)
c.*1660T>C (n.*1660T>C)
c.782T>C (p.Ile261Thr)
c.473T>C (p.Ile158Thr)
n.1698A>G
c.1916T>C (p.Ile639Thr)
c.1907T>C (p.Ile636Thr)
c.1934T>C (p.Ile645Thr)
c.1931T>C (p.Ile644Thr)
c.1913T>C (p.Ile638Thr)
c.1856T>C (p.Ile619Thr)
c.1790T>C (p.Ile597Thr)
c.356T>C (p.Ile119Thr)
c.1769T>C (p.Ile590Thr)
c.1904T>C (p.Ile635Thr)
c.1910T>C (p.Ile637Thr)
c.1826T>C (p.Ile609Thr)
c.1754T>C (p.Ile585Thr)
c.1688T>C (p.Ile563Thr)
c.1049T>C (p.Ile350Thr)
c.1667T>C (p.Ile556Thr)
9g.137776751T>GCA375776558EHMT1c.1925T>G (p.Ile642Arg)
c.1811T>G (p.Ile604Arg)
c.1832T>G (p.Ile611Arg)
c.1965T>G (n.1965T>G)
c.1552T>G
c.1094T>G (p.Ile365Arg)
c.*1660T>G (n.*1660T>G)
c.782T>G (p.Ile261Arg)
c.473T>G (p.Ile158Arg)
n.1698A>C
c.1916T>G (p.Ile639Arg)
c.1907T>G (p.Ile636Arg)
c.1934T>G (p.Ile645Arg)
c.1931T>G (p.Ile644Arg)
c.1913T>G (p.Ile638Arg)
c.1856T>G (p.Ile619Arg)
c.1790T>G (p.Ile597Arg)
c.356T>G (p.Ile119Arg)
c.1769T>G (p.Ile590Arg)
c.1904T>G (p.Ile635Arg)
c.1910T>G (p.Ile637Arg)
c.1826T>G (p.Ile609Arg)
c.1754T>G (p.Ile585Arg)
c.1688T>G (p.Ile563Arg)
c.1049T>G (p.Ile350Arg)
c.1667T>G (p.Ile556Arg)
9g.137776751_137776755delCA2692883473EHMT1c.1925_1929del (p.Ile642LysfsTer?)
c.1811_1815del (p.Ile604LysfsTer?)
c.1832_1836del (p.Ile611LysfsTer?)
c.1965_1969del (n.1965_1969del)
c.1552_1556del
c.1094_1098del (p.Ile365LysfsTer?)
c.*1660_*1664del (n.*1660_*1664del)
c.782_786del (p.Ile261LysfsTer?)
c.473_477del (p.Ile158LysfsTer?)
n.1694_1698del
c.1916_1920del (p.Ile639LysfsTer?)
c.1907_1911del (p.Ile636LysfsTer?)
c.1934_1938del (p.Ile645LysfsTer?)
c.1931_1935del (p.Ile644LysfsTer?)
c.1913_1917del (p.Ile638LysfsTer?)
c.1856_1860del (p.Ile619LysfsTer?)
c.1790_1794del (p.Ile597LysfsTer?)
c.356_360del (p.Ile119LysfsTer?)
c.1769_1773del (p.Ile590LysfsTer?)
c.1904_1908del (p.Ile635LysfsTer?)
c.1910_1914del (p.Ile637LysfsTer?)
c.1826_1830del (p.Ile609LysfsTer?)
c.1754_1758del (p.Ile585LysfsTer?)
c.1688_1692del (p.Ile563LysfsTer?)
c.1049_1053del (p.Ile350LysfsTer?)
c.1667_1671del (p.Ile556LysfsTer?)
 gnomAD v4
9g.137776752A>CCA467874104EHMT1c.1926A>C (p.Ile642=)
c.1812A>C (p.Ile604=)
c.1833A>C (p.Ile611=)
c.1966A>C (n.1966A>C)
c.1553A>C
c.1095A>C (p.Ile365=)
c.*1661A>C (n.*1661A>C)
c.783A>C (p.Ile261=)
c.474A>C (p.Ile158=)
n.1697T>G
c.1917A>C (p.Ile639=)
c.1908A>C (p.Ile636=)
c.1935A>C (p.Ile645=)
c.1932A>C (p.Ile644=)
c.1914A>C (p.Ile638=)
c.1857A>C (p.Ile619=)
c.1791A>C (p.Ile597=)
c.357A>C (p.Ile119=)
c.1770A>C (p.Ile590=)
c.1905A>C (p.Ile635=)
c.1911A>C (p.Ile637=)
c.1827A>C (p.Ile609=)
c.1755A>C (p.Ile585=)
c.1689A>C (p.Ile563=)
c.1050A>C (p.Ile350=)
c.1668A>C (p.Ile556=)
9g.137776752A>GCA375776562EHMT1c.1926A>G (p.Ile642Met)
c.1812A>G (p.Ile604Met)
c.1833A>G (p.Ile611Met)
c.1966A>G (n.1966A>G)
c.1553A>G
c.1095A>G (p.Ile365Met)
c.*1661A>G (n.*1661A>G)
c.783A>G (p.Ile261Met)
c.474A>G (p.Ile158Met)
n.1697T>C
c.1917A>G (p.Ile639Met)
c.1908A>G (p.Ile636Met)
c.1935A>G (p.Ile645Met)
c.1932A>G (p.Ile644Met)
c.1914A>G (p.Ile638Met)
c.1857A>G (p.Ile619Met)
c.1791A>G (p.Ile597Met)
c.357A>G (p.Ile119Met)
c.1770A>G (p.Ile590Met)
c.1905A>G (p.Ile635Met)
c.1911A>G (p.Ile637Met)
c.1827A>G (p.Ile609Met)
c.1755A>G (p.Ile585Met)
c.1689A>G (p.Ile563Met)
c.1050A>G (p.Ile350Met)
c.1668A>G (p.Ile556Met)
 COSMIC COSMIC COSMIC
9g.137776752A>TCA467874103EHMT1c.1926A>T (p.Ile642=)
c.1812A>T (p.Ile604=)
c.1833A>T (p.Ile611=)
c.1966A>T (n.1966A>T)
c.1553A>T
c.1095A>T (p.Ile365=)
c.*1661A>T (n.*1661A>T)
c.783A>T (p.Ile261=)
c.474A>T (p.Ile158=)
n.1697T>A
c.1917A>T (p.Ile639=)
c.1908A>T (p.Ile636=)
c.1935A>T (p.Ile645=)
c.1932A>T (p.Ile644=)
c.1914A>T (p.Ile638=)
c.1857A>T (p.Ile619=)
c.1791A>T (p.Ile597=)
c.357A>T (p.Ile119=)
c.1770A>T (p.Ile590=)
c.1905A>T (p.Ile635=)
c.1911A>T (p.Ile637=)
c.1827A>T (p.Ile609=)
c.1755A>T (p.Ile585=)
c.1689A>T (p.Ile563=)
c.1050A>T (p.Ile350=)
c.1668A>T (p.Ile556=)
9g.137776753G>ACA375776565EHMT1c.1927G>A (p.Ala643Thr)
c.1813G>A (p.Ala605Thr)
c.1834G>A (p.Ala612Thr)
c.1967G>A (n.1967G>A)
c.1554G>A
c.1096G>A (p.Ala366Thr)
c.*1662G>A (n.*1662G>A)
c.784G>A (p.Ala262Thr)
c.475G>A (p.Ala159Thr)
n.1696C>T
c.1918G>A (p.Ala640Thr)
c.1909G>A (p.Ala637Thr)
c.1936G>A (p.Ala646Thr)
c.1933G>A (p.Ala645Thr)
c.1915G>A (p.Ala639Thr)
c.1858G>A (p.Ala620Thr)
c.1792G>A (p.Ala598Thr)
c.358G>A (p.Ala120Thr)
c.1771G>A (p.Ala591Thr)
c.1906G>A (p.Ala636Thr)
c.1912G>A (p.Ala638Thr)
c.1828G>A (p.Ala610Thr)
c.1756G>A (p.Ala586Thr)
c.1690G>A (p.Ala564Thr)
c.1051G>A (p.Ala351Thr)
c.1669G>A (p.Ala557Thr)
9g.137776753G>CCA375776563EHMT1c.1927G>C (p.Ala643Pro)
c.1813G>C (p.Ala605Pro)
c.1834G>C (p.Ala612Pro)
c.1967G>C (n.1967G>C)
c.1554G>C
c.1096G>C (p.Ala366Pro)
c.*1662G>C (n.*1662G>C)
c.784G>C (p.Ala262Pro)
c.475G>C (p.Ala159Pro)
n.1696C>G
c.1918G>C (p.Ala640Pro)
c.1909G>C (p.Ala637Pro)
c.1936G>C (p.Ala646Pro)
c.1933G>C (p.Ala645Pro)
c.1915G>C (p.Ala639Pro)
c.1858G>C (p.Ala620Pro)
c.1792G>C (p.Ala598Pro)
c.358G>C (p.Ala120Pro)
c.1771G>C (p.Ala591Pro)
c.1906G>C (p.Ala636Pro)
c.1912G>C (p.Ala638Pro)
c.1828G>C (p.Ala610Pro)
c.1756G>C (p.Ala586Pro)
c.1690G>C (p.Ala564Pro)
c.1051G>C (p.Ala351Pro)
c.1669G>C (p.Ala557Pro)
9g.137776753G>TCA375776566EHMT1c.1927G>T (p.Ala643Ser)
c.1813G>T (p.Ala605Ser)
c.1834G>T (p.Ala612Ser)
c.1967G>T (n.1967G>T)
c.1554G>T
c.1096G>T (p.Ala366Ser)
c.*1662G>T (n.*1662G>T)
c.784G>T (p.Ala262Ser)
c.475G>T (p.Ala159Ser)
n.1696C>A
c.1918G>T (p.Ala640Ser)
c.1909G>T (p.Ala637Ser)
c.1936G>T (p.Ala646Ser)
c.1933G>T (p.Ala645Ser)
c.1915G>T (p.Ala639Ser)
c.1858G>T (p.Ala620Ser)
c.1792G>T (p.Ala598Ser)
c.358G>T (p.Ala120Ser)
c.1771G>T (p.Ala591Ser)
c.1906G>T (p.Ala636Ser)
c.1912G>T (p.Ala638Ser)
c.1828G>T (p.Ala610Ser)
c.1756G>T (p.Ala586Ser)
c.1690G>T (p.Ala564Ser)
c.1051G>T (p.Ala351Ser)
c.1669G>T (p.Ala557Ser)
9g.137776753_137776756delinsCCTCA2695211855EHMT1c.1927_1930delinsCCT (p.Ala643ProfsTer9)
c.1813_1816delinsCCT (p.Ala605ProfsTer9)
c.1834_1837delinsCCT (p.Ala612ProfsTer9)
c.1967_1970delinsCCT (n.1967_1970delinsCCT)
c.1554_1557delinsCCT
c.1096_1099delinsCCT (p.Ala366ProfsTer9)
c.*1662_*1665delinsCCT (n.*1662_*1665delinsCCT)
c.784_787delinsCCT (p.Ala262ProfsTer9)
c.475_478delinsCCT (p.Ala159ProfsTer9)
n.1693_1696delinsAGG
c.1918_1921delinsCCT (p.Ala640ProfsTer9)
c.1909_1912delinsCCT (p.Ala637ProfsTer9)
c.1936_1939delinsCCT (p.Ala646ProfsTer9)
c.1933_1936delinsCCT (p.Ala645ProfsTer9)
c.1915_1918delinsCCT (p.Ala639ProfsTer9)
c.1858_1861delinsCCT (p.Ala620ProfsTer9)
c.1792_1795delinsCCT (p.Ala598ProfsTer9)
c.358_361delinsCCT (p.Ala120ProfsTer9)
c.1771_1774delinsCCT (p.Ala591ProfsTer9)
c.1906_1909delinsCCT (p.Ala636ProfsTer9)
c.1912_1915delinsCCT (p.Ala638ProfsTer9)
c.1828_1831delinsCCT (p.Ala610ProfsTer9)
c.1756_1759delinsCCT (p.Ala586ProfsTer9)
c.1690_1693delinsCCT (p.Ala564ProfsTer9)
c.1051_1054delinsCCT (p.Ala351ProfsTer9)
c.1669_1672delinsCCT (p.Ala557ProfsTer9)
9g.137776754C>ACA375776569EHMT1c.1928C>A (p.Ala643Asp)
c.1814C>A (p.Ala605Asp)
c.1835C>A (p.Ala612Asp)
c.1968C>A (n.1968C>A)
c.1555C>A
c.1097C>A (p.Ala366Asp)
c.*1663C>A (n.*1663C>A)
c.785C>A (p.Ala262Asp)
c.476C>A (p.Ala159Asp)
n.1695G>T
c.1919C>A (p.Ala640Asp)
c.1910C>A (p.Ala637Asp)
c.1937C>A (p.Ala646Asp)
c.1934C>A (p.Ala645Asp)
c.1916C>A (p.Ala639Asp)
c.1859C>A (p.Ala620Asp)
c.1793C>A (p.Ala598Asp)
c.359C>A (p.Ala120Asp)
c.1772C>A (p.Ala591Asp)
c.1907C>A (p.Ala636Asp)
c.1913C>A (p.Ala638Asp)
c.1829C>A (p.Ala610Asp)
c.1757C>A (p.Ala586Asp)
c.1691C>A (p.Ala564Asp)
c.1052C>A (p.Ala351Asp)
c.1670C>A (p.Ala557Asp)
9g.137776754C>GCA375776575EHMT1c.1928C>G (p.Ala643Gly)
c.1814C>G (p.Ala605Gly)
c.1835C>G (p.Ala612Gly)
c.1968C>G (n.1968C>G)
c.1555C>G
c.1097C>G (p.Ala366Gly)
c.*1663C>G (n.*1663C>G)
c.785C>G (p.Ala262Gly)
c.476C>G (p.Ala159Gly)
n.1695G>C
c.1919C>G (p.Ala640Gly)
c.1910C>G (p.Ala637Gly)
c.1937C>G (p.Ala646Gly)
c.1934C>G (p.Ala645Gly)
c.1916C>G (p.Ala639Gly)
c.1859C>G (p.Ala620Gly)
c.1793C>G (p.Ala598Gly)
c.359C>G (p.Ala120Gly)
c.1772C>G (p.Ala591Gly)
c.1907C>G (p.Ala636Gly)
c.1913C>G (p.Ala638Gly)
c.1829C>G (p.Ala610Gly)
c.1757C>G (p.Ala586Gly)
c.1691C>G (p.Ala564Gly)
c.1052C>G (p.Ala351Gly)
c.1670C>G (p.Ala557Gly)
9g.137776754C>TCA375776572EHMT1c.1928C>T (p.Ala643Val)
c.1814C>T (p.Ala605Val)
c.1835C>T (p.Ala612Val)
c.1968C>T (n.1968C>T)
c.1555C>T
c.1097C>T (p.Ala366Val)
c.*1663C>T (n.*1663C>T)
c.785C>T (p.Ala262Val)
c.476C>T (p.Ala159Val)
n.1695G>A
c.1919C>T (p.Ala640Val)
c.1910C>T (p.Ala637Val)
c.1937C>T (p.Ala646Val)
c.1934C>T (p.Ala645Val)
c.1916C>T (p.Ala639Val)
c.1859C>T (p.Ala620Val)
c.1793C>T (p.Ala598Val)
c.359C>T (p.Ala120Val)
c.1772C>T (p.Ala591Val)
c.1907C>T (p.Ala636Val)
c.1913C>T (p.Ala638Val)
c.1829C>T (p.Ala610Val)
c.1757C>T (p.Ala586Val)
c.1691C>T (p.Ala564Val)
c.1052C>T (p.Ala351Val)
c.1670C>T (p.Ala557Val)
 gnomAD v4
9g.137776755T>ACA467874106EHMT1c.1929T>A (p.Ala643=)
c.1815T>A (p.Ala605=)
c.1836T>A (p.Ala612=)
c.1969T>A (n.1969T>A)
c.1556T>A
c.1098T>A (p.Ala366=)
c.*1664T>A (n.*1664T>A)
c.786T>A (p.Ala262=)
c.477T>A (p.Ala159=)
n.1694A>T
c.1920T>A (p.Ala640=)
c.1911T>A (p.Ala637=)
c.1938T>A (p.Ala646=)
c.1935T>A (p.Ala645=)
c.1917T>A (p.Ala639=)
c.1860T>A (p.Ala620=)
c.1794T>A (p.Ala598=)
c.360T>A (p.Ala120=)
c.1773T>A (p.Ala591=)
c.1908T>A (p.Ala636=)
c.1914T>A (p.Ala638=)
c.1830T>A (p.Ala610=)
c.1758T>A (p.Ala586=)
c.1692T>A (p.Ala564=)
c.1053T>A (p.Ala351=)
c.1671T>A (p.Ala557=)
9g.137776755T>CCA467874107EHMT1c.1929T>C (p.Ala643=)
c.1815T>C (p.Ala605=)
c.1836T>C (p.Ala612=)
c.1969T>C (n.1969T>C)
c.1556T>C
c.1098T>C (p.Ala366=)
c.*1664T>C (n.*1664T>C)
c.786T>C (p.Ala262=)
c.477T>C (p.Ala159=)
n.1694A>G
c.1920T>C (p.Ala640=)
c.1911T>C (p.Ala637=)
c.1938T>C (p.Ala646=)
c.1935T>C (p.Ala645=)
c.1917T>C (p.Ala639=)
c.1860T>C (p.Ala620=)
c.1794T>C (p.Ala598=)
c.360T>C (p.Ala120=)
c.1773T>C (p.Ala591=)
c.1908T>C (p.Ala636=)
c.1914T>C (p.Ala638=)
c.1830T>C (p.Ala610=)
c.1758T>C (p.Ala586=)
c.1692T>C (p.Ala564=)
c.1053T>C (p.Ala351=)
c.1671T>C (p.Ala557=)
 gnomAD v4
9g.137776755T>GCA467874105EHMT1c.1929T>G (p.Ala643=)
c.1815T>G (p.Ala605=)
c.1836T>G (p.Ala612=)
c.1969T>G (n.1969T>G)
c.1556T>G
c.1098T>G (p.Ala366=)
c.*1664T>G (n.*1664T>G)
c.786T>G (p.Ala262=)
c.477T>G (p.Ala159=)
n.1694A>C
c.1920T>G (p.Ala640=)
c.1911T>G (p.Ala637=)
c.1938T>G (p.Ala646=)
c.1935T>G (p.Ala645=)
c.1917T>G (p.Ala639=)
c.1860T>G (p.Ala620=)
c.1794T>G (p.Ala598=)
c.360T>G (p.Ala120=)
c.1773T>G (p.Ala591=)
c.1908T>G (p.Ala636=)
c.1914T>G (p.Ala638=)
c.1830T>G (p.Ala610=)
c.1758T>G (p.Ala586=)
c.1692T>G (p.Ala564=)
c.1053T>G (p.Ala351=)
c.1671T>G (p.Ala557=)
9g.137776756A>CCA375776578EHMT1c.1930A>C (p.Lys644Gln)
c.1816A>C (p.Lys606Gln)
c.1837A>C (p.Lys613Gln)
c.1970A>C (n.1970A>C)
c.1557A>C
c.1099A>C (p.Lys367Gln)
c.*1665A>C (n.*1665A>C)
c.787A>C (p.Lys263Gln)
c.478A>C (p.Lys160Gln)
n.1693T>G
c.1921A>C (p.Lys641Gln)
c.1912A>C (p.Lys638Gln)
c.1939A>C (p.Lys647Gln)
c.1936A>C (p.Lys646Gln)
c.1918A>C (p.Lys640Gln)
c.1861A>C (p.Lys621Gln)
c.1795A>C (p.Lys599Gln)
c.361A>C (p.Lys121Gln)
c.1774A>C (p.Lys592Gln)
c.1909A>C (p.Lys637Gln)
c.1915A>C (p.Lys639Gln)
c.1831A>C (p.Lys611Gln)
c.1759A>C (p.Lys587Gln)
c.1693A>C (p.Lys565Gln)
c.1054A>C (p.Lys352Gln)
c.1672A>C (p.Lys558Gln)
9g.137776756A>GCA375776580EHMT1c.1930A>G (p.Lys644Glu)
c.1816A>G (p.Lys606Glu)
c.1837A>G (p.Lys613Glu)
c.1970A>G (n.1970A>G)
c.1557A>G
c.1099A>G (p.Lys367Glu)
c.*1665A>G (n.*1665A>G)
c.787A>G (p.Lys263Glu)
c.478A>G (p.Lys160Glu)
n.1693T>C
c.1921A>G (p.Lys641Glu)
c.1912A>G (p.Lys638Glu)
c.1939A>G (p.Lys647Glu)
c.1936A>G (p.Lys646Glu)
c.1918A>G (p.Lys640Glu)
c.1861A>G (p.Lys621Glu)
c.1795A>G (p.Lys599Glu)
c.361A>G (p.Lys121Glu)
c.1774A>G (p.Lys592Glu)
c.1909A>G (p.Lys637Glu)
c.1915A>G (p.Lys639Glu)
c.1831A>G (p.Lys611Glu)
c.1759A>G (p.Lys587Glu)
c.1693A>G (p.Lys565Glu)
c.1054A>G (p.Lys352Glu)
c.1672A>G (p.Lys558Glu)
9g.137776756A>TCA375776584EHMT1c.1930A>T (p.Lys644Ter)
c.1816A>T (p.Lys606Ter)
c.1837A>T (p.Lys613Ter)
c.1970A>T (n.1970A>T)
c.1557A>T
c.1099A>T (p.Lys367Ter)
c.*1665A>T (n.*1665A>T)
c.787A>T (p.Lys263Ter)
c.478A>T (p.Lys160Ter)
n.1693T>A
c.1921A>T (p.Lys641Ter)
c.1912A>T (p.Lys638Ter)
c.1939A>T (p.Lys647Ter)
c.1936A>T (p.Lys646Ter)
c.1918A>T (p.Lys640Ter)
c.1861A>T (p.Lys621Ter)
c.1795A>T (p.Lys599Ter)
c.361A>T (p.Lys121Ter)
c.1774A>T (p.Lys592Ter)
c.1909A>T (p.Lys637Ter)
c.1915A>T (p.Lys639Ter)
c.1831A>T (p.Lys611Ter)
c.1759A>T (p.Lys587Ter)
c.1693A>T (p.Lys565Ter)
c.1054A>T (p.Lys352Ter)
c.1672A>T (p.Lys558Ter)
9g.137776757A=CA1884666506EHMT1c.1931A= (p.Lys644=)
c.1817A= (p.Lys606=)
c.1838A= (p.Lys613=)
c.1971A= (n.1971A=)
c.1558A=
c.1100A= (p.Lys367=)
c.*1666A= (n.*1666A=)
c.788A= (p.Lys263=)
c.479A= (p.Lys160=)
n.1692T=
c.1922A= (p.Lys641=)
c.1913A= (p.Lys638=)
c.1940A= (p.Lys647=)
c.1937A= (p.Lys646=)
c.1919A= (p.Lys640=)
c.1862A= (p.Lys621=)
c.1796A= (p.Lys599=)
c.362A= (p.Lys121=)
c.1775A= (p.Lys592=)
c.1910A= (p.Lys637=)
c.1916A= (p.Lys639=)
c.1832A= (p.Lys611=)
c.1760A= (p.Lys587=)
c.1694A= (p.Lys565=)
c.1055A= (p.Lys352=)
c.1673A= (p.Lys558=)
9g.137776757A>CCA5374758EHMT1c.1931A>C (p.Lys644Thr)
c.1817A>C (p.Lys606Thr)
c.1838A>C (p.Lys613Thr)
c.1971A>C (n.1971A>C)
c.1558A>C
c.1100A>C (p.Lys367Thr)
c.*1666A>C (n.*1666A>C)
c.788A>C (p.Lys263Thr)
c.479A>C (p.Lys160Thr)
n.1692T>G
c.1922A>C (p.Lys641Thr)
c.1913A>C (p.Lys638Thr)
c.1940A>C (p.Lys647Thr)
c.1937A>C (p.Lys646Thr)
c.1919A>C (p.Lys640Thr)
c.1862A>C (p.Lys621Thr)
c.1796A>C (p.Lys599Thr)
c.362A>C (p.Lys121Thr)
c.1775A>C (p.Lys592Thr)
c.1910A>C (p.Lys637Thr)
c.1916A>C (p.Lys639Thr)
c.1832A>C (p.Lys611Thr)
c.1760A>C (p.Lys587Thr)
c.1694A>C (p.Lys565Thr)
c.1055A>C (p.Lys352Thr)
c.1673A>C (p.Lys558Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776757A>GCA375776595EHMT1c.1931A>G (p.Lys644Arg)
c.1817A>G (p.Lys606Arg)
c.1838A>G (p.Lys613Arg)
c.1971A>G (n.1971A>G)
c.1558A>G
c.1100A>G (p.Lys367Arg)
c.*1666A>G (n.*1666A>G)
c.788A>G (p.Lys263Arg)
c.479A>G (p.Lys160Arg)
n.1692T>C
c.1922A>G (p.Lys641Arg)
c.1913A>G (p.Lys638Arg)
c.1940A>G (p.Lys647Arg)
c.1937A>G (p.Lys646Arg)
c.1919A>G (p.Lys640Arg)
c.1862A>G (p.Lys621Arg)
c.1796A>G (p.Lys599Arg)
c.362A>G (p.Lys121Arg)
c.1775A>G (p.Lys592Arg)
c.1910A>G (p.Lys637Arg)
c.1916A>G (p.Lys639Arg)
c.1832A>G (p.Lys611Arg)
c.1760A>G (p.Lys587Arg)
c.1694A>G (p.Lys565Arg)
c.1055A>G (p.Lys352Arg)
c.1673A>G (p.Lys558Arg)
 dbSNP
9g.137776757A>TCA375776598EHMT1c.1931A>T (p.Lys644Ile)
c.1817A>T (p.Lys606Ile)
c.1838A>T (p.Lys613Ile)
c.1971A>T (n.1971A>T)
c.1558A>T
c.1100A>T (p.Lys367Ile)
c.*1666A>T (n.*1666A>T)
c.788A>T (p.Lys263Ile)
c.479A>T (p.Lys160Ile)
n.1692T>A
c.1922A>T (p.Lys641Ile)
c.1913A>T (p.Lys638Ile)
c.1940A>T (p.Lys647Ile)
c.1937A>T (p.Lys646Ile)
c.1919A>T (p.Lys640Ile)
c.1862A>T (p.Lys621Ile)
c.1796A>T (p.Lys599Ile)
c.362A>T (p.Lys121Ile)
c.1775A>T (p.Lys592Ile)
c.1910A>T (p.Lys637Ile)
c.1916A>T (p.Lys639Ile)
c.1832A>T (p.Lys611Ile)
c.1760A>T (p.Lys587Ile)
c.1694A>T (p.Lys565Ile)
c.1055A>T (p.Lys352Ile)
c.1673A>T (p.Lys558Ile)
 gnomAD v4
9g.137776758A>CCA375776600EHMT1c.1932A>C (p.Lys644Asn)
c.1818A>C (p.Lys606Asn)
c.1839A>C (p.Lys613Asn)
c.1972A>C (n.1972A>C)
c.1559A>C
c.1101A>C (p.Lys367Asn)
c.*1667A>C (n.*1667A>C)
c.789A>C (p.Lys263Asn)
c.480A>C (p.Lys160Asn)
n.1691T>G
c.1923A>C (p.Lys641Asn)
c.1914A>C (p.Lys638Asn)
c.1941A>C (p.Lys647Asn)
c.1938A>C (p.Lys646Asn)
c.1920A>C (p.Lys640Asn)
c.1863A>C (p.Lys621Asn)
c.1797A>C (p.Lys599Asn)
c.363A>C (p.Lys121Asn)
c.1776A>C (p.Lys592Asn)
c.1911A>C (p.Lys637Asn)
c.1917A>C (p.Lys639Asn)
c.1833A>C (p.Lys611Asn)
c.1761A>C (p.Lys587Asn)
c.1695A>C (p.Lys565Asn)
c.1056A>C (p.Lys352Asn)
c.1674A>C (p.Lys558Asn)
9g.137776758A>GCA467874108EHMT1c.1932A>G (p.Lys644=)
c.1818A>G (p.Lys606=)
c.1839A>G (p.Lys613=)
c.1972A>G (n.1972A>G)
c.1559A>G
c.1101A>G (p.Lys367=)
c.*1667A>G (n.*1667A>G)
c.789A>G (p.Lys263=)
c.480A>G (p.Lys160=)
n.1691T>C
c.1923A>G (p.Lys641=)
c.1914A>G (p.Lys638=)
c.1941A>G (p.Lys647=)
c.1938A>G (p.Lys646=)
c.1920A>G (p.Lys640=)
c.1863A>G (p.Lys621=)
c.1797A>G (p.Lys599=)
c.363A>G (p.Lys121=)
c.1776A>G (p.Lys592=)
c.1911A>G (p.Lys637=)
c.1917A>G (p.Lys639=)
c.1833A>G (p.Lys611=)
c.1761A>G (p.Lys587=)
c.1695A>G (p.Lys565=)
c.1056A>G (p.Lys352=)
c.1674A>G (p.Lys558=)
9g.137776758A>TCA375776603EHMT1c.1932A>T (p.Lys644Asn)
c.1818A>T (p.Lys606Asn)
c.1839A>T (p.Lys613Asn)
c.1972A>T (n.1972A>T)
c.1559A>T
c.1101A>T (p.Lys367Asn)
c.*1667A>T (n.*1667A>T)
c.789A>T (p.Lys263Asn)
c.480A>T (p.Lys160Asn)
n.1691T>A
c.1923A>T (p.Lys641Asn)
c.1914A>T (p.Lys638Asn)
c.1941A>T (p.Lys647Asn)
c.1938A>T (p.Lys646Asn)
c.1920A>T (p.Lys640Asn)
c.1863A>T (p.Lys621Asn)
c.1797A>T (p.Lys599Asn)
c.363A>T (p.Lys121Asn)
c.1776A>T (p.Lys592Asn)
c.1911A>T (p.Lys637Asn)
c.1917A>T (p.Lys639Asn)
c.1833A>T (p.Lys611Asn)
c.1761A>T (p.Lys587Asn)
c.1695A>T (p.Lys565Asn)
c.1056A>T (p.Lys352Asn)
c.1674A>T (p.Lys558Asn)
9g.137776760_137776762delCA2692883474EHMT1c.1934_1936del (p.Ala645del)
c.1820_1822del (p.Ala607del)
c.1841_1843del (p.Ala614del)
c.1974_1976del (n.1974_1976del)
c.1561_1563del
c.1103_1105del (p.Ala368del)
c.*1669_*1671del (n.*1669_*1671del)
c.791_793del (p.Ala264del)
c.482_484del (p.Ala161del)
n.1689_1691del
c.1925_1927del (p.Ala642del)
c.1916_1918del (p.Ala639del)
c.1943_1945del (p.Ala648del)
c.1940_1942del (p.Ala647del)
c.1922_1924del (p.Ala641del)
c.1865_1867del (p.Ala622del)
c.1799_1801del (p.Ala600del)
c.365_367del (p.Ala122del)
c.1778_1780del (p.Ala593del)
c.1913_1915del (p.Ala638del)
c.1919_1921del (p.Ala640del)
c.1835_1837del (p.Ala612del)
c.1763_1765del (p.Ala588del)
c.1697_1699del (p.Ala566del)
c.1058_1060del (p.Ala353del)
c.1676_1678del (p.Ala559del)
 gnomAD v4
9g.137776759G>ACA375776609EHMT1c.1933G>A (p.Ala645Thr)
c.1819G>A (p.Ala607Thr)
c.1840G>A (p.Ala614Thr)
c.1973G>A (n.1973G>A)
c.1560G>A
c.1102G>A (p.Ala368Thr)
c.*1668G>A (n.*1668G>A)
c.790G>A (p.Ala264Thr)
c.481G>A (p.Ala161Thr)
n.1690C>T
c.1924G>A (p.Ala642Thr)
c.1915G>A (p.Ala639Thr)
c.1942G>A (p.Ala648Thr)
c.1939G>A (p.Ala647Thr)
c.1921G>A (p.Ala641Thr)
c.1864G>A (p.Ala622Thr)
c.1798G>A (p.Ala600Thr)
c.364G>A (p.Ala122Thr)
c.1777G>A (p.Ala593Thr)
c.1912G>A (p.Ala638Thr)
c.1918G>A (p.Ala640Thr)
c.1834G>A (p.Ala612Thr)
c.1762G>A (p.Ala588Thr)
c.1696G>A (p.Ala566Thr)
c.1057G>A (p.Ala353Thr)
c.1675G>A (p.Ala559Thr)
9g.137776759G>CCA375776613EHMT1c.1933G>C (p.Ala645Pro)
c.1819G>C (p.Ala607Pro)
c.1840G>C (p.Ala614Pro)
c.1973G>C (n.1973G>C)
c.1560G>C
c.1102G>C (p.Ala368Pro)
c.*1668G>C (n.*1668G>C)
c.790G>C (p.Ala264Pro)
c.481G>C (p.Ala161Pro)
n.1690C>G
c.1924G>C (p.Ala642Pro)
c.1915G>C (p.Ala639Pro)
c.1942G>C (p.Ala648Pro)
c.1939G>C (p.Ala647Pro)
c.1921G>C (p.Ala641Pro)
c.1864G>C (p.Ala622Pro)
c.1798G>C (p.Ala600Pro)
c.364G>C (p.Ala122Pro)
c.1777G>C (p.Ala593Pro)
c.1912G>C (p.Ala638Pro)
c.1918G>C (p.Ala640Pro)
c.1834G>C (p.Ala612Pro)
c.1762G>C (p.Ala588Pro)
c.1696G>C (p.Ala566Pro)
c.1057G>C (p.Ala353Pro)
c.1675G>C (p.Ala559Pro)
9g.137776759G>TCA375776617EHMT1c.1933G>T (p.Ala645Ser)
c.1819G>T (p.Ala607Ser)
c.1840G>T (p.Ala614Ser)
c.1973G>T (n.1973G>T)
c.1560G>T
c.1102G>T (p.Ala368Ser)
c.*1668G>T (n.*1668G>T)
c.790G>T (p.Ala264Ser)
c.481G>T (p.Ala161Ser)
n.1690C>A
c.1924G>T (p.Ala642Ser)
c.1915G>T (p.Ala639Ser)
c.1942G>T (p.Ala648Ser)
c.1939G>T (p.Ala647Ser)
c.1921G>T (p.Ala641Ser)
c.1864G>T (p.Ala622Ser)
c.1798G>T (p.Ala600Ser)
c.364G>T (p.Ala122Ser)
c.1777G>T (p.Ala593Ser)
c.1912G>T (p.Ala638Ser)
c.1918G>T (p.Ala640Ser)
c.1834G>T (p.Ala612Ser)
c.1762G>T (p.Ala588Ser)
c.1696G>T (p.Ala566Ser)
c.1057G>T (p.Ala353Ser)
c.1675G>T (p.Ala559Ser)
9g.137776760C>ACA375776619EHMT1c.1934C>A (p.Ala645Glu)
c.1820C>A (p.Ala607Glu)
c.1841C>A (p.Ala614Glu)
c.1974C>A (n.1974C>A)
c.1561C>A
c.1103C>A (p.Ala368Glu)
c.*1669C>A (n.*1669C>A)
c.791C>A (p.Ala264Glu)
c.482C>A (p.Ala161Glu)
n.1689G>T
c.1925C>A (p.Ala642Glu)
c.1916C>A (p.Ala639Glu)
c.1943C>A (p.Ala648Glu)
c.1940C>A (p.Ala647Glu)
c.1922C>A (p.Ala641Glu)
c.1865C>A (p.Ala622Glu)
c.1799C>A (p.Ala600Glu)
c.365C>A (p.Ala122Glu)
c.1778C>A (p.Ala593Glu)
c.1913C>A (p.Ala638Glu)
c.1919C>A (p.Ala640Glu)
c.1835C>A (p.Ala612Glu)
c.1763C>A (p.Ala588Glu)
c.1697C>A (p.Ala566Glu)
c.1058C>A (p.Ala353Glu)
c.1676C>A (p.Ala559Glu)
9g.137776760C>GCA375776620EHMT1c.1934C>G (p.Ala645Gly)
c.1820C>G (p.Ala607Gly)
c.1841C>G (p.Ala614Gly)
c.1974C>G (n.1974C>G)
c.1561C>G
c.1103C>G (p.Ala368Gly)
c.*1669C>G (n.*1669C>G)
c.791C>G (p.Ala264Gly)
c.482C>G (p.Ala161Gly)
n.1689G>C
c.1925C>G (p.Ala642Gly)
c.1916C>G (p.Ala639Gly)
c.1943C>G (p.Ala648Gly)
c.1940C>G (p.Ala647Gly)
c.1922C>G (p.Ala641Gly)
c.1865C>G (p.Ala622Gly)
c.1799C>G (p.Ala600Gly)
c.365C>G (p.Ala122Gly)
c.1778C>G (p.Ala593Gly)
c.1913C>G (p.Ala638Gly)
c.1919C>G (p.Ala640Gly)
c.1835C>G (p.Ala612Gly)
c.1763C>G (p.Ala588Gly)
c.1697C>G (p.Ala566Gly)
c.1058C>G (p.Ala353Gly)
c.1676C>G (p.Ala559Gly)
9g.137776760C>TCA375776622EHMT1c.1934C>T (p.Ala645Val)
c.1820C>T (p.Ala607Val)
c.1841C>T (p.Ala614Val)
c.1974C>T (n.1974C>T)
c.1561C>T
c.1103C>T (p.Ala368Val)
c.*1669C>T (n.*1669C>T)
c.791C>T (p.Ala264Val)
c.482C>T (p.Ala161Val)
n.1689G>A
c.1925C>T (p.Ala642Val)
c.1916C>T (p.Ala639Val)
c.1943C>T (p.Ala648Val)
c.1940C>T (p.Ala647Val)
c.1922C>T (p.Ala641Val)
c.1865C>T (p.Ala622Val)
c.1799C>T (p.Ala600Val)
c.365C>T (p.Ala122Val)
c.1778C>T (p.Ala593Val)
c.1913C>T (p.Ala638Val)
c.1919C>T (p.Ala640Val)
c.1835C>T (p.Ala612Val)
c.1763C>T (p.Ala588Val)
c.1697C>T (p.Ala566Val)
c.1058C>T (p.Ala353Val)
c.1676C>T (p.Ala559Val)
9g.137776761A>CCA467874111EHMT1c.1935A>C (p.Ala645=)
c.1821A>C (p.Ala607=)
c.1842A>C (p.Ala614=)
c.1975A>C (n.1975A>C)
c.1562A>C
c.1104A>C (p.Ala368=)
c.*1670A>C (n.*1670A>C)
c.792A>C (p.Ala264=)
c.483A>C (p.Ala161=)
n.1688T>G
c.1926A>C (p.Ala642=)
c.1917A>C (p.Ala639=)
c.1944A>C (p.Ala648=)
c.1941A>C (p.Ala647=)
c.1923A>C (p.Ala641=)
c.1866A>C (p.Ala622=)
c.1800A>C (p.Ala600=)
c.366A>C (p.Ala122=)
c.1779A>C (p.Ala593=)
c.1914A>C (p.Ala638=)
c.1920A>C (p.Ala640=)
c.1836A>C (p.Ala612=)
c.1764A>C (p.Ala588=)
c.1698A>C (p.Ala566=)
c.1059A>C (p.Ala353=)
c.1677A>C (p.Ala559=)
9g.137776761A>GCA467874109EHMT1c.1935A>G (p.Ala645=)
c.1821A>G (p.Ala607=)
c.1842A>G (p.Ala614=)
c.1975A>G (n.1975A>G)
c.1562A>G
c.1104A>G (p.Ala368=)
c.*1670A>G (n.*1670A>G)
c.792A>G (p.Ala264=)
c.483A>G (p.Ala161=)
n.1688T>C
c.1926A>G (p.Ala642=)
c.1917A>G (p.Ala639=)
c.1944A>G (p.Ala648=)
c.1941A>G (p.Ala647=)
c.1923A>G (p.Ala641=)
c.1866A>G (p.Ala622=)
c.1800A>G (p.Ala600=)
c.366A>G (p.Ala122=)
c.1779A>G (p.Ala593=)
c.1914A>G (p.Ala638=)
c.1920A>G (p.Ala640=)
c.1836A>G (p.Ala612=)
c.1764A>G (p.Ala588=)
c.1698A>G (p.Ala566=)
c.1059A>G (p.Ala353=)
c.1677A>G (p.Ala559=)
9g.137776761A>TCA467874110EHMT1c.1935A>T (p.Ala645=)
c.1821A>T (p.Ala607=)
c.1842A>T (p.Ala614=)
c.1975A>T (n.1975A>T)
c.1562A>T
c.1104A>T (p.Ala368=)
c.*1670A>T (n.*1670A>T)
c.792A>T (p.Ala264=)
c.483A>T (p.Ala161=)
n.1688T>A
c.1926A>T (p.Ala642=)
c.1917A>T (p.Ala639=)
c.1944A>T (p.Ala648=)
c.1941A>T (p.Ala647=)
c.1923A>T (p.Ala641=)
c.1866A>T (p.Ala622=)
c.1800A>T (p.Ala600=)
c.366A>T (p.Ala122=)
c.1779A>T (p.Ala593=)
c.1914A>T (p.Ala638=)
c.1920A>T (p.Ala640=)
c.1836A>T (p.Ala612=)
c.1764A>T (p.Ala588=)
c.1698A>T (p.Ala566=)
c.1059A>T (p.Ala353=)
c.1677A>T (p.Ala559=)
9g.137776762G>ACA375776631EHMT1c.1936G>A (p.Asp646Asn)
c.1822G>A (p.Asp608Asn)
c.1843G>A (p.Asp615Asn)
c.1976G>A (n.1976G>A)
c.1563G>A
c.1105G>A (p.Asp369Asn)
c.*1671G>A (n.*1671G>A)
c.793G>A (p.Asp265Asn)
c.484G>A (p.Asp162Asn)
n.1687C>T
c.1927G>A (p.Asp643Asn)
c.1918G>A (p.Asp640Asn)
c.1945G>A (p.Asp649Asn)
c.1942G>A (p.Asp648Asn)
c.1924G>A (p.Asp642Asn)
c.1867G>A (p.Asp623Asn)
c.1801G>A (p.Asp601Asn)
c.367G>A (p.Asp123Asn)
c.1780G>A (p.Asp594Asn)
c.1915G>A (p.Asp639Asn)
c.1921G>A (p.Asp641Asn)
c.1837G>A (p.Asp613Asn)
c.1765G>A (p.Asp589Asn)
c.1699G>A (p.Asp567Asn)
c.1060G>A (p.Asp354Asn)
c.1678G>A (p.Asp560Asn)
9g.137776762G>CCA375776629EHMT1c.1936G>C (p.Asp646His)
c.1822G>C (p.Asp608His)
c.1843G>C (p.Asp615His)
c.1976G>C (n.1976G>C)
c.1563G>C
c.1105G>C (p.Asp369His)
c.*1671G>C (n.*1671G>C)
c.793G>C (p.Asp265His)
c.484G>C (p.Asp162His)
n.1687C>G
c.1927G>C (p.Asp643His)
c.1918G>C (p.Asp640His)
c.1945G>C (p.Asp649His)
c.1942G>C (p.Asp648His)
c.1924G>C (p.Asp642His)
c.1867G>C (p.Asp623His)
c.1801G>C (p.Asp601His)
c.367G>C (p.Asp123His)
c.1780G>C (p.Asp594His)
c.1915G>C (p.Asp639His)
c.1921G>C (p.Asp641His)
c.1837G>C (p.Asp613His)
c.1765G>C (p.Asp589His)
c.1699G>C (p.Asp567His)
c.1060G>C (p.Asp354His)
c.1678G>C (p.Asp560His)
9g.137776762G>TCA375776625EHMT1c.1936G>T (p.Asp646Tyr)
c.1822G>T (p.Asp608Tyr)
c.1843G>T (p.Asp615Tyr)
c.1976G>T (n.1976G>T)
c.1563G>T
c.1105G>T (p.Asp369Tyr)
c.*1671G>T (n.*1671G>T)
c.793G>T (p.Asp265Tyr)
c.484G>T (p.Asp162Tyr)
n.1687C>A
c.1927G>T (p.Asp643Tyr)
c.1918G>T (p.Asp640Tyr)
c.1945G>T (p.Asp649Tyr)
c.1942G>T (p.Asp648Tyr)
c.1924G>T (p.Asp642Tyr)
c.1867G>T (p.Asp623Tyr)
c.1801G>T (p.Asp601Tyr)
c.367G>T (p.Asp123Tyr)
c.1780G>T (p.Asp594Tyr)
c.1915G>T (p.Asp639Tyr)
c.1921G>T (p.Asp641Tyr)
c.1837G>T (p.Asp613Tyr)
c.1765G>T (p.Asp589Tyr)
c.1699G>T (p.Asp567Tyr)
c.1060G>T (p.Asp354Tyr)
c.1678G>T (p.Asp560Tyr)
9g.137776763A>CCA375776639EHMT1c.1937A>C (p.Asp646Ala)
c.1823A>C (p.Asp608Ala)
c.1844A>C (p.Asp615Ala)
c.1977A>C (n.1977A>C)
c.1564A>C
c.1106A>C (p.Asp369Ala)
c.*1672A>C (n.*1672A>C)
c.794A>C (p.Asp265Ala)
c.485A>C (p.Asp162Ala)
n.1686T>G
c.1928A>C (p.Asp643Ala)
c.1919A>C (p.Asp640Ala)
c.1946A>C (p.Asp649Ala)
c.1943A>C (p.Asp648Ala)
c.1925A>C (p.Asp642Ala)
c.1868A>C (p.Asp623Ala)
c.1802A>C (p.Asp601Ala)
c.368A>C (p.Asp123Ala)
c.1781A>C (p.Asp594Ala)
c.1916A>C (p.Asp639Ala)
c.1922A>C (p.Asp641Ala)
c.1838A>C (p.Asp613Ala)
c.1766A>C (p.Asp589Ala)
c.1700A>C (p.Asp567Ala)
c.1061A>C (p.Asp354Ala)
c.1679A>C (p.Asp560Ala)
9g.137776763A>GCA375776647EHMT1c.1937A>G (p.Asp646Gly)
c.1823A>G (p.Asp608Gly)
c.1844A>G (p.Asp615Gly)
c.1977A>G (n.1977A>G)
c.1564A>G
c.1106A>G (p.Asp369Gly)
c.*1672A>G (n.*1672A>G)
c.794A>G (p.Asp265Gly)
c.485A>G (p.Asp162Gly)
n.1686T>C
c.1928A>G (p.Asp643Gly)
c.1919A>G (p.Asp640Gly)
c.1946A>G (p.Asp649Gly)
c.1943A>G (p.Asp648Gly)
c.1925A>G (p.Asp642Gly)
c.1868A>G (p.Asp623Gly)
c.1802A>G (p.Asp601Gly)
c.368A>G (p.Asp123Gly)
c.1781A>G (p.Asp594Gly)
c.1916A>G (p.Asp639Gly)
c.1922A>G (p.Asp641Gly)
c.1838A>G (p.Asp613Gly)
c.1766A>G (p.Asp589Gly)
c.1700A>G (p.Asp567Gly)
c.1061A>G (p.Asp354Gly)
c.1679A>G (p.Asp560Gly)
9g.137776763A>TCA375776654EHMT1c.1937A>T (p.Asp646Val)
c.1823A>T (p.Asp608Val)
c.1844A>T (p.Asp615Val)
c.1977A>T (n.1977A>T)
c.1564A>T
c.1106A>T (p.Asp369Val)
c.*1672A>T (n.*1672A>T)
c.794A>T (p.Asp265Val)
c.485A>T (p.Asp162Val)
n.1686T>A
c.1928A>T (p.Asp643Val)
c.1919A>T (p.Asp640Val)
c.1946A>T (p.Asp649Val)
c.1943A>T (p.Asp648Val)
c.1925A>T (p.Asp642Val)
c.1868A>T (p.Asp623Val)
c.1802A>T (p.Asp601Val)
c.368A>T (p.Asp123Val)
c.1781A>T (p.Asp594Val)
c.1916A>T (p.Asp639Val)
c.1922A>T (p.Asp641Val)
c.1838A>T (p.Asp613Val)
c.1766A>T (p.Asp589Val)
c.1700A>T (p.Asp567Val)
c.1061A>T (p.Asp354Val)
c.1679A>T (p.Asp560Val)
9g.137776764C>ACA375776656EHMT1c.1938C>A (p.Asp646Glu)
c.1824C>A (p.Asp608Glu)
c.1845C>A (p.Asp615Glu)
c.1978C>A (n.1978C>A)
c.1565C>A
c.1107C>A (p.Asp369Glu)
c.*1673C>A (n.*1673C>A)
c.795C>A (p.Asp265Glu)
c.486C>A (p.Asp162Glu)
n.1685G>T
c.1929C>A (p.Asp643Glu)
c.1920C>A (p.Asp640Glu)
c.1947C>A (p.Asp649Glu)
c.1944C>A (p.Asp648Glu)
c.1926C>A (p.Asp642Glu)
c.1869C>A (p.Asp623Glu)
c.1803C>A (p.Asp601Glu)
c.369C>A (p.Asp123Glu)
c.1782C>A (p.Asp594Glu)
c.1917C>A (p.Asp639Glu)
c.1923C>A (p.Asp641Glu)
c.1839C>A (p.Asp613Glu)
c.1767C>A (p.Asp589Glu)
c.1701C>A (p.Asp567Glu)
c.1062C>A (p.Asp354Glu)
c.1680C>A (p.Asp560Glu)
9g.137776764C>GCA375776659EHMT1c.1938C>G (p.Asp646Glu)
c.1824C>G (p.Asp608Glu)
c.1845C>G (p.Asp615Glu)
c.1978C>G (n.1978C>G)
c.1565C>G
c.1107C>G (p.Asp369Glu)
c.*1673C>G (n.*1673C>G)
c.795C>G (p.Asp265Glu)
c.486C>G (p.Asp162Glu)
n.1685G>C
c.1929C>G (p.Asp643Glu)
c.1920C>G (p.Asp640Glu)
c.1947C>G (p.Asp649Glu)
c.1944C>G (p.Asp648Glu)
c.1926C>G (p.Asp642Glu)
c.1869C>G (p.Asp623Glu)
c.1803C>G (p.Asp601Glu)
c.369C>G (p.Asp123Glu)
c.1782C>G (p.Asp594Glu)
c.1917C>G (p.Asp639Glu)
c.1923C>G (p.Asp641Glu)
c.1839C>G (p.Asp613Glu)
c.1767C>G (p.Asp589Glu)
c.1701C>G (p.Asp567Glu)
c.1062C>G (p.Asp354Glu)
c.1680C>G (p.Asp560Glu)
9g.137776764C>TCA467874112EHMT1c.1938C>T (p.Asp646=)
c.1824C>T (p.Asp608=)
c.1845C>T (p.Asp615=)
c.1978C>T (n.1978C>T)
c.1565C>T
c.1107C>T (p.Asp369=)
c.*1673C>T (n.*1673C>T)
c.795C>T (p.Asp265=)
c.486C>T (p.Asp162=)
n.1685G>A
c.1929C>T (p.Asp643=)
c.1920C>T (p.Asp640=)
c.1947C>T (p.Asp649=)
c.1944C>T (p.Asp648=)
c.1926C>T (p.Asp642=)
c.1869C>T (p.Asp623=)
c.1803C>T (p.Asp601=)
c.369C>T (p.Asp123=)
c.1782C>T (p.Asp594=)
c.1917C>T (p.Asp639=)
c.1923C>T (p.Asp641=)
c.1839C>T (p.Asp613=)
c.1767C>T (p.Asp589=)
c.1701C>T (p.Asp567=)
c.1062C>T (p.Asp354=)
c.1680C>T (p.Asp560=)
 gnomAD v4
9g.137776765A>CCA375776661EHMT1c.1939A>C (p.Thr647Pro)
c.1825A>C (p.Thr609Pro)
c.1846A>C (p.Thr616Pro)
c.1979A>C (n.1979A>C)
c.1566A>C
c.1108A>C (p.Thr370Pro)
c.*1674A>C (n.*1674A>C)
c.796A>C (p.Thr266Pro)
c.487A>C (p.Thr163Pro)
n.1684T>G
c.1930A>C (p.Thr644Pro)
c.1921A>C (p.Thr641Pro)
c.1948A>C (p.Thr650Pro)
c.1945A>C (p.Thr649Pro)
c.1927A>C (p.Thr643Pro)
c.1870A>C (p.Thr624Pro)
c.1804A>C (p.Thr602Pro)
c.370A>C (p.Thr124Pro)
c.1783A>C (p.Thr595Pro)
c.1918A>C (p.Thr640Pro)
c.1924A>C (p.Thr642Pro)
c.1840A>C (p.Thr614Pro)
c.1768A>C (p.Thr590Pro)
c.1702A>C (p.Thr568Pro)
c.1063A>C (p.Thr355Pro)
c.1681A>C (p.Thr561Pro)
9g.137776765A>GCA375776662EHMT1c.1939A>G (p.Thr647Ala)
c.1825A>G (p.Thr609Ala)
c.1846A>G (p.Thr616Ala)
c.1979A>G (n.1979A>G)
c.1566A>G
c.1108A>G (p.Thr370Ala)
c.*1674A>G (n.*1674A>G)
c.796A>G (p.Thr266Ala)
c.487A>G (p.Thr163Ala)
n.1684T>C
c.1930A>G (p.Thr644Ala)
c.1921A>G (p.Thr641Ala)
c.1948A>G (p.Thr650Ala)
c.1945A>G (p.Thr649Ala)
c.1927A>G (p.Thr643Ala)
c.1870A>G (p.Thr624Ala)
c.1804A>G (p.Thr602Ala)
c.370A>G (p.Thr124Ala)
c.1783A>G (p.Thr595Ala)
c.1918A>G (p.Thr640Ala)
c.1924A>G (p.Thr642Ala)
c.1840A>G (p.Thr614Ala)
c.1768A>G (p.Thr590Ala)
c.1702A>G (p.Thr568Ala)
c.1063A>G (p.Thr355Ala)
c.1681A>G (p.Thr561Ala)
9g.137776765A>TCA375776665EHMT1c.1939A>T (p.Thr647Ser)
c.1825A>T (p.Thr609Ser)
c.1846A>T (p.Thr616Ser)
c.1979A>T (n.1979A>T)
c.1566A>T
c.1108A>T (p.Thr370Ser)
c.*1674A>T (n.*1674A>T)
c.796A>T (p.Thr266Ser)
c.487A>T (p.Thr163Ser)
n.1684T>A
c.1930A>T (p.Thr644Ser)
c.1921A>T (p.Thr641Ser)
c.1948A>T (p.Thr650Ser)
c.1945A>T (p.Thr649Ser)
c.1927A>T (p.Thr643Ser)
c.1870A>T (p.Thr624Ser)
c.1804A>T (p.Thr602Ser)
c.370A>T (p.Thr124Ser)
c.1783A>T (p.Thr595Ser)
c.1918A>T (p.Thr640Ser)
c.1924A>T (p.Thr642Ser)
c.1840A>T (p.Thr614Ser)
c.1768A>T (p.Thr590Ser)
c.1702A>T (p.Thr568Ser)
c.1063A>T (p.Thr355Ser)
c.1681A>T (p.Thr561Ser)
9g.137776766C>ACA375776669EHMT1c.1940C>A (p.Thr647Asn)
c.1826C>A (p.Thr609Asn)
c.1847C>A (p.Thr616Asn)
c.1980C>A (n.1980C>A)
c.1567C>A
c.1109C>A (p.Thr370Asn)
c.*1675C>A (n.*1675C>A)
c.797C>A (p.Thr266Asn)
c.488C>A (p.Thr163Asn)
n.1683G>T
c.1931C>A (p.Thr644Asn)
c.1922C>A (p.Thr641Asn)
c.1949C>A (p.Thr650Asn)
c.1946C>A (p.Thr649Asn)
c.1928C>A (p.Thr643Asn)
c.1871C>A (p.Thr624Asn)
c.1805C>A (p.Thr602Asn)
c.371C>A (p.Thr124Asn)
c.1784C>A (p.Thr595Asn)
c.1919C>A (p.Thr640Asn)
c.1925C>A (p.Thr642Asn)
c.1841C>A (p.Thr614Asn)
c.1769C>A (p.Thr590Asn)
c.1703C>A (p.Thr568Asn)
c.1064C>A (p.Thr355Asn)
c.1682C>A (p.Thr561Asn)
9g.137776766C>GCA375776673EHMT1c.1940C>G (p.Thr647Ser)
c.1826C>G (p.Thr609Ser)
c.1847C>G (p.Thr616Ser)
c.1980C>G (n.1980C>G)
c.1567C>G
c.1109C>G (p.Thr370Ser)
c.*1675C>G (n.*1675C>G)
c.797C>G (p.Thr266Ser)
c.488C>G (p.Thr163Ser)
n.1683G>C
c.1931C>G (p.Thr644Ser)
c.1922C>G (p.Thr641Ser)
c.1949C>G (p.Thr650Ser)
c.1946C>G (p.Thr649Ser)
c.1928C>G (p.Thr643Ser)
c.1871C>G (p.Thr624Ser)
c.1805C>G (p.Thr602Ser)
c.371C>G (p.Thr124Ser)
c.1784C>G (p.Thr595Ser)
c.1919C>G (p.Thr640Ser)
c.1925C>G (p.Thr642Ser)
c.1841C>G (p.Thr614Ser)
c.1769C>G (p.Thr590Ser)
c.1703C>G (p.Thr568Ser)
c.1064C>G (p.Thr355Ser)
c.1682C>G (p.Thr561Ser)
9g.137776766C>TCA375776674EHMT1c.1940C>T (p.Thr647Ile)
c.1826C>T (p.Thr609Ile)
c.1847C>T (p.Thr616Ile)
c.1980C>T (n.1980C>T)
c.1567C>T
c.1109C>T (p.Thr370Ile)
c.*1675C>T (n.*1675C>T)
c.797C>T (p.Thr266Ile)
c.488C>T (p.Thr163Ile)
n.1683G>A
c.1931C>T (p.Thr644Ile)
c.1922C>T (p.Thr641Ile)
c.1949C>T (p.Thr650Ile)
c.1946C>T (p.Thr649Ile)
c.1928C>T (p.Thr643Ile)
c.1871C>T (p.Thr624Ile)
c.1805C>T (p.Thr602Ile)
c.371C>T (p.Thr124Ile)
c.1784C>T (p.Thr595Ile)
c.1919C>T (p.Thr640Ile)
c.1925C>T (p.Thr642Ile)
c.1841C>T (p.Thr614Ile)
c.1769C>T (p.Thr590Ile)
c.1703C>T (p.Thr568Ile)
c.1064C>T (p.Thr355Ile)
c.1682C>T (p.Thr561Ile)
9g.137776767C>ACA467874113EHMT1c.1941C>A (p.Thr647=)
c.1827C>A (p.Thr609=)
c.1848C>A (p.Thr616=)
c.1981C>A (n.1981C>A)
c.1568C>A
c.1110C>A (p.Thr370=)
c.*1676C>A (n.*1676C>A)
c.798C>A (p.Thr266=)
c.489C>A (p.Thr163=)
n.1682G>T
c.1932C>A (p.Thr644=)
c.1923C>A (p.Thr641=)
c.1950C>A (p.Thr650=)
c.1947C>A (p.Thr649=)
c.1929C>A (p.Thr643=)
c.1872C>A (p.Thr624=)
c.1806C>A (p.Thr602=)
c.372C>A (p.Thr124=)
c.1785C>A (p.Thr595=)
c.1920C>A (p.Thr640=)
c.1926C>A (p.Thr642=)
c.1842C>A (p.Thr614=)
c.1770C>A (p.Thr590=)
c.1704C>A (p.Thr568=)
c.1065C>A (p.Thr355=)
c.1683C>A (p.Thr561=)
9g.137776767C>GCA467874114EHMT1c.1941C>G (p.Thr647=)
c.1827C>G (p.Thr609=)
c.1848C>G (p.Thr616=)
c.1981C>G (n.1981C>G)
c.1568C>G
c.1110C>G (p.Thr370=)
c.*1676C>G (n.*1676C>G)
c.798C>G (p.Thr266=)
c.489C>G (p.Thr163=)
n.1682G>C
c.1932C>G (p.Thr644=)
c.1923C>G (p.Thr641=)
c.1950C>G (p.Thr650=)
c.1947C>G (p.Thr649=)
c.1929C>G (p.Thr643=)
c.1872C>G (p.Thr624=)
c.1806C>G (p.Thr602=)
c.372C>G (p.Thr124=)
c.1785C>G (p.Thr595=)
c.1920C>G (p.Thr640=)
c.1926C>G (p.Thr642=)
c.1842C>G (p.Thr614=)
c.1770C>G (p.Thr590=)
c.1704C>G (p.Thr568=)
c.1065C>G (p.Thr355=)
c.1683C>G (p.Thr561=)
9g.137776767C>TCA467874115EHMT1c.1941C>T (p.Thr647=)
c.1827C>T (p.Thr609=)
c.1848C>T (p.Thr616=)
c.1981C>T (n.1981C>T)
c.1568C>T
c.1110C>T (p.Thr370=)
c.*1676C>T (n.*1676C>T)
c.798C>T (p.Thr266=)
c.489C>T (p.Thr163=)
n.1682G>A
c.1932C>T (p.Thr644=)
c.1923C>T (p.Thr641=)
c.1950C>T (p.Thr650=)
c.1947C>T (p.Thr649=)
c.1929C>T (p.Thr643=)
c.1872C>T (p.Thr624=)
c.1806C>T (p.Thr602=)
c.372C>T (p.Thr124=)
c.1785C>T (p.Thr595=)
c.1920C>T (p.Thr640=)
c.1926C>T (p.Thr642=)
c.1842C>T (p.Thr614=)
c.1770C>T (p.Thr590=)
c.1704C>T (p.Thr568=)
c.1065C>T (p.Thr355=)
c.1683C>T (p.Thr561=)
 COSMIC
9g.137776768A>CCA375776677EHMT1c.1942A>C (p.Thr648Pro)
c.1828A>C (p.Thr610Pro)
c.1849A>C (p.Thr617Pro)
c.1982A>C (n.1982A>C)
c.1569A>C
c.1111A>C (p.Thr371Pro)
c.*1677A>C (n.*1677A>C)
c.799A>C (p.Thr267Pro)
c.490A>C (p.Thr164Pro)
n.1681T>G
c.1933A>C (p.Thr645Pro)
c.1924A>C (p.Thr642Pro)
c.1951A>C (p.Thr651Pro)
c.1948A>C (p.Thr650Pro)
c.1930A>C (p.Thr644Pro)
c.1873A>C (p.Thr625Pro)
c.1807A>C (p.Thr603Pro)
c.373A>C (p.Thr125Pro)
c.1786A>C (p.Thr596Pro)
c.1921A>C (p.Thr641Pro)
c.1927A>C (p.Thr643Pro)
c.1843A>C (p.Thr615Pro)
c.1771A>C (p.Thr591Pro)
c.1705A>C (p.Thr569Pro)
c.1066A>C (p.Thr356Pro)
c.1684A>C (p.Thr562Pro)
9g.137776768A>GCA375776680EHMT1c.1942A>G (p.Thr648Ala)
c.1828A>G (p.Thr610Ala)
c.1849A>G (p.Thr617Ala)
c.1982A>G (n.1982A>G)
c.1569A>G
c.1111A>G (p.Thr371Ala)
c.*1677A>G (n.*1677A>G)
c.799A>G (p.Thr267Ala)
c.490A>G (p.Thr164Ala)
n.1681T>C
c.1933A>G (p.Thr645Ala)
c.1924A>G (p.Thr642Ala)
c.1951A>G (p.Thr651Ala)
c.1948A>G (p.Thr650Ala)
c.1930A>G (p.Thr644Ala)
c.1873A>G (p.Thr625Ala)
c.1807A>G (p.Thr603Ala)
c.373A>G (p.Thr125Ala)
c.1786A>G (p.Thr596Ala)
c.1921A>G (p.Thr641Ala)
c.1927A>G (p.Thr643Ala)
c.1843A>G (p.Thr615Ala)
c.1771A>G (p.Thr591Ala)
c.1705A>G (p.Thr569Ala)
c.1066A>G (p.Thr356Ala)
c.1684A>G (p.Thr562Ala)
9g.137776768A>TCA375776683EHMT1c.1942A>T (p.Thr648Ser)
c.1828A>T (p.Thr610Ser)
c.1849A>T (p.Thr617Ser)
c.1982A>T (n.1982A>T)
c.1569A>T
c.1111A>T (p.Thr371Ser)
c.*1677A>T (n.*1677A>T)
c.799A>T (p.Thr267Ser)
c.490A>T (p.Thr164Ser)
n.1681T>A
c.1933A>T (p.Thr645Ser)
c.1924A>T (p.Thr642Ser)
c.1951A>T (p.Thr651Ser)
c.1948A>T (p.Thr650Ser)
c.1930A>T (p.Thr644Ser)
c.1873A>T (p.Thr625Ser)
c.1807A>T (p.Thr603Ser)
c.373A>T (p.Thr125Ser)
c.1786A>T (p.Thr596Ser)
c.1921A>T (p.Thr641Ser)
c.1927A>T (p.Thr643Ser)
c.1843A>T (p.Thr615Ser)
c.1771A>T (p.Thr591Ser)
c.1705A>T (p.Thr569Ser)
c.1066A>T (p.Thr356Ser)
c.1684A>T (p.Thr562Ser)
9g.137776769C>ACA375776687EHMT1c.1943C>A (p.Thr648Asn)
c.1829C>A (p.Thr610Asn)
c.1850C>A (p.Thr617Asn)
c.1983C>A (n.1983C>A)
c.1570C>A
c.1112C>A (p.Thr371Asn)
c.*1678C>A (n.*1678C>A)
c.800C>A (p.Thr267Asn)
c.491C>A (p.Thr164Asn)
n.1680G>T
c.1934C>A (p.Thr645Asn)
c.1925C>A (p.Thr642Asn)
c.1952C>A (p.Thr651Asn)
c.1949C>A (p.Thr650Asn)
c.1931C>A (p.Thr644Asn)
c.1874C>A (p.Thr625Asn)
c.1808C>A (p.Thr603Asn)
c.374C>A (p.Thr125Asn)
c.1787C>A (p.Thr596Asn)
c.1922C>A (p.Thr641Asn)
c.1928C>A (p.Thr643Asn)
c.1844C>A (p.Thr615Asn)
c.1772C>A (p.Thr591Asn)
c.1706C>A (p.Thr569Asn)
c.1067C>A (p.Thr356Asn)
c.1685C>A (p.Thr562Asn)
9g.137776769C>GCA375776688EHMT1c.1943C>G (p.Thr648Ser)
c.1829C>G (p.Thr610Ser)
c.1850C>G (p.Thr617Ser)
c.1983C>G (n.1983C>G)
c.1570C>G
c.1112C>G (p.Thr371Ser)
c.*1678C>G (n.*1678C>G)
c.800C>G (p.Thr267Ser)
c.491C>G (p.Thr164Ser)
n.1680G>C
c.1934C>G (p.Thr645Ser)
c.1925C>G (p.Thr642Ser)
c.1952C>G (p.Thr651Ser)
c.1949C>G (p.Thr650Ser)
c.1931C>G (p.Thr644Ser)
c.1874C>G (p.Thr625Ser)
c.1808C>G (p.Thr603Ser)
c.374C>G (p.Thr125Ser)
c.1787C>G (p.Thr596Ser)
c.1922C>G (p.Thr641Ser)
c.1928C>G (p.Thr643Ser)
c.1844C>G (p.Thr615Ser)
c.1772C>G (p.Thr591Ser)
c.1706C>G (p.Thr569Ser)
c.1067C>G (p.Thr356Ser)
c.1685C>G (p.Thr562Ser)
9g.137776769C>TCA375776685EHMT1c.1943C>T (p.Thr648Ile)
c.1829C>T (p.Thr610Ile)
c.1850C>T (p.Thr617Ile)
c.1983C>T (n.1983C>T)
c.1570C>T
c.1112C>T (p.Thr371Ile)
c.*1678C>T (n.*1678C>T)
c.800C>T (p.Thr267Ile)
c.491C>T (p.Thr164Ile)
n.1680G>A
c.1934C>T (p.Thr645Ile)
c.1925C>T (p.Thr642Ile)
c.1952C>T (p.Thr651Ile)
c.1949C>T (p.Thr650Ile)
c.1931C>T (p.Thr644Ile)
c.1874C>T (p.Thr625Ile)
c.1808C>T (p.Thr603Ile)
c.374C>T (p.Thr125Ile)
c.1787C>T (p.Thr596Ile)
c.1922C>T (p.Thr641Ile)
c.1928C>T (p.Thr643Ile)
c.1844C>T (p.Thr615Ile)
c.1772C>T (p.Thr591Ile)
c.1706C>T (p.Thr569Ile)
c.1067C>T (p.Thr356Ile)
c.1685C>T (p.Thr562Ile)
9g.137776770C>ACA467874116EHMT1c.1944C>A (p.Thr648=)
c.1830C>A (p.Thr610=)
c.1851C>A (p.Thr617=)
c.1984C>A (n.1984C>A)
c.1571C>A
c.1113C>A (p.Thr371=)
c.*1679C>A (n.*1679C>A)
c.801C>A (p.Thr267=)
c.492C>A (p.Thr164=)
n.1679G>T
c.1935C>A (p.Thr645=)
c.1926C>A (p.Thr642=)
c.1953C>A (p.Thr651=)
c.1950C>A (p.Thr650=)
c.1932C>A (p.Thr644=)
c.1875C>A (p.Thr625=)
c.1809C>A (p.Thr603=)
c.375C>A (p.Thr125=)
c.1788C>A (p.Thr596=)
c.1923C>A (p.Thr641=)
c.1929C>A (p.Thr643=)
c.1845C>A (p.Thr615=)
c.1773C>A (p.Thr591=)
c.1707C>A (p.Thr569=)
c.1068C>A (p.Thr356=)
c.1686C>A (p.Thr562=)
9g.137776770C>GCA467874117EHMT1c.1944C>G (p.Thr648=)
c.1830C>G (p.Thr610=)
c.1851C>G (p.Thr617=)
c.1984C>G (n.1984C>G)
c.1571C>G
c.1113C>G (p.Thr371=)
c.*1679C>G (n.*1679C>G)
c.801C>G (p.Thr267=)
c.492C>G (p.Thr164=)
n.1679G>C
c.1935C>G (p.Thr645=)
c.1926C>G (p.Thr642=)
c.1953C>G (p.Thr651=)
c.1950C>G (p.Thr650=)
c.1932C>G (p.Thr644=)
c.1875C>G (p.Thr625=)
c.1809C>G (p.Thr603=)
c.375C>G (p.Thr125=)
c.1788C>G (p.Thr596=)
c.1923C>G (p.Thr641=)
c.1929C>G (p.Thr643=)
c.1845C>G (p.Thr615=)
c.1773C>G (p.Thr591=)
c.1707C>G (p.Thr569=)
c.1068C>G (p.Thr356=)
c.1686C>G (p.Thr562=)
 gnomAD v4
9g.137776770C>TCA467874118EHMT1c.1944C>T (p.Thr648=)
c.1830C>T (p.Thr610=)
c.1851C>T (p.Thr617=)
c.1984C>T (n.1984C>T)
c.1571C>T
c.1113C>T (p.Thr371=)
c.*1679C>T (n.*1679C>T)
c.801C>T (p.Thr267=)
c.492C>T (p.Thr164=)
n.1679G>A
c.1935C>T (p.Thr645=)
c.1926C>T (p.Thr642=)
c.1953C>T (p.Thr651=)
c.1950C>T (p.Thr650=)
c.1932C>T (p.Thr644=)
c.1875C>T (p.Thr625=)
c.1809C>T (p.Thr603=)
c.375C>T (p.Thr125=)
c.1788C>T (p.Thr596=)
c.1923C>T (p.Thr641=)
c.1929C>T (p.Thr643=)
c.1845C>T (p.Thr615=)
c.1773C>T (p.Thr591=)
c.1707C>T (p.Thr569=)
c.1068C>T (p.Thr356=)
c.1686C>T (p.Thr562=)
9g.137776771T>ACA375776690EHMT1c.1945T>A (p.Ser649Thr)
c.1831T>A (p.Ser611Thr)
c.1852T>A (p.Ser618Thr)
c.1985T>A (n.1985T>A)
c.1572T>A
c.1114T>A (p.Ser372Thr)
c.*1680T>A (n.*1680T>A)
c.802T>A (p.Ser268Thr)
c.493T>A (p.Ser165Thr)
n.1678A>T
c.1936T>A (p.Ser646Thr)
c.1927T>A (p.Ser643Thr)
c.1954T>A (p.Ser652Thr)
c.1951T>A (p.Ser651Thr)
c.1933T>A (p.Ser645Thr)
c.1876T>A (p.Ser626Thr)
c.1810T>A (p.Ser604Thr)
c.376T>A (p.Ser126Thr)
c.1789T>A (p.Ser597Thr)
c.1924T>A (p.Ser642Thr)
c.1930T>A (p.Ser644Thr)
c.1846T>A (p.Ser616Thr)
c.1774T>A (p.Ser592Thr)
c.1708T>A (p.Ser570Thr)
c.1069T>A (p.Ser357Thr)
c.1687T>A (p.Ser563Thr)
9g.137776771T>CCA375776693EHMT1c.1945T>C (p.Ser649Pro)
c.1831T>C (p.Ser611Pro)
c.1852T>C (p.Ser618Pro)
c.1985T>C (n.1985T>C)
c.1572T>C
c.1114T>C (p.Ser372Pro)
c.*1680T>C (n.*1680T>C)
c.802T>C (p.Ser268Pro)
c.493T>C (p.Ser165Pro)
n.1678A>G
c.1936T>C (p.Ser646Pro)
c.1927T>C (p.Ser643Pro)
c.1954T>C (p.Ser652Pro)
c.1951T>C (p.Ser651Pro)
c.1933T>C (p.Ser645Pro)
c.1876T>C (p.Ser626Pro)
c.1810T>C (p.Ser604Pro)
c.376T>C (p.Ser126Pro)
c.1789T>C (p.Ser597Pro)
c.1924T>C (p.Ser642Pro)
c.1930T>C (p.Ser644Pro)
c.1846T>C (p.Ser616Pro)
c.1774T>C (p.Ser592Pro)
c.1708T>C (p.Ser570Pro)
c.1069T>C (p.Ser357Pro)
c.1687T>C (p.Ser563Pro)
9g.137776771T>GCA375776699EHMT1c.1945T>G (p.Ser649Ala)
c.1831T>G (p.Ser611Ala)
c.1852T>G (p.Ser618Ala)
c.1985T>G (n.1985T>G)
c.1572T>G
c.1114T>G (p.Ser372Ala)
c.*1680T>G (n.*1680T>G)
c.802T>G (p.Ser268Ala)
c.493T>G (p.Ser165Ala)
n.1678A>C
c.1936T>G (p.Ser646Ala)
c.1927T>G (p.Ser643Ala)
c.1954T>G (p.Ser652Ala)
c.1951T>G (p.Ser651Ala)
c.1933T>G (p.Ser645Ala)
c.1876T>G (p.Ser626Ala)
c.1810T>G (p.Ser604Ala)
c.376T>G (p.Ser126Ala)
c.1789T>G (p.Ser597Ala)
c.1924T>G (p.Ser642Ala)
c.1930T>G (p.Ser644Ala)
c.1846T>G (p.Ser616Ala)
c.1774T>G (p.Ser592Ala)
c.1708T>G (p.Ser570Ala)
c.1069T>G (p.Ser357Ala)
c.1687T>G (p.Ser563Ala)
9g.137776772C>ACA375776703EHMT1c.1946C>A (p.Ser649Ter)
c.1832C>A (p.Ser611Ter)
c.1853C>A (p.Ser618Ter)
c.1986C>A (n.1986C>A)
c.1573C>A
c.1115C>A (p.Ser372Ter)
c.*1681C>A (n.*1681C>A)
c.803C>A (p.Ser268Ter)
c.494C>A (p.Ser165Ter)
n.1677G>T
c.1937C>A (p.Ser646Ter)
c.1928C>A (p.Ser643Ter)
c.1955C>A (p.Ser652Ter)
c.1952C>A (p.Ser651Ter)
c.1934C>A (p.Ser645Ter)
c.1877C>A (p.Ser626Ter)
c.1811C>A (p.Ser604Ter)
c.377C>A (p.Ser126Ter)
c.1790C>A (p.Ser597Ter)
c.1925C>A (p.Ser642Ter)
c.1931C>A (p.Ser644Ter)
c.1847C>A (p.Ser616Ter)
c.1775C>A (p.Ser592Ter)
c.1709C>A (p.Ser570Ter)
c.1070C>A (p.Ser357Ter)
c.1688C>A (p.Ser563Ter)
9g.137776772C=CA1884666507EHMT1c.1946C= (p.Ser649=)
c.1832C= (p.Ser611=)
c.1853C= (p.Ser618=)
c.1986C= (n.1986C=)
c.1573C=
c.1115C= (p.Ser372=)
c.*1681C= (n.*1681C=)
c.803C= (p.Ser268=)
c.494C= (p.Ser165=)
n.1677G=
c.1937C= (p.Ser646=)
c.1928C= (p.Ser643=)
c.1955C= (p.Ser652=)
c.1952C= (p.Ser651=)
c.1934C= (p.Ser645=)
c.1877C= (p.Ser626=)
c.1811C= (p.Ser604=)
c.377C= (p.Ser126=)
c.1790C= (p.Ser597=)
c.1925C= (p.Ser642=)
c.1931C= (p.Ser644=)
c.1847C= (p.Ser616=)
c.1775C= (p.Ser592=)
c.1709C= (p.Ser570=)
c.1070C= (p.Ser357=)
c.1688C= (p.Ser563=)
9g.137776772C>GCA375776705EHMT1c.1946C>G (p.Ser649Trp)
c.1832C>G (p.Ser611Trp)
c.1853C>G (p.Ser618Trp)
c.1986C>G (n.1986C>G)
c.1573C>G
c.1115C>G (p.Ser372Trp)
c.*1681C>G (n.*1681C>G)
c.803C>G (p.Ser268Trp)
c.494C>G (p.Ser165Trp)
n.1677G>C
c.1937C>G (p.Ser646Trp)
c.1928C>G (p.Ser643Trp)
c.1955C>G (p.Ser652Trp)
c.1952C>G (p.Ser651Trp)
c.1934C>G (p.Ser645Trp)
c.1877C>G (p.Ser626Trp)
c.1811C>G (p.Ser604Trp)
c.377C>G (p.Ser126Trp)
c.1790C>G (p.Ser597Trp)
c.1925C>G (p.Ser642Trp)
c.1931C>G (p.Ser644Trp)
c.1847C>G (p.Ser616Trp)
c.1775C>G (p.Ser592Trp)
c.1709C>G (p.Ser570Trp)
c.1070C>G (p.Ser357Trp)
c.1688C>G (p.Ser563Trp)
9g.137776772C>TCA201804134EHMT1c.1946C>T (p.Ser649Leu)
c.1832C>T (p.Ser611Leu)
c.1853C>T (p.Ser618Leu)
c.1986C>T (n.1986C>T)
c.1573C>T
c.1115C>T (p.Ser372Leu)
c.*1681C>T (n.*1681C>T)
c.803C>T (p.Ser268Leu)
c.494C>T (p.Ser165Leu)
n.1677G>A
c.1937C>T (p.Ser646Leu)
c.1928C>T (p.Ser643Leu)
c.1955C>T (p.Ser652Leu)
c.1952C>T (p.Ser651Leu)
c.1934C>T (p.Ser645Leu)
c.1877C>T (p.Ser626Leu)
c.1811C>T (p.Ser604Leu)
c.377C>T (p.Ser126Leu)
c.1790C>T (p.Ser597Leu)
c.1925C>T (p.Ser642Leu)
c.1931C>T (p.Ser644Leu)
c.1847C>T (p.Ser616Leu)
c.1775C>T (p.Ser592Leu)
c.1709C>T (p.Ser570Leu)
c.1070C>T (p.Ser357Leu)
c.1688C>T (p.Ser563Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.137776773G>ACA5374759EHMT1c.1947G>A (p.Ser649=)
c.1833G>A (p.Ser611=)
c.1854G>A (p.Ser618=)
c.1987G>A (n.1987G>A)
c.1574G>A
c.1116G>A (p.Ser372=)
c.*1682G>A (n.*1682G>A)
c.804G>A (p.Ser268=)
c.495G>A (p.Ser165=)
n.1676C>T
c.1938G>A (p.Ser646=)
c.1929G>A (p.Ser643=)
c.1956G>A (p.Ser652=)
c.1953G>A (p.Ser651=)
c.1935G>A (p.Ser645=)
c.1878G>A (p.Ser626=)
c.1812G>A (p.Ser604=)
c.378G>A (p.Ser126=)
c.1791G>A (p.Ser597=)
c.1926G>A (p.Ser642=)
c.1932G>A (p.Ser644=)
c.1848G>A (p.Ser616=)
c.1776G>A (p.Ser592=)
c.1710G>A (p.Ser570=)
c.1071G>A (p.Ser357=)
c.1689G>A (p.Ser563=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776773G>CCA467874119EHMT1c.1947G>C (p.Ser649=)
c.1833G>C (p.Ser611=)
c.1854G>C (p.Ser618=)
c.1987G>C (n.1987G>C)
c.1574G>C
c.1116G>C (p.Ser372=)
c.*1682G>C (n.*1682G>C)
c.804G>C (p.Ser268=)
c.495G>C (p.Ser165=)
n.1676C>G
c.1938G>C (p.Ser646=)
c.1929G>C (p.Ser643=)
c.1956G>C (p.Ser652=)
c.1953G>C (p.Ser651=)
c.1935G>C (p.Ser645=)
c.1878G>C (p.Ser626=)
c.1812G>C (p.Ser604=)
c.378G>C (p.Ser126=)
c.1791G>C (p.Ser597=)
c.1926G>C (p.Ser642=)
c.1932G>C (p.Ser644=)
c.1848G>C (p.Ser616=)
c.1776G>C (p.Ser592=)
c.1710G>C (p.Ser570=)
c.1071G>C (p.Ser357=)
c.1689G>C (p.Ser563=)
9g.137776773G=CA1884666508EHMT1c.1947G= (p.Ser649=)
c.1833G= (p.Ser611=)
c.1854G= (p.Ser618=)
c.1987G= (n.1987G=)
c.1574G=
c.1116G= (p.Ser372=)
c.*1682G= (n.*1682G=)
c.804G= (p.Ser268=)
c.495G= (p.Ser165=)
n.1676C=
c.1938G= (p.Ser646=)
c.1929G= (p.Ser643=)
c.1956G= (p.Ser652=)
c.1953G= (p.Ser651=)
c.1935G= (p.Ser645=)
c.1878G= (p.Ser626=)
c.1812G= (p.Ser604=)
c.378G= (p.Ser126=)
c.1791G= (p.Ser597=)
c.1926G= (p.Ser642=)
c.1932G= (p.Ser644=)
c.1848G= (p.Ser616=)
c.1776G= (p.Ser592=)
c.1710G= (p.Ser570=)
c.1071G= (p.Ser357=)
c.1689G= (p.Ser563=)
9g.137776773G>TCA467874120EHMT1c.1947G>T (p.Ser649=)
c.1833G>T (p.Ser611=)
c.1854G>T (p.Ser618=)
c.1987G>T (n.1987G>T)
c.1574G>T
c.1116G>T (p.Ser372=)
c.*1682G>T (n.*1682G>T)
c.804G>T (p.Ser268=)
c.495G>T (p.Ser165=)
n.1676C>A
c.1938G>T (p.Ser646=)
c.1929G>T (p.Ser643=)
c.1956G>T (p.Ser652=)
c.1953G>T (p.Ser651=)
c.1935G>T (p.Ser645=)
c.1878G>T (p.Ser626=)
c.1812G>T (p.Ser604=)
c.378G>T (p.Ser126=)
c.1791G>T (p.Ser597=)
c.1926G>T (p.Ser642=)
c.1932G>T (p.Ser644=)
c.1848G>T (p.Ser616=)
c.1776G>T (p.Ser592=)
c.1710G>T (p.Ser570=)
c.1071G>T (p.Ser357=)
c.1689G>T (p.Ser563=)
 gnomAD v4
9g.137776774A>CCA375776716EHMT1c.1948A>C (p.Thr650Pro)
c.1834A>C (p.Thr612Pro)
c.1855A>C (p.Thr619Pro)
c.1988A>C (n.1988A>C)
c.1575A>C
c.1117A>C (p.Thr373Pro)
c.*1683A>C (n.*1683A>C)
c.805A>C (p.Thr269Pro)
c.496A>C (p.Thr166Pro)
n.1675T>G
c.1939A>C (p.Thr647Pro)
c.1930A>C (p.Thr644Pro)
c.1957A>C (p.Thr653Pro)
c.1954A>C (p.Thr652Pro)
c.1936A>C (p.Thr646Pro)
c.1879A>C (p.Thr627Pro)
c.1813A>C (p.Thr605Pro)
c.379A>C (p.Thr127Pro)
c.1792A>C (p.Thr598Pro)
c.1927A>C (p.Thr643Pro)
c.1933A>C (p.Thr645Pro)
c.1849A>C (p.Thr617Pro)
c.1777A>C (p.Thr593Pro)
c.1711A>C (p.Thr571Pro)
c.1072A>C (p.Thr358Pro)
c.1690A>C (p.Thr564Pro)
9g.137776774A>GCA375776720EHMT1c.1948A>G (p.Thr650Ala)
c.1834A>G (p.Thr612Ala)
c.1855A>G (p.Thr619Ala)
c.1988A>G (n.1988A>G)
c.1575A>G
c.1117A>G (p.Thr373Ala)
c.*1683A>G (n.*1683A>G)
c.805A>G (p.Thr269Ala)
c.496A>G (p.Thr166Ala)
n.1675T>C
c.1939A>G (p.Thr647Ala)
c.1930A>G (p.Thr644Ala)
c.1957A>G (p.Thr653Ala)
c.1954A>G (p.Thr652Ala)
c.1936A>G (p.Thr646Ala)
c.1879A>G (p.Thr627Ala)
c.1813A>G (p.Thr605Ala)
c.379A>G (p.Thr127Ala)
c.1792A>G (p.Thr598Ala)
c.1927A>G (p.Thr643Ala)
c.1933A>G (p.Thr645Ala)
c.1849A>G (p.Thr617Ala)
c.1777A>G (p.Thr593Ala)
c.1711A>G (p.Thr571Ala)
c.1072A>G (p.Thr358Ala)
c.1690A>G (p.Thr564Ala)
9g.137776774A>TCA375776717EHMT1c.1948A>T (p.Thr650Ser)
c.1834A>T (p.Thr612Ser)
c.1855A>T (p.Thr619Ser)
c.1988A>T (n.1988A>T)
c.1575A>T
c.1117A>T (p.Thr373Ser)
c.*1683A>T (n.*1683A>T)
c.805A>T (p.Thr269Ser)
c.496A>T (p.Thr166Ser)
n.1675T>A
c.1939A>T (p.Thr647Ser)
c.1930A>T (p.Thr644Ser)
c.1957A>T (p.Thr653Ser)
c.1954A>T (p.Thr652Ser)
c.1936A>T (p.Thr646Ser)
c.1879A>T (p.Thr627Ser)
c.1813A>T (p.Thr605Ser)
c.379A>T (p.Thr127Ser)
c.1792A>T (p.Thr598Ser)
c.1927A>T (p.Thr643Ser)
c.1933A>T (p.Thr645Ser)
c.1849A>T (p.Thr617Ser)
c.1777A>T (p.Thr593Ser)
c.1711A>T (p.Thr571Ser)
c.1072A>T (p.Thr358Ser)
c.1690A>T (p.Thr564Ser)
9g.137776775C>ACA375776721EHMT1c.1949C>A (p.Thr650Asn)
c.1835C>A (p.Thr612Asn)
c.1856C>A (p.Thr619Asn)
c.1989C>A (n.1989C>A)
c.1576C>A
c.1118C>A (p.Thr373Asn)
c.*1684C>A (n.*1684C>A)
c.806C>A (p.Thr269Asn)
c.497C>A (p.Thr166Asn)
n.1674G>T
c.1940C>A (p.Thr647Asn)
c.1931C>A (p.Thr644Asn)
c.1958C>A (p.Thr653Asn)
c.1955C>A (p.Thr652Asn)
c.1937C>A (p.Thr646Asn)
c.1880C>A (p.Thr627Asn)
c.1814C>A (p.Thr605Asn)
c.380C>A (p.Thr127Asn)
c.1793C>A (p.Thr598Asn)
c.1928C>A (p.Thr643Asn)
c.1934C>A (p.Thr645Asn)
c.1850C>A (p.Thr617Asn)
c.1778C>A (p.Thr593Asn)
c.1712C>A (p.Thr571Asn)
c.1073C>A (p.Thr358Asn)
c.1691C>A (p.Thr564Asn)
9g.137776775C>GCA375776722EHMT1c.1949C>G (p.Thr650Ser)
c.1835C>G (p.Thr612Ser)
c.1856C>G (p.Thr619Ser)
c.1989C>G (n.1989C>G)
c.1576C>G
c.1118C>G (p.Thr373Ser)
c.*1684C>G (n.*1684C>G)
c.806C>G (p.Thr269Ser)
c.497C>G (p.Thr166Ser)
n.1674G>C
c.1940C>G (p.Thr647Ser)
c.1931C>G (p.Thr644Ser)
c.1958C>G (p.Thr653Ser)
c.1955C>G (p.Thr652Ser)
c.1937C>G (p.Thr646Ser)
c.1880C>G (p.Thr627Ser)
c.1814C>G (p.Thr605Ser)
c.380C>G (p.Thr127Ser)
c.1793C>G (p.Thr598Ser)
c.1928C>G (p.Thr643Ser)
c.1934C>G (p.Thr645Ser)
c.1850C>G (p.Thr617Ser)
c.1778C>G (p.Thr593Ser)
c.1712C>G (p.Thr571Ser)
c.1073C>G (p.Thr358Ser)
c.1691C>G (p.Thr564Ser)
9g.137776775C>TCA375776724EHMT1c.1949C>T (p.Thr650Ile)
c.1835C>T (p.Thr612Ile)
c.1856C>T (p.Thr619Ile)
c.1989C>T (n.1989C>T)
c.1576C>T
c.1118C>T (p.Thr373Ile)
c.*1684C>T (n.*1684C>T)
c.806C>T (p.Thr269Ile)
c.497C>T (p.Thr166Ile)
n.1674G>A
c.1940C>T (p.Thr647Ile)
c.1931C>T (p.Thr644Ile)
c.1958C>T (p.Thr653Ile)
c.1955C>T (p.Thr652Ile)
c.1937C>T (p.Thr646Ile)
c.1880C>T (p.Thr627Ile)
c.1814C>T (p.Thr605Ile)
c.380C>T (p.Thr127Ile)
c.1793C>T (p.Thr598Ile)
c.1928C>T (p.Thr643Ile)
c.1934C>T (p.Thr645Ile)
c.1850C>T (p.Thr617Ile)
c.1778C>T (p.Thr593Ile)
c.1712C>T (p.Thr571Ile)
c.1073C>T (p.Thr358Ile)
c.1691C>T (p.Thr564Ile)
 ClinVar
9g.137776776C>ACA467874121EHMT1c.1950C>A (p.Thr650=)
c.1836C>A (p.Thr612=)
c.1857C>A (p.Thr619=)
c.1990C>A (n.1990C>A)
c.1577C>A
c.1119C>A (p.Thr373=)
c.*1685C>A (n.*1685C>A)
c.807C>A (p.Thr269=)
c.498C>A (p.Thr166=)
n.1673G>T
c.1941C>A (p.Thr647=)
c.1932C>A (p.Thr644=)
c.1959C>A (p.Thr653=)
c.1956C>A (p.Thr652=)
c.1938C>A (p.Thr646=)
c.1881C>A (p.Thr627=)
c.1815C>A (p.Thr605=)
c.381C>A (p.Thr127=)
c.1794C>A (p.Thr598=)
c.1929C>A (p.Thr643=)
c.1935C>A (p.Thr645=)
c.1851C>A (p.Thr617=)
c.1779C>A (p.Thr593=)
c.1713C>A (p.Thr571=)
c.1074C>A (p.Thr358=)
c.1692C>A (p.Thr564=)
 gnomAD v4
9g.137776776C=CA1884666509EHMT1c.1950C= (p.Thr650=)
c.1836C= (p.Thr612=)
c.1857C= (p.Thr619=)
c.1990C= (n.1990C=)
c.1577C=
c.1119C= (p.Thr373=)
c.*1685C= (n.*1685C=)
c.807C= (p.Thr269=)
c.498C= (p.Thr166=)
n.1673G=
c.1941C= (p.Thr647=)
c.1932C= (p.Thr644=)
c.1959C= (p.Thr653=)
c.1956C= (p.Thr652=)
c.1938C= (p.Thr646=)
c.1881C= (p.Thr627=)
c.1815C= (p.Thr605=)
c.381C= (p.Thr127=)
c.1794C= (p.Thr598=)
c.1929C= (p.Thr643=)
c.1935C= (p.Thr645=)
c.1851C= (p.Thr617=)
c.1779C= (p.Thr593=)
c.1713C= (p.Thr571=)
c.1074C= (p.Thr358=)
c.1692C= (p.Thr564=)
9g.137776776C>GCA467874122EHMT1c.1950C>G (p.Thr650=)
c.1836C>G (p.Thr612=)
c.1857C>G (p.Thr619=)
c.1990C>G (n.1990C>G)
c.1577C>G
c.1119C>G (p.Thr373=)
c.*1685C>G (n.*1685C>G)
c.807C>G (p.Thr269=)
c.498C>G (p.Thr166=)
n.1673G>C
c.1941C>G (p.Thr647=)
c.1932C>G (p.Thr644=)
c.1959C>G (p.Thr653=)
c.1956C>G (p.Thr652=)
c.1938C>G (p.Thr646=)
c.1881C>G (p.Thr627=)
c.1815C>G (p.Thr605=)
c.381C>G (p.Thr127=)
c.1794C>G (p.Thr598=)
c.1929C>G (p.Thr643=)
c.1935C>G (p.Thr645=)
c.1851C>G (p.Thr617=)
c.1779C>G (p.Thr593=)
c.1713C>G (p.Thr571=)
c.1074C>G (p.Thr358=)
c.1692C>G (p.Thr564=)
9g.137776776C>TCA209012EHMT1c.1950C>T (p.Thr650=)
c.1836C>T (p.Thr612=)
c.1857C>T (p.Thr619=)
c.1990C>T (n.1990C>T)
c.1577C>T
c.1119C>T (p.Thr373=)
c.*1685C>T (n.*1685C>T)
c.807C>T (p.Thr269=)
c.498C>T (p.Thr166=)
n.1673G>A
c.1941C>T (p.Thr647=)
c.1932C>T (p.Thr644=)
c.1959C>T (p.Thr653=)
c.1956C>T (p.Thr652=)
c.1938C>T (p.Thr646=)
c.1881C>T (p.Thr627=)
c.1815C>T (p.Thr605=)
c.381C>T (p.Thr127=)
c.1794C>T (p.Thr598=)
c.1929C>T (p.Thr643=)
c.1935C>T (p.Thr645=)
c.1851C>T (p.Thr617=)
c.1779C>T (p.Thr593=)
c.1713C>T (p.Thr571=)
c.1074C>T (p.Thr358=)
c.1692C>T (p.Thr564=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776777G>ACA5374760EHMT1c.1951G>A (p.Val651Met)
c.1837G>A (p.Val613Met)
c.1858G>A (p.Val620Met)
c.1991G>A (n.1991G>A)
c.1578G>A
c.1120G>A (p.Val374Met)
c.*1686G>A (n.*1686G>A)
c.808G>A (p.Val270Met)
c.499G>A (p.Val167Met)
n.1672C>T
c.1942G>A (p.Val648Met)
c.1933G>A (p.Val645Met)
c.1960G>A (p.Val654Met)
c.1957G>A (p.Val653Met)
c.1939G>A (p.Val647Met)
c.1882G>A (p.Val628Met)
c.1816G>A (p.Val606Met)
c.382G>A (p.Val128Met)
c.1795G>A (p.Val599Met)
c.1930G>A (p.Val644Met)
c.1936G>A (p.Val646Met)
c.1852G>A (p.Val618Met)
c.1780G>A (p.Val594Met)
c.1714G>A (p.Val572Met)
c.1075G>A (p.Val359Met)
c.1693G>A (p.Val565Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137776777G>CCA5374761EHMT1c.1951G>C (p.Val651Leu)
c.1837G>C (p.Val613Leu)
c.1858G>C (p.Val620Leu)
c.1991G>C (n.1991G>C)
c.1578G>C
c.1120G>C (p.Val374Leu)
c.*1686G>C (n.*1686G>C)
c.808G>C (p.Val270Leu)
c.499G>C (p.Val167Leu)
n.1672C>G
c.1942G>C (p.Val648Leu)
c.1933G>C (p.Val645Leu)
c.1960G>C (p.Val654Leu)
c.1957G>C (p.Val653Leu)
c.1939G>C (p.Val647Leu)
c.1882G>C (p.Val628Leu)
c.1816G>C (p.Val606Leu)
c.382G>C (p.Val128Leu)
c.1795G>C (p.Val599Leu)
c.1930G>C (p.Val644Leu)
c.1936G>C (p.Val646Leu)
c.1852G>C (p.Val618Leu)
c.1780G>C (p.Val594Leu)
c.1714G>C (p.Val572Leu)
c.1075G>C (p.Val359Leu)
c.1693G>C (p.Val565Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776777G=CA1884666510EHMT1c.1951G= (p.Val651=)
c.1837G= (p.Val613=)
c.1858G= (p.Val620=)
c.1991G= (n.1991G=)
c.1578G=
c.1120G= (p.Val374=)
c.*1686G= (n.*1686G=)
c.808G= (p.Val270=)
c.499G= (p.Val167=)
n.1672C=
c.1942G= (p.Val648=)
c.1933G= (p.Val645=)
c.1960G= (p.Val654=)
c.1957G= (p.Val653=)
c.1939G= (p.Val647=)
c.1882G= (p.Val628=)
c.1816G= (p.Val606=)
c.382G= (p.Val128=)
c.1795G= (p.Val599=)
c.1930G= (p.Val644=)
c.1936G= (p.Val646=)
c.1852G= (p.Val618=)
c.1780G= (p.Val594=)
c.1714G= (p.Val572=)
c.1075G= (p.Val359=)
c.1693G= (p.Val565=)
9g.137776777G>TCA375776727EHMT1c.1951G>T (p.Val651Leu)
c.1837G>T (p.Val613Leu)
c.1858G>T (p.Val620Leu)
c.1991G>T (n.1991G>T)
c.1578G>T
c.1120G>T (p.Val374Leu)
c.*1686G>T (n.*1686G>T)
c.808G>T (p.Val270Leu)
c.499G>T (p.Val167Leu)
n.1672C>A
c.1942G>T (p.Val648Leu)
c.1933G>T (p.Val645Leu)
c.1960G>T (p.Val654Leu)
c.1957G>T (p.Val653Leu)
c.1939G>T (p.Val647Leu)
c.1882G>T (p.Val628Leu)
c.1816G>T (p.Val606Leu)
c.382G>T (p.Val128Leu)
c.1795G>T (p.Val599Leu)
c.1930G>T (p.Val644Leu)
c.1936G>T (p.Val646Leu)
c.1852G>T (p.Val618Leu)
c.1780G>T (p.Val594Leu)
c.1714G>T (p.Val572Leu)
c.1075G>T (p.Val359Leu)
c.1693G>T (p.Val565Leu)
9g.137776778T>ACA375776731EHMT1c.1952T>A (p.Val651Glu)
c.1838T>A (p.Val613Glu)
c.1859T>A (p.Val620Glu)
c.1992T>A (n.1992T>A)
c.1579T>A
c.1121T>A (p.Val374Glu)
c.*1687T>A (n.*1687T>A)
c.809T>A (p.Val270Glu)
c.500T>A (p.Val167Glu)
n.1671A>T
c.1943T>A (p.Val648Glu)
c.1934T>A (p.Val645Glu)
c.1961T>A (p.Val654Glu)
c.1958T>A (p.Val653Glu)
c.1940T>A (p.Val647Glu)
c.1883T>A (p.Val628Glu)
c.1817T>A (p.Val606Glu)
c.383T>A (p.Val128Glu)
c.1796T>A (p.Val599Glu)
c.1931T>A (p.Val644Glu)
c.1937T>A (p.Val646Glu)
c.1853T>A (p.Val618Glu)
c.1781T>A (p.Val594Glu)
c.1715T>A (p.Val572Glu)
c.1076T>A (p.Val359Glu)
c.1694T>A (p.Val565Glu)
9g.137776778T>CCA375776733EHMT1c.1952T>C (p.Val651Ala)
c.1838T>C (p.Val613Ala)
c.1859T>C (p.Val620Ala)
c.1992T>C (n.1992T>C)
c.1579T>C
c.1121T>C (p.Val374Ala)
c.*1687T>C (n.*1687T>C)
c.809T>C (p.Val270Ala)
c.500T>C (p.Val167Ala)
n.1671A>G
c.1943T>C (p.Val648Ala)
c.1934T>C (p.Val645Ala)
c.1961T>C (p.Val654Ala)
c.1958T>C (p.Val653Ala)
c.1940T>C (p.Val647Ala)
c.1883T>C (p.Val628Ala)
c.1817T>C (p.Val606Ala)
c.383T>C (p.Val128Ala)
c.1796T>C (p.Val599Ala)
c.1931T>C (p.Val644Ala)
c.1937T>C (p.Val646Ala)
c.1853T>C (p.Val618Ala)
c.1781T>C (p.Val594Ala)
c.1715T>C (p.Val572Ala)
c.1076T>C (p.Val359Ala)
c.1694T>C (p.Val565Ala)
9g.137776778T>GCA375776735EHMT1c.1952T>G (p.Val651Gly)
c.1838T>G (p.Val613Gly)
c.1859T>G (p.Val620Gly)
c.1992T>G (n.1992T>G)
c.1579T>G
c.1121T>G (p.Val374Gly)
c.*1687T>G (n.*1687T>G)
c.809T>G (p.Val270Gly)
c.500T>G (p.Val167Gly)
n.1671A>C
c.1943T>G (p.Val648Gly)
c.1934T>G (p.Val645Gly)
c.1961T>G (p.Val654Gly)
c.1958T>G (p.Val653Gly)
c.1940T>G (p.Val647Gly)
c.1883T>G (p.Val628Gly)
c.1817T>G (p.Val606Gly)
c.383T>G (p.Val128Gly)
c.1796T>G (p.Val599Gly)
c.1931T>G (p.Val644Gly)
c.1937T>G (p.Val646Gly)
c.1853T>G (p.Val618Gly)
c.1781T>G (p.Val594Gly)
c.1715T>G (p.Val572Gly)
c.1076T>G (p.Val359Gly)
c.1694T>G (p.Val565Gly)
9g.137776779G>ACA467874123EHMT1c.1953G>A (p.Val651=)
c.1839G>A (p.Val613=)
c.1860G>A (p.Val620=)
c.1993G>A (n.1993G>A)
c.1580G>A
c.1122G>A (p.Val374=)
c.*1688G>A (n.*1688G>A)
c.810G>A (p.Val270=)
c.501G>A (p.Val167=)
n.1670C>T
c.1944G>A (p.Val648=)
c.1935G>A (p.Val645=)
c.1962G>A (p.Val654=)
c.1959G>A (p.Val653=)
c.1941G>A (p.Val647=)
c.1884G>A (p.Val628=)
c.1818G>A (p.Val606=)
c.384G>A (p.Val128=)
c.1797G>A (p.Val599=)
c.1932G>A (p.Val644=)
c.1938G>A (p.Val646=)
c.1854G>A (p.Val618=)
c.1782G>A (p.Val594=)
c.1716G>A (p.Val572=)
c.1077G>A (p.Val359=)
c.1695G>A (p.Val565=)
9g.137776779G>CCA467874124EHMT1c.1953G>C (p.Val651=)
c.1839G>C (p.Val613=)
c.1860G>C (p.Val620=)
c.1993G>C (n.1993G>C)
c.1580G>C
c.1122G>C (p.Val374=)
c.*1688G>C (n.*1688G>C)
c.810G>C (p.Val270=)
c.501G>C (p.Val167=)
n.1670C>G
c.1944G>C (p.Val648=)
c.1935G>C (p.Val645=)
c.1962G>C (p.Val654=)
c.1959G>C (p.Val653=)
c.1941G>C (p.Val647=)
c.1884G>C (p.Val628=)
c.1818G>C (p.Val606=)
c.384G>C (p.Val128=)
c.1797G>C (p.Val599=)
c.1932G>C (p.Val644=)
c.1938G>C (p.Val646=)
c.1854G>C (p.Val618=)
c.1782G>C (p.Val594=)
c.1716G>C (p.Val572=)
c.1077G>C (p.Val359=)
c.1695G>C (p.Val565=)
9g.137776779G>TCA467874125EHMT1c.1953G>T (p.Val651=)
c.1839G>T (p.Val613=)
c.1860G>T (p.Val620=)
c.1993G>T (n.1993G>T)
c.1580G>T
c.1122G>T (p.Val374=)
c.*1688G>T (n.*1688G>T)
c.810G>T (p.Val270=)
c.501G>T (p.Val167=)
n.1670C>A
c.1944G>T (p.Val648=)
c.1935G>T (p.Val645=)
c.1962G>T (p.Val654=)
c.1959G>T (p.Val653=)
c.1941G>T (p.Val647=)
c.1884G>T (p.Val628=)
c.1818G>T (p.Val606=)
c.384G>T (p.Val128=)
c.1797G>T (p.Val599=)
c.1932G>T (p.Val644=)
c.1938G>T (p.Val646=)
c.1854G>T (p.Val618=)
c.1782G>T (p.Val594=)
c.1716G>T (p.Val572=)
c.1077G>T (p.Val359=)
c.1695G>T (p.Val565=)
9g.137776780A>CCA375776737EHMT1c.1954A>C (p.Thr652Pro)
c.1840A>C (p.Thr614Pro)
c.1861A>C (p.Thr621Pro)
c.1994A>C (n.1994A>C)
c.1581A>C
c.1123A>C (p.Thr375Pro)
c.*1689A>C (n.*1689A>C)
c.811A>C (p.Thr271Pro)
c.502A>C
n.1669T>G
c.1945A>C (p.Thr649Pro)
c.1936A>C (p.Thr646Pro)
c.1963A>C (p.Thr655Pro)
c.1960A>C (p.Thr654Pro)
c.1942A>C (p.Thr648Pro)
c.1885A>C (p.Thr629Pro)
c.1819A>C (p.Thr607Pro)
c.385A>C (p.Thr129Pro)
c.1798A>C (p.Thr600Pro)
c.1933A>C (p.Thr645Pro)
c.1939A>C (p.Thr647Pro)
c.1855A>C (p.Thr619Pro)
c.1783A>C (p.Thr595Pro)
c.1717A>C (p.Thr573Pro)
c.1078A>C (p.Thr360Pro)
c.1696A>C (p.Thr566Pro)
9g.137776780A>GCA375776742EHMT1c.1954A>G (p.Thr652Ala)
c.1840A>G (p.Thr614Ala)
c.1861A>G (p.Thr621Ala)
c.1994A>G (n.1994A>G)
c.1581A>G
c.1123A>G (p.Thr375Ala)
c.*1689A>G (n.*1689A>G)
c.811A>G (p.Thr271Ala)
c.502A>G
n.1669T>C
c.1945A>G (p.Thr649Ala)
c.1936A>G (p.Thr646Ala)
c.1963A>G (p.Thr655Ala)
c.1960A>G (p.Thr654Ala)
c.1942A>G (p.Thr648Ala)
c.1885A>G (p.Thr629Ala)
c.1819A>G (p.Thr607Ala)
c.385A>G (p.Thr129Ala)
c.1798A>G (p.Thr600Ala)
c.1933A>G (p.Thr645Ala)
c.1939A>G (p.Thr647Ala)
c.1855A>G (p.Thr619Ala)
c.1783A>G (p.Thr595Ala)
c.1717A>G (p.Thr573Ala)
c.1078A>G (p.Thr360Ala)
c.1696A>G (p.Thr566Ala)
9g.137776780A>TCA375776743EHMT1c.1954A>T (p.Thr652Ser)
c.1840A>T (p.Thr614Ser)
c.1861A>T (p.Thr621Ser)
c.1994A>T (n.1994A>T)
c.1581A>T
c.1123A>T (p.Thr375Ser)
c.*1689A>T (n.*1689A>T)
c.811A>T (p.Thr271Ser)
c.502A>T
n.1669T>A
c.1945A>T (p.Thr649Ser)
c.1936A>T (p.Thr646Ser)
c.1963A>T (p.Thr655Ser)
c.1960A>T (p.Thr654Ser)
c.1942A>T (p.Thr648Ser)
c.1885A>T (p.Thr629Ser)
c.1819A>T (p.Thr607Ser)
c.385A>T (p.Thr129Ser)
c.1798A>T (p.Thr600Ser)
c.1933A>T (p.Thr645Ser)
c.1939A>T (p.Thr647Ser)
c.1855A>T (p.Thr619Ser)
c.1783A>T (p.Thr595Ser)
c.1717A>T (p.Thr573Ser)
c.1078A>T (p.Thr360Ser)
c.1696A>T (p.Thr566Ser)
9g.137776781C>ACA375776746EHMT1c.1955C>A (p.Thr652Lys)
c.1841C>A (p.Thr614Lys)
c.1862C>A (p.Thr621Lys)
c.1995C>A (n.1995C>A)
c.1582C>A
c.1124C>A (p.Thr375Lys)
c.*1690C>A (n.*1690C>A)
c.812C>A (p.Thr271Lys)
c.503C>A
n.1668G>T
c.1946C>A (p.Thr649Lys)
c.1937C>A (p.Thr646Lys)
c.1964C>A (p.Thr655Lys)
c.1961C>A (p.Thr654Lys)
c.1943C>A (p.Thr648Lys)
c.1886C>A (p.Thr629Lys)
c.1820C>A (p.Thr607Lys)
c.386C>A (p.Thr129Lys)
c.1799C>A (p.Thr600Lys)
c.1934C>A (p.Thr645Lys)
c.1940C>A (p.Thr647Lys)
c.1856C>A (p.Thr619Lys)
c.1784C>A (p.Thr595Lys)
c.1718C>A (p.Thr573Lys)
c.1079C>A (p.Thr360Lys)
c.1697C>A (p.Thr566Lys)
9g.137776781C=CA1884666511EHMT1c.1955C= (p.Thr652=)
c.1841C= (p.Thr614=)
c.1862C= (p.Thr621=)
c.1995C= (n.1995C=)
c.1582C=
c.1124C= (p.Thr375=)
c.*1690C= (n.*1690C=)
c.812C= (p.Thr271=)
c.503C=
n.1668G=
c.1946C= (p.Thr649=)
c.1937C= (p.Thr646=)
c.1964C= (p.Thr655=)
c.1961C= (p.Thr654=)
c.1943C= (p.Thr648=)
c.1886C= (p.Thr629=)
c.1820C= (p.Thr607=)
c.386C= (p.Thr129=)
c.1799C= (p.Thr600=)
c.1934C= (p.Thr645=)
c.1940C= (p.Thr647=)
c.1856C= (p.Thr619=)
c.1784C= (p.Thr595=)
c.1718C= (p.Thr573=)
c.1079C= (p.Thr360=)
c.1697C= (p.Thr566=)
9g.137776781C>GCA375776748EHMT1c.1955C>G (p.Thr652Arg)
c.1841C>G (p.Thr614Arg)
c.1862C>G (p.Thr621Arg)
c.1995C>G (n.1995C>G)
c.1582C>G
c.1124C>G (p.Thr375Arg)
c.*1690C>G (n.*1690C>G)
c.812C>G (p.Thr271Arg)
c.503C>G
n.1668G>C
c.1946C>G (p.Thr649Arg)
c.1937C>G (p.Thr646Arg)
c.1964C>G (p.Thr655Arg)
c.1961C>G (p.Thr654Arg)
c.1943C>G (p.Thr648Arg)
c.1886C>G (p.Thr629Arg)
c.1820C>G (p.Thr607Arg)
c.386C>G (p.Thr129Arg)
c.1799C>G (p.Thr600Arg)
c.1934C>G (p.Thr645Arg)
c.1940C>G (p.Thr647Arg)
c.1856C>G (p.Thr619Arg)
c.1784C>G (p.Thr595Arg)
c.1718C>G (p.Thr573Arg)
c.1079C>G (p.Thr360Arg)
c.1697C>G (p.Thr566Arg)
9g.137776781C>TCA375776751EHMT1c.1955C>T (p.Thr652Ile)
c.1841C>T (p.Thr614Ile)
c.1862C>T (p.Thr621Ile)
c.1995C>T (n.1995C>T)
c.1582C>T
c.1124C>T (p.Thr375Ile)
c.*1690C>T (n.*1690C>T)
c.812C>T (p.Thr271Ile)
c.503C>T
n.1668G>A
c.1946C>T (p.Thr649Ile)
c.1937C>T (p.Thr646Ile)
c.1964C>T (p.Thr655Ile)
c.1961C>T (p.Thr654Ile)
c.1943C>T (p.Thr648Ile)
c.1886C>T (p.Thr629Ile)
c.1820C>T (p.Thr607Ile)
c.386C>T (p.Thr129Ile)
c.1799C>T (p.Thr600Ile)
c.1934C>T (p.Thr645Ile)
c.1940C>T (p.Thr647Ile)
c.1856C>T (p.Thr619Ile)
c.1784C>T (p.Thr595Ile)
c.1718C>T (p.Thr573Ile)
c.1079C>T (p.Thr360Ile)
c.1697C>T (p.Thr566Ile)
 dbSNP
9g.137776782A=CA1884666512EHMT1c.1956A= (p.Thr652=)
c.1842A= (p.Thr614=)
c.1863A= (p.Thr621=)
c.1996A= (n.1996A=)
c.1583A=
c.1125A= (p.Thr375=)
c.*1691A= (n.*1691A=)
c.813A= (p.Thr271=)
n.1667T=
c.1947A= (p.Thr649=)
c.1938A= (p.Thr646=)
c.1965A= (p.Thr655=)
c.1962A= (p.Thr654=)
c.1944A= (p.Thr648=)
c.1887A= (p.Thr629=)
c.1821A= (p.Thr607=)
c.387A= (p.Thr129=)
c.1800A= (p.Thr600=)
c.1935A= (p.Thr645=)
c.1941A= (p.Thr647=)
c.1857A= (p.Thr619=)
c.1785A= (p.Thr595=)
c.1719A= (p.Thr573=)
c.1080A= (p.Thr360=)
c.1698A= (p.Thr566=)
9g.137776782A>CCA467874127EHMT1c.1956A>C (p.Thr652=)
c.1842A>C (p.Thr614=)
c.1863A>C (p.Thr621=)
c.1996A>C (n.1996A>C)
c.1583A>C
c.1125A>C (p.Thr375=)
c.*1691A>C (n.*1691A>C)
c.813A>C (p.Thr271=)
n.1667T>G
c.1947A>C (p.Thr649=)
c.1938A>C (p.Thr646=)
c.1965A>C (p.Thr655=)
c.1962A>C (p.Thr654=)
c.1944A>C (p.Thr648=)
c.1887A>C (p.Thr629=)
c.1821A>C (p.Thr607=)
c.387A>C (p.Thr129=)
c.1800A>C (p.Thr600=)
c.1935A>C (p.Thr645=)
c.1941A>C (p.Thr647=)
c.1857A>C (p.Thr619=)
c.1785A>C (p.Thr595=)
c.1719A>C (p.Thr573=)
c.1080A>C (p.Thr360=)
c.1698A>C (p.Thr566=)
9g.137776782A>GCA5374762EHMT1c.1956A>G (p.Thr652=)
c.1842A>G (p.Thr614=)
c.1863A>G (p.Thr621=)
c.1996A>G (n.1996A>G)
c.1583A>G
c.1125A>G (p.Thr375=)
c.*1691A>G (n.*1691A>G)
c.813A>G (p.Thr271=)
n.1667T>C
c.1947A>G (p.Thr649=)
c.1938A>G (p.Thr646=)
c.1965A>G (p.Thr655=)
c.1962A>G (p.Thr654=)
c.1944A>G (p.Thr648=)
c.1887A>G (p.Thr629=)
c.1821A>G (p.Thr607=)
c.387A>G (p.Thr129=)
c.1800A>G (p.Thr600=)
c.1935A>G (p.Thr645=)
c.1941A>G (p.Thr647=)
c.1857A>G (p.Thr619=)
c.1785A>G (p.Thr595=)
c.1719A>G (p.Thr573=)
c.1080A>G (p.Thr360=)
c.1698A>G (p.Thr566=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137776782A>TCA467874126EHMT1c.1956A>T (p.Thr652=)
c.1842A>T (p.Thr614=)
c.1863A>T (p.Thr621=)
c.1996A>T (n.1996A>T)
c.1583A>T
c.1125A>T (p.Thr375=)
c.*1691A>T (n.*1691A>T)
c.813A>T (p.Thr271=)
n.1667T>A
c.1947A>T (p.Thr649=)
c.1938A>T (p.Thr646=)
c.1965A>T (p.Thr655=)
c.1962A>T (p.Thr654=)
c.1944A>T (p.Thr648=)
c.1887A>T (p.Thr629=)
c.1821A>T (p.Thr607=)
c.387A>T (p.Thr129=)
c.1800A>T (p.Thr600=)
c.1935A>T (p.Thr645=)
c.1941A>T (p.Thr647=)
c.1857A>T (p.Thr619=)
c.1785A>T (p.Thr595=)
c.1719A>T (p.Thr573=)
c.1080A>T (p.Thr360=)
c.1698A>T (p.Thr566=)
9g.137776783C>ACA375776760EHMT1c.1957C>A (p.Pro653Thr)
c.1843C>A (p.Pro615Thr)
c.1864C>A (p.Pro622Thr)
c.1997C>A (n.1997C>A)
c.1584C>A
c.1126C>A (p.Pro376Thr)
c.*1692C>A (n.*1692C>A)
c.814C>A (p.Pro272Thr)
n.1666G>T
c.1948C>A (p.Pro650Thr)
c.1939C>A (p.Pro647Thr)
c.1966C>A (p.Pro656Thr)
c.1963C>A (p.Pro655Thr)
c.1945C>A (p.Pro649Thr)
c.1888C>A (p.Pro630Thr)
c.1822C>A (p.Pro608Thr)
c.388C>A (p.Pro130Thr)
c.1801C>A (p.Pro601Thr)
c.1936C>A (p.Pro646Thr)
c.1942C>A (p.Pro648Thr)
c.1858C>A (p.Pro620Thr)
c.1786C>A (p.Pro596Thr)
c.1720C>A (p.Pro574Thr)
c.1081C>A (p.Pro361Thr)
c.1699C>A (p.Pro567Thr)
9g.137776783C>GCA375776765EHMT1c.1957C>G (p.Pro653Ala)
c.1843C>G (p.Pro615Ala)
c.1864C>G (p.Pro622Ala)
c.1997C>G (n.1997C>G)
c.1584C>G
c.1126C>G (p.Pro376Ala)
c.*1692C>G (n.*1692C>G)
c.814C>G (p.Pro272Ala)
n.1666G>C
c.1948C>G (p.Pro650Ala)
c.1939C>G (p.Pro647Ala)
c.1966C>G (p.Pro656Ala)
c.1963C>G (p.Pro655Ala)
c.1945C>G (p.Pro649Ala)
c.1888C>G (p.Pro630Ala)
c.1822C>G (p.Pro608Ala)
c.388C>G (p.Pro130Ala)
c.1801C>G (p.Pro601Ala)
c.1936C>G (p.Pro646Ala)
c.1942C>G (p.Pro648Ala)
c.1858C>G (p.Pro620Ala)
c.1786C>G (p.Pro596Ala)
c.1720C>G (p.Pro574Ala)
c.1081C>G (p.Pro361Ala)
c.1699C>G (p.Pro567Ala)
 ClinVar dbSNP gnomAD v4
9g.137776783C>TCA375776764EHMT1c.1957C>T (p.Pro653Ser)
c.1843C>T (p.Pro615Ser)
c.1864C>T (p.Pro622Ser)
c.1997C>T (n.1997C>T)
c.1584C>T
c.1126C>T (p.Pro376Ser)
c.*1692C>T (n.*1692C>T)
c.814C>T (p.Pro272Ser)
n.1666G>A
c.1948C>T (p.Pro650Ser)
c.1939C>T (p.Pro647Ser)
c.1966C>T (p.Pro656Ser)
c.1963C>T (p.Pro655Ser)
c.1945C>T (p.Pro649Ser)
c.1888C>T (p.Pro630Ser)
c.1822C>T (p.Pro608Ser)
c.388C>T (p.Pro130Ser)
c.1801C>T (p.Pro601Ser)
c.1936C>T (p.Pro646Ser)
c.1942C>T (p.Pro648Ser)
c.1858C>T (p.Pro620Ser)
c.1786C>T (p.Pro596Ser)
c.1720C>T (p.Pro574Ser)
c.1081C>T (p.Pro361Ser)
c.1699C>T (p.Pro567Ser)
9g.137776784C>ACA375776766EHMT1c.1958C>A (p.Pro653Gln)
c.1844C>A (p.Pro615Gln)
c.1865C>A (p.Pro622Gln)
c.1998C>A (n.1998C>A)
c.1585C>A
c.1127C>A (p.Pro376Gln)
c.*1693C>A (n.*1693C>A)
c.815C>A (p.Pro272Gln)
n.1665G>T
c.1949C>A (p.Pro650Gln)
c.1940C>A (p.Pro647Gln)
c.1967C>A (p.Pro656Gln)
c.1964C>A (p.Pro655Gln)
c.1946C>A (p.Pro649Gln)
c.1889C>A (p.Pro630Gln)
c.1823C>A (p.Pro608Gln)
c.389C>A (p.Pro130Gln)
c.1802C>A (p.Pro601Gln)
c.1937C>A (p.Pro646Gln)
c.1943C>A (p.Pro648Gln)
c.1859C>A (p.Pro620Gln)
c.1787C>A (p.Pro596Gln)
c.1721C>A (p.Pro574Gln)
c.1082C>A (p.Pro361Gln)
c.1700C>A (p.Pro567Gln)
9g.137776784C>GCA375776768EHMT1c.1958C>G (p.Pro653Arg)
c.1844C>G (p.Pro615Arg)
c.1865C>G (p.Pro622Arg)
c.1998C>G (n.1998C>G)
c.1585C>G
c.1127C>G (p.Pro376Arg)
c.*1693C>G (n.*1693C>G)
c.815C>G (p.Pro272Arg)
n.1665G>C
c.1949C>G (p.Pro650Arg)
c.1940C>G (p.Pro647Arg)
c.1967C>G (p.Pro656Arg)
c.1964C>G (p.Pro655Arg)
c.1946C>G (p.Pro649Arg)
c.1889C>G (p.Pro630Arg)
c.1823C>G (p.Pro608Arg)
c.389C>G (p.Pro130Arg)
c.1802C>G (p.Pro601Arg)
c.1937C>G (p.Pro646Arg)
c.1943C>G (p.Pro648Arg)
c.1859C>G (p.Pro620Arg)
c.1787C>G (p.Pro596Arg)
c.1721C>G (p.Pro574Arg)
c.1082C>G (p.Pro361Arg)
c.1700C>G (p.Pro567Arg)
9g.137776784C>TCA375776767EHMT1c.1958C>T (p.Pro653Leu)
c.1844C>T (p.Pro615Leu)
c.1865C>T (p.Pro622Leu)
c.1998C>T (n.1998C>T)
c.1585C>T
c.1127C>T (p.Pro376Leu)
c.*1693C>T (n.*1693C>T)
c.815C>T (p.Pro272Leu)
n.1665G>A
c.1949C>T (p.Pro650Leu)
c.1940C>T (p.Pro647Leu)
c.1967C>T (p.Pro656Leu)
c.1964C>T (p.Pro655Leu)
c.1946C>T (p.Pro649Leu)
c.1889C>T (p.Pro630Leu)
c.1823C>T (p.Pro608Leu)
c.389C>T (p.Pro130Leu)
c.1802C>T (p.Pro601Leu)
c.1937C>T (p.Pro646Leu)
c.1943C>T (p.Pro648Leu)
c.1859C>T (p.Pro620Leu)
c.1787C>T (p.Pro596Leu)
c.1721C>T (p.Pro574Leu)
c.1082C>T (p.Pro361Leu)
c.1700C>T (p.Pro567Leu)
 gnomAD v4
9g.137776785A=CA1884666513EHMT1c.1959A= (p.Pro653=)
c.1845A= (p.Pro615=)
c.1866A= (p.Pro622=)
c.1999A= (n.1999A=)
c.1586A=
c.1128A= (p.Pro376=)
c.*1694A= (n.*1694A=)
c.816A= (p.Pro272=)
n.1664T=
c.1950A= (p.Pro650=)
c.1941A= (p.Pro647=)
c.1968A= (p.Pro656=)
c.1965A= (p.Pro655=)
c.1947A= (p.Pro649=)
c.1890A= (p.Pro630=)
c.1824A= (p.Pro608=)
c.390A= (p.Pro130=)
c.1803A= (p.Pro601=)
c.1938A= (p.Pro646=)
c.1944A= (p.Pro648=)
c.1860A= (p.Pro620=)
c.1788A= (p.Pro596=)
c.1722A= (p.Pro574=)
c.1083A= (p.Pro361=)
c.1701A= (p.Pro567=)
9g.137776785A>CCA467874128EHMT1c.1959A>C (p.Pro653=)
c.1845A>C (p.Pro615=)
c.1866A>C (p.Pro622=)
c.1999A>C (n.1999A>C)
c.1586A>C
c.1128A>C (p.Pro376=)
c.*1694A>C (n.*1694A>C)
c.816A>C (p.Pro272=)
n.1664T>G
c.1950A>C (p.Pro650=)
c.1941A>C (p.Pro647=)
c.1968A>C (p.Pro656=)
c.1965A>C (p.Pro655=)
c.1947A>C (p.Pro649=)
c.1890A>C (p.Pro630=)
c.1824A>C (p.Pro608=)
c.390A>C (p.Pro130=)
c.1803A>C (p.Pro601=)
c.1938A>C (p.Pro646=)
c.1944A>C (p.Pro648=)
c.1860A>C (p.Pro620=)
c.1788A>C (p.Pro596=)
c.1722A>C (p.Pro574=)
c.1083A>C (p.Pro361=)
c.1701A>C (p.Pro567=)
9g.137776785A>GCA467874129EHMT1c.1959A>G (p.Pro653=)
c.1845A>G (p.Pro615=)
c.1866A>G (p.Pro622=)
c.1999A>G (n.1999A>G)
c.1586A>G
c.1128A>G (p.Pro376=)
c.*1694A>G (n.*1694A>G)
c.816A>G (p.Pro272=)
n.1664T>C
c.1950A>G (p.Pro650=)
c.1941A>G (p.Pro647=)
c.1968A>G (p.Pro656=)
c.1965A>G (p.Pro655=)
c.1947A>G (p.Pro649=)
c.1890A>G (p.Pro630=)
c.1824A>G (p.Pro608=)
c.390A>G (p.Pro130=)
c.1803A>G (p.Pro601=)
c.1938A>G (p.Pro646=)
c.1944A>G (p.Pro648=)
c.1860A>G (p.Pro620=)
c.1788A>G (p.Pro596=)
c.1722A>G (p.Pro574=)
c.1083A>G (p.Pro361=)
c.1701A>G (p.Pro567=)
9g.137776785A>TCA5374763EHMT1c.1959A>T (p.Pro653=)
c.1845A>T (p.Pro615=)
c.1866A>T (p.Pro622=)
c.1999A>T (n.1999A>T)
c.1586A>T
c.1128A>T (p.Pro376=)
c.*1694A>T (n.*1694A>T)
c.816A>T (p.Pro272=)
n.1664T>A
c.1950A>T (p.Pro650=)
c.1941A>T (p.Pro647=)
c.1968A>T (p.Pro656=)
c.1965A>T (p.Pro655=)
c.1947A>T (p.Pro649=)
c.1890A>T (p.Pro630=)
c.1824A>T (p.Pro608=)
c.390A>T (p.Pro130=)
c.1803A>T (p.Pro601=)
c.1938A>T (p.Pro646=)
c.1944A>T (p.Pro648=)
c.1860A>T (p.Pro620=)
c.1788A>T (p.Pro596=)
c.1722A>T (p.Pro574=)
c.1083A>T (p.Pro361=)
c.1701A>T (p.Pro567=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776786G>ACA375776771EHMT1c.1960G>A (p.Val654Ile)
c.1846G>A (p.Val616Ile)
c.1867G>A (p.Val623Ile)
c.2000G>A (n.2000G>A)
c.1587G>A
c.1129G>A (p.Val377Ile)
c.*1695G>A (n.*1695G>A)
c.817G>A (p.Val273Ile)
n.1663C>T
c.1951G>A (p.Val651Ile)
c.1942G>A (p.Val648Ile)
c.1969G>A (p.Val657Ile)
c.1966G>A (p.Val656Ile)
c.1948G>A (p.Val650Ile)
c.1891G>A (p.Val631Ile)
c.1825G>A (p.Val609Ile)
c.391G>A (p.Val131Ile)
c.1804G>A (p.Val602Ile)
c.1939G>A (p.Val647Ile)
c.1945G>A (p.Val649Ile)
c.1861G>A (p.Val621Ile)
c.1789G>A (p.Val597Ile)
c.1723G>A (p.Val575Ile)
c.1084G>A (p.Val362Ile)
c.1702G>A (p.Val568Ile)
9g.137776786G>CCA375776778EHMT1c.1960G>C (p.Val654Leu)
c.1846G>C (p.Val616Leu)
c.1867G>C (p.Val623Leu)
c.2000G>C (n.2000G>C)
c.1587G>C
c.1129G>C (p.Val377Leu)
c.*1695G>C (n.*1695G>C)
c.817G>C (p.Val273Leu)
n.1663C>G
c.1951G>C (p.Val651Leu)
c.1942G>C (p.Val648Leu)
c.1969G>C (p.Val657Leu)
c.1966G>C (p.Val656Leu)
c.1948G>C (p.Val650Leu)
c.1891G>C (p.Val631Leu)
c.1825G>C (p.Val609Leu)
c.391G>C (p.Val131Leu)
c.1804G>C (p.Val602Leu)
c.1939G>C (p.Val647Leu)
c.1945G>C (p.Val649Leu)
c.1861G>C (p.Val621Leu)
c.1789G>C (p.Val597Leu)
c.1723G>C (p.Val575Leu)
c.1084G>C (p.Val362Leu)
c.1702G>C (p.Val568Leu)
9g.137776786G>TCA375776779EHMT1c.1960G>T (p.Val654Phe)
c.1846G>T (p.Val616Phe)
c.1867G>T (p.Val623Phe)
c.2000G>T (n.2000G>T)
c.1587G>T
c.1129G>T (p.Val377Phe)
c.*1695G>T (n.*1695G>T)
c.817G>T (p.Val273Phe)
n.1663C>A
c.1951G>T (p.Val651Phe)
c.1942G>T (p.Val648Phe)
c.1969G>T (p.Val657Phe)
c.1966G>T (p.Val656Phe)
c.1948G>T (p.Val650Phe)
c.1891G>T (p.Val631Phe)
c.1825G>T (p.Val609Phe)
c.391G>T (p.Val131Phe)
c.1804G>T (p.Val602Phe)
c.1939G>T (p.Val647Phe)
c.1945G>T (p.Val649Phe)
c.1861G>T (p.Val621Phe)
c.1789G>T (p.Val597Phe)
c.1723G>T (p.Val575Phe)
c.1084G>T (p.Val362Phe)
c.1702G>T (p.Val568Phe)
9g.137776787T>ACA375776781EHMT1c.1961T>A (p.Val654Asp)
c.1847T>A (p.Val616Asp)
c.1868T>A (p.Val623Asp)
c.2001T>A (n.2001T>A)
c.1588T>A
c.1130T>A (p.Val377Asp)
c.*1696T>A (n.*1696T>A)
c.818T>A (p.Val273Asp)
n.1662A>T
c.1952T>A (p.Val651Asp)
c.1943T>A (p.Val648Asp)
c.1970T>A (p.Val657Asp)
c.1967T>A (p.Val656Asp)
c.1949T>A (p.Val650Asp)
c.1892T>A (p.Val631Asp)
c.1826T>A (p.Val609Asp)
c.392T>A (p.Val131Asp)
c.1805T>A (p.Val602Asp)
c.1940T>A (p.Val647Asp)
c.1946T>A (p.Val649Asp)
c.1862T>A (p.Val621Asp)
c.1790T>A (p.Val597Asp)
c.1724T>A (p.Val575Asp)
c.1085T>A (p.Val362Asp)
c.1703T>A (p.Val568Asp)
9g.137776787T>CCA375776783EHMT1c.1961T>C (p.Val654Ala)
c.1847T>C (p.Val616Ala)
c.1868T>C (p.Val623Ala)
c.2001T>C (n.2001T>C)
c.1588T>C
c.1130T>C (p.Val377Ala)
c.*1696T>C (n.*1696T>C)
c.818T>C (p.Val273Ala)
n.1662A>G
c.1952T>C (p.Val651Ala)
c.1943T>C (p.Val648Ala)
c.1970T>C (p.Val657Ala)
c.1967T>C (p.Val656Ala)
c.1949T>C (p.Val650Ala)
c.1892T>C (p.Val631Ala)
c.1826T>C (p.Val609Ala)
c.392T>C (p.Val131Ala)
c.1805T>C (p.Val602Ala)
c.1940T>C (p.Val647Ala)
c.1946T>C (p.Val649Ala)
c.1862T>C (p.Val621Ala)
c.1790T>C (p.Val597Ala)
c.1724T>C (p.Val575Ala)
c.1085T>C (p.Val362Ala)
c.1703T>C (p.Val568Ala)
9g.137776787T>GCA375776784EHMT1c.1961T>G (p.Val654Gly)
c.1847T>G (p.Val616Gly)
c.1868T>G (p.Val623Gly)
c.2001T>G (n.2001T>G)
c.1588T>G
c.1130T>G (p.Val377Gly)
c.*1696T>G (n.*1696T>G)
c.818T>G (p.Val273Gly)
n.1662A>C
c.1952T>G (p.Val651Gly)
c.1943T>G (p.Val648Gly)
c.1970T>G (p.Val657Gly)
c.1967T>G (p.Val656Gly)
c.1949T>G (p.Val650Gly)
c.1892T>G (p.Val631Gly)
c.1826T>G (p.Val609Gly)
c.392T>G (p.Val131Gly)
c.1805T>G (p.Val602Gly)
c.1940T>G (p.Val647Gly)
c.1946T>G (p.Val649Gly)
c.1862T>G (p.Val621Gly)
c.1790T>G (p.Val597Gly)
c.1724T>G (p.Val575Gly)
c.1085T>G (p.Val362Gly)
c.1703T>G (p.Val568Gly)
9g.137776788C>ACA5374764EHMT1c.1962C>A (p.Val654=)
c.1848C>A (p.Val616=)
c.1869C>A (p.Val623=)
c.2002C>A (n.2002C>A)
c.1589C>A
c.1131C>A (p.Val377=)
c.*1697C>A (n.*1697C>A)
c.819C>A (p.Val273=)
n.1661G>T
c.1953C>A (p.Val651=)
c.1944C>A (p.Val648=)
c.1971C>A (p.Val657=)
c.1968C>A (p.Val656=)
c.1950C>A (p.Val650=)
c.1893C>A (p.Val631=)
c.1827C>A (p.Val609=)
c.393C>A (p.Val131=)
c.1806C>A (p.Val602=)
c.1941C>A (p.Val647=)
c.1947C>A (p.Val649=)
c.1863C>A (p.Val621=)
c.1791C>A (p.Val597=)
c.1725C>A (p.Val575=)
c.1086C>A (p.Val362=)
c.1704C>A (p.Val568=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776788C=CA1884666514EHMT1c.1962C= (p.Val654=)
c.1848C= (p.Val616=)
c.1869C= (p.Val623=)
c.2002C= (n.2002C=)
c.1589C=
c.1131C= (p.Val377=)
c.*1697C= (n.*1697C=)
c.819C= (p.Val273=)
n.1661G=
c.1953C= (p.Val651=)
c.1944C= (p.Val648=)
c.1971C= (p.Val657=)
c.1968C= (p.Val656=)
c.1950C= (p.Val650=)
c.1893C= (p.Val631=)
c.1827C= (p.Val609=)
c.393C= (p.Val131=)
c.1806C= (p.Val602=)
c.1941C= (p.Val647=)
c.1947C= (p.Val649=)
c.1863C= (p.Val621=)
c.1791C= (p.Val597=)
c.1725C= (p.Val575=)
c.1086C= (p.Val362=)
c.1704C= (p.Val568=)
9g.137776788C>GCA467874130EHMT1c.1962C>G (p.Val654=)
c.1848C>G (p.Val616=)
c.1869C>G (p.Val623=)
c.2002C>G (n.2002C>G)
c.1589C>G
c.1131C>G (p.Val377=)
c.*1697C>G (n.*1697C>G)
c.819C>G (p.Val273=)
n.1661G>C
c.1953C>G (p.Val651=)
c.1944C>G (p.Val648=)
c.1971C>G (p.Val657=)
c.1968C>G (p.Val656=)
c.1950C>G (p.Val650=)
c.1893C>G (p.Val631=)
c.1827C>G (p.Val609=)
c.393C>G (p.Val131=)
c.1806C>G (p.Val602=)
c.1941C>G (p.Val647=)
c.1947C>G (p.Val649=)
c.1863C>G (p.Val621=)
c.1791C>G (p.Val597=)
c.1725C>G (p.Val575=)
c.1086C>G (p.Val362=)
c.1704C>G (p.Val568=)
 dbSNP gnomAD v3 gnomAD v4
9g.137776788C>TCA467874131EHMT1c.1962C>T (p.Val654=)
c.1848C>T (p.Val616=)
c.1869C>T (p.Val623=)
c.2002C>T (n.2002C>T)
c.1589C>T
c.1131C>T (p.Val377=)
c.*1697C>T (n.*1697C>T)
c.819C>T (p.Val273=)
n.1661G>A
c.1953C>T (p.Val651=)
c.1944C>T (p.Val648=)
c.1971C>T (p.Val657=)
c.1968C>T (p.Val656=)
c.1950C>T (p.Val650=)
c.1893C>T (p.Val631=)
c.1827C>T (p.Val609=)
c.393C>T (p.Val131=)
c.1806C>T (p.Val602=)
c.1941C>T (p.Val647=)
c.1947C>T (p.Val649=)
c.1863C>T (p.Val621=)
c.1791C>T (p.Val597=)
c.1725C>T (p.Val575=)
c.1086C>T (p.Val362=)
c.1704C>T (p.Val568=)
 ClinVar gnomAD v4
9g.137776789C>ACA375776789EHMT1c.1963C>A (p.Pro655Thr)
c.1849C>A (p.Pro617Thr)
c.1870C>A (p.Pro624Thr)
c.2003C>A (n.2003C>A)
c.1590C>A
c.1132C>A (p.Pro378Thr)
c.*1698C>A (n.*1698C>A)
c.820C>A (p.Pro274Thr)
n.1660G>T
c.1954C>A (p.Pro652Thr)
c.1945C>A (p.Pro649Thr)
c.1972C>A (p.Pro658Thr)
c.1969C>A (p.Pro657Thr)
c.1951C>A (p.Pro651Thr)
c.1894C>A (p.Pro632Thr)
c.1828C>A (p.Pro610Thr)
c.394C>A (p.Pro132Thr)
c.1807C>A (p.Pro603Thr)
c.1942C>A (p.Pro648Thr)
c.1948C>A (p.Pro650Thr)
c.1864C>A (p.Pro622Thr)
c.1792C>A (p.Pro598Thr)
c.1726C>A (p.Pro576Thr)
c.1087C>A (p.Pro363Thr)
c.1705C>A (p.Pro569Thr)
9g.137776789C=CA1884666515EHMT1c.1963C= (p.Pro655=)
c.1849C= (p.Pro617=)
c.1870C= (p.Pro624=)
c.2003C= (n.2003C=)
c.1590C=
c.1132C= (p.Pro378=)
c.*1698C= (n.*1698C=)
c.820C= (p.Pro274=)
n.1660G=
c.1954C= (p.Pro652=)
c.1945C= (p.Pro649=)
c.1972C= (p.Pro658=)
c.1969C= (p.Pro657=)
c.1951C= (p.Pro651=)
c.1894C= (p.Pro632=)
c.1828C= (p.Pro610=)
c.394C= (p.Pro132=)
c.1807C= (p.Pro603=)
c.1942C= (p.Pro648=)
c.1948C= (p.Pro650=)
c.1864C= (p.Pro622=)
c.1792C= (p.Pro598=)
c.1726C= (p.Pro576=)
c.1087C= (p.Pro363=)
c.1705C= (p.Pro569=)
9g.137776789C>GCA375776791EHMT1c.1963C>G (p.Pro655Ala)
c.1849C>G (p.Pro617Ala)
c.1870C>G (p.Pro624Ala)
c.2003C>G (n.2003C>G)
c.1590C>G
c.1132C>G (p.Pro378Ala)
c.*1698C>G (n.*1698C>G)
c.820C>G (p.Pro274Ala)
n.1660G>C
c.1954C>G (p.Pro652Ala)
c.1945C>G (p.Pro649Ala)
c.1972C>G (p.Pro658Ala)
c.1969C>G (p.Pro657Ala)
c.1951C>G (p.Pro651Ala)
c.1894C>G (p.Pro632Ala)
c.1828C>G (p.Pro610Ala)
c.394C>G (p.Pro132Ala)
c.1807C>G (p.Pro603Ala)
c.1942C>G (p.Pro648Ala)
c.1948C>G (p.Pro650Ala)
c.1864C>G (p.Pro622Ala)
c.1792C>G (p.Pro598Ala)
c.1726C>G (p.Pro576Ala)
c.1087C>G (p.Pro363Ala)
c.1705C>G (p.Pro569Ala)
9g.137776789C>TCA375776792EHMT1c.1963C>T (p.Pro655Ser)
c.1849C>T (p.Pro617Ser)
c.1870C>T (p.Pro624Ser)
c.2003C>T (n.2003C>T)
c.1590C>T
c.1132C>T (p.Pro378Ser)
c.*1698C>T (n.*1698C>T)
c.820C>T (p.Pro274Ser)
n.1660G>A
c.1954C>T (p.Pro652Ser)
c.1945C>T (p.Pro649Ser)
c.1972C>T (p.Pro658Ser)
c.1969C>T (p.Pro657Ser)
c.1951C>T (p.Pro651Ser)
c.1894C>T (p.Pro632Ser)
c.1828C>T (p.Pro610Ser)
c.394C>T (p.Pro132Ser)
c.1807C>T (p.Pro603Ser)
c.1942C>T (p.Pro648Ser)
c.1948C>T (p.Pro650Ser)
c.1864C>T (p.Pro622Ser)
c.1792C>T (p.Pro598Ser)
c.1726C>T (p.Pro576Ser)
c.1087C>T (p.Pro363Ser)
c.1705C>T (p.Pro569Ser)
 dbSNP gnomAD v4
9g.137776790C>ACA375776796EHMT1c.1964C>A (p.Pro655His)
c.1850C>A (p.Pro617His)
c.1871C>A (p.Pro624His)
c.2004C>A (n.2004C>A)
c.1591C>A
c.1133C>A (p.Pro378His)
c.*1699C>A (n.*1699C>A)
c.821C>A (p.Pro274His)
n.1659G>T
c.1955C>A (p.Pro652His)
c.1946C>A (p.Pro649His)
c.1973C>A (p.Pro658His)
c.1970C>A (p.Pro657His)
c.1952C>A (p.Pro651His)
c.1895C>A (p.Pro632His)
c.1829C>A (p.Pro610His)
c.395C>A (p.Pro132His)
c.1808C>A (p.Pro603His)
c.1943C>A (p.Pro648His)
c.1949C>A (p.Pro650His)
c.1865C>A (p.Pro622His)
c.1793C>A (p.Pro598His)
c.1727C>A (p.Pro576His)
c.1088C>A (p.Pro363His)
c.1706C>A (p.Pro569His)
9g.137776790C>GCA375776794EHMT1c.1964C>G (p.Pro655Arg)
c.1850C>G (p.Pro617Arg)
c.1871C>G (p.Pro624Arg)
c.2004C>G (n.2004C>G)
c.1591C>G
c.1133C>G (p.Pro378Arg)
c.*1699C>G (n.*1699C>G)
c.821C>G (p.Pro274Arg)
n.1659G>C
c.1955C>G (p.Pro652Arg)
c.1946C>G (p.Pro649Arg)
c.1973C>G (p.Pro658Arg)
c.1970C>G (p.Pro657Arg)
c.1952C>G (p.Pro651Arg)
c.1895C>G (p.Pro632Arg)
c.1829C>G (p.Pro610Arg)
c.395C>G (p.Pro132Arg)
c.1808C>G (p.Pro603Arg)
c.1943C>G (p.Pro648Arg)
c.1949C>G (p.Pro650Arg)
c.1865C>G (p.Pro622Arg)
c.1793C>G (p.Pro598Arg)
c.1727C>G (p.Pro576Arg)
c.1088C>G (p.Pro363Arg)
c.1706C>G (p.Pro569Arg)
9g.137776790C>TCA375776795EHMT1c.1964C>T (p.Pro655Leu)
c.1850C>T (p.Pro617Leu)
c.1871C>T (p.Pro624Leu)
c.2004C>T (n.2004C>T)
c.1591C>T
c.1133C>T (p.Pro378Leu)
c.*1699C>T (n.*1699C>T)
c.821C>T (p.Pro274Leu)
n.1659G>A
c.1955C>T (p.Pro652Leu)
c.1946C>T (p.Pro649Leu)
c.1973C>T (p.Pro658Leu)
c.1970C>T (p.Pro657Leu)
c.1952C>T (p.Pro651Leu)
c.1895C>T (p.Pro632Leu)
c.1829C>T (p.Pro610Leu)
c.395C>T (p.Pro132Leu)
c.1808C>T (p.Pro603Leu)
c.1943C>T (p.Pro648Leu)
c.1949C>T (p.Pro650Leu)
c.1865C>T (p.Pro622Leu)
c.1793C>T (p.Pro598Leu)
c.1727C>T (p.Pro576Leu)
c.1088C>T (p.Pro363Leu)
c.1706C>T (p.Pro569Leu)
 gnomAD v4
9g.137776791C>ACA467874132EHMT1c.1965C>A (p.Pro655=)
c.1851C>A (p.Pro617=)
c.1872C>A (p.Pro624=)
c.2005C>A (n.2005C>A)
c.1592C>A
c.1134C>A (p.Pro378=)
c.*1700C>A (n.*1700C>A)
c.822C>A (p.Pro274=)
n.1658G>T
c.1956C>A (p.Pro652=)
c.1947C>A (p.Pro649=)
c.1974C>A (p.Pro658=)
c.1971C>A (p.Pro657=)
c.1953C>A (p.Pro651=)
c.1896C>A (p.Pro632=)
c.1830C>A (p.Pro610=)
c.396C>A (p.Pro132=)
c.1809C>A (p.Pro603=)
c.1944C>A (p.Pro648=)
c.1950C>A (p.Pro650=)
c.1866C>A (p.Pro622=)
c.1794C>A (p.Pro598=)
c.1728C>A (p.Pro576=)
c.1089C>A (p.Pro363=)
c.1707C>A (p.Pro569=)
9g.137776791C=CA1884666516EHMT1c.1965C= (p.Pro655=)
c.1851C= (p.Pro617=)
c.1872C= (p.Pro624=)
c.2005C= (n.2005C=)
c.1592C=
c.1134C= (p.Pro378=)
c.*1700C= (n.*1700C=)
c.822C= (p.Pro274=)
n.1658G=
c.1956C= (p.Pro652=)
c.1947C= (p.Pro649=)
c.1974C= (p.Pro658=)
c.1971C= (p.Pro657=)
c.1953C= (p.Pro651=)
c.1896C= (p.Pro632=)
c.1830C= (p.Pro610=)
c.396C= (p.Pro132=)
c.1809C= (p.Pro603=)
c.1944C= (p.Pro648=)
c.1950C= (p.Pro650=)
c.1866C= (p.Pro622=)
c.1794C= (p.Pro598=)
c.1728C= (p.Pro576=)
c.1089C= (p.Pro363=)
c.1707C= (p.Pro569=)
9g.137776791C>GCA467874133EHMT1c.1965C>G (p.Pro655=)
c.1851C>G (p.Pro617=)
c.1872C>G (p.Pro624=)
c.2005C>G (n.2005C>G)
c.1592C>G
c.1134C>G (p.Pro378=)
c.*1700C>G (n.*1700C>G)
c.822C>G (p.Pro274=)
n.1658G>C
c.1956C>G (p.Pro652=)
c.1947C>G (p.Pro649=)
c.1974C>G (p.Pro658=)
c.1971C>G (p.Pro657=)
c.1953C>G (p.Pro651=)
c.1896C>G (p.Pro632=)
c.1830C>G (p.Pro610=)
c.396C>G (p.Pro132=)
c.1809C>G (p.Pro603=)
c.1944C>G (p.Pro648=)
c.1950C>G (p.Pro650=)
c.1866C>G (p.Pro622=)
c.1794C>G (p.Pro598=)
c.1728C>G (p.Pro576=)
c.1089C>G (p.Pro363=)
c.1707C>G (p.Pro569=)
9g.137776791C>TCA5374765EHMT1c.1965C>T (p.Pro655=)
c.1851C>T (p.Pro617=)
c.1872C>T (p.Pro624=)
c.2005C>T (n.2005C>T)
c.1592C>T
c.1134C>T (p.Pro378=)
c.*1700C>T (n.*1700C>T)
c.822C>T (p.Pro274=)
n.1658G>A
c.1956C>T (p.Pro652=)
c.1947C>T (p.Pro649=)
c.1974C>T (p.Pro658=)
c.1971C>T (p.Pro657=)
c.1953C>T (p.Pro651=)
c.1896C>T (p.Pro632=)
c.1830C>T (p.Pro610=)
c.396C>T (p.Pro132=)
c.1809C>T (p.Pro603=)
c.1944C>T (p.Pro648=)
c.1950C>T (p.Pro650=)
c.1866C>T (p.Pro622=)
c.1794C>T (p.Pro598=)
c.1728C>T (p.Pro576=)
c.1089C>T (p.Pro363=)
c.1707C>T (p.Pro569=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776792G>ACA201804164EHMT1c.1966G>A (p.Gly656Arg)
c.1852G>A (p.Gly618Arg)
c.1873G>A (p.Gly625Arg)
c.2006G>A (n.2006G>A)
c.1593G>A
c.1135G>A (p.Gly379Arg)
c.*1701G>A (n.*1701G>A)
c.823G>A (p.Gly275Arg)
n.1657C>T
c.1957G>A (p.Gly653Arg)
c.1948G>A (p.Gly650Arg)
c.1975G>A (p.Gly659Arg)
c.1972G>A (p.Gly658Arg)
c.1954G>A (p.Gly652Arg)
c.1897G>A (p.Gly633Arg)
c.1831G>A (p.Gly611Arg)
c.397G>A (p.Gly133Arg)
c.1810G>A (p.Gly604Arg)
c.1945G>A (p.Gly649Arg)
c.1951G>A (p.Gly651Arg)
c.1867G>A (p.Gly623Arg)
c.1795G>A (p.Gly599Arg)
c.1729G>A (p.Gly577Arg)
c.1090G>A (p.Gly364Arg)
c.1708G>A (p.Gly570Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137776792G>CCA375776800EHMT1c.1966G>C (p.Gly656Arg)
c.1852G>C (p.Gly618Arg)
c.1873G>C (p.Gly625Arg)
c.2006G>C (n.2006G>C)
c.1593G>C
c.1135G>C (p.Gly379Arg)
c.*1701G>C (n.*1701G>C)
c.823G>C (p.Gly275Arg)
n.1657C>G
c.1957G>C (p.Gly653Arg)
c.1948G>C (p.Gly650Arg)
c.1975G>C (p.Gly659Arg)
c.1972G>C (p.Gly658Arg)
c.1954G>C (p.Gly652Arg)
c.1897G>C (p.Gly633Arg)
c.1831G>C (p.Gly611Arg)
c.397G>C (p.Gly133Arg)
c.1810G>C (p.Gly604Arg)
c.1945G>C (p.Gly649Arg)
c.1951G>C (p.Gly651Arg)
c.1867G>C (p.Gly623Arg)
c.1795G>C (p.Gly599Arg)
c.1729G>C (p.Gly577Arg)
c.1090G>C (p.Gly364Arg)
c.1708G>C (p.Gly570Arg)
 ClinVar dbSNP
9g.137776792G=CA1884666517EHMT1c.1966G= (p.Gly656=)
c.1852G= (p.Gly618=)
c.1873G= (p.Gly625=)
c.2006G= (n.2006G=)
c.1593G=
c.1135G= (p.Gly379=)
c.*1701G= (n.*1701G=)
c.823G= (p.Gly275=)
n.1657C=
c.1957G= (p.Gly653=)
c.1948G= (p.Gly650=)
c.1975G= (p.Gly659=)
c.1972G= (p.Gly658=)
c.1954G= (p.Gly652=)
c.1897G= (p.Gly633=)
c.1831G= (p.Gly611=)
c.397G= (p.Gly133=)
c.1810G= (p.Gly604=)
c.1945G= (p.Gly649=)
c.1951G= (p.Gly651=)
c.1867G= (p.Gly623=)
c.1795G= (p.Gly599=)
c.1729G= (p.Gly577=)
c.1090G= (p.Gly364=)
c.1708G= (p.Gly570=)
9g.137776792G>TCA375776802EHMT1c.1966G>T (p.Gly656Trp)
c.1852G>T (p.Gly618Trp)
c.1873G>T (p.Gly625Trp)
c.2006G>T (n.2006G>T)
c.1593G>T
c.1135G>T (p.Gly379Trp)
c.*1701G>T (n.*1701G>T)
c.823G>T (p.Gly275Trp)
n.1657C>A
c.1957G>T (p.Gly653Trp)
c.1948G>T (p.Gly650Trp)
c.1975G>T (p.Gly659Trp)
c.1972G>T (p.Gly658Trp)
c.1954G>T (p.Gly652Trp)
c.1897G>T (p.Gly633Trp)
c.1831G>T (p.Gly611Trp)
c.397G>T (p.Gly133Trp)
c.1810G>T (p.Gly604Trp)
c.1945G>T (p.Gly649Trp)
c.1951G>T (p.Gly651Trp)
c.1867G>T (p.Gly623Trp)
c.1795G>T (p.Gly599Trp)
c.1729G>T (p.Gly577Trp)
c.1090G>T (p.Gly364Trp)
c.1708G>T (p.Gly570Trp)
9g.137776793G>ACA375776808EHMT1c.1967G>A (p.Gly656Glu)
c.1853G>A (p.Gly618Glu)
c.1874G>A (p.Gly625Glu)
c.2007G>A (n.2007G>A)
c.1594G>A
c.1136G>A (p.Gly379Glu)
c.*1702G>A (n.*1702G>A)
c.824G>A (p.Gly275Glu)
n.1656C>T
c.1958G>A (p.Gly653Glu)
c.1949G>A (p.Gly650Glu)
c.1976G>A (p.Gly659Glu)
c.1973G>A (p.Gly658Glu)
c.1955G>A (p.Gly652Glu)
c.1898G>A (p.Gly633Glu)
c.1832G>A (p.Gly611Glu)
c.398G>A (p.Gly133Glu)
c.1811G>A (p.Gly604Glu)
c.1946G>A (p.Gly649Glu)
c.1952G>A (p.Gly651Glu)
c.1868G>A (p.Gly623Glu)
c.1796G>A (p.Gly599Glu)
c.1730G>A (p.Gly577Glu)
c.1091G>A (p.Gly364Glu)
c.1709G>A (p.Gly570Glu)
9g.137776793G>CCA375776811EHMT1c.1967G>C (p.Gly656Ala)
c.1853G>C (p.Gly618Ala)
c.1874G>C (p.Gly625Ala)
c.2007G>C (n.2007G>C)
c.1594G>C
c.1136G>C (p.Gly379Ala)
c.*1702G>C (n.*1702G>C)
c.824G>C (p.Gly275Ala)
n.1656C>G
c.1958G>C (p.Gly653Ala)
c.1949G>C (p.Gly650Ala)
c.1976G>C (p.Gly659Ala)
c.1973G>C (p.Gly658Ala)
c.1955G>C (p.Gly652Ala)
c.1898G>C (p.Gly633Ala)
c.1832G>C (p.Gly611Ala)
c.398G>C (p.Gly133Ala)
c.1811G>C (p.Gly604Ala)
c.1946G>C (p.Gly649Ala)
c.1952G>C (p.Gly651Ala)
c.1868G>C (p.Gly623Ala)
c.1796G>C (p.Gly599Ala)
c.1730G>C (p.Gly577Ala)
c.1091G>C (p.Gly364Ala)
c.1709G>C (p.Gly570Ala)
9g.137776793G>TCA375776813EHMT1c.1967G>T (p.Gly656Val)
c.1853G>T (p.Gly618Val)
c.1874G>T (p.Gly625Val)
c.2007G>T (n.2007G>T)
c.1594G>T
c.1136G>T (p.Gly379Val)
c.*1702G>T (n.*1702G>T)
c.824G>T (p.Gly275Val)
n.1656C>A
c.1958G>T (p.Gly653Val)
c.1949G>T (p.Gly650Val)
c.1976G>T (p.Gly659Val)
c.1973G>T (p.Gly658Val)
c.1955G>T (p.Gly652Val)
c.1898G>T (p.Gly633Val)
c.1832G>T (p.Gly611Val)
c.398G>T (p.Gly133Val)
c.1811G>T (p.Gly604Val)
c.1946G>T (p.Gly649Val)
c.1952G>T (p.Gly651Val)
c.1868G>T (p.Gly623Val)
c.1796G>T (p.Gly599Val)
c.1730G>T (p.Gly577Val)
c.1091G>T (p.Gly364Val)
c.1709G>T (p.Gly570Val)
9g.137776794G>ACA467874134EHMT1c.1968G>A (p.Gly656=)
c.1854G>A (p.Gly618=)
c.1875G>A (p.Gly625=)
c.2008G>A (n.2008G>A)
c.1595G>A
c.1137G>A (p.Gly379=)
c.*1703G>A (n.*1703G>A)
c.825G>A (p.Gly275=)
n.1655C>T
c.1959G>A (p.Gly653=)
c.1950G>A (p.Gly650=)
c.1977G>A (p.Gly659=)
c.1974G>A (p.Gly658=)
c.1956G>A (p.Gly652=)
c.1899G>A (p.Gly633=)
c.1833G>A (p.Gly611=)
c.399G>A (p.Gly133=)
c.1812G>A (p.Gly604=)
c.1947G>A (p.Gly649=)
c.1953G>A (p.Gly651=)
c.1869G>A (p.Gly623=)
c.1797G>A (p.Gly599=)
c.1731G>A (p.Gly577=)
c.1092G>A (p.Gly364=)
c.1710G>A (p.Gly570=)
9g.137776794G>CCA467874135EHMT1c.1968G>C (p.Gly656=)
c.1854G>C (p.Gly618=)
c.1875G>C (p.Gly625=)
c.2008G>C (n.2008G>C)
c.1595G>C
c.1137G>C (p.Gly379=)
c.*1703G>C (n.*1703G>C)
c.825G>C (p.Gly275=)
n.1655C>G
c.1959G>C (p.Gly653=)
c.1950G>C (p.Gly650=)
c.1977G>C (p.Gly659=)
c.1974G>C (p.Gly658=)
c.1956G>C (p.Gly652=)
c.1899G>C (p.Gly633=)
c.1833G>C (p.Gly611=)
c.399G>C (p.Gly133=)
c.1812G>C (p.Gly604=)
c.1947G>C (p.Gly649=)
c.1953G>C (p.Gly651=)
c.1869G>C (p.Gly623=)
c.1797G>C (p.Gly599=)
c.1731G>C (p.Gly577=)
c.1092G>C (p.Gly364=)
c.1710G>C (p.Gly570=)
9g.137776794G>TCA467874136EHMT1c.1968G>T (p.Gly656=)
c.1854G>T (p.Gly618=)
c.1875G>T (p.Gly625=)
c.2008G>T (n.2008G>T)
c.1595G>T
c.1137G>T (p.Gly379=)
c.*1703G>T (n.*1703G>T)
c.825G>T (p.Gly275=)
n.1655C>A
c.1959G>T (p.Gly653=)
c.1950G>T (p.Gly650=)
c.1977G>T (p.Gly659=)
c.1974G>T (p.Gly658=)
c.1956G>T (p.Gly652=)
c.1899G>T (p.Gly633=)
c.1833G>T (p.Gly611=)
c.399G>T (p.Gly133=)
c.1812G>T (p.Gly604=)
c.1947G>T (p.Gly649=)
c.1953G>T (p.Gly651=)
c.1869G>T (p.Gly623=)
c.1797G>T (p.Gly599=)
c.1731G>T (p.Gly577=)
c.1092G>T (p.Gly364=)
c.1710G>T (p.Gly570=)
9g.137776795C>ACA375776815EHMT1c.1969C>A (p.Gln657Lys)
c.1855C>A (p.Gln619Lys)
c.1876C>A (p.Gln626Lys)
c.2009C>A (n.2009C>A)
c.1596C>A
c.1138C>A (p.Gln380Lys)
c.*1704C>A (n.*1704C>A)
c.826C>A (p.Gln276Lys)
n.1654G>T
c.1960C>A (p.Gln654Lys)
c.1951C>A (p.Gln651Lys)
c.1978C>A (p.Gln660Lys)
c.1975C>A (p.Gln659Lys)
c.1957C>A (p.Gln653Lys)
c.1900C>A (p.Gln634Lys)
c.1834C>A (p.Gln612Lys)
c.400C>A (p.Gln134Lys)
c.1813C>A (p.Gln605Lys)
c.1948C>A (p.Gln650Lys)
c.1954C>A (p.Gln652Lys)
c.1870C>A (p.Gln624Lys)
c.1798C>A (p.Gln600Lys)
c.1732C>A (p.Gln578Lys)
c.1093C>A (p.Gln365Lys)
c.1711C>A (p.Gln571Lys)
9g.137776795C>GCA375776816EHMT1c.1969C>G (p.Gln657Glu)
c.1855C>G (p.Gln619Glu)
c.1876C>G (p.Gln626Glu)
c.2009C>G (n.2009C>G)
c.1596C>G
c.1138C>G (p.Gln380Glu)
c.*1704C>G (n.*1704C>G)
c.826C>G (p.Gln276Glu)
n.1654G>C
c.1960C>G (p.Gln654Glu)
c.1951C>G (p.Gln651Glu)
c.1978C>G (p.Gln660Glu)
c.1975C>G (p.Gln659Glu)
c.1957C>G (p.Gln653Glu)
c.1900C>G (p.Gln634Glu)
c.1834C>G (p.Gln612Glu)
c.400C>G (p.Gln134Glu)
c.1813C>G (p.Gln605Glu)
c.1948C>G (p.Gln650Glu)
c.1954C>G (p.Gln652Glu)
c.1870C>G (p.Gln624Glu)
c.1798C>G (p.Gln600Glu)
c.1732C>G (p.Gln578Glu)
c.1093C>G (p.Gln365Glu)
c.1711C>G (p.Gln571Glu)
9g.137776795C>TCA375776817EHMT1c.1969C>T (p.Gln657Ter)
c.1855C>T (p.Gln619Ter)
c.1876C>T (p.Gln626Ter)
c.2009C>T (n.2009C>T)
c.1596C>T
c.1138C>T (p.Gln380Ter)
c.*1704C>T (n.*1704C>T)
c.826C>T (p.Gln276Ter)
n.1654G>A
c.1960C>T (p.Gln654Ter)
c.1951C>T (p.Gln651Ter)
c.1978C>T (p.Gln660Ter)
c.1975C>T (p.Gln659Ter)
c.1957C>T (p.Gln653Ter)
c.1900C>T (p.Gln634Ter)
c.1834C>T (p.Gln612Ter)
c.400C>T (p.Gln134Ter)
c.1813C>T (p.Gln605Ter)
c.1948C>T (p.Gln650Ter)
c.1954C>T (p.Gln652Ter)
c.1870C>T (p.Gln624Ter)
c.1798C>T (p.Gln600Ter)
c.1732C>T (p.Gln578Ter)
c.1093C>T (p.Gln365Ter)
c.1711C>T (p.Gln571Ter)
9g.137776796A>CCA375776819EHMT1c.1970A>C (p.Gln657Pro)
c.1856A>C (p.Gln619Pro)
c.1877A>C (p.Gln626Pro)
c.2010A>C (n.2010A>C)
c.1597A>C
c.1139A>C (p.Gln380Pro)
c.*1705A>C (n.*1705A>C)
c.827A>C (p.Gln276Pro)
n.1653T>G
c.1961A>C (p.Gln654Pro)
c.1952A>C (p.Gln651Pro)
c.1979A>C (p.Gln660Pro)
c.1976A>C (p.Gln659Pro)
c.1958A>C (p.Gln653Pro)
c.1901A>C (p.Gln634Pro)
c.1835A>C (p.Gln612Pro)
c.401A>C (p.Gln134Pro)
c.1814A>C (p.Gln605Pro)
c.1949A>C (p.Gln650Pro)
c.1955A>C (p.Gln652Pro)
c.1871A>C (p.Gln624Pro)
c.1799A>C (p.Gln600Pro)
c.1733A>C (p.Gln578Pro)
c.1094A>C (p.Gln365Pro)
c.1712A>C (p.Gln571Pro)
9g.137776796A>GCA375776821EHMT1c.1970A>G (p.Gln657Arg)
c.1856A>G (p.Gln619Arg)
c.1877A>G (p.Gln626Arg)
c.2010A>G (n.2010A>G)
c.1597A>G
c.1139A>G (p.Gln380Arg)
c.*1705A>G (n.*1705A>G)
c.827A>G (p.Gln276Arg)
n.1653T>C
c.1961A>G (p.Gln654Arg)
c.1952A>G (p.Gln651Arg)
c.1979A>G (p.Gln660Arg)
c.1976A>G (p.Gln659Arg)
c.1958A>G (p.Gln653Arg)
c.1901A>G (p.Gln634Arg)
c.1835A>G (p.Gln612Arg)
c.401A>G (p.Gln134Arg)
c.1814A>G (p.Gln605Arg)
c.1949A>G (p.Gln650Arg)
c.1955A>G (p.Gln652Arg)
c.1871A>G (p.Gln624Arg)
c.1799A>G (p.Gln600Arg)
c.1733A>G (p.Gln578Arg)
c.1094A>G (p.Gln365Arg)
c.1712A>G (p.Gln571Arg)
 gnomAD v4
9g.137776796A>TCA375776818EHMT1c.1970A>T (p.Gln657Leu)
c.1856A>T (p.Gln619Leu)
c.1877A>T (p.Gln626Leu)
c.2010A>T (n.2010A>T)
c.1597A>T
c.1139A>T (p.Gln380Leu)
c.*1705A>T (n.*1705A>T)
c.827A>T (p.Gln276Leu)
n.1653T>A
c.1961A>T (p.Gln654Leu)
c.1952A>T (p.Gln651Leu)
c.1979A>T (p.Gln660Leu)
c.1976A>T (p.Gln659Leu)
c.1958A>T (p.Gln653Leu)
c.1901A>T (p.Gln634Leu)
c.1835A>T (p.Gln612Leu)
c.401A>T (p.Gln134Leu)
c.1814A>T (p.Gln605Leu)
c.1949A>T (p.Gln650Leu)
c.1955A>T (p.Gln652Leu)
c.1871A>T (p.Gln624Leu)
c.1799A>T (p.Gln600Leu)
c.1733A>T (p.Gln578Leu)
c.1094A>T (p.Gln365Leu)
c.1712A>T (p.Gln571Leu)
9g.137776797G>ACA467874137EHMT1c.1971G>A (p.Gln657=)
c.1857G>A (p.Gln619=)
c.1878G>A (p.Gln626=)
c.2011G>A (n.2011G>A)
c.1598G>A
c.1140G>A (p.Gln380=)
c.*1706G>A (n.*1706G>A)
c.828G>A (p.Gln276=)
n.1652C>T
c.1962G>A (p.Gln654=)
c.1953G>A (p.Gln651=)
c.1980G>A (p.Gln660=)
c.1977G>A (p.Gln659=)
c.1959G>A (p.Gln653=)
c.1902G>A (p.Gln634=)
c.1836G>A (p.Gln612=)
c.402G>A (p.Gln134=)
c.1815G>A (p.Gln605=)
c.1950G>A (p.Gln650=)
c.1956G>A (p.Gln652=)
c.1872G>A (p.Gln624=)
c.1800G>A (p.Gln600=)
c.1734G>A (p.Gln578=)
c.1095G>A (p.Gln365=)
c.1713G>A (p.Gln571=)
9g.137776797G>CCA375776826EHMT1c.1971G>C (p.Gln657His)
c.1857G>C (p.Gln619His)
c.1878G>C (p.Gln626His)
c.2011G>C (n.2011G>C)
c.1598G>C
c.1140G>C (p.Gln380His)
c.*1706G>C (n.*1706G>C)
c.828G>C (p.Gln276His)
n.1652C>G
c.1962G>C (p.Gln654His)
c.1953G>C (p.Gln651His)
c.1980G>C (p.Gln660His)
c.1977G>C (p.Gln659His)
c.1959G>C (p.Gln653His)
c.1902G>C (p.Gln634His)
c.1836G>C (p.Gln612His)
c.402G>C (p.Gln134His)
c.1815G>C (p.Gln605His)
c.1950G>C (p.Gln650His)
c.1956G>C (p.Gln652His)
c.1872G>C (p.Gln624His)
c.1800G>C (p.Gln600His)
c.1734G>C (p.Gln578His)
c.1095G>C (p.Gln365His)
c.1713G>C (p.Gln571His)
9g.137776797G>TCA375776828EHMT1c.1971G>T (p.Gln657His)
c.1857G>T (p.Gln619His)
c.1878G>T (p.Gln626His)
c.2011G>T (n.2011G>T)
c.1598G>T
c.1140G>T (p.Gln380His)
c.*1706G>T (n.*1706G>T)
c.828G>T (p.Gln276His)
n.1652C>A
c.1962G>T (p.Gln654His)
c.1953G>T (p.Gln651His)
c.1980G>T (p.Gln660His)
c.1977G>T (p.Gln659His)
c.1959G>T (p.Gln653His)
c.1902G>T (p.Gln634His)
c.1836G>T (p.Gln612His)
c.402G>T (p.Gln134His)
c.1815G>T (p.Gln605His)
c.1950G>T (p.Gln650His)
c.1956G>T (p.Gln652His)
c.1872G>T (p.Gln624His)
c.1800G>T (p.Gln600His)
c.1734G>T (p.Gln578His)
c.1095G>T (p.Gln365His)
c.1713G>T (p.Gln571His)
9g.137776798G>ACA375776834EHMT1c.1972G>A (p.Glu658Lys)
c.1858G>A (p.Glu620Lys)
c.1879G>A (p.Glu627Lys)
c.2012G>A (n.2012G>A)
c.1599G>A
c.1141G>A (p.Glu381Lys)
c.*1707G>A (n.*1707G>A)
c.829G>A (p.Glu277Lys)
n.1651C>T
c.1963G>A (p.Glu655Lys)
c.1954G>A (p.Glu652Lys)
c.1981G>A (p.Glu661Lys)
c.1978G>A (p.Glu660Lys)
c.1960G>A (p.Glu654Lys)
c.1903G>A (p.Glu635Lys)
c.1837G>A (p.Glu613Lys)
c.403G>A (p.Glu135Lys)
c.1816G>A (p.Glu606Lys)
c.1951G>A (p.Glu651Lys)
c.1957G>A (p.Glu653Lys)
c.1873G>A (p.Glu625Lys)
c.1801G>A (p.Glu601Lys)
c.1735G>A (p.Glu579Lys)
c.1096G>A (p.Glu366Lys)
c.1714G>A (p.Glu572Lys)
9g.137776798G>CCA375776835EHMT1c.1972G>C (p.Glu658Gln)
c.1858G>C (p.Glu620Gln)
c.1879G>C (p.Glu627Gln)
c.2012G>C (n.2012G>C)
c.1599G>C
c.1141G>C (p.Glu381Gln)
c.*1707G>C (n.*1707G>C)
c.829G>C (p.Glu277Gln)
n.1651C>G
c.1963G>C (p.Glu655Gln)
c.1954G>C (p.Glu652Gln)
c.1981G>C (p.Glu661Gln)
c.1978G>C (p.Glu660Gln)
c.1960G>C (p.Glu654Gln)
c.1903G>C (p.Glu635Gln)
c.1837G>C (p.Glu613Gln)
c.403G>C (p.Glu135Gln)
c.1816G>C (p.Glu606Gln)
c.1951G>C (p.Glu651Gln)
c.1957G>C (p.Glu653Gln)
c.1873G>C (p.Glu625Gln)
c.1801G>C (p.Glu601Gln)
c.1735G>C (p.Glu579Gln)
c.1096G>C (p.Glu366Gln)
c.1714G>C (p.Glu572Gln)
9g.137776798G>TCA375776838EHMT1c.1972G>T (p.Glu658Ter)
c.1858G>T (p.Glu620Ter)
c.1879G>T (p.Glu627Ter)
c.2012G>T (n.2012G>T)
c.1599G>T
c.1141G>T (p.Glu381Ter)
c.*1707G>T (n.*1707G>T)
c.829G>T (p.Glu277Ter)
n.1651C>A
c.1963G>T (p.Glu655Ter)
c.1954G>T (p.Glu652Ter)
c.1981G>T (p.Glu661Ter)
c.1978G>T (p.Glu660Ter)
c.1960G>T (p.Glu654Ter)
c.1903G>T (p.Glu635Ter)
c.1837G>T (p.Glu613Ter)
c.403G>T (p.Glu135Ter)
c.1816G>T (p.Glu606Ter)
c.1951G>T (p.Glu651Ter)
c.1957G>T (p.Glu653Ter)
c.1873G>T (p.Glu625Ter)
c.1801G>T (p.Glu601Ter)
c.1735G>T (p.Glu579Ter)
c.1096G>T (p.Glu366Ter)
c.1714G>T (p.Glu572Ter)
9g.137776799A=CA1884666518EHMT1c.1973A= (p.Glu658=)
c.1859A= (p.Glu620=)
c.1880A= (p.Glu627=)
c.2013A= (n.2013A=)
c.1600A=
c.1142A= (p.Glu381=)
c.*1708A= (n.*1708A=)
c.830A= (p.Glu277=)
n.1650T=
c.1964A= (p.Glu655=)
c.1955A= (p.Glu652=)
c.1982A= (p.Glu661=)
c.1979A= (p.Glu660=)
c.1961A= (p.Glu654=)
c.1904A= (p.Glu635=)
c.1838A= (p.Glu613=)
c.404A= (p.Glu135=)
c.1817A= (p.Glu606=)
c.1952A= (p.Glu651=)
c.1958A= (p.Glu653=)
c.1874A= (p.Glu625=)
c.1802A= (p.Glu601=)
c.1736A= (p.Glu579=)
c.1097A= (p.Glu366=)
c.1715A= (p.Glu572=)
9g.137776799A>CCA375776849EHMT1c.1973A>C (p.Glu658Ala)
c.1859A>C (p.Glu620Ala)
c.1880A>C (p.Glu627Ala)
c.2013A>C (n.2013A>C)
c.1600A>C
c.1142A>C (p.Glu381Ala)
c.*1708A>C (n.*1708A>C)
c.830A>C (p.Glu277Ala)
n.1650T>G
c.1964A>C (p.Glu655Ala)
c.1955A>C (p.Glu652Ala)
c.1982A>C (p.Glu661Ala)
c.1979A>C (p.Glu660Ala)
c.1961A>C (p.Glu654Ala)
c.1904A>C (p.Glu635Ala)
c.1838A>C (p.Glu613Ala)
c.404A>C (p.Glu135Ala)
c.1817A>C (p.Glu606Ala)
c.1952A>C (p.Glu651Ala)
c.1958A>C (p.Glu653Ala)
c.1874A>C (p.Glu625Ala)
c.1802A>C (p.Glu601Ala)
c.1736A>C (p.Glu579Ala)
c.1097A>C (p.Glu366Ala)
c.1715A>C (p.Glu572Ala)
 gnomAD v4
9g.137776799A>GCA375776840EHMT1c.1973A>G (p.Glu658Gly)
c.1859A>G (p.Glu620Gly)
c.1880A>G (p.Glu627Gly)
c.2013A>G (n.2013A>G)
c.1600A>G
c.1142A>G (p.Glu381Gly)
c.*1708A>G (n.*1708A>G)
c.830A>G (p.Glu277Gly)
n.1650T>C
c.1964A>G (p.Glu655Gly)
c.1955A>G (p.Glu652Gly)
c.1982A>G (p.Glu661Gly)
c.1979A>G (p.Glu660Gly)
c.1961A>G (p.Glu654Gly)
c.1904A>G (p.Glu635Gly)
c.1838A>G (p.Glu613Gly)
c.404A>G (p.Glu135Gly)
c.1817A>G (p.Glu606Gly)
c.1952A>G (p.Glu651Gly)
c.1958A>G (p.Glu653Gly)
c.1874A>G (p.Glu625Gly)
c.1802A>G (p.Glu601Gly)
c.1736A>G (p.Glu579Gly)
c.1097A>G (p.Glu366Gly)
c.1715A>G (p.Glu572Gly)
 ClinVar dbSNP
9g.137776799A>TCA375776846EHMT1c.1973A>T (p.Glu658Val)
c.1859A>T (p.Glu620Val)
c.1880A>T (p.Glu627Val)
c.2013A>T (n.2013A>T)
c.1600A>T
c.1142A>T (p.Glu381Val)
c.*1708A>T (n.*1708A>T)
c.830A>T (p.Glu277Val)
n.1650T>A
c.1964A>T (p.Glu655Val)
c.1955A>T (p.Glu652Val)
c.1982A>T (p.Glu661Val)
c.1979A>T (p.Glu660Val)
c.1961A>T (p.Glu654Val)
c.1904A>T (p.Glu635Val)
c.1838A>T (p.Glu613Val)
c.404A>T (p.Glu135Val)
c.1817A>T (p.Glu606Val)
c.1952A>T (p.Glu651Val)
c.1958A>T (p.Glu653Val)
c.1874A>T (p.Glu625Val)
c.1802A>T (p.Glu601Val)
c.1736A>T (p.Glu579Val)
c.1097A>T (p.Glu366Val)
c.1715A>T (p.Glu572Val)
9g.137776800G>ACA467874138EHMT1c.1974G>A (p.Glu658=)
c.1860G>A (p.Glu620=)
c.1881G>A (p.Glu627=)
c.2014G>A (n.2014G>A)
c.1601G>A
c.1143G>A (p.Glu381=)
c.*1709G>A (n.*1709G>A)
c.831G>A (p.Glu277=)
n.1649C>T
c.1965G>A (p.Glu655=)
c.1956G>A (p.Glu652=)
c.1983G>A (p.Glu661=)
c.1980G>A (p.Glu660=)
c.1962G>A (p.Glu654=)
c.1905G>A (p.Glu635=)
c.1839G>A (p.Glu613=)
c.405G>A (p.Glu135=)
c.1818G>A (p.Glu606=)
c.1953G>A (p.Glu651=)
c.1959G>A (p.Glu653=)
c.1875G>A (p.Glu625=)
c.1803G>A (p.Glu601=)
c.1737G>A (p.Glu579=)
c.1098G>A (p.Glu366=)
c.1716G>A (p.Glu572=)
9g.137776800G>CCA375776850EHMT1c.1974G>C (p.Glu658Asp)
c.1860G>C (p.Glu620Asp)
c.1881G>C (p.Glu627Asp)
c.2014G>C (n.2014G>C)
c.1601G>C
c.1143G>C (p.Glu381Asp)
c.*1709G>C (n.*1709G>C)
c.831G>C (p.Glu277Asp)
n.1649C>G
c.1965G>C (p.Glu655Asp)
c.1956G>C (p.Glu652Asp)
c.1983G>C (p.Glu661Asp)
c.1980G>C (p.Glu660Asp)
c.1962G>C (p.Glu654Asp)
c.1905G>C (p.Glu635Asp)
c.1839G>C (p.Glu613Asp)
c.405G>C (p.Glu135Asp)
c.1818G>C (p.Glu606Asp)
c.1953G>C (p.Glu651Asp)
c.1959G>C (p.Glu653Asp)
c.1875G>C (p.Glu625Asp)
c.1803G>C (p.Glu601Asp)
c.1737G>C (p.Glu579Asp)
c.1098G>C (p.Glu366Asp)
c.1716G>C (p.Glu572Asp)
9g.137776800G>TCA375776851EHMT1c.1974G>T (p.Glu658Asp)
c.1860G>T (p.Glu620Asp)
c.1881G>T (p.Glu627Asp)
c.2014G>T (n.2014G>T)
c.1601G>T
c.1143G>T (p.Glu381Asp)
c.*1709G>T (n.*1709G>T)
c.831G>T (p.Glu277Asp)
n.1649C>A
c.1965G>T (p.Glu655Asp)
c.1956G>T (p.Glu652Asp)
c.1983G>T (p.Glu661Asp)
c.1980G>T (p.Glu660Asp)
c.1962G>T (p.Glu654Asp)
c.1905G>T (p.Glu635Asp)
c.1839G>T (p.Glu613Asp)
c.405G>T (p.Glu135Asp)
c.1818G>T (p.Glu606Asp)
c.1953G>T (p.Glu651Asp)
c.1959G>T (p.Glu653Asp)
c.1875G>T (p.Glu625Asp)
c.1803G>T (p.Glu601Asp)
c.1737G>T (p.Glu579Asp)
c.1098G>T (p.Glu366Asp)
c.1716G>T (p.Glu572Asp)
9g.137776801A>CCA375776852EHMT1c.1975A>C (p.Lys659Gln)
c.1861A>C (p.Lys621Gln)
c.1882A>C (p.Lys628Gln)
c.2015A>C (n.2015A>C)
c.1602A>C
c.1144A>C (p.Lys382Gln)
c.*1710A>C (n.*1710A>C)
c.832A>C (p.Lys278Gln)
n.1648T>G
c.1966A>C (p.Lys656Gln)
c.1957A>C (p.Lys653Gln)
c.1984A>C (p.Lys662Gln)
c.1981A>C (p.Lys661Gln)
c.1963A>C (p.Lys655Gln)
c.1906A>C (p.Lys636Gln)
c.1840A>C (p.Lys614Gln)
c.406A>C (p.Lys136Gln)
c.1819A>C (p.Lys607Gln)
c.1954A>C (p.Lys652Gln)
c.1960A>C (p.Lys654Gln)
c.1876A>C (p.Lys626Gln)
c.1804A>C (p.Lys602Gln)
c.1738A>C (p.Lys580Gln)
c.1099A>C (p.Lys367Gln)
c.1717A>C (p.Lys573Gln)
9g.137776801A>GCA375776853EHMT1c.1975A>G (p.Lys659Glu)
c.1861A>G (p.Lys621Glu)
c.1882A>G (p.Lys628Glu)
c.2015A>G (n.2015A>G)
c.1602A>G
c.1144A>G (p.Lys382Glu)
c.*1710A>G (n.*1710A>G)
c.832A>G (p.Lys278Glu)
n.1648T>C
c.1966A>G (p.Lys656Glu)
c.1957A>G (p.Lys653Glu)
c.1984A>G (p.Lys662Glu)
c.1981A>G (p.Lys661Glu)
c.1963A>G (p.Lys655Glu)
c.1906A>G (p.Lys636Glu)
c.1840A>G (p.Lys614Glu)
c.406A>G (p.Lys136Glu)
c.1819A>G (p.Lys607Glu)
c.1954A>G (p.Lys652Glu)
c.1960A>G (p.Lys654Glu)
c.1876A>G (p.Lys626Glu)
c.1804A>G (p.Lys602Glu)
c.1738A>G (p.Lys580Glu)
c.1099A>G (p.Lys367Glu)
c.1717A>G (p.Lys573Glu)
 ClinVar
9g.137776801A>TCA375776855EHMT1c.1975A>T (p.Lys659Ter)
c.1861A>T (p.Lys621Ter)
c.1882A>T (p.Lys628Ter)
c.2015A>T (n.2015A>T)
c.1602A>T
c.1144A>T (p.Lys382Ter)
c.*1710A>T (n.*1710A>T)
c.832A>T (p.Lys278Ter)
n.1648T>A
c.1966A>T (p.Lys656Ter)
c.1957A>T (p.Lys653Ter)
c.1984A>T (p.Lys662Ter)
c.1981A>T (p.Lys661Ter)
c.1963A>T (p.Lys655Ter)
c.1906A>T (p.Lys636Ter)
c.1840A>T (p.Lys614Ter)
c.406A>T (p.Lys136Ter)
c.1819A>T (p.Lys607Ter)
c.1954A>T (p.Lys652Ter)
c.1960A>T (p.Lys654Ter)
c.1876A>T (p.Lys626Ter)
c.1804A>T (p.Lys602Ter)
c.1738A>T (p.Lys580Ter)
c.1099A>T (p.Lys367Ter)
c.1717A>T (p.Lys573Ter)
9g.137776802A=CA1884666519EHMT1c.1976A= (p.Lys659=)
c.1862A= (p.Lys621=)
c.1883A= (p.Lys628=)
c.2016A= (n.2016A=)
c.1603A=
c.1145A= (p.Lys382=)
c.*1711A= (n.*1711A=)
c.833A= (p.Lys278=)
n.1647T=
c.1967A= (p.Lys656=)
c.1958A= (p.Lys653=)
c.1985A= (p.Lys662=)
c.1982A= (p.Lys661=)
c.1964A= (p.Lys655=)
c.1907A= (p.Lys636=)
c.1841A= (p.Lys614=)
c.407A= (p.Lys136=)
c.1820A= (p.Lys607=)
c.1955A= (p.Lys652=)
c.1961A= (p.Lys654=)
c.1877A= (p.Lys626=)
c.1805A= (p.Lys602=)
c.1739A= (p.Lys580=)
c.1100A= (p.Lys367=)
c.1718A= (p.Lys573=)
9g.137776802A>CCA375776862EHMT1c.1976A>C (p.Lys659Thr)
c.1862A>C (p.Lys621Thr)
c.1883A>C (p.Lys628Thr)
c.2016A>C (n.2016A>C)
c.1603A>C
c.1145A>C (p.Lys382Thr)
c.*1711A>C (n.*1711A>C)
c.833A>C (p.Lys278Thr)
n.1647T>G
c.1967A>C (p.Lys656Thr)
c.1958A>C (p.Lys653Thr)
c.1985A>C (p.Lys662Thr)
c.1982A>C (p.Lys661Thr)
c.1964A>C (p.Lys655Thr)
c.1907A>C (p.Lys636Thr)
c.1841A>C (p.Lys614Thr)
c.407A>C (p.Lys136Thr)
c.1820A>C (p.Lys607Thr)
c.1955A>C (p.Lys652Thr)
c.1961A>C (p.Lys654Thr)
c.1877A>C (p.Lys626Thr)
c.1805A>C (p.Lys602Thr)
c.1739A>C (p.Lys580Thr)
c.1100A>C (p.Lys367Thr)
c.1718A>C (p.Lys573Thr)
 gnomAD v4
9g.137776802A>GCA375776873EHMT1c.1976A>G (p.Lys659Arg)
c.1862A>G (p.Lys621Arg)
c.1883A>G (p.Lys628Arg)
c.2016A>G (n.2016A>G)
c.1603A>G
c.1145A>G (p.Lys382Arg)
c.*1711A>G (n.*1711A>G)
c.833A>G (p.Lys278Arg)
n.1647T>C
c.1967A>G (p.Lys656Arg)
c.1958A>G (p.Lys653Arg)
c.1985A>G (p.Lys662Arg)
c.1982A>G (p.Lys661Arg)
c.1964A>G (p.Lys655Arg)
c.1907A>G (p.Lys636Arg)
c.1841A>G (p.Lys614Arg)
c.407A>G (p.Lys136Arg)
c.1820A>G (p.Lys607Arg)
c.1955A>G (p.Lys652Arg)
c.1961A>G (p.Lys654Arg)
c.1877A>G (p.Lys626Arg)
c.1805A>G (p.Lys602Arg)
c.1739A>G (p.Lys580Arg)
c.1100A>G (p.Lys367Arg)
c.1718A>G (p.Lys573Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137776802A>TCA375776870EHMT1c.1976A>T (p.Lys659Met)
c.1862A>T (p.Lys621Met)
c.1883A>T (p.Lys628Met)
c.2016A>T (n.2016A>T)
c.1603A>T
c.1145A>T (p.Lys382Met)
c.*1711A>T (n.*1711A>T)
c.833A>T (p.Lys278Met)
n.1647T>A
c.1967A>T (p.Lys656Met)
c.1958A>T (p.Lys653Met)
c.1985A>T (p.Lys662Met)
c.1982A>T (p.Lys661Met)
c.1964A>T (p.Lys655Met)
c.1907A>T (p.Lys636Met)
c.1841A>T (p.Lys614Met)
c.407A>T (p.Lys136Met)
c.1820A>T (p.Lys607Met)
c.1955A>T (p.Lys652Met)
c.1961A>T (p.Lys654Met)
c.1877A>T (p.Lys626Met)
c.1805A>T (p.Lys602Met)
c.1739A>T (p.Lys580Met)
c.1100A>T (p.Lys367Met)
c.1718A>T (p.Lys573Met)
9g.137776803G>ACA467874139EHMT1c.1977G>A (p.Lys659=)
c.1863G>A (p.Lys621=)
c.1884G>A (p.Lys628=)
c.2017G>A (n.2017G>A)
c.1604G>A
c.1146G>A (p.Lys382=)
c.*1712G>A (n.*1712G>A)
c.834G>A (p.Lys278=)
n.1646C>T
c.1968G>A (p.Lys656=)
c.1959G>A (p.Lys653=)
c.1986G>A (p.Lys662=)
c.1983G>A (p.Lys661=)
c.1965G>A (p.Lys655=)
c.1908G>A (p.Lys636=)
c.1842G>A (p.Lys614=)
c.408G>A (p.Lys136=)
c.1821G>A (p.Lys607=)
c.1956G>A (p.Lys652=)
c.1962G>A (p.Lys654=)
c.1878G>A (p.Lys626=)
c.1806G>A (p.Lys602=)
c.1740G>A (p.Lys580=)
c.1101G>A (p.Lys367=)
c.1719G>A (p.Lys573=)
9g.137776803G>CCA375776874EHMT1c.1977G>C (p.Lys659Asn)
c.1863G>C (p.Lys621Asn)
c.1884G>C (p.Lys628Asn)
c.2017G>C (n.2017G>C)
c.1604G>C
c.1146G>C (p.Lys382Asn)
c.*1712G>C (n.*1712G>C)
c.834G>C (p.Lys278Asn)
n.1646C>G
c.1968G>C (p.Lys656Asn)
c.1959G>C (p.Lys653Asn)
c.1986G>C (p.Lys662Asn)
c.1983G>C (p.Lys661Asn)
c.1965G>C (p.Lys655Asn)
c.1908G>C (p.Lys636Asn)
c.1842G>C (p.Lys614Asn)
c.408G>C (p.Lys136Asn)
c.1821G>C (p.Lys607Asn)
c.1956G>C (p.Lys652Asn)
c.1962G>C (p.Lys654Asn)
c.1878G>C (p.Lys626Asn)
c.1806G>C (p.Lys602Asn)
c.1740G>C (p.Lys580Asn)
c.1101G>C (p.Lys367Asn)
c.1719G>C (p.Lys573Asn)
9g.137776803G>TCA375776875EHMT1c.1977G>T (p.Lys659Asn)
c.1863G>T (p.Lys621Asn)
c.1884G>T (p.Lys628Asn)
c.2017G>T (n.2017G>T)
c.1604G>T
c.1146G>T (p.Lys382Asn)
c.*1712G>T (n.*1712G>T)
c.834G>T (p.Lys278Asn)
n.1646C>A
c.1968G>T (p.Lys656Asn)
c.1959G>T (p.Lys653Asn)
c.1986G>T (p.Lys662Asn)
c.1983G>T (p.Lys661Asn)
c.1965G>T (p.Lys655Asn)
c.1908G>T (p.Lys636Asn)
c.1842G>T (p.Lys614Asn)
c.408G>T (p.Lys136Asn)
c.1821G>T (p.Lys607Asn)
c.1956G>T (p.Lys652Asn)
c.1962G>T (p.Lys654Asn)
c.1878G>T (p.Lys626Asn)
c.1806G>T (p.Lys602Asn)
c.1740G>T (p.Lys580Asn)
c.1101G>T (p.Lys367Asn)
c.1719G>T (p.Lys573Asn)
9g.137776804G>ACA375776876EHMT1c.1978G>A (p.Gly660Ser)
c.1864G>A (p.Gly622Ser)
c.1885G>A (p.Gly629Ser)
c.2018G>A (n.2018G>A)
c.1605G>A
c.1147G>A (p.Gly383Ser)
c.*1713G>A (n.*1713G>A)
c.835G>A (p.Gly279Ser)
n.1645C>T
c.1969G>A (p.Gly657Ser)
c.1960G>A (p.Gly654Ser)
c.1987G>A (p.Gly663Ser)
c.1984G>A (p.Gly662Ser)
c.1966G>A (p.Gly656Ser)
c.1909G>A (p.Gly637Ser)
c.1843G>A (p.Gly615Ser)
c.409G>A (p.Gly137Ser)
c.1822G>A (p.Gly608Ser)
c.1957G>A (p.Gly653Ser)
c.1963G>A (p.Gly655Ser)
c.1879G>A (p.Gly627Ser)
c.1807G>A (p.Gly603Ser)
c.1741G>A (p.Gly581Ser)
c.1102G>A (p.Gly368Ser)
c.1720G>A (p.Gly574Ser)
9g.137776804G>CCA375776877EHMT1c.1978G>C (p.Gly660Arg)
c.1864G>C (p.Gly622Arg)
c.1885G>C (p.Gly629Arg)
c.2018G>C (n.2018G>C)
c.1605G>C
c.1147G>C (p.Gly383Arg)
c.*1713G>C (n.*1713G>C)
c.835G>C (p.Gly279Arg)
n.1645C>G
c.1969G>C (p.Gly657Arg)
c.1960G>C (p.Gly654Arg)
c.1987G>C (p.Gly663Arg)
c.1984G>C (p.Gly662Arg)
c.1966G>C (p.Gly656Arg)
c.1909G>C (p.Gly637Arg)
c.1843G>C (p.Gly615Arg)
c.409G>C (p.Gly137Arg)
c.1822G>C (p.Gly608Arg)
c.1957G>C (p.Gly653Arg)
c.1963G>C (p.Gly655Arg)
c.1879G>C (p.Gly627Arg)
c.1807G>C (p.Gly603Arg)
c.1741G>C (p.Gly581Arg)
c.1102G>C (p.Gly368Arg)
c.1720G>C (p.Gly574Arg)
9g.137776804G>TCA375776878EHMT1c.1978G>T (p.Gly660Cys)
c.1864G>T (p.Gly622Cys)
c.1885G>T (p.Gly629Cys)
c.2018G>T (n.2018G>T)
c.1605G>T
c.1147G>T (p.Gly383Cys)
c.*1713G>T (n.*1713G>T)
c.835G>T (p.Gly279Cys)
n.1645C>A
c.1969G>T (p.Gly657Cys)
c.1960G>T (p.Gly654Cys)
c.1987G>T (p.Gly663Cys)
c.1984G>T (p.Gly662Cys)
c.1966G>T (p.Gly656Cys)
c.1909G>T (p.Gly637Cys)
c.1843G>T (p.Gly615Cys)
c.409G>T (p.Gly137Cys)
c.1822G>T (p.Gly608Cys)
c.1957G>T (p.Gly653Cys)
c.1963G>T (p.Gly655Cys)
c.1879G>T (p.Gly627Cys)
c.1807G>T (p.Gly603Cys)
c.1741G>T (p.Gly581Cys)
c.1102G>T (p.Gly368Cys)
c.1720G>T (p.Gly574Cys)
9g.137776805G>ACA375776879EHMT1c.1979G>A (p.Gly660Asp)
c.1865G>A (p.Gly622Asp)
c.1886G>A (p.Gly629Asp)
c.2019G>A (n.2019G>A)
c.1606G>A
c.1148G>A (p.Gly383Asp)
c.*1714G>A (n.*1714G>A)
c.836G>A (p.Gly279Asp)
n.1644C>T
c.1970G>A (p.Gly657Asp)
c.1961G>A (p.Gly654Asp)
c.1988G>A (p.Gly663Asp)
c.1985G>A (p.Gly662Asp)
c.1967G>A (p.Gly656Asp)
c.1910G>A (p.Gly637Asp)
c.1844G>A (p.Gly615Asp)
c.410G>A (p.Gly137Asp)
c.1823G>A (p.Gly608Asp)
c.1958G>A (p.Gly653Asp)
c.1964G>A (p.Gly655Asp)
c.1880G>A (p.Gly627Asp)
c.1808G>A (p.Gly603Asp)
c.1742G>A (p.Gly581Asp)
c.1103G>A (p.Gly368Asp)
c.1721G>A (p.Gly574Asp)
9g.137776805G>CCA375776881EHMT1c.1979G>C (p.Gly660Ala)
c.1865G>C (p.Gly622Ala)
c.1886G>C (p.Gly629Ala)
c.2019G>C (n.2019G>C)
c.1606G>C
c.1148G>C (p.Gly383Ala)
c.*1714G>C (n.*1714G>C)
c.836G>C (p.Gly279Ala)
n.1644C>G
c.1970G>C (p.Gly657Ala)
c.1961G>C (p.Gly654Ala)
c.1988G>C (p.Gly663Ala)
c.1985G>C (p.Gly662Ala)
c.1967G>C (p.Gly656Ala)
c.1910G>C (p.Gly637Ala)
c.1844G>C (p.Gly615Ala)
c.410G>C (p.Gly137Ala)
c.1823G>C (p.Gly608Ala)
c.1958G>C (p.Gly653Ala)
c.1964G>C (p.Gly655Ala)
c.1880G>C (p.Gly627Ala)
c.1808G>C (p.Gly603Ala)
c.1742G>C (p.Gly581Ala)
c.1103G>C (p.Gly368Ala)
c.1721G>C (p.Gly574Ala)
9g.137776805G>TCA375776883EHMT1c.1979G>T (p.Gly660Val)
c.1865G>T (p.Gly622Val)
c.1886G>T (p.Gly629Val)
c.2019G>T (n.2019G>T)
c.1606G>T
c.1148G>T (p.Gly383Val)
c.*1714G>T (n.*1714G>T)
c.836G>T (p.Gly279Val)
n.1644C>A
c.1970G>T (p.Gly657Val)
c.1961G>T (p.Gly654Val)
c.1988G>T (p.Gly663Val)
c.1985G>T (p.Gly662Val)
c.1967G>T (p.Gly656Val)
c.1910G>T (p.Gly637Val)
c.1844G>T (p.Gly615Val)
c.410G>T (p.Gly137Val)
c.1823G>T (p.Gly608Val)
c.1958G>T (p.Gly653Val)
c.1964G>T (p.Gly655Val)
c.1880G>T (p.Gly627Val)
c.1808G>T (p.Gly603Val)
c.1742G>T (p.Gly581Val)
c.1103G>T (p.Gly368Val)
c.1721G>T (p.Gly574Val)
9g.137776806C>ACA467874140EHMT1c.1980C>A (p.Gly660=)
c.1866C>A (p.Gly622=)
c.1887C>A (p.Gly629=)
c.2020C>A (n.2020C>A)
c.1607C>A
c.1149C>A (p.Gly383=)
c.*1715C>A (n.*1715C>A)
c.837C>A (p.Gly279=)
n.1643G>T
c.1971C>A (p.Gly657=)
c.1962C>A (p.Gly654=)
c.1989C>A (p.Gly663=)
c.1986C>A (p.Gly662=)
c.1968C>A (p.Gly656=)
c.1911C>A (p.Gly637=)
c.1845C>A (p.Gly615=)
c.411C>A (p.Gly137=)
c.1824C>A (p.Gly608=)
c.1959C>A (p.Gly653=)
c.1965C>A (p.Gly655=)
c.1881C>A (p.Gly627=)
c.1809C>A (p.Gly603=)
c.1743C>A (p.Gly581=)
c.1104C>A (p.Gly368=)
c.1722C>A (p.Gly574=)
9g.137776806C>GCA467874141EHMT1c.1980C>G (p.Gly660=)
c.1866C>G (p.Gly622=)
c.1887C>G (p.Gly629=)
c.2020C>G (n.2020C>G)
c.1607C>G
c.1149C>G (p.Gly383=)
c.*1715C>G (n.*1715C>G)
c.837C>G (p.Gly279=)
n.1643G>C
c.1971C>G (p.Gly657=)
c.1962C>G (p.Gly654=)
c.1989C>G (p.Gly663=)
c.1986C>G (p.Gly662=)
c.1968C>G (p.Gly656=)
c.1911C>G (p.Gly637=)
c.1845C>G (p.Gly615=)
c.411C>G (p.Gly137=)
c.1824C>G (p.Gly608=)
c.1959C>G (p.Gly653=)
c.1965C>G (p.Gly655=)
c.1881C>G (p.Gly627=)
c.1809C>G (p.Gly603=)
c.1743C>G (p.Gly581=)
c.1104C>G (p.Gly368=)
c.1722C>G (p.Gly574=)
9g.137776806C>TCA467874142EHMT1c.1980C>T (p.Gly660=)
c.1866C>T (p.Gly622=)
c.1887C>T (p.Gly629=)
c.2020C>T (n.2020C>T)
c.1607C>T
c.1149C>T (p.Gly383=)
c.*1715C>T (n.*1715C>T)
c.837C>T (p.Gly279=)
n.1643G>A
c.1971C>T (p.Gly657=)
c.1962C>T (p.Gly654=)
c.1989C>T (p.Gly663=)
c.1986C>T (p.Gly662=)
c.1968C>T (p.Gly656=)
c.1911C>T (p.Gly637=)
c.1845C>T (p.Gly615=)
c.411C>T (p.Gly137=)
c.1824C>T (p.Gly608=)
c.1959C>T (p.Gly653=)
c.1965C>T (p.Gly655=)
c.1881C>T (p.Gly627=)
c.1809C>T (p.Gly603=)
c.1743C>T (p.Gly581=)
c.1104C>T (p.Gly368=)
c.1722C>T (p.Gly574=)
9g.137776807T>ACA375776884EHMT1c.1981T>A (p.Ser661Thr)
c.1867T>A (p.Ser623Thr)
c.1888T>A (p.Ser630Thr)
c.2021T>A (n.2021T>A)
c.1608T>A
c.1150T>A (p.Ser384Thr)
c.*1716T>A (n.*1716T>A)
c.838T>A (p.Ser280Thr)
n.1642A>T
c.1972T>A (p.Ser658Thr)
c.1963T>A (p.Ser655Thr)
c.1990T>A (p.Ser664Thr)
c.1987T>A (p.Ser663Thr)
c.1969T>A (p.Ser657Thr)
c.1912T>A (p.Ser638Thr)
c.1846T>A (p.Ser616Thr)
c.412T>A (p.Ser138Thr)
c.1825T>A (p.Ser609Thr)
c.1960T>A (p.Ser654Thr)
c.1966T>A (p.Ser656Thr)
c.1882T>A (p.Ser628Thr)
c.1810T>A (p.Ser604Thr)
c.1744T>A (p.Ser582Thr)
c.1105T>A (p.Ser369Thr)
c.1723T>A (p.Ser575Thr)
9g.137776807T>CCA375776885EHMT1c.1981T>C (p.Ser661Pro)
c.1867T>C (p.Ser623Pro)
c.1888T>C (p.Ser630Pro)
c.2021T>C (n.2021T>C)
c.1608T>C
c.1150T>C (p.Ser384Pro)
c.*1716T>C (n.*1716T>C)
c.838T>C (p.Ser280Pro)
n.1642A>G
c.1972T>C (p.Ser658Pro)
c.1963T>C (p.Ser655Pro)
c.1990T>C (p.Ser664Pro)
c.1987T>C (p.Ser663Pro)
c.1969T>C (p.Ser657Pro)
c.1912T>C (p.Ser638Pro)
c.1846T>C (p.Ser616Pro)
c.412T>C (p.Ser138Pro)
c.1825T>C (p.Ser609Pro)
c.1960T>C (p.Ser654Pro)
c.1966T>C (p.Ser656Pro)
c.1882T>C (p.Ser628Pro)
c.1810T>C (p.Ser604Pro)
c.1744T>C (p.Ser582Pro)
c.1105T>C (p.Ser369Pro)
c.1723T>C (p.Ser575Pro)
9g.137776807T>GCA375776893EHMT1c.1981T>G (p.Ser661Ala)
c.1867T>G (p.Ser623Ala)
c.1888T>G (p.Ser630Ala)
c.2021T>G (n.2021T>G)
c.1608T>G
c.1150T>G (p.Ser384Ala)
c.*1716T>G (n.*1716T>G)
c.838T>G (p.Ser280Ala)
n.1642A>C
c.1972T>G (p.Ser658Ala)
c.1963T>G (p.Ser655Ala)
c.1990T>G (p.Ser664Ala)
c.1987T>G (p.Ser663Ala)
c.1969T>G (p.Ser657Ala)
c.1912T>G (p.Ser638Ala)
c.1846T>G (p.Ser616Ala)
c.412T>G (p.Ser138Ala)
c.1825T>G (p.Ser609Ala)
c.1960T>G (p.Ser654Ala)
c.1966T>G (p.Ser656Ala)
c.1882T>G (p.Ser628Ala)
c.1810T>G (p.Ser604Ala)
c.1744T>G (p.Ser582Ala)
c.1105T>G (p.Ser369Ala)
c.1723T>G (p.Ser575Ala)
9g.137776808C>ACA375776900EHMT1c.1982C>A (p.Ser661Ter)
c.1868C>A (p.Ser623Ter)
c.1889C>A (p.Ser630Ter)
c.2022C>A (n.2022C>A)
c.1609C>A
c.1151C>A (p.Ser384Ter)
c.*1717C>A (n.*1717C>A)
c.839C>A (p.Ser280Ter)
n.1641G>T
c.1973C>A (p.Ser658Ter)
c.1964C>A (p.Ser655Ter)
c.1991C>A (p.Ser664Ter)
c.1988C>A (p.Ser663Ter)
c.1970C>A (p.Ser657Ter)
c.1913C>A (p.Ser638Ter)
c.1847C>A (p.Ser616Ter)
c.413C>A (p.Ser138Ter)
c.1826C>A (p.Ser609Ter)
c.1961C>A (p.Ser654Ter)
c.1967C>A (p.Ser656Ter)
c.1883C>A (p.Ser628Ter)
c.1811C>A (p.Ser604Ter)
c.1745C>A (p.Ser582Ter)
c.1106C>A (p.Ser369Ter)
c.1724C>A (p.Ser575Ter)
9g.137776808C=CA1884666520EHMT1c.1982C= (p.Ser661=)
c.1868C= (p.Ser623=)
c.1889C= (p.Ser630=)
c.2022C= (n.2022C=)
c.1609C=
c.1151C= (p.Ser384=)
c.*1717C= (n.*1717C=)
c.839C= (p.Ser280=)
n.1641G=
c.1973C= (p.Ser658=)
c.1964C= (p.Ser655=)
c.1991C= (p.Ser664=)
c.1988C= (p.Ser663=)
c.1970C= (p.Ser657=)
c.1913C= (p.Ser638=)
c.1847C= (p.Ser616=)
c.413C= (p.Ser138=)
c.1826C= (p.Ser609=)
c.1961C= (p.Ser654=)
c.1967C= (p.Ser656=)
c.1883C= (p.Ser628=)
c.1811C= (p.Ser604=)
c.1745C= (p.Ser582=)
c.1106C= (p.Ser369=)
c.1724C= (p.Ser575=)
9g.137776808C>GCA375776898EHMT1c.1982C>G (p.Ser661Trp)
c.1868C>G (p.Ser623Trp)
c.1889C>G (p.Ser630Trp)
c.2022C>G (n.2022C>G)
c.1609C>G
c.1151C>G (p.Ser384Trp)
c.*1717C>G (n.*1717C>G)
c.839C>G (p.Ser280Trp)
n.1641G>C
c.1973C>G (p.Ser658Trp)
c.1964C>G (p.Ser655Trp)
c.1991C>G (p.Ser664Trp)
c.1988C>G (p.Ser663Trp)
c.1970C>G (p.Ser657Trp)
c.1913C>G (p.Ser638Trp)
c.1847C>G (p.Ser616Trp)
c.413C>G (p.Ser138Trp)
c.1826C>G (p.Ser609Trp)
c.1961C>G (p.Ser654Trp)
c.1967C>G (p.Ser656Trp)
c.1883C>G (p.Ser628Trp)
c.1811C>G (p.Ser604Trp)
c.1745C>G (p.Ser582Trp)
c.1106C>G (p.Ser369Trp)
c.1724C>G (p.Ser575Trp)
 gnomAD v4
9g.137776808C>TCA5374766EHMT1c.1982C>T (p.Ser661Leu)
c.1868C>T (p.Ser623Leu)
c.1889C>T (p.Ser630Leu)
c.2022C>T (n.2022C>T)
c.1609C>T
c.1151C>T (p.Ser384Leu)
c.*1717C>T (n.*1717C>T)
c.839C>T (p.Ser280Leu)
n.1641G>A
c.1973C>T (p.Ser658Leu)
c.1964C>T (p.Ser655Leu)
c.1991C>T (p.Ser664Leu)
c.1988C>T (p.Ser663Leu)
c.1970C>T (p.Ser657Leu)
c.1913C>T (p.Ser638Leu)
c.1847C>T (p.Ser616Leu)
c.413C>T (p.Ser138Leu)
c.1826C>T (p.Ser609Leu)
c.1961C>T (p.Ser654Leu)
c.1967C>T (p.Ser656Leu)
c.1883C>T (p.Ser628Leu)
c.1811C>T (p.Ser604Leu)
c.1745C>T (p.Ser582Leu)
c.1106C>T (p.Ser369Leu)
c.1724C>T (p.Ser575Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776809G>ACA5374767EHMT1c.1983G>A (p.Ser661=)
c.1869G>A (p.Ser623=)
c.1890G>A (p.Ser630=)
c.2023G>A (n.2023G>A)
c.1610G>A
c.1152G>A (p.Ser384=)
c.*1718G>A (n.*1718G>A)
c.840G>A (p.Ser280=)
n.1640C>T
c.1974G>A (p.Ser658=)
c.1965G>A (p.Ser655=)
c.1992G>A (p.Ser664=)
c.1989G>A (p.Ser663=)
c.1971G>A (p.Ser657=)
c.1914G>A (p.Ser638=)
c.1848G>A (p.Ser616=)
c.414G>A (p.Ser138=)
c.1827G>A (p.Ser609=)
c.1962G>A (p.Ser654=)
c.1968G>A (p.Ser656=)
c.1884G>A (p.Ser628=)
c.1812G>A (p.Ser604=)
c.1746G>A (p.Ser582=)
c.1107G>A (p.Ser369=)
c.1725G>A (p.Ser575=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776809G>CCA467874143EHMT1c.1983G>C (p.Ser661=)
c.1869G>C (p.Ser623=)
c.1890G>C (p.Ser630=)
c.2023G>C (n.2023G>C)
c.1610G>C
c.1152G>C (p.Ser384=)
c.*1718G>C (n.*1718G>C)
c.840G>C (p.Ser280=)
n.1640C>G
c.1974G>C (p.Ser658=)
c.1965G>C (p.Ser655=)
c.1992G>C (p.Ser664=)
c.1989G>C (p.Ser663=)
c.1971G>C (p.Ser657=)
c.1914G>C (p.Ser638=)
c.1848G>C (p.Ser616=)
c.414G>C (p.Ser138=)
c.1827G>C (p.Ser609=)
c.1962G>C (p.Ser654=)
c.1968G>C (p.Ser656=)
c.1884G>C (p.Ser628=)
c.1812G>C (p.Ser604=)
c.1746G>C (p.Ser582=)
c.1107G>C (p.Ser369=)
c.1725G>C (p.Ser575=)
 gnomAD v4
9g.137776809G=CA1884666521EHMT1c.1983G= (p.Ser661=)
c.1869G= (p.Ser623=)
c.1890G= (p.Ser630=)
c.2023G= (n.2023G=)
c.1610G=
c.1152G= (p.Ser384=)
c.*1718G= (n.*1718G=)
c.840G= (p.Ser280=)
n.1640C=
c.1974G= (p.Ser658=)
c.1965G= (p.Ser655=)
c.1992G= (p.Ser664=)
c.1989G= (p.Ser663=)
c.1971G= (p.Ser657=)
c.1914G= (p.Ser638=)
c.1848G= (p.Ser616=)
c.414G= (p.Ser138=)
c.1827G= (p.Ser609=)
c.1962G= (p.Ser654=)
c.1968G= (p.Ser656=)
c.1884G= (p.Ser628=)
c.1812G= (p.Ser604=)
c.1746G= (p.Ser582=)
c.1107G= (p.Ser369=)
c.1725G= (p.Ser575=)
9g.137776809G>TCA467874144EHMT1c.1983G>T (p.Ser661=)
c.1869G>T (p.Ser623=)
c.1890G>T (p.Ser630=)
c.2023G>T (n.2023G>T)
c.1610G>T
c.1152G>T (p.Ser384=)
c.*1718G>T (n.*1718G>T)
c.840G>T (p.Ser280=)
n.1640C>A
c.1974G>T (p.Ser658=)
c.1965G>T (p.Ser655=)
c.1992G>T (p.Ser664=)
c.1989G>T (p.Ser663=)
c.1971G>T (p.Ser657=)
c.1914G>T (p.Ser638=)
c.1848G>T (p.Ser616=)
c.414G>T (p.Ser138=)
c.1827G>T (p.Ser609=)
c.1962G>T (p.Ser654=)
c.1968G>T (p.Ser656=)
c.1884G>T (p.Ser628=)
c.1812G>T (p.Ser604=)
c.1746G>T (p.Ser582=)
c.1107G>T (p.Ser369=)
c.1725G>T (p.Ser575=)
9g.137776810G>ACA201804204EHMT1c.1984G>A (p.Ala662Thr)
c.1870G>A (p.Ala624Thr)
c.1891G>A (p.Ala631Thr)
c.2024G>A (n.2024G>A)
c.1611G>A
c.1153G>A (p.Ala385Thr)
c.*1719G>A (n.*1719G>A)
c.841G>A (p.Ala281Thr)
n.1639C>T
c.1975G>A (p.Ala659Thr)
c.1966G>A (p.Ala656Thr)
c.1993G>A (p.Ala665Thr)
c.1990G>A (p.Ala664Thr)
c.1972G>A (p.Ala658Thr)
c.1915G>A (p.Ala639Thr)
c.1849G>A (p.Ala617Thr)
c.415G>A (p.Ala139Thr)
c.1828G>A (p.Ala610Thr)
c.1963G>A (p.Ala655Thr)
c.1969G>A (p.Ala657Thr)
c.1885G>A (p.Ala629Thr)
c.1813G>A (p.Ala605Thr)
c.1747G>A (p.Ala583Thr)
c.1108G>A (p.Ala370Thr)
c.1726G>A (p.Ala576Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.137776810G>CCA375776905EHMT1c.1984G>C (p.Ala662Pro)
c.1870G>C (p.Ala624Pro)
c.1891G>C (p.Ala631Pro)
c.2024G>C (n.2024G>C)
c.1611G>C
c.1153G>C (p.Ala385Pro)
c.*1719G>C (n.*1719G>C)
c.841G>C (p.Ala281Pro)
n.1639C>G
c.1975G>C (p.Ala659Pro)
c.1966G>C (p.Ala656Pro)
c.1993G>C (p.Ala665Pro)
c.1990G>C (p.Ala664Pro)
c.1972G>C (p.Ala658Pro)
c.1915G>C (p.Ala639Pro)
c.1849G>C (p.Ala617Pro)
c.415G>C (p.Ala139Pro)
c.1828G>C (p.Ala610Pro)
c.1963G>C (p.Ala655Pro)
c.1969G>C (p.Ala657Pro)
c.1885G>C (p.Ala629Pro)
c.1813G>C (p.Ala605Pro)
c.1747G>C (p.Ala583Pro)
c.1108G>C (p.Ala370Pro)
c.1726G>C (p.Ala576Pro)
9g.137776810G=CA1884666522EHMT1c.1984G= (p.Ala662=)
c.1870G= (p.Ala624=)
c.1891G= (p.Ala631=)
c.2024G= (n.2024G=)
c.1611G=
c.1153G= (p.Ala385=)
c.*1719G= (n.*1719G=)
c.841G= (p.Ala281=)
n.1639C=
c.1975G= (p.Ala659=)
c.1966G= (p.Ala656=)
c.1993G= (p.Ala665=)
c.1990G= (p.Ala664=)
c.1972G= (p.Ala658=)
c.1915G= (p.Ala639=)
c.1849G= (p.Ala617=)
c.415G= (p.Ala139=)
c.1828G= (p.Ala610=)
c.1963G= (p.Ala655=)
c.1969G= (p.Ala657=)
c.1885G= (p.Ala629=)
c.1813G= (p.Ala605=)
c.1747G= (p.Ala583=)
c.1108G= (p.Ala370=)
c.1726G= (p.Ala576=)
9g.137776810G>TCA375776908EHMT1c.1984G>T (p.Ala662Ser)
c.1870G>T (p.Ala624Ser)
c.1891G>T (p.Ala631Ser)
c.2024G>T (n.2024G>T)
c.1611G>T
c.1153G>T (p.Ala385Ser)
c.*1719G>T (n.*1719G>T)
c.841G>T (p.Ala281Ser)
n.1639C>A
c.1975G>T (p.Ala659Ser)
c.1966G>T (p.Ala656Ser)
c.1993G>T (p.Ala665Ser)
c.1990G>T (p.Ala664Ser)
c.1972G>T (p.Ala658Ser)
c.1915G>T (p.Ala639Ser)
c.1849G>T (p.Ala617Ser)
c.415G>T (p.Ala139Ser)
c.1828G>T (p.Ala610Ser)
c.1963G>T (p.Ala655Ser)
c.1969G>T (p.Ala657Ser)
c.1885G>T (p.Ala629Ser)
c.1813G>T (p.Ala605Ser)
c.1747G>T (p.Ala583Ser)
c.1108G>T (p.Ala370Ser)
c.1726G>T (p.Ala576Ser)
 gnomAD v4
9g.137776811C>ACA375776912EHMT1c.1985C>A (p.Ala662Asp)
c.1871C>A (p.Ala624Asp)
c.1892C>A (p.Ala631Asp)
c.2025C>A (n.2025C>A)
c.1612C>A
c.1154C>A (p.Ala385Asp)
c.*1720C>A (n.*1720C>A)
c.842C>A (p.Ala281Asp)
n.1638G>T
c.1976C>A (p.Ala659Asp)
c.1967C>A (p.Ala656Asp)
c.1994C>A (p.Ala665Asp)
c.1991C>A (p.Ala664Asp)
c.1973C>A (p.Ala658Asp)
c.1916C>A (p.Ala639Asp)
c.1850C>A (p.Ala617Asp)
c.416C>A (p.Ala139Asp)
c.1829C>A (p.Ala610Asp)
c.1964C>A (p.Ala655Asp)
c.1970C>A (p.Ala657Asp)
c.1886C>A (p.Ala629Asp)
c.1814C>A (p.Ala605Asp)
c.1748C>A (p.Ala583Asp)
c.1109C>A (p.Ala370Asp)
c.1727C>A (p.Ala576Asp)
9g.137776811C>GCA375776913EHMT1c.1985C>G (p.Ala662Gly)
c.1871C>G (p.Ala624Gly)
c.1892C>G (p.Ala631Gly)
c.2025C>G (n.2025C>G)
c.1612C>G
c.1154C>G (p.Ala385Gly)
c.*1720C>G (n.*1720C>G)
c.842C>G (p.Ala281Gly)
n.1638G>C
c.1976C>G (p.Ala659Gly)
c.1967C>G (p.Ala656Gly)
c.1994C>G (p.Ala665Gly)
c.1991C>G (p.Ala664Gly)
c.1973C>G (p.Ala658Gly)
c.1916C>G (p.Ala639Gly)
c.1850C>G (p.Ala617Gly)
c.416C>G (p.Ala139Gly)
c.1829C>G (p.Ala610Gly)
c.1964C>G (p.Ala655Gly)
c.1970C>G (p.Ala657Gly)
c.1886C>G (p.Ala629Gly)
c.1814C>G (p.Ala605Gly)
c.1748C>G (p.Ala583Gly)
c.1109C>G (p.Ala370Gly)
c.1727C>G (p.Ala576Gly)
9g.137776811C>TCA375776916EHMT1c.1985C>T (p.Ala662Val)
c.1871C>T (p.Ala624Val)
c.1892C>T (p.Ala631Val)
c.2025C>T (n.2025C>T)
c.1612C>T
c.1154C>T (p.Ala385Val)
c.*1720C>T (n.*1720C>T)
c.842C>T (p.Ala281Val)
n.1638G>A
c.1976C>T (p.Ala659Val)
c.1967C>T (p.Ala656Val)
c.1994C>T (p.Ala665Val)
c.1991C>T (p.Ala664Val)
c.1973C>T (p.Ala658Val)
c.1916C>T (p.Ala639Val)
c.1850C>T (p.Ala617Val)
c.416C>T (p.Ala139Val)
c.1829C>T (p.Ala610Val)
c.1964C>T (p.Ala655Val)
c.1970C>T (p.Ala657Val)
c.1886C>T (p.Ala629Val)
c.1814C>T (p.Ala605Val)
c.1748C>T (p.Ala583Val)
c.1109C>T (p.Ala370Val)
c.1727C>T (p.Ala576Val)
9g.137776812C>ACA5374768EHMT1c.1986C>A (p.Ala662=)
c.1872C>A (p.Ala624=)
c.1893C>A (p.Ala631=)
c.2026C>A (n.2026C>A)
c.1613C>A
c.1155C>A (p.Ala385=)
c.*1721C>A (n.*1721C>A)
c.843C>A (p.Ala281=)
n.1637G>T
c.1977C>A (p.Ala659=)
c.1968C>A (p.Ala656=)
c.1995C>A (p.Ala665=)
c.1992C>A (p.Ala664=)
c.1974C>A (p.Ala658=)
c.1917C>A (p.Ala639=)
c.1851C>A (p.Ala617=)
c.417C>A (p.Ala139=)
c.1830C>A (p.Ala610=)
c.1965C>A (p.Ala655=)
c.1971C>A (p.Ala657=)
c.1887C>A (p.Ala629=)
c.1815C>A (p.Ala605=)
c.1749C>A (p.Ala583=)
c.1110C>A (p.Ala370=)
c.1728C>A (p.Ala576=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137776812C=CA1884666523EHMT1c.1986C= (p.Ala662=)
c.1872C= (p.Ala624=)
c.1893C= (p.Ala631=)
c.2026C= (n.2026C=)
c.1613C=
c.1155C= (p.Ala385=)
c.*1721C= (n.*1721C=)
c.843C= (p.Ala281=)
n.1637G=
c.1977C= (p.Ala659=)
c.1968C= (p.Ala656=)
c.1995C= (p.Ala665=)
c.1992C= (p.Ala664=)
c.1974C= (p.Ala658=)
c.1917C= (p.Ala639=)
c.1851C= (p.Ala617=)
c.417C= (p.Ala139=)
c.1830C= (p.Ala610=)
c.1965C= (p.Ala655=)
c.1971C= (p.Ala657=)
c.1887C= (p.Ala629=)
c.1815C= (p.Ala605=)
c.1749C= (p.Ala583=)
c.1110C= (p.Ala370=)
c.1728C= (p.Ala576=)
9g.137776812C>GCA467874145EHMT1c.1986C>G (p.Ala662=)
c.1872C>G (p.Ala624=)
c.1893C>G (p.Ala631=)
c.2026C>G (n.2026C>G)
c.1613C>G
c.1155C>G (p.Ala385=)
c.*1721C>G (n.*1721C>G)
c.843C>G (p.Ala281=)
n.1637G>C
c.1977C>G (p.Ala659=)
c.1968C>G (p.Ala656=)
c.1995C>G (p.Ala665=)
c.1992C>G (p.Ala664=)
c.1974C>G (p.Ala658=)
c.1917C>G (p.Ala639=)
c.1851C>G (p.Ala617=)
c.417C>G (p.Ala139=)
c.1830C>G (p.Ala610=)
c.1965C>G (p.Ala655=)
c.1971C>G (p.Ala657=)
c.1887C>G (p.Ala629=)
c.1815C>G (p.Ala605=)
c.1749C>G (p.Ala583=)
c.1110C>G (p.Ala370=)
c.1728C>G (p.Ala576=)
9g.137776812C>TCA467874146EHMT1c.1986C>T (p.Ala662=)
c.1872C>T (p.Ala624=)
c.1893C>T (p.Ala631=)
c.2026C>T (n.2026C>T)
c.1613C>T
c.1155C>T (p.Ala385=)
c.*1721C>T (n.*1721C>T)
c.843C>T (p.Ala281=)
n.1637G>A
c.1977C>T (p.Ala659=)
c.1968C>T (p.Ala656=)
c.1995C>T (p.Ala665=)
c.1992C>T (p.Ala664=)
c.1974C>T (p.Ala658=)
c.1917C>T (p.Ala639=)
c.1851C>T (p.Ala617=)
c.417C>T (p.Ala139=)
c.1830C>T (p.Ala610=)
c.1965C>T (p.Ala655=)
c.1971C>T (p.Ala657=)
c.1887C>T (p.Ala629=)
c.1815C>T (p.Ala605=)
c.1749C>T (p.Ala583=)
c.1110C>T (p.Ala370=)
c.1728C>T (p.Ala576=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137776813C>ACA375776922EHMT1c.1987C>A (p.Leu663Met)
c.1873C>A (p.Leu625Met)
c.1894C>A (p.Leu632Met)
c.2027C>A (n.2027C>A)
c.1614C>A
c.1156C>A (p.Leu386Met)
c.*1722C>A (n.*1722C>A)
c.844C>A (p.Leu282Met)
n.1636G>T
c.1978C>A (p.Leu660Met)
c.1969C>A (p.Leu657Met)
c.1996C>A (p.Leu666Met)
c.1993C>A (p.Leu665Met)
c.1975C>A (p.Leu659Met)
c.1918C>A (p.Leu640Met)
c.1852C>A (p.Leu618Met)
c.418C>A (p.Leu140Met)
c.1831C>A (p.Leu611Met)
c.1966C>A (p.Leu656Met)
c.1972C>A (p.Leu658Met)
c.1888C>A (p.Leu630Met)
c.1816C>A (p.Leu606Met)
c.1750C>A (p.Leu584Met)
c.1111C>A (p.Leu371Met)
c.1729C>A (p.Leu577Met)
9g.137776813C>GCA375776924EHMT1c.1987C>G (p.Leu663Val)
c.1873C>G (p.Leu625Val)
c.1894C>G (p.Leu632Val)
c.2027C>G (n.2027C>G)
c.1614C>G
c.1156C>G (p.Leu386Val)
c.*1722C>G (n.*1722C>G)
c.844C>G (p.Leu282Val)
n.1636G>C
c.1978C>G (p.Leu660Val)
c.1969C>G (p.Leu657Val)
c.1996C>G (p.Leu666Val)
c.1993C>G (p.Leu665Val)
c.1975C>G (p.Leu659Val)
c.1918C>G (p.Leu640Val)
c.1852C>G (p.Leu618Val)
c.418C>G (p.Leu140Val)
c.1831C>G (p.Leu611Val)
c.1966C>G (p.Leu656Val)
c.1972C>G (p.Leu658Val)
c.1888C>G (p.Leu630Val)
c.1816C>G (p.Leu606Val)
c.1750C>G (p.Leu584Val)
c.1111C>G (p.Leu371Val)
c.1729C>G (p.Leu577Val)
9g.137776813C>TCA467874147EHMT1c.1987C>T (p.Leu663=)
c.1873C>T (p.Leu625=)
c.1894C>T (p.Leu632=)
c.2027C>T (n.2027C>T)
c.1614C>T
c.1156C>T (p.Leu386=)
c.*1722C>T (n.*1722C>T)
c.844C>T (p.Leu282=)
n.1636G>A
c.1978C>T (p.Leu660=)
c.1969C>T (p.Leu657=)
c.1996C>T (p.Leu666=)
c.1993C>T (p.Leu665=)
c.1975C>T (p.Leu659=)
c.1918C>T (p.Leu640=)
c.1852C>T (p.Leu618=)
c.418C>T (p.Leu140=)
c.1831C>T (p.Leu611=)
c.1966C>T (p.Leu656=)
c.1972C>T (p.Leu658=)
c.1888C>T (p.Leu630=)
c.1816C>T (p.Leu606=)
c.1750C>T (p.Leu584=)
c.1111C>T (p.Leu371=)
c.1729C>T (p.Leu577=)
9g.137776814T>ACA375776926EHMT1c.1988T>A (p.Leu663Gln)
c.1874T>A (p.Leu625Gln)
c.1895T>A (p.Leu632Gln)
c.2028T>A (n.2028T>A)
c.1615T>A
c.1157T>A (p.Leu386Gln)
c.*1723T>A (n.*1723T>A)
c.845T>A (p.Leu282Gln)
n.1635A>T
c.1979T>A (p.Leu660Gln)
c.1970T>A (p.Leu657Gln)
c.1997T>A (p.Leu666Gln)
c.1994T>A (p.Leu665Gln)
c.1976T>A (p.Leu659Gln)
c.1919T>A (p.Leu640Gln)
c.1853T>A (p.Leu618Gln)
c.419T>A (p.Leu140Gln)
c.1832T>A (p.Leu611Gln)
c.1967T>A (p.Leu656Gln)
c.1973T>A (p.Leu658Gln)
c.1889T>A (p.Leu630Gln)
c.1817T>A (p.Leu606Gln)
c.1751T>A (p.Leu584Gln)
c.1112T>A (p.Leu371Gln)
c.1730T>A (p.Leu577Gln)
 gnomAD v4
9g.137776814T>CCA201804218EHMT1c.1988T>C (p.Leu663Pro)
c.1874T>C (p.Leu625Pro)
c.1895T>C (p.Leu632Pro)
c.2028T>C (n.2028T>C)
c.1615T>C
c.1157T>C (p.Leu386Pro)
c.*1723T>C (n.*1723T>C)
c.845T>C (p.Leu282Pro)
n.1635A>G
c.1979T>C (p.Leu660Pro)
c.1970T>C (p.Leu657Pro)
c.1997T>C (p.Leu666Pro)
c.1994T>C (p.Leu665Pro)
c.1976T>C (p.Leu659Pro)
c.1919T>C (p.Leu640Pro)
c.1853T>C (p.Leu618Pro)
c.419T>C (p.Leu140Pro)
c.1832T>C (p.Leu611Pro)
c.1967T>C (p.Leu656Pro)
c.1973T>C (p.Leu658Pro)
c.1889T>C (p.Leu630Pro)
c.1817T>C (p.Leu606Pro)
c.1751T>C (p.Leu584Pro)
c.1112T>C (p.Leu371Pro)
c.1730T>C (p.Leu577Pro)
 dbSNP gnomAD v4
9g.137776814T>GCA375776931EHMT1c.1988T>G (p.Leu663Arg)
c.1874T>G (p.Leu625Arg)
c.1895T>G (p.Leu632Arg)
c.2028T>G (n.2028T>G)
c.1615T>G
c.1157T>G (p.Leu386Arg)
c.*1723T>G (n.*1723T>G)
c.845T>G (p.Leu282Arg)
n.1635A>C
c.1979T>G (p.Leu660Arg)
c.1970T>G (p.Leu657Arg)
c.1997T>G (p.Leu666Arg)
c.1994T>G (p.Leu665Arg)
c.1976T>G (p.Leu659Arg)
c.1919T>G (p.Leu640Arg)
c.1853T>G (p.Leu618Arg)
c.419T>G (p.Leu140Arg)
c.1832T>G (p.Leu611Arg)
c.1967T>G (p.Leu656Arg)
c.1973T>G (p.Leu658Arg)
c.1889T>G (p.Leu630Arg)
c.1817T>G (p.Leu606Arg)
c.1751T>G (p.Leu584Arg)
c.1112T>G (p.Leu371Arg)
c.1730T>G (p.Leu577Arg)
9g.137776814T=CA1884666524EHMT1c.1988T= (p.Leu663=)
c.1874T= (p.Leu625=)
c.1895T= (p.Leu632=)
c.2028T= (n.2028T=)
c.1615T=
c.1157T= (p.Leu386=)
c.*1723T= (n.*1723T=)
c.845T= (p.Leu282=)
n.1635A=
c.1979T= (p.Leu660=)
c.1970T= (p.Leu657=)
c.1997T= (p.Leu666=)
c.1994T= (p.Leu665=)
c.1976T= (p.Leu659=)
c.1919T= (p.Leu640=)
c.1853T= (p.Leu618=)
c.419T= (p.Leu140=)
c.1832T= (p.Leu611=)
c.1967T= (p.Leu656=)
c.1973T= (p.Leu658=)
c.1889T= (p.Leu630=)
c.1817T= (p.Leu606=)
c.1751T= (p.Leu584=)
c.1112T= (p.Leu371=)
c.1730T= (p.Leu577=)
9g.137776815G>ACA467874148EHMT1c.1989G>A (p.Leu663=)
c.1875G>A (p.Leu625=)
c.1896G>A (p.Leu632=)
c.2029G>A (n.2029G>A)
c.1616G>A
c.1158G>A (p.Leu386=)
c.*1724G>A (n.*1724G>A)
c.846G>A (p.Leu282=)
n.1634C>T
c.1980G>A (p.Leu660=)
c.1971G>A (p.Leu657=)
c.1998G>A (p.Leu666=)
c.1995G>A (p.Leu665=)
c.1977G>A (p.Leu659=)
c.1920G>A (p.Leu640=)
c.1854G>A (p.Leu618=)
c.420G>A (p.Leu140=)
c.1833G>A (p.Leu611=)
c.1968G>A (p.Leu656=)
c.1974G>A (p.Leu658=)
c.1890G>A (p.Leu630=)
c.1818G>A (p.Leu606=)
c.1752G>A (p.Leu584=)
c.1113G>A (p.Leu371=)
c.1731G>A (p.Leu577=)
9g.137776815G>CCA467874149EHMT1c.1989G>C (p.Leu663=)
c.1875G>C (p.Leu625=)
c.1896G>C (p.Leu632=)
c.2029G>C (n.2029G>C)
c.1616G>C
c.1158G>C (p.Leu386=)
c.*1724G>C (n.*1724G>C)
c.846G>C (p.Leu282=)
n.1634C>G
c.1980G>C (p.Leu660=)
c.1971G>C (p.Leu657=)
c.1998G>C (p.Leu666=)
c.1995G>C (p.Leu665=)
c.1977G>C (p.Leu659=)
c.1920G>C (p.Leu640=)
c.1854G>C (p.Leu618=)
c.420G>C (p.Leu140=)
c.1833G>C (p.Leu611=)
c.1968G>C (p.Leu656=)
c.1974G>C (p.Leu658=)
c.1890G>C (p.Leu630=)
c.1818G>C (p.Leu606=)
c.1752G>C (p.Leu584=)
c.1113G>C (p.Leu371=)
c.1731G>C (p.Leu577=)
9g.137776815G>TCA467874150EHMT1c.1989G>T (p.Leu663=)
c.1875G>T (p.Leu625=)
c.1896G>T (p.Leu632=)
c.2029G>T (n.2029G>T)
c.1616G>T
c.1158G>T (p.Leu386=)
c.*1724G>T (n.*1724G>T)
c.846G>T (p.Leu282=)
n.1634C>A
c.1980G>T (p.Leu660=)
c.1971G>T (p.Leu657=)
c.1998G>T (p.Leu666=)
c.1995G>T (p.Leu665=)
c.1977G>T (p.Leu659=)
c.1920G>T (p.Leu640=)
c.1854G>T (p.Leu618=)
c.420G>T (p.Leu140=)
c.1833G>T (p.Leu611=)
c.1968G>T (p.Leu656=)
c.1974G>T (p.Leu658=)
c.1890G>T (p.Leu630=)
c.1818G>T (p.Leu606=)
c.1752G>T (p.Leu584=)
c.1113G>T (p.Leu371=)
c.1731G>T (p.Leu577=)
9g.137776816G>ACA375776937EHMT1c.1990G>A (p.Glu664Lys)
c.1876G>A (p.Glu626Lys)
c.1897G>A (p.Glu633Lys)
c.2030G>A (n.2030G>A)
c.1617G>A
c.1159G>A (p.Glu387Lys)
c.*1725G>A (n.*1725G>A)
c.847G>A (p.Glu283Lys)
n.1633C>T
c.1981G>A (p.Glu661Lys)
c.1972G>A (p.Glu658Lys)
c.1999G>A (p.Glu667Lys)
c.1996G>A (p.Glu666Lys)
c.1978G>A (p.Glu660Lys)
c.1921G>A (p.Glu641Lys)
c.1855G>A (p.Glu619Lys)
c.421G>A (p.Glu141Lys)
c.1834G>A (p.Glu612Lys)
c.1969G>A (p.Glu657Lys)
c.1975G>A (p.Glu659Lys)
c.1891G>A (p.Glu631Lys)
c.1819G>A (p.Glu607Lys)
c.1753G>A (p.Glu585Lys)
c.1114G>A (p.Glu372Lys)
c.1732G>A (p.Glu578Lys)
 gnomAD v4
9g.137776816G>CCA375776935EHMT1c.1990G>C (p.Glu664Gln)
c.1876G>C (p.Glu626Gln)
c.1897G>C (p.Glu633Gln)
c.2030G>C (n.2030G>C)
c.1617G>C
c.1159G>C (p.Glu387Gln)
c.*1725G>C (n.*1725G>C)
c.847G>C (p.Glu283Gln)
n.1633C>G
c.1981G>C (p.Glu661Gln)
c.1972G>C (p.Glu658Gln)
c.1999G>C (p.Glu667Gln)
c.1996G>C (p.Glu666Gln)
c.1978G>C (p.Glu660Gln)
c.1921G>C (p.Glu641Gln)
c.1855G>C (p.Glu619Gln)
c.421G>C (p.Glu141Gln)
c.1834G>C (p.Glu612Gln)
c.1969G>C (p.Glu657Gln)
c.1975G>C (p.Glu659Gln)
c.1891G>C (p.Glu631Gln)
c.1819G>C (p.Glu607Gln)
c.1753G>C (p.Glu585Gln)
c.1114G>C (p.Glu372Gln)
c.1732G>C (p.Glu578Gln)
 gnomAD v4
9g.137776816G>TCA375776933EHMT1c.1990G>T (p.Glu664Ter)
c.1876G>T (p.Glu626Ter)
c.1897G>T (p.Glu633Ter)
c.2030G>T (n.2030G>T)
c.1617G>T
c.1159G>T (p.Glu387Ter)
c.*1725G>T (n.*1725G>T)
c.847G>T (p.Glu283Ter)
n.1633C>A
c.1981G>T (p.Glu661Ter)
c.1972G>T (p.Glu658Ter)
c.1999G>T (p.Glu667Ter)
c.1996G>T (p.Glu666Ter)
c.1978G>T (p.Glu660Ter)
c.1921G>T (p.Glu641Ter)
c.1855G>T (p.Glu619Ter)
c.421G>T (p.Glu141Ter)
c.1834G>T (p.Glu612Ter)
c.1969G>T (p.Glu657Ter)
c.1975G>T (p.Glu659Ter)
c.1891G>T (p.Glu631Ter)
c.1819G>T (p.Glu607Ter)
c.1753G>T (p.Glu585Ter)
c.1114G>T (p.Glu372Ter)
c.1732G>T (p.Glu578Ter)
9g.137776817A>CCA375776941EHMT1c.1991A>C (p.Glu664Ala)
c.1877A>C (p.Glu626Ala)
c.1898A>C (p.Glu633Ala)
c.2031A>C (n.2031A>C)
c.1618A>C
c.1160A>C (p.Glu387Ala)
c.*1726A>C (n.*1726A>C)
c.848A>C (p.Glu283Ala)
n.1632T>G
c.1982A>C (p.Glu661Ala)
c.1973A>C (p.Glu658Ala)
c.2000A>C (p.Glu667Ala)
c.1997A>C (p.Glu666Ala)
c.1979A>C (p.Glu660Ala)
c.1922A>C (p.Glu641Ala)
c.1856A>C (p.Glu619Ala)
c.422A>C (p.Glu141Ala)
c.1835A>C (p.Glu612Ala)
c.1970A>C (p.Glu657Ala)
c.1976A>C (p.Glu659Ala)
c.1892A>C (p.Glu631Ala)
c.1820A>C (p.Glu607Ala)
c.1754A>C (p.Glu585Ala)
c.1115A>C (p.Glu372Ala)
c.1733A>C (p.Glu578Ala)
9g.137776817A>GCA375776945EHMT1c.1991A>G (p.Glu664Gly)
c.1877A>G (p.Glu626Gly)
c.1898A>G (p.Glu633Gly)
c.2031A>G (n.2031A>G)
c.1618A>G
c.1160A>G (p.Glu387Gly)
c.*1726A>G (n.*1726A>G)
c.848A>G (p.Glu283Gly)
n.1632T>C
c.1982A>G (p.Glu661Gly)
c.1973A>G (p.Glu658Gly)
c.2000A>G (p.Glu667Gly)
c.1997A>G (p.Glu666Gly)
c.1979A>G (p.Glu660Gly)
c.1922A>G (p.Glu641Gly)
c.1856A>G (p.Glu619Gly)
c.422A>G (p.Glu141Gly)
c.1835A>G (p.Glu612Gly)
c.1970A>G (p.Glu657Gly)
c.1976A>G (p.Glu659Gly)
c.1892A>G (p.Glu631Gly)
c.1820A>G (p.Glu607Gly)
c.1754A>G (p.Glu585Gly)
c.1115A>G (p.Glu372Gly)
c.1733A>G (p.Glu578Gly)
9g.137776817A>TCA375776947EHMT1c.1991A>T (p.Glu664Val)
c.1877A>T (p.Glu626Val)
c.1898A>T (p.Glu633Val)
c.2031A>T (n.2031A>T)
c.1618A>T
c.1160A>T (p.Glu387Val)
c.*1726A>T (n.*1726A>T)
c.848A>T (p.Glu283Val)
n.1632T>A
c.1982A>T (p.Glu661Val)
c.1973A>T (p.Glu658Val)
c.2000A>T (p.Glu667Val)
c.1997A>T (p.Glu666Val)
c.1979A>T (p.Glu660Val)
c.1922A>T (p.Glu641Val)
c.1856A>T (p.Glu619Val)
c.422A>T (p.Glu141Val)
c.1835A>T (p.Glu612Val)
c.1970A>T (p.Glu657Val)
c.1976A>T (p.Glu659Val)
c.1892A>T (p.Glu631Val)
c.1820A>T (p.Glu607Val)
c.1754A>T (p.Glu585Val)
c.1115A>T (p.Glu372Val)
c.1733A>T (p.Glu578Val)
9g.137776818G>ACA467874151EHMT1c.1992G>A (p.Glu664=)
c.1878G>A (p.Glu626=)
c.1899G>A (p.Glu633=)
c.2032G>A (n.2032G>A)
c.1619G>A
c.1161G>A (p.Glu387=)
c.*1727G>A (n.*1727G>A)
c.849G>A (p.Glu283=)
n.1631C>T
c.1983G>A (p.Glu661=)
c.1974G>A (p.Glu658=)
c.2001G>A (p.Glu667=)
c.1998G>A (p.Glu666=)
c.1980G>A (p.Glu660=)
c.1923G>A (p.Glu641=)
c.1857G>A (p.Glu619=)
c.423G>A (p.Glu141=)
c.1836G>A (p.Glu612=)
c.1971G>A (p.Glu657=)
c.1977G>A (p.Glu659=)
c.1893G>A (p.Glu631=)
c.1821G>A (p.Glu607=)
c.1755G>A (p.Glu585=)
c.1116G>A (p.Glu372=)
c.1734G>A (p.Glu578=)
9g.137776818G>CCA375776950EHMT1c.1992G>C (p.Glu664Asp)
c.1878G>C (p.Glu626Asp)
c.1899G>C (p.Glu633Asp)
c.2032G>C (n.2032G>C)
c.1619G>C
c.1161G>C (p.Glu387Asp)
c.*1727G>C (n.*1727G>C)
c.849G>C (p.Glu283Asp)
n.1631C>G
c.1983G>C (p.Glu661Asp)
c.1974G>C (p.Glu658Asp)
c.2001G>C (p.Glu667Asp)
c.1998G>C (p.Glu666Asp)
c.1980G>C (p.Glu660Asp)
c.1923G>C (p.Glu641Asp)
c.1857G>C (p.Glu619Asp)
c.423G>C (p.Glu141Asp)
c.1836G>C (p.Glu612Asp)
c.1971G>C (p.Glu657Asp)
c.1977G>C (p.Glu659Asp)
c.1893G>C (p.Glu631Asp)
c.1821G>C (p.Glu607Asp)
c.1755G>C (p.Glu585Asp)
c.1116G>C (p.Glu372Asp)
c.1734G>C (p.Glu578Asp)
9g.137776818G>TCA375776952EHMT1c.1992G>T (p.Glu664Asp)
c.1878G>T (p.Glu626Asp)
c.1899G>T (p.Glu633Asp)
c.2032G>T (n.2032G>T)
c.1619G>T
c.1161G>T (p.Glu387Asp)
c.*1727G>T (n.*1727G>T)
c.849G>T (p.Glu283Asp)
n.1631C>A
c.1983G>T (p.Glu661Asp)
c.1974G>T (p.Glu658Asp)
c.2001G>T (p.Glu667Asp)
c.1998G>T (p.Glu666Asp)
c.1980G>T (p.Glu660Asp)
c.1923G>T (p.Glu641Asp)
c.1857G>T (p.Glu619Asp)
c.423G>T (p.Glu141Asp)
c.1836G>T (p.Glu612Asp)
c.1971G>T (p.Glu657Asp)
c.1977G>T (p.Glu659Asp)
c.1893G>T (p.Glu631Asp)
c.1821G>T (p.Glu607Asp)
c.1755G>T (p.Glu585Asp)
c.1116G>T (p.Glu372Asp)
c.1734G>T (p.Glu578Asp)
9g.137776819G>ACA375776955EHMT1c.1993G>A (p.Gly665Ser)
c.1879G>A (p.Gly627Ser)
c.1900G>A (p.Gly634Ser)
c.2033G>A (n.2033G>A)
c.1620G>A
c.1162G>A (p.Gly388Ser)
c.*1728G>A (n.*1728G>A)
c.850G>A (p.Gly284Ser)
n.1630C>T
c.1984G>A (p.Gly662Ser)
c.1975G>A (p.Gly659Ser)
c.2002G>A (p.Gly668Ser)
c.1999G>A (p.Gly667Ser)
c.1981G>A (p.Gly661Ser)
c.1924G>A (p.Gly642Ser)
c.1858G>A (p.Gly620Ser)
c.424G>A (p.Gly142Ser)
c.1837G>A (p.Gly613Ser)
c.1972G>A (p.Gly658Ser)
c.1978G>A (p.Gly660Ser)
c.1894G>A (p.Gly632Ser)
c.1822G>A (p.Gly608Ser)
c.1756G>A (p.Gly586Ser)
c.1117G>A (p.Gly373Ser)
c.1735G>A (p.Gly579Ser)
 ClinVar dbSNP gnomAD v4
9g.137776819G>CCA375776957EHMT1c.1993G>C (p.Gly665Arg)
c.1879G>C (p.Gly627Arg)
c.1900G>C (p.Gly634Arg)
c.2033G>C (n.2033G>C)
c.1620G>C
c.1162G>C (p.Gly388Arg)
c.*1728G>C (n.*1728G>C)
c.850G>C (p.Gly284Arg)
n.1630C>G
c.1984G>C (p.Gly662Arg)
c.1975G>C (p.Gly659Arg)
c.2002G>C (p.Gly668Arg)
c.1999G>C (p.Gly667Arg)
c.1981G>C (p.Gly661Arg)
c.1924G>C (p.Gly642Arg)
c.1858G>C (p.Gly620Arg)
c.424G>C (p.Gly142Arg)
c.1837G>C (p.Gly613Arg)
c.1972G>C (p.Gly658Arg)
c.1978G>C (p.Gly660Arg)
c.1894G>C (p.Gly632Arg)
c.1822G>C (p.Gly608Arg)
c.1756G>C (p.Gly586Arg)
c.1117G>C (p.Gly373Arg)
c.1735G>C (p.Gly579Arg)
9g.137776819G=CA1884666525EHMT1c.1993G= (p.Gly665=)
c.1879G= (p.Gly627=)
c.1900G= (p.Gly634=)
c.2033G= (n.2033G=)
c.1620G=
c.1162G= (p.Gly388=)
c.*1728G= (n.*1728G=)
c.850G= (p.Gly284=)
n.1630C=
c.1984G= (p.Gly662=)
c.1975G= (p.Gly659=)
c.2002G= (p.Gly668=)
c.1999G= (p.Gly667=)
c.1981G= (p.Gly661=)
c.1924G= (p.Gly642=)
c.1858G= (p.Gly620=)
c.424G= (p.Gly142=)
c.1837G= (p.Gly613=)
c.1972G= (p.Gly658=)
c.1978G= (p.Gly660=)
c.1894G= (p.Gly632=)
c.1822G= (p.Gly608=)
c.1756G= (p.Gly586=)
c.1117G= (p.Gly373=)
c.1735G= (p.Gly579=)
9g.137776819G>TCA375776959EHMT1c.1993G>T (p.Gly665Cys)
c.1879G>T (p.Gly627Cys)
c.1900G>T (p.Gly634Cys)
c.2033G>T (n.2033G>T)
c.1620G>T
c.1162G>T (p.Gly388Cys)
c.*1728G>T (n.*1728G>T)
c.850G>T (p.Gly284Cys)
n.1630C>A
c.1984G>T (p.Gly662Cys)
c.1975G>T (p.Gly659Cys)
c.2002G>T (p.Gly668Cys)
c.1999G>T (p.Gly667Cys)
c.1981G>T (p.Gly661Cys)
c.1924G>T (p.Gly642Cys)
c.1858G>T (p.Gly620Cys)
c.424G>T (p.Gly142Cys)
c.1837G>T (p.Gly613Cys)
c.1972G>T (p.Gly658Cys)
c.1978G>T (p.Gly660Cys)
c.1894G>T (p.Gly632Cys)
c.1822G>T (p.Gly608Cys)
c.1756G>T (p.Gly586Cys)
c.1117G>T (p.Gly373Cys)
c.1735G>T (p.Gly579Cys)
9g.137776820G>ACA375776963EHMT1c.1994G>A (p.Gly665Asp)
c.1880G>A (p.Gly627Asp)
c.1901G>A (p.Gly634Asp)
c.2034G>A (n.2034G>A)
c.1621G>A
c.1163G>A (p.Gly388Asp)
c.*1729G>A (n.*1729G>A)
c.851G>A (p.Gly284Asp)
n.1629C>T
c.1985G>A (p.Gly662Asp)
c.1976G>A (p.Gly659Asp)
c.2003G>A (p.Gly668Asp)
c.2000G>A (p.Gly667Asp)
c.1982G>A (p.Gly661Asp)
c.1925G>A (p.Gly642Asp)
c.1859G>A (p.Gly620Asp)
c.425G>A (p.Gly142Asp)
c.1838G>A (p.Gly613Asp)
c.1973G>A (p.Gly658Asp)
c.1979G>A (p.Gly660Asp)
c.1895G>A (p.Gly632Asp)
c.1823G>A (p.Gly608Asp)
c.1757G>A (p.Gly586Asp)
c.1118G>A (p.Gly373Asp)
c.1736G>A (p.Gly579Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.137776820G>CCA375776965EHMT1c.1994G>C (p.Gly665Ala)
c.1880G>C (p.Gly627Ala)
c.1901G>C (p.Gly634Ala)
c.2034G>C (n.2034G>C)
c.1621G>C
c.1163G>C (p.Gly388Ala)
c.*1729G>C (n.*1729G>C)
c.851G>C (p.Gly284Ala)
n.1629C>G
c.1985G>C (p.Gly662Ala)
c.1976G>C (p.Gly659Ala)
c.2003G>C (p.Gly668Ala)
c.2000G>C (p.Gly667Ala)
c.1982G>C (p.Gly661Ala)
c.1925G>C (p.Gly642Ala)
c.1859G>C (p.Gly620Ala)
c.425G>C (p.Gly142Ala)
c.1838G>C (p.Gly613Ala)
c.1973G>C (p.Gly658Ala)
c.1979G>C (p.Gly660Ala)
c.1895G>C (p.Gly632Ala)
c.1823G>C (p.Gly608Ala)
c.1757G>C (p.Gly586Ala)
c.1118G>C (p.Gly373Ala)
c.1736G>C (p.Gly579Ala)
 gnomAD v4
9g.137776820G=CA1884666526EHMT1c.1994G= (p.Gly665=)
c.1880G= (p.Gly627=)
c.1901G= (p.Gly634=)
c.2034G= (n.2034G=)
c.1621G=
c.1163G= (p.Gly388=)
c.*1729G= (n.*1729G=)
c.851G= (p.Gly284=)
n.1629C=
c.1985G= (p.Gly662=)
c.1976G= (p.Gly659=)
c.2003G= (p.Gly668=)
c.2000G= (p.Gly667=)
c.1982G= (p.Gly661=)
c.1925G= (p.Gly642=)
c.1859G= (p.Gly620=)
c.425G= (p.Gly142=)
c.1838G= (p.Gly613=)
c.1973G= (p.Gly658=)
c.1979G= (p.Gly660=)
c.1895G= (p.Gly632=)
c.1823G= (p.Gly608=)
c.1757G= (p.Gly586=)
c.1118G= (p.Gly373=)
c.1736G= (p.Gly579=)
9g.137776820G>TCA375776967EHMT1c.1994G>T (p.Gly665Val)
c.1880G>T (p.Gly627Val)
c.1901G>T (p.Gly634Val)
c.2034G>T (n.2034G>T)
c.1621G>T
c.1163G>T (p.Gly388Val)
c.*1729G>T (n.*1729G>T)
c.851G>T (p.Gly284Val)
n.1629C>A
c.1985G>T (p.Gly662Val)
c.1976G>T (p.Gly659Val)
c.2003G>T (p.Gly668Val)
c.2000G>T (p.Gly667Val)
c.1982G>T (p.Gly661Val)
c.1925G>T (p.Gly642Val)
c.1859G>T (p.Gly620Val)
c.425G>T (p.Gly142Val)
c.1838G>T (p.Gly613Val)
c.1973G>T (p.Gly658Val)
c.1979G>T (p.Gly660Val)
c.1895G>T (p.Gly632Val)
c.1823G>T (p.Gly608Val)
c.1757G>T (p.Gly586Val)
c.1118G>T (p.Gly373Val)
c.1736G>T (p.Gly579Val)
9g.137776821C>ACA467874154EHMT1c.1995C>A (p.Gly665=)
c.1881C>A (p.Gly627=)
c.1902C>A (p.Gly634=)
c.2035C>A (n.2035C>A)
c.1622C>A
c.1164C>A (p.Gly388=)
c.*1730C>A (n.*1730C>A)
c.852C>A (p.Gly284=)
n.1628G>T
c.1986C>A (p.Gly662=)
c.1977C>A (p.Gly659=)
c.2004C>A (p.Gly668=)
c.2001C>A (p.Gly667=)
c.1983C>A (p.Gly661=)
c.1926C>A (p.Gly642=)
c.1860C>A (p.Gly620=)
c.426C>A (p.Gly142=)
c.1839C>A (p.Gly613=)
c.1974C>A (p.Gly658=)
c.1980C>A (p.Gly660=)
c.1896C>A (p.Gly632=)
c.1824C>A (p.Gly608=)
c.1758C>A (p.Gly586=)
c.1119C>A (p.Gly373=)
c.1737C>A (p.Gly579=)
9g.137776821C>GCA467874153EHMT1c.1995C>G (p.Gly665=)
c.1881C>G (p.Gly627=)
c.1902C>G (p.Gly634=)
c.2035C>G (n.2035C>G)
c.1622C>G
c.1164C>G (p.Gly388=)
c.*1730C>G (n.*1730C>G)
c.852C>G (p.Gly284=)
n.1628G>C
c.1986C>G (p.Gly662=)
c.1977C>G (p.Gly659=)
c.2004C>G (p.Gly668=)
c.2001C>G (p.Gly667=)
c.1983C>G (p.Gly661=)
c.1926C>G (p.Gly642=)
c.1860C>G (p.Gly620=)
c.426C>G (p.Gly142=)
c.1839C>G (p.Gly613=)
c.1974C>G (p.Gly658=)
c.1980C>G (p.Gly660=)
c.1896C>G (p.Gly632=)
c.1824C>G (p.Gly608=)
c.1758C>G (p.Gly586=)
c.1119C>G (p.Gly373=)
c.1737C>G (p.Gly579=)
9g.137776821C>TCA467874152EHMT1c.1995C>T (p.Gly665=)
c.1881C>T (p.Gly627=)
c.1902C>T (p.Gly634=)
c.2035C>T (n.2035C>T)
c.1622C>T
c.1164C>T (p.Gly388=)
c.*1730C>T (n.*1730C>T)
c.852C>T (p.Gly284=)
n.1628G>A
c.1986C>T (p.Gly662=)
c.1977C>T (p.Gly659=)
c.2004C>T (p.Gly668=)
c.2001C>T (p.Gly667=)
c.1983C>T (p.Gly661=)
c.1926C>T (p.Gly642=)
c.1860C>T (p.Gly620=)
c.426C>T (p.Gly142=)
c.1839C>T (p.Gly613=)
c.1974C>T (p.Gly658=)
c.1980C>T (p.Gly660=)
c.1896C>T (p.Gly632=)
c.1824C>T (p.Gly608=)
c.1758C>T (p.Gly586=)
c.1119C>T (p.Gly373=)
c.1737C>T (p.Gly579=)
 gnomAD v4
9g.137776822A>CCA467874155EHMT1c.1996A>C (p.Arg666=)
c.1882A>C (p.Arg628=)
c.1903A>C (p.Arg635=)
c.2036A>C (n.2036A>C)
c.1623A>C
c.1165A>C (p.Arg389=)
c.*1731A>C (n.*1731A>C)
c.853A>C (p.Arg285=)
n.1627T>G
c.1987A>C (p.Arg663=)
c.1978A>C (p.Arg660=)
c.2005A>C (p.Arg669=)
c.2002A>C (p.Arg668=)
c.1984A>C (p.Arg662=)
c.1927A>C (p.Arg643=)
c.1861A>C (p.Arg621=)
c.427A>C (p.Arg143=)
c.1840A>C (p.Arg614=)
c.1975A>C (p.Arg659=)
c.1981A>C (p.Arg661=)
c.1897A>C (p.Arg633=)
c.1825A>C (p.Arg609=)
c.1759A>C (p.Arg587=)
c.1120A>C (p.Arg374=)
c.1738A>C (p.Arg580=)
9g.137776822A>GCA375776969EHMT1c.1996A>G (p.Arg666Gly)
c.1882A>G (p.Arg628Gly)
c.1903A>G (p.Arg635Gly)
c.2036A>G (n.2036A>G)
c.1623A>G
c.1165A>G (p.Arg389Gly)
c.*1731A>G (n.*1731A>G)
c.853A>G (p.Arg285Gly)
n.1627T>C
c.1987A>G (p.Arg663Gly)
c.1978A>G (p.Arg660Gly)
c.2005A>G (p.Arg669Gly)
c.2002A>G (p.Arg668Gly)
c.1984A>G (p.Arg662Gly)
c.1927A>G (p.Arg643Gly)
c.1861A>G (p.Arg621Gly)
c.427A>G (p.Arg143Gly)
c.1840A>G (p.Arg614Gly)
c.1975A>G (p.Arg659Gly)
c.1981A>G (p.Arg661Gly)
c.1897A>G (p.Arg633Gly)
c.1825A>G (p.Arg609Gly)
c.1759A>G (p.Arg587Gly)
c.1120A>G (p.Arg374Gly)
c.1738A>G (p.Arg580Gly)
9g.137776822A>TCA375776971EHMT1c.1996A>T (p.Arg666Trp)
c.1882A>T (p.Arg628Trp)
c.1903A>T (p.Arg635Trp)
c.2036A>T (n.2036A>T)
c.1623A>T
c.1165A>T (p.Arg389Trp)
c.*1731A>T (n.*1731A>T)
c.853A>T (p.Arg285Trp)
n.1627T>A
c.1987A>T (p.Arg663Trp)
c.1978A>T (p.Arg660Trp)
c.2005A>T (p.Arg669Trp)
c.2002A>T (p.Arg668Trp)
c.1984A>T (p.Arg662Trp)
c.1927A>T (p.Arg643Trp)
c.1861A>T (p.Arg621Trp)
c.427A>T (p.Arg143Trp)
c.1840A>T (p.Arg614Trp)
c.1975A>T (p.Arg659Trp)
c.1981A>T (p.Arg661Trp)
c.1897A>T (p.Arg633Trp)
c.1825A>T (p.Arg609Trp)
c.1759A>T (p.Arg587Trp)
c.1120A>T (p.Arg374Trp)
c.1738A>T (p.Arg580Trp)
9g.137776823G>ACA375776978EHMT1c.1997G>A (p.Arg666Lys)
c.1883G>A (p.Arg628Lys)
c.1904G>A (p.Arg635Lys)
c.2037G>A (n.2037G>A)
c.1624G>A
c.1166G>A (p.Arg389Lys)
c.*1732G>A (n.*1732G>A)
c.854G>A (p.Arg285Lys)
n.1626C>T
c.1988G>A (p.Arg663Lys)
c.1979G>A (p.Arg660Lys)
c.2006G>A (p.Arg669Lys)
c.2003G>A (p.Arg668Lys)
c.1985G>A (p.Arg662Lys)
c.1928G>A (p.Arg643Lys)
c.1862G>A (p.Arg621Lys)
c.428G>A (p.Arg143Lys)
c.1841G>A (p.Arg614Lys)
c.1976G>A (p.Arg659Lys)
c.1982G>A (p.Arg661Lys)
c.1898G>A (p.Arg633Lys)
c.1826G>A (p.Arg609Lys)
c.1760G>A (p.Arg587Lys)
c.1121G>A (p.Arg374Lys)
c.1739G>A (p.Arg580Lys)
 dbSNP gnomAD v4
9g.137776823G>CCA375776975EHMT1c.1997G>C (p.Arg666Thr)
c.1883G>C (p.Arg628Thr)
c.1904G>C (p.Arg635Thr)
c.2037G>C (n.2037G>C)
c.1624G>C
c.1166G>C (p.Arg389Thr)
c.*1732G>C (n.*1732G>C)
c.854G>C (p.Arg285Thr)
n.1626C>G
c.1988G>C (p.Arg663Thr)
c.1979G>C (p.Arg660Thr)
c.2006G>C (p.Arg669Thr)
c.2003G>C (p.Arg668Thr)
c.1985G>C (p.Arg662Thr)
c.1928G>C (p.Arg643Thr)
c.1862G>C (p.Arg621Thr)
c.428G>C (p.Arg143Thr)
c.1841G>C (p.Arg614Thr)
c.1976G>C (p.Arg659Thr)
c.1982G>C (p.Arg661Thr)
c.1898G>C (p.Arg633Thr)
c.1826G>C (p.Arg609Thr)
c.1760G>C (p.Arg587Thr)
c.1121G>C (p.Arg374Thr)
c.1739G>C (p.Arg580Thr)
 ClinVar dbSNP
9g.137776823G=CA1884666527EHMT1c.1997G= (p.Arg666=)
c.1883G= (p.Arg628=)
c.1904G= (p.Arg635=)
c.2037G= (n.2037G=)
c.1624G=
c.1166G= (p.Arg389=)
c.*1732G= (n.*1732G=)
c.854G= (p.Arg285=)
n.1626C=
c.1988G= (p.Arg663=)
c.1979G= (p.Arg660=)
c.2006G= (p.Arg669=)
c.2003G= (p.Arg668=)
c.1985G= (p.Arg662=)
c.1928G= (p.Arg643=)
c.1862G= (p.Arg621=)
c.428G= (p.Arg143=)
c.1841G= (p.Arg614=)
c.1976G= (p.Arg659=)
c.1982G= (p.Arg661=)
c.1898G= (p.Arg633=)
c.1826G= (p.Arg609=)
c.1760G= (p.Arg587=)
c.1121G= (p.Arg374=)
c.1739G= (p.Arg580=)
9g.137776823G>TCA375776974EHMT1c.1997G>T (p.Arg666Met)
c.1883G>T (p.Arg628Met)
c.1904G>T (p.Arg635Met)
c.2037G>T (n.2037G>T)
c.1624G>T
c.1166G>T (p.Arg389Met)
c.*1732G>T (n.*1732G>T)
c.854G>T (p.Arg285Met)
n.1626C>A
c.1988G>T (p.Arg663Met)
c.1979G>T (p.Arg660Met)
c.2006G>T (p.Arg669Met)
c.2003G>T (p.Arg668Met)
c.1985G>T (p.Arg662Met)
c.1928G>T (p.Arg643Met)
c.1862G>T (p.Arg621Met)
c.428G>T (p.Arg143Met)
c.1841G>T (p.Arg614Met)
c.1976G>T (p.Arg659Met)
c.1982G>T (p.Arg661Met)
c.1898G>T (p.Arg633Met)
c.1826G>T (p.Arg609Met)
c.1760G>T (p.Arg587Met)
c.1121G>T (p.Arg374Met)
c.1739G>T (p.Arg580Met)
9g.137776824G>ACA467874156EHMT1c.1998G>A (p.Arg666=)
c.1884G>A (p.Arg628=)
c.1905G>A (p.Arg635=)
c.2038G>A (n.2038G>A)
c.1625G>A
c.1167G>A (p.Arg389=)
c.*1733G>A (n.*1733G>A)
c.855G>A (p.Arg285=)
n.1625C>T
c.1989G>A (p.Arg663=)
c.1980G>A (p.Arg660=)
c.2007G>A (p.Arg669=)
c.2004G>A (p.Arg668=)
c.1986G>A (p.Arg662=)
c.1929G>A (p.Arg643=)
c.1863G>A (p.Arg621=)
c.429G>A (p.Arg143=)
c.1842G>A (p.Arg614=)
c.1977G>A (p.Arg659=)
c.1983G>A (p.Arg661=)
c.1899G>A (p.Arg633=)
c.1827G>A (p.Arg609=)
c.1761G>A (p.Arg587=)
c.1122G>A (p.Arg374=)
c.1740G>A (p.Arg580=)
 gnomAD v4
9g.137776824G>CCA375776984EHMT1c.1998G>C (p.Arg666Ser)
c.1884G>C (p.Arg628Ser)
c.1905G>C (p.Arg635Ser)
c.2038G>C (n.2038G>C)
c.1625G>C
c.1167G>C (p.Arg389Ser)
c.*1733G>C (n.*1733G>C)
c.855G>C (p.Arg285Ser)
n.1625C>G
c.1989G>C (p.Arg663Ser)
c.1980G>C (p.Arg660Ser)
c.2007G>C (p.Arg669Ser)
c.2004G>C (p.Arg668Ser)
c.1986G>C (p.Arg662Ser)
c.1929G>C (p.Arg643Ser)
c.1863G>C (p.Arg621Ser)
c.429G>C (p.Arg143Ser)
c.1842G>C (p.Arg614Ser)
c.1977G>C (p.Arg659Ser)
c.1983G>C (p.Arg661Ser)
c.1899G>C (p.Arg633Ser)
c.1827G>C (p.Arg609Ser)
c.1761G>C (p.Arg587Ser)
c.1122G>C (p.Arg374Ser)
c.1740G>C (p.Arg580Ser)
9g.137776824G>TCA375776982EHMT1c.1998G>T (p.Arg666Ser)
c.1884G>T (p.Arg628Ser)
c.1905G>T (p.Arg635Ser)
c.2038G>T (n.2038G>T)
c.1625G>T
c.1167G>T (p.Arg389Ser)
c.*1733G>T (n.*1733G>T)
c.855G>T (p.Arg285Ser)
n.1625C>A
c.1989G>T (p.Arg663Ser)
c.1980G>T (p.Arg660Ser)
c.2007G>T (p.Arg669Ser)
c.2004G>T (p.Arg668Ser)
c.1986G>T (p.Arg662Ser)
c.1929G>T (p.Arg643Ser)
c.1863G>T (p.Arg621Ser)
c.429G>T (p.Arg143Ser)
c.1842G>T (p.Arg614Ser)
c.1977G>T (p.Arg659Ser)
c.1983G>T (p.Arg661Ser)
c.1899G>T (p.Arg633Ser)
c.1827G>T (p.Arg609Ser)
c.1761G>T (p.Arg587Ser)
c.1122G>T (p.Arg374Ser)
c.1740G>T (p.Arg580Ser)
9g.137776825G>ACA375776988EHMT1c.1999G>A (p.Ala667Thr)
c.1885G>A (p.Ala629Thr)
c.1906G>A (p.Ala636Thr)
c.2039G>A (n.2039G>A)
c.1626G>A
c.1168G>A (p.Ala390Thr)
c.*1734G>A (n.*1734G>A)
c.856G>A (p.Ala286Thr)
n.1624C>T
c.1990G>A (p.Ala664Thr)
c.1981G>A (p.Ala661Thr)
c.2008G>A (p.Ala670Thr)
c.2005G>A (p.Ala669Thr)
c.1987G>A (p.Ala663Thr)
c.1930G>A (p.Ala644Thr)
c.1864G>A (p.Ala622Thr)
c.430G>A (p.Ala144Thr)
c.1843G>A (p.Ala615Thr)
c.1978G>A (p.Ala660Thr)
c.1984G>A (p.Ala662Thr)
c.1900G>A (p.Ala634Thr)
c.1828G>A (p.Ala610Thr)
c.1762G>A (p.Ala588Thr)
c.1123G>A (p.Ala375Thr)
c.1741G>A (p.Ala581Thr)
 gnomAD v4
9g.137776825G>CCA375776991EHMT1c.1999G>C (p.Ala667Pro)
c.1885G>C (p.Ala629Pro)
c.1906G>C (p.Ala636Pro)
c.2039G>C (n.2039G>C)
c.1626G>C
c.1168G>C (p.Ala390Pro)
c.*1734G>C (n.*1734G>C)
c.856G>C (p.Ala286Pro)
n.1624C>G
c.1990G>C (p.Ala664Pro)
c.1981G>C (p.Ala661Pro)
c.2008G>C (p.Ala670Pro)
c.2005G>C (p.Ala669Pro)
c.1987G>C (p.Ala663Pro)
c.1930G>C (p.Ala644Pro)
c.1864G>C (p.Ala622Pro)
c.430G>C (p.Ala144Pro)
c.1843G>C (p.Ala615Pro)
c.1978G>C (p.Ala660Pro)
c.1984G>C (p.Ala662Pro)
c.1900G>C (p.Ala634Pro)
c.1828G>C (p.Ala610Pro)
c.1762G>C (p.Ala588Pro)
c.1123G>C (p.Ala375Pro)
c.1741G>C (p.Ala581Pro)
9g.137776825G>TCA375776994EHMT1c.1999G>T (p.Ala667Ser)
c.1885G>T (p.Ala629Ser)
c.1906G>T (p.Ala636Ser)
c.2039G>T (n.2039G>T)
c.1626G>T
c.1168G>T (p.Ala390Ser)
c.*1734G>T (n.*1734G>T)
c.856G>T (p.Ala286Ser)
n.1624C>A
c.1990G>T (p.Ala664Ser)
c.1981G>T (p.Ala661Ser)
c.2008G>T (p.Ala670Ser)
c.2005G>T (p.Ala669Ser)
c.1987G>T (p.Ala663Ser)
c.1930G>T (p.Ala644Ser)
c.1864G>T (p.Ala622Ser)
c.430G>T (p.Ala144Ser)
c.1843G>T (p.Ala615Ser)
c.1978G>T (p.Ala660Ser)
c.1984G>T (p.Ala662Ser)
c.1900G>T (p.Ala634Ser)
c.1828G>T (p.Ala610Ser)
c.1762G>T (p.Ala588Ser)
c.1123G>T (p.Ala375Ser)
c.1741G>T (p.Ala581Ser)
 gnomAD v4
9g.137776826C>ACA375776995EHMT1c.2000C>A (p.Ala667Asp)
c.1886C>A (p.Ala629Asp)
c.1907C>A (p.Ala636Asp)
c.2040C>A (n.2040C>A)
c.1627C>A
c.1169C>A (p.Ala390Asp)
c.*1735C>A (n.*1735C>A)
c.857C>A (p.Ala286Asp)
n.1623G>T
c.1991C>A (p.Ala664Asp)
c.1982C>A (p.Ala661Asp)
c.2009C>A (p.Ala670Asp)
c.2006C>A (p.Ala669Asp)
c.1988C>A (p.Ala663Asp)
c.1931C>A (p.Ala644Asp)
c.1865C>A (p.Ala622Asp)
c.431C>A (p.Ala144Asp)
c.1844C>A (p.Ala615Asp)
c.1979C>A (p.Ala660Asp)
c.1985C>A (p.Ala662Asp)
c.1901C>A (p.Ala634Asp)
c.1829C>A (p.Ala610Asp)
c.1763C>A (p.Ala588Asp)
c.1124C>A (p.Ala375Asp)
c.1742C>A (p.Ala581Asp)
9g.137776826C>GCA375776998EHMT1c.2000C>G (p.Ala667Gly)
c.1886C>G (p.Ala629Gly)
c.1907C>G (p.Ala636Gly)
c.2040C>G (n.2040C>G)
c.1627C>G
c.1169C>G (p.Ala390Gly)
c.*1735C>G (n.*1735C>G)
c.857C>G (p.Ala286Gly)
n.1623G>C
c.1991C>G (p.Ala664Gly)
c.1982C>G (p.Ala661Gly)
c.2009C>G (p.Ala670Gly)
c.2006C>G (p.Ala669Gly)
c.1988C>G (p.Ala663Gly)
c.1931C>G (p.Ala644Gly)
c.1865C>G (p.Ala622Gly)
c.431C>G (p.Ala144Gly)
c.1844C>G (p.Ala615Gly)
c.1979C>G (p.Ala660Gly)
c.1985C>G (p.Ala662Gly)
c.1901C>G (p.Ala634Gly)
c.1829C>G (p.Ala610Gly)
c.1763C>G (p.Ala588Gly)
c.1124C>G (p.Ala375Gly)
c.1742C>G (p.Ala581Gly)
9g.137776826C>TCA375776999EHMT1c.2000C>T (p.Ala667Val)
c.1886C>T (p.Ala629Val)
c.1907C>T (p.Ala636Val)
c.2040C>T (n.2040C>T)
c.1627C>T
c.1169C>T (p.Ala390Val)
c.*1735C>T (n.*1735C>T)
c.857C>T (p.Ala286Val)
n.1623G>A
c.1991C>T (p.Ala664Val)
c.1982C>T (p.Ala661Val)
c.2009C>T (p.Ala670Val)
c.2006C>T (p.Ala669Val)
c.1988C>T (p.Ala663Val)
c.1931C>T (p.Ala644Val)
c.1865C>T (p.Ala622Val)
c.431C>T (p.Ala144Val)
c.1844C>T (p.Ala615Val)
c.1979C>T (p.Ala660Val)
c.1985C>T (p.Ala662Val)
c.1901C>T (p.Ala634Val)
c.1829C>T (p.Ala610Val)
c.1763C>T (p.Ala588Val)
c.1124C>T (p.Ala375Val)
c.1742C>T (p.Ala581Val)
 gnomAD v4
9g.137776827C>ACA467874159EHMT1c.2001C>A (p.Ala667=)
c.1887C>A (p.Ala629=)
c.1908C>A (p.Ala636=)
c.2041C>A (n.2041C>A)
c.1628C>A
c.1170C>A (p.Ala390=)
c.*1736C>A (n.*1736C>A)
c.858C>A (p.Ala286=)
n.1622G>T
c.1992C>A (p.Ala664=)
c.1983C>A (p.Ala661=)
c.2010C>A (p.Ala670=)
c.2007C>A (p.Ala669=)
c.1989C>A (p.Ala663=)
c.1932C>A (p.Ala644=)
c.1866C>A (p.Ala622=)
c.432C>A (p.Ala144=)
c.1845C>A (p.Ala615=)
c.1980C>A (p.Ala660=)
c.1986C>A (p.Ala662=)
c.1902C>A (p.Ala634=)
c.1830C>A (p.Ala610=)
c.1764C>A (p.Ala588=)
c.1125C>A (p.Ala375=)
c.1743C>A (p.Ala581=)
9g.137776827C=CA1884666528EHMT1c.2001C= (p.Ala667=)
c.1887C= (p.Ala629=)
c.1908C= (p.Ala636=)
c.2041C= (n.2041C=)
c.1628C=
c.1170C= (p.Ala390=)
c.*1736C= (n.*1736C=)
c.858C= (p.Ala286=)
n.1622G=
c.1992C= (p.Ala664=)
c.1983C= (p.Ala661=)
c.2010C= (p.Ala670=)
c.2007C= (p.Ala669=)
c.1989C= (p.Ala663=)
c.1932C= (p.Ala644=)
c.1866C= (p.Ala622=)
c.432C= (p.Ala144=)
c.1845C= (p.Ala615=)
c.1980C= (p.Ala660=)
c.1986C= (p.Ala662=)
c.1902C= (p.Ala634=)
c.1830C= (p.Ala610=)
c.1764C= (p.Ala588=)
c.1125C= (p.Ala375=)
c.1743C= (p.Ala581=)
9g.137776827C>GCA467874157EHMT1c.2001C>G (p.Ala667=)
c.1887C>G (p.Ala629=)
c.1908C>G (p.Ala636=)
c.2041C>G (n.2041C>G)
c.1628C>G
c.1170C>G (p.Ala390=)
c.*1736C>G (n.*1736C>G)
c.858C>G (p.Ala286=)
n.1622G>C
c.1992C>G (p.Ala664=)
c.1983C>G (p.Ala661=)
c.2010C>G (p.Ala670=)
c.2007C>G (p.Ala669=)
c.1989C>G (p.Ala663=)
c.1932C>G (p.Ala644=)
c.1866C>G (p.Ala622=)
c.432C>G (p.Ala144=)
c.1845C>G (p.Ala615=)
c.1980C>G (p.Ala660=)
c.1986C>G (p.Ala662=)
c.1902C>G (p.Ala634=)
c.1830C>G (p.Ala610=)
c.1764C>G (p.Ala588=)
c.1125C>G (p.Ala375=)
c.1743C>G (p.Ala581=)
9g.137776827C>TCA467874158EHMT1c.2001C>T (p.Ala667=)
c.1887C>T (p.Ala629=)
c.1908C>T (p.Ala636=)
c.2041C>T (n.2041C>T)
c.1628C>T
c.1170C>T (p.Ala390=)
c.*1736C>T (n.*1736C>T)
c.858C>T (p.Ala286=)
n.1622G>A
c.1992C>T (p.Ala664=)
c.1983C>T (p.Ala661=)
c.2010C>T (p.Ala670=)
c.2007C>T (p.Ala669=)
c.1989C>T (p.Ala663=)
c.1932C>T (p.Ala644=)
c.1866C>T (p.Ala622=)
c.432C>T (p.Ala144=)
c.1845C>T (p.Ala615=)
c.1980C>T (p.Ala660=)
c.1986C>T (p.Ala662=)
c.1902C>T (p.Ala634=)
c.1830C>T (p.Ala610=)
c.1764C>T (p.Ala588=)
c.1125C>T (p.Ala375=)
c.1743C>T (p.Ala581=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137776828G>ACA201804225EHMT1c.2002G>A (p.Asp668Asn)
c.1888G>A (p.Asp630Asn)
c.1909G>A (p.Asp637Asn)
c.2042G>A (n.2042G>A)
c.1629G>A
c.1171G>A (p.Asp391Asn)
c.*1737G>A (n.*1737G>A)
c.859G>A (p.Asp287Asn)
n.1621C>T
c.1993G>A (p.Asp665Asn)
c.1984G>A (p.Asp662Asn)
c.2011G>A (p.Asp671Asn)
c.2008G>A (p.Asp670Asn)
c.1990G>A (p.Asp664Asn)
c.1933G>A (p.Asp645Asn)
c.1867G>A (p.Asp623Asn)
c.433G>A (p.Asp145Asn)
c.1846G>A (p.Asp616Asn)
c.1981G>A (p.Asp661Asn)
c.1987G>A (p.Asp663Asn)
c.1903G>A (p.Asp635Asn)
c.1831G>A (p.Asp611Asn)
c.1765G>A (p.Asp589Asn)
c.1126G>A (p.Asp376Asn)
c.1744G>A (p.Asp582Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137776828G>CCA375777001EHMT1c.2002G>C (p.Asp668His)
c.1888G>C (p.Asp630His)
c.1909G>C (p.Asp637His)
c.2042G>C (n.2042G>C)
c.1629G>C
c.1171G>C (p.Asp391His)
c.*1737G>C (n.*1737G>C)
c.859G>C (p.Asp287His)
n.1621C>G
c.1993G>C (p.Asp665His)
c.1984G>C (p.Asp662His)
c.2011G>C (p.Asp671His)
c.2008G>C (p.Asp670His)
c.1990G>C (p.Asp664His)
c.1933G>C (p.Asp645His)
c.1867G>C (p.Asp623His)
c.433G>C (p.Asp145His)
c.1846G>C (p.Asp616His)
c.1981G>C (p.Asp661His)
c.1987G>C (p.Asp663His)
c.1903G>C (p.Asp635His)
c.1831G>C (p.Asp611His)
c.1765G>C (p.Asp589His)
c.1126G>C (p.Asp376His)
c.1744G>C (p.Asp582His)
 dbSNP
9g.137776828G=CA1884666529EHMT1c.2002G= (p.Asp668=)
c.1888G= (p.Asp630=)
c.1909G= (p.Asp637=)
c.2042G= (n.2042G=)
c.1629G=
c.1171G= (p.Asp391=)
c.*1737G= (n.*1737G=)
c.859G= (p.Asp287=)
n.1621C=
c.1993G= (p.Asp665=)
c.1984G= (p.Asp662=)
c.2011G= (p.Asp671=)
c.2008G= (p.Asp670=)
c.1990G= (p.Asp664=)
c.1933G= (p.Asp645=)
c.1867G= (p.Asp623=)
c.433G= (p.Asp145=)
c.1846G= (p.Asp616=)
c.1981G= (p.Asp661=)
c.1987G= (p.Asp663=)
c.1903G= (p.Asp635=)
c.1831G= (p.Asp611=)
c.1765G= (p.Asp589=)
c.1126G= (p.Asp376=)
c.1744G= (p.Asp582=)
9g.137776828G>TCA375777003EHMT1c.2002G>T (p.Asp668Tyr)
c.1888G>T (p.Asp630Tyr)
c.1909G>T (p.Asp637Tyr)
c.2042G>T (n.2042G>T)
c.1629G>T
c.1171G>T (p.Asp391Tyr)
c.*1737G>T (n.*1737G>T)
c.859G>T (p.Asp287Tyr)
n.1621C>A
c.1993G>T (p.Asp665Tyr)
c.1984G>T (p.Asp662Tyr)
c.2011G>T (p.Asp671Tyr)
c.2008G>T (p.Asp670Tyr)
c.1990G>T (p.Asp664Tyr)
c.1933G>T (p.Asp645Tyr)
c.1867G>T (p.Asp623Tyr)
c.433G>T (p.Asp145Tyr)
c.1846G>T (p.Asp616Tyr)
c.1981G>T (p.Asp661Tyr)
c.1987G>T (p.Asp663Tyr)
c.1903G>T (p.Asp635Tyr)
c.1831G>T (p.Asp611Tyr)
c.1765G>T (p.Asp589Tyr)
c.1126G>T (p.Asp376Tyr)
c.1744G>T (p.Asp582Tyr)
 gnomAD v4
9g.137776829A>CCA375777006EHMT1c.2003A>C (p.Asp668Ala)
c.1889A>C (p.Asp630Ala)
c.1910A>C (p.Asp637Ala)
c.2043A>C (n.2043A>C)
c.1630A>C
c.1172A>C (p.Asp391Ala)
c.*1738A>C (n.*1738A>C)
c.860A>C (p.Asp287Ala)
n.1620T>G
c.1994A>C (p.Asp665Ala)
c.1985A>C (p.Asp662Ala)
c.2012A>C (p.Asp671Ala)
c.2009A>C (p.Asp670Ala)
c.1991A>C (p.Asp664Ala)
c.1934A>C (p.Asp645Ala)
c.1868A>C (p.Asp623Ala)
c.434A>C (p.Asp145Ala)
c.1847A>C (p.Asp616Ala)
c.1982A>C (p.Asp661Ala)
c.1988A>C (p.Asp663Ala)
c.1904A>C (p.Asp635Ala)
c.1832A>C (p.Asp611Ala)
c.1766A>C (p.Asp589Ala)
c.1127A>C (p.Asp376Ala)
c.1745A>C (p.Asp582Ala)
9g.137776829A>GCA375777010EHMT1c.2003A>G (p.Asp668Gly)
c.1889A>G (p.Asp630Gly)
c.1910A>G (p.Asp637Gly)
c.2043A>G (n.2043A>G)
c.1630A>G
c.1172A>G (p.Asp391Gly)
c.*1738A>G (n.*1738A>G)
c.860A>G (p.Asp287Gly)
n.1620T>C
c.1994A>G (p.Asp665Gly)
c.1985A>G (p.Asp662Gly)
c.2012A>G (p.Asp671Gly)
c.2009A>G (p.Asp670Gly)
c.1991A>G (p.Asp664Gly)
c.1934A>G (p.Asp645Gly)
c.1868A>G (p.Asp623Gly)
c.434A>G (p.Asp145Gly)
c.1847A>G (p.Asp616Gly)
c.1982A>G (p.Asp661Gly)
c.1988A>G (p.Asp663Gly)
c.1904A>G (p.Asp635Gly)
c.1832A>G (p.Asp611Gly)
c.1766A>G (p.Asp589Gly)
c.1127A>G (p.Asp376Gly)
c.1745A>G (p.Asp582Gly)
9g.137776829A>TCA375777013EHMT1c.2003A>T (p.Asp668Val)
c.1889A>T (p.Asp630Val)
c.1910A>T (p.Asp637Val)
c.2043A>T (n.2043A>T)
c.1630A>T
c.1172A>T (p.Asp391Val)
c.*1738A>T (n.*1738A>T)
c.860A>T (p.Asp287Val)
n.1620T>A
c.1994A>T (p.Asp665Val)
c.1985A>T (p.Asp662Val)
c.2012A>T (p.Asp671Val)
c.2009A>T (p.Asp670Val)
c.1991A>T (p.Asp664Val)
c.1934A>T (p.Asp645Val)
c.1868A>T (p.Asp623Val)
c.434A>T (p.Asp145Val)
c.1847A>T (p.Asp616Val)
c.1982A>T (p.Asp661Val)
c.1988A>T (p.Asp663Val)
c.1904A>T (p.Asp635Val)
c.1832A>T (p.Asp611Val)
c.1766A>T (p.Asp589Val)
c.1127A>T (p.Asp376Val)
c.1745A>T (p.Asp582Val)
 gnomAD v4
9g.137776830C>ACA375777019EHMT1c.2004C>A (p.Asp668Glu)
c.1890C>A (p.Asp630Glu)
c.1911C>A (p.Asp637Glu)
c.2044C>A (n.2044C>A)
c.1631C>A
c.1173C>A (p.Asp391Glu)
c.*1739C>A (n.*1739C>A)
c.861C>A (p.Asp287Glu)
n.1619G>T
c.1995C>A (p.Asp665Glu)
c.1986C>A (p.Asp662Glu)
c.2013C>A (p.Asp671Glu)
c.2010C>A (p.Asp670Glu)
c.1992C>A (p.Asp664Glu)
c.1935C>A (p.Asp645Glu)
c.1869C>A (p.Asp623Glu)
c.435C>A (p.Asp145Glu)
c.1848C>A (p.Asp616Glu)
c.1983C>A (p.Asp661Glu)
c.1989C>A (p.Asp663Glu)
c.1905C>A (p.Asp635Glu)
c.1833C>A (p.Asp611Glu)
c.1767C>A (p.Asp589Glu)
c.1128C>A (p.Asp376Glu)
c.1746C>A (p.Asp582Glu)
9g.137776830C>GCA375777016EHMT1c.2004C>G (p.Asp668Glu)
c.1890C>G (p.Asp630Glu)
c.1911C>G (p.Asp637Glu)
c.2044C>G (n.2044C>G)
c.1631C>G
c.1173C>G (p.Asp391Glu)
c.*1739C>G (n.*1739C>G)
c.861C>G (p.Asp287Glu)
n.1619G>C
c.1995C>G (p.Asp665Glu)
c.1986C>G (p.Asp662Glu)
c.2013C>G (p.Asp671Glu)
c.2010C>G (p.Asp670Glu)
c.1992C>G (p.Asp664Glu)
c.1935C>G (p.Asp645Glu)
c.1869C>G (p.Asp623Glu)
c.435C>G (p.Asp145Glu)
c.1848C>G (p.Asp616Glu)
c.1983C>G (p.Asp661Glu)
c.1989C>G (p.Asp663Glu)
c.1905C>G (p.Asp635Glu)
c.1833C>G (p.Asp611Glu)
c.1767C>G (p.Asp589Glu)
c.1128C>G (p.Asp376Glu)
c.1746C>G (p.Asp582Glu)
9g.137776830C>TCA467874160EHMT1c.2004C>T (p.Asp668=)
c.1890C>T (p.Asp630=)
c.1911C>T (p.Asp637=)
c.2044C>T (n.2044C>T)
c.1631C>T
c.1173C>T (p.Asp391=)
c.*1739C>T (n.*1739C>T)
c.861C>T (p.Asp287=)
n.1619G>A
c.1995C>T (p.Asp665=)
c.1986C>T (p.Asp662=)
c.2013C>T (p.Asp671=)
c.2010C>T (p.Asp670=)
c.1992C>T (p.Asp664=)
c.1935C>T (p.Asp645=)
c.1869C>T (p.Asp623=)
c.435C>T (p.Asp145=)
c.1848C>T (p.Asp616=)
c.1983C>T (p.Asp661=)
c.1989C>T (p.Asp663=)
c.1905C>T (p.Asp635=)
c.1833C>T (p.Asp611=)
c.1767C>T (p.Asp589=)
c.1128C>T (p.Asp376=)
c.1746C>T (p.Asp582=)
9g.137776831A=CA1884666530EHMT1c.2005A= (p.Thr669=)
c.1891A= (p.Thr631=)
c.1912A= (p.Thr638=)
c.2045A= (n.2045A=)
c.1632A=
c.1174A= (p.Thr392=)
c.*1740A= (n.*1740A=)
c.862A= (p.Thr288=)
n.1618T=
c.1996A= (p.Thr666=)
c.1987A= (p.Thr663=)
c.2014A= (p.Thr672=)
c.2011A= (p.Thr671=)
c.1993A= (p.Thr665=)
c.1936A= (p.Thr646=)
c.1870A= (p.Thr624=)
c.436A= (p.Thr146=)
c.1849A= (p.Thr617=)
c.1984A= (p.Thr662=)
c.1990A= (p.Thr664=)
c.1906A= (p.Thr636=)
c.1834A= (p.Thr612=)
c.1768A= (p.Thr590=)
c.1129A= (p.Thr377=)
c.1747A= (p.Thr583=)
9g.137776831A>CCA375777021EHMT1c.2005A>C (p.Thr669Pro)
c.1891A>C (p.Thr631Pro)
c.1912A>C (p.Thr638Pro)
c.2045A>C (n.2045A>C)
c.1632A>C
c.1174A>C (p.Thr392Pro)
c.*1740A>C (n.*1740A>C)
c.862A>C (p.Thr288Pro)
n.1618T>G
c.1996A>C (p.Thr666Pro)
c.1987A>C (p.Thr663Pro)
c.2014A>C (p.Thr672Pro)
c.2011A>C (p.Thr671Pro)
c.1993A>C (p.Thr665Pro)
c.1936A>C (p.Thr646Pro)
c.1870A>C (p.Thr624Pro)
c.436A>C (p.Thr146Pro)
c.1849A>C (p.Thr617Pro)
c.1984A>C (p.Thr662Pro)
c.1990A>C (p.Thr664Pro)
c.1906A>C (p.Thr636Pro)
c.1834A>C (p.Thr612Pro)
c.1768A>C (p.Thr590Pro)
c.1129A>C (p.Thr377Pro)
c.1747A>C (p.Thr583Pro)
 dbSNP
9g.137776831A>GCA375777024EHMT1c.2005A>G (p.Thr669Ala)
c.1891A>G (p.Thr631Ala)
c.1912A>G (p.Thr638Ala)
c.2045A>G (n.2045A>G)
c.1632A>G
c.1174A>G (p.Thr392Ala)
c.*1740A>G (n.*1740A>G)
c.862A>G (p.Thr288Ala)
n.1618T>C
c.1996A>G (p.Thr666Ala)
c.1987A>G (p.Thr663Ala)
c.2014A>G (p.Thr672Ala)
c.2011A>G (p.Thr671Ala)
c.1993A>G (p.Thr665Ala)
c.1936A>G (p.Thr646Ala)
c.1870A>G (p.Thr624Ala)
c.436A>G (p.Thr146Ala)
c.1849A>G (p.Thr617Ala)
c.1984A>G (p.Thr662Ala)
c.1990A>G (p.Thr664Ala)
c.1906A>G (p.Thr636Ala)
c.1834A>G (p.Thr612Ala)
c.1768A>G (p.Thr590Ala)
c.1129A>G (p.Thr377Ala)
c.1747A>G (p.Thr583Ala)
 dbSNP gnomAD v2
9g.137776831A>TCA375777027EHMT1c.2005A>T (p.Thr669Ser)
c.1891A>T (p.Thr631Ser)
c.1912A>T (p.Thr638Ser)
c.2045A>T (n.2045A>T)
c.1632A>T
c.1174A>T (p.Thr392Ser)
c.*1740A>T (n.*1740A>T)
c.862A>T (p.Thr288Ser)
n.1618T>A
c.1996A>T (p.Thr666Ser)
c.1987A>T (p.Thr663Ser)
c.2014A>T (p.Thr672Ser)
c.2011A>T (p.Thr671Ser)
c.1993A>T (p.Thr665Ser)
c.1936A>T (p.Thr646Ser)
c.1870A>T (p.Thr624Ser)
c.436A>T (p.Thr146Ser)
c.1849A>T (p.Thr617Ser)
c.1984A>T (p.Thr662Ser)
c.1990A>T (p.Thr664Ser)
c.1906A>T (p.Thr636Ser)
c.1834A>T (p.Thr612Ser)
c.1768A>T (p.Thr590Ser)
c.1129A>T (p.Thr377Ser)
c.1747A>T (p.Thr583Ser)
9g.137776832C>ACA375777029EHMT1c.2006C>A (p.Thr669Asn)
c.1892C>A (p.Thr631Asn)
c.1913C>A (p.Thr638Asn)
c.2046C>A (n.2046C>A)
c.1633C>A
c.1175C>A (p.Thr392Asn)
c.*1741C>A (n.*1741C>A)
c.863C>A (p.Thr288Asn)
n.1617G>T
c.1997C>A (p.Thr666Asn)
c.1988C>A (p.Thr663Asn)
c.2015C>A (p.Thr672Asn)
c.2012C>A (p.Thr671Asn)
c.1994C>A (p.Thr665Asn)
c.1937C>A (p.Thr646Asn)
c.1871C>A (p.Thr624Asn)
c.437C>A (p.Thr146Asn)
c.1850C>A (p.Thr617Asn)
c.1985C>A (p.Thr662Asn)
c.1991C>A (p.Thr664Asn)
c.1907C>A (p.Thr636Asn)
c.1835C>A (p.Thr612Asn)
c.1769C>A (p.Thr590Asn)
c.1130C>A (p.Thr377Asn)
c.1748C>A (p.Thr583Asn)
9g.137776832C>GCA375777032EHMT1c.2006C>G (p.Thr669Ser)
c.1892C>G (p.Thr631Ser)
c.1913C>G (p.Thr638Ser)
c.2046C>G (n.2046C>G)
c.1633C>G
c.1175C>G (p.Thr392Ser)
c.*1741C>G (n.*1741C>G)
c.863C>G (p.Thr288Ser)
n.1617G>C
c.1997C>G (p.Thr666Ser)
c.1988C>G (p.Thr663Ser)
c.2015C>G (p.Thr672Ser)
c.2012C>G (p.Thr671Ser)
c.1994C>G (p.Thr665Ser)
c.1937C>G (p.Thr646Ser)
c.1871C>G (p.Thr624Ser)
c.437C>G (p.Thr146Ser)
c.1850C>G (p.Thr617Ser)
c.1985C>G (p.Thr662Ser)
c.1991C>G (p.Thr664Ser)
c.1907C>G (p.Thr636Ser)
c.1835C>G (p.Thr612Ser)
c.1769C>G (p.Thr590Ser)
c.1130C>G (p.Thr377Ser)
c.1748C>G (p.Thr583Ser)
 dbSNP
9g.137776832C>TCA375777033EHMT1c.2006C>T (p.Thr669Ile)
c.1892C>T (p.Thr631Ile)
c.1913C>T (p.Thr638Ile)
c.2046C>T (n.2046C>T)
c.1633C>T
c.1175C>T (p.Thr392Ile)
c.*1741C>T (n.*1741C>T)
c.863C>T (p.Thr288Ile)
n.1617G>A
c.1997C>T (p.Thr666Ile)
c.1988C>T (p.Thr663Ile)
c.2015C>T (p.Thr672Ile)
c.2012C>T (p.Thr671Ile)
c.1994C>T (p.Thr665Ile)
c.1937C>T (p.Thr646Ile)
c.1871C>T (p.Thr624Ile)
c.437C>T (p.Thr146Ile)
c.1850C>T (p.Thr617Ile)
c.1985C>T (p.Thr662Ile)
c.1991C>T (p.Thr664Ile)
c.1907C>T (p.Thr636Ile)
c.1835C>T (p.Thr612Ile)
c.1769C>T (p.Thr590Ile)
c.1130C>T (p.Thr377Ile)
c.1748C>T (p.Thr583Ile)
9g.137776833C>ACA467874161EHMT1c.2007C>A (p.Thr669=)
c.1893C>A (p.Thr631=)
c.1914C>A (p.Thr638=)
c.2047C>A (n.2047C>A)
c.1634C>A
c.1176C>A (p.Thr392=)
c.*1742C>A (n.*1742C>A)
c.864C>A (p.Thr288=)
n.1616G>T
c.1998C>A (p.Thr666=)
c.1989C>A (p.Thr663=)
c.2016C>A (p.Thr672=)
c.2013C>A (p.Thr671=)
c.1995C>A (p.Thr665=)
c.1938C>A (p.Thr646=)
c.1872C>A (p.Thr624=)
c.438C>A (p.Thr146=)
c.1851C>A (p.Thr617=)
c.1986C>A (p.Thr662=)
c.1992C>A (p.Thr664=)
c.1908C>A (p.Thr636=)
c.1836C>A (p.Thr612=)
c.1770C>A (p.Thr590=)
c.1131C>A (p.Thr377=)
c.1749C>A (p.Thr583=)
9g.137776833C>GCA467874162EHMT1c.2007C>G (p.Thr669=)
c.1893C>G (p.Thr631=)
c.1914C>G (p.Thr638=)
c.2047C>G (n.2047C>G)
c.1634C>G
c.1176C>G (p.Thr392=)
c.*1742C>G (n.*1742C>G)
c.864C>G (p.Thr288=)
n.1616G>C
c.1998C>G (p.Thr666=)
c.1989C>G (p.Thr663=)
c.2016C>G (p.Thr672=)
c.2013C>G (p.Thr671=)
c.1995C>G (p.Thr665=)
c.1938C>G (p.Thr646=)
c.1872C>G (p.Thr624=)
c.438C>G (p.Thr146=)
c.1851C>G (p.Thr617=)
c.1986C>G (p.Thr662=)
c.1992C>G (p.Thr664=)
c.1908C>G (p.Thr636=)
c.1836C>G (p.Thr612=)
c.1770C>G (p.Thr590=)
c.1131C>G (p.Thr377=)
c.1749C>G (p.Thr583=)
9g.137776833C>TCA467874163EHMT1c.2007C>T (p.Thr669=)
c.1893C>T (p.Thr631=)
c.1914C>T (p.Thr638=)
c.2047C>T (n.2047C>T)
c.1634C>T
c.1176C>T (p.Thr392=)
c.*1742C>T (n.*1742C>T)
c.864C>T (p.Thr288=)
n.1616G>A
c.1998C>T (p.Thr666=)
c.1989C>T (p.Thr663=)
c.2016C>T (p.Thr672=)
c.2013C>T (p.Thr671=)
c.1995C>T (p.Thr665=)
c.1938C>T (p.Thr646=)
c.1872C>T (p.Thr624=)
c.438C>T (p.Thr146=)
c.1851C>T (p.Thr617=)
c.1986C>T (p.Thr662=)
c.1992C>T (p.Thr664=)
c.1908C>T (p.Thr636=)
c.1836C>T (p.Thr612=)
c.1770C>T (p.Thr590=)
c.1131C>T (p.Thr377=)
c.1749C>T (p.Thr583=)
9g.137776834A>CCA375777035EHMT1c.2008A>C (p.Thr670Pro)
c.1894A>C (p.Thr632Pro)
c.1915A>C (p.Thr639Pro)
c.2048A>C (n.2048A>C)
c.1635A>C
c.1177A>C (p.Thr393Pro)
c.*1743A>C (n.*1743A>C)
c.865A>C (p.Thr289Pro)
n.1615T>G
c.1999A>C (p.Thr667Pro)
c.1990A>C (p.Thr664Pro)
c.2017A>C (p.Thr673Pro)
c.2014A>C (p.Thr672Pro)
c.1996A>C (p.Thr666Pro)
c.1939A>C (p.Thr647Pro)
c.1873A>C (p.Thr625Pro)
c.439A>C (p.Thr147Pro)
c.1852A>C (p.Thr618Pro)
c.1987A>C (p.Thr663Pro)
c.1993A>C (p.Thr665Pro)
c.1909A>C (p.Thr637Pro)
c.1837A>C (p.Thr613Pro)
c.1771A>C (p.Thr591Pro)
c.1132A>C (p.Thr378Pro)
c.1750A>C (p.Thr584Pro)
9g.137776834A>GCA375777037EHMT1c.2008A>G (p.Thr670Ala)
c.1894A>G (p.Thr632Ala)
c.1915A>G (p.Thr639Ala)
c.2048A>G (n.2048A>G)
c.1635A>G
c.1177A>G (p.Thr393Ala)
c.*1743A>G (n.*1743A>G)
c.865A>G (p.Thr289Ala)
n.1615T>C
c.1999A>G (p.Thr667Ala)
c.1990A>G (p.Thr664Ala)
c.2017A>G (p.Thr673Ala)
c.2014A>G (p.Thr672Ala)
c.1996A>G (p.Thr666Ala)
c.1939A>G (p.Thr647Ala)
c.1873A>G (p.Thr625Ala)
c.439A>G (p.Thr147Ala)
c.1852A>G (p.Thr618Ala)
c.1987A>G (p.Thr663Ala)
c.1993A>G (p.Thr665Ala)
c.1909A>G (p.Thr637Ala)
c.1837A>G (p.Thr613Ala)
c.1771A>G (p.Thr591Ala)
c.1132A>G (p.Thr378Ala)
c.1750A>G (p.Thr584Ala)
 gnomAD v4
9g.137776834A>TCA375777039EHMT1c.2008A>T (p.Thr670Ser)
c.1894A>T (p.Thr632Ser)
c.1915A>T (p.Thr639Ser)
c.2048A>T (n.2048A>T)
c.1635A>T
c.1177A>T (p.Thr393Ser)
c.*1743A>T (n.*1743A>T)
c.865A>T (p.Thr289Ser)
n.1615T>A
c.1999A>T (p.Thr667Ser)
c.1990A>T (p.Thr664Ser)
c.2017A>T (p.Thr673Ser)
c.2014A>T (p.Thr672Ser)
c.1996A>T (p.Thr666Ser)
c.1939A>T (p.Thr647Ser)
c.1873A>T (p.Thr625Ser)
c.439A>T (p.Thr147Ser)
c.1852A>T (p.Thr618Ser)
c.1987A>T (p.Thr663Ser)
c.1993A>T (p.Thr665Ser)
c.1909A>T (p.Thr637Ser)
c.1837A>T (p.Thr613Ser)
c.1771A>T (p.Thr591Ser)
c.1132A>T (p.Thr378Ser)
c.1750A>T (p.Thr584Ser)
9g.137776835C>ACA375777042EHMT1c.2009C>A (p.Thr670Lys)
c.1895C>A (p.Thr632Lys)
c.1916C>A (p.Thr639Lys)
c.2049C>A (n.2049C>A)
c.1636C>A
c.1178C>A (p.Thr393Lys)
c.*1744C>A (n.*1744C>A)
c.866C>A (p.Thr289Lys)
n.1614G>T
c.2000C>A (p.Thr667Lys)
c.1991C>A (p.Thr664Lys)
c.2018C>A (p.Thr673Lys)
c.2015C>A (p.Thr672Lys)
c.1997C>A (p.Thr666Lys)
c.1940C>A (p.Thr647Lys)
c.1874C>A (p.Thr625Lys)
c.440C>A (p.Thr147Lys)
c.1853C>A (p.Thr618Lys)
c.1988C>A (p.Thr663Lys)
c.1994C>A (p.Thr665Lys)
c.1910C>A (p.Thr637Lys)
c.1838C>A (p.Thr613Lys)
c.1772C>A (p.Thr591Lys)
c.1133C>A (p.Thr378Lys)
c.1751C>A (p.Thr584Lys)
9g.137776835C>GCA375777043EHMT1c.2009C>G (p.Thr670Arg)
c.1895C>G (p.Thr632Arg)
c.1916C>G (p.Thr639Arg)
c.2049C>G (n.2049C>G)
c.1636C>G
c.1178C>G (p.Thr393Arg)
c.*1744C>G (n.*1744C>G)
c.866C>G (p.Thr289Arg)
n.1614G>C
c.2000C>G (p.Thr667Arg)
c.1991C>G (p.Thr664Arg)
c.2018C>G (p.Thr673Arg)
c.2015C>G (p.Thr672Arg)
c.1997C>G (p.Thr666Arg)
c.1940C>G (p.Thr647Arg)
c.1874C>G (p.Thr625Arg)
c.440C>G (p.Thr147Arg)
c.1853C>G (p.Thr618Arg)
c.1988C>G (p.Thr663Arg)
c.1994C>G (p.Thr665Arg)
c.1910C>G (p.Thr637Arg)
c.1838C>G (p.Thr613Arg)
c.1772C>G (p.Thr591Arg)
c.1133C>G (p.Thr378Arg)
c.1751C>G (p.Thr584Arg)
9g.137776835C>TCA375777044EHMT1c.2009C>T (p.Thr670Ile)
c.1895C>T (p.Thr632Ile)
c.1916C>T (p.Thr639Ile)
c.2049C>T (n.2049C>T)
c.1636C>T
c.1178C>T (p.Thr393Ile)
c.*1744C>T (n.*1744C>T)
c.866C>T (p.Thr289Ile)
n.1614G>A
c.2000C>T (p.Thr667Ile)
c.1991C>T (p.Thr664Ile)
c.2018C>T (p.Thr673Ile)
c.2015C>T (p.Thr672Ile)
c.1997C>T (p.Thr666Ile)
c.1940C>T (p.Thr647Ile)
c.1874C>T (p.Thr625Ile)
c.440C>T (p.Thr147Ile)
c.1853C>T (p.Thr618Ile)
c.1988C>T (p.Thr663Ile)
c.1994C>T (p.Thr665Ile)
c.1910C>T (p.Thr637Ile)
c.1838C>T (p.Thr613Ile)
c.1772C>T (p.Thr591Ile)
c.1133C>T (p.Thr378Ile)
c.1751C>T (p.Thr584Ile)
 gnomAD v4
9g.137776836A=CA1884666531EHMT1c.2010A= (p.Thr670=)
c.1896A= (p.Thr632=)
c.1917A= (p.Thr639=)
c.2050A= (n.2050A=)
c.1637A=
c.1179A= (p.Thr393=)
c.*1745A= (n.*1745A=)
c.867A= (p.Thr289=)
n.1613T=
c.2001A= (p.Thr667=)
c.1992A= (p.Thr664=)
c.2019A= (p.Thr673=)
c.2016A= (p.Thr672=)
c.1998A= (p.Thr666=)
c.1941A= (p.Thr647=)
c.1875A= (p.Thr625=)
c.441A= (p.Thr147=)
c.1854A= (p.Thr618=)
c.1989A= (p.Thr663=)
c.1995A= (p.Thr665=)
c.1911A= (p.Thr637=)
c.1839A= (p.Thr613=)
c.1773A= (p.Thr591=)
c.1134A= (p.Thr378=)
c.1752A= (p.Thr584=)
9g.137776836A>CCA467874164EHMT1c.2010A>C (p.Thr670=)
c.1896A>C (p.Thr632=)
c.1917A>C (p.Thr639=)
c.2050A>C (n.2050A>C)
c.1637A>C
c.1179A>C (p.Thr393=)
c.*1745A>C (n.*1745A>C)
c.867A>C (p.Thr289=)
n.1613T>G
c.2001A>C (p.Thr667=)
c.1992A>C (p.Thr664=)
c.2019A>C (p.Thr673=)
c.2016A>C (p.Thr672=)
c.1998A>C (p.Thr666=)
c.1941A>C (p.Thr647=)
c.1875A>C (p.Thr625=)
c.441A>C (p.Thr147=)
c.1854A>C (p.Thr618=)
c.1989A>C (p.Thr663=)
c.1995A>C (p.Thr665=)
c.1911A>C (p.Thr637=)
c.1839A>C (p.Thr613=)
c.1773A>C (p.Thr591=)
c.1134A>C (p.Thr378=)
c.1752A>C (p.Thr584=)
9g.137776836A>GCA467874165EHMT1c.2010A>G (p.Thr670=)
c.1896A>G (p.Thr632=)
c.1917A>G (p.Thr639=)
c.2050A>G (n.2050A>G)
c.1637A>G
c.1179A>G (p.Thr393=)
c.*1745A>G (n.*1745A>G)
c.867A>G (p.Thr289=)
n.1613T>C
c.2001A>G (p.Thr667=)
c.1992A>G (p.Thr664=)
c.2019A>G (p.Thr673=)
c.2016A>G (p.Thr672=)
c.1998A>G (p.Thr666=)
c.1941A>G (p.Thr647=)
c.1875A>G (p.Thr625=)
c.441A>G (p.Thr147=)
c.1854A>G (p.Thr618=)
c.1989A>G (p.Thr663=)
c.1995A>G (p.Thr665=)
c.1911A>G (p.Thr637=)
c.1839A>G (p.Thr613=)
c.1773A>G (p.Thr591=)
c.1134A>G (p.Thr378=)
c.1752A>G (p.Thr584=)
 dbSNP gnomAD v4
9g.137776836A>TCA5374769EHMT1c.2010A>T (p.Thr670=)
c.1896A>T (p.Thr632=)
c.1917A>T (p.Thr639=)
c.2050A>T (n.2050A>T)
c.1637A>T
c.1179A>T (p.Thr393=)
c.*1745A>T (n.*1745A>T)
c.867A>T (p.Thr289=)
n.1613T>A
c.2001A>T (p.Thr667=)
c.1992A>T (p.Thr664=)
c.2019A>T (p.Thr673=)
c.2016A>T (p.Thr672=)
c.1998A>T (p.Thr666=)
c.1941A>T (p.Thr647=)
c.1875A>T (p.Thr625=)
c.441A>T (p.Thr147=)
c.1854A>T (p.Thr618=)
c.1989A>T (p.Thr663=)
c.1995A>T (p.Thr665=)
c.1911A>T (p.Thr637=)
c.1839A>T (p.Thr613=)
c.1773A>T (p.Thr591=)
c.1134A>T (p.Thr378=)
c.1752A>T (p.Thr584=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137776837A=CA1884666532EHMT1c.2011A= (p.Thr671=)
c.1897A= (p.Thr633=)
c.1918A= (p.Thr640=)
c.2051A= (n.2051A=)
c.1638A=
c.1180A= (p.Thr394=)
c.*1746A= (n.*1746A=)
c.868A= (p.Thr290=)
n.1612T=
c.2002A= (p.Thr668=)
c.1993A= (p.Thr665=)
c.2020A= (p.Thr674=)
c.2017A= (p.Thr673=)
c.1999A= (p.Thr667=)
c.1942A= (p.Thr648=)
c.1876A= (p.Thr626=)
c.442A= (p.Thr148=)
c.1855A= (p.Thr619=)
c.1990A= (p.Thr664=)
c.1996A= (p.Thr666=)
c.1912A= (p.Thr638=)
c.1840A= (p.Thr614=)
c.1774A= (p.Thr592=)
c.1135A= (p.Thr379=)
c.1753A= (p.Thr585=)
9g.137776837A>CCA375777047EHMT1c.2011A>C (p.Thr671Pro)
c.1897A>C (p.Thr633Pro)
c.1918A>C (p.Thr640Pro)
c.2051A>C (n.2051A>C)
c.1638A>C
c.1180A>C (p.Thr394Pro)
c.*1746A>C (n.*1746A>C)
c.868A>C (p.Thr290Pro)
n.1612T>G
c.2002A>C (p.Thr668Pro)
c.1993A>C (p.Thr665Pro)
c.2020A>C (p.Thr674Pro)
c.2017A>C (p.Thr673Pro)
c.1999A>C (p.Thr667Pro)
c.1942A>C (p.Thr648Pro)
c.1876A>C (p.Thr626Pro)
c.442A>C (p.Thr148Pro)
c.1855A>C (p.Thr619Pro)
c.1990A>C (p.Thr664Pro)
c.1996A>C (p.Thr666Pro)
c.1912A>C (p.Thr638Pro)
c.1840A>C (p.Thr614Pro)
c.1774A>C (p.Thr592Pro)
c.1135A>C (p.Thr379Pro)
c.1753A>C (p.Thr585Pro)
9g.137776837A>GCA206024EHMT1c.2011A>G (p.Thr671Ala)
c.1897A>G (p.Thr633Ala)
c.1918A>G (p.Thr640Ala)
c.2051A>G (n.2051A>G)
c.1638A>G
c.1180A>G (p.Thr394Ala)
c.*1746A>G (n.*1746A>G)
c.868A>G (p.Thr290Ala)
n.1612T>C
c.2002A>G (p.Thr668Ala)
c.1993A>G (p.Thr665Ala)
c.2020A>G (p.Thr674Ala)
c.2017A>G (p.Thr673Ala)
c.1999A>G (p.Thr667Ala)
c.1942A>G (p.Thr648Ala)
c.1876A>G (p.Thr626Ala)
c.442A>G (p.Thr148Ala)
c.1855A>G (p.Thr619Ala)
c.1990A>G (p.Thr664Ala)
c.1996A>G (p.Thr666Ala)
c.1912A>G (p.Thr638Ala)
c.1840A>G (p.Thr614Ala)
c.1774A>G (p.Thr592Ala)
c.1135A>G (p.Thr379Ala)
c.1753A>G (p.Thr585Ala)
 ClinVar dbSNP gnomAD v4
9g.137776837A>TCA375777045EHMT1c.2011A>T (p.Thr671Ser)
c.1897A>T (p.Thr633Ser)
c.1918A>T (p.Thr640Ser)
c.2051A>T (n.2051A>T)
c.1638A>T
c.1180A>T (p.Thr394Ser)
c.*1746A>T (n.*1746A>T)
c.868A>T (p.Thr290Ser)
n.1612T>A
c.2002A>T (p.Thr668Ser)
c.1993A>T (p.Thr665Ser)
c.2020A>T (p.Thr674Ser)
c.2017A>T (p.Thr673Ser)
c.1999A>T (p.Thr667Ser)
c.1942A>T (p.Thr648Ser)
c.1876A>T (p.Thr626Ser)
c.442A>T (p.Thr148Ser)
c.1855A>T (p.Thr619Ser)
c.1990A>T (p.Thr664Ser)
c.1996A>T (p.Thr666Ser)
c.1912A>T (p.Thr638Ser)
c.1840A>T (p.Thr614Ser)
c.1774A>T (p.Thr592Ser)
c.1135A>T (p.Thr379Ser)
c.1753A>T (p.Thr585Ser)
9g.137776838C>ACA375777050EHMT1c.2012C>A (p.Thr671Lys)
c.1898C>A (p.Thr633Lys)
c.1919C>A (p.Thr640Lys)
c.2052C>A (n.2052C>A)
c.1639C>A
c.1181C>A (p.Thr394Lys)
c.*1747C>A (n.*1747C>A)
c.869C>A (p.Thr290Lys)
n.1611G>T
c.2003C>A (p.Thr668Lys)
c.1994C>A (p.Thr665Lys)
c.2021C>A (p.Thr674Lys)
c.2018C>A (p.Thr673Lys)
c.2000C>A (p.Thr667Lys)
c.1943C>A (p.Thr648Lys)
c.1877C>A (p.Thr626Lys)
c.443C>A (p.Thr148Lys)
c.1856C>A (p.Thr619Lys)
c.1991C>A (p.Thr664Lys)
c.1997C>A (p.Thr666Lys)
c.1913C>A (p.Thr638Lys)
c.1841C>A (p.Thr614Lys)
c.1775C>A (p.Thr592Lys)
c.1136C>A (p.Thr379Lys)
c.1754C>A (p.Thr585Lys)
9g.137776838C=CA1884666533EHMT1c.2012C= (p.Thr671=)
c.1898C= (p.Thr633=)
c.1919C= (p.Thr640=)
c.2052C= (n.2052C=)
c.1639C=
c.1181C= (p.Thr394=)
c.*1747C= (n.*1747C=)
c.869C= (p.Thr290=)
n.1611G=
c.2003C= (p.Thr668=)
c.1994C= (p.Thr665=)
c.2021C= (p.Thr674=)
c.2018C= (p.Thr673=)
c.2000C= (p.Thr667=)
c.1943C= (p.Thr648=)
c.1877C= (p.Thr626=)
c.443C= (p.Thr148=)
c.1856C= (p.Thr619=)
c.1991C= (p.Thr664=)
c.1997C= (p.Thr666=)
c.1913C= (p.Thr638=)
c.1841C= (p.Thr614=)
c.1775C= (p.Thr592=)
c.1136C= (p.Thr379=)
c.1754C= (p.Thr585=)
9g.137776838C>GCA375777053EHMT1c.2012C>G (p.Thr671Arg)
c.1898C>G (p.Thr633Arg)
c.1919C>G (p.Thr640Arg)
c.2052C>G (n.2052C>G)
c.1639C>G
c.1181C>G (p.Thr394Arg)
c.*1747C>G (n.*1747C>G)
c.869C>G (p.Thr290Arg)
n.1611G>C
c.2003C>G (p.Thr668Arg)
c.1994C>G (p.Thr665Arg)
c.2021C>G (p.Thr674Arg)
c.2018C>G (p.Thr673Arg)
c.2000C>G (p.Thr667Arg)
c.1943C>G (p.Thr648Arg)
c.1877C>G (p.Thr626Arg)
c.443C>G (p.Thr148Arg)
c.1856C>G (p.Thr619Arg)
c.1991C>G (p.Thr664Arg)
c.1997C>G (p.Thr666Arg)
c.1913C>G (p.Thr638Arg)
c.1841C>G (p.Thr614Arg)
c.1775C>G (p.Thr592Arg)
c.1136C>G (p.Thr379Arg)
c.1754C>G (p.Thr585Arg)
9g.137776838C>TCA5374770EHMT1c.2012C>T (p.Thr671Met)
c.1898C>T (p.Thr633Met)
c.1919C>T (p.Thr640Met)
c.2052C>T (n.2052C>T)
c.1639C>T
c.1181C>T (p.Thr394Met)
c.*1747C>T (n.*1747C>T)
c.869C>T (p.Thr290Met)
n.1611G>A
c.2003C>T (p.Thr668Met)
c.1994C>T (p.Thr665Met)
c.2021C>T (p.Thr674Met)
c.2018C>T (p.Thr673Met)
c.2000C>T (p.Thr667Met)
c.1943C>T (p.Thr648Met)
c.1877C>T (p.Thr626Met)
c.443C>T (p.Thr148Met)
c.1856C>T (p.Thr619Met)
c.1991C>T (p.Thr664Met)
c.1997C>T (p.Thr666Met)
c.1913C>T (p.Thr638Met)
c.1841C>T (p.Thr614Met)
c.1775C>T (p.Thr592Met)
c.1136C>T (p.Thr379Met)
c.1754C>T (p.Thr585Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137776839G>ACA467874166EHMT1c.2013G>A (p.Thr671=)
c.1899G>A (p.Thr633=)
c.1920G>A (p.Thr640=)
c.2053G>A (n.2053G>A)
c.1640G>A
c.1182G>A (p.Thr394=)
c.*1748G>A (n.*1748G>A)
c.870G>A (p.Thr290=)
n.1610C>T
c.2004G>A (p.Thr668=)
c.1995G>A (p.Thr665=)
c.2022G>A (p.Thr674=)
c.2019G>A (p.Thr673=)
c.2001G>A (p.Thr667=)
c.1944G>A (p.Thr648=)
c.1878G>A (p.Thr626=)
c.444G>A (p.Thr148=)
c.1857G>A (p.Thr619=)
c.1992G>A (p.Thr664=)
c.1998G>A (p.Thr666=)
c.1914G>A (p.Thr638=)
c.1842G>A (p.Thr614=)
c.1776G>A (p.Thr592=)
c.1137G>A (p.Thr379=)
c.1755G>A (p.Thr585=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137776839G>CCA467874167EHMT1c.2013G>C (p.Thr671=)
c.1899G>C (p.Thr633=)
c.1920G>C (p.Thr640=)
c.2053G>C (n.2053G>C)
c.1640G>C
c.1182G>C (p.Thr394=)
c.*1748G>C (n.*1748G>C)
c.870G>C (p.Thr290=)
n.1610C>G
c.2004G>C (p.Thr668=)
c.1995G>C (p.Thr665=)
c.2022G>C (p.Thr674=)
c.2019G>C (p.Thr673=)
c.2001G>C (p.Thr667=)
c.1944G>C (p.Thr648=)
c.1878G>C (p.Thr626=)
c.444G>C (p.Thr148=)
c.1857G>C (p.Thr619=)
c.1992G>C (p.Thr664=)
c.1998G>C (p.Thr666=)
c.1914G>C (p.Thr638=)
c.1842G>C (p.Thr614=)
c.1776G>C (p.Thr592=)
c.1137G>C (p.Thr379=)
c.1755G>C (p.Thr585=)
9g.137776839G=CA1884666534EHMT1c.2013G= (p.Thr671=)
c.1899G= (p.Thr633=)
c.1920G= (p.Thr640=)
c.2053G= (n.2053G=)
c.1640G=
c.1182G= (p.Thr394=)
c.*1748G= (n.*1748G=)
c.870G= (p.Thr290=)
n.1610C=
c.2004G= (p.Thr668=)
c.1995G= (p.Thr665=)
c.2022G= (p.Thr674=)
c.2019G= (p.Thr673=)
c.2001G= (p.Thr667=)
c.1944G= (p.Thr648=)
c.1878G= (p.Thr626=)
c.444G= (p.Thr148=)
c.1857G= (p.Thr619=)
c.1992G= (p.Thr664=)
c.1998G= (p.Thr666=)
c.1914G= (p.Thr638=)
c.1842G= (p.Thr614=)
c.1776G= (p.Thr592=)
c.1137G= (p.Thr379=)
c.1755G= (p.Thr585=)
9g.137776839G>TCA5374771EHMT1c.2013G>T (p.Thr671=)
c.1899G>T (p.Thr633=)
c.1920G>T (p.Thr640=)
c.2053G>T (n.2053G>T)
c.1640G>T
c.1182G>T (p.Thr394=)
c.*1748G>T (n.*1748G>T)
c.870G>T (p.Thr290=)
n.1610C>A
c.2004G>T (p.Thr668=)
c.1995G>T (p.Thr665=)
c.2022G>T (p.Thr674=)
c.2019G>T (p.Thr673=)
c.2001G>T (p.Thr667=)
c.1944G>T (p.Thr648=)
c.1878G>T (p.Thr626=)
c.444G>T (p.Thr148=)
c.1857G>T (p.Thr619=)
c.1992G>T (p.Thr664=)
c.1998G>T (p.Thr666=)
c.1914G>T (p.Thr638=)
c.1842G>T (p.Thr614=)
c.1776G>T (p.Thr592=)
c.1137G>T (p.Thr379=)
c.1755G>T (p.Thr585=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137776840G>ACA375777055EHMT1c.2014G>A (p.Gly672Ser)
c.1900G>A (p.Gly634Ser)
c.1921G>A (p.Gly641Ser)
c.2054G>A (n.2054G>A)
c.1641G>A
c.1183G>A
c.*1749G>A (n.*1749G>A)
c.871G>A (p.Gly291Ser)
n.1609C>T
c.2005G>A (p.Gly669Ser)
c.1996G>A (p.Gly666Ser)
c.2023G>A (p.Gly675Ser)
c.2020G>A (p.Gly674Ser)
c.2002G>A (p.Gly668Ser)
c.1945G>A (p.Gly649Ser)
c.1879G>A (p.Gly627Ser)
c.445G>A (p.Gly149Ser)
c.1858G>A (p.Gly620Ser)
c.1993G>A (p.Gly665Ser)
c.1999G>A (p.Gly667Ser)
c.1915G>A (p.Gly639Ser)
c.1843G>A (p.Gly615Ser)
c.1777G>A (p.Gly593Ser)
c.1138G>A (p.Gly380Ser)
c.1756G>A (p.Gly586Ser)
9g.137776840G>CCA375777058EHMT1c.2014G>C (p.Gly672Arg)
c.1900G>C (p.Gly634Arg)
c.1921G>C (p.Gly641Arg)
c.2054G>C (n.2054G>C)
c.1641G>C
c.1183G>C
c.*1749G>C (n.*1749G>C)
c.871G>C (p.Gly291Arg)
n.1609C>G
c.2005G>C (p.Gly669Arg)
c.1996G>C (p.Gly666Arg)
c.2023G>C (p.Gly675Arg)
c.2020G>C (p.Gly674Arg)
c.2002G>C (p.Gly668Arg)
c.1945G>C (p.Gly649Arg)
c.1879G>C (p.Gly627Arg)
c.445G>C (p.Gly149Arg)
c.1858G>C (p.Gly620Arg)
c.1993G>C (p.Gly665Arg)
c.1999G>C (p.Gly667Arg)
c.1915G>C (p.Gly639Arg)
c.1843G>C (p.Gly615Arg)
c.1777G>C (p.Gly593Arg)
c.1138G>C (p.Gly380Arg)
c.1756G>C (p.Gly586Arg)
9g.137776840G>TCA375777060EHMT1c.2014G>T (p.Gly672Cys)
c.1900G>T (p.Gly634Cys)
c.1921G>T (p.Gly641Cys)
c.2054G>T (n.2054G>T)
c.1641G>T
c.1183G>T
c.*1749G>T (n.*1749G>T)
c.871G>T (p.Gly291Cys)
n.1609C>A
c.2005G>T (p.Gly669Cys)
c.1996G>T (p.Gly666Cys)
c.2023G>T (p.Gly675Cys)
c.2020G>T (p.Gly674Cys)
c.2002G>T (p.Gly668Cys)
c.1945G>T (p.Gly649Cys)
c.1879G>T (p.Gly627Cys)
c.445G>T (p.Gly149Cys)
c.1858G>T (p.Gly620Cys)
c.1993G>T (p.Gly665Cys)
c.1999G>T (p.Gly667Cys)
c.1915G>T (p.Gly639Cys)
c.1843G>T (p.Gly615Cys)
c.1777G>T (p.Gly593Cys)
c.1138G>T (p.Gly380Cys)
c.1756G>T (p.Gly586Cys)
 gnomAD v4
9g.137776841G>ACA375777061EHMT1c.2015G>A (p.Gly672Asp)
c.1901G>A (p.Gly634Asp)
c.1922G>A (p.Gly641Asp)
c.2055G>A (n.2055G>A)
c.1642G>A
c.*1750G>A (n.*1750G>A)
c.872G>A (p.Gly291Asp)
n.1608C>T
c.2006G>A (p.Gly669Asp)
c.1997G>A (p.Gly666Asp)
c.2024G>A (p.Gly675Asp)
c.2021G>A (p.Gly674Asp)
c.2003G>A (p.Gly668Asp)
c.1946G>A (p.Gly649Asp)
c.1880G>A (p.Gly627Asp)
c.446G>A (p.Gly149Asp)
c.1859G>A (p.Gly620Asp)
c.1994G>A (p.Gly665Asp)
c.2000G>A (p.Gly667Asp)
c.1916G>A (p.Gly639Asp)
c.1844G>A (p.Gly615Asp)
c.1778G>A (p.Gly593Asp)
c.1139G>A (p.Gly380Asp)
c.1757G>A (p.Gly586Asp)
 ClinVar dbSNP
9g.137776841G>CCA375777063EHMT1c.2015G>C (p.Gly672Ala)
c.1901G>C (p.Gly634Ala)
c.1922G>C (p.Gly641Ala)
c.2055G>C (n.2055G>C)
c.1642G>C
c.*1750G>C (n.*1750G>C)
c.872G>C (p.Gly291Ala)
n.1608C>G
c.2006G>C (p.Gly669Ala)
c.1997G>C (p.Gly666Ala)
c.2024G>C (p.Gly675Ala)
c.2021G>C (p.Gly674Ala)
c.2003G>C (p.Gly668Ala)
c.1946G>C (p.Gly649Ala)
c.1880G>C (p.Gly627Ala)
c.446G>C (p.Gly149Ala)
c.1859G>C (p.Gly620Ala)
c.1994G>C (p.Gly665Ala)
c.2000G>C (p.Gly667Ala)
c.1916G>C (p.Gly639Ala)
c.1844G>C (p.Gly615Ala)
c.1778G>C (p.Gly593Ala)
c.1139G>C (p.Gly380Ala)
c.1757G>C (p.Gly586Ala)
9g.137776841G=CA1884666535EHMT1c.2015G= (p.Gly672=)
c.1901G= (p.Gly634=)
c.1922G= (p.Gly641=)
c.2055G= (n.2055G=)
c.1642G=
c.*1750G= (n.*1750G=)
c.872G= (p.Gly291=)
n.1608C=
c.2006G= (p.Gly669=)
c.1997G= (p.Gly666=)
c.2024G= (p.Gly675=)
c.2021G= (p.Gly674=)
c.2003G= (p.Gly668=)
c.1946G= (p.Gly649=)
c.1880G= (p.Gly627=)
c.446G= (p.Gly149=)
c.1859G= (p.Gly620=)
c.1994G= (p.Gly665=)
c.2000G= (p.Gly667=)
c.1916G= (p.Gly639=)
c.1844G= (p.Gly615=)
c.1778G= (p.Gly593=)
c.1139G= (p.Gly380=)
c.1757G= (p.Gly586=)
9g.137776841G>TCA375777065EHMT1c.2015G>T (p.Gly672Val)
c.1901G>T (p.Gly634Val)
c.1922G>T (p.Gly641Val)
c.2055G>T (n.2055G>T)
c.1642G>T
c.*1750G>T (n.*1750G>T)
c.872G>T (p.Gly291Val)
n.1608C>A
c.2006G>T (p.Gly669Val)
c.1997G>T (p.Gly666Val)
c.2024G>T (p.Gly675Val)
c.2021G>T (p.Gly674Val)
c.2003G>T (p.Gly668Val)
c.1946G>T (p.Gly649Val)
c.1880G>T (p.Gly627Val)
c.446G>T (p.Gly149Val)
c.1859G>T (p.Gly620Val)
c.1994G>T (p.Gly665Val)
c.2000G>T (p.Gly667Val)
c.1916G>T (p.Gly639Val)
c.1844G>T (p.Gly615Val)
c.1778G>T (p.Gly593Val)
c.1139G>T (p.Gly380Val)
c.1757G>T (p.Gly586Val)
9g.137776842C>ACA467874169EHMT1c.2016C>A (p.Gly672=)
c.1902C>A (p.Gly634=)
c.1923C>A (p.Gly641=)
c.2056C>A (n.2056C>A)
c.1643C>A
c.*1751C>A (n.*1751C>A)
c.873C>A (p.Gly291=)
n.1607G>T
c.2007C>A (p.Gly669=)
c.1998C>A (p.Gly666=)
c.2025C>A (p.Gly675=)
c.2022C>A (p.Gly674=)
c.2004C>A (p.Gly668=)
c.1947C>A (p.Gly649=)
c.1881C>A (p.Gly627=)
c.447C>A (p.Gly149=)
c.1860C>A (p.Gly620=)
c.1995C>A (p.Gly665=)
c.2001C>A (p.Gly667=)
c.1917C>A (p.Gly639=)
c.1845C>A (p.Gly615=)
c.1779C>A (p.Gly593=)
c.1140C>A (p.Gly380=)
c.1758C>A (p.Gly586=)
9g.137776842C>GCA467874170EHMT1c.2016C>G (p.Gly672=)
c.1902C>G (p.Gly634=)
c.1923C>G (p.Gly641=)
c.2056C>G (n.2056C>G)
c.1643C>G
c.*1751C>G (n.*1751C>G)
c.873C>G (p.Gly291=)
n.1607G>C
c.2007C>G (p.Gly669=)
c.1998C>G (p.Gly666=)
c.2025C>G (p.Gly675=)
c.2022C>G (p.Gly674=)
c.2004C>G (p.Gly668=)
c.1947C>G (p.Gly649=)
c.1881C>G (p.Gly627=)
c.447C>G (p.Gly149=)
c.1860C>G (p.Gly620=)
c.1995C>G (p.Gly665=)
c.2001C>G (p.Gly667=)
c.1917C>G (p.Gly639=)
c.1845C>G (p.Gly615=)
c.1779C>G (p.Gly593=)
c.1140C>G (p.Gly380=)
c.1758C>G (p.Gly586=)
9g.137776842C>TCA467874168EHMT1c.2016C>T (p.Gly672=)
c.1902C>T (p.Gly634=)
c.1923C>T (p.Gly641=)
c.2056C>T (n.2056C>T)
c.1643C>T
c.*1751C>T (n.*1751C>T)
c.873C>T (p.Gly291=)
n.1607G>A
c.2007C>T (p.Gly669=)
c.1998C>T (p.Gly666=)
c.2025C>T (p.Gly675=)
c.2022C>T (p.Gly674=)
c.2004C>T (p.Gly668=)
c.1947C>T (p.Gly649=)
c.1881C>T (p.Gly627=)
c.447C>T (p.Gly149=)
c.1860C>T (p.Gly620=)
c.1995C>T (p.Gly665=)
c.2001C>T (p.Gly667=)
c.1917C>T (p.Gly639=)
c.1845C>T (p.Gly615=)
c.1779C>T (p.Gly593=)
c.1140C>T (p.Gly380=)
c.1758C>T (p.Gly586=)
 ClinVar dbSNP
9g.137776843A>CCA375777068EHMT1c.2017A>C (p.Ser673Arg)
c.1903A>C (p.Ser635Arg)
c.1924A>C (p.Ser642Arg)
c.2057A>C (n.2057A>C)
c.1644A>C
c.*1752A>C (n.*1752A>C)
c.874A>C (p.Ser292Arg)
n.1606T>G
c.2008A>C (p.Ser670Arg)
c.1999A>C (p.Ser667Arg)
c.2026A>C (p.Ser676Arg)
c.2023A>C (p.Ser675Arg)
c.2005A>C (p.Ser669Arg)
c.1948A>C (p.Ser650Arg)
c.1882A>C (p.Ser628Arg)
c.448A>C (p.Ser150Arg)
c.1861A>C (p.Ser621Arg)
c.1996A>C (p.Ser666Arg)
c.2002A>C (p.Ser668Arg)
c.1918A>C (p.Ser640Arg)
c.1846A>C (p.Ser616Arg)
c.1780A>C (p.Ser594Arg)
c.1141A>C (p.Ser381Arg)
c.1759A>C (p.Ser587Arg)
9g.137776843A>GCA375777071EHMT1c.2017A>G (p.Ser673Gly)
c.1903A>G (p.Ser635Gly)
c.1924A>G (p.Ser642Gly)
c.2057A>G (n.2057A>G)
c.1644A>G
c.*1752A>G (n.*1752A>G)
c.874A>G (p.Ser292Gly)
n.1606T>C
c.2008A>G (p.Ser670Gly)
c.1999A>G (p.Ser667Gly)
c.2026A>G (p.Ser676Gly)
c.2023A>G (p.Ser675Gly)
c.2005A>G (p.Ser669Gly)
c.1948A>G (p.Ser650Gly)
c.1882A>G (p.Ser628Gly)
c.448A>G (p.Ser150Gly)
c.1861A>G (p.Ser621Gly)
c.1996A>G (p.Ser666Gly)
c.2002A>G (p.Ser668Gly)
c.1918A>G (p.Ser640Gly)
c.1846A>G (p.Ser616Gly)
c.1780A>G (p.Ser594Gly)
c.1141A>G (p.Ser381Gly)
c.1759A>G (p.Ser587Gly)
9g.137776843A>TCA375777073EHMT1c.2017A>T (p.Ser673Cys)
c.1903A>T (p.Ser635Cys)
c.1924A>T (p.Ser642Cys)
c.2057A>T (n.2057A>T)
c.1644A>T
c.*1752A>T (n.*1752A>T)
c.874A>T (p.Ser292Cys)
n.1606T>A
c.2008A>T (p.Ser670Cys)
c.1999A>T (p.Ser667Cys)
c.2026A>T (p.Ser676Cys)
c.2023A>T (p.Ser675Cys)
c.2005A>T (p.Ser669Cys)
c.1948A>T (p.Ser650Cys)
c.1882A>T (p.Ser628Cys)
c.448A>T (p.Ser150Cys)
c.1861A>T (p.Ser621Cys)
c.1996A>T (p.Ser666Cys)
c.2002A>T (p.Ser668Cys)
c.1918A>T (p.Ser640Cys)
c.1846A>T (p.Ser616Cys)
c.1780A>T (p.Ser594Cys)
c.1141A>T (p.Ser381Cys)
c.1759A>T (p.Ser587Cys)
9g.137776844G>ACA375777074EHMT1c.2018G>A (p.Ser673Asn)
c.1904G>A (p.Ser635Asn)
c.1925G>A (p.Ser642Asn)
c.2058G>A (n.2058G>A)
c.1645G>A
c.*1753G>A (n.*1753G>A)
c.875G>A (p.Ser292Asn)
n.1605C>T
c.2009G>A (p.Ser670Asn)
c.2000G>A (p.Ser667Asn)
c.2027G>A (p.Ser676Asn)
c.2024G>A (p.Ser675Asn)
c.2006G>A (p.Ser669Asn)
c.1949G>A (p.Ser650Asn)
c.1883G>A (p.Ser628Asn)
c.449G>A (p.Ser150Asn)
c.1862G>A (p.Ser621Asn)
c.1997G>A (p.Ser666Asn)
c.2003G>A (p.Ser668Asn)
c.1919G>A (p.Ser640Asn)
c.1847G>A (p.Ser616Asn)
c.1781G>A (p.Ser594Asn)
c.1142G>A (p.Ser381Asn)
c.1760G>A (p.Ser587Asn)
9g.137776844G>CCA375777076EHMT1c.2018G>C (p.Ser673Thr)
c.1904G>C (p.Ser635Thr)
c.1925G>C (p.Ser642Thr)
c.2058G>C (n.2058G>C)
c.1645G>C
c.*1753G>C (n.*1753G>C)
c.875G>C (p.Ser292Thr)
n.1605C>G
c.2009G>C (p.Ser670Thr)
c.2000G>C (p.Ser667Thr)
c.2027G>C (p.Ser676Thr)
c.2024G>C (p.Ser675Thr)
c.2006G>C (p.Ser669Thr)
c.1949G>C (p.Ser650Thr)
c.1883G>C (p.Ser628Thr)
c.449G>C (p.Ser150Thr)
c.1862G>C (p.Ser621Thr)
c.1997G>C (p.Ser666Thr)
c.2003G>C (p.Ser668Thr)
c.1919G>C (p.Ser640Thr)
c.1847G>C (p.Ser616Thr)
c.1781G>C (p.Ser594Thr)
c.1142G>C (p.Ser381Thr)
c.1760G>C (p.Ser587Thr)
9g.137776844G>TCA375777079EHMT1c.2018G>T (p.Ser673Ile)
c.1904G>T (p.Ser635Ile)
c.1925G>T (p.Ser642Ile)
c.2058G>T (n.2058G>T)
c.1645G>T
c.*1753G>T (n.*1753G>T)
c.875G>T (p.Ser292Ile)
n.1605C>A
c.2009G>T (p.Ser670Ile)
c.2000G>T (p.Ser667Ile)
c.2027G>T (p.Ser676Ile)
c.2024G>T (p.Ser675Ile)
c.2006G>T (p.Ser669Ile)
c.1949G>T (p.Ser650Ile)
c.1883G>T (p.Ser628Ile)
c.449G>T (p.Ser150Ile)
c.1862G>T (p.Ser621Ile)
c.1997G>T (p.Ser666Ile)
c.2003G>T (p.Ser668Ile)
c.1919G>T (p.Ser640Ile)
c.1847G>T (p.Ser616Ile)
c.1781G>T (p.Ser594Ile)
c.1142G>T (p.Ser381Ile)
c.1760G>T (p.Ser587Ile)
9g.137776844_137776845insTGCTCA2721088370EHMT1c.2018_2018+1insTGCT (n.2018_2018+1insTGCT)
c.1904_1904+1insTGCT (n.1904_1904+1insTGCT)
c.1925_1925+1insTGCT (n.1925_1925+1insTGCT)
c.2058_2058+1insTGCT (n.2058_2058+1insTGCT)
c.1645_1645+1insTGCT
c.*1753_*1753+1insTGCT (n.*1753_*1753+1insTGCT)
c.875_875+1insTGCT (n.875_875+1insTGCT)
n.1604_1605insAGCA
c.2009_2009+1insTGCT (n.2009_2009+1insTGCT)
c.2000_2000+1insTGCT (n.2000_2000+1insTGCT)
c.2027_2027+1insTGCT (n.2027_2027+1insTGCT)
c.2024_2024+1insTGCT (n.2024_2024+1insTGCT)
c.2006_2006+1insTGCT (n.2006_2006+1insTGCT)
c.1949_1949+1insTGCT (n.1949_1949+1insTGCT)
c.1883_1883+1insTGCT (n.1883_1883+1insTGCT)
c.449_449+1insTGCT (n.449_449+1insTGCT)
c.1862_1862+1insTGCT (n.1862_1862+1insTGCT)
c.1997_1997+1insTGCT (n.1997_1997+1insTGCT)
c.2003_2003+1insTGCT (n.2003_2003+1insTGCT)
c.1919_1919+1insTGCT (n.1919_1919+1insTGCT)
c.1847_1847+1insTGCT (n.1847_1847+1insTGCT)
c.1781_1781+1insTGCT (n.1781_1781+1insTGCT)
c.1142_1142+1insTGCT (n.1142_1142+1insTGCT)
c.1760_1760+1insTGCT (n.1760_1760+1insTGCT)
 dbSNP
9g.137776845G>ACA375777081EHMT1c.2018+1G>A (n.2018+1G>A)
c.1904+1G>A (n.1904+1G>A)
c.1925+1G>A (n.1925+1G>A)
c.2058+1G>A (n.2058+1G>A)
c.1645+1G>A
c.*1753+1G>A (n.*1753+1G>A)
c.875+1G>A (n.875+1G>A)
n.1604C>T
c.2009+1G>A (n.2009+1G>A)
c.2000+1G>A (n.2000+1G>A)
c.2027+1G>A (n.2027+1G>A)
c.2024+1G>A (n.2024+1G>A)
c.2006+1G>A (n.2006+1G>A)
c.1949+1G>A (n.1949+1G>A)
c.1883+1G>A (n.1883+1G>A)
c.449+1G>A (n.449+1G>A)
c.1862+1G>A (n.1862+1G>A)
c.1997+1G>A (n.1997+1G>A)
c.2003+1G>A (n.2003+1G>A)
c.1919+1G>A (n.1919+1G>A)
c.1847+1G>A (n.1847+1G>A)
c.1781+1G>A (n.1781+1G>A)
c.1142+1G>A (n.1142+1G>A)
c.1760+1G>A (n.1760+1G>A)
 ClinVar dbSNP
9g.137776845G>CCA375777087EHMT1c.2018+1G>C (n.2018+1G>C)
c.1904+1G>C (n.1904+1G>C)
c.1925+1G>C (n.1925+1G>C)
c.2058+1G>C (n.2058+1G>C)
c.1645+1G>C
c.*1753+1G>C (n.*1753+1G>C)
c.875+1G>C (n.875+1G>C)
n.1604C>G
c.2009+1G>C (n.2009+1G>C)
c.2000+1G>C (n.2000+1G>C)
c.2027+1G>C (n.2027+1G>C)
c.2024+1G>C (n.2024+1G>C)
c.2006+1G>C (n.2006+1G>C)
c.1949+1G>C (n.1949+1G>C)
c.1883+1G>C (n.1883+1G>C)
c.449+1G>C (n.449+1G>C)
c.1862+1G>C (n.1862+1G>C)
c.1997+1G>C (n.1997+1G>C)
c.2003+1G>C (n.2003+1G>C)
c.1919+1G>C (n.1919+1G>C)
c.1847+1G>C (n.1847+1G>C)
c.1781+1G>C (n.1781+1G>C)
c.1142+1G>C (n.1142+1G>C)
c.1760+1G>C (n.1760+1G>C)
 ClinVar dbSNP
9g.137776845G=CA1884666536EHMT1c.2018+1G= (n.2018+1G=)
c.1904+1G= (n.1904+1G=)
c.1925+1G= (n.1925+1G=)
c.2058+1G= (n.2058+1G=)
c.1645+1G=
c.*1753+1G= (n.*1753+1G=)
c.875+1G= (n.875+1G=)
n.1604C=
c.2009+1G= (n.2009+1G=)
c.2000+1G= (n.2000+1G=)
c.2027+1G= (n.2027+1G=)
c.2024+1G= (n.2024+1G=)
c.2006+1G= (n.2006+1G=)
c.1949+1G= (n.1949+1G=)
c.1883+1G= (n.1883+1G=)
c.449+1G= (n.449+1G=)
c.1862+1G= (n.1862+1G=)
c.1997+1G= (n.1997+1G=)
c.2003+1G= (n.2003+1G=)
c.1919+1G= (n.1919+1G=)
c.1847+1G= (n.1847+1G=)
c.1781+1G= (n.1781+1G=)
c.1142+1G= (n.1142+1G=)
c.1760+1G= (n.1760+1G=)
9g.137776845G>TCA375777084EHMT1c.2018+1G>T (n.2018+1G>T)
c.1904+1G>T (n.1904+1G>T)
c.1925+1G>T (n.1925+1G>T)
c.2058+1G>T (n.2058+1G>T)
c.1645+1G>T
c.*1753+1G>T (n.*1753+1G>T)
c.875+1G>T (n.875+1G>T)
n.1604C>A
c.2009+1G>T (n.2009+1G>T)
c.2000+1G>T (n.2000+1G>T)
c.2027+1G>T (n.2027+1G>T)
c.2024+1G>T (n.2024+1G>T)
c.2006+1G>T (n.2006+1G>T)
c.1949+1G>T (n.1949+1G>T)
c.1883+1G>T (n.1883+1G>T)
c.449+1G>T (n.449+1G>T)
c.1862+1G>T (n.1862+1G>T)
c.1997+1G>T (n.1997+1G>T)
c.2003+1G>T (n.2003+1G>T)
c.1919+1G>T (n.1919+1G>T)
c.1847+1G>T (n.1847+1G>T)
c.1781+1G>T (n.1781+1G>T)
c.1142+1G>T (n.1142+1G>T)
c.1760+1G>T (n.1760+1G>T)
9g.137776846T>ACA375777092EHMT1c.2018+2T>A (n.2018+2T>A)
c.1904+2T>A (n.1904+2T>A)
c.1925+2T>A (n.1925+2T>A)
c.2058+2T>A (n.2058+2T>A)
c.1645+2T>A
c.*1753+2T>A (n.*1753+2T>A)
c.875+2T>A (n.875+2T>A)
n.1603A>T
c.2009+2T>A (n.2009+2T>A)
c.2000+2T>A (n.2000+2T>A)
c.2027+2T>A (n.2027+2T>A)
c.2024+2T>A (n.2024+2T>A)
c.2006+2T>A (n.2006+2T>A)
c.1949+2T>A (n.1949+2T>A)
c.1883+2T>A (n.1883+2T>A)
c.449+2T>A (n.449+2T>A)
c.1862+2T>A (n.1862+2T>A)
c.1997+2T>A (n.1997+2T>A)
c.2003+2T>A (n.2003+2T>A)
c.1919+2T>A (n.1919+2T>A)
c.1847+2T>A (n.1847+2T>A)
c.1781+2T>A (n.1781+2T>A)
c.1142+2T>A (n.1142+2T>A)
c.1760+2T>A (n.1760+2T>A)
9g.137776846T>CCA375777093EHMT1c.2018+2T>C (n.2018+2T>C)
c.1904+2T>C (n.1904+2T>C)
c.1925+2T>C (n.1925+2T>C)
c.2058+2T>C (n.2058+2T>C)
c.1645+2T>C
c.*1753+2T>C (n.*1753+2T>C)
c.875+2T>C (n.875+2T>C)
n.1603A>G
c.2009+2T>C (n.2009+2T>C)
c.2000+2T>C (n.2000+2T>C)
c.2027+2T>C (n.2027+2T>C)
c.2024+2T>C (n.2024+2T>C)
c.2006+2T>C (n.2006+2T>C)
c.1949+2T>C (n.1949+2T>C)
c.1883+2T>C (n.1883+2T>C)
c.449+2T>C (n.449+2T>C)
c.1862+2T>C (n.1862+2T>C)
c.1997+2T>C (n.1997+2T>C)
c.2003+2T>C (n.2003+2T>C)
c.1919+2T>C (n.1919+2T>C)
c.1847+2T>C (n.1847+2T>C)
c.1781+2T>C (n.1781+2T>C)
c.1142+2T>C (n.1142+2T>C)
c.1760+2T>C (n.1760+2T>C)
9g.137776846T>GCA375777096EHMT1c.2018+2T>G (n.2018+2T>G)
c.1904+2T>G (n.1904+2T>G)
c.1925+2T>G (n.1925+2T>G)
c.2058+2T>G (n.2058+2T>G)
c.1645+2T>G
c.*1753+2T>G (n.*1753+2T>G)
c.875+2T>G (n.875+2T>G)
n.1603A>C
c.2009+2T>G (n.2009+2T>G)
c.2000+2T>G (n.2000+2T>G)
c.2027+2T>G (n.2027+2T>G)
c.2024+2T>G (n.2024+2T>G)
c.2006+2T>G (n.2006+2T>G)
c.1949+2T>G (n.1949+2T>G)
c.1883+2T>G (n.1883+2T>G)
c.449+2T>G (n.449+2T>G)
c.1862+2T>G (n.1862+2T>G)
c.1997+2T>G (n.1997+2T>G)
c.2003+2T>G (n.2003+2T>G)
c.1919+2T>G (n.1919+2T>G)
c.1847+2T>G (n.1847+2T>G)
c.1781+2T>G (n.1781+2T>G)
c.1142+2T>G (n.1142+2T>G)
c.1760+2T>G (n.1760+2T>G)
 dbSNP
9g.137776846T=CA1884666537EHMT1c.2018+2T= (n.2018+2T=)
c.1904+2T= (n.1904+2T=)
c.1925+2T= (n.1925+2T=)
c.2058+2T= (n.2058+2T=)
c.1645+2T=
c.*1753+2T= (n.*1753+2T=)
c.875+2T= (n.875+2T=)
n.1603A=
c.2009+2T= (n.2009+2T=)
c.2000+2T= (n.2000+2T=)
c.2027+2T= (n.2027+2T=)
c.2024+2T= (n.2024+2T=)
c.2006+2T= (n.2006+2T=)
c.1949+2T= (n.1949+2T=)
c.1883+2T= (n.1883+2T=)
c.449+2T= (n.449+2T=)
c.1862+2T= (n.1862+2T=)
c.1997+2T= (n.1997+2T=)
c.2003+2T= (n.2003+2T=)
c.1919+2T= (n.1919+2T=)
c.1847+2T= (n.1847+2T=)
c.1781+2T= (n.1781+2T=)
c.1142+2T= (n.1142+2T=)
c.1760+2T= (n.1760+2T=)

Number of alleles fetched