Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137776698C>ACA467874074EHMT1c.1872C>A (p.Ala624=)
c.1758C>A (p.Ala586=)
c.1779C>A (p.Ala593=)
c.1912C>A (n.1912C>A)
c.1499C>A
c.1041C>A (p.Ala347=)
c.*1607C>A (n.*1607C>A)
c.729C>A (p.Ala243=)
c.420C>A (p.Ala140=)
n.1751G>T
c.1863C>A (p.Ala621=)
c.1854C>A (p.Ala618=)
c.1881C>A (p.Ala627=)
c.1878C>A (p.Ala626=)
c.1860C>A (p.Ala620=)
c.1803C>A (p.Ala601=)
c.1737C>A (p.Ala579=)
c.303C>A (p.Ala101=)
c.1716C>A (p.Ala572=)
c.1851C>A (p.Ala617=)
c.1857C>A (p.Ala619=)
c.1773C>A (p.Ala591=)
c.1701C>A (p.Ala567=)
c.1635C>A (p.Ala545=)
c.996C>A (p.Ala332=)
c.1614C>A (p.Ala538=)
9g.137776698C>GCA467874076EHMT1c.1872C>G (p.Ala624=)
c.1758C>G (p.Ala586=)
c.1779C>G (p.Ala593=)
c.1912C>G (n.1912C>G)
c.1499C>G
c.1041C>G (p.Ala347=)
c.*1607C>G (n.*1607C>G)
c.729C>G (p.Ala243=)
c.420C>G (p.Ala140=)
n.1751G>C
c.1863C>G (p.Ala621=)
c.1854C>G (p.Ala618=)
c.1881C>G (p.Ala627=)
c.1878C>G (p.Ala626=)
c.1860C>G (p.Ala620=)
c.1803C>G (p.Ala601=)
c.1737C>G (p.Ala579=)
c.303C>G (p.Ala101=)
c.1716C>G (p.Ala572=)
c.1851C>G (p.Ala617=)
c.1857C>G (p.Ala619=)
c.1773C>G (p.Ala591=)
c.1701C>G (p.Ala567=)
c.1635C>G (p.Ala545=)
c.996C>G (p.Ala332=)
c.1614C>G (p.Ala538=)
9g.137776698C>TCA467874075EHMT1c.1872C>T (p.Ala624=)
c.1758C>T (p.Ala586=)
c.1779C>T (p.Ala593=)
c.1912C>T (n.1912C>T)
c.1499C>T
c.1041C>T (p.Ala347=)
c.*1607C>T (n.*1607C>T)
c.729C>T (p.Ala243=)
c.420C>T (p.Ala140=)
n.1751G>A
c.1863C>T (p.Ala621=)
c.1854C>T (p.Ala618=)
c.1881C>T (p.Ala627=)
c.1878C>T (p.Ala626=)
c.1860C>T (p.Ala620=)
c.1803C>T (p.Ala601=)
c.1737C>T (p.Ala579=)
c.303C>T (p.Ala101=)
c.1716C>T (p.Ala572=)
c.1851C>T (p.Ala617=)
c.1857C>T (p.Ala619=)
c.1773C>T (p.Ala591=)
c.1701C>T (p.Ala567=)
c.1635C>T (p.Ala545=)
c.996C>T (p.Ala332=)
c.1614C>T (p.Ala538=)
 ClinVar gnomAD v4
9g.137776699A>CCA375776118EHMT1c.1873A>C (p.Ser625Arg)
c.1759A>C (p.Ser587Arg)
c.1780A>C (p.Ser594Arg)
c.1913A>C (n.1913A>C)
c.1500A>C
c.1042A>C (p.Ser348Arg)
c.*1608A>C (n.*1608A>C)
c.730A>C (p.Ser244Arg)
c.421A>C (p.Ser141Arg)
n.1750T>G
c.1864A>C (p.Ser622Arg)
c.1855A>C (p.Ser619Arg)
c.1882A>C (p.Ser628Arg)
c.1879A>C (p.Ser627Arg)
c.1861A>C (p.Ser621Arg)
c.1804A>C (p.Ser602Arg)
c.1738A>C (p.Ser580Arg)
c.304A>C (p.Ser102Arg)
c.1717A>C (p.Ser573Arg)
c.1852A>C (p.Ser618Arg)
c.1858A>C (p.Ser620Arg)
c.1774A>C (p.Ser592Arg)
c.1702A>C (p.Ser568Arg)
c.1636A>C (p.Ser546Arg)
c.997A>C (p.Ser333Arg)
c.1615A>C (p.Ser539Arg)
9g.137776699A>GCA375776119EHMT1c.1873A>G (p.Ser625Gly)
c.1759A>G (p.Ser587Gly)
c.1780A>G (p.Ser594Gly)
c.1913A>G (n.1913A>G)
c.1500A>G
c.1042A>G (p.Ser348Gly)
c.*1608A>G (n.*1608A>G)
c.730A>G (p.Ser244Gly)
c.421A>G (p.Ser141Gly)
n.1750T>C
c.1864A>G (p.Ser622Gly)
c.1855A>G (p.Ser619Gly)
c.1882A>G (p.Ser628Gly)
c.1879A>G (p.Ser627Gly)
c.1861A>G (p.Ser621Gly)
c.1804A>G (p.Ser602Gly)
c.1738A>G (p.Ser580Gly)
c.304A>G (p.Ser102Gly)
c.1717A>G (p.Ser573Gly)
c.1852A>G (p.Ser618Gly)
c.1858A>G (p.Ser620Gly)
c.1774A>G (p.Ser592Gly)
c.1702A>G (p.Ser568Gly)
c.1636A>G (p.Ser546Gly)
c.997A>G (p.Ser333Gly)
c.1615A>G (p.Ser539Gly)
9g.137776699A>TCA375776120EHMT1c.1873A>T (p.Ser625Cys)
c.1759A>T (p.Ser587Cys)
c.1780A>T (p.Ser594Cys)
c.1913A>T (n.1913A>T)
c.1500A>T
c.1042A>T (p.Ser348Cys)
c.*1608A>T (n.*1608A>T)
c.730A>T (p.Ser244Cys)
c.421A>T (p.Ser141Cys)
n.1750T>A
c.1864A>T (p.Ser622Cys)
c.1855A>T (p.Ser619Cys)
c.1882A>T (p.Ser628Cys)
c.1879A>T (p.Ser627Cys)
c.1861A>T (p.Ser621Cys)
c.1804A>T (p.Ser602Cys)
c.1738A>T (p.Ser580Cys)
c.304A>T (p.Ser102Cys)
c.1717A>T (p.Ser573Cys)
c.1852A>T (p.Ser618Cys)
c.1858A>T (p.Ser620Cys)
c.1774A>T (p.Ser592Cys)
c.1702A>T (p.Ser568Cys)
c.1636A>T (p.Ser546Cys)
c.997A>T (p.Ser333Cys)
c.1615A>T (p.Ser539Cys)
9g.137776700G>ACA375776123EHMT1c.1874G>A (p.Ser625Asn)
c.1760G>A (p.Ser587Asn)
c.1781G>A (p.Ser594Asn)
c.1914G>A (n.1914G>A)
c.1501G>A
c.1043G>A (p.Ser348Asn)
c.*1609G>A (n.*1609G>A)
c.731G>A (p.Ser244Asn)
c.422G>A (p.Ser141Asn)
n.1749C>T
c.1865G>A (p.Ser622Asn)
c.1856G>A (p.Ser619Asn)
c.1883G>A (p.Ser628Asn)
c.1880G>A (p.Ser627Asn)
c.1862G>A (p.Ser621Asn)
c.1805G>A (p.Ser602Asn)
c.1739G>A (p.Ser580Asn)
c.305G>A (p.Ser102Asn)
c.1718G>A (p.Ser573Asn)
c.1853G>A (p.Ser618Asn)
c.1859G>A (p.Ser620Asn)
c.1775G>A (p.Ser592Asn)
c.1703G>A (p.Ser568Asn)
c.1637G>A (p.Ser546Asn)
c.998G>A (p.Ser333Asn)
c.1616G>A (p.Ser539Asn)
 gnomAD v4
9g.137776700G>CCA375776126EHMT1c.1874G>C (p.Ser625Thr)
c.1760G>C (p.Ser587Thr)
c.1781G>C (p.Ser594Thr)
c.1914G>C (n.1914G>C)
c.1501G>C
c.1043G>C (p.Ser348Thr)
c.*1609G>C (n.*1609G>C)
c.731G>C (p.Ser244Thr)
c.422G>C (p.Ser141Thr)
n.1749C>G
c.1865G>C (p.Ser622Thr)
c.1856G>C (p.Ser619Thr)
c.1883G>C (p.Ser628Thr)
c.1880G>C (p.Ser627Thr)
c.1862G>C (p.Ser621Thr)
c.1805G>C (p.Ser602Thr)
c.1739G>C (p.Ser580Thr)
c.305G>C (p.Ser102Thr)
c.1718G>C (p.Ser573Thr)
c.1853G>C (p.Ser618Thr)
c.1859G>C (p.Ser620Thr)
c.1775G>C (p.Ser592Thr)
c.1703G>C (p.Ser568Thr)
c.1637G>C (p.Ser546Thr)
c.998G>C (p.Ser333Thr)
c.1616G>C (p.Ser539Thr)
9g.137776700G>TCA375776127EHMT1c.1874G>T (p.Ser625Ile)
c.1760G>T (p.Ser587Ile)
c.1781G>T (p.Ser594Ile)
c.1914G>T (n.1914G>T)
c.1501G>T
c.1043G>T (p.Ser348Ile)
c.*1609G>T (n.*1609G>T)
c.731G>T (p.Ser244Ile)
c.422G>T (p.Ser141Ile)
n.1749C>A
c.1865G>T (p.Ser622Ile)
c.1856G>T (p.Ser619Ile)
c.1883G>T (p.Ser628Ile)
c.1880G>T (p.Ser627Ile)
c.1862G>T (p.Ser621Ile)
c.1805G>T (p.Ser602Ile)
c.1739G>T (p.Ser580Ile)
c.305G>T (p.Ser102Ile)
c.1718G>T (p.Ser573Ile)
c.1853G>T (p.Ser618Ile)
c.1859G>T (p.Ser620Ile)
c.1775G>T (p.Ser592Ile)
c.1703G>T (p.Ser568Ile)
c.1637G>T (p.Ser546Ile)
c.998G>T (p.Ser333Ile)
c.1616G>T (p.Ser539Ile)
9g.137776701C>ACA375776133EHMT1c.1875C>A (p.Ser625Arg)
c.1761C>A (p.Ser587Arg)
c.1782C>A (p.Ser594Arg)
c.1915C>A (n.1915C>A)
c.1502C>A
c.1044C>A (p.Ser348Arg)
c.*1610C>A (n.*1610C>A)
c.732C>A (p.Ser244Arg)
c.423C>A (p.Ser141Arg)
n.1748G>T
c.1866C>A (p.Ser622Arg)
c.1857C>A (p.Ser619Arg)
c.1884C>A (p.Ser628Arg)
c.1881C>A (p.Ser627Arg)
c.1863C>A (p.Ser621Arg)
c.1806C>A (p.Ser602Arg)
c.1740C>A (p.Ser580Arg)
c.306C>A (p.Ser102Arg)
c.1719C>A (p.Ser573Arg)
c.1854C>A (p.Ser618Arg)
c.1860C>A (p.Ser620Arg)
c.1776C>A (p.Ser592Arg)
c.1704C>A (p.Ser568Arg)
c.1638C>A (p.Ser546Arg)
c.999C>A (p.Ser333Arg)
c.1617C>A (p.Ser539Arg)
9g.137776701C>GCA375776134EHMT1c.1875C>G (p.Ser625Arg)
c.1761C>G (p.Ser587Arg)
c.1782C>G (p.Ser594Arg)
c.1915C>G (n.1915C>G)
c.1502C>G
c.1044C>G (p.Ser348Arg)
c.*1610C>G (n.*1610C>G)
c.732C>G (p.Ser244Arg)
c.423C>G (p.Ser141Arg)
n.1748G>C
c.1866C>G (p.Ser622Arg)
c.1857C>G (p.Ser619Arg)
c.1884C>G (p.Ser628Arg)
c.1881C>G (p.Ser627Arg)
c.1863C>G (p.Ser621Arg)
c.1806C>G (p.Ser602Arg)
c.1740C>G (p.Ser580Arg)
c.306C>G (p.Ser102Arg)
c.1719C>G (p.Ser573Arg)
c.1854C>G (p.Ser618Arg)
c.1860C>G (p.Ser620Arg)
c.1776C>G (p.Ser592Arg)
c.1704C>G (p.Ser568Arg)
c.1638C>G (p.Ser546Arg)
c.999C>G (p.Ser333Arg)
c.1617C>G (p.Ser539Arg)
9g.137776701C>TCA467874077EHMT1c.1875C>T (p.Ser625=)
c.1761C>T (p.Ser587=)
c.1782C>T (p.Ser594=)
c.1915C>T (n.1915C>T)
c.1502C>T
c.1044C>T (p.Ser348=)
c.*1610C>T (n.*1610C>T)
c.732C>T (p.Ser244=)
c.423C>T (p.Ser141=)
n.1748G>A
c.1866C>T (p.Ser622=)
c.1857C>T (p.Ser619=)
c.1884C>T (p.Ser628=)
c.1881C>T (p.Ser627=)
c.1863C>T (p.Ser621=)
c.1806C>T (p.Ser602=)
c.1740C>T (p.Ser580=)
c.306C>T (p.Ser102=)
c.1719C>T (p.Ser573=)
c.1854C>T (p.Ser618=)
c.1860C>T (p.Ser620=)
c.1776C>T (p.Ser592=)
c.1704C>T (p.Ser568=)
c.1638C>T (p.Ser546=)
c.999C>T (p.Ser333=)
c.1617C>T (p.Ser539=)
 COSMIC COSMIC
9g.137776702T>ACA375776140EHMT1c.1876T>A (p.Tyr626Asn)
c.1762T>A (p.Tyr588Asn)
c.1783T>A (p.Tyr595Asn)
c.1916T>A (n.1916T>A)
c.1503T>A
c.1045T>A (p.Tyr349Asn)
c.*1611T>A (n.*1611T>A)
c.733T>A (p.Tyr245Asn)
c.424T>A (p.Tyr142Asn)
n.1747A>T
c.1867T>A (p.Tyr623Asn)
c.1858T>A (p.Tyr620Asn)
c.1885T>A (p.Tyr629Asn)
c.1882T>A (p.Tyr628Asn)
c.1864T>A (p.Tyr622Asn)
c.1807T>A (p.Tyr603Asn)
c.1741T>A (p.Tyr581Asn)
c.307T>A (p.Tyr103Asn)
c.1720T>A (p.Tyr574Asn)
c.1855T>A (p.Tyr619Asn)
c.1861T>A (p.Tyr621Asn)
c.1777T>A (p.Tyr593Asn)
c.1705T>A (p.Tyr569Asn)
c.1639T>A (p.Tyr547Asn)
c.1000T>A (p.Tyr334Asn)
c.1618T>A (p.Tyr540Asn)
9g.137776702T>CCA375776144EHMT1c.1876T>C (p.Tyr626His)
c.1762T>C (p.Tyr588His)
c.1783T>C (p.Tyr595His)
c.1916T>C (n.1916T>C)
c.1503T>C
c.1045T>C (p.Tyr349His)
c.*1611T>C (n.*1611T>C)
c.733T>C (p.Tyr245His)
c.424T>C (p.Tyr142His)
n.1747A>G
c.1867T>C (p.Tyr623His)
c.1858T>C (p.Tyr620His)
c.1885T>C (p.Tyr629His)
c.1882T>C (p.Tyr628His)
c.1864T>C (p.Tyr622His)
c.1807T>C (p.Tyr603His)
c.1741T>C (p.Tyr581His)
c.307T>C (p.Tyr103His)
c.1720T>C (p.Tyr574His)
c.1855T>C (p.Tyr619His)
c.1861T>C (p.Tyr621His)
c.1777T>C (p.Tyr593His)
c.1705T>C (p.Tyr569His)
c.1639T>C (p.Tyr547His)
c.1000T>C (p.Tyr334His)
c.1618T>C (p.Tyr540His)
9g.137776702T>GCA375776143EHMT1c.1876T>G (p.Tyr626Asp)
c.1762T>G (p.Tyr588Asp)
c.1783T>G (p.Tyr595Asp)
c.1916T>G (n.1916T>G)
c.1503T>G
c.1045T>G (p.Tyr349Asp)
c.*1611T>G (n.*1611T>G)
c.733T>G (p.Tyr245Asp)
c.424T>G (p.Tyr142Asp)
n.1747A>C
c.1867T>G (p.Tyr623Asp)
c.1858T>G (p.Tyr620Asp)
c.1885T>G (p.Tyr629Asp)
c.1882T>G (p.Tyr628Asp)
c.1864T>G (p.Tyr622Asp)
c.1807T>G (p.Tyr603Asp)
c.1741T>G (p.Tyr581Asp)
c.307T>G (p.Tyr103Asp)
c.1720T>G (p.Tyr574Asp)
c.1855T>G (p.Tyr619Asp)
c.1861T>G (p.Tyr621Asp)
c.1777T>G (p.Tyr593Asp)
c.1705T>G (p.Tyr569Asp)
c.1639T>G (p.Tyr547Asp)
c.1000T>G (p.Tyr334Asp)
c.1618T>G (p.Tyr540Asp)
9g.137776703A=CA1884666491EHMT1c.1877A= (p.Tyr626=)
c.1763A= (p.Tyr588=)
c.1784A= (p.Tyr595=)
c.1917A= (n.1917A=)
c.1504A=
c.1046A= (p.Tyr349=)
c.*1612A= (n.*1612A=)
c.734A= (p.Tyr245=)
c.425A= (p.Tyr142=)
n.1746T=
c.1868A= (p.Tyr623=)
c.1859A= (p.Tyr620=)
c.1886A= (p.Tyr629=)
c.1883A= (p.Tyr628=)
c.1865A= (p.Tyr622=)
c.1808A= (p.Tyr603=)
c.1742A= (p.Tyr581=)
c.308A= (p.Tyr103=)
c.1721A= (p.Tyr574=)
c.1856A= (p.Tyr619=)
c.1862A= (p.Tyr621=)
c.1778A= (p.Tyr593=)
c.1706A= (p.Tyr569=)
c.1640A= (p.Tyr547=)
c.1001A= (p.Tyr334=)
c.1619A= (p.Tyr540=)
9g.137776703A>CCA375776146EHMT1c.1877A>C (p.Tyr626Ser)
c.1763A>C (p.Tyr588Ser)
c.1784A>C (p.Tyr595Ser)
c.1917A>C (n.1917A>C)
c.1504A>C
c.1046A>C (p.Tyr349Ser)
c.*1612A>C (n.*1612A>C)
c.734A>C (p.Tyr245Ser)
c.425A>C (p.Tyr142Ser)
n.1746T>G
c.1868A>C (p.Tyr623Ser)
c.1859A>C (p.Tyr620Ser)
c.1886A>C (p.Tyr629Ser)
c.1883A>C (p.Tyr628Ser)
c.1865A>C (p.Tyr622Ser)
c.1808A>C (p.Tyr603Ser)
c.1742A>C (p.Tyr581Ser)
c.308A>C (p.Tyr103Ser)
c.1721A>C (p.Tyr574Ser)
c.1856A>C (p.Tyr619Ser)
c.1862A>C (p.Tyr621Ser)
c.1778A>C (p.Tyr593Ser)
c.1706A>C (p.Tyr569Ser)
c.1640A>C (p.Tyr547Ser)
c.1001A>C (p.Tyr334Ser)
c.1619A>C (p.Tyr540Ser)
9g.137776703A>GCA5374753EHMT1c.1877A>G (p.Tyr626Cys)
c.1763A>G (p.Tyr588Cys)
c.1784A>G (p.Tyr595Cys)
c.1917A>G (n.1917A>G)
c.1504A>G
c.1046A>G (p.Tyr349Cys)
c.*1612A>G (n.*1612A>G)
c.734A>G (p.Tyr245Cys)
c.425A>G (p.Tyr142Cys)
n.1746T>C
c.1868A>G (p.Tyr623Cys)
c.1859A>G (p.Tyr620Cys)
c.1886A>G (p.Tyr629Cys)
c.1883A>G (p.Tyr628Cys)
c.1865A>G (p.Tyr622Cys)
c.1808A>G (p.Tyr603Cys)
c.1742A>G (p.Tyr581Cys)
c.308A>G (p.Tyr103Cys)
c.1721A>G (p.Tyr574Cys)
c.1856A>G (p.Tyr619Cys)
c.1862A>G (p.Tyr621Cys)
c.1778A>G (p.Tyr593Cys)
c.1706A>G (p.Tyr569Cys)
c.1640A>G (p.Tyr547Cys)
c.1001A>G (p.Tyr334Cys)
c.1619A>G (p.Tyr540Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137776703A>TCA375776147EHMT1c.1877A>T (p.Tyr626Phe)
c.1763A>T (p.Tyr588Phe)
c.1784A>T (p.Tyr595Phe)
c.1917A>T (n.1917A>T)
c.1504A>T
c.1046A>T (p.Tyr349Phe)
c.*1612A>T (n.*1612A>T)
c.734A>T (p.Tyr245Phe)
c.425A>T (p.Tyr142Phe)
n.1746T>A
c.1868A>T (p.Tyr623Phe)
c.1859A>T (p.Tyr620Phe)
c.1886A>T (p.Tyr629Phe)
c.1883A>T (p.Tyr628Phe)
c.1865A>T (p.Tyr622Phe)
c.1808A>T (p.Tyr603Phe)
c.1742A>T (p.Tyr581Phe)
c.308A>T (p.Tyr103Phe)
c.1721A>T (p.Tyr574Phe)
c.1856A>T (p.Tyr619Phe)
c.1862A>T (p.Tyr621Phe)
c.1778A>T (p.Tyr593Phe)
c.1706A>T (p.Tyr569Phe)
c.1640A>T (p.Tyr547Phe)
c.1001A>T (p.Tyr334Phe)
c.1619A>T (p.Tyr540Phe)
9g.137776704T>ACA375776149EHMT1c.1878T>A (p.Tyr626Ter)
c.1764T>A (p.Tyr588Ter)
c.1785T>A (p.Tyr595Ter)
c.1918T>A (n.1918T>A)
c.1505T>A
c.1047T>A (p.Tyr349Ter)
c.*1613T>A (n.*1613T>A)
c.735T>A (p.Tyr245Ter)
c.426T>A (p.Tyr142Ter)
n.1745A>T
c.1869T>A (p.Tyr623Ter)
c.1860T>A (p.Tyr620Ter)
c.1887T>A (p.Tyr629Ter)
c.1884T>A (p.Tyr628Ter)
c.1866T>A (p.Tyr622Ter)
c.1809T>A (p.Tyr603Ter)
c.1743T>A (p.Tyr581Ter)
c.309T>A (p.Tyr103Ter)
c.1722T>A (p.Tyr574Ter)
c.1857T>A (p.Tyr619Ter)
c.1863T>A (p.Tyr621Ter)
c.1779T>A (p.Tyr593Ter)
c.1707T>A (p.Tyr569Ter)
c.1641T>A (p.Tyr547Ter)
c.1002T>A (p.Tyr334Ter)
c.1620T>A (p.Tyr540Ter)
9g.137776704T>CCA467874078EHMT1c.1878T>C (p.Tyr626=)
c.1764T>C (p.Tyr588=)
c.1785T>C (p.Tyr595=)
c.1918T>C (n.1918T>C)
c.1505T>C
c.1047T>C (p.Tyr349=)
c.*1613T>C (n.*1613T>C)
c.735T>C (p.Tyr245=)
c.426T>C (p.Tyr142=)
n.1745A>G
c.1869T>C (p.Tyr623=)
c.1860T>C (p.Tyr620=)
c.1887T>C (p.Tyr629=)
c.1884T>C (p.Tyr628=)
c.1866T>C (p.Tyr622=)
c.1809T>C (p.Tyr603=)
c.1743T>C (p.Tyr581=)
c.309T>C (p.Tyr103=)
c.1722T>C (p.Tyr574=)
c.1857T>C (p.Tyr619=)
c.1863T>C (p.Tyr621=)
c.1779T>C (p.Tyr593=)
c.1707T>C (p.Tyr569=)
c.1641T>C (p.Tyr547=)
c.1002T>C (p.Tyr334=)
c.1620T>C (p.Tyr540=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137776704T>GCA375776151EHMT1c.1878T>G (p.Tyr626Ter)
c.1764T>G (p.Tyr588Ter)
c.1785T>G (p.Tyr595Ter)
c.1918T>G (n.1918T>G)
c.1505T>G
c.1047T>G (p.Tyr349Ter)
c.*1613T>G (n.*1613T>G)
c.735T>G (p.Tyr245Ter)
c.426T>G (p.Tyr142Ter)
n.1745A>C
c.1869T>G (p.Tyr623Ter)
c.1860T>G (p.Tyr620Ter)
c.1887T>G (p.Tyr629Ter)
c.1884T>G (p.Tyr628Ter)
c.1866T>G (p.Tyr622Ter)
c.1809T>G (p.Tyr603Ter)
c.1743T>G (p.Tyr581Ter)
c.309T>G (p.Tyr103Ter)
c.1722T>G (p.Tyr574Ter)
c.1857T>G (p.Tyr619Ter)
c.1863T>G (p.Tyr621Ter)
c.1779T>G (p.Tyr593Ter)
c.1707T>G (p.Tyr569Ter)
c.1641T>G (p.Tyr547Ter)
c.1002T>G (p.Tyr334Ter)
c.1620T>G (p.Tyr540Ter)
9g.137776704T=CA1884666492EHMT1c.1878T= (p.Tyr626=)
c.1764T= (p.Tyr588=)
c.1785T= (p.Tyr595=)
c.1918T= (n.1918T=)
c.1505T=
c.1047T= (p.Tyr349=)
c.*1613T= (n.*1613T=)
c.735T= (p.Tyr245=)
c.426T= (p.Tyr142=)
n.1745A=
c.1869T= (p.Tyr623=)
c.1860T= (p.Tyr620=)
c.1887T= (p.Tyr629=)
c.1884T= (p.Tyr628=)
c.1866T= (p.Tyr622=)
c.1809T= (p.Tyr603=)
c.1743T= (p.Tyr581=)
c.309T= (p.Tyr103=)
c.1722T= (p.Tyr574=)
c.1857T= (p.Tyr619=)
c.1863T= (p.Tyr621=)
c.1779T= (p.Tyr593=)
c.1707T= (p.Tyr569=)
c.1641T= (p.Tyr547=)
c.1002T= (p.Tyr334=)
c.1620T= (p.Tyr540=)
9g.137776705T>ACA375776165EHMT1c.1879T>A (p.Cys627Ser)
c.1765T>A (p.Cys589Ser)
c.1786T>A (p.Cys596Ser)
c.1919T>A (n.1919T>A)
c.1506T>A
c.1048T>A (p.Cys350Ser)
c.*1614T>A (n.*1614T>A)
c.736T>A (p.Cys246Ser)
c.427T>A (p.Cys143Ser)
n.1744A>T
c.1870T>A (p.Cys624Ser)
c.1861T>A (p.Cys621Ser)
c.1888T>A (p.Cys630Ser)
c.1885T>A (p.Cys629Ser)
c.1867T>A (p.Cys623Ser)
c.1810T>A (p.Cys604Ser)
c.1744T>A (p.Cys582Ser)
c.310T>A (p.Cys104Ser)
c.1723T>A (p.Cys575Ser)
c.1858T>A (p.Cys620Ser)
c.1864T>A (p.Cys622Ser)
c.1780T>A (p.Cys594Ser)
c.1708T>A (p.Cys570Ser)
c.1642T>A (p.Cys548Ser)
c.1003T>A (p.Cys335Ser)
c.1621T>A (p.Cys541Ser)
9g.137776705T>CCA375776166EHMT1c.1879T>C (p.Cys627Arg)
c.1765T>C (p.Cys589Arg)
c.1786T>C (p.Cys596Arg)
c.1919T>C (n.1919T>C)
c.1506T>C
c.1048T>C (p.Cys350Arg)
c.*1614T>C (n.*1614T>C)
c.736T>C (p.Cys246Arg)
c.427T>C (p.Cys143Arg)
n.1744A>G
c.1870T>C (p.Cys624Arg)
c.1861T>C (p.Cys621Arg)
c.1888T>C (p.Cys630Arg)
c.1885T>C (p.Cys629Arg)
c.1867T>C (p.Cys623Arg)
c.1810T>C (p.Cys604Arg)
c.1744T>C (p.Cys582Arg)
c.310T>C (p.Cys104Arg)
c.1723T>C (p.Cys575Arg)
c.1858T>C (p.Cys620Arg)
c.1864T>C (p.Cys622Arg)
c.1780T>C (p.Cys594Arg)
c.1708T>C (p.Cys570Arg)
c.1642T>C (p.Cys548Arg)
c.1003T>C (p.Cys335Arg)
c.1621T>C (p.Cys541Arg)
9g.137776705T>GCA375776170EHMT1c.1879T>G (p.Cys627Gly)
c.1765T>G (p.Cys589Gly)
c.1786T>G (p.Cys596Gly)
c.1919T>G (n.1919T>G)
c.1506T>G
c.1048T>G (p.Cys350Gly)
c.*1614T>G (n.*1614T>G)
c.736T>G (p.Cys246Gly)
c.427T>G (p.Cys143Gly)
n.1744A>C
c.1870T>G (p.Cys624Gly)
c.1861T>G (p.Cys621Gly)
c.1888T>G (p.Cys630Gly)
c.1885T>G (p.Cys629Gly)
c.1867T>G (p.Cys623Gly)
c.1810T>G (p.Cys604Gly)
c.1744T>G (p.Cys582Gly)
c.310T>G (p.Cys104Gly)
c.1723T>G (p.Cys575Gly)
c.1858T>G (p.Cys620Gly)
c.1864T>G (p.Cys622Gly)
c.1780T>G (p.Cys594Gly)
c.1708T>G (p.Cys570Gly)
c.1642T>G (p.Cys548Gly)
c.1003T>G (p.Cys335Gly)
c.1621T>G (p.Cys541Gly)
9g.137776706G>ACA375776175EHMT1c.1880G>A (p.Cys627Tyr)
c.1766G>A (p.Cys589Tyr)
c.1787G>A (p.Cys596Tyr)
c.1920G>A (n.1920G>A)
c.1507G>A
c.1049G>A (p.Cys350Tyr)
c.*1615G>A (n.*1615G>A)
c.737G>A (p.Cys246Tyr)
c.428G>A (p.Cys143Tyr)
n.1743C>T
c.1871G>A (p.Cys624Tyr)
c.1862G>A (p.Cys621Tyr)
c.1889G>A (p.Cys630Tyr)
c.1886G>A (p.Cys629Tyr)
c.1868G>A (p.Cys623Tyr)
c.1811G>A (p.Cys604Tyr)
c.1745G>A (p.Cys582Tyr)
c.311G>A (p.Cys104Tyr)
c.1724G>A (p.Cys575Tyr)
c.1859G>A (p.Cys620Tyr)
c.1865G>A (p.Cys622Tyr)
c.1781G>A (p.Cys594Tyr)
c.1709G>A (p.Cys570Tyr)
c.1643G>A (p.Cys548Tyr)
c.1004G>A (p.Cys335Tyr)
c.1622G>A (p.Cys541Tyr)
9g.137776706G>CCA375776179EHMT1c.1880G>C (p.Cys627Ser)
c.1766G>C (p.Cys589Ser)
c.1787G>C (p.Cys596Ser)
c.1920G>C (n.1920G>C)
c.1507G>C
c.1049G>C (p.Cys350Ser)
c.*1615G>C (n.*1615G>C)
c.737G>C (p.Cys246Ser)
c.428G>C (p.Cys143Ser)
n.1743C>G
c.1871G>C (p.Cys624Ser)
c.1862G>C (p.Cys621Ser)
c.1889G>C (p.Cys630Ser)
c.1886G>C (p.Cys629Ser)
c.1868G>C (p.Cys623Ser)
c.1811G>C (p.Cys604Ser)
c.1745G>C (p.Cys582Ser)
c.311G>C (p.Cys104Ser)
c.1724G>C (p.Cys575Ser)
c.1859G>C (p.Cys620Ser)
c.1865G>C (p.Cys622Ser)
c.1781G>C (p.Cys594Ser)
c.1709G>C (p.Cys570Ser)
c.1643G>C (p.Cys548Ser)
c.1004G>C (p.Cys335Ser)
c.1622G>C (p.Cys541Ser)
9g.137776706G>TCA375776192EHMT1c.1880G>T (p.Cys627Phe)
c.1766G>T (p.Cys589Phe)
c.1787G>T (p.Cys596Phe)
c.1920G>T (n.1920G>T)
c.1507G>T
c.1049G>T (p.Cys350Phe)
c.*1615G>T (n.*1615G>T)
c.737G>T (p.Cys246Phe)
c.428G>T (p.Cys143Phe)
n.1743C>A
c.1871G>T (p.Cys624Phe)
c.1862G>T (p.Cys621Phe)
c.1889G>T (p.Cys630Phe)
c.1886G>T (p.Cys629Phe)
c.1868G>T (p.Cys623Phe)
c.1811G>T (p.Cys604Phe)
c.1745G>T (p.Cys582Phe)
c.311G>T (p.Cys104Phe)
c.1724G>T (p.Cys575Phe)
c.1859G>T (p.Cys620Phe)
c.1865G>T (p.Cys622Phe)
c.1781G>T (p.Cys594Phe)
c.1709G>T (p.Cys570Phe)
c.1643G>T (p.Cys548Phe)
c.1004G>T (p.Cys335Phe)
c.1622G>T (p.Cys541Phe)
9g.137776707T>ACA375776195EHMT1c.1881T>A (p.Cys627Ter)
c.1767T>A (p.Cys589Ter)
c.1788T>A (p.Cys596Ter)
c.1921T>A (n.1921T>A)
c.1508T>A
c.1050T>A (p.Cys350Ter)
c.*1616T>A (n.*1616T>A)
c.738T>A (p.Cys246Ter)
c.429T>A (p.Cys143Ter)
n.1742A>T
c.1872T>A (p.Cys624Ter)
c.1863T>A (p.Cys621Ter)
c.1890T>A (p.Cys630Ter)
c.1887T>A (p.Cys629Ter)
c.1869T>A (p.Cys623Ter)
c.1812T>A (p.Cys604Ter)
c.1746T>A (p.Cys582Ter)
c.312T>A (p.Cys104Ter)
c.1725T>A (p.Cys575Ter)
c.1860T>A (p.Cys620Ter)
c.1866T>A (p.Cys622Ter)
c.1782T>A (p.Cys594Ter)
c.1710T>A (p.Cys570Ter)
c.1644T>A (p.Cys548Ter)
c.1005T>A (p.Cys335Ter)
c.1623T>A (p.Cys541Ter)
9g.137776707T>CCA467874079EHMT1c.1881T>C (p.Cys627=)
c.1767T>C (p.Cys589=)
c.1788T>C (p.Cys596=)
c.1921T>C (n.1921T>C)
c.1508T>C
c.1050T>C (p.Cys350=)
c.*1616T>C (n.*1616T>C)
c.738T>C (p.Cys246=)
c.429T>C (p.Cys143=)
n.1742A>G
c.1872T>C (p.Cys624=)
c.1863T>C (p.Cys621=)
c.1890T>C (p.Cys630=)
c.1887T>C (p.Cys629=)
c.1869T>C (p.Cys623=)
c.1812T>C (p.Cys604=)
c.1746T>C (p.Cys582=)
c.312T>C (p.Cys104=)
c.1725T>C (p.Cys575=)
c.1860T>C (p.Cys620=)
c.1866T>C (p.Cys622=)
c.1782T>C (p.Cys594=)
c.1710T>C (p.Cys570=)
c.1644T>C (p.Cys548=)
c.1005T>C (p.Cys335=)
c.1623T>C (p.Cys541=)
9g.137776707T>GCA375776197EHMT1c.1881T>G (p.Cys627Trp)
c.1767T>G (p.Cys589Trp)
c.1788T>G (p.Cys596Trp)
c.1921T>G (n.1921T>G)
c.1508T>G
c.1050T>G (p.Cys350Trp)
c.*1616T>G (n.*1616T>G)
c.738T>G (p.Cys246Trp)
c.429T>G (p.Cys143Trp)
n.1742A>C
c.1872T>G (p.Cys624Trp)
c.1863T>G (p.Cys621Trp)
c.1890T>G (p.Cys630Trp)
c.1887T>G (p.Cys629Trp)
c.1869T>G (p.Cys623Trp)
c.1812T>G (p.Cys604Trp)
c.1746T>G (p.Cys582Trp)
c.312T>G (p.Cys104Trp)
c.1725T>G (p.Cys575Trp)
c.1860T>G (p.Cys620Trp)
c.1866T>G (p.Cys622Trp)
c.1782T>G (p.Cys594Trp)
c.1710T>G (p.Cys570Trp)
c.1644T>G (p.Cys548Trp)
c.1005T>G (p.Cys335Trp)
c.1623T>G (p.Cys541Trp)
9g.137776708C>ACA375776201EHMT1c.1882C>A (p.Pro628Thr)
c.1768C>A (p.Pro590Thr)
c.1789C>A (p.Pro597Thr)
c.1922C>A (n.1922C>A)
c.1509C>A
c.1051C>A (p.Pro351Thr)
c.*1617C>A (n.*1617C>A)
c.739C>A (p.Pro247Thr)
c.430C>A (p.Pro144Thr)
n.1741G>T
c.1873C>A (p.Pro625Thr)
c.1864C>A (p.Pro622Thr)
c.1891C>A (p.Pro631Thr)
c.1888C>A (p.Pro630Thr)
c.1870C>A (p.Pro624Thr)
c.1813C>A (p.Pro605Thr)
c.1747C>A (p.Pro583Thr)
c.313C>A (p.Pro105Thr)
c.1726C>A (p.Pro576Thr)
c.1861C>A (p.Pro621Thr)
c.1867C>A (p.Pro623Thr)
c.1783C>A (p.Pro595Thr)
c.1711C>A (p.Pro571Thr)
c.1645C>A (p.Pro549Thr)
c.1006C>A (p.Pro336Thr)
c.1624C>A (p.Pro542Thr)
9g.137776708C>GCA375776205EHMT1c.1882C>G (p.Pro628Ala)
c.1768C>G (p.Pro590Ala)
c.1789C>G (p.Pro597Ala)
c.1922C>G (n.1922C>G)
c.1509C>G
c.1051C>G (p.Pro351Ala)
c.*1617C>G (n.*1617C>G)
c.739C>G (p.Pro247Ala)
c.430C>G (p.Pro144Ala)
n.1741G>C
c.1873C>G (p.Pro625Ala)
c.1864C>G (p.Pro622Ala)
c.1891C>G (p.Pro631Ala)
c.1888C>G (p.Pro630Ala)
c.1870C>G (p.Pro624Ala)
c.1813C>G (p.Pro605Ala)
c.1747C>G (p.Pro583Ala)
c.313C>G (p.Pro105Ala)
c.1726C>G (p.Pro576Ala)
c.1861C>G (p.Pro621Ala)
c.1867C>G (p.Pro623Ala)
c.1783C>G (p.Pro595Ala)
c.1711C>G (p.Pro571Ala)
c.1645C>G (p.Pro549Ala)
c.1006C>G (p.Pro336Ala)
c.1624C>G (p.Pro542Ala)
9g.137776708C>TCA375776209EHMT1c.1882C>T (p.Pro628Ser)
c.1768C>T (p.Pro590Ser)
c.1789C>T (p.Pro597Ser)
c.1922C>T (n.1922C>T)
c.1509C>T
c.1051C>T (p.Pro351Ser)
c.*1617C>T (n.*1617C>T)
c.739C>T (p.Pro247Ser)
c.430C>T (p.Pro144Ser)
n.1741G>A
c.1873C>T (p.Pro625Ser)
c.1864C>T (p.Pro622Ser)
c.1891C>T (p.Pro631Ser)
c.1888C>T (p.Pro630Ser)
c.1870C>T (p.Pro624Ser)
c.1813C>T (p.Pro605Ser)
c.1747C>T (p.Pro583Ser)
c.313C>T (p.Pro105Ser)
c.1726C>T (p.Pro576Ser)
c.1861C>T (p.Pro621Ser)
c.1867C>T (p.Pro623Ser)
c.1783C>T (p.Pro595Ser)
c.1711C>T (p.Pro571Ser)
c.1645C>T (p.Pro549Ser)
c.1006C>T (p.Pro336Ser)
c.1624C>T (p.Pro542Ser)
 gnomAD v4
9g.137776709C>ACA375776214EHMT1c.1883C>A (p.Pro628His)
c.1769C>A (p.Pro590His)
c.1790C>A (p.Pro597His)
c.1923C>A (n.1923C>A)
c.1510C>A
c.1052C>A (p.Pro351His)
c.*1618C>A (n.*1618C>A)
c.740C>A (p.Pro247His)
c.431C>A (p.Pro144His)
n.1740G>T
c.1874C>A (p.Pro625His)
c.1865C>A (p.Pro622His)
c.1892C>A (p.Pro631His)
c.1889C>A (p.Pro630His)
c.1871C>A (p.Pro624His)
c.1814C>A (p.Pro605His)
c.1748C>A (p.Pro583His)
c.314C>A (p.Pro105His)
c.1727C>A (p.Pro576His)
c.1862C>A (p.Pro621His)
c.1868C>A (p.Pro623His)
c.1784C>A (p.Pro595His)
c.1712C>A (p.Pro571His)
c.1646C>A (p.Pro549His)
c.1007C>A (p.Pro336His)
c.1625C>A (p.Pro542His)
9g.137776709C=CA1884666493EHMT1c.1883C= (p.Pro628=)
c.1769C= (p.Pro590=)
c.1790C= (p.Pro597=)
c.1923C= (n.1923C=)
c.1510C=
c.1052C= (p.Pro351=)
c.*1618C= (n.*1618C=)
c.740C= (p.Pro247=)
c.431C= (p.Pro144=)
n.1740G=
c.1874C= (p.Pro625=)
c.1865C= (p.Pro622=)
c.1892C= (p.Pro631=)
c.1889C= (p.Pro630=)
c.1871C= (p.Pro624=)
c.1814C= (p.Pro605=)
c.1748C= (p.Pro583=)
c.314C= (p.Pro105=)
c.1727C= (p.Pro576=)
c.1862C= (p.Pro621=)
c.1868C= (p.Pro623=)
c.1784C= (p.Pro595=)
c.1712C= (p.Pro571=)
c.1646C= (p.Pro549=)
c.1007C= (p.Pro336=)
c.1625C= (p.Pro542=)
9g.137776709C>GCA375776219EHMT1c.1883C>G (p.Pro628Arg)
c.1769C>G (p.Pro590Arg)
c.1790C>G (p.Pro597Arg)
c.1923C>G (n.1923C>G)
c.1510C>G
c.1052C>G (p.Pro351Arg)
c.*1618C>G (n.*1618C>G)
c.740C>G (p.Pro247Arg)
c.431C>G (p.Pro144Arg)
n.1740G>C
c.1874C>G (p.Pro625Arg)
c.1865C>G (p.Pro622Arg)
c.1892C>G (p.Pro631Arg)
c.1889C>G (p.Pro630Arg)
c.1871C>G (p.Pro624Arg)
c.1814C>G (p.Pro605Arg)
c.1748C>G (p.Pro583Arg)
c.314C>G (p.Pro105Arg)
c.1727C>G (p.Pro576Arg)
c.1862C>G (p.Pro621Arg)
c.1868C>G (p.Pro623Arg)
c.1784C>G (p.Pro595Arg)
c.1712C>G (p.Pro571Arg)
c.1646C>G (p.Pro549Arg)
c.1007C>G (p.Pro336Arg)
c.1625C>G (p.Pro542Arg)
9g.137776709C>TCA375776216EHMT1c.1883C>T (p.Pro628Leu)
c.1769C>T (p.Pro590Leu)
c.1790C>T (p.Pro597Leu)
c.1923C>T (n.1923C>T)
c.1510C>T
c.1052C>T (p.Pro351Leu)
c.*1618C>T (n.*1618C>T)
c.740C>T (p.Pro247Leu)
c.431C>T (p.Pro144Leu)
n.1740G>A
c.1874C>T (p.Pro625Leu)
c.1865C>T (p.Pro622Leu)
c.1892C>T (p.Pro631Leu)
c.1889C>T (p.Pro630Leu)
c.1871C>T (p.Pro624Leu)
c.1814C>T (p.Pro605Leu)
c.1748C>T (p.Pro583Leu)
c.314C>T (p.Pro105Leu)
c.1727C>T (p.Pro576Leu)
c.1862C>T (p.Pro621Leu)
c.1868C>T (p.Pro623Leu)
c.1784C>T (p.Pro595Leu)
c.1712C>T (p.Pro571Leu)
c.1646C>T (p.Pro549Leu)
c.1007C>T (p.Pro336Leu)
c.1625C>T (p.Pro542Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137776710C>ACA467874080EHMT1c.1884C>A (p.Pro628=)
c.1770C>A (p.Pro590=)
c.1791C>A (p.Pro597=)
c.1924C>A (n.1924C>A)
c.1511C>A
c.1053C>A (p.Pro351=)
c.*1619C>A (n.*1619C>A)
c.741C>A (p.Pro247=)
c.432C>A (p.Pro144=)
n.1739G>T
c.1875C>A (p.Pro625=)
c.1866C>A (p.Pro622=)
c.1893C>A (p.Pro631=)
c.1890C>A (p.Pro630=)
c.1872C>A (p.Pro624=)
c.1815C>A (p.Pro605=)
c.1749C>A (p.Pro583=)
c.315C>A (p.Pro105=)
c.1728C>A (p.Pro576=)
c.1863C>A (p.Pro621=)
c.1869C>A (p.Pro623=)
c.1785C>A (p.Pro595=)
c.1713C>A (p.Pro571=)
c.1647C>A (p.Pro549=)
c.1008C>A (p.Pro336=)
c.1626C>A (p.Pro542=)
9g.137776710C=CA1884666494EHMT1c.1884C= (p.Pro628=)
c.1770C= (p.Pro590=)
c.1791C= (p.Pro597=)
c.1924C= (n.1924C=)
c.1511C=
c.1053C= (p.Pro351=)
c.*1619C= (n.*1619C=)
c.741C= (p.Pro247=)
c.432C= (p.Pro144=)
n.1739G=
c.1875C= (p.Pro625=)
c.1866C= (p.Pro622=)
c.1893C= (p.Pro631=)
c.1890C= (p.Pro630=)
c.1872C= (p.Pro624=)
c.1815C= (p.Pro605=)
c.1749C= (p.Pro583=)
c.315C= (p.Pro105=)
c.1728C= (p.Pro576=)
c.1863C= (p.Pro621=)
c.1869C= (p.Pro623=)
c.1785C= (p.Pro595=)
c.1713C= (p.Pro571=)
c.1647C= (p.Pro549=)
c.1008C= (p.Pro336=)
c.1626C= (p.Pro542=)
9g.137776710C>GCA201804088EHMT1c.1884C>G (p.Pro628=)
c.1770C>G (p.Pro590=)
c.1791C>G (p.Pro597=)
c.1924C>G (n.1924C>G)
c.1511C>G
c.1053C>G (p.Pro351=)
c.*1619C>G (n.*1619C>G)
c.741C>G (p.Pro247=)
c.432C>G (p.Pro144=)
n.1739G>C
c.1875C>G (p.Pro625=)
c.1866C>G (p.Pro622=)
c.1893C>G (p.Pro631=)
c.1890C>G (p.Pro630=)
c.1872C>G (p.Pro624=)
c.1815C>G (p.Pro605=)
c.1749C>G (p.Pro583=)
c.315C>G (p.Pro105=)
c.1728C>G (p.Pro576=)
c.1863C>G (p.Pro621=)
c.1869C>G (p.Pro623=)
c.1785C>G (p.Pro595=)
c.1713C>G (p.Pro571=)
c.1647C>G (p.Pro549=)
c.1008C>G (p.Pro336=)
c.1626C>G (p.Pro542=)
 dbSNP
9g.137776710C>TCA467874081EHMT1c.1884C>T (p.Pro628=)
c.1770C>T (p.Pro590=)
c.1791C>T (p.Pro597=)
c.1924C>T (n.1924C>T)
c.1511C>T
c.1053C>T (p.Pro351=)
c.*1619C>T (n.*1619C>T)
c.741C>T (p.Pro247=)
c.432C>T (p.Pro144=)
n.1739G>A
c.1875C>T (p.Pro625=)
c.1866C>T (p.Pro622=)
c.1893C>T (p.Pro631=)
c.1890C>T (p.Pro630=)
c.1872C>T (p.Pro624=)
c.1815C>T (p.Pro605=)
c.1749C>T (p.Pro583=)
c.315C>T (p.Pro105=)
c.1728C>T (p.Pro576=)
c.1863C>T (p.Pro621=)
c.1869C>T (p.Pro623=)
c.1785C>T (p.Pro595=)
c.1713C>T (p.Pro571=)
c.1647C>T (p.Pro549=)
c.1008C>T (p.Pro336=)
c.1626C>T (p.Pro542=)
 gnomAD v4
9g.137776711C>ACA375776227EHMT1c.1885C>A (p.His629Asn)
c.1771C>A (p.His591Asn)
c.1792C>A (p.His598Asn)
c.1925C>A (n.1925C>A)
c.1512C>A
c.1054C>A (p.His352Asn)
c.*1620C>A (n.*1620C>A)
c.742C>A (p.His248Asn)
c.433C>A (p.His145Asn)
n.1738G>T
c.1876C>A (p.His626Asn)
c.1867C>A (p.His623Asn)
c.1894C>A (p.His632Asn)
c.1891C>A (p.His631Asn)
c.1873C>A (p.His625Asn)
c.1816C>A (p.His606Asn)
c.1750C>A (p.His584Asn)
c.316C>A (p.His106Asn)
c.1729C>A (p.His577Asn)
c.1864C>A (p.His622Asn)
c.1870C>A (p.His624Asn)
c.1786C>A (p.His596Asn)
c.1714C>A (p.His572Asn)
c.1648C>A (p.His550Asn)
c.1009C>A (p.His337Asn)
c.1627C>A (p.His543Asn)
9g.137776711C>GCA375776230EHMT1c.1885C>G (p.His629Asp)
c.1771C>G (p.His591Asp)
c.1792C>G (p.His598Asp)
c.1925C>G (n.1925C>G)
c.1512C>G
c.1054C>G (p.His352Asp)
c.*1620C>G (n.*1620C>G)
c.742C>G (p.His248Asp)
c.433C>G (p.His145Asp)
n.1738G>C
c.1876C>G (p.His626Asp)
c.1867C>G (p.His623Asp)
c.1894C>G (p.His632Asp)
c.1891C>G (p.His631Asp)
c.1873C>G (p.His625Asp)
c.1816C>G (p.His606Asp)
c.1750C>G (p.His584Asp)
c.316C>G (p.His106Asp)
c.1729C>G (p.His577Asp)
c.1864C>G (p.His622Asp)
c.1870C>G (p.His624Asp)
c.1786C>G (p.His596Asp)
c.1714C>G (p.His572Asp)
c.1648C>G (p.His550Asp)
c.1009C>G (p.His337Asp)
c.1627C>G (p.His543Asp)
 gnomAD v4
9g.137776711C>TCA375776232EHMT1c.1885C>T (p.His629Tyr)
c.1771C>T (p.His591Tyr)
c.1792C>T (p.His598Tyr)
c.1925C>T (n.1925C>T)
c.1512C>T
c.1054C>T (p.His352Tyr)
c.*1620C>T (n.*1620C>T)
c.742C>T (p.His248Tyr)
c.433C>T (p.His145Tyr)
n.1738G>A
c.1876C>T (p.His626Tyr)
c.1867C>T (p.His623Tyr)
c.1894C>T (p.His632Tyr)
c.1891C>T (p.His631Tyr)
c.1873C>T (p.His625Tyr)
c.1816C>T (p.His606Tyr)
c.1750C>T (p.His584Tyr)
c.316C>T (p.His106Tyr)
c.1729C>T (p.His577Tyr)
c.1864C>T (p.His622Tyr)
c.1870C>T (p.His624Tyr)
c.1786C>T (p.His596Tyr)
c.1714C>T (p.His572Tyr)
c.1648C>T (p.His550Tyr)
c.1009C>T (p.His337Tyr)
c.1627C>T (p.His543Tyr)
9g.137776712A>CCA375776237EHMT1c.1886A>C (p.His629Pro)
c.1772A>C (p.His591Pro)
c.1793A>C (p.His598Pro)
c.1926A>C (n.1926A>C)
c.1513A>C
c.1055A>C (p.His352Pro)
c.*1621A>C (n.*1621A>C)
c.743A>C (p.His248Pro)
c.434A>C (p.His145Pro)
n.1737T>G
c.1877A>C (p.His626Pro)
c.1868A>C (p.His623Pro)
c.1895A>C (p.His632Pro)
c.1892A>C (p.His631Pro)
c.1874A>C (p.His625Pro)
c.1817A>C (p.His606Pro)
c.1751A>C (p.His584Pro)
c.317A>C (p.His106Pro)
c.1730A>C (p.His577Pro)
c.1865A>C (p.His622Pro)
c.1871A>C (p.His624Pro)
c.1787A>C (p.His596Pro)
c.1715A>C (p.His572Pro)
c.1649A>C (p.His550Pro)
c.1010A>C (p.His337Pro)
c.1628A>C (p.His543Pro)
9g.137776712A>GCA375776239EHMT1c.1886A>G (p.His629Arg)
c.1772A>G (p.His591Arg)
c.1793A>G (p.His598Arg)
c.1926A>G (n.1926A>G)
c.1513A>G
c.1055A>G (p.His352Arg)
c.*1621A>G (n.*1621A>G)
c.743A>G (p.His248Arg)
c.434A>G (p.His145Arg)
n.1737T>C
c.1877A>G (p.His626Arg)
c.1868A>G (p.His623Arg)
c.1895A>G (p.His632Arg)
c.1892A>G (p.His631Arg)
c.1874A>G (p.His625Arg)
c.1817A>G (p.His606Arg)
c.1751A>G (p.His584Arg)
c.317A>G (p.His106Arg)
c.1730A>G (p.His577Arg)
c.1865A>G (p.His622Arg)
c.1871A>G (p.His624Arg)
c.1787A>G (p.His596Arg)
c.1715A>G (p.His572Arg)
c.1649A>G (p.His550Arg)
c.1010A>G (p.His337Arg)
c.1628A>G (p.His543Arg)
9g.137776712A>TCA375776243EHMT1c.1886A>T (p.His629Leu)
c.1772A>T (p.His591Leu)
c.1793A>T (p.His598Leu)
c.1926A>T (n.1926A>T)
c.1513A>T
c.1055A>T (p.His352Leu)
c.*1621A>T (n.*1621A>T)
c.743A>T (p.His248Leu)
c.434A>T (p.His145Leu)
n.1737T>A
c.1877A>T (p.His626Leu)
c.1868A>T (p.His623Leu)
c.1895A>T (p.His632Leu)
c.1892A>T (p.His631Leu)
c.1874A>T (p.His625Leu)
c.1817A>T (p.His606Leu)
c.1751A>T (p.His584Leu)
c.317A>T (p.His106Leu)
c.1730A>T (p.His577Leu)
c.1865A>T (p.His622Leu)
c.1871A>T (p.His624Leu)
c.1787A>T (p.His596Leu)
c.1715A>T (p.His572Leu)
c.1649A>T (p.His550Leu)
c.1010A>T (p.His337Leu)
c.1628A>T (p.His543Leu)
9g.137776713C>ACA375776248EHMT1c.1887C>A (p.His629Gln)
c.1773C>A (p.His591Gln)
c.1794C>A (p.His598Gln)
c.1927C>A (n.1927C>A)
c.1514C>A
c.1056C>A (p.His352Gln)
c.*1622C>A (n.*1622C>A)
c.744C>A (p.His248Gln)
c.435C>A (p.His145Gln)
n.1736G>T
c.1878C>A (p.His626Gln)
c.1869C>A (p.His623Gln)
c.1896C>A (p.His632Gln)
c.1893C>A (p.His631Gln)
c.1875C>A (p.His625Gln)
c.1818C>A (p.His606Gln)
c.1752C>A (p.His584Gln)
c.318C>A (p.His106Gln)
c.1731C>A (p.His577Gln)
c.1866C>A (p.His622Gln)
c.1872C>A (p.His624Gln)
c.1788C>A (p.His596Gln)
c.1716C>A (p.His572Gln)
c.1650C>A (p.His550Gln)
c.1011C>A (p.His337Gln)
c.1629C>A (p.His543Gln)
9g.137776713C>GCA375776250EHMT1c.1887C>G (p.His629Gln)
c.1773C>G (p.His591Gln)
c.1794C>G (p.His598Gln)
c.1927C>G (n.1927C>G)
c.1514C>G
c.1056C>G (p.His352Gln)
c.*1622C>G (n.*1622C>G)
c.744C>G (p.His248Gln)
c.435C>G (p.His145Gln)
n.1736G>C
c.1878C>G (p.His626Gln)
c.1869C>G (p.His623Gln)
c.1896C>G (p.His632Gln)
c.1893C>G (p.His631Gln)
c.1875C>G (p.His625Gln)
c.1818C>G (p.His606Gln)
c.1752C>G (p.His584Gln)
c.318C>G (p.His106Gln)
c.1731C>G (p.His577Gln)
c.1866C>G (p.His622Gln)
c.1872C>G (p.His624Gln)
c.1788C>G (p.His596Gln)
c.1716C>G (p.His572Gln)
c.1650C>G (p.His550Gln)
c.1011C>G (p.His337Gln)
c.1629C>G (p.His543Gln)
9g.137776713C>TCA467874082EHMT1c.1887C>T (p.His629=)
c.1773C>T (p.His591=)
c.1794C>T (p.His598=)
c.1927C>T (n.1927C>T)
c.1514C>T
c.1056C>T (p.His352=)
c.*1622C>T (n.*1622C>T)
c.744C>T (p.His248=)
c.435C>T (p.His145=)
n.1736G>A
c.1878C>T (p.His626=)
c.1869C>T (p.His623=)
c.1896C>T (p.His632=)
c.1893C>T (p.His631=)
c.1875C>T (p.His625=)
c.1818C>T (p.His606=)
c.1752C>T (p.His584=)
c.318C>T (p.His106=)
c.1731C>T (p.His577=)
c.1866C>T (p.His622=)
c.1872C>T (p.His624=)
c.1788C>T (p.His596=)
c.1716C>T (p.His572=)
c.1650C>T (p.His550=)
c.1011C>T (p.His337=)
c.1629C>T (p.His543=)
 gnomAD v4
9g.137776714T>ACA375776260EHMT1c.1888T>A (p.Cys630Ser)
c.1774T>A (p.Cys592Ser)
c.1795T>A (p.Cys599Ser)
c.1928T>A (n.1928T>A)
c.1515T>A
c.1057T>A (p.Cys353Ser)
c.*1623T>A (n.*1623T>A)
c.745T>A (p.Cys249Ser)
c.436T>A (p.Cys146Ser)
n.1735A>T
c.1879T>A (p.Cys627Ser)
c.1870T>A (p.Cys624Ser)
c.1897T>A (p.Cys633Ser)
c.1894T>A (p.Cys632Ser)
c.1876T>A (p.Cys626Ser)
c.1819T>A (p.Cys607Ser)
c.1753T>A (p.Cys585Ser)
c.319T>A (p.Cys107Ser)
c.1732T>A (p.Cys578Ser)
c.1867T>A (p.Cys623Ser)
c.1873T>A (p.Cys625Ser)
c.1789T>A (p.Cys597Ser)
c.1717T>A (p.Cys573Ser)
c.1651T>A (p.Cys551Ser)
c.1012T>A (p.Cys338Ser)
c.1630T>A (p.Cys544Ser)
9g.137776714T>CCA375776257EHMT1c.1888T>C (p.Cys630Arg)
c.1774T>C (p.Cys592Arg)
c.1795T>C (p.Cys599Arg)
c.1928T>C (n.1928T>C)
c.1515T>C
c.1057T>C (p.Cys353Arg)
c.*1623T>C (n.*1623T>C)
c.745T>C (p.Cys249Arg)
c.436T>C (p.Cys146Arg)
n.1735A>G
c.1879T>C (p.Cys627Arg)
c.1870T>C (p.Cys624Arg)
c.1897T>C (p.Cys633Arg)
c.1894T>C (p.Cys632Arg)
c.1876T>C (p.Cys626Arg)
c.1819T>C (p.Cys607Arg)
c.1753T>C (p.Cys585Arg)
c.319T>C (p.Cys107Arg)
c.1732T>C (p.Cys578Arg)
c.1867T>C (p.Cys623Arg)
c.1873T>C (p.Cys625Arg)
c.1789T>C (p.Cys597Arg)
c.1717T>C (p.Cys573Arg)
c.1651T>C (p.Cys551Arg)
c.1012T>C (p.Cys338Arg)
c.1630T>C (p.Cys544Arg)
9g.137776714T>GCA375776254EHMT1c.1888T>G (p.Cys630Gly)
c.1774T>G (p.Cys592Gly)
c.1795T>G (p.Cys599Gly)
c.1928T>G (n.1928T>G)
c.1515T>G
c.1057T>G (p.Cys353Gly)
c.*1623T>G (n.*1623T>G)
c.745T>G (p.Cys249Gly)
c.436T>G (p.Cys146Gly)
n.1735A>C
c.1879T>G (p.Cys627Gly)
c.1870T>G (p.Cys624Gly)
c.1897T>G (p.Cys633Gly)
c.1894T>G (p.Cys632Gly)
c.1876T>G (p.Cys626Gly)
c.1819T>G (p.Cys607Gly)
c.1753T>G (p.Cys585Gly)
c.319T>G (p.Cys107Gly)
c.1732T>G (p.Cys578Gly)
c.1867T>G (p.Cys623Gly)
c.1873T>G (p.Cys625Gly)
c.1789T>G (p.Cys597Gly)
c.1717T>G (p.Cys573Gly)
c.1651T>G (p.Cys551Gly)
c.1012T>G (p.Cys338Gly)
c.1630T>G (p.Cys544Gly)
9g.137776715G>ACA375776261EHMT1c.1889G>A (p.Cys630Tyr)
c.1775G>A (p.Cys592Tyr)
c.1796G>A (p.Cys599Tyr)
c.1929G>A (n.1929G>A)
c.1516G>A
c.1058G>A (p.Cys353Tyr)
c.*1624G>A (n.*1624G>A)
c.746G>A (p.Cys249Tyr)
c.437G>A (p.Cys146Tyr)
n.1734C>T
c.1880G>A (p.Cys627Tyr)
c.1871G>A (p.Cys624Tyr)
c.1898G>A (p.Cys633Tyr)
c.1895G>A (p.Cys632Tyr)
c.1877G>A (p.Cys626Tyr)
c.1820G>A (p.Cys607Tyr)
c.1754G>A (p.Cys585Tyr)
c.320G>A (p.Cys107Tyr)
c.1733G>A (p.Cys578Tyr)
c.1868G>A (p.Cys623Tyr)
c.1874G>A (p.Cys625Tyr)
c.1790G>A (p.Cys597Tyr)
c.1718G>A (p.Cys573Tyr)
c.1652G>A (p.Cys551Tyr)
c.1013G>A (p.Cys338Tyr)
c.1631G>A (p.Cys544Tyr)
9g.137776715G>CCA375776262EHMT1c.1889G>C (p.Cys630Ser)
c.1775G>C (p.Cys592Ser)
c.1796G>C (p.Cys599Ser)
c.1929G>C (n.1929G>C)
c.1516G>C
c.1058G>C (p.Cys353Ser)
c.*1624G>C (n.*1624G>C)
c.746G>C (p.Cys249Ser)
c.437G>C (p.Cys146Ser)
n.1734C>G
c.1880G>C (p.Cys627Ser)
c.1871G>C (p.Cys624Ser)
c.1898G>C (p.Cys633Ser)
c.1895G>C (p.Cys632Ser)
c.1877G>C (p.Cys626Ser)
c.1820G>C (p.Cys607Ser)
c.1754G>C (p.Cys585Ser)
c.320G>C (p.Cys107Ser)
c.1733G>C (p.Cys578Ser)
c.1868G>C (p.Cys623Ser)
c.1874G>C (p.Cys625Ser)
c.1790G>C (p.Cys597Ser)
c.1718G>C (p.Cys573Ser)
c.1652G>C (p.Cys551Ser)
c.1013G>C (p.Cys338Ser)
c.1631G>C (p.Cys544Ser)
9g.137776715G>TCA375776263EHMT1c.1889G>T (p.Cys630Phe)
c.1775G>T (p.Cys592Phe)
c.1796G>T (p.Cys599Phe)
c.1929G>T (n.1929G>T)
c.1516G>T
c.1058G>T (p.Cys353Phe)
c.*1624G>T (n.*1624G>T)
c.746G>T (p.Cys249Phe)
c.437G>T (p.Cys146Phe)
n.1734C>A
c.1880G>T (p.Cys627Phe)
c.1871G>T (p.Cys624Phe)
c.1898G>T (p.Cys633Phe)
c.1895G>T (p.Cys632Phe)
c.1877G>T (p.Cys626Phe)
c.1820G>T (p.Cys607Phe)
c.1754G>T (p.Cys585Phe)
c.320G>T (p.Cys107Phe)
c.1733G>T (p.Cys578Phe)
c.1868G>T (p.Cys623Phe)
c.1874G>T (p.Cys625Phe)
c.1790G>T (p.Cys597Phe)
c.1718G>T (p.Cys573Phe)
c.1652G>T (p.Cys551Phe)
c.1013G>T (p.Cys338Phe)
c.1631G>T (p.Cys544Phe)
9g.137776716T>ACA375776265EHMT1c.1890T>A (p.Cys630Ter)
c.1776T>A (p.Cys592Ter)
c.1797T>A (p.Cys599Ter)
c.1930T>A (n.1930T>A)
c.1517T>A
c.1059T>A (p.Cys353Ter)
c.*1625T>A (n.*1625T>A)
c.747T>A (p.Cys249Ter)
c.438T>A (p.Cys146Ter)
n.1733A>T
c.1881T>A (p.Cys627Ter)
c.1872T>A (p.Cys624Ter)
c.1899T>A (p.Cys633Ter)
c.1896T>A (p.Cys632Ter)
c.1878T>A (p.Cys626Ter)
c.1821T>A (p.Cys607Ter)
c.1755T>A (p.Cys585Ter)
c.321T>A (p.Cys107Ter)
c.1734T>A (p.Cys578Ter)
c.1869T>A (p.Cys623Ter)
c.1875T>A (p.Cys625Ter)
c.1791T>A (p.Cys597Ter)
c.1719T>A (p.Cys573Ter)
c.1653T>A (p.Cys551Ter)
c.1014T>A (p.Cys338Ter)
c.1632T>A (p.Cys544Ter)
9g.137776716T>CCA467874083EHMT1c.1890T>C (p.Cys630=)
c.1776T>C (p.Cys592=)
c.1797T>C (p.Cys599=)
c.1930T>C (n.1930T>C)
c.1517T>C
c.1059T>C (p.Cys353=)
c.*1625T>C (n.*1625T>C)
c.747T>C (p.Cys249=)
c.438T>C (p.Cys146=)
n.1733A>G
c.1881T>C (p.Cys627=)
c.1872T>C (p.Cys624=)
c.1899T>C (p.Cys633=)
c.1896T>C (p.Cys632=)
c.1878T>C (p.Cys626=)
c.1821T>C (p.Cys607=)
c.1755T>C (p.Cys585=)
c.321T>C (p.Cys107=)
c.1734T>C (p.Cys578=)
c.1869T>C (p.Cys623=)
c.1875T>C (p.Cys625=)
c.1791T>C (p.Cys597=)
c.1719T>C (p.Cys573=)
c.1653T>C (p.Cys551=)
c.1014T>C (p.Cys338=)
c.1632T>C (p.Cys544=)
9g.137776716T>GCA375776268EHMT1c.1890T>G (p.Cys630Trp)
c.1776T>G (p.Cys592Trp)
c.1797T>G (p.Cys599Trp)
c.1930T>G (n.1930T>G)
c.1517T>G
c.1059T>G (p.Cys353Trp)
c.*1625T>G (n.*1625T>G)
c.747T>G (p.Cys249Trp)
c.438T>G (p.Cys146Trp)
n.1733A>C
c.1881T>G (p.Cys627Trp)
c.1872T>G (p.Cys624Trp)
c.1899T>G (p.Cys633Trp)
c.1896T>G (p.Cys632Trp)
c.1878T>G (p.Cys626Trp)
c.1821T>G (p.Cys607Trp)
c.1755T>G (p.Cys585Trp)
c.321T>G (p.Cys107Trp)
c.1734T>G (p.Cys578Trp)
c.1869T>G (p.Cys623Trp)
c.1875T>G (p.Cys625Trp)
c.1791T>G (p.Cys597Trp)
c.1719T>G (p.Cys573Trp)
c.1653T>G (p.Cys551Trp)
c.1014T>G (p.Cys338Trp)
c.1632T>G (p.Cys544Trp)
9g.137776717G>ACA375776275EHMT1c.1891G>A (p.Gly631Arg)
c.1777G>A (p.Gly593Arg)
c.1798G>A (p.Gly600Arg)
c.1931G>A (n.1931G>A)
c.1518G>A
c.1060G>A (p.Gly354Arg)
c.*1626G>A (n.*1626G>A)
c.748G>A (p.Gly250Arg)
c.439G>A (p.Gly147Arg)
n.1732C>T
c.1882G>A (p.Gly628Arg)
c.1873G>A (p.Gly625Arg)
c.1900G>A (p.Gly634Arg)
c.1897G>A (p.Gly633Arg)
c.1879G>A (p.Gly627Arg)
c.1822G>A (p.Gly608Arg)
c.1756G>A (p.Gly586Arg)
c.322G>A (p.Gly108Arg)
c.1735G>A (p.Gly579Arg)
c.1870G>A (p.Gly624Arg)
c.1876G>A (p.Gly626Arg)
c.1792G>A (p.Gly598Arg)
c.1720G>A (p.Gly574Arg)
c.1654G>A (p.Gly552Arg)
c.1015G>A (p.Gly339Arg)
c.1633G>A (p.Gly545Arg)
9g.137776717G>CCA375776273EHMT1c.1891G>C (p.Gly631Arg)
c.1777G>C (p.Gly593Arg)
c.1798G>C (p.Gly600Arg)
c.1931G>C (n.1931G>C)
c.1518G>C
c.1060G>C (p.Gly354Arg)
c.*1626G>C (n.*1626G>C)
c.748G>C (p.Gly250Arg)
c.439G>C (p.Gly147Arg)
n.1732C>G
c.1882G>C (p.Gly628Arg)
c.1873G>C (p.Gly625Arg)
c.1900G>C (p.Gly634Arg)
c.1897G>C (p.Gly633Arg)
c.1879G>C (p.Gly627Arg)
c.1822G>C (p.Gly608Arg)
c.1756G>C (p.Gly586Arg)
c.322G>C (p.Gly108Arg)
c.1735G>C (p.Gly579Arg)
c.1870G>C (p.Gly624Arg)
c.1876G>C (p.Gly626Arg)
c.1792G>C (p.Gly598Arg)
c.1720G>C (p.Gly574Arg)
c.1654G>C (p.Gly552Arg)
c.1015G>C (p.Gly339Arg)
c.1633G>C (p.Gly545Arg)
9g.137776717G>TCA375776271EHMT1c.1891G>T (p.Gly631Trp)
c.1777G>T (p.Gly593Trp)
c.1798G>T (p.Gly600Trp)
c.1931G>T (n.1931G>T)
c.1518G>T
c.1060G>T (p.Gly354Trp)
c.*1626G>T (n.*1626G>T)
c.748G>T (p.Gly250Trp)
c.439G>T (p.Gly147Trp)
n.1732C>A
c.1882G>T (p.Gly628Trp)
c.1873G>T (p.Gly625Trp)
c.1900G>T (p.Gly634Trp)
c.1897G>T (p.Gly633Trp)
c.1879G>T (p.Gly627Trp)
c.1822G>T (p.Gly608Trp)
c.1756G>T (p.Gly586Trp)
c.322G>T (p.Gly108Trp)
c.1735G>T (p.Gly579Trp)
c.1870G>T (p.Gly624Trp)
c.1876G>T (p.Gly626Trp)
c.1792G>T (p.Gly598Trp)
c.1720G>T (p.Gly574Trp)
c.1654G>T (p.Gly552Trp)
c.1015G>T (p.Gly339Trp)
c.1633G>T (p.Gly545Trp)
9g.137776718G>ACA375776276EHMT1c.1892G>A (p.Gly631Glu)
c.1778G>A (p.Gly593Glu)
c.1799G>A (p.Gly600Glu)
c.1932G>A (n.1932G>A)
c.1519G>A
c.1061G>A (p.Gly354Glu)
c.*1627G>A (n.*1627G>A)
c.749G>A (p.Gly250Glu)
c.440G>A (p.Gly147Glu)
n.1731C>T
c.1883G>A (p.Gly628Glu)
c.1874G>A (p.Gly625Glu)
c.1901G>A (p.Gly634Glu)
c.1898G>A (p.Gly633Glu)
c.1880G>A (p.Gly627Glu)
c.1823G>A (p.Gly608Glu)
c.1757G>A (p.Gly586Glu)
c.323G>A (p.Gly108Glu)
c.1736G>A (p.Gly579Glu)
c.1871G>A (p.Gly624Glu)
c.1877G>A (p.Gly626Glu)
c.1793G>A (p.Gly598Glu)
c.1721G>A (p.Gly574Glu)
c.1655G>A (p.Gly552Glu)
c.1016G>A (p.Gly339Glu)
c.1634G>A (p.Gly545Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137776718G>CCA375776277EHMT1c.1892G>C (p.Gly631Ala)
c.1778G>C (p.Gly593Ala)
c.1799G>C (p.Gly600Ala)
c.1932G>C (n.1932G>C)
c.1519G>C
c.1061G>C (p.Gly354Ala)
c.*1627G>C (n.*1627G>C)
c.749G>C (p.Gly250Ala)
c.440G>C (p.Gly147Ala)
n.1731C>G
c.1883G>C (p.Gly628Ala)
c.1874G>C (p.Gly625Ala)
c.1901G>C (p.Gly634Ala)
c.1898G>C (p.Gly633Ala)
c.1880G>C (p.Gly627Ala)
c.1823G>C (p.Gly608Ala)
c.1757G>C (p.Gly586Ala)
c.323G>C (p.Gly108Ala)
c.1736G>C (p.Gly579Ala)
c.1871G>C (p.Gly624Ala)
c.1877G>C (p.Gly626Ala)
c.1793G>C (p.Gly598Ala)
c.1721G>C (p.Gly574Ala)
c.1655G>C (p.Gly552Ala)
c.1016G>C (p.Gly339Ala)
c.1634G>C (p.Gly545Ala)
9g.137776718G=CA1884666495EHMT1c.1892G= (p.Gly631=)
c.1778G= (p.Gly593=)
c.1799G= (p.Gly600=)
c.1932G= (n.1932G=)
c.1519G=
c.1061G= (p.Gly354=)
c.*1627G= (n.*1627G=)
c.749G= (p.Gly250=)
c.440G= (p.Gly147=)
n.1731C=
c.1883G= (p.Gly628=)
c.1874G= (p.Gly625=)
c.1901G= (p.Gly634=)
c.1898G= (p.Gly633=)
c.1880G= (p.Gly627=)
c.1823G= (p.Gly608=)
c.1757G= (p.Gly586=)
c.323G= (p.Gly108=)
c.1736G= (p.Gly579=)
c.1871G= (p.Gly624=)
c.1877G= (p.Gly626=)
c.1793G= (p.Gly598=)
c.1721G= (p.Gly574=)
c.1655G= (p.Gly552=)
c.1016G= (p.Gly339=)
c.1634G= (p.Gly545=)
9g.137776718G>TCA375776278EHMT1c.1892G>T (p.Gly631Val)
c.1778G>T (p.Gly593Val)
c.1799G>T (p.Gly600Val)
c.1932G>T (n.1932G>T)
c.1519G>T
c.1061G>T (p.Gly354Val)
c.*1627G>T (n.*1627G>T)
c.749G>T (p.Gly250Val)
c.440G>T (p.Gly147Val)
n.1731C>A
c.1883G>T (p.Gly628Val)
c.1874G>T (p.Gly625Val)
c.1901G>T (p.Gly634Val)
c.1898G>T (p.Gly633Val)
c.1880G>T (p.Gly627Val)
c.1823G>T (p.Gly608Val)
c.1757G>T (p.Gly586Val)
c.323G>T (p.Gly108Val)
c.1736G>T (p.Gly579Val)
c.1871G>T (p.Gly624Val)
c.1877G>T (p.Gly626Val)
c.1793G>T (p.Gly598Val)
c.1721G>T (p.Gly574Val)
c.1655G>T (p.Gly552Val)
c.1016G>T (p.Gly339Val)
c.1634G>T (p.Gly545Val)
9g.137776719G>ACA467874084EHMT1c.1893G>A (p.Gly631=)
c.1779G>A (p.Gly593=)
c.1800G>A (p.Gly600=)
c.1933G>A (n.1933G>A)
c.1520G>A
c.1062G>A (p.Gly354=)
c.*1628G>A (n.*1628G>A)
c.750G>A (p.Gly250=)
c.441G>A (p.Gly147=)
n.1730C>T
c.1884G>A (p.Gly628=)
c.1875G>A (p.Gly625=)
c.1902G>A (p.Gly634=)
c.1899G>A (p.Gly633=)
c.1881G>A (p.Gly627=)
c.1824G>A (p.Gly608=)
c.1758G>A (p.Gly586=)
c.324G>A (p.Gly108=)
c.1737G>A (p.Gly579=)
c.1872G>A (p.Gly624=)
c.1878G>A (p.Gly626=)
c.1794G>A (p.Gly598=)
c.1722G>A (p.Gly574=)
c.1656G>A (p.Gly552=)
c.1017G>A (p.Gly339=)
c.1635G>A (p.Gly545=)
 gnomAD v4
9g.137776719G>CCA467874085EHMT1c.1893G>C (p.Gly631=)
c.1779G>C (p.Gly593=)
c.1800G>C (p.Gly600=)
c.1933G>C (n.1933G>C)
c.1520G>C
c.1062G>C (p.Gly354=)
c.*1628G>C (n.*1628G>C)
c.750G>C (p.Gly250=)
c.441G>C (p.Gly147=)
n.1730C>G
c.1884G>C (p.Gly628=)
c.1875G>C (p.Gly625=)
c.1902G>C (p.Gly634=)
c.1899G>C (p.Gly633=)
c.1881G>C (p.Gly627=)
c.1824G>C (p.Gly608=)
c.1758G>C (p.Gly586=)
c.324G>C (p.Gly108=)
c.1737G>C (p.Gly579=)
c.1872G>C (p.Gly624=)
c.1878G>C (p.Gly626=)
c.1794G>C (p.Gly598=)
c.1722G>C (p.Gly574=)
c.1656G>C (p.Gly552=)
c.1017G>C (p.Gly339=)
c.1635G>C (p.Gly545=)
9g.137776719G>TCA467874086EHMT1c.1893G>T (p.Gly631=)
c.1779G>T (p.Gly593=)
c.1800G>T (p.Gly600=)
c.1933G>T (n.1933G>T)
c.1520G>T
c.1062G>T (p.Gly354=)
c.*1628G>T (n.*1628G>T)
c.750G>T (p.Gly250=)
c.441G>T (p.Gly147=)
n.1730C>A
c.1884G>T (p.Gly628=)
c.1875G>T (p.Gly625=)
c.1902G>T (p.Gly634=)
c.1899G>T (p.Gly633=)
c.1881G>T (p.Gly627=)
c.1824G>T (p.Gly608=)
c.1758G>T (p.Gly586=)
c.324G>T (p.Gly108=)
c.1737G>T (p.Gly579=)
c.1872G>T (p.Gly624=)
c.1878G>T (p.Gly626=)
c.1794G>T (p.Gly598=)
c.1722G>T (p.Gly574=)
c.1656G>T (p.Gly552=)
c.1017G>T (p.Gly339=)
c.1635G>T (p.Gly545=)
9g.137776720G>ACA375776279EHMT1c.1894G>A (p.Glu632Lys)
c.1780G>A (p.Glu594Lys)
c.1801G>A (p.Glu601Lys)
c.1934G>A (n.1934G>A)
c.1521G>A
c.1063G>A (p.Glu355Lys)
c.*1629G>A (n.*1629G>A)
c.751G>A (p.Glu251Lys)
c.442G>A (p.Glu148Lys)
n.1729C>T
c.1885G>A (p.Glu629Lys)
c.1876G>A (p.Glu626Lys)
c.1903G>A (p.Glu635Lys)
c.1900G>A (p.Glu634Lys)
c.1882G>A (p.Glu628Lys)
c.1825G>A (p.Glu609Lys)
c.1759G>A (p.Glu587Lys)
c.325G>A (p.Glu109Lys)
c.1738G>A (p.Glu580Lys)
c.1873G>A (p.Glu625Lys)
c.1879G>A (p.Glu627Lys)
c.1795G>A (p.Glu599Lys)
c.1723G>A (p.Glu575Lys)
c.1657G>A (p.Glu553Lys)
c.1018G>A (p.Glu340Lys)
c.1636G>A (p.Glu546Lys)
9g.137776720G>CCA375776281EHMT1c.1894G>C (p.Glu632Gln)
c.1780G>C (p.Glu594Gln)
c.1801G>C (p.Glu601Gln)
c.1934G>C (n.1934G>C)
c.1521G>C
c.1063G>C (p.Glu355Gln)
c.*1629G>C (n.*1629G>C)
c.751G>C (p.Glu251Gln)
c.442G>C (p.Glu148Gln)
n.1729C>G
c.1885G>C (p.Glu629Gln)
c.1876G>C (p.Glu626Gln)
c.1903G>C (p.Glu635Gln)
c.1900G>C (p.Glu634Gln)
c.1882G>C (p.Glu628Gln)
c.1825G>C (p.Glu609Gln)
c.1759G>C (p.Glu587Gln)
c.325G>C (p.Glu109Gln)
c.1738G>C (p.Glu580Gln)
c.1873G>C (p.Glu625Gln)
c.1879G>C (p.Glu627Gln)
c.1795G>C (p.Glu599Gln)
c.1723G>C (p.Glu575Gln)
c.1657G>C (p.Glu553Gln)
c.1018G>C (p.Glu340Gln)
c.1636G>C (p.Glu546Gln)
9g.137776720G>TCA375776282EHMT1c.1894G>T (p.Glu632Ter)
c.1780G>T (p.Glu594Ter)
c.1801G>T (p.Glu601Ter)
c.1934G>T (n.1934G>T)
c.1521G>T
c.1063G>T (p.Glu355Ter)
c.*1629G>T (n.*1629G>T)
c.751G>T (p.Glu251Ter)
c.442G>T (p.Glu148Ter)
n.1729C>A
c.1885G>T (p.Glu629Ter)
c.1876G>T (p.Glu626Ter)
c.1903G>T (p.Glu635Ter)
c.1900G>T (p.Glu634Ter)
c.1882G>T (p.Glu628Ter)
c.1825G>T (p.Glu609Ter)
c.1759G>T (p.Glu587Ter)
c.325G>T (p.Glu109Ter)
c.1738G>T (p.Glu580Ter)
c.1873G>T (p.Glu625Ter)
c.1879G>T (p.Glu627Ter)
c.1795G>T (p.Glu599Ter)
c.1723G>T (p.Glu575Ter)
c.1657G>T (p.Glu553Ter)
c.1018G>T (p.Glu340Ter)
c.1636G>T (p.Glu546Ter)
9g.137776721A>CCA375776286EHMT1c.1895A>C (p.Glu632Ala)
c.1781A>C (p.Glu594Ala)
c.1802A>C (p.Glu601Ala)
c.1935A>C (n.1935A>C)
c.1522A>C
c.1064A>C (p.Glu355Ala)
c.*1630A>C (n.*1630A>C)
c.752A>C (p.Glu251Ala)
c.443A>C (p.Glu148Ala)
n.1728T>G
c.1886A>C (p.Glu629Ala)
c.1877A>C (p.Glu626Ala)
c.1904A>C (p.Glu635Ala)
c.1901A>C (p.Glu634Ala)
c.1883A>C (p.Glu628Ala)
c.1826A>C (p.Glu609Ala)
c.1760A>C (p.Glu587Ala)
c.326A>C (p.Glu109Ala)
c.1739A>C (p.Glu580Ala)
c.1874A>C (p.Glu625Ala)
c.1880A>C (p.Glu627Ala)
c.1796A>C (p.Glu599Ala)
c.1724A>C (p.Glu575Ala)
c.1658A>C (p.Glu553Ala)
c.1019A>C (p.Glu340Ala)
c.1637A>C (p.Glu546Ala)
9g.137776721A>GCA375776294EHMT1c.1895A>G (p.Glu632Gly)
c.1781A>G (p.Glu594Gly)
c.1802A>G (p.Glu601Gly)
c.1935A>G (n.1935A>G)
c.1522A>G
c.1064A>G (p.Glu355Gly)
c.*1630A>G (n.*1630A>G)
c.752A>G (p.Glu251Gly)
c.443A>G (p.Glu148Gly)
n.1728T>C
c.1886A>G (p.Glu629Gly)
c.1877A>G (p.Glu626Gly)
c.1904A>G (p.Glu635Gly)
c.1901A>G (p.Glu634Gly)
c.1883A>G (p.Glu628Gly)
c.1826A>G (p.Glu609Gly)
c.1760A>G (p.Glu587Gly)
c.326A>G (p.Glu109Gly)
c.1739A>G (p.Glu580Gly)
c.1874A>G (p.Glu625Gly)
c.1880A>G (p.Glu627Gly)
c.1796A>G (p.Glu599Gly)
c.1724A>G (p.Glu575Gly)
c.1658A>G (p.Glu553Gly)
c.1019A>G (p.Glu340Gly)
c.1637A>G (p.Glu546Gly)
9g.137776721A>TCA375776290EHMT1c.1895A>T (p.Glu632Val)
c.1781A>T (p.Glu594Val)
c.1802A>T (p.Glu601Val)
c.1935A>T (n.1935A>T)
c.1522A>T
c.1064A>T (p.Glu355Val)
c.*1630A>T (n.*1630A>T)
c.752A>T (p.Glu251Val)
c.443A>T (p.Glu148Val)
n.1728T>A
c.1886A>T (p.Glu629Val)
c.1877A>T (p.Glu626Val)
c.1904A>T (p.Glu635Val)
c.1901A>T (p.Glu634Val)
c.1883A>T (p.Glu628Val)
c.1826A>T (p.Glu609Val)
c.1760A>T (p.Glu587Val)
c.326A>T (p.Glu109Val)
c.1739A>T (p.Glu580Val)
c.1874A>T (p.Glu625Val)
c.1880A>T (p.Glu627Val)
c.1796A>T (p.Glu599Val)
c.1724A>T (p.Glu575Val)
c.1658A>T (p.Glu553Val)
c.1019A>T (p.Glu340Val)
c.1637A>T (p.Glu546Val)
9g.137776722G>ACA467874087EHMT1c.1896G>A (p.Glu632=)
c.1782G>A (p.Glu594=)
c.1803G>A (p.Glu601=)
c.1936G>A (n.1936G>A)
c.1523G>A
c.1065G>A (p.Glu355=)
c.*1631G>A (n.*1631G>A)
c.753G>A (p.Glu251=)
c.444G>A (p.Glu148=)
n.1727C>T
c.1887G>A (p.Glu629=)
c.1878G>A (p.Glu626=)
c.1905G>A (p.Glu635=)
c.1902G>A (p.Glu634=)
c.1884G>A (p.Glu628=)
c.1827G>A (p.Glu609=)
c.1761G>A (p.Glu587=)
c.327G>A (p.Glu109=)
c.1740G>A (p.Glu580=)
c.1875G>A (p.Glu625=)
c.1881G>A (p.Glu627=)
c.1797G>A (p.Glu599=)
c.1725G>A (p.Glu575=)
c.1659G>A (p.Glu553=)
c.1020G>A (p.Glu340=)
c.1638G>A (p.Glu546=)
 gnomAD v4
9g.137776722G>CCA375776297EHMT1c.1896G>C (p.Glu632Asp)
c.1782G>C (p.Glu594Asp)
c.1803G>C (p.Glu601Asp)
c.1936G>C (n.1936G>C)
c.1523G>C
c.1065G>C (p.Glu355Asp)
c.*1631G>C (n.*1631G>C)
c.753G>C (p.Glu251Asp)
c.444G>C (p.Glu148Asp)
n.1727C>G
c.1887G>C (p.Glu629Asp)
c.1878G>C (p.Glu626Asp)
c.1905G>C (p.Glu635Asp)
c.1902G>C (p.Glu634Asp)
c.1884G>C (p.Glu628Asp)
c.1827G>C (p.Glu609Asp)
c.1761G>C (p.Glu587Asp)
c.327G>C (p.Glu109Asp)
c.1740G>C (p.Glu580Asp)
c.1875G>C (p.Glu625Asp)
c.1881G>C (p.Glu627Asp)
c.1797G>C (p.Glu599Asp)
c.1725G>C (p.Glu575Asp)
c.1659G>C (p.Glu553Asp)
c.1020G>C (p.Glu340Asp)
c.1638G>C (p.Glu546Asp)
9g.137776722G=CA1884666496EHMT1c.1896G= (p.Glu632=)
c.1782G= (p.Glu594=)
c.1803G= (p.Glu601=)
c.1936G= (n.1936G=)
c.1523G=
c.1065G= (p.Glu355=)
c.*1631G= (n.*1631G=)
c.753G= (p.Glu251=)
c.444G= (p.Glu148=)
n.1727C=
c.1887G= (p.Glu629=)
c.1878G= (p.Glu626=)
c.1905G= (p.Glu635=)
c.1902G= (p.Glu634=)
c.1884G= (p.Glu628=)
c.1827G= (p.Glu609=)
c.1761G= (p.Glu587=)
c.327G= (p.Glu109=)
c.1740G= (p.Glu580=)
c.1875G= (p.Glu625=)
c.1881G= (p.Glu627=)
c.1797G= (p.Glu599=)
c.1725G= (p.Glu575=)
c.1659G= (p.Glu553=)
c.1020G= (p.Glu340=)
c.1638G= (p.Glu546=)
9g.137776722G>TCA5374754EHMT1c.1896G>T (p.Glu632Asp)
c.1782G>T (p.Glu594Asp)
c.1803G>T (p.Glu601Asp)
c.1936G>T (n.1936G>T)
c.1523G>T
c.1065G>T (p.Glu355Asp)
c.*1631G>T (n.*1631G>T)
c.753G>T (p.Glu251Asp)
c.444G>T (p.Glu148Asp)
n.1727C>A
c.1887G>T (p.Glu629Asp)
c.1878G>T (p.Glu626Asp)
c.1905G>T (p.Glu635Asp)
c.1902G>T (p.Glu634Asp)
c.1884G>T (p.Glu628Asp)
c.1827G>T (p.Glu609Asp)
c.1761G>T (p.Glu587Asp)
c.327G>T (p.Glu109Asp)
c.1740G>T (p.Glu580Asp)
c.1875G>T (p.Glu625Asp)
c.1881G>T (p.Glu627Asp)
c.1797G>T (p.Glu599Asp)
c.1725G>T (p.Glu575Asp)
c.1659G>T (p.Glu553Asp)
c.1020G>T (p.Glu340Asp)
c.1638G>T (p.Glu546Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137776723G>ACA375776303EHMT1c.1897G>A (p.Glu633Lys)
c.1783G>A (p.Glu595Lys)
c.1804G>A (p.Glu602Lys)
c.1937G>A (n.1937G>A)
c.1524G>A
c.1066G>A (p.Glu356Lys)
c.*1632G>A (n.*1632G>A)
c.754G>A (p.Glu252Lys)
c.445G>A (p.Glu149Lys)
n.1726C>T
c.1888G>A (p.Glu630Lys)
c.1879G>A (p.Glu627Lys)
c.1906G>A (p.Glu636Lys)
c.1903G>A (p.Glu635Lys)
c.1885G>A (p.Glu629Lys)
c.1828G>A (p.Glu610Lys)
c.1762G>A (p.Glu588Lys)
c.328G>A (p.Glu110Lys)
c.1741G>A (p.Glu581Lys)
c.1876G>A (p.Glu626Lys)
c.1882G>A (p.Glu628Lys)
c.1798G>A (p.Glu600Lys)
c.1726G>A (p.Glu576Lys)
c.1660G>A (p.Glu554Lys)
c.1021G>A (p.Glu341Lys)
c.1639G>A (p.Glu547Lys)
9g.137776723G>CCA375776304EHMT1c.1897G>C (p.Glu633Gln)
c.1783G>C (p.Glu595Gln)
c.1804G>C (p.Glu602Gln)
c.1937G>C (n.1937G>C)
c.1524G>C
c.1066G>C (p.Glu356Gln)
c.*1632G>C (n.*1632G>C)
c.754G>C (p.Glu252Gln)
c.445G>C (p.Glu149Gln)
n.1726C>G
c.1888G>C (p.Glu630Gln)
c.1879G>C (p.Glu627Gln)
c.1906G>C (p.Glu636Gln)
c.1903G>C (p.Glu635Gln)
c.1885G>C (p.Glu629Gln)
c.1828G>C (p.Glu610Gln)
c.1762G>C (p.Glu588Gln)
c.328G>C (p.Glu110Gln)
c.1741G>C (p.Glu581Gln)
c.1876G>C (p.Glu626Gln)
c.1882G>C (p.Glu628Gln)
c.1798G>C (p.Glu600Gln)
c.1726G>C (p.Glu576Gln)
c.1660G>C (p.Glu554Gln)
c.1021G>C (p.Glu341Gln)
c.1639G>C (p.Glu547Gln)
9g.137776723G>TCA375776305EHMT1c.1897G>T (p.Glu633Ter)
c.1783G>T (p.Glu595Ter)
c.1804G>T (p.Glu602Ter)
c.1937G>T (n.1937G>T)
c.1524G>T
c.1066G>T (p.Glu356Ter)
c.*1632G>T (n.*1632G>T)
c.754G>T (p.Glu252Ter)
c.445G>T (p.Glu149Ter)
n.1726C>A
c.1888G>T (p.Glu630Ter)
c.1879G>T (p.Glu627Ter)
c.1906G>T (p.Glu636Ter)
c.1903G>T (p.Glu635Ter)
c.1885G>T (p.Glu629Ter)
c.1828G>T (p.Glu610Ter)
c.1762G>T (p.Glu588Ter)
c.328G>T (p.Glu110Ter)
c.1741G>T (p.Glu581Ter)
c.1876G>T (p.Glu626Ter)
c.1882G>T (p.Glu628Ter)
c.1798G>T (p.Glu600Ter)
c.1726G>T (p.Glu576Ter)
c.1660G>T (p.Glu554Ter)
c.1021G>T (p.Glu341Ter)
c.1639G>T (p.Glu547Ter)
9g.137776724A>CCA375776306EHMT1c.1898A>C (p.Glu633Ala)
c.1784A>C (p.Glu595Ala)
c.1805A>C (p.Glu602Ala)
c.1938A>C (n.1938A>C)
c.1525A>C
c.1067A>C (p.Glu356Ala)
c.*1633A>C (n.*1633A>C)
c.755A>C (p.Glu252Ala)
c.446A>C (p.Glu149Ala)
n.1725T>G
c.1889A>C (p.Glu630Ala)
c.1880A>C (p.Glu627Ala)
c.1907A>C (p.Glu636Ala)
c.1904A>C (p.Glu635Ala)
c.1886A>C (p.Glu629Ala)
c.1829A>C (p.Glu610Ala)
c.1763A>C (p.Glu588Ala)
c.329A>C (p.Glu110Ala)
c.1742A>C (p.Glu581Ala)
c.1877A>C (p.Glu626Ala)
c.1883A>C (p.Glu628Ala)
c.1799A>C (p.Glu600Ala)
c.1727A>C (p.Glu576Ala)
c.1661A>C (p.Glu554Ala)
c.1022A>C (p.Glu341Ala)
c.1640A>C (p.Glu547Ala)
9g.137776724A>GCA375776308EHMT1c.1898A>G (p.Glu633Gly)
c.1784A>G (p.Glu595Gly)
c.1805A>G (p.Glu602Gly)
c.1938A>G (n.1938A>G)
c.1525A>G
c.1067A>G (p.Glu356Gly)
c.*1633A>G (n.*1633A>G)
c.755A>G (p.Glu252Gly)
c.446A>G (p.Glu149Gly)
n.1725T>C
c.1889A>G (p.Glu630Gly)
c.1880A>G (p.Glu627Gly)
c.1907A>G (p.Glu636Gly)
c.1904A>G (p.Glu635Gly)
c.1886A>G (p.Glu629Gly)
c.1829A>G (p.Glu610Gly)
c.1763A>G (p.Glu588Gly)
c.329A>G (p.Glu110Gly)
c.1742A>G (p.Glu581Gly)
c.1877A>G (p.Glu626Gly)
c.1883A>G (p.Glu628Gly)
c.1799A>G (p.Glu600Gly)
c.1727A>G (p.Glu576Gly)
c.1661A>G (p.Glu554Gly)
c.1022A>G (p.Glu341Gly)
c.1640A>G (p.Glu547Gly)
9g.137776724A>TCA375776310EHMT1c.1898A>T (p.Glu633Val)
c.1784A>T (p.Glu595Val)
c.1805A>T (p.Glu602Val)
c.1938A>T (n.1938A>T)
c.1525A>T
c.1067A>T (p.Glu356Val)
c.*1633A>T (n.*1633A>T)
c.755A>T (p.Glu252Val)
c.446A>T (p.Glu149Val)
n.1725T>A
c.1889A>T (p.Glu630Val)
c.1880A>T (p.Glu627Val)
c.1907A>T (p.Glu636Val)
c.1904A>T (p.Glu635Val)
c.1886A>T (p.Glu629Val)
c.1829A>T (p.Glu610Val)
c.1763A>T (p.Glu588Val)
c.329A>T (p.Glu110Val)
c.1742A>T (p.Glu581Val)
c.1877A>T (p.Glu626Val)
c.1883A>T (p.Glu628Val)
c.1799A>T (p.Glu600Val)
c.1727A>T (p.Glu576Val)
c.1661A>T (p.Glu554Val)
c.1022A>T (p.Glu341Val)
c.1640A>T (p.Glu547Val)
9g.137776725G>ACA467874088EHMT1c.1899G>A (p.Glu633=)
c.1785G>A (p.Glu595=)
c.1806G>A (p.Glu602=)
c.1939G>A (n.1939G>A)
c.1526G>A
c.1068G>A (p.Glu356=)
c.*1634G>A (n.*1634G>A)
c.756G>A (p.Glu252=)
c.447G>A (p.Glu149=)
n.1724C>T
c.1890G>A (p.Glu630=)
c.1881G>A (p.Glu627=)
c.1908G>A (p.Glu636=)
c.1905G>A (p.Glu635=)
c.1887G>A (p.Glu629=)
c.1830G>A (p.Glu610=)
c.1764G>A (p.Glu588=)
c.330G>A (p.Glu110=)
c.1743G>A (p.Glu581=)
c.1878G>A (p.Glu626=)
c.1884G>A (p.Glu628=)
c.1800G>A (p.Glu600=)
c.1728G>A (p.Glu576=)
c.1662G>A (p.Glu554=)
c.1023G>A (p.Glu341=)
c.1641G>A (p.Glu547=)
9g.137776725G>CCA375776313EHMT1c.1899G>C (p.Glu633Asp)
c.1785G>C (p.Glu595Asp)
c.1806G>C (p.Glu602Asp)
c.1939G>C (n.1939G>C)
c.1526G>C
c.1068G>C (p.Glu356Asp)
c.*1634G>C (n.*1634G>C)
c.756G>C (p.Glu252Asp)
c.447G>C (p.Glu149Asp)
n.1724C>G
c.1890G>C (p.Glu630Asp)
c.1881G>C (p.Glu627Asp)
c.1908G>C (p.Glu636Asp)
c.1905G>C (p.Glu635Asp)
c.1887G>C (p.Glu629Asp)
c.1830G>C (p.Glu610Asp)
c.1764G>C (p.Glu588Asp)
c.330G>C (p.Glu110Asp)
c.1743G>C (p.Glu581Asp)
c.1878G>C (p.Glu626Asp)
c.1884G>C (p.Glu628Asp)
c.1800G>C (p.Glu600Asp)
c.1728G>C (p.Glu576Asp)
c.1662G>C (p.Glu554Asp)
c.1023G>C (p.Glu341Asp)
c.1641G>C (p.Glu547Asp)
9g.137776725G>TCA375776316EHMT1c.1899G>T (p.Glu633Asp)
c.1785G>T (p.Glu595Asp)
c.1806G>T (p.Glu602Asp)
c.1939G>T (n.1939G>T)
c.1526G>T
c.1068G>T (p.Glu356Asp)
c.*1634G>T (n.*1634G>T)
c.756G>T (p.Glu252Asp)
c.447G>T (p.Glu149Asp)
n.1724C>A
c.1890G>T (p.Glu630Asp)
c.1881G>T (p.Glu627Asp)
c.1908G>T (p.Glu636Asp)
c.1905G>T (p.Glu635Asp)
c.1887G>T (p.Glu629Asp)
c.1830G>T (p.Glu610Asp)
c.1764G>T (p.Glu588Asp)
c.330G>T (p.Glu110Asp)
c.1743G>T (p.Glu581Asp)
c.1878G>T (p.Glu626Asp)
c.1884G>T (p.Glu628Asp)
c.1800G>T (p.Glu600Asp)
c.1728G>T (p.Glu576Asp)
c.1662G>T (p.Glu554Asp)
c.1023G>T (p.Glu341Asp)
c.1641G>T (p.Glu547Asp)
9g.137776726A=CA1884666497EHMT1c.1900A= (p.Ser634=)
c.1786A= (p.Ser596=)
c.1807A= (p.Ser603=)
c.1940A= (n.1940A=)
c.1527A=
c.1069A= (p.Ser357=)
c.*1635A= (n.*1635A=)
c.757A= (p.Ser253=)
c.448A= (p.Ser150=)
n.1723T=
c.1891A= (p.Ser631=)
c.1882A= (p.Ser628=)
c.1909A= (p.Ser637=)
c.1906A= (p.Ser636=)
c.1888A= (p.Ser630=)
c.1831A= (p.Ser611=)
c.1765A= (p.Ser589=)
c.331A= (p.Ser111=)
c.1744A= (p.Ser582=)
c.1879A= (p.Ser627=)
c.1885A= (p.Ser629=)
c.1801A= (p.Ser601=)
c.1729A= (p.Ser577=)
c.1663A= (p.Ser555=)
c.1024A= (p.Ser342=)
c.1642A= (p.Ser548=)
9g.137776726A>CCA375776326EHMT1c.1900A>C (p.Ser634Arg)
c.1786A>C (p.Ser596Arg)
c.1807A>C (p.Ser603Arg)
c.1940A>C (n.1940A>C)
c.1527A>C
c.1069A>C (p.Ser357Arg)
c.*1635A>C (n.*1635A>C)
c.757A>C (p.Ser253Arg)
c.448A>C (p.Ser150Arg)
n.1723T>G
c.1891A>C (p.Ser631Arg)
c.1882A>C (p.Ser628Arg)
c.1909A>C (p.Ser637Arg)
c.1906A>C (p.Ser636Arg)
c.1888A>C (p.Ser630Arg)
c.1831A>C (p.Ser611Arg)
c.1765A>C (p.Ser589Arg)
c.331A>C (p.Ser111Arg)
c.1744A>C (p.Ser582Arg)
c.1879A>C (p.Ser627Arg)
c.1885A>C (p.Ser629Arg)
c.1801A>C (p.Ser601Arg)
c.1729A>C (p.Ser577Arg)
c.1663A>C (p.Ser555Arg)
c.1024A>C (p.Ser342Arg)
c.1642A>C (p.Ser548Arg)
9g.137776726A>GCA375776323EHMT1c.1900A>G (p.Ser634Gly)
c.1786A>G (p.Ser596Gly)
c.1807A>G (p.Ser603Gly)
c.1940A>G (n.1940A>G)
c.1527A>G
c.1069A>G (p.Ser357Gly)
c.*1635A>G (n.*1635A>G)
c.757A>G (p.Ser253Gly)
c.448A>G (p.Ser150Gly)
n.1723T>C
c.1891A>G (p.Ser631Gly)
c.1882A>G (p.Ser628Gly)
c.1909A>G (p.Ser637Gly)
c.1906A>G (p.Ser636Gly)
c.1888A>G (p.Ser630Gly)
c.1831A>G (p.Ser611Gly)
c.1765A>G (p.Ser589Gly)
c.331A>G (p.Ser111Gly)
c.1744A>G (p.Ser582Gly)
c.1879A>G (p.Ser627Gly)
c.1885A>G (p.Ser629Gly)
c.1801A>G (p.Ser601Gly)
c.1729A>G (p.Ser577Gly)
c.1663A>G (p.Ser555Gly)
c.1024A>G (p.Ser342Gly)
c.1642A>G (p.Ser548Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.137776726A>TCA375776320EHMT1c.1900A>T (p.Ser634Cys)
c.1786A>T (p.Ser596Cys)
c.1807A>T (p.Ser603Cys)
c.1940A>T (n.1940A>T)
c.1527A>T
c.1069A>T (p.Ser357Cys)
c.*1635A>T (n.*1635A>T)
c.757A>T (p.Ser253Cys)
c.448A>T (p.Ser150Cys)
n.1723T>A
c.1891A>T (p.Ser631Cys)
c.1882A>T (p.Ser628Cys)
c.1909A>T (p.Ser637Cys)
c.1906A>T (p.Ser636Cys)
c.1888A>T (p.Ser630Cys)
c.1831A>T (p.Ser611Cys)
c.1765A>T (p.Ser589Cys)
c.331A>T (p.Ser111Cys)
c.1744A>T (p.Ser582Cys)
c.1879A>T (p.Ser627Cys)
c.1885A>T (p.Ser629Cys)
c.1801A>T (p.Ser601Cys)
c.1729A>T (p.Ser577Cys)
c.1663A>T (p.Ser555Cys)
c.1024A>T (p.Ser342Cys)
c.1642A>T (p.Ser548Cys)
9g.137776727G>ACA375776330EHMT1c.1901G>A (p.Ser634Asn)
c.1787G>A (p.Ser596Asn)
c.1808G>A (p.Ser603Asn)
c.1941G>A (n.1941G>A)
c.1528G>A
c.1070G>A (p.Ser357Asn)
c.*1636G>A (n.*1636G>A)
c.758G>A (p.Ser253Asn)
c.449G>A (p.Ser150Asn)
n.1722C>T
c.1892G>A (p.Ser631Asn)
c.1883G>A (p.Ser628Asn)
c.1910G>A (p.Ser637Asn)
c.1907G>A (p.Ser636Asn)
c.1889G>A (p.Ser630Asn)
c.1832G>A (p.Ser611Asn)
c.1766G>A (p.Ser589Asn)
c.332G>A (p.Ser111Asn)
c.1745G>A (p.Ser582Asn)
c.1880G>A (p.Ser627Asn)
c.1886G>A (p.Ser629Asn)
c.1802G>A (p.Ser601Asn)
c.1730G>A (p.Ser577Asn)
c.1664G>A (p.Ser555Asn)
c.1025G>A (p.Ser342Asn)
c.1643G>A (p.Ser548Asn)
9g.137776727G>CCA375776336EHMT1c.1901G>C (p.Ser634Thr)
c.1787G>C (p.Ser596Thr)
c.1808G>C (p.Ser603Thr)
c.1941G>C (n.1941G>C)
c.1528G>C
c.1070G>C (p.Ser357Thr)
c.*1636G>C (n.*1636G>C)
c.758G>C (p.Ser253Thr)
c.449G>C (p.Ser150Thr)
n.1722C>G
c.1892G>C (p.Ser631Thr)
c.1883G>C (p.Ser628Thr)
c.1910G>C (p.Ser637Thr)
c.1907G>C (p.Ser636Thr)
c.1889G>C (p.Ser630Thr)
c.1832G>C (p.Ser611Thr)
c.1766G>C (p.Ser589Thr)
c.332G>C (p.Ser111Thr)
c.1745G>C (p.Ser582Thr)
c.1880G>C (p.Ser627Thr)
c.1886G>C (p.Ser629Thr)
c.1802G>C (p.Ser601Thr)
c.1730G>C (p.Ser577Thr)
c.1664G>C (p.Ser555Thr)
c.1025G>C (p.Ser342Thr)
c.1643G>C (p.Ser548Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.137776727G=CA1884666498EHMT1c.1901G= (p.Ser634=)
c.1787G= (p.Ser596=)
c.1808G= (p.Ser603=)
c.1941G= (n.1941G=)
c.1528G=
c.1070G= (p.Ser357=)
c.*1636G= (n.*1636G=)
c.758G= (p.Ser253=)
c.449G= (p.Ser150=)
n.1722C=
c.1892G= (p.Ser631=)
c.1883G= (p.Ser628=)
c.1910G= (p.Ser637=)
c.1907G= (p.Ser636=)
c.1889G= (p.Ser630=)
c.1832G= (p.Ser611=)
c.1766G= (p.Ser589=)
c.332G= (p.Ser111=)
c.1745G= (p.Ser582=)
c.1880G= (p.Ser627=)
c.1886G= (p.Ser629=)
c.1802G= (p.Ser601=)
c.1730G= (p.Ser577=)
c.1664G= (p.Ser555=)
c.1025G= (p.Ser342=)
c.1643G= (p.Ser548=)
9g.137776727G>TCA375776334EHMT1c.1901G>T (p.Ser634Ile)
c.1787G>T (p.Ser596Ile)
c.1808G>T (p.Ser603Ile)
c.1941G>T (n.1941G>T)
c.1528G>T
c.1070G>T (p.Ser357Ile)
c.*1636G>T (n.*1636G>T)
c.758G>T (p.Ser253Ile)
c.449G>T (p.Ser150Ile)
n.1722C>A
c.1892G>T (p.Ser631Ile)
c.1883G>T (p.Ser628Ile)
c.1910G>T (p.Ser637Ile)
c.1907G>T (p.Ser636Ile)
c.1889G>T (p.Ser630Ile)
c.1832G>T (p.Ser611Ile)
c.1766G>T (p.Ser589Ile)
c.332G>T (p.Ser111Ile)
c.1745G>T (p.Ser582Ile)
c.1880G>T (p.Ser627Ile)
c.1886G>T (p.Ser629Ile)
c.1802G>T (p.Ser601Ile)
c.1730G>T (p.Ser577Ile)
c.1664G>T (p.Ser555Ile)
c.1025G>T (p.Ser342Ile)
c.1643G>T (p.Ser548Ile)
 ClinVar dbSNP
9g.137776728C>ACA375776338EHMT1c.1902C>A (p.Ser634Arg)
c.1788C>A (p.Ser596Arg)
c.1809C>A (p.Ser603Arg)
c.1942C>A (n.1942C>A)
c.1529C>A
c.1071C>A (p.Ser357Arg)
c.*1637C>A (n.*1637C>A)
c.759C>A (p.Ser253Arg)
c.450C>A (p.Ser150Arg)
n.1721G>T
c.1893C>A (p.Ser631Arg)
c.1884C>A (p.Ser628Arg)
c.1911C>A (p.Ser637Arg)
c.1908C>A (p.Ser636Arg)
c.1890C>A (p.Ser630Arg)
c.1833C>A (p.Ser611Arg)
c.1767C>A (p.Ser589Arg)
c.333C>A (p.Ser111Arg)
c.1746C>A (p.Ser582Arg)
c.1881C>A (p.Ser627Arg)
c.1887C>A (p.Ser629Arg)
c.1803C>A (p.Ser601Arg)
c.1731C>A (p.Ser577Arg)
c.1665C>A (p.Ser555Arg)
c.1026C>A (p.Ser342Arg)
c.1644C>A (p.Ser548Arg)
9g.137776728C>GCA375776342EHMT1c.1902C>G (p.Ser634Arg)
c.1788C>G (p.Ser596Arg)
c.1809C>G (p.Ser603Arg)
c.1942C>G (n.1942C>G)
c.1529C>G
c.1071C>G (p.Ser357Arg)
c.*1637C>G (n.*1637C>G)
c.759C>G (p.Ser253Arg)
c.450C>G (p.Ser150Arg)
n.1721G>C
c.1893C>G (p.Ser631Arg)
c.1884C>G (p.Ser628Arg)
c.1911C>G (p.Ser637Arg)
c.1908C>G (p.Ser636Arg)
c.1890C>G (p.Ser630Arg)
c.1833C>G (p.Ser611Arg)
c.1767C>G (p.Ser589Arg)
c.333C>G (p.Ser111Arg)
c.1746C>G (p.Ser582Arg)
c.1881C>G (p.Ser627Arg)
c.1887C>G (p.Ser629Arg)
c.1803C>G (p.Ser601Arg)
c.1731C>G (p.Ser577Arg)
c.1665C>G (p.Ser555Arg)
c.1026C>G (p.Ser342Arg)
c.1644C>G (p.Ser548Arg)
9g.137776728C>TCA467874089EHMT1c.1902C>T (p.Ser634=)
c.1788C>T (p.Ser596=)
c.1809C>T (p.Ser603=)
c.1942C>T (n.1942C>T)
c.1529C>T
c.1071C>T (p.Ser357=)
c.*1637C>T (n.*1637C>T)
c.759C>T (p.Ser253=)
c.450C>T (p.Ser150=)
n.1721G>A
c.1893C>T (p.Ser631=)
c.1884C>T (p.Ser628=)
c.1911C>T (p.Ser637=)
c.1908C>T (p.Ser636=)
c.1890C>T (p.Ser630=)
c.1833C>T (p.Ser611=)
c.1767C>T (p.Ser589=)
c.333C>T (p.Ser111=)
c.1746C>T (p.Ser582=)
c.1881C>T (p.Ser627=)
c.1887C>T (p.Ser629=)
c.1803C>T (p.Ser601=)
c.1731C>T (p.Ser577=)
c.1665C>T (p.Ser555=)
c.1026C>T (p.Ser342=)
c.1644C>T (p.Ser548=)
9g.137776729T>ACA375776344EHMT1c.1903T>A (p.Ser635Thr)
c.1789T>A (p.Ser597Thr)
c.1810T>A (p.Ser604Thr)
c.1943T>A (n.1943T>A)
c.1530T>A
c.1072T>A (p.Ser358Thr)
c.*1638T>A (n.*1638T>A)
c.760T>A (p.Ser254Thr)
c.451T>A (p.Ser151Thr)
n.1720A>T
c.1894T>A (p.Ser632Thr)
c.1885T>A (p.Ser629Thr)
c.1912T>A (p.Ser638Thr)
c.1909T>A (p.Ser637Thr)
c.1891T>A (p.Ser631Thr)
c.1834T>A (p.Ser612Thr)
c.1768T>A (p.Ser590Thr)
c.334T>A (p.Ser112Thr)
c.1747T>A (p.Ser583Thr)
c.1882T>A (p.Ser628Thr)
c.1888T>A (p.Ser630Thr)
c.1804T>A (p.Ser602Thr)
c.1732T>A (p.Ser578Thr)
c.1666T>A (p.Ser556Thr)
c.1027T>A (p.Ser343Thr)
c.1645T>A (p.Ser549Thr)
 gnomAD v4
9g.137776729T>CCA375776347EHMT1c.1903T>C (p.Ser635Pro)
c.1789T>C (p.Ser597Pro)
c.1810T>C (p.Ser604Pro)
c.1943T>C (n.1943T>C)
c.1530T>C
c.1072T>C (p.Ser358Pro)
c.*1638T>C (n.*1638T>C)
c.760T>C (p.Ser254Pro)
c.451T>C (p.Ser151Pro)
n.1720A>G
c.1894T>C (p.Ser632Pro)
c.1885T>C (p.Ser629Pro)
c.1912T>C (p.Ser638Pro)
c.1909T>C (p.Ser637Pro)
c.1891T>C (p.Ser631Pro)
c.1834T>C (p.Ser612Pro)
c.1768T>C (p.Ser590Pro)
c.334T>C (p.Ser112Pro)
c.1747T>C (p.Ser583Pro)
c.1882T>C (p.Ser628Pro)
c.1888T>C (p.Ser630Pro)
c.1804T>C (p.Ser602Pro)
c.1732T>C (p.Ser578Pro)
c.1666T>C (p.Ser556Pro)
c.1027T>C (p.Ser343Pro)
c.1645T>C (p.Ser549Pro)
9g.137776729T>GCA375776350EHMT1c.1903T>G (p.Ser635Ala)
c.1789T>G (p.Ser597Ala)
c.1810T>G (p.Ser604Ala)
c.1943T>G (n.1943T>G)
c.1530T>G
c.1072T>G (p.Ser358Ala)
c.*1638T>G (n.*1638T>G)
c.760T>G (p.Ser254Ala)
c.451T>G (p.Ser151Ala)
n.1720A>C
c.1894T>G (p.Ser632Ala)
c.1885T>G (p.Ser629Ala)
c.1912T>G (p.Ser638Ala)
c.1909T>G (p.Ser637Ala)
c.1891T>G (p.Ser631Ala)
c.1834T>G (p.Ser612Ala)
c.1768T>G (p.Ser590Ala)
c.334T>G (p.Ser112Ala)
c.1747T>G (p.Ser583Ala)
c.1882T>G (p.Ser628Ala)
c.1888T>G (p.Ser630Ala)
c.1804T>G (p.Ser602Ala)
c.1732T>G (p.Ser578Ala)
c.1666T>G (p.Ser556Ala)
c.1027T>G (p.Ser343Ala)
c.1645T>G (p.Ser549Ala)
9g.137776730C>ACA375776353EHMT1c.1904C>A (p.Ser635Tyr)
c.1790C>A (p.Ser597Tyr)
c.1811C>A (p.Ser604Tyr)
c.1944C>A (n.1944C>A)
c.1531C>A
c.1073C>A (p.Ser358Tyr)
c.*1639C>A (n.*1639C>A)
c.761C>A (p.Ser254Tyr)
c.452C>A (p.Ser151Tyr)
n.1719G>T
c.1895C>A (p.Ser632Tyr)
c.1886C>A (p.Ser629Tyr)
c.1913C>A (p.Ser638Tyr)
c.1910C>A (p.Ser637Tyr)
c.1892C>A (p.Ser631Tyr)
c.1835C>A (p.Ser612Tyr)
c.1769C>A (p.Ser590Tyr)
c.335C>A (p.Ser112Tyr)
c.1748C>A (p.Ser583Tyr)
c.1883C>A (p.Ser628Tyr)
c.1889C>A (p.Ser630Tyr)
c.1805C>A (p.Ser602Tyr)
c.1733C>A (p.Ser578Tyr)
c.1667C>A (p.Ser556Tyr)
c.1028C>A (p.Ser343Tyr)
c.1646C>A (p.Ser549Tyr)
9g.137776730C>GCA375776355EHMT1c.1904C>G (p.Ser635Cys)
c.1790C>G (p.Ser597Cys)
c.1811C>G (p.Ser604Cys)
c.1944C>G (n.1944C>G)
c.1531C>G
c.1073C>G (p.Ser358Cys)
c.*1639C>G (n.*1639C>G)
c.761C>G (p.Ser254Cys)
c.452C>G (p.Ser151Cys)
n.1719G>C
c.1895C>G (p.Ser632Cys)
c.1886C>G (p.Ser629Cys)
c.1913C>G (p.Ser638Cys)
c.1910C>G (p.Ser637Cys)
c.1892C>G (p.Ser631Cys)
c.1835C>G (p.Ser612Cys)
c.1769C>G (p.Ser590Cys)
c.335C>G (p.Ser112Cys)
c.1748C>G (p.Ser583Cys)
c.1883C>G (p.Ser628Cys)
c.1889C>G (p.Ser630Cys)
c.1805C>G (p.Ser602Cys)
c.1733C>G (p.Ser578Cys)
c.1667C>G (p.Ser556Cys)
c.1028C>G (p.Ser343Cys)
c.1646C>G (p.Ser549Cys)
9g.137776730C>TCA375776359EHMT1c.1904C>T (p.Ser635Phe)
c.1790C>T (p.Ser597Phe)
c.1811C>T (p.Ser604Phe)
c.1944C>T (n.1944C>T)
c.1531C>T
c.1073C>T (p.Ser358Phe)
c.*1639C>T (n.*1639C>T)
c.761C>T (p.Ser254Phe)
c.452C>T (p.Ser151Phe)
n.1719G>A
c.1895C>T (p.Ser632Phe)
c.1886C>T (p.Ser629Phe)
c.1913C>T (p.Ser638Phe)
c.1910C>T (p.Ser637Phe)
c.1892C>T (p.Ser631Phe)
c.1835C>T (p.Ser612Phe)
c.1769C>T (p.Ser590Phe)
c.335C>T (p.Ser112Phe)
c.1748C>T (p.Ser583Phe)
c.1883C>T (p.Ser628Phe)
c.1889C>T (p.Ser630Phe)
c.1805C>T (p.Ser602Phe)
c.1733C>T (p.Ser578Phe)
c.1667C>T (p.Ser556Phe)
c.1028C>T (p.Ser343Phe)
c.1646C>T (p.Ser549Phe)
9g.137776731C>ACA467874090EHMT1c.1905C>A (p.Ser635=)
c.1791C>A (p.Ser597=)
c.1812C>A (p.Ser604=)
c.1945C>A (n.1945C>A)
c.1532C>A
c.1074C>A (p.Ser358=)
c.*1640C>A (n.*1640C>A)
c.762C>A (p.Ser254=)
c.453C>A (p.Ser151=)
n.1718G>T
c.1896C>A (p.Ser632=)
c.1887C>A (p.Ser629=)
c.1914C>A (p.Ser638=)
c.1911C>A (p.Ser637=)
c.1893C>A (p.Ser631=)
c.1836C>A (p.Ser612=)
c.1770C>A (p.Ser590=)
c.336C>A (p.Ser112=)
c.1749C>A (p.Ser583=)
c.1884C>A (p.Ser628=)
c.1890C>A (p.Ser630=)
c.1806C>A (p.Ser602=)
c.1734C>A (p.Ser578=)
c.1668C>A (p.Ser556=)
c.1029C>A (p.Ser343=)
c.1647C>A (p.Ser549=)
9g.137776731C>GCA467874091EHMT1c.1905C>G (p.Ser635=)
c.1791C>G (p.Ser597=)
c.1812C>G (p.Ser604=)
c.1945C>G (n.1945C>G)
c.1532C>G
c.1074C>G (p.Ser358=)
c.*1640C>G (n.*1640C>G)
c.762C>G (p.Ser254=)
c.453C>G (p.Ser151=)
n.1718G>C
c.1896C>G (p.Ser632=)
c.1887C>G (p.Ser629=)
c.1914C>G (p.Ser638=)
c.1911C>G (p.Ser637=)
c.1893C>G (p.Ser631=)
c.1836C>G (p.Ser612=)
c.1770C>G (p.Ser590=)
c.336C>G (p.Ser112=)
c.1749C>G (p.Ser583=)
c.1884C>G (p.Ser628=)
c.1890C>G (p.Ser630=)
c.1806C>G (p.Ser602=)
c.1734C>G (p.Ser578=)
c.1668C>G (p.Ser556=)
c.1029C>G (p.Ser343=)
c.1647C>G (p.Ser549=)
9g.137776731C>TCA467874092EHMT1c.1905C>T (p.Ser635=)
c.1791C>T (p.Ser597=)
c.1812C>T (p.Ser604=)
c.1945C>T (n.1945C>T)
c.1532C>T
c.1074C>T (p.Ser358=)
c.*1640C>T (n.*1640C>T)
c.762C>T (p.Ser254=)
c.453C>T (p.Ser151=)
n.1718G>A
c.1896C>T (p.Ser632=)
c.1887C>T (p.Ser629=)
c.1914C>T (p.Ser638=)
c.1911C>T (p.Ser637=)
c.1893C>T (p.Ser631=)
c.1836C>T (p.Ser612=)
c.1770C>T (p.Ser590=)
c.336C>T (p.Ser112=)
c.1749C>T (p.Ser583=)
c.1884C>T (p.Ser628=)
c.1890C>T (p.Ser630=)
c.1806C>T (p.Ser602=)
c.1734C>T (p.Ser578=)
c.1668C>T (p.Ser556=)
c.1029C>T (p.Ser343=)
c.1647C>T (p.Ser549=)
 gnomAD v4
9g.137776732A>CCA375776363EHMT1c.1906A>C (p.Lys636Gln)
c.1792A>C (p.Lys598Gln)
c.1813A>C (p.Lys605Gln)
c.1946A>C (n.1946A>C)
c.1533A>C
c.1075A>C (p.Lys359Gln)
c.*1641A>C (n.*1641A>C)
c.763A>C (p.Lys255Gln)
c.454A>C (p.Lys152Gln)
n.1717T>G
c.1897A>C (p.Lys633Gln)
c.1888A>C (p.Lys630Gln)
c.1915A>C (p.Lys639Gln)
c.1912A>C (p.Lys638Gln)
c.1894A>C (p.Lys632Gln)
c.1837A>C (p.Lys613Gln)
c.1771A>C (p.Lys591Gln)
c.337A>C (p.Lys113Gln)
c.1750A>C (p.Lys584Gln)
c.1885A>C (p.Lys629Gln)
c.1891A>C (p.Lys631Gln)
c.1807A>C (p.Lys603Gln)
c.1735A>C (p.Lys579Gln)
c.1669A>C (p.Lys557Gln)
c.1030A>C (p.Lys344Gln)
c.1648A>C (p.Lys550Gln)
 gnomAD v4
9g.137776732A>GCA375776366EHMT1c.1906A>G (p.Lys636Glu)
c.1792A>G (p.Lys598Glu)
c.1813A>G (p.Lys605Glu)
c.1946A>G (n.1946A>G)
c.1533A>G
c.1075A>G (p.Lys359Glu)
c.*1641A>G (n.*1641A>G)
c.763A>G (p.Lys255Glu)
c.454A>G (p.Lys152Glu)
n.1717T>C
c.1897A>G (p.Lys633Glu)
c.1888A>G (p.Lys630Glu)
c.1915A>G (p.Lys639Glu)
c.1912A>G (p.Lys638Glu)
c.1894A>G (p.Lys632Glu)
c.1837A>G (p.Lys613Glu)
c.1771A>G (p.Lys591Glu)
c.337A>G (p.Lys113Glu)
c.1750A>G (p.Lys584Glu)
c.1885A>G (p.Lys629Glu)
c.1891A>G (p.Lys631Glu)
c.1807A>G (p.Lys603Glu)
c.1735A>G (p.Lys579Glu)
c.1669A>G (p.Lys557Glu)
c.1030A>G (p.Lys344Glu)
c.1648A>G (p.Lys550Glu)
9g.137776732A>TCA375776369EHMT1c.1906A>T (p.Lys636Ter)
c.1792A>T (p.Lys598Ter)
c.1813A>T (p.Lys605Ter)
c.1946A>T (n.1946A>T)
c.1533A>T
c.1075A>T (p.Lys359Ter)
c.*1641A>T (n.*1641A>T)
c.763A>T (p.Lys255Ter)
c.454A>T (p.Lys152Ter)
n.1717T>A
c.1897A>T (p.Lys633Ter)
c.1888A>T (p.Lys630Ter)
c.1915A>T (p.Lys639Ter)
c.1912A>T (p.Lys638Ter)
c.1894A>T (p.Lys632Ter)
c.1837A>T (p.Lys613Ter)
c.1771A>T (p.Lys591Ter)
c.337A>T (p.Lys113Ter)
c.1750A>T (p.Lys584Ter)
c.1885A>T (p.Lys629Ter)
c.1891A>T (p.Lys631Ter)
c.1807A>T (p.Lys603Ter)
c.1735A>T (p.Lys579Ter)
c.1669A>T (p.Lys557Ter)
c.1030A>T (p.Lys344Ter)
c.1648A>T (p.Lys550Ter)
9g.137776733A>CCA375776377EHMT1c.1907A>C (p.Lys636Thr)
c.1793A>C (p.Lys598Thr)
c.1814A>C (p.Lys605Thr)
c.1947A>C (n.1947A>C)
c.1534A>C
c.1076A>C (p.Lys359Thr)
c.*1642A>C (n.*1642A>C)
c.764A>C (p.Lys255Thr)
c.455A>C (p.Lys152Thr)
n.1716T>G
c.1898A>C (p.Lys633Thr)
c.1889A>C (p.Lys630Thr)
c.1916A>C (p.Lys639Thr)
c.1913A>C (p.Lys638Thr)
c.1895A>C (p.Lys632Thr)
c.1838A>C (p.Lys613Thr)
c.1772A>C (p.Lys591Thr)
c.338A>C (p.Lys113Thr)
c.1751A>C (p.Lys584Thr)
c.1886A>C (p.Lys629Thr)
c.1892A>C (p.Lys631Thr)
c.1808A>C (p.Lys603Thr)
c.1736A>C (p.Lys579Thr)
c.1670A>C (p.Lys557Thr)
c.1031A>C (p.Lys344Thr)
c.1649A>C (p.Lys550Thr)
9g.137776733A>GCA375776371EHMT1c.1907A>G (p.Lys636Arg)
c.1793A>G (p.Lys598Arg)
c.1814A>G (p.Lys605Arg)
c.1947A>G (n.1947A>G)
c.1534A>G
c.1076A>G (p.Lys359Arg)
c.*1642A>G (n.*1642A>G)
c.764A>G (p.Lys255Arg)
c.455A>G (p.Lys152Arg)
n.1716T>C
c.1898A>G (p.Lys633Arg)
c.1889A>G (p.Lys630Arg)
c.1916A>G (p.Lys639Arg)
c.1913A>G (p.Lys638Arg)
c.1895A>G (p.Lys632Arg)
c.1838A>G (p.Lys613Arg)
c.1772A>G (p.Lys591Arg)
c.338A>G (p.Lys113Arg)
c.1751A>G (p.Lys584Arg)
c.1886A>G (p.Lys629Arg)
c.1892A>G (p.Lys631Arg)
c.1808A>G (p.Lys603Arg)
c.1736A>G (p.Lys579Arg)
c.1670A>G (p.Lys557Arg)
c.1031A>G (p.Lys344Arg)
c.1649A>G (p.Lys550Arg)
9g.137776733A>TCA375776376EHMT1c.1907A>T (p.Lys636Met)
c.1793A>T (p.Lys598Met)
c.1814A>T (p.Lys605Met)
c.1947A>T (n.1947A>T)
c.1534A>T
c.1076A>T (p.Lys359Met)
c.*1642A>T (n.*1642A>T)
c.764A>T (p.Lys255Met)
c.455A>T (p.Lys152Met)
n.1716T>A
c.1898A>T (p.Lys633Met)
c.1889A>T (p.Lys630Met)
c.1916A>T (p.Lys639Met)
c.1913A>T (p.Lys638Met)
c.1895A>T (p.Lys632Met)
c.1838A>T (p.Lys613Met)
c.1772A>T (p.Lys591Met)
c.338A>T (p.Lys113Met)
c.1751A>T (p.Lys584Met)
c.1886A>T (p.Lys629Met)
c.1892A>T (p.Lys631Met)
c.1808A>T (p.Lys603Met)
c.1736A>T (p.Lys579Met)
c.1670A>T (p.Lys557Met)
c.1031A>T (p.Lys344Met)
c.1649A>T (p.Lys550Met)
9g.137776734G>ACA467874093EHMT1c.1908G>A (p.Lys636=)
c.1794G>A (p.Lys598=)
c.1815G>A (p.Lys605=)
c.1948G>A (n.1948G>A)
c.1535G>A
c.1077G>A (p.Lys359=)
c.*1643G>A (n.*1643G>A)
c.765G>A (p.Lys255=)
c.456G>A (p.Lys152=)
n.1715C>T
c.1899G>A (p.Lys633=)
c.1890G>A (p.Lys630=)
c.1917G>A (p.Lys639=)
c.1914G>A (p.Lys638=)
c.1896G>A (p.Lys632=)
c.1839G>A (p.Lys613=)
c.1773G>A (p.Lys591=)
c.339G>A (p.Lys113=)
c.1752G>A (p.Lys584=)
c.1887G>A (p.Lys629=)
c.1893G>A (p.Lys631=)
c.1809G>A (p.Lys603=)
c.1737G>A (p.Lys579=)
c.1671G>A (p.Lys557=)
c.1032G>A (p.Lys344=)
c.1650G>A (p.Lys550=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137776734G>CCA375776382EHMT1c.1908G>C (p.Lys636Asn)
c.1794G>C (p.Lys598Asn)
c.1815G>C (p.Lys605Asn)
c.1948G>C (n.1948G>C)
c.1535G>C
c.1077G>C (p.Lys359Asn)
c.*1643G>C (n.*1643G>C)
c.765G>C (p.Lys255Asn)
c.456G>C (p.Lys152Asn)
n.1715C>G
c.1899G>C (p.Lys633Asn)
c.1890G>C (p.Lys630Asn)
c.1917G>C (p.Lys639Asn)
c.1914G>C (p.Lys638Asn)
c.1896G>C (p.Lys632Asn)
c.1839G>C (p.Lys613Asn)
c.1773G>C (p.Lys591Asn)
c.339G>C (p.Lys113Asn)
c.1752G>C (p.Lys584Asn)
c.1887G>C (p.Lys629Asn)
c.1893G>C (p.Lys631Asn)
c.1809G>C (p.Lys603Asn)
c.1737G>C (p.Lys579Asn)
c.1671G>C (p.Lys557Asn)
c.1032G>C (p.Lys344Asn)
c.1650G>C (p.Lys550Asn)
9g.137776734G=CA1884666499EHMT1c.1908G= (p.Lys636=)
c.1794G= (p.Lys598=)
c.1815G= (p.Lys605=)
c.1948G= (n.1948G=)
c.1535G=
c.1077G= (p.Lys359=)
c.*1643G= (n.*1643G=)
c.765G= (p.Lys255=)
c.456G= (p.Lys152=)
n.1715C=
c.1899G= (p.Lys633=)
c.1890G= (p.Lys630=)
c.1917G= (p.Lys639=)
c.1914G= (p.Lys638=)
c.1896G= (p.Lys632=)
c.1839G= (p.Lys613=)
c.1773G= (p.Lys591=)
c.339G= (p.Lys113=)
c.1752G= (p.Lys584=)
c.1887G= (p.Lys629=)
c.1893G= (p.Lys631=)
c.1809G= (p.Lys603=)
c.1737G= (p.Lys579=)
c.1671G= (p.Lys557=)
c.1032G= (p.Lys344=)
c.1650G= (p.Lys550=)
9g.137776734G>TCA375776385EHMT1c.1908G>T (p.Lys636Asn)
c.1794G>T (p.Lys598Asn)
c.1815G>T (p.Lys605Asn)
c.1948G>T (n.1948G>T)
c.1535G>T
c.1077G>T (p.Lys359Asn)
c.*1643G>T (n.*1643G>T)
c.765G>T (p.Lys255Asn)
c.456G>T (p.Lys152Asn)
n.1715C>A
c.1899G>T (p.Lys633Asn)
c.1890G>T (p.Lys630Asn)
c.1917G>T (p.Lys639Asn)
c.1914G>T (p.Lys638Asn)
c.1896G>T (p.Lys632Asn)
c.1839G>T (p.Lys613Asn)
c.1773G>T (p.Lys591Asn)
c.339G>T (p.Lys113Asn)
c.1752G>T (p.Lys584Asn)
c.1887G>T (p.Lys629Asn)
c.1893G>T (p.Lys631Asn)
c.1809G>T (p.Lys603Asn)
c.1737G>T (p.Lys579Asn)
c.1671G>T (p.Lys557Asn)
c.1032G>T (p.Lys344Asn)
c.1650G>T (p.Lys550Asn)
9g.137776735G>ACA375776388EHMT1c.1909G>A (p.Ala637Thr)
c.1795G>A (p.Ala599Thr)
c.1816G>A (p.Ala606Thr)
c.1949G>A (n.1949G>A)
c.1536G>A
c.1078G>A (p.Ala360Thr)
c.*1644G>A (n.*1644G>A)
c.766G>A (p.Ala256Thr)
c.457G>A (p.Ala153Thr)
n.1714C>T
c.1900G>A (p.Ala634Thr)
c.1891G>A (p.Ala631Thr)
c.1918G>A (p.Ala640Thr)
c.1915G>A (p.Ala639Thr)
c.1897G>A (p.Ala633Thr)
c.1840G>A (p.Ala614Thr)
c.1774G>A (p.Ala592Thr)
c.340G>A (p.Ala114Thr)
c.1753G>A (p.Ala585Thr)
c.1888G>A (p.Ala630Thr)
c.1894G>A (p.Ala632Thr)
c.1810G>A (p.Ala604Thr)
c.1738G>A (p.Ala580Thr)
c.1672G>A (p.Ala558Thr)
c.1033G>A (p.Ala345Thr)
c.1651G>A (p.Ala551Thr)
9g.137776735G>CCA375776391EHMT1c.1909G>C (p.Ala637Pro)
c.1795G>C (p.Ala599Pro)
c.1816G>C (p.Ala606Pro)
c.1949G>C (n.1949G>C)
c.1536G>C
c.1078G>C (p.Ala360Pro)
c.*1644G>C (n.*1644G>C)
c.766G>C (p.Ala256Pro)
c.457G>C (p.Ala153Pro)
n.1714C>G
c.1900G>C (p.Ala634Pro)
c.1891G>C (p.Ala631Pro)
c.1918G>C (p.Ala640Pro)
c.1915G>C (p.Ala639Pro)
c.1897G>C (p.Ala633Pro)
c.1840G>C (p.Ala614Pro)
c.1774G>C (p.Ala592Pro)
c.340G>C (p.Ala114Pro)
c.1753G>C (p.Ala585Pro)
c.1888G>C (p.Ala630Pro)
c.1894G>C (p.Ala632Pro)
c.1810G>C (p.Ala604Pro)
c.1738G>C (p.Ala580Pro)
c.1672G>C (p.Ala558Pro)
c.1033G>C (p.Ala345Pro)
c.1651G>C (p.Ala551Pro)
9g.137776735G>TCA375776392EHMT1c.1909G>T (p.Ala637Ser)
c.1795G>T (p.Ala599Ser)
c.1816G>T (p.Ala606Ser)
c.1949G>T (n.1949G>T)
c.1536G>T
c.1078G>T (p.Ala360Ser)
c.*1644G>T (n.*1644G>T)
c.766G>T (p.Ala256Ser)
c.457G>T (p.Ala153Ser)
n.1714C>A
c.1900G>T (p.Ala634Ser)
c.1891G>T (p.Ala631Ser)
c.1918G>T (p.Ala640Ser)
c.1915G>T (p.Ala639Ser)
c.1897G>T (p.Ala633Ser)
c.1840G>T (p.Ala614Ser)
c.1774G>T (p.Ala592Ser)
c.340G>T (p.Ala114Ser)
c.1753G>T (p.Ala585Ser)
c.1888G>T (p.Ala630Ser)
c.1894G>T (p.Ala632Ser)
c.1810G>T (p.Ala604Ser)
c.1738G>T (p.Ala580Ser)
c.1672G>T (p.Ala558Ser)
c.1033G>T (p.Ala345Ser)
c.1651G>T (p.Ala551Ser)
 gnomAD v4
9g.137776736C>ACA375776395EHMT1c.1910C>A (p.Ala637Asp)
c.1796C>A (p.Ala599Asp)
c.1817C>A (p.Ala606Asp)
c.1950C>A (n.1950C>A)
c.1537C>A
c.1079C>A (p.Ala360Asp)
c.*1645C>A (n.*1645C>A)
c.767C>A (p.Ala256Asp)
c.458C>A (p.Ala153Asp)
n.1713G>T
c.1901C>A (p.Ala634Asp)
c.1892C>A (p.Ala631Asp)
c.1919C>A (p.Ala640Asp)
c.1916C>A (p.Ala639Asp)
c.1898C>A (p.Ala633Asp)
c.1841C>A (p.Ala614Asp)
c.1775C>A (p.Ala592Asp)
c.341C>A (p.Ala114Asp)
c.1754C>A (p.Ala585Asp)
c.1889C>A (p.Ala630Asp)
c.1895C>A (p.Ala632Asp)
c.1811C>A (p.Ala604Asp)
c.1739C>A (p.Ala580Asp)
c.1673C>A (p.Ala558Asp)
c.1034C>A (p.Ala345Asp)
c.1652C>A (p.Ala551Asp)
9g.137776736C>GCA375776398EHMT1c.1910C>G (p.Ala637Gly)
c.1796C>G (p.Ala599Gly)
c.1817C>G (p.Ala606Gly)
c.1950C>G (n.1950C>G)
c.1537C>G
c.1079C>G (p.Ala360Gly)
c.*1645C>G (n.*1645C>G)
c.767C>G (p.Ala256Gly)
c.458C>G (p.Ala153Gly)
n.1713G>C
c.1901C>G (p.Ala634Gly)
c.1892C>G (p.Ala631Gly)
c.1919C>G (p.Ala640Gly)
c.1916C>G (p.Ala639Gly)
c.1898C>G (p.Ala633Gly)
c.1841C>G (p.Ala614Gly)
c.1775C>G (p.Ala592Gly)
c.341C>G (p.Ala114Gly)
c.1754C>G (p.Ala585Gly)
c.1889C>G (p.Ala630Gly)
c.1895C>G (p.Ala632Gly)
c.1811C>G (p.Ala604Gly)
c.1739C>G (p.Ala580Gly)
c.1673C>G (p.Ala558Gly)
c.1034C>G (p.Ala345Gly)
c.1652C>G (p.Ala551Gly)
9g.137776736C>TCA375776401EHMT1c.1910C>T (p.Ala637Val)
c.1796C>T (p.Ala599Val)
c.1817C>T (p.Ala606Val)
c.1950C>T (n.1950C>T)
c.1537C>T
c.1079C>T (p.Ala360Val)
c.*1645C>T (n.*1645C>T)
c.767C>T (p.Ala256Val)
c.458C>T (p.Ala153Val)
n.1713G>A
c.1901C>T (p.Ala634Val)
c.1892C>T (p.Ala631Val)
c.1919C>T (p.Ala640Val)
c.1916C>T (p.Ala639Val)
c.1898C>T (p.Ala633Val)
c.1841C>T (p.Ala614Val)
c.1775C>T (p.Ala592Val)
c.341C>T (p.Ala114Val)
c.1754C>T (p.Ala585Val)
c.1889C>T (p.Ala630Val)
c.1895C>T (p.Ala632Val)
c.1811C>T (p.Ala604Val)
c.1739C>T (p.Ala580Val)
c.1673C>T (p.Ala558Val)
c.1034C>T (p.Ala345Val)
c.1652C>T (p.Ala551Val)
9g.137776737C>ACA467874094EHMT1c.1911C>A (p.Ala637=)
c.1797C>A (p.Ala599=)
c.1818C>A (p.Ala606=)
c.1951C>A (n.1951C>A)
c.1538C>A
c.1080C>A (p.Ala360=)
c.*1646C>A (n.*1646C>A)
c.768C>A (p.Ala256=)
c.459C>A (p.Ala153=)
n.1712G>T
c.1902C>A (p.Ala634=)
c.1893C>A (p.Ala631=)
c.1920C>A (p.Ala640=)
c.1917C>A (p.Ala639=)
c.1899C>A (p.Ala633=)
c.1842C>A (p.Ala614=)
c.1776C>A (p.Ala592=)
c.342C>A (p.Ala114=)
c.1755C>A (p.Ala585=)
c.1890C>A (p.Ala630=)
c.1896C>A (p.Ala632=)
c.1812C>A (p.Ala604=)
c.1740C>A (p.Ala580=)
c.1674C>A (p.Ala558=)
c.1035C>A (p.Ala345=)
c.1653C>A (p.Ala551=)
9g.137776737C>GCA467874095EHMT1c.1911C>G (p.Ala637=)
c.1797C>G (p.Ala599=)
c.1818C>G (p.Ala606=)
c.1951C>G (n.1951C>G)
c.1538C>G
c.1080C>G (p.Ala360=)
c.*1646C>G (n.*1646C>G)
c.768C>G (p.Ala256=)
c.459C>G (p.Ala153=)
n.1712G>C
c.1902C>G (p.Ala634=)
c.1893C>G (p.Ala631=)
c.1920C>G (p.Ala640=)
c.1917C>G (p.Ala639=)
c.1899C>G (p.Ala633=)
c.1842C>G (p.Ala614=)
c.1776C>G (p.Ala592=)
c.342C>G (p.Ala114=)
c.1755C>G (p.Ala585=)
c.1890C>G (p.Ala630=)
c.1896C>G (p.Ala632=)
c.1812C>G (p.Ala604=)
c.1740C>G (p.Ala580=)
c.1674C>G (p.Ala558=)
c.1035C>G (p.Ala345=)
c.1653C>G (p.Ala551=)
 ClinVar dbSNP gnomAD v4
9g.137776737C>TCA467874096EHMT1c.1911C>T (p.Ala637=)
c.1797C>T (p.Ala599=)
c.1818C>T (p.Ala606=)
c.1951C>T (n.1951C>T)
c.1538C>T
c.1080C>T (p.Ala360=)
c.*1646C>T (n.*1646C>T)
c.768C>T (p.Ala256=)
c.459C>T (p.Ala153=)
n.1712G>A
c.1902C>T (p.Ala634=)
c.1893C>T (p.Ala631=)
c.1920C>T (p.Ala640=)
c.1917C>T (p.Ala639=)
c.1899C>T (p.Ala633=)
c.1842C>T (p.Ala614=)
c.1776C>T (p.Ala592=)
c.342C>T (p.Ala114=)
c.1755C>T (p.Ala585=)
c.1890C>T (p.Ala630=)
c.1896C>T (p.Ala632=)
c.1812C>T (p.Ala604=)
c.1740C>T (p.Ala580=)
c.1674C>T (p.Ala558=)
c.1035C>T (p.Ala345=)
c.1653C>T (p.Ala551=)
9g.137776738A>CCA375776406EHMT1c.1912A>C (p.Lys638Gln)
c.1798A>C (p.Lys600Gln)
c.1819A>C (p.Lys607Gln)
c.1952A>C (n.1952A>C)
c.1539A>C
c.1081A>C (p.Lys361Gln)
c.*1647A>C (n.*1647A>C)
c.769A>C (p.Lys257Gln)
c.460A>C (p.Lys154Gln)
n.1711T>G
c.1903A>C (p.Lys635Gln)
c.1894A>C (p.Lys632Gln)
c.1921A>C (p.Lys641Gln)
c.1918A>C (p.Lys640Gln)
c.1900A>C (p.Lys634Gln)
c.1843A>C (p.Lys615Gln)
c.1777A>C (p.Lys593Gln)
c.343A>C (p.Lys115Gln)
c.1756A>C (p.Lys586Gln)
c.1891A>C (p.Lys631Gln)
c.1897A>C (p.Lys633Gln)
c.1813A>C (p.Lys605Gln)
c.1741A>C (p.Lys581Gln)
c.1675A>C (p.Lys559Gln)
c.1036A>C (p.Lys346Gln)
c.1654A>C (p.Lys552Gln)
9g.137776738A>GCA375776409EHMT1c.1912A>G (p.Lys638Glu)
c.1798A>G (p.Lys600Glu)
c.1819A>G (p.Lys607Glu)
c.1952A>G (n.1952A>G)
c.1539A>G
c.1081A>G (p.Lys361Glu)
c.*1647A>G (n.*1647A>G)
c.769A>G (p.Lys257Glu)
c.460A>G (p.Lys154Glu)
n.1711T>C
c.1903A>G (p.Lys635Glu)
c.1894A>G (p.Lys632Glu)
c.1921A>G (p.Lys641Glu)
c.1918A>G (p.Lys640Glu)
c.1900A>G (p.Lys634Glu)
c.1843A>G (p.Lys615Glu)
c.1777A>G (p.Lys593Glu)
c.343A>G (p.Lys115Glu)
c.1756A>G (p.Lys586Glu)
c.1891A>G (p.Lys631Glu)
c.1897A>G (p.Lys633Glu)
c.1813A>G (p.Lys605Glu)
c.1741A>G (p.Lys581Glu)
c.1675A>G (p.Lys559Glu)
c.1036A>G (p.Lys346Glu)
c.1654A>G (p.Lys552Glu)
 gnomAD v4
9g.137776738A>TCA375776412EHMT1c.1912A>T (p.Lys638Ter)
c.1798A>T (p.Lys600Ter)
c.1819A>T (p.Lys607Ter)
c.1952A>T (n.1952A>T)
c.1539A>T
c.1081A>T (p.Lys361Ter)
c.*1647A>T (n.*1647A>T)
c.769A>T (p.Lys257Ter)
c.460A>T (p.Lys154Ter)
n.1711T>A
c.1903A>T (p.Lys635Ter)
c.1894A>T (p.Lys632Ter)
c.1921A>T (p.Lys641Ter)
c.1918A>T (p.Lys640Ter)
c.1900A>T (p.Lys634Ter)
c.1843A>T (p.Lys615Ter)
c.1777A>T (p.Lys593Ter)
c.343A>T (p.Lys115Ter)
c.1756A>T (p.Lys586Ter)
c.1891A>T (p.Lys631Ter)
c.1897A>T (p.Lys633Ter)
c.1813A>T (p.Lys605Ter)
c.1741A>T (p.Lys581Ter)
c.1675A>T (p.Lys559Ter)
c.1036A>T (p.Lys346Ter)
c.1654A>T (p.Lys552Ter)
9g.137776739A>CCA375776419EHMT1c.1913A>C (p.Lys638Thr)
c.1799A>C (p.Lys600Thr)
c.1820A>C (p.Lys607Thr)
c.1953A>C (n.1953A>C)
c.1540A>C
c.1082A>C (p.Lys361Thr)
c.*1648A>C (n.*1648A>C)
c.770A>C (p.Lys257Thr)
c.461A>C (p.Lys154Thr)
n.1710T>G
c.1904A>C (p.Lys635Thr)
c.1895A>C (p.Lys632Thr)
c.1922A>C (p.Lys641Thr)
c.1919A>C (p.Lys640Thr)
c.1901A>C (p.Lys634Thr)
c.1844A>C (p.Lys615Thr)
c.1778A>C (p.Lys593Thr)
c.344A>C (p.Lys115Thr)
c.1757A>C (p.Lys586Thr)
c.1892A>C (p.Lys631Thr)
c.1898A>C (p.Lys633Thr)
c.1814A>C (p.Lys605Thr)
c.1742A>C (p.Lys581Thr)
c.1676A>C (p.Lys559Thr)
c.1037A>C (p.Lys346Thr)
c.1655A>C (p.Lys552Thr)
9g.137776739A>GCA375776424EHMT1c.1913A>G (p.Lys638Arg)
c.1799A>G (p.Lys600Arg)
c.1820A>G (p.Lys607Arg)
c.1953A>G (n.1953A>G)
c.1540A>G
c.1082A>G (p.Lys361Arg)
c.*1648A>G (n.*1648A>G)
c.770A>G (p.Lys257Arg)
c.461A>G (p.Lys154Arg)
n.1710T>C
c.1904A>G (p.Lys635Arg)
c.1895A>G (p.Lys632Arg)
c.1922A>G (p.Lys641Arg)
c.1919A>G (p.Lys640Arg)
c.1901A>G (p.Lys634Arg)
c.1844A>G (p.Lys615Arg)
c.1778A>G (p.Lys593Arg)
c.344A>G (p.Lys115Arg)
c.1757A>G (p.Lys586Arg)
c.1892A>G (p.Lys631Arg)
c.1898A>G (p.Lys633Arg)
c.1814A>G (p.Lys605Arg)
c.1742A>G (p.Lys581Arg)
c.1676A>G (p.Lys559Arg)
c.1037A>G (p.Lys346Arg)
c.1655A>G (p.Lys552Arg)
9g.137776739A>TCA375776416EHMT1c.1913A>T (p.Lys638Ile)
c.1799A>T (p.Lys600Ile)
c.1820A>T (p.Lys607Ile)
c.1953A>T (n.1953A>T)
c.1540A>T
c.1082A>T (p.Lys361Ile)
c.*1648A>T (n.*1648A>T)
c.770A>T (p.Lys257Ile)
c.461A>T (p.Lys154Ile)
n.1710T>A
c.1904A>T (p.Lys635Ile)
c.1895A>T (p.Lys632Ile)
c.1922A>T (p.Lys641Ile)
c.1919A>T (p.Lys640Ile)
c.1901A>T (p.Lys634Ile)
c.1844A>T (p.Lys615Ile)
c.1778A>T (p.Lys593Ile)
c.344A>T (p.Lys115Ile)
c.1757A>T (p.Lys586Ile)
c.1892A>T (p.Lys631Ile)
c.1898A>T (p.Lys633Ile)
c.1814A>T (p.Lys605Ile)
c.1742A>T (p.Lys581Ile)
c.1676A>T (p.Lys559Ile)
c.1037A>T (p.Lys346Ile)
c.1655A>T (p.Lys552Ile)
9g.137776740A>CCA375776428EHMT1c.1914A>C (p.Lys638Asn)
c.1800A>C (p.Lys600Asn)
c.1821A>C (p.Lys607Asn)
c.1954A>C (n.1954A>C)
c.1541A>C
c.1083A>C (p.Lys361Asn)
c.*1649A>C (n.*1649A>C)
c.771A>C (p.Lys257Asn)
c.462A>C (p.Lys154Asn)
n.1709T>G
c.1905A>C (p.Lys635Asn)
c.1896A>C (p.Lys632Asn)
c.1923A>C (p.Lys641Asn)
c.1920A>C (p.Lys640Asn)
c.1902A>C (p.Lys634Asn)
c.1845A>C (p.Lys615Asn)
c.1779A>C (p.Lys593Asn)
c.345A>C (p.Lys115Asn)
c.1758A>C (p.Lys586Asn)
c.1893A>C (p.Lys631Asn)
c.1899A>C (p.Lys633Asn)
c.1815A>C (p.Lys605Asn)
c.1743A>C (p.Lys581Asn)
c.1677A>C (p.Lys559Asn)
c.1038A>C (p.Lys346Asn)
c.1656A>C (p.Lys552Asn)
9g.137776740A>GCA467874097EHMT1c.1914A>G (p.Lys638=)
c.1800A>G (p.Lys600=)
c.1821A>G (p.Lys607=)
c.1954A>G (n.1954A>G)
c.1541A>G
c.1083A>G (p.Lys361=)
c.*1649A>G (n.*1649A>G)
c.771A>G (p.Lys257=)
c.462A>G (p.Lys154=)
n.1709T>C
c.1905A>G (p.Lys635=)
c.1896A>G (p.Lys632=)
c.1923A>G (p.Lys641=)
c.1920A>G (p.Lys640=)
c.1902A>G (p.Lys634=)
c.1845A>G (p.Lys615=)
c.1779A>G (p.Lys593=)
c.345A>G (p.Lys115=)
c.1758A>G (p.Lys586=)
c.1893A>G (p.Lys631=)
c.1899A>G (p.Lys633=)
c.1815A>G (p.Lys605=)
c.1743A>G (p.Lys581=)
c.1677A>G (p.Lys559=)
c.1038A>G (p.Lys346=)
c.1656A>G (p.Lys552=)
 gnomAD v4
9g.137776740A>TCA375776432EHMT1c.1914A>T (p.Lys638Asn)
c.1800A>T (p.Lys600Asn)
c.1821A>T (p.Lys607Asn)
c.1954A>T (n.1954A>T)
c.1541A>T
c.1083A>T (p.Lys361Asn)
c.*1649A>T (n.*1649A>T)
c.771A>T (p.Lys257Asn)
c.462A>T (p.Lys154Asn)
n.1709T>A
c.1905A>T (p.Lys635Asn)
c.1896A>T (p.Lys632Asn)
c.1923A>T (p.Lys641Asn)
c.1920A>T (p.Lys640Asn)
c.1902A>T (p.Lys634Asn)
c.1845A>T (p.Lys615Asn)
c.1779A>T (p.Lys593Asn)
c.345A>T (p.Lys115Asn)
c.1758A>T (p.Lys586Asn)
c.1893A>T (p.Lys631Asn)
c.1899A>T (p.Lys633Asn)
c.1815A>T (p.Lys605Asn)
c.1743A>T (p.Lys581Asn)
c.1677A>T (p.Lys559Asn)
c.1038A>T (p.Lys346Asn)
c.1656A>T (p.Lys552Asn)
9g.137776741G>ACA375776434EHMT1c.1915G>A (p.Glu639Lys)
c.1801G>A (p.Glu601Lys)
c.1822G>A (p.Glu608Lys)
c.1955G>A (n.1955G>A)
c.1542G>A
c.1084G>A (p.Glu362Lys)
c.*1650G>A (n.*1650G>A)
c.772G>A (p.Glu258Lys)
c.463G>A (p.Glu155Lys)
n.1708C>T
c.1906G>A (p.Glu636Lys)
c.1897G>A (p.Glu633Lys)
c.1924G>A (p.Glu642Lys)
c.1921G>A (p.Glu641Lys)
c.1903G>A (p.Glu635Lys)
c.1846G>A (p.Glu616Lys)
c.1780G>A (p.Glu594Lys)
c.346G>A (p.Glu116Lys)
c.1759G>A (p.Glu587Lys)
c.1894G>A (p.Glu632Lys)
c.1900G>A (p.Glu634Lys)
c.1816G>A (p.Glu606Lys)
c.1744G>A (p.Glu582Lys)
c.1678G>A (p.Glu560Lys)
c.1039G>A (p.Glu347Lys)
c.1657G>A (p.Glu553Lys)
9g.137776741G>CCA375776435EHMT1c.1915G>C (p.Glu639Gln)
c.1801G>C (p.Glu601Gln)
c.1822G>C (p.Glu608Gln)
c.1955G>C (n.1955G>C)
c.1542G>C
c.1084G>C (p.Glu362Gln)
c.*1650G>C (n.*1650G>C)
c.772G>C (p.Glu258Gln)
c.463G>C (p.Glu155Gln)
n.1708C>G
c.1906G>C (p.Glu636Gln)
c.1897G>C (p.Glu633Gln)
c.1924G>C (p.Glu642Gln)
c.1921G>C (p.Glu641Gln)
c.1903G>C (p.Glu635Gln)
c.1846G>C (p.Glu616Gln)
c.1780G>C (p.Glu594Gln)
c.346G>C (p.Glu116Gln)
c.1759G>C (p.Glu587Gln)
c.1894G>C (p.Glu632Gln)
c.1900G>C (p.Glu634Gln)
c.1816G>C (p.Glu606Gln)
c.1744G>C (p.Glu582Gln)
c.1678G>C (p.Glu560Gln)
c.1039G>C (p.Glu347Gln)
c.1657G>C (p.Glu553Gln)
9g.137776741G>TCA375776438EHMT1c.1915G>T (p.Glu639Ter)
c.1801G>T (p.Glu601Ter)
c.1822G>T (p.Glu608Ter)
c.1955G>T (n.1955G>T)
c.1542G>T
c.1084G>T (p.Glu362Ter)
c.*1650G>T (n.*1650G>T)
c.772G>T (p.Glu258Ter)
c.463G>T (p.Glu155Ter)
n.1708C>A
c.1906G>T (p.Glu636Ter)
c.1897G>T (p.Glu633Ter)
c.1924G>T (p.Glu642Ter)
c.1921G>T (p.Glu641Ter)
c.1903G>T (p.Glu635Ter)
c.1846G>T (p.Glu616Ter)
c.1780G>T (p.Glu594Ter)
c.346G>T (p.Glu116Ter)
c.1759G>T (p.Glu587Ter)
c.1894G>T (p.Glu632Ter)
c.1900G>T (p.Glu634Ter)
c.1816G>T (p.Glu606Ter)
c.1744G>T (p.Glu582Ter)
c.1678G>T (p.Glu560Ter)
c.1039G>T (p.Glu347Ter)
c.1657G>T (p.Glu553Ter)
9g.137776742A=CA1884666500EHMT1c.1916A= (p.Glu639=)
c.1802A= (p.Glu601=)
c.1823A= (p.Glu608=)
c.1956A= (n.1956A=)
c.1543A=
c.1085A= (p.Glu362=)
c.*1651A= (n.*1651A=)
c.773A= (p.Glu258=)
c.464A= (p.Glu155=)
n.1707T=
c.1907A= (p.Glu636=)
c.1898A= (p.Glu633=)
c.1925A= (p.Glu642=)
c.1922A= (p.Glu641=)
c.1904A= (p.Glu635=)
c.1847A= (p.Glu616=)
c.1781A= (p.Glu594=)
c.347A= (p.Glu116=)
c.1760A= (p.Glu587=)
c.1895A= (p.Glu632=)
c.1901A= (p.Glu634=)
c.1817A= (p.Glu606=)
c.1745A= (p.Glu582=)
c.1679A= (p.Glu560=)
c.1040A= (p.Glu347=)
c.1658A= (p.Glu553=)
9g.137776742A>CCA375776452EHMT1c.1916A>C (p.Glu639Ala)
c.1802A>C (p.Glu601Ala)
c.1823A>C (p.Glu608Ala)
c.1956A>C (n.1956A>C)
c.1543A>C
c.1085A>C (p.Glu362Ala)
c.*1651A>C (n.*1651A>C)
c.773A>C (p.Glu258Ala)
c.464A>C (p.Glu155Ala)
n.1707T>G
c.1907A>C (p.Glu636Ala)
c.1898A>C (p.Glu633Ala)
c.1925A>C (p.Glu642Ala)
c.1922A>C (p.Glu641Ala)
c.1904A>C (p.Glu635Ala)
c.1847A>C (p.Glu616Ala)
c.1781A>C (p.Glu594Ala)
c.347A>C (p.Glu116Ala)
c.1760A>C (p.Glu587Ala)
c.1895A>C (p.Glu632Ala)
c.1901A>C (p.Glu634Ala)
c.1817A>C (p.Glu606Ala)
c.1745A>C (p.Glu582Ala)
c.1679A>C (p.Glu560Ala)
c.1040A>C (p.Glu347Ala)
c.1658A>C (p.Glu553Ala)
 gnomAD v4
9g.137776742A>GCA375776444EHMT1c.1916A>G (p.Glu639Gly)
c.1802A>G (p.Glu601Gly)
c.1823A>G (p.Glu608Gly)
c.1956A>G (n.1956A>G)
c.1543A>G
c.1085A>G (p.Glu362Gly)
c.*1651A>G (n.*1651A>G)
c.773A>G (p.Glu258Gly)
c.464A>G (p.Glu155Gly)
n.1707T>C
c.1907A>G (p.Glu636Gly)
c.1898A>G (p.Glu633Gly)
c.1925A>G (p.Glu642Gly)
c.1922A>G (p.Glu641Gly)
c.1904A>G (p.Glu635Gly)
c.1847A>G (p.Glu616Gly)
c.1781A>G (p.Glu594Gly)
c.347A>G (p.Glu116Gly)
c.1760A>G (p.Glu587Gly)
c.1895A>G (p.Glu632Gly)
c.1901A>G (p.Glu634Gly)
c.1817A>G (p.Glu606Gly)
c.1745A>G (p.Glu582Gly)
c.1679A>G (p.Glu560Gly)
c.1040A>G (p.Glu347Gly)
c.1658A>G (p.Glu553Gly)
 gnomAD v4
9g.137776742A>TCA375776440EHMT1c.1916A>T (p.Glu639Val)
c.1802A>T (p.Glu601Val)
c.1823A>T (p.Glu608Val)
c.1956A>T (n.1956A>T)
c.1543A>T
c.1085A>T (p.Glu362Val)
c.*1651A>T (n.*1651A>T)
c.773A>T (p.Glu258Val)
c.464A>T (p.Glu155Val)
n.1707T>A
c.1907A>T (p.Glu636Val)
c.1898A>T (p.Glu633Val)
c.1925A>T (p.Glu642Val)
c.1922A>T (p.Glu641Val)
c.1904A>T (p.Glu635Val)
c.1847A>T (p.Glu616Val)
c.1781A>T (p.Glu594Val)
c.347A>T (p.Glu116Val)
c.1760A>T (p.Glu587Val)
c.1895A>T (p.Glu632Val)
c.1901A>T (p.Glu634Val)
c.1817A>T (p.Glu606Val)
c.1745A>T (p.Glu582Val)
c.1679A>T (p.Glu560Val)
c.1040A>T (p.Glu347Val)
c.1658A>T (p.Glu553Val)
9g.137776743G>ACA467874098EHMT1c.1917G>A (p.Glu639=)
c.1803G>A (p.Glu601=)
c.1824G>A (p.Glu608=)
c.1957G>A (n.1957G>A)
c.1544G>A
c.1086G>A (p.Glu362=)
c.*1652G>A (n.*1652G>A)
c.774G>A (p.Glu258=)
c.465G>A (p.Glu155=)
n.1706C>T
c.1908G>A (p.Glu636=)
c.1899G>A (p.Glu633=)
c.1926G>A (p.Glu642=)
c.1923G>A (p.Glu641=)
c.1905G>A (p.Glu635=)
c.1848G>A (p.Glu616=)
c.1782G>A (p.Glu594=)
c.348G>A (p.Glu116=)
c.1761G>A (p.Glu587=)
c.1896G>A (p.Glu632=)
c.1902G>A (p.Glu634=)
c.1818G>A (p.Glu606=)
c.1746G>A (p.Glu582=)
c.1680G>A (p.Glu560=)
c.1041G>A (p.Glu347=)
c.1659G>A (p.Glu553=)
9g.137776743G>CCA375776461EHMT1c.1917G>C (p.Glu639Asp)
c.1803G>C (p.Glu601Asp)
c.1824G>C (p.Glu608Asp)
c.1957G>C (n.1957G>C)
c.1544G>C
c.1086G>C (p.Glu362Asp)
c.*1652G>C (n.*1652G>C)
c.774G>C (p.Glu258Asp)
c.465G>C (p.Glu155Asp)
n.1706C>G
c.1908G>C (p.Glu636Asp)
c.1899G>C (p.Glu633Asp)
c.1926G>C (p.Glu642Asp)
c.1923G>C (p.Glu641Asp)
c.1905G>C (p.Glu635Asp)
c.1848G>C (p.Glu616Asp)
c.1782G>C (p.Glu594Asp)
c.348G>C (p.Glu116Asp)
c.1761G>C (p.Glu587Asp)
c.1896G>C (p.Glu632Asp)
c.1902G>C (p.Glu634Asp)
c.1818G>C (p.Glu606Asp)
c.1746G>C (p.Glu582Asp)
c.1680G>C (p.Glu560Asp)
c.1041G>C (p.Glu347Asp)
c.1659G>C (p.Glu553Asp)
9g.137776743G>TCA375776463EHMT1c.1917G>T (p.Glu639Asp)
c.1803G>T (p.Glu601Asp)
c.1824G>T (p.Glu608Asp)
c.1957G>T (n.1957G>T)
c.1544G>T
c.1086G>T (p.Glu362Asp)
c.*1652G>T (n.*1652G>T)
c.774G>T (p.Glu258Asp)
c.465G>T (p.Glu155Asp)
n.1706C>A
c.1908G>T (p.Glu636Asp)
c.1899G>T (p.Glu633Asp)
c.1926G>T (p.Glu642Asp)
c.1923G>T (p.Glu641Asp)
c.1905G>T (p.Glu635Asp)
c.1848G>T (p.Glu616Asp)
c.1782G>T (p.Glu594Asp)
c.348G>T (p.Glu116Asp)
c.1761G>T (p.Glu587Asp)
c.1896G>T (p.Glu632Asp)
c.1902G>T (p.Glu634Asp)
c.1818G>T (p.Glu606Asp)
c.1746G>T (p.Glu582Asp)
c.1680G>T (p.Glu560Asp)
c.1041G>T (p.Glu347Asp)
c.1659G>T (p.Glu553Asp)
9g.137776744_137776746dupCA5374755EHMT1c.1918_1920dup (p.Val640_Thr641insVal)
c.1804_1806dup (p.Val602_Thr603insVal)
c.1825_1827dup (p.Val609_Thr610insVal)
c.1958_1960dup (n.1958_1960dup)
c.1545_1547dup
c.1087_1089dup (p.Val363_Thr364insVal)
c.*1653_*1655dup (n.*1653_*1655dup)
c.775_777dup (p.Val259_Thr260insVal)
c.466_468dup (p.Val156_Thr157insVal)
n.1704_1706dup
c.1909_1911dup (p.Val637_Thr638insVal)
c.1900_1902dup (p.Val634_Thr635insVal)
c.1927_1929dup (p.Val643_Thr644insVal)
c.1924_1926dup (p.Val642_Thr643insVal)
c.1906_1908dup (p.Val636_Thr637insVal)
c.1849_1851dup (p.Val617_Thr618insVal)
c.1783_1785dup (p.Val595_Thr596insVal)
c.349_351dup (p.Val117_Thr118insVal)
c.1762_1764dup (p.Val588_Thr589insVal)
c.1897_1899dup (p.Val633_Thr634insVal)
c.1903_1905dup (p.Val635_Thr636insVal)
c.1819_1821dup (p.Val607_Thr608insVal)
c.1747_1749dup (p.Val583_Thr584insVal)
c.1681_1683dup (p.Val561_Thr562insVal)
c.1042_1044dup (p.Val348_Thr349insVal)
c.1660_1662dup (p.Val554_Thr555insVal)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137776744G>ACA375776470EHMT1c.1918G>A (p.Val640Met)
c.1804G>A (p.Val602Met)
c.1825G>A (p.Val609Met)
c.1958G>A (n.1958G>A)
c.1545G>A
c.1087G>A (p.Val363Met)
c.*1653G>A (n.*1653G>A)
c.775G>A (p.Val259Met)
c.466G>A (p.Val156Met)
n.1705C>T
c.1909G>A (p.Val637Met)
c.1900G>A (p.Val634Met)
c.1927G>A (p.Val643Met)
c.1924G>A (p.Val642Met)
c.1906G>A (p.Val636Met)
c.1849G>A (p.Val617Met)
c.1783G>A (p.Val595Met)
c.349G>A (p.Val117Met)
c.1762G>A (p.Val588Met)
c.1897G>A (p.Val633Met)
c.1903G>A (p.Val635Met)
c.1819G>A (p.Val607Met)
c.1747G>A (p.Val583Met)
c.1681G>A (p.Val561Met)
c.1042G>A (p.Val348Met)
c.1660G>A (p.Val554Met)
 ClinVar dbSNP gnomAD v4
9g.137776744G>CCA375776473EHMT1c.1918G>C (p.Val640Leu)
c.1804G>C (p.Val602Leu)
c.1825G>C (p.Val609Leu)
c.1958G>C (n.1958G>C)
c.1545G>C
c.1087G>C (p.Val363Leu)
c.*1653G>C (n.*1653G>C)
c.775G>C (p.Val259Leu)
c.466G>C (p.Val156Leu)
n.1705C>G
c.1909G>C (p.Val637Leu)
c.1900G>C (p.Val634Leu)
c.1927G>C (p.Val643Leu)
c.1924G>C (p.Val642Leu)
c.1906G>C (p.Val636Leu)
c.1849G>C (p.Val617Leu)
c.1783G>C (p.Val595Leu)
c.349G>C (p.Val117Leu)
c.1762G>C (p.Val588Leu)
c.1897G>C (p.Val633Leu)
c.1903G>C (p.Val635Leu)
c.1819G>C (p.Val607Leu)
c.1747G>C (p.Val583Leu)
c.1681G>C (p.Val561Leu)
c.1042G>C (p.Val348Leu)
c.1660G>C (p.Val554Leu)
9g.137776744G=CA1884666501EHMT1c.1918G= (p.Val640=)
c.1804G= (p.Val602=)
c.1825G= (p.Val609=)
c.1958G= (n.1958G=)
c.1545G=
c.1087G= (p.Val363=)
c.*1653G= (n.*1653G=)
c.775G= (p.Val259=)
c.466G= (p.Val156=)
n.1705C=
c.1909G= (p.Val637=)
c.1900G= (p.Val634=)
c.1927G= (p.Val643=)
c.1924G= (p.Val642=)
c.1906G= (p.Val636=)
c.1849G= (p.Val617=)
c.1783G= (p.Val595=)
c.349G= (p.Val117=)
c.1762G= (p.Val588=)
c.1897G= (p.Val633=)
c.1903G= (p.Val635=)
c.1819G= (p.Val607=)
c.1747G= (p.Val583=)
c.1681G= (p.Val561=)
c.1042G= (p.Val348=)
c.1660G= (p.Val554=)
9g.137776744G>TCA375776475EHMT1c.1918G>T (p.Val640Leu)
c.1804G>T (p.Val602Leu)
c.1825G>T (p.Val609Leu)
c.1958G>T (n.1958G>T)
c.1545G>T
c.1087G>T (p.Val363Leu)
c.*1653G>T (n.*1653G>T)
c.775G>T (p.Val259Leu)
c.466G>T (p.Val156Leu)
n.1705C>A
c.1909G>T (p.Val637Leu)
c.1900G>T (p.Val634Leu)
c.1927G>T (p.Val643Leu)
c.1924G>T (p.Val642Leu)
c.1906G>T (p.Val636Leu)
c.1849G>T (p.Val617Leu)
c.1783G>T (p.Val595Leu)
c.349G>T (p.Val117Leu)
c.1762G>T (p.Val588Leu)
c.1897G>T (p.Val633Leu)
c.1903G>T (p.Val635Leu)
c.1819G>T (p.Val607Leu)
c.1747G>T (p.Val583Leu)
c.1681G>T (p.Val561Leu)
c.1042G>T (p.Val348Leu)
c.1660G>T (p.Val554Leu)
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.137776745T>ACA375776476EHMT1c.1919T>A (p.Val640Glu)
c.1805T>A (p.Val602Glu)
c.1826T>A (p.Val609Glu)
c.1959T>A (n.1959T>A)
c.1546T>A
c.1088T>A (p.Val363Glu)
c.*1654T>A (n.*1654T>A)
c.776T>A (p.Val259Glu)
c.467T>A (p.Val156Glu)
n.1704A>T
c.1910T>A (p.Val637Glu)
c.1901T>A (p.Val634Glu)
c.1928T>A (p.Val643Glu)
c.1925T>A (p.Val642Glu)
c.1907T>A (p.Val636Glu)
c.1850T>A (p.Val617Glu)
c.1784T>A (p.Val595Glu)
c.350T>A (p.Val117Glu)
c.1763T>A (p.Val588Glu)
c.1898T>A (p.Val633Glu)
c.1904T>A (p.Val635Glu)
c.1820T>A (p.Val607Glu)
c.1748T>A (p.Val583Glu)
c.1682T>A (p.Val561Glu)
c.1043T>A (p.Val348Glu)
c.1661T>A (p.Val554Glu)
9g.137776745T>CCA375776479EHMT1c.1919T>C (p.Val640Ala)
c.1805T>C (p.Val602Ala)
c.1826T>C (p.Val609Ala)
c.1959T>C (n.1959T>C)
c.1546T>C
c.1088T>C (p.Val363Ala)
c.*1654T>C (n.*1654T>C)
c.776T>C (p.Val259Ala)
c.467T>C (p.Val156Ala)
n.1704A>G
c.1910T>C (p.Val637Ala)
c.1901T>C (p.Val634Ala)
c.1928T>C (p.Val643Ala)
c.1925T>C (p.Val642Ala)
c.1907T>C (p.Val636Ala)
c.1850T>C (p.Val617Ala)
c.1784T>C (p.Val595Ala)
c.350T>C (p.Val117Ala)
c.1763T>C (p.Val588Ala)
c.1898T>C (p.Val633Ala)
c.1904T>C (p.Val635Ala)
c.1820T>C (p.Val607Ala)
c.1748T>C (p.Val583Ala)
c.1682T>C (p.Val561Ala)
c.1043T>C (p.Val348Ala)
c.1661T>C (p.Val554Ala)
9g.137776745T>GCA375776477EHMT1c.1919T>G (p.Val640Gly)
c.1805T>G (p.Val602Gly)
c.1826T>G (p.Val609Gly)
c.1959T>G (n.1959T>G)
c.1546T>G
c.1088T>G (p.Val363Gly)
c.*1654T>G (n.*1654T>G)
c.776T>G (p.Val259Gly)
c.467T>G (p.Val156Gly)
n.1704A>C
c.1910T>G (p.Val637Gly)
c.1901T>G (p.Val634Gly)
c.1928T>G (p.Val643Gly)
c.1925T>G (p.Val642Gly)
c.1907T>G (p.Val636Gly)
c.1850T>G (p.Val617Gly)
c.1784T>G (p.Val595Gly)
c.350T>G (p.Val117Gly)
c.1763T>G (p.Val588Gly)
c.1898T>G (p.Val633Gly)
c.1904T>G (p.Val635Gly)
c.1820T>G (p.Val607Gly)
c.1748T>G (p.Val583Gly)
c.1682T>G (p.Val561Gly)
c.1043T>G (p.Val348Gly)
c.1661T>G (p.Val554Gly)
9g.137776745T=CA1884666502EHMT1c.1919T= (p.Val640=)
c.1805T= (p.Val602=)
c.1826T= (p.Val609=)
c.1959T= (n.1959T=)
c.1546T=
c.1088T= (p.Val363=)
c.*1654T= (n.*1654T=)
c.776T= (p.Val259=)
c.467T= (p.Val156=)
n.1704A=
c.1910T= (p.Val637=)
c.1901T= (p.Val634=)
c.1928T= (p.Val643=)
c.1925T= (p.Val642=)
c.1907T= (p.Val636=)
c.1850T= (p.Val617=)
c.1784T= (p.Val595=)
c.350T= (p.Val117=)
c.1763T= (p.Val588=)
c.1898T= (p.Val633=)
c.1904T= (p.Val635=)
c.1820T= (p.Val607=)
c.1748T= (p.Val583=)
c.1682T= (p.Val561=)
c.1043T= (p.Val348=)
c.1661T= (p.Val554=)
9g.137776746G>ACA467874099EHMT1c.1920G>A (p.Val640=)
c.1806G>A (p.Val602=)
c.1827G>A (p.Val609=)
c.1960G>A (n.1960G>A)
c.1547G>A
c.1089G>A (p.Val363=)
c.*1655G>A (n.*1655G>A)
c.777G>A (p.Val259=)
c.468G>A (p.Val156=)
n.1703C>T
c.1911G>A (p.Val637=)
c.1902G>A (p.Val634=)
c.1929G>A (p.Val643=)
c.1926G>A (p.Val642=)
c.1908G>A (p.Val636=)
c.1851G>A (p.Val617=)
c.1785G>A (p.Val595=)
c.351G>A (p.Val117=)
c.1764G>A (p.Val588=)
c.1899G>A (p.Val633=)
c.1905G>A (p.Val635=)
c.1821G>A (p.Val607=)
c.1749G>A (p.Val583=)
c.1683G>A (p.Val561=)
c.1044G>A (p.Val348=)
c.1662G>A (p.Val554=)
9g.137776746G>CCA467874100EHMT1c.1920G>C (p.Val640=)
c.1806G>C (p.Val602=)
c.1827G>C (p.Val609=)
c.1960G>C (n.1960G>C)
c.1547G>C
c.1089G>C (p.Val363=)
c.*1655G>C (n.*1655G>C)
c.777G>C (p.Val259=)
c.468G>C (p.Val156=)
n.1703C>G
c.1911G>C (p.Val637=)
c.1902G>C (p.Val634=)
c.1929G>C (p.Val643=)
c.1926G>C (p.Val642=)
c.1908G>C (p.Val636=)
c.1851G>C (p.Val617=)
c.1785G>C (p.Val595=)
c.351G>C (p.Val117=)
c.1764G>C (p.Val588=)
c.1899G>C (p.Val633=)
c.1905G>C (p.Val635=)
c.1821G>C (p.Val607=)
c.1749G>C (p.Val583=)
c.1683G>C (p.Val561=)
c.1044G>C (p.Val348=)
c.1662G>C (p.Val554=)
9g.137776746G>TCA467874101EHMT1c.1920G>T (p.Val640=)
c.1806G>T (p.Val602=)
c.1827G>T (p.Val609=)
c.1960G>T (n.1960G>T)
c.1547G>T
c.1089G>T (p.Val363=)
c.*1655G>T (n.*1655G>T)
c.777G>T (p.Val259=)
c.468G>T (p.Val156=)
n.1703C>A
c.1911G>T (p.Val637=)
c.1902G>T (p.Val634=)
c.1929G>T (p.Val643=)
c.1926G>T (p.Val642=)
c.1908G>T (p.Val636=)
c.1851G>T (p.Val617=)
c.1785G>T (p.Val595=)
c.351G>T (p.Val117=)
c.1764G>T (p.Val588=)
c.1899G>T (p.Val633=)
c.1905G>T (p.Val635=)
c.1821G>T (p.Val607=)
c.1749G>T (p.Val583=)
c.1683G>T (p.Val561=)
c.1044G>T (p.Val348=)
c.1662G>T (p.Val554=)
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)

Number of alleles fetched