Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137762736C>ACA375769047EHMT1c.1563C>A (p.Ser521Arg)
c.1449C>A (p.Ser483Arg)
c.1470C>A (p.Ser490Arg)
c.1603C>A (n.1603C>A)
c.1508C>A
c.1190C>A
c.732C>A (p.Ser244Arg)
c.*1298C>A (n.*1298C>A)
c.420C>A (p.Ser140Arg)
c.255C>A (p.Ser85Arg)
c.656C>A
c.1554C>A (p.Ser518Arg)
c.1545C>A (p.Ser515Arg)
c.1572C>A (p.Ser524Arg)
c.1569C>A (p.Ser523Arg)
c.1551C>A (p.Ser517Arg)
c.1494C>A (p.Ser498Arg)
c.-7C>A (n.-7C>A)
c.1542C>A (p.Ser514Arg)
c.1548C>A (p.Ser516Arg)
c.1464C>A (p.Ser488Arg)
c.1392C>A (p.Ser464Arg)
c.687C>A (p.Ser229Arg)
9g.137762736C=CA1884659572EHMT1c.1563C= (p.Ser521=)
c.1449C= (p.Ser483=)
c.1470C= (p.Ser490=)
c.1603C= (n.1603C=)
c.1508C=
c.1190C=
c.732C= (p.Ser244=)
c.*1298C= (n.*1298C=)
c.420C= (p.Ser140=)
c.255C= (p.Ser85=)
c.656C=
c.1554C= (p.Ser518=)
c.1545C= (p.Ser515=)
c.1572C= (p.Ser524=)
c.1569C= (p.Ser523=)
c.1551C= (p.Ser517=)
c.1494C= (p.Ser498=)
c.-7C= (n.-7C=)
c.1542C= (p.Ser514=)
c.1548C= (p.Ser516=)
c.1464C= (p.Ser488=)
c.1392C= (p.Ser464=)
c.687C= (p.Ser229=)
9g.137762736C>GCA375769055EHMT1c.1563C>G (p.Ser521Arg)
c.1449C>G (p.Ser483Arg)
c.1470C>G (p.Ser490Arg)
c.1603C>G (n.1603C>G)
c.1508C>G
c.1190C>G
c.732C>G (p.Ser244Arg)
c.*1298C>G (n.*1298C>G)
c.420C>G (p.Ser140Arg)
c.255C>G (p.Ser85Arg)
c.656C>G
c.1554C>G (p.Ser518Arg)
c.1545C>G (p.Ser515Arg)
c.1572C>G (p.Ser524Arg)
c.1569C>G (p.Ser523Arg)
c.1551C>G (p.Ser517Arg)
c.1494C>G (p.Ser498Arg)
c.-7C>G (n.-7C>G)
c.1542C>G (p.Ser514Arg)
c.1548C>G (p.Ser516Arg)
c.1464C>G (p.Ser488Arg)
c.1392C>G (p.Ser464Arg)
c.687C>G (p.Ser229Arg)
9g.137762736C>TCA5374663EHMT1c.1563C>T (p.Ser521=)
c.1449C>T (p.Ser483=)
c.1470C>T (p.Ser490=)
c.1603C>T (n.1603C>T)
c.1508C>T
c.1190C>T
c.732C>T (p.Ser244=)
c.*1298C>T (n.*1298C>T)
c.420C>T (p.Ser140=)
c.255C>T (p.Ser85=)
c.656C>T
c.1554C>T (p.Ser518=)
c.1545C>T (p.Ser515=)
c.1572C>T (p.Ser524=)
c.1569C>T (p.Ser523=)
c.1551C>T (p.Ser517=)
c.1494C>T (p.Ser498=)
c.-7C>T (n.-7C>T)
c.1542C>T (p.Ser514=)
c.1548C>T (p.Ser516=)
c.1464C>T (p.Ser488=)
c.1392C>T (p.Ser464=)
c.687C>T (p.Ser229=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137762737T>ACA375769070EHMT1c.1564T>A (p.Cys522Ser)
c.1450T>A (p.Cys484Ser)
c.1471T>A (p.Cys491Ser)
c.1604T>A (n.1604T>A)
c.1509T>A
c.1191T>A
c.733T>A (p.Cys245Ser)
c.*1299T>A (n.*1299T>A)
c.421T>A (p.Cys141Ser)
c.256T>A (p.Cys86Ser)
c.657T>A
c.1555T>A (p.Cys519Ser)
c.1546T>A (p.Cys516Ser)
c.1573T>A (p.Cys525Ser)
c.1570T>A (p.Cys524Ser)
c.1552T>A (p.Cys518Ser)
c.1495T>A (p.Cys499Ser)
c.-6T>A (n.-6T>A)
c.1543T>A (p.Cys515Ser)
c.1549T>A (p.Cys517Ser)
c.1465T>A (p.Cys489Ser)
c.1393T>A (p.Cys465Ser)
c.688T>A (p.Cys230Ser)
9g.137762737T>CCA375769080EHMT1c.1564T>C (p.Cys522Arg)
c.1450T>C (p.Cys484Arg)
c.1471T>C (p.Cys491Arg)
c.1604T>C (n.1604T>C)
c.1509T>C
c.1191T>C
c.733T>C (p.Cys245Arg)
c.*1299T>C (n.*1299T>C)
c.421T>C (p.Cys141Arg)
c.256T>C (p.Cys86Arg)
c.657T>C
c.1555T>C (p.Cys519Arg)
c.1546T>C (p.Cys516Arg)
c.1573T>C (p.Cys525Arg)
c.1570T>C (p.Cys524Arg)
c.1552T>C (p.Cys518Arg)
c.1495T>C (p.Cys499Arg)
c.-6T>C (n.-6T>C)
c.1543T>C (p.Cys515Arg)
c.1549T>C (p.Cys517Arg)
c.1465T>C (p.Cys489Arg)
c.1393T>C (p.Cys465Arg)
c.688T>C (p.Cys230Arg)
9g.137762737T>GCA375769071EHMT1c.1564T>G (p.Cys522Gly)
c.1450T>G (p.Cys484Gly)
c.1471T>G (p.Cys491Gly)
c.1604T>G (n.1604T>G)
c.1509T>G
c.1191T>G
c.733T>G (p.Cys245Gly)
c.*1299T>G (n.*1299T>G)
c.421T>G (p.Cys141Gly)
c.256T>G (p.Cys86Gly)
c.657T>G
c.1555T>G (p.Cys519Gly)
c.1546T>G (p.Cys516Gly)
c.1573T>G (p.Cys525Gly)
c.1570T>G (p.Cys524Gly)
c.1552T>G (p.Cys518Gly)
c.1495T>G (p.Cys499Gly)
c.-6T>G (n.-6T>G)
c.1543T>G (p.Cys515Gly)
c.1549T>G (p.Cys517Gly)
c.1465T>G (p.Cys489Gly)
c.1393T>G (p.Cys465Gly)
c.688T>G (p.Cys230Gly)
9g.137762738G>ACA375769082EHMT1c.1565G>A (p.Cys522Tyr)
c.1451G>A (p.Cys484Tyr)
c.1472G>A (p.Cys491Tyr)
c.1605G>A (n.1605G>A)
c.1510G>A
c.1192G>A
c.734G>A (p.Cys245Tyr)
c.*1300G>A (n.*1300G>A)
c.422G>A (p.Cys141Tyr)
c.257G>A (p.Cys86Tyr)
c.658G>A
c.1556G>A (p.Cys519Tyr)
c.1547G>A (p.Cys516Tyr)
c.1574G>A (p.Cys525Tyr)
c.1571G>A (p.Cys524Tyr)
c.1553G>A (p.Cys518Tyr)
c.1496G>A (p.Cys499Tyr)
c.-5G>A (n.-5G>A)
c.1544G>A (p.Cys515Tyr)
c.1550G>A (p.Cys517Tyr)
c.1466G>A (p.Cys489Tyr)
c.1394G>A (p.Cys465Tyr)
c.689G>A (p.Cys230Tyr)
9g.137762738G>CCA375769083EHMT1c.1565G>C (p.Cys522Ser)
c.1451G>C (p.Cys484Ser)
c.1472G>C (p.Cys491Ser)
c.1605G>C (n.1605G>C)
c.1510G>C
c.1192G>C
c.734G>C (p.Cys245Ser)
c.*1300G>C (n.*1300G>C)
c.422G>C (p.Cys141Ser)
c.257G>C (p.Cys86Ser)
c.658G>C
c.1556G>C (p.Cys519Ser)
c.1547G>C (p.Cys516Ser)
c.1574G>C (p.Cys525Ser)
c.1571G>C (p.Cys524Ser)
c.1553G>C (p.Cys518Ser)
c.1496G>C (p.Cys499Ser)
c.-5G>C (n.-5G>C)
c.1544G>C (p.Cys515Ser)
c.1550G>C (p.Cys517Ser)
c.1466G>C (p.Cys489Ser)
c.1394G>C (p.Cys465Ser)
c.689G>C (p.Cys230Ser)
9g.137762738G>TCA375769087EHMT1c.1565G>T (p.Cys522Phe)
c.1451G>T (p.Cys484Phe)
c.1472G>T (p.Cys491Phe)
c.1605G>T (n.1605G>T)
c.1510G>T
c.1192G>T
c.734G>T (p.Cys245Phe)
c.*1300G>T (n.*1300G>T)
c.422G>T (p.Cys141Phe)
c.257G>T (p.Cys86Phe)
c.658G>T
c.1556G>T (p.Cys519Phe)
c.1547G>T (p.Cys516Phe)
c.1574G>T (p.Cys525Phe)
c.1571G>T (p.Cys524Phe)
c.1553G>T (p.Cys518Phe)
c.1496G>T (p.Cys499Phe)
c.-5G>T (n.-5G>T)
c.1544G>T (p.Cys515Phe)
c.1550G>T (p.Cys517Phe)
c.1466G>T (p.Cys489Phe)
c.1394G>T (p.Cys465Phe)
c.689G>T (p.Cys230Phe)
9g.137762739C>ACA375769091EHMT1c.1566C>A (p.Cys522Ter)
c.1452C>A (p.Cys484Ter)
c.1473C>A (p.Cys491Ter)
c.1606C>A (n.1606C>A)
c.1511C>A
c.1193C>A
c.735C>A (p.Cys245Ter)
c.*1301C>A (n.*1301C>A)
c.423C>A (p.Cys141Ter)
c.258C>A (p.Cys86Ter)
c.659C>A
c.1557C>A (p.Cys519Ter)
c.1548C>A (p.Cys516Ter)
c.1575C>A (p.Cys525Ter)
c.1572C>A (p.Cys524Ter)
c.1554C>A (p.Cys518Ter)
c.1497C>A (p.Cys499Ter)
c.-4C>A (n.-4C>A)
c.1545C>A (p.Cys515Ter)
c.1551C>A (p.Cys517Ter)
c.1467C>A (p.Cys489Ter)
c.1395C>A (p.Cys465Ter)
c.690C>A (p.Cys230Ter)
9g.137762739C>GCA375769093EHMT1c.1566C>G (p.Cys522Trp)
c.1452C>G (p.Cys484Trp)
c.1473C>G (p.Cys491Trp)
c.1606C>G (n.1606C>G)
c.1511C>G
c.1193C>G
c.735C>G (p.Cys245Trp)
c.*1301C>G (n.*1301C>G)
c.423C>G (p.Cys141Trp)
c.258C>G (p.Cys86Trp)
c.659C>G
c.1557C>G (p.Cys519Trp)
c.1548C>G (p.Cys516Trp)
c.1575C>G (p.Cys525Trp)
c.1572C>G (p.Cys524Trp)
c.1554C>G (p.Cys518Trp)
c.1497C>G (p.Cys499Trp)
c.-4C>G (n.-4C>G)
c.1545C>G (p.Cys515Trp)
c.1551C>G (p.Cys517Trp)
c.1467C>G (p.Cys489Trp)
c.1395C>G (p.Cys465Trp)
c.690C>G (p.Cys230Trp)
9g.137762739C>TCA467873886EHMT1c.1566C>T (p.Cys522=)
c.1452C>T (p.Cys484=)
c.1473C>T (p.Cys491=)
c.1606C>T (n.1606C>T)
c.1511C>T
c.1193C>T
c.735C>T (p.Cys245=)
c.*1301C>T (n.*1301C>T)
c.423C>T (p.Cys141=)
c.258C>T (p.Cys86=)
c.659C>T
c.1557C>T (p.Cys519=)
c.1548C>T (p.Cys516=)
c.1575C>T (p.Cys525=)
c.1572C>T (p.Cys524=)
c.1554C>T (p.Cys518=)
c.1497C>T (p.Cys499=)
c.-4C>T (n.-4C>T)
c.1545C>T (p.Cys515=)
c.1551C>T (p.Cys517=)
c.1467C>T (p.Cys489=)
c.1395C>T (p.Cys465=)
c.690C>T (p.Cys230=)
9g.137762740C>ACA467873887EHMT1c.1567C>A (p.Arg523=)
c.1453C>A (p.Arg485=)
c.1474C>A (p.Arg492=)
c.1607C>A (n.1607C>A)
c.1512C>A
c.1194C>A
c.736C>A (p.Arg246=)
c.*1302C>A (n.*1302C>A)
c.424C>A (p.Arg142=)
c.259C>A (p.Arg87=)
c.660C>A
c.1558C>A (p.Arg520=)
c.1549C>A (p.Arg517=)
c.1576C>A (p.Arg526=)
c.1573C>A (p.Arg525=)
c.1555C>A (p.Arg519=)
c.1498C>A (p.Arg500=)
c.-3C>A (n.-3C>A)
c.1546C>A (p.Arg516=)
c.1552C>A (p.Arg518=)
c.1468C>A (p.Arg490=)
c.1396C>A (p.Arg466=)
c.691C>A (p.Arg231=)
 dbSNP
9g.137762740C=CA1884659573EHMT1c.1567C= (p.Arg523=)
c.1453C= (p.Arg485=)
c.1474C= (p.Arg492=)
c.1607C= (n.1607C=)
c.1512C=
c.1194C=
c.736C= (p.Arg246=)
c.*1302C= (n.*1302C=)
c.424C= (p.Arg142=)
c.259C= (p.Arg87=)
c.660C=
c.1558C= (p.Arg520=)
c.1549C= (p.Arg517=)
c.1576C= (p.Arg526=)
c.1573C= (p.Arg525=)
c.1555C= (p.Arg519=)
c.1498C= (p.Arg500=)
c.-3C= (n.-3C=)
c.1546C= (p.Arg516=)
c.1552C= (p.Arg518=)
c.1468C= (p.Arg490=)
c.1396C= (p.Arg466=)
c.691C= (p.Arg231=)
9g.137762740C>GCA375769099EHMT1c.1567C>G (p.Arg523Gly)
c.1453C>G (p.Arg485Gly)
c.1474C>G (p.Arg492Gly)
c.1607C>G (n.1607C>G)
c.1512C>G
c.1194C>G
c.736C>G (p.Arg246Gly)
c.*1302C>G (n.*1302C>G)
c.424C>G (p.Arg142Gly)
c.259C>G (p.Arg87Gly)
c.660C>G
c.1558C>G (p.Arg520Gly)
c.1549C>G (p.Arg517Gly)
c.1576C>G (p.Arg526Gly)
c.1573C>G (p.Arg525Gly)
c.1555C>G (p.Arg519Gly)
c.1498C>G (p.Arg500Gly)
c.-3C>G (n.-3C>G)
c.1546C>G (p.Arg516Gly)
c.1552C>G (p.Arg518Gly)
c.1468C>G (p.Arg490Gly)
c.1396C>G (p.Arg466Gly)
c.691C>G (p.Arg231Gly)
9g.137762740C>TCA5374664EHMT1c.1567C>T (p.Arg523Trp)
c.1453C>T (p.Arg485Trp)
c.1474C>T (p.Arg492Trp)
c.1607C>T (n.1607C>T)
c.1512C>T
c.1194C>T
c.736C>T (p.Arg246Trp)
c.*1302C>T (n.*1302C>T)
c.424C>T (p.Arg142Trp)
c.259C>T (p.Arg87Trp)
c.660C>T
c.1558C>T (p.Arg520Trp)
c.1549C>T (p.Arg517Trp)
c.1576C>T (p.Arg526Trp)
c.1573C>T (p.Arg525Trp)
c.1555C>T (p.Arg519Trp)
c.1498C>T (p.Arg500Trp)
c.-3C>T (n.-3C>T)
c.1546C>T (p.Arg516Trp)
c.1552C>T (p.Arg518Trp)
c.1468C>T (p.Arg490Trp)
c.1396C>T (p.Arg466Trp)
c.691C>T (p.Arg231Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762741G>ACA375769117EHMT1c.1568G>A (p.Arg523Gln)
c.1454G>A (p.Arg485Gln)
c.1475G>A (p.Arg492Gln)
c.1608G>A (n.1608G>A)
c.1513G>A
c.1195G>A
c.737G>A (p.Arg246Gln)
c.*1303G>A (n.*1303G>A)
c.425G>A (p.Arg142Gln)
c.260G>A (p.Arg87Gln)
c.661G>A
c.1559G>A (p.Arg520Gln)
c.1550G>A (p.Arg517Gln)
c.1577G>A (p.Arg526Gln)
c.1574G>A (p.Arg525Gln)
c.1556G>A (p.Arg519Gln)
c.1499G>A (p.Arg500Gln)
c.-2G>A (n.-2G>A)
c.1547G>A (p.Arg516Gln)
c.1553G>A (p.Arg518Gln)
c.1469G>A (p.Arg490Gln)
c.1397G>A (p.Arg466Gln)
c.692G>A (p.Arg231Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.137762741G>CCA375769120EHMT1c.1568G>C (p.Arg523Pro)
c.1454G>C (p.Arg485Pro)
c.1475G>C (p.Arg492Pro)
c.1608G>C (n.1608G>C)
c.1513G>C
c.1195G>C
c.737G>C (p.Arg246Pro)
c.*1303G>C (n.*1303G>C)
c.425G>C (p.Arg142Pro)
c.260G>C (p.Arg87Pro)
c.661G>C
c.1559G>C (p.Arg520Pro)
c.1550G>C (p.Arg517Pro)
c.1577G>C (p.Arg526Pro)
c.1574G>C (p.Arg525Pro)
c.1556G>C (p.Arg519Pro)
c.1499G>C (p.Arg500Pro)
c.-2G>C (n.-2G>C)
c.1547G>C (p.Arg516Pro)
c.1553G>C (p.Arg518Pro)
c.1469G>C (p.Arg490Pro)
c.1397G>C (p.Arg466Pro)
c.692G>C (p.Arg231Pro)
9g.137762741G=CA1884659574EHMT1c.1568G= (p.Arg523=)
c.1454G= (p.Arg485=)
c.1475G= (p.Arg492=)
c.1608G= (n.1608G=)
c.1513G=
c.1195G=
c.737G= (p.Arg246=)
c.*1303G= (n.*1303G=)
c.425G= (p.Arg142=)
c.260G= (p.Arg87=)
c.661G=
c.1559G= (p.Arg520=)
c.1550G= (p.Arg517=)
c.1577G= (p.Arg526=)
c.1574G= (p.Arg525=)
c.1556G= (p.Arg519=)
c.1499G= (p.Arg500=)
c.-2G= (n.-2G=)
c.1547G= (p.Arg516=)
c.1553G= (p.Arg518=)
c.1469G= (p.Arg490=)
c.1397G= (p.Arg466=)
c.692G= (p.Arg231=)
9g.137762741G>TCA375769122EHMT1c.1568G>T (p.Arg523Leu)
c.1454G>T (p.Arg485Leu)
c.1475G>T (p.Arg492Leu)
c.1608G>T (n.1608G>T)
c.1513G>T
c.1195G>T
c.737G>T (p.Arg246Leu)
c.*1303G>T (n.*1303G>T)
c.425G>T (p.Arg142Leu)
c.260G>T (p.Arg87Leu)
c.661G>T
c.1559G>T (p.Arg520Leu)
c.1550G>T (p.Arg517Leu)
c.1577G>T (p.Arg526Leu)
c.1574G>T (p.Arg525Leu)
c.1556G>T (p.Arg519Leu)
c.1499G>T (p.Arg500Leu)
c.-2G>T (n.-2G>T)
c.1547G>T (p.Arg516Leu)
c.1553G>T (p.Arg518Leu)
c.1469G>T (p.Arg490Leu)
c.1397G>T (p.Arg466Leu)
c.692G>T (p.Arg231Leu)
9g.137762742G>ACA467873888EHMT1c.1569G>A (p.Arg523=)
c.1455G>A (p.Arg485=)
c.1476G>A (p.Arg492=)
c.1609G>A (n.1609G>A)
c.1514G>A
c.1196G>A
c.738G>A (p.Arg246=)
c.*1304G>A (n.*1304G>A)
c.426G>A (p.Arg142=)
c.261G>A (p.Arg87=)
c.662G>A
c.1560G>A (p.Arg520=)
c.1551G>A (p.Arg517=)
c.1578G>A (p.Arg526=)
c.1575G>A (p.Arg525=)
c.1557G>A (p.Arg519=)
c.1500G>A (p.Arg500=)
c.-1G>A (n.-1G>A)
c.1548G>A (p.Arg516=)
c.1554G>A (p.Arg518=)
c.1470G>A (p.Arg490=)
c.1398G>A (p.Arg466=)
c.693G>A (p.Arg231=)
 dbSNP
9g.137762742G>CCA467873889EHMT1c.1569G>C (p.Arg523=)
c.1455G>C (p.Arg485=)
c.1476G>C (p.Arg492=)
c.1609G>C (n.1609G>C)
c.1514G>C
c.1196G>C
c.738G>C (p.Arg246=)
c.*1304G>C (n.*1304G>C)
c.426G>C (p.Arg142=)
c.261G>C (p.Arg87=)
c.662G>C
c.1560G>C (p.Arg520=)
c.1551G>C (p.Arg517=)
c.1578G>C (p.Arg526=)
c.1575G>C (p.Arg525=)
c.1557G>C (p.Arg519=)
c.1500G>C (p.Arg500=)
c.-1G>C (n.-1G>C)
c.1548G>C (p.Arg516=)
c.1554G>C (p.Arg518=)
c.1470G>C (p.Arg490=)
c.1398G>C (p.Arg466=)
c.693G>C (p.Arg231=)
9g.137762742G=CA1884659575EHMT1c.1569G= (p.Arg523=)
c.1455G= (p.Arg485=)
c.1476G= (p.Arg492=)
c.1609G= (n.1609G=)
c.1514G=
c.1196G=
c.738G= (p.Arg246=)
c.*1304G= (n.*1304G=)
c.426G= (p.Arg142=)
c.261G= (p.Arg87=)
c.662G=
c.1560G= (p.Arg520=)
c.1551G= (p.Arg517=)
c.1578G= (p.Arg526=)
c.1575G= (p.Arg525=)
c.1557G= (p.Arg519=)
c.1500G= (p.Arg500=)
c.-1G= (n.-1G=)
c.1548G= (p.Arg516=)
c.1554G= (p.Arg518=)
c.1470G= (p.Arg490=)
c.1398G= (p.Arg466=)
c.693G= (p.Arg231=)
9g.137762742G>TCA467873890EHMT1c.1569G>T (p.Arg523=)
c.1455G>T (p.Arg485=)
c.1476G>T (p.Arg492=)
c.1609G>T (n.1609G>T)
c.1514G>T
c.1196G>T
c.738G>T (p.Arg246=)
c.*1304G>T (n.*1304G>T)
c.426G>T (p.Arg142=)
c.261G>T (p.Arg87=)
c.662G>T
c.1560G>T (p.Arg520=)
c.1551G>T (p.Arg517=)
c.1578G>T (p.Arg526=)
c.1575G>T (p.Arg525=)
c.1557G>T (p.Arg519=)
c.1500G>T (p.Arg500=)
c.-1G>T (n.-1G>T)
c.1548G>T (p.Arg516=)
c.1554G>T (p.Arg518=)
c.1470G>T (p.Arg490=)
c.1398G>T (p.Arg466=)
c.693G>T (p.Arg231=)
 dbSNP
9g.137762743A>CCA375769151EHMT1c.1570A>C (p.Met524Leu)
c.1456A>C (p.Met486Leu)
c.1477A>C (p.Met493Leu)
c.1610A>C (n.1610A>C)
c.1515A>C
c.1197A>C
c.739A>C (p.Met247Leu)
c.*1305A>C (n.*1305A>C)
c.427A>C (p.Met143Leu)
c.262A>C (p.Met88Leu)
c.663A>C
c.1561A>C (p.Met521Leu)
c.1552A>C (p.Met518Leu)
c.1579A>C (p.Met527Leu)
c.1576A>C (p.Met526Leu)
c.1558A>C (p.Met520Leu)
c.1501A>C (p.Met501Leu)
c.1A>C (p.Met1Leu)
c.1549A>C (p.Met517Leu)
c.1555A>C (p.Met519Leu)
c.1471A>C (p.Met491Leu)
c.1399A>C (p.Met467Leu)
c.694A>C (p.Met232Leu)
 gnomAD v4
9g.137762743A>GCA375769159EHMT1c.1570A>G (p.Met524Val)
c.1456A>G (p.Met486Val)
c.1477A>G (p.Met493Val)
c.1610A>G (n.1610A>G)
c.1515A>G
c.1197A>G
c.739A>G (p.Met247Val)
c.*1305A>G (n.*1305A>G)
c.427A>G (p.Met143Val)
c.262A>G (p.Met88Val)
c.663A>G
c.1561A>G (p.Met521Val)
c.1552A>G (p.Met518Val)
c.1579A>G (p.Met527Val)
c.1576A>G (p.Met526Val)
c.1558A>G (p.Met520Val)
c.1501A>G (p.Met501Val)
c.1A>G (p.Met1Val)
c.1549A>G (p.Met517Val)
c.1555A>G (p.Met519Val)
c.1471A>G (p.Met491Val)
c.1399A>G (p.Met467Val)
c.694A>G (p.Met232Val)
9g.137762743A>TCA375769162EHMT1c.1570A>T (p.Met524Leu)
c.1456A>T (p.Met486Leu)
c.1477A>T (p.Met493Leu)
c.1610A>T (n.1610A>T)
c.1515A>T
c.1197A>T
c.739A>T (p.Met247Leu)
c.*1305A>T (n.*1305A>T)
c.427A>T (p.Met143Leu)
c.262A>T (p.Met88Leu)
c.663A>T
c.1561A>T (p.Met521Leu)
c.1552A>T (p.Met518Leu)
c.1579A>T (p.Met527Leu)
c.1576A>T (p.Met526Leu)
c.1558A>T (p.Met520Leu)
c.1501A>T (p.Met501Leu)
c.1A>T (p.Met1Leu)
c.1549A>T (p.Met517Leu)
c.1555A>T (p.Met519Leu)
c.1471A>T (p.Met491Leu)
c.1399A>T (p.Met467Leu)
c.694A>T (p.Met232Leu)
 ClinVar dbSNP
9g.137762744T>ACA375769184EHMT1c.1571T>A (p.Met524Lys)
c.1457T>A (p.Met486Lys)
c.1478T>A (p.Met493Lys)
c.1611T>A (n.1611T>A)
c.1516T>A
c.1198T>A
c.740T>A (p.Met247Lys)
c.*1306T>A (n.*1306T>A)
c.428T>A (p.Met143Lys)
c.263T>A (p.Met88Lys)
c.664T>A
c.1562T>A (p.Met521Lys)
c.1553T>A (p.Met518Lys)
c.1580T>A (p.Met527Lys)
c.1577T>A (p.Met526Lys)
c.1559T>A (p.Met520Lys)
c.1502T>A (p.Met501Lys)
c.2T>A (p.Met1Lys)
c.1550T>A (p.Met517Lys)
c.1556T>A (p.Met519Lys)
c.1472T>A (p.Met491Lys)
c.1400T>A (p.Met467Lys)
c.695T>A (p.Met232Lys)
9g.137762744T>CCA375769180EHMT1c.1571T>C (p.Met524Thr)
c.1457T>C (p.Met486Thr)
c.1478T>C (p.Met493Thr)
c.1611T>C (n.1611T>C)
c.1516T>C
c.1198T>C
c.740T>C (p.Met247Thr)
c.*1306T>C (n.*1306T>C)
c.428T>C (p.Met143Thr)
c.263T>C (p.Met88Thr)
c.664T>C
c.1562T>C (p.Met521Thr)
c.1553T>C (p.Met518Thr)
c.1580T>C (p.Met527Thr)
c.1577T>C (p.Met526Thr)
c.1559T>C (p.Met520Thr)
c.1502T>C (p.Met501Thr)
c.2T>C (p.Met1Thr)
c.1550T>C (p.Met517Thr)
c.1556T>C (p.Met519Thr)
c.1472T>C (p.Met491Thr)
c.1400T>C (p.Met467Thr)
c.695T>C (p.Met232Thr)
9g.137762744T>GCA375769176EHMT1c.1571T>G (p.Met524Arg)
c.1457T>G (p.Met486Arg)
c.1478T>G (p.Met493Arg)
c.1611T>G (n.1611T>G)
c.1516T>G
c.1198T>G
c.740T>G (p.Met247Arg)
c.*1306T>G (n.*1306T>G)
c.428T>G (p.Met143Arg)
c.263T>G (p.Met88Arg)
c.664T>G
c.1562T>G (p.Met521Arg)
c.1553T>G (p.Met518Arg)
c.1580T>G (p.Met527Arg)
c.1577T>G (p.Met526Arg)
c.1559T>G (p.Met520Arg)
c.1502T>G (p.Met501Arg)
c.2T>G (p.Met1Arg)
c.1550T>G (p.Met517Arg)
c.1556T>G (p.Met519Arg)
c.1472T>G (p.Met491Arg)
c.1400T>G (p.Met467Arg)
c.695T>G (p.Met232Arg)
9g.137762745G>ACA375769190EHMT1c.1572G>A (p.Met524Ile)
c.1458G>A (p.Met486Ile)
c.1479G>A (p.Met493Ile)
c.1612G>A (n.1612G>A)
c.1517G>A
c.1199G>A
c.741G>A (p.Met247Ile)
c.*1307G>A (n.*1307G>A)
c.429G>A (p.Met143Ile)
c.264G>A (p.Met88Ile)
c.665G>A
c.1563G>A (p.Met521Ile)
c.1554G>A (p.Met518Ile)
c.1581G>A (p.Met527Ile)
c.1578G>A (p.Met526Ile)
c.1560G>A (p.Met520Ile)
c.1503G>A (p.Met501Ile)
c.3G>A (p.Met1Ile)
c.1551G>A (p.Met517Ile)
c.1557G>A (p.Met519Ile)
c.1473G>A (p.Met491Ile)
c.1401G>A (p.Met467Ile)
c.696G>A (p.Met232Ile)
 gnomAD v4
9g.137762745G>CCA375769193EHMT1c.1572G>C (p.Met524Ile)
c.1458G>C (p.Met486Ile)
c.1479G>C (p.Met493Ile)
c.1612G>C (n.1612G>C)
c.1517G>C
c.1199G>C
c.741G>C (p.Met247Ile)
c.*1307G>C (n.*1307G>C)
c.429G>C (p.Met143Ile)
c.264G>C (p.Met88Ile)
c.665G>C
c.1563G>C (p.Met521Ile)
c.1554G>C (p.Met518Ile)
c.1581G>C (p.Met527Ile)
c.1578G>C (p.Met526Ile)
c.1560G>C (p.Met520Ile)
c.1503G>C (p.Met501Ile)
c.3G>C (p.Met1Ile)
c.1551G>C (p.Met517Ile)
c.1557G>C (p.Met519Ile)
c.1473G>C (p.Met491Ile)
c.1401G>C (p.Met467Ile)
c.696G>C (p.Met232Ile)
9g.137762745G>TCA375769197EHMT1c.1572G>T (p.Met524Ile)
c.1458G>T (p.Met486Ile)
c.1479G>T (p.Met493Ile)
c.1612G>T (n.1612G>T)
c.1517G>T
c.1199G>T
c.741G>T (p.Met247Ile)
c.*1307G>T (n.*1307G>T)
c.429G>T (p.Met143Ile)
c.264G>T (p.Met88Ile)
c.665G>T
c.1563G>T (p.Met521Ile)
c.1554G>T (p.Met518Ile)
c.1581G>T (p.Met527Ile)
c.1578G>T (p.Met526Ile)
c.1560G>T (p.Met520Ile)
c.1503G>T (p.Met501Ile)
c.3G>T (p.Met1Ile)
c.1551G>T (p.Met517Ile)
c.1557G>T (p.Met519Ile)
c.1473G>T (p.Met491Ile)
c.1401G>T (p.Met467Ile)
c.696G>T (p.Met232Ile)
9g.137762746G>ACA375769199EHMT1c.1573G>A (p.Glu525Lys)
c.1459G>A (p.Glu487Lys)
c.1480G>A (p.Glu494Lys)
c.1613G>A (n.1613G>A)
c.1518G>A
c.1200G>A
c.742G>A (p.Glu248Lys)
c.*1308G>A (n.*1308G>A)
c.430G>A (p.Glu144Lys)
c.265G>A (p.Glu89Lys)
c.666G>A
c.1564G>A (p.Glu522Lys)
c.1555G>A (p.Glu519Lys)
c.1582G>A (p.Glu528Lys)
c.1579G>A (p.Glu527Lys)
c.1561G>A (p.Glu521Lys)
c.1504G>A (p.Glu502Lys)
c.4G>A (p.Glu2Lys)
c.1552G>A (p.Glu518Lys)
c.1558G>A (p.Glu520Lys)
c.1474G>A (p.Glu492Lys)
c.1402G>A (p.Glu468Lys)
c.697G>A (p.Glu233Lys)
9g.137762746G>CCA375769202EHMT1c.1573G>C (p.Glu525Gln)
c.1459G>C (p.Glu487Gln)
c.1480G>C (p.Glu494Gln)
c.1613G>C (n.1613G>C)
c.1518G>C
c.1200G>C
c.742G>C (p.Glu248Gln)
c.*1308G>C (n.*1308G>C)
c.430G>C (p.Glu144Gln)
c.265G>C (p.Glu89Gln)
c.666G>C
c.1564G>C (p.Glu522Gln)
c.1555G>C (p.Glu519Gln)
c.1582G>C (p.Glu528Gln)
c.1579G>C (p.Glu527Gln)
c.1561G>C (p.Glu521Gln)
c.1504G>C (p.Glu502Gln)
c.4G>C (p.Glu2Gln)
c.1552G>C (p.Glu518Gln)
c.1558G>C (p.Glu520Gln)
c.1474G>C (p.Glu492Gln)
c.1402G>C (p.Glu468Gln)
c.697G>C (p.Glu233Gln)
9g.137762746G>TCA375769204EHMT1c.1573G>T (p.Glu525Ter)
c.1459G>T (p.Glu487Ter)
c.1480G>T (p.Glu494Ter)
c.1613G>T (n.1613G>T)
c.1518G>T
c.1200G>T
c.742G>T (p.Glu248Ter)
c.*1308G>T (n.*1308G>T)
c.430G>T (p.Glu144Ter)
c.265G>T (p.Glu89Ter)
c.666G>T
c.1564G>T (p.Glu522Ter)
c.1555G>T (p.Glu519Ter)
c.1582G>T (p.Glu528Ter)
c.1579G>T (p.Glu527Ter)
c.1561G>T (p.Glu521Ter)
c.1504G>T (p.Glu502Ter)
c.4G>T (p.Glu2Ter)
c.1552G>T (p.Glu518Ter)
c.1558G>T (p.Glu520Ter)
c.1474G>T (p.Glu492Ter)
c.1402G>T (p.Glu468Ter)
c.697G>T (p.Glu233Ter)
9g.137762747A>CCA375769205EHMT1c.1574A>C (p.Glu525Ala)
c.1460A>C (p.Glu487Ala)
c.1481A>C (p.Glu494Ala)
c.1614A>C (n.1614A>C)
c.1519A>C
c.1201A>C
c.743A>C (p.Glu248Ala)
c.*1309A>C (n.*1309A>C)
c.431A>C (p.Glu144Ala)
c.266A>C (p.Glu89Ala)
c.667A>C
c.1565A>C (p.Glu522Ala)
c.1556A>C (p.Glu519Ala)
c.1583A>C (p.Glu528Ala)
c.1580A>C (p.Glu527Ala)
c.1562A>C (p.Glu521Ala)
c.1505A>C (p.Glu502Ala)
c.5A>C (p.Glu2Ala)
c.1553A>C (p.Glu518Ala)
c.1559A>C (p.Glu520Ala)
c.1475A>C (p.Glu492Ala)
c.1403A>C (p.Glu468Ala)
c.698A>C (p.Glu233Ala)
9g.137762747A>GCA375769219EHMT1c.1574A>G (p.Glu525Gly)
c.1460A>G (p.Glu487Gly)
c.1481A>G (p.Glu494Gly)
c.1614A>G (n.1614A>G)
c.1519A>G
c.1201A>G
c.743A>G (p.Glu248Gly)
c.*1309A>G (n.*1309A>G)
c.431A>G (p.Glu144Gly)
c.266A>G (p.Glu89Gly)
c.667A>G
c.1565A>G (p.Glu522Gly)
c.1556A>G (p.Glu519Gly)
c.1583A>G (p.Glu528Gly)
c.1580A>G (p.Glu527Gly)
c.1562A>G (p.Glu521Gly)
c.1505A>G (p.Glu502Gly)
c.5A>G (p.Glu2Gly)
c.1553A>G (p.Glu518Gly)
c.1559A>G (p.Glu520Gly)
c.1475A>G (p.Glu492Gly)
c.1403A>G (p.Glu468Gly)
c.698A>G (p.Glu233Gly)
9g.137762747A>TCA375769208EHMT1c.1574A>T (p.Glu525Val)
c.1460A>T (p.Glu487Val)
c.1481A>T (p.Glu494Val)
c.1614A>T (n.1614A>T)
c.1519A>T
c.1201A>T
c.743A>T (p.Glu248Val)
c.*1309A>T (n.*1309A>T)
c.431A>T (p.Glu144Val)
c.266A>T (p.Glu89Val)
c.667A>T
c.1565A>T (p.Glu522Val)
c.1556A>T (p.Glu519Val)
c.1583A>T (p.Glu528Val)
c.1580A>T (p.Glu527Val)
c.1562A>T (p.Glu521Val)
c.1505A>T (p.Glu502Val)
c.5A>T (p.Glu2Val)
c.1553A>T (p.Glu518Val)
c.1559A>T (p.Glu520Val)
c.1475A>T (p.Glu492Val)
c.1403A>T (p.Glu468Val)
c.698A>T (p.Glu233Val)
9g.137762748A>CCA375769225EHMT1c.1575A>C (p.Glu525Asp)
c.1461A>C (p.Glu487Asp)
c.1482A>C (p.Glu494Asp)
c.1615A>C (n.1615A>C)
c.1520A>C
c.1202A>C
c.744A>C (p.Glu248Asp)
c.*1310A>C (n.*1310A>C)
c.432A>C (p.Glu144Asp)
c.267A>C (p.Glu89Asp)
c.668A>C
c.1566A>C (p.Glu522Asp)
c.1557A>C (p.Glu519Asp)
c.1584A>C (p.Glu528Asp)
c.1581A>C (p.Glu527Asp)
c.1563A>C (p.Glu521Asp)
c.1506A>C (p.Glu502Asp)
c.6A>C (p.Glu2Asp)
c.1554A>C (p.Glu518Asp)
c.1560A>C (p.Glu520Asp)
c.1476A>C (p.Glu492Asp)
c.1404A>C (p.Glu468Asp)
c.699A>C (p.Glu233Asp)
9g.137762748A>GCA467873891EHMT1c.1575A>G (p.Glu525=)
c.1461A>G (p.Glu487=)
c.1482A>G (p.Glu494=)
c.1615A>G (n.1615A>G)
c.1520A>G
c.1202A>G
c.744A>G (p.Glu248=)
c.*1310A>G (n.*1310A>G)
c.432A>G (p.Glu144=)
c.267A>G (p.Glu89=)
c.668A>G
c.1566A>G (p.Glu522=)
c.1557A>G (p.Glu519=)
c.1584A>G (p.Glu528=)
c.1581A>G (p.Glu527=)
c.1563A>G (p.Glu521=)
c.1506A>G (p.Glu502=)
c.6A>G (p.Glu2=)
c.1554A>G (p.Glu518=)
c.1560A>G (p.Glu520=)
c.1476A>G (p.Glu492=)
c.1404A>G (p.Glu468=)
c.699A>G (p.Glu233=)
9g.137762748A>TCA375769229EHMT1c.1575A>T (p.Glu525Asp)
c.1461A>T (p.Glu487Asp)
c.1482A>T (p.Glu494Asp)
c.1615A>T (n.1615A>T)
c.1520A>T
c.1202A>T
c.744A>T (p.Glu248Asp)
c.*1310A>T (n.*1310A>T)
c.432A>T (p.Glu144Asp)
c.267A>T (p.Glu89Asp)
c.668A>T
c.1566A>T (p.Glu522Asp)
c.1557A>T (p.Glu519Asp)
c.1584A>T (p.Glu528Asp)
c.1581A>T (p.Glu527Asp)
c.1563A>T (p.Glu521Asp)
c.1506A>T (p.Glu502Asp)
c.6A>T (p.Glu2Asp)
c.1554A>T (p.Glu518Asp)
c.1560A>T (p.Glu520Asp)
c.1476A>T (p.Glu492Asp)
c.1404A>T (p.Glu468Asp)
c.699A>T (p.Glu233Asp)
9g.137762749A=CA1884659576EHMT1c.1576A= (p.Thr526=)
c.1462A= (p.Thr488=)
c.1483A= (p.Thr495=)
c.1616A= (n.1616A=)
c.1521A=
c.1203A=
c.745A= (p.Thr249=)
c.*1311A= (n.*1311A=)
c.433A= (p.Thr145=)
c.268A= (p.Thr90=)
c.669A=
c.1567A= (p.Thr523=)
c.1558A= (p.Thr520=)
c.1585A= (p.Thr529=)
c.1582A= (p.Thr528=)
c.1564A= (p.Thr522=)
c.1507A= (p.Thr503=)
c.7A= (p.Thr3=)
c.1555A= (p.Thr519=)
c.1561A= (p.Thr521=)
c.1477A= (p.Thr493=)
c.1405A= (p.Thr469=)
c.700A= (p.Thr234=)
9g.137762749A>CCA375769230EHMT1c.1576A>C (p.Thr526Pro)
c.1462A>C (p.Thr488Pro)
c.1483A>C (p.Thr495Pro)
c.1616A>C (n.1616A>C)
c.1521A>C
c.1203A>C
c.745A>C (p.Thr249Pro)
c.*1311A>C (n.*1311A>C)
c.433A>C (p.Thr145Pro)
c.268A>C (p.Thr90Pro)
c.669A>C
c.1567A>C (p.Thr523Pro)
c.1558A>C (p.Thr520Pro)
c.1585A>C (p.Thr529Pro)
c.1582A>C (p.Thr528Pro)
c.1564A>C (p.Thr522Pro)
c.1507A>C (p.Thr503Pro)
c.7A>C (p.Thr3Pro)
c.1555A>C (p.Thr519Pro)
c.1561A>C (p.Thr521Pro)
c.1477A>C (p.Thr493Pro)
c.1405A>C (p.Thr469Pro)
c.700A>C (p.Thr234Pro)
9g.137762749A>GCA5374665EHMT1c.1576A>G (p.Thr526Ala)
c.1462A>G (p.Thr488Ala)
c.1483A>G (p.Thr495Ala)
c.1616A>G (n.1616A>G)
c.1521A>G
c.1203A>G
c.745A>G (p.Thr249Ala)
c.*1311A>G (n.*1311A>G)
c.433A>G (p.Thr145Ala)
c.268A>G (p.Thr90Ala)
c.669A>G
c.1567A>G (p.Thr523Ala)
c.1558A>G (p.Thr520Ala)
c.1585A>G (p.Thr529Ala)
c.1582A>G (p.Thr528Ala)
c.1564A>G (p.Thr522Ala)
c.1507A>G (p.Thr503Ala)
c.7A>G (p.Thr3Ala)
c.1555A>G (p.Thr519Ala)
c.1561A>G (p.Thr521Ala)
c.1477A>G (p.Thr493Ala)
c.1405A>G (p.Thr469Ala)
c.700A>G (p.Thr234Ala)
 dbSNP ExAC
9g.137762749A>TCA375769231EHMT1c.1576A>T (p.Thr526Ser)
c.1462A>T (p.Thr488Ser)
c.1483A>T (p.Thr495Ser)
c.1616A>T (n.1616A>T)
c.1521A>T
c.1203A>T
c.745A>T (p.Thr249Ser)
c.*1311A>T (n.*1311A>T)
c.433A>T (p.Thr145Ser)
c.268A>T (p.Thr90Ser)
c.669A>T
c.1567A>T (p.Thr523Ser)
c.1558A>T (p.Thr520Ser)
c.1585A>T (p.Thr529Ser)
c.1582A>T (p.Thr528Ser)
c.1564A>T (p.Thr522Ser)
c.1507A>T (p.Thr503Ser)
c.7A>T (p.Thr3Ser)
c.1555A>T (p.Thr519Ser)
c.1561A>T (p.Thr521Ser)
c.1477A>T (p.Thr493Ser)
c.1405A>T (p.Thr469Ser)
c.700A>T (p.Thr234Ser)
9g.137762750C>ACA375769232EHMT1c.1577C>A (p.Thr526Lys)
c.1463C>A (p.Thr488Lys)
c.1484C>A (p.Thr495Lys)
c.1617C>A (n.1617C>A)
c.1522C>A
c.1204C>A
c.746C>A (p.Thr249Lys)
c.*1312C>A (n.*1312C>A)
c.434C>A (p.Thr145Lys)
c.269C>A (p.Thr90Lys)
c.670C>A
c.1568C>A (p.Thr523Lys)
c.1559C>A (p.Thr520Lys)
c.1586C>A (p.Thr529Lys)
c.1583C>A (p.Thr528Lys)
c.1565C>A (p.Thr522Lys)
c.1508C>A (p.Thr503Lys)
c.8C>A (p.Thr3Lys)
c.1556C>A (p.Thr519Lys)
c.1562C>A (p.Thr521Lys)
c.1478C>A (p.Thr493Lys)
c.1406C>A (p.Thr469Lys)
c.701C>A (p.Thr234Lys)
9g.137762750C>GCA375769236EHMT1c.1577C>G (p.Thr526Arg)
c.1463C>G (p.Thr488Arg)
c.1484C>G (p.Thr495Arg)
c.1617C>G (n.1617C>G)
c.1522C>G
c.1204C>G
c.746C>G (p.Thr249Arg)
c.*1312C>G (n.*1312C>G)
c.434C>G (p.Thr145Arg)
c.269C>G (p.Thr90Arg)
c.670C>G
c.1568C>G (p.Thr523Arg)
c.1559C>G (p.Thr520Arg)
c.1586C>G (p.Thr529Arg)
c.1583C>G (p.Thr528Arg)
c.1565C>G (p.Thr522Arg)
c.1508C>G (p.Thr503Arg)
c.8C>G (p.Thr3Arg)
c.1556C>G (p.Thr519Arg)
c.1562C>G (p.Thr521Arg)
c.1478C>G (p.Thr493Arg)
c.1406C>G (p.Thr469Arg)
c.701C>G (p.Thr234Arg)
9g.137762750C>TCA375769246EHMT1c.1577C>T (p.Thr526Ile)
c.1463C>T (p.Thr488Ile)
c.1484C>T (p.Thr495Ile)
c.1617C>T (n.1617C>T)
c.1522C>T
c.1204C>T
c.746C>T (p.Thr249Ile)
c.*1312C>T (n.*1312C>T)
c.434C>T (p.Thr145Ile)
c.269C>T (p.Thr90Ile)
c.670C>T
c.1568C>T (p.Thr523Ile)
c.1559C>T (p.Thr520Ile)
c.1586C>T (p.Thr529Ile)
c.1583C>T (p.Thr528Ile)
c.1565C>T (p.Thr522Ile)
c.1508C>T (p.Thr503Ile)
c.8C>T (p.Thr3Ile)
c.1556C>T (p.Thr519Ile)
c.1562C>T (p.Thr521Ile)
c.1478C>T (p.Thr493Ile)
c.1406C>T (p.Thr469Ile)
c.701C>T (p.Thr234Ile)
9g.137762751A>CCA467873892EHMT1c.1578A>C (p.Thr526=)
c.1464A>C (p.Thr488=)
c.1485A>C (p.Thr495=)
c.1618A>C (n.1618A>C)
c.1523A>C
c.1205A>C
c.747A>C (p.Thr249=)
c.*1313A>C (n.*1313A>C)
c.435A>C (p.Thr145=)
c.270A>C (p.Thr90=)
c.671A>C
c.1569A>C (p.Thr523=)
c.1560A>C (p.Thr520=)
c.1587A>C (p.Thr529=)
c.1584A>C (p.Thr528=)
c.1566A>C (p.Thr522=)
c.1509A>C (p.Thr503=)
c.9A>C (p.Thr3=)
c.1557A>C (p.Thr519=)
c.1563A>C (p.Thr521=)
c.1479A>C (p.Thr493=)
c.1407A>C (p.Thr469=)
c.702A>C (p.Thr234=)
9g.137762751A>GCA467873893EHMT1c.1578A>G (p.Thr526=)
c.1464A>G (p.Thr488=)
c.1485A>G (p.Thr495=)
c.1618A>G (n.1618A>G)
c.1523A>G
c.1205A>G
c.747A>G (p.Thr249=)
c.*1313A>G (n.*1313A>G)
c.435A>G (p.Thr145=)
c.270A>G (p.Thr90=)
c.671A>G
c.1569A>G (p.Thr523=)
c.1560A>G (p.Thr520=)
c.1587A>G (p.Thr529=)
c.1584A>G (p.Thr528=)
c.1566A>G (p.Thr522=)
c.1509A>G (p.Thr503=)
c.9A>G (p.Thr3=)
c.1557A>G (p.Thr519=)
c.1563A>G (p.Thr521=)
c.1479A>G (p.Thr493=)
c.1407A>G (p.Thr469=)
c.702A>G (p.Thr234=)
 gnomAD v4
9g.137762751A>TCA467873894EHMT1c.1578A>T (p.Thr526=)
c.1464A>T (p.Thr488=)
c.1485A>T (p.Thr495=)
c.1618A>T (n.1618A>T)
c.1523A>T
c.1205A>T
c.747A>T (p.Thr249=)
c.*1313A>T (n.*1313A>T)
c.435A>T (p.Thr145=)
c.270A>T (p.Thr90=)
c.671A>T
c.1569A>T (p.Thr523=)
c.1560A>T (p.Thr520=)
c.1587A>T (p.Thr529=)
c.1584A>T (p.Thr528=)
c.1566A>T (p.Thr522=)
c.1509A>T (p.Thr503=)
c.9A>T (p.Thr3=)
c.1557A>T (p.Thr519=)
c.1563A>T (p.Thr521=)
c.1479A>T (p.Thr493=)
c.1407A>T (p.Thr469=)
c.702A>T (p.Thr234=)
9g.137762752C>ACA5374666EHMT1c.1579C>A (p.Pro527Thr)
c.1465C>A (p.Pro489Thr)
c.1486C>A (p.Pro496Thr)
c.1619C>A (n.1619C>A)
c.1524C>A
c.1206C>A
c.748C>A (p.Pro250Thr)
c.*1314C>A (n.*1314C>A)
c.436C>A (p.Pro146Thr)
c.271C>A (p.Pro91Thr)
c.672C>A
c.1570C>A (p.Pro524Thr)
c.1561C>A (p.Pro521Thr)
c.1588C>A (p.Pro530Thr)
c.1585C>A (p.Pro529Thr)
c.1567C>A (p.Pro523Thr)
c.1510C>A (p.Pro504Thr)
c.10C>A (p.Pro4Thr)
c.1558C>A (p.Pro520Thr)
c.1564C>A (p.Pro522Thr)
c.1480C>A (p.Pro494Thr)
c.1408C>A (p.Pro470Thr)
c.703C>A (p.Pro235Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762752C=CA1884659577EHMT1c.1579C= (p.Pro527=)
c.1465C= (p.Pro489=)
c.1486C= (p.Pro496=)
c.1619C= (n.1619C=)
c.1524C=
c.1206C=
c.748C= (p.Pro250=)
c.*1314C= (n.*1314C=)
c.436C= (p.Pro146=)
c.271C= (p.Pro91=)
c.672C=
c.1570C= (p.Pro524=)
c.1561C= (p.Pro521=)
c.1588C= (p.Pro530=)
c.1585C= (p.Pro529=)
c.1567C= (p.Pro523=)
c.1510C= (p.Pro504=)
c.10C= (p.Pro4=)
c.1558C= (p.Pro520=)
c.1564C= (p.Pro522=)
c.1480C= (p.Pro494=)
c.1408C= (p.Pro470=)
c.703C= (p.Pro235=)
9g.137762752C>GCA375769254EHMT1c.1579C>G (p.Pro527Ala)
c.1465C>G (p.Pro489Ala)
c.1486C>G (p.Pro496Ala)
c.1619C>G (n.1619C>G)
c.1524C>G
c.1206C>G
c.748C>G (p.Pro250Ala)
c.*1314C>G (n.*1314C>G)
c.436C>G (p.Pro146Ala)
c.271C>G (p.Pro91Ala)
c.672C>G
c.1570C>G (p.Pro524Ala)
c.1561C>G (p.Pro521Ala)
c.1588C>G (p.Pro530Ala)
c.1585C>G (p.Pro529Ala)
c.1567C>G (p.Pro523Ala)
c.1510C>G (p.Pro504Ala)
c.10C>G (p.Pro4Ala)
c.1558C>G (p.Pro520Ala)
c.1564C>G (p.Pro522Ala)
c.1480C>G (p.Pro494Ala)
c.1408C>G (p.Pro470Ala)
c.703C>G (p.Pro235Ala)
9g.137762752C>TCA375769256EHMT1c.1579C>T (p.Pro527Ser)
c.1465C>T (p.Pro489Ser)
c.1486C>T (p.Pro496Ser)
c.1619C>T (n.1619C>T)
c.1524C>T
c.1206C>T
c.748C>T (p.Pro250Ser)
c.*1314C>T (n.*1314C>T)
c.436C>T (p.Pro146Ser)
c.271C>T (p.Pro91Ser)
c.672C>T
c.1570C>T (p.Pro524Ser)
c.1561C>T (p.Pro521Ser)
c.1588C>T (p.Pro530Ser)
c.1585C>T (p.Pro529Ser)
c.1567C>T (p.Pro523Ser)
c.1510C>T (p.Pro504Ser)
c.10C>T (p.Pro4Ser)
c.1558C>T (p.Pro520Ser)
c.1564C>T (p.Pro522Ser)
c.1480C>T (p.Pro494Ser)
c.1408C>T (p.Pro470Ser)
c.703C>T (p.Pro235Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.137762753C>ACA375769260EHMT1c.1580C>A (p.Pro527Gln)
c.1466C>A (p.Pro489Gln)
c.1487C>A (p.Pro496Gln)
c.1620C>A (n.1620C>A)
c.1525C>A
c.1207C>A
c.749C>A (p.Pro250Gln)
c.*1315C>A (n.*1315C>A)
c.437C>A (p.Pro146Gln)
c.272C>A (p.Pro91Gln)
c.673C>A
c.1571C>A (p.Pro524Gln)
c.1562C>A (p.Pro521Gln)
c.1589C>A (p.Pro530Gln)
c.1586C>A (p.Pro529Gln)
c.1568C>A (p.Pro523Gln)
c.1511C>A (p.Pro504Gln)
c.11C>A (p.Pro4Gln)
c.1559C>A (p.Pro520Gln)
c.1565C>A (p.Pro522Gln)
c.1481C>A (p.Pro494Gln)
c.1409C>A (p.Pro470Gln)
c.704C>A (p.Pro235Gln)
9g.137762753C=CA1884659578EHMT1c.1580C= (p.Pro527=)
c.1466C= (p.Pro489=)
c.1487C= (p.Pro496=)
c.1620C= (n.1620C=)
c.1525C=
c.1207C=
c.749C= (p.Pro250=)
c.*1315C= (n.*1315C=)
c.437C= (p.Pro146=)
c.272C= (p.Pro91=)
c.673C=
c.1571C= (p.Pro524=)
c.1562C= (p.Pro521=)
c.1589C= (p.Pro530=)
c.1586C= (p.Pro529=)
c.1568C= (p.Pro523=)
c.1511C= (p.Pro504=)
c.11C= (p.Pro4=)
c.1559C= (p.Pro520=)
c.1565C= (p.Pro522=)
c.1481C= (p.Pro494=)
c.1409C= (p.Pro470=)
c.704C= (p.Pro235=)
9g.137762753C>GCA375769264EHMT1c.1580C>G (p.Pro527Arg)
c.1466C>G (p.Pro489Arg)
c.1487C>G (p.Pro496Arg)
c.1620C>G (n.1620C>G)
c.1525C>G
c.1207C>G
c.749C>G (p.Pro250Arg)
c.*1315C>G (n.*1315C>G)
c.437C>G (p.Pro146Arg)
c.272C>G (p.Pro91Arg)
c.673C>G
c.1571C>G (p.Pro524Arg)
c.1562C>G (p.Pro521Arg)
c.1589C>G (p.Pro530Arg)
c.1586C>G (p.Pro529Arg)
c.1568C>G (p.Pro523Arg)
c.1511C>G (p.Pro504Arg)
c.11C>G (p.Pro4Arg)
c.1559C>G (p.Pro520Arg)
c.1565C>G (p.Pro522Arg)
c.1481C>G (p.Pro494Arg)
c.1409C>G (p.Pro470Arg)
c.704C>G (p.Pro235Arg)
 gnomAD v4
9g.137762753C>TCA5374667EHMT1c.1580C>T (p.Pro527Leu)
c.1466C>T (p.Pro489Leu)
c.1487C>T (p.Pro496Leu)
c.1620C>T (n.1620C>T)
c.1525C>T
c.1207C>T
c.749C>T (p.Pro250Leu)
c.*1315C>T (n.*1315C>T)
c.437C>T (p.Pro146Leu)
c.272C>T (p.Pro91Leu)
c.673C>T
c.1571C>T (p.Pro524Leu)
c.1562C>T (p.Pro521Leu)
c.1589C>T (p.Pro530Leu)
c.1586C>T (p.Pro529Leu)
c.1568C>T (p.Pro523Leu)
c.1511C>T (p.Pro504Leu)
c.11C>T (p.Pro4Leu)
c.1559C>T (p.Pro520Leu)
c.1565C>T (p.Pro522Leu)
c.1481C>T (p.Pro494Leu)
c.1409C>T (p.Pro470Leu)
c.704C>T (p.Pro235Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137762756_137762763dupCA2692881776EHMT1c.1583_1590dup (p.Glu531ArgfsTer?)
c.1583_1590dup (p.Glu531ArgfsTer23)
c.1469_1476dup (p.Glu493ArgfsTer?)
c.1490_1497dup (p.Glu500ArgfsTer?)
c.1623_1630dup (n.1623_1630dup)
c.1528_1535dup
c.1210_1217dup
c.752_759dup (p.Glu254ArgfsTer?)
c.*1318_*1325dup (n.*1318_*1325dup)
c.440_447dup (p.Glu150ArgfsTer?)
c.275_282dup (p.Glu95ArgfsTer?)
c.676_683dup
c.1574_1581dup (p.Glu528ArgfsTer?)
c.1565_1572dup (p.Glu525ArgfsTer?)
c.1592_1599dup (p.Glu534ArgfsTer?)
c.1589_1596dup (p.Glu533ArgfsTer?)
c.1571_1578dup (p.Glu527ArgfsTer?)
c.1514_1521dup (p.Glu508ArgfsTer?)
c.14_21dup (p.Glu8ArgfsTer?)
c.1562_1569dup (p.Glu524ArgfsTer?)
c.1490_1497dup (p.Glu500ArgfsTer23)
c.1568_1575dup (p.Glu526ArgfsTer?)
c.1484_1491dup (p.Glu498ArgfsTer?)
c.1412_1419dup (p.Glu474ArgfsTer?)
c.707_714dup (p.Glu239ArgfsTer?)
 gnomAD v4
9g.137762754G>ACA5374668EHMT1c.1581G>A (p.Pro527=)
c.1467G>A (p.Pro489=)
c.1488G>A (p.Pro496=)
c.1621G>A (n.1621G>A)
c.1526G>A
c.1208G>A
c.750G>A (p.Pro250=)
c.*1316G>A (n.*1316G>A)
c.438G>A (p.Pro146=)
c.273G>A (p.Pro91=)
c.674G>A
c.1572G>A (p.Pro524=)
c.1563G>A (p.Pro521=)
c.1590G>A (p.Pro530=)
c.1587G>A (p.Pro529=)
c.1569G>A (p.Pro523=)
c.1512G>A (p.Pro504=)
c.12G>A (p.Pro4=)
c.1560G>A (p.Pro520=)
c.1566G>A (p.Pro522=)
c.1482G>A (p.Pro494=)
c.1410G>A (p.Pro470=)
c.705G>A (p.Pro235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762754G>CCA467873895EHMT1c.1581G>C (p.Pro527=)
c.1467G>C (p.Pro489=)
c.1488G>C (p.Pro496=)
c.1621G>C (n.1621G>C)
c.1526G>C
c.1208G>C
c.750G>C (p.Pro250=)
c.*1316G>C (n.*1316G>C)
c.438G>C (p.Pro146=)
c.273G>C (p.Pro91=)
c.674G>C
c.1572G>C (p.Pro524=)
c.1563G>C (p.Pro521=)
c.1590G>C (p.Pro530=)
c.1587G>C (p.Pro529=)
c.1569G>C (p.Pro523=)
c.1512G>C (p.Pro504=)
c.12G>C (p.Pro4=)
c.1560G>C (p.Pro520=)
c.1566G>C (p.Pro522=)
c.1482G>C (p.Pro494=)
c.1410G>C (p.Pro470=)
c.705G>C (p.Pro235=)
 gnomAD v4
9g.137762754G=CA1884659579EHMT1c.1581G= (p.Pro527=)
c.1467G= (p.Pro489=)
c.1488G= (p.Pro496=)
c.1621G= (n.1621G=)
c.1526G=
c.1208G=
c.750G= (p.Pro250=)
c.*1316G= (n.*1316G=)
c.438G= (p.Pro146=)
c.273G= (p.Pro91=)
c.674G=
c.1572G= (p.Pro524=)
c.1563G= (p.Pro521=)
c.1590G= (p.Pro530=)
c.1587G= (p.Pro529=)
c.1569G= (p.Pro523=)
c.1512G= (p.Pro504=)
c.12G= (p.Pro4=)
c.1560G= (p.Pro520=)
c.1566G= (p.Pro522=)
c.1482G= (p.Pro494=)
c.1410G= (p.Pro470=)
c.705G= (p.Pro235=)
9g.137762754G>TCA467873896EHMT1c.1581G>T (p.Pro527=)
c.1467G>T (p.Pro489=)
c.1488G>T (p.Pro496=)
c.1621G>T (n.1621G>T)
c.1526G>T
c.1208G>T
c.750G>T (p.Pro250=)
c.*1316G>T (n.*1316G>T)
c.438G>T (p.Pro146=)
c.273G>T (p.Pro91=)
c.674G>T
c.1572G>T (p.Pro524=)
c.1563G>T (p.Pro521=)
c.1590G>T (p.Pro530=)
c.1587G>T (p.Pro529=)
c.1569G>T (p.Pro523=)
c.1512G>T (p.Pro504=)
c.12G>T (p.Pro4=)
c.1560G>T (p.Pro520=)
c.1566G>T (p.Pro522=)
c.1482G>T (p.Pro494=)
c.1410G>T (p.Pro470=)
c.705G>T (p.Pro235=)
9g.137762755A>CCA375769270EHMT1c.1582A>C (p.Lys528Gln)
c.1468A>C (p.Lys490Gln)
c.1489A>C (p.Lys497Gln)
c.1622A>C (n.1622A>C)
c.1527A>C
c.1209A>C
c.751A>C (p.Lys251Gln)
c.*1317A>C (n.*1317A>C)
c.439A>C (p.Lys147Gln)
c.274A>C (p.Lys92Gln)
c.675A>C
c.1573A>C (p.Lys525Gln)
c.1564A>C (p.Lys522Gln)
c.1591A>C (p.Lys531Gln)
c.1588A>C (p.Lys530Gln)
c.1570A>C (p.Lys524Gln)
c.1513A>C (p.Lys505Gln)
c.13A>C (p.Lys5Gln)
c.1561A>C (p.Lys521Gln)
c.1567A>C (p.Lys523Gln)
c.1483A>C (p.Lys495Gln)
c.1411A>C (p.Lys471Gln)
c.706A>C (p.Lys236Gln)
9g.137762755A>GCA375769278EHMT1c.1582A>G (p.Lys528Glu)
c.1468A>G (p.Lys490Glu)
c.1489A>G (p.Lys497Glu)
c.1622A>G (n.1622A>G)
c.1527A>G
c.1209A>G
c.751A>G (p.Lys251Glu)
c.*1317A>G (n.*1317A>G)
c.439A>G (p.Lys147Glu)
c.274A>G (p.Lys92Glu)
c.675A>G
c.1573A>G (p.Lys525Glu)
c.1564A>G (p.Lys522Glu)
c.1591A>G (p.Lys531Glu)
c.1588A>G (p.Lys530Glu)
c.1570A>G (p.Lys524Glu)
c.1513A>G (p.Lys505Glu)
c.13A>G (p.Lys5Glu)
c.1561A>G (p.Lys521Glu)
c.1567A>G (p.Lys523Glu)
c.1483A>G (p.Lys495Glu)
c.1411A>G (p.Lys471Glu)
c.706A>G (p.Lys236Glu)
9g.137762755A>TCA375769281EHMT1c.1582A>T (p.Lys528Ter)
c.1468A>T (p.Lys490Ter)
c.1489A>T (p.Lys497Ter)
c.1622A>T (n.1622A>T)
c.1527A>T
c.1209A>T
c.751A>T (p.Lys251Ter)
c.*1317A>T (n.*1317A>T)
c.439A>T (p.Lys147Ter)
c.274A>T (p.Lys92Ter)
c.675A>T
c.1573A>T (p.Lys525Ter)
c.1564A>T (p.Lys522Ter)
c.1591A>T (p.Lys531Ter)
c.1588A>T (p.Lys530Ter)
c.1570A>T (p.Lys524Ter)
c.1513A>T (p.Lys505Ter)
c.13A>T (p.Lys5Ter)
c.1561A>T (p.Lys521Ter)
c.1567A>T (p.Lys523Ter)
c.1483A>T (p.Lys495Ter)
c.1411A>T (p.Lys471Ter)
c.706A>T (p.Lys236Ter)
9g.137762756A=CA1884659580EHMT1c.1583A= (p.Lys528=)
c.1469A= (p.Lys490=)
c.1490A= (p.Lys497=)
c.1623A= (n.1623A=)
c.1528A=
c.1210A=
c.752A= (p.Lys251=)
c.*1318A= (n.*1318A=)
c.440A= (p.Lys147=)
c.275A= (p.Lys92=)
c.676A=
c.1574A= (p.Lys525=)
c.1565A= (p.Lys522=)
c.1592A= (p.Lys531=)
c.1589A= (p.Lys530=)
c.1571A= (p.Lys524=)
c.1514A= (p.Lys505=)
c.14A= (p.Lys5=)
c.1562A= (p.Lys521=)
c.1568A= (p.Lys523=)
c.1484A= (p.Lys495=)
c.1412A= (p.Lys471=)
c.707A= (p.Lys236=)
9g.137762756A>CCA375769283EHMT1c.1583A>C (p.Lys528Thr)
c.1469A>C (p.Lys490Thr)
c.1490A>C (p.Lys497Thr)
c.1623A>C (n.1623A>C)
c.1528A>C
c.1210A>C
c.752A>C (p.Lys251Thr)
c.*1318A>C (n.*1318A>C)
c.440A>C (p.Lys147Thr)
c.275A>C (p.Lys92Thr)
c.676A>C
c.1574A>C (p.Lys525Thr)
c.1565A>C (p.Lys522Thr)
c.1592A>C (p.Lys531Thr)
c.1589A>C (p.Lys530Thr)
c.1571A>C (p.Lys524Thr)
c.1514A>C (p.Lys505Thr)
c.14A>C (p.Lys5Thr)
c.1562A>C (p.Lys521Thr)
c.1568A>C (p.Lys523Thr)
c.1484A>C (p.Lys495Thr)
c.1412A>C (p.Lys471Thr)
c.707A>C (p.Lys236Thr)
9g.137762756A>GCA5374669EHMT1c.1583A>G (p.Lys528Arg)
c.1469A>G (p.Lys490Arg)
c.1490A>G (p.Lys497Arg)
c.1623A>G (n.1623A>G)
c.1528A>G
c.1210A>G
c.752A>G (p.Lys251Arg)
c.*1318A>G (n.*1318A>G)
c.440A>G (p.Lys147Arg)
c.275A>G (p.Lys92Arg)
c.676A>G
c.1574A>G (p.Lys525Arg)
c.1565A>G (p.Lys522Arg)
c.1592A>G (p.Lys531Arg)
c.1589A>G (p.Lys530Arg)
c.1571A>G (p.Lys524Arg)
c.1514A>G (p.Lys505Arg)
c.14A>G (p.Lys5Arg)
c.1562A>G (p.Lys521Arg)
c.1568A>G (p.Lys523Arg)
c.1484A>G (p.Lys495Arg)
c.1412A>G (p.Lys471Arg)
c.707A>G (p.Lys236Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762756A>TCA375769301EHMT1c.1583A>T (p.Lys528Met)
c.1469A>T (p.Lys490Met)
c.1490A>T (p.Lys497Met)
c.1623A>T (n.1623A>T)
c.1528A>T
c.1210A>T
c.752A>T (p.Lys251Met)
c.*1318A>T (n.*1318A>T)
c.440A>T (p.Lys147Met)
c.275A>T (p.Lys92Met)
c.676A>T
c.1574A>T (p.Lys525Met)
c.1565A>T (p.Lys522Met)
c.1592A>T (p.Lys531Met)
c.1589A>T (p.Lys530Met)
c.1571A>T (p.Lys524Met)
c.1514A>T (p.Lys505Met)
c.14A>T (p.Lys5Met)
c.1562A>T (p.Lys521Met)
c.1568A>T (p.Lys523Met)
c.1484A>T (p.Lys495Met)
c.1412A>T (p.Lys471Met)
c.707A>T (p.Lys236Met)
9g.137762757G>ACA467873897EHMT1c.1584G>A (p.Lys528=)
c.1470G>A (p.Lys490=)
c.1491G>A (p.Lys497=)
c.1624G>A (n.1624G>A)
c.1529G>A
c.1211G>A
c.753G>A (p.Lys251=)
c.*1319G>A (n.*1319G>A)
c.441G>A (p.Lys147=)
c.276G>A (p.Lys92=)
c.677G>A
c.1575G>A (p.Lys525=)
c.1566G>A (p.Lys522=)
c.1593G>A (p.Lys531=)
c.1590G>A (p.Lys530=)
c.1572G>A (p.Lys524=)
c.1515G>A (p.Lys505=)
c.15G>A (p.Lys5=)
c.1563G>A (p.Lys521=)
c.1569G>A (p.Lys523=)
c.1485G>A (p.Lys495=)
c.1413G>A (p.Lys471=)
c.708G>A (p.Lys236=)
 dbSNP gnomAD v4
9g.137762757G>CCA375769312EHMT1c.1584G>C (p.Lys528Asn)
c.1470G>C (p.Lys490Asn)
c.1491G>C (p.Lys497Asn)
c.1624G>C (n.1624G>C)
c.1529G>C
c.1211G>C
c.753G>C (p.Lys251Asn)
c.*1319G>C (n.*1319G>C)
c.441G>C (p.Lys147Asn)
c.276G>C (p.Lys92Asn)
c.677G>C
c.1575G>C (p.Lys525Asn)
c.1566G>C (p.Lys522Asn)
c.1593G>C (p.Lys531Asn)
c.1590G>C (p.Lys530Asn)
c.1572G>C (p.Lys524Asn)
c.1515G>C (p.Lys505Asn)
c.15G>C (p.Lys5Asn)
c.1563G>C (p.Lys521Asn)
c.1569G>C (p.Lys523Asn)
c.1485G>C (p.Lys495Asn)
c.1413G>C (p.Lys471Asn)
c.708G>C (p.Lys236Asn)
9g.137762757G=CA1884659581EHMT1c.1584G= (p.Lys528=)
c.1470G= (p.Lys490=)
c.1491G= (p.Lys497=)
c.1624G= (n.1624G=)
c.1529G=
c.1211G=
c.753G= (p.Lys251=)
c.*1319G= (n.*1319G=)
c.441G= (p.Lys147=)
c.276G= (p.Lys92=)
c.677G=
c.1575G= (p.Lys525=)
c.1566G= (p.Lys522=)
c.1593G= (p.Lys531=)
c.1590G= (p.Lys530=)
c.1572G= (p.Lys524=)
c.1515G= (p.Lys505=)
c.15G= (p.Lys5=)
c.1563G= (p.Lys521=)
c.1569G= (p.Lys523=)
c.1485G= (p.Lys495=)
c.1413G= (p.Lys471=)
c.708G= (p.Lys236=)
9g.137762757G>TCA375769317EHMT1c.1584G>T (p.Lys528Asn)
c.1470G>T (p.Lys490Asn)
c.1491G>T (p.Lys497Asn)
c.1624G>T (n.1624G>T)
c.1529G>T
c.1211G>T
c.753G>T (p.Lys251Asn)
c.*1319G>T (n.*1319G>T)
c.441G>T (p.Lys147Asn)
c.276G>T (p.Lys92Asn)
c.677G>T
c.1575G>T (p.Lys525Asn)
c.1566G>T (p.Lys522Asn)
c.1593G>T (p.Lys531Asn)
c.1590G>T (p.Lys530Asn)
c.1572G>T (p.Lys524Asn)
c.1515G>T (p.Lys505Asn)
c.15G>T (p.Lys5Asn)
c.1563G>T (p.Lys521Asn)
c.1569G>T (p.Lys523Asn)
c.1485G>T (p.Lys495Asn)
c.1413G>T (p.Lys471Asn)
c.708G>T (p.Lys236Asn)
9g.137762758delCA2695211833EHMT1c.1585del (p.Ser529ValfsTer?)
c.1585del (p.Ser529ValfsTer22)
c.1471del (p.Ser491ValfsTer?)
c.1492del (p.Ser498ValfsTer?)
c.1625del (n.1625del)
c.1530del
c.1212del
c.754del (p.Ser252ValfsTer?)
c.*1320del (n.*1320del)
c.442del (p.Ser148ValfsTer?)
c.277del (p.Ser93ValfsTer?)
c.678del
c.1576del (p.Ser526ValfsTer?)
c.1567del (p.Ser523ValfsTer?)
c.1594del (p.Ser532ValfsTer?)
c.1591del (p.Ser531ValfsTer?)
c.1573del (p.Ser525ValfsTer?)
c.1516del (p.Ser506ValfsTer?)
c.16del (p.Ser6ValfsTer?)
c.1564del (p.Ser522ValfsTer?)
c.1492del (p.Ser498ValfsTer22)
c.1570del (p.Ser524ValfsTer?)
c.1486del (p.Ser496ValfsTer?)
c.1414del (p.Ser472ValfsTer?)
c.709del (p.Ser237ValfsTer?)
9g.137762758A=CA1884659582EHMT1c.1585A= (p.Ser529=)
c.1471A= (p.Ser491=)
c.1492A= (p.Ser498=)
c.1625A= (n.1625A=)
c.1530A=
c.1212A=
c.754A= (p.Ser252=)
c.*1320A= (n.*1320A=)
c.442A= (p.Ser148=)
c.277A= (p.Ser93=)
c.678A=
c.1576A= (p.Ser526=)
c.1567A= (p.Ser523=)
c.1594A= (p.Ser532=)
c.1591A= (p.Ser531=)
c.1573A= (p.Ser525=)
c.1516A= (p.Ser506=)
c.16A= (p.Ser6=)
c.1564A= (p.Ser522=)
c.1570A= (p.Ser524=)
c.1486A= (p.Ser496=)
c.1414A= (p.Ser472=)
c.709A= (p.Ser237=)
9g.137762758A>CCA375769321EHMT1c.1585A>C (p.Ser529Arg)
c.1471A>C (p.Ser491Arg)
c.1492A>C (p.Ser498Arg)
c.1625A>C (n.1625A>C)
c.1530A>C
c.1212A>C
c.754A>C (p.Ser252Arg)
c.*1320A>C (n.*1320A>C)
c.442A>C (p.Ser148Arg)
c.277A>C (p.Ser93Arg)
c.678A>C
c.1576A>C (p.Ser526Arg)
c.1567A>C (p.Ser523Arg)
c.1594A>C (p.Ser532Arg)
c.1591A>C (p.Ser531Arg)
c.1573A>C (p.Ser525Arg)
c.1516A>C (p.Ser506Arg)
c.16A>C (p.Ser6Arg)
c.1564A>C (p.Ser522Arg)
c.1570A>C (p.Ser524Arg)
c.1486A>C (p.Ser496Arg)
c.1414A>C (p.Ser472Arg)
c.709A>C (p.Ser237Arg)
9g.137762758A>GCA5374670EHMT1c.1585A>G (p.Ser529Gly)
c.1471A>G (p.Ser491Gly)
c.1492A>G (p.Ser498Gly)
c.1625A>G (n.1625A>G)
c.1530A>G
c.1212A>G
c.754A>G (p.Ser252Gly)
c.*1320A>G (n.*1320A>G)
c.442A>G (p.Ser148Gly)
c.277A>G (p.Ser93Gly)
c.678A>G
c.1576A>G (p.Ser526Gly)
c.1567A>G (p.Ser523Gly)
c.1594A>G (p.Ser532Gly)
c.1591A>G (p.Ser531Gly)
c.1573A>G (p.Ser525Gly)
c.1516A>G (p.Ser506Gly)
c.16A>G (p.Ser6Gly)
c.1564A>G (p.Ser522Gly)
c.1570A>G (p.Ser524Gly)
c.1486A>G (p.Ser496Gly)
c.1414A>G (p.Ser472Gly)
c.709A>G (p.Ser237Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137762758A>TCA375769323EHMT1c.1585A>T (p.Ser529Cys)
c.1471A>T (p.Ser491Cys)
c.1492A>T (p.Ser498Cys)
c.1625A>T (n.1625A>T)
c.1530A>T
c.1212A>T
c.754A>T (p.Ser252Cys)
c.*1320A>T (n.*1320A>T)
c.442A>T (p.Ser148Cys)
c.277A>T (p.Ser93Cys)
c.678A>T
c.1576A>T (p.Ser526Cys)
c.1567A>T (p.Ser523Cys)
c.1594A>T (p.Ser532Cys)
c.1591A>T (p.Ser531Cys)
c.1573A>T (p.Ser525Cys)
c.1516A>T (p.Ser506Cys)
c.16A>T (p.Ser6Cys)
c.1564A>T (p.Ser522Cys)
c.1570A>T (p.Ser524Cys)
c.1486A>T (p.Ser496Cys)
c.1414A>T (p.Ser472Cys)
c.709A>T (p.Ser237Cys)
9g.137762759G>ACA375769327EHMT1c.1586G>A (p.Ser529Asn)
c.1472G>A (p.Ser491Asn)
c.1493G>A (p.Ser498Asn)
c.1626G>A (n.1626G>A)
c.1531G>A
c.1213G>A
c.755G>A (p.Ser252Asn)
c.*1321G>A (n.*1321G>A)
c.443G>A (p.Ser148Asn)
c.278G>A (p.Ser93Asn)
c.679G>A
c.1577G>A (p.Ser526Asn)
c.1568G>A (p.Ser523Asn)
c.1595G>A (p.Ser532Asn)
c.1592G>A (p.Ser531Asn)
c.1574G>A (p.Ser525Asn)
c.1517G>A (p.Ser506Asn)
c.17G>A (p.Ser6Asn)
c.1565G>A (p.Ser522Asn)
c.1571G>A (p.Ser524Asn)
c.1487G>A (p.Ser496Asn)
c.1415G>A (p.Ser472Asn)
c.710G>A (p.Ser237Asn)
9g.137762759G>CCA375769329EHMT1c.1586G>C (p.Ser529Thr)
c.1472G>C (p.Ser491Thr)
c.1493G>C (p.Ser498Thr)
c.1626G>C (n.1626G>C)
c.1531G>C
c.1213G>C
c.755G>C (p.Ser252Thr)
c.*1321G>C (n.*1321G>C)
c.443G>C (p.Ser148Thr)
c.278G>C (p.Ser93Thr)
c.679G>C
c.1577G>C (p.Ser526Thr)
c.1568G>C (p.Ser523Thr)
c.1595G>C (p.Ser532Thr)
c.1592G>C (p.Ser531Thr)
c.1574G>C (p.Ser525Thr)
c.1517G>C (p.Ser506Thr)
c.17G>C (p.Ser6Thr)
c.1565G>C (p.Ser522Thr)
c.1571G>C (p.Ser524Thr)
c.1487G>C (p.Ser496Thr)
c.1415G>C (p.Ser472Thr)
c.710G>C (p.Ser237Thr)
9g.137762759G=CA1884659583EHMT1c.1586G= (p.Ser529=)
c.1472G= (p.Ser491=)
c.1493G= (p.Ser498=)
c.1626G= (n.1626G=)
c.1531G=
c.1213G=
c.755G= (p.Ser252=)
c.*1321G= (n.*1321G=)
c.443G= (p.Ser148=)
c.278G= (p.Ser93=)
c.679G=
c.1577G= (p.Ser526=)
c.1568G= (p.Ser523=)
c.1595G= (p.Ser532=)
c.1592G= (p.Ser531=)
c.1574G= (p.Ser525=)
c.1517G= (p.Ser506=)
c.17G= (p.Ser6=)
c.1565G= (p.Ser522=)
c.1571G= (p.Ser524=)
c.1487G= (p.Ser496=)
c.1415G= (p.Ser472=)
c.710G= (p.Ser237=)
9g.137762759G>TCA375769335EHMT1c.1586G>T (p.Ser529Ile)
c.1472G>T (p.Ser491Ile)
c.1493G>T (p.Ser498Ile)
c.1626G>T (n.1626G>T)
c.1531G>T
c.1213G>T
c.755G>T (p.Ser252Ile)
c.*1321G>T (n.*1321G>T)
c.443G>T (p.Ser148Ile)
c.278G>T (p.Ser93Ile)
c.679G>T
c.1577G>T (p.Ser526Ile)
c.1568G>T (p.Ser523Ile)
c.1595G>T (p.Ser532Ile)
c.1592G>T (p.Ser531Ile)
c.1574G>T (p.Ser525Ile)
c.1517G>T (p.Ser506Ile)
c.17G>T (p.Ser6Ile)
c.1565G>T (p.Ser522Ile)
c.1571G>T (p.Ser524Ile)
c.1487G>T (p.Ser496Ile)
c.1415G>T (p.Ser472Ile)
c.710G>T (p.Ser237Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.137762760T>ACA375769338EHMT1c.1587T>A (p.Ser529Arg)
c.1473T>A (p.Ser491Arg)
c.1494T>A (p.Ser498Arg)
c.1627T>A (n.1627T>A)
c.1532T>A
c.1214T>A
c.756T>A (p.Ser252Arg)
c.*1322T>A (n.*1322T>A)
c.444T>A (p.Ser148Arg)
c.279T>A (p.Ser93Arg)
c.680T>A
c.1578T>A (p.Ser526Arg)
c.1569T>A (p.Ser523Arg)
c.1596T>A (p.Ser532Arg)
c.1593T>A (p.Ser531Arg)
c.1575T>A (p.Ser525Arg)
c.1518T>A (p.Ser506Arg)
c.18T>A (p.Ser6Arg)
c.1566T>A (p.Ser522Arg)
c.1572T>A (p.Ser524Arg)
c.1488T>A (p.Ser496Arg)
c.1416T>A (p.Ser472Arg)
c.711T>A (p.Ser237Arg)
9g.137762760T>CCA467873898EHMT1c.1587T>C (p.Ser529=)
c.1473T>C (p.Ser491=)
c.1494T>C (p.Ser498=)
c.1627T>C (n.1627T>C)
c.1532T>C
c.1214T>C
c.756T>C (p.Ser252=)
c.*1322T>C (n.*1322T>C)
c.444T>C (p.Ser148=)
c.279T>C (p.Ser93=)
c.680T>C
c.1578T>C (p.Ser526=)
c.1569T>C (p.Ser523=)
c.1596T>C (p.Ser532=)
c.1593T>C (p.Ser531=)
c.1575T>C (p.Ser525=)
c.1518T>C (p.Ser506=)
c.18T>C (p.Ser6=)
c.1566T>C (p.Ser522=)
c.1572T>C (p.Ser524=)
c.1488T>C (p.Ser496=)
c.1416T>C (p.Ser472=)
c.711T>C (p.Ser237=)
9g.137762760T>GCA375769342EHMT1c.1587T>G (p.Ser529Arg)
c.1473T>G (p.Ser491Arg)
c.1494T>G (p.Ser498Arg)
c.1627T>G (n.1627T>G)
c.1532T>G
c.1214T>G
c.756T>G (p.Ser252Arg)
c.*1322T>G (n.*1322T>G)
c.444T>G (p.Ser148Arg)
c.279T>G (p.Ser93Arg)
c.680T>G
c.1578T>G (p.Ser526Arg)
c.1569T>G (p.Ser523Arg)
c.1596T>G (p.Ser532Arg)
c.1593T>G (p.Ser531Arg)
c.1575T>G (p.Ser525Arg)
c.1518T>G (p.Ser506Arg)
c.18T>G (p.Ser6Arg)
c.1566T>G (p.Ser522Arg)
c.1572T>G (p.Ser524Arg)
c.1488T>G (p.Ser496Arg)
c.1416T>G (p.Ser472Arg)
c.711T>G (p.Ser237Arg)
9g.137762761C>ACA467873899EHMT1c.1588C>A (p.Arg530=)
c.1474C>A (p.Arg492=)
c.1495C>A (p.Arg499=)
c.1628C>A (n.1628C>A)
c.1533C>A
c.1215C>A
c.757C>A (p.Arg253=)
c.*1323C>A (n.*1323C>A)
c.445C>A (p.Arg149=)
c.280C>A (p.Arg94=)
c.681C>A
c.1579C>A (p.Arg527=)
c.1570C>A (p.Arg524=)
c.1597C>A (p.Arg533=)
c.1594C>A (p.Arg532=)
c.1576C>A (p.Arg526=)
c.1519C>A (p.Arg507=)
c.19C>A (p.Arg7=)
c.1567C>A (p.Arg523=)
c.1573C>A (p.Arg525=)
c.1489C>A (p.Arg497=)
c.1417C>A (p.Arg473=)
c.712C>A (p.Arg238=)
9g.137762761C=CA1884659584EHMT1c.1588C= (p.Arg530=)
c.1474C= (p.Arg492=)
c.1495C= (p.Arg499=)
c.1628C= (n.1628C=)
c.1533C=
c.1215C=
c.757C= (p.Arg253=)
c.*1323C= (n.*1323C=)
c.445C= (p.Arg149=)
c.280C= (p.Arg94=)
c.681C=
c.1579C= (p.Arg527=)
c.1570C= (p.Arg524=)
c.1597C= (p.Arg533=)
c.1594C= (p.Arg532=)
c.1576C= (p.Arg526=)
c.1519C= (p.Arg507=)
c.19C= (p.Arg7=)
c.1567C= (p.Arg523=)
c.1573C= (p.Arg525=)
c.1489C= (p.Arg497=)
c.1417C= (p.Arg473=)
c.712C= (p.Arg238=)
9g.137762761C>GCA375769347EHMT1c.1588C>G (p.Arg530Gly)
c.1474C>G (p.Arg492Gly)
c.1495C>G (p.Arg499Gly)
c.1628C>G (n.1628C>G)
c.1533C>G
c.1215C>G
c.757C>G (p.Arg253Gly)
c.*1323C>G (n.*1323C>G)
c.445C>G (p.Arg149Gly)
c.280C>G (p.Arg94Gly)
c.681C>G
c.1579C>G (p.Arg527Gly)
c.1570C>G (p.Arg524Gly)
c.1597C>G (p.Arg533Gly)
c.1594C>G (p.Arg532Gly)
c.1576C>G (p.Arg526Gly)
c.1519C>G (p.Arg507Gly)
c.19C>G (p.Arg7Gly)
c.1567C>G (p.Arg523Gly)
c.1573C>G (p.Arg525Gly)
c.1489C>G (p.Arg497Gly)
c.1417C>G (p.Arg473Gly)
c.712C>G (p.Arg238Gly)
9g.137762761C>TCA375769349EHMT1c.1588C>T (p.Arg530Ter)
c.1474C>T (p.Arg492Ter)
c.1495C>T (p.Arg499Ter)
c.1628C>T (n.1628C>T)
c.1533C>T
c.1215C>T
c.757C>T (p.Arg253Ter)
c.*1323C>T (n.*1323C>T)
c.445C>T (p.Arg149Ter)
c.280C>T (p.Arg94Ter)
c.681C>T
c.1579C>T (p.Arg527Ter)
c.1570C>T (p.Arg524Ter)
c.1597C>T (p.Arg533Ter)
c.1594C>T (p.Arg532Ter)
c.1576C>T (p.Arg526Ter)
c.1519C>T (p.Arg507Ter)
c.19C>T (p.Arg7Ter)
c.1567C>T (p.Arg523Ter)
c.1573C>T (p.Arg525Ter)
c.1489C>T (p.Arg497Ter)
c.1417C>T (p.Arg473Ter)
c.712C>T (p.Arg238Ter)
 ClinVar dbSNP
9g.137762762G>ACA201792953EHMT1c.1589G>A (p.Arg530Gln)
c.1475G>A (p.Arg492Gln)
c.1496G>A (p.Arg499Gln)
c.1629G>A (n.1629G>A)
c.1534G>A
c.1216G>A
c.758G>A (p.Arg253Gln)
c.*1324G>A (n.*1324G>A)
c.446G>A (p.Arg149Gln)
c.281G>A (p.Arg94Gln)
c.682G>A
c.1580G>A (p.Arg527Gln)
c.1571G>A (p.Arg524Gln)
c.1598G>A (p.Arg533Gln)
c.1595G>A (p.Arg532Gln)
c.1577G>A (p.Arg526Gln)
c.1520G>A (p.Arg507Gln)
c.20G>A (p.Arg7Gln)
c.1568G>A (p.Arg523Gln)
c.1574G>A (p.Arg525Gln)
c.1490G>A (p.Arg497Gln)
c.1418G>A (p.Arg473Gln)
c.713G>A (p.Arg238Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137762762G>CCA375769357EHMT1c.1589G>C (p.Arg530Pro)
c.1475G>C (p.Arg492Pro)
c.1496G>C (p.Arg499Pro)
c.1629G>C (n.1629G>C)
c.1534G>C
c.1216G>C
c.758G>C (p.Arg253Pro)
c.*1324G>C (n.*1324G>C)
c.446G>C (p.Arg149Pro)
c.281G>C (p.Arg94Pro)
c.682G>C
c.1580G>C (p.Arg527Pro)
c.1571G>C (p.Arg524Pro)
c.1598G>C (p.Arg533Pro)
c.1595G>C (p.Arg532Pro)
c.1577G>C (p.Arg526Pro)
c.1520G>C (p.Arg507Pro)
c.20G>C (p.Arg7Pro)
c.1568G>C (p.Arg523Pro)
c.1574G>C (p.Arg525Pro)
c.1490G>C (p.Arg497Pro)
c.1418G>C (p.Arg473Pro)
c.713G>C (p.Arg238Pro)
9g.137762762G=CA1884659585EHMT1c.1589G= (p.Arg530=)
c.1475G= (p.Arg492=)
c.1496G= (p.Arg499=)
c.1629G= (n.1629G=)
c.1534G=
c.1216G=
c.758G= (p.Arg253=)
c.*1324G= (n.*1324G=)
c.446G= (p.Arg149=)
c.281G= (p.Arg94=)
c.682G=
c.1580G= (p.Arg527=)
c.1571G= (p.Arg524=)
c.1598G= (p.Arg533=)
c.1595G= (p.Arg532=)
c.1577G= (p.Arg526=)
c.1520G= (p.Arg507=)
c.20G= (p.Arg7=)
c.1568G= (p.Arg523=)
c.1574G= (p.Arg525=)
c.1490G= (p.Arg497=)
c.1418G= (p.Arg473=)
c.713G= (p.Arg238=)
9g.137762762G>TCA375769362EHMT1c.1589G>T (p.Arg530Leu)
c.1475G>T (p.Arg492Leu)
c.1496G>T (p.Arg499Leu)
c.1629G>T (n.1629G>T)
c.1534G>T
c.1216G>T
c.758G>T (p.Arg253Leu)
c.*1324G>T (n.*1324G>T)
c.446G>T (p.Arg149Leu)
c.281G>T (p.Arg94Leu)
c.682G>T
c.1580G>T (p.Arg527Leu)
c.1571G>T (p.Arg524Leu)
c.1598G>T (p.Arg533Leu)
c.1595G>T (p.Arg532Leu)
c.1577G>T (p.Arg526Leu)
c.1520G>T (p.Arg507Leu)
c.20G>T (p.Arg7Leu)
c.1568G>T (p.Arg523Leu)
c.1574G>T (p.Arg525Leu)
c.1490G>T (p.Arg497Leu)
c.1418G>T (p.Arg473Leu)
c.713G>T (p.Arg238Leu)
9g.137762763A=CA1884659586EHMT1c.1590A= (p.Arg530=)
c.1476A= (p.Arg492=)
c.1497A= (p.Arg499=)
c.1630A= (n.1630A=)
c.1535A=
c.1217A=
c.759A= (p.Arg253=)
c.*1325A= (n.*1325A=)
c.447A= (p.Arg149=)
c.282A= (p.Arg94=)
c.683A=
c.1581A= (p.Arg527=)
c.1572A= (p.Arg524=)
c.1599A= (p.Arg533=)
c.1596A= (p.Arg532=)
c.1578A= (p.Arg526=)
c.1521A= (p.Arg507=)
c.21A= (p.Arg7=)
c.1569A= (p.Arg523=)
c.1575A= (p.Arg525=)
c.1491A= (p.Arg497=)
c.1419A= (p.Arg473=)
c.714A= (p.Arg238=)
9g.137762763A>CCA467873900EHMT1c.1590A>C (p.Arg530=)
c.1476A>C (p.Arg492=)
c.1497A>C (p.Arg499=)
c.1630A>C (n.1630A>C)
c.1535A>C
c.1217A>C
c.759A>C (p.Arg253=)
c.*1325A>C (n.*1325A>C)
c.447A>C (p.Arg149=)
c.282A>C (p.Arg94=)
c.683A>C
c.1581A>C (p.Arg527=)
c.1572A>C (p.Arg524=)
c.1599A>C (p.Arg533=)
c.1596A>C (p.Arg532=)
c.1578A>C (p.Arg526=)
c.1521A>C (p.Arg507=)
c.21A>C (p.Arg7=)
c.1569A>C (p.Arg523=)
c.1575A>C (p.Arg525=)
c.1491A>C (p.Arg497=)
c.1419A>C (p.Arg473=)
c.714A>C (p.Arg238=)
9g.137762763A>GCA467873901EHMT1c.1590A>G (p.Arg530=)
c.1476A>G (p.Arg492=)
c.1497A>G (p.Arg499=)
c.1630A>G (n.1630A>G)
c.1535A>G
c.1217A>G
c.759A>G (p.Arg253=)
c.*1325A>G (n.*1325A>G)
c.447A>G (p.Arg149=)
c.282A>G (p.Arg94=)
c.683A>G
c.1581A>G (p.Arg527=)
c.1572A>G (p.Arg524=)
c.1599A>G (p.Arg533=)
c.1596A>G (p.Arg532=)
c.1578A>G (p.Arg526=)
c.1521A>G (p.Arg507=)
c.21A>G (p.Arg7=)
c.1569A>G (p.Arg523=)
c.1575A>G (p.Arg525=)
c.1491A>G (p.Arg497=)
c.1419A>G (p.Arg473=)
c.714A>G (p.Arg238=)
 dbSNP gnomAD v2 gnomAD v4
9g.137762763A>TCA467873902EHMT1c.1590A>T (p.Arg530=)
c.1476A>T (p.Arg492=)
c.1497A>T (p.Arg499=)
c.1630A>T (n.1630A>T)
c.1535A>T
c.1217A>T
c.759A>T (p.Arg253=)
c.*1325A>T (n.*1325A>T)
c.447A>T (p.Arg149=)
c.282A>T (p.Arg94=)
c.683A>T
c.1581A>T (p.Arg527=)
c.1572A>T (p.Arg524=)
c.1599A>T (p.Arg533=)
c.1596A>T (p.Arg532=)
c.1578A>T (p.Arg526=)
c.1521A>T (p.Arg507=)
c.21A>T (p.Arg7=)
c.1569A>T (p.Arg523=)
c.1575A>T (p.Arg525=)
c.1491A>T (p.Arg497=)
c.1419A>T (p.Arg473=)
c.714A>T (p.Arg238=)
9g.137762763_137762780dupCA916083098EHMT1c.1590_1607dup (p.Ala536_Asn537insGluIleThrThrLeuAla)
c.1476_1493dup (p.Ala498_Asn499insGluIleThrThrLeuAla)
c.1497_1514dup (p.Ala505_Asn506insGluIleThrThrLeuAla)
c.1630_1647dup (n.1630_1647dup)
c.1535_1552dup
c.1217_1234dup
c.759_776dup (p.Ala259_Asn260insGluIleThrThrLeuAla)
c.*1325_*1342dup (n.*1325_*1342dup)
c.447_464dup (p.Ala155_Asn156insGluIleThrThrLeuAla)
c.282_299dup (p.Ala100_Asn101insGluIleThrThrLeuAla)
c.1581_1598dup (p.Ala533_Asn534insGluIleThrThrLeuAla)
c.1572_1589dup (p.Ala530_Asn531insGluIleThrThrLeuAla)
c.1599_1616dup (p.Ala539_Asn540insGluIleThrThrLeuAla)
c.1596_1613dup (p.Ala538_Asn539insGluIleThrThrLeuAla)
c.1578_1595dup (p.Ala532_Asn533insGluIleThrThrLeuAla)
c.1521_1538dup (p.Ala513_Asn514insGluIleThrThrLeuAla)
c.21_38dup (p.Ala13_Asn14insGluIleThrThrLeuAla)
c.1569_1586dup (p.Ala529_Asn530insGluIleThrThrLeuAla)
c.1575_1592dup (p.Ala531_Asn532insGluIleThrThrLeuAla)
c.1491_1508dup (p.Ala503_Asn504insGluIleThrThrLeuAla)
c.1419_1436dup (p.Ala479_Asn480insGluIleThrThrLeuAla)
c.714_731dup (p.Ala244_Asn245insGluIleThrThrLeuAla)
 ClinVar dbSNP
9g.137762764G>ACA375769367EHMT1c.1591G>A (p.Glu531Lys)
c.1477G>A (p.Glu493Lys)
c.1498G>A (p.Glu500Lys)
c.1631G>A (n.1631G>A)
c.1536G>A
c.1218G>A
c.760G>A (p.Glu254Lys)
c.*1326G>A (n.*1326G>A)
c.448G>A (p.Glu150Lys)
c.283G>A (p.Glu95Lys)
c.684G>A
c.1582G>A (p.Glu528Lys)
c.1573G>A (p.Glu525Lys)
c.1600G>A (p.Glu534Lys)
c.1597G>A (p.Glu533Lys)
c.1579G>A (p.Glu527Lys)
c.1522G>A (p.Glu508Lys)
c.22G>A (p.Glu8Lys)
c.1570G>A (p.Glu524Lys)
c.1576G>A (p.Glu526Lys)
c.1492G>A (p.Glu498Lys)
c.1420G>A (p.Glu474Lys)
c.715G>A (p.Glu239Lys)
9g.137762764G>CCA375769381EHMT1c.1591G>C (p.Glu531Gln)
c.1477G>C (p.Glu493Gln)
c.1498G>C (p.Glu500Gln)
c.1631G>C (n.1631G>C)
c.1536G>C
c.1218G>C
c.760G>C (p.Glu254Gln)
c.*1326G>C (n.*1326G>C)
c.448G>C (p.Glu150Gln)
c.283G>C (p.Glu95Gln)
c.684G>C
c.1582G>C (p.Glu528Gln)
c.1573G>C (p.Glu525Gln)
c.1600G>C (p.Glu534Gln)
c.1597G>C (p.Glu533Gln)
c.1579G>C (p.Glu527Gln)
c.1522G>C (p.Glu508Gln)
c.22G>C (p.Glu8Gln)
c.1570G>C (p.Glu524Gln)
c.1576G>C (p.Glu526Gln)
c.1492G>C (p.Glu498Gln)
c.1420G>C (p.Glu474Gln)
c.715G>C (p.Glu239Gln)
9g.137762764G>TCA375769386EHMT1c.1591G>T (p.Glu531Ter)
c.1477G>T (p.Glu493Ter)
c.1498G>T (p.Glu500Ter)
c.1631G>T (n.1631G>T)
c.1536G>T
c.1218G>T
c.760G>T (p.Glu254Ter)
c.*1326G>T (n.*1326G>T)
c.448G>T (p.Glu150Ter)
c.283G>T (p.Glu95Ter)
c.684G>T
c.1582G>T (p.Glu528Ter)
c.1573G>T (p.Glu525Ter)
c.1600G>T (p.Glu534Ter)
c.1597G>T (p.Glu533Ter)
c.1579G>T (p.Glu527Ter)
c.1522G>T (p.Glu508Ter)
c.22G>T (p.Glu8Ter)
c.1570G>T (p.Glu524Ter)
c.1576G>T (p.Glu526Ter)
c.1492G>T (p.Glu498Ter)
c.1420G>T (p.Glu474Ter)
c.715G>T (p.Glu239Ter)
9g.137762765A=CA1884659587EHMT1c.1592A= (p.Glu531=)
c.1478A= (p.Glu493=)
c.1499A= (p.Glu500=)
c.1632A= (n.1632A=)
c.1537A=
c.1219A=
c.761A= (p.Glu254=)
c.*1327A= (n.*1327A=)
c.449A= (p.Glu150=)
c.284A= (p.Glu95=)
c.685A=
c.1583A= (p.Glu528=)
c.1574A= (p.Glu525=)
c.1601A= (p.Glu534=)
c.1598A= (p.Glu533=)
c.1580A= (p.Glu527=)
c.1523A= (p.Glu508=)
c.23A= (p.Glu8=)
c.1571A= (p.Glu524=)
c.1577A= (p.Glu526=)
c.1493A= (p.Glu498=)
c.1421A= (p.Glu474=)
c.716A= (p.Glu239=)
9g.137762765A>CCA5374671EHMT1c.1592A>C (p.Glu531Ala)
c.1478A>C (p.Glu493Ala)
c.1499A>C (p.Glu500Ala)
c.1632A>C (n.1632A>C)
c.1537A>C
c.1219A>C
c.761A>C (p.Glu254Ala)
c.*1327A>C (n.*1327A>C)
c.449A>C (p.Glu150Ala)
c.284A>C (p.Glu95Ala)
c.685A>C
c.1583A>C (p.Glu528Ala)
c.1574A>C (p.Glu525Ala)
c.1601A>C (p.Glu534Ala)
c.1598A>C (p.Glu533Ala)
c.1580A>C (p.Glu527Ala)
c.1523A>C (p.Glu508Ala)
c.23A>C (p.Glu8Ala)
c.1571A>C (p.Glu524Ala)
c.1577A>C (p.Glu526Ala)
c.1493A>C (p.Glu498Ala)
c.1421A>C (p.Glu474Ala)
c.716A>C (p.Glu239Ala)
 dbSNP ExAC gnomAD v2
9g.137762765A>GCA375769396EHMT1c.1592A>G (p.Glu531Gly)
c.1478A>G (p.Glu493Gly)
c.1499A>G (p.Glu500Gly)
c.1632A>G (n.1632A>G)
c.1537A>G
c.1219A>G
c.761A>G (p.Glu254Gly)
c.*1327A>G (n.*1327A>G)
c.449A>G (p.Glu150Gly)
c.284A>G (p.Glu95Gly)
c.685A>G
c.1583A>G (p.Glu528Gly)
c.1574A>G (p.Glu525Gly)
c.1601A>G (p.Glu534Gly)
c.1598A>G (p.Glu533Gly)
c.1580A>G (p.Glu527Gly)
c.1523A>G (p.Glu508Gly)
c.23A>G (p.Glu8Gly)
c.1571A>G (p.Glu524Gly)
c.1577A>G (p.Glu526Gly)
c.1493A>G (p.Glu498Gly)
c.1421A>G (p.Glu474Gly)
c.716A>G (p.Glu239Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.137762765A>TCA375769398EHMT1c.1592A>T (p.Glu531Val)
c.1478A>T (p.Glu493Val)
c.1499A>T (p.Glu500Val)
c.1632A>T (n.1632A>T)
c.1537A>T
c.1219A>T
c.761A>T (p.Glu254Val)
c.*1327A>T (n.*1327A>T)
c.449A>T (p.Glu150Val)
c.284A>T (p.Glu95Val)
c.685A>T
c.1583A>T (p.Glu528Val)
c.1574A>T (p.Glu525Val)
c.1601A>T (p.Glu534Val)
c.1598A>T (p.Glu533Val)
c.1580A>T (p.Glu527Val)
c.1523A>T (p.Glu508Val)
c.23A>T (p.Glu8Val)
c.1571A>T (p.Glu524Val)
c.1577A>T (p.Glu526Val)
c.1493A>T (p.Glu498Val)
c.1421A>T (p.Glu474Val)
c.716A>T (p.Glu239Val)
9g.137762766G>ACA467873903EHMT1c.1593G>A (p.Glu531=)
c.1479G>A (p.Glu493=)
c.1500G>A (p.Glu500=)
c.1633G>A (n.1633G>A)
c.1538G>A
c.1220G>A
c.762G>A (p.Glu254=)
c.*1328G>A (n.*1328G>A)
c.450G>A (p.Glu150=)
c.285G>A (p.Glu95=)
c.686G>A
c.1584G>A (p.Glu528=)
c.1575G>A (p.Glu525=)
c.1602G>A (p.Glu534=)
c.1599G>A (p.Glu533=)
c.1581G>A (p.Glu527=)
c.1524G>A (p.Glu508=)
c.24G>A (p.Glu8=)
c.1572G>A (p.Glu524=)
c.1578G>A (p.Glu526=)
c.1494G>A (p.Glu498=)
c.1422G>A (p.Glu474=)
c.717G>A (p.Glu239=)
9g.137762766G>CCA375769399EHMT1c.1593G>C (p.Glu531Asp)
c.1479G>C (p.Glu493Asp)
c.1500G>C (p.Glu500Asp)
c.1633G>C (n.1633G>C)
c.1538G>C
c.1220G>C
c.762G>C (p.Glu254Asp)
c.*1328G>C (n.*1328G>C)
c.450G>C (p.Glu150Asp)
c.285G>C (p.Glu95Asp)
c.686G>C
c.1584G>C (p.Glu528Asp)
c.1575G>C (p.Glu525Asp)
c.1602G>C (p.Glu534Asp)
c.1599G>C (p.Glu533Asp)
c.1581G>C (p.Glu527Asp)
c.1524G>C (p.Glu508Asp)
c.24G>C (p.Glu8Asp)
c.1572G>C (p.Glu524Asp)
c.1578G>C (p.Glu526Asp)
c.1494G>C (p.Glu498Asp)
c.1422G>C (p.Glu474Asp)
c.717G>C (p.Glu239Asp)
9g.137762766G>TCA375769401EHMT1c.1593G>T (p.Glu531Asp)
c.1479G>T (p.Glu493Asp)
c.1500G>T (p.Glu500Asp)
c.1633G>T (n.1633G>T)
c.1538G>T
c.1220G>T
c.762G>T (p.Glu254Asp)
c.*1328G>T (n.*1328G>T)
c.450G>T (p.Glu150Asp)
c.285G>T (p.Glu95Asp)
c.686G>T
c.1584G>T (p.Glu528Asp)
c.1575G>T (p.Glu525Asp)
c.1602G>T (p.Glu534Asp)
c.1599G>T (p.Glu533Asp)
c.1581G>T (p.Glu527Asp)
c.1524G>T (p.Glu508Asp)
c.24G>T (p.Glu8Asp)
c.1572G>T (p.Glu524Asp)
c.1578G>T (p.Glu526Asp)
c.1494G>T (p.Glu498Asp)
c.1422G>T (p.Glu474Asp)
c.717G>T (p.Glu239Asp)
9g.137762767A>CCA375769405EHMT1c.1594A>C (p.Ile532Leu)
c.1480A>C (p.Ile494Leu)
c.1501A>C (p.Ile501Leu)
c.1634A>C (n.1634A>C)
c.1539A>C
c.1221A>C
c.763A>C (p.Ile255Leu)
c.*1329A>C (n.*1329A>C)
c.451A>C (p.Ile151Leu)
c.286A>C (p.Ile96Leu)
c.687A>C
c.1585A>C (p.Ile529Leu)
c.1576A>C (p.Ile526Leu)
c.1603A>C (p.Ile535Leu)
c.1600A>C (p.Ile534Leu)
c.1582A>C (p.Ile528Leu)
c.1525A>C (p.Ile509Leu)
c.25A>C (p.Ile9Leu)
c.1573A>C (p.Ile525Leu)
c.1579A>C (p.Ile527Leu)
c.1495A>C (p.Ile499Leu)
c.1423A>C (p.Ile475Leu)
c.718A>C (p.Ile240Leu)
9g.137762767A>GCA375769411EHMT1c.1594A>G (p.Ile532Val)
c.1480A>G (p.Ile494Val)
c.1501A>G (p.Ile501Val)
c.1634A>G (n.1634A>G)
c.1539A>G
c.1221A>G
c.763A>G (p.Ile255Val)
c.*1329A>G (n.*1329A>G)
c.451A>G (p.Ile151Val)
c.286A>G (p.Ile96Val)
c.687A>G
c.1585A>G (p.Ile529Val)
c.1576A>G (p.Ile526Val)
c.1603A>G (p.Ile535Val)
c.1600A>G (p.Ile534Val)
c.1582A>G (p.Ile528Val)
c.1525A>G (p.Ile509Val)
c.25A>G (p.Ile9Val)
c.1573A>G (p.Ile525Val)
c.1579A>G (p.Ile527Val)
c.1495A>G (p.Ile499Val)
c.1423A>G (p.Ile475Val)
c.718A>G (p.Ile240Val)
 gnomAD v4
9g.137762767A>TCA375769409EHMT1c.1594A>T (p.Ile532Phe)
c.1480A>T (p.Ile494Phe)
c.1501A>T (p.Ile501Phe)
c.1634A>T (n.1634A>T)
c.1539A>T
c.1221A>T
c.763A>T (p.Ile255Phe)
c.*1329A>T (n.*1329A>T)
c.451A>T (p.Ile151Phe)
c.286A>T (p.Ile96Phe)
c.687A>T
c.1585A>T (p.Ile529Phe)
c.1576A>T (p.Ile526Phe)
c.1603A>T (p.Ile535Phe)
c.1600A>T (p.Ile534Phe)
c.1582A>T (p.Ile528Phe)
c.1525A>T (p.Ile509Phe)
c.25A>T (p.Ile9Phe)
c.1573A>T (p.Ile525Phe)
c.1579A>T (p.Ile527Phe)
c.1495A>T (p.Ile499Phe)
c.1423A>T (p.Ile475Phe)
c.718A>T (p.Ile240Phe)
9g.137762768T>ACA375769415EHMT1c.1595T>A (p.Ile532Asn)
c.1481T>A (p.Ile494Asn)
c.1502T>A (p.Ile501Asn)
c.1635T>A (n.1635T>A)
c.1540T>A
c.1222T>A
c.764T>A (p.Ile255Asn)
c.*1330T>A (n.*1330T>A)
c.452T>A (p.Ile151Asn)
c.287T>A (p.Ile96Asn)
c.688T>A
c.1586T>A (p.Ile529Asn)
c.1577T>A (p.Ile526Asn)
c.1604T>A (p.Ile535Asn)
c.1601T>A (p.Ile534Asn)
c.1583T>A (p.Ile528Asn)
c.1526T>A (p.Ile509Asn)
c.26T>A (p.Ile9Asn)
c.1574T>A (p.Ile525Asn)
c.1580T>A (p.Ile527Asn)
c.1496T>A (p.Ile499Asn)
c.1424T>A (p.Ile475Asn)
c.719T>A (p.Ile240Asn)
9g.137762768T>CCA375769419EHMT1c.1595T>C (p.Ile532Thr)
c.1481T>C (p.Ile494Thr)
c.1502T>C (p.Ile501Thr)
c.1635T>C (n.1635T>C)
c.1540T>C
c.1222T>C
c.764T>C (p.Ile255Thr)
c.*1330T>C (n.*1330T>C)
c.452T>C (p.Ile151Thr)
c.287T>C (p.Ile96Thr)
c.688T>C
c.1586T>C (p.Ile529Thr)
c.1577T>C (p.Ile526Thr)
c.1604T>C (p.Ile535Thr)
c.1601T>C (p.Ile534Thr)
c.1583T>C (p.Ile528Thr)
c.1526T>C (p.Ile509Thr)
c.26T>C (p.Ile9Thr)
c.1574T>C (p.Ile525Thr)
c.1580T>C (p.Ile527Thr)
c.1496T>C (p.Ile499Thr)
c.1424T>C (p.Ile475Thr)
c.719T>C (p.Ile240Thr)
9g.137762768T>GCA375769422EHMT1c.1595T>G (p.Ile532Ser)
c.1481T>G (p.Ile494Ser)
c.1502T>G (p.Ile501Ser)
c.1635T>G (n.1635T>G)
c.1540T>G
c.1222T>G
c.764T>G (p.Ile255Ser)
c.*1330T>G (n.*1330T>G)
c.452T>G (p.Ile151Ser)
c.287T>G (p.Ile96Ser)
c.688T>G
c.1586T>G (p.Ile529Ser)
c.1577T>G (p.Ile526Ser)
c.1604T>G (p.Ile535Ser)
c.1601T>G (p.Ile534Ser)
c.1583T>G (p.Ile528Ser)
c.1526T>G (p.Ile509Ser)
c.26T>G (p.Ile9Ser)
c.1574T>G (p.Ile525Ser)
c.1580T>G (p.Ile527Ser)
c.1496T>G (p.Ile499Ser)
c.1424T>G (p.Ile475Ser)
c.719T>G (p.Ile240Ser)
9g.137762769delCA2695211834EHMT1c.1596del (p.Thr533ProfsTer?)
c.1596del (p.Thr533ProfsTer18)
c.1482del (p.Thr495ProfsTer?)
c.1503del (p.Thr502ProfsTer?)
c.1636del (n.1636del)
c.1541del
c.1223del
c.765del (p.Thr256ProfsTer?)
c.*1331del (n.*1331del)
c.453del (p.Thr152ProfsTer?)
c.288del (p.Thr97ProfsTer?)
c.689del
c.1587del (p.Thr530ProfsTer?)
c.1578del (p.Thr527ProfsTer?)
c.1605del (p.Thr536ProfsTer?)
c.1602del (p.Thr535ProfsTer?)
c.1584del (p.Thr529ProfsTer?)
c.1527del (p.Thr510ProfsTer?)
c.27del (p.Thr10ProfsTer?)
c.1575del (p.Thr526ProfsTer?)
c.1503del (p.Thr502ProfsTer18)
c.1581del (p.Thr528ProfsTer?)
c.1497del (p.Thr500ProfsTer?)
c.1425del (p.Thr476ProfsTer?)
c.720del (p.Thr241ProfsTer?)
9g.137762769C>ACA467873904EHMT1c.1596C>A (p.Ile532=)
c.1482C>A (p.Ile494=)
c.1503C>A (p.Ile501=)
c.1636C>A (n.1636C>A)
c.1541C>A
c.1223C>A
c.765C>A (p.Ile255=)
c.*1331C>A (n.*1331C>A)
c.453C>A (p.Ile151=)
c.288C>A (p.Ile96=)
c.689C>A
c.1587C>A (p.Ile529=)
c.1578C>A (p.Ile526=)
c.1605C>A (p.Ile535=)
c.1602C>A (p.Ile534=)
c.1584C>A (p.Ile528=)
c.1527C>A (p.Ile509=)
c.27C>A (p.Ile9=)
c.1575C>A (p.Ile525=)
c.1581C>A (p.Ile527=)
c.1497C>A (p.Ile499=)
c.1425C>A (p.Ile475=)
c.720C>A (p.Ile240=)
 dbSNP gnomAD v2 gnomAD v4
9g.137762769C=CA1884659588EHMT1c.1596C= (p.Ile532=)
c.1482C= (p.Ile494=)
c.1503C= (p.Ile501=)
c.1636C= (n.1636C=)
c.1541C=
c.1223C=
c.765C= (p.Ile255=)
c.*1331C= (n.*1331C=)
c.453C= (p.Ile151=)
c.288C= (p.Ile96=)
c.689C=
c.1587C= (p.Ile529=)
c.1578C= (p.Ile526=)
c.1605C= (p.Ile535=)
c.1602C= (p.Ile534=)
c.1584C= (p.Ile528=)
c.1527C= (p.Ile509=)
c.27C= (p.Ile9=)
c.1575C= (p.Ile525=)
c.1581C= (p.Ile527=)
c.1497C= (p.Ile499=)
c.1425C= (p.Ile475=)
c.720C= (p.Ile240=)
9g.137762769C>GCA375769426EHMT1c.1596C>G (p.Ile532Met)
c.1482C>G (p.Ile494Met)
c.1503C>G (p.Ile501Met)
c.1636C>G (n.1636C>G)
c.1541C>G
c.1223C>G
c.765C>G (p.Ile255Met)
c.*1331C>G (n.*1331C>G)
c.453C>G (p.Ile151Met)
c.288C>G (p.Ile96Met)
c.689C>G
c.1587C>G (p.Ile529Met)
c.1578C>G (p.Ile526Met)
c.1605C>G (p.Ile535Met)
c.1602C>G (p.Ile534Met)
c.1584C>G (p.Ile528Met)
c.1527C>G (p.Ile509Met)
c.27C>G (p.Ile9Met)
c.1575C>G (p.Ile525Met)
c.1581C>G (p.Ile527Met)
c.1497C>G (p.Ile499Met)
c.1425C>G (p.Ile475Met)
c.720C>G (p.Ile240Met)
9g.137762769C>TCA467873905EHMT1c.1596C>T (p.Ile532=)
c.1482C>T (p.Ile494=)
c.1503C>T (p.Ile501=)
c.1636C>T (n.1636C>T)
c.1541C>T
c.1223C>T
c.765C>T (p.Ile255=)
c.*1331C>T (n.*1331C>T)
c.453C>T (p.Ile151=)
c.288C>T (p.Ile96=)
c.689C>T
c.1587C>T (p.Ile529=)
c.1578C>T (p.Ile526=)
c.1605C>T (p.Ile535=)
c.1602C>T (p.Ile534=)
c.1584C>T (p.Ile528=)
c.1527C>T (p.Ile509=)
c.27C>T (p.Ile9=)
c.1575C>T (p.Ile525=)
c.1581C>T (p.Ile527=)
c.1497C>T (p.Ile499=)
c.1425C>T (p.Ile475=)
c.720C>T (p.Ile240=)
 ClinVar
9g.137762769_137762770delinsCACA1884659589EHMT1c.1596_1597delinsCA (p.Ile532=)
c.1482_1483delinsCA (p.Ile494=)
c.1503_1504delinsCA (p.Ile501=)
c.1636_1637delinsCA (n.1636_1637delinsCA)
c.1541_1542delinsCA
c.1223_1224delinsCA
c.765_766delinsCA (p.Ile255=)
c.*1331_*1332delinsCA (n.*1331_*1332delinsCA)
c.453_454delinsCA (p.Ile151=)
c.288_289delinsCA (p.Ile96=)
c.1587_1588delinsCA (p.Ile529=)
c.1578_1579delinsCA (p.Ile526=)
c.1605_1606delinsCA (p.Ile535=)
c.1602_1603delinsCA (p.Ile534=)
c.1584_1585delinsCA (p.Ile528=)
c.1527_1528delinsCA (p.Ile509=)
c.27_28delinsCA (p.Ile9=)
c.1575_1576delinsCA (p.Ile525=)
c.1581_1582delinsCA (p.Ile527=)
c.1497_1498delinsCA (p.Ile499=)
c.1425_1426delinsCA (p.Ile475=)
c.720_721delinsCA (p.Ile240=)
9g.137762770delCA1139661353EHMT1c.1597del (p.Thr533ProfsTer30)
c.1597del (p.Thr533ProfsTer18)
c.1483del (p.Thr495ProfsTer30)
c.1504del (p.Thr502ProfsTer30)
c.1637del (n.1637del)
c.1542del
c.1224del
c.766del (p.Thr256ProfsTer30)
c.*1332del (n.*1332del)
c.454del (p.Thr152ProfsTer30)
c.289del (p.Thr97ProfsTer?)
c.1588del (p.Thr530ProfsTer30)
c.1579del (p.Thr527ProfsTer30)
c.1606del (p.Thr536ProfsTer30)
c.1603del (p.Thr535ProfsTer30)
c.1585del (p.Thr529ProfsTer30)
c.1528del (p.Thr510ProfsTer30)
c.1606del (p.Thr536ProfsTer?)
c.28del (p.Thr10ProfsTer30)
c.1585del (p.Thr529ProfsTer?)
c.1576del (p.Thr526ProfsTer30)
c.1504del (p.Thr502ProfsTer18)
c.1582del (p.Thr528ProfsTer30)
c.1498del (p.Thr500ProfsTer30)
c.1426del (p.Thr476ProfsTer30)
c.1504del (p.Thr502ProfsTer?)
c.721del (p.Thr241ProfsTer30)
c.1483del (p.Thr495ProfsTer?)
 ClinVar dbSNP
9g.137762770A=CA1884659590EHMT1c.1597A= (p.Thr533=)
c.1483A= (p.Thr495=)
c.1504A= (p.Thr502=)
c.1637A= (n.1637A=)
c.1542A=
c.1224A=
c.766A= (p.Thr256=)
c.*1332A= (n.*1332A=)
c.454A= (p.Thr152=)
c.289A= (p.Thr97=)
c.1588A= (p.Thr530=)
c.1579A= (p.Thr527=)
c.1606A= (p.Thr536=)
c.1603A= (p.Thr535=)
c.1585A= (p.Thr529=)
c.1528A= (p.Thr510=)
c.28A= (p.Thr10=)
c.1576A= (p.Thr526=)
c.1582A= (p.Thr528=)
c.1498A= (p.Thr500=)
c.1426A= (p.Thr476=)
c.721A= (p.Thr241=)
9g.137762770A>CCA375769432EHMT1c.1597A>C (p.Thr533Pro)
c.1483A>C (p.Thr495Pro)
c.1504A>C (p.Thr502Pro)
c.1637A>C (n.1637A>C)
c.1542A>C
c.1224A>C
c.766A>C (p.Thr256Pro)
c.*1332A>C (n.*1332A>C)
c.454A>C (p.Thr152Pro)
c.289A>C (p.Thr97Pro)
c.1588A>C (p.Thr530Pro)
c.1579A>C (p.Thr527Pro)
c.1606A>C (p.Thr536Pro)
c.1603A>C (p.Thr535Pro)
c.1585A>C (p.Thr529Pro)
c.1528A>C (p.Thr510Pro)
c.28A>C (p.Thr10Pro)
c.1576A>C (p.Thr526Pro)
c.1582A>C (p.Thr528Pro)
c.1498A>C (p.Thr500Pro)
c.1426A>C (p.Thr476Pro)
c.721A>C (p.Thr241Pro)
 dbSNP
9g.137762770A>GCA375769436EHMT1c.1597A>G (p.Thr533Ala)
c.1483A>G (p.Thr495Ala)
c.1504A>G (p.Thr502Ala)
c.1637A>G (n.1637A>G)
c.1542A>G
c.1224A>G
c.766A>G (p.Thr256Ala)
c.*1332A>G (n.*1332A>G)
c.454A>G (p.Thr152Ala)
c.289A>G (p.Thr97Ala)
c.1588A>G (p.Thr530Ala)
c.1579A>G (p.Thr527Ala)
c.1606A>G (p.Thr536Ala)
c.1603A>G (p.Thr535Ala)
c.1585A>G (p.Thr529Ala)
c.1528A>G (p.Thr510Ala)
c.28A>G (p.Thr10Ala)
c.1576A>G (p.Thr526Ala)
c.1582A>G (p.Thr528Ala)
c.1498A>G (p.Thr500Ala)
c.1426A>G (p.Thr476Ala)
c.721A>G (p.Thr241Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.137762770A>TCA375769440EHMT1c.1597A>T (p.Thr533Ser)
c.1483A>T (p.Thr495Ser)
c.1504A>T (p.Thr502Ser)
c.1637A>T (n.1637A>T)
c.1542A>T
c.1224A>T
c.766A>T (p.Thr256Ser)
c.*1332A>T (n.*1332A>T)
c.454A>T (p.Thr152Ser)
c.289A>T (p.Thr97Ser)
c.1588A>T (p.Thr530Ser)
c.1579A>T (p.Thr527Ser)
c.1606A>T (p.Thr536Ser)
c.1603A>T (p.Thr535Ser)
c.1585A>T (p.Thr529Ser)
c.1528A>T (p.Thr510Ser)
c.28A>T (p.Thr10Ser)
c.1576A>T (p.Thr526Ser)
c.1582A>T (p.Thr528Ser)
c.1498A>T (p.Thr500Ser)
c.1426A>T (p.Thr476Ser)
c.721A>T (p.Thr241Ser)
9g.137762771C>ACA375769447EHMT1c.1598C>A (p.Thr533Asn)
c.1484C>A (p.Thr495Asn)
c.1505C>A (p.Thr502Asn)
c.1638C>A (n.1638C>A)
c.1543C>A
c.1225C>A
c.767C>A (p.Thr256Asn)
c.*1333C>A (n.*1333C>A)
c.455C>A (p.Thr152Asn)
c.290C>A (p.Thr97Asn)
c.1589C>A (p.Thr530Asn)
c.1580C>A (p.Thr527Asn)
c.1607C>A (p.Thr536Asn)
c.1604C>A (p.Thr535Asn)
c.1586C>A (p.Thr529Asn)
c.1529C>A (p.Thr510Asn)
c.29C>A (p.Thr10Asn)
c.1577C>A (p.Thr526Asn)
c.1583C>A (p.Thr528Asn)
c.1499C>A (p.Thr500Asn)
c.1427C>A (p.Thr476Asn)
c.722C>A (p.Thr241Asn)
9g.137762771C>GCA375769455EHMT1c.1598C>G (p.Thr533Ser)
c.1484C>G (p.Thr495Ser)
c.1505C>G (p.Thr502Ser)
c.1638C>G (n.1638C>G)
c.1543C>G
c.1225C>G
c.767C>G (p.Thr256Ser)
c.*1333C>G (n.*1333C>G)
c.455C>G (p.Thr152Ser)
c.290C>G (p.Thr97Ser)
c.1589C>G (p.Thr530Ser)
c.1580C>G (p.Thr527Ser)
c.1607C>G (p.Thr536Ser)
c.1604C>G (p.Thr535Ser)
c.1586C>G (p.Thr529Ser)
c.1529C>G (p.Thr510Ser)
c.29C>G (p.Thr10Ser)
c.1577C>G (p.Thr526Ser)
c.1583C>G (p.Thr528Ser)
c.1499C>G (p.Thr500Ser)
c.1427C>G (p.Thr476Ser)
c.722C>G (p.Thr241Ser)
9g.137762771C>TCA375769458EHMT1c.1598C>T (p.Thr533Ile)
c.1484C>T (p.Thr495Ile)
c.1505C>T (p.Thr502Ile)
c.1638C>T (n.1638C>T)
c.1543C>T
c.1225C>T
c.767C>T (p.Thr256Ile)
c.*1333C>T (n.*1333C>T)
c.455C>T (p.Thr152Ile)
c.290C>T (p.Thr97Ile)
c.1589C>T (p.Thr530Ile)
c.1580C>T (p.Thr527Ile)
c.1607C>T (p.Thr536Ile)
c.1604C>T (p.Thr535Ile)
c.1586C>T (p.Thr529Ile)
c.1529C>T (p.Thr510Ile)
c.29C>T (p.Thr10Ile)
c.1577C>T (p.Thr526Ile)
c.1583C>T (p.Thr528Ile)
c.1499C>T (p.Thr500Ile)
c.1427C>T (p.Thr476Ile)
c.722C>T (p.Thr241Ile)
9g.137762772C>ACA467873908EHMT1c.1599C>A (p.Thr533=)
c.1485C>A (p.Thr495=)
c.1506C>A (p.Thr502=)
c.1639C>A (n.1639C>A)
c.1544C>A
c.1226C>A
c.768C>A (p.Thr256=)
c.*1334C>A (n.*1334C>A)
c.456C>A (p.Thr152=)
c.291C>A (p.Thr97=)
c.1590C>A (p.Thr530=)
c.1581C>A (p.Thr527=)
c.1608C>A (p.Thr536=)
c.1605C>A (p.Thr535=)
c.1587C>A (p.Thr529=)
c.1530C>A (p.Thr510=)
c.30C>A (p.Thr10=)
c.1578C>A (p.Thr526=)
c.1584C>A (p.Thr528=)
c.1500C>A (p.Thr500=)
c.1428C>A (p.Thr476=)
c.723C>A (p.Thr241=)
9g.137762772C>GCA467873907EHMT1c.1599C>G (p.Thr533=)
c.1485C>G (p.Thr495=)
c.1506C>G (p.Thr502=)
c.1639C>G (n.1639C>G)
c.1544C>G
c.1226C>G
c.768C>G (p.Thr256=)
c.*1334C>G (n.*1334C>G)
c.456C>G (p.Thr152=)
c.291C>G (p.Thr97=)
c.1590C>G (p.Thr530=)
c.1581C>G (p.Thr527=)
c.1608C>G (p.Thr536=)
c.1605C>G (p.Thr535=)
c.1587C>G (p.Thr529=)
c.1530C>G (p.Thr510=)
c.30C>G (p.Thr10=)
c.1578C>G (p.Thr526=)
c.1584C>G (p.Thr528=)
c.1500C>G (p.Thr500=)
c.1428C>G (p.Thr476=)
c.723C>G (p.Thr241=)
9g.137762772C>TCA467873906EHMT1c.1599C>T (p.Thr533=)
c.1485C>T (p.Thr495=)
c.1506C>T (p.Thr502=)
c.1639C>T (n.1639C>T)
c.1544C>T
c.1226C>T
c.768C>T (p.Thr256=)
c.*1334C>T (n.*1334C>T)
c.456C>T (p.Thr152=)
c.291C>T (p.Thr97=)
c.1590C>T (p.Thr530=)
c.1581C>T (p.Thr527=)
c.1608C>T (p.Thr536=)
c.1605C>T (p.Thr535=)
c.1587C>T (p.Thr529=)
c.1530C>T (p.Thr510=)
c.30C>T (p.Thr10=)
c.1578C>T (p.Thr526=)
c.1584C>T (p.Thr528=)
c.1500C>T (p.Thr500=)
c.1428C>T (p.Thr476=)
c.723C>T (p.Thr241=)
 gnomAD v4
9g.137762773A>CCA375769464EHMT1c.1600A>C (p.Thr534Pro)
c.1486A>C (p.Thr496Pro)
c.1507A>C (p.Thr503Pro)
c.1640A>C (n.1640A>C)
c.1545A>C
c.1227A>C
c.769A>C (p.Thr257Pro)
c.*1335A>C (n.*1335A>C)
c.457A>C (p.Thr153Pro)
c.292A>C (p.Thr98Pro)
c.1591A>C (p.Thr531Pro)
c.1582A>C (p.Thr528Pro)
c.1609A>C (p.Thr537Pro)
c.1606A>C (p.Thr536Pro)
c.1588A>C (p.Thr530Pro)
c.1531A>C (p.Thr511Pro)
c.31A>C (p.Thr11Pro)
c.1579A>C (p.Thr527Pro)
c.1585A>C (p.Thr529Pro)
c.1501A>C (p.Thr501Pro)
c.1429A>C (p.Thr477Pro)
c.724A>C (p.Thr242Pro)
9g.137762773A>GCA375769467EHMT1c.1600A>G (p.Thr534Ala)
c.1486A>G (p.Thr496Ala)
c.1507A>G (p.Thr503Ala)
c.1640A>G (n.1640A>G)
c.1545A>G
c.1227A>G
c.769A>G (p.Thr257Ala)
c.*1335A>G (n.*1335A>G)
c.457A>G (p.Thr153Ala)
c.292A>G (p.Thr98Ala)
c.1591A>G (p.Thr531Ala)
c.1582A>G (p.Thr528Ala)
c.1609A>G (p.Thr537Ala)
c.1606A>G (p.Thr536Ala)
c.1588A>G (p.Thr530Ala)
c.1531A>G (p.Thr511Ala)
c.31A>G (p.Thr11Ala)
c.1579A>G (p.Thr527Ala)
c.1585A>G (p.Thr529Ala)
c.1501A>G (p.Thr501Ala)
c.1429A>G (p.Thr477Ala)
c.724A>G (p.Thr242Ala)
 ClinVar
9g.137762773A>TCA375769471EHMT1c.1600A>T (p.Thr534Ser)
c.1486A>T (p.Thr496Ser)
c.1507A>T (p.Thr503Ser)
c.1640A>T (n.1640A>T)
c.1545A>T
c.1227A>T
c.769A>T (p.Thr257Ser)
c.*1335A>T (n.*1335A>T)
c.457A>T (p.Thr153Ser)
c.292A>T (p.Thr98Ser)
c.1591A>T (p.Thr531Ser)
c.1582A>T (p.Thr528Ser)
c.1609A>T (p.Thr537Ser)
c.1606A>T (p.Thr536Ser)
c.1588A>T (p.Thr530Ser)
c.1531A>T (p.Thr511Ser)
c.31A>T (p.Thr11Ser)
c.1579A>T (p.Thr527Ser)
c.1585A>T (p.Thr529Ser)
c.1501A>T (p.Thr501Ser)
c.1429A>T (p.Thr477Ser)
c.724A>T (p.Thr242Ser)
9g.137762774C>ACA375769482EHMT1c.1601C>A (p.Thr534Lys)
c.1487C>A (p.Thr496Lys)
c.1508C>A (p.Thr503Lys)
c.1641C>A (n.1641C>A)
c.1546C>A
c.1228C>A
c.770C>A (p.Thr257Lys)
c.*1336C>A (n.*1336C>A)
c.458C>A (p.Thr153Lys)
c.293C>A (p.Thr98Lys)
c.1592C>A (p.Thr531Lys)
c.1583C>A (p.Thr528Lys)
c.1610C>A (p.Thr537Lys)
c.1607C>A (p.Thr536Lys)
c.1589C>A (p.Thr530Lys)
c.1532C>A (p.Thr511Lys)
c.32C>A (p.Thr11Lys)
c.1580C>A (p.Thr527Lys)
c.1586C>A (p.Thr529Lys)
c.1502C>A (p.Thr501Lys)
c.1430C>A (p.Thr477Lys)
c.725C>A (p.Thr242Lys)
9g.137762774C=CA1884659591EHMT1c.1601C= (p.Thr534=)
c.1487C= (p.Thr496=)
c.1508C= (p.Thr503=)
c.1641C= (n.1641C=)
c.1546C=
c.1228C=
c.770C= (p.Thr257=)
c.*1336C= (n.*1336C=)
c.458C= (p.Thr153=)
c.293C= (p.Thr98=)
c.1592C= (p.Thr531=)
c.1583C= (p.Thr528=)
c.1610C= (p.Thr537=)
c.1607C= (p.Thr536=)
c.1589C= (p.Thr530=)
c.1532C= (p.Thr511=)
c.32C= (p.Thr11=)
c.1580C= (p.Thr527=)
c.1586C= (p.Thr529=)
c.1502C= (p.Thr501=)
c.1430C= (p.Thr477=)
c.725C= (p.Thr242=)
9g.137762774C>GCA375769475EHMT1c.1601C>G (p.Thr534Arg)
c.1487C>G (p.Thr496Arg)
c.1508C>G (p.Thr503Arg)
c.1641C>G (n.1641C>G)
c.1546C>G
c.1228C>G
c.770C>G (p.Thr257Arg)
c.*1336C>G (n.*1336C>G)
c.458C>G (p.Thr153Arg)
c.293C>G (p.Thr98Arg)
c.1592C>G (p.Thr531Arg)
c.1583C>G (p.Thr528Arg)
c.1610C>G (p.Thr537Arg)
c.1607C>G (p.Thr536Arg)
c.1589C>G (p.Thr530Arg)
c.1532C>G (p.Thr511Arg)
c.32C>G (p.Thr11Arg)
c.1580C>G (p.Thr527Arg)
c.1586C>G (p.Thr529Arg)
c.1502C>G (p.Thr501Arg)
c.1430C>G (p.Thr477Arg)
c.725C>G (p.Thr242Arg)
9g.137762774C>TCA375769479EHMT1c.1601C>T (p.Thr534Ile)
c.1487C>T (p.Thr496Ile)
c.1508C>T (p.Thr503Ile)
c.1641C>T (n.1641C>T)
c.1546C>T
c.1228C>T
c.770C>T (p.Thr257Ile)
c.*1336C>T (n.*1336C>T)
c.458C>T (p.Thr153Ile)
c.293C>T (p.Thr98Ile)
c.1592C>T (p.Thr531Ile)
c.1583C>T (p.Thr528Ile)
c.1610C>T (p.Thr537Ile)
c.1607C>T (p.Thr536Ile)
c.1589C>T (p.Thr530Ile)
c.1532C>T (p.Thr511Ile)
c.32C>T (p.Thr11Ile)
c.1580C>T (p.Thr527Ile)
c.1586C>T (p.Thr529Ile)
c.1502C>T (p.Thr501Ile)
c.1430C>T (p.Thr477Ile)
c.725C>T (p.Thr242Ile)
 ClinVar dbSNP
9g.137762775A=CA1884659592EHMT1c.1602A= (p.Thr534=)
c.1488A= (p.Thr496=)
c.1509A= (p.Thr503=)
c.1642A= (n.1642A=)
c.1547A=
c.1229A=
c.771A= (p.Thr257=)
c.*1337A= (n.*1337A=)
c.459A= (p.Thr153=)
c.294A= (p.Thr98=)
c.1593A= (p.Thr531=)
c.1584A= (p.Thr528=)
c.1611A= (p.Thr537=)
c.1608A= (p.Thr536=)
c.1590A= (p.Thr530=)
c.1533A= (p.Thr511=)
c.33A= (p.Thr11=)
c.1581A= (p.Thr527=)
c.1587A= (p.Thr529=)
c.1503A= (p.Thr501=)
c.1431A= (p.Thr477=)
c.726A= (p.Thr242=)
9g.137762775A>CCA467873909EHMT1c.1602A>C (p.Thr534=)
c.1488A>C (p.Thr496=)
c.1509A>C (p.Thr503=)
c.1642A>C (n.1642A>C)
c.1547A>C
c.1229A>C
c.771A>C (p.Thr257=)
c.*1337A>C (n.*1337A>C)
c.459A>C (p.Thr153=)
c.294A>C (p.Thr98=)
c.1593A>C (p.Thr531=)
c.1584A>C (p.Thr528=)
c.1611A>C (p.Thr537=)
c.1608A>C (p.Thr536=)
c.1590A>C (p.Thr530=)
c.1533A>C (p.Thr511=)
c.33A>C (p.Thr11=)
c.1581A>C (p.Thr527=)
c.1587A>C (p.Thr529=)
c.1503A>C (p.Thr501=)
c.1431A>C (p.Thr477=)
c.726A>C (p.Thr242=)
9g.137762775A>GCA467873910EHMT1c.1602A>G (p.Thr534=)
c.1488A>G (p.Thr496=)
c.1509A>G (p.Thr503=)
c.1642A>G (n.1642A>G)
c.1547A>G
c.1229A>G
c.771A>G (p.Thr257=)
c.*1337A>G (n.*1337A>G)
c.459A>G (p.Thr153=)
c.294A>G (p.Thr98=)
c.1593A>G (p.Thr531=)
c.1584A>G (p.Thr528=)
c.1611A>G (p.Thr537=)
c.1608A>G (p.Thr536=)
c.1590A>G (p.Thr530=)
c.1533A>G (p.Thr511=)
c.33A>G (p.Thr11=)
c.1581A>G (p.Thr527=)
c.1587A>G (p.Thr529=)
c.1503A>G (p.Thr501=)
c.1431A>G (p.Thr477=)
c.726A>G (p.Thr242=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137762775A>TCA467873911EHMT1c.1602A>T (p.Thr534=)
c.1488A>T (p.Thr496=)
c.1509A>T (p.Thr503=)
c.1642A>T (n.1642A>T)
c.1547A>T
c.1229A>T
c.771A>T (p.Thr257=)
c.*1337A>T (n.*1337A>T)
c.459A>T (p.Thr153=)
c.294A>T (p.Thr98=)
c.1593A>T (p.Thr531=)
c.1584A>T (p.Thr528=)
c.1611A>T (p.Thr537=)
c.1608A>T (p.Thr536=)
c.1590A>T (p.Thr530=)
c.1533A>T (p.Thr511=)
c.33A>T (p.Thr11=)
c.1581A>T (p.Thr527=)
c.1587A>T (p.Thr529=)
c.1503A>T (p.Thr501=)
c.1431A>T (p.Thr477=)
c.726A>T (p.Thr242=)
9g.137762775dupCA658797393EHMT1c.1602dup (p.Leu535ThrfsTer15)
c.1488dup (p.Leu497ThrfsTer15)
c.1509dup (p.Leu504ThrfsTer15)
c.1642dup (n.1642dup)
c.1547dup
c.1229dup
c.771dup (p.Leu258ThrfsTer15)
c.*1337dup (n.*1337dup)
c.459dup (p.Leu154ThrfsTer15)
c.294dup (p.Leu99ThrfsTer15)
c.1593dup (p.Leu532ThrfsTer15)
c.1584dup (p.Leu529ThrfsTer15)
c.1611dup (p.Leu538ThrfsTer15)
c.1608dup (p.Leu537ThrfsTer15)
c.1590dup (p.Leu531ThrfsTer15)
c.1533dup (p.Leu512ThrfsTer15)
c.33dup (p.Leu12ThrfsTer15)
c.1581dup (p.Leu528ThrfsTer15)
c.1587dup (p.Leu530ThrfsTer15)
c.1503dup (p.Leu502ThrfsTer15)
c.1431dup (p.Leu478ThrfsTer15)
c.726dup (p.Leu243ThrfsTer15)
 ClinVar dbSNP
9g.137762776C>ACA375769485EHMT1c.1603C>A (p.Leu535Met)
c.1489C>A (p.Leu497Met)
c.1510C>A (p.Leu504Met)
c.1643C>A (n.1643C>A)
c.1548C>A
c.1230C>A
c.772C>A (p.Leu258Met)
c.*1338C>A (n.*1338C>A)
c.460C>A (p.Leu154Met)
c.295C>A (p.Leu99Met)
c.1594C>A (p.Leu532Met)
c.1585C>A (p.Leu529Met)
c.1612C>A (p.Leu538Met)
c.1609C>A (p.Leu537Met)
c.1591C>A (p.Leu531Met)
c.1534C>A (p.Leu512Met)
c.34C>A (p.Leu12Met)
c.1582C>A (p.Leu528Met)
c.1588C>A (p.Leu530Met)
c.1504C>A (p.Leu502Met)
c.1432C>A (p.Leu478Met)
c.727C>A (p.Leu243Met)
9g.137762776C>GCA375769489EHMT1c.1603C>G (p.Leu535Val)
c.1489C>G (p.Leu497Val)
c.1510C>G (p.Leu504Val)
c.1643C>G (n.1643C>G)
c.1548C>G
c.1230C>G
c.772C>G (p.Leu258Val)
c.*1338C>G (n.*1338C>G)
c.460C>G (p.Leu154Val)
c.295C>G (p.Leu99Val)
c.1594C>G (p.Leu532Val)
c.1585C>G (p.Leu529Val)
c.1612C>G (p.Leu538Val)
c.1609C>G (p.Leu537Val)
c.1591C>G (p.Leu531Val)
c.1534C>G (p.Leu512Val)
c.34C>G (p.Leu12Val)
c.1582C>G (p.Leu528Val)
c.1588C>G (p.Leu530Val)
c.1504C>G (p.Leu502Val)
c.1432C>G (p.Leu478Val)
c.727C>G (p.Leu243Val)
 ClinVar
9g.137762776C>TCA467873912EHMT1c.1603C>T (p.Leu535=)
c.1489C>T (p.Leu497=)
c.1510C>T (p.Leu504=)
c.1643C>T (n.1643C>T)
c.1548C>T
c.1230C>T
c.772C>T (p.Leu258=)
c.*1338C>T (n.*1338C>T)
c.460C>T (p.Leu154=)
c.295C>T (p.Leu99=)
c.1594C>T (p.Leu532=)
c.1585C>T (p.Leu529=)
c.1612C>T (p.Leu538=)
c.1609C>T (p.Leu537=)
c.1591C>T (p.Leu531=)
c.1534C>T (p.Leu512=)
c.34C>T (p.Leu12=)
c.1582C>T (p.Leu528=)
c.1588C>T (p.Leu530=)
c.1504C>T (p.Leu502=)
c.1432C>T (p.Leu478=)
c.727C>T (p.Leu243=)
9g.137762777T>ACA375769494EHMT1c.1604T>A (p.Leu535Gln)
c.1490T>A (p.Leu497Gln)
c.1511T>A (p.Leu504Gln)
c.1644T>A (n.1644T>A)
c.1549T>A
c.1231T>A
c.773T>A (p.Leu258Gln)
c.*1339T>A (n.*1339T>A)
c.461T>A (p.Leu154Gln)
c.296T>A (p.Leu99Gln)
c.1595T>A (p.Leu532Gln)
c.1586T>A (p.Leu529Gln)
c.1613T>A (p.Leu538Gln)
c.1610T>A (p.Leu537Gln)
c.1592T>A (p.Leu531Gln)
c.1535T>A (p.Leu512Gln)
c.35T>A (p.Leu12Gln)
c.1583T>A (p.Leu528Gln)
c.1589T>A (p.Leu530Gln)
c.1505T>A (p.Leu502Gln)
c.1433T>A (p.Leu478Gln)
c.728T>A (p.Leu243Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.137762777T>CCA375769496EHMT1c.1604T>C (p.Leu535Pro)
c.1490T>C (p.Leu497Pro)
c.1511T>C (p.Leu504Pro)
c.1644T>C (n.1644T>C)
c.1549T>C
c.1231T>C
c.773T>C (p.Leu258Pro)
c.*1339T>C (n.*1339T>C)
c.461T>C (p.Leu154Pro)
c.296T>C (p.Leu99Pro)
c.1595T>C (p.Leu532Pro)
c.1586T>C (p.Leu529Pro)
c.1613T>C (p.Leu538Pro)
c.1610T>C (p.Leu537Pro)
c.1592T>C (p.Leu531Pro)
c.1535T>C (p.Leu512Pro)
c.35T>C (p.Leu12Pro)
c.1583T>C (p.Leu528Pro)
c.1589T>C (p.Leu530Pro)
c.1505T>C (p.Leu502Pro)
c.1433T>C (p.Leu478Pro)
c.728T>C (p.Leu243Pro)
 ClinVar dbSNP
9g.137762777T>GCA375769500EHMT1c.1604T>G (p.Leu535Arg)
c.1490T>G (p.Leu497Arg)
c.1511T>G (p.Leu504Arg)
c.1644T>G (n.1644T>G)
c.1549T>G
c.1231T>G
c.773T>G (p.Leu258Arg)
c.*1339T>G (n.*1339T>G)
c.461T>G (p.Leu154Arg)
c.296T>G (p.Leu99Arg)
c.1595T>G (p.Leu532Arg)
c.1586T>G (p.Leu529Arg)
c.1613T>G (p.Leu538Arg)
c.1610T>G (p.Leu537Arg)
c.1592T>G (p.Leu531Arg)
c.1535T>G (p.Leu512Arg)
c.35T>G (p.Leu12Arg)
c.1583T>G (p.Leu528Arg)
c.1589T>G (p.Leu530Arg)
c.1505T>G (p.Leu502Arg)
c.1433T>G (p.Leu478Arg)
c.728T>G (p.Leu243Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137762777T=CA1884659593EHMT1c.1604T= (p.Leu535=)
c.1490T= (p.Leu497=)
c.1511T= (p.Leu504=)
c.1644T= (n.1644T=)
c.1549T=
c.1231T=
c.773T= (p.Leu258=)
c.*1339T= (n.*1339T=)
c.461T= (p.Leu154=)
c.296T= (p.Leu99=)
c.1595T= (p.Leu532=)
c.1586T= (p.Leu529=)
c.1613T= (p.Leu538=)
c.1610T= (p.Leu537=)
c.1592T= (p.Leu531=)
c.1535T= (p.Leu512=)
c.35T= (p.Leu12=)
c.1583T= (p.Leu528=)
c.1589T= (p.Leu530=)
c.1505T= (p.Leu502=)
c.1433T= (p.Leu478=)
c.728T= (p.Leu243=)
9g.137762778G>ACA467873913EHMT1c.1605G>A (p.Leu535=)
c.1491G>A (p.Leu497=)
c.1512G>A (p.Leu504=)
c.1645G>A (n.1645G>A)
c.1550G>A
c.1232G>A
c.774G>A (p.Leu258=)
c.*1340G>A (n.*1340G>A)
c.462G>A (p.Leu154=)
c.297G>A (p.Leu99=)
c.1596G>A (p.Leu532=)
c.1587G>A (p.Leu529=)
c.1614G>A (p.Leu538=)
c.1611G>A (p.Leu537=)
c.1593G>A (p.Leu531=)
c.1536G>A (p.Leu512=)
c.36G>A (p.Leu12=)
c.1584G>A (p.Leu528=)
c.1590G>A (p.Leu530=)
c.1506G>A (p.Leu502=)
c.1434G>A (p.Leu478=)
c.729G>A (p.Leu243=)
9g.137762778G>CCA467873914EHMT1c.1605G>C (p.Leu535=)
c.1491G>C (p.Leu497=)
c.1512G>C (p.Leu504=)
c.1645G>C (n.1645G>C)
c.1550G>C
c.1232G>C
c.774G>C (p.Leu258=)
c.*1340G>C (n.*1340G>C)
c.462G>C (p.Leu154=)
c.297G>C (p.Leu99=)
c.1596G>C (p.Leu532=)
c.1587G>C (p.Leu529=)
c.1614G>C (p.Leu538=)
c.1611G>C (p.Leu537=)
c.1593G>C (p.Leu531=)
c.1536G>C (p.Leu512=)
c.36G>C (p.Leu12=)
c.1584G>C (p.Leu528=)
c.1590G>C (p.Leu530=)
c.1506G>C (p.Leu502=)
c.1434G>C (p.Leu478=)
c.729G>C (p.Leu243=)
9g.137762778G>TCA467873915EHMT1c.1605G>T (p.Leu535=)
c.1491G>T (p.Leu497=)
c.1512G>T (p.Leu504=)
c.1645G>T (n.1645G>T)
c.1550G>T
c.1232G>T
c.774G>T (p.Leu258=)
c.*1340G>T (n.*1340G>T)
c.462G>T (p.Leu154=)
c.297G>T (p.Leu99=)
c.1596G>T (p.Leu532=)
c.1587G>T (p.Leu529=)
c.1614G>T (p.Leu538=)
c.1611G>T (p.Leu537=)
c.1593G>T (p.Leu531=)
c.1536G>T (p.Leu512=)
c.36G>T (p.Leu12=)
c.1584G>T (p.Leu528=)
c.1590G>T (p.Leu530=)
c.1506G>T (p.Leu502=)
c.1434G>T (p.Leu478=)
c.729G>T (p.Leu243=)
9g.137762779G>ACA375769503EHMT1c.1606G>A (p.Ala536Thr)
c.1492G>A (p.Ala498Thr)
c.1513G>A (p.Ala505Thr)
c.1646G>A (n.1646G>A)
c.1551G>A
c.1233G>A
c.775G>A (p.Ala259Thr)
c.*1341G>A (n.*1341G>A)
c.463G>A (p.Ala155Thr)
c.298G>A (p.Ala100Thr)
c.1597G>A (p.Ala533Thr)
c.1588G>A (p.Ala530Thr)
c.1615G>A (p.Ala539Thr)
c.1612G>A (p.Ala538Thr)
c.1594G>A (p.Ala532Thr)
c.1537G>A (p.Ala513Thr)
c.37G>A (p.Ala13Thr)
c.1585G>A (p.Ala529Thr)
c.1591G>A (p.Ala531Thr)
c.1507G>A (p.Ala503Thr)
c.1435G>A (p.Ala479Thr)
c.730G>A (p.Ala244Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.137762779G>CCA375769507EHMT1c.1606G>C (p.Ala536Pro)
c.1492G>C (p.Ala498Pro)
c.1513G>C (p.Ala505Pro)
c.1646G>C (n.1646G>C)
c.1551G>C
c.1233G>C
c.775G>C (p.Ala259Pro)
c.*1341G>C (n.*1341G>C)
c.463G>C (p.Ala155Pro)
c.298G>C (p.Ala100Pro)
c.1597G>C (p.Ala533Pro)
c.1588G>C (p.Ala530Pro)
c.1615G>C (p.Ala539Pro)
c.1612G>C (p.Ala538Pro)
c.1594G>C (p.Ala532Pro)
c.1537G>C (p.Ala513Pro)
c.37G>C (p.Ala13Pro)
c.1585G>C (p.Ala529Pro)
c.1591G>C (p.Ala531Pro)
c.1507G>C (p.Ala503Pro)
c.1435G>C (p.Ala479Pro)
c.730G>C (p.Ala244Pro)
9g.137762779G=CA1884659594EHMT1c.1606G= (p.Ala536=)
c.1492G= (p.Ala498=)
c.1513G= (p.Ala505=)
c.1646G= (n.1646G=)
c.1551G=
c.1233G=
c.775G= (p.Ala259=)
c.*1341G= (n.*1341G=)
c.463G= (p.Ala155=)
c.298G= (p.Ala100=)
c.1597G= (p.Ala533=)
c.1588G= (p.Ala530=)
c.1615G= (p.Ala539=)
c.1612G= (p.Ala538=)
c.1594G= (p.Ala532=)
c.1537G= (p.Ala513=)
c.37G= (p.Ala13=)
c.1585G= (p.Ala529=)
c.1591G= (p.Ala531=)
c.1507G= (p.Ala503=)
c.1435G= (p.Ala479=)
c.730G= (p.Ala244=)
9g.137762779G>TCA375769510EHMT1c.1606G>T (p.Ala536Ser)
c.1492G>T (p.Ala498Ser)
c.1513G>T (p.Ala505Ser)
c.1646G>T (n.1646G>T)
c.1551G>T
c.1233G>T
c.775G>T (p.Ala259Ser)
c.*1341G>T (n.*1341G>T)
c.463G>T (p.Ala155Ser)
c.298G>T (p.Ala100Ser)
c.1597G>T (p.Ala533Ser)
c.1588G>T (p.Ala530Ser)
c.1615G>T (p.Ala539Ser)
c.1612G>T (p.Ala538Ser)
c.1594G>T (p.Ala532Ser)
c.1537G>T (p.Ala513Ser)
c.37G>T (p.Ala13Ser)
c.1585G>T (p.Ala529Ser)
c.1591G>T (p.Ala531Ser)
c.1507G>T (p.Ala503Ser)
c.1435G>T (p.Ala479Ser)
c.730G>T (p.Ala244Ser)
 gnomAD v4
9g.137762780C>ACA375769515EHMT1c.1607C>A (p.Ala536Asp)
c.1493C>A (p.Ala498Asp)
c.1514C>A (p.Ala505Asp)
c.1647C>A (n.1647C>A)
c.1552C>A
c.1234C>A
c.776C>A (p.Ala259Asp)
c.*1342C>A (n.*1342C>A)
c.464C>A (p.Ala155Asp)
c.299C>A (p.Ala100Asp)
c.1598C>A (p.Ala533Asp)
c.1589C>A (p.Ala530Asp)
c.1616C>A (p.Ala539Asp)
c.1613C>A (p.Ala538Asp)
c.1595C>A (p.Ala532Asp)
c.1538C>A (p.Ala513Asp)
c.38C>A (p.Ala13Asp)
c.1586C>A (p.Ala529Asp)
c.1592C>A (p.Ala531Asp)
c.1508C>A (p.Ala503Asp)
c.1436C>A (p.Ala479Asp)
c.731C>A (p.Ala244Asp)
9g.137762780C>GCA375769519EHMT1c.1607C>G (p.Ala536Gly)
c.1493C>G (p.Ala498Gly)
c.1514C>G (p.Ala505Gly)
c.1647C>G (n.1647C>G)
c.1552C>G
c.1234C>G
c.776C>G (p.Ala259Gly)
c.*1342C>G (n.*1342C>G)
c.464C>G (p.Ala155Gly)
c.299C>G (p.Ala100Gly)
c.1598C>G (p.Ala533Gly)
c.1589C>G (p.Ala530Gly)
c.1616C>G (p.Ala539Gly)
c.1613C>G (p.Ala538Gly)
c.1595C>G (p.Ala532Gly)
c.1538C>G (p.Ala513Gly)
c.38C>G (p.Ala13Gly)
c.1586C>G (p.Ala529Gly)
c.1592C>G (p.Ala531Gly)
c.1508C>G (p.Ala503Gly)
c.1436C>G (p.Ala479Gly)
c.731C>G (p.Ala244Gly)
9g.137762780C>TCA375769524EHMT1c.1607C>T (p.Ala536Val)
c.1493C>T (p.Ala498Val)
c.1514C>T (p.Ala505Val)
c.1647C>T (n.1647C>T)
c.1552C>T
c.1234C>T
c.776C>T (p.Ala259Val)
c.*1342C>T (n.*1342C>T)
c.464C>T (p.Ala155Val)
c.299C>T (p.Ala100Val)
c.1598C>T (p.Ala533Val)
c.1589C>T (p.Ala530Val)
c.1616C>T (p.Ala539Val)
c.1613C>T (p.Ala538Val)
c.1595C>T (p.Ala532Val)
c.1538C>T (p.Ala513Val)
c.38C>T (p.Ala13Val)
c.1586C>T (p.Ala529Val)
c.1592C>T (p.Ala531Val)
c.1508C>T (p.Ala503Val)
c.1436C>T (p.Ala479Val)
c.731C>T (p.Ala244Val)
9g.137762780_137762804delinsTTGTTGGCCAGTGCA2580081000EHMT1c.1607_1631delinsTTGTTGGCCAGTG (p.Ala536_Glu544delinsValValGlyGlnTrp)
c.1493_1517delinsTTGTTGGCCAGTG (p.Ala498_Glu506delinsValValGlyGlnTrp)
c.1514_1538delinsTTGTTGGCCAGTG (p.Ala505_Glu513delinsValValGlyGlnTrp)
c.1647_1671delinsTTGTTGGCCAGTG (n.1647_1671delinsTTGTTGGCCAGTG)
c.1552_1576delinsTTGTTGGCCAGTG
c.1234_1258delinsTTGTTGGCCAGTG
c.776_800delinsTTGTTGGCCAGTG (p.Ala259_Glu267delinsValValGlyGlnTrp)
c.*1342_*1366delinsTTGTTGGCCAGTG (n.*1342_*1366delinsTTGTTGGCCAGTG)
c.464_488delinsTTGTTGGCCAGTG (p.Ala155_Glu163delinsValValGlyGlnTrp)
c.299_323delinsTTGTTGGCCAGTG (p.Ala100_Glu108delinsValValGlyGlnTrp)
c.1598_1622delinsTTGTTGGCCAGTG (p.Ala533_Glu541delinsValValGlyGlnTrp)
c.1589_1613delinsTTGTTGGCCAGTG (p.Ala530_Glu538delinsValValGlyGlnTrp)
c.1616_1640delinsTTGTTGGCCAGTG (p.Ala539_Glu547delinsValValGlyGlnTrp)
c.1613_1637delinsTTGTTGGCCAGTG (p.Ala538_Glu546delinsValValGlyGlnTrp)
c.1595_1619delinsTTGTTGGCCAGTG (p.Ala532_Glu540delinsValValGlyGlnTrp)
c.1538_1562delinsTTGTTGGCCAGTG (p.Ala513_Glu521delinsValValGlyGlnTrp)
c.38_62delinsTTGTTGGCCAGTG (p.Ala13_Glu21delinsValValGlyGlnTrp)
c.1586_1610delinsTTGTTGGCCAGTG (p.Ala529_Glu537delinsValValGlyGlnTrp)
c.1592_1616delinsTTGTTGGCCAGTG (p.Ala531_Glu539delinsValValGlyGlnTrp)
c.1508_1532delinsTTGTTGGCCAGTG (p.Ala503_Glu511delinsValValGlyGlnTrp)
c.1436_1460delinsTTGTTGGCCAGTG (p.Ala479_Glu487delinsValValGlyGlnTrp)
c.731_755delinsTTGTTGGCCAGTG (p.Ala244_Glu252delinsValValGlyGlnTrp)
 ClinVar
9g.137762781C>ACA467873916EHMT1c.1608C>A (p.Ala536=)
c.1494C>A (p.Ala498=)
c.1515C>A (p.Ala505=)
c.1648C>A (n.1648C>A)
c.1553C>A
c.1235C>A
c.777C>A (p.Ala259=)
c.*1343C>A (n.*1343C>A)
c.465C>A (p.Ala155=)
c.300C>A (p.Ala100=)
c.1599C>A (p.Ala533=)
c.1590C>A (p.Ala530=)
c.1617C>A (p.Ala539=)
c.1614C>A (p.Ala538=)
c.1596C>A (p.Ala532=)
c.1539C>A (p.Ala513=)
c.39C>A (p.Ala13=)
c.1587C>A (p.Ala529=)
c.1593C>A (p.Ala531=)
c.1509C>A (p.Ala503=)
c.1437C>A (p.Ala479=)
c.732C>A (p.Ala244=)
9g.137762781C>GCA467873917EHMT1c.1608C>G (p.Ala536=)
c.1494C>G (p.Ala498=)
c.1515C>G (p.Ala505=)
c.1648C>G (n.1648C>G)
c.1553C>G
c.1235C>G
c.777C>G (p.Ala259=)
c.*1343C>G (n.*1343C>G)
c.465C>G (p.Ala155=)
c.300C>G (p.Ala100=)
c.1599C>G (p.Ala533=)
c.1590C>G (p.Ala530=)
c.1617C>G (p.Ala539=)
c.1614C>G (p.Ala538=)
c.1596C>G (p.Ala532=)
c.1539C>G (p.Ala513=)
c.39C>G (p.Ala13=)
c.1587C>G (p.Ala529=)
c.1593C>G (p.Ala531=)
c.1509C>G (p.Ala503=)
c.1437C>G (p.Ala479=)
c.732C>G (p.Ala244=)
9g.137762781C>TCA467873918EHMT1c.1608C>T (p.Ala536=)
c.1494C>T (p.Ala498=)
c.1515C>T (p.Ala505=)
c.1648C>T (n.1648C>T)
c.1553C>T
c.1235C>T
c.777C>T (p.Ala259=)
c.*1343C>T (n.*1343C>T)
c.465C>T (p.Ala155=)
c.300C>T (p.Ala100=)
c.1599C>T (p.Ala533=)
c.1590C>T (p.Ala530=)
c.1617C>T (p.Ala539=)
c.1614C>T (p.Ala538=)
c.1596C>T (p.Ala532=)
c.1539C>T (p.Ala513=)
c.39C>T (p.Ala13=)
c.1587C>T (p.Ala529=)
c.1593C>T (p.Ala531=)
c.1509C>T (p.Ala503=)
c.1437C>T (p.Ala479=)
c.732C>T (p.Ala244=)
9g.137762782A>CCA375769531EHMT1c.1609A>C (p.Asn537His)
c.1495A>C (p.Asn499His)
c.1516A>C (p.Asn506His)
c.1649A>C (n.1649A>C)
c.1554A>C
c.1236A>C
c.778A>C (p.Asn260His)
c.*1344A>C (n.*1344A>C)
c.466A>C (p.Asn156His)
c.301A>C (p.Asn101His)
c.1600A>C (p.Asn534His)
c.1591A>C (p.Asn531His)
c.1618A>C (p.Asn540His)
c.1615A>C (p.Asn539His)
c.1597A>C (p.Asn533His)
c.1540A>C (p.Asn514His)
c.40A>C (p.Asn14His)
c.1588A>C (p.Asn530His)
c.1594A>C (p.Asn532His)
c.1510A>C (p.Asn504His)
c.1438A>C (p.Asn480His)
c.733A>C (p.Asn245His)
9g.137762782A>GCA375769538EHMT1c.1609A>G (p.Asn537Asp)
c.1495A>G (p.Asn499Asp)
c.1516A>G (p.Asn506Asp)
c.1649A>G (n.1649A>G)
c.1554A>G
c.1236A>G
c.778A>G (p.Asn260Asp)
c.*1344A>G (n.*1344A>G)
c.466A>G (p.Asn156Asp)
c.301A>G (p.Asn101Asp)
c.1600A>G (p.Asn534Asp)
c.1591A>G (p.Asn531Asp)
c.1618A>G (p.Asn540Asp)
c.1615A>G (p.Asn539Asp)
c.1597A>G (p.Asn533Asp)
c.1540A>G (p.Asn514Asp)
c.40A>G (p.Asn14Asp)
c.1588A>G (p.Asn530Asp)
c.1594A>G (p.Asn532Asp)
c.1510A>G (p.Asn504Asp)
c.1438A>G (p.Asn480Asp)
c.733A>G (p.Asn245Asp)
9g.137762782A>TCA375769534EHMT1c.1609A>T (p.Asn537Tyr)
c.1495A>T (p.Asn499Tyr)
c.1516A>T (p.Asn506Tyr)
c.1649A>T (n.1649A>T)
c.1554A>T
c.1236A>T
c.778A>T (p.Asn260Tyr)
c.*1344A>T (n.*1344A>T)
c.466A>T (p.Asn156Tyr)
c.301A>T (p.Asn101Tyr)
c.1600A>T (p.Asn534Tyr)
c.1591A>T (p.Asn531Tyr)
c.1618A>T (p.Asn540Tyr)
c.1615A>T (p.Asn539Tyr)
c.1597A>T (p.Asn533Tyr)
c.1540A>T (p.Asn514Tyr)
c.40A>T (p.Asn14Tyr)
c.1588A>T (p.Asn530Tyr)
c.1594A>T (p.Asn532Tyr)
c.1510A>T (p.Asn504Tyr)
c.1438A>T (p.Asn480Tyr)
c.733A>T (p.Asn245Tyr)
9g.137762783A=CA1884659595EHMT1c.1610A= (p.Asn537=)
c.1496A= (p.Asn499=)
c.1517A= (p.Asn506=)
c.1650A= (n.1650A=)
c.1555A=
c.1237A=
c.779A= (p.Asn260=)
c.*1345A= (n.*1345A=)
c.467A= (p.Asn156=)
c.302A= (p.Asn101=)
c.1601A= (p.Asn534=)
c.1592A= (p.Asn531=)
c.1619A= (p.Asn540=)
c.1616A= (p.Asn539=)
c.1598A= (p.Asn533=)
c.1541A= (p.Asn514=)
c.41A= (p.Asn14=)
c.1589A= (p.Asn530=)
c.1595A= (p.Asn532=)
c.1511A= (p.Asn504=)
c.1439A= (p.Asn480=)
c.734A= (p.Asn245=)
9g.137762783A>CCA375769539EHMT1c.1610A>C (p.Asn537Thr)
c.1496A>C (p.Asn499Thr)
c.1517A>C (p.Asn506Thr)
c.1650A>C (n.1650A>C)
c.1555A>C
c.1237A>C
c.779A>C (p.Asn260Thr)
c.*1345A>C (n.*1345A>C)
c.467A>C (p.Asn156Thr)
c.302A>C (p.Asn101Thr)
c.1601A>C (p.Asn534Thr)
c.1592A>C (p.Asn531Thr)
c.1619A>C (p.Asn540Thr)
c.1616A>C (p.Asn539Thr)
c.1598A>C (p.Asn533Thr)
c.1541A>C (p.Asn514Thr)
c.41A>C (p.Asn14Thr)
c.1589A>C (p.Asn530Thr)
c.1595A>C (p.Asn532Thr)
c.1511A>C (p.Asn504Thr)
c.1439A>C (p.Asn480Thr)
c.734A>C (p.Asn245Thr)
9g.137762783A>GCA375769541EHMT1c.1610A>G (p.Asn537Ser)
c.1496A>G (p.Asn499Ser)
c.1517A>G (p.Asn506Ser)
c.1650A>G (n.1650A>G)
c.1555A>G
c.1237A>G
c.779A>G (p.Asn260Ser)
c.*1345A>G (n.*1345A>G)
c.467A>G (p.Asn156Ser)
c.302A>G (p.Asn101Ser)
c.1601A>G (p.Asn534Ser)
c.1592A>G (p.Asn531Ser)
c.1619A>G (p.Asn540Ser)
c.1616A>G (p.Asn539Ser)
c.1598A>G (p.Asn533Ser)
c.1541A>G (p.Asn514Ser)
c.41A>G (p.Asn14Ser)
c.1589A>G (p.Asn530Ser)
c.1595A>G (p.Asn532Ser)
c.1511A>G (p.Asn504Ser)
c.1439A>G (p.Asn480Ser)
c.734A>G (p.Asn245Ser)
 dbSNP gnomAD v4
9g.137762783A>TCA375769540EHMT1c.1610A>T (p.Asn537Ile)
c.1496A>T (p.Asn499Ile)
c.1517A>T (p.Asn506Ile)
c.1650A>T (n.1650A>T)
c.1555A>T
c.1237A>T
c.779A>T (p.Asn260Ile)
c.*1345A>T (n.*1345A>T)
c.467A>T (p.Asn156Ile)
c.302A>T (p.Asn101Ile)
c.1601A>T (p.Asn534Ile)
c.1592A>T (p.Asn531Ile)
c.1619A>T (p.Asn540Ile)
c.1616A>T (p.Asn539Ile)
c.1598A>T (p.Asn533Ile)
c.1541A>T (p.Asn514Ile)
c.41A>T (p.Asn14Ile)
c.1589A>T (p.Asn530Ile)
c.1595A>T (p.Asn532Ile)
c.1511A>T (p.Asn504Ile)
c.1439A>T (p.Asn480Ile)
c.734A>T (p.Asn245Ile)
 gnomAD v4
9g.137762784C>ACA375769542EHMT1c.1611C>A (p.Asn537Lys)
c.1497C>A (p.Asn499Lys)
c.1518C>A (p.Asn506Lys)
c.1651C>A (n.1651C>A)
c.1556C>A
c.1238C>A
c.780C>A (p.Asn260Lys)
c.*1346C>A (n.*1346C>A)
c.468C>A (p.Asn156Lys)
c.303C>A (p.Asn101Lys)
c.1602C>A (p.Asn534Lys)
c.1593C>A (p.Asn531Lys)
c.1620C>A (p.Asn540Lys)
c.1617C>A (p.Asn539Lys)
c.1599C>A (p.Asn533Lys)
c.1542C>A (p.Asn514Lys)
c.42C>A (p.Asn14Lys)
c.1590C>A (p.Asn530Lys)
c.1596C>A (p.Asn532Lys)
c.1512C>A (p.Asn504Lys)
c.1440C>A (p.Asn480Lys)
c.735C>A (p.Asn245Lys)
9g.137762784C>GCA375769544EHMT1c.1611C>G (p.Asn537Lys)
c.1497C>G (p.Asn499Lys)
c.1518C>G (p.Asn506Lys)
c.1651C>G (n.1651C>G)
c.1556C>G
c.1238C>G
c.780C>G (p.Asn260Lys)
c.*1346C>G (n.*1346C>G)
c.468C>G (p.Asn156Lys)
c.303C>G (p.Asn101Lys)
c.1602C>G (p.Asn534Lys)
c.1593C>G (p.Asn531Lys)
c.1620C>G (p.Asn540Lys)
c.1617C>G (p.Asn539Lys)
c.1599C>G (p.Asn533Lys)
c.1542C>G (p.Asn514Lys)
c.42C>G (p.Asn14Lys)
c.1590C>G (p.Asn530Lys)
c.1596C>G (p.Asn532Lys)
c.1512C>G (p.Asn504Lys)
c.1440C>G (p.Asn480Lys)
c.735C>G (p.Asn245Lys)
9g.137762784C>TCA467873919EHMT1c.1611C>T (p.Asn537=)
c.1497C>T (p.Asn499=)
c.1518C>T (p.Asn506=)
c.1651C>T (n.1651C>T)
c.1556C>T
c.1238C>T
c.780C>T (p.Asn260=)
c.*1346C>T (n.*1346C>T)
c.468C>T (p.Asn156=)
c.303C>T (p.Asn101=)
c.1602C>T (p.Asn534=)
c.1593C>T (p.Asn531=)
c.1620C>T (p.Asn540=)
c.1617C>T (p.Asn539=)
c.1599C>T (p.Asn533=)
c.1542C>T (p.Asn514=)
c.42C>T (p.Asn14=)
c.1590C>T (p.Asn530=)
c.1596C>T (p.Asn532=)
c.1512C>T (p.Asn504=)
c.1440C>T (p.Asn480=)
c.735C>T (p.Asn245=)
 gnomAD v4
9g.137762785A>CCA375769549EHMT1c.1612A>C (p.Asn538His)
c.1498A>C (p.Asn500His)
c.1519A>C (p.Asn507His)
c.1652A>C (n.1652A>C)
c.1557A>C
c.1239A>C
c.781A>C (p.Asn261His)
c.*1347A>C (n.*1347A>C)
c.469A>C (p.Asn157His)
c.304A>C (p.Asn102His)
c.1603A>C (p.Asn535His)
c.1594A>C (p.Asn532His)
c.1621A>C (p.Asn541His)
c.1618A>C (p.Asn540His)
c.1600A>C (p.Asn534His)
c.1543A>C (p.Asn515His)
c.43A>C (p.Asn15His)
c.1591A>C (p.Asn531His)
c.1597A>C (p.Asn533His)
c.1513A>C (p.Asn505His)
c.1441A>C (p.Asn481His)
c.736A>C (p.Asn246His)
9g.137762785A>GCA375769552EHMT1c.1612A>G (p.Asn538Asp)
c.1498A>G (p.Asn500Asp)
c.1519A>G (p.Asn507Asp)
c.1652A>G (n.1652A>G)
c.1557A>G
c.1239A>G
c.781A>G (p.Asn261Asp)
c.*1347A>G (n.*1347A>G)
c.469A>G (p.Asn157Asp)
c.304A>G (p.Asn102Asp)
c.1603A>G (p.Asn535Asp)
c.1594A>G (p.Asn532Asp)
c.1621A>G (p.Asn541Asp)
c.1618A>G (p.Asn540Asp)
c.1600A>G (p.Asn534Asp)
c.1543A>G (p.Asn515Asp)
c.43A>G (p.Asn15Asp)
c.1591A>G (p.Asn531Asp)
c.1597A>G (p.Asn533Asp)
c.1513A>G (p.Asn505Asp)
c.1441A>G (p.Asn481Asp)
c.736A>G (p.Asn246Asp)
 gnomAD v4
9g.137762785A>TCA375769557EHMT1c.1612A>T (p.Asn538Tyr)
c.1498A>T (p.Asn500Tyr)
c.1519A>T (p.Asn507Tyr)
c.1652A>T (n.1652A>T)
c.1557A>T
c.1239A>T
c.781A>T (p.Asn261Tyr)
c.*1347A>T (n.*1347A>T)
c.469A>T (p.Asn157Tyr)
c.304A>T (p.Asn102Tyr)
c.1603A>T (p.Asn535Tyr)
c.1594A>T (p.Asn532Tyr)
c.1621A>T (p.Asn541Tyr)
c.1618A>T (p.Asn540Tyr)
c.1600A>T (p.Asn534Tyr)
c.1543A>T (p.Asn515Tyr)
c.43A>T (p.Asn15Tyr)
c.1591A>T (p.Asn531Tyr)
c.1597A>T (p.Asn533Tyr)
c.1513A>T (p.Asn505Tyr)
c.1441A>T (p.Asn481Tyr)
c.736A>T (p.Asn246Tyr)
9g.137762786A=CA1884659596EHMT1c.1613A= (p.Asn538=)
c.1499A= (p.Asn500=)
c.1520A= (p.Asn507=)
c.1653A= (n.1653A=)
c.1558A=
c.1240A=
c.782A= (p.Asn261=)
c.*1348A= (n.*1348A=)
c.470A= (p.Asn157=)
c.305A= (p.Asn102=)
c.1604A= (p.Asn535=)
c.1595A= (p.Asn532=)
c.1622A= (p.Asn541=)
c.1619A= (p.Asn540=)
c.1601A= (p.Asn534=)
c.1544A= (p.Asn515=)
c.44A= (p.Asn15=)
c.1592A= (p.Asn531=)
c.1598A= (p.Asn533=)
c.1514A= (p.Asn505=)
c.1442A= (p.Asn481=)
c.737A= (p.Asn246=)
9g.137762786A>CCA375769561EHMT1c.1613A>C (p.Asn538Thr)
c.1499A>C (p.Asn500Thr)
c.1520A>C (p.Asn507Thr)
c.1653A>C (n.1653A>C)
c.1558A>C
c.1240A>C
c.782A>C (p.Asn261Thr)
c.*1348A>C (n.*1348A>C)
c.470A>C (p.Asn157Thr)
c.305A>C (p.Asn102Thr)
c.1604A>C (p.Asn535Thr)
c.1595A>C (p.Asn532Thr)
c.1622A>C (p.Asn541Thr)
c.1619A>C (p.Asn540Thr)
c.1601A>C (p.Asn534Thr)
c.1544A>C (p.Asn515Thr)
c.44A>C (p.Asn15Thr)
c.1592A>C (p.Asn531Thr)
c.1598A>C (p.Asn533Thr)
c.1514A>C (p.Asn505Thr)
c.1442A>C (p.Asn481Thr)
c.737A>C (p.Asn246Thr)
9g.137762786A>GCA375769563EHMT1c.1613A>G (p.Asn538Ser)
c.1499A>G (p.Asn500Ser)
c.1520A>G (p.Asn507Ser)
c.1653A>G (n.1653A>G)
c.1558A>G
c.1240A>G
c.782A>G (p.Asn261Ser)
c.*1348A>G (n.*1348A>G)
c.470A>G (p.Asn157Ser)
c.305A>G (p.Asn102Ser)
c.1604A>G (p.Asn535Ser)
c.1595A>G (p.Asn532Ser)
c.1622A>G (p.Asn541Ser)
c.1619A>G (p.Asn540Ser)
c.1601A>G (p.Asn534Ser)
c.1544A>G (p.Asn515Ser)
c.44A>G (p.Asn15Ser)
c.1592A>G (p.Asn531Ser)
c.1598A>G (p.Asn533Ser)
c.1514A>G (p.Asn505Ser)
c.1442A>G (p.Asn481Ser)
c.737A>G (p.Asn246Ser)
 ClinVar dbSNP gnomAD v4
9g.137762786A>TCA375769575EHMT1c.1613A>T (p.Asn538Ile)
c.1499A>T (p.Asn500Ile)
c.1520A>T (p.Asn507Ile)
c.1653A>T (n.1653A>T)
c.1558A>T
c.1240A>T
c.782A>T (p.Asn261Ile)
c.*1348A>T (n.*1348A>T)
c.470A>T (p.Asn157Ile)
c.305A>T (p.Asn102Ile)
c.1604A>T (p.Asn535Ile)
c.1595A>T (p.Asn532Ile)
c.1622A>T (p.Asn541Ile)
c.1619A>T (p.Asn540Ile)
c.1601A>T (p.Asn534Ile)
c.1544A>T (p.Asn515Ile)
c.44A>T (p.Asn15Ile)
c.1592A>T (p.Asn531Ile)
c.1598A>T (p.Asn533Ile)
c.1514A>T (p.Asn505Ile)
c.1442A>T (p.Asn481Ile)
c.737A>T (p.Asn246Ile)
 gnomAD v4
9g.137762787C>ACA5374672EHMT1c.1614C>A (p.Asn538Lys)
c.1500C>A (p.Asn500Lys)
c.1521C>A (p.Asn507Lys)
c.1654C>A (n.1654C>A)
c.1559C>A
c.1241C>A
c.783C>A (p.Asn261Lys)
c.*1349C>A (n.*1349C>A)
c.471C>A (p.Asn157Lys)
c.306C>A (p.Asn102Lys)
c.1605C>A (p.Asn535Lys)
c.1596C>A (p.Asn532Lys)
c.1623C>A (p.Asn541Lys)
c.1620C>A (p.Asn540Lys)
c.1602C>A (p.Asn534Lys)
c.1545C>A (p.Asn515Lys)
c.45C>A (p.Asn15Lys)
c.1593C>A (p.Asn531Lys)
c.1599C>A (p.Asn533Lys)
c.1515C>A (p.Asn505Lys)
c.1443C>A (p.Asn481Lys)
c.738C>A (p.Asn246Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137762787C=CA1884659597EHMT1c.1614C= (p.Asn538=)
c.1500C= (p.Asn500=)
c.1521C= (p.Asn507=)
c.1654C= (n.1654C=)
c.1559C=
c.1241C=
c.783C= (p.Asn261=)
c.*1349C= (n.*1349C=)
c.471C= (p.Asn157=)
c.306C= (p.Asn102=)
c.1605C= (p.Asn535=)
c.1596C= (p.Asn532=)
c.1623C= (p.Asn541=)
c.1620C= (p.Asn540=)
c.1602C= (p.Asn534=)
c.1545C= (p.Asn515=)
c.45C= (p.Asn15=)
c.1593C= (p.Asn531=)
c.1599C= (p.Asn533=)
c.1515C= (p.Asn505=)
c.1443C= (p.Asn481=)
c.738C= (p.Asn246=)
9g.137762787C>GCA375769578EHMT1c.1614C>G (p.Asn538Lys)
c.1500C>G (p.Asn500Lys)
c.1521C>G (p.Asn507Lys)
c.1654C>G (n.1654C>G)
c.1559C>G
c.1241C>G
c.783C>G (p.Asn261Lys)
c.*1349C>G (n.*1349C>G)
c.471C>G (p.Asn157Lys)
c.306C>G (p.Asn102Lys)
c.1605C>G (p.Asn535Lys)
c.1596C>G (p.Asn532Lys)
c.1623C>G (p.Asn541Lys)
c.1620C>G (p.Asn540Lys)
c.1602C>G (p.Asn534Lys)
c.1545C>G (p.Asn515Lys)
c.45C>G (p.Asn15Lys)
c.1593C>G (p.Asn531Lys)
c.1599C>G (p.Asn533Lys)
c.1515C>G (p.Asn505Lys)
c.1443C>G (p.Asn481Lys)
c.738C>G (p.Asn246Lys)
9g.137762787C>TCA467873920EHMT1c.1614C>T (p.Asn538=)
c.1500C>T (p.Asn500=)
c.1521C>T (p.Asn507=)
c.1654C>T (n.1654C>T)
c.1559C>T
c.1241C>T
c.783C>T (p.Asn261=)
c.*1349C>T (n.*1349C>T)
c.471C>T (p.Asn157=)
c.306C>T (p.Asn102=)
c.1605C>T (p.Asn535=)
c.1596C>T (p.Asn532=)
c.1623C>T (p.Asn541=)
c.1620C>T (p.Asn540=)
c.1602C>T (p.Asn534=)
c.1545C>T (p.Asn515=)
c.45C>T (p.Asn15=)
c.1593C>T (p.Asn531=)
c.1599C>T (p.Asn533=)
c.1515C>T (p.Asn505=)
c.1443C>T (p.Asn481=)
c.738C>T (p.Asn246=)
 gnomAD v4
9g.137762788C>ACA375769581EHMT1c.1615C>A (p.Gln539Lys)
c.1501C>A (p.Gln501Lys)
c.1522C>A (p.Gln508Lys)
c.1655C>A (n.1655C>A)
c.1560C>A
c.1242C>A
c.784C>A (p.Gln262Lys)
c.*1350C>A (n.*1350C>A)
c.472C>A (p.Gln158Lys)
c.307C>A (p.Gln103Lys)
c.1606C>A (p.Gln536Lys)
c.1597C>A (p.Gln533Lys)
c.1624C>A (p.Gln542Lys)
c.1621C>A (p.Gln541Lys)
c.1603C>A (p.Gln535Lys)
c.1546C>A (p.Gln516Lys)
c.46C>A (p.Gln16Lys)
c.1594C>A (p.Gln532Lys)
c.1600C>A (p.Gln534Lys)
c.1516C>A (p.Gln506Lys)
c.1444C>A (p.Gln482Lys)
c.739C>A (p.Gln247Lys)
9g.137762788C=CA1884659598EHMT1c.1615C= (p.Gln539=)
c.1501C= (p.Gln501=)
c.1522C= (p.Gln508=)
c.1655C= (n.1655C=)
c.1560C=
c.1242C=
c.784C= (p.Gln262=)
c.*1350C= (n.*1350C=)
c.472C= (p.Gln158=)
c.307C= (p.Gln103=)
c.1606C= (p.Gln536=)
c.1597C= (p.Gln533=)
c.1624C= (p.Gln542=)
c.1621C= (p.Gln541=)
c.1603C= (p.Gln535=)
c.1546C= (p.Gln516=)
c.46C= (p.Gln16=)
c.1594C= (p.Gln532=)
c.1600C= (p.Gln534=)
c.1516C= (p.Gln506=)
c.1444C= (p.Gln482=)
c.739C= (p.Gln247=)
9g.137762788C>GCA375769584EHMT1c.1615C>G (p.Gln539Glu)
c.1501C>G (p.Gln501Glu)
c.1522C>G (p.Gln508Glu)
c.1655C>G (n.1655C>G)
c.1560C>G
c.1242C>G
c.784C>G (p.Gln262Glu)
c.*1350C>G (n.*1350C>G)
c.472C>G (p.Gln158Glu)
c.307C>G (p.Gln103Glu)
c.1606C>G (p.Gln536Glu)
c.1597C>G (p.Gln533Glu)
c.1624C>G (p.Gln542Glu)
c.1621C>G (p.Gln541Glu)
c.1603C>G (p.Gln535Glu)
c.1546C>G (p.Gln516Glu)
c.46C>G (p.Gln16Glu)
c.1594C>G (p.Gln532Glu)
c.1600C>G (p.Gln534Glu)
c.1516C>G (p.Gln506Glu)
c.1444C>G (p.Gln482Glu)
c.739C>G (p.Gln247Glu)
 dbSNP
9g.137762788C>TCA375769589EHMT1c.1615C>T (p.Gln539Ter)
c.1501C>T (p.Gln501Ter)
c.1522C>T (p.Gln508Ter)
c.1655C>T (n.1655C>T)
c.1560C>T
c.1242C>T
c.784C>T (p.Gln262Ter)
c.*1350C>T (n.*1350C>T)
c.472C>T (p.Gln158Ter)
c.307C>T (p.Gln103Ter)
c.1606C>T (p.Gln536Ter)
c.1597C>T (p.Gln533Ter)
c.1624C>T (p.Gln542Ter)
c.1621C>T (p.Gln541Ter)
c.1603C>T (p.Gln535Ter)
c.1546C>T (p.Gln516Ter)
c.46C>T (p.Gln16Ter)
c.1594C>T (p.Gln532Ter)
c.1600C>T (p.Gln534Ter)
c.1516C>T (p.Gln506Ter)
c.1444C>T (p.Gln482Ter)
c.739C>T (p.Gln247Ter)
9g.137762789A>CCA375769591EHMT1c.1616A>C (p.Gln539Pro)
c.1502A>C (p.Gln501Pro)
c.1523A>C (p.Gln508Pro)
c.1656A>C (n.1656A>C)
c.1561A>C
c.1243A>C
c.785A>C (p.Gln262Pro)
c.*1351A>C (n.*1351A>C)
c.473A>C (p.Gln158Pro)
c.308A>C (p.Gln103Pro)
c.1607A>C (p.Gln536Pro)
c.1598A>C (p.Gln533Pro)
c.1625A>C (p.Gln542Pro)
c.1622A>C (p.Gln541Pro)
c.1604A>C (p.Gln535Pro)
c.1547A>C (p.Gln516Pro)
c.47A>C (p.Gln16Pro)
c.1595A>C (p.Gln532Pro)
c.1601A>C (p.Gln534Pro)
c.1517A>C (p.Gln506Pro)
c.1445A>C (p.Gln482Pro)
c.740A>C (p.Gln247Pro)
9g.137762789A>GCA375769592EHMT1c.1616A>G (p.Gln539Arg)
c.1502A>G (p.Gln501Arg)
c.1523A>G (p.Gln508Arg)
c.1656A>G (n.1656A>G)
c.1561A>G
c.1243A>G
c.785A>G (p.Gln262Arg)
c.*1351A>G (n.*1351A>G)
c.473A>G (p.Gln158Arg)
c.308A>G (p.Gln103Arg)
c.1607A>G (p.Gln536Arg)
c.1598A>G (p.Gln533Arg)
c.1625A>G (p.Gln542Arg)
c.1622A>G (p.Gln541Arg)
c.1604A>G (p.Gln535Arg)
c.1547A>G (p.Gln516Arg)
c.47A>G (p.Gln16Arg)
c.1595A>G (p.Gln532Arg)
c.1601A>G (p.Gln534Arg)
c.1517A>G (p.Gln506Arg)
c.1445A>G (p.Gln482Arg)
c.740A>G (p.Gln247Arg)
9g.137762789A>TCA375769593EHMT1c.1616A>T (p.Gln539Leu)
c.1502A>T (p.Gln501Leu)
c.1523A>T (p.Gln508Leu)
c.1656A>T (n.1656A>T)
c.1561A>T
c.1243A>T
c.785A>T (p.Gln262Leu)
c.*1351A>T (n.*1351A>T)
c.473A>T (p.Gln158Leu)
c.308A>T (p.Gln103Leu)
c.1607A>T (p.Gln536Leu)
c.1598A>T (p.Gln533Leu)
c.1625A>T (p.Gln542Leu)
c.1622A>T (p.Gln541Leu)
c.1604A>T (p.Gln535Leu)
c.1547A>T (p.Gln516Leu)
c.47A>T (p.Gln16Leu)
c.1595A>T (p.Gln532Leu)
c.1601A>T (p.Gln534Leu)
c.1517A>T (p.Gln506Leu)
c.1445A>T (p.Gln482Leu)
c.740A>T (p.Gln247Leu)
9g.137762790G>ACA5374673EHMT1c.1617G>A (p.Gln539=)
c.1503G>A (p.Gln501=)
c.1524G>A (p.Gln508=)
c.1657G>A (n.1657G>A)
c.1562G>A
c.1244G>A
c.786G>A (p.Gln262=)
c.*1352G>A (n.*1352G>A)
c.474G>A (p.Gln158=)
c.309G>A (p.Gln103=)
c.1608G>A (p.Gln536=)
c.1599G>A (p.Gln533=)
c.1626G>A (p.Gln542=)
c.1623G>A (p.Gln541=)
c.1605G>A (p.Gln535=)
c.1548G>A (p.Gln516=)
c.48G>A (p.Gln16=)
c.1596G>A (p.Gln532=)
c.1602G>A (p.Gln534=)
c.1518G>A (p.Gln506=)
c.1446G>A (p.Gln482=)
c.741G>A (p.Gln247=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762790G>CCA375769602EHMT1c.1617G>C (p.Gln539His)
c.1503G>C (p.Gln501His)
c.1524G>C (p.Gln508His)
c.1657G>C (n.1657G>C)
c.1562G>C
c.1244G>C
c.786G>C (p.Gln262His)
c.*1352G>C (n.*1352G>C)
c.474G>C (p.Gln158His)
c.309G>C (p.Gln103His)
c.1608G>C (p.Gln536His)
c.1599G>C (p.Gln533His)
c.1626G>C (p.Gln542His)
c.1623G>C (p.Gln541His)
c.1605G>C (p.Gln535His)
c.1548G>C (p.Gln516His)
c.48G>C (p.Gln16His)
c.1596G>C (p.Gln532His)
c.1602G>C (p.Gln534His)
c.1518G>C (p.Gln506His)
c.1446G>C (p.Gln482His)
c.741G>C (p.Gln247His)
9g.137762790G=CA1884659599EHMT1c.1617G= (p.Gln539=)
c.1503G= (p.Gln501=)
c.1524G= (p.Gln508=)
c.1657G= (n.1657G=)
c.1562G=
c.1244G=
c.786G= (p.Gln262=)
c.*1352G= (n.*1352G=)
c.474G= (p.Gln158=)
c.309G= (p.Gln103=)
c.1608G= (p.Gln536=)
c.1599G= (p.Gln533=)
c.1626G= (p.Gln542=)
c.1623G= (p.Gln541=)
c.1605G= (p.Gln535=)
c.1548G= (p.Gln516=)
c.48G= (p.Gln16=)
c.1596G= (p.Gln532=)
c.1602G= (p.Gln534=)
c.1518G= (p.Gln506=)
c.1446G= (p.Gln482=)
c.741G= (p.Gln247=)
9g.137762790G>TCA375769598EHMT1c.1617G>T (p.Gln539His)
c.1503G>T (p.Gln501His)
c.1524G>T (p.Gln508His)
c.1657G>T (n.1657G>T)
c.1562G>T
c.1244G>T
c.786G>T (p.Gln262His)
c.*1352G>T (n.*1352G>T)
c.474G>T (p.Gln158His)
c.309G>T (p.Gln103His)
c.1608G>T (p.Gln536His)
c.1599G>T (p.Gln533His)
c.1626G>T (p.Gln542His)
c.1623G>T (p.Gln541His)
c.1605G>T (p.Gln535His)
c.1548G>T (p.Gln516His)
c.48G>T (p.Gln16His)
c.1596G>T (p.Gln532His)
c.1602G>T (p.Gln534His)
c.1518G>T (p.Gln506His)
c.1446G>T (p.Gln482His)
c.741G>T (p.Gln247His)
 ClinVar dbSNP
9g.137762791T>ACA375769612EHMT1c.1618T>A (p.Cys540Ser)
c.1504T>A (p.Cys502Ser)
c.1525T>A (p.Cys509Ser)
c.1658T>A (n.1658T>A)
c.1563T>A
c.1245T>A
c.787T>A (p.Cys263Ser)
c.*1353T>A (n.*1353T>A)
c.475T>A (p.Cys159Ser)
c.310T>A (p.Cys104Ser)
c.1609T>A (p.Cys537Ser)
c.1600T>A (p.Cys534Ser)
c.1627T>A (p.Cys543Ser)
c.1624T>A (p.Cys542Ser)
c.1606T>A (p.Cys536Ser)
c.1549T>A (p.Cys517Ser)
c.49T>A (p.Cys17Ser)
c.1597T>A (p.Cys533Ser)
c.1603T>A (p.Cys535Ser)
c.1519T>A (p.Cys507Ser)
c.1447T>A (p.Cys483Ser)
c.742T>A (p.Cys248Ser)
9g.137762791T>CCA375769614EHMT1c.1618T>C (p.Cys540Arg)
c.1504T>C (p.Cys502Arg)
c.1525T>C (p.Cys509Arg)
c.1658T>C (n.1658T>C)
c.1563T>C
c.1245T>C
c.787T>C (p.Cys263Arg)
c.*1353T>C (n.*1353T>C)
c.475T>C (p.Cys159Arg)
c.310T>C (p.Cys104Arg)
c.1609T>C (p.Cys537Arg)
c.1600T>C (p.Cys534Arg)
c.1627T>C (p.Cys543Arg)
c.1624T>C (p.Cys542Arg)
c.1606T>C (p.Cys536Arg)
c.1549T>C (p.Cys517Arg)
c.49T>C (p.Cys17Arg)
c.1597T>C (p.Cys533Arg)
c.1603T>C (p.Cys535Arg)
c.1519T>C (p.Cys507Arg)
c.1447T>C (p.Cys483Arg)
c.742T>C (p.Cys248Arg)
9g.137762791T>GCA375769618EHMT1c.1618T>G (p.Cys540Gly)
c.1504T>G (p.Cys502Gly)
c.1525T>G (p.Cys509Gly)
c.1658T>G (n.1658T>G)
c.1563T>G
c.1245T>G
c.787T>G (p.Cys263Gly)
c.*1353T>G (n.*1353T>G)
c.475T>G (p.Cys159Gly)
c.310T>G (p.Cys104Gly)
c.1609T>G (p.Cys537Gly)
c.1600T>G (p.Cys534Gly)
c.1627T>G (p.Cys543Gly)
c.1624T>G (p.Cys542Gly)
c.1606T>G (p.Cys536Gly)
c.1549T>G (p.Cys517Gly)
c.49T>G (p.Cys17Gly)
c.1597T>G (p.Cys533Gly)
c.1603T>G (p.Cys535Gly)
c.1519T>G (p.Cys507Gly)
c.1447T>G (p.Cys483Gly)
c.742T>G (p.Cys248Gly)
9g.137762792G>ACA375769624EHMT1c.1619G>A (p.Cys540Tyr)
c.1505G>A (p.Cys502Tyr)
c.1526G>A (p.Cys509Tyr)
c.1659G>A (n.1659G>A)
c.1564G>A
c.1246G>A
c.788G>A (p.Cys263Tyr)
c.*1354G>A (n.*1354G>A)
c.476G>A (p.Cys159Tyr)
c.311G>A (p.Cys104Tyr)
c.1610G>A (p.Cys537Tyr)
c.1601G>A (p.Cys534Tyr)
c.1628G>A (p.Cys543Tyr)
c.1625G>A (p.Cys542Tyr)
c.1607G>A (p.Cys536Tyr)
c.1550G>A (p.Cys517Tyr)
c.50G>A (p.Cys17Tyr)
c.1598G>A (p.Cys533Tyr)
c.1604G>A (p.Cys535Tyr)
c.1520G>A (p.Cys507Tyr)
c.1448G>A (p.Cys483Tyr)
c.743G>A (p.Cys248Tyr)
9g.137762792G>CCA375769629EHMT1c.1619G>C (p.Cys540Ser)
c.1505G>C (p.Cys502Ser)
c.1526G>C (p.Cys509Ser)
c.1659G>C (n.1659G>C)
c.1564G>C
c.1246G>C
c.788G>C (p.Cys263Ser)
c.*1354G>C (n.*1354G>C)
c.476G>C (p.Cys159Ser)
c.311G>C (p.Cys104Ser)
c.1610G>C (p.Cys537Ser)
c.1601G>C (p.Cys534Ser)
c.1628G>C (p.Cys543Ser)
c.1625G>C (p.Cys542Ser)
c.1607G>C (p.Cys536Ser)
c.1550G>C (p.Cys517Ser)
c.50G>C (p.Cys17Ser)
c.1598G>C (p.Cys533Ser)
c.1604G>C (p.Cys535Ser)
c.1520G>C (p.Cys507Ser)
c.1448G>C (p.Cys483Ser)
c.743G>C (p.Cys248Ser)
9g.137762792G=CA1884659600EHMT1c.1619G= (p.Cys540=)
c.1505G= (p.Cys502=)
c.1526G= (p.Cys509=)
c.1659G= (n.1659G=)
c.1564G=
c.1246G=
c.788G= (p.Cys263=)
c.*1354G= (n.*1354G=)
c.476G= (p.Cys159=)
c.311G= (p.Cys104=)
c.1610G= (p.Cys537=)
c.1601G= (p.Cys534=)
c.1628G= (p.Cys543=)
c.1625G= (p.Cys542=)
c.1607G= (p.Cys536=)
c.1550G= (p.Cys517=)
c.50G= (p.Cys17=)
c.1598G= (p.Cys533=)
c.1604G= (p.Cys535=)
c.1520G= (p.Cys507=)
c.1448G= (p.Cys483=)
c.743G= (p.Cys248=)
9g.137762792G>TCA375769632EHMT1c.1619G>T (p.Cys540Phe)
c.1505G>T (p.Cys502Phe)
c.1526G>T (p.Cys509Phe)
c.1659G>T (n.1659G>T)
c.1564G>T
c.1246G>T
c.788G>T (p.Cys263Phe)
c.*1354G>T (n.*1354G>T)
c.476G>T (p.Cys159Phe)
c.311G>T (p.Cys104Phe)
c.1610G>T (p.Cys537Phe)
c.1601G>T (p.Cys534Phe)
c.1628G>T (p.Cys543Phe)
c.1625G>T (p.Cys542Phe)
c.1607G>T (p.Cys536Phe)
c.1550G>T (p.Cys517Phe)
c.50G>T (p.Cys17Phe)
c.1598G>T (p.Cys533Phe)
c.1604G>T (p.Cys535Phe)
c.1520G>T (p.Cys507Phe)
c.1448G>T (p.Cys483Phe)
c.743G>T (p.Cys248Phe)
 dbSNP gnomAD v3 gnomAD v4
9g.137762793C>ACA375769637EHMT1c.1620C>A (p.Cys540Ter)
c.1506C>A (p.Cys502Ter)
c.1527C>A (p.Cys509Ter)
c.1660C>A (n.1660C>A)
c.1565C>A
c.1247C>A
c.789C>A (p.Cys263Ter)
c.*1355C>A (n.*1355C>A)
c.477C>A (p.Cys159Ter)
c.312C>A (p.Cys104Ter)
c.1611C>A (p.Cys537Ter)
c.1602C>A (p.Cys534Ter)
c.1629C>A (p.Cys543Ter)
c.1626C>A (p.Cys542Ter)
c.1608C>A (p.Cys536Ter)
c.1551C>A (p.Cys517Ter)
c.51C>A (p.Cys17Ter)
c.1599C>A (p.Cys533Ter)
c.1605C>A (p.Cys535Ter)
c.1521C>A (p.Cys507Ter)
c.1449C>A (p.Cys483Ter)
c.744C>A (p.Cys248Ter)
9g.137762793C>GCA375769645EHMT1c.1620C>G (p.Cys540Trp)
c.1506C>G (p.Cys502Trp)
c.1527C>G (p.Cys509Trp)
c.1660C>G (n.1660C>G)
c.1565C>G
c.1247C>G
c.789C>G (p.Cys263Trp)
c.*1355C>G (n.*1355C>G)
c.477C>G (p.Cys159Trp)
c.312C>G (p.Cys104Trp)
c.1611C>G (p.Cys537Trp)
c.1602C>G (p.Cys534Trp)
c.1629C>G (p.Cys543Trp)
c.1626C>G (p.Cys542Trp)
c.1608C>G (p.Cys536Trp)
c.1551C>G (p.Cys517Trp)
c.51C>G (p.Cys17Trp)
c.1599C>G (p.Cys533Trp)
c.1605C>G (p.Cys535Trp)
c.1521C>G (p.Cys507Trp)
c.1449C>G (p.Cys483Trp)
c.744C>G (p.Cys248Trp)
9g.137762793C>TCA467873921EHMT1c.1620C>T (p.Cys540=)
c.1506C>T (p.Cys502=)
c.1527C>T (p.Cys509=)
c.1660C>T (n.1660C>T)
c.1565C>T
c.1247C>T
c.789C>T (p.Cys263=)
c.*1355C>T (n.*1355C>T)
c.477C>T (p.Cys159=)
c.312C>T (p.Cys104=)
c.1611C>T (p.Cys537=)
c.1602C>T (p.Cys534=)
c.1629C>T (p.Cys543=)
c.1626C>T (p.Cys542=)
c.1608C>T (p.Cys536=)
c.1551C>T (p.Cys517=)
c.51C>T (p.Cys17=)
c.1599C>T (p.Cys533=)
c.1605C>T (p.Cys535=)
c.1521C>T (p.Cys507=)
c.1449C>T (p.Cys483=)
c.744C>T (p.Cys248=)
9g.137762794A=CA1884659601EHMT1c.1621A= (p.Met541=)
c.1507A= (p.Met503=)
c.1528A= (p.Met510=)
c.1661A= (n.1661A=)
c.1566A=
c.1248A=
c.790A= (p.Met264=)
c.*1356A= (n.*1356A=)
c.478A= (p.Met160=)
c.313A= (p.Met105=)
c.1612A= (p.Met538=)
c.1603A= (p.Met535=)
c.1630A= (p.Met544=)
c.1627A= (p.Met543=)
c.1609A= (p.Met537=)
c.1552A= (p.Met518=)
c.52A= (p.Met18=)
c.1600A= (p.Met534=)
c.1606A= (p.Met536=)
c.1522A= (p.Met508=)
c.1450A= (p.Met484=)
c.745A= (p.Met249=)
9g.137762794A>CCA375769649EHMT1c.1621A>C (p.Met541Leu)
c.1507A>C (p.Met503Leu)
c.1528A>C (p.Met510Leu)
c.1661A>C (n.1661A>C)
c.1566A>C
c.1248A>C
c.790A>C (p.Met264Leu)
c.*1356A>C (n.*1356A>C)
c.478A>C (p.Met160Leu)
c.313A>C (p.Met105Leu)
c.1612A>C (p.Met538Leu)
c.1603A>C (p.Met535Leu)
c.1630A>C (p.Met544Leu)
c.1627A>C (p.Met543Leu)
c.1609A>C (p.Met537Leu)
c.1552A>C (p.Met518Leu)
c.52A>C (p.Met18Leu)
c.1600A>C (p.Met534Leu)
c.1606A>C (p.Met536Leu)
c.1522A>C (p.Met508Leu)
c.1450A>C (p.Met484Leu)
c.745A>C (p.Met249Leu)
9g.137762794A>GCA375769653EHMT1c.1621A>G (p.Met541Val)
c.1507A>G (p.Met503Val)
c.1528A>G (p.Met510Val)
c.1661A>G (n.1661A>G)
c.1566A>G
c.1248A>G
c.790A>G (p.Met264Val)
c.*1356A>G (n.*1356A>G)
c.478A>G (p.Met160Val)
c.313A>G (p.Met105Val)
c.1612A>G (p.Met538Val)
c.1603A>G (p.Met535Val)
c.1630A>G (p.Met544Val)
c.1627A>G (p.Met543Val)
c.1609A>G (p.Met537Val)
c.1552A>G (p.Met518Val)
c.52A>G (p.Met18Val)
c.1600A>G (p.Met534Val)
c.1606A>G (p.Met536Val)
c.1522A>G (p.Met508Val)
c.1450A>G (p.Met484Val)
c.745A>G (p.Met249Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137762794A>TCA375769658EHMT1c.1621A>T (p.Met541Leu)
c.1507A>T (p.Met503Leu)
c.1528A>T (p.Met510Leu)
c.1661A>T (n.1661A>T)
c.1566A>T
c.1248A>T
c.790A>T (p.Met264Leu)
c.*1356A>T (n.*1356A>T)
c.478A>T (p.Met160Leu)
c.313A>T (p.Met105Leu)
c.1612A>T (p.Met538Leu)
c.1603A>T (p.Met535Leu)
c.1630A>T (p.Met544Leu)
c.1627A>T (p.Met543Leu)
c.1609A>T (p.Met537Leu)
c.1552A>T (p.Met518Leu)
c.52A>T (p.Met18Leu)
c.1600A>T (p.Met534Leu)
c.1606A>T (p.Met536Leu)
c.1522A>T (p.Met508Leu)
c.1450A>T (p.Met484Leu)
c.745A>T (p.Met249Leu)
9g.137762795T>ACA375769664EHMT1c.1622T>A (p.Met541Lys)
c.1508T>A (p.Met503Lys)
c.1529T>A (p.Met510Lys)
c.1662T>A (n.1662T>A)
c.1567T>A
c.1249T>A
c.791T>A (p.Met264Lys)
c.*1357T>A (n.*1357T>A)
c.479T>A (p.Met160Lys)
c.314T>A (p.Met105Lys)
c.1613T>A (p.Met538Lys)
c.1604T>A (p.Met535Lys)
c.1631T>A (p.Met544Lys)
c.1628T>A (p.Met543Lys)
c.1610T>A (p.Met537Lys)
c.1553T>A (p.Met518Lys)
c.53T>A (p.Met18Lys)
c.1601T>A (p.Met534Lys)
c.1607T>A (p.Met536Lys)
c.1523T>A (p.Met508Lys)
c.1451T>A (p.Met484Lys)
c.746T>A (p.Met249Lys)
9g.137762795T>CCA375769667EHMT1c.1622T>C (p.Met541Thr)
c.1508T>C (p.Met503Thr)
c.1529T>C (p.Met510Thr)
c.1662T>C (n.1662T>C)
c.1567T>C
c.1249T>C
c.791T>C (p.Met264Thr)
c.*1357T>C (n.*1357T>C)
c.479T>C (p.Met160Thr)
c.314T>C (p.Met105Thr)
c.1613T>C (p.Met538Thr)
c.1604T>C (p.Met535Thr)
c.1631T>C (p.Met544Thr)
c.1628T>C (p.Met543Thr)
c.1610T>C (p.Met537Thr)
c.1553T>C (p.Met518Thr)
c.53T>C (p.Met18Thr)
c.1601T>C (p.Met534Thr)
c.1607T>C (p.Met536Thr)
c.1523T>C (p.Met508Thr)
c.1451T>C (p.Met484Thr)
c.746T>C (p.Met249Thr)
9g.137762795T>GCA375769669EHMT1c.1622T>G (p.Met541Arg)
c.1508T>G (p.Met503Arg)
c.1529T>G (p.Met510Arg)
c.1662T>G (n.1662T>G)
c.1567T>G
c.1249T>G
c.791T>G (p.Met264Arg)
c.*1357T>G (n.*1357T>G)
c.479T>G (p.Met160Arg)
c.314T>G (p.Met105Arg)
c.1613T>G (p.Met538Arg)
c.1604T>G (p.Met535Arg)
c.1631T>G (p.Met544Arg)
c.1628T>G (p.Met543Arg)
c.1610T>G (p.Met537Arg)
c.1553T>G (p.Met518Arg)
c.53T>G (p.Met18Arg)
c.1601T>G (p.Met534Arg)
c.1607T>G (p.Met536Arg)
c.1523T>G (p.Met508Arg)
c.1451T>G (p.Met484Arg)
c.746T>G (p.Met249Arg)
9g.137762796G>ACA375769677EHMT1c.1623G>A (p.Met541Ile)
c.1509G>A (p.Met503Ile)
c.1530G>A (p.Met510Ile)
c.1663G>A (n.1663G>A)
c.1568G>A
c.1250G>A
c.792G>A (p.Met264Ile)
c.*1358G>A (n.*1358G>A)
c.480G>A (p.Met160Ile)
c.315G>A (p.Met105Ile)
c.1614G>A (p.Met538Ile)
c.1605G>A (p.Met535Ile)
c.1632G>A (p.Met544Ile)
c.1629G>A (p.Met543Ile)
c.1611G>A (p.Met537Ile)
c.1554G>A (p.Met518Ile)
c.54G>A (p.Met18Ile)
c.1602G>A (p.Met534Ile)
c.1608G>A (p.Met536Ile)
c.1524G>A (p.Met508Ile)
c.1452G>A (p.Met484Ile)
c.747G>A (p.Met249Ile)
9g.137762796G>CCA375769679EHMT1c.1623G>C (p.Met541Ile)
c.1509G>C (p.Met503Ile)
c.1530G>C (p.Met510Ile)
c.1663G>C (n.1663G>C)
c.1568G>C
c.1250G>C
c.792G>C (p.Met264Ile)
c.*1358G>C (n.*1358G>C)
c.480G>C (p.Met160Ile)
c.315G>C (p.Met105Ile)
c.1614G>C (p.Met538Ile)
c.1605G>C (p.Met535Ile)
c.1632G>C (p.Met544Ile)
c.1629G>C (p.Met543Ile)
c.1611G>C (p.Met537Ile)
c.1554G>C (p.Met518Ile)
c.54G>C (p.Met18Ile)
c.1602G>C (p.Met534Ile)
c.1608G>C (p.Met536Ile)
c.1524G>C (p.Met508Ile)
c.1452G>C (p.Met484Ile)
c.747G>C (p.Met249Ile)
9g.137762796G>TCA375769672EHMT1c.1623G>T (p.Met541Ile)
c.1509G>T (p.Met503Ile)
c.1530G>T (p.Met510Ile)
c.1663G>T (n.1663G>T)
c.1568G>T
c.1250G>T
c.792G>T (p.Met264Ile)
c.*1358G>T (n.*1358G>T)
c.480G>T (p.Met160Ile)
c.315G>T (p.Met105Ile)
c.1614G>T (p.Met538Ile)
c.1605G>T (p.Met535Ile)
c.1632G>T (p.Met544Ile)
c.1629G>T (p.Met543Ile)
c.1611G>T (p.Met537Ile)
c.1554G>T (p.Met518Ile)
c.54G>T (p.Met18Ile)
c.1602G>T (p.Met534Ile)
c.1608G>T (p.Met536Ile)
c.1524G>T (p.Met508Ile)
c.1452G>T (p.Met484Ile)
c.747G>T (p.Met249Ile)
9g.137762797G>ACA375769682EHMT1c.1624G>A (p.Ala542Thr)
c.1510G>A (p.Ala504Thr)
c.1531G>A (p.Ala511Thr)
c.1664G>A (n.1664G>A)
c.1569G>A
c.1251G>A
c.793G>A (p.Ala265Thr)
c.*1359G>A (n.*1359G>A)
c.481G>A (p.Ala161Thr)
c.316G>A (p.Ala106Thr)
c.1615G>A (p.Ala539Thr)
c.1606G>A (p.Ala536Thr)
c.1633G>A (p.Ala545Thr)
c.1630G>A (p.Ala544Thr)
c.1612G>A (p.Ala538Thr)
c.1555G>A (p.Ala519Thr)
c.55G>A (p.Ala19Thr)
c.1603G>A (p.Ala535Thr)
c.1609G>A (p.Ala537Thr)
c.1525G>A (p.Ala509Thr)
c.1453G>A (p.Ala485Thr)
c.748G>A (p.Ala250Thr)
9g.137762797G>CCA375769686EHMT1c.1624G>C (p.Ala542Pro)
c.1510G>C (p.Ala504Pro)
c.1531G>C (p.Ala511Pro)
c.1664G>C (n.1664G>C)
c.1569G>C
c.1251G>C
c.793G>C (p.Ala265Pro)
c.*1359G>C (n.*1359G>C)
c.481G>C (p.Ala161Pro)
c.316G>C (p.Ala106Pro)
c.1615G>C (p.Ala539Pro)
c.1606G>C (p.Ala536Pro)
c.1633G>C (p.Ala545Pro)
c.1630G>C (p.Ala544Pro)
c.1612G>C (p.Ala538Pro)
c.1555G>C (p.Ala519Pro)
c.55G>C (p.Ala19Pro)
c.1603G>C (p.Ala535Pro)
c.1609G>C (p.Ala537Pro)
c.1525G>C (p.Ala509Pro)
c.1453G>C (p.Ala485Pro)
c.748G>C (p.Ala250Pro)
9g.137762797G>TCA375769689EHMT1c.1624G>T (p.Ala542Ser)
c.1510G>T (p.Ala504Ser)
c.1531G>T (p.Ala511Ser)
c.1664G>T (n.1664G>T)
c.1569G>T
c.1251G>T
c.793G>T (p.Ala265Ser)
c.*1359G>T (n.*1359G>T)
c.481G>T (p.Ala161Ser)
c.316G>T (p.Ala106Ser)
c.1615G>T (p.Ala539Ser)
c.1606G>T (p.Ala536Ser)
c.1633G>T (p.Ala545Ser)
c.1630G>T (p.Ala544Ser)
c.1612G>T (p.Ala538Ser)
c.1555G>T (p.Ala519Ser)
c.55G>T (p.Ala19Ser)
c.1603G>T (p.Ala535Ser)
c.1609G>T (p.Ala537Ser)
c.1525G>T (p.Ala509Ser)
c.1453G>T (p.Ala485Ser)
c.748G>T (p.Ala250Ser)
9g.137762798C>ACA375769694EHMT1c.1625C>A (p.Ala542Asp)
c.1511C>A (p.Ala504Asp)
c.1532C>A (p.Ala511Asp)
c.1665C>A (n.1665C>A)
c.1570C>A
c.1252C>A
c.794C>A (p.Ala265Asp)
c.*1360C>A (n.*1360C>A)
c.482C>A (p.Ala161Asp)
c.317C>A (p.Ala106Asp)
c.1616C>A (p.Ala539Asp)
c.1607C>A (p.Ala536Asp)
c.1634C>A (p.Ala545Asp)
c.1631C>A (p.Ala544Asp)
c.1613C>A (p.Ala538Asp)
c.1556C>A (p.Ala519Asp)
c.56C>A (p.Ala19Asp)
c.1604C>A (p.Ala535Asp)
c.1610C>A (p.Ala537Asp)
c.1526C>A (p.Ala509Asp)
c.1454C>A (p.Ala485Asp)
c.749C>A (p.Ala250Asp)
9g.137762798C>GCA375769697EHMT1c.1625C>G (p.Ala542Gly)
c.1511C>G (p.Ala504Gly)
c.1532C>G (p.Ala511Gly)
c.1665C>G (n.1665C>G)
c.1570C>G
c.1252C>G
c.794C>G (p.Ala265Gly)
c.*1360C>G (n.*1360C>G)
c.482C>G (p.Ala161Gly)
c.317C>G (p.Ala106Gly)
c.1616C>G (p.Ala539Gly)
c.1607C>G (p.Ala536Gly)
c.1634C>G (p.Ala545Gly)
c.1631C>G (p.Ala544Gly)
c.1613C>G (p.Ala538Gly)
c.1556C>G (p.Ala519Gly)
c.56C>G (p.Ala19Gly)
c.1604C>G (p.Ala535Gly)
c.1610C>G (p.Ala537Gly)
c.1526C>G (p.Ala509Gly)
c.1454C>G (p.Ala485Gly)
c.749C>G (p.Ala250Gly)
 ClinVar
9g.137762798C>TCA375769699EHMT1c.1625C>T (p.Ala542Val)
c.1511C>T (p.Ala504Val)
c.1532C>T (p.Ala511Val)
c.1665C>T (n.1665C>T)
c.1570C>T
c.1252C>T
c.794C>T (p.Ala265Val)
c.*1360C>T (n.*1360C>T)
c.482C>T (p.Ala161Val)
c.317C>T (p.Ala106Val)
c.1616C>T (p.Ala539Val)
c.1607C>T (p.Ala536Val)
c.1634C>T (p.Ala545Val)
c.1631C>T (p.Ala544Val)
c.1613C>T (p.Ala538Val)
c.1556C>T (p.Ala519Val)
c.56C>T (p.Ala19Val)
c.1604C>T (p.Ala535Val)
c.1610C>T (p.Ala537Val)
c.1526C>T (p.Ala509Val)
c.1454C>T (p.Ala485Val)
c.749C>T (p.Ala250Val)
9g.137762799T>ACA467873922EHMT1c.1626T>A (p.Ala542=)
c.1512T>A (p.Ala504=)
c.1533T>A (p.Ala511=)
c.1666T>A (n.1666T>A)
c.1571T>A
c.1253T>A
c.795T>A (p.Ala265=)
c.*1361T>A (n.*1361T>A)
c.483T>A (p.Ala161=)
c.318T>A (p.Ala106=)
c.1617T>A (p.Ala539=)
c.1608T>A (p.Ala536=)
c.1635T>A (p.Ala545=)
c.1632T>A (p.Ala544=)
c.1614T>A (p.Ala538=)
c.1557T>A (p.Ala519=)
c.57T>A (p.Ala19=)
c.1605T>A (p.Ala535=)
c.1611T>A (p.Ala537=)
c.1527T>A (p.Ala509=)
c.1455T>A (p.Ala485=)
c.750T>A (p.Ala250=)
9g.137762799T>CCA467873923EHMT1c.1626T>C (p.Ala542=)
c.1512T>C (p.Ala504=)
c.1533T>C (p.Ala511=)
c.1666T>C (n.1666T>C)
c.1571T>C
c.1253T>C
c.795T>C (p.Ala265=)
c.*1361T>C (n.*1361T>C)
c.483T>C (p.Ala161=)
c.318T>C (p.Ala106=)
c.1617T>C (p.Ala539=)
c.1608T>C (p.Ala536=)
c.1635T>C (p.Ala545=)
c.1632T>C (p.Ala544=)
c.1614T>C (p.Ala538=)
c.1557T>C (p.Ala519=)
c.57T>C (p.Ala19=)
c.1605T>C (p.Ala535=)
c.1611T>C (p.Ala537=)
c.1527T>C (p.Ala509=)
c.1455T>C (p.Ala485=)
c.750T>C (p.Ala250=)
 dbSNP gnomAD v2 gnomAD v4
9g.137762799T>GCA467873924EHMT1c.1626T>G (p.Ala542=)
c.1512T>G (p.Ala504=)
c.1533T>G (p.Ala511=)
c.1666T>G (n.1666T>G)
c.1571T>G
c.1253T>G
c.795T>G (p.Ala265=)
c.*1361T>G (n.*1361T>G)
c.483T>G (p.Ala161=)
c.318T>G (p.Ala106=)
c.1617T>G (p.Ala539=)
c.1608T>G (p.Ala536=)
c.1635T>G (p.Ala545=)
c.1632T>G (p.Ala544=)
c.1614T>G (p.Ala538=)
c.1557T>G (p.Ala519=)
c.57T>G (p.Ala19=)
c.1605T>G (p.Ala535=)
c.1611T>G (p.Ala537=)
c.1527T>G (p.Ala509=)
c.1455T>G (p.Ala485=)
c.750T>G (p.Ala250=)
9g.137762799T=CA1884659602EHMT1c.1626T= (p.Ala542=)
c.1512T= (p.Ala504=)
c.1533T= (p.Ala511=)
c.1666T= (n.1666T=)
c.1571T=
c.1253T=
c.795T= (p.Ala265=)
c.*1361T= (n.*1361T=)
c.483T= (p.Ala161=)
c.318T= (p.Ala106=)
c.1617T= (p.Ala539=)
c.1608T= (p.Ala536=)
c.1635T= (p.Ala545=)
c.1632T= (p.Ala544=)
c.1614T= (p.Ala538=)
c.1557T= (p.Ala519=)
c.57T= (p.Ala19=)
c.1605T= (p.Ala535=)
c.1611T= (p.Ala537=)
c.1527T= (p.Ala509=)
c.1455T= (p.Ala485=)
c.750T= (p.Ala250=)
9g.137762800A>CCA375769700EHMT1c.1627A>C (p.Thr543Pro)
c.1513A>C (p.Thr505Pro)
c.1534A>C (p.Thr512Pro)
c.1667A>C (n.1667A>C)
c.1572A>C
c.1254A>C
c.796A>C (p.Thr266Pro)
c.*1362A>C (n.*1362A>C)
c.484A>C (p.Thr162Pro)
c.319A>C (p.Thr107Pro)
c.1618A>C (p.Thr540Pro)
c.1609A>C (p.Thr537Pro)
c.1636A>C (p.Thr546Pro)
c.1633A>C (p.Thr545Pro)
c.1615A>C (p.Thr539Pro)
c.1558A>C (p.Thr520Pro)
c.58A>C (p.Thr20Pro)
c.1606A>C (p.Thr536Pro)
c.1612A>C (p.Thr538Pro)
c.1528A>C (p.Thr510Pro)
c.1456A>C (p.Thr486Pro)
c.751A>C (p.Thr251Pro)
9g.137762800A>GCA375769701EHMT1c.1627A>G (p.Thr543Ala)
c.1513A>G (p.Thr505Ala)
c.1534A>G (p.Thr512Ala)
c.1667A>G (n.1667A>G)
c.1572A>G
c.1254A>G
c.796A>G (p.Thr266Ala)
c.*1362A>G (n.*1362A>G)
c.484A>G (p.Thr162Ala)
c.319A>G (p.Thr107Ala)
c.1618A>G (p.Thr540Ala)
c.1609A>G (p.Thr537Ala)
c.1636A>G (p.Thr546Ala)
c.1633A>G (p.Thr545Ala)
c.1615A>G (p.Thr539Ala)
c.1558A>G (p.Thr520Ala)
c.58A>G (p.Thr20Ala)
c.1606A>G (p.Thr536Ala)
c.1612A>G (p.Thr538Ala)
c.1528A>G (p.Thr510Ala)
c.1456A>G (p.Thr486Ala)
c.751A>G (p.Thr251Ala)
9g.137762800A>TCA375769702EHMT1c.1627A>T (p.Thr543Ser)
c.1513A>T (p.Thr505Ser)
c.1534A>T (p.Thr512Ser)
c.1667A>T (n.1667A>T)
c.1572A>T
c.1254A>T
c.796A>T (p.Thr266Ser)
c.*1362A>T (n.*1362A>T)
c.484A>T (p.Thr162Ser)
c.319A>T (p.Thr107Ser)
c.1618A>T (p.Thr540Ser)
c.1609A>T (p.Thr537Ser)
c.1636A>T (p.Thr546Ser)
c.1633A>T (p.Thr545Ser)
c.1615A>T (p.Thr539Ser)
c.1558A>T (p.Thr520Ser)
c.58A>T (p.Thr20Ser)
c.1606A>T (p.Thr536Ser)
c.1612A>T (p.Thr538Ser)
c.1528A>T (p.Thr510Ser)
c.1456A>T (p.Thr486Ser)
c.751A>T (p.Thr251Ser)
9g.137762801C>ACA375769703EHMT1c.1628C>A (p.Thr543Lys)
c.1514C>A (p.Thr505Lys)
c.1535C>A (p.Thr512Lys)
c.1668C>A (n.1668C>A)
c.1573C>A
c.1255C>A
c.797C>A (p.Thr266Lys)
c.*1363C>A (n.*1363C>A)
c.485C>A (p.Thr162Lys)
c.320C>A (p.Thr107Lys)
c.1619C>A (p.Thr540Lys)
c.1610C>A (p.Thr537Lys)
c.1637C>A (p.Thr546Lys)
c.1634C>A (p.Thr545Lys)
c.1616C>A (p.Thr539Lys)
c.1559C>A (p.Thr520Lys)
c.59C>A (p.Thr20Lys)
c.1607C>A (p.Thr536Lys)
c.1613C>A (p.Thr538Lys)
c.1529C>A (p.Thr510Lys)
c.1457C>A (p.Thr486Lys)
c.752C>A (p.Thr251Lys)
9g.137762801C>GCA375769705EHMT1c.1628C>G (p.Thr543Arg)
c.1514C>G (p.Thr505Arg)
c.1535C>G (p.Thr512Arg)
c.1668C>G (n.1668C>G)
c.1573C>G
c.1255C>G
c.797C>G (p.Thr266Arg)
c.*1363C>G (n.*1363C>G)
c.485C>G (p.Thr162Arg)
c.320C>G (p.Thr107Arg)
c.1619C>G (p.Thr540Arg)
c.1610C>G (p.Thr537Arg)
c.1637C>G (p.Thr546Arg)
c.1634C>G (p.Thr545Arg)
c.1616C>G (p.Thr539Arg)
c.1559C>G (p.Thr520Arg)
c.59C>G (p.Thr20Arg)
c.1607C>G (p.Thr536Arg)
c.1613C>G (p.Thr538Arg)
c.1529C>G (p.Thr510Arg)
c.1457C>G (p.Thr486Arg)
c.752C>G (p.Thr251Arg)
9g.137762801C>TCA375769707EHMT1c.1628C>T (p.Thr543Ile)
c.1514C>T (p.Thr505Ile)
c.1535C>T (p.Thr512Ile)
c.1668C>T (n.1668C>T)
c.1573C>T
c.1255C>T
c.797C>T (p.Thr266Ile)
c.*1363C>T (n.*1363C>T)
c.485C>T (p.Thr162Ile)
c.320C>T (p.Thr107Ile)
c.1619C>T (p.Thr540Ile)
c.1610C>T (p.Thr537Ile)
c.1637C>T (p.Thr546Ile)
c.1634C>T (p.Thr545Ile)
c.1616C>T (p.Thr539Ile)
c.1559C>T (p.Thr520Ile)
c.59C>T (p.Thr20Ile)
c.1607C>T (p.Thr536Ile)
c.1613C>T (p.Thr538Ile)
c.1529C>T (p.Thr510Ile)
c.1457C>T (p.Thr486Ile)
c.752C>T (p.Thr251Ile)
 gnomAD v4
9g.137762802A=CA1884659603EHMT1c.1629A= (p.Thr543=)
c.1515A= (p.Thr505=)
c.1536A= (p.Thr512=)
c.1669A= (n.1669A=)
c.1574A=
c.1256A=
c.798A= (p.Thr266=)
c.*1364A= (n.*1364A=)
c.486A= (p.Thr162=)
c.321A= (p.Thr107=)
c.1620A= (p.Thr540=)
c.1611A= (p.Thr537=)
c.1638A= (p.Thr546=)
c.1635A= (p.Thr545=)
c.1617A= (p.Thr539=)
c.1560A= (p.Thr520=)
c.60A= (p.Thr20=)
c.1608A= (p.Thr536=)
c.1614A= (p.Thr538=)
c.1530A= (p.Thr510=)
c.1458A= (p.Thr486=)
c.753A= (p.Thr251=)
9g.137762802A>CCA467873925EHMT1c.1629A>C (p.Thr543=)
c.1515A>C (p.Thr505=)
c.1536A>C (p.Thr512=)
c.1669A>C (n.1669A>C)
c.1574A>C
c.1256A>C
c.798A>C (p.Thr266=)
c.*1364A>C (n.*1364A>C)
c.486A>C (p.Thr162=)
c.321A>C (p.Thr107=)
c.1620A>C (p.Thr540=)
c.1611A>C (p.Thr537=)
c.1638A>C (p.Thr546=)
c.1635A>C (p.Thr545=)
c.1617A>C (p.Thr539=)
c.1560A>C (p.Thr520=)
c.60A>C (p.Thr20=)
c.1608A>C (p.Thr536=)
c.1614A>C (p.Thr538=)
c.1530A>C (p.Thr510=)
c.1458A>C (p.Thr486=)
c.753A>C (p.Thr251=)
9g.137762802A>GCA5374674EHMT1c.1629A>G (p.Thr543=)
c.1515A>G (p.Thr505=)
c.1536A>G (p.Thr512=)
c.1669A>G (n.1669A>G)
c.1574A>G
c.1256A>G
c.798A>G (p.Thr266=)
c.*1364A>G (n.*1364A>G)
c.486A>G (p.Thr162=)
c.321A>G (p.Thr107=)
c.1620A>G (p.Thr540=)
c.1611A>G (p.Thr537=)
c.1638A>G (p.Thr546=)
c.1635A>G (p.Thr545=)
c.1617A>G (p.Thr539=)
c.1560A>G (p.Thr520=)
c.60A>G (p.Thr20=)
c.1608A>G (p.Thr536=)
c.1614A>G (p.Thr538=)
c.1530A>G (p.Thr510=)
c.1458A>G (p.Thr486=)
c.753A>G (p.Thr251=)
 dbSNP ExAC gnomAD v2
9g.137762802A>TCA467873926EHMT1c.1629A>T (p.Thr543=)
c.1515A>T (p.Thr505=)
c.1536A>T (p.Thr512=)
c.1669A>T (n.1669A>T)
c.1574A>T
c.1256A>T
c.798A>T (p.Thr266=)
c.*1364A>T (n.*1364A>T)
c.486A>T (p.Thr162=)
c.321A>T (p.Thr107=)
c.1620A>T (p.Thr540=)
c.1611A>T (p.Thr537=)
c.1638A>T (p.Thr546=)
c.1635A>T (p.Thr545=)
c.1617A>T (p.Thr539=)
c.1560A>T (p.Thr520=)
c.60A>T (p.Thr20=)
c.1608A>T (p.Thr536=)
c.1614A>T (p.Thr538=)
c.1530A>T (p.Thr510=)
c.1458A>T (p.Thr486=)
c.753A>T (p.Thr251=)
9g.137762803G>ACA375769729EHMT1c.1630G>A (p.Glu544Lys)
c.1516G>A (p.Glu506Lys)
c.1537G>A (p.Glu513Lys)
c.1670G>A (n.1670G>A)
c.1575G>A
c.1257G>A
c.799G>A (p.Glu267Lys)
c.*1365G>A (n.*1365G>A)
c.487G>A (p.Glu163Lys)
c.322G>A (p.Glu108Lys)
c.1621G>A (p.Glu541Lys)
c.1612G>A (p.Glu538Lys)
c.1639G>A (p.Glu547Lys)
c.1636G>A (p.Glu546Lys)
c.1618G>A (p.Glu540Lys)
c.1561G>A (p.Glu521Lys)
c.61G>A (p.Glu21Lys)
c.1609G>A (p.Glu537Lys)
c.1615G>A (p.Glu539Lys)
c.1531G>A (p.Glu511Lys)
c.1459G>A (p.Glu487Lys)
c.754G>A (p.Glu252Lys)
9g.137762803G>CCA375769712EHMT1c.1630G>C (p.Glu544Gln)
c.1516G>C (p.Glu506Gln)
c.1537G>C (p.Glu513Gln)
c.1670G>C (n.1670G>C)
c.1575G>C
c.1257G>C
c.799G>C (p.Glu267Gln)
c.*1365G>C (n.*1365G>C)
c.487G>C (p.Glu163Gln)
c.322G>C (p.Glu108Gln)
c.1621G>C (p.Glu541Gln)
c.1612G>C (p.Glu538Gln)
c.1639G>C (p.Glu547Gln)
c.1636G>C (p.Glu546Gln)
c.1618G>C (p.Glu540Gln)
c.1561G>C (p.Glu521Gln)
c.61G>C (p.Glu21Gln)
c.1609G>C (p.Glu537Gln)
c.1615G>C (p.Glu539Gln)
c.1531G>C (p.Glu511Gln)
c.1459G>C (p.Glu487Gln)
c.754G>C (p.Glu252Gln)
9g.137762803G>TCA375769716EHMT1c.1630G>T (p.Glu544Ter)
c.1516G>T (p.Glu506Ter)
c.1537G>T (p.Glu513Ter)
c.1670G>T (n.1670G>T)
c.1575G>T
c.1257G>T
c.799G>T (p.Glu267Ter)
c.*1365G>T (n.*1365G>T)
c.487G>T (p.Glu163Ter)
c.322G>T (p.Glu108Ter)
c.1621G>T (p.Glu541Ter)
c.1612G>T (p.Glu538Ter)
c.1639G>T (p.Glu547Ter)
c.1636G>T (p.Glu546Ter)
c.1618G>T (p.Glu540Ter)
c.1561G>T (p.Glu521Ter)
c.61G>T (p.Glu21Ter)
c.1609G>T (p.Glu537Ter)
c.1615G>T (p.Glu539Ter)
c.1531G>T (p.Glu511Ter)
c.1459G>T (p.Glu487Ter)
c.754G>T (p.Glu252Ter)
9g.137762804A>CCA375769732EHMT1c.1631A>C (p.Glu544Ala)
c.1517A>C (p.Glu506Ala)
c.1538A>C (p.Glu513Ala)
c.1671A>C (n.1671A>C)
c.1576A>C
c.1258A>C
c.800A>C (p.Glu267Ala)
c.*1366A>C (n.*1366A>C)
c.488A>C (p.Glu163Ala)
c.323A>C (p.Glu108Ala)
c.1622A>C (p.Glu541Ala)
c.1613A>C (p.Glu538Ala)
c.1640A>C (p.Glu547Ala)
c.1637A>C (p.Glu546Ala)
c.1619A>C (p.Glu540Ala)
c.1562A>C (p.Glu521Ala)
c.62A>C (p.Glu21Ala)
c.1610A>C (p.Glu537Ala)
c.1616A>C (p.Glu539Ala)
c.1532A>C (p.Glu511Ala)
c.1460A>C (p.Glu487Ala)
c.755A>C (p.Glu252Ala)
9g.137762804A>GCA375769739EHMT1c.1631A>G (p.Glu544Gly)
c.1517A>G (p.Glu506Gly)
c.1538A>G (p.Glu513Gly)
c.1671A>G (n.1671A>G)
c.1576A>G
c.1258A>G
c.800A>G (p.Glu267Gly)
c.*1366A>G (n.*1366A>G)
c.488A>G (p.Glu163Gly)
c.323A>G (p.Glu108Gly)
c.1622A>G (p.Glu541Gly)
c.1613A>G (p.Glu538Gly)
c.1640A>G (p.Glu547Gly)
c.1637A>G (p.Glu546Gly)
c.1619A>G (p.Glu540Gly)
c.1562A>G (p.Glu521Gly)
c.62A>G (p.Glu21Gly)
c.1610A>G (p.Glu537Gly)
c.1616A>G (p.Glu539Gly)
c.1532A>G (p.Glu511Gly)
c.1460A>G (p.Glu487Gly)
c.755A>G (p.Glu252Gly)
9g.137762804A>TCA375769743EHMT1c.1631A>T (p.Glu544Val)
c.1517A>T (p.Glu506Val)
c.1538A>T (p.Glu513Val)
c.1671A>T (n.1671A>T)
c.1576A>T
c.1258A>T
c.800A>T (p.Glu267Val)
c.*1366A>T (n.*1366A>T)
c.488A>T (p.Glu163Val)
c.323A>T (p.Glu108Val)
c.1622A>T (p.Glu541Val)
c.1613A>T (p.Glu538Val)
c.1640A>T (p.Glu547Val)
c.1637A>T (p.Glu546Val)
c.1619A>T (p.Glu540Val)
c.1562A>T (p.Glu521Val)
c.62A>T (p.Glu21Val)
c.1610A>T (p.Glu537Val)
c.1616A>T (p.Glu539Val)
c.1532A>T (p.Glu511Val)
c.1460A>T (p.Glu487Val)
c.755A>T (p.Glu252Val)
9g.137762805G>ACA467873927EHMT1c.1632G>A (p.Glu544=)
c.1518G>A (p.Glu506=)
c.1539G>A (p.Glu513=)
c.1672G>A (n.1672G>A)
c.1577G>A
c.1259G>A
c.801G>A (p.Glu267=)
c.*1367G>A (n.*1367G>A)
c.489G>A (p.Glu163=)
c.324G>A (p.Glu108=)
c.1623G>A (p.Glu541=)
c.1614G>A (p.Glu538=)
c.1641G>A (p.Glu547=)
c.1638G>A (p.Glu546=)
c.1620G>A (p.Glu540=)
c.1563G>A (p.Glu521=)
c.63G>A (p.Glu21=)
c.1611G>A (p.Glu537=)
c.1617G>A (p.Glu539=)
c.1533G>A (p.Glu511=)
c.1461G>A (p.Glu487=)
c.756G>A (p.Glu252=)
9g.137762805G>CCA375769745EHMT1c.1632G>C (p.Glu544Asp)
c.1518G>C (p.Glu506Asp)
c.1539G>C (p.Glu513Asp)
c.1672G>C (n.1672G>C)
c.1577G>C
c.1259G>C
c.801G>C (p.Glu267Asp)
c.*1367G>C (n.*1367G>C)
c.489G>C (p.Glu163Asp)
c.324G>C (p.Glu108Asp)
c.1623G>C (p.Glu541Asp)
c.1614G>C (p.Glu538Asp)
c.1641G>C (p.Glu547Asp)
c.1638G>C (p.Glu546Asp)
c.1620G>C (p.Glu540Asp)
c.1563G>C (p.Glu521Asp)
c.63G>C (p.Glu21Asp)
c.1611G>C (p.Glu537Asp)
c.1617G>C (p.Glu539Asp)
c.1533G>C (p.Glu511Asp)
c.1461G>C (p.Glu487Asp)
c.756G>C (p.Glu252Asp)
9g.137762805G>TCA375769750EHMT1c.1632G>T (p.Glu544Asp)
c.1518G>T (p.Glu506Asp)
c.1539G>T (p.Glu513Asp)
c.1672G>T (n.1672G>T)
c.1577G>T
c.1259G>T
c.801G>T (p.Glu267Asp)
c.*1367G>T (n.*1367G>T)
c.489G>T (p.Glu163Asp)
c.324G>T (p.Glu108Asp)
c.1623G>T (p.Glu541Asp)
c.1614G>T (p.Glu538Asp)
c.1641G>T (p.Glu547Asp)
c.1638G>T (p.Glu546Asp)
c.1620G>T (p.Glu540Asp)
c.1563G>T (p.Glu521Asp)
c.63G>T (p.Glu21Asp)
c.1611G>T (p.Glu537Asp)
c.1617G>T (p.Glu539Asp)
c.1533G>T (p.Glu511Asp)
c.1461G>T (p.Glu487Asp)
c.756G>T (p.Glu252Asp)
9g.137762806A=CA1884659604EHMT1c.1633A= (p.Ser545=)
c.1519A= (p.Ser507=)
c.1540A= (p.Ser514=)
c.1673A= (n.1673A=)
c.1578A=
c.1260A=
c.802A= (p.Ser268=)
c.*1368A= (n.*1368A=)
c.490A= (p.Ser164=)
c.325A= (p.Ser109=)
c.1624A= (p.Ser542=)
c.1615A= (p.Ser539=)
c.1642A= (p.Ser548=)
c.1639A= (p.Ser547=)
c.1621A= (p.Ser541=)
c.1564A= (p.Ser522=)
c.64A= (p.Ser22=)
c.1612A= (p.Ser538=)
c.1618A= (p.Ser540=)
c.1534A= (p.Ser512=)
c.1462A= (p.Ser488=)
c.757A= (p.Ser253=)
9g.137762806A>CCA375769756EHMT1c.1633A>C (p.Ser545Arg)
c.1519A>C (p.Ser507Arg)
c.1540A>C (p.Ser514Arg)
c.1673A>C (n.1673A>C)
c.1578A>C
c.1260A>C
c.802A>C (p.Ser268Arg)
c.*1368A>C (n.*1368A>C)
c.490A>C (p.Ser164Arg)
c.325A>C (p.Ser109Arg)
c.1624A>C (p.Ser542Arg)
c.1615A>C (p.Ser539Arg)
c.1642A>C (p.Ser548Arg)
c.1639A>C (p.Ser547Arg)
c.1621A>C (p.Ser541Arg)
c.1564A>C (p.Ser522Arg)
c.64A>C (p.Ser22Arg)
c.1612A>C (p.Ser538Arg)
c.1618A>C (p.Ser540Arg)
c.1534A>C (p.Ser512Arg)
c.1462A>C (p.Ser488Arg)
c.757A>C (p.Ser253Arg)
9g.137762806A>GCA375769761EHMT1c.1633A>G (p.Ser545Gly)
c.1519A>G (p.Ser507Gly)
c.1540A>G (p.Ser514Gly)
c.1673A>G (n.1673A>G)
c.1578A>G
c.1260A>G
c.802A>G (p.Ser268Gly)
c.*1368A>G (n.*1368A>G)
c.490A>G (p.Ser164Gly)
c.325A>G (p.Ser109Gly)
c.1624A>G (p.Ser542Gly)
c.1615A>G (p.Ser539Gly)
c.1642A>G (p.Ser548Gly)
c.1639A>G (p.Ser547Gly)
c.1621A>G (p.Ser541Gly)
c.1564A>G (p.Ser522Gly)
c.64A>G (p.Ser22Gly)
c.1612A>G (p.Ser538Gly)
c.1618A>G (p.Ser540Gly)
c.1534A>G (p.Ser512Gly)
c.1462A>G (p.Ser488Gly)
c.757A>G (p.Ser253Gly)
 dbSNP gnomAD v4
9g.137762806A>TCA375769766EHMT1c.1633A>T (p.Ser545Cys)
c.1519A>T (p.Ser507Cys)
c.1540A>T (p.Ser514Cys)
c.1673A>T (n.1673A>T)
c.1578A>T
c.1260A>T
c.802A>T (p.Ser268Cys)
c.*1368A>T (n.*1368A>T)
c.490A>T (p.Ser164Cys)
c.325A>T (p.Ser109Cys)
c.1624A>T (p.Ser542Cys)
c.1615A>T (p.Ser539Cys)
c.1642A>T (p.Ser548Cys)
c.1639A>T (p.Ser547Cys)
c.1621A>T (p.Ser541Cys)
c.1564A>T (p.Ser522Cys)
c.64A>T (p.Ser22Cys)
c.1612A>T (p.Ser538Cys)
c.1618A>T (p.Ser540Cys)
c.1534A>T (p.Ser512Cys)
c.1462A>T (p.Ser488Cys)
c.757A>T (p.Ser253Cys)
9g.137762807G>ACA375769769EHMT1c.1634G>A (p.Ser545Asn)
c.1520G>A (p.Ser507Asn)
c.1541G>A (p.Ser514Asn)
c.1674G>A (n.1674G>A)
c.1579G>A
c.1261G>A
c.803G>A (p.Ser268Asn)
c.*1369G>A (n.*1369G>A)
c.491G>A (p.Ser164Asn)
c.326G>A (p.Ser109Asn)
c.1625G>A (p.Ser542Asn)
c.1616G>A (p.Ser539Asn)
c.1643G>A (p.Ser548Asn)
c.1640G>A (p.Ser547Asn)
c.1622G>A (p.Ser541Asn)
c.1565G>A (p.Ser522Asn)
c.65G>A (p.Ser22Asn)
c.1613G>A (p.Ser538Asn)
c.1619G>A (p.Ser540Asn)
c.1535G>A (p.Ser512Asn)
c.1463G>A (p.Ser488Asn)
c.758G>A (p.Ser253Asn)
 ClinVar gnomAD v4
9g.137762807G>CCA375769772EHMT1c.1634G>C (p.Ser545Thr)
c.1520G>C (p.Ser507Thr)
c.1541G>C (p.Ser514Thr)
c.1674G>C (n.1674G>C)
c.1579G>C
c.1261G>C
c.803G>C (p.Ser268Thr)
c.*1369G>C (n.*1369G>C)
c.491G>C (p.Ser164Thr)
c.326G>C (p.Ser109Thr)
c.1625G>C (p.Ser542Thr)
c.1616G>C (p.Ser539Thr)
c.1643G>C (p.Ser548Thr)
c.1640G>C (p.Ser547Thr)
c.1622G>C (p.Ser541Thr)
c.1565G>C (p.Ser522Thr)
c.65G>C (p.Ser22Thr)
c.1613G>C (p.Ser538Thr)
c.1619G>C (p.Ser540Thr)
c.1535G>C (p.Ser512Thr)
c.1463G>C (p.Ser488Thr)
c.758G>C (p.Ser253Thr)
9g.137762807G>TCA375769775EHMT1c.1634G>T (p.Ser545Ile)
c.1520G>T (p.Ser507Ile)
c.1541G>T (p.Ser514Ile)
c.1674G>T (n.1674G>T)
c.1579G>T
c.1261G>T
c.803G>T (p.Ser268Ile)
c.*1369G>T (n.*1369G>T)
c.491G>T (p.Ser164Ile)
c.326G>T (p.Ser109Ile)
c.1625G>T (p.Ser542Ile)
c.1616G>T (p.Ser539Ile)
c.1643G>T (p.Ser548Ile)
c.1640G>T (p.Ser547Ile)
c.1622G>T (p.Ser541Ile)
c.1565G>T (p.Ser522Ile)
c.65G>T (p.Ser22Ile)
c.1613G>T (p.Ser538Ile)
c.1619G>T (p.Ser540Ile)
c.1535G>T (p.Ser512Ile)
c.1463G>T (p.Ser488Ile)
c.758G>T (p.Ser253Ile)
9g.137762808C>ACA375769788EHMT1c.1635C>A (p.Ser545Arg)
c.1521C>A (p.Ser507Arg)
c.1542C>A (p.Ser514Arg)
c.1675C>A (n.1675C>A)
c.1580C>A
c.1262C>A
c.804C>A (p.Ser268Arg)
c.*1370C>A (n.*1370C>A)
c.492C>A (p.Ser164Arg)
c.327C>A (p.Ser109Arg)
c.1626C>A (p.Ser542Arg)
c.1617C>A (p.Ser539Arg)
c.1644C>A (p.Ser548Arg)
c.1641C>A (p.Ser547Arg)
c.1623C>A (p.Ser541Arg)
c.1566C>A (p.Ser522Arg)
c.66C>A (p.Ser22Arg)
c.1614C>A (p.Ser538Arg)
c.1620C>A (p.Ser540Arg)
c.1536C>A (p.Ser512Arg)
c.1464C>A (p.Ser488Arg)
c.759C>A (p.Ser253Arg)
9g.137762808C=CA1884659605EHMT1c.1635C= (p.Ser545=)
c.1521C= (p.Ser507=)
c.1542C= (p.Ser514=)
c.1675C= (n.1675C=)
c.1580C=
c.1262C=
c.804C= (p.Ser268=)
c.*1370C= (n.*1370C=)
c.492C= (p.Ser164=)
c.327C= (p.Ser109=)
c.1626C= (p.Ser542=)
c.1617C= (p.Ser539=)
c.1644C= (p.Ser548=)
c.1641C= (p.Ser547=)
c.1623C= (p.Ser541=)
c.1566C= (p.Ser522=)
c.66C= (p.Ser22=)
c.1614C= (p.Ser538=)
c.1620C= (p.Ser540=)
c.1536C= (p.Ser512=)
c.1464C= (p.Ser488=)
c.759C= (p.Ser253=)
9g.137762808C>GCA375769795EHMT1c.1635C>G (p.Ser545Arg)
c.1521C>G (p.Ser507Arg)
c.1542C>G (p.Ser514Arg)
c.1675C>G (n.1675C>G)
c.1580C>G
c.1262C>G
c.804C>G (p.Ser268Arg)
c.*1370C>G (n.*1370C>G)
c.492C>G (p.Ser164Arg)
c.327C>G (p.Ser109Arg)
c.1626C>G (p.Ser542Arg)
c.1617C>G (p.Ser539Arg)
c.1644C>G (p.Ser548Arg)
c.1641C>G (p.Ser547Arg)
c.1623C>G (p.Ser541Arg)
c.1566C>G (p.Ser522Arg)
c.66C>G (p.Ser22Arg)
c.1614C>G (p.Ser538Arg)
c.1620C>G (p.Ser540Arg)
c.1536C>G (p.Ser512Arg)
c.1464C>G (p.Ser488Arg)
c.759C>G (p.Ser253Arg)
9g.137762808C>TCA5374675EHMT1c.1635C>T (p.Ser545=)
c.1521C>T (p.Ser507=)
c.1542C>T (p.Ser514=)
c.1675C>T (n.1675C>T)
c.1580C>T
c.1262C>T
c.804C>T (p.Ser268=)
c.*1370C>T (n.*1370C>T)
c.492C>T (p.Ser164=)
c.327C>T (p.Ser109=)
c.1626C>T (p.Ser542=)
c.1617C>T (p.Ser539=)
c.1644C>T (p.Ser548=)
c.1641C>T (p.Ser547=)
c.1623C>T (p.Ser541=)
c.1566C>T (p.Ser522=)
c.66C>T (p.Ser22=)
c.1614C>T (p.Ser538=)
c.1620C>T (p.Ser540=)
c.1536C>T (p.Ser512=)
c.1464C>T (p.Ser488=)
c.759C>T (p.Ser253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137762809G>ACA5374676EHMT1c.1636G>A (p.Val546Met)
c.1522G>A (p.Val508Met)
c.1543G>A (p.Val515Met)
c.1676G>A (n.1676G>A)
c.1581G>A
c.1263G>A
c.805G>A (p.Val269Met)
c.*1371G>A (n.*1371G>A)
c.493G>A (p.Val165Met)
c.328G>A (p.Val110Met)
c.1627G>A (p.Val543Met)
c.1618G>A (p.Val540Met)
c.1645G>A (p.Val549Met)
c.1642G>A (p.Val548Met)
c.1624G>A (p.Val542Met)
c.1567G>A (p.Val523Met)
c.67G>A (p.Val23Met)
c.1615G>A (p.Val539Met)
c.1621G>A (p.Val541Met)
c.1537G>A (p.Val513Met)
c.1465G>A (p.Val489Met)
c.760G>A (p.Val254Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762809G>CCA375769799EHMT1c.1636G>C (p.Val546Leu)
c.1522G>C (p.Val508Leu)
c.1543G>C (p.Val515Leu)
c.1676G>C (n.1676G>C)
c.1581G>C
c.1263G>C
c.805G>C (p.Val269Leu)
c.*1371G>C (n.*1371G>C)
c.493G>C (p.Val165Leu)
c.328G>C (p.Val110Leu)
c.1627G>C (p.Val543Leu)
c.1618G>C (p.Val540Leu)
c.1645G>C (p.Val549Leu)
c.1642G>C (p.Val548Leu)
c.1624G>C (p.Val542Leu)
c.1567G>C (p.Val523Leu)
c.67G>C (p.Val23Leu)
c.1615G>C (p.Val539Leu)
c.1621G>C (p.Val541Leu)
c.1537G>C (p.Val513Leu)
c.1465G>C (p.Val489Leu)
c.760G>C (p.Val254Leu)
9g.137762809G=CA1884659606EHMT1c.1636G= (p.Val546=)
c.1522G= (p.Val508=)
c.1543G= (p.Val515=)
c.1676G= (n.1676G=)
c.1581G=
c.1263G=
c.805G= (p.Val269=)
c.*1371G= (n.*1371G=)
c.493G= (p.Val165=)
c.328G= (p.Val110=)
c.1627G= (p.Val543=)
c.1618G= (p.Val540=)
c.1645G= (p.Val549=)
c.1642G= (p.Val548=)
c.1624G= (p.Val542=)
c.1567G= (p.Val523=)
c.67G= (p.Val23=)
c.1615G= (p.Val539=)
c.1621G= (p.Val541=)
c.1537G= (p.Val513=)
c.1465G= (p.Val489=)
c.760G= (p.Val254=)
9g.137762809G>TCA375769798EHMT1c.1636G>T (p.Val546Leu)
c.1522G>T (p.Val508Leu)
c.1543G>T (p.Val515Leu)
c.1676G>T (n.1676G>T)
c.1581G>T
c.1263G>T
c.805G>T (p.Val269Leu)
c.*1371G>T (n.*1371G>T)
c.493G>T (p.Val165Leu)
c.328G>T (p.Val110Leu)
c.1627G>T (p.Val543Leu)
c.1618G>T (p.Val540Leu)
c.1645G>T (p.Val549Leu)
c.1642G>T (p.Val548Leu)
c.1624G>T (p.Val542Leu)
c.1567G>T (p.Val523Leu)
c.67G>T (p.Val23Leu)
c.1615G>T (p.Val539Leu)
c.1621G>T (p.Val541Leu)
c.1537G>T (p.Val513Leu)
c.1465G>T (p.Val489Leu)
c.760G>T (p.Val254Leu)
9g.137762810T>ACA375769801EHMT1c.1637T>A (p.Val546Glu)
c.1523T>A (p.Val508Glu)
c.1544T>A (p.Val515Glu)
c.1677T>A (n.1677T>A)
c.1582T>A
c.1264T>A
c.806T>A (p.Val269Glu)
c.*1372T>A (n.*1372T>A)
c.494T>A (p.Val165Glu)
c.329T>A (p.Val110Glu)
c.1628T>A (p.Val543Glu)
c.1619T>A (p.Val540Glu)
c.1646T>A (p.Val549Glu)
c.1643T>A (p.Val548Glu)
c.1625T>A (p.Val542Glu)
c.1568T>A (p.Val523Glu)
c.68T>A (p.Val23Glu)
c.1616T>A (p.Val539Glu)
c.1622T>A (p.Val541Glu)
c.1538T>A (p.Val513Glu)
c.1466T>A (p.Val489Glu)
c.761T>A (p.Val254Glu)
9g.137762810T>CCA375769810EHMT1c.1637T>C (p.Val546Ala)
c.1523T>C (p.Val508Ala)
c.1544T>C (p.Val515Ala)
c.1677T>C (n.1677T>C)
c.1582T>C
c.1264T>C
c.806T>C (p.Val269Ala)
c.*1372T>C (n.*1372T>C)
c.494T>C (p.Val165Ala)
c.329T>C (p.Val110Ala)
c.1628T>C (p.Val543Ala)
c.1619T>C (p.Val540Ala)
c.1646T>C (p.Val549Ala)
c.1643T>C (p.Val548Ala)
c.1625T>C (p.Val542Ala)
c.1568T>C (p.Val523Ala)
c.68T>C (p.Val23Ala)
c.1616T>C (p.Val539Ala)
c.1622T>C (p.Val541Ala)
c.1538T>C (p.Val513Ala)
c.1466T>C (p.Val489Ala)
c.761T>C (p.Val254Ala)
9g.137762810T>GCA375769811EHMT1c.1637T>G (p.Val546Gly)
c.1523T>G (p.Val508Gly)
c.1544T>G (p.Val515Gly)
c.1677T>G (n.1677T>G)
c.1582T>G
c.1264T>G
c.806T>G (p.Val269Gly)
c.*1372T>G (n.*1372T>G)
c.494T>G (p.Val165Gly)
c.329T>G (p.Val110Gly)
c.1628T>G (p.Val543Gly)
c.1619T>G (p.Val540Gly)
c.1646T>G (p.Val549Gly)
c.1643T>G (p.Val548Gly)
c.1625T>G (p.Val542Gly)
c.1568T>G (p.Val523Gly)
c.68T>G (p.Val23Gly)
c.1616T>G (p.Val539Gly)
c.1622T>G (p.Val541Gly)
c.1538T>G (p.Val513Gly)
c.1466T>G (p.Val489Gly)
c.761T>G (p.Val254Gly)
9g.137762811G>ACA467873928EHMT1c.1638G>A (p.Val546=)
c.1524G>A (p.Val508=)
c.1545G>A (p.Val515=)
c.1678G>A (n.1678G>A)
c.1583G>A
c.1265G>A
c.807G>A (p.Val269=)
c.*1373G>A (n.*1373G>A)
c.495G>A (p.Val165=)
c.330G>A (p.Val110=)
c.1629G>A (p.Val543=)
c.1620G>A (p.Val540=)
c.1647G>A (p.Val549=)
c.1644G>A (p.Val548=)
c.1626G>A (p.Val542=)
c.1569G>A (p.Val523=)
c.69G>A (p.Val23=)
c.1617G>A (p.Val539=)
c.1623G>A (p.Val541=)
c.1539G>A (p.Val513=)
c.1467G>A (p.Val489=)
c.762G>A (p.Val254=)
9g.137762811G>CCA467873930EHMT1c.1638G>C (p.Val546=)
c.1524G>C (p.Val508=)
c.1545G>C (p.Val515=)
c.1678G>C (n.1678G>C)
c.1583G>C
c.1265G>C
c.807G>C (p.Val269=)
c.*1373G>C (n.*1373G>C)
c.495G>C (p.Val165=)
c.330G>C (p.Val110=)
c.1629G>C (p.Val543=)
c.1620G>C (p.Val540=)
c.1647G>C (p.Val549=)
c.1644G>C (p.Val548=)
c.1626G>C (p.Val542=)
c.1569G>C (p.Val523=)
c.69G>C (p.Val23=)
c.1617G>C (p.Val539=)
c.1623G>C (p.Val541=)
c.1539G>C (p.Val513=)
c.1467G>C (p.Val489=)
c.762G>C (p.Val254=)
9g.137762811G>TCA467873929EHMT1c.1638G>T (p.Val546=)
c.1524G>T (p.Val508=)
c.1545G>T (p.Val515=)
c.1678G>T (n.1678G>T)
c.1583G>T
c.1265G>T
c.807G>T (p.Val269=)
c.*1373G>T (n.*1373G>T)
c.495G>T (p.Val165=)
c.330G>T (p.Val110=)
c.1629G>T (p.Val543=)
c.1620G>T (p.Val540=)
c.1647G>T (p.Val549=)
c.1644G>T (p.Val548=)
c.1626G>T (p.Val542=)
c.1569G>T (p.Val523=)
c.69G>T (p.Val23=)
c.1617G>T (p.Val539=)
c.1623G>T (p.Val541=)
c.1539G>T (p.Val513=)
c.1467G>T (p.Val489=)
c.762G>T (p.Val254=)
9g.137762812G>ACA375769814EHMT1c.1639G>A (p.Asp547Asn)
c.1525G>A (p.Asp509Asn)
c.1546G>A (p.Asp516Asn)
c.1679G>A (n.1679G>A)
c.1584G>A
c.1266G>A
c.808G>A (p.Asp270Asn)
c.*1374G>A (n.*1374G>A)
c.496G>A (p.Asp166Asn)
c.331G>A (p.Asp111Asn)
c.1630G>A (p.Asp544Asn)
c.1621G>A (p.Asp541Asn)
c.1648G>A (p.Asp550Asn)
c.1645G>A (p.Asp549Asn)
c.1627G>A (p.Asp543Asn)
c.1570G>A (p.Asp524Asn)
c.70G>A (p.Asp24Asn)
c.1618G>A (p.Asp540Asn)
c.1624G>A (p.Asp542Asn)
c.1540G>A (p.Asp514Asn)
c.1468G>A (p.Asp490Asn)
c.763G>A (p.Asp255Asn)
 dbSNP
9g.137762812G>CCA375769815EHMT1c.1639G>C (p.Asp547His)
c.1525G>C (p.Asp509His)
c.1546G>C (p.Asp516His)
c.1679G>C (n.1679G>C)
c.1584G>C
c.1266G>C
c.808G>C (p.Asp270His)
c.*1374G>C (n.*1374G>C)
c.496G>C (p.Asp166His)
c.331G>C (p.Asp111His)
c.1630G>C (p.Asp544His)
c.1621G>C (p.Asp541His)
c.1648G>C (p.Asp550His)
c.1645G>C (p.Asp549His)
c.1627G>C (p.Asp543His)
c.1570G>C (p.Asp524His)
c.70G>C (p.Asp24His)
c.1618G>C (p.Asp540His)
c.1624G>C (p.Asp542His)
c.1540G>C (p.Asp514His)
c.1468G>C (p.Asp490His)
c.763G>C (p.Asp255His)
 dbSNP gnomAD v3 gnomAD v4
9g.137762812G=CA1884659607EHMT1c.1639G= (p.Asp547=)
c.1525G= (p.Asp509=)
c.1546G= (p.Asp516=)
c.1679G= (n.1679G=)
c.1584G=
c.1266G=
c.808G= (p.Asp270=)
c.*1374G= (n.*1374G=)
c.496G= (p.Asp166=)
c.331G= (p.Asp111=)
c.1630G= (p.Asp544=)
c.1621G= (p.Asp541=)
c.1648G= (p.Asp550=)
c.1645G= (p.Asp549=)
c.1627G= (p.Asp543=)
c.1570G= (p.Asp524=)
c.70G= (p.Asp24=)
c.1618G= (p.Asp540=)
c.1624G= (p.Asp542=)
c.1540G= (p.Asp514=)
c.1468G= (p.Asp490=)
c.763G= (p.Asp255=)
9g.137762812G>TCA375769816EHMT1c.1639G>T (p.Asp547Tyr)
c.1525G>T (p.Asp509Tyr)
c.1546G>T (p.Asp516Tyr)
c.1679G>T (n.1679G>T)
c.1584G>T
c.1266G>T
c.808G>T (p.Asp270Tyr)
c.*1374G>T (n.*1374G>T)
c.496G>T (p.Asp166Tyr)
c.331G>T (p.Asp111Tyr)
c.1630G>T (p.Asp544Tyr)
c.1621G>T (p.Asp541Tyr)
c.1648G>T (p.Asp550Tyr)
c.1645G>T (p.Asp549Tyr)
c.1627G>T (p.Asp543Tyr)
c.1570G>T (p.Asp524Tyr)
c.70G>T (p.Asp24Tyr)
c.1618G>T (p.Asp540Tyr)
c.1624G>T (p.Asp542Tyr)
c.1540G>T (p.Asp514Tyr)
c.1468G>T (p.Asp490Tyr)
c.763G>T (p.Asp255Tyr)
9g.137762813A>CCA375769817EHMT1c.1640A>C (p.Asp547Ala)
c.1526A>C (p.Asp509Ala)
c.1547A>C (p.Asp516Ala)
c.1680A>C (n.1680A>C)
c.1585A>C
c.1267A>C
c.809A>C (p.Asp270Ala)
c.*1375A>C (n.*1375A>C)
c.497A>C (p.Asp166Ala)
c.332A>C (p.Asp111Ala)
c.1631A>C (p.Asp544Ala)
c.1622A>C (p.Asp541Ala)
c.1649A>C (p.Asp550Ala)
c.1646A>C (p.Asp549Ala)
c.1628A>C (p.Asp543Ala)
c.1571A>C (p.Asp524Ala)
c.71A>C (p.Asp24Ala)
c.1619A>C (p.Asp540Ala)
c.1625A>C (p.Asp542Ala)
c.1541A>C (p.Asp514Ala)
c.1469A>C (p.Asp490Ala)
c.764A>C (p.Asp255Ala)
9g.137762813A>GCA375769818EHMT1c.1640A>G (p.Asp547Gly)
c.1526A>G (p.Asp509Gly)
c.1547A>G (p.Asp516Gly)
c.1680A>G (n.1680A>G)
c.1585A>G
c.1267A>G
c.809A>G (p.Asp270Gly)
c.*1375A>G (n.*1375A>G)
c.497A>G (p.Asp166Gly)
c.332A>G (p.Asp111Gly)
c.1631A>G (p.Asp544Gly)
c.1622A>G (p.Asp541Gly)
c.1649A>G (p.Asp550Gly)
c.1646A>G (p.Asp549Gly)
c.1628A>G (p.Asp543Gly)
c.1571A>G (p.Asp524Gly)
c.71A>G (p.Asp24Gly)
c.1619A>G (p.Asp540Gly)
c.1625A>G (p.Asp542Gly)
c.1541A>G (p.Asp514Gly)
c.1469A>G (p.Asp490Gly)
c.764A>G (p.Asp255Gly)
9g.137762813A>TCA375769821EHMT1c.1640A>T (p.Asp547Val)
c.1526A>T (p.Asp509Val)
c.1547A>T (p.Asp516Val)
c.1680A>T (n.1680A>T)
c.1585A>T
c.1267A>T
c.809A>T (p.Asp270Val)
c.*1375A>T (n.*1375A>T)
c.497A>T (p.Asp166Val)
c.332A>T (p.Asp111Val)
c.1631A>T (p.Asp544Val)
c.1622A>T (p.Asp541Val)
c.1649A>T (p.Asp550Val)
c.1646A>T (p.Asp549Val)
c.1628A>T (p.Asp543Val)
c.1571A>T (p.Asp524Val)
c.71A>T (p.Asp24Val)
c.1619A>T (p.Asp540Val)
c.1625A>T (p.Asp542Val)
c.1541A>T (p.Asp514Val)
c.1469A>T (p.Asp490Val)
c.764A>T (p.Asp255Val)
9g.137762814C>ACA375769823EHMT1c.1641C>A (p.Asp547Glu)
c.1527C>A (p.Asp509Glu)
c.1548C>A (p.Asp516Glu)
c.1681C>A (n.1681C>A)
c.1586C>A
c.1268C>A
c.810C>A (p.Asp270Glu)
c.*1376C>A (n.*1376C>A)
c.498C>A (p.Asp166Glu)
c.333C>A (p.Asp111Glu)
c.1632C>A (p.Asp544Glu)
c.1623C>A (p.Asp541Glu)
c.1650C>A (p.Asp550Glu)
c.1647C>A (p.Asp549Glu)
c.1629C>A (p.Asp543Glu)
c.1572C>A (p.Asp524Glu)
c.72C>A (p.Asp24Glu)
c.1620C>A (p.Asp540Glu)
c.1626C>A (p.Asp542Glu)
c.1542C>A (p.Asp514Glu)
c.1470C>A (p.Asp490Glu)
c.765C>A (p.Asp255Glu)
 dbSNP
9g.137762814C=CA1884659608EHMT1c.1641C= (p.Asp547=)
c.1527C= (p.Asp509=)
c.1548C= (p.Asp516=)
c.1681C= (n.1681C=)
c.1586C=
c.1268C=
c.810C= (p.Asp270=)
c.*1376C= (n.*1376C=)
c.498C= (p.Asp166=)
c.333C= (p.Asp111=)
c.1632C= (p.Asp544=)
c.1623C= (p.Asp541=)
c.1650C= (p.Asp550=)
c.1647C= (p.Asp549=)
c.1629C= (p.Asp543=)
c.1572C= (p.Asp524=)
c.72C= (p.Asp24=)
c.1620C= (p.Asp540=)
c.1626C= (p.Asp542=)
c.1542C= (p.Asp514=)
c.1470C= (p.Asp490=)
c.765C= (p.Asp255=)
9g.137762814C>GCA375769824EHMT1c.1641C>G (p.Asp547Glu)
c.1527C>G (p.Asp509Glu)
c.1548C>G (p.Asp516Glu)
c.1681C>G (n.1681C>G)
c.1586C>G
c.1268C>G
c.810C>G (p.Asp270Glu)
c.*1376C>G (n.*1376C>G)
c.498C>G (p.Asp166Glu)
c.333C>G (p.Asp111Glu)
c.1632C>G (p.Asp544Glu)
c.1623C>G (p.Asp541Glu)
c.1650C>G (p.Asp550Glu)
c.1647C>G (p.Asp549Glu)
c.1629C>G (p.Asp543Glu)
c.1572C>G (p.Asp524Glu)
c.72C>G (p.Asp24Glu)
c.1620C>G (p.Asp540Glu)
c.1626C>G (p.Asp542Glu)
c.1542C>G (p.Asp514Glu)
c.1470C>G (p.Asp490Glu)
c.765C>G (p.Asp255Glu)
 gnomAD v4
9g.137762814C>TCA467873931EHMT1c.1641C>T (p.Asp547=)
c.1527C>T (p.Asp509=)
c.1548C>T (p.Asp516=)
c.1681C>T (n.1681C>T)
c.1586C>T
c.1268C>T
c.810C>T (p.Asp270=)
c.*1376C>T (n.*1376C>T)
c.498C>T (p.Asp166=)
c.333C>T (p.Asp111=)
c.1632C>T (p.Asp544=)
c.1623C>T (p.Asp541=)
c.1650C>T (p.Asp550=)
c.1647C>T (p.Asp549=)
c.1629C>T (p.Asp543=)
c.1572C>T (p.Asp524=)
c.72C>T (p.Asp24=)
c.1620C>T (p.Asp540=)
c.1626C>T (p.Asp542=)
c.1542C>T (p.Asp514=)
c.1470C>T (p.Asp490=)
c.765C>T (p.Asp255=)
9g.137762815C>ACA375769829EHMT1c.1642C>A (p.His548Asn)
c.1528C>A (p.His510Asn)
c.1549C>A (p.His517Asn)
c.1682C>A (n.1682C>A)
c.1587C>A
c.1269C>A
c.811C>A (p.His271Asn)
c.*1377C>A (n.*1377C>A)
c.499C>A (p.His167Asn)
c.334C>A (p.His112Asn)
c.1633C>A (p.His545Asn)
c.1624C>A (p.His542Asn)
c.1651C>A (p.His551Asn)
c.1648C>A (p.His550Asn)
c.1630C>A (p.His544Asn)
c.1573C>A (p.His525Asn)
c.73C>A (p.His25Asn)
c.1621C>A (p.His541Asn)
c.1627C>A (p.His543Asn)
c.1543C>A (p.His515Asn)
c.1471C>A (p.His491Asn)
c.766C>A (p.His256Asn)
 gnomAD v4
9g.137762815C>GCA375769825EHMT1c.1642C>G (p.His548Asp)
c.1528C>G (p.His510Asp)
c.1549C>G (p.His517Asp)
c.1682C>G (n.1682C>G)
c.1587C>G
c.1269C>G
c.811C>G (p.His271Asp)
c.*1377C>G (n.*1377C>G)
c.499C>G (p.His167Asp)
c.334C>G (p.His112Asp)
c.1633C>G (p.His545Asp)
c.1624C>G (p.His542Asp)
c.1651C>G (p.His551Asp)
c.1648C>G (p.His550Asp)
c.1630C>G (p.His544Asp)
c.1573C>G (p.His525Asp)
c.73C>G (p.His25Asp)
c.1621C>G (p.His541Asp)
c.1627C>G (p.His543Asp)
c.1543C>G (p.His515Asp)
c.1471C>G (p.His491Asp)
c.766C>G (p.His256Asp)
9g.137762815C>TCA375769826EHMT1c.1642C>T (p.His548Tyr)
c.1528C>T (p.His510Tyr)
c.1549C>T (p.His517Tyr)
c.1682C>T (n.1682C>T)
c.1587C>T
c.1269C>T
c.811C>T (p.His271Tyr)
c.*1377C>T (n.*1377C>T)
c.499C>T (p.His167Tyr)
c.334C>T (p.His112Tyr)
c.1633C>T (p.His545Tyr)
c.1624C>T (p.His542Tyr)
c.1651C>T (p.His551Tyr)
c.1648C>T (p.His550Tyr)
c.1630C>T (p.His544Tyr)
c.1573C>T (p.His525Tyr)
c.73C>T (p.His25Tyr)
c.1621C>T (p.His541Tyr)
c.1627C>T (p.His543Tyr)
c.1543C>T (p.His515Tyr)
c.1471C>T (p.His491Tyr)
c.766C>T (p.His256Tyr)
 COSMIC COSMIC COSMIC
9g.137762816A>CCA375769830EHMT1c.1643A>C (p.His548Pro)
c.1529A>C (p.His510Pro)
c.1550A>C (p.His517Pro)
c.1683A>C (n.1683A>C)
c.1588A>C
c.1270A>C
c.812A>C (p.His271Pro)
c.*1378A>C (n.*1378A>C)
c.500A>C (p.His167Pro)
c.335A>C (p.His112Pro)
c.1634A>C (p.His545Pro)
c.1625A>C (p.His542Pro)
c.1652A>C (p.His551Pro)
c.1649A>C (p.His550Pro)
c.1631A>C (p.His544Pro)
c.1574A>C (p.His525Pro)
c.74A>C (p.His25Pro)
c.1622A>C (p.His541Pro)
c.1628A>C (p.His543Pro)
c.1544A>C (p.His515Pro)
c.1472A>C (p.His491Pro)
c.767A>C (p.His256Pro)
9g.137762816A>GCA375769831EHMT1c.1643A>G (p.His548Arg)
c.1529A>G (p.His510Arg)
c.1550A>G (p.His517Arg)
c.1683A>G (n.1683A>G)
c.1588A>G
c.1270A>G
c.812A>G (p.His271Arg)
c.*1378A>G (n.*1378A>G)
c.500A>G (p.His167Arg)
c.335A>G (p.His112Arg)
c.1634A>G (p.His545Arg)
c.1625A>G (p.His542Arg)
c.1652A>G (p.His551Arg)
c.1649A>G (p.His550Arg)
c.1631A>G (p.His544Arg)
c.1574A>G (p.His525Arg)
c.74A>G (p.His25Arg)
c.1622A>G (p.His541Arg)
c.1628A>G (p.His543Arg)
c.1544A>G (p.His515Arg)
c.1472A>G (p.His491Arg)
c.767A>G (p.His256Arg)
9g.137762816A>TCA375769832EHMT1c.1643A>T (p.His548Leu)
c.1529A>T (p.His510Leu)
c.1550A>T (p.His517Leu)
c.1683A>T (n.1683A>T)
c.1588A>T
c.1270A>T
c.812A>T (p.His271Leu)
c.*1378A>T (n.*1378A>T)
c.500A>T (p.His167Leu)
c.335A>T (p.His112Leu)
c.1634A>T (p.His545Leu)
c.1625A>T (p.His542Leu)
c.1652A>T (p.His551Leu)
c.1649A>T (p.His550Leu)
c.1631A>T (p.His544Leu)
c.1574A>T (p.His525Leu)
c.74A>T (p.His25Leu)
c.1622A>T (p.His541Leu)
c.1628A>T (p.His543Leu)
c.1544A>T (p.His515Leu)
c.1472A>T (p.His491Leu)
c.767A>T (p.His256Leu)
9g.137762817T>ACA375769833EHMT1c.1644T>A (p.His548Gln)
c.1530T>A (p.His510Gln)
c.1551T>A (p.His517Gln)
c.1684T>A (n.1684T>A)
c.1589T>A
c.1271T>A
c.813T>A (p.His271Gln)
c.*1379T>A (n.*1379T>A)
c.501T>A (p.His167Gln)
c.336T>A (p.His112Gln)
c.1635T>A (p.His545Gln)
c.1626T>A (p.His542Gln)
c.1653T>A (p.His551Gln)
c.1650T>A (p.His550Gln)
c.1632T>A (p.His544Gln)
c.1575T>A (p.His525Gln)
c.75T>A (p.His25Gln)
c.1623T>A (p.His541Gln)
c.1629T>A (p.His543Gln)
c.1545T>A (p.His515Gln)
c.1473T>A (p.His491Gln)
c.768T>A (p.His256Gln)
 gnomAD v4
9g.137762817T>CCA467873932EHMT1c.1644T>C (p.His548=)
c.1530T>C (p.His510=)
c.1551T>C (p.His517=)
c.1684T>C (n.1684T>C)
c.1589T>C
c.1271T>C
c.813T>C (p.His271=)
c.*1379T>C (n.*1379T>C)
c.501T>C (p.His167=)
c.336T>C (p.His112=)
c.1635T>C (p.His545=)
c.1626T>C (p.His542=)
c.1653T>C (p.His551=)
c.1650T>C (p.His550=)
c.1632T>C (p.His544=)
c.1575T>C (p.His525=)
c.75T>C (p.His25=)
c.1623T>C (p.His541=)
c.1629T>C (p.His543=)
c.1545T>C (p.His515=)
c.1473T>C (p.His491=)
c.768T>C (p.His256=)
 dbSNP gnomAD v4
9g.137762817T>GCA375769835EHMT1c.1644T>G (p.His548Gln)
c.1530T>G (p.His510Gln)
c.1551T>G (p.His517Gln)
c.1684T>G (n.1684T>G)
c.1589T>G
c.1271T>G
c.813T>G (p.His271Gln)
c.*1379T>G (n.*1379T>G)
c.501T>G (p.His167Gln)
c.336T>G (p.His112Gln)
c.1635T>G (p.His545Gln)
c.1626T>G (p.His542Gln)
c.1653T>G (p.His551Gln)
c.1650T>G (p.His550Gln)
c.1632T>G (p.His544Gln)
c.1575T>G (p.His525Gln)
c.75T>G (p.His25Gln)
c.1623T>G (p.His541Gln)
c.1629T>G (p.His543Gln)
c.1545T>G (p.His515Gln)
c.1473T>G (p.His491Gln)
c.768T>G (p.His256Gln)
9g.137762817T=CA1884659609EHMT1c.1644T= (p.His548=)
c.1530T= (p.His510=)
c.1551T= (p.His517=)
c.1684T= (n.1684T=)
c.1589T=
c.1271T=
c.813T= (p.His271=)
c.*1379T= (n.*1379T=)
c.501T= (p.His167=)
c.336T= (p.His112=)
c.1635T= (p.His545=)
c.1626T= (p.His542=)
c.1653T= (p.His551=)
c.1650T= (p.His550=)
c.1632T= (p.His544=)
c.1575T= (p.His525=)
c.75T= (p.His25=)
c.1623T= (p.His541=)
c.1629T= (p.His543=)
c.1545T= (p.His515=)
c.1473T= (p.His491=)
c.768T= (p.His256=)
9g.137762818G>ACA375769846EHMT1c.1645G>A (p.Glu549Lys)
c.1531G>A (p.Glu511Lys)
c.1552G>A (p.Glu518Lys)
c.1685G>A (n.1685G>A)
c.1590G>A
c.1272G>A
c.814G>A (p.Glu272Lys)
c.*1380G>A (n.*1380G>A)
c.502G>A (p.Glu168Lys)
c.337G>A (p.Glu113Lys)
c.1636G>A (p.Glu546Lys)
c.1627G>A (p.Glu543Lys)
c.1654G>A (p.Glu552Lys)
c.1651G>A (p.Glu551Lys)
c.1633G>A (p.Glu545Lys)
c.1576G>A (p.Glu526Lys)
c.76G>A (p.Glu26Lys)
c.1624G>A (p.Glu542Lys)
c.1630G>A (p.Glu544Lys)
c.1546G>A (p.Glu516Lys)
c.1474G>A (p.Glu492Lys)
c.769G>A (p.Glu257Lys)
9g.137762818G>CCA375769848EHMT1c.1645G>C (p.Glu549Gln)
c.1531G>C (p.Glu511Gln)
c.1552G>C (p.Glu518Gln)
c.1685G>C (n.1685G>C)
c.1590G>C
c.1272G>C
c.814G>C (p.Glu272Gln)
c.*1380G>C (n.*1380G>C)
c.502G>C (p.Glu168Gln)
c.337G>C (p.Glu113Gln)
c.1636G>C (p.Glu546Gln)
c.1627G>C (p.Glu543Gln)
c.1654G>C (p.Glu552Gln)
c.1651G>C (p.Glu551Gln)
c.1633G>C (p.Glu545Gln)
c.1576G>C (p.Glu526Gln)
c.76G>C (p.Glu26Gln)
c.1624G>C (p.Glu542Gln)
c.1630G>C (p.Glu544Gln)
c.1546G>C (p.Glu516Gln)
c.1474G>C (p.Glu492Gln)
c.769G>C (p.Glu257Gln)
9g.137762818G>TCA375769849EHMT1c.1645G>T (p.Glu549Ter)
c.1531G>T (p.Glu511Ter)
c.1552G>T (p.Glu518Ter)
c.1685G>T (n.1685G>T)
c.1590G>T
c.1272G>T
c.814G>T (p.Glu272Ter)
c.*1380G>T (n.*1380G>T)
c.502G>T (p.Glu168Ter)
c.337G>T (p.Glu113Ter)
c.1636G>T (p.Glu546Ter)
c.1627G>T (p.Glu543Ter)
c.1654G>T (p.Glu552Ter)
c.1651G>T (p.Glu551Ter)
c.1633G>T (p.Glu545Ter)
c.1576G>T (p.Glu526Ter)
c.76G>T (p.Glu26Ter)
c.1624G>T (p.Glu542Ter)
c.1630G>T (p.Glu544Ter)
c.1546G>T (p.Glu516Ter)
c.1474G>T (p.Glu492Ter)
c.769G>T (p.Glu257Ter)
9g.137762819A>CCA375769853EHMT1c.1646A>C (p.Glu549Ala)
c.1532A>C (p.Glu511Ala)
c.1553A>C (p.Glu518Ala)
c.1686A>C (n.1686A>C)
c.1591A>C
c.1273A>C
c.815A>C (p.Glu272Ala)
c.*1381A>C (n.*1381A>C)
c.503A>C (p.Glu168Ala)
c.338A>C (p.Glu113Ala)
c.1637A>C (p.Glu546Ala)
c.1628A>C (p.Glu543Ala)
c.1655A>C (p.Glu552Ala)
c.1652A>C (p.Glu551Ala)
c.1634A>C (p.Glu545Ala)
c.1577A>C (p.Glu526Ala)
c.77A>C (p.Glu26Ala)
c.1625A>C (p.Glu542Ala)
c.1631A>C (p.Glu544Ala)
c.1547A>C (p.Glu516Ala)
c.1475A>C (p.Glu492Ala)
c.770A>C (p.Glu257Ala)
9g.137762819A>GCA375769855EHMT1c.1646A>G (p.Glu549Gly)
c.1532A>G (p.Glu511Gly)
c.1553A>G (p.Glu518Gly)
c.1686A>G (n.1686A>G)
c.1591A>G
c.1273A>G
c.815A>G (p.Glu272Gly)
c.*1381A>G (n.*1381A>G)
c.503A>G (p.Glu168Gly)
c.338A>G (p.Glu113Gly)
c.1637A>G (p.Glu546Gly)
c.1628A>G (p.Glu543Gly)
c.1655A>G (p.Glu552Gly)
c.1652A>G (p.Glu551Gly)
c.1634A>G (p.Glu545Gly)
c.1577A>G (p.Glu526Gly)
c.77A>G (p.Glu26Gly)
c.1625A>G (p.Glu542Gly)
c.1631A>G (p.Glu544Gly)
c.1547A>G (p.Glu516Gly)
c.1475A>G (p.Glu492Gly)
c.770A>G (p.Glu257Gly)
9g.137762819A>TCA375769859EHMT1c.1646A>T (p.Glu549Val)
c.1532A>T (p.Glu511Val)
c.1553A>T (p.Glu518Val)
c.1686A>T (n.1686A>T)
c.1591A>T
c.1273A>T
c.815A>T (p.Glu272Val)
c.*1381A>T (n.*1381A>T)
c.503A>T (p.Glu168Val)
c.338A>T (p.Glu113Val)
c.1637A>T (p.Glu546Val)
c.1628A>T (p.Glu543Val)
c.1655A>T (p.Glu552Val)
c.1652A>T (p.Glu551Val)
c.1634A>T (p.Glu545Val)
c.1577A>T (p.Glu526Val)
c.77A>T (p.Glu26Val)
c.1625A>T (p.Glu542Val)
c.1631A>T (p.Glu544Val)
c.1547A>T (p.Glu516Val)
c.1475A>T (p.Glu492Val)
c.770A>T (p.Glu257Val)
9g.137762820A=CA1884659610EHMT1c.1647A= (p.Glu549=)
c.1533A= (p.Glu511=)
c.1554A= (p.Glu518=)
c.1687A= (n.1687A=)
c.1592A=
c.1274A=
c.816A= (p.Glu272=)
c.*1382A= (n.*1382A=)
c.504A= (p.Glu168=)
c.339A= (p.Glu113=)
c.1638A= (p.Glu546=)
c.1629A= (p.Glu543=)
c.1656A= (p.Glu552=)
c.1653A= (p.Glu551=)
c.1635A= (p.Glu545=)
c.1578A= (p.Glu526=)
c.78A= (p.Glu26=)
c.1626A= (p.Glu542=)
c.1632A= (p.Glu544=)
c.1548A= (p.Glu516=)
c.1476A= (p.Glu492=)
c.771A= (p.Glu257=)
9g.137762820A>CCA5374677EHMT1c.1647A>C (p.Glu549Asp)
c.1533A>C (p.Glu511Asp)
c.1554A>C (p.Glu518Asp)
c.1687A>C (n.1687A>C)
c.1592A>C
c.1274A>C
c.816A>C (p.Glu272Asp)
c.*1382A>C (n.*1382A>C)
c.504A>C (p.Glu168Asp)
c.339A>C (p.Glu113Asp)
c.1638A>C (p.Glu546Asp)
c.1629A>C (p.Glu543Asp)
c.1656A>C (p.Glu552Asp)
c.1653A>C (p.Glu551Asp)
c.1635A>C (p.Glu545Asp)
c.1578A>C (p.Glu526Asp)
c.78A>C (p.Glu26Asp)
c.1626A>C (p.Glu542Asp)
c.1632A>C (p.Glu544Asp)
c.1548A>C (p.Glu516Asp)
c.1476A>C (p.Glu492Asp)
c.771A>C (p.Glu257Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762820A>GCA467873933EHMT1c.1647A>G (p.Glu549=)
c.1533A>G (p.Glu511=)
c.1554A>G (p.Glu518=)
c.1687A>G (n.1687A>G)
c.1592A>G
c.1274A>G
c.816A>G (p.Glu272=)
c.*1382A>G (n.*1382A>G)
c.504A>G (p.Glu168=)
c.339A>G (p.Glu113=)
c.1638A>G (p.Glu546=)
c.1629A>G (p.Glu543=)
c.1656A>G (p.Glu552=)
c.1653A>G (p.Glu551=)
c.1635A>G (p.Glu545=)
c.1578A>G (p.Glu526=)
c.78A>G (p.Glu26=)
c.1626A>G (p.Glu542=)
c.1632A>G (p.Glu544=)
c.1548A>G (p.Glu516=)
c.1476A>G (p.Glu492=)
c.771A>G (p.Glu257=)
9g.137762820A>TCA375769860EHMT1c.1647A>T (p.Glu549Asp)
c.1533A>T (p.Glu511Asp)
c.1554A>T (p.Glu518Asp)
c.1687A>T (n.1687A>T)
c.1592A>T
c.1274A>T
c.816A>T (p.Glu272Asp)
c.*1382A>T (n.*1382A>T)
c.504A>T (p.Glu168Asp)
c.339A>T (p.Glu113Asp)
c.1638A>T (p.Glu546Asp)
c.1629A>T (p.Glu543Asp)
c.1656A>T (p.Glu552Asp)
c.1653A>T (p.Glu551Asp)
c.1635A>T (p.Glu545Asp)
c.1578A>T (p.Glu526Asp)
c.78A>T (p.Glu26Asp)
c.1626A>T (p.Glu542Asp)
c.1632A>T (p.Glu544Asp)
c.1548A>T (p.Glu516Asp)
c.1476A>T (p.Glu492Asp)
c.771A>T (p.Glu257Asp)
9g.137762821G>ACA375769862EHMT1c.1647+1G>A (n.1647+1G>A)
c.1648G>A (p.Val550Ile)
c.1533+1G>A (n.1533+1G>A)
c.1554+1G>A (n.1554+1G>A)
c.1687+1G>A (n.1687+1G>A)
c.1592+1G>A
c.1274+1G>A
c.816+1G>A (n.816+1G>A)
c.*1382+1G>A (n.*1382+1G>A)
c.504+1G>A (n.504+1G>A)
c.339+1G>A (n.339+1G>A)
c.1638+1G>A (n.1638+1G>A)
c.1629+1G>A (n.1629+1G>A)
c.1656+1G>A (n.1656+1G>A)
c.1653+1G>A (n.1653+1G>A)
c.1635+1G>A (n.1635+1G>A)
c.1578+1G>A (n.1578+1G>A)
c.78+1G>A (n.78+1G>A)
c.1626+1G>A (n.1626+1G>A)
c.1555G>A (p.Val519Ile)
c.1632+1G>A (n.1632+1G>A)
c.1548+1G>A (n.1548+1G>A)
c.1476+1G>A (n.1476+1G>A)
c.771+1G>A (n.771+1G>A)
9g.137762821G>CCA375769866EHMT1c.1647+1G>C (n.1647+1G>C)
c.1648G>C (p.Val550Leu)
c.1533+1G>C (n.1533+1G>C)
c.1554+1G>C (n.1554+1G>C)
c.1687+1G>C (n.1687+1G>C)
c.1592+1G>C
c.1274+1G>C
c.816+1G>C (n.816+1G>C)
c.*1382+1G>C (n.*1382+1G>C)
c.504+1G>C (n.504+1G>C)
c.339+1G>C (n.339+1G>C)
c.1638+1G>C (n.1638+1G>C)
c.1629+1G>C (n.1629+1G>C)
c.1656+1G>C (n.1656+1G>C)
c.1653+1G>C (n.1653+1G>C)
c.1635+1G>C (n.1635+1G>C)
c.1578+1G>C (n.1578+1G>C)
c.78+1G>C (n.78+1G>C)
c.1626+1G>C (n.1626+1G>C)
c.1555G>C (p.Val519Leu)
c.1632+1G>C (n.1632+1G>C)
c.1548+1G>C (n.1548+1G>C)
c.1476+1G>C (n.1476+1G>C)
c.771+1G>C (n.771+1G>C)
9g.137762821G>TCA375769867EHMT1c.1647+1G>T (n.1647+1G>T)
c.1648G>T (p.Val550Leu)
c.1533+1G>T (n.1533+1G>T)
c.1554+1G>T (n.1554+1G>T)
c.1687+1G>T (n.1687+1G>T)
c.1592+1G>T
c.1274+1G>T
c.816+1G>T (n.816+1G>T)
c.*1382+1G>T (n.*1382+1G>T)
c.504+1G>T (n.504+1G>T)
c.339+1G>T (n.339+1G>T)
c.1638+1G>T (n.1638+1G>T)
c.1629+1G>T (n.1629+1G>T)
c.1656+1G>T (n.1656+1G>T)
c.1653+1G>T (n.1653+1G>T)
c.1635+1G>T (n.1635+1G>T)
c.1578+1G>T (n.1578+1G>T)
c.78+1G>T (n.78+1G>T)
c.1626+1G>T (n.1626+1G>T)
c.1555G>T (p.Val519Leu)
c.1632+1G>T (n.1632+1G>T)
c.1548+1G>T (n.1548+1G>T)
c.1476+1G>T (n.1476+1G>T)
c.771+1G>T (n.771+1G>T)
9g.137762822T>ACA375769870EHMT1c.1647+2T>A (n.1647+2T>A)
c.1649T>A (p.Val550Glu)
c.1533+2T>A (n.1533+2T>A)
c.1554+2T>A (n.1554+2T>A)
c.1687+2T>A (n.1687+2T>A)
c.1592+2T>A
c.1274+2T>A
c.816+2T>A (n.816+2T>A)
c.*1382+2T>A (n.*1382+2T>A)
c.504+2T>A (n.504+2T>A)
c.339+2T>A (n.339+2T>A)
c.1638+2T>A (n.1638+2T>A)
c.1629+2T>A (n.1629+2T>A)
c.1656+2T>A (n.1656+2T>A)
c.1653+2T>A (n.1653+2T>A)
c.1635+2T>A (n.1635+2T>A)
c.1578+2T>A (n.1578+2T>A)
c.78+2T>A (n.78+2T>A)
c.1626+2T>A (n.1626+2T>A)
c.1556T>A (p.Val519Glu)
c.1632+2T>A (n.1632+2T>A)
c.1548+2T>A (n.1548+2T>A)
c.1476+2T>A (n.1476+2T>A)
c.771+2T>A (n.771+2T>A)
9g.137762822T>CCA16043441EHMT1c.1647+2T>C (n.1647+2T>C)
c.1649T>C (p.Val550Ala)
c.1533+2T>C (n.1533+2T>C)
c.1554+2T>C (n.1554+2T>C)
c.1687+2T>C (n.1687+2T>C)
c.1592+2T>C
c.1274+2T>C
c.816+2T>C (n.816+2T>C)
c.*1382+2T>C (n.*1382+2T>C)
c.504+2T>C (n.504+2T>C)
c.339+2T>C (n.339+2T>C)
c.1638+2T>C (n.1638+2T>C)
c.1629+2T>C (n.1629+2T>C)
c.1656+2T>C (n.1656+2T>C)
c.1653+2T>C (n.1653+2T>C)
c.1635+2T>C (n.1635+2T>C)
c.1578+2T>C (n.1578+2T>C)
c.78+2T>C (n.78+2T>C)
c.1626+2T>C (n.1626+2T>C)
c.1556T>C (p.Val519Ala)
c.1632+2T>C (n.1632+2T>C)
c.1548+2T>C (n.1548+2T>C)
c.1476+2T>C (n.1476+2T>C)
c.771+2T>C (n.771+2T>C)
 ClinVar dbSNP
9g.137762822T>GCA375769877EHMT1c.1647+2T>G (n.1647+2T>G)
c.1649T>G (p.Val550Gly)
c.1533+2T>G (n.1533+2T>G)
c.1554+2T>G (n.1554+2T>G)
c.1687+2T>G (n.1687+2T>G)
c.1592+2T>G
c.1274+2T>G
c.816+2T>G (n.816+2T>G)
c.*1382+2T>G (n.*1382+2T>G)
c.504+2T>G (n.504+2T>G)
c.339+2T>G (n.339+2T>G)
c.1638+2T>G (n.1638+2T>G)
c.1629+2T>G (n.1629+2T>G)
c.1656+2T>G (n.1656+2T>G)
c.1653+2T>G (n.1653+2T>G)
c.1635+2T>G (n.1635+2T>G)
c.1578+2T>G (n.1578+2T>G)
c.78+2T>G (n.78+2T>G)
c.1626+2T>G (n.1626+2T>G)
c.1556T>G (p.Val519Gly)
c.1632+2T>G (n.1632+2T>G)
c.1548+2T>G (n.1548+2T>G)
c.1476+2T>G (n.1476+2T>G)
c.771+2T>G (n.771+2T>G)
9g.137762822T=CA1884659611EHMT1c.1647+2T= (n.1647+2T=)
c.1649T= (p.Val550=)
c.1533+2T= (n.1533+2T=)
c.1554+2T= (n.1554+2T=)
c.1687+2T= (n.1687+2T=)
c.1592+2T=
c.1274+2T=
c.816+2T= (n.816+2T=)
c.*1382+2T= (n.*1382+2T=)
c.504+2T= (n.504+2T=)
c.339+2T= (n.339+2T=)
c.1638+2T= (n.1638+2T=)
c.1629+2T= (n.1629+2T=)
c.1656+2T= (n.1656+2T=)
c.1653+2T= (n.1653+2T=)
c.1635+2T= (n.1635+2T=)
c.1578+2T= (n.1578+2T=)
c.78+2T= (n.78+2T=)
c.1626+2T= (n.1626+2T=)
c.1556T= (p.Val519=)
c.1632+2T= (n.1632+2T=)
c.1548+2T= (n.1548+2T=)
c.1476+2T= (n.1476+2T=)
c.771+2T= (n.771+2T=)
9g.137762826C=CA1884659612EHMT1c.1647+6C= (n.1647+6C=)
c.1653C= (p.Ser551=)
c.1533+6C= (n.1533+6C=)
c.1554+6C= (n.1554+6C=)
c.1687+6C= (n.1687+6C=)
c.1592+6C=
c.1274+6C=
c.816+6C= (n.816+6C=)
c.*1382+6C= (n.*1382+6C=)
c.504+6C= (n.504+6C=)
c.339+6C= (n.339+6C=)
c.1638+6C= (n.1638+6C=)
c.1629+6C= (n.1629+6C=)
c.1656+6C= (n.1656+6C=)
c.1653+6C= (n.1653+6C=)
c.1635+6C= (n.1635+6C=)
c.1578+6C= (n.1578+6C=)
c.78+6C= (n.78+6C=)
c.1626+6C= (n.1626+6C=)
c.1560C= (p.Ser520=)
c.1632+6C= (n.1632+6C=)
c.1548+6C= (n.1548+6C=)
c.1476+6C= (n.1476+6C=)
c.771+6C= (n.771+6C=)
9g.137762826C>GCA1884659613EHMT1c.1647+6C>G (n.1647+6C>G)
c.1653C>G (p.Ser551Arg)
c.1533+6C>G (n.1533+6C>G)
c.1554+6C>G (n.1554+6C>G)
c.1687+6C>G (n.1687+6C>G)
c.1592+6C>G
c.1274+6C>G
c.816+6C>G (n.816+6C>G)
c.*1382+6C>G (n.*1382+6C>G)
c.504+6C>G (n.504+6C>G)
c.339+6C>G (n.339+6C>G)
c.1638+6C>G (n.1638+6C>G)
c.1629+6C>G (n.1629+6C>G)
c.1656+6C>G (n.1656+6C>G)
c.1653+6C>G (n.1653+6C>G)
c.1635+6C>G (n.1635+6C>G)
c.1578+6C>G (n.1578+6C>G)
c.78+6C>G (n.78+6C>G)
c.1626+6C>G (n.1626+6C>G)
c.1560C>G (p.Ser520Arg)
c.1632+6C>G (n.1632+6C>G)
c.1548+6C>G (n.1548+6C>G)
c.1476+6C>G (n.1476+6C>G)
c.771+6C>G (n.771+6C>G)
 dbSNP
9g.137762828C>ACA1130130217EHMT1c.1647+8C>A (n.1647+8C>A)
c.1655C>A (p.Thr552Lys)
c.1533+8C>A (n.1533+8C>A)
c.1554+8C>A (n.1554+8C>A)
c.1687+8C>A (n.1687+8C>A)
c.1592+8C>A
c.1274+8C>A
c.816+8C>A (n.816+8C>A)
c.*1382+8C>A (n.*1382+8C>A)
c.504+8C>A (n.504+8C>A)
c.339+8C>A (n.339+8C>A)
c.1638+8C>A (n.1638+8C>A)
c.1629+8C>A (n.1629+8C>A)
c.1656+8C>A (n.1656+8C>A)
c.1653+8C>A (n.1653+8C>A)
c.1635+8C>A (n.1635+8C>A)
c.1578+8C>A (n.1578+8C>A)
c.78+8C>A (n.78+8C>A)
c.1626+8C>A (n.1626+8C>A)
c.1562C>A (p.Thr521Lys)
c.1632+8C>A (n.1632+8C>A)
c.1548+8C>A (n.1548+8C>A)
c.1476+8C>A (n.1476+8C>A)
c.771+8C>A (n.771+8C>A)
 dbSNP gnomAD v3 gnomAD v4
9g.137762828C=CA1884659614EHMT1c.1647+8C= (n.1647+8C=)
c.1655C= (p.Thr552=)
c.1533+8C= (n.1533+8C=)
c.1554+8C= (n.1554+8C=)
c.1687+8C= (n.1687+8C=)
c.1592+8C=
c.1274+8C=
c.816+8C= (n.816+8C=)
c.*1382+8C= (n.*1382+8C=)
c.504+8C= (n.504+8C=)
c.339+8C= (n.339+8C=)
c.1638+8C= (n.1638+8C=)
c.1629+8C= (n.1629+8C=)
c.1656+8C= (n.1656+8C=)
c.1653+8C= (n.1653+8C=)
c.1635+8C= (n.1635+8C=)
c.1578+8C= (n.1578+8C=)
c.78+8C= (n.78+8C=)
c.1626+8C= (n.1626+8C=)
c.1562C= (p.Thr521=)
c.1632+8C= (n.1632+8C=)
c.1548+8C= (n.1548+8C=)
c.1476+8C= (n.1476+8C=)
c.771+8C= (n.771+8C=)
9g.137762828C>TCA5374678EHMT1c.1647+8C>T (n.1647+8C>T)
c.1655C>T (p.Thr552Met)
c.1533+8C>T (n.1533+8C>T)
c.1554+8C>T (n.1554+8C>T)
c.1687+8C>T (n.1687+8C>T)
c.1592+8C>T
c.1274+8C>T
c.816+8C>T (n.816+8C>T)
c.*1382+8C>T (n.*1382+8C>T)
c.504+8C>T (n.504+8C>T)
c.339+8C>T (n.339+8C>T)
c.1638+8C>T (n.1638+8C>T)
c.1629+8C>T (n.1629+8C>T)
c.1656+8C>T (n.1656+8C>T)
c.1653+8C>T (n.1653+8C>T)
c.1635+8C>T (n.1635+8C>T)
c.1578+8C>T (n.1578+8C>T)
c.78+8C>T (n.78+8C>T)
c.1626+8C>T (n.1626+8C>T)
c.1562C>T (p.Thr521Met)
c.1632+8C>T (n.1632+8C>T)
c.1548+8C>T (n.1548+8C>T)
c.1476+8C>T (n.1476+8C>T)
c.771+8C>T (n.771+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762829G>ACA5374679EHMT1c.1647+9G>A (n.1647+9G>A)
c.1656G>A (p.Thr552=)
c.1533+9G>A (n.1533+9G>A)
c.1554+9G>A (n.1554+9G>A)
c.1687+9G>A (n.1687+9G>A)
c.1592+9G>A
c.1274+9G>A
c.816+9G>A (n.816+9G>A)
c.*1382+9G>A (n.*1382+9G>A)
c.504+9G>A (n.504+9G>A)
c.339+9G>A (n.339+9G>A)
c.1638+9G>A (n.1638+9G>A)
c.1629+9G>A (n.1629+9G>A)
c.1656+9G>A (n.1656+9G>A)
c.1653+9G>A (n.1653+9G>A)
c.1635+9G>A (n.1635+9G>A)
c.1578+9G>A (n.1578+9G>A)
c.78+9G>A (n.78+9G>A)
c.1626+9G>A (n.1626+9G>A)
c.1563G>A (p.Thr521=)
c.1632+9G>A (n.1632+9G>A)
c.1548+9G>A (n.1548+9G>A)
c.1476+9G>A (n.1476+9G>A)
c.771+9G>A (n.771+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762829G>CCA201793013EHMT1c.1647+9G>C (n.1647+9G>C)
c.1656G>C (p.Thr552=)
c.1533+9G>C (n.1533+9G>C)
c.1554+9G>C (n.1554+9G>C)
c.1687+9G>C (n.1687+9G>C)
c.1592+9G>C
c.1274+9G>C
c.816+9G>C (n.816+9G>C)
c.*1382+9G>C (n.*1382+9G>C)
c.504+9G>C (n.504+9G>C)
c.339+9G>C (n.339+9G>C)
c.1638+9G>C (n.1638+9G>C)
c.1629+9G>C (n.1629+9G>C)
c.1656+9G>C (n.1656+9G>C)
c.1653+9G>C (n.1653+9G>C)
c.1635+9G>C (n.1635+9G>C)
c.1578+9G>C (n.1578+9G>C)
c.78+9G>C (n.78+9G>C)
c.1626+9G>C (n.1626+9G>C)
c.1563G>C (p.Thr521=)
c.1632+9G>C (n.1632+9G>C)
c.1548+9G>C (n.1548+9G>C)
c.1476+9G>C (n.1476+9G>C)
c.771+9G>C (n.771+9G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137762829G=CA1884659615EHMT1c.1647+9G= (n.1647+9G=)
c.1656G= (p.Thr552=)
c.1533+9G= (n.1533+9G=)
c.1554+9G= (n.1554+9G=)
c.1687+9G= (n.1687+9G=)
c.1592+9G=
c.1274+9G=
c.816+9G= (n.816+9G=)
c.*1382+9G= (n.*1382+9G=)
c.504+9G= (n.504+9G=)
c.339+9G= (n.339+9G=)
c.1638+9G= (n.1638+9G=)
c.1629+9G= (n.1629+9G=)
c.1656+9G= (n.1656+9G=)
c.1653+9G= (n.1653+9G=)
c.1635+9G= (n.1635+9G=)
c.1578+9G= (n.1578+9G=)
c.78+9G= (n.78+9G=)
c.1626+9G= (n.1626+9G=)
c.1563G= (p.Thr521=)
c.1632+9G= (n.1632+9G=)
c.1548+9G= (n.1548+9G=)
c.1476+9G= (n.1476+9G=)
c.771+9G= (n.771+9G=)
9g.137762829G>TCA591241244EHMT1c.1647+9G>T (n.1647+9G>T)
c.1656G>T (p.Thr552=)
c.1533+9G>T (n.1533+9G>T)
c.1554+9G>T (n.1554+9G>T)
c.1687+9G>T (n.1687+9G>T)
c.1592+9G>T
c.1274+9G>T
c.816+9G>T (n.816+9G>T)
c.*1382+9G>T (n.*1382+9G>T)
c.504+9G>T (n.504+9G>T)
c.339+9G>T (n.339+9G>T)
c.1638+9G>T (n.1638+9G>T)
c.1629+9G>T (n.1629+9G>T)
c.1656+9G>T (n.1656+9G>T)
c.1653+9G>T (n.1653+9G>T)
c.1635+9G>T (n.1635+9G>T)
c.1578+9G>T (n.1578+9G>T)
c.78+9G>T (n.78+9G>T)
c.1626+9G>T (n.1626+9G>T)
c.1563G>T (p.Thr521=)
c.1632+9G>T (n.1632+9G>T)
c.1548+9G>T (n.1548+9G>T)
c.1476+9G>T (n.1476+9G>T)
c.771+9G>T (n.771+9G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137762831T>GCA2692881777EHMT1c.1647+11T>G (n.1647+11T>G)
c.1658T>G (p.Phe553Cys)
c.1533+11T>G (n.1533+11T>G)
c.1554+11T>G (n.1554+11T>G)
c.1687+11T>G (n.1687+11T>G)
c.1592+11T>G
c.1274+11T>G
c.816+11T>G (n.816+11T>G)
c.*1382+11T>G (n.*1382+11T>G)
c.504+11T>G (n.504+11T>G)
c.339+11T>G (n.339+11T>G)
c.1638+11T>G (n.1638+11T>G)
c.1629+11T>G (n.1629+11T>G)
c.1656+11T>G (n.1656+11T>G)
c.1653+11T>G (n.1653+11T>G)
c.1635+11T>G (n.1635+11T>G)
c.1578+11T>G (n.1578+11T>G)
c.78+11T>G (n.78+11T>G)
c.1626+11T>G (n.1626+11T>G)
c.1565T>G (p.Phe522Cys)
c.1632+11T>G (n.1632+11T>G)
c.1548+11T>G (n.1548+11T>G)
c.1476+11T>G (n.1476+11T>G)
c.771+11T>G (n.771+11T>G)
 gnomAD v4
9g.137762832T>CCA591241246EHMT1c.1647+12T>C (n.1647+12T>C)
c.1659T>C (p.Phe553=)
c.1533+12T>C (n.1533+12T>C)
c.1554+12T>C (n.1554+12T>C)
c.1687+12T>C (n.1687+12T>C)
c.1592+12T>C
c.1274+12T>C
c.816+12T>C (n.816+12T>C)
c.*1382+12T>C (n.*1382+12T>C)
c.504+12T>C (n.504+12T>C)
c.339+12T>C (n.339+12T>C)
c.1638+12T>C (n.1638+12T>C)
c.1629+12T>C (n.1629+12T>C)
c.1656+12T>C (n.1656+12T>C)
c.1653+12T>C (n.1653+12T>C)
c.1635+12T>C (n.1635+12T>C)
c.1578+12T>C (n.1578+12T>C)
c.78+12T>C (n.78+12T>C)
c.1626+12T>C (n.1626+12T>C)
c.1566T>C (p.Phe522=)
c.1632+12T>C (n.1632+12T>C)
c.1548+12T>C (n.1548+12T>C)
c.1476+12T>C (n.1476+12T>C)
c.771+12T>C (n.771+12T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137762832T>GCA5374680EHMT1c.1647+12T>G (n.1647+12T>G)
c.1659T>G (p.Phe553Leu)
c.1533+12T>G (n.1533+12T>G)
c.1554+12T>G (n.1554+12T>G)
c.1687+12T>G (n.1687+12T>G)
c.1592+12T>G
c.1274+12T>G
c.816+12T>G (n.816+12T>G)
c.*1382+12T>G (n.*1382+12T>G)
c.504+12T>G (n.504+12T>G)
c.339+12T>G (n.339+12T>G)
c.1638+12T>G (n.1638+12T>G)
c.1629+12T>G (n.1629+12T>G)
c.1656+12T>G (n.1656+12T>G)
c.1653+12T>G (n.1653+12T>G)
c.1635+12T>G (n.1635+12T>G)
c.1578+12T>G (n.1578+12T>G)
c.78+12T>G (n.78+12T>G)
c.1626+12T>G (n.1626+12T>G)
c.1566T>G (p.Phe522Leu)
c.1632+12T>G (n.1632+12T>G)
c.1548+12T>G (n.1548+12T>G)
c.1476+12T>G (n.1476+12T>G)
c.771+12T>G (n.771+12T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762832T=CA1884659616EHMT1c.1647+12T= (n.1647+12T=)
c.1659T= (p.Phe553=)
c.1533+12T= (n.1533+12T=)
c.1554+12T= (n.1554+12T=)
c.1687+12T= (n.1687+12T=)
c.1592+12T=
c.1274+12T=
c.816+12T= (n.816+12T=)
c.*1382+12T= (n.*1382+12T=)
c.504+12T= (n.504+12T=)
c.339+12T= (n.339+12T=)
c.1638+12T= (n.1638+12T=)
c.1629+12T= (n.1629+12T=)
c.1656+12T= (n.1656+12T=)
c.1653+12T= (n.1653+12T=)
c.1635+12T= (n.1635+12T=)
c.1578+12T= (n.1578+12T=)
c.78+12T= (n.78+12T=)
c.1626+12T= (n.1626+12T=)
c.1566T= (p.Phe522=)
c.1632+12T= (n.1632+12T=)
c.1548+12T= (n.1548+12T=)
c.1476+12T= (n.1476+12T=)
c.771+12T= (n.771+12T=)
9g.137762833G>CCA5374681EHMT1c.1647+13G>C (n.1647+13G>C)
c.1660G>C (p.Val554Leu)
c.1533+13G>C (n.1533+13G>C)
c.1554+13G>C (n.1554+13G>C)
c.1687+13G>C (n.1687+13G>C)
c.1592+13G>C
c.1274+13G>C
c.816+13G>C (n.816+13G>C)
c.*1382+13G>C (n.*1382+13G>C)
c.504+13G>C (n.504+13G>C)
c.339+13G>C (n.339+13G>C)
c.1638+13G>C (n.1638+13G>C)
c.1629+13G>C (n.1629+13G>C)
c.1656+13G>C (n.1656+13G>C)
c.1653+13G>C (n.1653+13G>C)
c.1635+13G>C (n.1635+13G>C)
c.1578+13G>C (n.1578+13G>C)
c.78+13G>C (n.78+13G>C)
c.1626+13G>C (n.1626+13G>C)
c.1567G>C (p.Val523Leu)
c.1632+13G>C (n.1632+13G>C)
c.1548+13G>C (n.1548+13G>C)
c.1476+13G>C (n.1476+13G>C)
c.771+13G>C (n.771+13G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762833G=CA1884659617EHMT1c.1647+13G= (n.1647+13G=)
c.1660G= (p.Val554=)
c.1533+13G= (n.1533+13G=)
c.1554+13G= (n.1554+13G=)
c.1687+13G= (n.1687+13G=)
c.1592+13G=
c.1274+13G=
c.816+13G= (n.816+13G=)
c.*1382+13G= (n.*1382+13G=)
c.504+13G= (n.504+13G=)
c.339+13G= (n.339+13G=)
c.1638+13G= (n.1638+13G=)
c.1629+13G= (n.1629+13G=)
c.1656+13G= (n.1656+13G=)
c.1653+13G= (n.1653+13G=)
c.1635+13G= (n.1635+13G=)
c.1578+13G= (n.1578+13G=)
c.78+13G= (n.78+13G=)
c.1626+13G= (n.1626+13G=)
c.1567G= (p.Val523=)
c.1632+13G= (n.1632+13G=)
c.1548+13G= (n.1548+13G=)
c.1476+13G= (n.1476+13G=)
c.771+13G= (n.771+13G=)
9g.137762833G>TCA2692881778EHMT1c.1647+13G>T (n.1647+13G>T)
c.1660G>T (p.Val554Phe)
c.1533+13G>T (n.1533+13G>T)
c.1554+13G>T (n.1554+13G>T)
c.1687+13G>T (n.1687+13G>T)
c.1592+13G>T
c.1274+13G>T
c.816+13G>T (n.816+13G>T)
c.*1382+13G>T (n.*1382+13G>T)
c.504+13G>T (n.504+13G>T)
c.339+13G>T (n.339+13G>T)
c.1638+13G>T (n.1638+13G>T)
c.1629+13G>T (n.1629+13G>T)
c.1656+13G>T (n.1656+13G>T)
c.1653+13G>T (n.1653+13G>T)
c.1635+13G>T (n.1635+13G>T)
c.1578+13G>T (n.1578+13G>T)
c.78+13G>T (n.78+13G>T)
c.1626+13G>T (n.1626+13G>T)
c.1567G>T (p.Val523Phe)
c.1632+13G>T (n.1632+13G>T)
c.1548+13G>T (n.1548+13G>T)
c.1476+13G>T (n.1476+13G>T)
c.771+13G>T (n.771+13G>T)
 gnomAD v4
9g.137762837dupCA2579536153EHMT1c.1647+17dup (n.1647+17dup)
c.1664dup (p.Ile556HisfsTer?)
c.1533+17dup (n.1533+17dup)
c.1554+17dup (n.1554+17dup)
c.1687+17dup (n.1687+17dup)
c.1592+17dup
c.1274+17dup
c.816+17dup (n.816+17dup)
c.*1382+17dup (n.*1382+17dup)
c.504+17dup (n.504+17dup)
c.339+17dup (n.339+17dup)
c.1638+17dup (n.1638+17dup)
c.1629+17dup (n.1629+17dup)
c.1656+17dup (n.1656+17dup)
c.1653+17dup (n.1653+17dup)
c.1635+17dup (n.1635+17dup)
c.1578+17dup (n.1578+17dup)
c.78+17dup (n.78+17dup)
c.1626+17dup (n.1626+17dup)
c.1571dup (p.Ile525HisfsTer?)
c.1632+17dup (n.1632+17dup)
c.1548+17dup (n.1548+17dup)
c.1476+17dup (n.1476+17dup)
c.771+17dup (n.771+17dup)
9g.137762835T>CCA2692881779EHMT1c.1647+15T>C (n.1647+15T>C)
c.1662T>C (p.Val554=)
c.1533+15T>C (n.1533+15T>C)
c.1554+15T>C (n.1554+15T>C)
c.1687+15T>C (n.1687+15T>C)
c.1592+15T>C
c.1274+15T>C
c.816+15T>C (n.816+15T>C)
c.*1382+15T>C (n.*1382+15T>C)
c.504+15T>C (n.504+15T>C)
c.339+15T>C (n.339+15T>C)
c.1638+15T>C (n.1638+15T>C)
c.1629+15T>C (n.1629+15T>C)
c.1656+15T>C (n.1656+15T>C)
c.1653+15T>C (n.1653+15T>C)
c.1635+15T>C (n.1635+15T>C)
c.1578+15T>C (n.1578+15T>C)
c.78+15T>C (n.78+15T>C)
c.1626+15T>C (n.1626+15T>C)
c.1569T>C (p.Val523=)
c.1632+15T>C (n.1632+15T>C)
c.1548+15T>C (n.1548+15T>C)
c.1476+15T>C (n.1476+15T>C)
c.771+15T>C (n.771+15T>C)
 gnomAD v4

Number of alleles fetched