Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137762734A>C | CA375769032 | EHMT1 | c.1561A>C (p.Ser521Arg) c.1447A>C (p.Ser483Arg) c.1468A>C (p.Ser490Arg) c.1601A>C (n.1601A>C) c.1506A>C c.1188A>C c.730A>C (p.Ser244Arg) c.*1296A>C (n.*1296A>C) c.418A>C (p.Ser140Arg) c.253A>C (p.Ser85Arg) c.654A>C c.1552A>C (p.Ser518Arg) c.1543A>C (p.Ser515Arg) c.1570A>C (p.Ser524Arg) c.1567A>C (p.Ser523Arg) c.1549A>C (p.Ser517Arg) c.1492A>C (p.Ser498Arg) c.-9A>C (n.-9A>C) c.1540A>C (p.Ser514Arg) c.1546A>C (p.Ser516Arg) c.1462A>C (p.Ser488Arg) c.1390A>C (p.Ser464Arg) c.685A>C (p.Ser229Arg) | |
9 | g.137762734A>G | CA375769034 | EHMT1 | c.1561A>G (p.Ser521Gly) c.1447A>G (p.Ser483Gly) c.1468A>G (p.Ser490Gly) c.1601A>G (n.1601A>G) c.1506A>G c.1188A>G c.730A>G (p.Ser244Gly) c.*1296A>G (n.*1296A>G) c.418A>G (p.Ser140Gly) c.253A>G (p.Ser85Gly) c.654A>G c.1552A>G (p.Ser518Gly) c.1543A>G (p.Ser515Gly) c.1570A>G (p.Ser524Gly) c.1567A>G (p.Ser523Gly) c.1549A>G (p.Ser517Gly) c.1492A>G (p.Ser498Gly) c.-9A>G (n.-9A>G) c.1540A>G (p.Ser514Gly) c.1546A>G (p.Ser516Gly) c.1462A>G (p.Ser488Gly) c.1390A>G (p.Ser464Gly) c.685A>G (p.Ser229Gly) | |
9 | g.137762734A>T | CA375769027 | EHMT1 | c.1561A>T (p.Ser521Cys) c.1447A>T (p.Ser483Cys) c.1468A>T (p.Ser490Cys) c.1601A>T (n.1601A>T) c.1506A>T c.1188A>T c.730A>T (p.Ser244Cys) c.*1296A>T (n.*1296A>T) c.418A>T (p.Ser140Cys) c.253A>T (p.Ser85Cys) c.654A>T c.1552A>T (p.Ser518Cys) c.1543A>T (p.Ser515Cys) c.1570A>T (p.Ser524Cys) c.1567A>T (p.Ser523Cys) c.1549A>T (p.Ser517Cys) c.1492A>T (p.Ser498Cys) c.-9A>T (n.-9A>T) c.1540A>T (p.Ser514Cys) c.1546A>T (p.Ser516Cys) c.1462A>T (p.Ser488Cys) c.1390A>T (p.Ser464Cys) c.685A>T (p.Ser229Cys) | |
9 | g.137762735G>A | CA375769035 | EHMT1 | c.1562G>A (p.Ser521Asn) c.1448G>A (p.Ser483Asn) c.1469G>A (p.Ser490Asn) c.1602G>A (n.1602G>A) c.1507G>A c.1189G>A c.731G>A (p.Ser244Asn) c.*1297G>A (n.*1297G>A) c.419G>A (p.Ser140Asn) c.254G>A (p.Ser85Asn) c.655G>A c.1553G>A (p.Ser518Asn) c.1544G>A (p.Ser515Asn) c.1571G>A (p.Ser524Asn) c.1568G>A (p.Ser523Asn) c.1550G>A (p.Ser517Asn) c.1493G>A (p.Ser498Asn) c.-8G>A (n.-8G>A) c.1541G>A (p.Ser514Asn) c.1547G>A (p.Ser516Asn) c.1463G>A (p.Ser488Asn) c.1391G>A (p.Ser464Asn) c.686G>A (p.Ser229Asn) | |
9 | g.137762735G>C | CA375769036 | EHMT1 | c.1562G>C (p.Ser521Thr) c.1448G>C (p.Ser483Thr) c.1469G>C (p.Ser490Thr) c.1602G>C (n.1602G>C) c.1507G>C c.1189G>C c.731G>C (p.Ser244Thr) c.*1297G>C (n.*1297G>C) c.419G>C (p.Ser140Thr) c.254G>C (p.Ser85Thr) c.655G>C c.1553G>C (p.Ser518Thr) c.1544G>C (p.Ser515Thr) c.1571G>C (p.Ser524Thr) c.1568G>C (p.Ser523Thr) c.1550G>C (p.Ser517Thr) c.1493G>C (p.Ser498Thr) c.-8G>C (n.-8G>C) c.1541G>C (p.Ser514Thr) c.1547G>C (p.Ser516Thr) c.1463G>C (p.Ser488Thr) c.1391G>C (p.Ser464Thr) c.686G>C (p.Ser229Thr) | |
9 | g.137762735G>T | CA375769037 | EHMT1 | c.1562G>T (p.Ser521Ile) c.1448G>T (p.Ser483Ile) c.1469G>T (p.Ser490Ile) c.1602G>T (n.1602G>T) c.1507G>T c.1189G>T c.731G>T (p.Ser244Ile) c.*1297G>T (n.*1297G>T) c.419G>T (p.Ser140Ile) c.254G>T (p.Ser85Ile) c.655G>T c.1553G>T (p.Ser518Ile) c.1544G>T (p.Ser515Ile) c.1571G>T (p.Ser524Ile) c.1568G>T (p.Ser523Ile) c.1550G>T (p.Ser517Ile) c.1493G>T (p.Ser498Ile) c.-8G>T (n.-8G>T) c.1541G>T (p.Ser514Ile) c.1547G>T (p.Ser516Ile) c.1463G>T (p.Ser488Ile) c.1391G>T (p.Ser464Ile) c.686G>T (p.Ser229Ile) | |
9 | g.137762736C>A | CA375769047 | EHMT1 | c.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) | |
9 | g.137762736C= | CA1884659572 | EHMT1 | c.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=) | |
9 | g.137762736C>G | CA375769055 | EHMT1 | c.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) | |
9 | g.137762736C>T | CA5374663 | EHMT1 | c.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 |
9 | g.137762737T>A | CA375769070 | EHMT1 | c.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) | |
9 | g.137762737T>C | CA375769080 | EHMT1 | c.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) | |
9 | g.137762737T>G | CA375769071 | EHMT1 | c.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) | |
9 | g.137762738G>A | CA375769082 | EHMT1 | c.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) | |
9 | g.137762738G>C | CA375769083 | EHMT1 | c.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) | |
9 | g.137762738G>T | CA375769087 | EHMT1 | c.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) | |
9 | g.137762739C>A | CA375769091 | EHMT1 | c.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) | |
9 | g.137762739C>G | CA375769093 | EHMT1 | c.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) | |
9 | g.137762739C>T | CA467873886 | EHMT1 | c.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=) | |
9 | g.137762740C>A | CA467873887 | EHMT1 | c.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 |
9 | g.137762740C= | CA1884659573 | EHMT1 | c.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=) | |
9 | g.137762740C>G | CA375769099 | EHMT1 | c.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) | |
9 | g.137762740C>T | CA5374664 | EHMT1 | c.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 |
9 | g.137762741G>A | CA375769117 | EHMT1 | c.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 |
9 | g.137762741G>C | CA375769120 | EHMT1 | c.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) | |
9 | g.137762741G= | CA1884659574 | EHMT1 | c.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=) | |
9 | g.137762741G>T | CA375769122 | EHMT1 | c.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) | |
9 | g.137762742G>A | CA467873888 | EHMT1 | c.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 |
9 | g.137762742G>C | CA467873889 | EHMT1 | c.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=) | |
9 | g.137762742G= | CA1884659575 | EHMT1 | c.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=) | |
9 | g.137762742G>T | CA467873890 | EHMT1 | c.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 |
9 | g.137762743A>C | CA375769151 | EHMT1 | c.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 |
9 | g.137762743A>G | CA375769159 | EHMT1 | c.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) | |
9 | g.137762743A>T | CA375769162 | EHMT1 | c.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 |
9 | g.137762744T>A | CA375769184 | EHMT1 | c.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) | |
9 | g.137762744T>C | CA375769180 | EHMT1 | c.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) | |
9 | g.137762744T>G | CA375769176 | EHMT1 | c.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) | |
9 | g.137762745G>A | CA375769190 | EHMT1 | c.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 |
9 | g.137762745G>C | CA375769193 | EHMT1 | c.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) | |
9 | g.137762745G>T | CA375769197 | EHMT1 | c.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) | |
9 | g.137762746G>A | CA375769199 | EHMT1 | c.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) | |
9 | g.137762746G>C | CA375769202 | EHMT1 | c.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) | |
9 | g.137762746G>T | CA375769204 | EHMT1 | c.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) | |
9 | g.137762747A>C | CA375769205 | EHMT1 | c.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) | |
9 | g.137762747A>G | CA375769219 | EHMT1 | c.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) | |
9 | g.137762747A>T | CA375769208 | EHMT1 | c.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) | |
9 | g.137762748A>C | CA375769225 | EHMT1 | c.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) | |
9 | g.137762748A>G | CA467873891 | EHMT1 | c.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=) | |
9 | g.137762748A>T | CA375769229 | EHMT1 | c.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) | |
9 | g.137762749A= | CA1884659576 | EHMT1 | c.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=) | |
9 | g.137762749A>C | CA375769230 | EHMT1 | c.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) | |
9 | g.137762749A>G | CA5374665 | EHMT1 | c.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 |
9 | g.137762749A>T | CA375769231 | EHMT1 | c.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) | |
9 | g.137762750C>A | CA375769232 | EHMT1 | c.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) | |
9 | g.137762750C>G | CA375769236 | EHMT1 | c.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) | |
9 | g.137762750C>T | CA375769246 | EHMT1 | c.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) | |
9 | g.137762751A>C | CA467873892 | EHMT1 | c.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=) | |
9 | g.137762751A>G | CA467873893 | EHMT1 | c.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 |
9 | g.137762751A>T | CA467873894 | EHMT1 | c.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=) | |
9 | g.137762752C>A | CA5374666 | EHMT1 | c.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 |
9 | g.137762752C= | CA1884659577 | EHMT1 | c.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=) | |
9 | g.137762752C>G | CA375769254 | EHMT1 | c.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) | |
9 | g.137762752C>T | CA375769256 | EHMT1 | c.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 |
9 | g.137762753C>A | CA375769260 | EHMT1 | c.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) | |
9 | g.137762753C= | CA1884659578 | EHMT1 | c.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=) | |
9 | g.137762753C>G | CA375769264 | EHMT1 | c.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 |
9 | g.137762753C>T | CA5374667 | EHMT1 | c.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 |
9 | g.137762756_137762763dup | CA2692881776 | EHMT1 | c.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 |
9 | g.137762754G>A | CA5374668 | EHMT1 | c.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 |
9 | g.137762754G>C | CA467873895 | EHMT1 | c.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 |
9 | g.137762754G= | CA1884659579 | EHMT1 | c.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=) | |
9 | g.137762754G>T | CA467873896 | EHMT1 | c.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=) | |
9 | g.137762755A>C | CA375769270 | EHMT1 | c.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) | |
9 | g.137762755A>G | CA375769278 | EHMT1 | c.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) | |
9 | g.137762755A>T | CA375769281 | EHMT1 | c.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) | |
9 | g.137762756A= | CA1884659580 | EHMT1 | c.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=) | |
9 | g.137762756A>C | CA375769283 | EHMT1 | c.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) | |
9 | g.137762756A>G | CA5374669 | EHMT1 | c.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 |
9 | g.137762756A>T | CA375769301 | EHMT1 | c.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) | |
9 | g.137762757G>A | CA467873897 | EHMT1 | c.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 |
9 | g.137762757G>C | CA375769312 | EHMT1 | c.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) | |
9 | g.137762757G= | CA1884659581 | EHMT1 | c.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=) | |
9 | g.137762757G>T | CA375769317 | EHMT1 | c.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) | |
9 | g.137762758del | CA2695211833 | EHMT1 | c.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?) | |
9 | g.137762758A= | CA1884659582 | EHMT1 | c.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=) | |
9 | g.137762758A>C | CA375769321 | EHMT1 | c.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) | |
9 | g.137762758A>G | CA5374670 | EHMT1 | c.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 |
9 | g.137762758A>T | CA375769323 | EHMT1 | c.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) | |
9 | g.137762759G>A | CA375769327 | EHMT1 | c.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) | |
9 | g.137762759G>C | CA375769329 | EHMT1 | c.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) | |
9 | g.137762759G= | CA1884659583 | EHMT1 | c.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=) | |
9 | g.137762759G>T | CA375769335 | EHMT1 | c.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 |
9 | g.137762760T>A | CA375769338 | EHMT1 | c.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) | |
9 | g.137762760T>C | CA467873898 | EHMT1 | c.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=) | |
9 | g.137762760T>G | CA375769342 | EHMT1 | c.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) | |
9 | g.137762761C>A | CA467873899 | EHMT1 | c.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=) | |
9 | g.137762761C= | CA1884659584 | EHMT1 | c.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=) | |
9 | g.137762761C>G | CA375769347 | EHMT1 | c.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) | |
9 | g.137762761C>T | CA375769349 | EHMT1 | c.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 |
9 | g.137762762G>A | CA201792953 | EHMT1 | c.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 |
9 | g.137762762G>C | CA375769357 | EHMT1 | c.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) | |
9 | g.137762762G= | CA1884659585 | EHMT1 | c.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=) | |
9 | g.137762762G>T | CA375769362 | EHMT1 | c.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) | |
9 | g.137762763A= | CA1884659586 | EHMT1 | c.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=) | |
9 | g.137762763A>C | CA467873900 | EHMT1 | c.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=) | |
9 | g.137762763A>G | CA467873901 | EHMT1 | c.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 |
9 | g.137762763A>T | CA467873902 | EHMT1 | c.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=) | |
9 | g.137762763_137762780dup | CA916083098 | EHMT1 | c.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 |
9 | g.137762764G>A | CA375769367 | EHMT1 | c.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) | |
9 | g.137762764G>C | CA375769381 | EHMT1 | c.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) | |
9 | g.137762764G>T | CA375769386 | EHMT1 | c.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) | |
9 | g.137762765A= | CA1884659587 | EHMT1 | c.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=) | |
9 | g.137762765A>C | CA5374671 | EHMT1 | c.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 |
9 | g.137762765A>G | CA375769396 | EHMT1 | c.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 |
9 | g.137762765A>T | CA375769398 | EHMT1 | c.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) | |
9 | g.137762766G>A | CA467873903 | EHMT1 | c.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=) | |
9 | g.137762766G>C | CA375769399 | EHMT1 | c.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) | |
9 | g.137762766G>T | CA375769401 | EHMT1 | c.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) | |
9 | g.137762767A>C | CA375769405 | EHMT1 | c.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) | |
9 | g.137762767A>G | CA375769411 | EHMT1 | c.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 |
9 | g.137762767A>T | CA375769409 | EHMT1 | c.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) | |
9 | g.137762768T>A | CA375769415 | EHMT1 | c.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) | |
9 | g.137762768T>C | CA375769419 | EHMT1 | c.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) | |
9 | g.137762768T>G | CA375769422 | EHMT1 | c.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) | |
9 | g.137762769del | CA2695211834 | EHMT1 | c.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?) | |
9 | g.137762769C>A | CA467873904 | EHMT1 | c.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 |
9 | g.137762769C= | CA1884659588 | EHMT1 | c.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=) | |
9 | g.137762769C>G | CA375769426 | EHMT1 | c.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) | |
9 | g.137762769C>T | CA467873905 | EHMT1 | c.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 |
9 | g.137762769_137762770delinsCA | CA1884659589 | EHMT1 | c.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=) | |
9 | g.137762770del | CA1139661353 | EHMT1 | c.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 |
9 | g.137762770A= | CA1884659590 | EHMT1 | c.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=) | |
9 | g.137762770A>C | CA375769432 | EHMT1 | c.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 |
9 | g.137762770A>G | CA375769436 | EHMT1 | c.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 |
9 | g.137762770A>T | CA375769440 | EHMT1 | c.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) | |
9 | g.137762771C>A | CA375769447 | EHMT1 | c.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) | |
9 | g.137762771C>G | CA375769455 | EHMT1 | c.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) | |
9 | g.137762771C>T | CA375769458 | EHMT1 | c.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) | |
9 | g.137762772C>A | CA467873908 | EHMT1 | c.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=) | |
9 | g.137762772C>G | CA467873907 | EHMT1 | c.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=) | |
9 | g.137762772C>T | CA467873906 | EHMT1 | c.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 |
9 | g.137762773A>C | CA375769464 | EHMT1 | c.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) | |
9 | g.137762773A>G | CA375769467 | EHMT1 | c.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 |
9 | g.137762773A>T | CA375769471 | EHMT1 | c.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) | |
9 | g.137762774C>A | CA375769482 | EHMT1 | c.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) | |
9 | g.137762774C= | CA1884659591 | EHMT1 | c.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=) | |
9 | g.137762774C>G | CA375769475 | EHMT1 | c.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) | |
9 | g.137762774C>T | CA375769479 | EHMT1 | c.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 |
9 | g.137762775A= | CA1884659592 | EHMT1 | c.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=) | |
9 | g.137762775A>C | CA467873909 | EHMT1 | c.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=) | |
9 | g.137762775A>G | CA467873910 | EHMT1 | c.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 |
9 | g.137762775A>T | CA467873911 | EHMT1 | c.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=) | |
9 | g.137762775dup | CA658797393 | EHMT1 | c.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 |
9 | g.137762776C>A | CA375769485 | EHMT1 | c.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) | |
9 | g.137762776C>G | CA375769489 | EHMT1 | c.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 |
9 | g.137762776C>T | CA467873912 | EHMT1 | c.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=) | |
9 | g.137762777T>A | CA375769494 | EHMT1 | c.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 |
9 | g.137762777T>C | CA375769496 | EHMT1 | c.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 |
9 | g.137762777T>G | CA375769500 | EHMT1 | c.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 |
9 | g.137762777T= | CA1884659593 | EHMT1 | c.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=) | |
9 | g.137762778G>A | CA467873913 | EHMT1 | c.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=) | |
9 | g.137762778G>C | CA467873914 | EHMT1 | c.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=) | |
9 | g.137762778G>T | CA467873915 | EHMT1 | c.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=) | |
9 | g.137762779G>A | CA375769503 | EHMT1 | c.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 |
9 | g.137762779G>C | CA375769507 | EHMT1 | c.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) | |
9 | g.137762779G= | CA1884659594 | EHMT1 | c.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=) | |
9 | g.137762779G>T | CA375769510 | EHMT1 | c.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 |
9 | g.137762780C>A | CA375769515 | EHMT1 | c.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) | |
9 | g.137762780C>G | CA375769519 | EHMT1 | c.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) | |
9 | g.137762780C>T | CA375769524 | EHMT1 | c.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) | |
9 | g.137762780_137762804delinsTTGTTGGCCAGTG | CA2580081000 | EHMT1 | c.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 |
9 | g.137762781C>A | CA467873916 | EHMT1 | c.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=) | |
9 | g.137762781C>G | CA467873917 | EHMT1 | c.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=) | |
9 | g.137762781C>T | CA467873918 | EHMT1 | c.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=) | |
9 | g.137762782A>C | CA375769531 | EHMT1 | c.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) | |
9 | g.137762782A>G | CA375769538 | EHMT1 | c.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) | |
9 | g.137762782A>T | CA375769534 | EHMT1 | c.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) | |
9 | g.137762783A= | CA1884659595 | EHMT1 | c.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=) | |
9 | g.137762783A>C | CA375769539 | EHMT1 | c.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) | |
9 | g.137762783A>G | CA375769541 | EHMT1 | c.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 |
9 | g.137762783A>T | CA375769540 | EHMT1 | c.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 |
9 | g.137762784C>A | CA375769542 | EHMT1 | c.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) | |
9 | g.137762784C>G | CA375769544 | EHMT1 | c.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) | |
9 | g.137762784C>T | CA467873919 | EHMT1 | c.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 |
9 | g.137762785A>C | CA375769549 | EHMT1 | c.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) | |
9 | g.137762785A>G | CA375769552 | EHMT1 | c.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 |
9 | g.137762785A>T | CA375769557 | EHMT1 | c.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) | |
9 | g.137762786A= | CA1884659596 | EHMT1 | c.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=) | |
9 | g.137762786A>C | CA375769561 | EHMT1 | c.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) | |
9 | g.137762786A>G | CA375769563 | EHMT1 | c.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 |
9 | g.137762786A>T | CA375769575 | EHMT1 | c.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 |
9 | g.137762787C>A | CA5374672 | EHMT1 | c.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 |
9 | g.137762787C= | CA1884659597 | EHMT1 | c.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=) | |
9 | g.137762787C>G | CA375769578 | EHMT1 | c.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) | |
9 | g.137762787C>T | CA467873920 | EHMT1 | c.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 |
9 | g.137762788C>A | CA375769581 | EHMT1 | c.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) | |
9 | g.137762788C= | CA1884659598 | EHMT1 | c.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=) | |
9 | g.137762788C>G | CA375769584 | EHMT1 | c.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 |
9 | g.137762788C>T | CA375769589 | EHMT1 | c.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) | |
9 | g.137762789A>C | CA375769591 | EHMT1 | c.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) | |
9 | g.137762789A>G | CA375769592 | EHMT1 | c.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) | |
9 | g.137762789A>T | CA375769593 | EHMT1 | c.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) | |
9 | g.137762790G>A | CA5374673 | EHMT1 | c.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 |
9 | g.137762790G>C | CA375769602 | EHMT1 | c.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) | |
9 | g.137762790G= | CA1884659599 | EHMT1 | c.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=) | |
9 | g.137762790G>T | CA375769598 | EHMT1 | c.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 |
9 | g.137762791T>A | CA375769612 | EHMT1 | c.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) | |
9 | g.137762791T>C | CA375769614 | EHMT1 | c.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) | |
9 | g.137762791T>G | CA375769618 | EHMT1 | c.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) | |
9 | g.137762792G>A | CA375769624 | EHMT1 | c.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) | |
9 | g.137762792G>C | CA375769629 | EHMT1 | c.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) | |
9 | g.137762792G= | CA1884659600 | EHMT1 | c.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=) | |
9 | g.137762792G>T | CA375769632 | EHMT1 | c.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 |
9 | g.137762793C>A | CA375769637 | EHMT1 | c.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) | |
9 | g.137762793C>G | CA375769645 | EHMT1 | c.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) | |
9 | g.137762793C>T | CA467873921 | EHMT1 | c.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=) | |
9 | g.137762794A= | CA1884659601 | EHMT1 | c.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=) | |
9 | g.137762794A>C | CA375769649 | EHMT1 | c.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) | |
9 | g.137762794A>G | CA375769653 | EHMT1 | c.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 |
9 | g.137762794A>T | CA375769658 | EHMT1 | c.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) | |
9 | g.137762795T>A | CA375769664 | EHMT1 | c.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) | |
9 | g.137762795T>C | CA375769667 | EHMT1 | c.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) | |
9 | g.137762795T>G | CA375769669 | EHMT1 | c.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) | |
9 | g.137762796G>A | CA375769677 | EHMT1 | c.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) | |
9 | g.137762796G>C | CA375769679 | EHMT1 | c.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) | |
9 | g.137762796G>T | CA375769672 | EHMT1 | c.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) | |
9 | g.137762797G>A | CA375769682 | EHMT1 | c.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) | |
9 | g.137762797G>C | CA375769686 | EHMT1 | c.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) | |
9 | g.137762797G>T | CA375769689 | EHMT1 | c.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) | |
9 | g.137762798C>A | CA375769694 | EHMT1 | c.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) | |
9 | g.137762798C>G | CA375769697 | EHMT1 | c.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 |
9 | g.137762798C>T | CA375769699 | EHMT1 | c.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) | |
9 | g.137762799T>A | CA467873922 | EHMT1 | c.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=) | |
9 | g.137762799T>C | CA467873923 | EHMT1 | c.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 |
9 | g.137762799T>G | CA467873924 | EHMT1 | c.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=) | |
9 | g.137762799T= | CA1884659602 | EHMT1 | c.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=) | |
9 | g.137762800A>C | CA375769700 | EHMT1 | c.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) | |
9 | g.137762800A>G | CA375769701 | EHMT1 | c.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) | |
9 | g.137762800A>T | CA375769702 | EHMT1 | c.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) | |
9 | g.137762801C>A | CA375769703 | EHMT1 | c.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) | |
9 | g.137762801C>G | CA375769705 | EHMT1 | c.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) | |
9 | g.137762801C>T | CA375769707 | EHMT1 | c.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 |
9 | g.137762802A= | CA1884659603 | EHMT1 | c.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=) | |
9 | g.137762802A>C | CA467873925 | EHMT1 | c.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=) | |
9 | g.137762802A>G | CA5374674 | EHMT1 | c.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 |
9 | g.137762802A>T | CA467873926 | EHMT1 | c.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=) | |
9 | g.137762803G>A | CA375769729 | EHMT1 | c.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) | |
9 | g.137762803G>C | CA375769712 | EHMT1 | c.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) | |
9 | g.137762803G>T | CA375769716 | EHMT1 | c.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) | |
9 | g.137762804A>C | CA375769732 | EHMT1 | c.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) | |
9 | g.137762804A>G | CA375769739 | EHMT1 | c.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) | |
9 | g.137762804A>T | CA375769743 | EHMT1 | c.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) | |
9 | g.137762805G>A | CA467873927 | EHMT1 | c.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=) | |
9 | g.137762805G>C | CA375769745 | EHMT1 | c.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) | |
9 | g.137762805G>T | CA375769750 | EHMT1 | c.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) | |
9 | g.137762806A= | CA1884659604 | EHMT1 | c.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=) | |
9 | g.137762806A>C | CA375769756 | EHMT1 | c.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) | |
9 | g.137762806A>G | CA375769761 | EHMT1 | c.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 |
9 | g.137762806A>T | CA375769766 | EHMT1 | c.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) | |
9 | g.137762807G>A | CA375769769 | EHMT1 | c.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 |
9 | g.137762807G>C | CA375769772 | EHMT1 | c.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) | |
9 | g.137762807G>T | CA375769775 | EHMT1 | c.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) | |
9 | g.137762808C>A | CA375769788 | EHMT1 | c.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) | |
9 | g.137762808C= | CA1884659605 | EHMT1 | c.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=) | |
9 | g.137762808C>G | CA375769795 | EHMT1 | c.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) | |
9 | g.137762808C>T | CA5374675 | EHMT1 | c.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 |
9 | g.137762809G>A | CA5374676 | EHMT1 | c.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 |
9 | g.137762809G>C | CA375769799 | EHMT1 | c.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) | |
9 | g.137762809G= | CA1884659606 | EHMT1 | c.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=) | |
9 | g.137762809G>T | CA375769798 | EHMT1 | c.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) | |
9 | g.137762810T>A | CA375769801 | EHMT1 | c.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) | |
9 | g.137762810T>C | CA375769810 | EHMT1 | c.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) | |
9 | g.137762810T>G | CA375769811 | EHMT1 | c.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) | |
9 | g.137762811G>A | CA467873928 | EHMT1 | c.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=) | |
9 | g.137762811G>C | CA467873930 | EHMT1 | c.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=) | |
9 | g.137762811G>T | CA467873929 | EHMT1 | c.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=) | |
9 | g.137762812G>A | CA375769814 | EHMT1 | c.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 |
9 | g.137762812G>C | CA375769815 | EHMT1 | c.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 |
9 | g.137762812G= | CA1884659607 | EHMT1 | c.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=) | |
9 | g.137762812G>T | CA375769816 | EHMT1 | c.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) | |
9 | g.137762813A>C | CA375769817 | EHMT1 | c.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) | |
9 | g.137762813A>G | CA375769818 | EHMT1 | c.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) | |
9 | g.137762813A>T | CA375769821 | EHMT1 | c.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) | |
9 | g.137762814C>A | CA375769823 | EHMT1 | c.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 |
9 | g.137762814C= | CA1884659608 | EHMT1 | c.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=) | |
9 | g.137762814C>G | CA375769824 | EHMT1 | c.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 |
9 | g.137762814C>T | CA467873931 | EHMT1 | c.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=) | |
9 | g.137762815C>A | CA375769829 | EHMT1 | c.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 |
9 | g.137762815C>G | CA375769825 | EHMT1 | c.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) | |
9 | g.137762815C>T | CA375769826 | EHMT1 | c.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 |
9 | g.137762816A>C | CA375769830 | EHMT1 | c.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) | |
9 | g.137762816A>G | CA375769831 | EHMT1 | c.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) | |
9 | g.137762816A>T | CA375769832 | EHMT1 | c.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) | |
9 | g.137762817T>A | CA375769833 | EHMT1 | c.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 |
9 | g.137762817T>C | CA467873932 | EHMT1 | c.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 |
9 | g.137762817T>G | CA375769835 | EHMT1 | c.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) | |
9 | g.137762817T= | CA1884659609 | EHMT1 | c.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=) | |
9 | g.137762818G>A | CA375769846 | EHMT1 | c.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) | |
9 | g.137762818G>C | CA375769848 | EHMT1 | c.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) | |
9 | g.137762818G>T | CA375769849 | EHMT1 | c.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) | |
9 | g.137762819A>C | CA375769853 | EHMT1 | c.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) | |
9 | g.137762819A>G | CA375769855 | EHMT1 | c.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) | |
9 | g.137762819A>T | CA375769859 | EHMT1 | c.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) | |
9 | g.137762820A= | CA1884659610 | EHMT1 | c.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=) | |
9 | g.137762820A>C | CA5374677 | EHMT1 | c.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 |
9 | g.137762820A>G | CA467873933 | EHMT1 | c.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=) | |
9 | g.137762820A>T | CA375769860 | EHMT1 | c.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) | |
9 | g.137762821G>A | CA375769862 | EHMT1 | c.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) | |
9 | g.137762821G>C | CA375769866 | EHMT1 | c.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) | |
9 | g.137762821G>T | CA375769867 | EHMT1 | c.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) | |
9 | g.137762822T>A | CA375769870 | EHMT1 | c.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) | |
9 | g.137762822T>C | CA16043441 | EHMT1 | c.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 |
9 | g.137762822T>G | CA375769877 | EHMT1 | c.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) | |
9 | g.137762822T= | CA1884659611 | EHMT1 | c.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=) | |
9 | g.137762826C= | CA1884659612 | EHMT1 | c.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=) | |
9 | g.137762826C>G | CA1884659613 | EHMT1 | c.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 |
9 | g.137762828C>A | CA1130130217 | EHMT1 | c.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 |
9 | g.137762828C= | CA1884659614 | EHMT1 | c.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=) | |
9 | g.137762828C>T | CA5374678 | EHMT1 | c.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 |
9 | g.137762829G>A | CA5374679 | EHMT1 | c.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 |
9 | g.137762829G>C | CA201793013 | EHMT1 | c.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 |
9 | g.137762829G= | CA1884659615 | EHMT1 | c.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=) | |
9 | g.137762829G>T | CA591241244 | EHMT1 | c.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 |
9 | g.137762831T>G | CA2692881777 | EHMT1 | c.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 |
9 | g.137762832T>C | CA591241246 | EHMT1 | c.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 |
9 | g.137762832T>G | CA5374680 | EHMT1 | c.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 |
9 | g.137762832T= | CA1884659616 | EHMT1 | c.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=) | |
9 | g.137762833G>C | CA5374681 | EHMT1 | c.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 |
9 | g.137762833G= | CA1884659617 | EHMT1 | c.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=) | |
9 | g.137762833G>T | CA2692881778 | EHMT1 | c.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 |
9 | g.137762837dup | CA2579536153 | EHMT1 | c.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) |