Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33736196_33741393delCA1139666016ASXL3c.1085+1781_3042+950del
c.1082+1781_3039+950del
c.*206+1781_*2163+950del
c.*741+1781_*2698+950del
c.1294+1781_3251+950del
c.914+1781_2871+950del
c.962+1781_2919+950del
c.1058+1781_3015+950del
c.1004+1781_2961+950del
c.965+1781_2922+950del
 ClinVar
18g.33736199_33741395delCA915951347ASXL3c.1085+1784_3042+952del
c.1082+1784_3039+952del
c.*206+1784_*2163+952del
c.*741+1784_*2698+952del
c.1294+1784_3251+952del
c.914+1784_2871+952del
c.962+1784_2919+952del
c.1058+1784_3015+952del
c.1004+1784_2961+952del
c.965+1784_2922+952del
18g.33739196C>ACA402176346ASXL3c.1795C>A (p.Pro599Thr)
c.1792C>A (p.Pro598Thr)
c.*916C>A (n.*916C>A)
c.*1451C>A (n.*1451C>A)
c.2004C>A (n.2004C>A)
c.1624C>A (p.Pro542Thr)
c.1672C>A (p.Pro558Thr)
c.1768C>A (p.Pro590Thr)
c.1714C>A (p.Pro572Thr)
c.1675C>A (p.Pro559Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33739196C=CA2294855866ASXL3c.1795C= (p.Pro599=)
c.1792C= (p.Pro598=)
c.*916C= (n.*916C=)
c.*1451C= (n.*1451C=)
c.2004C= (n.2004C=)
c.1624C= (p.Pro542=)
c.1672C= (p.Pro558=)
c.1768C= (p.Pro590=)
c.1714C= (p.Pro572=)
c.1675C= (p.Pro559=)
18g.33739196C>GCA402176347ASXL3c.1795C>G (p.Pro599Ala)
c.1792C>G (p.Pro598Ala)
c.*916C>G (n.*916C>G)
c.*1451C>G (n.*1451C>G)
c.2004C>G (n.2004C>G)
c.1624C>G (p.Pro542Ala)
c.1672C>G (p.Pro558Ala)
c.1768C>G (p.Pro590Ala)
c.1714C>G (p.Pro572Ala)
c.1675C>G (p.Pro559Ala)
 gnomAD v4
18g.33739196C>TCA402176348ASXL3c.1795C>T (p.Pro599Ser)
c.1792C>T (p.Pro598Ser)
c.*916C>T (n.*916C>T)
c.*1451C>T (n.*1451C>T)
c.2004C>T (n.2004C>T)
c.1624C>T (p.Pro542Ser)
c.1672C>T (p.Pro558Ser)
c.1768C>T (p.Pro590Ser)
c.1714C>T (p.Pro572Ser)
c.1675C>T (p.Pro559Ser)
18g.33739197C>ACA402176349ASXL3c.1796C>A (p.Pro599His)
c.1793C>A (p.Pro598His)
c.*917C>A (n.*917C>A)
c.*1452C>A (n.*1452C>A)
c.2005C>A (n.2005C>A)
c.1625C>A (p.Pro542His)
c.1673C>A (p.Pro558His)
c.1769C>A (p.Pro590His)
c.1715C>A (p.Pro572His)
c.1676C>A (p.Pro559His)
18g.33739197C>GCA402176350ASXL3c.1796C>G (p.Pro599Arg)
c.1793C>G (p.Pro598Arg)
c.*917C>G (n.*917C>G)
c.*1452C>G (n.*1452C>G)
c.2005C>G (n.2005C>G)
c.1625C>G (p.Pro542Arg)
c.1673C>G (p.Pro558Arg)
c.1769C>G (p.Pro590Arg)
c.1715C>G (p.Pro572Arg)
c.1676C>G (p.Pro559Arg)
18g.33739197C>TCA402176351ASXL3c.1796C>T (p.Pro599Leu)
c.1793C>T (p.Pro598Leu)
c.*917C>T (n.*917C>T)
c.*1452C>T (n.*1452C>T)
c.2005C>T (n.2005C>T)
c.1625C>T (p.Pro542Leu)
c.1673C>T (p.Pro558Leu)
c.1769C>T (p.Pro590Leu)
c.1715C>T (p.Pro572Leu)
c.1676C>T (p.Pro559Leu)
18g.33739198T>ACA503768735ASXL3c.1797T>A (p.Pro599=)
c.1794T>A (p.Pro598=)
c.*918T>A (n.*918T>A)
c.*1453T>A (n.*1453T>A)
c.2006T>A (n.2006T>A)
c.1626T>A (p.Pro542=)
c.1674T>A (p.Pro558=)
c.1770T>A (p.Pro590=)
c.1716T>A (p.Pro572=)
c.1677T>A (p.Pro559=)
18g.33739198T>CCA503768736ASXL3c.1797T>C (p.Pro599=)
c.1794T>C (p.Pro598=)
c.*918T>C (n.*918T>C)
c.*1453T>C (n.*1453T>C)
c.2006T>C (n.2006T>C)
c.1626T>C (p.Pro542=)
c.1674T>C (p.Pro558=)
c.1770T>C (p.Pro590=)
c.1716T>C (p.Pro572=)
c.1677T>C (p.Pro559=)
 dbSNP gnomAD v3 gnomAD v4
18g.33739198T>GCA503768738ASXL3c.1797T>G (p.Pro599=)
c.1794T>G (p.Pro598=)
c.*918T>G (n.*918T>G)
c.*1453T>G (n.*1453T>G)
c.2006T>G (n.2006T>G)
c.1626T>G (p.Pro542=)
c.1674T>G (p.Pro558=)
c.1770T>G (p.Pro590=)
c.1716T>G (p.Pro572=)
c.1677T>G (p.Pro559=)
18g.33739198T=CA2294855867ASXL3c.1797T= (p.Pro599=)
c.1794T= (p.Pro598=)
c.*918T= (n.*918T=)
c.*1453T= (n.*1453T=)
c.2006T= (n.2006T=)
c.1626T= (p.Pro542=)
c.1674T= (p.Pro558=)
c.1770T= (p.Pro590=)
c.1716T= (p.Pro572=)
c.1677T= (p.Pro559=)
18g.33739199G>ACA402176354ASXL3c.1798G>A (p.Glu600Lys)
c.1795G>A (p.Glu599Lys)
c.*919G>A (n.*919G>A)
c.*1454G>A (n.*1454G>A)
c.2007G>A (n.2007G>A)
c.1627G>A (p.Glu543Lys)
c.1675G>A (p.Glu559Lys)
c.1771G>A (p.Glu591Lys)
c.1717G>A (p.Glu573Lys)
c.1678G>A (p.Glu560Lys)
 COSMIC COSMIC
18g.33739199G>CCA402176352ASXL3c.1798G>C (p.Glu600Gln)
c.1795G>C (p.Glu599Gln)
c.*919G>C (n.*919G>C)
c.*1454G>C (n.*1454G>C)
c.2007G>C (n.2007G>C)
c.1627G>C (p.Glu543Gln)
c.1675G>C (p.Glu559Gln)
c.1771G>C (p.Glu591Gln)
c.1717G>C (p.Glu573Gln)
c.1678G>C (p.Glu560Gln)
18g.33739199G>TCA402176353ASXL3c.1798G>T (p.Glu600Ter)
c.1795G>T (p.Glu599Ter)
c.*919G>T (n.*919G>T)
c.*1454G>T (n.*1454G>T)
c.2007G>T (n.2007G>T)
c.1627G>T (p.Glu543Ter)
c.1675G>T (p.Glu559Ter)
c.1771G>T (p.Glu591Ter)
c.1717G>T (p.Glu573Ter)
c.1678G>T (p.Glu560Ter)
18g.33739200A>CCA402176355ASXL3c.1799A>C (p.Glu600Ala)
c.1796A>C (p.Glu599Ala)
c.*920A>C (n.*920A>C)
c.*1455A>C (n.*1455A>C)
c.2008A>C (n.2008A>C)
c.1628A>C (p.Glu543Ala)
c.1676A>C (p.Glu559Ala)
c.1772A>C (p.Glu591Ala)
c.1718A>C (p.Glu573Ala)
c.1679A>C (p.Glu560Ala)
18g.33739200A>GCA402176356ASXL3c.1799A>G (p.Glu600Gly)
c.1796A>G (p.Glu599Gly)
c.*920A>G (n.*920A>G)
c.*1455A>G (n.*1455A>G)
c.2008A>G (n.2008A>G)
c.1628A>G (p.Glu543Gly)
c.1676A>G (p.Glu559Gly)
c.1772A>G (p.Glu591Gly)
c.1718A>G (p.Glu573Gly)
c.1679A>G (p.Glu560Gly)
18g.33739200A>TCA402176357ASXL3c.1799A>T (p.Glu600Val)
c.1796A>T (p.Glu599Val)
c.*920A>T (n.*920A>T)
c.*1455A>T (n.*1455A>T)
c.2008A>T (n.2008A>T)
c.1628A>T (p.Glu543Val)
c.1676A>T (p.Glu559Val)
c.1772A>T (p.Glu591Val)
c.1718A>T (p.Glu573Val)
c.1679A>T (p.Glu560Val)
18g.33739201A>CCA402176358ASXL3c.1800A>C (p.Glu600Asp)
c.1797A>C (p.Glu599Asp)
c.*921A>C (n.*921A>C)
c.*1456A>C (n.*1456A>C)
c.2009A>C (n.2009A>C)
c.1629A>C (p.Glu543Asp)
c.1677A>C (p.Glu559Asp)
c.1773A>C (p.Glu591Asp)
c.1719A>C (p.Glu573Asp)
c.1680A>C (p.Glu560Asp)
18g.33739201A>GCA503768740ASXL3c.1800A>G (p.Glu600=)
c.1797A>G (p.Glu599=)
c.*921A>G (n.*921A>G)
c.*1456A>G (n.*1456A>G)
c.2009A>G (n.2009A>G)
c.1629A>G (p.Glu543=)
c.1677A>G (p.Glu559=)
c.1773A>G (p.Glu591=)
c.1719A>G (p.Glu573=)
c.1680A>G (p.Glu560=)
18g.33739201A>TCA402176359ASXL3c.1800A>T (p.Glu600Asp)
c.1797A>T (p.Glu599Asp)
c.*921A>T (n.*921A>T)
c.*1456A>T (n.*1456A>T)
c.2009A>T (n.2009A>T)
c.1629A>T (p.Glu543Asp)
c.1677A>T (p.Glu559Asp)
c.1773A>T (p.Glu591Asp)
c.1719A>T (p.Glu573Asp)
c.1680A>T (p.Glu560Asp)
18g.33739202G>ACA297787020ASXL3c.1801G>A (p.Glu601Lys)
c.1798G>A (p.Glu600Lys)
c.*922G>A (n.*922G>A)
c.*1457G>A (n.*1457G>A)
c.2010G>A (n.2010G>A)
c.1630G>A (p.Glu544Lys)
c.1678G>A (p.Glu560Lys)
c.1774G>A (p.Glu592Lys)
c.1720G>A (p.Glu574Lys)
c.1681G>A (p.Glu561Lys)
 dbSNP gnomAD v2 COSMIC COSMIC
18g.33739202G>CCA402176361ASXL3c.1801G>C (p.Glu601Gln)
c.1798G>C (p.Glu600Gln)
c.*922G>C (n.*922G>C)
c.*1457G>C (n.*1457G>C)
c.2010G>C (n.2010G>C)
c.1630G>C (p.Glu544Gln)
c.1678G>C (p.Glu560Gln)
c.1774G>C (p.Glu592Gln)
c.1720G>C (p.Glu574Gln)
c.1681G>C (p.Glu561Gln)
18g.33739202G=CA2294855868ASXL3c.1801G= (p.Glu601=)
c.1798G= (p.Glu600=)
c.*922G= (n.*922G=)
c.*1457G= (n.*1457G=)
c.2010G= (n.2010G=)
c.1630G= (p.Glu544=)
c.1678G= (p.Glu560=)
c.1774G= (p.Glu592=)
c.1720G= (p.Glu574=)
c.1681G= (p.Glu561=)
18g.33739202G>TCA402176360ASXL3c.1801G>T (p.Glu601Ter)
c.1798G>T (p.Glu600Ter)
c.*922G>T (n.*922G>T)
c.*1457G>T (n.*1457G>T)
c.2010G>T (n.2010G>T)
c.1630G>T (p.Glu544Ter)
c.1678G>T (p.Glu560Ter)
c.1774G>T (p.Glu592Ter)
c.1720G>T (p.Glu574Ter)
c.1681G>T (p.Glu561Ter)
18g.33739203A>CCA402176362ASXL3c.1802A>C (p.Glu601Ala)
c.1799A>C (p.Glu600Ala)
c.*923A>C (n.*923A>C)
c.*1458A>C (n.*1458A>C)
c.2011A>C (n.2011A>C)
c.1631A>C (p.Glu544Ala)
c.1679A>C (p.Glu560Ala)
c.1775A>C (p.Glu592Ala)
c.1721A>C (p.Glu574Ala)
c.1682A>C (p.Glu561Ala)
18g.33739203A>GCA402176363ASXL3c.1802A>G (p.Glu601Gly)
c.1799A>G (p.Glu600Gly)
c.*923A>G (n.*923A>G)
c.*1458A>G (n.*1458A>G)
c.2011A>G (n.2011A>G)
c.1631A>G (p.Glu544Gly)
c.1679A>G (p.Glu560Gly)
c.1775A>G (p.Glu592Gly)
c.1721A>G (p.Glu574Gly)
c.1682A>G (p.Glu561Gly)
18g.33739203A>TCA402176364ASXL3c.1802A>T (p.Glu601Val)
c.1799A>T (p.Glu600Val)
c.*923A>T (n.*923A>T)
c.*1458A>T (n.*1458A>T)
c.2011A>T (n.2011A>T)
c.1631A>T (p.Glu544Val)
c.1679A>T (p.Glu560Val)
c.1775A>T (p.Glu592Val)
c.1721A>T (p.Glu574Val)
c.1682A>T (p.Glu561Val)
18g.33739204A>CCA402176365ASXL3c.1803A>C (p.Glu601Asp)
c.1800A>C (p.Glu600Asp)
c.*924A>C (n.*924A>C)
c.*1459A>C (n.*1459A>C)
c.2012A>C (n.2012A>C)
c.1632A>C (p.Glu544Asp)
c.1680A>C (p.Glu560Asp)
c.1776A>C (p.Glu592Asp)
c.1722A>C (p.Glu574Asp)
c.1683A>C (p.Glu561Asp)
18g.33739204A>GCA503768744ASXL3c.1803A>G (p.Glu601=)
c.1800A>G (p.Glu600=)
c.*924A>G (n.*924A>G)
c.*1459A>G (n.*1459A>G)
c.2012A>G (n.2012A>G)
c.1632A>G (p.Glu544=)
c.1680A>G (p.Glu560=)
c.1776A>G (p.Glu592=)
c.1722A>G (p.Glu574=)
c.1683A>G (p.Glu561=)
 COSMIC COSMIC
18g.33739204A>TCA402176366ASXL3c.1803A>T (p.Glu601Asp)
c.1800A>T (p.Glu600Asp)
c.*924A>T (n.*924A>T)
c.*1459A>T (n.*1459A>T)
c.2012A>T (n.2012A>T)
c.1632A>T (p.Glu544Asp)
c.1680A>T (p.Glu560Asp)
c.1776A>T (p.Glu592Asp)
c.1722A>T (p.Glu574Asp)
c.1683A>T (p.Glu561Asp)
18g.33739205C>ACA402176367ASXL3c.1804C>A (p.Gln602Lys)
c.1801C>A (p.Gln601Lys)
c.*925C>A (n.*925C>A)
c.*1460C>A (n.*1460C>A)
c.2013C>A (n.2013C>A)
c.1633C>A (p.Gln545Lys)
c.1681C>A (p.Gln561Lys)
c.1777C>A (p.Gln593Lys)
c.1723C>A (p.Gln575Lys)
c.1684C>A (p.Gln562Lys)
18g.33739205C=CA2294855869ASXL3c.1804C= (p.Gln602=)
c.1801C= (p.Gln601=)
c.*925C= (n.*925C=)
c.*1460C= (n.*1460C=)
c.2013C= (n.2013C=)
c.1633C= (p.Gln545=)
c.1681C= (p.Gln561=)
c.1777C= (p.Gln593=)
c.1723C= (p.Gln575=)
c.1684C= (p.Gln562=)
18g.33739205C>GCA402176368ASXL3c.1804C>G (p.Gln602Glu)
c.1801C>G (p.Gln601Glu)
c.*925C>G (n.*925C>G)
c.*1460C>G (n.*1460C>G)
c.2013C>G (n.2013C>G)
c.1633C>G (p.Gln545Glu)
c.1681C>G (p.Gln561Glu)
c.1777C>G (p.Gln593Glu)
c.1723C>G (p.Gln575Glu)
c.1684C>G (p.Gln562Glu)
 gnomAD v4
18g.33739205C>TCA402176369ASXL3c.1804C>T (p.Gln602Ter)
c.1801C>T (p.Gln601Ter)
c.*925C>T (n.*925C>T)
c.*1460C>T (n.*1460C>T)
c.2013C>T (n.2013C>T)
c.1633C>T (p.Gln545Ter)
c.1681C>T (p.Gln561Ter)
c.1777C>T (p.Gln593Ter)
c.1723C>T (p.Gln575Ter)
c.1684C>T (p.Gln562Ter)
 ClinVar dbSNP gnomAD v4
18g.33739206A>CCA402176370ASXL3c.1805A>C (p.Gln602Pro)
c.1802A>C (p.Gln601Pro)
c.*926A>C (n.*926A>C)
c.*1461A>C (n.*1461A>C)
c.2014A>C (n.2014A>C)
c.1634A>C (p.Gln545Pro)
c.1682A>C (p.Gln561Pro)
c.1778A>C (p.Gln593Pro)
c.1724A>C (p.Gln575Pro)
c.1685A>C (p.Gln562Pro)
18g.33739206A>GCA402176371ASXL3c.1805A>G (p.Gln602Arg)
c.1802A>G (p.Gln601Arg)
c.*926A>G (n.*926A>G)
c.*1461A>G (n.*1461A>G)
c.2014A>G (n.2014A>G)
c.1634A>G (p.Gln545Arg)
c.1682A>G (p.Gln561Arg)
c.1778A>G (p.Gln593Arg)
c.1724A>G (p.Gln575Arg)
c.1685A>G (p.Gln562Arg)
18g.33739206A>TCA402176372ASXL3c.1805A>T (p.Gln602Leu)
c.1802A>T (p.Gln601Leu)
c.*926A>T (n.*926A>T)
c.*1461A>T (n.*1461A>T)
c.2014A>T (n.2014A>T)
c.1634A>T (p.Gln545Leu)
c.1682A>T (p.Gln561Leu)
c.1778A>T (p.Gln593Leu)
c.1724A>T (p.Gln575Leu)
c.1685A>T (p.Gln562Leu)
18g.33739206dupCA1139666022ASXL3c.1805dup (p.Leu603AlafsTer9)
c.1802dup (p.Leu602AlafsTer9)
c.*926dup (n.*926dup)
c.*1461dup (n.*1461dup)
c.2014dup (n.2014dup)
c.1634dup (p.Leu546AlafsTer9)
c.1682dup (p.Leu562AlafsTer9)
c.1778dup (p.Leu594AlafsTer9)
c.1724dup (p.Leu576AlafsTer9)
c.1685dup (p.Leu563AlafsTer9)
 ClinVar dbSNP
18g.33739207G>ACA503768750ASXL3c.1806G>A (p.Gln602=)
c.1803G>A (p.Gln601=)
c.*927G>A (n.*927G>A)
c.*1462G>A (n.*1462G>A)
c.2015G>A (n.2015G>A)
c.1635G>A (p.Gln545=)
c.1683G>A (p.Gln561=)
c.1779G>A (p.Gln593=)
c.1725G>A (p.Gln575=)
c.1686G>A (p.Gln562=)
18g.33739207G>CCA402176373ASXL3c.1806G>C (p.Gln602His)
c.1803G>C (p.Gln601His)
c.*927G>C (n.*927G>C)
c.*1462G>C (n.*1462G>C)
c.2015G>C (n.2015G>C)
c.1635G>C (p.Gln545His)
c.1683G>C (p.Gln561His)
c.1779G>C (p.Gln593His)
c.1725G>C (p.Gln575His)
c.1686G>C (p.Gln562His)
18g.33739207G>TCA402176374ASXL3c.1806G>T (p.Gln602His)
c.1803G>T (p.Gln601His)
c.*927G>T (n.*927G>T)
c.*1462G>T (n.*1462G>T)
c.2015G>T (n.2015G>T)
c.1635G>T (p.Gln545His)
c.1683G>T (p.Gln561His)
c.1779G>T (p.Gln593His)
c.1725G>T (p.Gln575His)
c.1686G>T (p.Gln562His)
 COSMIC COSMIC
18g.33739208C>ACA402176375ASXL3c.1807C>A (p.Leu603Ile)
c.1804C>A (p.Leu602Ile)
c.*928C>A (n.*928C>A)
c.*1463C>A (n.*1463C>A)
c.2016C>A (n.2016C>A)
c.1636C>A (p.Leu546Ile)
c.1684C>A (p.Leu562Ile)
c.1780C>A (p.Leu594Ile)
c.1726C>A (p.Leu576Ile)
c.1687C>A (p.Leu563Ile)
18g.33739208C>GCA402176377ASXL3c.1807C>G (p.Leu603Val)
c.1804C>G (p.Leu602Val)
c.*928C>G (n.*928C>G)
c.*1463C>G (n.*1463C>G)
c.2016C>G (n.2016C>G)
c.1636C>G (p.Leu546Val)
c.1684C>G (p.Leu562Val)
c.1780C>G (p.Leu594Val)
c.1726C>G (p.Leu576Val)
c.1687C>G (p.Leu563Val)
18g.33739208C>TCA402176376ASXL3c.1807C>T (p.Leu603Phe)
c.1804C>T (p.Leu602Phe)
c.*928C>T (n.*928C>T)
c.*1463C>T (n.*1463C>T)
c.2016C>T (n.2016C>T)
c.1636C>T (p.Leu546Phe)
c.1684C>T (p.Leu562Phe)
c.1780C>T (p.Leu594Phe)
c.1726C>T (p.Leu576Phe)
c.1687C>T (p.Leu563Phe)
 gnomAD v4
18g.33739209T>ACA402176378ASXL3c.1808T>A (p.Leu603His)
c.1805T>A (p.Leu602His)
c.*929T>A (n.*929T>A)
c.*1464T>A (n.*1464T>A)
c.2017T>A (n.2017T>A)
c.1637T>A (p.Leu546His)
c.1685T>A (p.Leu562His)
c.1781T>A (p.Leu594His)
c.1727T>A (p.Leu576His)
c.1688T>A (p.Leu563His)
18g.33739209T>CCA402176379ASXL3c.1808T>C (p.Leu603Pro)
c.1805T>C (p.Leu602Pro)
c.*929T>C (n.*929T>C)
c.*1464T>C (n.*1464T>C)
c.2017T>C (n.2017T>C)
c.1637T>C (p.Leu546Pro)
c.1685T>C (p.Leu562Pro)
c.1781T>C (p.Leu594Pro)
c.1727T>C (p.Leu576Pro)
c.1688T>C (p.Leu563Pro)
 dbSNP gnomAD v3 gnomAD v4
18g.33739209T>GCA402176380ASXL3c.1808T>G (p.Leu603Arg)
c.1805T>G (p.Leu602Arg)
c.*929T>G (n.*929T>G)
c.*1464T>G (n.*1464T>G)
c.2017T>G (n.2017T>G)
c.1637T>G (p.Leu546Arg)
c.1685T>G (p.Leu562Arg)
c.1781T>G (p.Leu594Arg)
c.1727T>G (p.Leu576Arg)
c.1688T>G (p.Leu563Arg)
18g.33739209T=CA2294855870ASXL3c.1808T= (p.Leu603=)
c.1805T= (p.Leu602=)
c.*929T= (n.*929T=)
c.*1464T= (n.*1464T=)
c.2017T= (n.2017T=)
c.1637T= (p.Leu546=)
c.1685T= (p.Leu562=)
c.1781T= (p.Leu594=)
c.1727T= (p.Leu576=)
c.1688T= (p.Leu563=)
18g.33739210T>ACA503768755ASXL3c.1809T>A (p.Leu603=)
c.1806T>A (p.Leu602=)
c.*930T>A (n.*930T>A)
c.*1465T>A (n.*1465T>A)
c.2018T>A (n.2018T>A)
c.1638T>A (p.Leu546=)
c.1686T>A (p.Leu562=)
c.1782T>A (p.Leu594=)
c.1728T>A (p.Leu576=)
c.1689T>A (p.Leu563=)
18g.33739210T>CCA503768756ASXL3c.1809T>C (p.Leu603=)
c.1806T>C (p.Leu602=)
c.*930T>C (n.*930T>C)
c.*1465T>C (n.*1465T>C)
c.2018T>C (n.2018T>C)
c.1638T>C (p.Leu546=)
c.1686T>C (p.Leu562=)
c.1782T>C (p.Leu594=)
c.1728T>C (p.Leu576=)
c.1689T>C (p.Leu563=)
18g.33739210T>GCA503768758ASXL3c.1809T>G (p.Leu603=)
c.1806T>G (p.Leu602=)
c.*930T>G (n.*930T>G)
c.*1465T>G (n.*1465T>G)
c.2018T>G (n.2018T>G)
c.1638T>G (p.Leu546=)
c.1686T>G (p.Leu562=)
c.1782T>G (p.Leu594=)
c.1728T>G (p.Leu576=)
c.1689T>G (p.Leu563=)
 gnomAD v4
18g.33739211T>ACA402176381ASXL3c.1810T>A (p.Ser604Thr)
c.1807T>A (p.Ser603Thr)
c.*931T>A (n.*931T>A)
c.*1466T>A (n.*1466T>A)
c.2019T>A (n.2019T>A)
c.1639T>A (p.Ser547Thr)
c.1687T>A (p.Ser563Thr)
c.1783T>A (p.Ser595Thr)
c.1729T>A (p.Ser577Thr)
c.1690T>A (p.Ser564Thr)
 dbSNP gnomAD v4
18g.33739211T>CCA402176382ASXL3c.1810T>C (p.Ser604Pro)
c.1807T>C (p.Ser603Pro)
c.*931T>C (n.*931T>C)
c.*1466T>C (n.*1466T>C)
c.2019T>C (n.2019T>C)
c.1639T>C (p.Ser547Pro)
c.1687T>C (p.Ser563Pro)
c.1783T>C (p.Ser595Pro)
c.1729T>C (p.Ser577Pro)
c.1690T>C (p.Ser564Pro)
18g.33739211T>GCA8933814ASXL3c.1810T>G (p.Ser604Ala)
c.1807T>G (p.Ser603Ala)
c.*931T>G (n.*931T>G)
c.*1466T>G (n.*1466T>G)
c.2019T>G (n.2019T>G)
c.1639T>G (p.Ser547Ala)
c.1687T>G (p.Ser563Ala)
c.1783T>G (p.Ser595Ala)
c.1729T>G (p.Ser577Ala)
c.1690T>G (p.Ser564Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739211T=CA2294855871ASXL3c.1810T= (p.Ser604=)
c.1807T= (p.Ser603=)
c.*931T= (n.*931T=)
c.*1466T= (n.*1466T=)
c.2019T= (n.2019T=)
c.1639T= (p.Ser547=)
c.1687T= (p.Ser563=)
c.1783T= (p.Ser595=)
c.1729T= (p.Ser577=)
c.1690T= (p.Ser564=)
18g.33739212C>ACA402176383ASXL3c.1811C>A (p.Ser604Ter)
c.1808C>A (p.Ser603Ter)
c.*932C>A (n.*932C>A)
c.*1467C>A (n.*1467C>A)
c.2020C>A (n.2020C>A)
c.1640C>A (p.Ser547Ter)
c.1688C>A (p.Ser563Ter)
c.1784C>A (p.Ser595Ter)
c.1730C>A (p.Ser577Ter)
c.1691C>A (p.Ser564Ter)
 dbSNP gnomAD v4
18g.33739212C=CA2294855872ASXL3c.1811C= (p.Ser604=)
c.1808C= (p.Ser603=)
c.*932C= (n.*932C=)
c.*1467C= (n.*1467C=)
c.2020C= (n.2020C=)
c.1640C= (p.Ser547=)
c.1688C= (p.Ser563=)
c.1784C= (p.Ser595=)
c.1730C= (p.Ser577=)
c.1691C= (p.Ser564=)
18g.33739212C>GCA402176384ASXL3c.1811C>G (p.Ser604Ter)
c.1808C>G (p.Ser603Ter)
c.*932C>G (n.*932C>G)
c.*1467C>G (n.*1467C>G)
c.2020C>G (n.2020C>G)
c.1640C>G (p.Ser547Ter)
c.1688C>G (p.Ser563Ter)
c.1784C>G (p.Ser595Ter)
c.1730C>G (p.Ser577Ter)
c.1691C>G (p.Ser564Ter)
 ClinVar dbSNP
18g.33739212C>TCA8933815ASXL3c.1811C>T (p.Ser604Leu)
c.1808C>T (p.Ser603Leu)
c.*932C>T (n.*932C>T)
c.*1467C>T (n.*1467C>T)
c.2020C>T (n.2020C>T)
c.1640C>T (p.Ser547Leu)
c.1688C>T (p.Ser563Leu)
c.1784C>T (p.Ser595Leu)
c.1730C>T (p.Ser577Leu)
c.1691C>T (p.Ser564Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739213A>CCA503768761ASXL3c.1812A>C (p.Ser604=)
c.1809A>C (p.Ser603=)
c.*933A>C (n.*933A>C)
c.*1468A>C (n.*1468A>C)
c.2021A>C (n.2021A>C)
c.1641A>C (p.Ser547=)
c.1689A>C (p.Ser563=)
c.1785A>C (p.Ser595=)
c.1731A>C (p.Ser577=)
c.1692A>C (p.Ser564=)
18g.33739213A>GCA503768765ASXL3c.1812A>G (p.Ser604=)
c.1809A>G (p.Ser603=)
c.*933A>G (n.*933A>G)
c.*1468A>G (n.*1468A>G)
c.2021A>G (n.2021A>G)
c.1641A>G (p.Ser547=)
c.1689A>G (p.Ser563=)
c.1785A>G (p.Ser595=)
c.1731A>G (p.Ser577=)
c.1692A>G (p.Ser564=)
18g.33739213A>TCA503768763ASXL3c.1812A>T (p.Ser604=)
c.1809A>T (p.Ser603=)
c.*933A>T (n.*933A>T)
c.*1468A>T (n.*1468A>T)
c.2021A>T (n.2021A>T)
c.1641A>T (p.Ser547=)
c.1689A>T (p.Ser563=)
c.1785A>T (p.Ser595=)
c.1731A>T (p.Ser577=)
c.1692A>T (p.Ser564=)
 COSMIC COSMIC
18g.33739214G>ACA402176385ASXL3c.1813G>A (p.Glu605Lys)
c.1810G>A (p.Glu604Lys)
c.*934G>A (n.*934G>A)
c.*1469G>A (n.*1469G>A)
c.2022G>A (n.2022G>A)
c.1642G>A (p.Glu548Lys)
c.1690G>A (p.Glu564Lys)
c.1786G>A (p.Glu596Lys)
c.1732G>A (p.Glu578Lys)
c.1693G>A (p.Glu565Lys)
18g.33739214G>CCA402176386ASXL3c.1813G>C (p.Glu605Gln)
c.1810G>C (p.Glu604Gln)
c.*934G>C (n.*934G>C)
c.*1469G>C (n.*1469G>C)
c.2022G>C (n.2022G>C)
c.1642G>C (p.Glu548Gln)
c.1690G>C (p.Glu564Gln)
c.1786G>C (p.Glu596Gln)
c.1732G>C (p.Glu578Gln)
c.1693G>C (p.Glu565Gln)
18g.33739214G>TCA402176387ASXL3c.1813G>T (p.Glu605Ter)
c.1810G>T (p.Glu604Ter)
c.*934G>T (n.*934G>T)
c.*1469G>T (n.*1469G>T)
c.2022G>T (n.2022G>T)
c.1642G>T (p.Glu548Ter)
c.1690G>T (p.Glu564Ter)
c.1786G>T (p.Glu596Ter)
c.1732G>T (p.Glu578Ter)
c.1693G>T (p.Glu565Ter)
18g.33739215A>CCA402176388ASXL3c.1814A>C (p.Glu605Ala)
c.1811A>C (p.Glu604Ala)
c.*935A>C (n.*935A>C)
c.*1470A>C (n.*1470A>C)
c.2023A>C (n.2023A>C)
c.1643A>C (p.Glu548Ala)
c.1691A>C (p.Glu564Ala)
c.1787A>C (p.Glu596Ala)
c.1733A>C (p.Glu578Ala)
c.1694A>C (p.Glu565Ala)
18g.33739215A>GCA402176390ASXL3c.1814A>G (p.Glu605Gly)
c.1811A>G (p.Glu604Gly)
c.*935A>G (n.*935A>G)
c.*1470A>G (n.*1470A>G)
c.2023A>G (n.2023A>G)
c.1643A>G (p.Glu548Gly)
c.1691A>G (p.Glu564Gly)
c.1787A>G (p.Glu596Gly)
c.1733A>G (p.Glu578Gly)
c.1694A>G (p.Glu565Gly)
 gnomAD v4
18g.33739215A>TCA402176389ASXL3c.1814A>T (p.Glu605Val)
c.1811A>T (p.Glu604Val)
c.*935A>T (n.*935A>T)
c.*1470A>T (n.*1470A>T)
c.2023A>T (n.2023A>T)
c.1643A>T (p.Glu548Val)
c.1691A>T (p.Glu564Val)
c.1787A>T (p.Glu596Val)
c.1733A>T (p.Glu578Val)
c.1694A>T (p.Glu565Val)
18g.33739216A>CCA402176391ASXL3c.1815A>C (p.Glu605Asp)
c.1812A>C (p.Glu604Asp)
c.*936A>C (n.*936A>C)
c.*1471A>C (n.*1471A>C)
c.2024A>C (n.2024A>C)
c.1644A>C (p.Glu548Asp)
c.1692A>C (p.Glu564Asp)
c.1788A>C (p.Glu596Asp)
c.1734A>C (p.Glu578Asp)
c.1695A>C (p.Glu565Asp)
18g.33739216A>GCA503768769ASXL3c.1815A>G (p.Glu605=)
c.1812A>G (p.Glu604=)
c.*936A>G (n.*936A>G)
c.*1471A>G (n.*1471A>G)
c.2024A>G (n.2024A>G)
c.1644A>G (p.Glu548=)
c.1692A>G (p.Glu564=)
c.1788A>G (p.Glu596=)
c.1734A>G (p.Glu578=)
c.1695A>G (p.Glu565=)
18g.33739216A>TCA402176392ASXL3c.1815A>T (p.Glu605Asp)
c.1812A>T (p.Glu604Asp)
c.*936A>T (n.*936A>T)
c.*1471A>T (n.*1471A>T)
c.2024A>T (n.2024A>T)
c.1644A>T (p.Glu548Asp)
c.1692A>T (p.Glu564Asp)
c.1788A>T (p.Glu596Asp)
c.1734A>T (p.Glu578Asp)
c.1695A>T (p.Glu565Asp)
18g.33739217A>CCA402176393ASXL3c.1816A>C (p.Asn606His)
c.1813A>C (p.Asn605His)
c.*937A>C (n.*937A>C)
c.*1472A>C (n.*1472A>C)
c.2025A>C (n.2025A>C)
c.1645A>C (p.Asn549His)
c.1693A>C (p.Asn565His)
c.1789A>C (p.Asn597His)
c.1735A>C (p.Asn579His)
c.1696A>C (p.Asn566His)
18g.33739217A>GCA402176394ASXL3c.1816A>G (p.Asn606Asp)
c.1813A>G (p.Asn605Asp)
c.*937A>G (n.*937A>G)
c.*1472A>G (n.*1472A>G)
c.2025A>G (n.2025A>G)
c.1645A>G (p.Asn549Asp)
c.1693A>G (p.Asn565Asp)
c.1789A>G (p.Asn597Asp)
c.1735A>G (p.Asn579Asp)
c.1696A>G (p.Asn566Asp)
18g.33739217A>TCA402176395ASXL3c.1816A>T (p.Asn606Tyr)
c.1813A>T (p.Asn605Tyr)
c.*937A>T (n.*937A>T)
c.*1472A>T (n.*1472A>T)
c.2025A>T (n.2025A>T)
c.1645A>T (p.Asn549Tyr)
c.1693A>T (p.Asn565Tyr)
c.1789A>T (p.Asn597Tyr)
c.1735A>T (p.Asn579Tyr)
c.1696A>T (p.Asn566Tyr)
18g.33739218A=CA2294855873ASXL3c.1817A= (p.Asn606=)
c.1814A= (p.Asn605=)
c.*938A= (n.*938A=)
c.*1473A= (n.*1473A=)
c.2026A= (n.2026A=)
c.1646A= (p.Asn549=)
c.1694A= (p.Asn565=)
c.1790A= (p.Asn597=)
c.1736A= (p.Asn579=)
c.1697A= (p.Asn566=)
18g.33739218A>CCA402176396ASXL3c.1817A>C (p.Asn606Thr)
c.1814A>C (p.Asn605Thr)
c.*938A>C (n.*938A>C)
c.*1473A>C (n.*1473A>C)
c.2026A>C (n.2026A>C)
c.1646A>C (p.Asn549Thr)
c.1694A>C (p.Asn565Thr)
c.1790A>C (p.Asn597Thr)
c.1736A>C (p.Asn579Thr)
c.1697A>C (p.Asn566Thr)
18g.33739218A>GCA402176397ASXL3c.1817A>G (p.Asn606Ser)
c.1814A>G (p.Asn605Ser)
c.*938A>G (n.*938A>G)
c.*1473A>G (n.*1473A>G)
c.2026A>G (n.2026A>G)
c.1646A>G (p.Asn549Ser)
c.1694A>G (p.Asn565Ser)
c.1790A>G (p.Asn597Ser)
c.1736A>G (p.Asn579Ser)
c.1697A>G (p.Asn566Ser)
 dbSNP
18g.33739218A>TCA402176398ASXL3c.1817A>T (p.Asn606Ile)
c.1814A>T (p.Asn605Ile)
c.*938A>T (n.*938A>T)
c.*1473A>T (n.*1473A>T)
c.2026A>T (n.2026A>T)
c.1646A>T (p.Asn549Ile)
c.1694A>T (p.Asn565Ile)
c.1790A>T (p.Asn597Ile)
c.1736A>T (p.Asn579Ile)
c.1697A>T (p.Asn566Ile)
 gnomAD v4
18g.33739219T>ACA402176399ASXL3c.1818T>A (p.Asn606Lys)
c.1815T>A (p.Asn605Lys)
c.*939T>A (n.*939T>A)
c.*1474T>A (n.*1474T>A)
c.2027T>A (n.2027T>A)
c.1647T>A (p.Asn549Lys)
c.1695T>A (p.Asn565Lys)
c.1791T>A (p.Asn597Lys)
c.1737T>A (p.Asn579Lys)
c.1698T>A (p.Asn566Lys)
18g.33739219T>CCA503768774ASXL3c.1818T>C (p.Asn606=)
c.1815T>C (p.Asn605=)
c.*939T>C (n.*939T>C)
c.*1474T>C (n.*1474T>C)
c.2027T>C (n.2027T>C)
c.1647T>C (p.Asn549=)
c.1695T>C (p.Asn565=)
c.1791T>C (p.Asn597=)
c.1737T>C (p.Asn579=)
c.1698T>C (p.Asn566=)
18g.33739219T>GCA402176400ASXL3c.1818T>G (p.Asn606Lys)
c.1815T>G (p.Asn605Lys)
c.*939T>G (n.*939T>G)
c.*1474T>G (n.*1474T>G)
c.2027T>G (n.2027T>G)
c.1647T>G (p.Asn549Lys)
c.1695T>G (p.Asn565Lys)
c.1791T>G (p.Asn597Lys)
c.1737T>G (p.Asn579Lys)
c.1698T>G (p.Asn566Lys)
18g.33739220G>ACA402176401ASXL3c.1819G>A (p.Ala607Thr)
c.1816G>A (p.Ala606Thr)
c.*940G>A (n.*940G>A)
c.*1475G>A (n.*1475G>A)
c.2028G>A (n.2028G>A)
c.1648G>A (p.Ala550Thr)
c.1696G>A (p.Ala566Thr)
c.1792G>A (p.Ala598Thr)
c.1738G>A (p.Ala580Thr)
c.1699G>A (p.Ala567Thr)
18g.33739220G>CCA402176402ASXL3c.1819G>C (p.Ala607Pro)
c.1816G>C (p.Ala606Pro)
c.*940G>C (n.*940G>C)
c.*1475G>C (n.*1475G>C)
c.2028G>C (n.2028G>C)
c.1648G>C (p.Ala550Pro)
c.1696G>C (p.Ala566Pro)
c.1792G>C (p.Ala598Pro)
c.1738G>C (p.Ala580Pro)
c.1699G>C (p.Ala567Pro)
 gnomAD v4
18g.33739220G=CA2294855874ASXL3c.1819G= (p.Ala607=)
c.1816G= (p.Ala606=)
c.*940G= (n.*940G=)
c.*1475G= (n.*1475G=)
c.2028G= (n.2028G=)
c.1648G= (p.Ala550=)
c.1696G= (p.Ala566=)
c.1792G= (p.Ala598=)
c.1738G= (p.Ala580=)
c.1699G= (p.Ala567=)
18g.33739220G>TCA8933816ASXL3c.1819G>T (p.Ala607Ser)
c.1816G>T (p.Ala606Ser)
c.*940G>T (n.*940G>T)
c.*1475G>T (n.*1475G>T)
c.2028G>T (n.2028G>T)
c.1648G>T (p.Ala550Ser)
c.1696G>T (p.Ala566Ser)
c.1792G>T (p.Ala598Ser)
c.1738G>T (p.Ala580Ser)
c.1699G>T (p.Ala567Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739221C>ACA402176403ASXL3c.1820C>A (p.Ala607Asp)
c.1817C>A (p.Ala606Asp)
c.*941C>A (n.*941C>A)
c.*1476C>A (n.*1476C>A)
c.2029C>A (n.2029C>A)
c.1649C>A (p.Ala550Asp)
c.1697C>A (p.Ala566Asp)
c.1793C>A (p.Ala598Asp)
c.1739C>A (p.Ala580Asp)
c.1700C>A (p.Ala567Asp)
18g.33739221C>GCA402176404ASXL3c.1820C>G (p.Ala607Gly)
c.1817C>G (p.Ala606Gly)
c.*941C>G (n.*941C>G)
c.*1476C>G (n.*1476C>G)
c.2029C>G (n.2029C>G)
c.1649C>G (p.Ala550Gly)
c.1697C>G (p.Ala566Gly)
c.1793C>G (p.Ala598Gly)
c.1739C>G (p.Ala580Gly)
c.1700C>G (p.Ala567Gly)
18g.33739221C>TCA402176405ASXL3c.1820C>T (p.Ala607Val)
c.1817C>T (p.Ala606Val)
c.*941C>T (n.*941C>T)
c.*1476C>T (n.*1476C>T)
c.2029C>T (n.2029C>T)
c.1649C>T (p.Ala550Val)
c.1697C>T (p.Ala566Val)
c.1793C>T (p.Ala598Val)
c.1739C>T (p.Ala580Val)
c.1700C>T (p.Ala567Val)
 gnomAD v4
18g.33739222C>ACA503768777ASXL3c.1821C>A (p.Ala607=)
c.1818C>A (p.Ala606=)
c.*942C>A (n.*942C>A)
c.*1477C>A (n.*1477C>A)
c.2030C>A (n.2030C>A)
c.1650C>A (p.Ala550=)
c.1698C>A (p.Ala566=)
c.1794C>A (p.Ala598=)
c.1740C>A (p.Ala580=)
c.1701C>A (p.Ala567=)
 gnomAD v4
18g.33739222C>GCA503768779ASXL3c.1821C>G (p.Ala607=)
c.1818C>G (p.Ala606=)
c.*942C>G (n.*942C>G)
c.*1477C>G (n.*1477C>G)
c.2030C>G (n.2030C>G)
c.1650C>G (p.Ala550=)
c.1698C>G (p.Ala566=)
c.1794C>G (p.Ala598=)
c.1740C>G (p.Ala580=)
c.1701C>G (p.Ala567=)
18g.33739222C>TCA503768781ASXL3c.1821C>T (p.Ala607=)
c.1818C>T (p.Ala606=)
c.*942C>T (n.*942C>T)
c.*1477C>T (n.*1477C>T)
c.2030C>T (n.2030C>T)
c.1650C>T (p.Ala550=)
c.1698C>T (p.Ala566=)
c.1794C>T (p.Ala598=)
c.1740C>T (p.Ala580=)
c.1701C>T (p.Ala567=)
18g.33739223T>ACA402176406ASXL3c.1822T>A (p.Cys608Ser)
c.1819T>A (p.Cys607Ser)
c.*943T>A (n.*943T>A)
c.*1478T>A (n.*1478T>A)
c.2031T>A (n.2031T>A)
c.1651T>A (p.Cys551Ser)
c.1699T>A (p.Cys567Ser)
c.1795T>A (p.Cys599Ser)
c.1741T>A (p.Cys581Ser)
c.1702T>A (p.Cys568Ser)
18g.33739223T>CCA402176407ASXL3c.1822T>C (p.Cys608Arg)
c.1819T>C (p.Cys607Arg)
c.*943T>C (n.*943T>C)
c.*1478T>C (n.*1478T>C)
c.2031T>C (n.2031T>C)
c.1651T>C (p.Cys551Arg)
c.1699T>C (p.Cys567Arg)
c.1795T>C (p.Cys599Arg)
c.1741T>C (p.Cys581Arg)
c.1702T>C (p.Cys568Arg)
18g.33739223T>GCA8933817ASXL3c.1822T>G (p.Cys608Gly)
c.1819T>G (p.Cys607Gly)
c.*943T>G (n.*943T>G)
c.*1478T>G (n.*1478T>G)
c.2031T>G (n.2031T>G)
c.1651T>G (p.Cys551Gly)
c.1699T>G (p.Cys567Gly)
c.1795T>G (p.Cys599Gly)
c.1741T>G (p.Cys581Gly)
c.1702T>G (p.Cys568Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739223T=CA2294855875ASXL3c.1822T= (p.Cys608=)
c.1819T= (p.Cys607=)
c.*943T= (n.*943T=)
c.*1478T= (n.*1478T=)
c.2031T= (n.2031T=)
c.1651T= (p.Cys551=)
c.1699T= (p.Cys567=)
c.1795T= (p.Cys599=)
c.1741T= (p.Cys581=)
c.1702T= (p.Cys568=)
18g.33739224G>ACA402176410ASXL3c.1823G>A (p.Cys608Tyr)
c.1820G>A (p.Cys607Tyr)
c.*944G>A (n.*944G>A)
c.*1479G>A (n.*1479G>A)
c.2032G>A (n.2032G>A)
c.1652G>A (p.Cys551Tyr)
c.1700G>A (p.Cys567Tyr)
c.1796G>A (p.Cys599Tyr)
c.1742G>A (p.Cys581Tyr)
c.1703G>A (p.Cys568Tyr)
18g.33739224G>CCA402176408ASXL3c.1823G>C (p.Cys608Ser)
c.1820G>C (p.Cys607Ser)
c.*944G>C (n.*944G>C)
c.*1479G>C (n.*1479G>C)
c.2032G>C (n.2032G>C)
c.1652G>C (p.Cys551Ser)
c.1700G>C (p.Cys567Ser)
c.1796G>C (p.Cys599Ser)
c.1742G>C (p.Cys581Ser)
c.1703G>C (p.Cys568Ser)
 gnomAD v3 gnomAD v4
18g.33739224G>TCA402176409ASXL3c.1823G>T (p.Cys608Phe)
c.1820G>T (p.Cys607Phe)
c.*944G>T (n.*944G>T)
c.*1479G>T (n.*1479G>T)
c.2032G>T (n.2032G>T)
c.1652G>T (p.Cys551Phe)
c.1700G>T (p.Cys567Phe)
c.1796G>T (p.Cys599Phe)
c.1742G>T (p.Cys581Phe)
c.1703G>T (p.Cys568Phe)
18g.33739224_33739225delinsGCCA2294855876ASXL3c.1823_1824delinsGC (p.Cys608=)
c.1820_1821delinsGC (p.Cys607=)
c.*944_*945delinsGC (n.*944_*945delinsGC)
c.*1479_*1480delinsGC (n.*1479_*1480delinsGC)
c.2032_2033delinsGC (n.2032_2033delinsGC)
c.1652_1653delinsGC (p.Cys551=)
c.1700_1701delinsGC (p.Cys567=)
c.1796_1797delinsGC (p.Cys599=)
c.1742_1743delinsGC (p.Cys581=)
c.1703_1704delinsGC (p.Cys568=)
18g.33739225delCA1139666023ASXL3c.1824del (p.Cys608Ter)
c.1821del (p.Cys607Ter)
c.*945del (n.*945del)
c.*1480del (n.*1480del)
c.2033del (n.2033del)
c.1653del (p.Cys551Ter)
c.1701del (p.Cys567Ter)
c.1797del (p.Cys599Ter)
c.1743del (p.Cys581Ter)
c.1704del (p.Cys568Ter)
 ClinVar dbSNP
18g.33739225C>ACA402176411ASXL3c.1824C>A (p.Cys608Ter)
c.1821C>A (p.Cys607Ter)
c.*945C>A (n.*945C>A)
c.*1480C>A (n.*1480C>A)
c.2033C>A (n.2033C>A)
c.1653C>A (p.Cys551Ter)
c.1701C>A (p.Cys567Ter)
c.1797C>A (p.Cys599Ter)
c.1743C>A (p.Cys581Ter)
c.1704C>A (p.Cys568Ter)
18g.33739225C>GCA402176412ASXL3c.1824C>G (p.Cys608Trp)
c.1821C>G (p.Cys607Trp)
c.*945C>G (n.*945C>G)
c.*1480C>G (n.*1480C>G)
c.2033C>G (n.2033C>G)
c.1653C>G (p.Cys551Trp)
c.1701C>G (p.Cys567Trp)
c.1797C>G (p.Cys599Trp)
c.1743C>G (p.Cys581Trp)
c.1704C>G (p.Cys568Trp)
18g.33739225C>TCA503768787ASXL3c.1824C>T (p.Cys608=)
c.1821C>T (p.Cys607=)
c.*945C>T (n.*945C>T)
c.*1480C>T (n.*1480C>T)
c.2033C>T (n.2033C>T)
c.1653C>T (p.Cys551=)
c.1701C>T (p.Cys567=)
c.1797C>T (p.Cys599=)
c.1743C>T (p.Cys581=)
c.1704C>T (p.Cys568=)
 gnomAD v4
18g.33739226A>CCA402176413ASXL3c.1825A>C (p.Ile609Leu)
c.1822A>C (p.Ile608Leu)
c.*946A>C (n.*946A>C)
c.*1481A>C (n.*1481A>C)
c.2034A>C (n.2034A>C)
c.1654A>C (p.Ile552Leu)
c.1702A>C (p.Ile568Leu)
c.1798A>C (p.Ile600Leu)
c.1744A>C (p.Ile582Leu)
c.1705A>C (p.Ile569Leu)
18g.33739226A>GCA402176414ASXL3c.1825A>G (p.Ile609Val)
c.1822A>G (p.Ile608Val)
c.*946A>G (n.*946A>G)
c.*1481A>G (n.*1481A>G)
c.2034A>G (n.2034A>G)
c.1654A>G (p.Ile552Val)
c.1702A>G (p.Ile568Val)
c.1798A>G (p.Ile600Val)
c.1744A>G (p.Ile582Val)
c.1705A>G (p.Ile569Val)
18g.33739226A>TCA402176415ASXL3c.1825A>T (p.Ile609Phe)
c.1822A>T (p.Ile608Phe)
c.*946A>T (n.*946A>T)
c.*1481A>T (n.*1481A>T)
c.2034A>T (n.2034A>T)
c.1654A>T (p.Ile552Phe)
c.1702A>T (p.Ile568Phe)
c.1798A>T (p.Ile600Phe)
c.1744A>T (p.Ile582Phe)
c.1705A>T (p.Ile569Phe)
18g.33739227T>ACA297787038ASXL3c.1826T>A (p.Ile609Asn)
c.1823T>A (p.Ile608Asn)
c.*947T>A (n.*947T>A)
c.*1482T>A (n.*1482T>A)
c.2035T>A (n.2035T>A)
c.1655T>A (p.Ile552Asn)
c.1703T>A (p.Ile568Asn)
c.1799T>A (p.Ile600Asn)
c.1745T>A (p.Ile582Asn)
c.1706T>A (p.Ile569Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739227T>CCA402176418ASXL3c.1826T>C (p.Ile609Thr)
c.1823T>C (p.Ile608Thr)
c.*947T>C (n.*947T>C)
c.*1482T>C (n.*1482T>C)
c.2035T>C (n.2035T>C)
c.1655T>C (p.Ile552Thr)
c.1703T>C (p.Ile568Thr)
c.1799T>C (p.Ile600Thr)
c.1745T>C (p.Ile582Thr)
c.1706T>C (p.Ile569Thr)
18g.33739227T>GCA402176416ASXL3c.1826T>G (p.Ile609Ser)
c.1823T>G (p.Ile608Ser)
c.*947T>G (n.*947T>G)
c.*1482T>G (n.*1482T>G)
c.2035T>G (n.2035T>G)
c.1655T>G (p.Ile552Ser)
c.1703T>G (p.Ile568Ser)
c.1799T>G (p.Ile600Ser)
c.1745T>G (p.Ile582Ser)
c.1706T>G (p.Ile569Ser)
18g.33739227T=CA2294855877ASXL3c.1826T= (p.Ile609=)
c.1823T= (p.Ile608=)
c.*947T= (n.*947T=)
c.*1482T= (n.*1482T=)
c.2035T= (n.2035T=)
c.1655T= (p.Ile552=)
c.1703T= (p.Ile568=)
c.1799T= (p.Ile600=)
c.1745T= (p.Ile582=)
c.1706T= (p.Ile569=)
18g.33739228C>ACA503768790ASXL3c.1827C>A (p.Ile609=)
c.1824C>A (p.Ile608=)
c.*948C>A (n.*948C>A)
c.*1483C>A (n.*1483C>A)
c.2036C>A (n.2036C>A)
c.1656C>A (p.Ile552=)
c.1704C>A (p.Ile568=)
c.1800C>A (p.Ile600=)
c.1746C>A (p.Ile582=)
c.1707C>A (p.Ile569=)
 gnomAD v4
18g.33739228C=CA2294855878ASXL3c.1827C= (p.Ile609=)
c.1824C= (p.Ile608=)
c.*948C= (n.*948C=)
c.*1483C= (n.*1483C=)
c.2036C= (n.2036C=)
c.1656C= (p.Ile552=)
c.1704C= (p.Ile568=)
c.1800C= (p.Ile600=)
c.1746C= (p.Ile582=)
c.1707C= (p.Ile569=)
18g.33739228C>GCA8933818ASXL3c.1827C>G (p.Ile609Met)
c.1824C>G (p.Ile608Met)
c.*948C>G (n.*948C>G)
c.*1483C>G (n.*1483C>G)
c.2036C>G (n.2036C>G)
c.1656C>G (p.Ile552Met)
c.1704C>G (p.Ile568Met)
c.1800C>G (p.Ile600Met)
c.1746C>G (p.Ile582Met)
c.1707C>G (p.Ile569Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739228C>TCA503768791ASXL3c.1827C>T (p.Ile609=)
c.1824C>T (p.Ile608=)
c.*948C>T (n.*948C>T)
c.*1483C>T (n.*1483C>T)
c.2036C>T (n.2036C>T)
c.1656C>T (p.Ile552=)
c.1704C>T (p.Ile568=)
c.1800C>T (p.Ile600=)
c.1746C>T (p.Ile582=)
c.1707C>T (p.Ile569=)
 gnomAD v4
18g.33739229T>ACA402176422ASXL3c.1828T>A (p.Ser610Thr)
c.1825T>A (p.Ser609Thr)
c.*949T>A (n.*949T>A)
c.*1484T>A (n.*1484T>A)
c.2037T>A (n.2037T>A)
c.1657T>A (p.Ser553Thr)
c.1705T>A (p.Ser569Thr)
c.1801T>A (p.Ser601Thr)
c.1747T>A (p.Ser583Thr)
c.1708T>A (p.Ser570Thr)
18g.33739229T>CCA402176425ASXL3c.1828T>C (p.Ser610Pro)
c.1825T>C (p.Ser609Pro)
c.*949T>C (n.*949T>C)
c.*1484T>C (n.*1484T>C)
c.2037T>C (n.2037T>C)
c.1657T>C (p.Ser553Pro)
c.1705T>C (p.Ser569Pro)
c.1801T>C (p.Ser601Pro)
c.1747T>C (p.Ser583Pro)
c.1708T>C (p.Ser570Pro)
18g.33739229T>GCA402176427ASXL3c.1828T>G (p.Ser610Ala)
c.1825T>G (p.Ser609Ala)
c.*949T>G (n.*949T>G)
c.*1484T>G (n.*1484T>G)
c.2037T>G (n.2037T>G)
c.1657T>G (p.Ser553Ala)
c.1705T>G (p.Ser569Ala)
c.1801T>G (p.Ser601Ala)
c.1747T>G (p.Ser583Ala)
c.1708T>G (p.Ser570Ala)
18g.33739230C>ACA402176431ASXL3c.1829C>A (p.Ser610Tyr)
c.1826C>A (p.Ser609Tyr)
c.*950C>A (n.*950C>A)
c.*1485C>A (n.*1485C>A)
c.2038C>A (n.2038C>A)
c.1658C>A (p.Ser553Tyr)
c.1706C>A (p.Ser569Tyr)
c.1802C>A (p.Ser601Tyr)
c.1748C>A (p.Ser583Tyr)
c.1709C>A (p.Ser570Tyr)
18g.33739230C>GCA402176438ASXL3c.1829C>G (p.Ser610Cys)
c.1826C>G (p.Ser609Cys)
c.*950C>G (n.*950C>G)
c.*1485C>G (n.*1485C>G)
c.2038C>G (n.2038C>G)
c.1658C>G (p.Ser553Cys)
c.1706C>G (p.Ser569Cys)
c.1802C>G (p.Ser601Cys)
c.1748C>G (p.Ser583Cys)
c.1709C>G (p.Ser570Cys)
18g.33739230C>TCA402176441ASXL3c.1829C>T (p.Ser610Phe)
c.1826C>T (p.Ser609Phe)
c.*950C>T (n.*950C>T)
c.*1485C>T (n.*1485C>T)
c.2038C>T (n.2038C>T)
c.1658C>T (p.Ser553Phe)
c.1706C>T (p.Ser569Phe)
c.1802C>T (p.Ser601Phe)
c.1748C>T (p.Ser583Phe)
c.1709C>T (p.Ser570Phe)
 gnomAD v4
18g.33739231T>ACA503768795ASXL3c.1830T>A (p.Ser610=)
c.1827T>A (p.Ser609=)
c.*951T>A (n.*951T>A)
c.*1486T>A (n.*1486T>A)
c.2039T>A (n.2039T>A)
c.1659T>A (p.Ser553=)
c.1707T>A (p.Ser569=)
c.1803T>A (p.Ser601=)
c.1749T>A (p.Ser583=)
c.1710T>A (p.Ser570=)
18g.33739231T>CCA503768797ASXL3c.1830T>C (p.Ser610=)
c.1827T>C (p.Ser609=)
c.*951T>C (n.*951T>C)
c.*1486T>C (n.*1486T>C)
c.2039T>C (n.2039T>C)
c.1659T>C (p.Ser553=)
c.1707T>C (p.Ser569=)
c.1803T>C (p.Ser601=)
c.1749T>C (p.Ser583=)
c.1710T>C (p.Ser570=)
18g.33739231T>GCA503768799ASXL3c.1830T>G (p.Ser610=)
c.1827T>G (p.Ser609=)
c.*951T>G (n.*951T>G)
c.*1486T>G (n.*1486T>G)
c.2039T>G (n.2039T>G)
c.1659T>G (p.Ser553=)
c.1707T>G (p.Ser569=)
c.1803T>G (p.Ser601=)
c.1749T>G (p.Ser583=)
c.1710T>G (p.Ser570=)
18g.33739232G>ACA402176444ASXL3c.1831G>A (p.Glu611Lys)
c.1828G>A (p.Glu610Lys)
c.*952G>A (n.*952G>A)
c.*1487G>A (n.*1487G>A)
c.2040G>A (n.2040G>A)
c.1660G>A (p.Glu554Lys)
c.1708G>A (p.Glu570Lys)
c.1804G>A (p.Glu602Lys)
c.1750G>A (p.Glu584Lys)
c.1711G>A (p.Glu571Lys)
 ClinVar dbSNP
18g.33739232G>CCA402176445ASXL3c.1831G>C (p.Glu611Gln)
c.1828G>C (p.Glu610Gln)
c.*952G>C (n.*952G>C)
c.*1487G>C (n.*1487G>C)
c.2040G>C (n.2040G>C)
c.1660G>C (p.Glu554Gln)
c.1708G>C (p.Glu570Gln)
c.1804G>C (p.Glu602Gln)
c.1750G>C (p.Glu584Gln)
c.1711G>C (p.Glu571Gln)
18g.33739232G>TCA402176447ASXL3c.1831G>T (p.Glu611Ter)
c.1828G>T (p.Glu610Ter)
c.*952G>T (n.*952G>T)
c.*1487G>T (n.*1487G>T)
c.2040G>T (n.2040G>T)
c.1660G>T (p.Glu554Ter)
c.1708G>T (p.Glu570Ter)
c.1804G>T (p.Glu602Ter)
c.1750G>T (p.Glu584Ter)
c.1711G>T (p.Glu571Ter)
18g.33739233A>CCA402176450ASXL3c.1832A>C (p.Glu611Ala)
c.1829A>C (p.Glu610Ala)
c.*953A>C (n.*953A>C)
c.*1488A>C (n.*1488A>C)
c.2041A>C (n.2041A>C)
c.1661A>C (p.Glu554Ala)
c.1709A>C (p.Glu570Ala)
c.1805A>C (p.Glu602Ala)
c.1751A>C (p.Glu584Ala)
c.1712A>C (p.Glu571Ala)
18g.33739233A>GCA402176452ASXL3c.1832A>G (p.Glu611Gly)
c.1829A>G (p.Glu610Gly)
c.*953A>G (n.*953A>G)
c.*1488A>G (n.*1488A>G)
c.2041A>G (n.2041A>G)
c.1661A>G (p.Glu554Gly)
c.1709A>G (p.Glu570Gly)
c.1805A>G (p.Glu602Gly)
c.1751A>G (p.Glu584Gly)
c.1712A>G (p.Glu571Gly)
18g.33739233A>TCA402176455ASXL3c.1832A>T (p.Glu611Val)
c.1829A>T (p.Glu610Val)
c.*953A>T (n.*953A>T)
c.*1488A>T (n.*1488A>T)
c.2041A>T (n.2041A>T)
c.1661A>T (p.Glu554Val)
c.1709A>T (p.Glu570Val)
c.1805A>T (p.Glu602Val)
c.1751A>T (p.Glu584Val)
c.1712A>T (p.Glu571Val)
18g.33739234A>CCA402176458ASXL3c.1833A>C (p.Glu611Asp)
c.1830A>C (p.Glu610Asp)
c.*954A>C (n.*954A>C)
c.*1489A>C (n.*1489A>C)
c.2042A>C (n.2042A>C)
c.1662A>C (p.Glu554Asp)
c.1710A>C (p.Glu570Asp)
c.1806A>C (p.Glu602Asp)
c.1752A>C (p.Glu584Asp)
c.1713A>C (p.Glu571Asp)
18g.33739234A>GCA503768803ASXL3c.1833A>G (p.Glu611=)
c.1830A>G (p.Glu610=)
c.*954A>G (n.*954A>G)
c.*1489A>G (n.*1489A>G)
c.2042A>G (n.2042A>G)
c.1662A>G (p.Glu554=)
c.1710A>G (p.Glu570=)
c.1806A>G (p.Glu602=)
c.1752A>G (p.Glu584=)
c.1713A>G (p.Glu571=)
18g.33739234A>TCA402176460ASXL3c.1833A>T (p.Glu611Asp)
c.1830A>T (p.Glu610Asp)
c.*954A>T (n.*954A>T)
c.*1489A>T (n.*1489A>T)
c.2042A>T (n.2042A>T)
c.1662A>T (p.Glu554Asp)
c.1710A>T (p.Glu570Asp)
c.1806A>T (p.Glu602Asp)
c.1752A>T (p.Glu584Asp)
c.1713A>T (p.Glu571Asp)
18g.33739235A>CCA402176465ASXL3c.1834A>C (p.Thr612Pro)
c.1831A>C (p.Thr611Pro)
c.*955A>C (n.*955A>C)
c.*1490A>C (n.*1490A>C)
c.2043A>C (n.2043A>C)
c.1663A>C (p.Thr555Pro)
c.1711A>C (p.Thr571Pro)
c.1807A>C (p.Thr603Pro)
c.1753A>C (p.Thr585Pro)
c.1714A>C (p.Thr572Pro)
18g.33739235A>GCA402176469ASXL3c.1834A>G (p.Thr612Ala)
c.1831A>G (p.Thr611Ala)
c.*955A>G (n.*955A>G)
c.*1490A>G (n.*1490A>G)
c.2043A>G (n.2043A>G)
c.1663A>G (p.Thr555Ala)
c.1711A>G (p.Thr571Ala)
c.1807A>G (p.Thr603Ala)
c.1753A>G (p.Thr585Ala)
c.1714A>G (p.Thr572Ala)
18g.33739235A>TCA402176467ASXL3c.1834A>T (p.Thr612Ser)
c.1831A>T (p.Thr611Ser)
c.*955A>T (n.*955A>T)
c.*1490A>T (n.*1490A>T)
c.2043A>T (n.2043A>T)
c.1663A>T (p.Thr555Ser)
c.1711A>T (p.Thr571Ser)
c.1807A>T (p.Thr603Ser)
c.1753A>T (p.Thr585Ser)
c.1714A>T (p.Thr572Ser)
18g.33739236C>ACA402176472ASXL3c.1835C>A (p.Thr612Lys)
c.1832C>A (p.Thr611Lys)
c.*956C>A (n.*956C>A)
c.*1491C>A (n.*1491C>A)
c.2044C>A (n.2044C>A)
c.1664C>A (p.Thr555Lys)
c.1712C>A (p.Thr571Lys)
c.1808C>A (p.Thr603Lys)
c.1754C>A (p.Thr585Lys)
c.1715C>A (p.Thr572Lys)
18g.33739236C=CA2294855879ASXL3c.1835C= (p.Thr612=)
c.1832C= (p.Thr611=)
c.*956C= (n.*956C=)
c.*1491C= (n.*1491C=)
c.2044C= (n.2044C=)
c.1664C= (p.Thr555=)
c.1712C= (p.Thr571=)
c.1808C= (p.Thr603=)
c.1754C= (p.Thr585=)
c.1715C= (p.Thr572=)
18g.33739236C>GCA402176476ASXL3c.1835C>G (p.Thr612Arg)
c.1832C>G (p.Thr611Arg)
c.*956C>G (n.*956C>G)
c.*1491C>G (n.*1491C>G)
c.2044C>G (n.2044C>G)
c.1664C>G (p.Thr555Arg)
c.1712C>G (p.Thr571Arg)
c.1808C>G (p.Thr603Arg)
c.1754C>G (p.Thr585Arg)
c.1715C>G (p.Thr572Arg)
18g.33739236C>TCA8933819ASXL3c.1835C>T (p.Thr612Met)
c.1832C>T (p.Thr611Met)
c.*956C>T (n.*956C>T)
c.*1491C>T (n.*1491C>T)
c.2044C>T (n.2044C>T)
c.1664C>T (p.Thr555Met)
c.1712C>T (p.Thr571Met)
c.1808C>T (p.Thr603Met)
c.1754C>T (p.Thr585Met)
c.1715C>T (p.Thr572Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739237G>ACA8933820ASXL3c.1836G>A (p.Thr612=)
c.1833G>A (p.Thr611=)
c.*957G>A (n.*957G>A)
c.*1492G>A (n.*1492G>A)
c.2045G>A (n.2045G>A)
c.1665G>A (p.Thr555=)
c.1713G>A (p.Thr571=)
c.1809G>A (p.Thr603=)
c.1755G>A (p.Thr585=)
c.1716G>A (p.Thr572=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739237G>CCA503768807ASXL3c.1836G>C (p.Thr612=)
c.1833G>C (p.Thr611=)
c.*957G>C (n.*957G>C)
c.*1492G>C (n.*1492G>C)
c.2045G>C (n.2045G>C)
c.1665G>C (p.Thr555=)
c.1713G>C (p.Thr571=)
c.1809G>C (p.Thr603=)
c.1755G>C (p.Thr585=)
c.1716G>C (p.Thr572=)
18g.33739237G=CA2294855880ASXL3c.1836G= (p.Thr612=)
c.1833G= (p.Thr611=)
c.*957G= (n.*957G=)
c.*1492G= (n.*1492G=)
c.2045G= (n.2045G=)
c.1665G= (p.Thr555=)
c.1713G= (p.Thr571=)
c.1809G= (p.Thr603=)
c.1755G= (p.Thr585=)
c.1716G= (p.Thr572=)
18g.33739237G>TCA503768805ASXL3c.1836G>T (p.Thr612=)
c.1833G>T (p.Thr611=)
c.*957G>T (n.*957G>T)
c.*1492G>T (n.*1492G>T)
c.2045G>T (n.2045G>T)
c.1665G>T (p.Thr555=)
c.1713G>T (p.Thr571=)
c.1809G>T (p.Thr603=)
c.1755G>T (p.Thr585=)
c.1716G>T (p.Thr572=)
18g.33739238T>ACA402176483ASXL3c.1837T>A (p.Ser613Thr)
c.1834T>A (p.Ser612Thr)
c.*958T>A (n.*958T>A)
c.*1493T>A (n.*1493T>A)
c.2046T>A (n.2046T>A)
c.1666T>A (p.Ser556Thr)
c.1714T>A (p.Ser572Thr)
c.1810T>A (p.Ser604Thr)
c.1756T>A (p.Ser586Thr)
c.1717T>A (p.Ser573Thr)
18g.33739238T>CCA402176481ASXL3c.1837T>C (p.Ser613Pro)
c.1834T>C (p.Ser612Pro)
c.*958T>C (n.*958T>C)
c.*1493T>C (n.*1493T>C)
c.2046T>C (n.2046T>C)
c.1666T>C (p.Ser556Pro)
c.1714T>C (p.Ser572Pro)
c.1810T>C (p.Ser604Pro)
c.1756T>C (p.Ser586Pro)
c.1717T>C (p.Ser573Pro)
18g.33739238T>GCA402176485ASXL3c.1837T>G (p.Ser613Ala)
c.1834T>G (p.Ser612Ala)
c.*958T>G (n.*958T>G)
c.*1493T>G (n.*1493T>G)
c.2046T>G (n.2046T>G)
c.1666T>G (p.Ser556Ala)
c.1714T>G (p.Ser572Ala)
c.1810T>G (p.Ser604Ala)
c.1756T>G (p.Ser586Ala)
c.1717T>G (p.Ser573Ala)
18g.33739239C>ACA402176488ASXL3c.1838C>A (p.Ser613Tyr)
c.1835C>A (p.Ser612Tyr)
c.*959C>A (n.*959C>A)
c.*1494C>A (n.*1494C>A)
c.2047C>A (n.2047C>A)
c.1667C>A (p.Ser556Tyr)
c.1715C>A (p.Ser572Tyr)
c.1811C>A (p.Ser604Tyr)
c.1757C>A (p.Ser586Tyr)
c.1718C>A (p.Ser573Tyr)
18g.33739239C>GCA402176491ASXL3c.1838C>G (p.Ser613Cys)
c.1835C>G (p.Ser612Cys)
c.*959C>G (n.*959C>G)
c.*1494C>G (n.*1494C>G)
c.2047C>G (n.2047C>G)
c.1667C>G (p.Ser556Cys)
c.1715C>G (p.Ser572Cys)
c.1811C>G (p.Ser604Cys)
c.1757C>G (p.Ser586Cys)
c.1718C>G (p.Ser573Cys)
18g.33739239C>TCA402176490ASXL3c.1838C>T (p.Ser613Phe)
c.1835C>T (p.Ser612Phe)
c.*959C>T (n.*959C>T)
c.*1494C>T (n.*1494C>T)
c.2047C>T (n.2047C>T)
c.1667C>T (p.Ser556Phe)
c.1715C>T (p.Ser572Phe)
c.1811C>T (p.Ser604Phe)
c.1757C>T (p.Ser586Phe)
c.1718C>T (p.Ser573Phe)
 gnomAD v4
18g.33739240C>ACA503768811ASXL3c.1839C>A (p.Ser613=)
c.1836C>A (p.Ser612=)
c.*960C>A (n.*960C>A)
c.*1495C>A (n.*1495C>A)
c.2048C>A (n.2048C>A)
c.1668C>A (p.Ser556=)
c.1716C>A (p.Ser572=)
c.1812C>A (p.Ser604=)
c.1758C>A (p.Ser586=)
c.1719C>A (p.Ser573=)
 dbSNP gnomAD v3 gnomAD v4
18g.33739240C=CA2294855881ASXL3c.1839C= (p.Ser613=)
c.1836C= (p.Ser612=)
c.*960C= (n.*960C=)
c.*1495C= (n.*1495C=)
c.2048C= (n.2048C=)
c.1668C= (p.Ser556=)
c.1716C= (p.Ser572=)
c.1812C= (p.Ser604=)
c.1758C= (p.Ser586=)
c.1719C= (p.Ser573=)
18g.33739240C>GCA503768815ASXL3c.1839C>G (p.Ser613=)
c.1836C>G (p.Ser612=)
c.*960C>G (n.*960C>G)
c.*1495C>G (n.*1495C>G)
c.2048C>G (n.2048C>G)
c.1668C>G (p.Ser556=)
c.1716C>G (p.Ser572=)
c.1812C>G (p.Ser604=)
c.1758C>G (p.Ser586=)
c.1719C>G (p.Ser573=)
 dbSNP
18g.33739240C>TCA503768814ASXL3c.1839C>T (p.Ser613=)
c.1836C>T (p.Ser612=)
c.*960C>T (n.*960C>T)
c.*1495C>T (n.*1495C>T)
c.2048C>T (n.2048C>T)
c.1668C>T (p.Ser556=)
c.1716C>T (p.Ser572=)
c.1812C>T (p.Ser604=)
c.1758C>T (p.Ser586=)
c.1719C>T (p.Ser573=)
 dbSNP
18g.33739241T>ACA402176492ASXL3c.1840T>A (p.Phe614Ile)
c.1837T>A (p.Phe613Ile)
c.*961T>A (n.*961T>A)
c.*1496T>A (n.*1496T>A)
c.2049T>A (n.2049T>A)
c.1669T>A (p.Phe557Ile)
c.1717T>A (p.Phe573Ile)
c.1813T>A (p.Phe605Ile)
c.1759T>A (p.Phe587Ile)
c.1720T>A (p.Phe574Ile)
18g.33739241T>CCA402176493ASXL3c.1840T>C (p.Phe614Leu)
c.1837T>C (p.Phe613Leu)
c.*961T>C (n.*961T>C)
c.*1496T>C (n.*1496T>C)
c.2049T>C (n.2049T>C)
c.1669T>C (p.Phe557Leu)
c.1717T>C (p.Phe573Leu)
c.1813T>C (p.Phe605Leu)
c.1759T>C (p.Phe587Leu)
c.1720T>C (p.Phe574Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739241T>GCA402176494ASXL3c.1840T>G (p.Phe614Val)
c.1837T>G (p.Phe613Val)
c.*961T>G (n.*961T>G)
c.*1496T>G (n.*1496T>G)
c.2049T>G (n.2049T>G)
c.1669T>G (p.Phe557Val)
c.1717T>G (p.Phe573Val)
c.1813T>G (p.Phe605Val)
c.1759T>G (p.Phe587Val)
c.1720T>G (p.Phe574Val)
 dbSNP
18g.33739241T=CA2294855882ASXL3c.1840T= (p.Phe614=)
c.1837T= (p.Phe613=)
c.*961T= (n.*961T=)
c.*1496T= (n.*1496T=)
c.2049T= (n.2049T=)
c.1669T= (p.Phe557=)
c.1717T= (p.Phe573=)
c.1813T= (p.Phe605=)
c.1759T= (p.Phe587=)
c.1720T= (p.Phe574=)
18g.33739244delCA2641457415ASXL3c.1843del (p.Ser615LeufsTer?)
c.1840del (p.Ser614LeufsTer?)
c.*964del (n.*964del)
c.*1499del (n.*1499del)
c.2052del (n.2052del)
c.1672del (p.Ser558LeufsTer?)
c.1720del (p.Ser574LeufsTer?)
c.1816del (p.Ser606LeufsTer?)
c.1762del (p.Ser588LeufsTer?)
c.1723del (p.Ser575LeufsTer?)
 gnomAD v4
18g.33739242T>ACA402176495ASXL3c.1841T>A (p.Phe614Tyr)
c.1838T>A (p.Phe613Tyr)
c.*962T>A (n.*962T>A)
c.*1497T>A (n.*1497T>A)
c.2050T>A (n.2050T>A)
c.1670T>A (p.Phe557Tyr)
c.1718T>A (p.Phe573Tyr)
c.1814T>A (p.Phe605Tyr)
c.1760T>A (p.Phe587Tyr)
c.1721T>A (p.Phe574Tyr)
18g.33739242T>CCA402176497ASXL3c.1841T>C (p.Phe614Ser)
c.1838T>C (p.Phe613Ser)
c.*962T>C (n.*962T>C)
c.*1497T>C (n.*1497T>C)
c.2050T>C (n.2050T>C)
c.1670T>C (p.Phe557Ser)
c.1718T>C (p.Phe573Ser)
c.1814T>C (p.Phe605Ser)
c.1760T>C (p.Phe587Ser)
c.1721T>C (p.Phe574Ser)
18g.33739242T>GCA402176499ASXL3c.1841T>G (p.Phe614Cys)
c.1838T>G (p.Phe613Cys)
c.*962T>G (n.*962T>G)
c.*1497T>G (n.*1497T>G)
c.2050T>G (n.2050T>G)
c.1670T>G (p.Phe557Cys)
c.1718T>G (p.Phe573Cys)
c.1814T>G (p.Phe605Cys)
c.1760T>G (p.Phe587Cys)
c.1721T>G (p.Phe574Cys)
18g.33739243T>ACA402176501ASXL3c.1842T>A (p.Phe614Leu)
c.1839T>A (p.Phe613Leu)
c.*963T>A (n.*963T>A)
c.*1498T>A (n.*1498T>A)
c.2051T>A (n.2051T>A)
c.1671T>A (p.Phe557Leu)
c.1719T>A (p.Phe573Leu)
c.1815T>A (p.Phe605Leu)
c.1761T>A (p.Phe587Leu)
c.1722T>A (p.Phe574Leu)
18g.33739243T>CCA503768817ASXL3c.1842T>C (p.Phe614=)
c.1839T>C (p.Phe613=)
c.*963T>C (n.*963T>C)
c.*1498T>C (n.*1498T>C)
c.2051T>C (n.2051T>C)
c.1671T>C (p.Phe557=)
c.1719T>C (p.Phe573=)
c.1815T>C (p.Phe605=)
c.1761T>C (p.Phe587=)
c.1722T>C (p.Phe574=)
18g.33739243T>GCA402176503ASXL3c.1842T>G (p.Phe614Leu)
c.1839T>G (p.Phe613Leu)
c.*963T>G (n.*963T>G)
c.*1498T>G (n.*1498T>G)
c.2051T>G (n.2051T>G)
c.1671T>G (p.Phe557Leu)
c.1719T>G (p.Phe573Leu)
c.1815T>G (p.Phe605Leu)
c.1761T>G (p.Phe587Leu)
c.1722T>G (p.Phe574Leu)
18g.33739244T>ACA402176507ASXL3c.1843T>A (p.Ser615Thr)
c.1840T>A (p.Ser614Thr)
c.*964T>A (n.*964T>A)
c.*1499T>A (n.*1499T>A)
c.2052T>A (n.2052T>A)
c.1672T>A (p.Ser558Thr)
c.1720T>A (p.Ser574Thr)
c.1816T>A (p.Ser606Thr)
c.1762T>A (p.Ser588Thr)
c.1723T>A (p.Ser575Thr)
18g.33739244T>CCA402176509ASXL3c.1843T>C (p.Ser615Pro)
c.1840T>C (p.Ser614Pro)
c.*964T>C (n.*964T>C)
c.*1499T>C (n.*1499T>C)
c.2052T>C (n.2052T>C)
c.1672T>C (p.Ser558Pro)
c.1720T>C (p.Ser574Pro)
c.1816T>C (p.Ser606Pro)
c.1762T>C (p.Ser588Pro)
c.1723T>C (p.Ser575Pro)
18g.33739244T>GCA402176511ASXL3c.1843T>G (p.Ser615Ala)
c.1840T>G (p.Ser614Ala)
c.*964T>G (n.*964T>G)
c.*1499T>G (n.*1499T>G)
c.2052T>G (n.2052T>G)
c.1672T>G (p.Ser558Ala)
c.1720T>G (p.Ser574Ala)
c.1816T>G (p.Ser606Ala)
c.1762T>G (p.Ser588Ala)
c.1723T>G (p.Ser575Ala)
18g.33739245C>ACA402176518ASXL3c.1844C>A (p.Ser615Tyr)
c.1841C>A (p.Ser614Tyr)
c.*965C>A (n.*965C>A)
c.*1500C>A (n.*1500C>A)
c.2053C>A (n.2053C>A)
c.1673C>A (p.Ser558Tyr)
c.1721C>A (p.Ser574Tyr)
c.1817C>A (p.Ser606Tyr)
c.1763C>A (p.Ser588Tyr)
c.1724C>A (p.Ser575Tyr)
18g.33739245C=CA2294855883ASXL3c.1844C= (p.Ser615=)
c.1841C= (p.Ser614=)
c.*965C= (n.*965C=)
c.*1500C= (n.*1500C=)
c.2053C= (n.2053C=)
c.1673C= (p.Ser558=)
c.1721C= (p.Ser574=)
c.1817C= (p.Ser606=)
c.1763C= (p.Ser588=)
c.1724C= (p.Ser575=)
18g.33739245C>GCA402176517ASXL3c.1844C>G (p.Ser615Cys)
c.1841C>G (p.Ser614Cys)
c.*965C>G (n.*965C>G)
c.*1500C>G (n.*1500C>G)
c.2053C>G (n.2053C>G)
c.1673C>G (p.Ser558Cys)
c.1721C>G (p.Ser574Cys)
c.1817C>G (p.Ser606Cys)
c.1763C>G (p.Ser588Cys)
c.1724C>G (p.Ser575Cys)
18g.33739245C>TCA402176515ASXL3c.1844C>T (p.Ser615Phe)
c.1841C>T (p.Ser614Phe)
c.*965C>T (n.*965C>T)
c.*1500C>T (n.*1500C>T)
c.2053C>T (n.2053C>T)
c.1673C>T (p.Ser558Phe)
c.1721C>T (p.Ser574Phe)
c.1817C>T (p.Ser606Phe)
c.1763C>T (p.Ser588Phe)
c.1724C>T (p.Ser575Phe)
 ClinVar dbSNP
18g.33739246T>ACA503768819ASXL3c.1845T>A (p.Ser615=)
c.1842T>A (p.Ser614=)
c.*966T>A (n.*966T>A)
c.*1501T>A (n.*1501T>A)
c.2054T>A (n.2054T>A)
c.1674T>A (p.Ser558=)
c.1722T>A (p.Ser574=)
c.1818T>A (p.Ser606=)
c.1764T>A (p.Ser588=)
c.1725T>A (p.Ser575=)
18g.33739246T>CCA503768821ASXL3c.1845T>C (p.Ser615=)
c.1842T>C (p.Ser614=)
c.*966T>C (n.*966T>C)
c.*1501T>C (n.*1501T>C)
c.2054T>C (n.2054T>C)
c.1674T>C (p.Ser558=)
c.1722T>C (p.Ser574=)
c.1818T>C (p.Ser606=)
c.1764T>C (p.Ser588=)
c.1725T>C (p.Ser575=)
18g.33739246T>GCA503768823ASXL3c.1845T>G (p.Ser615=)
c.1842T>G (p.Ser614=)
c.*966T>G (n.*966T>G)
c.*1501T>G (n.*1501T>G)
c.2054T>G (n.2054T>G)
c.1674T>G (p.Ser558=)
c.1722T>G (p.Ser574=)
c.1818T>G (p.Ser606=)
c.1764T>G (p.Ser588=)
c.1725T>G (p.Ser575=)
18g.33739247T>ACA402176521ASXL3c.1846T>A (p.Ser616Thr)
c.1843T>A (p.Ser615Thr)
c.*967T>A (n.*967T>A)
c.*1502T>A (n.*1502T>A)
c.2055T>A (n.2055T>A)
c.1675T>A (p.Ser559Thr)
c.1723T>A (p.Ser575Thr)
c.1819T>A (p.Ser607Thr)
c.1765T>A (p.Ser589Thr)
c.1726T>A (p.Ser576Thr)
18g.33739247T>CCA402176523ASXL3c.1846T>C (p.Ser616Pro)
c.1843T>C (p.Ser615Pro)
c.*967T>C (n.*967T>C)
c.*1502T>C (n.*1502T>C)
c.2055T>C (n.2055T>C)
c.1675T>C (p.Ser559Pro)
c.1723T>C (p.Ser575Pro)
c.1819T>C (p.Ser607Pro)
c.1765T>C (p.Ser589Pro)
c.1726T>C (p.Ser576Pro)
18g.33739247T>GCA402176525ASXL3c.1846T>G (p.Ser616Ala)
c.1843T>G (p.Ser615Ala)
c.*967T>G (n.*967T>G)
c.*1502T>G (n.*1502T>G)
c.2055T>G (n.2055T>G)
c.1675T>G (p.Ser559Ala)
c.1723T>G (p.Ser575Ala)
c.1819T>G (p.Ser607Ala)
c.1765T>G (p.Ser589Ala)
c.1726T>G (p.Ser576Ala)
18g.33739248C>ACA402176528ASXL3c.1847C>A (p.Ser616Tyr)
c.1844C>A (p.Ser615Tyr)
c.*968C>A (n.*968C>A)
c.*1503C>A (n.*1503C>A)
c.2056C>A (n.2056C>A)
c.1676C>A (p.Ser559Tyr)
c.1724C>A (p.Ser575Tyr)
c.1820C>A (p.Ser607Tyr)
c.1766C>A (p.Ser589Tyr)
c.1727C>A (p.Ser576Tyr)
18g.33739248C=CA2294855884ASXL3c.1847C= (p.Ser616=)
c.1844C= (p.Ser615=)
c.*968C= (n.*968C=)
c.*1503C= (n.*1503C=)
c.2056C= (n.2056C=)
c.1676C= (p.Ser559=)
c.1724C= (p.Ser575=)
c.1820C= (p.Ser607=)
c.1766C= (p.Ser589=)
c.1727C= (p.Ser576=)
18g.33739248C>GCA402176531ASXL3c.1847C>G (p.Ser616Cys)
c.1844C>G (p.Ser615Cys)
c.*968C>G (n.*968C>G)
c.*1503C>G (n.*1503C>G)
c.2056C>G (n.2056C>G)
c.1676C>G (p.Ser559Cys)
c.1724C>G (p.Ser575Cys)
c.1820C>G (p.Ser607Cys)
c.1766C>G (p.Ser589Cys)
c.1727C>G (p.Ser576Cys)
 dbSNP gnomAD v4
18g.33739248C>TCA402176536ASXL3c.1847C>T (p.Ser616Phe)
c.1844C>T (p.Ser615Phe)
c.*968C>T (n.*968C>T)
c.*1503C>T (n.*1503C>T)
c.2056C>T (n.2056C>T)
c.1676C>T (p.Ser559Phe)
c.1724C>T (p.Ser575Phe)
c.1820C>T (p.Ser607Phe)
c.1766C>T (p.Ser589Phe)
c.1727C>T (p.Ser576Phe)
 dbSNP gnomAD v4
18g.33739249T>ACA503768827ASXL3c.1848T>A (p.Ser616=)
c.1845T>A (p.Ser615=)
c.*969T>A (n.*969T>A)
c.*1504T>A (n.*1504T>A)
c.2057T>A (n.2057T>A)
c.1677T>A (p.Ser559=)
c.1725T>A (p.Ser575=)
c.1821T>A (p.Ser607=)
c.1767T>A (p.Ser589=)
c.1728T>A (p.Ser576=)
18g.33739249T>CCA503768829ASXL3c.1848T>C (p.Ser616=)
c.1845T>C (p.Ser615=)
c.*969T>C (n.*969T>C)
c.*1504T>C (n.*1504T>C)
c.2057T>C (n.2057T>C)
c.1677T>C (p.Ser559=)
c.1725T>C (p.Ser575=)
c.1821T>C (p.Ser607=)
c.1767T>C (p.Ser589=)
c.1728T>C (p.Ser576=)
18g.33739249T>GCA503768831ASXL3c.1848T>G (p.Ser616=)
c.1845T>G (p.Ser615=)
c.*969T>G (n.*969T>G)
c.*1504T>G (n.*1504T>G)
c.2057T>G (n.2057T>G)
c.1677T>G (p.Ser559=)
c.1725T>G (p.Ser575=)
c.1821T>G (p.Ser607=)
c.1767T>G (p.Ser589=)
c.1728T>G (p.Ser576=)
18g.33739249_33739251delinsTGACA2294855885ASXL3c.1848_1850delinsTGA (p.Ser616=)
c.1845_1847delinsTGA (p.Ser615=)
c.*969_*971delinsTGA (n.*969_*971delinsTGA)
c.*1504_*1506delinsTGA (n.*1504_*1506delinsTGA)
c.2057_2059delinsTGA (n.2057_2059delinsTGA)
c.1677_1679delinsTGA (p.Ser559=)
c.1725_1727delinsTGA (p.Ser575=)
c.1821_1823delinsTGA (p.Ser607=)
c.1767_1769delinsTGA (p.Ser589=)
c.1728_1730delinsTGA (p.Ser576=)
18g.33739250G>ACA402176539ASXL3c.1849G>A (p.Glu617Lys)
c.1846G>A (p.Glu616Lys)
c.*970G>A (n.*970G>A)
c.*1505G>A (n.*1505G>A)
c.2058G>A (n.2058G>A)
c.1678G>A (p.Glu560Lys)
c.1726G>A (p.Glu576Lys)
c.1822G>A (p.Glu608Lys)
c.1768G>A (p.Glu590Lys)
c.1729G>A (p.Glu577Lys)
 dbSNP gnomAD v3 gnomAD v4
18g.33739250G>CCA402176540ASXL3c.1849G>C (p.Glu617Gln)
c.1846G>C (p.Glu616Gln)
c.*970G>C (n.*970G>C)
c.*1505G>C (n.*1505G>C)
c.2058G>C (n.2058G>C)
c.1678G>C (p.Glu560Gln)
c.1726G>C (p.Glu576Gln)
c.1822G>C (p.Glu608Gln)
c.1768G>C (p.Glu590Gln)
c.1729G>C (p.Glu577Gln)
 COSMIC COSMIC
18g.33739250G=CA2294855886ASXL3c.1849G= (p.Glu617=)
c.1846G= (p.Glu616=)
c.*970G= (n.*970G=)
c.*1505G= (n.*1505G=)
c.2058G= (n.2058G=)
c.1678G= (p.Glu560=)
c.1726G= (p.Glu576=)
c.1822G= (p.Glu608=)
c.1768G= (p.Glu590=)
c.1729G= (p.Glu577=)
18g.33739250G>TCA402176545ASXL3c.1849G>T (p.Glu617Ter)
c.1846G>T (p.Glu616Ter)
c.*970G>T (n.*970G>T)
c.*1505G>T (n.*1505G>T)
c.2058G>T (n.2058G>T)
c.1678G>T (p.Glu560Ter)
c.1726G>T (p.Glu576Ter)
c.1822G>T (p.Glu608Ter)
c.1768G>T (p.Glu590Ter)
c.1729G>T (p.Glu577Ter)
18g.33739253_33739254delCA658795129ASXL3c.1852_1853del (p.Ser618ProfsTer29)
c.1849_1850del (p.Ser617ProfsTer29)
c.*973_*974del (n.*973_*974del)
c.*1508_*1509del (n.*1508_*1509del)
c.2061_2062del (n.2061_2062del)
c.1681_1682del (p.Ser561ProfsTer29)
c.1729_1730del (p.Ser577ProfsTer29)
c.1825_1826del (p.Ser609ProfsTer29)
c.1771_1772del (p.Ser591ProfsTer29)
c.1732_1733del (p.Ser578ProfsTer29)
 ClinVar dbSNP
18g.33739251A>CCA402176549ASXL3c.1850A>C (p.Glu617Ala)
c.1847A>C (p.Glu616Ala)
c.*971A>C (n.*971A>C)
c.*1506A>C (n.*1506A>C)
c.2059A>C (n.2059A>C)
c.1679A>C (p.Glu560Ala)
c.1727A>C (p.Glu576Ala)
c.1823A>C (p.Glu608Ala)
c.1769A>C (p.Glu590Ala)
c.1730A>C (p.Glu577Ala)
18g.33739251A>GCA402176551ASXL3c.1850A>G (p.Glu617Gly)
c.1847A>G (p.Glu616Gly)
c.*971A>G (n.*971A>G)
c.*1506A>G (n.*1506A>G)
c.2059A>G (n.2059A>G)
c.1679A>G (p.Glu560Gly)
c.1727A>G (p.Glu576Gly)
c.1823A>G (p.Glu608Gly)
c.1769A>G (p.Glu590Gly)
c.1730A>G (p.Glu577Gly)
18g.33739251A>TCA402176554ASXL3c.1850A>T (p.Glu617Val)
c.1847A>T (p.Glu616Val)
c.*971A>T (n.*971A>T)
c.*1506A>T (n.*1506A>T)
c.2059A>T (n.2059A>T)
c.1679A>T (p.Glu560Val)
c.1727A>T (p.Glu576Val)
c.1823A>T (p.Glu608Val)
c.1769A>T (p.Glu590Val)
c.1730A>T (p.Glu577Val)
18g.33739252G>ACA503768836ASXL3c.1851G>A (p.Glu617=)
c.1848G>A (p.Glu616=)
c.*972G>A (n.*972G>A)
c.*1507G>A (n.*1507G>A)
c.2060G>A (n.2060G>A)
c.1680G>A (p.Glu560=)
c.1728G>A (p.Glu576=)
c.1824G>A (p.Glu608=)
c.1770G>A (p.Glu590=)
c.1731G>A (p.Glu577=)
18g.33739252G>CCA402176558ASXL3c.1851G>C (p.Glu617Asp)
c.1848G>C (p.Glu616Asp)
c.*972G>C (n.*972G>C)
c.*1507G>C (n.*1507G>C)
c.2060G>C (n.2060G>C)
c.1680G>C (p.Glu560Asp)
c.1728G>C (p.Glu576Asp)
c.1824G>C (p.Glu608Asp)
c.1770G>C (p.Glu590Asp)
c.1731G>C (p.Glu577Asp)
18g.33739252G>TCA402176557ASXL3c.1851G>T (p.Glu617Asp)
c.1848G>T (p.Glu616Asp)
c.*972G>T (n.*972G>T)
c.*1507G>T (n.*1507G>T)
c.2060G>T (n.2060G>T)
c.1680G>T (p.Glu560Asp)
c.1728G>T (p.Glu576Asp)
c.1824G>T (p.Glu608Asp)
c.1770G>T (p.Glu590Asp)
c.1731G>T (p.Glu577Asp)
18g.33739253A>CCA402176561ASXL3c.1852A>C (p.Ser618Arg)
c.1849A>C (p.Ser617Arg)
c.*973A>C (n.*973A>C)
c.*1508A>C (n.*1508A>C)
c.2061A>C (n.2061A>C)
c.1681A>C (p.Ser561Arg)
c.1729A>C (p.Ser577Arg)
c.1825A>C (p.Ser609Arg)
c.1771A>C (p.Ser591Arg)
c.1732A>C (p.Ser578Arg)
18g.33739253A>GCA402176563ASXL3c.1852A>G (p.Ser618Gly)
c.1849A>G (p.Ser617Gly)
c.*973A>G (n.*973A>G)
c.*1508A>G (n.*1508A>G)
c.2061A>G (n.2061A>G)
c.1681A>G (p.Ser561Gly)
c.1729A>G (p.Ser577Gly)
c.1825A>G (p.Ser609Gly)
c.1771A>G (p.Ser591Gly)
c.1732A>G (p.Ser578Gly)
18g.33739253A>TCA402176565ASXL3c.1852A>T (p.Ser618Cys)
c.1849A>T (p.Ser617Cys)
c.*973A>T (n.*973A>T)
c.*1508A>T (n.*1508A>T)
c.2061A>T (n.2061A>T)
c.1681A>T (p.Ser561Cys)
c.1729A>T (p.Ser577Cys)
c.1825A>T (p.Ser609Cys)
c.1771A>T (p.Ser591Cys)
c.1732A>T (p.Ser578Cys)
18g.33739254G>ACA402176569ASXL3c.1853G>A (p.Ser618Asn)
c.1850G>A (p.Ser617Asn)
c.*974G>A (n.*974G>A)
c.*1509G>A (n.*1509G>A)
c.2062G>A (n.2062G>A)
c.1682G>A (p.Ser561Asn)
c.1730G>A (p.Ser577Asn)
c.1826G>A (p.Ser609Asn)
c.1772G>A (p.Ser591Asn)
c.1733G>A (p.Ser578Asn)
 gnomAD v4
18g.33739254G>CCA402176571ASXL3c.1853G>C (p.Ser618Thr)
c.1850G>C (p.Ser617Thr)
c.*974G>C (n.*974G>C)
c.*1509G>C (n.*1509G>C)
c.2062G>C (n.2062G>C)
c.1682G>C (p.Ser561Thr)
c.1730G>C (p.Ser577Thr)
c.1826G>C (p.Ser609Thr)
c.1772G>C (p.Ser591Thr)
c.1733G>C (p.Ser578Thr)
 gnomAD v4
18g.33739254G=CA2294855887ASXL3c.1853G= (p.Ser618=)
c.1850G= (p.Ser617=)
c.*974G= (n.*974G=)
c.*1509G= (n.*1509G=)
c.2062G= (n.2062G=)
c.1682G= (p.Ser561=)
c.1730G= (p.Ser577=)
c.1826G= (p.Ser609=)
c.1772G= (p.Ser591=)
c.1733G= (p.Ser578=)
18g.33739254G>TCA402176573ASXL3c.1853G>T (p.Ser618Ile)
c.1850G>T (p.Ser617Ile)
c.*974G>T (n.*974G>T)
c.*1509G>T (n.*1509G>T)
c.2062G>T (n.2062G>T)
c.1682G>T (p.Ser561Ile)
c.1730G>T (p.Ser577Ile)
c.1826G>T (p.Ser609Ile)
c.1772G>T (p.Ser591Ile)
c.1733G>T (p.Ser578Ile)
 dbSNP
18g.33739255C>ACA402176579ASXL3c.1854C>A (p.Ser618Arg)
c.1851C>A (p.Ser617Arg)
c.*975C>A (n.*975C>A)
c.*1510C>A (n.*1510C>A)
c.2063C>A (n.2063C>A)
c.1683C>A (p.Ser561Arg)
c.1731C>A (p.Ser577Arg)
c.1827C>A (p.Ser609Arg)
c.1773C>A (p.Ser591Arg)
c.1734C>A (p.Ser578Arg)
18g.33739255C>GCA402176577ASXL3c.1854C>G (p.Ser618Arg)
c.1851C>G (p.Ser617Arg)
c.*975C>G (n.*975C>G)
c.*1510C>G (n.*1510C>G)
c.2063C>G (n.2063C>G)
c.1683C>G (p.Ser561Arg)
c.1731C>G (p.Ser577Arg)
c.1827C>G (p.Ser609Arg)
c.1773C>G (p.Ser591Arg)
c.1734C>G (p.Ser578Arg)
18g.33739255C>TCA503768841ASXL3c.1854C>T (p.Ser618=)
c.1851C>T (p.Ser617=)
c.*975C>T (n.*975C>T)
c.*1510C>T (n.*1510C>T)
c.2063C>T (n.2063C>T)
c.1683C>T (p.Ser561=)
c.1731C>T (p.Ser577=)
c.1827C>T (p.Ser609=)
c.1773C>T (p.Ser591=)
c.1734C>T (p.Ser578=)
18g.33739256C>ACA402176581ASXL3c.1855C>A (p.Pro619Thr)
c.1852C>A (p.Pro618Thr)
c.*976C>A (n.*976C>A)
c.*1511C>A (n.*1511C>A)
c.2064C>A (n.2064C>A)
c.1684C>A (p.Pro562Thr)
c.1732C>A (p.Pro578Thr)
c.1828C>A (p.Pro610Thr)
c.1774C>A (p.Pro592Thr)
c.1735C>A (p.Pro579Thr)
18g.33739256C>GCA402176584ASXL3c.1855C>G (p.Pro619Ala)
c.1852C>G (p.Pro618Ala)
c.*976C>G (n.*976C>G)
c.*1511C>G (n.*1511C>G)
c.2064C>G (n.2064C>G)
c.1684C>G (p.Pro562Ala)
c.1732C>G (p.Pro578Ala)
c.1828C>G (p.Pro610Ala)
c.1774C>G (p.Pro592Ala)
c.1735C>G (p.Pro579Ala)
18g.33739256C>TCA402176586ASXL3c.1855C>T (p.Pro619Ser)
c.1852C>T (p.Pro618Ser)
c.*976C>T (n.*976C>T)
c.*1511C>T (n.*1511C>T)
c.2064C>T (n.2064C>T)
c.1684C>T (p.Pro562Ser)
c.1732C>T (p.Pro578Ser)
c.1828C>T (p.Pro610Ser)
c.1774C>T (p.Pro592Ser)
c.1735C>T (p.Pro579Ser)
18g.33739257C>ACA402176588ASXL3c.1856C>A (p.Pro619Gln)
c.1853C>A (p.Pro618Gln)
c.*977C>A (n.*977C>A)
c.*1512C>A (n.*1512C>A)
c.2065C>A (n.2065C>A)
c.1685C>A (p.Pro562Gln)
c.1733C>A (p.Pro578Gln)
c.1829C>A (p.Pro610Gln)
c.1775C>A (p.Pro592Gln)
c.1736C>A (p.Pro579Gln)
 dbSNP
18g.33739257C=CA2294855888ASXL3c.1856C= (p.Pro619=)
c.1853C= (p.Pro618=)
c.*977C= (n.*977C=)
c.*1512C= (n.*1512C=)
c.2065C= (n.2065C=)
c.1685C= (p.Pro562=)
c.1733C= (p.Pro578=)
c.1829C= (p.Pro610=)
c.1775C= (p.Pro592=)
c.1736C= (p.Pro579=)
18g.33739257C>GCA402176591ASXL3c.1856C>G (p.Pro619Arg)
c.1853C>G (p.Pro618Arg)
c.*977C>G (n.*977C>G)
c.*1512C>G (n.*1512C>G)
c.2065C>G (n.2065C>G)
c.1685C>G (p.Pro562Arg)
c.1733C>G (p.Pro578Arg)
c.1829C>G (p.Pro610Arg)
c.1775C>G (p.Pro592Arg)
c.1736C>G (p.Pro579Arg)
18g.33739257C>TCA402176593ASXL3c.1856C>T (p.Pro619Leu)
c.1853C>T (p.Pro618Leu)
c.*977C>T (n.*977C>T)
c.*1512C>T (n.*1512C>T)
c.2065C>T (n.2065C>T)
c.1685C>T (p.Pro562Leu)
c.1733C>T (p.Pro578Leu)
c.1829C>T (p.Pro610Leu)
c.1775C>T (p.Pro592Leu)
c.1736C>T (p.Pro579Leu)
 ClinVar gnomAD v4
18g.33739258A=CA2294855889ASXL3c.1857A= (p.Pro619=)
c.1854A= (p.Pro618=)
c.*978A= (n.*978A=)
c.*1513A= (n.*1513A=)
c.2066A= (n.2066A=)
c.1686A= (p.Pro562=)
c.1734A= (p.Pro578=)
c.1830A= (p.Pro610=)
c.1776A= (p.Pro592=)
c.1737A= (p.Pro579=)
18g.33739258A>CCA503768846ASXL3c.1857A>C (p.Pro619=)
c.1854A>C (p.Pro618=)
c.*978A>C (n.*978A>C)
c.*1513A>C (n.*1513A>C)
c.2066A>C (n.2066A>C)
c.1686A>C (p.Pro562=)
c.1734A>C (p.Pro578=)
c.1830A>C (p.Pro610=)
c.1776A>C (p.Pro592=)
c.1737A>C (p.Pro579=)
18g.33739258A>GCA503768847ASXL3c.1857A>G (p.Pro619=)
c.1854A>G (p.Pro618=)
c.*978A>G (n.*978A>G)
c.*1513A>G (n.*1513A>G)
c.2066A>G (n.2066A>G)
c.1686A>G (p.Pro562=)
c.1734A>G (p.Pro578=)
c.1830A>G (p.Pro610=)
c.1776A>G (p.Pro592=)
c.1737A>G (p.Pro579=)
18g.33739258A>TCA503768848ASXL3c.1857A>T (p.Pro619=)
c.1854A>T (p.Pro618=)
c.*978A>T (n.*978A>T)
c.*1513A>T (n.*1513A>T)
c.2066A>T (n.2066A>T)
c.1686A>T (p.Pro562=)
c.1734A>T (p.Pro578=)
c.1830A>T (p.Pro610=)
c.1776A>T (p.Pro592=)
c.1737A>T (p.Pro579=)
 dbSNP gnomAD v2 gnomAD v4
18g.33739259G>ACA8933821ASXL3c.1858G>A (p.Glu620Lys)
c.1855G>A (p.Glu619Lys)
c.*979G>A (n.*979G>A)
c.*1514G>A (n.*1514G>A)
c.2067G>A (n.2067G>A)
c.1687G>A (p.Glu563Lys)
c.1735G>A (p.Glu579Lys)
c.1831G>A (p.Glu611Lys)
c.1777G>A (p.Glu593Lys)
c.1738G>A (p.Glu580Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739259G>CCA402176600ASXL3c.1858G>C (p.Glu620Gln)
c.1855G>C (p.Glu619Gln)
c.*979G>C (n.*979G>C)
c.*1514G>C (n.*1514G>C)
c.2067G>C (n.2067G>C)
c.1687G>C (p.Glu563Gln)
c.1735G>C (p.Glu579Gln)
c.1831G>C (p.Glu611Gln)
c.1777G>C (p.Glu593Gln)
c.1738G>C (p.Glu580Gln)
18g.33739259G=CA2294855890ASXL3c.1858G= (p.Glu620=)
c.1855G= (p.Glu619=)
c.*979G= (n.*979G=)
c.*1514G= (n.*1514G=)
c.2067G= (n.2067G=)
c.1687G= (p.Glu563=)
c.1735G= (p.Glu579=)
c.1831G= (p.Glu611=)
c.1777G= (p.Glu593=)
c.1738G= (p.Glu580=)
18g.33739259G>TCA402176598ASXL3c.1858G>T (p.Glu620Ter)
c.1855G>T (p.Glu619Ter)
c.*979G>T (n.*979G>T)
c.*1514G>T (n.*1514G>T)
c.2067G>T (n.2067G>T)
c.1687G>T (p.Glu563Ter)
c.1735G>T (p.Glu579Ter)
c.1831G>T (p.Glu611Ter)
c.1777G>T (p.Glu593Ter)
c.1738G>T (p.Glu580Ter)
18g.33739260A>CCA402176603ASXL3c.1859A>C (p.Glu620Ala)
c.1856A>C (p.Glu619Ala)
c.*980A>C (n.*980A>C)
c.*1515A>C (n.*1515A>C)
c.2068A>C (n.2068A>C)
c.1688A>C (p.Glu563Ala)
c.1736A>C (p.Glu579Ala)
c.1832A>C (p.Glu611Ala)
c.1778A>C (p.Glu593Ala)
c.1739A>C (p.Glu580Ala)
18g.33739260A>GCA402176605ASXL3c.1859A>G (p.Glu620Gly)
c.1856A>G (p.Glu619Gly)
c.*980A>G (n.*980A>G)
c.*1515A>G (n.*1515A>G)
c.2068A>G (n.2068A>G)
c.1688A>G (p.Glu563Gly)
c.1736A>G (p.Glu579Gly)
c.1832A>G (p.Glu611Gly)
c.1778A>G (p.Glu593Gly)
c.1739A>G (p.Glu580Gly)
18g.33739260A>TCA402176607ASXL3c.1859A>T (p.Glu620Val)
c.1856A>T (p.Glu619Val)
c.*980A>T (n.*980A>T)
c.*1515A>T (n.*1515A>T)
c.2068A>T (n.2068A>T)
c.1688A>T (p.Glu563Val)
c.1736A>T (p.Glu579Val)
c.1832A>T (p.Glu611Val)
c.1778A>T (p.Glu593Val)
c.1739A>T (p.Glu580Val)
18g.33739261G>ACA503768854ASXL3c.1860G>A (p.Glu620=)
c.1857G>A (p.Glu619=)
c.*981G>A (n.*981G>A)
c.*1516G>A (n.*1516G>A)
c.2069G>A (n.2069G>A)
c.1689G>A (p.Glu563=)
c.1737G>A (p.Glu579=)
c.1833G>A (p.Glu611=)
c.1779G>A (p.Glu593=)
c.1740G>A (p.Glu580=)
18g.33739261G>CCA8933822ASXL3c.1860G>C (p.Glu620Asp)
c.1857G>C (p.Glu619Asp)
c.*981G>C (n.*981G>C)
c.*1516G>C (n.*1516G>C)
c.2069G>C (n.2069G>C)
c.1689G>C (p.Glu563Asp)
c.1737G>C (p.Glu579Asp)
c.1833G>C (p.Glu611Asp)
c.1779G>C (p.Glu593Asp)
c.1740G>C (p.Glu580Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739261G=CA2294855891ASXL3c.1860G= (p.Glu620=)
c.1857G= (p.Glu619=)
c.*981G= (n.*981G=)
c.*1516G= (n.*1516G=)
c.2069G= (n.2069G=)
c.1689G= (p.Glu563=)
c.1737G= (p.Glu579=)
c.1833G= (p.Glu611=)
c.1779G= (p.Glu593=)
c.1740G= (p.Glu580=)
18g.33739261G>TCA402176609ASXL3c.1860G>T (p.Glu620Asp)
c.1857G>T (p.Glu619Asp)
c.*981G>T (n.*981G>T)
c.*1516G>T (n.*1516G>T)
c.2069G>T (n.2069G>T)
c.1689G>T (p.Glu563Asp)
c.1737G>T (p.Glu579Asp)
c.1833G>T (p.Glu611Asp)
c.1779G>T (p.Glu593Asp)
c.1740G>T (p.Glu580Asp)
18g.33739262G>ACA402176611ASXL3c.1861G>A (p.Gly621Arg)
c.1858G>A (p.Gly620Arg)
c.*982G>A (n.*982G>A)
c.*1517G>A (n.*1517G>A)
c.2070G>A (n.2070G>A)
c.1690G>A (p.Gly564Arg)
c.1738G>A (p.Gly580Arg)
c.1834G>A (p.Gly612Arg)
c.1780G>A (p.Gly594Arg)
c.1741G>A (p.Gly581Arg)
18g.33739262G>CCA402176613ASXL3c.1861G>C (p.Gly621Arg)
c.1858G>C (p.Gly620Arg)
c.*982G>C (n.*982G>C)
c.*1517G>C (n.*1517G>C)
c.2070G>C (n.2070G>C)
c.1690G>C (p.Gly564Arg)
c.1738G>C (p.Gly580Arg)
c.1834G>C (p.Gly612Arg)
c.1780G>C (p.Gly594Arg)
c.1741G>C (p.Gly581Arg)
18g.33739262G>TCA402176619ASXL3c.1861G>T (p.Gly621Ter)
c.1858G>T (p.Gly620Ter)
c.*982G>T (n.*982G>T)
c.*1517G>T (n.*1517G>T)
c.2070G>T (n.2070G>T)
c.1690G>T (p.Gly564Ter)
c.1738G>T (p.Gly580Ter)
c.1834G>T (p.Gly612Ter)
c.1780G>T (p.Gly594Ter)
c.1741G>T (p.Gly581Ter)
18g.33739263G>ACA402176623ASXL3c.1862G>A (p.Gly621Glu)
c.1859G>A (p.Gly620Glu)
c.*983G>A (n.*983G>A)
c.*1518G>A (n.*1518G>A)
c.2071G>A (n.2071G>A)
c.1691G>A (p.Gly564Glu)
c.1739G>A (p.Gly580Glu)
c.1835G>A (p.Gly612Glu)
c.1781G>A (p.Gly594Glu)
c.1742G>A (p.Gly581Glu)
 gnomAD v4 COSMIC COSMIC
18g.33739263G>CCA402176626ASXL3c.1862G>C (p.Gly621Ala)
c.1859G>C (p.Gly620Ala)
c.*983G>C (n.*983G>C)
c.*1518G>C (n.*1518G>C)
c.2071G>C (n.2071G>C)
c.1691G>C (p.Gly564Ala)
c.1739G>C (p.Gly580Ala)
c.1835G>C (p.Gly612Ala)
c.1781G>C (p.Gly594Ala)
c.1742G>C (p.Gly581Ala)
18g.33739263G>TCA402176628ASXL3c.1862G>T (p.Gly621Val)
c.1859G>T (p.Gly620Val)
c.*983G>T (n.*983G>T)
c.*1518G>T (n.*1518G>T)
c.2071G>T (n.2071G>T)
c.1691G>T (p.Gly564Val)
c.1739G>T (p.Gly580Val)
c.1835G>T (p.Gly612Val)
c.1781G>T (p.Gly594Val)
c.1742G>T (p.Gly581Val)
18g.33739264A>CCA503768856ASXL3c.1863A>C (p.Gly621=)
c.1860A>C (p.Gly620=)
c.*984A>C (n.*984A>C)
c.*1519A>C (n.*1519A>C)
c.2072A>C (n.2072A>C)
c.1692A>C (p.Gly564=)
c.1740A>C (p.Gly580=)
c.1836A>C (p.Gly612=)
c.1782A>C (p.Gly594=)
c.1743A>C (p.Gly581=)
18g.33739264A>GCA503768857ASXL3c.1863A>G (p.Gly621=)
c.1860A>G (p.Gly620=)
c.*984A>G (n.*984A>G)
c.*1519A>G (n.*1519A>G)
c.2072A>G (n.2072A>G)
c.1692A>G (p.Gly564=)
c.1740A>G (p.Gly580=)
c.1836A>G (p.Gly612=)
c.1782A>G (p.Gly594=)
c.1743A>G (p.Gly581=)
18g.33739264A>TCA503768858ASXL3c.1863A>T (p.Gly621=)
c.1860A>T (p.Gly620=)
c.*984A>T (n.*984A>T)
c.*1519A>T (n.*1519A>T)
c.2072A>T (n.2072A>T)
c.1692A>T (p.Gly564=)
c.1740A>T (p.Gly580=)
c.1836A>T (p.Gly612=)
c.1782A>T (p.Gly594=)
c.1743A>T (p.Gly581=)
18g.33739265G>ACA402176632ASXL3c.1864G>A (p.Ala622Thr)
c.1861G>A (p.Ala621Thr)
c.*985G>A (n.*985G>A)
c.*1520G>A (n.*1520G>A)
c.2073G>A (n.2073G>A)
c.1693G>A (p.Ala565Thr)
c.1741G>A (p.Ala581Thr)
c.1837G>A (p.Ala613Thr)
c.1783G>A (p.Ala595Thr)
c.1744G>A (p.Ala582Thr)
18g.33739265G>CCA402176630ASXL3c.1864G>C (p.Ala622Pro)
c.1861G>C (p.Ala621Pro)
c.*985G>C (n.*985G>C)
c.*1520G>C (n.*1520G>C)
c.2073G>C (n.2073G>C)
c.1693G>C (p.Ala565Pro)
c.1741G>C (p.Ala581Pro)
c.1837G>C (p.Ala613Pro)
c.1783G>C (p.Ala595Pro)
c.1744G>C (p.Ala582Pro)
18g.33739265G>TCA402176629ASXL3c.1864G>T (p.Ala622Ser)
c.1861G>T (p.Ala621Ser)
c.*985G>T (n.*985G>T)
c.*1520G>T (n.*1520G>T)
c.2073G>T (n.2073G>T)
c.1693G>T (p.Ala565Ser)
c.1741G>T (p.Ala581Ser)
c.1837G>T (p.Ala613Ser)
c.1783G>T (p.Ala595Ser)
c.1744G>T (p.Ala582Ser)
 gnomAD v4
18g.33739266C>ACA402176634ASXL3c.1865C>A (p.Ala622Asp)
c.1862C>A (p.Ala621Asp)
c.*986C>A (n.*986C>A)
c.*1521C>A (n.*1521C>A)
c.2074C>A (n.2074C>A)
c.1694C>A (p.Ala565Asp)
c.1742C>A (p.Ala581Asp)
c.1838C>A (p.Ala613Asp)
c.1784C>A (p.Ala595Asp)
c.1745C>A (p.Ala582Asp)
 gnomAD v4
18g.33739266C=CA2294855892ASXL3c.1865C= (p.Ala622=)
c.1862C= (p.Ala621=)
c.*986C= (n.*986C=)
c.*1521C= (n.*1521C=)
c.2074C= (n.2074C=)
c.1694C= (p.Ala565=)
c.1742C= (p.Ala581=)
c.1838C= (p.Ala613=)
c.1784C= (p.Ala595=)
c.1745C= (p.Ala582=)
18g.33739266C>GCA402176636ASXL3c.1865C>G (p.Ala622Gly)
c.1862C>G (p.Ala621Gly)
c.*986C>G (n.*986C>G)
c.*1521C>G (n.*1521C>G)
c.2074C>G (n.2074C>G)
c.1694C>G (p.Ala565Gly)
c.1742C>G (p.Ala581Gly)
c.1838C>G (p.Ala613Gly)
c.1784C>G (p.Ala595Gly)
c.1745C>G (p.Ala582Gly)
18g.33739266C>TCA8933823ASXL3c.1865C>T (p.Ala622Val)
c.1862C>T (p.Ala621Val)
c.*986C>T (n.*986C>T)
c.*1521C>T (n.*1521C>T)
c.2074C>T (n.2074C>T)
c.1694C>T (p.Ala565Val)
c.1742C>T (p.Ala581Val)
c.1838C>T (p.Ala613Val)
c.1784C>T (p.Ala595Val)
c.1745C>T (p.Ala582Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739267C>ACA503768863ASXL3c.1866C>A (p.Ala622=)
c.1863C>A (p.Ala621=)
c.*987C>A (n.*987C>A)
c.*1522C>A (n.*1522C>A)
c.2075C>A (n.2075C>A)
c.1695C>A (p.Ala565=)
c.1743C>A (p.Ala581=)
c.1839C>A (p.Ala613=)
c.1785C>A (p.Ala595=)
c.1746C>A (p.Ala582=)
18g.33739267C>GCA503768864ASXL3c.1866C>G (p.Ala622=)
c.1863C>G (p.Ala621=)
c.*987C>G (n.*987C>G)
c.*1522C>G (n.*1522C>G)
c.2075C>G (n.2075C>G)
c.1695C>G (p.Ala565=)
c.1743C>G (p.Ala581=)
c.1839C>G (p.Ala613=)
c.1785C>G (p.Ala595=)
c.1746C>G (p.Ala582=)
18g.33739267C>TCA503768865ASXL3c.1866C>T (p.Ala622=)
c.1863C>T (p.Ala621=)
c.*987C>T (n.*987C>T)
c.*1522C>T (n.*1522C>T)
c.2075C>T (n.2075C>T)
c.1695C>T (p.Ala565=)
c.1743C>T (p.Ala581=)
c.1839C>T (p.Ala613=)
c.1785C>T (p.Ala595=)
c.1746C>T (p.Ala582=)
18g.33739268T>ACA402176640ASXL3c.1867T>A (p.Cys623Ser)
c.1864T>A (p.Cys622Ser)
c.*988T>A (n.*988T>A)
c.*1523T>A (n.*1523T>A)
c.2076T>A (n.2076T>A)
c.1696T>A (p.Cys566Ser)
c.1744T>A (p.Cys582Ser)
c.1840T>A (p.Cys614Ser)
c.1786T>A (p.Cys596Ser)
c.1747T>A (p.Cys583Ser)
18g.33739268T>CCA402176641ASXL3c.1867T>C (p.Cys623Arg)
c.1864T>C (p.Cys622Arg)
c.*988T>C (n.*988T>C)
c.*1523T>C (n.*1523T>C)
c.2076T>C (n.2076T>C)
c.1696T>C (p.Cys566Arg)
c.1744T>C (p.Cys582Arg)
c.1840T>C (p.Cys614Arg)
c.1786T>C (p.Cys596Arg)
c.1747T>C (p.Cys583Arg)
18g.33739268T>GCA402176642ASXL3c.1867T>G (p.Cys623Gly)
c.1864T>G (p.Cys622Gly)
c.*988T>G (n.*988T>G)
c.*1523T>G (n.*1523T>G)
c.2076T>G (n.2076T>G)
c.1696T>G (p.Cys566Gly)
c.1744T>G (p.Cys582Gly)
c.1840T>G (p.Cys614Gly)
c.1786T>G (p.Cys596Gly)
c.1747T>G (p.Cys583Gly)
18g.33739268dupCA2573054653ASXL3c.1867dup (p.Cys623LeufsTer25)
c.1864dup (p.Cys622LeufsTer25)
c.*988dup (n.*988dup)
c.*1523dup (n.*1523dup)
c.2076dup (n.2076dup)
c.1696dup (p.Cys566LeufsTer25)
c.1744dup (p.Cys582LeufsTer25)
c.1840dup (p.Cys614LeufsTer25)
c.1786dup (p.Cys596LeufsTer25)
c.1747dup (p.Cys583LeufsTer25)
 ClinVar dbSNP
18g.33739269G>ACA402176648ASXL3c.1868G>A (p.Cys623Tyr)
c.1865G>A (p.Cys622Tyr)
c.*989G>A (n.*989G>A)
c.*1524G>A (n.*1524G>A)
c.2077G>A (n.2077G>A)
c.1697G>A (p.Cys566Tyr)
c.1745G>A (p.Cys582Tyr)
c.1841G>A (p.Cys614Tyr)
c.1787G>A (p.Cys596Tyr)
c.1748G>A (p.Cys583Tyr)
 gnomAD v4 COSMIC COSMIC
18g.33739269G>CCA402176643ASXL3c.1868G>C (p.Cys623Ser)
c.1865G>C (p.Cys622Ser)
c.*989G>C (n.*989G>C)
c.*1524G>C (n.*1524G>C)
c.2077G>C (n.2077G>C)
c.1697G>C (p.Cys566Ser)
c.1745G>C (p.Cys582Ser)
c.1841G>C (p.Cys614Ser)
c.1787G>C (p.Cys596Ser)
c.1748G>C (p.Cys583Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33739269G=CA2294855893ASXL3c.1868G= (p.Cys623=)
c.1865G= (p.Cys622=)
c.*989G= (n.*989G=)
c.*1524G= (n.*1524G=)
c.2077G= (n.2077G=)
c.1697G= (p.Cys566=)
c.1745G= (p.Cys582=)
c.1841G= (p.Cys614=)
c.1787G= (p.Cys596=)
c.1748G= (p.Cys583=)
18g.33739269G>TCA402176645ASXL3c.1868G>T (p.Cys623Phe)
c.1865G>T (p.Cys622Phe)
c.*989G>T (n.*989G>T)
c.*1524G>T (n.*1524G>T)
c.2077G>T (n.2077G>T)
c.1697G>T (p.Cys566Phe)
c.1745G>T (p.Cys582Phe)
c.1841G>T (p.Cys614Phe)
c.1787G>T (p.Cys596Phe)
c.1748G>T (p.Cys583Phe)
18g.33739270T>ACA402176649ASXL3c.1869T>A (p.Cys623Ter)
c.1866T>A (p.Cys622Ter)
c.*990T>A (n.*990T>A)
c.*1525T>A (n.*1525T>A)
c.2078T>A (n.2078T>A)
c.1698T>A (p.Cys566Ter)
c.1746T>A (p.Cys582Ter)
c.1842T>A (p.Cys614Ter)
c.1788T>A (p.Cys596Ter)
c.1749T>A (p.Cys583Ter)
18g.33739270T>CCA503768871ASXL3c.1869T>C (p.Cys623=)
c.1866T>C (p.Cys622=)
c.*990T>C (n.*990T>C)
c.*1525T>C (n.*1525T>C)
c.2078T>C (n.2078T>C)
c.1698T>C (p.Cys566=)
c.1746T>C (p.Cys582=)
c.1842T>C (p.Cys614=)
c.1788T>C (p.Cys596=)
c.1749T>C (p.Cys583=)
18g.33739270T>GCA402176650ASXL3c.1869T>G (p.Cys623Trp)
c.1866T>G (p.Cys622Trp)
c.*990T>G (n.*990T>G)
c.*1525T>G (n.*1525T>G)
c.2078T>G (n.2078T>G)
c.1698T>G (p.Cys566Trp)
c.1746T>G (p.Cys582Trp)
c.1842T>G (p.Cys614Trp)
c.1788T>G (p.Cys596Trp)
c.1749T>G (p.Cys583Trp)
18g.33739271A=CA2294855894ASXL3c.1870A= (p.Thr624=)
c.1867A= (p.Thr623=)
c.*991A= (n.*991A=)
c.*1526A= (n.*1526A=)
c.2079A= (n.2079A=)
c.1699A= (p.Thr567=)
c.1747A= (p.Thr583=)
c.1843A= (p.Thr615=)
c.1789A= (p.Thr597=)
c.1750A= (p.Thr584=)
18g.33739271A>CCA402176652ASXL3c.1870A>C (p.Thr624Pro)
c.1867A>C (p.Thr623Pro)
c.*991A>C (n.*991A>C)
c.*1526A>C (n.*1526A>C)
c.2079A>C (n.2079A>C)
c.1699A>C (p.Thr567Pro)
c.1747A>C (p.Thr583Pro)
c.1843A>C (p.Thr615Pro)
c.1789A>C (p.Thr597Pro)
c.1750A>C (p.Thr584Pro)
 dbSNP
18g.33739271A>GCA402176655ASXL3c.1870A>G (p.Thr624Ala)
c.1867A>G (p.Thr623Ala)
c.*991A>G (n.*991A>G)
c.*1526A>G (n.*1526A>G)
c.2079A>G (n.2079A>G)
c.1699A>G (p.Thr567Ala)
c.1747A>G (p.Thr583Ala)
c.1843A>G (p.Thr615Ala)
c.1789A>G (p.Thr597Ala)
c.1750A>G (p.Thr584Ala)
 gnomAD v4
18g.33739271A>TCA402176657ASXL3c.1870A>T (p.Thr624Ser)
c.1867A>T (p.Thr623Ser)
c.*991A>T (n.*991A>T)
c.*1526A>T (n.*1526A>T)
c.2079A>T (n.2079A>T)
c.1699A>T (p.Thr567Ser)
c.1747A>T (p.Thr583Ser)
c.1843A>T (p.Thr615Ser)
c.1789A>T (p.Thr597Ser)
c.1750A>T (p.Thr584Ser)
 dbSNP gnomAD v4
18g.33739272C>ACA402176665ASXL3c.1871C>A (p.Thr624Asn)
c.1868C>A (p.Thr623Asn)
c.*992C>A (n.*992C>A)
c.*1527C>A (n.*1527C>A)
c.2080C>A (n.2080C>A)
c.1700C>A (p.Thr567Asn)
c.1748C>A (p.Thr583Asn)
c.1844C>A (p.Thr615Asn)
c.1790C>A (p.Thr597Asn)
c.1751C>A (p.Thr584Asn)
18g.33739272C=CA2294855895ASXL3c.1871C= (p.Thr624=)
c.1868C= (p.Thr623=)
c.*992C= (n.*992C=)
c.*1527C= (n.*1527C=)
c.2080C= (n.2080C=)
c.1700C= (p.Thr567=)
c.1748C= (p.Thr583=)
c.1844C= (p.Thr615=)
c.1790C= (p.Thr597=)
c.1751C= (p.Thr584=)
18g.33739272C>GCA8933824ASXL3c.1871C>G (p.Thr624Ser)
c.1868C>G (p.Thr623Ser)
c.*992C>G (n.*992C>G)
c.*1527C>G (n.*1527C>G)
c.2080C>G (n.2080C>G)
c.1700C>G (p.Thr567Ser)
c.1748C>G (p.Thr583Ser)
c.1844C>G (p.Thr615Ser)
c.1790C>G (p.Thr597Ser)
c.1751C>G (p.Thr584Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739272C>TCA297787057ASXL3c.1871C>T (p.Thr624Ile)
c.1868C>T (p.Thr623Ile)
c.*992C>T (n.*992C>T)
c.*1527C>T (n.*1527C>T)
c.2080C>T (n.2080C>T)
c.1700C>T (p.Thr567Ile)
c.1748C>T (p.Thr583Ile)
c.1844C>T (p.Thr615Ile)
c.1790C>T (p.Thr597Ile)
c.1751C>T (p.Thr584Ile)
 dbSNP gnomAD v4
18g.33739273C>ACA503768873ASXL3c.1872C>A (p.Thr624=)
c.1869C>A (p.Thr623=)
c.*993C>A (n.*993C>A)
c.*1528C>A (n.*1528C>A)
c.2081C>A (n.2081C>A)
c.1701C>A (p.Thr567=)
c.1749C>A (p.Thr583=)
c.1845C>A (p.Thr615=)
c.1791C>A (p.Thr597=)
c.1752C>A (p.Thr584=)
18g.33739273C>GCA503768874ASXL3c.1872C>G (p.Thr624=)
c.1869C>G (p.Thr623=)
c.*993C>G (n.*993C>G)
c.*1528C>G (n.*1528C>G)
c.2081C>G (n.2081C>G)
c.1701C>G (p.Thr567=)
c.1749C>G (p.Thr583=)
c.1845C>G (p.Thr615=)
c.1791C>G (p.Thr597=)
c.1752C>G (p.Thr584=)
18g.33739273C>TCA503768875ASXL3c.1872C>T (p.Thr624=)
c.1869C>T (p.Thr623=)
c.*993C>T (n.*993C>T)
c.*1528C>T (n.*1528C>T)
c.2081C>T (n.2081C>T)
c.1701C>T (p.Thr567=)
c.1749C>T (p.Thr583=)
c.1845C>T (p.Thr615=)
c.1791C>T (p.Thr597=)
c.1752C>T (p.Thr584=)
18g.33739274A=CA2294855896ASXL3c.1873A= (p.Ser625=)
c.1870A= (p.Ser624=)
c.*994A= (n.*994A=)
c.*1529A= (n.*1529A=)
c.2082A= (n.2082A=)
c.1702A= (p.Ser568=)
c.1750A= (p.Ser584=)
c.1846A= (p.Ser616=)
c.1792A= (p.Ser598=)
c.1753A= (p.Ser585=)
18g.33739274A>CCA402176667ASXL3c.1873A>C (p.Ser625Arg)
c.1870A>C (p.Ser624Arg)
c.*994A>C (n.*994A>C)
c.*1529A>C (n.*1529A>C)
c.2082A>C (n.2082A>C)
c.1702A>C (p.Ser568Arg)
c.1750A>C (p.Ser584Arg)
c.1846A>C (p.Ser616Arg)
c.1792A>C (p.Ser598Arg)
c.1753A>C (p.Ser585Arg)
18g.33739274A>GCA402176668ASXL3c.1873A>G (p.Ser625Gly)
c.1870A>G (p.Ser624Gly)
c.*994A>G (n.*994A>G)
c.*1529A>G (n.*1529A>G)
c.2082A>G (n.2082A>G)
c.1702A>G (p.Ser568Gly)
c.1750A>G (p.Ser584Gly)
c.1846A>G (p.Ser616Gly)
c.1792A>G (p.Ser598Gly)
c.1753A>G (p.Ser585Gly)
 dbSNP gnomAD v4
18g.33739274A>TCA402176670ASXL3c.1873A>T (p.Ser625Cys)
c.1870A>T (p.Ser624Cys)
c.*994A>T (n.*994A>T)
c.*1529A>T (n.*1529A>T)
c.2082A>T (n.2082A>T)
c.1702A>T (p.Ser568Cys)
c.1750A>T (p.Ser584Cys)
c.1846A>T (p.Ser616Cys)
c.1792A>T (p.Ser598Cys)
c.1753A>T (p.Ser585Cys)
18g.33739275G>ACA402176671ASXL3c.1874G>A (p.Ser625Asn)
c.1871G>A (p.Ser624Asn)
c.*995G>A (n.*995G>A)
c.*1530G>A (n.*1530G>A)
c.2083G>A (n.2083G>A)
c.1703G>A (p.Ser568Asn)
c.1751G>A (p.Ser584Asn)
c.1847G>A (p.Ser616Asn)
c.1793G>A (p.Ser598Asn)
c.1754G>A (p.Ser585Asn)
 dbSNP gnomAD v2
18g.33739275G>CCA402176674ASXL3c.1874G>C (p.Ser625Thr)
c.1871G>C (p.Ser624Thr)
c.*995G>C (n.*995G>C)
c.*1530G>C (n.*1530G>C)
c.2083G>C (n.2083G>C)
c.1703G>C (p.Ser568Thr)
c.1751G>C (p.Ser584Thr)
c.1847G>C (p.Ser616Thr)
c.1793G>C (p.Ser598Thr)
c.1754G>C (p.Ser585Thr)
18g.33739275G=CA2294855897ASXL3c.1874G= (p.Ser625=)
c.1871G= (p.Ser624=)
c.*995G= (n.*995G=)
c.*1530G= (n.*1530G=)
c.2083G= (n.2083G=)
c.1703G= (p.Ser568=)
c.1751G= (p.Ser584=)
c.1847G= (p.Ser616=)
c.1793G= (p.Ser598=)
c.1754G= (p.Ser585=)
18g.33739275G>TCA402176675ASXL3c.1874G>T (p.Ser625Ile)
c.1871G>T (p.Ser624Ile)
c.*995G>T (n.*995G>T)
c.*1530G>T (n.*1530G>T)
c.2083G>T (n.2083G>T)
c.1703G>T (p.Ser568Ile)
c.1751G>T (p.Ser584Ile)
c.1847G>T (p.Ser616Ile)
c.1793G>T (p.Ser598Ile)
c.1754G>T (p.Ser585Ile)
18g.33739276C>ACA8933825ASXL3c.1875C>A (p.Ser625Arg)
c.1872C>A (p.Ser624Arg)
c.*996C>A (n.*996C>A)
c.*1531C>A (n.*1531C>A)
c.2084C>A (n.2084C>A)
c.1704C>A (p.Ser568Arg)
c.1752C>A (p.Ser584Arg)
c.1848C>A (p.Ser616Arg)
c.1794C>A (p.Ser598Arg)
c.1755C>A (p.Ser585Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.33739276C=CA2294855898ASXL3c.1875C= (p.Ser625=)
c.1872C= (p.Ser624=)
c.*996C= (n.*996C=)
c.*1531C= (n.*1531C=)
c.2084C= (n.2084C=)
c.1704C= (p.Ser568=)
c.1752C= (p.Ser584=)
c.1848C= (p.Ser616=)
c.1794C= (p.Ser598=)
c.1755C= (p.Ser585=)
18g.33739276C>GCA402176678ASXL3c.1875C>G (p.Ser625Arg)
c.1872C>G (p.Ser624Arg)
c.*996C>G (n.*996C>G)
c.*1531C>G (n.*1531C>G)
c.2084C>G (n.2084C>G)
c.1704C>G (p.Ser568Arg)
c.1752C>G (p.Ser584Arg)
c.1848C>G (p.Ser616Arg)
c.1794C>G (p.Ser598Arg)
c.1755C>G (p.Ser585Arg)
18g.33739276C>TCA503768878ASXL3c.1875C>T (p.Ser625=)
c.1872C>T (p.Ser624=)
c.*996C>T (n.*996C>T)
c.*1531C>T (n.*1531C>T)
c.2084C>T (n.2084C>T)
c.1704C>T (p.Ser568=)
c.1752C>T (p.Ser584=)
c.1848C>T (p.Ser616=)
c.1794C>T (p.Ser598=)
c.1755C>T (p.Ser585=)
18g.33739277C>ACA402176679ASXL3c.1876C>A (p.Leu626Met)
c.1873C>A (p.Leu625Met)
c.*997C>A (n.*997C>A)
c.*1532C>A (n.*1532C>A)
c.2085C>A (n.2085C>A)
c.1705C>A (p.Leu569Met)
c.1753C>A (p.Leu585Met)
c.1849C>A (p.Leu617Met)
c.1795C>A (p.Leu599Met)
c.1756C>A (p.Leu586Met)
18g.33739277C=CA2294855899ASXL3c.1876C= (p.Leu626=)
c.1873C= (p.Leu625=)
c.*997C= (n.*997C=)
c.*1532C= (n.*1532C=)
c.2085C= (n.2085C=)
c.1705C= (p.Leu569=)
c.1753C= (p.Leu585=)
c.1849C= (p.Leu617=)
c.1795C= (p.Leu599=)
c.1756C= (p.Leu586=)
18g.33739277C>GCA402176680ASXL3c.1876C>G (p.Leu626Val)
c.1873C>G (p.Leu625Val)
c.*997C>G (n.*997C>G)
c.*1532C>G (n.*1532C>G)
c.2085C>G (n.2085C>G)
c.1705C>G (p.Leu569Val)
c.1753C>G (p.Leu585Val)
c.1849C>G (p.Leu617Val)
c.1795C>G (p.Leu599Val)
c.1756C>G (p.Leu586Val)
18g.33739277C>TCA503768882ASXL3c.1876C>T (p.Leu626=)
c.1873C>T (p.Leu625=)
c.*997C>T (n.*997C>T)
c.*1532C>T (n.*1532C>T)
c.2085C>T (n.2085C>T)
c.1705C>T (p.Leu569=)
c.1753C>T (p.Leu585=)
c.1849C>T (p.Leu617=)
c.1795C>T (p.Leu599=)
c.1756C>T (p.Leu586=)
 dbSNP gnomAD v2 COSMIC COSMIC
18g.33739278T>ACA402176681ASXL3c.1877T>A (p.Leu626Gln)
c.1874T>A (p.Leu625Gln)
c.*998T>A (n.*998T>A)
c.*1533T>A (n.*1533T>A)
c.2086T>A (n.2086T>A)
c.1706T>A (p.Leu569Gln)
c.1754T>A (p.Leu585Gln)
c.1850T>A (p.Leu617Gln)
c.1796T>A (p.Leu599Gln)
c.1757T>A (p.Leu586Gln)
18g.33739278T>CCA402176682ASXL3c.1877T>C (p.Leu626Pro)
c.1874T>C (p.Leu625Pro)
c.*998T>C (n.*998T>C)
c.*1533T>C (n.*1533T>C)
c.2086T>C (n.2086T>C)
c.1706T>C (p.Leu569Pro)
c.1754T>C (p.Leu585Pro)
c.1850T>C (p.Leu617Pro)
c.1796T>C (p.Leu599Pro)
c.1757T>C (p.Leu586Pro)
18g.33739278T>GCA402176683ASXL3c.1877T>G (p.Leu626Arg)
c.1874T>G (p.Leu625Arg)
c.*998T>G (n.*998T>G)
c.*1533T>G (n.*1533T>G)
c.2086T>G (n.2086T>G)
c.1706T>G (p.Leu569Arg)
c.1754T>G (p.Leu585Arg)
c.1850T>G (p.Leu617Arg)
c.1796T>G (p.Leu599Arg)
c.1757T>G (p.Leu586Arg)
18g.33739279G>ACA503768885ASXL3c.1878G>A (p.Leu626=)
c.1875G>A (p.Leu625=)
c.*999G>A (n.*999G>A)
c.*1534G>A (n.*1534G>A)
c.2087G>A (n.2087G>A)
c.1707G>A (p.Leu569=)
c.1755G>A (p.Leu585=)
c.1851G>A (p.Leu617=)
c.1797G>A (p.Leu599=)
c.1758G>A (p.Leu586=)
18g.33739279G>CCA503768884ASXL3c.1878G>C (p.Leu626=)
c.1875G>C (p.Leu625=)
c.*999G>C (n.*999G>C)
c.*1534G>C (n.*1534G>C)
c.2087G>C (n.2087G>C)
c.1707G>C (p.Leu569=)
c.1755G>C (p.Leu585=)
c.1851G>C (p.Leu617=)
c.1797G>C (p.Leu599=)
c.1758G>C (p.Leu586=)
18g.33739279G>TCA503768883ASXL3c.1878G>T (p.Leu626=)
c.1875G>T (p.Leu625=)
c.*999G>T (n.*999G>T)
c.*1534G>T (n.*1534G>T)
c.2087G>T (n.2087G>T)
c.1707G>T (p.Leu569=)
c.1755G>T (p.Leu585=)
c.1851G>T (p.Leu617=)
c.1797G>T (p.Leu599=)
c.1758G>T (p.Leu586=)
18g.33739280C>ACA402176686ASXL3c.1879C>A (p.Pro627Thr)
c.1876C>A (p.Pro626Thr)
c.*1000C>A (n.*1000C>A)
c.*1535C>A (n.*1535C>A)
c.2088C>A (n.2088C>A)
c.1708C>A (p.Pro570Thr)
c.1756C>A (p.Pro586Thr)
c.1852C>A (p.Pro618Thr)
c.1798C>A (p.Pro600Thr)
c.1759C>A (p.Pro587Thr)
18g.33739280C=CA2294855900ASXL3c.1879C= (p.Pro627=)
c.1876C= (p.Pro626=)
c.*1000C= (n.*1000C=)
c.*1535C= (n.*1535C=)
c.2088C= (n.2088C=)
c.1708C= (p.Pro570=)
c.1756C= (p.Pro586=)
c.1852C= (p.Pro618=)
c.1798C= (p.Pro600=)
c.1759C= (p.Pro587=)
18g.33739280C>GCA8933826ASXL3c.1879C>G (p.Pro627Ala)
c.1876C>G (p.Pro626Ala)
c.*1000C>G (n.*1000C>G)
c.*1535C>G (n.*1535C>G)
c.2088C>G (n.2088C>G)
c.1708C>G (p.Pro570Ala)
c.1756C>G (p.Pro586Ala)
c.1852C>G (p.Pro618Ala)
c.1798C>G (p.Pro600Ala)
c.1759C>G (p.Pro587Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739280C>TCA402176688ASXL3c.1879C>T (p.Pro627Ser)
c.1876C>T (p.Pro626Ser)
c.*1000C>T (n.*1000C>T)
c.*1535C>T (n.*1535C>T)
c.2088C>T (n.2088C>T)
c.1708C>T (p.Pro570Ser)
c.1756C>T (p.Pro586Ser)
c.1852C>T (p.Pro618Ser)
c.1798C>T (p.Pro600Ser)
c.1759C>T (p.Pro587Ser)
 gnomAD v4
18g.33739281C>ACA402176692ASXL3c.1880C>A (p.Pro627His)
c.1877C>A (p.Pro626His)
c.*1001C>A (n.*1001C>A)
c.*1536C>A (n.*1536C>A)
c.2089C>A (n.2089C>A)
c.1709C>A (p.Pro570His)
c.1757C>A (p.Pro586His)
c.1853C>A (p.Pro618His)
c.1799C>A (p.Pro600His)
c.1760C>A (p.Pro587His)
18g.33739281C>GCA402176694ASXL3c.1880C>G (p.Pro627Arg)
c.1877C>G (p.Pro626Arg)
c.*1001C>G (n.*1001C>G)
c.*1536C>G (n.*1536C>G)
c.2089C>G (n.2089C>G)
c.1709C>G (p.Pro570Arg)
c.1757C>G (p.Pro586Arg)
c.1853C>G (p.Pro618Arg)
c.1799C>G (p.Pro600Arg)
c.1760C>G (p.Pro587Arg)
18g.33739281C>TCA402176695ASXL3c.1880C>T (p.Pro627Leu)
c.1877C>T (p.Pro626Leu)
c.*1001C>T (n.*1001C>T)
c.*1536C>T (n.*1536C>T)
c.2089C>T (n.2089C>T)
c.1709C>T (p.Pro570Leu)
c.1757C>T (p.Pro586Leu)
c.1853C>T (p.Pro618Leu)
c.1799C>T (p.Pro600Leu)
c.1760C>T (p.Pro587Leu)
 gnomAD v4
18g.33739282T>ACA503768887ASXL3c.1881T>A (p.Pro627=)
c.1878T>A (p.Pro626=)
c.*1002T>A (n.*1002T>A)
c.*1537T>A (n.*1537T>A)
c.2090T>A (n.2090T>A)
c.1710T>A (p.Pro570=)
c.1758T>A (p.Pro586=)
c.1854T>A (p.Pro618=)
c.1800T>A (p.Pro600=)
c.1761T>A (p.Pro587=)
18g.33739282T>CCA503768889ASXL3c.1881T>C (p.Pro627=)
c.1878T>C (p.Pro626=)
c.*1002T>C (n.*1002T>C)
c.*1537T>C (n.*1537T>C)
c.2090T>C (n.2090T>C)
c.1710T>C (p.Pro570=)
c.1758T>C (p.Pro586=)
c.1854T>C (p.Pro618=)
c.1800T>C (p.Pro600=)
c.1761T>C (p.Pro587=)
 gnomAD v4
18g.33739282T>GCA503768888ASXL3c.1881T>G (p.Pro627=)
c.1878T>G (p.Pro626=)
c.*1002T>G (n.*1002T>G)
c.*1537T>G (n.*1537T>G)
c.2090T>G (n.2090T>G)
c.1710T>G (p.Pro570=)
c.1758T>G (p.Pro586=)
c.1854T>G (p.Pro618=)
c.1800T>G (p.Pro600=)
c.1761T>G (p.Pro587=)
18g.33739283T>ACA402176702ASXL3c.1882T>A (p.Ser628Thr)
c.1879T>A (p.Ser627Thr)
c.*1003T>A (n.*1003T>A)
c.*1538T>A (n.*1538T>A)
c.2091T>A (n.2091T>A)
c.1711T>A (p.Ser571Thr)
c.1759T>A (p.Ser587Thr)
c.1855T>A (p.Ser619Thr)
c.1801T>A (p.Ser601Thr)
c.1762T>A (p.Ser588Thr)
18g.33739283T>CCA402176707ASXL3c.1882T>C (p.Ser628Pro)
c.1879T>C (p.Ser627Pro)
c.*1003T>C (n.*1003T>C)
c.*1538T>C (n.*1538T>C)
c.2091T>C (n.2091T>C)
c.1711T>C (p.Ser571Pro)
c.1759T>C (p.Ser587Pro)
c.1855T>C (p.Ser619Pro)
c.1801T>C (p.Ser601Pro)
c.1762T>C (p.Ser588Pro)
18g.33739283T>GCA402176713ASXL3c.1882T>G (p.Ser628Ala)
c.1879T>G (p.Ser627Ala)
c.*1003T>G (n.*1003T>G)
c.*1538T>G (n.*1538T>G)
c.2091T>G (n.2091T>G)
c.1711T>G (p.Ser571Ala)
c.1759T>G (p.Ser587Ala)
c.1855T>G (p.Ser619Ala)
c.1801T>G (p.Ser601Ala)
c.1762T>G (p.Ser588Ala)
18g.33739284C>ACA402176716ASXL3c.1883C>A (p.Ser628Tyr)
c.1880C>A (p.Ser627Tyr)
c.*1004C>A (n.*1004C>A)
c.*1539C>A (n.*1539C>A)
c.2092C>A (n.2092C>A)
c.1712C>A (p.Ser571Tyr)
c.1760C>A (p.Ser587Tyr)
c.1856C>A (p.Ser619Tyr)
c.1802C>A (p.Ser601Tyr)
c.1763C>A (p.Ser588Tyr)
18g.33739284C>GCA402176718ASXL3c.1883C>G (p.Ser628Cys)
c.1880C>G (p.Ser627Cys)
c.*1004C>G (n.*1004C>G)
c.*1539C>G (n.*1539C>G)
c.2092C>G (n.2092C>G)
c.1712C>G (p.Ser571Cys)
c.1760C>G (p.Ser587Cys)
c.1856C>G (p.Ser619Cys)
c.1802C>G (p.Ser601Cys)
c.1763C>G (p.Ser588Cys)
18g.33739284C>TCA402176720ASXL3c.1883C>T (p.Ser628Phe)
c.1880C>T (p.Ser627Phe)
c.*1004C>T (n.*1004C>T)
c.*1539C>T (n.*1539C>T)
c.2092C>T (n.2092C>T)
c.1712C>T (p.Ser571Phe)
c.1760C>T (p.Ser587Phe)
c.1856C>T (p.Ser619Phe)
c.1802C>T (p.Ser601Phe)
c.1763C>T (p.Ser588Phe)
 gnomAD v4
18g.33739285delCA2576484113ASXL3c.1884del (p.Pro629GlnfsTer?)
c.1881del (p.Pro628GlnfsTer?)
c.*1005del (n.*1005del)
c.*1540del (n.*1540del)
c.2093del (n.2093del)
c.1713del (p.Pro572GlnfsTer?)
c.1761del (p.Pro588GlnfsTer?)
c.1857del (p.Pro620GlnfsTer?)
c.1803del (p.Pro602GlnfsTer?)
c.1764del (p.Pro589GlnfsTer?)
18g.33739285T>ACA503768893ASXL3c.1884T>A (p.Ser628=)
c.1881T>A (p.Ser627=)
c.*1005T>A (n.*1005T>A)
c.*1540T>A (n.*1540T>A)
c.2093T>A (n.2093T>A)
c.1713T>A (p.Ser571=)
c.1761T>A (p.Ser587=)
c.1857T>A (p.Ser619=)
c.1803T>A (p.Ser601=)
c.1764T>A (p.Ser588=)
18g.33739285T>CCA503768894ASXL3c.1884T>C (p.Ser628=)
c.1881T>C (p.Ser627=)
c.*1005T>C (n.*1005T>C)
c.*1540T>C (n.*1540T>C)
c.2093T>C (n.2093T>C)
c.1713T>C (p.Ser571=)
c.1761T>C (p.Ser587=)
c.1857T>C (p.Ser619=)
c.1803T>C (p.Ser601=)
c.1764T>C (p.Ser588=)
18g.33739285T>GCA503768895ASXL3c.1884T>G (p.Ser628=)
c.1881T>G (p.Ser627=)
c.*1005T>G (n.*1005T>G)
c.*1540T>G (n.*1540T>G)
c.2093T>G (n.2093T>G)
c.1713T>G (p.Ser571=)
c.1761T>G (p.Ser587=)
c.1857T>G (p.Ser619=)
c.1803T>G (p.Ser601=)
c.1764T>G (p.Ser588=)
18g.33739286C>ACA402176722ASXL3c.1885C>A (p.Pro629Thr)
c.1882C>A (p.Pro628Thr)
c.*1006C>A (n.*1006C>A)
c.*1541C>A (n.*1541C>A)
c.2094C>A (n.2094C>A)
c.1714C>A (p.Pro572Thr)
c.1762C>A (p.Pro588Thr)
c.1858C>A (p.Pro620Thr)
c.1804C>A (p.Pro602Thr)
c.1765C>A (p.Pro589Thr)
18g.33739286C=CA2294855901ASXL3c.1885C= (p.Pro629=)
c.1882C= (p.Pro628=)
c.*1006C= (n.*1006C=)
c.*1541C= (n.*1541C=)
c.2094C= (n.2094C=)
c.1714C= (p.Pro572=)
c.1762C= (p.Pro588=)
c.1858C= (p.Pro620=)
c.1804C= (p.Pro602=)
c.1765C= (p.Pro589=)
18g.33739286C>GCA8933827ASXL3c.1885C>G (p.Pro629Ala)
c.1882C>G (p.Pro628Ala)
c.*1006C>G (n.*1006C>G)
c.*1541C>G (n.*1541C>G)
c.2094C>G (n.2094C>G)
c.1714C>G (p.Pro572Ala)
c.1762C>G (p.Pro588Ala)
c.1858C>G (p.Pro620Ala)
c.1804C>G (p.Pro602Ala)
c.1765C>G (p.Pro589Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739286C>TCA402176736ASXL3c.1885C>T (p.Pro629Ser)
c.1882C>T (p.Pro628Ser)
c.*1006C>T (n.*1006C>T)
c.*1541C>T (n.*1541C>T)
c.2094C>T (n.2094C>T)
c.1714C>T (p.Pro572Ser)
c.1762C>T (p.Pro588Ser)
c.1858C>T (p.Pro620Ser)
c.1804C>T (p.Pro602Ser)
c.1765C>T (p.Pro589Ser)
18g.33739287C>ACA402176749ASXL3c.1886C>A (p.Pro629Gln)
c.1883C>A (p.Pro628Gln)
c.*1007C>A (n.*1007C>A)
c.*1542C>A (n.*1542C>A)
c.2095C>A (n.2095C>A)
c.1715C>A (p.Pro572Gln)
c.1763C>A (p.Pro588Gln)
c.1859C>A (p.Pro620Gln)
c.1805C>A (p.Pro602Gln)
c.1766C>A (p.Pro589Gln)
18g.33739287C=CA2294855902ASXL3c.1886C= (p.Pro629=)
c.1883C= (p.Pro628=)
c.*1007C= (n.*1007C=)
c.*1542C= (n.*1542C=)
c.2095C= (n.2095C=)
c.1715C= (p.Pro572=)
c.1763C= (p.Pro588=)
c.1859C= (p.Pro620=)
c.1805C= (p.Pro602=)
c.1766C= (p.Pro589=)
18g.33739287C>GCA402176745ASXL3c.1886C>G (p.Pro629Arg)
c.1883C>G (p.Pro628Arg)
c.*1007C>G (n.*1007C>G)
c.*1542C>G (n.*1542C>G)
c.2095C>G (n.2095C>G)
c.1715C>G (p.Pro572Arg)
c.1763C>G (p.Pro588Arg)
c.1859C>G (p.Pro620Arg)
c.1805C>G (p.Pro602Arg)
c.1766C>G (p.Pro589Arg)
18g.33739287C>TCA8933828ASXL3c.1886C>T (p.Pro629Leu)
c.1883C>T (p.Pro628Leu)
c.*1007C>T (n.*1007C>T)
c.*1542C>T (n.*1542C>T)
c.2095C>T (n.2095C>T)
c.1715C>T (p.Pro572Leu)
c.1763C>T (p.Pro588Leu)
c.1859C>T (p.Pro620Leu)
c.1805C>T (p.Pro602Leu)
c.1766C>T (p.Pro589Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739287_33739289delinsCAGCA2294855903ASXL3c.1886_1888delinsCAG (p.Pro629=)
c.1883_1885delinsCAG (p.Pro628=)
c.*1007_*1009delinsCAG (n.*1007_*1009delinsCAG)
c.*1542_*1544delinsCAG (n.*1542_*1544delinsCAG)
c.2095_2097delinsCAG (n.2095_2097delinsCAG)
c.1715_1717delinsCAG (p.Pro572=)
c.1763_1765delinsCAG (p.Pro588=)
c.1859_1861delinsCAG (p.Pro620=)
c.1805_1807delinsCAG (p.Pro602=)
c.1766_1768delinsCAG (p.Pro589=)
18g.33739288A=CA2294855904ASXL3c.1887A= (p.Pro629=)
c.1884A= (p.Pro628=)
c.*1008A= (n.*1008A=)
c.*1543A= (n.*1543A=)
c.2096A= (n.2096A=)
c.1716A= (p.Pro572=)
c.1764A= (p.Pro588=)
c.1860A= (p.Pro620=)
c.1806A= (p.Pro602=)
c.1767A= (p.Pro589=)
18g.33739288A>CCA503768899ASXL3c.1887A>C (p.Pro629=)
c.1884A>C (p.Pro628=)
c.*1008A>C (n.*1008A>C)
c.*1543A>C (n.*1543A>C)
c.2096A>C (n.2096A>C)
c.1716A>C (p.Pro572=)
c.1764A>C (p.Pro588=)
c.1860A>C (p.Pro620=)
c.1806A>C (p.Pro602=)
c.1767A>C (p.Pro589=)
18g.33739288A>GCA503768900ASXL3c.1887A>G (p.Pro629=)
c.1884A>G (p.Pro628=)
c.*1008A>G (n.*1008A>G)
c.*1543A>G (n.*1543A>G)
c.2096A>G (n.2096A>G)
c.1716A>G (p.Pro572=)
c.1764A>G (p.Pro588=)
c.1860A>G (p.Pro620=)
c.1806A>G (p.Pro602=)
c.1767A>G (p.Pro589=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.33739288A>TCA503768901ASXL3c.1887A>T (p.Pro629=)
c.1884A>T (p.Pro628=)
c.*1008A>T (n.*1008A>T)
c.*1543A>T (n.*1543A>T)
c.2096A>T (n.2096A>T)
c.1716A>T (p.Pro572=)
c.1764A>T (p.Pro588=)
c.1860A>T (p.Pro620=)
c.1806A>T (p.Pro602=)
c.1767A>T (p.Pro589=)
18g.33739288_33739289delCA915951351ASXL3c.1887_1888del (p.Gly630ArgfsTer17)
c.1884_1885del (p.Gly629ArgfsTer17)
c.*1008_*1009del (n.*1008_*1009del)
c.*1543_*1544del (n.*1543_*1544del)
c.2096_2097del (n.2096_2097del)
c.1716_1717del (p.Gly573ArgfsTer17)
c.1764_1765del (p.Gly589ArgfsTer17)
c.1860_1861del (p.Gly621ArgfsTer17)
c.1806_1807del (p.Gly603ArgfsTer17)
c.1767_1768del (p.Gly590ArgfsTer17)
 ClinVar dbSNP
18g.33739289G>ACA402176751ASXL3c.1888G>A (p.Gly630Arg)
c.1885G>A (p.Gly629Arg)
c.*1009G>A (n.*1009G>A)
c.*1544G>A (n.*1544G>A)
c.2097G>A (n.2097G>A)
c.1717G>A (p.Gly573Arg)
c.1765G>A (p.Gly589Arg)
c.1861G>A (p.Gly621Arg)
c.1807G>A (p.Gly603Arg)
c.1768G>A (p.Gly590Arg)
 dbSNP gnomAD v4
18g.33739289G>CCA402176752ASXL3c.1888G>C (p.Gly630Arg)
c.1885G>C (p.Gly629Arg)
c.*1009G>C (n.*1009G>C)
c.*1544G>C (n.*1544G>C)
c.2097G>C (n.2097G>C)
c.1717G>C (p.Gly573Arg)
c.1765G>C (p.Gly589Arg)
c.1861G>C (p.Gly621Arg)
c.1807G>C (p.Gly603Arg)
c.1768G>C (p.Gly590Arg)
18g.33739289G=CA2294855905ASXL3c.1888G= (p.Gly630=)
c.1885G= (p.Gly629=)
c.*1009G= (n.*1009G=)
c.*1544G= (n.*1544G=)
c.2097G= (n.2097G=)
c.1717G= (p.Gly573=)
c.1765G= (p.Gly589=)
c.1861G= (p.Gly621=)
c.1807G= (p.Gly603=)
c.1768G= (p.Gly590=)
18g.33739289G>TCA402176754ASXL3c.1888G>T (p.Gly630Ter)
c.1885G>T (p.Gly629Ter)
c.*1009G>T (n.*1009G>T)
c.*1544G>T (n.*1544G>T)
c.2097G>T (n.2097G>T)
c.1717G>T (p.Gly573Ter)
c.1765G>T (p.Gly589Ter)
c.1861G>T (p.Gly621Ter)
c.1807G>T (p.Gly603Ter)
c.1768G>T (p.Gly590Ter)
18g.33739290G>ACA402176756ASXL3c.1889G>A (p.Gly630Glu)
c.1886G>A (p.Gly629Glu)
c.*1010G>A (n.*1010G>A)
c.*1545G>A (n.*1545G>A)
c.2098G>A (n.2098G>A)
c.1718G>A (p.Gly573Glu)
c.1766G>A (p.Gly589Glu)
c.1862G>A (p.Gly621Glu)
c.1808G>A (p.Gly603Glu)
c.1769G>A (p.Gly590Glu)
 dbSNP
18g.33739290G>CCA402176765ASXL3c.1889G>C (p.Gly630Ala)
c.1886G>C (p.Gly629Ala)
c.*1010G>C (n.*1010G>C)
c.*1545G>C (n.*1545G>C)
c.2098G>C (n.2098G>C)
c.1718G>C (p.Gly573Ala)
c.1766G>C (p.Gly589Ala)
c.1862G>C (p.Gly621Ala)
c.1808G>C (p.Gly603Ala)
c.1769G>C (p.Gly590Ala)
18g.33739290G=CA2294855906ASXL3c.1889G= (p.Gly630=)
c.1886G= (p.Gly629=)
c.*1010G= (n.*1010G=)
c.*1545G= (n.*1545G=)
c.2098G= (n.2098G=)
c.1718G= (p.Gly573=)
c.1766G= (p.Gly589=)
c.1862G= (p.Gly621=)
c.1808G= (p.Gly603=)
c.1769G= (p.Gly590=)
18g.33739290G>TCA402176767ASXL3c.1889G>T (p.Gly630Val)
c.1886G>T (p.Gly629Val)
c.*1010G>T (n.*1010G>T)
c.*1545G>T (n.*1545G>T)
c.2098G>T (n.2098G>T)
c.1718G>T (p.Gly573Val)
c.1766G>T (p.Gly589Val)
c.1862G>T (p.Gly621Val)
c.1808G>T (p.Gly603Val)
c.1769G>T (p.Gly590Val)
18g.33739291A>CCA503768905ASXL3c.1890A>C (p.Gly630=)
c.1887A>C (p.Gly629=)
c.*1011A>C (n.*1011A>C)
c.*1546A>C (n.*1546A>C)
c.2099A>C (n.2099A>C)
c.1719A>C (p.Gly573=)
c.1767A>C (p.Gly589=)
c.1863A>C (p.Gly621=)
c.1809A>C (p.Gly603=)
c.1770A>C (p.Gly590=)
18g.33739291A>GCA503768906ASXL3c.1890A>G (p.Gly630=)
c.1887A>G (p.Gly629=)
c.*1011A>G (n.*1011A>G)
c.*1546A>G (n.*1546A>G)
c.2099A>G (n.2099A>G)
c.1719A>G (p.Gly573=)
c.1767A>G (p.Gly589=)
c.1863A>G (p.Gly621=)
c.1809A>G (p.Gly603=)
c.1770A>G (p.Gly590=)
18g.33739291A>TCA503768907ASXL3c.1890A>T (p.Gly630=)
c.1887A>T (p.Gly629=)
c.*1011A>T (n.*1011A>T)
c.*1546A>T (n.*1546A>T)
c.2099A>T (n.2099A>T)
c.1719A>T (p.Gly573=)
c.1767A>T (p.Gly589=)
c.1863A>T (p.Gly621=)
c.1809A>T (p.Gly603=)
c.1770A>T (p.Gly590=)
18g.33739292G>ACA402176768ASXL3c.1891G>A (p.Gly631Arg)
c.1888G>A (p.Gly630Arg)
c.*1012G>A (n.*1012G>A)
c.*1547G>A (n.*1547G>A)
c.2100G>A (n.2100G>A)
c.1720G>A (p.Gly574Arg)
c.1768G>A (p.Gly590Arg)
c.1864G>A (p.Gly622Arg)
c.1810G>A (p.Gly604Arg)
c.1771G>A (p.Gly591Arg)
18g.33739292G>CCA402176769ASXL3c.1891G>C (p.Gly631Arg)
c.1888G>C (p.Gly630Arg)
c.*1012G>C (n.*1012G>C)
c.*1547G>C (n.*1547G>C)
c.2100G>C (n.2100G>C)
c.1720G>C (p.Gly574Arg)
c.1768G>C (p.Gly590Arg)
c.1864G>C (p.Gly622Arg)
c.1810G>C (p.Gly604Arg)
c.1771G>C (p.Gly591Arg)
18g.33739292G>TCA402176771ASXL3c.1891G>T (p.Gly631Trp)
c.1888G>T (p.Gly630Trp)
c.*1012G>T (n.*1012G>T)
c.*1547G>T (n.*1547G>T)
c.2100G>T (n.2100G>T)
c.1720G>T (p.Gly574Trp)
c.1768G>T (p.Gly590Trp)
c.1864G>T (p.Gly622Trp)
c.1810G>T (p.Gly604Trp)
c.1771G>T (p.Gly591Trp)
18g.33739293G>ACA402176773ASXL3c.1892G>A (p.Gly631Glu)
c.1889G>A (p.Gly630Glu)
c.*1013G>A (n.*1013G>A)
c.*1548G>A (n.*1548G>A)
c.2101G>A (n.2101G>A)
c.1721G>A (p.Gly574Glu)
c.1769G>A (p.Gly590Glu)
c.1865G>A (p.Gly622Glu)
c.1811G>A (p.Gly604Glu)
c.1772G>A (p.Gly591Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.33739293G>CCA402176775ASXL3c.1892G>C (p.Gly631Ala)
c.1889G>C (p.Gly630Ala)
c.*1013G>C (n.*1013G>C)
c.*1548G>C (n.*1548G>C)
c.2101G>C (n.2101G>C)
c.1721G>C (p.Gly574Ala)
c.1769G>C (p.Gly590Ala)
c.1865G>C (p.Gly622Ala)
c.1811G>C (p.Gly604Ala)
c.1772G>C (p.Gly591Ala)
18g.33739293G=CA2294855907ASXL3c.1892G= (p.Gly631=)
c.1889G= (p.Gly630=)
c.*1013G= (n.*1013G=)
c.*1548G= (n.*1548G=)
c.2101G= (n.2101G=)
c.1721G= (p.Gly574=)
c.1769G= (p.Gly590=)
c.1865G= (p.Gly622=)
c.1811G= (p.Gly604=)
c.1772G= (p.Gly591=)
18g.33739293G>TCA402176777ASXL3c.1892G>T (p.Gly631Val)
c.1889G>T (p.Gly630Val)
c.*1013G>T (n.*1013G>T)
c.*1548G>T (n.*1548G>T)
c.2101G>T (n.2101G>T)
c.1721G>T (p.Gly574Val)
c.1769G>T (p.Gly590Val)
c.1865G>T (p.Gly622Val)
c.1811G>T (p.Gly604Val)
c.1772G>T (p.Gly591Val)
 dbSNP
18g.33739294G>ACA8933829ASXL3c.1893G>A (p.Gly631=)
c.1890G>A (p.Gly630=)
c.*1014G>A (n.*1014G>A)
c.*1549G>A (n.*1549G>A)
c.2102G>A (n.2102G>A)
c.1722G>A (p.Gly574=)
c.1770G>A (p.Gly590=)
c.1866G>A (p.Gly622=)
c.1812G>A (p.Gly604=)
c.1773G>A (p.Gly591=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739294G>CCA503768908ASXL3c.1893G>C (p.Gly631=)
c.1890G>C (p.Gly630=)
c.*1014G>C (n.*1014G>C)
c.*1549G>C (n.*1549G>C)
c.2102G>C (n.2102G>C)
c.1722G>C (p.Gly574=)
c.1770G>C (p.Gly590=)
c.1866G>C (p.Gly622=)
c.1812G>C (p.Gly604=)
c.1773G>C (p.Gly591=)
18g.33739294G=CA2294855908ASXL3c.1893G= (p.Gly631=)
c.1890G= (p.Gly630=)
c.*1014G= (n.*1014G=)
c.*1549G= (n.*1549G=)
c.2102G= (n.2102G=)
c.1722G= (p.Gly574=)
c.1770G= (p.Gly590=)
c.1866G= (p.Gly622=)
c.1812G= (p.Gly604=)
c.1773G= (p.Gly591=)
18g.33739294G>TCA503768910ASXL3c.1893G>T (p.Gly631=)
c.1890G>T (p.Gly630=)
c.*1014G>T (n.*1014G>T)
c.*1549G>T (n.*1549G>T)
c.2102G>T (n.2102G>T)
c.1722G>T (p.Gly574=)
c.1770G>T (p.Gly590=)
c.1866G>T (p.Gly622=)
c.1812G>T (p.Gly604=)
c.1773G>T (p.Gly591=)
18g.33739295G>ACA402176782ASXL3c.1894G>A (p.Glu632Lys)
c.1891G>A (p.Glu631Lys)
c.*1015G>A (n.*1015G>A)
c.*1550G>A (n.*1550G>A)
c.2103G>A (n.2103G>A)
c.1723G>A (p.Glu575Lys)
c.1771G>A (p.Glu591Lys)
c.1867G>A (p.Glu623Lys)
c.1813G>A (p.Glu605Lys)
c.1774G>A (p.Glu592Lys)
18g.33739295G>CCA402176781ASXL3c.1894G>C (p.Glu632Gln)
c.1891G>C (p.Glu631Gln)
c.*1015G>C (n.*1015G>C)
c.*1550G>C (n.*1550G>C)
c.2103G>C (n.2103G>C)
c.1723G>C (p.Glu575Gln)
c.1771G>C (p.Glu591Gln)
c.1867G>C (p.Glu623Gln)
c.1813G>C (p.Glu605Gln)
c.1774G>C (p.Glu592Gln)
18g.33739295G>TCA402176783ASXL3c.1894G>T (p.Glu632Ter)
c.1891G>T (p.Glu631Ter)
c.*1015G>T (n.*1015G>T)
c.*1550G>T (n.*1550G>T)
c.2103G>T (n.2103G>T)
c.1723G>T (p.Glu575Ter)
c.1771G>T (p.Glu591Ter)
c.1867G>T (p.Glu623Ter)
c.1813G>T (p.Glu605Ter)
c.1774G>T (p.Glu592Ter)
18g.33739296A=CA2294855909ASXL3c.1895A= (p.Glu632=)
c.1892A= (p.Glu631=)
c.*1016A= (n.*1016A=)
c.*1551A= (n.*1551A=)
c.2104A= (n.2104A=)
c.1724A= (p.Glu575=)
c.1772A= (p.Glu591=)
c.1868A= (p.Glu623=)
c.1814A= (p.Glu605=)
c.1775A= (p.Glu592=)
18g.33739296A>CCA402176785ASXL3c.1895A>C (p.Glu632Ala)
c.1892A>C (p.Glu631Ala)
c.*1016A>C (n.*1016A>C)
c.*1551A>C (n.*1551A>C)
c.2104A>C (n.2104A>C)
c.1724A>C (p.Glu575Ala)
c.1772A>C (p.Glu591Ala)
c.1868A>C (p.Glu623Ala)
c.1814A>C (p.Glu605Ala)
c.1775A>C (p.Glu592Ala)
18g.33739296A>GCA402176788ASXL3c.1895A>G (p.Glu632Gly)
c.1892A>G (p.Glu631Gly)
c.*1016A>G (n.*1016A>G)
c.*1551A>G (n.*1551A>G)
c.2104A>G (n.2104A>G)
c.1724A>G (p.Glu575Gly)
c.1772A>G (p.Glu591Gly)
c.1868A>G (p.Glu623Gly)
c.1814A>G (p.Glu605Gly)
c.1775A>G (p.Glu592Gly)
18g.33739296A>TCA402176787ASXL3c.1895A>T (p.Glu632Val)
c.1892A>T (p.Glu631Val)
c.*1016A>T (n.*1016A>T)
c.*1551A>T (n.*1551A>T)
c.2104A>T (n.2104A>T)
c.1724A>T (p.Glu575Val)
c.1772A>T (p.Glu591Val)
c.1868A>T (p.Glu623Val)
c.1814A>T (p.Glu605Val)
c.1775A>T (p.Glu592Val)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched