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.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.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
18g.33739297A>CCA402176791ASXL3c.1896A>C (p.Glu632Asp)
c.1893A>C (p.Glu631Asp)
c.*1017A>C (n.*1017A>C)
c.*1552A>C (n.*1552A>C)
c.2105A>C (n.2105A>C)
c.1725A>C (p.Glu575Asp)
c.1773A>C (p.Glu591Asp)
c.1869A>C (p.Glu623Asp)
c.1815A>C (p.Glu605Asp)
c.1776A>C (p.Glu592Asp)
18g.33739297A>GCA503768911ASXL3c.1896A>G (p.Glu632=)
c.1893A>G (p.Glu631=)
c.*1017A>G (n.*1017A>G)
c.*1552A>G (n.*1552A>G)
c.2105A>G (n.2105A>G)
c.1725A>G (p.Glu575=)
c.1773A>G (p.Glu591=)
c.1869A>G (p.Glu623=)
c.1815A>G (p.Glu605=)
c.1776A>G (p.Glu592=)
18g.33739297A>TCA402176793ASXL3c.1896A>T (p.Glu632Asp)
c.1893A>T (p.Glu631Asp)
c.*1017A>T (n.*1017A>T)
c.*1552A>T (n.*1552A>T)
c.2105A>T (n.2105A>T)
c.1725A>T (p.Glu575Asp)
c.1773A>T (p.Glu591Asp)
c.1869A>T (p.Glu623Asp)
c.1815A>T (p.Glu605Asp)
c.1776A>T (p.Glu592Asp)
18g.33739298A>CCA402176795ASXL3c.1897A>C (p.Thr633Pro)
c.1894A>C (p.Thr632Pro)
c.*1018A>C (n.*1018A>C)
c.*1553A>C (n.*1553A>C)
c.2106A>C (n.2106A>C)
c.1726A>C (p.Thr576Pro)
c.1774A>C (p.Thr592Pro)
c.1870A>C (p.Thr624Pro)
c.1816A>C (p.Thr606Pro)
c.1777A>C (p.Thr593Pro)
18g.33739298A>GCA402176796ASXL3c.1897A>G (p.Thr633Ala)
c.1894A>G (p.Thr632Ala)
c.*1018A>G (n.*1018A>G)
c.*1553A>G (n.*1553A>G)
c.2106A>G (n.2106A>G)
c.1726A>G (p.Thr576Ala)
c.1774A>G (p.Thr592Ala)
c.1870A>G (p.Thr624Ala)
c.1816A>G (p.Thr606Ala)
c.1777A>G (p.Thr593Ala)
18g.33739298A>TCA402176803ASXL3c.1897A>T (p.Thr633Ser)
c.1894A>T (p.Thr632Ser)
c.*1018A>T (n.*1018A>T)
c.*1553A>T (n.*1553A>T)
c.2106A>T (n.2106A>T)
c.1726A>T (p.Thr576Ser)
c.1774A>T (p.Thr592Ser)
c.1870A>T (p.Thr624Ser)
c.1816A>T (p.Thr606Ser)
c.1777A>T (p.Thr593Ser)
18g.33739301_33739302delCA2580612976ASXL3c.1900_1901del (p.Gln634ValfsTer13)
c.1897_1898del (p.Gln633ValfsTer13)
c.*1021_*1022del (n.*1021_*1022del)
c.*1556_*1557del (n.*1556_*1557del)
c.2109_2110del (n.2109_2110del)
c.1729_1730del (p.Gln577ValfsTer13)
c.1777_1778del (p.Gln593ValfsTer13)
c.1873_1874del (p.Gln625ValfsTer13)
c.1819_1820del (p.Gln607ValfsTer13)
c.1780_1781del (p.Gln594ValfsTer13)
ClinVar
18g.33739299C>ACA402176807ASXL3c.1898C>A (p.Thr633Lys)
c.1895C>A (p.Thr632Lys)
c.*1019C>A (n.*1019C>A)
c.*1554C>A (n.*1554C>A)
c.2107C>A (n.2107C>A)
c.1727C>A (p.Thr576Lys)
c.1775C>A (p.Thr592Lys)
c.1871C>A (p.Thr624Lys)
c.1817C>A (p.Thr606Lys)
c.1778C>A (p.Thr593Lys)
18g.33739299C=CA2294855910ASXL3c.1898C= (p.Thr633=)
c.1895C= (p.Thr632=)
c.*1019C= (n.*1019C=)
c.*1554C= (n.*1554C=)
c.2107C= (n.2107C=)
c.1727C= (p.Thr576=)
c.1775C= (p.Thr592=)
c.1871C= (p.Thr624=)
c.1817C= (p.Thr606=)
c.1778C= (p.Thr593=)
18g.33739299C>GCA402176809ASXL3c.1898C>G (p.Thr633Arg)
c.1895C>G (p.Thr632Arg)
c.*1019C>G (n.*1019C>G)
c.*1554C>G (n.*1554C>G)
c.2107C>G (n.2107C>G)
c.1727C>G (p.Thr576Arg)
c.1775C>G (p.Thr592Arg)
c.1871C>G (p.Thr624Arg)
c.1817C>G (p.Thr606Arg)
c.1778C>G (p.Thr593Arg)
18g.33739299C>TCA8933830ASXL3c.1898C>T (p.Thr633Ile)
c.1895C>T (p.Thr632Ile)
c.*1019C>T (n.*1019C>T)
c.*1554C>T (n.*1554C>T)
c.2107C>T (n.2107C>T)
c.1727C>T (p.Thr576Ile)
c.1775C>T (p.Thr592Ile)
c.1871C>T (p.Thr624Ile)
c.1817C>T (p.Thr606Ile)
c.1778C>T (p.Thr593Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739299dupCA2695227382ASXL3c.1898dup (p.Gln634ThrfsTer14)
c.1895dup (p.Gln633ThrfsTer14)
c.*1019dup (n.*1019dup)
c.*1554dup (n.*1554dup)
c.2107dup (n.2107dup)
c.1727dup (p.Gln577ThrfsTer14)
c.1775dup (p.Gln593ThrfsTer14)
c.1871dup (p.Gln625ThrfsTer14)
c.1817dup (p.Gln607ThrfsTer14)
c.1778dup (p.Gln594ThrfsTer14)
18g.33739300A>CCA503768912ASXL3c.1899A>C (p.Thr633=)
c.1896A>C (p.Thr632=)
c.*1020A>C (n.*1020A>C)
c.*1555A>C (n.*1555A>C)
c.2108A>C (n.2108A>C)
c.1728A>C (p.Thr576=)
c.1776A>C (p.Thr592=)
c.1872A>C (p.Thr624=)
c.1818A>C (p.Thr606=)
c.1779A>C (p.Thr593=)
18g.33739300A>GCA503768914ASXL3c.1899A>G (p.Thr633=)
c.1896A>G (p.Thr632=)
c.*1020A>G (n.*1020A>G)
c.*1555A>G (n.*1555A>G)
c.2108A>G (n.2108A>G)
c.1728A>G (p.Thr576=)
c.1776A>G (p.Thr592=)
c.1872A>G (p.Thr624=)
c.1818A>G (p.Thr606=)
c.1779A>G (p.Thr593=)
gnomAD v4
18g.33739300A>TCA503768913ASXL3c.1899A>T (p.Thr633=)
c.1896A>T (p.Thr632=)
c.*1020A>T (n.*1020A>T)
c.*1555A>T (n.*1555A>T)
c.2108A>T (n.2108A>T)
c.1728A>T (p.Thr576=)
c.1776A>T (p.Thr592=)
c.1872A>T (p.Thr624=)
c.1818A>T (p.Thr606=)
c.1779A>T (p.Thr593=)
18g.33739301C>ACA402176813ASXL3c.1900C>A (p.Gln634Lys)
c.1897C>A (p.Gln633Lys)
c.*1021C>A (n.*1021C>A)
c.*1556C>A (n.*1556C>A)
c.2109C>A (n.2109C>A)
c.1729C>A (p.Gln577Lys)
c.1777C>A (p.Gln593Lys)
c.1873C>A (p.Gln625Lys)
c.1819C>A (p.Gln607Lys)
c.1780C>A (p.Gln594Lys)
18g.33739301C=CA2294855911ASXL3c.1900C= (p.Gln634=)
c.1897C= (p.Gln633=)
c.*1021C= (n.*1021C=)
c.*1556C= (n.*1556C=)
c.2109C= (n.2109C=)
c.1729C= (p.Gln577=)
c.1777C= (p.Gln593=)
c.1873C= (p.Gln625=)
c.1819C= (p.Gln607=)
c.1780C= (p.Gln594=)
18g.33739301C>GCA402176815ASXL3c.1900C>G (p.Gln634Glu)
c.1897C>G (p.Gln633Glu)
c.*1021C>G (n.*1021C>G)
c.*1556C>G (n.*1556C>G)
c.2109C>G (n.2109C>G)
c.1729C>G (p.Gln577Glu)
c.1777C>G (p.Gln593Glu)
c.1873C>G (p.Gln625Glu)
c.1819C>G (p.Gln607Glu)
c.1780C>G (p.Gln594Glu)
dbSNP gnomAD v3 gnomAD v4
18g.33739301C>TCA402176818ASXL3c.1900C>T (p.Gln634Ter)
c.1897C>T (p.Gln633Ter)
c.*1021C>T (n.*1021C>T)
c.*1556C>T (n.*1556C>T)
c.2109C>T (n.2109C>T)
c.1729C>T (p.Gln577Ter)
c.1777C>T (p.Gln593Ter)
c.1873C>T (p.Gln625Ter)
c.1819C>T (p.Gln607Ter)
c.1780C>T (p.Gln594Ter)
18g.33739302A=CA2294855912ASXL3c.1901A= (p.Gln634=)
c.1898A= (p.Gln633=)
c.*1022A= (n.*1022A=)
c.*1557A= (n.*1557A=)
c.2110A= (n.2110A=)
c.1730A= (p.Gln577=)
c.1778A= (p.Gln593=)
c.1874A= (p.Gln625=)
c.1820A= (p.Gln607=)
c.1781A= (p.Gln594=)
18g.33739302A>CCA402176824ASXL3c.1901A>C (p.Gln634Pro)
c.1898A>C (p.Gln633Pro)
c.*1022A>C (n.*1022A>C)
c.*1557A>C (n.*1557A>C)
c.2110A>C (n.2110A>C)
c.1730A>C (p.Gln577Pro)
c.1778A>C (p.Gln593Pro)
c.1874A>C (p.Gln625Pro)
c.1820A>C (p.Gln607Pro)
c.1781A>C (p.Gln594Pro)
18g.33739302A>GCA402176821ASXL3c.1901A>G (p.Gln634Arg)
c.1898A>G (p.Gln633Arg)
c.*1022A>G (n.*1022A>G)
c.*1557A>G (n.*1557A>G)
c.2110A>G (n.2110A>G)
c.1730A>G (p.Gln577Arg)
c.1778A>G (p.Gln593Arg)
c.1874A>G (p.Gln625Arg)
c.1820A>G (p.Gln607Arg)
c.1781A>G (p.Gln594Arg)
18g.33739302A>TCA8933831ASXL3c.1901A>T (p.Gln634Leu)
c.1898A>T (p.Gln633Leu)
c.*1022A>T (n.*1022A>T)
c.*1557A>T (n.*1557A>T)
c.2110A>T (n.2110A>T)
c.1730A>T (p.Gln577Leu)
c.1778A>T (p.Gln593Leu)
c.1874A>T (p.Gln625Leu)
c.1820A>T (p.Gln607Leu)
c.1781A>T (p.Gln594Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739303G>ACA503768915ASXL3c.1902G>A (p.Gln634=)
c.1899G>A (p.Gln633=)
c.*1023G>A (n.*1023G>A)
c.*1558G>A (n.*1558G>A)
c.2111G>A (n.2111G>A)
c.1731G>A (p.Gln577=)
c.1779G>A (p.Gln593=)
c.1875G>A (p.Gln625=)
c.1821G>A (p.Gln607=)
c.1782G>A (p.Gln594=)
dbSNP
18g.33739303G>CCA402176826ASXL3c.1902G>C (p.Gln634His)
c.1899G>C (p.Gln633His)
c.*1023G>C (n.*1023G>C)
c.*1558G>C (n.*1558G>C)
c.2111G>C (n.2111G>C)
c.1731G>C (p.Gln577His)
c.1779G>C (p.Gln593His)
c.1875G>C (p.Gln625His)
c.1821G>C (p.Gln607His)
c.1782G>C (p.Gln594His)
18g.33739303G=CA2294855913ASXL3c.1902G= (p.Gln634=)
c.1899G= (p.Gln633=)
c.*1023G= (n.*1023G=)
c.*1558G= (n.*1558G=)
c.2111G= (n.2111G=)
c.1731G= (p.Gln577=)
c.1779G= (p.Gln593=)
c.1875G= (p.Gln625=)
c.1821G= (p.Gln607=)
c.1782G= (p.Gln594=)
18g.33739303G>TCA402176828ASXL3c.1902G>T (p.Gln634His)
c.1899G>T (p.Gln633His)
c.*1023G>T (n.*1023G>T)
c.*1558G>T (n.*1558G>T)
c.2111G>T (n.2111G>T)
c.1731G>T (p.Gln577His)
c.1779G>T (p.Gln593His)
c.1875G>T (p.Gln625His)
c.1821G>T (p.Gln607His)
c.1782G>T (p.Gln594His)
18g.33739304T>ACA402176832ASXL3c.1903T>A (p.Ser635Thr)
c.1900T>A (p.Ser634Thr)
c.*1024T>A (n.*1024T>A)
c.*1559T>A (n.*1559T>A)
c.2112T>A (n.2112T>A)
c.1732T>A (p.Ser578Thr)
c.1780T>A (p.Ser594Thr)
c.1876T>A (p.Ser626Thr)
c.1822T>A (p.Ser608Thr)
c.1783T>A (p.Ser595Thr)
dbSNP gnomAD v2
18g.33739304T>CCA402176834ASXL3c.1903T>C (p.Ser635Pro)
c.1900T>C (p.Ser634Pro)
c.*1024T>C (n.*1024T>C)
c.*1559T>C (n.*1559T>C)
c.2112T>C (n.2112T>C)
c.1732T>C (p.Ser578Pro)
c.1780T>C (p.Ser594Pro)
c.1876T>C (p.Ser626Pro)
c.1822T>C (p.Ser608Pro)
c.1783T>C (p.Ser595Pro)
dbSNP gnomAD v2 gnomAD v4
18g.33739304T>GCA402176836ASXL3c.1903T>G (p.Ser635Ala)
c.1900T>G (p.Ser634Ala)
c.*1024T>G (n.*1024T>G)
c.*1559T>G (n.*1559T>G)
c.2112T>G (n.2112T>G)
c.1732T>G (p.Ser578Ala)
c.1780T>G (p.Ser594Ala)
c.1876T>G (p.Ser626Ala)
c.1822T>G (p.Ser608Ala)
c.1783T>G (p.Ser595Ala)
18g.33739304T=CA2294855914ASXL3c.1903T= (p.Ser635=)
c.1900T= (p.Ser634=)
c.*1024T= (n.*1024T=)
c.*1559T= (n.*1559T=)
c.2112T= (n.2112T=)
c.1732T= (p.Ser578=)
c.1780T= (p.Ser594=)
c.1876T= (p.Ser626=)
c.1822T= (p.Ser608=)
c.1783T= (p.Ser595=)
18g.33739305C>ACA402176839ASXL3c.1904C>A (p.Ser635Tyr)
c.1901C>A (p.Ser634Tyr)
c.*1025C>A (n.*1025C>A)
c.*1560C>A (n.*1560C>A)
c.2113C>A (n.2113C>A)
c.1733C>A (p.Ser578Tyr)
c.1781C>A (p.Ser594Tyr)
c.1877C>A (p.Ser626Tyr)
c.1823C>A (p.Ser608Tyr)
c.1784C>A (p.Ser595Tyr)
18g.33739305C>GCA402176841ASXL3c.1904C>G (p.Ser635Cys)
c.1901C>G (p.Ser634Cys)
c.*1025C>G (n.*1025C>G)
c.*1560C>G (n.*1560C>G)
c.2113C>G (n.2113C>G)
c.1733C>G (p.Ser578Cys)
c.1781C>G (p.Ser594Cys)
c.1877C>G (p.Ser626Cys)
c.1823C>G (p.Ser608Cys)
c.1784C>G (p.Ser595Cys)
18g.33739305C>TCA402176844ASXL3c.1904C>T (p.Ser635Phe)
c.1901C>T (p.Ser634Phe)
c.*1025C>T (n.*1025C>T)
c.*1560C>T (n.*1560C>T)
c.2113C>T (n.2113C>T)
c.1733C>T (p.Ser578Phe)
c.1781C>T (p.Ser594Phe)
c.1877C>T (p.Ser626Phe)
c.1823C>T (p.Ser608Phe)
c.1784C>T (p.Ser595Phe)
18g.33739306C>ACA503768916ASXL3c.1905C>A (p.Ser635=)
c.1902C>A (p.Ser634=)
c.*1026C>A (n.*1026C>A)
c.*1561C>A (n.*1561C>A)
c.2114C>A (n.2114C>A)
c.1734C>A (p.Ser578=)
c.1782C>A (p.Ser594=)
c.1878C>A (p.Ser626=)
c.1824C>A (p.Ser608=)
c.1785C>A (p.Ser595=)
dbSNP gnomAD v2 gnomAD v4
18g.33739306C=CA2294855915ASXL3c.1905C= (p.Ser635=)
c.1902C= (p.Ser634=)
c.*1026C= (n.*1026C=)
c.*1561C= (n.*1561C=)
c.2114C= (n.2114C=)
c.1734C= (p.Ser578=)
c.1782C= (p.Ser594=)
c.1878C= (p.Ser626=)
c.1824C= (p.Ser608=)
c.1785C= (p.Ser595=)
18g.33739306C>GCA503768917ASXL3c.1905C>G (p.Ser635=)
c.1902C>G (p.Ser634=)
c.*1026C>G (n.*1026C>G)
c.*1561C>G (n.*1561C>G)
c.2114C>G (n.2114C>G)
c.1734C>G (p.Ser578=)
c.1782C>G (p.Ser594=)
c.1878C>G (p.Ser626=)
c.1824C>G (p.Ser608=)
c.1785C>G (p.Ser595=)
gnomAD v4
18g.33739306C>TCA503768918ASXL3c.1905C>T (p.Ser635=)
c.1902C>T (p.Ser634=)
c.*1026C>T (n.*1026C>T)
c.*1561C>T (n.*1561C>T)
c.2114C>T (n.2114C>T)
c.1734C>T (p.Ser578=)
c.1782C>T (p.Ser594=)
c.1878C>T (p.Ser626=)
c.1824C>T (p.Ser608=)
c.1785C>T (p.Ser595=)
COSMIC COSMIC
18g.33739307A>CCA402176847ASXL3c.1906A>C (p.Thr636Pro)
c.1903A>C (p.Thr635Pro)
c.*1027A>C (n.*1027A>C)
c.*1562A>C (n.*1562A>C)
c.2115A>C (n.2115A>C)
c.1735A>C (p.Thr579Pro)
c.1783A>C (p.Thr595Pro)
c.1879A>C (p.Thr627Pro)
c.1825A>C (p.Thr609Pro)
c.1786A>C (p.Thr596Pro)
ClinVar
18g.33739307A>GCA402176848ASXL3c.1906A>G (p.Thr636Ala)
c.1903A>G (p.Thr635Ala)
c.*1027A>G (n.*1027A>G)
c.*1562A>G (n.*1562A>G)
c.2115A>G (n.2115A>G)
c.1735A>G (p.Thr579Ala)
c.1783A>G (p.Thr595Ala)
c.1879A>G (p.Thr627Ala)
c.1825A>G (p.Thr609Ala)
c.1786A>G (p.Thr596Ala)
gnomAD v4
18g.33739307A>TCA402176849ASXL3c.1906A>T (p.Thr636Ser)
c.1903A>T (p.Thr635Ser)
c.*1027A>T (n.*1027A>T)
c.*1562A>T (n.*1562A>T)
c.2115A>T (n.2115A>T)
c.1735A>T (p.Thr579Ser)
c.1783A>T (p.Thr595Ser)
c.1879A>T (p.Thr627Ser)
c.1825A>T (p.Thr609Ser)
c.1786A>T (p.Thr596Ser)
18g.33739308C>ACA402176851ASXL3c.1907C>A (p.Thr636Lys)
c.1904C>A (p.Thr635Lys)
c.*1028C>A (n.*1028C>A)
c.*1563C>A (n.*1563C>A)
c.2116C>A (n.2116C>A)
c.1736C>A (p.Thr579Lys)
c.1784C>A (p.Thr595Lys)
c.1880C>A (p.Thr627Lys)
c.1826C>A (p.Thr609Lys)
c.1787C>A (p.Thr596Lys)
18g.33739308C=CA2294855916ASXL3c.1907C= (p.Thr636=)
c.1904C= (p.Thr635=)
c.*1028C= (n.*1028C=)
c.*1563C= (n.*1563C=)
c.2116C= (n.2116C=)
c.1736C= (p.Thr579=)
c.1784C= (p.Thr595=)
c.1880C= (p.Thr627=)
c.1826C= (p.Thr609=)
c.1787C= (p.Thr596=)
18g.33739308C>GCA402176852ASXL3c.1907C>G (p.Thr636Arg)
c.1904C>G (p.Thr635Arg)
c.*1028C>G (n.*1028C>G)
c.*1563C>G (n.*1563C>G)
c.2116C>G (n.2116C>G)
c.1736C>G (p.Thr579Arg)
c.1784C>G (p.Thr595Arg)
c.1880C>G (p.Thr627Arg)
c.1826C>G (p.Thr609Arg)
c.1787C>G (p.Thr596Arg)
18g.33739308C>TCA8933832ASXL3c.1907C>T (p.Thr636Ile)
c.1904C>T (p.Thr635Ile)
c.*1028C>T (n.*1028C>T)
c.*1563C>T (n.*1563C>T)
c.2116C>T (n.2116C>T)
c.1736C>T (p.Thr579Ile)
c.1784C>T (p.Thr595Ile)
c.1880C>T (p.Thr627Ile)
c.1826C>T (p.Thr609Ile)
c.1787C>T (p.Thr596Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739309A>CCA503768920ASXL3c.1908A>C (p.Thr636=)
c.1905A>C (p.Thr635=)
c.*1029A>C (n.*1029A>C)
c.*1564A>C (n.*1564A>C)
c.2117A>C (n.2117A>C)
c.1737A>C (p.Thr579=)
c.1785A>C (p.Thr595=)
c.1881A>C (p.Thr627=)
c.1827A>C (p.Thr609=)
c.1788A>C (p.Thr596=)
18g.33739309A>GCA503768922ASXL3c.1908A>G (p.Thr636=)
c.1905A>G (p.Thr635=)
c.*1029A>G (n.*1029A>G)
c.*1564A>G (n.*1564A>G)
c.2117A>G (n.2117A>G)
c.1737A>G (p.Thr579=)
c.1785A>G (p.Thr595=)
c.1881A>G (p.Thr627=)
c.1827A>G (p.Thr609=)
c.1788A>G (p.Thr596=)
18g.33739309A>TCA503768919ASXL3c.1908A>T (p.Thr636=)
c.1905A>T (p.Thr635=)
c.*1029A>T (n.*1029A>T)
c.*1564A>T (n.*1564A>T)
c.2117A>T (n.2117A>T)
c.1737A>T (p.Thr579=)
c.1785A>T (p.Thr595=)
c.1881A>T (p.Thr627=)
c.1827A>T (p.Thr609=)
c.1788A>T (p.Thr596=)
18g.33739310T>ACA402176853ASXL3c.1909T>A (p.Ser637Thr)
c.1906T>A (p.Ser636Thr)
c.*1030T>A (n.*1030T>A)
c.*1565T>A (n.*1565T>A)
c.2118T>A (n.2118T>A)
c.1738T>A (p.Ser580Thr)
c.1786T>A (p.Ser596Thr)
c.1882T>A (p.Ser628Thr)
c.1828T>A (p.Ser610Thr)
c.1789T>A (p.Ser597Thr)
18g.33739310T>CCA402176854ASXL3c.1909T>C (p.Ser637Pro)
c.1906T>C (p.Ser636Pro)
c.*1030T>C (n.*1030T>C)
c.*1565T>C (n.*1565T>C)
c.2118T>C (n.2118T>C)
c.1738T>C (p.Ser580Pro)
c.1786T>C (p.Ser596Pro)
c.1882T>C (p.Ser628Pro)
c.1828T>C (p.Ser610Pro)
c.1789T>C (p.Ser597Pro)
18g.33739310T>GCA402176855ASXL3c.1909T>G (p.Ser637Ala)
c.1906T>G (p.Ser636Ala)
c.*1030T>G (n.*1030T>G)
c.*1565T>G (n.*1565T>G)
c.2118T>G (n.2118T>G)
c.1738T>G (p.Ser580Ala)
c.1786T>G (p.Ser596Ala)
c.1882T>G (p.Ser628Ala)
c.1828T>G (p.Ser610Ala)
c.1789T>G (p.Ser597Ala)
18g.33739311C>ACA402176856ASXL3c.1910C>A (p.Ser637Ter)
c.1907C>A (p.Ser636Ter)
c.*1031C>A (n.*1031C>A)
c.*1566C>A (n.*1566C>A)
c.2119C>A (n.2119C>A)
c.1739C>A (p.Ser580Ter)
c.1787C>A (p.Ser596Ter)
c.1883C>A (p.Ser628Ter)
c.1829C>A (p.Ser610Ter)
c.1790C>A (p.Ser597Ter)
18g.33739311C=CA2294855917ASXL3c.1910C= (p.Ser637=)
c.1907C= (p.Ser636=)
c.*1031C= (n.*1031C=)
c.*1566C= (n.*1566C=)
c.2119C= (n.2119C=)
c.1739C= (p.Ser580=)
c.1787C= (p.Ser596=)
c.1883C= (p.Ser628=)
c.1829C= (p.Ser610=)
c.1790C= (p.Ser597=)
18g.33739311C>GCA402176857ASXL3c.1910C>G (p.Ser637Ter)
c.1907C>G (p.Ser636Ter)
c.*1031C>G (n.*1031C>G)
c.*1566C>G (n.*1566C>G)
c.2119C>G (n.2119C>G)
c.1739C>G (p.Ser580Ter)
c.1787C>G (p.Ser596Ter)
c.1883C>G (p.Ser628Ter)
c.1829C>G (p.Ser610Ter)
c.1790C>G (p.Ser597Ter)
18g.33739311C>TCA402176858ASXL3c.1910C>T (p.Ser637Leu)
c.1907C>T (p.Ser636Leu)
c.*1031C>T (n.*1031C>T)
c.*1566C>T (n.*1566C>T)
c.2119C>T (n.2119C>T)
c.1739C>T (p.Ser580Leu)
c.1787C>T (p.Ser596Leu)
c.1883C>T (p.Ser628Leu)
c.1829C>T (p.Ser610Leu)
c.1790C>T (p.Ser597Leu)
dbSNP gnomAD v3 gnomAD v4
18g.33739312A>CCA503768924ASXL3c.1911A>C (p.Ser637=)
c.1908A>C (p.Ser636=)
c.*1032A>C (n.*1032A>C)
c.*1567A>C (n.*1567A>C)
c.2120A>C (n.2120A>C)
c.1740A>C (p.Ser580=)
c.1788A>C (p.Ser596=)
c.1884A>C (p.Ser628=)
c.1830A>C (p.Ser610=)
c.1791A>C (p.Ser597=)
18g.33739312A>GCA503768925ASXL3c.1911A>G (p.Ser637=)
c.1908A>G (p.Ser636=)
c.*1032A>G (n.*1032A>G)
c.*1567A>G (n.*1567A>G)
c.2120A>G (n.2120A>G)
c.1740A>G (p.Ser580=)
c.1788A>G (p.Ser596=)
c.1884A>G (p.Ser628=)
c.1830A>G (p.Ser610=)
c.1791A>G (p.Ser597=)
gnomAD v4
18g.33739312A>TCA503768926ASXL3c.1911A>T (p.Ser637=)
c.1908A>T (p.Ser636=)
c.*1032A>T (n.*1032A>T)
c.*1567A>T (n.*1567A>T)
c.2120A>T (n.2120A>T)
c.1740A>T (p.Ser580=)
c.1788A>T (p.Ser596=)
c.1884A>T (p.Ser628=)
c.1830A>T (p.Ser610=)
c.1791A>T (p.Ser597=)
18g.33739313G>ACA402176861ASXL3c.1912G>A (p.Glu638Lys)
c.1909G>A (p.Glu637Lys)
c.*1033G>A (n.*1033G>A)
c.*1568G>A (n.*1568G>A)
c.2121G>A (n.2121G>A)
c.1741G>A (p.Glu581Lys)
c.1789G>A (p.Glu597Lys)
c.1885G>A (p.Glu629Lys)
c.1831G>A (p.Glu611Lys)
c.1792G>A (p.Glu598Lys)
18g.33739313G>CCA402176859ASXL3c.1912G>C (p.Glu638Gln)
c.1909G>C (p.Glu637Gln)
c.*1033G>C (n.*1033G>C)
c.*1568G>C (n.*1568G>C)
c.2121G>C (n.2121G>C)
c.1741G>C (p.Glu581Gln)
c.1789G>C (p.Glu597Gln)
c.1885G>C (p.Glu629Gln)
c.1831G>C (p.Glu611Gln)
c.1792G>C (p.Glu598Gln)
dbSNP gnomAD v3 gnomAD v4
18g.33739313G=CA2294855918ASXL3c.1912G= (p.Glu638=)
c.1909G= (p.Glu637=)
c.*1033G= (n.*1033G=)
c.*1568G= (n.*1568G=)
c.2121G= (n.2121G=)
c.1741G= (p.Glu581=)
c.1789G= (p.Glu597=)
c.1885G= (p.Glu629=)
c.1831G= (p.Glu611=)
c.1792G= (p.Glu598=)
18g.33739313G>TCA402176860ASXL3c.1912G>T (p.Glu638Ter)
c.1909G>T (p.Glu637Ter)
c.*1033G>T (n.*1033G>T)
c.*1568G>T (n.*1568G>T)
c.2121G>T (n.2121G>T)
c.1741G>T (p.Glu581Ter)
c.1789G>T (p.Glu597Ter)
c.1885G>T (p.Glu629Ter)
c.1831G>T (p.Glu611Ter)
c.1792G>T (p.Glu598Ter)
18g.33739314A>CCA402176862ASXL3c.1913A>C (p.Glu638Ala)
c.1910A>C (p.Glu637Ala)
c.*1034A>C (n.*1034A>C)
c.*1569A>C (n.*1569A>C)
c.2122A>C (n.2122A>C)
c.1742A>C (p.Glu581Ala)
c.1790A>C (p.Glu597Ala)
c.1886A>C (p.Glu629Ala)
c.1832A>C (p.Glu611Ala)
c.1793A>C (p.Glu598Ala)
gnomAD v4
18g.33739314A>GCA402176863ASXL3c.1913A>G (p.Glu638Gly)
c.1910A>G (p.Glu637Gly)
c.*1034A>G (n.*1034A>G)
c.*1569A>G (n.*1569A>G)
c.2122A>G (n.2122A>G)
c.1742A>G (p.Glu581Gly)
c.1790A>G (p.Glu597Gly)
c.1886A>G (p.Glu629Gly)
c.1832A>G (p.Glu611Gly)
c.1793A>G (p.Glu598Gly)
18g.33739314A>TCA402176864ASXL3c.1913A>T (p.Glu638Val)
c.1910A>T (p.Glu637Val)
c.*1034A>T (n.*1034A>T)
c.*1569A>T (n.*1569A>T)
c.2122A>T (n.2122A>T)
c.1742A>T (p.Glu581Val)
c.1790A>T (p.Glu597Val)
c.1886A>T (p.Glu629Val)
c.1832A>T (p.Glu611Val)
c.1793A>T (p.Glu598Val)
18g.33739315A>CCA402176865ASXL3c.1914A>C (p.Glu638Asp)
c.1911A>C (p.Glu637Asp)
c.*1035A>C (n.*1035A>C)
c.*1570A>C (n.*1570A>C)
c.2123A>C (n.2123A>C)
c.1743A>C (p.Glu581Asp)
c.1791A>C (p.Glu597Asp)
c.1887A>C (p.Glu629Asp)
c.1833A>C (p.Glu611Asp)
c.1794A>C (p.Glu598Asp)
18g.33739315A>GCA503768928ASXL3c.1914A>G (p.Glu638=)
c.1911A>G (p.Glu637=)
c.*1035A>G (n.*1035A>G)
c.*1570A>G (n.*1570A>G)
c.2123A>G (n.2123A>G)
c.1743A>G (p.Glu581=)
c.1791A>G (p.Glu597=)
c.1887A>G (p.Glu629=)
c.1833A>G (p.Glu611=)
c.1794A>G (p.Glu598=)
gnomAD v4
18g.33739315A>TCA402176866ASXL3c.1914A>T (p.Glu638Asp)
c.1911A>T (p.Glu637Asp)
c.*1035A>T (n.*1035A>T)
c.*1570A>T (n.*1570A>T)
c.2123A>T (n.2123A>T)
c.1743A>T (p.Glu581Asp)
c.1791A>T (p.Glu597Asp)
c.1887A>T (p.Glu629Asp)
c.1833A>T (p.Glu611Asp)
c.1794A>T (p.Glu598Asp)
18g.33739316G>ACA402176867ASXL3c.1915G>A (p.Glu639Lys)
c.1912G>A (p.Glu638Lys)
c.*1036G>A (n.*1036G>A)
c.*1571G>A (n.*1571G>A)
c.2124G>A (n.2124G>A)
c.1744G>A (p.Glu582Lys)
c.1792G>A (p.Glu598Lys)
c.1888G>A (p.Glu630Lys)
c.1834G>A (p.Glu612Lys)
c.1795G>A (p.Glu599Lys)
gnomAD v4
18g.33739316G>CCA402176869ASXL3c.1915G>C (p.Glu639Gln)
c.1912G>C (p.Glu638Gln)
c.*1036G>C (n.*1036G>C)
c.*1571G>C (n.*1571G>C)
c.2124G>C (n.2124G>C)
c.1744G>C (p.Glu582Gln)
c.1792G>C (p.Glu598Gln)
c.1888G>C (p.Glu630Gln)
c.1834G>C (p.Glu612Gln)
c.1795G>C (p.Glu599Gln)
18g.33739316G>TCA402176868ASXL3c.1915G>T (p.Glu639Ter)
c.1912G>T (p.Glu638Ter)
c.*1036G>T (n.*1036G>T)
c.*1571G>T (n.*1571G>T)
c.2124G>T (n.2124G>T)
c.1744G>T (p.Glu582Ter)
c.1792G>T (p.Glu598Ter)
c.1888G>T (p.Glu630Ter)
c.1834G>T (p.Glu612Ter)
c.1795G>T (p.Glu599Ter)
18g.33739317A>CCA402176870ASXL3c.1916A>C (p.Glu639Ala)
c.1913A>C (p.Glu638Ala)
c.*1037A>C (n.*1037A>C)
c.*1572A>C (n.*1572A>C)
c.2125A>C (n.2125A>C)
c.1745A>C (p.Glu582Ala)
c.1793A>C (p.Glu598Ala)
c.1889A>C (p.Glu630Ala)
c.1835A>C (p.Glu612Ala)
c.1796A>C (p.Glu599Ala)
18g.33739317A>GCA402176871ASXL3c.1916A>G (p.Glu639Gly)
c.1913A>G (p.Glu638Gly)
c.*1037A>G (n.*1037A>G)
c.*1572A>G (n.*1572A>G)
c.2125A>G (n.2125A>G)
c.1745A>G (p.Glu582Gly)
c.1793A>G (p.Glu598Gly)
c.1889A>G (p.Glu630Gly)
c.1835A>G (p.Glu612Gly)
c.1796A>G (p.Glu599Gly)
18g.33739317A>TCA402176872ASXL3c.1916A>T (p.Glu639Val)
c.1913A>T (p.Glu638Val)
c.*1037A>T (n.*1037A>T)
c.*1572A>T (n.*1572A>T)
c.2125A>T (n.2125A>T)
c.1745A>T (p.Glu582Val)
c.1793A>T (p.Glu598Val)
c.1889A>T (p.Glu630Val)
c.1835A>T (p.Glu612Val)
c.1796A>T (p.Glu599Val)
18g.33739318A=CA2294855919ASXL3c.1917A= (p.Glu639=)
c.1914A= (p.Glu638=)
c.*1038A= (n.*1038A=)
c.*1573A= (n.*1573A=)
c.2126A= (n.2126A=)
c.1746A= (p.Glu582=)
c.1794A= (p.Glu598=)
c.1890A= (p.Glu630=)
c.1836A= (p.Glu612=)
c.1797A= (p.Glu599=)
18g.33739318A>CCA402176873ASXL3c.1917A>C (p.Glu639Asp)
c.1914A>C (p.Glu638Asp)
c.*1038A>C (n.*1038A>C)
c.*1573A>C (n.*1573A>C)
c.2126A>C (n.2126A>C)
c.1746A>C (p.Glu582Asp)
c.1794A>C (p.Glu598Asp)
c.1890A>C (p.Glu630Asp)
c.1836A>C (p.Glu612Asp)
c.1797A>C (p.Glu599Asp)
18g.33739318A>GCA8933833ASXL3c.1917A>G (p.Glu639=)
c.1914A>G (p.Glu638=)
c.*1038A>G (n.*1038A>G)
c.*1573A>G (n.*1573A>G)
c.2126A>G (n.2126A>G)
c.1746A>G (p.Glu582=)
c.1794A>G (p.Glu598=)
c.1890A>G (p.Glu630=)
c.1836A>G (p.Glu612=)
c.1797A>G (p.Glu599=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739318A>TCA402176874ASXL3c.1917A>T (p.Glu639Asp)
c.1914A>T (p.Glu638Asp)
c.*1038A>T (n.*1038A>T)
c.*1573A>T (n.*1573A>T)
c.2126A>T (n.2126A>T)
c.1746A>T (p.Glu582Asp)
c.1794A>T (p.Glu598Asp)
c.1890A>T (p.Glu630Asp)
c.1836A>T (p.Glu612Asp)
c.1797A>T (p.Glu599Asp)
18g.33739319T>ACA402176875ASXL3c.1918T>A (p.Ser640Thr)
c.1915T>A (p.Ser639Thr)
c.*1039T>A (n.*1039T>A)
c.*1574T>A (n.*1574T>A)
c.2127T>A (n.2127T>A)
c.1747T>A (p.Ser583Thr)
c.1795T>A (p.Ser599Thr)
c.1891T>A (p.Ser631Thr)
c.1837T>A (p.Ser613Thr)
c.1798T>A (p.Ser600Thr)
gnomAD v4
18g.33739319T>CCA402176876ASXL3c.1918T>C (p.Ser640Pro)
c.1915T>C (p.Ser639Pro)
c.*1039T>C (n.*1039T>C)
c.*1574T>C (n.*1574T>C)
c.2127T>C (n.2127T>C)
c.1747T>C (p.Ser583Pro)
c.1795T>C (p.Ser599Pro)
c.1891T>C (p.Ser631Pro)
c.1837T>C (p.Ser613Pro)
c.1798T>C (p.Ser600Pro)
dbSNP gnomAD v2 gnomAD v4
18g.33739319T>GCA402176877ASXL3c.1918T>G (p.Ser640Ala)
c.1915T>G (p.Ser639Ala)
c.*1039T>G (n.*1039T>G)
c.*1574T>G (n.*1574T>G)
c.2127T>G (n.2127T>G)
c.1747T>G (p.Ser583Ala)
c.1795T>G (p.Ser599Ala)
c.1891T>G (p.Ser631Ala)
c.1837T>G (p.Ser613Ala)
c.1798T>G (p.Ser600Ala)
dbSNP gnomAD v3 gnomAD v4
18g.33739319T=CA2294855920ASXL3c.1918T= (p.Ser640=)
c.1915T= (p.Ser639=)
c.*1039T= (n.*1039T=)
c.*1574T= (n.*1574T=)
c.2127T= (n.2127T=)
c.1747T= (p.Ser583=)
c.1795T= (p.Ser599=)
c.1891T= (p.Ser631=)
c.1837T= (p.Ser613=)
c.1798T= (p.Ser600=)
18g.33739320C>ACA402176878ASXL3c.1919C>A (p.Ser640Ter)
c.1916C>A (p.Ser639Ter)
c.*1040C>A (n.*1040C>A)
c.*1575C>A (n.*1575C>A)
c.2128C>A (n.2128C>A)
c.1748C>A (p.Ser583Ter)
c.1796C>A (p.Ser599Ter)
c.1892C>A (p.Ser631Ter)
c.1838C>A (p.Ser613Ter)
c.1799C>A (p.Ser600Ter)
18g.33739320C=CA2294855921ASXL3c.1919C= (p.Ser640=)
c.1916C= (p.Ser639=)
c.*1040C= (n.*1040C=)
c.*1575C= (n.*1575C=)
c.2128C= (n.2128C=)
c.1748C= (p.Ser583=)
c.1796C= (p.Ser599=)
c.1892C= (p.Ser631=)
c.1838C= (p.Ser613=)
c.1799C= (p.Ser600=)
18g.33739320C>GCA402176879ASXL3c.1919C>G (p.Ser640Ter)
c.1916C>G (p.Ser639Ter)
c.*1040C>G (n.*1040C>G)
c.*1575C>G (n.*1575C>G)
c.2128C>G (n.2128C>G)
c.1748C>G (p.Ser583Ter)
c.1796C>G (p.Ser599Ter)
c.1892C>G (p.Ser631Ter)
c.1838C>G (p.Ser613Ter)
c.1799C>G (p.Ser600Ter)
18g.33739320C>TCA297787100ASXL3c.1919C>T (p.Ser640Leu)
c.1916C>T (p.Ser639Leu)
c.*1040C>T (n.*1040C>T)
c.*1575C>T (n.*1575C>T)
c.2128C>T (n.2128C>T)
c.1748C>T (p.Ser583Leu)
c.1796C>T (p.Ser599Leu)
c.1892C>T (p.Ser631Leu)
c.1838C>T (p.Ser613Leu)
c.1799C>T (p.Ser600Leu)
dbSNP
18g.33739321A=CA2294855922ASXL3c.1920A= (p.Ser640=)
c.1917A= (p.Ser639=)
c.*1041A= (n.*1041A=)
c.*1576A= (n.*1576A=)
c.2129A= (n.2129A=)
c.1749A= (p.Ser583=)
c.1797A= (p.Ser599=)
c.1893A= (p.Ser631=)
c.1839A= (p.Ser613=)
c.1800A= (p.Ser600=)
18g.33739321A>CCA503768932ASXL3c.1920A>C (p.Ser640=)
c.1917A>C (p.Ser639=)
c.*1041A>C (n.*1041A>C)
c.*1576A>C (n.*1576A>C)
c.2129A>C (n.2129A>C)
c.1749A>C (p.Ser583=)
c.1797A>C (p.Ser599=)
c.1893A>C (p.Ser631=)
c.1839A>C (p.Ser613=)
c.1800A>C (p.Ser600=)
18g.33739321A>GCA8933834ASXL3c.1920A>G (p.Ser640=)
c.1917A>G (p.Ser639=)
c.*1041A>G (n.*1041A>G)
c.*1576A>G (n.*1576A>G)
c.2129A>G (n.2129A>G)
c.1749A>G (p.Ser583=)
c.1797A>G (p.Ser599=)
c.1893A>G (p.Ser631=)
c.1839A>G (p.Ser613=)
c.1800A>G (p.Ser600=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739321A>TCA503768934ASXL3c.1920A>T (p.Ser640=)
c.1917A>T (p.Ser639=)
c.*1041A>T (n.*1041A>T)
c.*1576A>T (n.*1576A>T)
c.2129A>T (n.2129A>T)
c.1749A>T (p.Ser583=)
c.1797A>T (p.Ser599=)
c.1893A>T (p.Ser631=)
c.1839A>T (p.Ser613=)
c.1800A>T (p.Ser600=)
18g.33739322T>ACA402176881ASXL3c.1921T>A (p.Cys641Ser)
c.1918T>A (p.Cys640Ser)
c.*1042T>A (n.*1042T>A)
c.*1577T>A (n.*1577T>A)
c.2130T>A (n.2130T>A)
c.1750T>A (p.Cys584Ser)
c.1798T>A (p.Cys600Ser)
c.1894T>A (p.Cys632Ser)
c.1840T>A (p.Cys614Ser)
c.1801T>A (p.Cys601Ser)
18g.33739322T>CCA402176880ASXL3c.1921T>C (p.Cys641Arg)
c.1918T>C (p.Cys640Arg)
c.*1042T>C (n.*1042T>C)
c.*1577T>C (n.*1577T>C)
c.2130T>C (n.2130T>C)
c.1750T>C (p.Cys584Arg)
c.1798T>C (p.Cys600Arg)
c.1894T>C (p.Cys632Arg)
c.1840T>C (p.Cys614Arg)
c.1801T>C (p.Cys601Arg)
ClinVar dbSNP gnomAD v4
18g.33739322T>GCA8933835ASXL3c.1921T>G (p.Cys641Gly)
c.1918T>G (p.Cys640Gly)
c.*1042T>G (n.*1042T>G)
c.*1577T>G (n.*1577T>G)
c.2130T>G (n.2130T>G)
c.1750T>G (p.Cys584Gly)
c.1798T>G (p.Cys600Gly)
c.1894T>G (p.Cys632Gly)
c.1840T>G (p.Cys614Gly)
c.1801T>G (p.Cys601Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739322T=CA2294855923ASXL3c.1921T= (p.Cys641=)
c.1918T= (p.Cys640=)
c.*1042T= (n.*1042T=)
c.*1577T= (n.*1577T=)
c.2130T= (n.2130T=)
c.1750T= (p.Cys584=)
c.1798T= (p.Cys600=)
c.1894T= (p.Cys632=)
c.1840T= (p.Cys614=)
c.1801T= (p.Cys601=)
18g.33739323G>ACA8933836ASXL3c.1922G>A (p.Cys641Tyr)
c.1919G>A (p.Cys640Tyr)
c.*1043G>A (n.*1043G>A)
c.*1578G>A (n.*1578G>A)
c.2131G>A (n.2131G>A)
c.1751G>A (p.Cys584Tyr)
c.1799G>A (p.Cys600Tyr)
c.1895G>A (p.Cys632Tyr)
c.1841G>A (p.Cys614Tyr)
c.1802G>A (p.Cys601Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739323G>CCA402176882ASXL3c.1922G>C (p.Cys641Ser)
c.1919G>C (p.Cys640Ser)
c.*1043G>C (n.*1043G>C)
c.*1578G>C (n.*1578G>C)
c.2131G>C (n.2131G>C)
c.1751G>C (p.Cys584Ser)
c.1799G>C (p.Cys600Ser)
c.1895G>C (p.Cys632Ser)
c.1841G>C (p.Cys614Ser)
c.1802G>C (p.Cys601Ser)
18g.33739323G=CA2294855924ASXL3c.1922G= (p.Cys641=)
c.1919G= (p.Cys640=)
c.*1043G= (n.*1043G=)
c.*1578G= (n.*1578G=)
c.2131G= (n.2131G=)
c.1751G= (p.Cys584=)
c.1799G= (p.Cys600=)
c.1895G= (p.Cys632=)
c.1841G= (p.Cys614=)
c.1802G= (p.Cys601=)
18g.33739323G>TCA402176883ASXL3c.1922G>T (p.Cys641Phe)
c.1919G>T (p.Cys640Phe)
c.*1043G>T (n.*1043G>T)
c.*1578G>T (n.*1578G>T)
c.2131G>T (n.2131G>T)
c.1751G>T (p.Cys584Phe)
c.1799G>T (p.Cys600Phe)
c.1895G>T (p.Cys632Phe)
c.1841G>T (p.Cys614Phe)
c.1802G>T (p.Cys601Phe)
18g.33739324T>ACA402176884ASXL3c.1923T>A (p.Cys641Ter)
c.1920T>A (p.Cys640Ter)
c.*1044T>A (n.*1044T>A)
c.*1579T>A (n.*1579T>A)
c.2132T>A (n.2132T>A)
c.1752T>A (p.Cys584Ter)
c.1800T>A (p.Cys600Ter)
c.1896T>A (p.Cys632Ter)
c.1842T>A (p.Cys614Ter)
c.1803T>A (p.Cys601Ter)
18g.33739324T>CCA503768935ASXL3c.1923T>C (p.Cys641=)
c.1920T>C (p.Cys640=)
c.*1044T>C (n.*1044T>C)
c.*1579T>C (n.*1579T>C)
c.2132T>C (n.2132T>C)
c.1752T>C (p.Cys584=)
c.1800T>C (p.Cys600=)
c.1896T>C (p.Cys632=)
c.1842T>C (p.Cys614=)
c.1803T>C (p.Cys601=)
dbSNP
18g.33739324T>GCA402176885ASXL3c.1923T>G (p.Cys641Trp)
c.1920T>G (p.Cys640Trp)
c.*1044T>G (n.*1044T>G)
c.*1579T>G (n.*1579T>G)
c.2132T>G (n.2132T>G)
c.1752T>G (p.Cys584Trp)
c.1800T>G (p.Cys600Trp)
c.1896T>G (p.Cys632Trp)
c.1842T>G (p.Cys614Trp)
c.1803T>G (p.Cys601Trp)
18g.33739324T=CA2294855925ASXL3c.1923T= (p.Cys641=)
c.1920T= (p.Cys640=)
c.*1044T= (n.*1044T=)
c.*1579T= (n.*1579T=)
c.2132T= (n.2132T=)
c.1752T= (p.Cys584=)
c.1800T= (p.Cys600=)
c.1896T= (p.Cys632=)
c.1842T= (p.Cys614=)
c.1803T= (p.Cys601=)
18g.33739325A=CA2294855926ASXL3c.1924A= (p.Thr642=)
c.1921A= (p.Thr641=)
c.*1045A= (n.*1045A=)
c.*1580A= (n.*1580A=)
c.2133A= (n.2133A=)
c.1753A= (p.Thr585=)
c.1801A= (p.Thr601=)
c.1897A= (p.Thr633=)
c.1843A= (p.Thr615=)
c.1804A= (p.Thr602=)
18g.33739325A>CCA402176886ASXL3c.1924A>C (p.Thr642Pro)
c.1921A>C (p.Thr641Pro)
c.*1045A>C (n.*1045A>C)
c.*1580A>C (n.*1580A>C)
c.2133A>C (n.2133A>C)
c.1753A>C (p.Thr585Pro)
c.1801A>C (p.Thr601Pro)
c.1897A>C (p.Thr633Pro)
c.1843A>C (p.Thr615Pro)
c.1804A>C (p.Thr602Pro)
18g.33739325A>GCA402176887ASXL3c.1924A>G (p.Thr642Ala)
c.1921A>G (p.Thr641Ala)
c.*1045A>G (n.*1045A>G)
c.*1580A>G (n.*1580A>G)
c.2133A>G (n.2133A>G)
c.1753A>G (p.Thr585Ala)
c.1801A>G (p.Thr601Ala)
c.1897A>G (p.Thr633Ala)
c.1843A>G (p.Thr615Ala)
c.1804A>G (p.Thr602Ala)
dbSNP gnomAD v3 gnomAD v4
18g.33739325A>TCA402176888ASXL3c.1924A>T (p.Thr642Ser)
c.1921A>T (p.Thr641Ser)
c.*1045A>T (n.*1045A>T)
c.*1580A>T (n.*1580A>T)
c.2133A>T (n.2133A>T)
c.1753A>T (p.Thr585Ser)
c.1801A>T (p.Thr601Ser)
c.1897A>T (p.Thr633Ser)
c.1843A>T (p.Thr615Ser)
c.1804A>T (p.Thr602Ser)
18g.33739325_33739328dupCA2695227383ASXL3c.1924_1927dup (p.Pro643HisfsTer6)
c.1921_1924dup (p.Pro642HisfsTer6)
c.*1045_*1048dup (n.*1045_*1048dup)
c.*1580_*1583dup (n.*1580_*1583dup)
c.2133_2136dup (n.2133_2136dup)
c.1753_1756dup (p.Pro586HisfsTer6)
c.1801_1804dup (p.Pro602HisfsTer6)
c.1897_1900dup (p.Pro634HisfsTer6)
c.1843_1846dup (p.Pro616HisfsTer6)
c.1804_1807dup (p.Pro603HisfsTer6)
18g.33739326C>ACA402176889ASXL3c.1925C>A (p.Thr642Asn)
c.1922C>A (p.Thr641Asn)
c.*1046C>A (n.*1046C>A)
c.*1581C>A (n.*1581C>A)
c.2134C>A (n.2134C>A)
c.1754C>A (p.Thr585Asn)
c.1802C>A (p.Thr601Asn)
c.1898C>A (p.Thr633Asn)
c.1844C>A (p.Thr615Asn)
c.1805C>A (p.Thr602Asn)
18g.33739326C>GCA402176890ASXL3c.1925C>G (p.Thr642Ser)
c.1922C>G (p.Thr641Ser)
c.*1046C>G (n.*1046C>G)
c.*1581C>G (n.*1581C>G)
c.2134C>G (n.2134C>G)
c.1754C>G (p.Thr585Ser)
c.1802C>G (p.Thr601Ser)
c.1898C>G (p.Thr633Ser)
c.1844C>G (p.Thr615Ser)
c.1805C>G (p.Thr602Ser)
18g.33739326C>TCA402176891ASXL3c.1925C>T (p.Thr642Ile)
c.1922C>T (p.Thr641Ile)
c.*1046C>T (n.*1046C>T)
c.*1581C>T (n.*1581C>T)
c.2134C>T (n.2134C>T)
c.1754C>T (p.Thr585Ile)
c.1802C>T (p.Thr601Ile)
c.1898C>T (p.Thr633Ile)
c.1844C>T (p.Thr615Ile)
c.1805C>T (p.Thr602Ile)
gnomAD v4
18g.33739327T>ACA503768939ASXL3c.1926T>A (p.Thr642=)
c.1923T>A (p.Thr641=)
c.*1047T>A (n.*1047T>A)
c.*1582T>A (n.*1582T>A)
c.2135T>A (n.2135T>A)
c.1755T>A (p.Thr585=)
c.1803T>A (p.Thr601=)
c.1899T>A (p.Thr633=)
c.1845T>A (p.Thr615=)
c.1806T>A (p.Thr602=)
gnomAD v4
18g.33739327T>CCA503768940ASXL3c.1926T>C (p.Thr642=)
c.1923T>C (p.Thr641=)
c.*1047T>C (n.*1047T>C)
c.*1582T>C (n.*1582T>C)
c.2135T>C (n.2135T>C)
c.1755T>C (p.Thr585=)
c.1803T>C (p.Thr601=)
c.1899T>C (p.Thr633=)
c.1845T>C (p.Thr615=)
c.1806T>C (p.Thr602=)
18g.33739327T>GCA503768941ASXL3c.1926T>G (p.Thr642=)
c.1923T>G (p.Thr641=)
c.*1047T>G (n.*1047T>G)
c.*1582T>G (n.*1582T>G)
c.2135T>G (n.2135T>G)
c.1755T>G (p.Thr585=)
c.1803T>G (p.Thr601=)
c.1899T>G (p.Thr633=)
c.1845T>G (p.Thr615=)
c.1806T>G (p.Thr602=)
18g.33739328C>ACA402176893ASXL3c.1927C>A (p.Pro643Thr)
c.1924C>A (p.Pro642Thr)
c.*1048C>A (n.*1048C>A)
c.*1583C>A (n.*1583C>A)
c.2136C>A (n.2136C>A)
c.1756C>A (p.Pro586Thr)
c.1804C>A (p.Pro602Thr)
c.1900C>A (p.Pro634Thr)
c.1846C>A (p.Pro616Thr)
c.1807C>A (p.Pro603Thr)
gnomAD v4
18g.33739328C=CA2294855927ASXL3c.1927C= (p.Pro643=)
c.1924C= (p.Pro642=)
c.*1048C= (n.*1048C=)
c.*1583C= (n.*1583C=)
c.2136C= (n.2136C=)
c.1756C= (p.Pro586=)
c.1804C= (p.Pro602=)
c.1900C= (p.Pro634=)
c.1846C= (p.Pro616=)
c.1807C= (p.Pro603=)
18g.33739328C>GCA402176892ASXL3c.1927C>G (p.Pro643Ala)
c.1924C>G (p.Pro642Ala)
c.*1048C>G (n.*1048C>G)
c.*1583C>G (n.*1583C>G)
c.2136C>G (n.2136C>G)
c.1756C>G (p.Pro586Ala)
c.1804C>G (p.Pro602Ala)
c.1900C>G (p.Pro634Ala)
c.1846C>G (p.Pro616Ala)
c.1807C>G (p.Pro603Ala)
gnomAD v4
18g.33739328C>TCA8933837ASXL3c.1927C>T (p.Pro643Ser)
c.1924C>T (p.Pro642Ser)
c.*1048C>T (n.*1048C>T)
c.*1583C>T (n.*1583C>T)
c.2136C>T (n.2136C>T)
c.1756C>T (p.Pro586Ser)
c.1804C>T (p.Pro602Ser)
c.1900C>T (p.Pro634Ser)
c.1846C>T (p.Pro616Ser)
c.1807C>T (p.Pro603Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739329delCA2812055554ASXL3c.1928del (p.Pro643GlnfsTer?)
c.1925del (p.Pro642GlnfsTer?)
c.*1049del (n.*1049del)
c.*1584del (n.*1584del)
c.2137del (n.2137del)
c.1757del (p.Pro586GlnfsTer?)
c.1805del (p.Pro602GlnfsTer?)
c.1901del (p.Pro634GlnfsTer?)
c.1847del (p.Pro616GlnfsTer?)
c.1808del (p.Pro603GlnfsTer?)
18g.33739328_33739329insTCA2812055556ASXL3c.1927_1928insT (p.Pro643LeufsTer5)
c.1924_1925insT (p.Pro642LeufsTer5)
c.*1048_*1049insT (n.*1048_*1049insT)
c.*1583_*1584insT (n.*1583_*1584insT)
c.2136_2137insT (n.2136_2137insT)
c.1756_1757insT (p.Pro586LeufsTer5)
c.1804_1805insT (p.Pro602LeufsTer5)
c.1900_1901insT (p.Pro634LeufsTer5)
c.1846_1847insT (p.Pro616LeufsTer5)
c.1807_1808insT (p.Pro603LeufsTer5)
18g.33739329C>ACA402176894ASXL3c.1928C>A (p.Pro643Gln)
c.1925C>A (p.Pro642Gln)
c.*1049C>A (n.*1049C>A)
c.*1584C>A (n.*1584C>A)
c.2137C>A (n.2137C>A)
c.1757C>A (p.Pro586Gln)
c.1805C>A (p.Pro602Gln)
c.1901C>A (p.Pro634Gln)
c.1847C>A (p.Pro616Gln)
c.1808C>A (p.Pro603Gln)
18g.33739329C=CA2294855928ASXL3c.1928C= (p.Pro643=)
c.1925C= (p.Pro642=)
c.*1049C= (n.*1049C=)
c.*1584C= (n.*1584C=)
c.2137C= (n.2137C=)
c.1757C= (p.Pro586=)
c.1805C= (p.Pro602=)
c.1901C= (p.Pro634=)
c.1847C= (p.Pro616=)
c.1808C= (p.Pro603=)
18g.33739329C>GCA402176895ASXL3c.1928C>G (p.Pro643Arg)
c.1925C>G (p.Pro642Arg)
c.*1049C>G (n.*1049C>G)
c.*1584C>G (n.*1584C>G)
c.2137C>G (n.2137C>G)
c.1757C>G (p.Pro586Arg)
c.1805C>G (p.Pro602Arg)
c.1901C>G (p.Pro634Arg)
c.1847C>G (p.Pro616Arg)
c.1808C>G (p.Pro603Arg)
18g.33739329C>TCA209303ASXL3c.1928C>T (p.Pro643Leu)
c.1925C>T (p.Pro642Leu)
c.*1049C>T (n.*1049C>T)
c.*1584C>T (n.*1584C>T)
c.2137C>T (n.2137C>T)
c.1757C>T (p.Pro586Leu)
c.1805C>T (p.Pro602Leu)
c.1901C>T (p.Pro634Leu)
c.1847C>T (p.Pro616Leu)
c.1808C>T (p.Pro603Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739330A=CA2294855929ASXL3c.1929A= (p.Pro643=)
c.1926A= (p.Pro642=)
c.*1050A= (n.*1050A=)
c.*1585A= (n.*1585A=)
c.2138A= (n.2138A=)
c.1758A= (p.Pro586=)
c.1806A= (p.Pro602=)
c.1902A= (p.Pro634=)
c.1848A= (p.Pro616=)
c.1809A= (p.Pro603=)
18g.33739330A>CCA503768943ASXL3c.1929A>C (p.Pro643=)
c.1926A>C (p.Pro642=)
c.*1050A>C (n.*1050A>C)
c.*1585A>C (n.*1585A>C)
c.2138A>C (n.2138A>C)
c.1758A>C (p.Pro586=)
c.1806A>C (p.Pro602=)
c.1902A>C (p.Pro634=)
c.1848A>C (p.Pro616=)
c.1809A>C (p.Pro603=)
18g.33739330A>GCA503768947ASXL3c.1929A>G (p.Pro643=)
c.1926A>G (p.Pro642=)
c.*1050A>G (n.*1050A>G)
c.*1585A>G (n.*1585A>G)
c.2138A>G (n.2138A>G)
c.1758A>G (p.Pro586=)
c.1806A>G (p.Pro602=)
c.1902A>G (p.Pro634=)
c.1848A>G (p.Pro616=)
c.1809A>G (p.Pro603=)
dbSNP gnomAD v2 gnomAD v4
18g.33739330A>TCA503768945ASXL3c.1929A>T (p.Pro643=)
c.1926A>T (p.Pro642=)
c.*1050A>T (n.*1050A>T)
c.*1585A>T (n.*1585A>T)
c.2138A>T (n.2138A>T)
c.1758A>T (p.Pro586=)
c.1806A>T (p.Pro602=)
c.1902A>T (p.Pro634=)
c.1848A>T (p.Pro616=)
c.1809A>T (p.Pro603=)
18g.33739330_33739331insAGGGAGCA2812055557ASXL3c.1929_1930insAGGGAG (p.Pro643_Ala644insArgGlu)
c.1926_1927insAGGGAG (p.Pro642_Ala643insArgGlu)
c.*1050_*1051insAGGGAG (n.*1050_*1051insAGGGAG)
c.*1585_*1586insAGGGAG (n.*1585_*1586insAGGGAG)
c.2138_2139insAGGGAG (n.2138_2139insAGGGAG)
c.1758_1759insAGGGAG (p.Pro586_Ala587insArgGlu)
c.1806_1807insAGGGAG (p.Pro602_Ala603insArgGlu)
c.1902_1903insAGGGAG (p.Pro634_Ala635insArgGlu)
c.1848_1849insAGGGAG (p.Pro616_Ala617insArgGlu)
c.1809_1810insAGGGAG (p.Pro603_Ala604insArgGlu)
18g.33739331G>ACA402176896ASXL3c.1930G>A (p.Ala644Thr)
c.1927G>A (p.Ala643Thr)
c.*1051G>A (n.*1051G>A)
c.*1586G>A (n.*1586G>A)
c.2139G>A (n.2139G>A)
c.1759G>A (p.Ala587Thr)
c.1807G>A (p.Ala603Thr)
c.1903G>A (p.Ala635Thr)
c.1849G>A (p.Ala617Thr)
c.1810G>A (p.Ala604Thr)
18g.33739331G>CCA402176897ASXL3c.1930G>C (p.Ala644Pro)
c.1927G>C (p.Ala643Pro)
c.*1051G>C (n.*1051G>C)
c.*1586G>C (n.*1586G>C)
c.2139G>C (n.2139G>C)
c.1759G>C (p.Ala587Pro)
c.1807G>C (p.Ala603Pro)
c.1903G>C (p.Ala635Pro)
c.1849G>C (p.Ala617Pro)
c.1810G>C (p.Ala604Pro)
18g.33739331G=CA2294855930ASXL3c.1930G= (p.Ala644=)
c.1927G= (p.Ala643=)
c.*1051G= (n.*1051G=)
c.*1586G= (n.*1586G=)
c.2139G= (n.2139G=)
c.1759G= (p.Ala587=)
c.1807G= (p.Ala603=)
c.1903G= (p.Ala635=)
c.1849G= (p.Ala617=)
c.1810G= (p.Ala604=)
18g.33739331G>TCA8933838ASXL3c.1930G>T (p.Ala644Ser)
c.1927G>T (p.Ala643Ser)
c.*1051G>T (n.*1051G>T)
c.*1586G>T (n.*1586G>T)
c.2139G>T (n.2139G>T)
c.1759G>T (p.Ala587Ser)
c.1807G>T (p.Ala603Ser)
c.1903G>T (p.Ala635Ser)
c.1849G>T (p.Ala617Ser)
c.1810G>T (p.Ala604Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739332C>ACA402176898ASXL3c.1931C>A (p.Ala644Asp)
c.1928C>A (p.Ala643Asp)
c.*1052C>A (n.*1052C>A)
c.*1587C>A (n.*1587C>A)
c.2140C>A (n.2140C>A)
c.1760C>A (p.Ala587Asp)
c.1808C>A (p.Ala603Asp)
c.1904C>A (p.Ala635Asp)
c.1850C>A (p.Ala617Asp)
c.1811C>A (p.Ala604Asp)
gnomAD v4
18g.33739332C=CA2294855931ASXL3c.1931C= (p.Ala644=)
c.1928C= (p.Ala643=)
c.*1052C= (n.*1052C=)
c.*1587C= (n.*1587C=)
c.2140C= (n.2140C=)
c.1760C= (p.Ala587=)
c.1808C= (p.Ala603=)
c.1904C= (p.Ala635=)
c.1850C= (p.Ala617=)
c.1811C= (p.Ala604=)
18g.33739332C>GCA402176899ASXL3c.1931C>G (p.Ala644Gly)
c.1928C>G (p.Ala643Gly)
c.*1052C>G (n.*1052C>G)
c.*1587C>G (n.*1587C>G)
c.2140C>G (n.2140C>G)
c.1760C>G (p.Ala587Gly)
c.1808C>G (p.Ala603Gly)
c.1904C>G (p.Ala635Gly)
c.1850C>G (p.Ala617Gly)
c.1811C>G (p.Ala604Gly)
18g.33739332C>TCA402176900ASXL3c.1931C>T (p.Ala644Val)
c.1928C>T (p.Ala643Val)
c.*1052C>T (n.*1052C>T)
c.*1587C>T (n.*1587C>T)
c.2140C>T (n.2140C>T)
c.1760C>T (p.Ala587Val)
c.1808C>T (p.Ala603Val)
c.1904C>T (p.Ala635Val)
c.1850C>T (p.Ala617Val)
c.1811C>T (p.Ala604Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.33739333C>ACA503768948ASXL3c.1932C>A (p.Ala644=)
c.1929C>A (p.Ala643=)
c.*1053C>A (n.*1053C>A)
c.*1588C>A (n.*1588C>A)
c.2141C>A (n.2141C>A)
c.1761C>A (p.Ala587=)
c.1809C>A (p.Ala603=)
c.1905C>A (p.Ala635=)
c.1851C>A (p.Ala617=)
c.1812C>A (p.Ala604=)
18g.33739333C>GCA503768949ASXL3c.1932C>G (p.Ala644=)
c.1929C>G (p.Ala643=)
c.*1053C>G (n.*1053C>G)
c.*1588C>G (n.*1588C>G)
c.2141C>G (n.2141C>G)
c.1761C>G (p.Ala587=)
c.1809C>G (p.Ala603=)
c.1905C>G (p.Ala635=)
c.1851C>G (p.Ala617=)
c.1812C>G (p.Ala604=)
18g.33739333C>TCA503768950ASXL3c.1932C>T (p.Ala644=)
c.1929C>T (p.Ala643=)
c.*1053C>T (n.*1053C>T)
c.*1588C>T (n.*1588C>T)
c.2141C>T (n.2141C>T)
c.1761C>T (p.Ala587=)
c.1809C>T (p.Ala603=)
c.1905C>T (p.Ala635=)
c.1851C>T (p.Ala617=)
c.1812C>T (p.Ala604=)
gnomAD v4
18g.33739333_33739338delCA2812055559ASXL3c.1932_1937del (p.Ser645_Leu646del)
c.1929_1934del (p.Ser644_Leu645del)
c.*1053_*1058del (n.*1053_*1058del)
c.*1588_*1593del (n.*1588_*1593del)
c.2141_2146del (n.2141_2146del)
c.1761_1766del (p.Ser588_Leu589del)
c.1809_1814del (p.Ser604_Leu605del)
c.1905_1910del (p.Ser636_Leu637del)
c.1851_1856del (p.Ser618_Leu619del)
c.1812_1817del (p.Ser605_Leu606del)
18g.33739334T>ACA402176901ASXL3c.1933T>A (p.Ser645Thr)
c.1930T>A (p.Ser644Thr)
c.*1054T>A (n.*1054T>A)
c.*1589T>A (n.*1589T>A)
c.2142T>A (n.2142T>A)
c.1762T>A (p.Ser588Thr)
c.1810T>A (p.Ser604Thr)
c.1906T>A (p.Ser636Thr)
c.1852T>A (p.Ser618Thr)
c.1813T>A (p.Ser605Thr)
18g.33739334T>CCA402176902ASXL3c.1933T>C (p.Ser645Pro)
c.1930T>C (p.Ser644Pro)
c.*1054T>C (n.*1054T>C)
c.*1589T>C (n.*1589T>C)
c.2142T>C (n.2142T>C)
c.1762T>C (p.Ser588Pro)
c.1810T>C (p.Ser604Pro)
c.1906T>C (p.Ser636Pro)
c.1852T>C (p.Ser618Pro)
c.1813T>C (p.Ser605Pro)
18g.33739334T>GCA402176903ASXL3c.1933T>G (p.Ser645Ala)
c.1930T>G (p.Ser644Ala)
c.*1054T>G (n.*1054T>G)
c.*1589T>G (n.*1589T>G)
c.2142T>G (n.2142T>G)
c.1762T>G (p.Ser588Ala)
c.1810T>G (p.Ser604Ala)
c.1906T>G (p.Ser636Ala)
c.1852T>G (p.Ser618Ala)
c.1813T>G (p.Ser605Ala)
18g.33739335C>ACA402176905ASXL3c.1934C>A (p.Ser645Tyr)
c.1931C>A (p.Ser644Tyr)
c.*1055C>A (n.*1055C>A)
c.*1590C>A (n.*1590C>A)
c.2143C>A (n.2143C>A)
c.1763C>A (p.Ser588Tyr)
c.1811C>A (p.Ser604Tyr)
c.1907C>A (p.Ser636Tyr)
c.1853C>A (p.Ser618Tyr)
c.1814C>A (p.Ser605Tyr)
18g.33739335C=CA2294855932ASXL3c.1934C= (p.Ser645=)
c.1931C= (p.Ser644=)
c.*1055C= (n.*1055C=)
c.*1590C= (n.*1590C=)
c.2143C= (n.2143C=)
c.1763C= (p.Ser588=)
c.1811C= (p.Ser604=)
c.1907C= (p.Ser636=)
c.1853C= (p.Ser618=)
c.1814C= (p.Ser605=)
18g.33739335C>GCA8933839ASXL3c.1934C>G (p.Ser645Cys)
c.1931C>G (p.Ser644Cys)
c.*1055C>G (n.*1055C>G)
c.*1590C>G (n.*1590C>G)
c.2143C>G (n.2143C>G)
c.1763C>G (p.Ser588Cys)
c.1811C>G (p.Ser604Cys)
c.1907C>G (p.Ser636Cys)
c.1853C>G (p.Ser618Cys)
c.1814C>G (p.Ser605Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739335C>TCA402176904ASXL3c.1934C>T (p.Ser645Phe)
c.1931C>T (p.Ser644Phe)
c.*1055C>T (n.*1055C>T)
c.*1590C>T (n.*1590C>T)
c.2143C>T (n.2143C>T)
c.1763C>T (p.Ser588Phe)
c.1811C>T (p.Ser604Phe)
c.1907C>T (p.Ser636Phe)
c.1853C>T (p.Ser618Phe)
c.1814C>T (p.Ser605Phe)
18g.33739336C>ACA503768952ASXL3c.1935C>A (p.Ser645=)
c.1932C>A (p.Ser644=)
c.*1056C>A (n.*1056C>A)
c.*1591C>A (n.*1591C>A)
c.2144C>A (n.2144C>A)
c.1764C>A (p.Ser588=)
c.1812C>A (p.Ser604=)
c.1908C>A (p.Ser636=)
c.1854C>A (p.Ser618=)
c.1815C>A (p.Ser605=)
18g.33739336C>GCA503768953ASXL3c.1935C>G (p.Ser645=)
c.1932C>G (p.Ser644=)
c.*1056C>G (n.*1056C>G)
c.*1591C>G (n.*1591C>G)
c.2144C>G (n.2144C>G)
c.1764C>G (p.Ser588=)
c.1812C>G (p.Ser604=)
c.1908C>G (p.Ser636=)
c.1854C>G (p.Ser618=)
c.1815C>G (p.Ser605=)
18g.33739336C>TCA503768954ASXL3c.1935C>T (p.Ser645=)
c.1932C>T (p.Ser644=)
c.*1056C>T (n.*1056C>T)
c.*1591C>T (n.*1591C>T)
c.2144C>T (n.2144C>T)
c.1764C>T (p.Ser588=)
c.1812C>T (p.Ser604=)
c.1908C>T (p.Ser636=)
c.1854C>T (p.Ser618=)
c.1815C>T (p.Ser605=)
18g.33739337C>ACA402176906ASXL3c.1936C>A (p.Leu646Ile)
c.1933C>A (p.Leu645Ile)
c.*1057C>A (n.*1057C>A)
c.*1592C>A (n.*1592C>A)
c.2145C>A (n.2145C>A)
c.1765C>A (p.Leu589Ile)
c.1813C>A (p.Leu605Ile)
c.1909C>A (p.Leu637Ile)
c.1855C>A (p.Leu619Ile)
c.1816C>A (p.Leu606Ile)
gnomAD v4
18g.33739337C>GCA402176907ASXL3c.1936C>G (p.Leu646Val)
c.1933C>G (p.Leu645Val)
c.*1057C>G (n.*1057C>G)
c.*1592C>G (n.*1592C>G)
c.2145C>G (n.2145C>G)
c.1765C>G (p.Leu589Val)
c.1813C>G (p.Leu605Val)
c.1909C>G (p.Leu637Val)
c.1855C>G (p.Leu619Val)
c.1816C>G (p.Leu606Val)
18g.33739337C>TCA402176908ASXL3c.1936C>T (p.Leu646Phe)
c.1933C>T (p.Leu645Phe)
c.*1057C>T (n.*1057C>T)
c.*1592C>T (n.*1592C>T)
c.2145C>T (n.2145C>T)
c.1765C>T (p.Leu589Phe)
c.1813C>T (p.Leu605Phe)
c.1909C>T (p.Leu637Phe)
c.1855C>T (p.Leu619Phe)
c.1816C>T (p.Leu606Phe)
18g.33739338T>ACA402176909ASXL3c.1937T>A (p.Leu646His)
c.1934T>A (p.Leu645His)
c.*1058T>A (n.*1058T>A)
c.*1593T>A (n.*1593T>A)
c.2146T>A (n.2146T>A)
c.1766T>A (p.Leu589His)
c.1814T>A (p.Leu605His)
c.1910T>A (p.Leu637His)
c.1856T>A (p.Leu619His)
c.1817T>A (p.Leu606His)
18g.33739338T>CCA8933840ASXL3c.1937T>C (p.Leu646Pro)
c.1934T>C (p.Leu645Pro)
c.*1058T>C (n.*1058T>C)
c.*1593T>C (n.*1593T>C)
c.2146T>C (n.2146T>C)
c.1766T>C (p.Leu589Pro)
c.1814T>C (p.Leu605Pro)
c.1910T>C (p.Leu637Pro)
c.1856T>C (p.Leu619Pro)
c.1817T>C (p.Leu606Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739338T>GCA8933841ASXL3c.1937T>G (p.Leu646Arg)
c.1934T>G (p.Leu645Arg)
c.*1058T>G (n.*1058T>G)
c.*1593T>G (n.*1593T>G)
c.2146T>G (n.2146T>G)
c.1766T>G (p.Leu589Arg)
c.1814T>G (p.Leu605Arg)
c.1910T>G (p.Leu637Arg)
c.1856T>G (p.Leu619Arg)
c.1817T>G (p.Leu606Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739338T=CA2294855933ASXL3c.1937T= (p.Leu646=)
c.1934T= (p.Leu645=)
c.*1058T= (n.*1058T=)
c.*1593T= (n.*1593T=)
c.2146T= (n.2146T=)
c.1766T= (p.Leu589=)
c.1814T= (p.Leu605=)
c.1910T= (p.Leu637=)
c.1856T= (p.Leu619=)
c.1817T= (p.Leu606=)
18g.33739339T>ACA503768958ASXL3c.1938T>A (p.Leu646=)
c.1935T>A (p.Leu645=)
c.*1059T>A (n.*1059T>A)
c.*1594T>A (n.*1594T>A)
c.2147T>A (n.2147T>A)
c.1767T>A (p.Leu589=)
c.1815T>A (p.Leu605=)
c.1911T>A (p.Leu637=)
c.1857T>A (p.Leu619=)
c.1818T>A (p.Leu606=)
18g.33739339T>CCA503768959ASXL3c.1938T>C (p.Leu646=)
c.1935T>C (p.Leu645=)
c.*1059T>C (n.*1059T>C)
c.*1594T>C (n.*1594T>C)
c.2147T>C (n.2147T>C)
c.1767T>C (p.Leu589=)
c.1815T>C (p.Leu605=)
c.1911T>C (p.Leu637=)
c.1857T>C (p.Leu619=)
c.1818T>C (p.Leu606=)
18g.33739339T>GCA503768960ASXL3c.1938T>G (p.Leu646=)
c.1935T>G (p.Leu645=)
c.*1059T>G (n.*1059T>G)
c.*1594T>G (n.*1594T>G)
c.2147T>G (n.2147T>G)
c.1767T>G (p.Leu589=)
c.1815T>G (p.Leu605=)
c.1911T>G (p.Leu637=)
c.1857T>G (p.Leu619=)
c.1818T>G (p.Leu606=)
gnomAD v4
18g.33739340G>ACA402176912ASXL3c.1939G>A (p.Glu647Lys)
c.1936G>A (p.Glu646Lys)
c.*1060G>A (n.*1060G>A)
c.*1595G>A (n.*1595G>A)
c.2148G>A (n.2148G>A)
c.1768G>A (p.Glu590Lys)
c.1816G>A (p.Glu606Lys)
c.1912G>A (p.Glu638Lys)
c.1858G>A (p.Glu620Lys)
c.1819G>A (p.Glu607Lys)
gnomAD v4
18g.33739340G>CCA402176910ASXL3c.1939G>C (p.Glu647Gln)
c.1936G>C (p.Glu646Gln)
c.*1060G>C (n.*1060G>C)
c.*1595G>C (n.*1595G>C)
c.2148G>C (n.2148G>C)
c.1768G>C (p.Glu590Gln)
c.1816G>C (p.Glu606Gln)
c.1912G>C (p.Glu638Gln)
c.1858G>C (p.Glu620Gln)
c.1819G>C (p.Glu607Gln)
dbSNP gnomAD v2 gnomAD v4
18g.33739340G=CA2294855934ASXL3c.1939G= (p.Glu647=)
c.1936G= (p.Glu646=)
c.*1060G= (n.*1060G=)
c.*1595G= (n.*1595G=)
c.2148G= (n.2148G=)
c.1768G= (p.Glu590=)
c.1816G= (p.Glu606=)
c.1912G= (p.Glu638=)
c.1858G= (p.Glu620=)
c.1819G= (p.Glu607=)
18g.33739340G>TCA402176911ASXL3c.1939G>T (p.Glu647Ter)
c.1936G>T (p.Glu646Ter)
c.*1060G>T (n.*1060G>T)
c.*1595G>T (n.*1595G>T)
c.2148G>T (n.2148G>T)
c.1768G>T (p.Glu590Ter)
c.1816G>T (p.Glu606Ter)
c.1912G>T (p.Glu638Ter)
c.1858G>T (p.Glu620Ter)
c.1819G>T (p.Glu607Ter)
18g.33739340_33739341delinsGACA2294855935ASXL3c.1939_1940delinsGA (p.Glu647=)
c.1936_1937delinsGA (p.Glu646=)
c.*1060_*1061delinsGA (n.*1060_*1061delinsGA)
c.*1595_*1596delinsGA (n.*1595_*1596delinsGA)
c.2148_2149delinsGA (n.2148_2149delinsGA)
c.1768_1769delinsGA (p.Glu590=)
c.1816_1817delinsGA (p.Glu606=)
c.1912_1913delinsGA (p.Glu638=)
c.1858_1859delinsGA (p.Glu620=)
c.1819_1820delinsGA (p.Glu607=)
18g.33739341delCA629454103ASXL3c.1940del (p.Glu647GlyfsTer?)
c.1937del (p.Glu646GlyfsTer?)
c.*1061del (n.*1061del)
c.*1596del (n.*1596del)
c.2149del (n.2149del)
c.1769del (p.Glu590GlyfsTer?)
c.1817del (p.Glu606GlyfsTer?)
c.1913del (p.Glu638GlyfsTer?)
c.1859del (p.Glu620GlyfsTer?)
c.1820del (p.Glu607GlyfsTer?)
dbSNP gnomAD v2 gnomAD v4
18g.33739341A>CCA402176913ASXL3c.1940A>C (p.Glu647Ala)
c.1937A>C (p.Glu646Ala)
c.*1061A>C (n.*1061A>C)
c.*1596A>C (n.*1596A>C)
c.2149A>C (n.2149A>C)
c.1769A>C (p.Glu590Ala)
c.1817A>C (p.Glu606Ala)
c.1913A>C (p.Glu638Ala)
c.1859A>C (p.Glu620Ala)
c.1820A>C (p.Glu607Ala)
18g.33739341A>GCA402176914ASXL3c.1940A>G (p.Glu647Gly)
c.1937A>G (p.Glu646Gly)
c.*1061A>G (n.*1061A>G)
c.*1596A>G (n.*1596A>G)
c.2149A>G (n.2149A>G)
c.1769A>G (p.Glu590Gly)
c.1817A>G (p.Glu606Gly)
c.1913A>G (p.Glu638Gly)
c.1859A>G (p.Glu620Gly)
c.1820A>G (p.Glu607Gly)
18g.33739341A>TCA402176915ASXL3c.1940A>T (p.Glu647Val)
c.1937A>T (p.Glu646Val)
c.*1061A>T (n.*1061A>T)
c.*1596A>T (n.*1596A>T)
c.2149A>T (n.2149A>T)
c.1769A>T (p.Glu590Val)
c.1817A>T (p.Glu606Val)
c.1913A>T (p.Glu638Val)
c.1859A>T (p.Glu620Val)
c.1820A>T (p.Glu607Val)
18g.33739342G>ACA503768964ASXL3c.1941G>A (p.Glu647=)
c.1938G>A (p.Glu646=)
c.*1062G>A (n.*1062G>A)
c.*1597G>A (n.*1597G>A)
c.2150G>A (n.2150G>A)
c.1770G>A (p.Glu590=)
c.1818G>A (p.Glu606=)
c.1914G>A (p.Glu638=)
c.1860G>A (p.Glu620=)
c.1821G>A (p.Glu607=)
18g.33739342G>CCA402176916ASXL3c.1941G>C (p.Glu647Asp)
c.1938G>C (p.Glu646Asp)
c.*1062G>C (n.*1062G>C)
c.*1597G>C (n.*1597G>C)
c.2150G>C (n.2150G>C)
c.1770G>C (p.Glu590Asp)
c.1818G>C (p.Glu606Asp)
c.1914G>C (p.Glu638Asp)
c.1860G>C (p.Glu620Asp)
c.1821G>C (p.Glu607Asp)
18g.33739342G=CA2294855936ASXL3c.1941G= (p.Glu647=)
c.1938G= (p.Glu646=)
c.*1062G= (n.*1062G=)
c.*1597G= (n.*1597G=)
c.2150G= (n.2150G=)
c.1770G= (p.Glu590=)
c.1818G= (p.Glu606=)
c.1914G= (p.Glu638=)
c.1860G= (p.Glu620=)
c.1821G= (p.Glu607=)
18g.33739342G>TCA402176917ASXL3c.1941G>T (p.Glu647Asp)
c.1938G>T (p.Glu646Asp)
c.*1062G>T (n.*1062G>T)
c.*1597G>T (n.*1597G>T)
c.2150G>T (n.2150G>T)
c.1770G>T (p.Glu590Asp)
c.1818G>T (p.Glu606Asp)
c.1914G>T (p.Glu638Asp)
c.1860G>T (p.Glu620Asp)
c.1821G>T (p.Glu607Asp)
18g.33739343A>CCA402176918ASXL3c.1942A>C (p.Thr648Pro)
c.1939A>C (p.Thr647Pro)
c.*1063A>C (n.*1063A>C)
c.*1598A>C (n.*1598A>C)
c.2151A>C (n.2151A>C)
c.1771A>C (p.Thr591Pro)
c.1819A>C (p.Thr607Pro)
c.1915A>C (p.Thr639Pro)
c.1861A>C (p.Thr621Pro)
c.1822A>C (p.Thr608Pro)
18g.33739343A>GCA402176920ASXL3c.1942A>G (p.Thr648Ala)
c.1939A>G (p.Thr647Ala)
c.*1063A>G (n.*1063A>G)
c.*1598A>G (n.*1598A>G)
c.2151A>G (n.2151A>G)
c.1771A>G (p.Thr591Ala)
c.1819A>G (p.Thr607Ala)
c.1915A>G (p.Thr639Ala)
c.1861A>G (p.Thr621Ala)
c.1822A>G (p.Thr608Ala)
18g.33739343A>TCA402176919ASXL3c.1942A>T (p.Thr648Ser)
c.1939A>T (p.Thr647Ser)
c.*1063A>T (n.*1063A>T)
c.*1598A>T (n.*1598A>T)
c.2151A>T (n.2151A>T)
c.1771A>T (p.Thr591Ser)
c.1819A>T (p.Thr607Ser)
c.1915A>T (p.Thr639Ser)
c.1861A>T (p.Thr621Ser)
c.1822A>T (p.Thr608Ser)
gnomAD v4
18g.33739343dupCA10603491ASXL3c.1942dup (p.Thr648AsnfsTer6)
c.1939dup (p.Thr647AsnfsTer6)
c.*1063dup (n.*1063dup)
c.*1598dup (n.*1598dup)
c.2151dup (n.2151dup)
c.1771dup (p.Thr591AsnfsTer6)
c.1819dup (p.Thr607AsnfsTer6)
c.1915dup (p.Thr639AsnfsTer6)
c.1861dup (p.Thr621AsnfsTer6)
c.1822dup (p.Thr608AsnfsTer6)
ClinVar dbSNP
18g.33739346_33739348delCA2580612978ASXL3c.1945_1947del (p.Thr649del)
c.1942_1944del (p.Thr648del)
c.*1066_*1068del (n.*1066_*1068del)
c.*1601_*1603del (n.*1601_*1603del)
c.2154_2156del (n.2154_2156del)
c.1774_1776del (p.Thr592del)
c.1822_1824del (p.Thr608del)
c.1918_1920del (p.Thr640del)
c.1864_1866del (p.Thr622del)
c.1825_1827del (p.Thr609del)
ClinVar
18g.33739344C>ACA402176921ASXL3c.1943C>A (p.Thr648Lys)
c.1940C>A (p.Thr647Lys)
c.*1064C>A (n.*1064C>A)
c.*1599C>A (n.*1599C>A)
c.2152C>A (n.2152C>A)
c.1772C>A (p.Thr591Lys)
c.1820C>A (p.Thr607Lys)
c.1916C>A (p.Thr639Lys)
c.1862C>A (p.Thr621Lys)
c.1823C>A (p.Thr608Lys)
18g.33739344C>GCA402176922ASXL3c.1943C>G (p.Thr648Arg)
c.1940C>G (p.Thr647Arg)
c.*1064C>G (n.*1064C>G)
c.*1599C>G (n.*1599C>G)
c.2152C>G (n.2152C>G)
c.1772C>G (p.Thr591Arg)
c.1820C>G (p.Thr607Arg)
c.1916C>G (p.Thr639Arg)
c.1862C>G (p.Thr621Arg)
c.1823C>G (p.Thr608Arg)
gnomAD v4
18g.33739344C>TCA402176923ASXL3c.1943C>T (p.Thr648Ile)
c.1940C>T (p.Thr647Ile)
c.*1064C>T (n.*1064C>T)
c.*1599C>T (n.*1599C>T)
c.2152C>T (n.2152C>T)
c.1772C>T (p.Thr591Ile)
c.1820C>T (p.Thr607Ile)
c.1916C>T (p.Thr639Ile)
c.1862C>T (p.Thr621Ile)
c.1823C>T (p.Thr608Ile)
18g.33739345A=CA2294855937ASXL3c.1944A= (p.Thr648=)
c.1941A= (p.Thr647=)
c.*1065A= (n.*1065A=)
c.*1600A= (n.*1600A=)
c.2153A= (n.2153A=)
c.1773A= (p.Thr591=)
c.1821A= (p.Thr607=)
c.1917A= (p.Thr639=)
c.1863A= (p.Thr621=)
c.1824A= (p.Thr608=)
18g.33739345A>CCA503768968ASXL3c.1944A>C (p.Thr648=)
c.1941A>C (p.Thr647=)
c.*1065A>C (n.*1065A>C)
c.*1600A>C (n.*1600A>C)
c.2153A>C (n.2153A>C)
c.1773A>C (p.Thr591=)
c.1821A>C (p.Thr607=)
c.1917A>C (p.Thr639=)
c.1863A>C (p.Thr621=)
c.1824A>C (p.Thr608=)
18g.33739345A>GCA503768969ASXL3c.1944A>G (p.Thr648=)
c.1941A>G (p.Thr647=)
c.*1065A>G (n.*1065A>G)
c.*1600A>G (n.*1600A>G)
c.2153A>G (n.2153A>G)
c.1773A>G (p.Thr591=)
c.1821A>G (p.Thr607=)
c.1917A>G (p.Thr639=)
c.1863A>G (p.Thr621=)
c.1824A>G (p.Thr608=)
dbSNP
18g.33739345A>TCA503768970ASXL3c.1944A>T (p.Thr648=)
c.1941A>T (p.Thr647=)
c.*1065A>T (n.*1065A>T)
c.*1600A>T (n.*1600A>T)
c.2153A>T (n.2153A>T)
c.1773A>T (p.Thr591=)
c.1821A>T (p.Thr607=)
c.1917A>T (p.Thr639=)
c.1863A>T (p.Thr621=)
c.1824A>T (p.Thr608=)
18g.33739346A=CA2294855938ASXL3c.1945A= (p.Thr649=)
c.1942A= (p.Thr648=)
c.*1066A= (n.*1066A=)
c.*1601A= (n.*1601A=)
c.2154A= (n.2154A=)
c.1774A= (p.Thr592=)
c.1822A= (p.Thr608=)
c.1918A= (p.Thr640=)
c.1864A= (p.Thr622=)
c.1825A= (p.Thr609=)
18g.33739346A>CCA402176924ASXL3c.1945A>C (p.Thr649Pro)
c.1942A>C (p.Thr648Pro)
c.*1066A>C (n.*1066A>C)
c.*1601A>C (n.*1601A>C)
c.2154A>C (n.2154A>C)
c.1774A>C (p.Thr592Pro)
c.1822A>C (p.Thr608Pro)
c.1918A>C (p.Thr640Pro)
c.1864A>C (p.Thr622Pro)
c.1825A>C (p.Thr609Pro)
gnomAD v4
18g.33739346A>GCA297787134ASXL3c.1945A>G (p.Thr649Ala)
c.1942A>G (p.Thr648Ala)
c.*1066A>G (n.*1066A>G)
c.*1601A>G (n.*1601A>G)
c.2154A>G (n.2154A>G)
c.1774A>G (p.Thr592Ala)
c.1822A>G (p.Thr608Ala)
c.1918A>G (p.Thr640Ala)
c.1864A>G (p.Thr622Ala)
c.1825A>G (p.Thr609Ala)
dbSNP gnomAD v2 gnomAD v4
18g.33739346A>TCA402176925ASXL3c.1945A>T (p.Thr649Ser)
c.1942A>T (p.Thr648Ser)
c.*1066A>T (n.*1066A>T)
c.*1601A>T (n.*1601A>T)
c.2154A>T (n.2154A>T)
c.1774A>T (p.Thr592Ser)
c.1822A>T (p.Thr608Ser)
c.1918A>T (p.Thr640Ser)
c.1864A>T (p.Thr622Ser)
c.1825A>T (p.Thr609Ser)
18g.33739347C>ACA402176926ASXL3c.1946C>A (p.Thr649Lys)
c.1943C>A (p.Thr648Lys)
c.*1067C>A (n.*1067C>A)
c.*1602C>A (n.*1602C>A)
c.2155C>A (n.2155C>A)
c.1775C>A (p.Thr592Lys)
c.1823C>A (p.Thr608Lys)
c.1919C>A (p.Thr640Lys)
c.1865C>A (p.Thr622Lys)
c.1826C>A (p.Thr609Lys)
18g.33739347C=CA2294855939ASXL3c.1946C= (p.Thr649=)
c.1943C= (p.Thr648=)
c.*1067C= (n.*1067C=)
c.*1602C= (n.*1602C=)
c.2155C= (n.2155C=)
c.1775C= (p.Thr592=)
c.1823C= (p.Thr608=)
c.1919C= (p.Thr640=)
c.1865C= (p.Thr622=)
c.1826C= (p.Thr609=)
18g.33739347C>GCA402176927ASXL3c.1946C>G (p.Thr649Arg)
c.1943C>G (p.Thr648Arg)
c.*1067C>G (n.*1067C>G)
c.*1602C>G (n.*1602C>G)
c.2155C>G (n.2155C>G)
c.1775C>G (p.Thr592Arg)
c.1823C>G (p.Thr608Arg)
c.1919C>G (p.Thr640Arg)
c.1865C>G (p.Thr622Arg)
c.1826C>G (p.Thr609Arg)
18g.33739347C>TCA297787137ASXL3c.1946C>T (p.Thr649Ile)
c.1943C>T (p.Thr648Ile)
c.*1067C>T (n.*1067C>T)
c.*1602C>T (n.*1602C>T)
c.2155C>T (n.2155C>T)
c.1775C>T (p.Thr592Ile)
c.1823C>T (p.Thr608Ile)
c.1919C>T (p.Thr640Ile)
c.1865C>T (p.Thr622Ile)
c.1826C>T (p.Thr609Ile)
dbSNP gnomAD v4
18g.33739348A>CCA503768973ASXL3c.1947A>C (p.Thr649=)
c.1944A>C (p.Thr648=)
c.*1068A>C (n.*1068A>C)
c.*1603A>C (n.*1603A>C)
c.2156A>C (n.2156A>C)
c.1776A>C (p.Thr592=)
c.1824A>C (p.Thr608=)
c.1920A>C (p.Thr640=)
c.1866A>C (p.Thr622=)
c.1827A>C (p.Thr609=)
18g.33739348A>GCA503768975ASXL3c.1947A>G (p.Thr649=)
c.1944A>G (p.Thr648=)
c.*1068A>G (n.*1068A>G)
c.*1603A>G (n.*1603A>G)
c.2156A>G (n.2156A>G)
c.1776A>G (p.Thr592=)
c.1824A>G (p.Thr608=)
c.1920A>G (p.Thr640=)
c.1866A>G (p.Thr622=)
c.1827A>G (p.Thr609=)
18g.33739348A>TCA503768976ASXL3c.1947A>T (p.Thr649=)
c.1944A>T (p.Thr648=)
c.*1068A>T (n.*1068A>T)
c.*1603A>T (n.*1603A>T)
c.2156A>T (n.2156A>T)
c.1776A>T (p.Thr592=)
c.1824A>T (p.Thr608=)
c.1920A>T (p.Thr640=)
c.1866A>T (p.Thr622=)
c.1827A>T (p.Thr609=)
18g.33739349T>ACA297787140ASXL3c.1948T>A (p.Phe650Ile)
c.1945T>A (p.Phe649Ile)
c.*1069T>A (n.*1069T>A)
c.*1604T>A (n.*1604T>A)
c.2157T>A (n.2157T>A)
c.1777T>A (p.Phe593Ile)
c.1825T>A (p.Phe609Ile)
c.1921T>A (p.Phe641Ile)
c.1867T>A (p.Phe623Ile)
c.1828T>A (p.Phe610Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739349T>CCA402176928ASXL3c.1948T>C (p.Phe650Leu)
c.1945T>C (p.Phe649Leu)
c.*1069T>C (n.*1069T>C)
c.*1604T>C (n.*1604T>C)
c.2157T>C (n.2157T>C)
c.1777T>C (p.Phe593Leu)
c.1825T>C (p.Phe609Leu)
c.1921T>C (p.Phe641Leu)
c.1867T>C (p.Phe623Leu)
c.1828T>C (p.Phe610Leu)
gnomAD v4
18g.33739349T>GCA402176929ASXL3c.1948T>G (p.Phe650Val)
c.1945T>G (p.Phe649Val)
c.*1069T>G (n.*1069T>G)
c.*1604T>G (n.*1604T>G)
c.2157T>G (n.2157T>G)
c.1777T>G (p.Phe593Val)
c.1825T>G (p.Phe609Val)
c.1921T>G (p.Phe641Val)
c.1867T>G (p.Phe623Val)
c.1828T>G (p.Phe610Val)
dbSNP
18g.33739349T=CA2294855940ASXL3c.1948T= (p.Phe650=)
c.1945T= (p.Phe649=)
c.*1069T= (n.*1069T=)
c.*1604T= (n.*1604T=)
c.2157T= (n.2157T=)
c.1777T= (p.Phe593=)
c.1825T= (p.Phe609=)
c.1921T= (p.Phe641=)
c.1867T= (p.Phe623=)
c.1828T= (p.Phe610=)
18g.33739350T>ACA402176930ASXL3c.1949T>A (p.Phe650Tyr)
c.1946T>A (p.Phe649Tyr)
c.*1070T>A (n.*1070T>A)
c.*1605T>A (n.*1605T>A)
c.2158T>A (n.2158T>A)
c.1778T>A (p.Phe593Tyr)
c.1826T>A (p.Phe609Tyr)
c.1922T>A (p.Phe641Tyr)
c.1868T>A (p.Phe623Tyr)
c.1829T>A (p.Phe610Tyr)
18g.33739350T>CCA402176932ASXL3c.1949T>C (p.Phe650Ser)
c.1946T>C (p.Phe649Ser)
c.*1070T>C (n.*1070T>C)
c.*1605T>C (n.*1605T>C)
c.2158T>C (n.2158T>C)
c.1778T>C (p.Phe593Ser)
c.1826T>C (p.Phe609Ser)
c.1922T>C (p.Phe641Ser)
c.1868T>C (p.Phe623Ser)
c.1829T>C (p.Phe610Ser)
18g.33739350T>GCA402176931ASXL3c.1949T>G (p.Phe650Cys)
c.1946T>G (p.Phe649Cys)
c.*1070T>G (n.*1070T>G)
c.*1605T>G (n.*1605T>G)
c.2158T>G (n.2158T>G)
c.1778T>G (p.Phe593Cys)
c.1826T>G (p.Phe609Cys)
c.1922T>G (p.Phe641Cys)
c.1868T>G (p.Phe623Cys)
c.1829T>G (p.Phe610Cys)
18g.33739351T>ACA402176933ASXL3c.1950T>A (p.Phe650Leu)
c.1947T>A (p.Phe649Leu)
c.*1071T>A (n.*1071T>A)
c.*1606T>A (n.*1606T>A)
c.2159T>A (n.2159T>A)
c.1779T>A (p.Phe593Leu)
c.1827T>A (p.Phe609Leu)
c.1923T>A (p.Phe641Leu)
c.1869T>A (p.Phe623Leu)
c.1830T>A (p.Phe610Leu)
18g.33739351T>CCA503768638ASXL3c.1950T>C (p.Phe650=)
c.1947T>C (p.Phe649=)
c.*1071T>C (n.*1071T>C)
c.*1606T>C (n.*1606T>C)
c.2159T>C (n.2159T>C)
c.1779T>C (p.Phe593=)
c.1827T>C (p.Phe609=)
c.1923T>C (p.Phe641=)
c.1869T>C (p.Phe623=)
c.1830T>C (p.Phe610=)
18g.33739351T>GCA402176934ASXL3c.1950T>G (p.Phe650Leu)
c.1947T>G (p.Phe649Leu)
c.*1071T>G (n.*1071T>G)
c.*1606T>G (n.*1606T>G)
c.2159T>G (n.2159T>G)
c.1779T>G (p.Phe593Leu)
c.1827T>G (p.Phe609Leu)
c.1923T>G (p.Phe641Leu)
c.1869T>G (p.Phe623Leu)
c.1830T>G (p.Phe610Leu)

Number of alleles fetched