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.33739394C>ACA402177030ASXL3c.1993C>A (p.Gln665Lys)
c.1990C>A (p.Gln664Lys)
c.*1114C>A (n.*1114C>A)
c.*1649C>A (n.*1649C>A)
c.2202C>A (n.2202C>A)
c.1822C>A (p.Gln608Lys)
c.1870C>A (p.Gln624Lys)
c.1966C>A (p.Gln656Lys)
c.1912C>A (p.Gln638Lys)
c.1873C>A (p.Gln625Lys)
18g.33739394C=CA2294855957ASXL3c.1993C= (p.Gln665=)
c.1990C= (p.Gln664=)
c.*1114C= (n.*1114C=)
c.*1649C= (n.*1649C=)
c.2202C= (n.2202C=)
c.1822C= (p.Gln608=)
c.1870C= (p.Gln624=)
c.1966C= (p.Gln656=)
c.1912C= (p.Gln638=)
c.1873C= (p.Gln625=)
18g.33739394C>GCA8933849ASXL3c.1993C>G (p.Gln665Glu)
c.1990C>G (p.Gln664Glu)
c.*1114C>G (n.*1114C>G)
c.*1649C>G (n.*1649C>G)
c.2202C>G (n.2202C>G)
c.1822C>G (p.Gln608Glu)
c.1870C>G (p.Gln624Glu)
c.1966C>G (p.Gln656Glu)
c.1912C>G (p.Gln638Glu)
c.1873C>G (p.Gln625Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739394C>TCA402177031ASXL3c.1993C>T (p.Gln665Ter)
c.1990C>T (p.Gln664Ter)
c.*1114C>T (n.*1114C>T)
c.*1649C>T (n.*1649C>T)
c.2202C>T (n.2202C>T)
c.1822C>T (p.Gln608Ter)
c.1870C>T (p.Gln624Ter)
c.1966C>T (p.Gln656Ter)
c.1912C>T (p.Gln638Ter)
c.1873C>T (p.Gln625Ter)
 ClinVar
18g.33739395A=CA2294855958ASXL3c.1994A= (p.Gln665=)
c.1991A= (p.Gln664=)
c.*1115A= (n.*1115A=)
c.*1650A= (n.*1650A=)
c.2203A= (n.2203A=)
c.1823A= (p.Gln608=)
c.1871A= (p.Gln624=)
c.1967A= (p.Gln656=)
c.1913A= (p.Gln638=)
c.1874A= (p.Gln625=)
18g.33739395A>CCA402177032ASXL3c.1994A>C (p.Gln665Pro)
c.1991A>C (p.Gln664Pro)
c.*1115A>C (n.*1115A>C)
c.*1650A>C (n.*1650A>C)
c.2203A>C (n.2203A>C)
c.1823A>C (p.Gln608Pro)
c.1871A>C (p.Gln624Pro)
c.1967A>C (p.Gln656Pro)
c.1913A>C (p.Gln638Pro)
c.1874A>C (p.Gln625Pro)
18g.33739395A>GCA8933850ASXL3c.1994A>G (p.Gln665Arg)
c.1991A>G (p.Gln664Arg)
c.*1115A>G (n.*1115A>G)
c.*1650A>G (n.*1650A>G)
c.2203A>G (n.2203A>G)
c.1823A>G (p.Gln608Arg)
c.1871A>G (p.Gln624Arg)
c.1967A>G (p.Gln656Arg)
c.1913A>G (p.Gln638Arg)
c.1874A>G (p.Gln625Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739395A>TCA402177033ASXL3c.1994A>T (p.Gln665Leu)
c.1991A>T (p.Gln664Leu)
c.*1115A>T (n.*1115A>T)
c.*1650A>T (n.*1650A>T)
c.2203A>T (n.2203A>T)
c.1823A>T (p.Gln608Leu)
c.1871A>T (p.Gln624Leu)
c.1967A>T (p.Gln656Leu)
c.1913A>T (p.Gln638Leu)
c.1874A>T (p.Gln625Leu)
18g.33739396G>ACA503768734ASXL3c.1995G>A (p.Gln665=)
c.1992G>A (p.Gln664=)
c.*1116G>A (n.*1116G>A)
c.*1651G>A (n.*1651G>A)
c.2204G>A (n.2204G>A)
c.1824G>A (p.Gln608=)
c.1872G>A (p.Gln624=)
c.1968G>A (p.Gln656=)
c.1914G>A (p.Gln638=)
c.1875G>A (p.Gln625=)
18g.33739396G>CCA402177034ASXL3c.1995G>C (p.Gln665His)
c.1992G>C (p.Gln664His)
c.*1116G>C (n.*1116G>C)
c.*1651G>C (n.*1651G>C)
c.2204G>C (n.2204G>C)
c.1824G>C (p.Gln608His)
c.1872G>C (p.Gln624His)
c.1968G>C (p.Gln656His)
c.1914G>C (p.Gln638His)
c.1875G>C (p.Gln625His)
18g.33739396G>TCA402177035ASXL3c.1995G>T (p.Gln665His)
c.1992G>T (p.Gln664His)
c.*1116G>T (n.*1116G>T)
c.*1651G>T (n.*1651G>T)
c.2204G>T (n.2204G>T)
c.1824G>T (p.Gln608His)
c.1872G>T (p.Gln624His)
c.1968G>T (p.Gln656His)
c.1914G>T (p.Gln638His)
c.1875G>T (p.Gln625His)
18g.33739397A>CCA503768739ASXL3c.1996A>C (p.Arg666=)
c.1993A>C (p.Arg665=)
c.*1117A>C (n.*1117A>C)
c.*1652A>C (n.*1652A>C)
c.2205A>C (n.2205A>C)
c.1825A>C (p.Arg609=)
c.1873A>C (p.Arg625=)
c.1969A>C (p.Arg657=)
c.1915A>C (p.Arg639=)
c.1876A>C (p.Arg626=)
18g.33739397A>GCA402177036ASXL3c.1996A>G (p.Arg666Gly)
c.1993A>G (p.Arg665Gly)
c.*1117A>G (n.*1117A>G)
c.*1652A>G (n.*1652A>G)
c.2205A>G (n.2205A>G)
c.1825A>G (p.Arg609Gly)
c.1873A>G (p.Arg625Gly)
c.1969A>G (p.Arg657Gly)
c.1915A>G (p.Arg639Gly)
c.1876A>G (p.Arg626Gly)
 gnomAD v4
18g.33739397A>TCA402177037ASXL3c.1996A>T (p.Arg666Ter)
c.1993A>T (p.Arg665Ter)
c.*1117A>T (n.*1117A>T)
c.*1652A>T (n.*1652A>T)
c.2205A>T (n.2205A>T)
c.1825A>T (p.Arg609Ter)
c.1873A>T (p.Arg625Ter)
c.1969A>T (p.Arg657Ter)
c.1915A>T (p.Arg639Ter)
c.1876A>T (p.Arg626Ter)
18g.33739398G>ACA402177038ASXL3c.1997G>A (p.Arg666Lys)
c.1994G>A (p.Arg665Lys)
c.*1118G>A (n.*1118G>A)
c.*1653G>A (n.*1653G>A)
c.2206G>A (n.2206G>A)
c.1826G>A (p.Arg609Lys)
c.1874G>A (p.Arg625Lys)
c.1970G>A (p.Arg657Lys)
c.1916G>A (p.Arg639Lys)
c.1877G>A (p.Arg626Lys)
18g.33739398G>CCA402177039ASXL3c.1997G>C (p.Arg666Thr)
c.1994G>C (p.Arg665Thr)
c.*1118G>C (n.*1118G>C)
c.*1653G>C (n.*1653G>C)
c.2206G>C (n.2206G>C)
c.1826G>C (p.Arg609Thr)
c.1874G>C (p.Arg625Thr)
c.1970G>C (p.Arg657Thr)
c.1916G>C (p.Arg639Thr)
c.1877G>C (p.Arg626Thr)
18g.33739398G>TCA402177040ASXL3c.1997G>T (p.Arg666Ile)
c.1994G>T (p.Arg665Ile)
c.*1118G>T (n.*1118G>T)
c.*1653G>T (n.*1653G>T)
c.2206G>T (n.2206G>T)
c.1826G>T (p.Arg609Ile)
c.1874G>T (p.Arg625Ile)
c.1970G>T (p.Arg657Ile)
c.1916G>T (p.Arg639Ile)
c.1877G>T (p.Arg626Ile)
18g.33739399A=CA2294855959ASXL3c.1998A= (p.Arg666=)
c.1995A= (p.Arg665=)
c.*1119A= (n.*1119A=)
c.*1654A= (n.*1654A=)
c.2207A= (n.2207A=)
c.1827A= (p.Arg609=)
c.1875A= (p.Arg625=)
c.1971A= (p.Arg657=)
c.1917A= (p.Arg639=)
c.1878A= (p.Arg626=)
18g.33739399A>CCA402177041ASXL3c.1998A>C (p.Arg666Ser)
c.1995A>C (p.Arg665Ser)
c.*1119A>C (n.*1119A>C)
c.*1654A>C (n.*1654A>C)
c.2207A>C (n.2207A>C)
c.1827A>C (p.Arg609Ser)
c.1875A>C (p.Arg625Ser)
c.1971A>C (p.Arg657Ser)
c.1917A>C (p.Arg639Ser)
c.1878A>C (p.Arg626Ser)
 gnomAD v4
18g.33739399A>GCA8933851ASXL3c.1998A>G (p.Arg666=)
c.1995A>G (p.Arg665=)
c.*1119A>G (n.*1119A>G)
c.*1654A>G (n.*1654A>G)
c.2207A>G (n.2207A>G)
c.1827A>G (p.Arg609=)
c.1875A>G (p.Arg625=)
c.1971A>G (p.Arg657=)
c.1917A>G (p.Arg639=)
c.1878A>G (p.Arg626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739399A>TCA402177042ASXL3c.1998A>T (p.Arg666Ser)
c.1995A>T (p.Arg665Ser)
c.*1119A>T (n.*1119A>T)
c.*1654A>T (n.*1654A>T)
c.2207A>T (n.2207A>T)
c.1827A>T (p.Arg609Ser)
c.1875A>T (p.Arg625Ser)
c.1971A>T (p.Arg657Ser)
c.1917A>T (p.Arg639Ser)
c.1878A>T (p.Arg626Ser)
18g.33739400A=CA2294855960ASXL3c.1999A= (p.Asn667=)
c.1996A= (p.Asn666=)
c.*1120A= (n.*1120A=)
c.*1655A= (n.*1655A=)
c.2208A= (n.2208A=)
c.1828A= (p.Asn610=)
c.1876A= (p.Asn626=)
c.1972A= (p.Asn658=)
c.1918A= (p.Asn640=)
c.1879A= (p.Asn627=)
18g.33739400A>CCA402177043ASXL3c.1999A>C (p.Asn667His)
c.1996A>C (p.Asn666His)
c.*1120A>C (n.*1120A>C)
c.*1655A>C (n.*1655A>C)
c.2208A>C (n.2208A>C)
c.1828A>C (p.Asn610His)
c.1876A>C (p.Asn626His)
c.1972A>C (p.Asn658His)
c.1918A>C (p.Asn640His)
c.1879A>C (p.Asn627His)
18g.33739400A>GCA8933852ASXL3c.1999A>G (p.Asn667Asp)
c.1996A>G (p.Asn666Asp)
c.*1120A>G (n.*1120A>G)
c.*1655A>G (n.*1655A>G)
c.2208A>G (n.2208A>G)
c.1828A>G (p.Asn610Asp)
c.1876A>G (p.Asn626Asp)
c.1972A>G (p.Asn658Asp)
c.1918A>G (p.Asn640Asp)
c.1879A>G (p.Asn627Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739400A>TCA402177044ASXL3c.1999A>T (p.Asn667Tyr)
c.1996A>T (p.Asn666Tyr)
c.*1120A>T (n.*1120A>T)
c.*1655A>T (n.*1655A>T)
c.2208A>T (n.2208A>T)
c.1828A>T (p.Asn610Tyr)
c.1876A>T (p.Asn626Tyr)
c.1972A>T (p.Asn658Tyr)
c.1918A>T (p.Asn640Tyr)
c.1879A>T (p.Asn627Tyr)
18g.33739401A=CA2294855961ASXL3c.2000A= (p.Asn667=)
c.1997A= (p.Asn666=)
c.*1121A= (n.*1121A=)
c.*1656A= (n.*1656A=)
c.2209A= (n.2209A=)
c.1829A= (p.Asn610=)
c.1877A= (p.Asn626=)
c.1973A= (p.Asn658=)
c.1919A= (p.Asn640=)
c.1880A= (p.Asn627=)
18g.33739401A>CCA402177046ASXL3c.2000A>C (p.Asn667Thr)
c.1997A>C (p.Asn666Thr)
c.*1121A>C (n.*1121A>C)
c.*1656A>C (n.*1656A>C)
c.2209A>C (n.2209A>C)
c.1829A>C (p.Asn610Thr)
c.1877A>C (p.Asn626Thr)
c.1973A>C (p.Asn658Thr)
c.1919A>C (p.Asn640Thr)
c.1880A>C (p.Asn627Thr)
18g.33739401A>GCA297787183ASXL3c.2000A>G (p.Asn667Ser)
c.1997A>G (p.Asn666Ser)
c.*1121A>G (n.*1121A>G)
c.*1656A>G (n.*1656A>G)
c.2209A>G (n.2209A>G)
c.1829A>G (p.Asn610Ser)
c.1877A>G (p.Asn626Ser)
c.1973A>G (p.Asn658Ser)
c.1919A>G (p.Asn640Ser)
c.1880A>G (p.Asn627Ser)
 dbSNP gnomAD v4
18g.33739401A>TCA402177045ASXL3c.2000A>T (p.Asn667Ile)
c.1997A>T (p.Asn666Ile)
c.*1121A>T (n.*1121A>T)
c.*1656A>T (n.*1656A>T)
c.2209A>T (n.2209A>T)
c.1829A>T (p.Asn610Ile)
c.1877A>T (p.Asn626Ile)
c.1973A>T (p.Asn658Ile)
c.1919A>T (p.Asn640Ile)
c.1880A>T (p.Asn627Ile)
18g.33739402T>ACA402177047ASXL3c.2001T>A (p.Asn667Lys)
c.1998T>A (p.Asn666Lys)
c.*1122T>A (n.*1122T>A)
c.*1657T>A (n.*1657T>A)
c.2210T>A (n.2210T>A)
c.1830T>A (p.Asn610Lys)
c.1878T>A (p.Asn626Lys)
c.1974T>A (p.Asn658Lys)
c.1920T>A (p.Asn640Lys)
c.1881T>A (p.Asn627Lys)
18g.33739402T>CCA503768742ASXL3c.2001T>C (p.Asn667=)
c.1998T>C (p.Asn666=)
c.*1122T>C (n.*1122T>C)
c.*1657T>C (n.*1657T>C)
c.2210T>C (n.2210T>C)
c.1830T>C (p.Asn610=)
c.1878T>C (p.Asn626=)
c.1974T>C (p.Asn658=)
c.1920T>C (p.Asn640=)
c.1881T>C (p.Asn627=)
18g.33739402T>GCA402177048ASXL3c.2001T>G (p.Asn667Lys)
c.1998T>G (p.Asn666Lys)
c.*1122T>G (n.*1122T>G)
c.*1657T>G (n.*1657T>G)
c.2210T>G (n.2210T>G)
c.1830T>G (p.Asn610Lys)
c.1878T>G (p.Asn626Lys)
c.1974T>G (p.Asn658Lys)
c.1920T>G (p.Asn640Lys)
c.1881T>G (p.Asn627Lys)
18g.33739403T>ACA402177049ASXL3c.2002T>A (p.Ser668Thr)
c.1999T>A (p.Ser667Thr)
c.*1123T>A (n.*1123T>A)
c.*1658T>A (n.*1658T>A)
c.2211T>A (n.2211T>A)
c.1831T>A (p.Ser611Thr)
c.1879T>A (p.Ser627Thr)
c.1975T>A (p.Ser659Thr)
c.1921T>A (p.Ser641Thr)
c.1882T>A (p.Ser628Thr)
18g.33739403T>CCA402177050ASXL3c.2002T>C (p.Ser668Pro)
c.1999T>C (p.Ser667Pro)
c.*1123T>C (n.*1123T>C)
c.*1658T>C (n.*1658T>C)
c.2211T>C (n.2211T>C)
c.1831T>C (p.Ser611Pro)
c.1879T>C (p.Ser627Pro)
c.1975T>C (p.Ser659Pro)
c.1921T>C (p.Ser641Pro)
c.1882T>C (p.Ser628Pro)
 gnomAD v4
18g.33739403T>GCA402177051ASXL3c.2002T>G (p.Ser668Ala)
c.1999T>G (p.Ser667Ala)
c.*1123T>G (n.*1123T>G)
c.*1658T>G (n.*1658T>G)
c.2211T>G (n.2211T>G)
c.1831T>G (p.Ser611Ala)
c.1879T>G (p.Ser627Ala)
c.1975T>G (p.Ser659Ala)
c.1921T>G (p.Ser641Ala)
c.1882T>G (p.Ser628Ala)
18g.33739404C>ACA402177052ASXL3c.2003C>A (p.Ser668Tyr)
c.2000C>A (p.Ser667Tyr)
c.*1124C>A (n.*1124C>A)
c.*1659C>A (n.*1659C>A)
c.2212C>A (n.2212C>A)
c.1832C>A (p.Ser611Tyr)
c.1880C>A (p.Ser627Tyr)
c.1976C>A (p.Ser659Tyr)
c.1922C>A (p.Ser641Tyr)
c.1883C>A (p.Ser628Tyr)
18g.33739404C>GCA402177053ASXL3c.2003C>G (p.Ser668Cys)
c.2000C>G (p.Ser667Cys)
c.*1124C>G (n.*1124C>G)
c.*1659C>G (n.*1659C>G)
c.2212C>G (n.2212C>G)
c.1832C>G (p.Ser611Cys)
c.1880C>G (p.Ser627Cys)
c.1976C>G (p.Ser659Cys)
c.1922C>G (p.Ser641Cys)
c.1883C>G (p.Ser628Cys)
18g.33739404C>TCA402177054ASXL3c.2003C>T (p.Ser668Phe)
c.2000C>T (p.Ser667Phe)
c.*1124C>T (n.*1124C>T)
c.*1659C>T (n.*1659C>T)
c.2212C>T (n.2212C>T)
c.1832C>T (p.Ser611Phe)
c.1880C>T (p.Ser627Phe)
c.1976C>T (p.Ser659Phe)
c.1922C>T (p.Ser641Phe)
c.1883C>T (p.Ser628Phe)
18g.33739405C>ACA503768747ASXL3c.2004C>A (p.Ser668=)
c.2001C>A (p.Ser667=)
c.*1125C>A (n.*1125C>A)
c.*1660C>A (n.*1660C>A)
c.2213C>A (n.2213C>A)
c.1833C>A (p.Ser611=)
c.1881C>A (p.Ser627=)
c.1977C>A (p.Ser659=)
c.1923C>A (p.Ser641=)
c.1884C>A (p.Ser628=)
18g.33739405C>GCA503768748ASXL3c.2004C>G (p.Ser668=)
c.2001C>G (p.Ser667=)
c.*1125C>G (n.*1125C>G)
c.*1660C>G (n.*1660C>G)
c.2213C>G (n.2213C>G)
c.1833C>G (p.Ser611=)
c.1881C>G (p.Ser627=)
c.1977C>G (p.Ser659=)
c.1923C>G (p.Ser641=)
c.1884C>G (p.Ser628=)
 gnomAD v4
18g.33739405C>TCA503768749ASXL3c.2004C>T (p.Ser668=)
c.2001C>T (p.Ser667=)
c.*1125C>T (n.*1125C>T)
c.*1660C>T (n.*1660C>T)
c.2213C>T (n.2213C>T)
c.1833C>T (p.Ser611=)
c.1881C>T (p.Ser627=)
c.1977C>T (p.Ser659=)
c.1923C>T (p.Ser641=)
c.1884C>T (p.Ser628=)
 COSMIC COSMIC
18g.33739406delCA2573155244ASXL3c.2005del (p.Thr669LeufsTer9)
c.2002del (p.Thr668LeufsTer9)
c.*1126del (n.*1126del)
c.*1661del (n.*1661del)
c.2214del (n.2214del)
c.1834del (p.Thr612LeufsTer9)
c.1882del (p.Thr628LeufsTer9)
c.1978del (p.Thr660LeufsTer9)
c.1924del (p.Thr642LeufsTer9)
c.1885del (p.Thr629LeufsTer9)
 ClinVar dbSNP
18g.33739406A>CCA402177055ASXL3c.2005A>C (p.Thr669Pro)
c.2002A>C (p.Thr668Pro)
c.*1126A>C (n.*1126A>C)
c.*1661A>C (n.*1661A>C)
c.2214A>C (n.2214A>C)
c.1834A>C (p.Thr612Pro)
c.1882A>C (p.Thr628Pro)
c.1978A>C (p.Thr660Pro)
c.1924A>C (p.Thr642Pro)
c.1885A>C (p.Thr629Pro)
18g.33739406A>GCA402177056ASXL3c.2005A>G (p.Thr669Ala)
c.2002A>G (p.Thr668Ala)
c.*1126A>G (n.*1126A>G)
c.*1661A>G (n.*1661A>G)
c.2214A>G (n.2214A>G)
c.1834A>G (p.Thr612Ala)
c.1882A>G (p.Thr628Ala)
c.1978A>G (p.Thr660Ala)
c.1924A>G (p.Thr642Ala)
c.1885A>G (p.Thr629Ala)
18g.33739406A>TCA402177057ASXL3c.2005A>T (p.Thr669Ser)
c.2002A>T (p.Thr668Ser)
c.*1126A>T (n.*1126A>T)
c.*1661A>T (n.*1661A>T)
c.2214A>T (n.2214A>T)
c.1834A>T (p.Thr612Ser)
c.1882A>T (p.Thr628Ser)
c.1978A>T (p.Thr660Ser)
c.1924A>T (p.Thr642Ser)
c.1885A>T (p.Thr629Ser)
 gnomAD v4
18g.33739407C>ACA402177058ASXL3c.2006C>A (p.Thr669Asn)
c.2003C>A (p.Thr668Asn)
c.*1127C>A (n.*1127C>A)
c.*1662C>A (n.*1662C>A)
c.2215C>A (n.2215C>A)
c.1835C>A (p.Thr612Asn)
c.1883C>A (p.Thr628Asn)
c.1979C>A (p.Thr660Asn)
c.1925C>A (p.Thr642Asn)
c.1886C>A (p.Thr629Asn)
18g.33739407C=CA2294855962ASXL3c.2006C= (p.Thr669=)
c.2003C= (p.Thr668=)
c.*1127C= (n.*1127C=)
c.*1662C= (n.*1662C=)
c.2215C= (n.2215C=)
c.1835C= (p.Thr612=)
c.1883C= (p.Thr628=)
c.1979C= (p.Thr660=)
c.1925C= (p.Thr642=)
c.1886C= (p.Thr629=)
18g.33739407C>GCA402177059ASXL3c.2006C>G (p.Thr669Ser)
c.2003C>G (p.Thr668Ser)
c.*1127C>G (n.*1127C>G)
c.*1662C>G (n.*1662C>G)
c.2215C>G (n.2215C>G)
c.1835C>G (p.Thr612Ser)
c.1883C>G (p.Thr628Ser)
c.1979C>G (p.Thr660Ser)
c.1925C>G (p.Thr642Ser)
c.1886C>G (p.Thr629Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33739407C>TCA402177060ASXL3c.2006C>T (p.Thr669Ile)
c.2003C>T (p.Thr668Ile)
c.*1127C>T (n.*1127C>T)
c.*1662C>T (n.*1662C>T)
c.2215C>T (n.2215C>T)
c.1835C>T (p.Thr612Ile)
c.1883C>T (p.Thr628Ile)
c.1979C>T (p.Thr660Ile)
c.1925C>T (p.Thr642Ile)
c.1886C>T (p.Thr629Ile)
18g.33739408T>ACA503768754ASXL3c.2007T>A (p.Thr669=)
c.2004T>A (p.Thr668=)
c.*1128T>A (n.*1128T>A)
c.*1663T>A (n.*1663T>A)
c.2216T>A (n.2216T>A)
c.1836T>A (p.Thr612=)
c.1884T>A (p.Thr628=)
c.1980T>A (p.Thr660=)
c.1926T>A (p.Thr642=)
c.1887T>A (p.Thr629=)
18g.33739408T>CCA8933853ASXL3c.2007T>C (p.Thr669=)
c.2004T>C (p.Thr668=)
c.*1128T>C (n.*1128T>C)
c.*1663T>C (n.*1663T>C)
c.2216T>C (n.2216T>C)
c.1836T>C (p.Thr612=)
c.1884T>C (p.Thr628=)
c.1980T>C (p.Thr660=)
c.1926T>C (p.Thr642=)
c.1887T>C (p.Thr629=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739408T>GCA503768759ASXL3c.2007T>G (p.Thr669=)
c.2004T>G (p.Thr668=)
c.*1128T>G (n.*1128T>G)
c.*1663T>G (n.*1663T>G)
c.2216T>G (n.2216T>G)
c.1836T>G (p.Thr612=)
c.1884T>G (p.Thr628=)
c.1980T>G (p.Thr660=)
c.1926T>G (p.Thr642=)
c.1887T>G (p.Thr629=)
18g.33739408T=CA2294855963ASXL3c.2007T= (p.Thr669=)
c.2004T= (p.Thr668=)
c.*1128T= (n.*1128T=)
c.*1663T= (n.*1663T=)
c.2216T= (n.2216T=)
c.1836T= (p.Thr612=)
c.1884T= (p.Thr628=)
c.1980T= (p.Thr660=)
c.1926T= (p.Thr642=)
c.1887T= (p.Thr629=)
18g.33739411_33739413dupCA2576484114ASXL3c.2010_2012dup (p.Asp670_Glu671insAsp)
c.2007_2009dup (p.Asp669_Glu670insAsp)
c.*1131_*1133dup (n.*1131_*1133dup)
c.*1666_*1668dup (n.*1666_*1668dup)
c.2219_2221dup (n.2219_2221dup)
c.1839_1841dup (p.Asp613_Glu614insAsp)
c.1887_1889dup (p.Asp629_Glu630insAsp)
c.1983_1985dup (p.Asp661_Glu662insAsp)
c.1929_1931dup (p.Asp643_Glu644insAsp)
c.1890_1892dup (p.Asp630_Glu631insAsp)
18g.33739409G>ACA402177063ASXL3c.2008G>A (p.Asp670Asn)
c.2005G>A (p.Asp669Asn)
c.*1129G>A (n.*1129G>A)
c.*1664G>A (n.*1664G>A)
c.2217G>A (n.2217G>A)
c.1837G>A (p.Asp613Asn)
c.1885G>A (p.Asp629Asn)
c.1981G>A (p.Asp661Asn)
c.1927G>A (p.Asp643Asn)
c.1888G>A (p.Asp630Asn)
18g.33739409G>CCA402177062ASXL3c.2008G>C (p.Asp670His)
c.2005G>C (p.Asp669His)
c.*1129G>C (n.*1129G>C)
c.*1664G>C (n.*1664G>C)
c.2217G>C (n.2217G>C)
c.1837G>C (p.Asp613His)
c.1885G>C (p.Asp629His)
c.1981G>C (p.Asp661His)
c.1927G>C (p.Asp643His)
c.1888G>C (p.Asp630His)
18g.33739409G>TCA402177061ASXL3c.2008G>T (p.Asp670Tyr)
c.2005G>T (p.Asp669Tyr)
c.*1129G>T (n.*1129G>T)
c.*1664G>T (n.*1664G>T)
c.2217G>T (n.2217G>T)
c.1837G>T (p.Asp613Tyr)
c.1885G>T (p.Asp629Tyr)
c.1981G>T (p.Asp661Tyr)
c.1927G>T (p.Asp643Tyr)
c.1888G>T (p.Asp630Tyr)
18g.33739410A=CA2294855964ASXL3c.2009A= (p.Asp670=)
c.2006A= (p.Asp669=)
c.*1130A= (n.*1130A=)
c.*1665A= (n.*1665A=)
c.2218A= (n.2218A=)
c.1838A= (p.Asp613=)
c.1886A= (p.Asp629=)
c.1982A= (p.Asp661=)
c.1928A= (p.Asp643=)
c.1889A= (p.Asp630=)
18g.33739410A>CCA402177064ASXL3c.2009A>C (p.Asp670Ala)
c.2006A>C (p.Asp669Ala)
c.*1130A>C (n.*1130A>C)
c.*1665A>C (n.*1665A>C)
c.2218A>C (n.2218A>C)
c.1838A>C (p.Asp613Ala)
c.1886A>C (p.Asp629Ala)
c.1982A>C (p.Asp661Ala)
c.1928A>C (p.Asp643Ala)
c.1889A>C (p.Asp630Ala)
18g.33739410A>GCA402177065ASXL3c.2009A>G (p.Asp670Gly)
c.2006A>G (p.Asp669Gly)
c.*1130A>G (n.*1130A>G)
c.*1665A>G (n.*1665A>G)
c.2218A>G (n.2218A>G)
c.1838A>G (p.Asp613Gly)
c.1886A>G (p.Asp629Gly)
c.1982A>G (p.Asp661Gly)
c.1928A>G (p.Asp643Gly)
c.1889A>G (p.Asp630Gly)
 dbSNP gnomAD v4
18g.33739410A>TCA8933854ASXL3c.2009A>T (p.Asp670Val)
c.2006A>T (p.Asp669Val)
c.*1130A>T (n.*1130A>T)
c.*1665A>T (n.*1665A>T)
c.2218A>T (n.2218A>T)
c.1838A>T (p.Asp613Val)
c.1886A>T (p.Asp629Val)
c.1982A>T (p.Asp661Val)
c.1928A>T (p.Asp643Val)
c.1889A>T (p.Asp630Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.33739411T>ACA402177066ASXL3c.2010T>A (p.Asp670Glu)
c.2007T>A (p.Asp669Glu)
c.*1131T>A (n.*1131T>A)
c.*1666T>A (n.*1666T>A)
c.2219T>A (n.2219T>A)
c.1839T>A (p.Asp613Glu)
c.1887T>A (p.Asp629Glu)
c.1983T>A (p.Asp661Glu)
c.1929T>A (p.Asp643Glu)
c.1890T>A (p.Asp630Glu)
18g.33739411T>CCA503768766ASXL3c.2010T>C (p.Asp670=)
c.2007T>C (p.Asp669=)
c.*1131T>C (n.*1131T>C)
c.*1666T>C (n.*1666T>C)
c.2219T>C (n.2219T>C)
c.1839T>C (p.Asp613=)
c.1887T>C (p.Asp629=)
c.1983T>C (p.Asp661=)
c.1929T>C (p.Asp643=)
c.1890T>C (p.Asp630=)
18g.33739411T>GCA402177067ASXL3c.2010T>G (p.Asp670Glu)
c.2007T>G (p.Asp669Glu)
c.*1131T>G (n.*1131T>G)
c.*1666T>G (n.*1666T>G)
c.2219T>G (n.2219T>G)
c.1839T>G (p.Asp613Glu)
c.1887T>G (p.Asp629Glu)
c.1983T>G (p.Asp661Glu)
c.1929T>G (p.Asp643Glu)
c.1890T>G (p.Asp630Glu)
18g.33739412G>ACA402177068ASXL3c.2011G>A (p.Glu671Lys)
c.2008G>A (p.Glu670Lys)
c.*1132G>A (n.*1132G>A)
c.*1667G>A (n.*1667G>A)
c.2220G>A (n.2220G>A)
c.1840G>A (p.Glu614Lys)
c.1888G>A (p.Glu630Lys)
c.1984G>A (p.Glu662Lys)
c.1930G>A (p.Glu644Lys)
c.1891G>A (p.Glu631Lys)
18g.33739412G>CCA402177069ASXL3c.2011G>C (p.Glu671Gln)
c.2008G>C (p.Glu670Gln)
c.*1132G>C (n.*1132G>C)
c.*1667G>C (n.*1667G>C)
c.2220G>C (n.2220G>C)
c.1840G>C (p.Glu614Gln)
c.1888G>C (p.Glu630Gln)
c.1984G>C (p.Glu662Gln)
c.1930G>C (p.Glu644Gln)
c.1891G>C (p.Glu631Gln)
18g.33739412G>TCA402177070ASXL3c.2011G>T (p.Glu671Ter)
c.2008G>T (p.Glu670Ter)
c.*1132G>T (n.*1132G>T)
c.*1667G>T (n.*1667G>T)
c.2220G>T (n.2220G>T)
c.1840G>T (p.Glu614Ter)
c.1888G>T (p.Glu630Ter)
c.1984G>T (p.Glu662Ter)
c.1930G>T (p.Glu644Ter)
c.1891G>T (p.Glu631Ter)
18g.33739413A>CCA402177071ASXL3c.2012A>C (p.Glu671Ala)
c.2009A>C (p.Glu670Ala)
c.*1133A>C (n.*1133A>C)
c.*1668A>C (n.*1668A>C)
c.2221A>C (n.2221A>C)
c.1841A>C (p.Glu614Ala)
c.1889A>C (p.Glu630Ala)
c.1985A>C (p.Glu662Ala)
c.1931A>C (p.Glu644Ala)
c.1892A>C (p.Glu631Ala)
18g.33739413A>GCA402177072ASXL3c.2012A>G (p.Glu671Gly)
c.2009A>G (p.Glu670Gly)
c.*1133A>G (n.*1133A>G)
c.*1668A>G (n.*1668A>G)
c.2221A>G (n.2221A>G)
c.1841A>G (p.Glu614Gly)
c.1889A>G (p.Glu630Gly)
c.1985A>G (p.Glu662Gly)
c.1931A>G (p.Glu644Gly)
c.1892A>G (p.Glu631Gly)
18g.33739413A>TCA402177073ASXL3c.2012A>T (p.Glu671Val)
c.2009A>T (p.Glu670Val)
c.*1133A>T (n.*1133A>T)
c.*1668A>T (n.*1668A>T)
c.2221A>T (n.2221A>T)
c.1841A>T (p.Glu614Val)
c.1889A>T (p.Glu630Val)
c.1985A>T (p.Glu662Val)
c.1931A>T (p.Glu644Val)
c.1892A>T (p.Glu631Val)
18g.33739414A>CCA402177074ASXL3c.2013A>C (p.Glu671Asp)
c.2010A>C (p.Glu670Asp)
c.*1134A>C (n.*1134A>C)
c.*1669A>C (n.*1669A>C)
c.2222A>C (n.2222A>C)
c.1842A>C (p.Glu614Asp)
c.1890A>C (p.Glu630Asp)
c.1986A>C (p.Glu662Asp)
c.1932A>C (p.Glu644Asp)
c.1893A>C (p.Glu631Asp)
18g.33739414A>GCA503768770ASXL3c.2013A>G (p.Glu671=)
c.2010A>G (p.Glu670=)
c.*1134A>G (n.*1134A>G)
c.*1669A>G (n.*1669A>G)
c.2222A>G (n.2222A>G)
c.1842A>G (p.Glu614=)
c.1890A>G (p.Glu630=)
c.1986A>G (p.Glu662=)
c.1932A>G (p.Glu644=)
c.1893A>G (p.Glu631=)
18g.33739414A>TCA402177075ASXL3c.2013A>T (p.Glu671Asp)
c.2010A>T (p.Glu670Asp)
c.*1134A>T (n.*1134A>T)
c.*1669A>T (n.*1669A>T)
c.2222A>T (n.2222A>T)
c.1842A>T (p.Glu614Asp)
c.1890A>T (p.Glu630Asp)
c.1986A>T (p.Glu662Asp)
c.1932A>T (p.Glu644Asp)
c.1893A>T (p.Glu631Asp)
18g.33739415A>CCA402177077ASXL3c.2014A>C (p.Asn672His)
c.2011A>C (p.Asn671His)
c.*1135A>C (n.*1135A>C)
c.*1670A>C (n.*1670A>C)
c.2223A>C (n.2223A>C)
c.1843A>C (p.Asn615His)
c.1891A>C (p.Asn631His)
c.1987A>C (p.Asn663His)
c.1933A>C (p.Asn645His)
c.1894A>C (p.Asn632His)
18g.33739415A>GCA402177078ASXL3c.2014A>G (p.Asn672Asp)
c.2011A>G (p.Asn671Asp)
c.*1135A>G (n.*1135A>G)
c.*1670A>G (n.*1670A>G)
c.2223A>G (n.2223A>G)
c.1843A>G (p.Asn615Asp)
c.1891A>G (p.Asn631Asp)
c.1987A>G (p.Asn663Asp)
c.1933A>G (p.Asn645Asp)
c.1894A>G (p.Asn632Asp)
18g.33739415A>TCA402177076ASXL3c.2014A>T (p.Asn672Tyr)
c.2011A>T (p.Asn671Tyr)
c.*1135A>T (n.*1135A>T)
c.*1670A>T (n.*1670A>T)
c.2223A>T (n.2223A>T)
c.1843A>T (p.Asn615Tyr)
c.1891A>T (p.Asn631Tyr)
c.1987A>T (p.Asn663Tyr)
c.1933A>T (p.Asn645Tyr)
c.1894A>T (p.Asn632Tyr)
18g.33739416A>CCA402177079ASXL3c.2015A>C (p.Asn672Thr)
c.2012A>C (p.Asn671Thr)
c.*1136A>C (n.*1136A>C)
c.*1671A>C (n.*1671A>C)
c.2224A>C (n.2224A>C)
c.1844A>C (p.Asn615Thr)
c.1892A>C (p.Asn631Thr)
c.1988A>C (p.Asn663Thr)
c.1934A>C (p.Asn645Thr)
c.1895A>C (p.Asn632Thr)
18g.33739416A>GCA402177080ASXL3c.2015A>G (p.Asn672Ser)
c.2012A>G (p.Asn671Ser)
c.*1136A>G (n.*1136A>G)
c.*1671A>G (n.*1671A>G)
c.2224A>G (n.2224A>G)
c.1844A>G (p.Asn615Ser)
c.1892A>G (p.Asn631Ser)
c.1988A>G (p.Asn663Ser)
c.1934A>G (p.Asn645Ser)
c.1895A>G (p.Asn632Ser)
18g.33739416A>TCA402177081ASXL3c.2015A>T (p.Asn672Ile)
c.2012A>T (p.Asn671Ile)
c.*1136A>T (n.*1136A>T)
c.*1671A>T (n.*1671A>T)
c.2224A>T (n.2224A>T)
c.1844A>T (p.Asn615Ile)
c.1892A>T (p.Asn631Ile)
c.1988A>T (p.Asn663Ile)
c.1934A>T (p.Asn645Ile)
c.1895A>T (p.Asn632Ile)
18g.33739417C>ACA402177082ASXL3c.2016C>A (p.Asn672Lys)
c.2013C>A (p.Asn671Lys)
c.*1137C>A (n.*1137C>A)
c.*1672C>A (n.*1672C>A)
c.2225C>A (n.2225C>A)
c.1845C>A (p.Asn615Lys)
c.1893C>A (p.Asn631Lys)
c.1989C>A (p.Asn663Lys)
c.1935C>A (p.Asn645Lys)
c.1896C>A (p.Asn632Lys)
18g.33739417C=CA2294855965ASXL3c.2016C= (p.Asn672=)
c.2013C= (p.Asn671=)
c.*1137C= (n.*1137C=)
c.*1672C= (n.*1672C=)
c.2225C= (n.2225C=)
c.1845C= (p.Asn615=)
c.1893C= (p.Asn631=)
c.1989C= (p.Asn663=)
c.1935C= (p.Asn645=)
c.1896C= (p.Asn632=)
18g.33739417C>GCA402177083ASXL3c.2016C>G (p.Asn672Lys)
c.2013C>G (p.Asn671Lys)
c.*1137C>G (n.*1137C>G)
c.*1672C>G (n.*1672C>G)
c.2225C>G (n.2225C>G)
c.1845C>G (p.Asn615Lys)
c.1893C>G (p.Asn631Lys)
c.1989C>G (p.Asn663Lys)
c.1935C>G (p.Asn645Lys)
c.1896C>G (p.Asn632Lys)
 gnomAD v4
18g.33739417C>TCA503768775ASXL3c.2016C>T (p.Asn672=)
c.2013C>T (p.Asn671=)
c.*1137C>T (n.*1137C>T)
c.*1672C>T (n.*1672C>T)
c.2225C>T (n.2225C>T)
c.1845C>T (p.Asn615=)
c.1893C>T (p.Asn631=)
c.1989C>T (p.Asn663=)
c.1935C>T (p.Asn645=)
c.1896C>T (p.Asn632=)
 dbSNP gnomAD v2
18g.33739418T>ACA402177084ASXL3c.2017T>A (p.Phe673Ile)
c.2014T>A (p.Phe672Ile)
c.*1138T>A (n.*1138T>A)
c.*1673T>A (n.*1673T>A)
c.2226T>A (n.2226T>A)
c.1846T>A (p.Phe616Ile)
c.1894T>A (p.Phe632Ile)
c.1990T>A (p.Phe664Ile)
c.1936T>A (p.Phe646Ile)
c.1897T>A (p.Phe633Ile)
18g.33739418T>CCA402177085ASXL3c.2017T>C (p.Phe673Leu)
c.2014T>C (p.Phe672Leu)
c.*1138T>C (n.*1138T>C)
c.*1673T>C (n.*1673T>C)
c.2226T>C (n.2226T>C)
c.1846T>C (p.Phe616Leu)
c.1894T>C (p.Phe632Leu)
c.1990T>C (p.Phe664Leu)
c.1936T>C (p.Phe646Leu)
c.1897T>C (p.Phe633Leu)
18g.33739418T>GCA402177086ASXL3c.2017T>G (p.Phe673Val)
c.2014T>G (p.Phe672Val)
c.*1138T>G (n.*1138T>G)
c.*1673T>G (n.*1673T>G)
c.2226T>G (n.2226T>G)
c.1846T>G (p.Phe616Val)
c.1894T>G (p.Phe632Val)
c.1990T>G (p.Phe664Val)
c.1936T>G (p.Phe646Val)
c.1897T>G (p.Phe633Val)
18g.33739419T>ACA402177087ASXL3c.2018T>A (p.Phe673Tyr)
c.2015T>A (p.Phe672Tyr)
c.*1139T>A (n.*1139T>A)
c.*1674T>A (n.*1674T>A)
c.2227T>A (n.2227T>A)
c.1847T>A (p.Phe616Tyr)
c.1895T>A (p.Phe632Tyr)
c.1991T>A (p.Phe664Tyr)
c.1937T>A (p.Phe646Tyr)
c.1898T>A (p.Phe633Tyr)
18g.33739419T>CCA402177088ASXL3c.2018T>C (p.Phe673Ser)
c.2015T>C (p.Phe672Ser)
c.*1139T>C (n.*1139T>C)
c.*1674T>C (n.*1674T>C)
c.2227T>C (n.2227T>C)
c.1847T>C (p.Phe616Ser)
c.1895T>C (p.Phe632Ser)
c.1991T>C (p.Phe664Ser)
c.1937T>C (p.Phe646Ser)
c.1898T>C (p.Phe633Ser)
18g.33739419T>GCA402177089ASXL3c.2018T>G (p.Phe673Cys)
c.2015T>G (p.Phe672Cys)
c.*1139T>G (n.*1139T>G)
c.*1674T>G (n.*1674T>G)
c.2227T>G (n.2227T>G)
c.1847T>G (p.Phe616Cys)
c.1895T>G (p.Phe632Cys)
c.1991T>G (p.Phe664Cys)
c.1937T>G (p.Phe646Cys)
c.1898T>G (p.Phe633Cys)
18g.33739420T>ACA402177090ASXL3c.2019T>A (p.Phe673Leu)
c.2016T>A (p.Phe672Leu)
c.*1140T>A (n.*1140T>A)
c.*1675T>A (n.*1675T>A)
c.2228T>A (n.2228T>A)
c.1848T>A (p.Phe616Leu)
c.1896T>A (p.Phe632Leu)
c.1992T>A (p.Phe664Leu)
c.1938T>A (p.Phe646Leu)
c.1899T>A (p.Phe633Leu)
18g.33739420T>CCA503768776ASXL3c.2019T>C (p.Phe673=)
c.2016T>C (p.Phe672=)
c.*1140T>C (n.*1140T>C)
c.*1675T>C (n.*1675T>C)
c.2228T>C (n.2228T>C)
c.1848T>C (p.Phe616=)
c.1896T>C (p.Phe632=)
c.1992T>C (p.Phe664=)
c.1938T>C (p.Phe646=)
c.1899T>C (p.Phe633=)
 gnomAD v4
18g.33739420T>GCA402177091ASXL3c.2019T>G (p.Phe673Leu)
c.2016T>G (p.Phe672Leu)
c.*1140T>G (n.*1140T>G)
c.*1675T>G (n.*1675T>G)
c.2228T>G (n.2228T>G)
c.1848T>G (p.Phe616Leu)
c.1896T>G (p.Phe632Leu)
c.1992T>G (p.Phe664Leu)
c.1938T>G (p.Phe646Leu)
c.1899T>G (p.Phe633Leu)
18g.33739421C>ACA402177092ASXL3c.2020C>A (p.His674Asn)
c.2017C>A (p.His673Asn)
c.*1141C>A (n.*1141C>A)
c.*1676C>A (n.*1676C>A)
c.2229C>A (n.2229C>A)
c.1849C>A (p.His617Asn)
c.1897C>A (p.His633Asn)
c.1993C>A (p.His665Asn)
c.1939C>A (p.His647Asn)
c.1900C>A (p.His634Asn)
18g.33739421C>GCA402177094ASXL3c.2020C>G (p.His674Asp)
c.2017C>G (p.His673Asp)
c.*1141C>G (n.*1141C>G)
c.*1676C>G (n.*1676C>G)
c.2229C>G (n.2229C>G)
c.1849C>G (p.His617Asp)
c.1897C>G (p.His633Asp)
c.1993C>G (p.His665Asp)
c.1939C>G (p.His647Asp)
c.1900C>G (p.His634Asp)
 gnomAD v4
18g.33739421C>TCA402177093ASXL3c.2020C>T (p.His674Tyr)
c.2017C>T (p.His673Tyr)
c.*1141C>T (n.*1141C>T)
c.*1676C>T (n.*1676C>T)
c.2229C>T (n.2229C>T)
c.1849C>T (p.His617Tyr)
c.1897C>T (p.His633Tyr)
c.1993C>T (p.His665Tyr)
c.1939C>T (p.His647Tyr)
c.1900C>T (p.His634Tyr)
18g.33739422A=CA2294855966ASXL3c.2021A= (p.His674=)
c.2018A= (p.His673=)
c.*1142A= (n.*1142A=)
c.*1677A= (n.*1677A=)
c.2230A= (n.2230A=)
c.1850A= (p.His617=)
c.1898A= (p.His633=)
c.1994A= (p.His665=)
c.1940A= (p.His647=)
c.1901A= (p.His634=)
18g.33739422A>CCA402177095ASXL3c.2021A>C (p.His674Pro)
c.2018A>C (p.His673Pro)
c.*1142A>C (n.*1142A>C)
c.*1677A>C (n.*1677A>C)
c.2230A>C (n.2230A>C)
c.1850A>C (p.His617Pro)
c.1898A>C (p.His633Pro)
c.1994A>C (p.His665Pro)
c.1940A>C (p.His647Pro)
c.1901A>C (p.His634Pro)
18g.33739422A>GCA402177096ASXL3c.2021A>G (p.His674Arg)
c.2018A>G (p.His673Arg)
c.*1142A>G (n.*1142A>G)
c.*1677A>G (n.*1677A>G)
c.2230A>G (n.2230A>G)
c.1850A>G (p.His617Arg)
c.1898A>G (p.His633Arg)
c.1994A>G (p.His665Arg)
c.1940A>G (p.His647Arg)
c.1901A>G (p.His634Arg)
 dbSNP
18g.33739422A>TCA402177097ASXL3c.2021A>T (p.His674Leu)
c.2018A>T (p.His673Leu)
c.*1142A>T (n.*1142A>T)
c.*1677A>T (n.*1677A>T)
c.2230A>T (n.2230A>T)
c.1850A>T (p.His617Leu)
c.1898A>T (p.His633Leu)
c.1994A>T (p.His665Leu)
c.1940A>T (p.His647Leu)
c.1901A>T (p.His634Leu)
18g.33739422_33739423insGGTGAAGCA2294855967ASXL3c.2021_2022insGGTGAAG (p.His674GlnfsTer18)
c.2018_2019insGGTGAAG (p.His673GlnfsTer18)
c.*1142_*1143insGGTGAAG (n.*1142_*1143insGGTGAAG)
c.*1677_*1678insGGTGAAG (n.*1677_*1678insGGTGAAG)
c.2230_2231insGGTGAAG (n.2230_2231insGGTGAAG)
c.1850_1851insGGTGAAG (p.His617GlnfsTer18)
c.1898_1899insGGTGAAG (p.His633GlnfsTer18)
c.1994_1995insGGTGAAG (p.His665GlnfsTer18)
c.1940_1941insGGTGAAG (p.His647GlnfsTer18)
c.1901_1902insGGTGAAG (p.His634GlnfsTer18)
 dbSNP
18g.33739423T>ACA402177098ASXL3c.2022T>A (p.His674Gln)
c.2019T>A (p.His673Gln)
c.*1143T>A (n.*1143T>A)
c.*1678T>A (n.*1678T>A)
c.2231T>A (n.2231T>A)
c.1851T>A (p.His617Gln)
c.1899T>A (p.His633Gln)
c.1995T>A (p.His665Gln)
c.1941T>A (p.His647Gln)
c.1902T>A (p.His634Gln)
18g.33739423T>CCA503768784ASXL3c.2022T>C (p.His674=)
c.2019T>C (p.His673=)
c.*1143T>C (n.*1143T>C)
c.*1678T>C (n.*1678T>C)
c.2231T>C (n.2231T>C)
c.1851T>C (p.His617=)
c.1899T>C (p.His633=)
c.1995T>C (p.His665=)
c.1941T>C (p.His647=)
c.1902T>C (p.His634=)
18g.33739423T>GCA402177099ASXL3c.2022T>G (p.His674Gln)
c.2019T>G (p.His673Gln)
c.*1143T>G (n.*1143T>G)
c.*1678T>G (n.*1678T>G)
c.2231T>G (n.2231T>G)
c.1851T>G (p.His617Gln)
c.1899T>G (p.His633Gln)
c.1995T>G (p.His665Gln)
c.1941T>G (p.His647Gln)
c.1902T>G (p.His634Gln)
18g.33739424G>ACA402177100ASXL3c.2023G>A (p.Ala675Thr)
c.2020G>A (p.Ala674Thr)
c.*1144G>A (n.*1144G>A)
c.*1679G>A (n.*1679G>A)
c.2232G>A (n.2232G>A)
c.1852G>A (p.Ala618Thr)
c.1900G>A (p.Ala634Thr)
c.1996G>A (p.Ala666Thr)
c.1942G>A (p.Ala648Thr)
c.1903G>A (p.Ala635Thr)
 dbSNP gnomAD v4
18g.33739424G>CCA402177101ASXL3c.2023G>C (p.Ala675Pro)
c.2020G>C (p.Ala674Pro)
c.*1144G>C (n.*1144G>C)
c.*1679G>C (n.*1679G>C)
c.2232G>C (n.2232G>C)
c.1852G>C (p.Ala618Pro)
c.1900G>C (p.Ala634Pro)
c.1996G>C (p.Ala666Pro)
c.1942G>C (p.Ala648Pro)
c.1903G>C (p.Ala635Pro)
18g.33739424G=CA2294855968ASXL3c.2023G= (p.Ala675=)
c.2020G= (p.Ala674=)
c.*1144G= (n.*1144G=)
c.*1679G= (n.*1679G=)
c.2232G= (n.2232G=)
c.1852G= (p.Ala618=)
c.1900G= (p.Ala634=)
c.1996G= (p.Ala666=)
c.1942G= (p.Ala648=)
c.1903G= (p.Ala635=)
18g.33739424G>TCA402177102ASXL3c.2023G>T (p.Ala675Ser)
c.2020G>T (p.Ala674Ser)
c.*1144G>T (n.*1144G>T)
c.*1679G>T (n.*1679G>T)
c.2232G>T (n.2232G>T)
c.1852G>T (p.Ala618Ser)
c.1900G>T (p.Ala634Ser)
c.1996G>T (p.Ala666Ser)
c.1942G>T (p.Ala648Ser)
c.1903G>T (p.Ala635Ser)
18g.33739425C>ACA402177103ASXL3c.2024C>A (p.Ala675Glu)
c.2021C>A (p.Ala674Glu)
c.*1145C>A (n.*1145C>A)
c.*1680C>A (n.*1680C>A)
c.2233C>A (n.2233C>A)
c.1853C>A (p.Ala618Glu)
c.1901C>A (p.Ala634Glu)
c.1997C>A (p.Ala666Glu)
c.1943C>A (p.Ala648Glu)
c.1904C>A (p.Ala635Glu)
 gnomAD v3 gnomAD v4
18g.33739425C=CA2294855969ASXL3c.2024C= (p.Ala675=)
c.2021C= (p.Ala674=)
c.*1145C= (n.*1145C=)
c.*1680C= (n.*1680C=)
c.2233C= (n.2233C=)
c.1853C= (p.Ala618=)
c.1901C= (p.Ala634=)
c.1997C= (p.Ala666=)
c.1943C= (p.Ala648=)
c.1904C= (p.Ala635=)
18g.33739425C>GCA402177104ASXL3c.2024C>G (p.Ala675Gly)
c.2021C>G (p.Ala674Gly)
c.*1145C>G (n.*1145C>G)
c.*1680C>G (n.*1680C>G)
c.2233C>G (n.2233C>G)
c.1853C>G (p.Ala618Gly)
c.1901C>G (p.Ala634Gly)
c.1997C>G (p.Ala666Gly)
c.1943C>G (p.Ala648Gly)
c.1904C>G (p.Ala635Gly)
 dbSNP
18g.33739425C>TCA402177105ASXL3c.2024C>T (p.Ala675Val)
c.2021C>T (p.Ala674Val)
c.*1145C>T (n.*1145C>T)
c.*1680C>T (n.*1680C>T)
c.2233C>T (n.2233C>T)
c.1853C>T (p.Ala618Val)
c.1901C>T (p.Ala634Val)
c.1997C>T (p.Ala666Val)
c.1943C>T (p.Ala648Val)
c.1904C>T (p.Ala635Val)
 dbSNP gnomAD v4
18g.33739426A=CA2294855970ASXL3c.2025A= (p.Ala675=)
c.2022A= (p.Ala674=)
c.*1146A= (n.*1146A=)
c.*1681A= (n.*1681A=)
c.2234A= (n.2234A=)
c.1854A= (p.Ala618=)
c.1902A= (p.Ala634=)
c.1998A= (p.Ala666=)
c.1944A= (p.Ala648=)
c.1905A= (p.Ala635=)
18g.33739426A>CCA503768789ASXL3c.2025A>C (p.Ala675=)
c.2022A>C (p.Ala674=)
c.*1146A>C (n.*1146A>C)
c.*1681A>C (n.*1681A>C)
c.2234A>C (n.2234A>C)
c.1854A>C (p.Ala618=)
c.1902A>C (p.Ala634=)
c.1998A>C (p.Ala666=)
c.1944A>C (p.Ala648=)
c.1905A>C (p.Ala635=)
18g.33739426A>GCA8933855ASXL3c.2025A>G (p.Ala675=)
c.2022A>G (p.Ala674=)
c.*1146A>G (n.*1146A>G)
c.*1681A>G (n.*1681A>G)
c.2234A>G (n.2234A>G)
c.1854A>G (p.Ala618=)
c.1902A>G (p.Ala634=)
c.1998A>G (p.Ala666=)
c.1944A>G (p.Ala648=)
c.1905A>G (p.Ala635=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739426A>TCA503768788ASXL3c.2025A>T (p.Ala675=)
c.2022A>T (p.Ala674=)
c.*1146A>T (n.*1146A>T)
c.*1681A>T (n.*1681A>T)
c.2234A>T (n.2234A>T)
c.1854A>T (p.Ala618=)
c.1902A>T (p.Ala634=)
c.1998A>T (p.Ala666=)
c.1944A>T (p.Ala648=)
c.1905A>T (p.Ala635=)
18g.33739427T>ACA402177107ASXL3c.2026T>A (p.Ser676Thr)
c.2023T>A (p.Ser675Thr)
c.*1147T>A (n.*1147T>A)
c.*1682T>A (n.*1682T>A)
c.2235T>A (n.2235T>A)
c.1855T>A (p.Ser619Thr)
c.1903T>A (p.Ser635Thr)
c.1999T>A (p.Ser667Thr)
c.1945T>A (p.Ser649Thr)
c.1906T>A (p.Ser636Thr)
18g.33739427T>CCA402177106ASXL3c.2026T>C (p.Ser676Pro)
c.2023T>C (p.Ser675Pro)
c.*1147T>C (n.*1147T>C)
c.*1682T>C (n.*1682T>C)
c.2235T>C (n.2235T>C)
c.1855T>C (p.Ser619Pro)
c.1903T>C (p.Ser635Pro)
c.1999T>C (p.Ser667Pro)
c.1945T>C (p.Ser649Pro)
c.1906T>C (p.Ser636Pro)
18g.33739427T>GCA402177108ASXL3c.2026T>G (p.Ser676Ala)
c.2023T>G (p.Ser675Ala)
c.*1147T>G (n.*1147T>G)
c.*1682T>G (n.*1682T>G)
c.2235T>G (n.2235T>G)
c.1855T>G (p.Ser619Ala)
c.1903T>G (p.Ser635Ala)
c.1999T>G (p.Ser667Ala)
c.1945T>G (p.Ser649Ala)
c.1906T>G (p.Ser636Ala)
 gnomAD v4
18g.33739428C>ACA8933856ASXL3c.2027C>A (p.Ser676Tyr)
c.2024C>A (p.Ser675Tyr)
c.*1148C>A (n.*1148C>A)
c.*1683C>A (n.*1683C>A)
c.2236C>A (n.2236C>A)
c.1856C>A (p.Ser619Tyr)
c.1904C>A (p.Ser635Tyr)
c.2000C>A (p.Ser667Tyr)
c.1946C>A (p.Ser649Tyr)
c.1907C>A (p.Ser636Tyr)
 dbSNP ExAC gnomAD v2
18g.33739428C=CA2294855971ASXL3c.2027C= (p.Ser676=)
c.2024C= (p.Ser675=)
c.*1148C= (n.*1148C=)
c.*1683C= (n.*1683C=)
c.2236C= (n.2236C=)
c.1856C= (p.Ser619=)
c.1904C= (p.Ser635=)
c.2000C= (p.Ser667=)
c.1946C= (p.Ser649=)
c.1907C= (p.Ser636=)
18g.33739428C>GCA402177109ASXL3c.2027C>G (p.Ser676Cys)
c.2024C>G (p.Ser675Cys)
c.*1148C>G (n.*1148C>G)
c.*1683C>G (n.*1683C>G)
c.2236C>G (n.2236C>G)
c.1856C>G (p.Ser619Cys)
c.1904C>G (p.Ser635Cys)
c.2000C>G (p.Ser667Cys)
c.1946C>G (p.Ser649Cys)
c.1907C>G (p.Ser636Cys)
18g.33739428C>TCA402177110ASXL3c.2027C>T (p.Ser676Phe)
c.2024C>T (p.Ser675Phe)
c.*1148C>T (n.*1148C>T)
c.*1683C>T (n.*1683C>T)
c.2236C>T (n.2236C>T)
c.1856C>T (p.Ser619Phe)
c.1904C>T (p.Ser635Phe)
c.2000C>T (p.Ser667Phe)
c.1946C>T (p.Ser649Phe)
c.1907C>T (p.Ser636Phe)
18g.33739429T>ACA503768792ASXL3c.2028T>A (p.Ser676=)
c.2025T>A (p.Ser675=)
c.*1149T>A (n.*1149T>A)
c.*1684T>A (n.*1684T>A)
c.2237T>A (n.2237T>A)
c.1857T>A (p.Ser619=)
c.1905T>A (p.Ser635=)
c.2001T>A (p.Ser667=)
c.1947T>A (p.Ser649=)
c.1908T>A (p.Ser636=)
18g.33739429T>CCA8933857ASXL3c.2028T>C (p.Ser676=)
c.2025T>C (p.Ser675=)
c.*1149T>C (n.*1149T>C)
c.*1684T>C (n.*1684T>C)
c.2237T>C (n.2237T>C)
c.1857T>C (p.Ser619=)
c.1905T>C (p.Ser635=)
c.2001T>C (p.Ser667=)
c.1947T>C (p.Ser649=)
c.1908T>C (p.Ser636=)
 dbSNP ExAC gnomAD v3 gnomAD v4
18g.33739429T>GCA503768798ASXL3c.2028T>G (p.Ser676=)
c.2025T>G (p.Ser675=)
c.*1149T>G (n.*1149T>G)
c.*1684T>G (n.*1684T>G)
c.2237T>G (n.2237T>G)
c.1857T>G (p.Ser619=)
c.1905T>G (p.Ser635=)
c.2001T>G (p.Ser667=)
c.1947T>G (p.Ser649=)
c.1908T>G (p.Ser636=)
18g.33739429T=CA2294855972ASXL3c.2028T= (p.Ser676=)
c.2025T= (p.Ser675=)
c.*1149T= (n.*1149T=)
c.*1684T= (n.*1684T=)
c.2237T= (n.2237T=)
c.1857T= (p.Ser619=)
c.1905T= (p.Ser635=)
c.2001T= (p.Ser667=)
c.1947T= (p.Ser649=)
c.1908T= (p.Ser636=)
18g.33739430T>ACA402177116ASXL3c.2029T>A (p.Leu677Met)
c.2026T>A (p.Leu676Met)
c.*1150T>A (n.*1150T>A)
c.*1685T>A (n.*1685T>A)
c.2238T>A (n.2238T>A)
c.1858T>A (p.Leu620Met)
c.1906T>A (p.Leu636Met)
c.2002T>A (p.Leu668Met)
c.1948T>A (p.Leu650Met)
c.1909T>A (p.Leu637Met)
18g.33739430T>CCA503768800ASXL3c.2029T>C (p.Leu677=)
c.2026T>C (p.Leu676=)
c.*1150T>C (n.*1150T>C)
c.*1685T>C (n.*1685T>C)
c.2238T>C (n.2238T>C)
c.1858T>C (p.Leu620=)
c.1906T>C (p.Leu636=)
c.2002T>C (p.Leu668=)
c.1948T>C (p.Leu650=)
c.1909T>C (p.Leu637=)
 gnomAD v4
18g.33739430T>GCA402177118ASXL3c.2029T>G (p.Leu677Val)
c.2026T>G (p.Leu676Val)
c.*1150T>G (n.*1150T>G)
c.*1685T>G (n.*1685T>G)
c.2238T>G (n.2238T>G)
c.1858T>G (p.Leu620Val)
c.1906T>G (p.Leu636Val)
c.2002T>G (p.Leu668Val)
c.1948T>G (p.Leu650Val)
c.1909T>G (p.Leu637Val)
18g.33739431T>ACA402177122ASXL3c.2030T>A (p.Leu677Ter)
c.2027T>A (p.Leu676Ter)
c.*1151T>A (n.*1151T>A)
c.*1686T>A (n.*1686T>A)
c.2239T>A (n.2239T>A)
c.1859T>A (p.Leu620Ter)
c.1907T>A (p.Leu636Ter)
c.2003T>A (p.Leu668Ter)
c.1949T>A (p.Leu650Ter)
c.1910T>A (p.Leu637Ter)
18g.33739431T>CCA402177123ASXL3c.2030T>C (p.Leu677Ser)
c.2027T>C (p.Leu676Ser)
c.*1151T>C (n.*1151T>C)
c.*1686T>C (n.*1686T>C)
c.2239T>C (n.2239T>C)
c.1859T>C (p.Leu620Ser)
c.1907T>C (p.Leu636Ser)
c.2003T>C (p.Leu668Ser)
c.1949T>C (p.Leu650Ser)
c.1910T>C (p.Leu637Ser)
18g.33739431T>GCA402177127ASXL3c.2030T>G (p.Leu677Trp)
c.2027T>G (p.Leu676Trp)
c.*1151T>G (n.*1151T>G)
c.*1686T>G (n.*1686T>G)
c.2239T>G (n.2239T>G)
c.1859T>G (p.Leu620Trp)
c.1907T>G (p.Leu636Trp)
c.2003T>G (p.Leu668Trp)
c.1949T>G (p.Leu650Trp)
c.1910T>G (p.Leu637Trp)
 dbSNP
18g.33739431T=CA2294855973ASXL3c.2030T= (p.Leu677=)
c.2027T= (p.Leu676=)
c.*1151T= (n.*1151T=)
c.*1686T= (n.*1686T=)
c.2239T= (n.2239T=)
c.1859T= (p.Leu620=)
c.1907T= (p.Leu636=)
c.2003T= (p.Leu668=)
c.1949T= (p.Leu650=)
c.1910T= (p.Leu637=)
18g.33739432G>ACA503768802ASXL3c.2031G>A (p.Leu677=)
c.2028G>A (p.Leu676=)
c.*1152G>A (n.*1152G>A)
c.*1687G>A (n.*1687G>A)
c.2240G>A (n.2240G>A)
c.1860G>A (p.Leu620=)
c.1908G>A (p.Leu636=)
c.2004G>A (p.Leu668=)
c.1950G>A (p.Leu650=)
c.1911G>A (p.Leu637=)
 COSMIC COSMIC
18g.33739432G>CCA402177130ASXL3c.2031G>C (p.Leu677Phe)
c.2028G>C (p.Leu676Phe)
c.*1152G>C (n.*1152G>C)
c.*1687G>C (n.*1687G>C)
c.2240G>C (n.2240G>C)
c.1860G>C (p.Leu620Phe)
c.1908G>C (p.Leu636Phe)
c.2004G>C (p.Leu668Phe)
c.1950G>C (p.Leu650Phe)
c.1911G>C (p.Leu637Phe)
 gnomAD v4
18g.33739432G>TCA402177133ASXL3c.2031G>T (p.Leu677Phe)
c.2028G>T (p.Leu676Phe)
c.*1152G>T (n.*1152G>T)
c.*1687G>T (n.*1687G>T)
c.2240G>T (n.2240G>T)
c.1860G>T (p.Leu620Phe)
c.1908G>T (p.Leu636Phe)
c.2004G>T (p.Leu668Phe)
c.1950G>T (p.Leu650Phe)
c.1911G>T (p.Leu637Phe)
18g.33739432_33739437delinsGATGTCCA2294855974ASXL3c.2031_2036delinsGATGTC (p.Leu677=)
c.2028_2033delinsGATGTC (p.Leu676=)
c.*1152_*1157delinsGATGTC (n.*1152_*1157delinsGATGTC)
c.*1687_*1692delinsGATGTC (n.*1687_*1692delinsGATGTC)
c.2240_2245delinsGATGTC (n.2240_2245delinsGATGTC)
c.1860_1865delinsGATGTC (p.Leu620=)
c.1908_1913delinsGATGTC (p.Leu636=)
c.2004_2009delinsGATGTC (p.Leu668=)
c.1950_1955delinsGATGTC (p.Leu650=)
c.1911_1916delinsGATGTC (p.Leu637=)
18g.33739433A>CCA402177140ASXL3c.2032A>C (p.Met678Leu)
c.2029A>C (p.Met677Leu)
c.*1153A>C (n.*1153A>C)
c.*1688A>C (n.*1688A>C)
c.2241A>C (n.2241A>C)
c.1861A>C (p.Met621Leu)
c.1909A>C (p.Met637Leu)
c.2005A>C (p.Met669Leu)
c.1951A>C (p.Met651Leu)
c.1912A>C (p.Met638Leu)
18g.33739433A>GCA402177138ASXL3c.2032A>G (p.Met678Val)
c.2029A>G (p.Met677Val)
c.*1153A>G (n.*1153A>G)
c.*1688A>G (n.*1688A>G)
c.2241A>G (n.2241A>G)
c.1861A>G (p.Met621Val)
c.1909A>G (p.Met637Val)
c.2005A>G (p.Met669Val)
c.1951A>G (p.Met651Val)
c.1912A>G (p.Met638Val)
18g.33739433A>TCA402177136ASXL3c.2032A>T (p.Met678Leu)
c.2029A>T (p.Met677Leu)
c.*1153A>T (n.*1153A>T)
c.*1688A>T (n.*1688A>T)
c.2241A>T (n.2241A>T)
c.1861A>T (p.Met621Leu)
c.1909A>T (p.Met637Leu)
c.2005A>T (p.Met669Leu)
c.1951A>T (p.Met651Leu)
c.1912A>T (p.Met638Leu)
18g.33739434_33739438delCA2294855975ASXL3c.2033_2037del (p.Met678ArgfsTer10)
c.2030_2034del (p.Met677ArgfsTer10)
c.*1154_*1158del (n.*1154_*1158del)
c.*1689_*1693del (n.*1689_*1693del)
c.2242_2246del (n.2242_2246del)
c.1862_1866del (p.Met621ArgfsTer10)
c.1910_1914del (p.Met637ArgfsTer10)
c.2006_2010del (p.Met669ArgfsTer10)
c.1952_1956del (p.Met651ArgfsTer10)
c.1913_1917del (p.Met638ArgfsTer10)
 dbSNP
18g.33739434T>ACA402177143ASXL3c.2033T>A (p.Met678Lys)
c.2030T>A (p.Met677Lys)
c.*1154T>A (n.*1154T>A)
c.*1689T>A (n.*1689T>A)
c.2242T>A (n.2242T>A)
c.1862T>A (p.Met621Lys)
c.1910T>A (p.Met637Lys)
c.2006T>A (p.Met669Lys)
c.1952T>A (p.Met651Lys)
c.1913T>A (p.Met638Lys)
18g.33739434T>CCA402177146ASXL3c.2033T>C (p.Met678Thr)
c.2030T>C (p.Met677Thr)
c.*1154T>C (n.*1154T>C)
c.*1689T>C (n.*1689T>C)
c.2242T>C (n.2242T>C)
c.1862T>C (p.Met621Thr)
c.1910T>C (p.Met637Thr)
c.2006T>C (p.Met669Thr)
c.1952T>C (p.Met651Thr)
c.1913T>C (p.Met638Thr)
 gnomAD v4
18g.33739434T>GCA402177148ASXL3c.2033T>G (p.Met678Arg)
c.2030T>G (p.Met677Arg)
c.*1154T>G (n.*1154T>G)
c.*1689T>G (n.*1689T>G)
c.2242T>G (n.2242T>G)
c.1862T>G (p.Met621Arg)
c.1910T>G (p.Met637Arg)
c.2006T>G (p.Met669Arg)
c.1952T>G (p.Met651Arg)
c.1913T>G (p.Met638Arg)
18g.33739435G>ACA402177151ASXL3c.2034G>A (p.Met678Ile)
c.2031G>A (p.Met677Ile)
c.*1155G>A (n.*1155G>A)
c.*1690G>A (n.*1690G>A)
c.2243G>A (n.2243G>A)
c.1863G>A (p.Met621Ile)
c.1911G>A (p.Met637Ile)
c.2007G>A (p.Met669Ile)
c.1953G>A (p.Met651Ile)
c.1914G>A (p.Met638Ile)
 gnomAD v4
18g.33739435G>CCA402177154ASXL3c.2034G>C (p.Met678Ile)
c.2031G>C (p.Met677Ile)
c.*1155G>C (n.*1155G>C)
c.*1690G>C (n.*1690G>C)
c.2243G>C (n.2243G>C)
c.1863G>C (p.Met621Ile)
c.1911G>C (p.Met637Ile)
c.2007G>C (p.Met669Ile)
c.1953G>C (p.Met651Ile)
c.1914G>C (p.Met638Ile)
18g.33739435G>TCA402177156ASXL3c.2034G>T (p.Met678Ile)
c.2031G>T (p.Met677Ile)
c.*1155G>T (n.*1155G>T)
c.*1690G>T (n.*1690G>T)
c.2243G>T (n.2243G>T)
c.1863G>T (p.Met621Ile)
c.1911G>T (p.Met637Ile)
c.2007G>T (p.Met669Ile)
c.1953G>T (p.Met651Ile)
c.1914G>T (p.Met638Ile)
18g.33739436T>ACA402177159ASXL3c.2035T>A (p.Ser679Thr)
c.2032T>A (p.Ser678Thr)
c.*1156T>A (n.*1156T>A)
c.*1691T>A (n.*1691T>A)
c.2244T>A (n.2244T>A)
c.1864T>A (p.Ser622Thr)
c.1912T>A (p.Ser638Thr)
c.2008T>A (p.Ser670Thr)
c.1954T>A (p.Ser652Thr)
c.1915T>A (p.Ser639Thr)
18g.33739436T>CCA402177161ASXL3c.2035T>C (p.Ser679Pro)
c.2032T>C (p.Ser678Pro)
c.*1156T>C (n.*1156T>C)
c.*1691T>C (n.*1691T>C)
c.2244T>C (n.2244T>C)
c.1864T>C (p.Ser622Pro)
c.1912T>C (p.Ser638Pro)
c.2008T>C (p.Ser670Pro)
c.1954T>C (p.Ser652Pro)
c.1915T>C (p.Ser639Pro)
 dbSNP
18g.33739436T>GCA402177164ASXL3c.2035T>G (p.Ser679Ala)
c.2032T>G (p.Ser678Ala)
c.*1156T>G (n.*1156T>G)
c.*1691T>G (n.*1691T>G)
c.2244T>G (n.2244T>G)
c.1864T>G (p.Ser622Ala)
c.1912T>G (p.Ser638Ala)
c.2008T>G (p.Ser670Ala)
c.1954T>G (p.Ser652Ala)
c.1915T>G (p.Ser639Ala)
18g.33739436T=CA2294855976ASXL3c.2035T= (p.Ser679=)
c.2032T= (p.Ser678=)
c.*1156T= (n.*1156T=)
c.*1691T= (n.*1691T=)
c.2244T= (n.2244T=)
c.1864T= (p.Ser622=)
c.1912T= (p.Ser638=)
c.2008T= (p.Ser670=)
c.1954T= (p.Ser652=)
c.1915T= (p.Ser639=)
18g.33739437C>ACA402177168ASXL3c.2036C>A (p.Ser679Ter)
c.2033C>A (p.Ser678Ter)
c.*1157C>A (n.*1157C>A)
c.*1692C>A (n.*1692C>A)
c.2245C>A (n.2245C>A)
c.1865C>A (p.Ser622Ter)
c.1913C>A (p.Ser638Ter)
c.2009C>A (p.Ser670Ter)
c.1955C>A (p.Ser652Ter)
c.1916C>A (p.Ser639Ter)
18g.33739437C>GCA402177170ASXL3c.2036C>G (p.Ser679Ter)
c.2033C>G (p.Ser678Ter)
c.*1157C>G (n.*1157C>G)
c.*1692C>G (n.*1692C>G)
c.2245C>G (n.2245C>G)
c.1865C>G (p.Ser622Ter)
c.1913C>G (p.Ser638Ter)
c.2009C>G (p.Ser670Ter)
c.1955C>G (p.Ser652Ter)
c.1916C>G (p.Ser639Ter)
18g.33739437C>TCA402177171ASXL3c.2036C>T (p.Ser679Leu)
c.2033C>T (p.Ser678Leu)
c.*1157C>T (n.*1157C>T)
c.*1692C>T (n.*1692C>T)
c.2245C>T (n.2245C>T)
c.1865C>T (p.Ser622Leu)
c.1913C>T (p.Ser638Leu)
c.2009C>T (p.Ser670Leu)
c.1955C>T (p.Ser652Leu)
c.1916C>T (p.Ser639Leu)
 gnomAD v4
18g.33739438A>CCA503768809ASXL3c.2037A>C (p.Ser679=)
c.2034A>C (p.Ser678=)
c.*1158A>C (n.*1158A>C)
c.*1693A>C (n.*1693A>C)
c.2246A>C (n.2246A>C)
c.1866A>C (p.Ser622=)
c.1914A>C (p.Ser638=)
c.2010A>C (p.Ser670=)
c.1956A>C (p.Ser652=)
c.1917A>C (p.Ser639=)
18g.33739438A>GCA503768810ASXL3c.2037A>G (p.Ser679=)
c.2034A>G (p.Ser678=)
c.*1158A>G (n.*1158A>G)
c.*1693A>G (n.*1693A>G)
c.2246A>G (n.2246A>G)
c.1866A>G (p.Ser622=)
c.1914A>G (p.Ser638=)
c.2010A>G (p.Ser670=)
c.1956A>G (p.Ser652=)
c.1917A>G (p.Ser639=)
18g.33739438A>TCA503768813ASXL3c.2037A>T (p.Ser679=)
c.2034A>T (p.Ser678=)
c.*1158A>T (n.*1158A>T)
c.*1693A>T (n.*1693A>T)
c.2246A>T (n.2246A>T)
c.1866A>T (p.Ser622=)
c.1914A>T (p.Ser638=)
c.2010A>T (p.Ser670=)
c.1956A>T (p.Ser652=)
c.1917A>T (p.Ser639=)
18g.33739439G>ACA402177176ASXL3c.2038G>A (p.Glu680Lys)
c.2035G>A (p.Glu679Lys)
c.*1159G>A (n.*1159G>A)
c.*1694G>A (n.*1694G>A)
c.2247G>A (n.2247G>A)
c.1867G>A (p.Glu623Lys)
c.1915G>A (p.Glu639Lys)
c.2011G>A (p.Glu671Lys)
c.1957G>A (p.Glu653Lys)
c.1918G>A (p.Glu640Lys)
18g.33739439G>CCA8933858ASXL3c.2038G>C (p.Glu680Gln)
c.2035G>C (p.Glu679Gln)
c.*1159G>C (n.*1159G>C)
c.*1694G>C (n.*1694G>C)
c.2247G>C (n.2247G>C)
c.1867G>C (p.Glu623Gln)
c.1915G>C (p.Glu639Gln)
c.2011G>C (p.Glu671Gln)
c.1957G>C (p.Glu653Gln)
c.1918G>C (p.Glu640Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739439G=CA2294855977ASXL3c.2038G= (p.Glu680=)
c.2035G= (p.Glu679=)
c.*1159G= (n.*1159G=)
c.*1694G= (n.*1694G=)
c.2247G= (n.2247G=)
c.1867G= (p.Glu623=)
c.1915G= (p.Glu639=)
c.2011G= (p.Glu671=)
c.1957G= (p.Glu653=)
c.1918G= (p.Glu640=)
18g.33739439G>TCA402177174ASXL3c.2038G>T (p.Glu680Ter)
c.2035G>T (p.Glu679Ter)
c.*1159G>T (n.*1159G>T)
c.*1694G>T (n.*1694G>T)
c.2247G>T (n.2247G>T)
c.1867G>T (p.Glu623Ter)
c.1915G>T (p.Glu639Ter)
c.2011G>T (p.Glu671Ter)
c.1957G>T (p.Glu653Ter)
c.1918G>T (p.Glu640Ter)
18g.33739440A>CCA402177181ASXL3c.2039A>C (p.Glu680Ala)
c.2036A>C (p.Glu679Ala)
c.*1160A>C (n.*1160A>C)
c.*1695A>C (n.*1695A>C)
c.2248A>C (n.2248A>C)
c.1868A>C (p.Glu623Ala)
c.1916A>C (p.Glu639Ala)
c.2012A>C (p.Glu671Ala)
c.1958A>C (p.Glu653Ala)
c.1919A>C (p.Glu640Ala)
18g.33739440A>GCA402177183ASXL3c.2039A>G (p.Glu680Gly)
c.2036A>G (p.Glu679Gly)
c.*1160A>G (n.*1160A>G)
c.*1695A>G (n.*1695A>G)
c.2248A>G (n.2248A>G)
c.1868A>G (p.Glu623Gly)
c.1916A>G (p.Glu639Gly)
c.2012A>G (p.Glu671Gly)
c.1958A>G (p.Glu653Gly)
c.1919A>G (p.Glu640Gly)
18g.33739440A>TCA402177185ASXL3c.2039A>T (p.Glu680Val)
c.2036A>T (p.Glu679Val)
c.*1160A>T (n.*1160A>T)
c.*1695A>T (n.*1695A>T)
c.2248A>T (n.2248A>T)
c.1868A>T (p.Glu623Val)
c.1916A>T (p.Glu639Val)
c.2012A>T (p.Glu671Val)
c.1958A>T (p.Glu653Val)
c.1919A>T (p.Glu640Val)
18g.33739440_33739449delinsAAATATCTCCCA2294855978ASXL3c.2039_2048delinsAAATATCTCC (p.Glu680=)
c.2036_2045delinsAAATATCTCC (p.Glu679=)
c.*1160_*1169delinsAAATATCTCC (n.*1160_*1169delinsAAATATCTCC)
c.*1695_*1704delinsAAATATCTCC (n.*1695_*1704delinsAAATATCTCC)
c.2248_2257delinsAAATATCTCC (n.2248_2257delinsAAATATCTCC)
c.1868_1877delinsAAATATCTCC (p.Glu623=)
c.1916_1925delinsAAATATCTCC (p.Glu639=)
c.2012_2021delinsAAATATCTCC (p.Glu671=)
c.1958_1967delinsAAATATCTCC (p.Glu653=)
c.1919_1928delinsAAATATCTCC (p.Glu640=)
18g.33739441A=CA2294855979ASXL3c.2040A= (p.Glu680=)
c.2037A= (p.Glu679=)
c.*1161A= (n.*1161A=)
c.*1696A= (n.*1696A=)
c.2249A= (n.2249A=)
c.1869A= (p.Glu623=)
c.1917A= (p.Glu639=)
c.2013A= (p.Glu671=)
c.1959A= (p.Glu653=)
c.1920A= (p.Glu640=)
18g.33739441A>CCA402177188ASXL3c.2040A>C (p.Glu680Asp)
c.2037A>C (p.Glu679Asp)
c.*1161A>C (n.*1161A>C)
c.*1696A>C (n.*1696A>C)
c.2249A>C (n.2249A>C)
c.1869A>C (p.Glu623Asp)
c.1917A>C (p.Glu639Asp)
c.2013A>C (p.Glu671Asp)
c.1959A>C (p.Glu653Asp)
c.1920A>C (p.Glu640Asp)
 COSMIC COSMIC
18g.33739441A>GCA503768816ASXL3c.2040A>G (p.Glu680=)
c.2037A>G (p.Glu679=)
c.*1161A>G (n.*1161A>G)
c.*1696A>G (n.*1696A>G)
c.2249A>G (n.2249A>G)
c.1869A>G (p.Glu623=)
c.1917A>G (p.Glu639=)
c.2013A>G (p.Glu671=)
c.1959A>G (p.Glu653=)
c.1920A>G (p.Glu640=)
18g.33739441A>TCA402177190ASXL3c.2040A>T (p.Glu680Asp)
c.2037A>T (p.Glu679Asp)
c.*1161A>T (n.*1161A>T)
c.*1696A>T (n.*1696A>T)
c.2249A>T (n.2249A>T)
c.1869A>T (p.Glu623Asp)
c.1917A>T (p.Glu639Asp)
c.2013A>T (p.Glu671Asp)
c.1959A>T (p.Glu653Asp)
c.1920A>T (p.Glu640Asp)
 dbSNP
18g.33739447_33739455delCA8933859ASXL3c.2046_2054del (p.Pro683_Ser685del)
c.2043_2051del (p.Pro682_Ser684del)
c.*1167_*1175del (n.*1167_*1175del)
c.*1702_*1710del (n.*1702_*1710del)
c.2255_2263del (n.2255_2263del)
c.1875_1883del (p.Pro626_Ser628del)
c.1923_1931del (p.Pro642_Ser644del)
c.2019_2027del (p.Pro674_Ser676del)
c.1965_1973del (p.Pro656_Ser658del)
c.1926_1934del (p.Pro643_Ser645del)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739442A>CCA402177195ASXL3c.2041A>C (p.Ile681Leu)
c.2038A>C (p.Ile680Leu)
c.*1162A>C (n.*1162A>C)
c.*1697A>C (n.*1697A>C)
c.2250A>C (n.2250A>C)
c.1870A>C (p.Ile624Leu)
c.1918A>C (p.Ile640Leu)
c.2014A>C (p.Ile672Leu)
c.1960A>C (p.Ile654Leu)
c.1921A>C (p.Ile641Leu)
18g.33739442A>GCA402177198ASXL3c.2041A>G (p.Ile681Val)
c.2038A>G (p.Ile680Val)
c.*1162A>G (n.*1162A>G)
c.*1697A>G (n.*1697A>G)
c.2250A>G (n.2250A>G)
c.1870A>G (p.Ile624Val)
c.1918A>G (p.Ile640Val)
c.2014A>G (p.Ile672Val)
c.1960A>G (p.Ile654Val)
c.1921A>G (p.Ile641Val)
 gnomAD v4
18g.33739442A>TCA402177201ASXL3c.2041A>T (p.Ile681Leu)
c.2038A>T (p.Ile680Leu)
c.*1162A>T (n.*1162A>T)
c.*1697A>T (n.*1697A>T)
c.2250A>T (n.2250A>T)
c.1870A>T (p.Ile624Leu)
c.1918A>T (p.Ile640Leu)
c.2014A>T (p.Ile672Leu)
c.1960A>T (p.Ile654Leu)
c.1921A>T (p.Ile641Leu)
18g.33739443T>ACA402177204ASXL3c.2042T>A (p.Ile681Lys)
c.2039T>A (p.Ile680Lys)
c.*1163T>A (n.*1163T>A)
c.*1698T>A (n.*1698T>A)
c.2251T>A (n.2251T>A)
c.1871T>A (p.Ile624Lys)
c.1919T>A (p.Ile640Lys)
c.2015T>A (p.Ile672Lys)
c.1961T>A (p.Ile654Lys)
c.1922T>A (p.Ile641Lys)
18g.33739443T>CCA402177205ASXL3c.2042T>C (p.Ile681Thr)
c.2039T>C (p.Ile680Thr)
c.*1163T>C (n.*1163T>C)
c.*1698T>C (n.*1698T>C)
c.2251T>C (n.2251T>C)
c.1871T>C (p.Ile624Thr)
c.1919T>C (p.Ile640Thr)
c.2015T>C (p.Ile672Thr)
c.1961T>C (p.Ile654Thr)
c.1922T>C (p.Ile641Thr)
18g.33739443T>GCA402177208ASXL3c.2042T>G (p.Ile681Arg)
c.2039T>G (p.Ile680Arg)
c.*1163T>G (n.*1163T>G)
c.*1698T>G (n.*1698T>G)
c.2251T>G (n.2251T>G)
c.1871T>G (p.Ile624Arg)
c.1919T>G (p.Ile640Arg)
c.2015T>G (p.Ile672Arg)
c.1961T>G (p.Ile654Arg)
c.1922T>G (p.Ile641Arg)
18g.33739444A=CA2294855980ASXL3c.2043A= (p.Ile681=)
c.2040A= (p.Ile680=)
c.*1164A= (n.*1164A=)
c.*1699A= (n.*1699A=)
c.2252A= (n.2252A=)
c.1872A= (p.Ile624=)
c.1920A= (p.Ile640=)
c.2016A= (p.Ile672=)
c.1962A= (p.Ile654=)
c.1923A= (p.Ile641=)
18g.33739444A>CCA503768820ASXL3c.2043A>C (p.Ile681=)
c.2040A>C (p.Ile680=)
c.*1164A>C (n.*1164A>C)
c.*1699A>C (n.*1699A>C)
c.2252A>C (n.2252A>C)
c.1872A>C (p.Ile624=)
c.1920A>C (p.Ile640=)
c.2016A>C (p.Ile672=)
c.1962A>C (p.Ile654=)
c.1923A>C (p.Ile641=)
18g.33739444A>GCA402177210ASXL3c.2043A>G (p.Ile681Met)
c.2040A>G (p.Ile680Met)
c.*1164A>G (n.*1164A>G)
c.*1699A>G (n.*1699A>G)
c.2252A>G (n.2252A>G)
c.1872A>G (p.Ile624Met)
c.1920A>G (p.Ile640Met)
c.2016A>G (p.Ile672Met)
c.1962A>G (p.Ile654Met)
c.1923A>G (p.Ile641Met)
 gnomAD v4
18g.33739444A>TCA503768825ASXL3c.2043A>T (p.Ile681=)
c.2040A>T (p.Ile680=)
c.*1164A>T (n.*1164A>T)
c.*1699A>T (n.*1699A>T)
c.2252A>T (n.2252A>T)
c.1872A>T (p.Ile624=)
c.1920A>T (p.Ile640=)
c.2016A>T (p.Ile672=)
c.1962A>T (p.Ile654=)
c.1923A>T (p.Ile641=)
 dbSNP
18g.33739445T>ACA402177218ASXL3c.2044T>A (p.Ser682Thr)
c.2041T>A (p.Ser681Thr)
c.*1165T>A (n.*1165T>A)
c.*1700T>A (n.*1700T>A)
c.2253T>A (n.2253T>A)
c.1873T>A (p.Ser625Thr)
c.1921T>A (p.Ser641Thr)
c.2017T>A (p.Ser673Thr)
c.1963T>A (p.Ser655Thr)
c.1924T>A (p.Ser642Thr)
18g.33739445T>CCA8933860ASXL3c.2044T>C (p.Ser682Pro)
c.2041T>C (p.Ser681Pro)
c.*1165T>C (n.*1165T>C)
c.*1700T>C (n.*1700T>C)
c.2253T>C (n.2253T>C)
c.1873T>C (p.Ser625Pro)
c.1921T>C (p.Ser641Pro)
c.2017T>C (p.Ser673Pro)
c.1963T>C (p.Ser655Pro)
c.1924T>C (p.Ser642Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739445T>GCA402177214ASXL3c.2044T>G (p.Ser682Ala)
c.2041T>G (p.Ser681Ala)
c.*1165T>G (n.*1165T>G)
c.*1700T>G (n.*1700T>G)
c.2253T>G (n.2253T>G)
c.1873T>G (p.Ser625Ala)
c.1921T>G (p.Ser641Ala)
c.2017T>G (p.Ser673Ala)
c.1963T>G (p.Ser655Ala)
c.1924T>G (p.Ser642Ala)
 gnomAD v4
18g.33739445T=CA2294855981ASXL3c.2044T= (p.Ser682=)
c.2041T= (p.Ser681=)
c.*1165T= (n.*1165T=)
c.*1700T= (n.*1700T=)
c.2253T= (n.2253T=)
c.1873T= (p.Ser625=)
c.1921T= (p.Ser641=)
c.2017T= (p.Ser673=)
c.1963T= (p.Ser655=)
c.1924T= (p.Ser642=)
18g.33739446C>ACA402177221ASXL3c.2045C>A (p.Ser682Tyr)
c.2042C>A (p.Ser681Tyr)
c.*1166C>A (n.*1166C>A)
c.*1701C>A (n.*1701C>A)
c.2254C>A (n.2254C>A)
c.1874C>A (p.Ser625Tyr)
c.1922C>A (p.Ser641Tyr)
c.2018C>A (p.Ser673Tyr)
c.1964C>A (p.Ser655Tyr)
c.1925C>A (p.Ser642Tyr)
18g.33739446C=CA2294855982ASXL3c.2045C= (p.Ser682=)
c.2042C= (p.Ser681=)
c.*1166C= (n.*1166C=)
c.*1701C= (n.*1701C=)
c.2254C= (n.2254C=)
c.1874C= (p.Ser625=)
c.1922C= (p.Ser641=)
c.2018C= (p.Ser673=)
c.1964C= (p.Ser655=)
c.1925C= (p.Ser642=)
18g.33739446C>GCA402177222ASXL3c.2045C>G (p.Ser682Cys)
c.2042C>G (p.Ser681Cys)
c.*1166C>G (n.*1166C>G)
c.*1701C>G (n.*1701C>G)
c.2254C>G (n.2254C>G)
c.1874C>G (p.Ser625Cys)
c.1922C>G (p.Ser641Cys)
c.2018C>G (p.Ser673Cys)
c.1964C>G (p.Ser655Cys)
c.1925C>G (p.Ser642Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739446C>TCA402177225ASXL3c.2045C>T (p.Ser682Phe)
c.2042C>T (p.Ser681Phe)
c.*1166C>T (n.*1166C>T)
c.*1701C>T (n.*1701C>T)
c.2254C>T (n.2254C>T)
c.1874C>T (p.Ser625Phe)
c.1922C>T (p.Ser641Phe)
c.2018C>T (p.Ser673Phe)
c.1964C>T (p.Ser655Phe)
c.1925C>T (p.Ser642Phe)
18g.33739447T>ACA503768832ASXL3c.2046T>A (p.Ser682=)
c.2043T>A (p.Ser681=)
c.*1167T>A (n.*1167T>A)
c.*1702T>A (n.*1702T>A)
c.2255T>A (n.2255T>A)
c.1875T>A (p.Ser625=)
c.1923T>A (p.Ser641=)
c.2019T>A (p.Ser673=)
c.1965T>A (p.Ser655=)
c.1926T>A (p.Ser642=)
 gnomAD v4
18g.33739447T>CCA503768830ASXL3c.2046T>C (p.Ser682=)
c.2043T>C (p.Ser681=)
c.*1167T>C (n.*1167T>C)
c.*1702T>C (n.*1702T>C)
c.2255T>C (n.2255T>C)
c.1875T>C (p.Ser625=)
c.1923T>C (p.Ser641=)
c.2019T>C (p.Ser673=)
c.1965T>C (p.Ser655=)
c.1926T>C (p.Ser642=)
18g.33739447T>GCA503768828ASXL3c.2046T>G (p.Ser682=)
c.2043T>G (p.Ser681=)
c.*1167T>G (n.*1167T>G)
c.*1702T>G (n.*1702T>G)
c.2255T>G (n.2255T>G)
c.1875T>G (p.Ser625=)
c.1923T>G (p.Ser641=)
c.2019T>G (p.Ser673=)
c.1965T>G (p.Ser655=)
c.1926T>G (p.Ser642=)
18g.33739447_33739448insGACATCA2294855983ASXL3c.2046_2047insGACAT (p.Pro683AspfsTer21)
c.2043_2044insGACAT (p.Pro682AspfsTer21)
c.*1167_*1168insGACAT (n.*1167_*1168insGACAT)
c.*1702_*1703insGACAT (n.*1702_*1703insGACAT)
c.2255_2256insGACAT (n.2255_2256insGACAT)
c.1875_1876insGACAT (p.Pro626AspfsTer21)
c.1923_1924insGACAT (p.Pro642AspfsTer21)
c.2019_2020insGACAT (p.Pro674AspfsTer21)
c.1965_1966insGACAT (p.Pro656AspfsTer21)
c.1926_1927insGACAT (p.Pro643AspfsTer21)
 dbSNP
18g.33739448C>ACA402177228ASXL3c.2047C>A (p.Pro683Thr)
c.2044C>A (p.Pro682Thr)
c.*1168C>A (n.*1168C>A)
c.*1703C>A (n.*1703C>A)
c.2256C>A (n.2256C>A)
c.1876C>A (p.Pro626Thr)
c.1924C>A (p.Pro642Thr)
c.2020C>A (p.Pro674Thr)
c.1966C>A (p.Pro656Thr)
c.1927C>A (p.Pro643Thr)
18g.33739448C=CA2294855984ASXL3c.2047C= (p.Pro683=)
c.2044C= (p.Pro682=)
c.*1168C= (n.*1168C=)
c.*1703C= (n.*1703C=)
c.2256C= (n.2256C=)
c.1876C= (p.Pro626=)
c.1924C= (p.Pro642=)
c.2020C= (p.Pro674=)
c.1966C= (p.Pro656=)
c.1927C= (p.Pro643=)
18g.33739448C>GCA402177230ASXL3c.2047C>G (p.Pro683Ala)
c.2044C>G (p.Pro682Ala)
c.*1168C>G (n.*1168C>G)
c.*1703C>G (n.*1703C>G)
c.2256C>G (n.2256C>G)
c.1876C>G (p.Pro626Ala)
c.1924C>G (p.Pro642Ala)
c.2020C>G (p.Pro674Ala)
c.1966C>G (p.Pro656Ala)
c.1927C>G (p.Pro643Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.33739448C>TCA402177233ASXL3c.2047C>T (p.Pro683Ser)
c.2044C>T (p.Pro682Ser)
c.*1168C>T (n.*1168C>T)
c.*1703C>T (n.*1703C>T)
c.2256C>T (n.2256C>T)
c.1876C>T (p.Pro626Ser)
c.1924C>T (p.Pro642Ser)
c.2020C>T (p.Pro674Ser)
c.1966C>T (p.Pro656Ser)
c.1927C>T (p.Pro643Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.33739449C>ACA402177236ASXL3c.2048C>A (p.Pro683Gln)
c.2045C>A (p.Pro682Gln)
c.*1169C>A (n.*1169C>A)
c.*1704C>A (n.*1704C>A)
c.2257C>A (n.2257C>A)
c.1877C>A (p.Pro626Gln)
c.1925C>A (p.Pro642Gln)
c.2021C>A (p.Pro674Gln)
c.1967C>A (p.Pro656Gln)
c.1928C>A (p.Pro643Gln)
 dbSNP
18g.33739449C=CA2294855985ASXL3c.2048C= (p.Pro683=)
c.2045C= (p.Pro682=)
c.*1169C= (n.*1169C=)
c.*1704C= (n.*1704C=)
c.2257C= (n.2257C=)
c.1877C= (p.Pro626=)
c.1925C= (p.Pro642=)
c.2021C= (p.Pro674=)
c.1967C= (p.Pro656=)
c.1928C= (p.Pro643=)
18g.33739449C>GCA402177238ASXL3c.2048C>G (p.Pro683Arg)
c.2045C>G (p.Pro682Arg)
c.*1169C>G (n.*1169C>G)
c.*1704C>G (n.*1704C>G)
c.2257C>G (n.2257C>G)
c.1877C>G (p.Pro626Arg)
c.1925C>G (p.Pro642Arg)
c.2021C>G (p.Pro674Arg)
c.1967C>G (p.Pro656Arg)
c.1928C>G (p.Pro643Arg)
18g.33739449C>TCA402177240ASXL3c.2048C>T (p.Pro683Leu)
c.2045C>T (p.Pro682Leu)
c.*1169C>T (n.*1169C>T)
c.*1704C>T (n.*1704C>T)
c.2257C>T (n.2257C>T)
c.1877C>T (p.Pro626Leu)
c.1925C>T (p.Pro642Leu)
c.2021C>T (p.Pro674Leu)
c.1967C>T (p.Pro656Leu)
c.1928C>T (p.Pro643Leu)
18g.33739450A>CCA503768835ASXL3c.2049A>C (p.Pro683=)
c.2046A>C (p.Pro682=)
c.*1170A>C (n.*1170A>C)
c.*1705A>C (n.*1705A>C)
c.2258A>C (n.2258A>C)
c.1878A>C (p.Pro626=)
c.1926A>C (p.Pro642=)
c.2022A>C (p.Pro674=)
c.1968A>C (p.Pro656=)
c.1929A>C (p.Pro643=)
18g.33739450A>GCA503768834ASXL3c.2049A>G (p.Pro683=)
c.2046A>G (p.Pro682=)
c.*1170A>G (n.*1170A>G)
c.*1705A>G (n.*1705A>G)
c.2258A>G (n.2258A>G)
c.1878A>G (p.Pro626=)
c.1926A>G (p.Pro642=)
c.2022A>G (p.Pro674=)
c.1968A>G (p.Pro656=)
c.1929A>G (p.Pro643=)
 gnomAD v4
18g.33739450A>TCA503768833ASXL3c.2049A>T (p.Pro683=)
c.2046A>T (p.Pro682=)
c.*1170A>T (n.*1170A>T)
c.*1705A>T (n.*1705A>T)
c.2258A>T (n.2258A>T)
c.1878A>T (p.Pro626=)
c.1926A>T (p.Pro642=)
c.2022A>T (p.Pro674=)
c.1968A>T (p.Pro656=)
c.1929A>T (p.Pro643=)
18g.33739451_33739452insATAACA2740091790ASXL3c.2050_2051insATAA (p.Ile684AsnfsTer7)
c.2047_2048insATAA (p.Ile683AsnfsTer7)
c.*1171_*1172insATAA (n.*1171_*1172insATAA)
c.*1706_*1707insATAA (n.*1706_*1707insATAA)
c.2259_2260insATAA (n.2259_2260insATAA)
c.1879_1880insATAA (p.Ile627AsnfsTer7)
c.1927_1928insATAA (p.Ile643AsnfsTer7)
c.2023_2024insATAA (p.Ile675AsnfsTer7)
c.1969_1970insATAA (p.Ile657AsnfsTer7)
c.1930_1931insATAA (p.Ile644AsnfsTer7)
 ClinVar
18g.33739451A=CA2294855986ASXL3c.2050A= (p.Ile684=)
c.2047A= (p.Ile683=)
c.*1171A= (n.*1171A=)
c.*1706A= (n.*1706A=)
c.2259A= (n.2259A=)
c.1879A= (p.Ile627=)
c.1927A= (p.Ile643=)
c.2023A= (p.Ile675=)
c.1969A= (p.Ile657=)
c.1930A= (p.Ile644=)
18g.33739451A>CCA402177244ASXL3c.2050A>C (p.Ile684Leu)
c.2047A>C (p.Ile683Leu)
c.*1171A>C (n.*1171A>C)
c.*1706A>C (n.*1706A>C)
c.2259A>C (n.2259A>C)
c.1879A>C (p.Ile627Leu)
c.1927A>C (p.Ile643Leu)
c.2023A>C (p.Ile675Leu)
c.1969A>C (p.Ile657Leu)
c.1930A>C (p.Ile644Leu)
18g.33739451A>GCA402177245ASXL3c.2050A>G (p.Ile684Val)
c.2047A>G (p.Ile683Val)
c.*1171A>G (n.*1171A>G)
c.*1706A>G (n.*1706A>G)
c.2259A>G (n.2259A>G)
c.1879A>G (p.Ile627Val)
c.1927A>G (p.Ile643Val)
c.2023A>G (p.Ile675Val)
c.1969A>G (p.Ile657Val)
c.1930A>G (p.Ile644Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33739451A>TCA402177247ASXL3c.2050A>T (p.Ile684Leu)
c.2047A>T (p.Ile683Leu)
c.*1171A>T (n.*1171A>T)
c.*1706A>T (n.*1706A>T)
c.2259A>T (n.2259A>T)
c.1879A>T (p.Ile627Leu)
c.1927A>T (p.Ile643Leu)
c.2023A>T (p.Ile675Leu)
c.1969A>T (p.Ile657Leu)
c.1930A>T (p.Ile644Leu)
 dbSNP
18g.33739452T>ACA402177256ASXL3c.2051T>A (p.Ile684Lys)
c.2048T>A (p.Ile683Lys)
c.*1172T>A (n.*1172T>A)
c.*1707T>A (n.*1707T>A)
c.2260T>A (n.2260T>A)
c.1880T>A (p.Ile627Lys)
c.1928T>A (p.Ile643Lys)
c.2024T>A (p.Ile675Lys)
c.1970T>A (p.Ile657Lys)
c.1931T>A (p.Ile644Lys)
18g.33739452T>CCA402177254ASXL3c.2051T>C (p.Ile684Thr)
c.2048T>C (p.Ile683Thr)
c.*1172T>C (n.*1172T>C)
c.*1707T>C (n.*1707T>C)
c.2260T>C (n.2260T>C)
c.1880T>C (p.Ile627Thr)
c.1928T>C (p.Ile643Thr)
c.2024T>C (p.Ile675Thr)
c.1970T>C (p.Ile657Thr)
c.1931T>C (p.Ile644Thr)
18g.33739452T>GCA402177252ASXL3c.2051T>G (p.Ile684Arg)
c.2048T>G (p.Ile683Arg)
c.*1172T>G (n.*1172T>G)
c.*1707T>G (n.*1707T>G)
c.2260T>G (n.2260T>G)
c.1880T>G (p.Ile627Arg)
c.1928T>G (p.Ile643Arg)
c.2024T>G (p.Ile675Arg)
c.1970T>G (p.Ile657Arg)
c.1931T>G (p.Ile644Arg)
 dbSNP
18g.33739452T=CA2294855987ASXL3c.2051T= (p.Ile684=)
c.2048T= (p.Ile683=)
c.*1172T= (n.*1172T=)
c.*1707T= (n.*1707T=)
c.2260T= (n.2260T=)
c.1880T= (p.Ile627=)
c.1928T= (p.Ile643=)
c.2024T= (p.Ile675=)
c.1970T= (p.Ile657=)
c.1931T= (p.Ile644=)
18g.33739453A>CCA503768838ASXL3c.2052A>C (p.Ile684=)
c.2049A>C (p.Ile683=)
c.*1173A>C (n.*1173A>C)
c.*1708A>C (n.*1708A>C)
c.2261A>C (n.2261A>C)
c.1881A>C (p.Ile627=)
c.1929A>C (p.Ile643=)
c.2025A>C (p.Ile675=)
c.1971A>C (p.Ile657=)
c.1932A>C (p.Ile644=)
18g.33739453A>GCA402177258ASXL3c.2052A>G (p.Ile684Met)
c.2049A>G (p.Ile683Met)
c.*1173A>G (n.*1173A>G)
c.*1708A>G (n.*1708A>G)
c.2261A>G (n.2261A>G)
c.1881A>G (p.Ile627Met)
c.1929A>G (p.Ile643Met)
c.2025A>G (p.Ile675Met)
c.1971A>G (p.Ile657Met)
c.1932A>G (p.Ile644Met)
18g.33739453A>TCA503768839ASXL3c.2052A>T (p.Ile684=)
c.2049A>T (p.Ile683=)
c.*1173A>T (n.*1173A>T)
c.*1708A>T (n.*1708A>T)
c.2261A>T (n.2261A>T)
c.1881A>T (p.Ile627=)
c.1929A>T (p.Ile643=)
c.2025A>T (p.Ile675=)
c.1971A>T (p.Ile657=)
c.1932A>T (p.Ile644=)
18g.33739454T>ACA402177263ASXL3c.2053T>A (p.Ser685Thr)
c.2050T>A (p.Ser684Thr)
c.*1174T>A (n.*1174T>A)
c.*1709T>A (n.*1709T>A)
c.2262T>A (n.2262T>A)
c.1882T>A (p.Ser628Thr)
c.1930T>A (p.Ser644Thr)
c.2026T>A (p.Ser676Thr)
c.1972T>A (p.Ser658Thr)
c.1933T>A (p.Ser645Thr)
18g.33739454T>CCA402177261ASXL3c.2053T>C (p.Ser685Pro)
c.2050T>C (p.Ser684Pro)
c.*1174T>C (n.*1174T>C)
c.*1709T>C (n.*1709T>C)
c.2262T>C (n.2262T>C)
c.1882T>C (p.Ser628Pro)
c.1930T>C (p.Ser644Pro)
c.2026T>C (p.Ser676Pro)
c.1972T>C (p.Ser658Pro)
c.1933T>C (p.Ser645Pro)
18g.33739454T>GCA402177265ASXL3c.2053T>G (p.Ser685Ala)
c.2050T>G (p.Ser684Ala)
c.*1174T>G (n.*1174T>G)
c.*1709T>G (n.*1709T>G)
c.2262T>G (n.2262T>G)
c.1882T>G (p.Ser628Ala)
c.1930T>G (p.Ser644Ala)
c.2026T>G (p.Ser676Ala)
c.1972T>G (p.Ser658Ala)
c.1933T>G (p.Ser645Ala)
18g.33739455C>ACA402177267ASXL3c.2054C>A (p.Ser685Tyr)
c.2051C>A (p.Ser684Tyr)
c.*1175C>A (n.*1175C>A)
c.*1710C>A (n.*1710C>A)
c.2263C>A (n.2263C>A)
c.1883C>A (p.Ser628Tyr)
c.1931C>A (p.Ser644Tyr)
c.2027C>A (p.Ser676Tyr)
c.1973C>A (p.Ser658Tyr)
c.1934C>A (p.Ser645Tyr)
 COSMIC COSMIC
18g.33739455C=CA2294855988ASXL3c.2054C= (p.Ser685=)
c.2051C= (p.Ser684=)
c.*1175C= (n.*1175C=)
c.*1710C= (n.*1710C=)
c.2263C= (n.2263C=)
c.1883C= (p.Ser628=)
c.1931C= (p.Ser644=)
c.2027C= (p.Ser676=)
c.1973C= (p.Ser658=)
c.1934C= (p.Ser645=)
18g.33739455C>GCA402177272ASXL3c.2054C>G (p.Ser685Cys)
c.2051C>G (p.Ser684Cys)
c.*1175C>G (n.*1175C>G)
c.*1710C>G (n.*1710C>G)
c.2263C>G (n.2263C>G)
c.1883C>G (p.Ser628Cys)
c.1931C>G (p.Ser644Cys)
c.2027C>G (p.Ser676Cys)
c.1973C>G (p.Ser658Cys)
c.1934C>G (p.Ser645Cys)
 dbSNP
18g.33739455C>TCA402177269ASXL3c.2054C>T (p.Ser685Phe)
c.2051C>T (p.Ser684Phe)
c.*1175C>T (n.*1175C>T)
c.*1710C>T (n.*1710C>T)
c.2263C>T (n.2263C>T)
c.1883C>T (p.Ser628Phe)
c.1931C>T (p.Ser644Phe)
c.2027C>T (p.Ser676Phe)
c.1973C>T (p.Ser658Phe)
c.1934C>T (p.Ser645Phe)
18g.33739456C>ACA503768842ASXL3c.2055C>A (p.Ser685=)
c.2052C>A (p.Ser684=)
c.*1176C>A (n.*1176C>A)
c.*1711C>A (n.*1711C>A)
c.2264C>A (n.2264C>A)
c.1884C>A (p.Ser628=)
c.1932C>A (p.Ser644=)
c.2028C>A (p.Ser676=)
c.1974C>A (p.Ser658=)
c.1935C>A (p.Ser645=)
18g.33739456C>GCA503768843ASXL3c.2055C>G (p.Ser685=)
c.2052C>G (p.Ser684=)
c.*1176C>G (n.*1176C>G)
c.*1711C>G (n.*1711C>G)
c.2264C>G (n.2264C>G)
c.1884C>G (p.Ser628=)
c.1932C>G (p.Ser644=)
c.2028C>G (p.Ser676=)
c.1974C>G (p.Ser658=)
c.1935C>G (p.Ser645=)
 gnomAD v4
18g.33739456C>TCA503768844ASXL3c.2055C>T (p.Ser685=)
c.2052C>T (p.Ser684=)
c.*1176C>T (n.*1176C>T)
c.*1711C>T (n.*1711C>T)
c.2264C>T (n.2264C>T)
c.1884C>T (p.Ser628=)
c.1932C>T (p.Ser644=)
c.2028C>T (p.Ser676=)
c.1974C>T (p.Ser658=)
c.1935C>T (p.Ser645=)
18g.33739457A>CCA402177274ASXL3c.2056A>C (p.Thr686Pro)
c.2053A>C (p.Thr685Pro)
c.*1177A>C (n.*1177A>C)
c.*1712A>C (n.*1712A>C)
c.2265A>C (n.2265A>C)
c.1885A>C (p.Thr629Pro)
c.1933A>C (p.Thr645Pro)
c.2029A>C (p.Thr677Pro)
c.1975A>C (p.Thr659Pro)
c.1936A>C (p.Thr646Pro)
18g.33739457A>GCA402177278ASXL3c.2056A>G (p.Thr686Ala)
c.2053A>G (p.Thr685Ala)
c.*1177A>G (n.*1177A>G)
c.*1712A>G (n.*1712A>G)
c.2265A>G (n.2265A>G)
c.1885A>G (p.Thr629Ala)
c.1933A>G (p.Thr645Ala)
c.2029A>G (p.Thr677Ala)
c.1975A>G (p.Thr659Ala)
c.1936A>G (p.Thr646Ala)
18g.33739457A>TCA402177276ASXL3c.2056A>T (p.Thr686Ser)
c.2053A>T (p.Thr685Ser)
c.*1177A>T (n.*1177A>T)
c.*1712A>T (n.*1712A>T)
c.2265A>T (n.2265A>T)
c.1885A>T (p.Thr629Ser)
c.1933A>T (p.Thr645Ser)
c.2029A>T (p.Thr677Ser)
c.1975A>T (p.Thr659Ser)
c.1936A>T (p.Thr646Ser)
18g.33739457_33739464delinsACTTCACCCA2294855989ASXL3c.2056_2063delinsACTTCACC (p.Thr686=)
c.2053_2060delinsACTTCACC (p.Thr685=)
c.*1177_*1184delinsACTTCACC (n.*1177_*1184delinsACTTCACC)
c.*1712_*1719delinsACTTCACC (n.*1712_*1719delinsACTTCACC)
c.2265_2272delinsACTTCACC (n.2265_2272delinsACTTCACC)
c.1885_1892delinsACTTCACC (p.Thr629=)
c.1933_1940delinsACTTCACC (p.Thr645=)
c.2029_2036delinsACTTCACC (p.Thr677=)
c.1975_1982delinsACTTCACC (p.Thr659=)
c.1936_1943delinsACTTCACC (p.Thr646=)
18g.33739458C>ACA402177281ASXL3c.2057C>A (p.Thr686Asn)
c.2054C>A (p.Thr685Asn)
c.*1178C>A (n.*1178C>A)
c.*1713C>A (n.*1713C>A)
c.2266C>A (n.2266C>A)
c.1886C>A (p.Thr629Asn)
c.1934C>A (p.Thr645Asn)
c.2030C>A (p.Thr677Asn)
c.1976C>A (p.Thr659Asn)
c.1937C>A (p.Thr646Asn)
18g.33739458C=CA2294855991ASXL3c.2057C= (p.Thr686=)
c.2054C= (p.Thr685=)
c.*1178C= (n.*1178C=)
c.*1713C= (n.*1713C=)
c.2266C= (n.2266C=)
c.1886C= (p.Thr629=)
c.1934C= (p.Thr645=)
c.2030C= (p.Thr677=)
c.1976C= (p.Thr659=)
c.1937C= (p.Thr646=)
18g.33739458C>GCA402177283ASXL3c.2057C>G (p.Thr686Ser)
c.2054C>G (p.Thr685Ser)
c.*1178C>G (n.*1178C>G)
c.*1713C>G (n.*1713C>G)
c.2266C>G (n.2266C>G)
c.1886C>G (p.Thr629Ser)
c.1934C>G (p.Thr645Ser)
c.2030C>G (p.Thr677Ser)
c.1976C>G (p.Thr659Ser)
c.1937C>G (p.Thr646Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33739458C>TCA402177285ASXL3c.2057C>T (p.Thr686Ile)
c.2054C>T (p.Thr685Ile)
c.*1178C>T (n.*1178C>T)
c.*1713C>T (n.*1713C>T)
c.2266C>T (n.2266C>T)
c.1886C>T (p.Thr629Ile)
c.1934C>T (p.Thr645Ile)
c.2030C>T (p.Thr677Ile)
c.1976C>T (p.Thr659Ile)
c.1937C>T (p.Thr646Ile)
 dbSNP gnomAD v4
18g.33739458_33739464delCA2294855990ASXL3c.2057_2063del (p.Thr686MetfsTer14)
c.2054_2060del (p.Thr685MetfsTer14)
c.*1178_*1184del (n.*1178_*1184del)
c.*1713_*1719del (n.*1713_*1719del)
c.2266_2272del (n.2266_2272del)
c.1886_1892del (p.Thr629MetfsTer14)
c.1934_1940del (p.Thr645MetfsTer14)
c.2030_2036del (p.Thr677MetfsTer14)
c.1976_1982del (p.Thr659MetfsTer14)
c.1937_1943del (p.Thr646MetfsTer14)
 dbSNP
18g.33739459T>ACA503768849ASXL3c.2058T>A (p.Thr686=)
c.2055T>A (p.Thr685=)
c.*1179T>A (n.*1179T>A)
c.*1714T>A (n.*1714T>A)
c.2267T>A (n.2267T>A)
c.1887T>A (p.Thr629=)
c.1935T>A (p.Thr645=)
c.2031T>A (p.Thr677=)
c.1977T>A (p.Thr659=)
c.1938T>A (p.Thr646=)
18g.33739459T>CCA503768850ASXL3c.2058T>C (p.Thr686=)
c.2055T>C (p.Thr685=)
c.*1179T>C (n.*1179T>C)
c.*1714T>C (n.*1714T>C)
c.2267T>C (n.2267T>C)
c.1887T>C (p.Thr629=)
c.1935T>C (p.Thr645=)
c.2031T>C (p.Thr677=)
c.1977T>C (p.Thr659=)
c.1938T>C (p.Thr646=)
 gnomAD v4
18g.33739459T>GCA503768852ASXL3c.2058T>G (p.Thr686=)
c.2055T>G (p.Thr685=)
c.*1179T>G (n.*1179T>G)
c.*1714T>G (n.*1714T>G)
c.2267T>G (n.2267T>G)
c.1887T>G (p.Thr629=)
c.1935T>G (p.Thr645=)
c.2031T>G (p.Thr677=)
c.1977T>G (p.Thr659=)
c.1938T>G (p.Thr646=)
 dbSNP
18g.33739459T=CA2294855992ASXL3c.2058T= (p.Thr686=)
c.2055T= (p.Thr685=)
c.*1179T= (n.*1179T=)
c.*1714T= (n.*1714T=)
c.2267T= (n.2267T=)
c.1887T= (p.Thr629=)
c.1935T= (p.Thr645=)
c.2031T= (p.Thr677=)
c.1977T= (p.Thr659=)
c.1938T= (p.Thr646=)
18g.33739460T>ACA402177286ASXL3c.2059T>A (p.Ser687Thr)
c.2056T>A (p.Ser686Thr)
c.*1180T>A (n.*1180T>A)
c.*1715T>A (n.*1715T>A)
c.2268T>A (n.2268T>A)
c.1888T>A (p.Ser630Thr)
c.1936T>A (p.Ser646Thr)
c.2032T>A (p.Ser678Thr)
c.1978T>A (p.Ser660Thr)
c.1939T>A (p.Ser647Thr)
18g.33739460T>CCA402177287ASXL3c.2059T>C (p.Ser687Pro)
c.2056T>C (p.Ser686Pro)
c.*1180T>C (n.*1180T>C)
c.*1715T>C (n.*1715T>C)
c.2268T>C (n.2268T>C)
c.1888T>C (p.Ser630Pro)
c.1936T>C (p.Ser646Pro)
c.2032T>C (p.Ser678Pro)
c.1978T>C (p.Ser660Pro)
c.1939T>C (p.Ser647Pro)
18g.33739460T>GCA402177289ASXL3c.2059T>G (p.Ser687Ala)
c.2056T>G (p.Ser686Ala)
c.*1180T>G (n.*1180T>G)
c.*1715T>G (n.*1715T>G)
c.2268T>G (n.2268T>G)
c.1888T>G (p.Ser630Ala)
c.1936T>G (p.Ser646Ala)
c.2032T>G (p.Ser678Ala)
c.1978T>G (p.Ser660Ala)
c.1939T>G (p.Ser647Ala)
18g.33739461C>ACA402177290ASXL3c.2060C>A (p.Ser687Ter)
c.2057C>A (p.Ser686Ter)
c.*1181C>A (n.*1181C>A)
c.*1716C>A (n.*1716C>A)
c.2269C>A (n.2269C>A)
c.1889C>A (p.Ser630Ter)
c.1937C>A (p.Ser646Ter)
c.2033C>A (p.Ser678Ter)
c.1979C>A (p.Ser660Ter)
c.1940C>A (p.Ser647Ter)
18g.33739461C>GCA402177291ASXL3c.2060C>G (p.Ser687Ter)
c.2057C>G (p.Ser686Ter)
c.*1181C>G (n.*1181C>G)
c.*1716C>G (n.*1716C>G)
c.2269C>G (n.2269C>G)
c.1889C>G (p.Ser630Ter)
c.1937C>G (p.Ser646Ter)
c.2033C>G (p.Ser678Ter)
c.1979C>G (p.Ser660Ter)
c.1940C>G (p.Ser647Ter)
18g.33739461C>TCA402177292ASXL3c.2060C>T (p.Ser687Leu)
c.2057C>T (p.Ser686Leu)
c.*1181C>T (n.*1181C>T)
c.*1716C>T (n.*1716C>T)
c.2269C>T (n.2269C>T)
c.1889C>T (p.Ser630Leu)
c.1937C>T (p.Ser646Leu)
c.2033C>T (p.Ser678Leu)
c.1979C>T (p.Ser660Leu)
c.1940C>T (p.Ser647Leu)
 COSMIC COSMIC
18g.33739462A>CCA503768860ASXL3c.2061A>C (p.Ser687=)
c.2058A>C (p.Ser686=)
c.*1182A>C (n.*1182A>C)
c.*1717A>C (n.*1717A>C)
c.2270A>C (n.2270A>C)
c.1890A>C (p.Ser630=)
c.1938A>C (p.Ser646=)
c.2034A>C (p.Ser678=)
c.1980A>C (p.Ser660=)
c.1941A>C (p.Ser647=)
 gnomAD v4
18g.33739462A>GCA503768861ASXL3c.2061A>G (p.Ser687=)
c.2058A>G (p.Ser686=)
c.*1182A>G (n.*1182A>G)
c.*1717A>G (n.*1717A>G)
c.2270A>G (n.2270A>G)
c.1890A>G (p.Ser630=)
c.1938A>G (p.Ser646=)
c.2034A>G (p.Ser678=)
c.1980A>G (p.Ser660=)
c.1941A>G (p.Ser647=)
 gnomAD v4
18g.33739462A>TCA503768862ASXL3c.2061A>T (p.Ser687=)
c.2058A>T (p.Ser686=)
c.*1182A>T (n.*1182A>T)
c.*1717A>T (n.*1717A>T)
c.2270A>T (n.2270A>T)
c.1890A>T (p.Ser630=)
c.1938A>T (p.Ser646=)
c.2034A>T (p.Ser678=)
c.1980A>T (p.Ser660=)
c.1941A>T (p.Ser647=)
18g.33739463C>ACA8933861ASXL3c.2062C>A (p.Pro688Thr)
c.2059C>A (p.Pro687Thr)
c.*1183C>A (n.*1183C>A)
c.*1718C>A (n.*1718C>A)
c.2271C>A (n.2271C>A)
c.1891C>A (p.Pro631Thr)
c.1939C>A (p.Pro647Thr)
c.2035C>A (p.Pro679Thr)
c.1981C>A (p.Pro661Thr)
c.1942C>A (p.Pro648Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739463C=CA2294855993ASXL3c.2062C= (p.Pro688=)
c.2059C= (p.Pro687=)
c.*1183C= (n.*1183C=)
c.*1718C= (n.*1718C=)
c.2271C= (n.2271C=)
c.1891C= (p.Pro631=)
c.1939C= (p.Pro647=)
c.2035C= (p.Pro679=)
c.1981C= (p.Pro661=)
c.1942C= (p.Pro648=)
18g.33739463C>GCA402177296ASXL3c.2062C>G (p.Pro688Ala)
c.2059C>G (p.Pro687Ala)
c.*1183C>G (n.*1183C>G)
c.*1718C>G (n.*1718C>G)
c.2271C>G (n.2271C>G)
c.1891C>G (p.Pro631Ala)
c.1939C>G (p.Pro647Ala)
c.2035C>G (p.Pro679Ala)
c.1981C>G (p.Pro661Ala)
c.1942C>G (p.Pro648Ala)
18g.33739463C>TCA402177294ASXL3c.2062C>T (p.Pro688Ser)
c.2059C>T (p.Pro687Ser)
c.*1183C>T (n.*1183C>T)
c.*1718C>T (n.*1718C>T)
c.2271C>T (n.2271C>T)
c.1891C>T (p.Pro631Ser)
c.1939C>T (p.Pro647Ser)
c.2035C>T (p.Pro679Ser)
c.1981C>T (p.Pro661Ser)
c.1942C>T (p.Pro648Ser)
 gnomAD v4
18g.33739464C>ACA402177300ASXL3c.2063C>A (p.Pro688His)
c.2060C>A (p.Pro687His)
c.*1184C>A (n.*1184C>A)
c.*1719C>A (n.*1719C>A)
c.2272C>A (n.2272C>A)
c.1892C>A (p.Pro631His)
c.1940C>A (p.Pro647His)
c.2036C>A (p.Pro679His)
c.1982C>A (p.Pro661His)
c.1943C>A (p.Pro648His)
18g.33739464C=CA2294855994ASXL3c.2063C= (p.Pro688=)
c.2060C= (p.Pro687=)
c.*1184C= (n.*1184C=)
c.*1719C= (n.*1719C=)
c.2272C= (n.2272C=)
c.1892C= (p.Pro631=)
c.1940C= (p.Pro647=)
c.2036C= (p.Pro679=)
c.1982C= (p.Pro661=)
c.1943C= (p.Pro648=)
18g.33739464C>GCA402177302ASXL3c.2063C>G (p.Pro688Arg)
c.2060C>G (p.Pro687Arg)
c.*1184C>G (n.*1184C>G)
c.*1719C>G (n.*1719C>G)
c.2272C>G (n.2272C>G)
c.1892C>G (p.Pro631Arg)
c.1940C>G (p.Pro647Arg)
c.2036C>G (p.Pro679Arg)
c.1982C>G (p.Pro661Arg)
c.1943C>G (p.Pro648Arg)
 dbSNP
18g.33739464C>TCA402177304ASXL3c.2063C>T (p.Pro688Leu)
c.2060C>T (p.Pro687Leu)
c.*1184C>T (n.*1184C>T)
c.*1719C>T (n.*1719C>T)
c.2272C>T (n.2272C>T)
c.1892C>T (p.Pro631Leu)
c.1940C>T (p.Pro647Leu)
c.2036C>T (p.Pro679Leu)
c.1982C>T (p.Pro661Leu)
c.1943C>T (p.Pro648Leu)
 COSMIC COSMIC
18g.33739465T>ACA503768868ASXL3c.2064T>A (p.Pro688=)
c.2061T>A (p.Pro687=)
c.*1185T>A (n.*1185T>A)
c.*1720T>A (n.*1720T>A)
c.2273T>A (n.2273T>A)
c.1893T>A (p.Pro631=)
c.1941T>A (p.Pro647=)
c.2037T>A (p.Pro679=)
c.1983T>A (p.Pro661=)
c.1944T>A (p.Pro648=)
18g.33739465T>CCA503768869ASXL3c.2064T>C (p.Pro688=)
c.2061T>C (p.Pro687=)
c.*1185T>C (n.*1185T>C)
c.*1720T>C (n.*1720T>C)
c.2273T>C (n.2273T>C)
c.1893T>C (p.Pro631=)
c.1941T>C (p.Pro647=)
c.2037T>C (p.Pro679=)
c.1983T>C (p.Pro661=)
c.1944T>C (p.Pro648=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739465T>GCA503768870ASXL3c.2064T>G (p.Pro688=)
c.2061T>G (p.Pro687=)
c.*1185T>G (n.*1185T>G)
c.*1720T>G (n.*1720T>G)
c.2273T>G (n.2273T>G)
c.1893T>G (p.Pro631=)
c.1941T>G (p.Pro647=)
c.2037T>G (p.Pro679=)
c.1983T>G (p.Pro661=)
c.1944T>G (p.Pro648=)
18g.33739465T=CA2294855995ASXL3c.2064T= (p.Pro688=)
c.2061T= (p.Pro687=)
c.*1185T= (n.*1185T=)
c.*1720T= (n.*1720T=)
c.2273T= (n.2273T=)
c.1893T= (p.Pro631=)
c.1941T= (p.Pro647=)
c.2037T= (p.Pro679=)
c.1983T= (p.Pro661=)
c.1944T= (p.Pro648=)
18g.33739466G>ACA402177306ASXL3c.2065G>A (p.Glu689Lys)
c.2062G>A (p.Glu688Lys)
c.*1186G>A (n.*1186G>A)
c.*1721G>A (n.*1721G>A)
c.2274G>A (n.2274G>A)
c.1894G>A (p.Glu632Lys)
c.1942G>A (p.Glu648Lys)
c.2038G>A (p.Glu680Lys)
c.1984G>A (p.Glu662Lys)
c.1945G>A (p.Glu649Lys)
18g.33739466G>CCA402177308ASXL3c.2065G>C (p.Glu689Gln)
c.2062G>C (p.Glu688Gln)
c.*1186G>C (n.*1186G>C)
c.*1721G>C (n.*1721G>C)
c.2274G>C (n.2274G>C)
c.1894G>C (p.Glu632Gln)
c.1942G>C (p.Glu648Gln)
c.2038G>C (p.Glu680Gln)
c.1984G>C (p.Glu662Gln)
c.1945G>C (p.Glu649Gln)
18g.33739466G>TCA402177310ASXL3c.2065G>T (p.Glu689Ter)
c.2062G>T (p.Glu688Ter)
c.*1186G>T (n.*1186G>T)
c.*1721G>T (n.*1721G>T)
c.2274G>T (n.2274G>T)
c.1894G>T (p.Glu632Ter)
c.1942G>T (p.Glu648Ter)
c.2038G>T (p.Glu680Ter)
c.1984G>T (p.Glu662Ter)
c.1945G>T (p.Glu649Ter)
18g.33739467A>CCA402177313ASXL3c.2066A>C (p.Glu689Ala)
c.2063A>C (p.Glu688Ala)
c.*1187A>C (n.*1187A>C)
c.*1722A>C (n.*1722A>C)
c.2275A>C (n.2275A>C)
c.1895A>C (p.Glu632Ala)
c.1943A>C (p.Glu648Ala)
c.2039A>C (p.Glu680Ala)
c.1985A>C (p.Glu662Ala)
c.1946A>C (p.Glu649Ala)
18g.33739467A>GCA402177315ASXL3c.2066A>G (p.Glu689Gly)
c.2063A>G (p.Glu688Gly)
c.*1187A>G (n.*1187A>G)
c.*1722A>G (n.*1722A>G)
c.2275A>G (n.2275A>G)
c.1895A>G (p.Glu632Gly)
c.1943A>G (p.Glu648Gly)
c.2039A>G (p.Glu680Gly)
c.1985A>G (p.Glu662Gly)
c.1946A>G (p.Glu649Gly)
18g.33739467A>TCA402177317ASXL3c.2066A>T (p.Glu689Val)
c.2063A>T (p.Glu688Val)
c.*1187A>T (n.*1187A>T)
c.*1722A>T (n.*1722A>T)
c.2275A>T (n.2275A>T)
c.1895A>T (p.Glu632Val)
c.1943A>T (p.Glu648Val)
c.2039A>T (p.Glu680Val)
c.1985A>T (p.Glu662Val)
c.1946A>T (p.Glu649Val)
18g.33739468A>CCA402177318ASXL3c.2067A>C (p.Glu689Asp)
c.2064A>C (p.Glu688Asp)
c.*1188A>C (n.*1188A>C)
c.*1723A>C (n.*1723A>C)
c.2276A>C (n.2276A>C)
c.1896A>C (p.Glu632Asp)
c.1944A>C (p.Glu648Asp)
c.2040A>C (p.Glu680Asp)
c.1986A>C (p.Glu662Asp)
c.1947A>C (p.Glu649Asp)
18g.33739468A>GCA503768872ASXL3c.2067A>G (p.Glu689=)
c.2064A>G (p.Glu688=)
c.*1188A>G (n.*1188A>G)
c.*1723A>G (n.*1723A>G)
c.2276A>G (n.2276A>G)
c.1896A>G (p.Glu632=)
c.1944A>G (p.Glu648=)
c.2040A>G (p.Glu680=)
c.1986A>G (p.Glu662=)
c.1947A>G (p.Glu649=)
18g.33739468A>TCA402177319ASXL3c.2067A>T (p.Glu689Asp)
c.2064A>T (p.Glu688Asp)
c.*1188A>T (n.*1188A>T)
c.*1723A>T (n.*1723A>T)
c.2276A>T (n.2276A>T)
c.1896A>T (p.Glu632Asp)
c.1944A>T (p.Glu648Asp)
c.2040A>T (p.Glu680Asp)
c.1986A>T (p.Glu662Asp)
c.1947A>T (p.Glu649Asp)
18g.33739469_33739471delCA2641457416ASXL3c.2068_2070del (p.Ile690del)
c.2065_2067del (p.Ile689del)
c.*1189_*1191del (n.*1189_*1191del)
c.*1724_*1726del (n.*1724_*1726del)
c.2277_2279del (n.2277_2279del)
c.1897_1899del (p.Ile633del)
c.1945_1947del (p.Ile649del)
c.2041_2043del (p.Ile681del)
c.1987_1989del (p.Ile663del)
c.1948_1950del (p.Ile650del)
 gnomAD v4
18g.33739469A=CA2294855996ASXL3c.2068A= (p.Ile690=)
c.2065A= (p.Ile689=)
c.*1189A= (n.*1189A=)
c.*1724A= (n.*1724A=)
c.2277A= (n.2277A=)
c.1897A= (p.Ile633=)
c.1945A= (p.Ile649=)
c.2041A= (p.Ile681=)
c.1987A= (p.Ile663=)
c.1948A= (p.Ile650=)
18g.33739469A>CCA8933862ASXL3c.2068A>C (p.Ile690Leu)
c.2065A>C (p.Ile689Leu)
c.*1189A>C (n.*1189A>C)
c.*1724A>C (n.*1724A>C)
c.2277A>C (n.2277A>C)
c.1897A>C (p.Ile633Leu)
c.1945A>C (p.Ile649Leu)
c.2041A>C (p.Ile681Leu)
c.1987A>C (p.Ile663Leu)
c.1948A>C (p.Ile650Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739469A>GCA402177321ASXL3c.2068A>G (p.Ile690Val)
c.2065A>G (p.Ile689Val)
c.*1189A>G (n.*1189A>G)
c.*1724A>G (n.*1724A>G)
c.2277A>G (n.2277A>G)
c.1897A>G (p.Ile633Val)
c.1945A>G (p.Ile649Val)
c.2041A>G (p.Ile681Val)
c.1987A>G (p.Ile663Val)
c.1948A>G (p.Ile650Val)
 dbSNP gnomAD v2 gnomAD v4
18g.33739469A>TCA402177320ASXL3c.2068A>T (p.Ile690Leu)
c.2065A>T (p.Ile689Leu)
c.*1189A>T (n.*1189A>T)
c.*1724A>T (n.*1724A>T)
c.2277A>T (n.2277A>T)
c.1897A>T (p.Ile633Leu)
c.1945A>T (p.Ile649Leu)
c.2041A>T (p.Ile681Leu)
c.1987A>T (p.Ile663Leu)
c.1948A>T (p.Ile650Leu)
 gnomAD v4
18g.33739470delCA2695227384ASXL3c.2069del (p.Ile690AsnfsTer12)
c.2066del (p.Ile689AsnfsTer12)
c.*1190del (n.*1190del)
c.*1725del (n.*1725del)
c.2278del (n.2278del)
c.1898del (p.Ile633AsnfsTer12)
c.1946del (p.Ile649AsnfsTer12)
c.2042del (p.Ile681AsnfsTer12)
c.1988del (p.Ile663AsnfsTer12)
c.1949del (p.Ile650AsnfsTer12)
18g.33739470T>ACA402177322ASXL3c.2069T>A (p.Ile690Lys)
c.2066T>A (p.Ile689Lys)
c.*1190T>A (n.*1190T>A)
c.*1725T>A (n.*1725T>A)
c.2278T>A (n.2278T>A)
c.1898T>A (p.Ile633Lys)
c.1946T>A (p.Ile649Lys)
c.2042T>A (p.Ile681Lys)
c.1988T>A (p.Ile663Lys)
c.1949T>A (p.Ile650Lys)
18g.33739470T>CCA402177323ASXL3c.2069T>C (p.Ile690Thr)
c.2066T>C (p.Ile689Thr)
c.*1190T>C (n.*1190T>C)
c.*1725T>C (n.*1725T>C)
c.2278T>C (n.2278T>C)
c.1898T>C (p.Ile633Thr)
c.1946T>C (p.Ile649Thr)
c.2042T>C (p.Ile681Thr)
c.1988T>C (p.Ile663Thr)
c.1949T>C (p.Ile650Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33739470T>GCA402177324ASXL3c.2069T>G (p.Ile690Arg)
c.2066T>G (p.Ile689Arg)
c.*1190T>G (n.*1190T>G)
c.*1725T>G (n.*1725T>G)
c.2278T>G (n.2278T>G)
c.1898T>G (p.Ile633Arg)
c.1946T>G (p.Ile649Arg)
c.2042T>G (p.Ile681Arg)
c.1988T>G (p.Ile663Arg)
c.1949T>G (p.Ile650Arg)
18g.33739470T=CA2294855997ASXL3c.2069T= (p.Ile690=)
c.2066T= (p.Ile689=)
c.*1190T= (n.*1190T=)
c.*1725T= (n.*1725T=)
c.2278T= (n.2278T=)
c.1898T= (p.Ile633=)
c.1946T= (p.Ile649=)
c.2042T= (p.Ile681=)
c.1988T= (p.Ile663=)
c.1949T= (p.Ile650=)
18g.33739471A>CCA503768876ASXL3c.2070A>C (p.Ile690=)
c.2067A>C (p.Ile689=)
c.*1191A>C (n.*1191A>C)
c.*1726A>C (n.*1726A>C)
c.2279A>C (n.2279A>C)
c.1899A>C (p.Ile633=)
c.1947A>C (p.Ile649=)
c.2043A>C (p.Ile681=)
c.1989A>C (p.Ile663=)
c.1950A>C (p.Ile650=)
18g.33739471A>GCA402177325ASXL3c.2070A>G (p.Ile690Met)
c.2067A>G (p.Ile689Met)
c.*1191A>G (n.*1191A>G)
c.*1726A>G (n.*1726A>G)
c.2279A>G (n.2279A>G)
c.1899A>G (p.Ile633Met)
c.1947A>G (p.Ile649Met)
c.2043A>G (p.Ile681Met)
c.1989A>G (p.Ile663Met)
c.1950A>G (p.Ile650Met)
18g.33739471A>TCA503768877ASXL3c.2070A>T (p.Ile690=)
c.2067A>T (p.Ile689=)
c.*1191A>T (n.*1191A>T)
c.*1726A>T (n.*1726A>T)
c.2279A>T (n.2279A>T)
c.1899A>T (p.Ile633=)
c.1947A>T (p.Ile649=)
c.2043A>T (p.Ile681=)
c.1989A>T (p.Ile663=)
c.1950A>T (p.Ile650=)
18g.33739472T>ACA402177328ASXL3c.2071T>A (p.Ser691Thr)
c.2068T>A (p.Ser690Thr)
c.*1192T>A (n.*1192T>A)
c.*1727T>A (n.*1727T>A)
c.2280T>A (n.2280T>A)
c.1900T>A (p.Ser634Thr)
c.1948T>A (p.Ser650Thr)
c.2044T>A (p.Ser682Thr)
c.1990T>A (p.Ser664Thr)
c.1951T>A (p.Ser651Thr)
18g.33739472T>CCA402177327ASXL3c.2071T>C (p.Ser691Pro)
c.2068T>C (p.Ser690Pro)
c.*1192T>C (n.*1192T>C)
c.*1727T>C (n.*1727T>C)
c.2280T>C (n.2280T>C)
c.1900T>C (p.Ser634Pro)
c.1948T>C (p.Ser650Pro)
c.2044T>C (p.Ser682Pro)
c.1990T>C (p.Ser664Pro)
c.1951T>C (p.Ser651Pro)
 ClinVar dbSNP
18g.33739472T>GCA402177326ASXL3c.2071T>G (p.Ser691Ala)
c.2068T>G (p.Ser690Ala)
c.*1192T>G (n.*1192T>G)
c.*1727T>G (n.*1727T>G)
c.2280T>G (n.2280T>G)
c.1900T>G (p.Ser634Ala)
c.1948T>G (p.Ser650Ala)
c.2044T>G (p.Ser682Ala)
c.1990T>G (p.Ser664Ala)
c.1951T>G (p.Ser651Ala)
18g.33739472T=CA2294855998ASXL3c.2071T= (p.Ser691=)
c.2068T= (p.Ser690=)
c.*1192T= (n.*1192T=)
c.*1727T= (n.*1727T=)
c.2280T= (n.2280T=)
c.1900T= (p.Ser634=)
c.1948T= (p.Ser650=)
c.2044T= (p.Ser682=)
c.1990T= (p.Ser664=)
c.1951T= (p.Ser651=)
18g.33739473C>ACA402177329ASXL3c.2072C>A (p.Ser691Ter)
c.2069C>A (p.Ser690Ter)
c.*1193C>A (n.*1193C>A)
c.*1728C>A (n.*1728C>A)
c.2281C>A (n.2281C>A)
c.1901C>A (p.Ser634Ter)
c.1949C>A (p.Ser650Ter)
c.2045C>A (p.Ser682Ter)
c.1991C>A (p.Ser664Ter)
c.1952C>A (p.Ser651Ter)
18g.33739473C>GCA402177330ASXL3c.2072C>G (p.Ser691Ter)
c.2069C>G (p.Ser690Ter)
c.*1193C>G (n.*1193C>G)
c.*1728C>G (n.*1728C>G)
c.2281C>G (n.2281C>G)
c.1901C>G (p.Ser634Ter)
c.1949C>G (p.Ser650Ter)
c.2045C>G (p.Ser682Ter)
c.1991C>G (p.Ser664Ter)
c.1952C>G (p.Ser651Ter)
18g.33739473C>TCA402177331ASXL3c.2072C>T (p.Ser691Leu)
c.2069C>T (p.Ser690Leu)
c.*1193C>T (n.*1193C>T)
c.*1728C>T (n.*1728C>T)
c.2281C>T (n.2281C>T)
c.1901C>T (p.Ser634Leu)
c.1949C>T (p.Ser650Leu)
c.2045C>T (p.Ser682Leu)
c.1991C>T (p.Ser664Leu)
c.1952C>T (p.Ser651Leu)
18g.33739474delCA2740091791ASXL3c.2073del (p.Glu692LysfsTer10)
c.2070del (p.Glu691LysfsTer10)
c.*1194del (n.*1194del)
c.*1729del (n.*1729del)
c.2282del (n.2282del)
c.1902del (p.Glu635LysfsTer10)
c.1950del (p.Glu651LysfsTer10)
c.2046del (p.Glu683LysfsTer10)
c.1992del (p.Glu665LysfsTer10)
c.1953del (p.Glu652LysfsTer10)
 ClinVar
18g.33739474A>CCA503768881ASXL3c.2073A>C (p.Ser691=)
c.2070A>C (p.Ser690=)
c.*1194A>C (n.*1194A>C)
c.*1729A>C (n.*1729A>C)
c.2282A>C (n.2282A>C)
c.1902A>C (p.Ser634=)
c.1950A>C (p.Ser650=)
c.2046A>C (p.Ser682=)
c.1992A>C (p.Ser664=)
c.1953A>C (p.Ser651=)
18g.33739474A>GCA503768879ASXL3c.2073A>G (p.Ser691=)
c.2070A>G (p.Ser690=)
c.*1194A>G (n.*1194A>G)
c.*1729A>G (n.*1729A>G)
c.2282A>G (n.2282A>G)
c.1902A>G (p.Ser634=)
c.1950A>G (p.Ser650=)
c.2046A>G (p.Ser682=)
c.1992A>G (p.Ser664=)
c.1953A>G (p.Ser651=)
 gnomAD v4
18g.33739474A>TCA503768880ASXL3c.2073A>T (p.Ser691=)
c.2070A>T (p.Ser690=)
c.*1194A>T (n.*1194A>T)
c.*1729A>T (n.*1729A>T)
c.2282A>T (n.2282A>T)
c.1902A>T (p.Ser634=)
c.1950A>T (p.Ser650=)
c.2046A>T (p.Ser682=)
c.1992A>T (p.Ser664=)
c.1953A>T (p.Ser651=)
18g.33739475G>ACA402177332ASXL3c.2074G>A (p.Glu692Lys)
c.2071G>A (p.Glu691Lys)
c.*1195G>A (n.*1195G>A)
c.*1730G>A (n.*1730G>A)
c.2283G>A (n.2283G>A)
c.1903G>A (p.Glu635Lys)
c.1951G>A (p.Glu651Lys)
c.2047G>A (p.Glu683Lys)
c.1993G>A (p.Glu665Lys)
c.1954G>A (p.Glu652Lys)
18g.33739475G>CCA402177333ASXL3c.2074G>C (p.Glu692Gln)
c.2071G>C (p.Glu691Gln)
c.*1195G>C (n.*1195G>C)
c.*1730G>C (n.*1730G>C)
c.2283G>C (n.2283G>C)
c.1903G>C (p.Glu635Gln)
c.1951G>C (p.Glu651Gln)
c.2047G>C (p.Glu683Gln)
c.1993G>C (p.Glu665Gln)
c.1954G>C (p.Glu652Gln)
18g.33739475G>TCA402177334ASXL3c.2074G>T (p.Glu692Ter)
c.2071G>T (p.Glu691Ter)
c.*1195G>T (n.*1195G>T)
c.*1730G>T (n.*1730G>T)
c.2283G>T (n.2283G>T)
c.1903G>T (p.Glu635Ter)
c.1951G>T (p.Glu651Ter)
c.2047G>T (p.Glu683Ter)
c.1993G>T (p.Glu665Ter)
c.1954G>T (p.Glu652Ter)
18g.33739476A>CCA402177335ASXL3c.2075A>C (p.Glu692Ala)
c.2072A>C (p.Glu691Ala)
c.*1196A>C (n.*1196A>C)
c.*1731A>C (n.*1731A>C)
c.2284A>C (n.2284A>C)
c.1904A>C (p.Glu635Ala)
c.1952A>C (p.Glu651Ala)
c.2048A>C (p.Glu683Ala)
c.1994A>C (p.Glu665Ala)
c.1955A>C (p.Glu652Ala)
18g.33739476A>GCA402177337ASXL3c.2075A>G (p.Glu692Gly)
c.2072A>G (p.Glu691Gly)
c.*1196A>G (n.*1196A>G)
c.*1731A>G (n.*1731A>G)
c.2284A>G (n.2284A>G)
c.1904A>G (p.Glu635Gly)
c.1952A>G (p.Glu651Gly)
c.2048A>G (p.Glu683Gly)
c.1994A>G (p.Glu665Gly)
c.1955A>G (p.Glu652Gly)
18g.33739476A>TCA402177336ASXL3c.2075A>T (p.Glu692Val)
c.2072A>T (p.Glu691Val)
c.*1196A>T (n.*1196A>T)
c.*1731A>T (n.*1731A>T)
c.2284A>T (n.2284A>T)
c.1904A>T (p.Glu635Val)
c.1952A>T (p.Glu651Val)
c.2048A>T (p.Glu683Val)
c.1994A>T (p.Glu665Val)
c.1955A>T (p.Glu652Val)
18g.33739477A>CCA402177338ASXL3c.2076A>C (p.Glu692Asp)
c.2073A>C (p.Glu691Asp)
c.*1197A>C (n.*1197A>C)
c.*1732A>C (n.*1732A>C)
c.2285A>C (n.2285A>C)
c.1905A>C (p.Glu635Asp)
c.1953A>C (p.Glu651Asp)
c.2049A>C (p.Glu683Asp)
c.1995A>C (p.Glu665Asp)
c.1956A>C (p.Glu652Asp)
18g.33739477A>GCA503768886ASXL3c.2076A>G (p.Glu692=)
c.2073A>G (p.Glu691=)
c.*1197A>G (n.*1197A>G)
c.*1732A>G (n.*1732A>G)
c.2285A>G (n.2285A>G)
c.1905A>G (p.Glu635=)
c.1953A>G (p.Glu651=)
c.2049A>G (p.Glu683=)
c.1995A>G (p.Glu665=)
c.1956A>G (p.Glu652=)
18g.33739477A>TCA402177339ASXL3c.2076A>T (p.Glu692Asp)
c.2073A>T (p.Glu691Asp)
c.*1197A>T (n.*1197A>T)
c.*1732A>T (n.*1732A>T)
c.2285A>T (n.2285A>T)
c.1905A>T (p.Glu635Asp)
c.1953A>T (p.Glu651Asp)
c.2049A>T (p.Glu683Asp)
c.1995A>T (p.Glu665Asp)
c.1956A>T (p.Glu652Asp)
18g.33739478G>ACA402177340ASXL3c.2077G>A (p.Ala693Thr)
c.2074G>A (p.Ala692Thr)
c.*1198G>A (n.*1198G>A)
c.*1733G>A (n.*1733G>A)
c.2286G>A (n.2286G>A)
c.1906G>A (p.Ala636Thr)
c.1954G>A (p.Ala652Thr)
c.2050G>A (p.Ala684Thr)
c.1996G>A (p.Ala666Thr)
c.1957G>A (p.Ala653Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739478G>CCA402177341ASXL3c.2077G>C (p.Ala693Pro)
c.2074G>C (p.Ala692Pro)
c.*1198G>C (n.*1198G>C)
c.*1733G>C (n.*1733G>C)
c.2286G>C (n.2286G>C)
c.1906G>C (p.Ala636Pro)
c.1954G>C (p.Ala652Pro)
c.2050G>C (p.Ala684Pro)
c.1996G>C (p.Ala666Pro)
c.1957G>C (p.Ala653Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33739478G=CA2294855999ASXL3c.2077G= (p.Ala693=)
c.2074G= (p.Ala692=)
c.*1198G= (n.*1198G=)
c.*1733G= (n.*1733G=)
c.2286G= (n.2286G=)
c.1906G= (p.Ala636=)
c.1954G= (p.Ala652=)
c.2050G= (p.Ala684=)
c.1996G= (p.Ala666=)
c.1957G= (p.Ala653=)
18g.33739478G>TCA402177342ASXL3c.2077G>T (p.Ala693Ser)
c.2074G>T (p.Ala692Ser)
c.*1198G>T (n.*1198G>T)
c.*1733G>T (n.*1733G>T)
c.2286G>T (n.2286G>T)
c.1906G>T (p.Ala636Ser)
c.1954G>T (p.Ala652Ser)
c.2050G>T (p.Ala684Ser)
c.1996G>T (p.Ala666Ser)
c.1957G>T (p.Ala653Ser)
18g.33739479C>ACA297787236ASXL3c.2078C>A (p.Ala693Glu)
c.2075C>A (p.Ala692Glu)
c.*1199C>A (n.*1199C>A)
c.*1734C>A (n.*1734C>A)
c.2287C>A (n.2287C>A)
c.1907C>A (p.Ala636Glu)
c.1955C>A (p.Ala652Glu)
c.2051C>A (p.Ala684Glu)
c.1997C>A (p.Ala666Glu)
c.1958C>A (p.Ala653Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33739479C=CA2294856000ASXL3c.2078C= (p.Ala693=)
c.2075C= (p.Ala692=)
c.*1199C= (n.*1199C=)
c.*1734C= (n.*1734C=)
c.2287C= (n.2287C=)
c.1907C= (p.Ala636=)
c.1955C= (p.Ala652=)
c.2051C= (p.Ala684=)
c.1997C= (p.Ala666=)
c.1958C= (p.Ala653=)
18g.33739479C>GCA402177343ASXL3c.2078C>G (p.Ala693Gly)
c.2075C>G (p.Ala692Gly)
c.*1199C>G (n.*1199C>G)
c.*1734C>G (n.*1734C>G)
c.2287C>G (n.2287C>G)
c.1907C>G (p.Ala636Gly)
c.1955C>G (p.Ala652Gly)
c.2051C>G (p.Ala684Gly)
c.1997C>G (p.Ala666Gly)
c.1958C>G (p.Ala653Gly)
18g.33739479C>TCA402177344ASXL3c.2078C>T (p.Ala693Val)
c.2075C>T (p.Ala692Val)
c.*1199C>T (n.*1199C>T)
c.*1734C>T (n.*1734C>T)
c.2287C>T (n.2287C>T)
c.1907C>T (p.Ala636Val)
c.1955C>T (p.Ala652Val)
c.2051C>T (p.Ala684Val)
c.1997C>T (p.Ala666Val)
c.1958C>T (p.Ala653Val)
 dbSNP gnomAD v3 gnomAD v4
18g.33739480A>CCA503768892ASXL3c.2079A>C (p.Ala693=)
c.2076A>C (p.Ala692=)
c.*1200A>C (n.*1200A>C)
c.*1735A>C (n.*1735A>C)
c.2288A>C (n.2288A>C)
c.1908A>C (p.Ala636=)
c.1956A>C (p.Ala652=)
c.2052A>C (p.Ala684=)
c.1998A>C (p.Ala666=)
c.1959A>C (p.Ala653=)
18g.33739480A>GCA503768890ASXL3c.2079A>G (p.Ala693=)
c.2076A>G (p.Ala692=)
c.*1200A>G (n.*1200A>G)
c.*1735A>G (n.*1735A>G)
c.2288A>G (n.2288A>G)
c.1908A>G (p.Ala636=)
c.1956A>G (p.Ala652=)
c.2052A>G (p.Ala684=)
c.1998A>G (p.Ala666=)
c.1959A>G (p.Ala653=)
 gnomAD v4
18g.33739480A>TCA503768891ASXL3c.2079A>T (p.Ala693=)
c.2076A>T (p.Ala692=)
c.*1200A>T (n.*1200A>T)
c.*1735A>T (n.*1735A>T)
c.2288A>T (n.2288A>T)
c.1908A>T (p.Ala636=)
c.1956A>T (p.Ala652=)
c.2052A>T (p.Ala684=)
c.1998A>T (p.Ala666=)
c.1959A>T (p.Ala653=)
 gnomAD v4
18g.33739481T>ACA402177345ASXL3c.2080T>A (p.Ser694Thr)
c.2077T>A (p.Ser693Thr)
c.*1201T>A (n.*1201T>A)
c.*1736T>A (n.*1736T>A)
c.2289T>A (n.2289T>A)
c.1909T>A (p.Ser637Thr)
c.1957T>A (p.Ser653Thr)
c.2053T>A (p.Ser685Thr)
c.1999T>A (p.Ser667Thr)
c.1960T>A (p.Ser654Thr)
18g.33739481T>CCA402177346ASXL3c.2080T>C (p.Ser694Pro)
c.2077T>C (p.Ser693Pro)
c.*1201T>C (n.*1201T>C)
c.*1736T>C (n.*1736T>C)
c.2289T>C (n.2289T>C)
c.1909T>C (p.Ser637Pro)
c.1957T>C (p.Ser653Pro)
c.2053T>C (p.Ser685Pro)
c.1999T>C (p.Ser667Pro)
c.1960T>C (p.Ser654Pro)
 gnomAD v4
18g.33739481T>GCA402177347ASXL3c.2080T>G (p.Ser694Ala)
c.2077T>G (p.Ser693Ala)
c.*1201T>G (n.*1201T>G)
c.*1736T>G (n.*1736T>G)
c.2289T>G (n.2289T>G)
c.1909T>G (p.Ser637Ala)
c.1957T>G (p.Ser653Ala)
c.2053T>G (p.Ser685Ala)
c.1999T>G (p.Ser667Ala)
c.1960T>G (p.Ser654Ala)
18g.33739482C>ACA402177350ASXL3c.2081C>A (p.Ser694Tyr)
c.2078C>A (p.Ser693Tyr)
c.*1202C>A (n.*1202C>A)
c.*1737C>A (n.*1737C>A)
c.2290C>A (n.2290C>A)
c.1910C>A (p.Ser637Tyr)
c.1958C>A (p.Ser653Tyr)
c.2054C>A (p.Ser685Tyr)
c.2000C>A (p.Ser667Tyr)
c.1961C>A (p.Ser654Tyr)
18g.33739482C>GCA402177349ASXL3c.2081C>G (p.Ser694Cys)
c.2078C>G (p.Ser693Cys)
c.*1202C>G (n.*1202C>G)
c.*1737C>G (n.*1737C>G)
c.2290C>G (n.2290C>G)
c.1910C>G (p.Ser637Cys)
c.1958C>G (p.Ser653Cys)
c.2054C>G (p.Ser685Cys)
c.2000C>G (p.Ser667Cys)
c.1961C>G (p.Ser654Cys)
18g.33739482C>TCA402177348ASXL3c.2081C>T (p.Ser694Phe)
c.2078C>T (p.Ser693Phe)
c.*1202C>T (n.*1202C>T)
c.*1737C>T (n.*1737C>T)
c.2290C>T (n.2290C>T)
c.1910C>T (p.Ser637Phe)
c.1958C>T (p.Ser653Phe)
c.2054C>T (p.Ser685Phe)
c.2000C>T (p.Ser667Phe)
c.1961C>T (p.Ser654Phe)
18g.33739483T>ACA503768896ASXL3c.2082T>A (p.Ser694=)
c.2079T>A (p.Ser693=)
c.*1203T>A (n.*1203T>A)
c.*1738T>A (n.*1738T>A)
c.2291T>A (n.2291T>A)
c.1911T>A (p.Ser637=)
c.1959T>A (p.Ser653=)
c.2055T>A (p.Ser685=)
c.2001T>A (p.Ser667=)
c.1962T>A (p.Ser654=)
18g.33739483T>CCA503768897ASXL3c.2082T>C (p.Ser694=)
c.2079T>C (p.Ser693=)
c.*1203T>C (n.*1203T>C)
c.*1738T>C (n.*1738T>C)
c.2291T>C (n.2291T>C)
c.1911T>C (p.Ser637=)
c.1959T>C (p.Ser653=)
c.2055T>C (p.Ser685=)
c.2001T>C (p.Ser667=)
c.1962T>C (p.Ser654=)
 COSMIC COSMIC
18g.33739483T>GCA503768898ASXL3c.2082T>G (p.Ser694=)
c.2079T>G (p.Ser693=)
c.*1203T>G (n.*1203T>G)
c.*1738T>G (n.*1738T>G)
c.2291T>G (n.2291T>G)
c.1911T>G (p.Ser637=)
c.1959T>G (p.Ser653=)
c.2055T>G (p.Ser685=)
c.2001T>G (p.Ser667=)
c.1962T>G (p.Ser654=)
18g.33739484C>ACA402177351ASXL3c.2083C>A (p.Leu695Ile)
c.2080C>A (p.Leu694Ile)
c.*1204C>A (n.*1204C>A)
c.*1739C>A (n.*1739C>A)
c.2292C>A (n.2292C>A)
c.1912C>A (p.Leu638Ile)
c.1960C>A (p.Leu654Ile)
c.2056C>A (p.Leu686Ile)
c.2002C>A (p.Leu668Ile)
c.1963C>A (p.Leu655Ile)
18g.33739484C>GCA402177352ASXL3c.2083C>G (p.Leu695Val)
c.2080C>G (p.Leu694Val)
c.*1204C>G (n.*1204C>G)
c.*1739C>G (n.*1739C>G)
c.2292C>G (n.2292C>G)
c.1912C>G (p.Leu638Val)
c.1960C>G (p.Leu654Val)
c.2056C>G (p.Leu686Val)
c.2002C>G (p.Leu668Val)
c.1963C>G (p.Leu655Val)
 gnomAD v4
18g.33739484C>TCA402177353ASXL3c.2083C>T (p.Leu695Phe)
c.2080C>T (p.Leu694Phe)
c.*1204C>T (n.*1204C>T)
c.*1739C>T (n.*1739C>T)
c.2292C>T (n.2292C>T)
c.1912C>T (p.Leu638Phe)
c.1960C>T (p.Leu654Phe)
c.2056C>T (p.Leu686Phe)
c.2002C>T (p.Leu668Phe)
c.1963C>T (p.Leu655Phe)
18g.33739485T>ACA402177354ASXL3c.2084T>A (p.Leu695His)
c.2081T>A (p.Leu694His)
c.*1205T>A (n.*1205T>A)
c.*1740T>A (n.*1740T>A)
c.2293T>A (n.2293T>A)
c.1913T>A (p.Leu638His)
c.1961T>A (p.Leu654His)
c.2057T>A (p.Leu686His)
c.2003T>A (p.Leu668His)
c.1964T>A (p.Leu655His)
18g.33739485T>CCA402177355ASXL3c.2084T>C (p.Leu695Pro)
c.2081T>C (p.Leu694Pro)
c.*1205T>C (n.*1205T>C)
c.*1740T>C (n.*1740T>C)
c.2293T>C (n.2293T>C)
c.1913T>C (p.Leu638Pro)
c.1961T>C (p.Leu654Pro)
c.2057T>C (p.Leu686Pro)
c.2003T>C (p.Leu668Pro)
c.1964T>C (p.Leu655Pro)
18g.33739485T>GCA402177356ASXL3c.2084T>G (p.Leu695Arg)
c.2081T>G (p.Leu694Arg)
c.*1205T>G (n.*1205T>G)
c.*1740T>G (n.*1740T>G)
c.2293T>G (n.2293T>G)
c.1913T>G (p.Leu638Arg)
c.1961T>G (p.Leu654Arg)
c.2057T>G (p.Leu686Arg)
c.2003T>G (p.Leu668Arg)
c.1964T>G (p.Leu655Arg)
 gnomAD v4
18g.33739485T=CA2294856001ASXL3c.2084T= (p.Leu695=)
c.2081T= (p.Leu694=)
c.*1205T= (n.*1205T=)
c.*1740T= (n.*1740T=)
c.2293T= (n.2293T=)
c.1913T= (p.Leu638=)
c.1961T= (p.Leu654=)
c.2057T= (p.Leu686=)
c.2003T= (p.Leu668=)
c.1964T= (p.Leu655=)
18g.33739485_33739486insGGTTGCA2294856002ASXL3c.2084_2085insGGTTG (p.Met696ValfsTer8)
c.2081_2082insGGTTG (p.Met695ValfsTer8)
c.*1205_*1206insGGTTG (n.*1205_*1206insGGTTG)
c.*1740_*1741insGGTTG (n.*1740_*1741insGGTTG)
c.2293_2294insGGTTG (n.2293_2294insGGTTG)
c.1913_1914insGGTTG (p.Met639ValfsTer8)
c.1961_1962insGGTTG (p.Met655ValfsTer8)
c.2057_2058insGGTTG (p.Met687ValfsTer8)
c.2003_2004insGGTTG (p.Met669ValfsTer8)
c.1964_1965insGGTTG (p.Met656ValfsTer8)
 dbSNP
18g.33739486T>ACA503768902ASXL3c.2085T>A (p.Leu695=)
c.2082T>A (p.Leu694=)
c.*1206T>A (n.*1206T>A)
c.*1741T>A (n.*1741T>A)
c.2294T>A (n.2294T>A)
c.1914T>A (p.Leu638=)
c.1962T>A (p.Leu654=)
c.2058T>A (p.Leu686=)
c.2004T>A (p.Leu668=)
c.1965T>A (p.Leu655=)
18g.33739486T>CCA503768903ASXL3c.2085T>C (p.Leu695=)
c.2082T>C (p.Leu694=)
c.*1206T>C (n.*1206T>C)
c.*1741T>C (n.*1741T>C)
c.2294T>C (n.2294T>C)
c.1914T>C (p.Leu638=)
c.1962T>C (p.Leu654=)
c.2058T>C (p.Leu686=)
c.2004T>C (p.Leu668=)
c.1965T>C (p.Leu655=)
18g.33739486T>GCA503768904ASXL3c.2085T>G (p.Leu695=)
c.2082T>G (p.Leu694=)
c.*1206T>G (n.*1206T>G)
c.*1741T>G (n.*1741T>G)
c.2294T>G (n.2294T>G)
c.1914T>G (p.Leu638=)
c.1962T>G (p.Leu654=)
c.2058T>G (p.Leu686=)
c.2004T>G (p.Leu668=)
c.1965T>G (p.Leu655=)
18g.33739487A>CCA402177359ASXL3c.2086A>C (p.Met696Leu)
c.2083A>C (p.Met695Leu)
c.*1207A>C (n.*1207A>C)
c.*1742A>C (n.*1742A>C)
c.2295A>C (n.2295A>C)
c.1915A>C (p.Met639Leu)
c.1963A>C (p.Met655Leu)
c.2059A>C (p.Met687Leu)
c.2005A>C (p.Met669Leu)
c.1966A>C (p.Met656Leu)
18g.33739487A>GCA402177358ASXL3c.2086A>G (p.Met696Val)
c.2083A>G (p.Met695Val)
c.*1207A>G (n.*1207A>G)
c.*1742A>G (n.*1742A>G)
c.2295A>G (n.2295A>G)
c.1915A>G (p.Met639Val)
c.1963A>G (p.Met655Val)
c.2059A>G (p.Met687Val)
c.2005A>G (p.Met669Val)
c.1966A>G (p.Met656Val)
18g.33739487A>TCA402177357ASXL3c.2086A>T (p.Met696Leu)
c.2083A>T (p.Met695Leu)
c.*1207A>T (n.*1207A>T)
c.*1742A>T (n.*1742A>T)
c.2295A>T (n.2295A>T)
c.1915A>T (p.Met639Leu)
c.1963A>T (p.Met655Leu)
c.2059A>T (p.Met687Leu)
c.2005A>T (p.Met669Leu)
c.1966A>T (p.Met656Leu)
18g.33739488T>ACA402177360ASXL3c.2087T>A (p.Met696Lys)
c.2084T>A (p.Met695Lys)
c.*1208T>A (n.*1208T>A)
c.*1743T>A (n.*1743T>A)
c.2296T>A (n.2296T>A)
c.1916T>A (p.Met639Lys)
c.1964T>A (p.Met655Lys)
c.2060T>A (p.Met687Lys)
c.2006T>A (p.Met669Lys)
c.1967T>A (p.Met656Lys)
18g.33739488T>CCA402177361ASXL3c.2087T>C (p.Met696Thr)
c.2084T>C (p.Met695Thr)
c.*1208T>C (n.*1208T>C)
c.*1743T>C (n.*1743T>C)
c.2296T>C (n.2296T>C)
c.1916T>C (p.Met639Thr)
c.1964T>C (p.Met655Thr)
c.2060T>C (p.Met687Thr)
c.2006T>C (p.Met669Thr)
c.1967T>C (p.Met656Thr)
 dbSNP gnomAD v4
18g.33739488T>GCA402177362ASXL3c.2087T>G (p.Met696Arg)
c.2084T>G (p.Met695Arg)
c.*1208T>G (n.*1208T>G)
c.*1743T>G (n.*1743T>G)
c.2296T>G (n.2296T>G)
c.1916T>G (p.Met639Arg)
c.1964T>G (p.Met655Arg)
c.2060T>G (p.Met687Arg)
c.2006T>G (p.Met669Arg)
c.1967T>G (p.Met656Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.33739488T=CA2294856003ASXL3c.2087T= (p.Met696=)
c.2084T= (p.Met695=)
c.*1208T= (n.*1208T=)
c.*1743T= (n.*1743T=)
c.2296T= (n.2296T=)
c.1916T= (p.Met639=)
c.1964T= (p.Met655=)
c.2060T= (p.Met687=)
c.2006T= (p.Met669=)
c.1967T= (p.Met656=)
18g.33739489G>ACA402177363ASXL3c.2088G>A (p.Met696Ile)
c.2085G>A (p.Met695Ile)
c.*1209G>A (n.*1209G>A)
c.*1744G>A (n.*1744G>A)
c.2297G>A (n.2297G>A)
c.1917G>A (p.Met639Ile)
c.1965G>A (p.Met655Ile)
c.2061G>A (p.Met687Ile)
c.2007G>A (p.Met669Ile)
c.1968G>A (p.Met656Ile)
18g.33739489G>CCA402177364ASXL3c.2088G>C (p.Met696Ile)
c.2085G>C (p.Met695Ile)
c.*1209G>C (n.*1209G>C)
c.*1744G>C (n.*1744G>C)
c.2297G>C (n.2297G>C)
c.1917G>C (p.Met639Ile)
c.1965G>C (p.Met655Ile)
c.2061G>C (p.Met687Ile)
c.2007G>C (p.Met669Ile)
c.1968G>C (p.Met656Ile)
18g.33739489G>TCA402177365ASXL3c.2088G>T (p.Met696Ile)
c.2085G>T (p.Met695Ile)
c.*1209G>T (n.*1209G>T)
c.*1744G>T (n.*1744G>T)
c.2297G>T (n.2297G>T)
c.1917G>T (p.Met639Ile)
c.1965G>T (p.Met655Ile)
c.2061G>T (p.Met687Ile)
c.2007G>T (p.Met669Ile)
c.1968G>T (p.Met656Ile)
18g.33739490T>ACA402177366ASXL3c.2089T>A (p.Ser697Thr)
c.2086T>A (p.Ser696Thr)
c.*1210T>A (n.*1210T>A)
c.*1745T>A (n.*1745T>A)
c.2298T>A (n.2298T>A)
c.1918T>A (p.Ser640Thr)
c.1966T>A (p.Ser656Thr)
c.2062T>A (p.Ser688Thr)
c.2008T>A (p.Ser670Thr)
c.1969T>A (p.Ser657Thr)
18g.33739490T>CCA402177368ASXL3c.2089T>C (p.Ser697Pro)
c.2086T>C (p.Ser696Pro)
c.*1210T>C (n.*1210T>C)
c.*1745T>C (n.*1745T>C)
c.2298T>C (n.2298T>C)
c.1918T>C (p.Ser640Pro)
c.1966T>C (p.Ser656Pro)
c.2062T>C (p.Ser688Pro)
c.2008T>C (p.Ser670Pro)
c.1969T>C (p.Ser657Pro)
18g.33739490T>GCA402177367ASXL3c.2089T>G (p.Ser697Ala)
c.2086T>G (p.Ser696Ala)
c.*1210T>G (n.*1210T>G)
c.*1745T>G (n.*1745T>G)
c.2298T>G (n.2298T>G)
c.1918T>G (p.Ser640Ala)
c.1966T>G (p.Ser656Ala)
c.2062T>G (p.Ser688Ala)
c.2008T>G (p.Ser670Ala)
c.1969T>G (p.Ser657Ala)
 COSMIC COSMIC
18g.33739501_33739536delCA2573050943ASXL3c.2100_2135del (p.Leu701_Pro712del)
c.2097_2132del (p.Leu700_Pro711del)
c.*1221_*1256del (n.*1221_*1256del)
c.*1756_*1791del (n.*1756_*1791del)
c.2309_2344del (n.2309_2344del)
c.1929_1964del (p.Leu644_Pro655del)
c.1977_2012del (p.Leu660_Pro671del)
c.2073_2108del (p.Leu692_Pro703del)
c.2019_2054del (p.Leu674_Pro685del)
c.1980_2015del (p.Leu661_Pro672del)
 gnomAD v4
18g.33739491C>ACA402177369ASXL3c.2090C>A (p.Ser697Tyr)
c.2087C>A (p.Ser696Tyr)
c.*1211C>A (n.*1211C>A)
c.*1746C>A (n.*1746C>A)
c.2299C>A (n.2299C>A)
c.1919C>A (p.Ser640Tyr)
c.1967C>A (p.Ser656Tyr)
c.2063C>A (p.Ser688Tyr)
c.2009C>A (p.Ser670Tyr)
c.1970C>A (p.Ser657Tyr)
18g.33739491C>GCA402177370ASXL3c.2090C>G (p.Ser697Cys)
c.2087C>G (p.Ser696Cys)
c.*1211C>G (n.*1211C>G)
c.*1746C>G (n.*1746C>G)
c.2299C>G (n.2299C>G)
c.1919C>G (p.Ser640Cys)
c.1967C>G (p.Ser656Cys)
c.2063C>G (p.Ser688Cys)
c.2009C>G (p.Ser670Cys)
c.1970C>G (p.Ser657Cys)
18g.33739491C>TCA402177371ASXL3c.2090C>T (p.Ser697Phe)
c.2087C>T (p.Ser696Phe)
c.*1211C>T (n.*1211C>T)
c.*1746C>T (n.*1746C>T)
c.2299C>T (n.2299C>T)
c.1919C>T (p.Ser640Phe)
c.1967C>T (p.Ser656Phe)
c.2063C>T (p.Ser688Phe)
c.2009C>T (p.Ser670Phe)
c.1970C>T (p.Ser657Phe)
18g.33739492C>ACA503768909ASXL3c.2091C>A (p.Ser697=)
c.2088C>A (p.Ser696=)
c.*1212C>A (n.*1212C>A)
c.*1747C>A (n.*1747C>A)
c.2300C>A (n.2300C>A)
c.1920C>A (p.Ser640=)
c.1968C>A (p.Ser656=)
c.2064C>A (p.Ser688=)
c.2010C>A (p.Ser670=)
c.1971C>A (p.Ser657=)
18g.33739492C>GCA503768921ASXL3c.2091C>G (p.Ser697=)
c.2088C>G (p.Ser696=)
c.*1212C>G (n.*1212C>G)
c.*1747C>G (n.*1747C>G)
c.2300C>G (n.2300C>G)
c.1920C>G (p.Ser640=)
c.1968C>G (p.Ser656=)
c.2064C>G (p.Ser688=)
c.2010C>G (p.Ser670=)
c.1971C>G (p.Ser657=)
18g.33739492C>TCA503768923ASXL3c.2091C>T (p.Ser697=)
c.2088C>T (p.Ser696=)
c.*1212C>T (n.*1212C>T)
c.*1747C>T (n.*1747C>T)
c.2300C>T (n.2300C>T)
c.1920C>T (p.Ser640=)
c.1968C>T (p.Ser656=)
c.2064C>T (p.Ser688=)
c.2010C>T (p.Ser670=)
c.1971C>T (p.Ser657=)
18g.33739493A>CCA402177372ASXL3c.2092A>C (p.Asn698His)
c.2089A>C (p.Asn697His)
c.*1213A>C (n.*1213A>C)
c.*1748A>C (n.*1748A>C)
c.2301A>C (n.2301A>C)
c.1921A>C (p.Asn641His)
c.1969A>C (p.Asn657His)
c.2065A>C (p.Asn689His)
c.2011A>C (p.Asn671His)
c.1972A>C (p.Asn658His)
18g.33739493A>GCA402177373ASXL3c.2092A>G (p.Asn698Asp)
c.2089A>G (p.Asn697Asp)
c.*1213A>G (n.*1213A>G)
c.*1748A>G (n.*1748A>G)
c.2301A>G (n.2301A>G)
c.1921A>G (p.Asn641Asp)
c.1969A>G (p.Asn657Asp)
c.2065A>G (p.Asn689Asp)
c.2011A>G (p.Asn671Asp)
c.1972A>G (p.Asn658Asp)
18g.33739493A>TCA402177374ASXL3c.2092A>T (p.Asn698Tyr)
c.2089A>T (p.Asn697Tyr)
c.*1213A>T (n.*1213A>T)
c.*1748A>T (n.*1748A>T)
c.2301A>T (n.2301A>T)
c.1921A>T (p.Asn641Tyr)
c.1969A>T (p.Asn657Tyr)
c.2065A>T (p.Asn689Tyr)
c.2011A>T (p.Asn671Tyr)
c.1972A>T (p.Asn658Tyr)
18g.33739494A=CA2294856004ASXL3c.2093A= (p.Asn698=)
c.2090A= (p.Asn697=)
c.*1214A= (n.*1214A=)
c.*1749A= (n.*1749A=)
c.2302A= (n.2302A=)
c.1922A= (p.Asn641=)
c.1970A= (p.Asn657=)
c.2066A= (p.Asn689=)
c.2012A= (p.Asn671=)
c.1973A= (p.Asn658=)
18g.33739494A>CCA402177375ASXL3c.2093A>C (p.Asn698Thr)
c.2090A>C (p.Asn697Thr)
c.*1214A>C (n.*1214A>C)
c.*1749A>C (n.*1749A>C)
c.2302A>C (n.2302A>C)
c.1922A>C (p.Asn641Thr)
c.1970A>C (p.Asn657Thr)
c.2066A>C (p.Asn689Thr)
c.2012A>C (p.Asn671Thr)
c.1973A>C (p.Asn658Thr)
18g.33739494A>GCA8933863ASXL3c.2093A>G (p.Asn698Ser)
c.2090A>G (p.Asn697Ser)
c.*1214A>G (n.*1214A>G)
c.*1749A>G (n.*1749A>G)
c.2302A>G (n.2302A>G)
c.1922A>G (p.Asn641Ser)
c.1970A>G (p.Asn657Ser)
c.2066A>G (p.Asn689Ser)
c.2012A>G (p.Asn671Ser)
c.1973A>G (p.Asn658Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739494A>TCA402177376ASXL3c.2093A>T (p.Asn698Ile)
c.2090A>T (p.Asn697Ile)
c.*1214A>T (n.*1214A>T)
c.*1749A>T (n.*1749A>T)
c.2302A>T (n.2302A>T)
c.1922A>T (p.Asn641Ile)
c.1970A>T (p.Asn657Ile)
c.2066A>T (p.Asn689Ile)
c.2012A>T (p.Asn671Ile)
c.1973A>T (p.Asn658Ile)

Number of alleles fetched