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.33739346_33739348delCA2580612978ASXL3c.1945_1947del (p.Thr649del)
c.1942_1944del (p.Thr648del)
c.*1066_*1068del (n.*1066_*1068del)
c.*1601_*1603del (n.*1601_*1603del)
c.2154_2156del (n.2154_2156del)
c.1774_1776del (p.Thr592del)
c.1822_1824del (p.Thr608del)
c.1918_1920del (p.Thr640del)
c.1864_1866del (p.Thr622del)
c.1825_1827del (p.Thr609del)
ClinVar
18g.33739348A>CCA503768973ASXL3c.1947A>C (p.Thr649=)
c.1944A>C (p.Thr648=)
c.*1068A>C (n.*1068A>C)
c.*1603A>C (n.*1603A>C)
c.2156A>C (n.2156A>C)
c.1776A>C (p.Thr592=)
c.1824A>C (p.Thr608=)
c.1920A>C (p.Thr640=)
c.1866A>C (p.Thr622=)
c.1827A>C (p.Thr609=)
18g.33739348A>GCA503768975ASXL3c.1947A>G (p.Thr649=)
c.1944A>G (p.Thr648=)
c.*1068A>G (n.*1068A>G)
c.*1603A>G (n.*1603A>G)
c.2156A>G (n.2156A>G)
c.1776A>G (p.Thr592=)
c.1824A>G (p.Thr608=)
c.1920A>G (p.Thr640=)
c.1866A>G (p.Thr622=)
c.1827A>G (p.Thr609=)
18g.33739348A>TCA503768976ASXL3c.1947A>T (p.Thr649=)
c.1944A>T (p.Thr648=)
c.*1068A>T (n.*1068A>T)
c.*1603A>T (n.*1603A>T)
c.2156A>T (n.2156A>T)
c.1776A>T (p.Thr592=)
c.1824A>T (p.Thr608=)
c.1920A>T (p.Thr640=)
c.1866A>T (p.Thr622=)
c.1827A>T (p.Thr609=)
18g.33739349T>ACA297787140ASXL3c.1948T>A (p.Phe650Ile)
c.1945T>A (p.Phe649Ile)
c.*1069T>A (n.*1069T>A)
c.*1604T>A (n.*1604T>A)
c.2157T>A (n.2157T>A)
c.1777T>A (p.Phe593Ile)
c.1825T>A (p.Phe609Ile)
c.1921T>A (p.Phe641Ile)
c.1867T>A (p.Phe623Ile)
c.1828T>A (p.Phe610Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739349T>CCA402176928ASXL3c.1948T>C (p.Phe650Leu)
c.1945T>C (p.Phe649Leu)
c.*1069T>C (n.*1069T>C)
c.*1604T>C (n.*1604T>C)
c.2157T>C (n.2157T>C)
c.1777T>C (p.Phe593Leu)
c.1825T>C (p.Phe609Leu)
c.1921T>C (p.Phe641Leu)
c.1867T>C (p.Phe623Leu)
c.1828T>C (p.Phe610Leu)
gnomAD v4
18g.33739349T>GCA402176929ASXL3c.1948T>G (p.Phe650Val)
c.1945T>G (p.Phe649Val)
c.*1069T>G (n.*1069T>G)
c.*1604T>G (n.*1604T>G)
c.2157T>G (n.2157T>G)
c.1777T>G (p.Phe593Val)
c.1825T>G (p.Phe609Val)
c.1921T>G (p.Phe641Val)
c.1867T>G (p.Phe623Val)
c.1828T>G (p.Phe610Val)
dbSNP
18g.33739349T=CA2294855940ASXL3c.1948T= (p.Phe650=)
c.1945T= (p.Phe649=)
c.*1069T= (n.*1069T=)
c.*1604T= (n.*1604T=)
c.2157T= (n.2157T=)
c.1777T= (p.Phe593=)
c.1825T= (p.Phe609=)
c.1921T= (p.Phe641=)
c.1867T= (p.Phe623=)
c.1828T= (p.Phe610=)
18g.33739350T>ACA402176930ASXL3c.1949T>A (p.Phe650Tyr)
c.1946T>A (p.Phe649Tyr)
c.*1070T>A (n.*1070T>A)
c.*1605T>A (n.*1605T>A)
c.2158T>A (n.2158T>A)
c.1778T>A (p.Phe593Tyr)
c.1826T>A (p.Phe609Tyr)
c.1922T>A (p.Phe641Tyr)
c.1868T>A (p.Phe623Tyr)
c.1829T>A (p.Phe610Tyr)
18g.33739350T>CCA402176932ASXL3c.1949T>C (p.Phe650Ser)
c.1946T>C (p.Phe649Ser)
c.*1070T>C (n.*1070T>C)
c.*1605T>C (n.*1605T>C)
c.2158T>C (n.2158T>C)
c.1778T>C (p.Phe593Ser)
c.1826T>C (p.Phe609Ser)
c.1922T>C (p.Phe641Ser)
c.1868T>C (p.Phe623Ser)
c.1829T>C (p.Phe610Ser)
18g.33739350T>GCA402176931ASXL3c.1949T>G (p.Phe650Cys)
c.1946T>G (p.Phe649Cys)
c.*1070T>G (n.*1070T>G)
c.*1605T>G (n.*1605T>G)
c.2158T>G (n.2158T>G)
c.1778T>G (p.Phe593Cys)
c.1826T>G (p.Phe609Cys)
c.1922T>G (p.Phe641Cys)
c.1868T>G (p.Phe623Cys)
c.1829T>G (p.Phe610Cys)
18g.33739351T>ACA402176933ASXL3c.1950T>A (p.Phe650Leu)
c.1947T>A (p.Phe649Leu)
c.*1071T>A (n.*1071T>A)
c.*1606T>A (n.*1606T>A)
c.2159T>A (n.2159T>A)
c.1779T>A (p.Phe593Leu)
c.1827T>A (p.Phe609Leu)
c.1923T>A (p.Phe641Leu)
c.1869T>A (p.Phe623Leu)
c.1830T>A (p.Phe610Leu)
18g.33739351T>CCA503768638ASXL3c.1950T>C (p.Phe650=)
c.1947T>C (p.Phe649=)
c.*1071T>C (n.*1071T>C)
c.*1606T>C (n.*1606T>C)
c.2159T>C (n.2159T>C)
c.1779T>C (p.Phe593=)
c.1827T>C (p.Phe609=)
c.1923T>C (p.Phe641=)
c.1869T>C (p.Phe623=)
c.1830T>C (p.Phe610=)
18g.33739351T>GCA402176934ASXL3c.1950T>G (p.Phe650Leu)
c.1947T>G (p.Phe649Leu)
c.*1071T>G (n.*1071T>G)
c.*1606T>G (n.*1606T>G)
c.2159T>G (n.2159T>G)
c.1779T>G (p.Phe593Leu)
c.1827T>G (p.Phe609Leu)
c.1923T>G (p.Phe641Leu)
c.1869T>G (p.Phe623Leu)
c.1830T>G (p.Phe610Leu)
18g.33739352T>ACA402176935ASXL3c.1951T>A (p.Cys651Ser)
c.1948T>A (p.Cys650Ser)
c.*1072T>A (n.*1072T>A)
c.*1607T>A (n.*1607T>A)
c.2160T>A (n.2160T>A)
c.1780T>A (p.Cys594Ser)
c.1828T>A (p.Cys610Ser)
c.1924T>A (p.Cys642Ser)
c.1870T>A (p.Cys624Ser)
c.1831T>A (p.Cys611Ser)
18g.33739352T>CCA402176937ASXL3c.1951T>C (p.Cys651Arg)
c.1948T>C (p.Cys650Arg)
c.*1072T>C (n.*1072T>C)
c.*1607T>C (n.*1607T>C)
c.2160T>C (n.2160T>C)
c.1780T>C (p.Cys594Arg)
c.1828T>C (p.Cys610Arg)
c.1924T>C (p.Cys642Arg)
c.1870T>C (p.Cys624Arg)
c.1831T>C (p.Cys611Arg)
18g.33739352T>GCA402176936ASXL3c.1951T>G (p.Cys651Gly)
c.1948T>G (p.Cys650Gly)
c.*1072T>G (n.*1072T>G)
c.*1607T>G (n.*1607T>G)
c.2160T>G (n.2160T>G)
c.1780T>G (p.Cys594Gly)
c.1828T>G (p.Cys610Gly)
c.1924T>G (p.Cys642Gly)
c.1870T>G (p.Cys624Gly)
c.1831T>G (p.Cys611Gly)
18g.33739353G>ACA402176938ASXL3c.1952G>A (p.Cys651Tyr)
c.1949G>A (p.Cys650Tyr)
c.*1073G>A (n.*1073G>A)
c.*1608G>A (n.*1608G>A)
c.2161G>A (n.2161G>A)
c.1781G>A (p.Cys594Tyr)
c.1829G>A (p.Cys610Tyr)
c.1925G>A (p.Cys642Tyr)
c.1871G>A (p.Cys624Tyr)
c.1832G>A (p.Cys611Tyr)
18g.33739353G>CCA402176940ASXL3c.1952G>C (p.Cys651Ser)
c.1949G>C (p.Cys650Ser)
c.*1073G>C (n.*1073G>C)
c.*1608G>C (n.*1608G>C)
c.2161G>C (n.2161G>C)
c.1781G>C (p.Cys594Ser)
c.1829G>C (p.Cys610Ser)
c.1925G>C (p.Cys642Ser)
c.1871G>C (p.Cys624Ser)
c.1832G>C (p.Cys611Ser)
18g.33739353G=CA2294855941ASXL3c.1952G= (p.Cys651=)
c.1949G= (p.Cys650=)
c.*1073G= (n.*1073G=)
c.*1608G= (n.*1608G=)
c.2161G= (n.2161G=)
c.1781G= (p.Cys594=)
c.1829G= (p.Cys610=)
c.1925G= (p.Cys642=)
c.1871G= (p.Cys624=)
c.1832G= (p.Cys611=)
18g.33739353G>TCA402176939ASXL3c.1952G>T (p.Cys651Phe)
c.1949G>T (p.Cys650Phe)
c.*1073G>T (n.*1073G>T)
c.*1608G>T (n.*1608G>T)
c.2161G>T (n.2161G>T)
c.1781G>T (p.Cys594Phe)
c.1829G>T (p.Cys610Phe)
c.1925G>T (p.Cys642Phe)
c.1871G>T (p.Cys624Phe)
c.1832G>T (p.Cys611Phe)
dbSNP gnomAD v2 gnomAD v4
18g.33739354T>ACA402176941ASXL3c.1953T>A (p.Cys651Ter)
c.1950T>A (p.Cys650Ter)
c.*1074T>A (n.*1074T>A)
c.*1609T>A (n.*1609T>A)
c.2162T>A (n.2162T>A)
c.1782T>A (p.Cys594Ter)
c.1830T>A (p.Cys610Ter)
c.1926T>A (p.Cys642Ter)
c.1872T>A (p.Cys624Ter)
c.1833T>A (p.Cys611Ter)
18g.33739354T>CCA503768644ASXL3c.1953T>C (p.Cys651=)
c.1950T>C (p.Cys650=)
c.*1074T>C (n.*1074T>C)
c.*1609T>C (n.*1609T>C)
c.2162T>C (n.2162T>C)
c.1782T>C (p.Cys594=)
c.1830T>C (p.Cys610=)
c.1926T>C (p.Cys642=)
c.1872T>C (p.Cys624=)
c.1833T>C (p.Cys611=)
18g.33739354T>GCA402176942ASXL3c.1953T>G (p.Cys651Trp)
c.1950T>G (p.Cys650Trp)
c.*1074T>G (n.*1074T>G)
c.*1609T>G (n.*1609T>G)
c.2162T>G (n.2162T>G)
c.1782T>G (p.Cys594Trp)
c.1830T>G (p.Cys610Trp)
c.1926T>G (p.Cys642Trp)
c.1872T>G (p.Cys624Trp)
c.1833T>G (p.Cys611Trp)
18g.33739355T>ACA402176943ASXL3c.1954T>A (p.Ser652Thr)
c.1951T>A (p.Ser651Thr)
c.*1075T>A (n.*1075T>A)
c.*1610T>A (n.*1610T>A)
c.2163T>A (n.2163T>A)
c.1783T>A (p.Ser595Thr)
c.1831T>A (p.Ser611Thr)
c.1927T>A (p.Ser643Thr)
c.1873T>A (p.Ser625Thr)
c.1834T>A (p.Ser612Thr)
18g.33739355T>CCA402176944ASXL3c.1954T>C (p.Ser652Pro)
c.1951T>C (p.Ser651Pro)
c.*1075T>C (n.*1075T>C)
c.*1610T>C (n.*1610T>C)
c.2163T>C (n.2163T>C)
c.1783T>C (p.Ser595Pro)
c.1831T>C (p.Ser611Pro)
c.1927T>C (p.Ser643Pro)
c.1873T>C (p.Ser625Pro)
c.1834T>C (p.Ser612Pro)
18g.33739355T>GCA402176945ASXL3c.1954T>G (p.Ser652Ala)
c.1951T>G (p.Ser651Ala)
c.*1075T>G (n.*1075T>G)
c.*1610T>G (n.*1610T>G)
c.2163T>G (n.2163T>G)
c.1783T>G (p.Ser595Ala)
c.1831T>G (p.Ser611Ala)
c.1927T>G (p.Ser643Ala)
c.1873T>G (p.Ser625Ala)
c.1834T>G (p.Ser612Ala)
18g.33739356C>ACA402176946ASXL3c.1955C>A (p.Ser652Tyr)
c.1952C>A (p.Ser651Tyr)
c.*1076C>A (n.*1076C>A)
c.*1611C>A (n.*1611C>A)
c.2164C>A (n.2164C>A)
c.1784C>A (p.Ser595Tyr)
c.1832C>A (p.Ser611Tyr)
c.1928C>A (p.Ser643Tyr)
c.1874C>A (p.Ser625Tyr)
c.1835C>A (p.Ser612Tyr)
18g.33739356C=CA2294855942ASXL3c.1955C= (p.Ser652=)
c.1952C= (p.Ser651=)
c.*1076C= (n.*1076C=)
c.*1611C= (n.*1611C=)
c.2164C= (n.2164C=)
c.1784C= (p.Ser595=)
c.1832C= (p.Ser611=)
c.1928C= (p.Ser643=)
c.1874C= (p.Ser625=)
c.1835C= (p.Ser612=)
18g.33739356C>GCA402176947ASXL3c.1955C>G (p.Ser652Cys)
c.1952C>G (p.Ser651Cys)
c.*1076C>G (n.*1076C>G)
c.*1611C>G (n.*1611C>G)
c.2164C>G (n.2164C>G)
c.1784C>G (p.Ser595Cys)
c.1832C>G (p.Ser611Cys)
c.1928C>G (p.Ser643Cys)
c.1874C>G (p.Ser625Cys)
c.1835C>G (p.Ser612Cys)
dbSNP gnomAD v2 gnomAD v4
18g.33739356C>TCA402176948ASXL3c.1955C>T (p.Ser652Phe)
c.1952C>T (p.Ser651Phe)
c.*1076C>T (n.*1076C>T)
c.*1611C>T (n.*1611C>T)
c.2164C>T (n.2164C>T)
c.1784C>T (p.Ser595Phe)
c.1832C>T (p.Ser611Phe)
c.1928C>T (p.Ser643Phe)
c.1874C>T (p.Ser625Phe)
c.1835C>T (p.Ser612Phe)
dbSNP
18g.33739357T>ACA503768651ASXL3c.1956T>A (p.Ser652=)
c.1953T>A (p.Ser651=)
c.*1077T>A (n.*1077T>A)
c.*1612T>A (n.*1612T>A)
c.2165T>A (n.2165T>A)
c.1785T>A (p.Ser595=)
c.1833T>A (p.Ser611=)
c.1929T>A (p.Ser643=)
c.1875T>A (p.Ser625=)
c.1836T>A (p.Ser612=)
18g.33739357T>CCA503768652ASXL3c.1956T>C (p.Ser652=)
c.1953T>C (p.Ser651=)
c.*1077T>C (n.*1077T>C)
c.*1612T>C (n.*1612T>C)
c.2165T>C (n.2165T>C)
c.1785T>C (p.Ser595=)
c.1833T>C (p.Ser611=)
c.1929T>C (p.Ser643=)
c.1875T>C (p.Ser625=)
c.1836T>C (p.Ser612=)
18g.33739357T>GCA503768654ASXL3c.1956T>G (p.Ser652=)
c.1953T>G (p.Ser651=)
c.*1077T>G (n.*1077T>G)
c.*1612T>G (n.*1612T>G)
c.2165T>G (n.2165T>G)
c.1785T>G (p.Ser595=)
c.1833T>G (p.Ser611=)
c.1929T>G (p.Ser643=)
c.1875T>G (p.Ser625=)
c.1836T>G (p.Ser612=)
18g.33739358G>ACA402176949ASXL3c.1957G>A (p.Glu653Lys)
c.1954G>A (p.Glu652Lys)
c.*1078G>A (n.*1078G>A)
c.*1613G>A (n.*1613G>A)
c.2166G>A (n.2166G>A)
c.1786G>A (p.Glu596Lys)
c.1834G>A (p.Glu612Lys)
c.1930G>A (p.Glu644Lys)
c.1876G>A (p.Glu626Lys)
c.1837G>A (p.Glu613Lys)
18g.33739358G>CCA402176950ASXL3c.1957G>C (p.Glu653Gln)
c.1954G>C (p.Glu652Gln)
c.*1078G>C (n.*1078G>C)
c.*1613G>C (n.*1613G>C)
c.2166G>C (n.2166G>C)
c.1786G>C (p.Glu596Gln)
c.1834G>C (p.Glu612Gln)
c.1930G>C (p.Glu644Gln)
c.1876G>C (p.Glu626Gln)
c.1837G>C (p.Glu613Gln)
18g.33739358G>TCA402176951ASXL3c.1957G>T (p.Glu653Ter)
c.1954G>T (p.Glu652Ter)
c.*1078G>T (n.*1078G>T)
c.*1613G>T (n.*1613G>T)
c.2166G>T (n.2166G>T)
c.1786G>T (p.Glu596Ter)
c.1834G>T (p.Glu612Ter)
c.1930G>T (p.Glu644Ter)
c.1876G>T (p.Glu626Ter)
c.1837G>T (p.Glu613Ter)
18g.33739359A>CCA402176954ASXL3c.1958A>C (p.Glu653Ala)
c.1955A>C (p.Glu652Ala)
c.*1079A>C (n.*1079A>C)
c.*1614A>C (n.*1614A>C)
c.2167A>C (n.2167A>C)
c.1787A>C (p.Glu596Ala)
c.1835A>C (p.Glu612Ala)
c.1931A>C (p.Glu644Ala)
c.1877A>C (p.Glu626Ala)
c.1838A>C (p.Glu613Ala)
18g.33739359A>GCA402176953ASXL3c.1958A>G (p.Glu653Gly)
c.1955A>G (p.Glu652Gly)
c.*1079A>G (n.*1079A>G)
c.*1614A>G (n.*1614A>G)
c.2167A>G (n.2167A>G)
c.1787A>G (p.Glu596Gly)
c.1835A>G (p.Glu612Gly)
c.1931A>G (p.Glu644Gly)
c.1877A>G (p.Glu626Gly)
c.1838A>G (p.Glu613Gly)
18g.33739359A>TCA402176952ASXL3c.1958A>T (p.Glu653Val)
c.1955A>T (p.Glu652Val)
c.*1079A>T (n.*1079A>T)
c.*1614A>T (n.*1614A>T)
c.2167A>T (n.2167A>T)
c.1787A>T (p.Glu596Val)
c.1835A>T (p.Glu612Val)
c.1931A>T (p.Glu644Val)
c.1877A>T (p.Glu626Val)
c.1838A>T (p.Glu613Val)
18g.33739360G>ACA503768658ASXL3c.1959G>A (p.Glu653=)
c.1956G>A (p.Glu652=)
c.*1080G>A (n.*1080G>A)
c.*1615G>A (n.*1615G>A)
c.2168G>A (n.2168G>A)
c.1788G>A (p.Glu596=)
c.1836G>A (p.Glu612=)
c.1932G>A (p.Glu644=)
c.1878G>A (p.Glu626=)
c.1839G>A (p.Glu613=)
dbSNP gnomAD v3 gnomAD v4
18g.33739360G>CCA402176955ASXL3c.1959G>C (p.Glu653Asp)
c.1956G>C (p.Glu652Asp)
c.*1080G>C (n.*1080G>C)
c.*1615G>C (n.*1615G>C)
c.2168G>C (n.2168G>C)
c.1788G>C (p.Glu596Asp)
c.1836G>C (p.Glu612Asp)
c.1932G>C (p.Glu644Asp)
c.1878G>C (p.Glu626Asp)
c.1839G>C (p.Glu613Asp)
dbSNP
18g.33739360G=CA2294855943ASXL3c.1959G= (p.Glu653=)
c.1956G= (p.Glu652=)
c.*1080G= (n.*1080G=)
c.*1615G= (n.*1615G=)
c.2168G= (n.2168G=)
c.1788G= (p.Glu596=)
c.1836G= (p.Glu612=)
c.1932G= (p.Glu644=)
c.1878G= (p.Glu626=)
c.1839G= (p.Glu613=)
18g.33739360G>TCA402176956ASXL3c.1959G>T (p.Glu653Asp)
c.1956G>T (p.Glu652Asp)
c.*1080G>T (n.*1080G>T)
c.*1615G>T (n.*1615G>T)
c.2168G>T (n.2168G>T)
c.1788G>T (p.Glu596Asp)
c.1836G>T (p.Glu612Asp)
c.1932G>T (p.Glu644Asp)
c.1878G>T (p.Glu626Asp)
c.1839G>T (p.Glu613Asp)
COSMIC COSMIC
18g.33739361G>ACA8933842ASXL3c.1960G>A (p.Val654Ile)
c.1957G>A (p.Val653Ile)
c.*1081G>A (n.*1081G>A)
c.*1616G>A (n.*1616G>A)
c.2169G>A (n.2169G>A)
c.1789G>A (p.Val597Ile)
c.1837G>A (p.Val613Ile)
c.1933G>A (p.Val645Ile)
c.1879G>A (p.Val627Ile)
c.1840G>A (p.Val614Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739361G>CCA402176957ASXL3c.1960G>C (p.Val654Leu)
c.1957G>C (p.Val653Leu)
c.*1081G>C (n.*1081G>C)
c.*1616G>C (n.*1616G>C)
c.2169G>C (n.2169G>C)
c.1789G>C (p.Val597Leu)
c.1837G>C (p.Val613Leu)
c.1933G>C (p.Val645Leu)
c.1879G>C (p.Val627Leu)
c.1840G>C (p.Val614Leu)
18g.33739361G=CA2294855944ASXL3c.1960G= (p.Val654=)
c.1957G= (p.Val653=)
c.*1081G= (n.*1081G=)
c.*1616G= (n.*1616G=)
c.2169G= (n.2169G=)
c.1789G= (p.Val597=)
c.1837G= (p.Val613=)
c.1933G= (p.Val645=)
c.1879G= (p.Val627=)
c.1840G= (p.Val614=)
18g.33739361G>TCA402176958ASXL3c.1960G>T (p.Val654Leu)
c.1957G>T (p.Val653Leu)
c.*1081G>T (n.*1081G>T)
c.*1616G>T (n.*1616G>T)
c.2169G>T (n.2169G>T)
c.1789G>T (p.Val597Leu)
c.1837G>T (p.Val613Leu)
c.1933G>T (p.Val645Leu)
c.1879G>T (p.Val627Leu)
c.1840G>T (p.Val614Leu)
gnomAD v4
18g.33739362T>ACA402176959ASXL3c.1961T>A (p.Val654Glu)
c.1958T>A (p.Val653Glu)
c.*1082T>A (n.*1082T>A)
c.*1617T>A (n.*1617T>A)
c.2170T>A (n.2170T>A)
c.1790T>A (p.Val597Glu)
c.1838T>A (p.Val613Glu)
c.1934T>A (p.Val645Glu)
c.1880T>A (p.Val627Glu)
c.1841T>A (p.Val614Glu)
18g.33739362T>CCA402176960ASXL3c.1961T>C (p.Val654Ala)
c.1958T>C (p.Val653Ala)
c.*1082T>C (n.*1082T>C)
c.*1617T>C (n.*1617T>C)
c.2170T>C (n.2170T>C)
c.1790T>C (p.Val597Ala)
c.1838T>C (p.Val613Ala)
c.1934T>C (p.Val645Ala)
c.1880T>C (p.Val627Ala)
c.1841T>C (p.Val614Ala)
18g.33739362T>GCA402176961ASXL3c.1961T>G (p.Val654Gly)
c.1958T>G (p.Val653Gly)
c.*1082T>G (n.*1082T>G)
c.*1617T>G (n.*1617T>G)
c.2170T>G (n.2170T>G)
c.1790T>G (p.Val597Gly)
c.1838T>G (p.Val613Gly)
c.1934T>G (p.Val645Gly)
c.1880T>G (p.Val627Gly)
c.1841T>G (p.Val614Gly)
18g.33739363A>CCA503768663ASXL3c.1962A>C (p.Val654=)
c.1959A>C (p.Val653=)
c.*1083A>C (n.*1083A>C)
c.*1618A>C (n.*1618A>C)
c.2171A>C (n.2171A>C)
c.1791A>C (p.Val597=)
c.1839A>C (p.Val613=)
c.1935A>C (p.Val645=)
c.1881A>C (p.Val627=)
c.1842A>C (p.Val614=)
18g.33739363A>GCA503768665ASXL3c.1962A>G (p.Val654=)
c.1959A>G (p.Val653=)
c.*1083A>G (n.*1083A>G)
c.*1618A>G (n.*1618A>G)
c.2171A>G (n.2171A>G)
c.1791A>G (p.Val597=)
c.1839A>G (p.Val613=)
c.1935A>G (p.Val645=)
c.1881A>G (p.Val627=)
c.1842A>G (p.Val614=)
18g.33739363A>TCA503768667ASXL3c.1962A>T (p.Val654=)
c.1959A>T (p.Val653=)
c.*1083A>T (n.*1083A>T)
c.*1618A>T (n.*1618A>T)
c.2171A>T (n.2171A>T)
c.1791A>T (p.Val597=)
c.1839A>T (p.Val613=)
c.1935A>T (p.Val645=)
c.1881A>T (p.Val627=)
c.1842A>T (p.Val614=)
18g.33739364T>ACA8933843ASXL3c.1963T>A (p.Ser655Thr)
c.1960T>A (p.Ser654Thr)
c.*1084T>A (n.*1084T>A)
c.*1619T>A (n.*1619T>A)
c.2172T>A (n.2172T>A)
c.1792T>A (p.Ser598Thr)
c.1840T>A (p.Ser614Thr)
c.1936T>A (p.Ser646Thr)
c.1882T>A (p.Ser628Thr)
c.1843T>A (p.Ser615Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739364T>CCA402176962ASXL3c.1963T>C (p.Ser655Pro)
c.1960T>C (p.Ser654Pro)
c.*1084T>C (n.*1084T>C)
c.*1619T>C (n.*1619T>C)
c.2172T>C (n.2172T>C)
c.1792T>C (p.Ser598Pro)
c.1840T>C (p.Ser614Pro)
c.1936T>C (p.Ser646Pro)
c.1882T>C (p.Ser628Pro)
c.1843T>C (p.Ser615Pro)
18g.33739364T>GCA402176963ASXL3c.1963T>G (p.Ser655Ala)
c.1960T>G (p.Ser654Ala)
c.*1084T>G (n.*1084T>G)
c.*1619T>G (n.*1619T>G)
c.2172T>G (n.2172T>G)
c.1792T>G (p.Ser598Ala)
c.1840T>G (p.Ser614Ala)
c.1936T>G (p.Ser646Ala)
c.1882T>G (p.Ser628Ala)
c.1843T>G (p.Ser615Ala)
18g.33739364T=CA2294855945ASXL3c.1963T= (p.Ser655=)
c.1960T= (p.Ser654=)
c.*1084T= (n.*1084T=)
c.*1619T= (n.*1619T=)
c.2172T= (n.2172T=)
c.1792T= (p.Ser598=)
c.1840T= (p.Ser614=)
c.1936T= (p.Ser646=)
c.1882T= (p.Ser628=)
c.1843T= (p.Ser615=)
18g.33739365C>ACA402176966ASXL3c.1964C>A (p.Ser655Tyr)
c.1961C>A (p.Ser654Tyr)
c.*1085C>A (n.*1085C>A)
c.*1620C>A (n.*1620C>A)
c.2173C>A (n.2173C>A)
c.1793C>A (p.Ser598Tyr)
c.1841C>A (p.Ser614Tyr)
c.1937C>A (p.Ser646Tyr)
c.1883C>A (p.Ser628Tyr)
c.1844C>A (p.Ser615Tyr)
18g.33739365C>GCA402176965ASXL3c.1964C>G (p.Ser655Cys)
c.1961C>G (p.Ser654Cys)
c.*1085C>G (n.*1085C>G)
c.*1620C>G (n.*1620C>G)
c.2173C>G (n.2173C>G)
c.1793C>G (p.Ser598Cys)
c.1841C>G (p.Ser614Cys)
c.1937C>G (p.Ser646Cys)
c.1883C>G (p.Ser628Cys)
c.1844C>G (p.Ser615Cys)
18g.33739365C>TCA402176964ASXL3c.1964C>T (p.Ser655Phe)
c.1961C>T (p.Ser654Phe)
c.*1085C>T (n.*1085C>T)
c.*1620C>T (n.*1620C>T)
c.2173C>T (n.2173C>T)
c.1793C>T (p.Ser598Phe)
c.1841C>T (p.Ser614Phe)
c.1937C>T (p.Ser646Phe)
c.1883C>T (p.Ser628Phe)
c.1844C>T (p.Ser615Phe)
18g.33739365dupCA16044280ASXL3c.1964dup (p.Ser656Ter)
c.1961dup (p.Ser655Ter)
c.*1085dup (n.*1085dup)
c.*1620dup (n.*1620dup)
c.2173dup (n.2173dup)
c.1793dup (p.Ser599Ter)
c.1841dup (p.Ser615Ter)
c.1937dup (p.Ser647Ter)
c.1883dup (p.Ser629Ter)
c.1844dup (p.Ser616Ter)
ClinVar dbSNP
18g.33739365_33739366insACA2573332498ASXL3c.1964_1965insA (p.Ser656Ter)
c.1961_1962insA (p.Ser655Ter)
c.*1085_*1086insA (n.*1085_*1086insA)
c.*1620_*1621insA (n.*1620_*1621insA)
c.2173_2174insA (n.2173_2174insA)
c.1793_1794insA (p.Ser599Ter)
c.1841_1842insA (p.Ser615Ter)
c.1937_1938insA (p.Ser647Ter)
c.1883_1884insA (p.Ser629Ter)
c.1844_1845insA (p.Ser616Ter)
ClinVar
18g.33739366T>ACA503768671ASXL3c.1965T>A (p.Ser655=)
c.1962T>A (p.Ser654=)
c.*1086T>A (n.*1086T>A)
c.*1621T>A (n.*1621T>A)
c.2174T>A (n.2174T>A)
c.1794T>A (p.Ser598=)
c.1842T>A (p.Ser614=)
c.1938T>A (p.Ser646=)
c.1884T>A (p.Ser628=)
c.1845T>A (p.Ser615=)
18g.33739366T>CCA503768672ASXL3c.1965T>C (p.Ser655=)
c.1962T>C (p.Ser654=)
c.*1086T>C (n.*1086T>C)
c.*1621T>C (n.*1621T>C)
c.2174T>C (n.2174T>C)
c.1794T>C (p.Ser598=)
c.1842T>C (p.Ser614=)
c.1938T>C (p.Ser646=)
c.1884T>C (p.Ser628=)
c.1845T>C (p.Ser615=)
dbSNP gnomAD v4
18g.33739366T>GCA503768673ASXL3c.1965T>G (p.Ser655=)
c.1962T>G (p.Ser654=)
c.*1086T>G (n.*1086T>G)
c.*1621T>G (n.*1621T>G)
c.2174T>G (n.2174T>G)
c.1794T>G (p.Ser598=)
c.1842T>G (p.Ser614=)
c.1938T>G (p.Ser646=)
c.1884T>G (p.Ser628=)
c.1845T>G (p.Ser615=)
18g.33739366T=CA2294855946ASXL3c.1965T= (p.Ser655=)
c.1962T= (p.Ser654=)
c.*1086T= (n.*1086T=)
c.*1621T= (n.*1621T=)
c.2174T= (n.2174T=)
c.1794T= (p.Ser598=)
c.1842T= (p.Ser614=)
c.1938T= (p.Ser646=)
c.1884T= (p.Ser628=)
c.1845T= (p.Ser615=)
18g.33739367A=CA2294855947ASXL3c.1966A= (p.Ser656=)
c.1963A= (p.Ser655=)
c.*1087A= (n.*1087A=)
c.*1622A= (n.*1622A=)
c.2175A= (n.2175A=)
c.1795A= (p.Ser599=)
c.1843A= (p.Ser615=)
c.1939A= (p.Ser647=)
c.1885A= (p.Ser629=)
c.1846A= (p.Ser616=)
18g.33739367A>CCA402176967ASXL3c.1966A>C (p.Ser656Arg)
c.1963A>C (p.Ser655Arg)
c.*1087A>C (n.*1087A>C)
c.*1622A>C (n.*1622A>C)
c.2175A>C (n.2175A>C)
c.1795A>C (p.Ser599Arg)
c.1843A>C (p.Ser615Arg)
c.1939A>C (p.Ser647Arg)
c.1885A>C (p.Ser629Arg)
c.1846A>C (p.Ser616Arg)
18g.33739367A>GCA8933844ASXL3c.1966A>G (p.Ser656Gly)
c.1963A>G (p.Ser655Gly)
c.*1087A>G (n.*1087A>G)
c.*1622A>G (n.*1622A>G)
c.2175A>G (n.2175A>G)
c.1795A>G (p.Ser599Gly)
c.1843A>G (p.Ser615Gly)
c.1939A>G (p.Ser647Gly)
c.1885A>G (p.Ser629Gly)
c.1846A>G (p.Ser616Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739367A>TCA402176968ASXL3c.1966A>T (p.Ser656Cys)
c.1963A>T (p.Ser655Cys)
c.*1087A>T (n.*1087A>T)
c.*1622A>T (n.*1622A>T)
c.2175A>T (n.2175A>T)
c.1795A>T (p.Ser599Cys)
c.1843A>T (p.Ser615Cys)
c.1939A>T (p.Ser647Cys)
c.1885A>T (p.Ser629Cys)
c.1846A>T (p.Ser616Cys)
18g.33739368G>ACA402176969ASXL3c.1967G>A (p.Ser656Asn)
c.1964G>A (p.Ser655Asn)
c.*1088G>A (n.*1088G>A)
c.*1623G>A (n.*1623G>A)
c.2176G>A (n.2176G>A)
c.1796G>A (p.Ser599Asn)
c.1844G>A (p.Ser615Asn)
c.1940G>A (p.Ser647Asn)
c.1886G>A (p.Ser629Asn)
c.1847G>A (p.Ser616Asn)
18g.33739368G>CCA402176970ASXL3c.1967G>C (p.Ser656Thr)
c.1964G>C (p.Ser655Thr)
c.*1088G>C (n.*1088G>C)
c.*1623G>C (n.*1623G>C)
c.2176G>C (n.2176G>C)
c.1796G>C (p.Ser599Thr)
c.1844G>C (p.Ser615Thr)
c.1940G>C (p.Ser647Thr)
c.1886G>C (p.Ser629Thr)
c.1847G>C (p.Ser616Thr)
18g.33739368G>TCA402176971ASXL3c.1967G>T (p.Ser656Ile)
c.1964G>T (p.Ser655Ile)
c.*1088G>T (n.*1088G>T)
c.*1623G>T (n.*1623G>T)
c.2176G>T (n.2176G>T)
c.1796G>T (p.Ser599Ile)
c.1844G>T (p.Ser615Ile)
c.1940G>T (p.Ser647Ile)
c.1886G>T (p.Ser629Ile)
c.1847G>T (p.Ser616Ile)
18g.33739369C>ACA402176972ASXL3c.1968C>A (p.Ser656Arg)
c.1965C>A (p.Ser655Arg)
c.*1089C>A (n.*1089C>A)
c.*1624C>A (n.*1624C>A)
c.2177C>A (n.2177C>A)
c.1797C>A (p.Ser599Arg)
c.1845C>A (p.Ser615Arg)
c.1941C>A (p.Ser647Arg)
c.1887C>A (p.Ser629Arg)
c.1848C>A (p.Ser616Arg)
18g.33739369C=CA2294855948ASXL3c.1968C= (p.Ser656=)
c.1965C= (p.Ser655=)
c.*1089C= (n.*1089C=)
c.*1624C= (n.*1624C=)
c.2177C= (n.2177C=)
c.1797C= (p.Ser599=)
c.1845C= (p.Ser615=)
c.1941C= (p.Ser647=)
c.1887C= (p.Ser629=)
c.1848C= (p.Ser616=)
18g.33739369C>GCA402176973ASXL3c.1968C>G (p.Ser656Arg)
c.1965C>G (p.Ser655Arg)
c.*1089C>G (n.*1089C>G)
c.*1624C>G (n.*1624C>G)
c.2177C>G (n.2177C>G)
c.1797C>G (p.Ser599Arg)
c.1845C>G (p.Ser615Arg)
c.1941C>G (p.Ser647Arg)
c.1887C>G (p.Ser629Arg)
c.1848C>G (p.Ser616Arg)
18g.33739369C>TCA8933845ASXL3c.1968C>T (p.Ser656=)
c.1965C>T (p.Ser655=)
c.*1089C>T (n.*1089C>T)
c.*1624C>T (n.*1624C>T)
c.2177C>T (n.2177C>T)
c.1797C>T (p.Ser599=)
c.1845C>T (p.Ser615=)
c.1941C>T (p.Ser647=)
c.1887C>T (p.Ser629=)
c.1848C>T (p.Ser616=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739370A>CCA402176974ASXL3c.1969A>C (p.Thr657Pro)
c.1966A>C (p.Thr656Pro)
c.*1090A>C (n.*1090A>C)
c.*1625A>C (n.*1625A>C)
c.2178A>C (n.2178A>C)
c.1798A>C (p.Thr600Pro)
c.1846A>C (p.Thr616Pro)
c.1942A>C (p.Thr648Pro)
c.1888A>C (p.Thr630Pro)
c.1849A>C (p.Thr617Pro)
18g.33739370A>GCA402176975ASXL3c.1969A>G (p.Thr657Ala)
c.1966A>G (p.Thr656Ala)
c.*1090A>G (n.*1090A>G)
c.*1625A>G (n.*1625A>G)
c.2178A>G (n.2178A>G)
c.1798A>G (p.Thr600Ala)
c.1846A>G (p.Thr616Ala)
c.1942A>G (p.Thr648Ala)
c.1888A>G (p.Thr630Ala)
c.1849A>G (p.Thr617Ala)
18g.33739370A>TCA402176976ASXL3c.1969A>T (p.Thr657Ser)
c.1966A>T (p.Thr656Ser)
c.*1090A>T (n.*1090A>T)
c.*1625A>T (n.*1625A>T)
c.2178A>T (n.2178A>T)
c.1798A>T (p.Thr600Ser)
c.1846A>T (p.Thr616Ser)
c.1942A>T (p.Thr648Ser)
c.1888A>T (p.Thr630Ser)
c.1849A>T (p.Thr617Ser)
18g.33739371C>ACA402176979ASXL3c.1970C>A (p.Thr657Asn)
c.1967C>A (p.Thr656Asn)
c.*1091C>A (n.*1091C>A)
c.*1626C>A (n.*1626C>A)
c.2179C>A (n.2179C>A)
c.1799C>A (p.Thr600Asn)
c.1847C>A (p.Thr616Asn)
c.1943C>A (p.Thr648Asn)
c.1889C>A (p.Thr630Asn)
c.1850C>A (p.Thr617Asn)
18g.33739371C>GCA402176977ASXL3c.1970C>G (p.Thr657Ser)
c.1967C>G (p.Thr656Ser)
c.*1091C>G (n.*1091C>G)
c.*1626C>G (n.*1626C>G)
c.2179C>G (n.2179C>G)
c.1799C>G (p.Thr600Ser)
c.1847C>G (p.Thr616Ser)
c.1943C>G (p.Thr648Ser)
c.1889C>G (p.Thr630Ser)
c.1850C>G (p.Thr617Ser)
18g.33739371C>TCA402176978ASXL3c.1970C>T (p.Thr657Ile)
c.1967C>T (p.Thr656Ile)
c.*1091C>T (n.*1091C>T)
c.*1626C>T (n.*1626C>T)
c.2179C>T (n.2179C>T)
c.1799C>T (p.Thr600Ile)
c.1847C>T (p.Thr616Ile)
c.1943C>T (p.Thr648Ile)
c.1889C>T (p.Thr630Ile)
c.1850C>T (p.Thr617Ile)
18g.33739371_33739372insAAGTTCACAAGCCAAGCCCTGCA2812055566ASXL3c.1970_1971insAAGTTCACAAGCCAAGCCCTG (p.Thr657_Glu658insSerSerGlnAlaLysProCys)
c.1967_1968insAAGTTCACAAGCCAAGCCCTG (p.Thr656_Glu657insSerSerGlnAlaLysProCys)
c.*1091_*1092insAAGTTCACAAGCCAAGCCCTG (n.*1091_*1092insAAGTTCACAAGCCAAGCCCTG)
c.*1626_*1627insAAGTTCACAAGCCAAGCCCTG (n.*1626_*1627insAAGTTCACAAGCCAAGCCCTG)
c.2179_2180insAAGTTCACAAGCCAAGCCCTG (n.2179_2180insAAGTTCACAAGCCAAGCCCTG)
c.1799_1800insAAGTTCACAAGCCAAGCCCTG (p.Thr600_Glu601insSerSerGlnAlaLysProCys)
c.1847_1848insAAGTTCACAAGCCAAGCCCTG (p.Thr616_Glu617insSerSerGlnAlaLysProCys)
c.1943_1944insAAGTTCACAAGCCAAGCCCTG (p.Thr648_Glu649insSerSerGlnAlaLysProCys)
c.1889_1890insAAGTTCACAAGCCAAGCCCTG (p.Thr630_Glu631insSerSerGlnAlaLysProCys)
c.1850_1851insAAGTTCACAAGCCAAGCCCTG (p.Thr617_Glu618insSerSerGlnAlaLysProCys)
18g.33739372T>ACA503768694ASXL3c.1971T>A (p.Thr657=)
c.1968T>A (p.Thr656=)
c.*1092T>A (n.*1092T>A)
c.*1627T>A (n.*1627T>A)
c.2180T>A (n.2180T>A)
c.1800T>A (p.Thr600=)
c.1848T>A (p.Thr616=)
c.1944T>A (p.Thr648=)
c.1890T>A (p.Thr630=)
c.1851T>A (p.Thr617=)
18g.33739372T>CCA503768692ASXL3c.1971T>C (p.Thr657=)
c.1968T>C (p.Thr656=)
c.*1092T>C (n.*1092T>C)
c.*1627T>C (n.*1627T>C)
c.2180T>C (n.2180T>C)
c.1800T>C (p.Thr600=)
c.1848T>C (p.Thr616=)
c.1944T>C (p.Thr648=)
c.1890T>C (p.Thr630=)
c.1851T>C (p.Thr617=)
18g.33739372T>GCA503768690ASXL3c.1971T>G (p.Thr657=)
c.1968T>G (p.Thr656=)
c.*1092T>G (n.*1092T>G)
c.*1627T>G (n.*1627T>G)
c.2180T>G (n.2180T>G)
c.1800T>G (p.Thr600=)
c.1848T>G (p.Thr616=)
c.1944T>G (p.Thr648=)
c.1890T>G (p.Thr630=)
c.1851T>G (p.Thr617=)
18g.33739373G>ACA402176980ASXL3c.1972G>A (p.Glu658Lys)
c.1969G>A (p.Glu657Lys)
c.*1093G>A (n.*1093G>A)
c.*1628G>A (n.*1628G>A)
c.2181G>A (n.2181G>A)
c.1801G>A (p.Glu601Lys)
c.1849G>A (p.Glu617Lys)
c.1945G>A (p.Glu649Lys)
c.1891G>A (p.Glu631Lys)
c.1852G>A (p.Glu618Lys)
COSMIC COSMIC
18g.33739373G>CCA402176981ASXL3c.1972G>C (p.Glu658Gln)
c.1969G>C (p.Glu657Gln)
c.*1093G>C (n.*1093G>C)
c.*1628G>C (n.*1628G>C)
c.2181G>C (n.2181G>C)
c.1801G>C (p.Glu601Gln)
c.1849G>C (p.Glu617Gln)
c.1945G>C (p.Glu649Gln)
c.1891G>C (p.Glu631Gln)
c.1852G>C (p.Glu618Gln)
18g.33739373G>TCA402176982ASXL3c.1972G>T (p.Glu658Ter)
c.1969G>T (p.Glu657Ter)
c.*1093G>T (n.*1093G>T)
c.*1628G>T (n.*1628G>T)
c.2181G>T (n.2181G>T)
c.1801G>T (p.Glu601Ter)
c.1849G>T (p.Glu617Ter)
c.1945G>T (p.Glu649Ter)
c.1891G>T (p.Glu631Ter)
c.1852G>T (p.Glu618Ter)
18g.33739374A>CCA402176983ASXL3c.1973A>C (p.Glu658Ala)
c.1970A>C (p.Glu657Ala)
c.*1094A>C (n.*1094A>C)
c.*1629A>C (n.*1629A>C)
c.2182A>C (n.2182A>C)
c.1802A>C (p.Glu601Ala)
c.1850A>C (p.Glu617Ala)
c.1946A>C (p.Glu649Ala)
c.1892A>C (p.Glu631Ala)
c.1853A>C (p.Glu618Ala)
18g.33739374A>GCA402176984ASXL3c.1973A>G (p.Glu658Gly)
c.1970A>G (p.Glu657Gly)
c.*1094A>G (n.*1094A>G)
c.*1629A>G (n.*1629A>G)
c.2182A>G (n.2182A>G)
c.1802A>G (p.Glu601Gly)
c.1850A>G (p.Glu617Gly)
c.1946A>G (p.Glu649Gly)
c.1892A>G (p.Glu631Gly)
c.1853A>G (p.Glu618Gly)
gnomAD v4
18g.33739374A>TCA402176985ASXL3c.1973A>T (p.Glu658Val)
c.1970A>T (p.Glu657Val)
c.*1094A>T (n.*1094A>T)
c.*1629A>T (n.*1629A>T)
c.2182A>T (n.2182A>T)
c.1802A>T (p.Glu601Val)
c.1850A>T (p.Glu617Val)
c.1946A>T (p.Glu649Val)
c.1892A>T (p.Glu631Val)
c.1853A>T (p.Glu618Val)
18g.33739377delCA645601889ASXL3c.1976del (p.Asn659IlefsTer19)
c.1973del (p.Asn658IlefsTer19)
c.*1097del (n.*1097del)
c.*1632del (n.*1632del)
c.2185del (n.2185del)
c.1805del (p.Asn602IlefsTer19)
c.1853del (p.Asn618IlefsTer19)
c.1949del (p.Asn650IlefsTer19)
c.1895del (p.Asn632IlefsTer19)
c.1856del (p.Asn619IlefsTer19)
COSMIC COSMIC
18g.33739375A>CCA402176986ASXL3c.1974A>C (p.Glu658Asp)
c.1971A>C (p.Glu657Asp)
c.*1095A>C (n.*1095A>C)
c.*1630A>C (n.*1630A>C)
c.2183A>C (n.2183A>C)
c.1803A>C (p.Glu601Asp)
c.1851A>C (p.Glu617Asp)
c.1947A>C (p.Glu649Asp)
c.1893A>C (p.Glu631Asp)
c.1854A>C (p.Glu618Asp)
18g.33739375A>GCA503768701ASXL3c.1974A>G (p.Glu658=)
c.1971A>G (p.Glu657=)
c.*1095A>G (n.*1095A>G)
c.*1630A>G (n.*1630A>G)
c.2183A>G (n.2183A>G)
c.1803A>G (p.Glu601=)
c.1851A>G (p.Glu617=)
c.1947A>G (p.Glu649=)
c.1893A>G (p.Glu631=)
c.1854A>G (p.Glu618=)
18g.33739375A>TCA402176987ASXL3c.1974A>T (p.Glu658Asp)
c.1971A>T (p.Glu657Asp)
c.*1095A>T (n.*1095A>T)
c.*1630A>T (n.*1630A>T)
c.2183A>T (n.2183A>T)
c.1803A>T (p.Glu601Asp)
c.1851A>T (p.Glu617Asp)
c.1947A>T (p.Glu649Asp)
c.1893A>T (p.Glu631Asp)
c.1854A>T (p.Glu618Asp)
18g.33739376A>CCA402176988ASXL3c.1975A>C (p.Asn659His)
c.1972A>C (p.Asn658His)
c.*1096A>C (n.*1096A>C)
c.*1631A>C (n.*1631A>C)
c.2184A>C (n.2184A>C)
c.1804A>C (p.Asn602His)
c.1852A>C (p.Asn618His)
c.1948A>C (p.Asn650His)
c.1894A>C (p.Asn632His)
c.1855A>C (p.Asn619His)
dbSNP gnomAD v3 gnomAD v4
18g.33739376A>GCA402176989ASXL3c.1975A>G (p.Asn659Asp)
c.1972A>G (p.Asn658Asp)
c.*1096A>G (n.*1096A>G)
c.*1631A>G (n.*1631A>G)
c.2184A>G (n.2184A>G)
c.1804A>G (p.Asn602Asp)
c.1852A>G (p.Asn618Asp)
c.1948A>G (p.Asn650Asp)
c.1894A>G (p.Asn632Asp)
c.1855A>G (p.Asn619Asp)
18g.33739376A>TCA402176990ASXL3c.1975A>T (p.Asn659Tyr)
c.1972A>T (p.Asn658Tyr)
c.*1096A>T (n.*1096A>T)
c.*1631A>T (n.*1631A>T)
c.2184A>T (n.2184A>T)
c.1804A>T (p.Asn602Tyr)
c.1852A>T (p.Asn618Tyr)
c.1948A>T (p.Asn650Tyr)
c.1894A>T (p.Asn632Tyr)
c.1855A>T (p.Asn619Tyr)
18g.33739377A=CA2294855949ASXL3c.1976A= (p.Asn659=)
c.1973A= (p.Asn658=)
c.*1097A= (n.*1097A=)
c.*1632A= (n.*1632A=)
c.2185A= (n.2185A=)
c.1805A= (p.Asn602=)
c.1853A= (p.Asn618=)
c.1949A= (p.Asn650=)
c.1895A= (p.Asn632=)
c.1856A= (p.Asn619=)
18g.33739377A>CCA402176992ASXL3c.1976A>C (p.Asn659Thr)
c.1973A>C (p.Asn658Thr)
c.*1097A>C (n.*1097A>C)
c.*1632A>C (n.*1632A>C)
c.2185A>C (n.2185A>C)
c.1805A>C (p.Asn602Thr)
c.1853A>C (p.Asn618Thr)
c.1949A>C (p.Asn650Thr)
c.1895A>C (p.Asn632Thr)
c.1856A>C (p.Asn619Thr)
18g.33739377A>GCA402176991ASXL3c.1976A>G (p.Asn659Ser)
c.1973A>G (p.Asn658Ser)
c.*1097A>G (n.*1097A>G)
c.*1632A>G (n.*1632A>G)
c.2185A>G (n.2185A>G)
c.1805A>G (p.Asn602Ser)
c.1853A>G (p.Asn618Ser)
c.1949A>G (p.Asn650Ser)
c.1895A>G (p.Asn632Ser)
c.1856A>G (p.Asn619Ser)
18g.33739377A>TCA8933846ASXL3c.1976A>T (p.Asn659Ile)
c.1973A>T (p.Asn658Ile)
c.*1097A>T (n.*1097A>T)
c.*1632A>T (n.*1632A>T)
c.2185A>T (n.2185A>T)
c.1805A>T (p.Asn602Ile)
c.1853A>T (p.Asn618Ile)
c.1949A>T (p.Asn650Ile)
c.1895A>T (p.Asn632Ile)
c.1856A>T (p.Asn619Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739378T>ACA402176993ASXL3c.1977T>A (p.Asn659Lys)
c.1974T>A (p.Asn658Lys)
c.*1098T>A (n.*1098T>A)
c.*1633T>A (n.*1633T>A)
c.2186T>A (n.2186T>A)
c.1806T>A (p.Asn602Lys)
c.1854T>A (p.Asn618Lys)
c.1950T>A (p.Asn650Lys)
c.1896T>A (p.Asn632Lys)
c.1857T>A (p.Asn619Lys)
18g.33739378T>CCA503768709ASXL3c.1977T>C (p.Asn659=)
c.1974T>C (p.Asn658=)
c.*1098T>C (n.*1098T>C)
c.*1633T>C (n.*1633T>C)
c.2186T>C (n.2186T>C)
c.1806T>C (p.Asn602=)
c.1854T>C (p.Asn618=)
c.1950T>C (p.Asn650=)
c.1896T>C (p.Asn632=)
c.1857T>C (p.Asn619=)
18g.33739378T>GCA402176994ASXL3c.1977T>G (p.Asn659Lys)
c.1974T>G (p.Asn658Lys)
c.*1098T>G (n.*1098T>G)
c.*1633T>G (n.*1633T>G)
c.2186T>G (n.2186T>G)
c.1806T>G (p.Asn602Lys)
c.1854T>G (p.Asn618Lys)
c.1950T>G (p.Asn650Lys)
c.1896T>G (p.Asn632Lys)
c.1857T>G (p.Asn619Lys)
18g.33739378_33739382delinsTACAGCA2294855950ASXL3c.1977_1981delinsTACAG (p.Asn659=)
c.1974_1978delinsTACAG (p.Asn658=)
c.*1098_*1102delinsTACAG (n.*1098_*1102delinsTACAG)
c.*1633_*1637delinsTACAG (n.*1633_*1637delinsTACAG)
c.2186_2190delinsTACAG (n.2186_2190delinsTACAG)
c.1806_1810delinsTACAG (p.Asn602=)
c.1854_1858delinsTACAG (p.Asn618=)
c.1950_1954delinsTACAG (p.Asn650=)
c.1896_1900delinsTACAG (p.Asn632=)
c.1857_1861delinsTACAG (p.Asn619=)
18g.33739379A=CA2294855951ASXL3c.1978A= (p.Thr660=)
c.1975A= (p.Thr659=)
c.*1099A= (n.*1099A=)
c.*1634A= (n.*1634A=)
c.2187A= (n.2187A=)
c.1807A= (p.Thr603=)
c.1855A= (p.Thr619=)
c.1951A= (p.Thr651=)
c.1897A= (p.Thr633=)
c.1858A= (p.Thr620=)
18g.33739379A>CCA402176995ASXL3c.1978A>C (p.Thr660Pro)
c.1975A>C (p.Thr659Pro)
c.*1099A>C (n.*1099A>C)
c.*1634A>C (n.*1634A>C)
c.2187A>C (n.2187A>C)
c.1807A>C (p.Thr603Pro)
c.1855A>C (p.Thr619Pro)
c.1951A>C (p.Thr651Pro)
c.1897A>C (p.Thr633Pro)
c.1858A>C (p.Thr620Pro)
18g.33739379A>GCA402176996ASXL3c.1978A>G (p.Thr660Ala)
c.1975A>G (p.Thr659Ala)
c.*1099A>G (n.*1099A>G)
c.*1634A>G (n.*1634A>G)
c.2187A>G (n.2187A>G)
c.1807A>G (p.Thr603Ala)
c.1855A>G (p.Thr619Ala)
c.1951A>G (p.Thr651Ala)
c.1897A>G (p.Thr633Ala)
c.1858A>G (p.Thr620Ala)
dbSNP
18g.33739379A>TCA402176997ASXL3c.1978A>T (p.Thr660Ser)
c.1975A>T (p.Thr659Ser)
c.*1099A>T (n.*1099A>T)
c.*1634A>T (n.*1634A>T)
c.2187A>T (n.2187A>T)
c.1807A>T (p.Thr603Ser)
c.1855A>T (p.Thr619Ser)
c.1951A>T (p.Thr651Ser)
c.1897A>T (p.Thr633Ser)
c.1858A>T (p.Thr620Ser)
18g.33739382_33739385delCA658653850ASXL3c.1981_1984del (p.Asp661AsnfsTer16)
c.1978_1981del (p.Asp660AsnfsTer16)
c.*1102_*1105del (n.*1102_*1105del)
c.*1637_*1640del (n.*1637_*1640del)
c.2190_2193del (n.2190_2193del)
c.1810_1813del (p.Asp604AsnfsTer16)
c.1858_1861del (p.Asp620AsnfsTer16)
c.1954_1957del (p.Asp652AsnfsTer16)
c.1900_1903del (p.Asp634AsnfsTer16)
c.1861_1864del (p.Asp621AsnfsTer16)
ClinVar dbSNP
18g.33739380C>ACA402176998ASXL3c.1979C>A (p.Thr660Lys)
c.1976C>A (p.Thr659Lys)
c.*1100C>A (n.*1100C>A)
c.*1635C>A (n.*1635C>A)
c.2188C>A (n.2188C>A)
c.1808C>A (p.Thr603Lys)
c.1856C>A (p.Thr619Lys)
c.1952C>A (p.Thr651Lys)
c.1898C>A (p.Thr633Lys)
c.1859C>A (p.Thr620Lys)
18g.33739380C>GCA402176999ASXL3c.1979C>G (p.Thr660Arg)
c.1976C>G (p.Thr659Arg)
c.*1100C>G (n.*1100C>G)
c.*1635C>G (n.*1635C>G)
c.2188C>G (n.2188C>G)
c.1808C>G (p.Thr603Arg)
c.1856C>G (p.Thr619Arg)
c.1952C>G (p.Thr651Arg)
c.1898C>G (p.Thr633Arg)
c.1859C>G (p.Thr620Arg)
18g.33739380C>TCA402177000ASXL3c.1979C>T (p.Thr660Ile)
c.1976C>T (p.Thr659Ile)
c.*1100C>T (n.*1100C>T)
c.*1635C>T (n.*1635C>T)
c.2188C>T (n.2188C>T)
c.1808C>T (p.Thr603Ile)
c.1856C>T (p.Thr619Ile)
c.1952C>T (p.Thr651Ile)
c.1898C>T (p.Thr633Ile)
c.1859C>T (p.Thr620Ile)
gnomAD v4
18g.33739381delCA2580617439ASXL3c.1980del (p.Asp661ThrfsTer17)
c.1977del (p.Asp660ThrfsTer17)
c.*1101del (n.*1101del)
c.*1636del (n.*1636del)
c.2189del (n.2189del)
c.1809del (p.Asp604ThrfsTer17)
c.1857del (p.Asp620ThrfsTer17)
c.1953del (p.Asp652ThrfsTer17)
c.1899del (p.Asp634ThrfsTer17)
c.1860del (p.Asp621ThrfsTer17)
ClinVar
18g.33739381A>CCA503768714ASXL3c.1980A>C (p.Thr660=)
c.1977A>C (p.Thr659=)
c.*1101A>C (n.*1101A>C)
c.*1636A>C (n.*1636A>C)
c.2189A>C (n.2189A>C)
c.1809A>C (p.Thr603=)
c.1857A>C (p.Thr619=)
c.1953A>C (p.Thr651=)
c.1899A>C (p.Thr633=)
c.1860A>C (p.Thr620=)
18g.33739381A>GCA503768715ASXL3c.1980A>G (p.Thr660=)
c.1977A>G (p.Thr659=)
c.*1101A>G (n.*1101A>G)
c.*1636A>G (n.*1636A>G)
c.2189A>G (n.2189A>G)
c.1809A>G (p.Thr603=)
c.1857A>G (p.Thr619=)
c.1953A>G (p.Thr651=)
c.1899A>G (p.Thr633=)
c.1860A>G (p.Thr620=)
18g.33739381A>TCA503768716ASXL3c.1980A>T (p.Thr660=)
c.1977A>T (p.Thr659=)
c.*1101A>T (n.*1101A>T)
c.*1636A>T (n.*1636A>T)
c.2189A>T (n.2189A>T)
c.1809A>T (p.Thr603=)
c.1857A>T (p.Thr619=)
c.1953A>T (p.Thr651=)
c.1899A>T (p.Thr633=)
c.1860A>T (p.Thr620=)
18g.33739382G>ACA402177003ASXL3c.1981G>A (p.Asp661Asn)
c.1978G>A (p.Asp660Asn)
c.*1102G>A (n.*1102G>A)
c.*1637G>A (n.*1637G>A)
c.2190G>A (n.2190G>A)
c.1810G>A (p.Asp604Asn)
c.1858G>A (p.Asp620Asn)
c.1954G>A (p.Asp652Asn)
c.1900G>A (p.Asp634Asn)
c.1861G>A (p.Asp621Asn)
gnomAD v4
18g.33739382G>CCA402177001ASXL3c.1981G>C (p.Asp661His)
c.1978G>C (p.Asp660His)
c.*1102G>C (n.*1102G>C)
c.*1637G>C (n.*1637G>C)
c.2190G>C (n.2190G>C)
c.1810G>C (p.Asp604His)
c.1858G>C (p.Asp620His)
c.1954G>C (p.Asp652His)
c.1900G>C (p.Asp634His)
c.1861G>C (p.Asp621His)
18g.33739382G>TCA402177002ASXL3c.1981G>T (p.Asp661Tyr)
c.1978G>T (p.Asp660Tyr)
c.*1102G>T (n.*1102G>T)
c.*1637G>T (n.*1637G>T)
c.2190G>T (n.2190G>T)
c.1810G>T (p.Asp604Tyr)
c.1858G>T (p.Asp620Tyr)
c.1954G>T (p.Asp652Tyr)
c.1900G>T (p.Asp634Tyr)
c.1861G>T (p.Asp621Tyr)
18g.33739383A>CCA402177004ASXL3c.1982A>C (p.Asp661Ala)
c.1979A>C (p.Asp660Ala)
c.*1103A>C (n.*1103A>C)
c.*1638A>C (n.*1638A>C)
c.2191A>C (n.2191A>C)
c.1811A>C (p.Asp604Ala)
c.1859A>C (p.Asp620Ala)
c.1955A>C (p.Asp652Ala)
c.1901A>C (p.Asp634Ala)
c.1862A>C (p.Asp621Ala)
18g.33739383A>GCA402177005ASXL3c.1982A>G (p.Asp661Gly)
c.1979A>G (p.Asp660Gly)
c.*1103A>G (n.*1103A>G)
c.*1638A>G (n.*1638A>G)
c.2191A>G (n.2191A>G)
c.1811A>G (p.Asp604Gly)
c.1859A>G (p.Asp620Gly)
c.1955A>G (p.Asp652Gly)
c.1901A>G (p.Asp634Gly)
c.1862A>G (p.Asp621Gly)
18g.33739383A>TCA402177006ASXL3c.1982A>T (p.Asp661Val)
c.1979A>T (p.Asp660Val)
c.*1103A>T (n.*1103A>T)
c.*1638A>T (n.*1638A>T)
c.2191A>T (n.2191A>T)
c.1811A>T (p.Asp604Val)
c.1859A>T (p.Asp620Val)
c.1955A>T (p.Asp652Val)
c.1901A>T (p.Asp634Val)
c.1862A>T (p.Asp621Val)
18g.33739384C>ACA402177007ASXL3c.1983C>A (p.Asp661Glu)
c.1980C>A (p.Asp660Glu)
c.*1104C>A (n.*1104C>A)
c.*1639C>A (n.*1639C>A)
c.2192C>A (n.2192C>A)
c.1812C>A (p.Asp604Glu)
c.1860C>A (p.Asp620Glu)
c.1956C>A (p.Asp652Glu)
c.1902C>A (p.Asp634Glu)
c.1863C>A (p.Asp621Glu)
18g.33739384C=CA2294855952ASXL3c.1983C= (p.Asp661=)
c.1980C= (p.Asp660=)
c.*1104C= (n.*1104C=)
c.*1639C= (n.*1639C=)
c.2192C= (n.2192C=)
c.1812C= (p.Asp604=)
c.1860C= (p.Asp620=)
c.1956C= (p.Asp652=)
c.1902C= (p.Asp634=)
c.1863C= (p.Asp621=)
18g.33739384C>GCA8933847ASXL3c.1983C>G (p.Asp661Glu)
c.1980C>G (p.Asp660Glu)
c.*1104C>G (n.*1104C>G)
c.*1639C>G (n.*1639C>G)
c.2192C>G (n.2192C>G)
c.1812C>G (p.Asp604Glu)
c.1860C>G (p.Asp620Glu)
c.1956C>G (p.Asp652Glu)
c.1902C>G (p.Asp634Glu)
c.1863C>G (p.Asp621Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739384C>TCA503768721ASXL3c.1983C>T (p.Asp661=)
c.1980C>T (p.Asp660=)
c.*1104C>T (n.*1104C>T)
c.*1639C>T (n.*1639C>T)
c.2192C>T (n.2192C>T)
c.1812C>T (p.Asp604=)
c.1860C>T (p.Asp620=)
c.1956C>T (p.Asp652=)
c.1902C>T (p.Asp634=)
c.1863C>T (p.Asp621=)
18g.33739385A>CCA402177008ASXL3c.1984A>C (p.Lys662Gln)
c.1981A>C (p.Lys661Gln)
c.*1105A>C (n.*1105A>C)
c.*1640A>C (n.*1640A>C)
c.2193A>C (n.2193A>C)
c.1813A>C (p.Lys605Gln)
c.1861A>C (p.Lys621Gln)
c.1957A>C (p.Lys653Gln)
c.1903A>C (p.Lys635Gln)
c.1864A>C (p.Lys622Gln)
18g.33739385A>GCA402177010ASXL3c.1984A>G (p.Lys662Glu)
c.1981A>G (p.Lys661Glu)
c.*1105A>G (n.*1105A>G)
c.*1640A>G (n.*1640A>G)
c.2193A>G (n.2193A>G)
c.1813A>G (p.Lys605Glu)
c.1861A>G (p.Lys621Glu)
c.1957A>G (p.Lys653Glu)
c.1903A>G (p.Lys635Glu)
c.1864A>G (p.Lys622Glu)
gnomAD v4
18g.33739385A>TCA402177009ASXL3c.1984A>T (p.Lys662Ter)
c.1981A>T (p.Lys661Ter)
c.*1105A>T (n.*1105A>T)
c.*1640A>T (n.*1640A>T)
c.2193A>T (n.2193A>T)
c.1813A>T (p.Lys605Ter)
c.1861A>T (p.Lys621Ter)
c.1957A>T (p.Lys653Ter)
c.1903A>T (p.Lys635Ter)
c.1864A>T (p.Lys622Ter)
18g.33739386A=CA2294855953ASXL3c.1985A= (p.Lys662=)
c.1982A= (p.Lys661=)
c.*1106A= (n.*1106A=)
c.*1641A= (n.*1641A=)
c.2194A= (n.2194A=)
c.1814A= (p.Lys605=)
c.1862A= (p.Lys621=)
c.1958A= (p.Lys653=)
c.1904A= (p.Lys635=)
c.1865A= (p.Lys622=)
18g.33739386A>CCA402177011ASXL3c.1985A>C (p.Lys662Thr)
c.1982A>C (p.Lys661Thr)
c.*1106A>C (n.*1106A>C)
c.*1641A>C (n.*1641A>C)
c.2194A>C (n.2194A>C)
c.1814A>C (p.Lys605Thr)
c.1862A>C (p.Lys621Thr)
c.1958A>C (p.Lys653Thr)
c.1904A>C (p.Lys635Thr)
c.1865A>C (p.Lys622Thr)
18g.33739386A>GCA402177012ASXL3c.1985A>G (p.Lys662Arg)
c.1982A>G (p.Lys661Arg)
c.*1106A>G (n.*1106A>G)
c.*1641A>G (n.*1641A>G)
c.2194A>G (n.2194A>G)
c.1814A>G (p.Lys605Arg)
c.1862A>G (p.Lys621Arg)
c.1958A>G (p.Lys653Arg)
c.1904A>G (p.Lys635Arg)
c.1865A>G (p.Lys622Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739386A>TCA402177013ASXL3c.1985A>T (p.Lys662Ile)
c.1982A>T (p.Lys661Ile)
c.*1106A>T (n.*1106A>T)
c.*1641A>T (n.*1641A>T)
c.2194A>T (n.2194A>T)
c.1814A>T (p.Lys605Ile)
c.1862A>T (p.Lys621Ile)
c.1958A>T (p.Lys653Ile)
c.1904A>T (p.Lys635Ile)
c.1865A>T (p.Lys622Ile)
18g.33739387A>CCA402177014ASXL3c.1986A>C (p.Lys662Asn)
c.1983A>C (p.Lys661Asn)
c.*1107A>C (n.*1107A>C)
c.*1642A>C (n.*1642A>C)
c.2195A>C (n.2195A>C)
c.1815A>C (p.Lys605Asn)
c.1863A>C (p.Lys621Asn)
c.1959A>C (p.Lys653Asn)
c.1905A>C (p.Lys635Asn)
c.1866A>C (p.Lys622Asn)
18g.33739387A>GCA503768724ASXL3c.1986A>G (p.Lys662=)
c.1983A>G (p.Lys661=)
c.*1107A>G (n.*1107A>G)
c.*1642A>G (n.*1642A>G)
c.2195A>G (n.2195A>G)
c.1815A>G (p.Lys605=)
c.1863A>G (p.Lys621=)
c.1959A>G (p.Lys653=)
c.1905A>G (p.Lys635=)
c.1866A>G (p.Lys622=)
gnomAD v4
18g.33739387A>TCA402177015ASXL3c.1986A>T (p.Lys662Asn)
c.1983A>T (p.Lys661Asn)
c.*1107A>T (n.*1107A>T)
c.*1642A>T (n.*1642A>T)
c.2195A>T (n.2195A>T)
c.1815A>T (p.Lys605Asn)
c.1863A>T (p.Lys621Asn)
c.1959A>T (p.Lys653Asn)
c.1905A>T (p.Lys635Asn)
c.1866A>T (p.Lys622Asn)
18g.33739388T>ACA402177016ASXL3c.1987T>A (p.Tyr663Asn)
c.1984T>A (p.Tyr662Asn)
c.*1108T>A (n.*1108T>A)
c.*1643T>A (n.*1643T>A)
c.2196T>A (n.2196T>A)
c.1816T>A (p.Tyr606Asn)
c.1864T>A (p.Tyr622Asn)
c.1960T>A (p.Tyr654Asn)
c.1906T>A (p.Tyr636Asn)
c.1867T>A (p.Tyr623Asn)
18g.33739388T>CCA402177017ASXL3c.1987T>C (p.Tyr663His)
c.1984T>C (p.Tyr662His)
c.*1108T>C (n.*1108T>C)
c.*1643T>C (n.*1643T>C)
c.2196T>C (n.2196T>C)
c.1816T>C (p.Tyr606His)
c.1864T>C (p.Tyr622His)
c.1960T>C (p.Tyr654His)
c.1906T>C (p.Tyr636His)
c.1867T>C (p.Tyr623His)
18g.33739388T>GCA402177018ASXL3c.1987T>G (p.Tyr663Asp)
c.1984T>G (p.Tyr662Asp)
c.*1108T>G (n.*1108T>G)
c.*1643T>G (n.*1643T>G)
c.2196T>G (n.2196T>G)
c.1816T>G (p.Tyr606Asp)
c.1864T>G (p.Tyr622Asp)
c.1960T>G (p.Tyr654Asp)
c.1906T>G (p.Tyr636Asp)
c.1867T>G (p.Tyr623Asp)
18g.33739389A=CA2294855954ASXL3c.1988A= (p.Tyr663=)
c.1985A= (p.Tyr662=)
c.*1109A= (n.*1109A=)
c.*1644A= (n.*1644A=)
c.2197A= (n.2197A=)
c.1817A= (p.Tyr606=)
c.1865A= (p.Tyr622=)
c.1961A= (p.Tyr654=)
c.1907A= (p.Tyr636=)
c.1868A= (p.Tyr623=)
18g.33739389A>CCA402177019ASXL3c.1988A>C (p.Tyr663Ser)
c.1985A>C (p.Tyr662Ser)
c.*1109A>C (n.*1109A>C)
c.*1644A>C (n.*1644A>C)
c.2197A>C (n.2197A>C)
c.1817A>C (p.Tyr606Ser)
c.1865A>C (p.Tyr622Ser)
c.1961A>C (p.Tyr654Ser)
c.1907A>C (p.Tyr636Ser)
c.1868A>C (p.Tyr623Ser)
18g.33739389A>GCA8933848ASXL3c.1988A>G (p.Tyr663Cys)
c.1985A>G (p.Tyr662Cys)
c.*1109A>G (n.*1109A>G)
c.*1644A>G (n.*1644A>G)
c.2197A>G (n.2197A>G)
c.1817A>G (p.Tyr606Cys)
c.1865A>G (p.Tyr622Cys)
c.1961A>G (p.Tyr654Cys)
c.1907A>G (p.Tyr636Cys)
c.1868A>G (p.Tyr623Cys)
dbSNP ExAC gnomAD v4
18g.33739389A>TCA402177020ASXL3c.1988A>T (p.Tyr663Phe)
c.1985A>T (p.Tyr662Phe)
c.*1109A>T (n.*1109A>T)
c.*1644A>T (n.*1644A>T)
c.2197A>T (n.2197A>T)
c.1817A>T (p.Tyr606Phe)
c.1865A>T (p.Tyr622Phe)
c.1961A>T (p.Tyr654Phe)
c.1907A>T (p.Tyr636Phe)
c.1868A>T (p.Tyr623Phe)
18g.33739390C>ACA16043634ASXL3c.1989C>A (p.Tyr663Ter)
c.1986C>A (p.Tyr662Ter)
c.*1110C>A (n.*1110C>A)
c.*1645C>A (n.*1645C>A)
c.2198C>A (n.2198C>A)
c.1818C>A (p.Tyr606Ter)
c.1866C>A (p.Tyr622Ter)
c.1962C>A (p.Tyr654Ter)
c.1908C>A (p.Tyr636Ter)
c.1869C>A (p.Tyr623Ter)
ClinVar dbSNP
18g.33739390C=CA2294855955ASXL3c.1989C= (p.Tyr663=)
c.1986C= (p.Tyr662=)
c.*1110C= (n.*1110C=)
c.*1645C= (n.*1645C=)
c.2198C= (n.2198C=)
c.1818C= (p.Tyr606=)
c.1866C= (p.Tyr622=)
c.1962C= (p.Tyr654=)
c.1908C= (p.Tyr636=)
c.1869C= (p.Tyr623=)
18g.33739390C>GCA402177021ASXL3c.1989C>G (p.Tyr663Ter)
c.1986C>G (p.Tyr662Ter)
c.*1110C>G (n.*1110C>G)
c.*1645C>G (n.*1645C>G)
c.2198C>G (n.2198C>G)
c.1818C>G (p.Tyr606Ter)
c.1866C>G (p.Tyr622Ter)
c.1962C>G (p.Tyr654Ter)
c.1908C>G (p.Tyr636Ter)
c.1869C>G (p.Tyr623Ter)
18g.33739390C>TCA503768728ASXL3c.1989C>T (p.Tyr663=)
c.1986C>T (p.Tyr662=)
c.*1110C>T (n.*1110C>T)
c.*1645C>T (n.*1645C>T)
c.2198C>T (n.2198C>T)
c.1818C>T (p.Tyr606=)
c.1866C>T (p.Tyr622=)
c.1962C>T (p.Tyr654=)
c.1908C>T (p.Tyr636=)
c.1869C>T (p.Tyr623=)
18g.33739391A=CA2294855956ASXL3c.1990A= (p.Asn664=)
c.1987A= (p.Asn663=)
c.*1111A= (n.*1111A=)
c.*1646A= (n.*1646A=)
c.2199A= (n.2199A=)
c.1819A= (p.Asn607=)
c.1867A= (p.Asn623=)
c.1963A= (p.Asn655=)
c.1909A= (p.Asn637=)
c.1870A= (p.Asn624=)
18g.33739391A>CCA402177022ASXL3c.1990A>C (p.Asn664His)
c.1987A>C (p.Asn663His)
c.*1111A>C (n.*1111A>C)
c.*1646A>C (n.*1646A>C)
c.2199A>C (n.2199A>C)
c.1819A>C (p.Asn607His)
c.1867A>C (p.Asn623His)
c.1963A>C (p.Asn655His)
c.1909A>C (p.Asn637His)
c.1870A>C (p.Asn624His)
18g.33739391A>GCA402177023ASXL3c.1990A>G (p.Asn664Asp)
c.1987A>G (p.Asn663Asp)
c.*1111A>G (n.*1111A>G)
c.*1646A>G (n.*1646A>G)
c.2199A>G (n.2199A>G)
c.1819A>G (p.Asn607Asp)
c.1867A>G (p.Asn623Asp)
c.1963A>G (p.Asn655Asp)
c.1909A>G (p.Asn637Asp)
c.1870A>G (p.Asn624Asp)
18g.33739391A>TCA402177024ASXL3c.1990A>T (p.Asn664Tyr)
c.1987A>T (p.Asn663Tyr)
c.*1111A>T (n.*1111A>T)
c.*1646A>T (n.*1646A>T)
c.2199A>T (n.2199A>T)
c.1819A>T (p.Asn607Tyr)
c.1867A>T (p.Asn623Tyr)
c.1963A>T (p.Asn655Tyr)
c.1909A>T (p.Asn637Tyr)
c.1870A>T (p.Asn624Tyr)
dbSNP gnomAD v2 gnomAD v4
18g.33739392A>CCA402177025ASXL3c.1991A>C (p.Asn664Thr)
c.1988A>C (p.Asn663Thr)
c.*1112A>C (n.*1112A>C)
c.*1647A>C (n.*1647A>C)
c.2200A>C (n.2200A>C)
c.1820A>C (p.Asn607Thr)
c.1868A>C (p.Asn623Thr)
c.1964A>C (p.Asn655Thr)
c.1910A>C (p.Asn637Thr)
c.1871A>C (p.Asn624Thr)
18g.33739392A>GCA402177026ASXL3c.1991A>G (p.Asn664Ser)
c.1988A>G (p.Asn663Ser)
c.*1112A>G (n.*1112A>G)
c.*1647A>G (n.*1647A>G)
c.2200A>G (n.2200A>G)
c.1820A>G (p.Asn607Ser)
c.1868A>G (p.Asn623Ser)
c.1964A>G (p.Asn655Ser)
c.1910A>G (p.Asn637Ser)
c.1871A>G (p.Asn624Ser)
18g.33739392A>TCA402177027ASXL3c.1991A>T (p.Asn664Ile)
c.1988A>T (p.Asn663Ile)
c.*1112A>T (n.*1112A>T)
c.*1647A>T (n.*1647A>T)
c.2200A>T (n.2200A>T)
c.1820A>T (p.Asn607Ile)
c.1868A>T (p.Asn623Ile)
c.1964A>T (p.Asn655Ile)
c.1910A>T (p.Asn637Ile)
c.1871A>T (p.Asn624Ile)
18g.33739393C>ACA402177028ASXL3c.1992C>A (p.Asn664Lys)
c.1989C>A (p.Asn663Lys)
c.*1113C>A (n.*1113C>A)
c.*1648C>A (n.*1648C>A)
c.2201C>A (n.2201C>A)
c.1821C>A (p.Asn607Lys)
c.1869C>A (p.Asn623Lys)
c.1965C>A (p.Asn655Lys)
c.1911C>A (p.Asn637Lys)
c.1872C>A (p.Asn624Lys)
18g.33739393C>GCA402177029ASXL3c.1992C>G (p.Asn664Lys)
c.1989C>G (p.Asn663Lys)
c.*1113C>G (n.*1113C>G)
c.*1648C>G (n.*1648C>G)
c.2201C>G (n.2201C>G)
c.1821C>G (p.Asn607Lys)
c.1869C>G (p.Asn623Lys)
c.1965C>G (p.Asn655Lys)
c.1911C>G (p.Asn637Lys)
c.1872C>G (p.Asn624Lys)
18g.33739393C>TCA503768730ASXL3c.1992C>T (p.Asn664=)
c.1989C>T (p.Asn663=)
c.*1113C>T (n.*1113C>T)
c.*1648C>T (n.*1648C>T)
c.2201C>T (n.2201C>T)
c.1821C>T (p.Asn607=)
c.1869C>T (p.Asn623=)
c.1965C>T (p.Asn655=)
c.1911C>T (p.Asn637=)
c.1872C>T (p.Asn624=)
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

Number of alleles fetched