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.33739070_33739085delinsACAGAACATAAGGAGTCA2294855808ASXL3c.1669_1684delinsACAGAACATAAGGAGT (p.Thr557=)
c.1666_1681delinsACAGAACATAAGGAGT (p.Thr556=)
c.*790_*805delinsACAGAACATAAGGAGT (n.*790_*805delinsACAGAACATAAGGAGT)
c.*1325_*1340delinsACAGAACATAAGGAGT (n.*1325_*1340delinsACAGAACATAAGGAGT)
c.1878_1893delinsACAGAACATAAGGAGT (n.1878_1893delinsACAGAACATAAGGAGT)
c.1498_1513delinsACAGAACATAAGGAGT (p.Thr500=)
c.1546_1561delinsACAGAACATAAGGAGT (p.Thr516=)
c.1642_1657delinsACAGAACATAAGGAGT (p.Thr548=)
c.1588_1603delinsACAGAACATAAGGAGT (p.Thr530=)
c.1549_1564delinsACAGAACATAAGGAGT (p.Thr517=)
18g.33739076_33739090delCA8933791ASXL3c.1675_1689del (p.His559_Glu563del)
c.1672_1686del (p.His558_Glu562del)
c.*796_*810del (n.*796_*810del)
c.*1331_*1345del (n.*1331_*1345del)
c.1884_1898del (n.1884_1898del)
c.1504_1518del (p.His502_Glu506del)
c.1552_1566del (p.His518_Glu522del)
c.1648_1662del (p.His550_Glu554del)
c.1594_1608del (p.His532_Glu536del)
c.1555_1569del (p.His519_Glu523del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739077A>CCA402176094ASXL3c.1676A>C (p.His559Pro)
c.1673A>C (p.His558Pro)
c.*797A>C (n.*797A>C)
c.*1332A>C (n.*1332A>C)
c.1885A>C (n.1885A>C)
c.1505A>C (p.His502Pro)
c.1553A>C (p.His518Pro)
c.1649A>C (p.His550Pro)
c.1595A>C (p.His532Pro)
c.1556A>C (p.His519Pro)
gnomAD v4
18g.33739077A>GCA402176095ASXL3c.1676A>G (p.His559Arg)
c.1673A>G (p.His558Arg)
c.*797A>G (n.*797A>G)
c.*1332A>G (n.*1332A>G)
c.1885A>G (n.1885A>G)
c.1505A>G (p.His502Arg)
c.1553A>G (p.His518Arg)
c.1649A>G (p.His550Arg)
c.1595A>G (p.His532Arg)
c.1556A>G (p.His519Arg)
gnomAD v4
18g.33739077A>TCA402176096ASXL3c.1676A>T (p.His559Leu)
c.1673A>T (p.His558Leu)
c.*797A>T (n.*797A>T)
c.*1332A>T (n.*1332A>T)
c.1885A>T (n.1885A>T)
c.1505A>T (p.His502Leu)
c.1553A>T (p.His518Leu)
c.1649A>T (p.His550Leu)
c.1595A>T (p.His532Leu)
c.1556A>T (p.His519Leu)
18g.33739078T>ACA402176097ASXL3c.1677T>A (p.His559Gln)
c.1674T>A (p.His558Gln)
c.*798T>A (n.*798T>A)
c.*1333T>A (n.*1333T>A)
c.1886T>A (n.1886T>A)
c.1506T>A (p.His502Gln)
c.1554T>A (p.His518Gln)
c.1650T>A (p.His550Gln)
c.1596T>A (p.His532Gln)
c.1557T>A (p.His519Gln)
18g.33739078T>CCA503768837ASXL3c.1677T>C (p.His559=)
c.1674T>C (p.His558=)
c.*798T>C (n.*798T>C)
c.*1333T>C (n.*1333T>C)
c.1886T>C (n.1886T>C)
c.1506T>C (p.His502=)
c.1554T>C (p.His518=)
c.1650T>C (p.His550=)
c.1596T>C (p.His532=)
c.1557T>C (p.His519=)
18g.33739078T>GCA402176098ASXL3c.1677T>G (p.His559Gln)
c.1674T>G (p.His558Gln)
c.*798T>G (n.*798T>G)
c.*1333T>G (n.*1333T>G)
c.1886T>G (n.1886T>G)
c.1506T>G (p.His502Gln)
c.1554T>G (p.His518Gln)
c.1650T>G (p.His550Gln)
c.1596T>G (p.His532Gln)
c.1557T>G (p.His519Gln)
18g.33739079A>CCA402176099ASXL3c.1678A>C (p.Lys560Gln)
c.1675A>C (p.Lys559Gln)
c.*799A>C (n.*799A>C)
c.*1334A>C (n.*1334A>C)
c.1887A>C (n.1887A>C)
c.1507A>C (p.Lys503Gln)
c.1555A>C (p.Lys519Gln)
c.1651A>C (p.Lys551Gln)
c.1597A>C (p.Lys533Gln)
c.1558A>C (p.Lys520Gln)
18g.33739079A>GCA402176100ASXL3c.1678A>G (p.Lys560Glu)
c.1675A>G (p.Lys559Glu)
c.*799A>G (n.*799A>G)
c.*1334A>G (n.*1334A>G)
c.1887A>G (n.1887A>G)
c.1507A>G (p.Lys503Glu)
c.1555A>G (p.Lys519Glu)
c.1651A>G (p.Lys551Glu)
c.1597A>G (p.Lys533Glu)
c.1558A>G (p.Lys520Glu)
18g.33739079A>TCA402176101ASXL3c.1678A>T (p.Lys560Ter)
c.1675A>T (p.Lys559Ter)
c.*799A>T (n.*799A>T)
c.*1334A>T (n.*1334A>T)
c.1887A>T (n.1887A>T)
c.1507A>T (p.Lys503Ter)
c.1555A>T (p.Lys519Ter)
c.1651A>T (p.Lys551Ter)
c.1597A>T (p.Lys533Ter)
c.1558A>T (p.Lys520Ter)
18g.33739080A>CCA402176102ASXL3c.1679A>C (p.Lys560Thr)
c.1676A>C (p.Lys559Thr)
c.*800A>C (n.*800A>C)
c.*1335A>C (n.*1335A>C)
c.1888A>C (n.1888A>C)
c.1508A>C (p.Lys503Thr)
c.1556A>C (p.Lys519Thr)
c.1652A>C (p.Lys551Thr)
c.1598A>C (p.Lys533Thr)
c.1559A>C (p.Lys520Thr)
18g.33739080A>GCA402176103ASXL3c.1679A>G (p.Lys560Arg)
c.1676A>G (p.Lys559Arg)
c.*800A>G (n.*800A>G)
c.*1335A>G (n.*1335A>G)
c.1888A>G (n.1888A>G)
c.1508A>G (p.Lys503Arg)
c.1556A>G (p.Lys519Arg)
c.1652A>G (p.Lys551Arg)
c.1598A>G (p.Lys533Arg)
c.1559A>G (p.Lys520Arg)
gnomAD v4
18g.33739080A>TCA402176104ASXL3c.1679A>T (p.Lys560Met)
c.1676A>T (p.Lys559Met)
c.*800A>T (n.*800A>T)
c.*1335A>T (n.*1335A>T)
c.1888A>T (n.1888A>T)
c.1508A>T (p.Lys503Met)
c.1556A>T (p.Lys519Met)
c.1652A>T (p.Lys551Met)
c.1598A>T (p.Lys533Met)
c.1559A>T (p.Lys520Met)
18g.33739081G>ACA503768840ASXL3c.1680G>A (p.Lys560=)
c.1677G>A (p.Lys559=)
c.*801G>A (n.*801G>A)
c.*1336G>A (n.*1336G>A)
c.1889G>A (n.1889G>A)
c.1509G>A (p.Lys503=)
c.1557G>A (p.Lys519=)
c.1653G>A (p.Lys551=)
c.1599G>A (p.Lys533=)
c.1560G>A (p.Lys520=)
dbSNP gnomAD v2
18g.33739081G>CCA402176105ASXL3c.1680G>C (p.Lys560Asn)
c.1677G>C (p.Lys559Asn)
c.*801G>C (n.*801G>C)
c.*1336G>C (n.*1336G>C)
c.1889G>C (n.1889G>C)
c.1509G>C (p.Lys503Asn)
c.1557G>C (p.Lys519Asn)
c.1653G>C (p.Lys551Asn)
c.1599G>C (p.Lys533Asn)
c.1560G>C (p.Lys520Asn)
18g.33739081G=CA2294855813ASXL3c.1680G= (p.Lys560=)
c.1677G= (p.Lys559=)
c.*801G= (n.*801G=)
c.*1336G= (n.*1336G=)
c.1889G= (n.1889G=)
c.1509G= (p.Lys503=)
c.1557G= (p.Lys519=)
c.1653G= (p.Lys551=)
c.1599G= (p.Lys533=)
c.1560G= (p.Lys520=)
18g.33739081G>TCA402176106ASXL3c.1680G>T (p.Lys560Asn)
c.1677G>T (p.Lys559Asn)
c.*801G>T (n.*801G>T)
c.*1336G>T (n.*1336G>T)
c.1889G>T (n.1889G>T)
c.1509G>T (p.Lys503Asn)
c.1557G>T (p.Lys519Asn)
c.1653G>T (p.Lys551Asn)
c.1599G>T (p.Lys533Asn)
c.1560G>T (p.Lys520Asn)
18g.33739082G>ACA8933792ASXL3c.1681G>A (p.Glu561Lys)
c.1678G>A (p.Glu560Lys)
c.*802G>A (n.*802G>A)
c.*1337G>A (n.*1337G>A)
c.1890G>A (n.1890G>A)
c.1510G>A (p.Glu504Lys)
c.1558G>A (p.Glu520Lys)
c.1654G>A (p.Glu552Lys)
c.1600G>A (p.Glu534Lys)
c.1561G>A (p.Glu521Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739082G>CCA402176107ASXL3c.1681G>C (p.Glu561Gln)
c.1678G>C (p.Glu560Gln)
c.*802G>C (n.*802G>C)
c.*1337G>C (n.*1337G>C)
c.1890G>C (n.1890G>C)
c.1510G>C (p.Glu504Gln)
c.1558G>C (p.Glu520Gln)
c.1654G>C (p.Glu552Gln)
c.1600G>C (p.Glu534Gln)
c.1561G>C (p.Glu521Gln)
18g.33739082G=CA2294855814ASXL3c.1681G= (p.Glu561=)
c.1678G= (p.Glu560=)
c.*802G= (n.*802G=)
c.*1337G= (n.*1337G=)
c.1890G= (n.1890G=)
c.1510G= (p.Glu504=)
c.1558G= (p.Glu520=)
c.1654G= (p.Glu552=)
c.1600G= (p.Glu534=)
c.1561G= (p.Glu521=)
18g.33739082G>TCA402176108ASXL3c.1681G>T (p.Glu561Ter)
c.1678G>T (p.Glu560Ter)
c.*802G>T (n.*802G>T)
c.*1337G>T (n.*1337G>T)
c.1890G>T (n.1890G>T)
c.1510G>T (p.Glu504Ter)
c.1558G>T (p.Glu520Ter)
c.1654G>T (p.Glu552Ter)
c.1600G>T (p.Glu534Ter)
c.1561G>T (p.Glu521Ter)
18g.33739083A>CCA402176109ASXL3c.1682A>C (p.Glu561Ala)
c.1679A>C (p.Glu560Ala)
c.*803A>C (n.*803A>C)
c.*1338A>C (n.*1338A>C)
c.1891A>C (n.1891A>C)
c.1511A>C (p.Glu504Ala)
c.1559A>C (p.Glu520Ala)
c.1655A>C (p.Glu552Ala)
c.1601A>C (p.Glu534Ala)
c.1562A>C (p.Glu521Ala)
18g.33739083A>GCA402176110ASXL3c.1682A>G (p.Glu561Gly)
c.1679A>G (p.Glu560Gly)
c.*803A>G (n.*803A>G)
c.*1338A>G (n.*1338A>G)
c.1891A>G (n.1891A>G)
c.1511A>G (p.Glu504Gly)
c.1559A>G (p.Glu520Gly)
c.1655A>G (p.Glu552Gly)
c.1601A>G (p.Glu534Gly)
c.1562A>G (p.Glu521Gly)
18g.33739083A>TCA402176111ASXL3c.1682A>T (p.Glu561Val)
c.1679A>T (p.Glu560Val)
c.*803A>T (n.*803A>T)
c.*1338A>T (n.*1338A>T)
c.1891A>T (n.1891A>T)
c.1511A>T (p.Glu504Val)
c.1559A>T (p.Glu520Val)
c.1655A>T (p.Glu552Val)
c.1601A>T (p.Glu534Val)
c.1562A>T (p.Glu521Val)
18g.33739084G>ACA503768845ASXL3c.1683G>A (p.Glu561=)
c.1680G>A (p.Glu560=)
c.*804G>A (n.*804G>A)
c.*1339G>A (n.*1339G>A)
c.1892G>A (n.1892G>A)
c.1512G>A (p.Glu504=)
c.1560G>A (p.Glu520=)
c.1656G>A (p.Glu552=)
c.1602G>A (p.Glu534=)
c.1563G>A (p.Glu521=)
gnomAD v4
18g.33739084G>CCA402176112ASXL3c.1683G>C (p.Glu561Asp)
c.1680G>C (p.Glu560Asp)
c.*804G>C (n.*804G>C)
c.*1339G>C (n.*1339G>C)
c.1892G>C (n.1892G>C)
c.1512G>C (p.Glu504Asp)
c.1560G>C (p.Glu520Asp)
c.1656G>C (p.Glu552Asp)
c.1602G>C (p.Glu534Asp)
c.1563G>C (p.Glu521Asp)
18g.33739084G>TCA402176113ASXL3c.1683G>T (p.Glu561Asp)
c.1680G>T (p.Glu560Asp)
c.*804G>T (n.*804G>T)
c.*1339G>T (n.*1339G>T)
c.1892G>T (n.1892G>T)
c.1512G>T (p.Glu504Asp)
c.1560G>T (p.Glu520Asp)
c.1656G>T (p.Glu552Asp)
c.1602G>T (p.Glu534Asp)
c.1563G>T (p.Glu521Asp)
18g.33739085T>ACA402176114ASXL3c.1684T>A (p.Ser562Thr)
c.1681T>A (p.Ser561Thr)
c.*805T>A (n.*805T>A)
c.*1340T>A (n.*1340T>A)
c.1893T>A (n.1893T>A)
c.1513T>A (p.Ser505Thr)
c.1561T>A (p.Ser521Thr)
c.1657T>A (p.Ser553Thr)
c.1603T>A (p.Ser535Thr)
c.1564T>A (p.Ser522Thr)
18g.33739085T>CCA402176115ASXL3c.1684T>C (p.Ser562Pro)
c.1681T>C (p.Ser561Pro)
c.*805T>C (n.*805T>C)
c.*1340T>C (n.*1340T>C)
c.1893T>C (n.1893T>C)
c.1513T>C (p.Ser505Pro)
c.1561T>C (p.Ser521Pro)
c.1657T>C (p.Ser553Pro)
c.1603T>C (p.Ser535Pro)
c.1564T>C (p.Ser522Pro)
18g.33739085T>GCA402176116ASXL3c.1684T>G (p.Ser562Ala)
c.1681T>G (p.Ser561Ala)
c.*805T>G (n.*805T>G)
c.*1340T>G (n.*1340T>G)
c.1893T>G (n.1893T>G)
c.1513T>G (p.Ser505Ala)
c.1561T>G (p.Ser521Ala)
c.1657T>G (p.Ser553Ala)
c.1603T>G (p.Ser535Ala)
c.1564T>G (p.Ser522Ala)
18g.33739086C>ACA353436ASXL3c.1685C>A (p.Ser562Ter)
c.1682C>A (p.Ser561Ter)
c.*806C>A (n.*806C>A)
c.*1341C>A (n.*1341C>A)
c.1894C>A (n.1894C>A)
c.1514C>A (p.Ser505Ter)
c.1562C>A (p.Ser521Ter)
c.1658C>A (p.Ser553Ter)
c.1604C>A (p.Ser535Ter)
c.1565C>A (p.Ser522Ter)
ClinVar dbSNP
18g.33739086C=CA2294855815ASXL3c.1685C= (p.Ser562=)
c.1682C= (p.Ser561=)
c.*806C= (n.*806C=)
c.*1341C= (n.*1341C=)
c.1894C= (n.1894C=)
c.1514C= (p.Ser505=)
c.1562C= (p.Ser521=)
c.1658C= (p.Ser553=)
c.1604C= (p.Ser535=)
c.1565C= (p.Ser522=)
18g.33739086C>GCA402176118ASXL3c.1685C>G (p.Ser562Ter)
c.1682C>G (p.Ser561Ter)
c.*806C>G (n.*806C>G)
c.*1341C>G (n.*1341C>G)
c.1894C>G (n.1894C>G)
c.1514C>G (p.Ser505Ter)
c.1562C>G (p.Ser521Ter)
c.1658C>G (p.Ser553Ter)
c.1604C>G (p.Ser535Ter)
c.1565C>G (p.Ser522Ter)
18g.33739086C>TCA402176117ASXL3c.1685C>T (p.Ser562Leu)
c.1682C>T (p.Ser561Leu)
c.*806C>T (n.*806C>T)
c.*1341C>T (n.*1341C>T)
c.1894C>T (n.1894C>T)
c.1514C>T (p.Ser505Leu)
c.1562C>T (p.Ser521Leu)
c.1658C>T (p.Ser553Leu)
c.1604C>T (p.Ser535Leu)
c.1565C>T (p.Ser522Leu)
18g.33739087A>CCA503768851ASXL3c.1686A>C (p.Ser562=)
c.1683A>C (p.Ser561=)
c.*807A>C (n.*807A>C)
c.*1342A>C (n.*1342A>C)
c.1895A>C (n.1895A>C)
c.1515A>C (p.Ser505=)
c.1563A>C (p.Ser521=)
c.1659A>C (p.Ser553=)
c.1605A>C (p.Ser535=)
c.1566A>C (p.Ser522=)
18g.33739087A>GCA503768853ASXL3c.1686A>G (p.Ser562=)
c.1683A>G (p.Ser561=)
c.*807A>G (n.*807A>G)
c.*1342A>G (n.*1342A>G)
c.1895A>G (n.1895A>G)
c.1515A>G (p.Ser505=)
c.1563A>G (p.Ser521=)
c.1659A>G (p.Ser553=)
c.1605A>G (p.Ser535=)
c.1566A>G (p.Ser522=)
18g.33739087A>TCA503768855ASXL3c.1686A>T (p.Ser562=)
c.1683A>T (p.Ser561=)
c.*807A>T (n.*807A>T)
c.*1342A>T (n.*1342A>T)
c.1895A>T (n.1895A>T)
c.1515A>T (p.Ser505=)
c.1563A>T (p.Ser521=)
c.1659A>T (p.Ser553=)
c.1605A>T (p.Ser535=)
c.1566A>T (p.Ser522=)
18g.33739088G>ACA402176119ASXL3c.1687G>A (p.Glu563Lys)
c.1684G>A (p.Glu562Lys)
c.*808G>A (n.*808G>A)
c.*1343G>A (n.*1343G>A)
c.1896G>A (n.1896G>A)
c.1516G>A (p.Glu506Lys)
c.1564G>A (p.Glu522Lys)
c.1660G>A (p.Glu554Lys)
c.1606G>A (p.Glu536Lys)
c.1567G>A (p.Glu523Lys)
18g.33739088G>CCA402176120ASXL3c.1687G>C (p.Glu563Gln)
c.1684G>C (p.Glu562Gln)
c.*808G>C (n.*808G>C)
c.*1343G>C (n.*1343G>C)
c.1896G>C (n.1896G>C)
c.1516G>C (p.Glu506Gln)
c.1564G>C (p.Glu522Gln)
c.1660G>C (p.Glu554Gln)
c.1606G>C (p.Glu536Gln)
c.1567G>C (p.Glu523Gln)
18g.33739088G>TCA402176121ASXL3c.1687G>T (p.Glu563Ter)
c.1684G>T (p.Glu562Ter)
c.*808G>T (n.*808G>T)
c.*1343G>T (n.*1343G>T)
c.1896G>T (n.1896G>T)
c.1516G>T (p.Glu506Ter)
c.1564G>T (p.Glu522Ter)
c.1660G>T (p.Glu554Ter)
c.1606G>T (p.Glu536Ter)
c.1567G>T (p.Glu523Ter)
18g.33739089A>CCA402176122ASXL3c.1688A>C (p.Glu563Ala)
c.1685A>C (p.Glu562Ala)
c.*809A>C (n.*809A>C)
c.*1344A>C (n.*1344A>C)
c.1897A>C (n.1897A>C)
c.1517A>C (p.Glu506Ala)
c.1565A>C (p.Glu522Ala)
c.1661A>C (p.Glu554Ala)
c.1607A>C (p.Glu536Ala)
c.1568A>C (p.Glu523Ala)
18g.33739089A>GCA402176123ASXL3c.1688A>G (p.Glu563Gly)
c.1685A>G (p.Glu562Gly)
c.*809A>G (n.*809A>G)
c.*1344A>G (n.*1344A>G)
c.1897A>G (n.1897A>G)
c.1517A>G (p.Glu506Gly)
c.1565A>G (p.Glu522Gly)
c.1661A>G (p.Glu554Gly)
c.1607A>G (p.Glu536Gly)
c.1568A>G (p.Glu523Gly)
18g.33739089A>TCA402176124ASXL3c.1688A>T (p.Glu563Val)
c.1685A>T (p.Glu562Val)
c.*809A>T (n.*809A>T)
c.*1344A>T (n.*1344A>T)
c.1897A>T (n.1897A>T)
c.1517A>T (p.Glu506Val)
c.1565A>T (p.Glu522Val)
c.1661A>T (p.Glu554Val)
c.1607A>T (p.Glu536Val)
c.1568A>T (p.Glu523Val)
18g.33739090A>CCA402176125ASXL3c.1689A>C (p.Glu563Asp)
c.1686A>C (p.Glu562Asp)
c.*810A>C (n.*810A>C)
c.*1345A>C (n.*1345A>C)
c.1898A>C (n.1898A>C)
c.1518A>C (p.Glu506Asp)
c.1566A>C (p.Glu522Asp)
c.1662A>C (p.Glu554Asp)
c.1608A>C (p.Glu536Asp)
c.1569A>C (p.Glu523Asp)
18g.33739090A>GCA503768859ASXL3c.1689A>G (p.Glu563=)
c.1686A>G (p.Glu562=)
c.*810A>G (n.*810A>G)
c.*1345A>G (n.*1345A>G)
c.1898A>G (n.1898A>G)
c.1518A>G (p.Glu506=)
c.1566A>G (p.Glu522=)
c.1662A>G (p.Glu554=)
c.1608A>G (p.Glu536=)
c.1569A>G (p.Glu523=)
18g.33739090A>TCA402176126ASXL3c.1689A>T (p.Glu563Asp)
c.1686A>T (p.Glu562Asp)
c.*810A>T (n.*810A>T)
c.*1345A>T (n.*1345A>T)
c.1898A>T (n.1898A>T)
c.1518A>T (p.Glu506Asp)
c.1566A>T (p.Glu522Asp)
c.1662A>T (p.Glu554Asp)
c.1608A>T (p.Glu536Asp)
c.1569A>T (p.Glu523Asp)
18g.33739091A=CA2294855816ASXL3c.1690A= (p.Thr564=)
c.1687A= (p.Thr563=)
c.*811A= (n.*811A=)
c.*1346A= (n.*1346A=)
c.1899A= (n.1899A=)
c.1519A= (p.Thr507=)
c.1567A= (p.Thr523=)
c.1663A= (p.Thr555=)
c.1609A= (p.Thr537=)
c.1570A= (p.Thr524=)
18g.33739091A>CCA402176127ASXL3c.1690A>C (p.Thr564Pro)
c.1687A>C (p.Thr563Pro)
c.*811A>C (n.*811A>C)
c.*1346A>C (n.*1346A>C)
c.1899A>C (n.1899A>C)
c.1519A>C (p.Thr507Pro)
c.1567A>C (p.Thr523Pro)
c.1663A>C (p.Thr555Pro)
c.1609A>C (p.Thr537Pro)
c.1570A>C (p.Thr524Pro)
18g.33739091A>GCA8933793ASXL3c.1690A>G (p.Thr564Ala)
c.1687A>G (p.Thr563Ala)
c.*811A>G (n.*811A>G)
c.*1346A>G (n.*1346A>G)
c.1899A>G (n.1899A>G)
c.1519A>G (p.Thr507Ala)
c.1567A>G (p.Thr523Ala)
c.1663A>G (p.Thr555Ala)
c.1609A>G (p.Thr537Ala)
c.1570A>G (p.Thr524Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739091A>TCA402176128ASXL3c.1690A>T (p.Thr564Ser)
c.1687A>T (p.Thr563Ser)
c.*811A>T (n.*811A>T)
c.*1346A>T (n.*1346A>T)
c.1899A>T (n.1899A>T)
c.1519A>T (p.Thr507Ser)
c.1567A>T (p.Thr523Ser)
c.1663A>T (p.Thr555Ser)
c.1609A>T (p.Thr537Ser)
c.1570A>T (p.Thr524Ser)
18g.33739092C>ACA402176129ASXL3c.1691C>A (p.Thr564Asn)
c.1688C>A (p.Thr563Asn)
c.*812C>A (n.*812C>A)
c.*1347C>A (n.*1347C>A)
c.1900C>A (n.1900C>A)
c.1520C>A (p.Thr507Asn)
c.1568C>A (p.Thr523Asn)
c.1664C>A (p.Thr555Asn)
c.1610C>A (p.Thr537Asn)
c.1571C>A (p.Thr524Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739092C=CA2294855817ASXL3c.1691C= (p.Thr564=)
c.1688C= (p.Thr563=)
c.*812C= (n.*812C=)
c.*1347C= (n.*1347C=)
c.1900C= (n.1900C=)
c.1520C= (p.Thr507=)
c.1568C= (p.Thr523=)
c.1664C= (p.Thr555=)
c.1610C= (p.Thr537=)
c.1571C= (p.Thr524=)
18g.33739092C>GCA402176130ASXL3c.1691C>G (p.Thr564Ser)
c.1688C>G (p.Thr563Ser)
c.*812C>G (n.*812C>G)
c.*1347C>G (n.*1347C>G)
c.1900C>G (n.1900C>G)
c.1520C>G (p.Thr507Ser)
c.1568C>G (p.Thr523Ser)
c.1664C>G (p.Thr555Ser)
c.1610C>G (p.Thr537Ser)
c.1571C>G (p.Thr524Ser)
18g.33739092C>TCA8933794ASXL3c.1691C>T (p.Thr564Ile)
c.1688C>T (p.Thr563Ile)
c.*812C>T (n.*812C>T)
c.*1347C>T (n.*1347C>T)
c.1900C>T (n.1900C>T)
c.1520C>T (p.Thr507Ile)
c.1568C>T (p.Thr523Ile)
c.1664C>T (p.Thr555Ile)
c.1610C>T (p.Thr537Ile)
c.1571C>T (p.Thr524Ile)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.33739093T>ACA503768866ASXL3c.1692T>A (p.Thr564=)
c.1689T>A (p.Thr563=)
c.*813T>A (n.*813T>A)
c.*1348T>A (n.*1348T>A)
c.1901T>A (n.1901T>A)
c.1521T>A (p.Thr507=)
c.1569T>A (p.Thr523=)
c.1665T>A (p.Thr555=)
c.1611T>A (p.Thr537=)
c.1572T>A (p.Thr524=)
18g.33739093T>CCA503768867ASXL3c.1692T>C (p.Thr564=)
c.1689T>C (p.Thr563=)
c.*813T>C (n.*813T>C)
c.*1348T>C (n.*1348T>C)
c.1901T>C (n.1901T>C)
c.1521T>C (p.Thr507=)
c.1569T>C (p.Thr523=)
c.1665T>C (p.Thr555=)
c.1611T>C (p.Thr537=)
c.1572T>C (p.Thr524=)
18g.33739093T>GCA8933795ASXL3c.1692T>G (p.Thr564=)
c.1689T>G (p.Thr563=)
c.*813T>G (n.*813T>G)
c.*1348T>G (n.*1348T>G)
c.1901T>G (n.1901T>G)
c.1521T>G (p.Thr507=)
c.1569T>G (p.Thr523=)
c.1665T>G (p.Thr555=)
c.1611T>G (p.Thr537=)
c.1572T>G (p.Thr524=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739093T=CA2294855818ASXL3c.1692T= (p.Thr564=)
c.1689T= (p.Thr563=)
c.*813T= (n.*813T=)
c.*1348T= (n.*1348T=)
c.1901T= (n.1901T=)
c.1521T= (p.Thr507=)
c.1569T= (p.Thr523=)
c.1665T= (p.Thr555=)
c.1611T= (p.Thr537=)
c.1572T= (p.Thr524=)
18g.33739094G>ACA297786913ASXL3c.1693G>A (p.Ala565Thr)
c.1690G>A (p.Ala564Thr)
c.*814G>A (n.*814G>A)
c.*1349G>A (n.*1349G>A)
c.1902G>A (n.1902G>A)
c.1522G>A (p.Ala508Thr)
c.1570G>A (p.Ala524Thr)
c.1666G>A (p.Ala556Thr)
c.1612G>A (p.Ala538Thr)
c.1573G>A (p.Ala525Thr)
dbSNP
18g.33739094G>CCA402176131ASXL3c.1693G>C (p.Ala565Pro)
c.1690G>C (p.Ala564Pro)
c.*814G>C (n.*814G>C)
c.*1349G>C (n.*1349G>C)
c.1902G>C (n.1902G>C)
c.1522G>C (p.Ala508Pro)
c.1570G>C (p.Ala524Pro)
c.1666G>C (p.Ala556Pro)
c.1612G>C (p.Ala538Pro)
c.1573G>C (p.Ala525Pro)
18g.33739094G=CA2294855819ASXL3c.1693G= (p.Ala565=)
c.1690G= (p.Ala564=)
c.*814G= (n.*814G=)
c.*1349G= (n.*1349G=)
c.1902G= (n.1902G=)
c.1522G= (p.Ala508=)
c.1570G= (p.Ala524=)
c.1666G= (p.Ala556=)
c.1612G= (p.Ala538=)
c.1573G= (p.Ala525=)
18g.33739094G>TCA402176132ASXL3c.1693G>T (p.Ala565Ser)
c.1690G>T (p.Ala564Ser)
c.*814G>T (n.*814G>T)
c.*1349G>T (n.*1349G>T)
c.1902G>T (n.1902G>T)
c.1522G>T (p.Ala508Ser)
c.1570G>T (p.Ala524Ser)
c.1666G>T (p.Ala556Ser)
c.1612G>T (p.Ala538Ser)
c.1573G>T (p.Ala525Ser)
gnomAD v4
18g.33739095C>ACA297786917ASXL3c.1694C>A (p.Ala565Glu)
c.1691C>A (p.Ala564Glu)
c.*815C>A (n.*815C>A)
c.*1350C>A (n.*1350C>A)
c.1903C>A (n.1903C>A)
c.1523C>A (p.Ala508Glu)
c.1571C>A (p.Ala524Glu)
c.1667C>A (p.Ala556Glu)
c.1613C>A (p.Ala538Glu)
c.1574C>A (p.Ala525Glu)
dbSNP gnomAD v2 gnomAD v4
18g.33739095C=CA2294855820ASXL3c.1694C= (p.Ala565=)
c.1691C= (p.Ala564=)
c.*815C= (n.*815C=)
c.*1350C= (n.*1350C=)
c.1903C= (n.1903C=)
c.1523C= (p.Ala508=)
c.1571C= (p.Ala524=)
c.1667C= (p.Ala556=)
c.1613C= (p.Ala538=)
c.1574C= (p.Ala525=)
18g.33739095C>GCA402176133ASXL3c.1694C>G (p.Ala565Gly)
c.1691C>G (p.Ala564Gly)
c.*815C>G (n.*815C>G)
c.*1350C>G (n.*1350C>G)
c.1903C>G (n.1903C>G)
c.1523C>G (p.Ala508Gly)
c.1571C>G (p.Ala524Gly)
c.1667C>G (p.Ala556Gly)
c.1613C>G (p.Ala538Gly)
c.1574C>G (p.Ala525Gly)
18g.33739095C>TCA297786947ASXL3c.1694C>T (p.Ala565Val)
c.1691C>T (p.Ala564Val)
c.*815C>T (n.*815C>T)
c.*1350C>T (n.*1350C>T)
c.1903C>T (n.1903C>T)
c.1523C>T (p.Ala508Val)
c.1571C>T (p.Ala524Val)
c.1667C>T (p.Ala556Val)
c.1613C>T (p.Ala538Val)
c.1574C>T (p.Ala525Val)
dbSNP gnomAD v4
18g.33739096A>CCA503768508ASXL3c.1695A>C (p.Ala565=)
c.1692A>C (p.Ala564=)
c.*816A>C (n.*816A>C)
c.*1351A>C (n.*1351A>C)
c.1904A>C (n.1904A>C)
c.1524A>C (p.Ala508=)
c.1572A>C (p.Ala524=)
c.1668A>C (p.Ala556=)
c.1614A>C (p.Ala538=)
c.1575A>C (p.Ala525=)
18g.33739096A>GCA503768509ASXL3c.1695A>G (p.Ala565=)
c.1692A>G (p.Ala564=)
c.*816A>G (n.*816A>G)
c.*1351A>G (n.*1351A>G)
c.1904A>G (n.1904A>G)
c.1524A>G (p.Ala508=)
c.1572A>G (p.Ala524=)
c.1668A>G (p.Ala556=)
c.1614A>G (p.Ala538=)
c.1575A>G (p.Ala525=)
18g.33739096A>TCA503768511ASXL3c.1695A>T (p.Ala565=)
c.1692A>T (p.Ala564=)
c.*816A>T (n.*816A>T)
c.*1351A>T (n.*1351A>T)
c.1904A>T (n.1904A>T)
c.1524A>T (p.Ala508=)
c.1572A>T (p.Ala524=)
c.1668A>T (p.Ala556=)
c.1614A>T (p.Ala538=)
c.1575A>T (p.Ala525=)
18g.33739097G>ACA402176134ASXL3c.1696G>A (p.Val566Ile)
c.1693G>A (p.Val565Ile)
c.*817G>A (n.*817G>A)
c.*1352G>A (n.*1352G>A)
c.1905G>A (n.1905G>A)
c.1525G>A (p.Val509Ile)
c.1573G>A (p.Val525Ile)
c.1669G>A (p.Val557Ile)
c.1615G>A (p.Val539Ile)
c.1576G>A (p.Val526Ile)
gnomAD v4
18g.33739097G>CCA402176135ASXL3c.1696G>C (p.Val566Leu)
c.1693G>C (p.Val565Leu)
c.*817G>C (n.*817G>C)
c.*1352G>C (n.*1352G>C)
c.1905G>C (n.1905G>C)
c.1525G>C (p.Val509Leu)
c.1573G>C (p.Val525Leu)
c.1669G>C (p.Val557Leu)
c.1615G>C (p.Val539Leu)
c.1576G>C (p.Val526Leu)
gnomAD v4 COSMIC COSMIC
18g.33739097G>TCA402176136ASXL3c.1696G>T (p.Val566Leu)
c.1693G>T (p.Val565Leu)
c.*817G>T (n.*817G>T)
c.*1352G>T (n.*1352G>T)
c.1905G>T (n.1905G>T)
c.1525G>T (p.Val509Leu)
c.1573G>T (p.Val525Leu)
c.1669G>T (p.Val557Leu)
c.1615G>T (p.Val539Leu)
c.1576G>T (p.Val526Leu)
18g.33739098T>ACA402176137ASXL3c.1697T>A (p.Val566Glu)
c.1694T>A (p.Val565Glu)
c.*818T>A (n.*818T>A)
c.*1353T>A (n.*1353T>A)
c.1906T>A (n.1906T>A)
c.1526T>A (p.Val509Glu)
c.1574T>A (p.Val525Glu)
c.1670T>A (p.Val557Glu)
c.1616T>A (p.Val539Glu)
c.1577T>A (p.Val526Glu)
18g.33739098T>CCA402176138ASXL3c.1697T>C (p.Val566Ala)
c.1694T>C (p.Val565Ala)
c.*818T>C (n.*818T>C)
c.*1353T>C (n.*1353T>C)
c.1906T>C (n.1906T>C)
c.1526T>C (p.Val509Ala)
c.1574T>C (p.Val525Ala)
c.1670T>C (p.Val557Ala)
c.1616T>C (p.Val539Ala)
c.1577T>C (p.Val526Ala)
18g.33739098T>GCA402176139ASXL3c.1697T>G (p.Val566Gly)
c.1694T>G (p.Val565Gly)
c.*818T>G (n.*818T>G)
c.*1353T>G (n.*1353T>G)
c.1906T>G (n.1906T>G)
c.1526T>G (p.Val509Gly)
c.1574T>G (p.Val525Gly)
c.1670T>G (p.Val557Gly)
c.1616T>G (p.Val539Gly)
c.1577T>G (p.Val526Gly)
18g.33739098_33739100delinsTAGCA2294855821ASXL3c.1697_1699delinsTAG (p.Val566=)
c.1694_1696delinsTAG (p.Val565=)
c.*818_*820delinsTAG (n.*818_*820delinsTAG)
c.*1353_*1355delinsTAG (n.*1353_*1355delinsTAG)
c.1906_1908delinsTAG (n.1906_1908delinsTAG)
c.1526_1528delinsTAG (p.Val509=)
c.1574_1576delinsTAG (p.Val525=)
c.1670_1672delinsTAG (p.Val557=)
c.1616_1618delinsTAG (p.Val539=)
c.1577_1579delinsTAG (p.Val526=)
18g.33739099A>CCA503768518ASXL3c.1698A>C (p.Val566=)
c.1695A>C (p.Val565=)
c.*819A>C (n.*819A>C)
c.*1354A>C (n.*1354A>C)
c.1907A>C (n.1907A>C)
c.1527A>C (p.Val509=)
c.1575A>C (p.Val525=)
c.1671A>C (p.Val557=)
c.1617A>C (p.Val539=)
c.1578A>C (p.Val526=)
18g.33739099A>GCA503768521ASXL3c.1698A>G (p.Val566=)
c.1695A>G (p.Val565=)
c.*819A>G (n.*819A>G)
c.*1354A>G (n.*1354A>G)
c.1907A>G (n.1907A>G)
c.1527A>G (p.Val509=)
c.1575A>G (p.Val525=)
c.1671A>G (p.Val557=)
c.1617A>G (p.Val539=)
c.1578A>G (p.Val526=)
18g.33739099A>TCA503768522ASXL3c.1698A>T (p.Val566=)
c.1695A>T (p.Val565=)
c.*819A>T (n.*819A>T)
c.*1354A>T (n.*1354A>T)
c.1907A>T (n.1907A>T)
c.1527A>T (p.Val509=)
c.1575A>T (p.Val525=)
c.1671A>T (p.Val557=)
c.1617A>T (p.Val539=)
c.1578A>T (p.Val526=)
18g.33739102_33739103delCA915951350ASXL3c.1701_1702del (p.Glu567AspfsTer20)
c.1698_1699del (p.Glu566AspfsTer20)
c.*822_*823del (n.*822_*823del)
c.*1357_*1358del (n.*1357_*1358del)
c.1910_1911del (n.1910_1911del)
c.1530_1531del (p.Glu510AspfsTer20)
c.1578_1579del (p.Glu526AspfsTer20)
c.1674_1675del (p.Glu558AspfsTer20)
c.1620_1621del (p.Glu540AspfsTer20)
c.1581_1582del (p.Glu527AspfsTer20)
ClinVar dbSNP
18g.33739100G>ACA402176142ASXL3c.1699G>A (p.Glu567Lys)
c.1696G>A (p.Glu566Lys)
c.*820G>A (n.*820G>A)
c.*1355G>A (n.*1355G>A)
c.1908G>A (n.1908G>A)
c.1528G>A (p.Glu510Lys)
c.1576G>A (p.Glu526Lys)
c.1672G>A (p.Glu558Lys)
c.1618G>A (p.Glu540Lys)
c.1579G>A (p.Glu527Lys)
18g.33739100G>CCA402176141ASXL3c.1699G>C (p.Glu567Gln)
c.1696G>C (p.Glu566Gln)
c.*820G>C (n.*820G>C)
c.*1355G>C (n.*1355G>C)
c.1908G>C (n.1908G>C)
c.1528G>C (p.Glu510Gln)
c.1576G>C (p.Glu526Gln)
c.1672G>C (p.Glu558Gln)
c.1618G>C (p.Glu540Gln)
c.1579G>C (p.Glu527Gln)
18g.33739100G>TCA402176140ASXL3c.1699G>T (p.Glu567Ter)
c.1696G>T (p.Glu566Ter)
c.*820G>T (n.*820G>T)
c.*1355G>T (n.*1355G>T)
c.1908G>T (n.1908G>T)
c.1528G>T (p.Glu510Ter)
c.1576G>T (p.Glu526Ter)
c.1672G>T (p.Glu558Ter)
c.1618G>T (p.Glu540Ter)
c.1579G>T (p.Glu527Ter)
18g.33739101A>CCA402176143ASXL3c.1700A>C (p.Glu567Ala)
c.1697A>C (p.Glu566Ala)
c.*821A>C (n.*821A>C)
c.*1356A>C (n.*1356A>C)
c.1909A>C (n.1909A>C)
c.1529A>C (p.Glu510Ala)
c.1577A>C (p.Glu526Ala)
c.1673A>C (p.Glu558Ala)
c.1619A>C (p.Glu540Ala)
c.1580A>C (p.Glu527Ala)
18g.33739101A>GCA402176145ASXL3c.1700A>G (p.Glu567Gly)
c.1697A>G (p.Glu566Gly)
c.*821A>G (n.*821A>G)
c.*1356A>G (n.*1356A>G)
c.1909A>G (n.1909A>G)
c.1529A>G (p.Glu510Gly)
c.1577A>G (p.Glu526Gly)
c.1673A>G (p.Glu558Gly)
c.1619A>G (p.Glu540Gly)
c.1580A>G (p.Glu527Gly)
18g.33739101A>TCA402176144ASXL3c.1700A>T (p.Glu567Val)
c.1697A>T (p.Glu566Val)
c.*821A>T (n.*821A>T)
c.*1356A>T (n.*1356A>T)
c.1909A>T (n.1909A>T)
c.1529A>T (p.Glu510Val)
c.1577A>T (p.Glu526Val)
c.1673A>T (p.Glu558Val)
c.1619A>T (p.Glu540Val)
c.1580A>T (p.Glu527Val)
18g.33739102G>ACA503768523ASXL3c.1701G>A (p.Glu567=)
c.1698G>A (p.Glu566=)
c.*822G>A (n.*822G>A)
c.*1357G>A (n.*1357G>A)
c.1910G>A (n.1910G>A)
c.1530G>A (p.Glu510=)
c.1578G>A (p.Glu526=)
c.1674G>A (p.Glu558=)
c.1620G>A (p.Glu540=)
c.1581G>A (p.Glu527=)
gnomAD v4
18g.33739102G>CCA402176146ASXL3c.1701G>C (p.Glu567Asp)
c.1698G>C (p.Glu566Asp)
c.*822G>C (n.*822G>C)
c.*1357G>C (n.*1357G>C)
c.1910G>C (n.1910G>C)
c.1530G>C (p.Glu510Asp)
c.1578G>C (p.Glu526Asp)
c.1674G>C (p.Glu558Asp)
c.1620G>C (p.Glu540Asp)
c.1581G>C (p.Glu527Asp)
COSMIC COSMIC
18g.33739102G>TCA402176147ASXL3c.1701G>T (p.Glu567Asp)
c.1698G>T (p.Glu566Asp)
c.*822G>T (n.*822G>T)
c.*1357G>T (n.*1357G>T)
c.1910G>T (n.1910G>T)
c.1530G>T (p.Glu510Asp)
c.1578G>T (p.Glu526Asp)
c.1674G>T (p.Glu558Asp)
c.1620G>T (p.Glu540Asp)
c.1581G>T (p.Glu527Asp)
18g.33739103A>CCA402176148ASXL3c.1702A>C (p.Thr568Pro)
c.1699A>C (p.Thr567Pro)
c.*823A>C (n.*823A>C)
c.*1358A>C (n.*1358A>C)
c.1911A>C (n.1911A>C)
c.1531A>C (p.Thr511Pro)
c.1579A>C (p.Thr527Pro)
c.1675A>C (p.Thr559Pro)
c.1621A>C (p.Thr541Pro)
c.1582A>C (p.Thr528Pro)
18g.33739103A>GCA402176149ASXL3c.1702A>G (p.Thr568Ala)
c.1699A>G (p.Thr567Ala)
c.*823A>G (n.*823A>G)
c.*1358A>G (n.*1358A>G)
c.1911A>G (n.1911A>G)
c.1531A>G (p.Thr511Ala)
c.1579A>G (p.Thr527Ala)
c.1675A>G (p.Thr559Ala)
c.1621A>G (p.Thr541Ala)
c.1582A>G (p.Thr528Ala)
18g.33739103A>TCA402176150ASXL3c.1702A>T (p.Thr568Ser)
c.1699A>T (p.Thr567Ser)
c.*823A>T (n.*823A>T)
c.*1358A>T (n.*1358A>T)
c.1911A>T (n.1911A>T)
c.1531A>T (p.Thr511Ser)
c.1579A>T (p.Thr527Ser)
c.1675A>T (p.Thr559Ser)
c.1621A>T (p.Thr541Ser)
c.1582A>T (p.Thr528Ser)
18g.33739104C>ACA402176151ASXL3c.1703C>A (p.Thr568Asn)
c.1700C>A (p.Thr567Asn)
c.*824C>A (n.*824C>A)
c.*1359C>A (n.*1359C>A)
c.1912C>A (n.1912C>A)
c.1532C>A (p.Thr511Asn)
c.1580C>A (p.Thr527Asn)
c.1676C>A (p.Thr559Asn)
c.1622C>A (p.Thr541Asn)
c.1583C>A (p.Thr528Asn)
18g.33739104C=CA2294855822ASXL3c.1703C= (p.Thr568=)
c.1700C= (p.Thr567=)
c.*824C= (n.*824C=)
c.*1359C= (n.*1359C=)
c.1912C= (n.1912C=)
c.1532C= (p.Thr511=)
c.1580C= (p.Thr527=)
c.1676C= (p.Thr559=)
c.1622C= (p.Thr541=)
c.1583C= (p.Thr528=)
18g.33739104C>GCA402176152ASXL3c.1703C>G (p.Thr568Ser)
c.1700C>G (p.Thr567Ser)
c.*824C>G (n.*824C>G)
c.*1359C>G (n.*1359C>G)
c.1912C>G (n.1912C>G)
c.1532C>G (p.Thr511Ser)
c.1580C>G (p.Thr527Ser)
c.1676C>G (p.Thr559Ser)
c.1622C>G (p.Thr541Ser)
c.1583C>G (p.Thr528Ser)
dbSNP
18g.33739104C>TCA402176153ASXL3c.1703C>T (p.Thr568Ile)
c.1700C>T (p.Thr567Ile)
c.*824C>T (n.*824C>T)
c.*1359C>T (n.*1359C>T)
c.1912C>T (n.1912C>T)
c.1532C>T (p.Thr511Ile)
c.1580C>T (p.Thr527Ile)
c.1676C>T (p.Thr559Ile)
c.1622C>T (p.Thr541Ile)
c.1583C>T (p.Thr528Ile)
18g.33739105C>ACA503768530ASXL3c.1704C>A (p.Thr568=)
c.1701C>A (p.Thr567=)
c.*825C>A (n.*825C>A)
c.*1360C>A (n.*1360C>A)
c.1913C>A (n.1913C>A)
c.1533C>A (p.Thr511=)
c.1581C>A (p.Thr527=)
c.1677C>A (p.Thr559=)
c.1623C>A (p.Thr541=)
c.1584C>A (p.Thr528=)
dbSNP gnomAD v3 gnomAD v4
18g.33739105C=CA2294855823ASXL3c.1704C= (p.Thr568=)
c.1701C= (p.Thr567=)
c.*825C= (n.*825C=)
c.*1360C= (n.*1360C=)
c.1913C= (n.1913C=)
c.1533C= (p.Thr511=)
c.1581C= (p.Thr527=)
c.1677C= (p.Thr559=)
c.1623C= (p.Thr541=)
c.1584C= (p.Thr528=)
18g.33739105C>GCA503768532ASXL3c.1704C>G (p.Thr568=)
c.1701C>G (p.Thr567=)
c.*825C>G (n.*825C>G)
c.*1360C>G (n.*1360C>G)
c.1913C>G (n.1913C>G)
c.1533C>G (p.Thr511=)
c.1581C>G (p.Thr527=)
c.1677C>G (p.Thr559=)
c.1623C>G (p.Thr541=)
c.1584C>G (p.Thr528=)
18g.33739105C>TCA503768528ASXL3c.1704C>T (p.Thr568=)
c.1701C>T (p.Thr567=)
c.*825C>T (n.*825C>T)
c.*1360C>T (n.*1360C>T)
c.1913C>T (n.1913C>T)
c.1533C>T (p.Thr511=)
c.1581C>T (p.Thr527=)
c.1677C>T (p.Thr559=)
c.1623C>T (p.Thr541=)
c.1584C>T (p.Thr528=)
18g.33739106A>CCA402176154ASXL3c.1705A>C (p.Ser569Arg)
c.1702A>C (p.Ser568Arg)
c.*826A>C (n.*826A>C)
c.*1361A>C (n.*1361A>C)
c.1914A>C (n.1914A>C)
c.1534A>C (p.Ser512Arg)
c.1582A>C (p.Ser528Arg)
c.1678A>C (p.Ser560Arg)
c.1624A>C (p.Ser542Arg)
c.1585A>C (p.Ser529Arg)
18g.33739106A>GCA402176155ASXL3c.1705A>G (p.Ser569Gly)
c.1702A>G (p.Ser568Gly)
c.*826A>G (n.*826A>G)
c.*1361A>G (n.*1361A>G)
c.1914A>G (n.1914A>G)
c.1534A>G (p.Ser512Gly)
c.1582A>G (p.Ser528Gly)
c.1678A>G (p.Ser560Gly)
c.1624A>G (p.Ser542Gly)
c.1585A>G (p.Ser529Gly)
18g.33739106A>TCA402176156ASXL3c.1705A>T (p.Ser569Cys)
c.1702A>T (p.Ser568Cys)
c.*826A>T (n.*826A>T)
c.*1361A>T (n.*1361A>T)
c.1914A>T (n.1914A>T)
c.1534A>T (p.Ser512Cys)
c.1582A>T (p.Ser528Cys)
c.1678A>T (p.Ser560Cys)
c.1624A>T (p.Ser542Cys)
c.1585A>T (p.Ser529Cys)
18g.33739107G>ACA402176158ASXL3c.1706G>A (p.Ser569Asn)
c.1703G>A (p.Ser568Asn)
c.*827G>A (n.*827G>A)
c.*1362G>A (n.*1362G>A)
c.1915G>A (n.1915G>A)
c.1535G>A (p.Ser512Asn)
c.1583G>A (p.Ser528Asn)
c.1679G>A (p.Ser560Asn)
c.1625G>A (p.Ser542Asn)
c.1586G>A (p.Ser529Asn)
18g.33739107G>CCA8933796ASXL3c.1706G>C (p.Ser569Thr)
c.1703G>C (p.Ser568Thr)
c.*827G>C (n.*827G>C)
c.*1362G>C (n.*1362G>C)
c.1915G>C (n.1915G>C)
c.1535G>C (p.Ser512Thr)
c.1583G>C (p.Ser528Thr)
c.1679G>C (p.Ser560Thr)
c.1625G>C (p.Ser542Thr)
c.1586G>C (p.Ser529Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739107G=CA2294855824ASXL3c.1706G= (p.Ser569=)
c.1703G= (p.Ser568=)
c.*827G= (n.*827G=)
c.*1362G= (n.*1362G=)
c.1915G= (n.1915G=)
c.1535G= (p.Ser512=)
c.1583G= (p.Ser528=)
c.1679G= (p.Ser560=)
c.1625G= (p.Ser542=)
c.1586G= (p.Ser529=)
18g.33739107G>TCA402176157ASXL3c.1706G>T (p.Ser569Ile)
c.1703G>T (p.Ser568Ile)
c.*827G>T (n.*827G>T)
c.*1362G>T (n.*1362G>T)
c.1915G>T (n.1915G>T)
c.1535G>T (p.Ser512Ile)
c.1583G>T (p.Ser528Ile)
c.1679G>T (p.Ser560Ile)
c.1625G>T (p.Ser542Ile)
c.1586G>T (p.Ser529Ile)
18g.33739107_33739108insGCTCCA2521101698ASXL3c.1706_1707insGCTC (p.Ser569ArgfsTer20)
c.1703_1704insGCTC (p.Ser568ArgfsTer20)
c.*827_*828insGCTC (n.*827_*828insGCTC)
c.*1362_*1363insGCTC (n.*1362_*1363insGCTC)
c.1915_1916insGCTC (n.1915_1916insGCTC)
c.1535_1536insGCTC (p.Ser512ArgfsTer20)
c.1583_1584insGCTC (p.Ser528ArgfsTer20)
c.1679_1680insGCTC (p.Ser560ArgfsTer20)
c.1625_1626insGCTC (p.Ser542ArgfsTer20)
c.1586_1587insGCTC (p.Ser529ArgfsTer20)
18g.33739108T>ACA402176159ASXL3c.1707T>A (p.Ser569Arg)
c.1704T>A (p.Ser568Arg)
c.*828T>A (n.*828T>A)
c.*1363T>A (n.*1363T>A)
c.1916T>A (n.1916T>A)
c.1536T>A (p.Ser512Arg)
c.1584T>A (p.Ser528Arg)
c.1680T>A (p.Ser560Arg)
c.1626T>A (p.Ser542Arg)
c.1587T>A (p.Ser529Arg)
18g.33739108T>CCA503768535ASXL3c.1707T>C (p.Ser569=)
c.1704T>C (p.Ser568=)
c.*828T>C (n.*828T>C)
c.*1363T>C (n.*1363T>C)
c.1916T>C (n.1916T>C)
c.1536T>C (p.Ser512=)
c.1584T>C (p.Ser528=)
c.1680T>C (p.Ser560=)
c.1626T>C (p.Ser542=)
c.1587T>C (p.Ser529=)
18g.33739108T>GCA402176160ASXL3c.1707T>G (p.Ser569Arg)
c.1704T>G (p.Ser568Arg)
c.*828T>G (n.*828T>G)
c.*1363T>G (n.*1363T>G)
c.1916T>G (n.1916T>G)
c.1536T>G (p.Ser512Arg)
c.1584T>G (p.Ser528Arg)
c.1680T>G (p.Ser560Arg)
c.1626T>G (p.Ser542Arg)
c.1587T>G (p.Ser529Arg)
18g.33739109A=CA2294855825ASXL3c.1708A= (p.Thr570=)
c.1705A= (p.Thr569=)
c.*829A= (n.*829A=)
c.*1364A= (n.*1364A=)
c.1917A= (n.1917A=)
c.1537A= (p.Thr513=)
c.1585A= (p.Thr529=)
c.1681A= (p.Thr561=)
c.1627A= (p.Thr543=)
c.1588A= (p.Thr530=)
18g.33739109A>CCA402176161ASXL3c.1708A>C (p.Thr570Pro)
c.1705A>C (p.Thr569Pro)
c.*829A>C (n.*829A>C)
c.*1364A>C (n.*1364A>C)
c.1917A>C (n.1917A>C)
c.1537A>C (p.Thr513Pro)
c.1585A>C (p.Thr529Pro)
c.1681A>C (p.Thr561Pro)
c.1627A>C (p.Thr543Pro)
c.1588A>C (p.Thr530Pro)
18g.33739109A>GCA402176162ASXL3c.1708A>G (p.Thr570Ala)
c.1705A>G (p.Thr569Ala)
c.*829A>G (n.*829A>G)
c.*1364A>G (n.*1364A>G)
c.1917A>G (n.1917A>G)
c.1537A>G (p.Thr513Ala)
c.1585A>G (p.Thr529Ala)
c.1681A>G (p.Thr561Ala)
c.1627A>G (p.Thr543Ala)
c.1588A>G (p.Thr530Ala)
18g.33739109A>TCA8933797ASXL3c.1708A>T (p.Thr570Ser)
c.1705A>T (p.Thr569Ser)
c.*829A>T (n.*829A>T)
c.*1364A>T (n.*1364A>T)
c.1917A>T (n.1917A>T)
c.1537A>T (p.Thr513Ser)
c.1585A>T (p.Thr529Ser)
c.1681A>T (p.Thr561Ser)
c.1627A>T (p.Thr543Ser)
c.1588A>T (p.Thr530Ser)
dbSNP ExAC gnomAD v2
18g.33739109_33739110delinsACCA2294855826ASXL3c.1708_1709delinsAC (p.Thr570=)
c.1705_1706delinsAC (p.Thr569=)
c.*829_*830delinsAC (n.*829_*830delinsAC)
c.*1364_*1365delinsAC (n.*1364_*1365delinsAC)
c.1917_1918delinsAC (n.1917_1918delinsAC)
c.1537_1538delinsAC (p.Thr513=)
c.1585_1586delinsAC (p.Thr529=)
c.1681_1682delinsAC (p.Thr561=)
c.1627_1628delinsAC (p.Thr543=)
c.1588_1589delinsAC (p.Thr530=)
18g.33739110C>ACA8933798ASXL3c.1709C>A (p.Thr570Asn)
c.1706C>A (p.Thr569Asn)
c.*830C>A (n.*830C>A)
c.*1365C>A (n.*1365C>A)
c.1918C>A (n.1918C>A)
c.1538C>A (p.Thr513Asn)
c.1586C>A (p.Thr529Asn)
c.1682C>A (p.Thr561Asn)
c.1628C>A (p.Thr543Asn)
c.1589C>A (p.Thr530Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739110C=CA2294855827ASXL3c.1709C= (p.Thr570=)
c.1706C= (p.Thr569=)
c.*830C= (n.*830C=)
c.*1365C= (n.*1365C=)
c.1918C= (n.1918C=)
c.1538C= (p.Thr513=)
c.1586C= (p.Thr529=)
c.1682C= (p.Thr561=)
c.1628C= (p.Thr543=)
c.1589C= (p.Thr530=)
18g.33739110C>GCA402176163ASXL3c.1709C>G (p.Thr570Ser)
c.1706C>G (p.Thr569Ser)
c.*830C>G (n.*830C>G)
c.*1365C>G (n.*1365C>G)
c.1918C>G (n.1918C>G)
c.1538C>G (p.Thr513Ser)
c.1586C>G (p.Thr529Ser)
c.1682C>G (p.Thr561Ser)
c.1628C>G (p.Thr543Ser)
c.1589C>G (p.Thr530Ser)
18g.33739110C>TCA402176164ASXL3c.1709C>T (p.Thr570Ile)
c.1706C>T (p.Thr569Ile)
c.*830C>T (n.*830C>T)
c.*1365C>T (n.*1365C>T)
c.1918C>T (n.1918C>T)
c.1538C>T (p.Thr513Ile)
c.1586C>T (p.Thr529Ile)
c.1682C>T (p.Thr561Ile)
c.1628C>T (p.Thr543Ile)
c.1589C>T (p.Thr530Ile)
COSMIC COSMIC
18g.33739114delCA919961547ASXL3c.1713del (p.Ile573Ter)
c.1710del (p.Ile572Ter)
c.*834del (n.*834del)
c.*1369del (n.*1369del)
c.1922del (n.1922del)
c.1542del (p.Ile516Ter)
c.1590del (p.Ile532Ter)
c.1686del (p.Ile564Ter)
c.1632del (p.Ile546Ter)
c.1593del (p.Ile533Ter)
dbSNP
18g.33739111C>ACA503768539ASXL3c.1710C>A (p.Thr570=)
c.1707C>A (p.Thr569=)
c.*831C>A (n.*831C>A)
c.*1366C>A (n.*1366C>A)
c.1919C>A (n.1919C>A)
c.1539C>A (p.Thr513=)
c.1587C>A (p.Thr529=)
c.1683C>A (p.Thr561=)
c.1629C>A (p.Thr543=)
c.1590C>A (p.Thr530=)
dbSNP
18g.33739111C=CA2294855828ASXL3c.1710C= (p.Thr570=)
c.1707C= (p.Thr569=)
c.*831C= (n.*831C=)
c.*1366C= (n.*1366C=)
c.1919C= (n.1919C=)
c.1539C= (p.Thr513=)
c.1587C= (p.Thr529=)
c.1683C= (p.Thr561=)
c.1629C= (p.Thr543=)
c.1590C= (p.Thr530=)
18g.33739111C>GCA503768540ASXL3c.1710C>G (p.Thr570=)
c.1707C>G (p.Thr569=)
c.*831C>G (n.*831C>G)
c.*1366C>G (n.*1366C>G)
c.1919C>G (n.1919C>G)
c.1539C>G (p.Thr513=)
c.1587C>G (p.Thr529=)
c.1683C>G (p.Thr561=)
c.1629C>G (p.Thr543=)
c.1590C>G (p.Thr530=)
18g.33739111C>TCA207793ASXL3c.1710C>T (p.Thr570=)
c.1707C>T (p.Thr569=)
c.*831C>T (n.*831C>T)
c.*1366C>T (n.*1366C>T)
c.1919C>T (n.1919C>T)
c.1539C>T (p.Thr513=)
c.1587C>T (p.Thr529=)
c.1683C>T (p.Thr561=)
c.1629C>T (p.Thr543=)
c.1590C>T (p.Thr530=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739112C>ACA402176165ASXL3c.1711C>A (p.Pro571Thr)
c.1708C>A (p.Pro570Thr)
c.*832C>A (n.*832C>A)
c.*1367C>A (n.*1367C>A)
c.1920C>A (n.1920C>A)
c.1540C>A (p.Pro514Thr)
c.1588C>A (p.Pro530Thr)
c.1684C>A (p.Pro562Thr)
c.1630C>A (p.Pro544Thr)
c.1591C>A (p.Pro531Thr)
18g.33739112C>GCA402176166ASXL3c.1711C>G (p.Pro571Ala)
c.1708C>G (p.Pro570Ala)
c.*832C>G (n.*832C>G)
c.*1367C>G (n.*1367C>G)
c.1920C>G (n.1920C>G)
c.1540C>G (p.Pro514Ala)
c.1588C>G (p.Pro530Ala)
c.1684C>G (p.Pro562Ala)
c.1630C>G (p.Pro544Ala)
c.1591C>G (p.Pro531Ala)
18g.33739112C>TCA402176167ASXL3c.1711C>T (p.Pro571Ser)
c.1708C>T (p.Pro570Ser)
c.*832C>T (n.*832C>T)
c.*1367C>T (n.*1367C>T)
c.1920C>T (n.1920C>T)
c.1540C>T (p.Pro514Ser)
c.1588C>T (p.Pro530Ser)
c.1684C>T (p.Pro562Ser)
c.1630C>T (p.Pro544Ser)
c.1591C>T (p.Pro531Ser)
18g.33739113C>ACA402176169ASXL3c.1712C>A (p.Pro571His)
c.1709C>A (p.Pro570His)
c.*833C>A (n.*833C>A)
c.*1368C>A (n.*1368C>A)
c.1921C>A (n.1921C>A)
c.1541C>A (p.Pro514His)
c.1589C>A (p.Pro530His)
c.1685C>A (p.Pro562His)
c.1631C>A (p.Pro544His)
c.1592C>A (p.Pro531His)
18g.33739113C=CA2294855829ASXL3c.1712C= (p.Pro571=)
c.1709C= (p.Pro570=)
c.*833C= (n.*833C=)
c.*1368C= (n.*1368C=)
c.1921C= (n.1921C=)
c.1541C= (p.Pro514=)
c.1589C= (p.Pro530=)
c.1685C= (p.Pro562=)
c.1631C= (p.Pro544=)
c.1592C= (p.Pro531=)
18g.33739113C>GCA402176168ASXL3c.1712C>G (p.Pro571Arg)
c.1709C>G (p.Pro570Arg)
c.*833C>G (n.*833C>G)
c.*1368C>G (n.*1368C>G)
c.1921C>G (n.1921C>G)
c.1541C>G (p.Pro514Arg)
c.1589C>G (p.Pro530Arg)
c.1685C>G (p.Pro562Arg)
c.1631C>G (p.Pro544Arg)
c.1592C>G (p.Pro531Arg)
18g.33739113C>TCA8933799ASXL3c.1712C>T (p.Pro571Leu)
c.1709C>T (p.Pro570Leu)
c.*833C>T (n.*833C>T)
c.*1368C>T (n.*1368C>T)
c.1921C>T (n.1921C>T)
c.1541C>T (p.Pro514Leu)
c.1589C>T (p.Pro530Leu)
c.1685C>T (p.Pro562Leu)
c.1631C>T (p.Pro544Leu)
c.1592C>T (p.Pro531Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739114C>ACA503768547ASXL3c.1713C>A (p.Pro571=)
c.1710C>A (p.Pro570=)
c.*834C>A (n.*834C>A)
c.*1369C>A (n.*1369C>A)
c.1922C>A (n.1922C>A)
c.1542C>A (p.Pro514=)
c.1590C>A (p.Pro530=)
c.1686C>A (p.Pro562=)
c.1632C>A (p.Pro544=)
c.1593C>A (p.Pro531=)
dbSNP gnomAD v2 gnomAD v4
18g.33739114C=CA2294855830ASXL3c.1713C= (p.Pro571=)
c.1710C= (p.Pro570=)
c.*834C= (n.*834C=)
c.*1369C= (n.*1369C=)
c.1922C= (n.1922C=)
c.1542C= (p.Pro514=)
c.1590C= (p.Pro530=)
c.1686C= (p.Pro562=)
c.1632C= (p.Pro544=)
c.1593C= (p.Pro531=)
18g.33739114C>GCA503768548ASXL3c.1713C>G (p.Pro571=)
c.1710C>G (p.Pro570=)
c.*834C>G (n.*834C>G)
c.*1369C>G (n.*1369C>G)
c.1922C>G (n.1922C>G)
c.1542C>G (p.Pro514=)
c.1590C>G (p.Pro530=)
c.1686C>G (p.Pro562=)
c.1632C>G (p.Pro544=)
c.1593C>G (p.Pro531=)
18g.33739114C>TCA503768549ASXL3c.1713C>T (p.Pro571=)
c.1710C>T (p.Pro570=)
c.*834C>T (n.*834C>T)
c.*1369C>T (n.*1369C>T)
c.1922C>T (n.1922C>T)
c.1542C>T (p.Pro514=)
c.1590C>T (p.Pro530=)
c.1686C>T (p.Pro562=)
c.1632C>T (p.Pro544=)
c.1593C>T (p.Pro531=)
18g.33739115A=CA2294855831ASXL3c.1714A= (p.Lys572=)
c.1711A= (p.Lys571=)
c.*835A= (n.*835A=)
c.*1370A= (n.*1370A=)
c.1923A= (n.1923A=)
c.1543A= (p.Lys515=)
c.1591A= (p.Lys531=)
c.1687A= (p.Lys563=)
c.1633A= (p.Lys545=)
c.1594A= (p.Lys532=)
18g.33739115A>CCA402176170ASXL3c.1714A>C (p.Lys572Gln)
c.1711A>C (p.Lys571Gln)
c.*835A>C (n.*835A>C)
c.*1370A>C (n.*1370A>C)
c.1923A>C (n.1923A>C)
c.1543A>C (p.Lys515Gln)
c.1591A>C (p.Lys531Gln)
c.1687A>C (p.Lys563Gln)
c.1633A>C (p.Lys545Gln)
c.1594A>C (p.Lys532Gln)
dbSNP gnomAD v3 gnomAD v4
18g.33739115A>GCA402176171ASXL3c.1714A>G (p.Lys572Glu)
c.1711A>G (p.Lys571Glu)
c.*835A>G (n.*835A>G)
c.*1370A>G (n.*1370A>G)
c.1923A>G (n.1923A>G)
c.1543A>G (p.Lys515Glu)
c.1591A>G (p.Lys531Glu)
c.1687A>G (p.Lys563Glu)
c.1633A>G (p.Lys545Glu)
c.1594A>G (p.Lys532Glu)
18g.33739115A>TCA402176172ASXL3c.1714A>T (p.Lys572Ter)
c.1711A>T (p.Lys571Ter)
c.*835A>T (n.*835A>T)
c.*1370A>T (n.*1370A>T)
c.1923A>T (n.1923A>T)
c.1543A>T (p.Lys515Ter)
c.1591A>T (p.Lys531Ter)
c.1687A>T (p.Lys563Ter)
c.1633A>T (p.Lys545Ter)
c.1594A>T (p.Lys532Ter)
COSMIC COSMIC
18g.33739118delCA2499225133ASXL3c.1717del (p.Ile573Ter)
c.1714del (p.Ile572Ter)
c.*838del (n.*838del)
c.*1373del (n.*1373del)
c.1926del (n.1926del)
c.1546del (p.Ile516Ter)
c.1594del (p.Ile532Ter)
c.1690del (p.Ile564Ter)
c.1636del (p.Ile546Ter)
c.1597del (p.Ile533Ter)
ClinVar dbSNP
18g.33739116A>CCA402176173ASXL3c.1715A>C (p.Lys572Thr)
c.1712A>C (p.Lys571Thr)
c.*836A>C (n.*836A>C)
c.*1371A>C (n.*1371A>C)
c.1924A>C (n.1924A>C)
c.1544A>C (p.Lys515Thr)
c.1592A>C (p.Lys531Thr)
c.1688A>C (p.Lys563Thr)
c.1634A>C (p.Lys545Thr)
c.1595A>C (p.Lys532Thr)
18g.33739116A>GCA402176174ASXL3c.1715A>G (p.Lys572Arg)
c.1712A>G (p.Lys571Arg)
c.*836A>G (n.*836A>G)
c.*1371A>G (n.*1371A>G)
c.1924A>G (n.1924A>G)
c.1544A>G (p.Lys515Arg)
c.1592A>G (p.Lys531Arg)
c.1688A>G (p.Lys563Arg)
c.1634A>G (p.Lys545Arg)
c.1595A>G (p.Lys532Arg)
18g.33739116A>TCA402176175ASXL3c.1715A>T (p.Lys572Ile)
c.1712A>T (p.Lys571Ile)
c.*836A>T (n.*836A>T)
c.*1371A>T (n.*1371A>T)
c.1924A>T (n.1924A>T)
c.1544A>T (p.Lys515Ile)
c.1592A>T (p.Lys531Ile)
c.1688A>T (p.Lys563Ile)
c.1634A>T (p.Lys545Ile)
c.1595A>T (p.Lys532Ile)
18g.33739117A>CCA402176176ASXL3c.1716A>C (p.Lys572Asn)
c.1713A>C (p.Lys571Asn)
c.*837A>C (n.*837A>C)
c.*1372A>C (n.*1372A>C)
c.1925A>C (n.1925A>C)
c.1545A>C (p.Lys515Asn)
c.1593A>C (p.Lys531Asn)
c.1689A>C (p.Lys563Asn)
c.1635A>C (p.Lys545Asn)
c.1596A>C (p.Lys532Asn)
18g.33739117A>GCA503768554ASXL3c.1716A>G (p.Lys572=)
c.1713A>G (p.Lys571=)
c.*837A>G (n.*837A>G)
c.*1372A>G (n.*1372A>G)
c.1925A>G (n.1925A>G)
c.1545A>G (p.Lys515=)
c.1593A>G (p.Lys531=)
c.1689A>G (p.Lys563=)
c.1635A>G (p.Lys545=)
c.1596A>G (p.Lys532=)
18g.33739117A>TCA402176177ASXL3c.1716A>T (p.Lys572Asn)
c.1713A>T (p.Lys571Asn)
c.*837A>T (n.*837A>T)
c.*1372A>T (n.*1372A>T)
c.1925A>T (n.1925A>T)
c.1545A>T (p.Lys515Asn)
c.1593A>T (p.Lys531Asn)
c.1689A>T (p.Lys563Asn)
c.1635A>T (p.Lys545Asn)
c.1596A>T (p.Lys532Asn)
18g.33739117_33739118insCACACCCAACACCA2812055530ASXL3c.1716_1717insCACACCCAACAC (p.Lys572_Ile573insHisThrGlnHis)
c.1713_1714insCACACCCAACAC (p.Lys571_Ile572insHisThrGlnHis)
c.*837_*838insCACACCCAACAC (n.*837_*838insCACACCCAACAC)
c.*1372_*1373insCACACCCAACAC (n.*1372_*1373insCACACCCAACAC)
c.1925_1926insCACACCCAACAC (n.1925_1926insCACACCCAACAC)
c.1545_1546insCACACCCAACAC (p.Lys515_Ile516insHisThrGlnHis)
c.1593_1594insCACACCCAACAC (p.Lys531_Ile532insHisThrGlnHis)
c.1689_1690insCACACCCAACAC (p.Lys563_Ile564insHisThrGlnHis)
c.1635_1636insCACACCCAACAC (p.Lys545_Ile546insHisThrGlnHis)
c.1596_1597insCACACCCAACAC (p.Lys532_Ile533insHisThrGlnHis)
18g.33739118A>CCA402176178ASXL3c.1717A>C (p.Ile573Leu)
c.1714A>C (p.Ile572Leu)
c.*838A>C (n.*838A>C)
c.*1373A>C (n.*1373A>C)
c.1926A>C (n.1926A>C)
c.1546A>C (p.Ile516Leu)
c.1594A>C (p.Ile532Leu)
c.1690A>C (p.Ile564Leu)
c.1636A>C (p.Ile546Leu)
c.1597A>C (p.Ile533Leu)
18g.33739118A>GCA402176179ASXL3c.1717A>G (p.Ile573Val)
c.1714A>G (p.Ile572Val)
c.*838A>G (n.*838A>G)
c.*1373A>G (n.*1373A>G)
c.1926A>G (n.1926A>G)
c.1546A>G (p.Ile516Val)
c.1594A>G (p.Ile532Val)
c.1690A>G (p.Ile564Val)
c.1636A>G (p.Ile546Val)
c.1597A>G (p.Ile533Val)
18g.33739118A>TCA402176180ASXL3c.1717A>T (p.Ile573Leu)
c.1714A>T (p.Ile572Leu)
c.*838A>T (n.*838A>T)
c.*1373A>T (n.*1373A>T)
c.1926A>T (n.1926A>T)
c.1546A>T (p.Ile516Leu)
c.1594A>T (p.Ile532Leu)
c.1690A>T (p.Ile564Leu)
c.1636A>T (p.Ile546Leu)
c.1597A>T (p.Ile533Leu)
18g.33739119T>ACA402176181ASXL3c.1718T>A (p.Ile573Lys)
c.1715T>A (p.Ile572Lys)
c.*839T>A (n.*839T>A)
c.*1374T>A (n.*1374T>A)
c.1927T>A (n.1927T>A)
c.1547T>A (p.Ile516Lys)
c.1595T>A (p.Ile532Lys)
c.1691T>A (p.Ile564Lys)
c.1637T>A (p.Ile546Lys)
c.1598T>A (p.Ile533Lys)
18g.33739119T>CCA8933800ASXL3c.1718T>C (p.Ile573Thr)
c.1715T>C (p.Ile572Thr)
c.*839T>C (n.*839T>C)
c.*1374T>C (n.*1374T>C)
c.1927T>C (n.1927T>C)
c.1547T>C (p.Ile516Thr)
c.1595T>C (p.Ile532Thr)
c.1691T>C (p.Ile564Thr)
c.1637T>C (p.Ile546Thr)
c.1598T>C (p.Ile533Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739119T>GCA402176182ASXL3c.1718T>G (p.Ile573Arg)
c.1715T>G (p.Ile572Arg)
c.*839T>G (n.*839T>G)
c.*1374T>G (n.*1374T>G)
c.1927T>G (n.1927T>G)
c.1547T>G (p.Ile516Arg)
c.1595T>G (p.Ile532Arg)
c.1691T>G (p.Ile564Arg)
c.1637T>G (p.Ile546Arg)
c.1598T>G (p.Ile533Arg)
18g.33739119T=CA2294855832ASXL3c.1718T= (p.Ile573=)
c.1715T= (p.Ile572=)
c.*839T= (n.*839T=)
c.*1374T= (n.*1374T=)
c.1927T= (n.1927T=)
c.1547T= (p.Ile516=)
c.1595T= (p.Ile532=)
c.1691T= (p.Ile564=)
c.1637T= (p.Ile546=)
c.1598T= (p.Ile533=)
18g.33739120A=CA2294855833ASXL3c.1719A= (p.Ile573=)
c.1716A= (p.Ile572=)
c.*840A= (n.*840A=)
c.*1375A= (n.*1375A=)
c.1928A= (n.1928A=)
c.1548A= (p.Ile516=)
c.1596A= (p.Ile532=)
c.1692A= (p.Ile564=)
c.1638A= (p.Ile546=)
c.1599A= (p.Ile533=)
18g.33739120A>CCA503768558ASXL3c.1719A>C (p.Ile573=)
c.1716A>C (p.Ile572=)
c.*840A>C (n.*840A>C)
c.*1375A>C (n.*1375A>C)
c.1928A>C (n.1928A>C)
c.1548A>C (p.Ile516=)
c.1596A>C (p.Ile532=)
c.1692A>C (p.Ile564=)
c.1638A>C (p.Ile546=)
c.1599A>C (p.Ile533=)
18g.33739120A>GCA402176183ASXL3c.1719A>G (p.Ile573Met)
c.1716A>G (p.Ile572Met)
c.*840A>G (n.*840A>G)
c.*1375A>G (n.*1375A>G)
c.1928A>G (n.1928A>G)
c.1548A>G (p.Ile516Met)
c.1596A>G (p.Ile532Met)
c.1692A>G (p.Ile564Met)
c.1638A>G (p.Ile546Met)
c.1599A>G (p.Ile533Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33739120A>TCA503768559ASXL3c.1719A>T (p.Ile573=)
c.1716A>T (p.Ile572=)
c.*840A>T (n.*840A>T)
c.*1375A>T (n.*1375A>T)
c.1928A>T (n.1928A>T)
c.1548A>T (p.Ile516=)
c.1596A>T (p.Ile532=)
c.1692A>T (p.Ile564=)
c.1638A>T (p.Ile546=)
c.1599A>T (p.Ile533=)
18g.33739121A>CCA402176184ASXL3c.1720A>C (p.Lys574Gln)
c.1717A>C (p.Lys573Gln)
c.*841A>C (n.*841A>C)
c.*1376A>C (n.*1376A>C)
c.1929A>C (n.1929A>C)
c.1549A>C (p.Lys517Gln)
c.1597A>C (p.Lys533Gln)
c.1693A>C (p.Lys565Gln)
c.1639A>C (p.Lys547Gln)
c.1600A>C (p.Lys534Gln)
18g.33739121A>GCA402176185ASXL3c.1720A>G (p.Lys574Glu)
c.1717A>G (p.Lys573Glu)
c.*841A>G (n.*841A>G)
c.*1376A>G (n.*1376A>G)
c.1929A>G (n.1929A>G)
c.1549A>G (p.Lys517Glu)
c.1597A>G (p.Lys533Glu)
c.1693A>G (p.Lys565Glu)
c.1639A>G (p.Lys547Glu)
c.1600A>G (p.Lys534Glu)
18g.33739121A>TCA402176186ASXL3c.1720A>T (p.Lys574Ter)
c.1717A>T (p.Lys573Ter)
c.*841A>T (n.*841A>T)
c.*1376A>T (n.*1376A>T)
c.1929A>T (n.1929A>T)
c.1549A>T (p.Lys517Ter)
c.1597A>T (p.Lys533Ter)
c.1693A>T (p.Lys565Ter)
c.1639A>T (p.Lys547Ter)
c.1600A>T (p.Lys534Ter)
18g.33739121_33739122insCCCA2812055531ASXL3c.1720_1721insCC (p.Lys574ThrfsTer8)
c.1717_1718insCC (p.Lys573ThrfsTer8)
c.*841_*842insCC (n.*841_*842insCC)
c.*1376_*1377insCC (n.*1376_*1377insCC)
c.1929_1930insCC (n.1929_1930insCC)
c.1549_1550insCC (p.Lys517ThrfsTer8)
c.1597_1598insCC (p.Lys533ThrfsTer8)
c.1693_1694insCC (p.Lys565ThrfsTer8)
c.1639_1640insCC (p.Lys547ThrfsTer8)
c.1600_1601insCC (p.Lys534ThrfsTer8)
18g.33739122A>CCA402176187ASXL3c.1721A>C (p.Lys574Thr)
c.1718A>C (p.Lys573Thr)
c.*842A>C (n.*842A>C)
c.*1377A>C (n.*1377A>C)
c.1930A>C (n.1930A>C)
c.1550A>C (p.Lys517Thr)
c.1598A>C (p.Lys533Thr)
c.1694A>C (p.Lys565Thr)
c.1640A>C (p.Lys547Thr)
c.1601A>C (p.Lys534Thr)
18g.33739122A>GCA402176188ASXL3c.1721A>G (p.Lys574Arg)
c.1718A>G (p.Lys573Arg)
c.*842A>G (n.*842A>G)
c.*1377A>G (n.*1377A>G)
c.1930A>G (n.1930A>G)
c.1550A>G (p.Lys517Arg)
c.1598A>G (p.Lys533Arg)
c.1694A>G (p.Lys565Arg)
c.1640A>G (p.Lys547Arg)
c.1601A>G (p.Lys534Arg)
18g.33739122A>TCA402176189ASXL3c.1721A>T (p.Lys574Ile)
c.1718A>T (p.Lys573Ile)
c.*842A>T (n.*842A>T)
c.*1377A>T (n.*1377A>T)
c.1930A>T (n.1930A>T)
c.1550A>T (p.Lys517Ile)
c.1598A>T (p.Lys533Ile)
c.1694A>T (p.Lys565Ile)
c.1640A>T (p.Lys547Ile)
c.1601A>T (p.Lys534Ile)
18g.33739123A>CCA402176190ASXL3c.1722A>C (p.Lys574Asn)
c.1719A>C (p.Lys573Asn)
c.*843A>C (n.*843A>C)
c.*1378A>C (n.*1378A>C)
c.1931A>C (n.1931A>C)
c.1551A>C (p.Lys517Asn)
c.1599A>C (p.Lys533Asn)
c.1695A>C (p.Lys565Asn)
c.1641A>C (p.Lys547Asn)
c.1602A>C (p.Lys534Asn)
18g.33739123A>GCA503768563ASXL3c.1722A>G (p.Lys574=)
c.1719A>G (p.Lys573=)
c.*843A>G (n.*843A>G)
c.*1378A>G (n.*1378A>G)
c.1931A>G (n.1931A>G)
c.1551A>G (p.Lys517=)
c.1599A>G (p.Lys533=)
c.1695A>G (p.Lys565=)
c.1641A>G (p.Lys547=)
c.1602A>G (p.Lys534=)
18g.33739123A>TCA402176191ASXL3c.1722A>T (p.Lys574Asn)
c.1719A>T (p.Lys573Asn)
c.*843A>T (n.*843A>T)
c.*1378A>T (n.*1378A>T)
c.1931A>T (n.1931A>T)
c.1551A>T (p.Lys517Asn)
c.1599A>T (p.Lys533Asn)
c.1695A>T (p.Lys565Asn)
c.1641A>T (p.Lys547Asn)
c.1602A>T (p.Lys534Asn)
18g.33739123_33739124insCCAAACACACCCAACCA2812055533ASXL3c.1722_1723insCCAAACACACCCAAC (p.Lys574_Thr575insProAsnThrProAsn)
c.1719_1720insCCAAACACACCCAAC (p.Lys573_Thr574insProAsnThrProAsn)
c.*843_*844insCCAAACACACCCAAC (n.*843_*844insCCAAACACACCCAAC)
c.*1378_*1379insCCAAACACACCCAAC (n.*1378_*1379insCCAAACACACCCAAC)
c.1931_1932insCCAAACACACCCAAC (n.1931_1932insCCAAACACACCCAAC)
c.1551_1552insCCAAACACACCCAAC (p.Lys517_Thr518insProAsnThrProAsn)
c.1599_1600insCCAAACACACCCAAC (p.Lys533_Thr534insProAsnThrProAsn)
c.1695_1696insCCAAACACACCCAAC (p.Lys565_Thr566insProAsnThrProAsn)
c.1641_1642insCCAAACACACCCAAC (p.Lys547_Thr548insProAsnThrProAsn)
c.1602_1603insCCAAACACACCCAAC (p.Lys534_Thr535insProAsnThrProAsn)
18g.33739124A>CCA402176192ASXL3c.1723A>C (p.Thr575Pro)
c.1720A>C (p.Thr574Pro)
c.*844A>C (n.*844A>C)
c.*1379A>C (n.*1379A>C)
c.1932A>C (n.1932A>C)
c.1552A>C (p.Thr518Pro)
c.1600A>C (p.Thr534Pro)
c.1696A>C (p.Thr566Pro)
c.1642A>C (p.Thr548Pro)
c.1603A>C (p.Thr535Pro)
18g.33739124A>GCA402176193ASXL3c.1723A>G (p.Thr575Ala)
c.1720A>G (p.Thr574Ala)
c.*844A>G (n.*844A>G)
c.*1379A>G (n.*1379A>G)
c.1932A>G (n.1932A>G)
c.1552A>G (p.Thr518Ala)
c.1600A>G (p.Thr534Ala)
c.1696A>G (p.Thr566Ala)
c.1642A>G (p.Thr548Ala)
c.1603A>G (p.Thr535Ala)
18g.33739124A>TCA402176194ASXL3c.1723A>T (p.Thr575Ser)
c.1720A>T (p.Thr574Ser)
c.*844A>T (n.*844A>T)
c.*1379A>T (n.*1379A>T)
c.1932A>T (n.1932A>T)
c.1552A>T (p.Thr518Ser)
c.1600A>T (p.Thr534Ser)
c.1696A>T (p.Thr566Ser)
c.1642A>T (p.Thr548Ser)
c.1603A>T (p.Thr535Ser)
18g.33739126_33739127insCACCCAACACACA2812055532ASXL3c.1725_1726insCACCCAACACA (p.Gly576HisfsTer9)
c.1722_1723insCACCCAACACA (p.Gly575HisfsTer9)
c.*846_*847insCACCCAACACA (n.*846_*847insCACCCAACACA)
c.*1381_*1382insCACCCAACACA (n.*1381_*1382insCACCCAACACA)
c.1934_1935insCACCCAACACA (n.1934_1935insCACCCAACACA)
c.1554_1555insCACCCAACACA (p.Gly519HisfsTer9)
c.1602_1603insCACCCAACACA (p.Gly535HisfsTer9)
c.1698_1699insCACCCAACACA (p.Gly567HisfsTer9)
c.1644_1645insCACCCAACACA (p.Gly549HisfsTer9)
c.1605_1606insCACCCAACACA (p.Gly536HisfsTer9)
18g.33739125C>ACA402176195ASXL3c.1724C>A (p.Thr575Lys)
c.1721C>A (p.Thr574Lys)
c.*845C>A (n.*845C>A)
c.*1380C>A (n.*1380C>A)
c.1933C>A (n.1933C>A)
c.1553C>A (p.Thr518Lys)
c.1601C>A (p.Thr534Lys)
c.1697C>A (p.Thr566Lys)
c.1643C>A (p.Thr548Lys)
c.1604C>A (p.Thr535Lys)
18g.33739125C>GCA402176196ASXL3c.1724C>G (p.Thr575Arg)
c.1721C>G (p.Thr574Arg)
c.*845C>G (n.*845C>G)
c.*1380C>G (n.*1380C>G)
c.1933C>G (n.1933C>G)
c.1553C>G (p.Thr518Arg)
c.1601C>G (p.Thr534Arg)
c.1697C>G (p.Thr566Arg)
c.1643C>G (p.Thr548Arg)
c.1604C>G (p.Thr535Arg)
18g.33739125C>TCA402176197ASXL3c.1724C>T (p.Thr575Ile)
c.1721C>T (p.Thr574Ile)
c.*845C>T (n.*845C>T)
c.*1380C>T (n.*1380C>T)
c.1933C>T (n.1933C>T)
c.1553C>T (p.Thr518Ile)
c.1601C>T (p.Thr534Ile)
c.1697C>T (p.Thr566Ile)
c.1643C>T (p.Thr548Ile)
c.1604C>T (p.Thr535Ile)
18g.33739126A>CCA503768573ASXL3c.1725A>C (p.Thr575=)
c.1722A>C (p.Thr574=)
c.*846A>C (n.*846A>C)
c.*1381A>C (n.*1381A>C)
c.1934A>C (n.1934A>C)
c.1554A>C (p.Thr518=)
c.1602A>C (p.Thr534=)
c.1698A>C (p.Thr566=)
c.1644A>C (p.Thr548=)
c.1605A>C (p.Thr535=)
18g.33739126A>GCA503768572ASXL3c.1725A>G (p.Thr575=)
c.1722A>G (p.Thr574=)
c.*846A>G (n.*846A>G)
c.*1381A>G (n.*1381A>G)
c.1934A>G (n.1934A>G)
c.1554A>G (p.Thr518=)
c.1602A>G (p.Thr534=)
c.1698A>G (p.Thr566=)
c.1644A>G (p.Thr548=)
c.1605A>G (p.Thr535=)
18g.33739126A>TCA503768571ASXL3c.1725A>T (p.Thr575=)
c.1722A>T (p.Thr574=)
c.*846A>T (n.*846A>T)
c.*1381A>T (n.*1381A>T)
c.1934A>T (n.1934A>T)
c.1554A>T (p.Thr518=)
c.1602A>T (p.Thr534=)
c.1698A>T (p.Thr566=)
c.1644A>T (p.Thr548=)
c.1605A>T (p.Thr535=)
18g.33739127G>ACA8933801ASXL3c.1726G>A (p.Gly576Arg)
c.1723G>A (p.Gly575Arg)
c.*847G>A (n.*847G>A)
c.*1382G>A (n.*1382G>A)
c.1935G>A (n.1935G>A)
c.1555G>A (p.Gly519Arg)
c.1603G>A (p.Gly535Arg)
c.1699G>A (p.Gly567Arg)
c.1645G>A (p.Gly549Arg)
c.1606G>A (p.Gly536Arg)
dbSNP ExAC gnomAD v2
18g.33739127G>CCA402176199ASXL3c.1726G>C (p.Gly576Arg)
c.1723G>C (p.Gly575Arg)
c.*847G>C (n.*847G>C)
c.*1382G>C (n.*1382G>C)
c.1935G>C (n.1935G>C)
c.1555G>C (p.Gly519Arg)
c.1603G>C (p.Gly535Arg)
c.1699G>C (p.Gly567Arg)
c.1645G>C (p.Gly549Arg)
c.1606G>C (p.Gly536Arg)
18g.33739127G=CA2294855834ASXL3c.1726G= (p.Gly576=)
c.1723G= (p.Gly575=)
c.*847G= (n.*847G=)
c.*1382G= (n.*1382G=)
c.1935G= (n.1935G=)
c.1555G= (p.Gly519=)
c.1603G= (p.Gly535=)
c.1699G= (p.Gly567=)
c.1645G= (p.Gly549=)
c.1606G= (p.Gly536=)
18g.33739127G>TCA402176198ASXL3c.1726G>T (p.Gly576Trp)
c.1723G>T (p.Gly575Trp)
c.*847G>T (n.*847G>T)
c.*1382G>T (n.*1382G>T)
c.1935G>T (n.1935G>T)
c.1555G>T (p.Gly519Trp)
c.1603G>T (p.Gly535Trp)
c.1699G>T (p.Gly567Trp)
c.1645G>T (p.Gly549Trp)
c.1606G>T (p.Gly536Trp)
gnomAD v4
18g.33739128G>ACA402176201ASXL3c.1727G>A (p.Gly576Glu)
c.1724G>A (p.Gly575Glu)
c.*848G>A (n.*848G>A)
c.*1383G>A (n.*1383G>A)
c.1936G>A (n.1936G>A)
c.1556G>A (p.Gly519Glu)
c.1604G>A (p.Gly535Glu)
c.1700G>A (p.Gly567Glu)
c.1646G>A (p.Gly549Glu)
c.1607G>A (p.Gly536Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739128G>CCA402176200ASXL3c.1727G>C (p.Gly576Ala)
c.1724G>C (p.Gly575Ala)
c.*848G>C (n.*848G>C)
c.*1383G>C (n.*1383G>C)
c.1936G>C (n.1936G>C)
c.1556G>C (p.Gly519Ala)
c.1604G>C (p.Gly535Ala)
c.1700G>C (p.Gly567Ala)
c.1646G>C (p.Gly549Ala)
c.1607G>C (p.Gly536Ala)
18g.33739128G=CA2294855835ASXL3c.1727G= (p.Gly576=)
c.1724G= (p.Gly575=)
c.*848G= (n.*848G=)
c.*1383G= (n.*1383G=)
c.1936G= (n.1936G=)
c.1556G= (p.Gly519=)
c.1604G= (p.Gly535=)
c.1700G= (p.Gly567=)
c.1646G= (p.Gly549=)
c.1607G= (p.Gly536=)
18g.33739128G>TCA402176202ASXL3c.1727G>T (p.Gly576Val)
c.1724G>T (p.Gly575Val)
c.*848G>T (n.*848G>T)
c.*1383G>T (n.*1383G>T)
c.1936G>T (n.1936G>T)
c.1556G>T (p.Gly519Val)
c.1604G>T (p.Gly535Val)
c.1700G>T (p.Gly567Val)
c.1646G>T (p.Gly549Val)
c.1607G>T (p.Gly536Val)
dbSNP gnomAD v4
18g.33739129G>ACA503768574ASXL3c.1728G>A (p.Gly576=)
c.1725G>A (p.Gly575=)
c.*849G>A (n.*849G>A)
c.*1384G>A (n.*1384G>A)
c.1937G>A (n.1937G>A)
c.1557G>A (p.Gly519=)
c.1605G>A (p.Gly535=)
c.1701G>A (p.Gly567=)
c.1647G>A (p.Gly549=)
c.1608G>A (p.Gly536=)
gnomAD v4
18g.33739129G>CCA503768576ASXL3c.1728G>C (p.Gly576=)
c.1725G>C (p.Gly575=)
c.*849G>C (n.*849G>C)
c.*1384G>C (n.*1384G>C)
c.1937G>C (n.1937G>C)
c.1557G>C (p.Gly519=)
c.1605G>C (p.Gly535=)
c.1701G>C (p.Gly567=)
c.1647G>C (p.Gly549=)
c.1608G>C (p.Gly536=)
18g.33739129G=CA2294855836ASXL3c.1728G= (p.Gly576=)
c.1725G= (p.Gly575=)
c.*849G= (n.*849G=)
c.*1384G= (n.*1384G=)
c.1937G= (n.1937G=)
c.1557G= (p.Gly519=)
c.1605G= (p.Gly535=)
c.1701G= (p.Gly567=)
c.1647G= (p.Gly549=)
c.1608G= (p.Gly536=)
18g.33739129G>TCA8933802ASXL3c.1728G>T (p.Gly576=)
c.1725G>T (p.Gly575=)
c.*849G>T (n.*849G>T)
c.*1384G>T (n.*1384G>T)
c.1937G>T (n.1937G>T)
c.1557G>T (p.Gly519=)
c.1605G>T (p.Gly535=)
c.1701G>T (p.Gly567=)
c.1647G>T (p.Gly549=)
c.1608G>T (p.Gly536=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739130T>ACA402176204ASXL3c.1729T>A (p.Ser577Thr)
c.1726T>A (p.Ser576Thr)
c.*850T>A (n.*850T>A)
c.*1385T>A (n.*1385T>A)
c.1938T>A (n.1938T>A)
c.1558T>A (p.Ser520Thr)
c.1606T>A (p.Ser536Thr)
c.1702T>A (p.Ser568Thr)
c.1648T>A (p.Ser550Thr)
c.1609T>A (p.Ser537Thr)
18g.33739130T>CCA402176203ASXL3c.1729T>C (p.Ser577Pro)
c.1726T>C (p.Ser576Pro)
c.*850T>C (n.*850T>C)
c.*1385T>C (n.*1385T>C)
c.1938T>C (n.1938T>C)
c.1558T>C (p.Ser520Pro)
c.1606T>C (p.Ser536Pro)
c.1702T>C (p.Ser568Pro)
c.1648T>C (p.Ser550Pro)
c.1609T>C (p.Ser537Pro)
18g.33739130T>GCA8933803ASXL3c.1729T>G (p.Ser577Ala)
c.1726T>G (p.Ser576Ala)
c.*850T>G (n.*850T>G)
c.*1385T>G (n.*1385T>G)
c.1938T>G (n.1938T>G)
c.1558T>G (p.Ser520Ala)
c.1606T>G (p.Ser536Ala)
c.1702T>G (p.Ser568Ala)
c.1648T>G (p.Ser550Ala)
c.1609T>G (p.Ser537Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739130T=CA2294855837ASXL3c.1729T= (p.Ser577=)
c.1726T= (p.Ser576=)
c.*850T= (n.*850T=)
c.*1385T= (n.*1385T=)
c.1938T= (n.1938T=)
c.1558T= (p.Ser520=)
c.1606T= (p.Ser536=)
c.1702T= (p.Ser568=)
c.1648T= (p.Ser550=)
c.1609T= (p.Ser537=)
18g.33739132_33739134delCA2641457188ASXL3c.1731_1733del (p.Ser578del)
c.1728_1730del (p.Ser577del)
c.*852_*854del (n.*852_*854del)
c.*1387_*1389del (n.*1387_*1389del)
c.1940_1942del (n.1940_1942del)
c.1560_1562del (p.Ser521del)
c.1608_1610del (p.Ser537del)
c.1704_1706del (p.Ser569del)
c.1650_1652del (p.Ser551del)
c.1611_1613del (p.Ser538del)
gnomAD v4
18g.33739131C>ACA402176205ASXL3c.1730C>A (p.Ser577Ter)
c.1727C>A (p.Ser576Ter)
c.*851C>A (n.*851C>A)
c.*1386C>A (n.*1386C>A)
c.1939C>A (n.1939C>A)
c.1559C>A (p.Ser520Ter)
c.1607C>A (p.Ser536Ter)
c.1703C>A (p.Ser568Ter)
c.1649C>A (p.Ser550Ter)
c.1610C>A (p.Ser537Ter)
COSMIC COSMIC
18g.33739131C=CA2294855838ASXL3c.1730C= (p.Ser577=)
c.1727C= (p.Ser576=)
c.*851C= (n.*851C=)
c.*1386C= (n.*1386C=)
c.1939C= (n.1939C=)
c.1559C= (p.Ser520=)
c.1607C= (p.Ser536=)
c.1703C= (p.Ser568=)
c.1649C= (p.Ser550=)
c.1610C= (p.Ser537=)
18g.33739131C>GCA402176206ASXL3c.1730C>G (p.Ser577Ter)
c.1727C>G (p.Ser576Ter)
c.*851C>G (n.*851C>G)
c.*1386C>G (n.*1386C>G)
c.1939C>G (n.1939C>G)
c.1559C>G (p.Ser520Ter)
c.1607C>G (p.Ser536Ter)
c.1703C>G (p.Ser568Ter)
c.1649C>G (p.Ser550Ter)
c.1610C>G (p.Ser537Ter)
18g.33739131C>TCA402176207ASXL3c.1730C>T (p.Ser577Leu)
c.1727C>T (p.Ser576Leu)
c.*851C>T (n.*851C>T)
c.*1386C>T (n.*1386C>T)
c.1939C>T (n.1939C>T)
c.1559C>T (p.Ser520Leu)
c.1607C>T (p.Ser536Leu)
c.1703C>T (p.Ser568Leu)
c.1649C>T (p.Ser550Leu)
c.1610C>T (p.Ser537Leu)
dbSNP gnomAD v4 COSMIC COSMIC
18g.33739132A>CCA503768579ASXL3c.1731A>C (p.Ser577=)
c.1728A>C (p.Ser576=)
c.*852A>C (n.*852A>C)
c.*1387A>C (n.*1387A>C)
c.1940A>C (n.1940A>C)
c.1560A>C (p.Ser520=)
c.1608A>C (p.Ser536=)
c.1704A>C (p.Ser568=)
c.1650A>C (p.Ser550=)
c.1611A>C (p.Ser537=)
18g.33739132A>GCA503768580ASXL3c.1731A>G (p.Ser577=)
c.1728A>G (p.Ser576=)
c.*852A>G (n.*852A>G)
c.*1387A>G (n.*1387A>G)
c.1940A>G (n.1940A>G)
c.1560A>G (p.Ser520=)
c.1608A>G (p.Ser536=)
c.1704A>G (p.Ser568=)
c.1650A>G (p.Ser550=)
c.1611A>G (p.Ser537=)
18g.33739132A>TCA503768581ASXL3c.1731A>T (p.Ser577=)
c.1728A>T (p.Ser576=)
c.*852A>T (n.*852A>T)
c.*1387A>T (n.*1387A>T)
c.1940A>T (n.1940A>T)
c.1560A>T (p.Ser520=)
c.1608A>T (p.Ser536=)
c.1704A>T (p.Ser568=)
c.1650A>T (p.Ser550=)
c.1611A>T (p.Ser537=)
18g.33739132_33739135delinsATCTCA2294855839ASXL3c.1731_1734delinsATCT (p.Ser577=)
c.1728_1731delinsATCT (p.Ser576=)
c.*852_*855delinsATCT (n.*852_*855delinsATCT)
c.*1387_*1390delinsATCT (n.*1387_*1390delinsATCT)
c.1940_1943delinsATCT (n.1940_1943delinsATCT)
c.1560_1563delinsATCT (p.Ser520=)
c.1608_1611delinsATCT (p.Ser536=)
c.1704_1707delinsATCT (p.Ser568=)
c.1650_1653delinsATCT (p.Ser550=)
c.1611_1614delinsATCT (p.Ser537=)
18g.33739133T>ACA402176208ASXL3c.1732T>A (p.Ser578Thr)
c.1729T>A (p.Ser577Thr)
c.*853T>A (n.*853T>A)
c.*1388T>A (n.*1388T>A)
c.1941T>A (n.1941T>A)
c.1561T>A (p.Ser521Thr)
c.1609T>A (p.Ser537Thr)
c.1705T>A (p.Ser569Thr)
c.1651T>A (p.Ser551Thr)
c.1612T>A (p.Ser538Thr)
18g.33739133T>CCA402176209ASXL3c.1732T>C (p.Ser578Pro)
c.1729T>C (p.Ser577Pro)
c.*853T>C (n.*853T>C)
c.*1388T>C (n.*1388T>C)
c.1941T>C (n.1941T>C)
c.1561T>C (p.Ser521Pro)
c.1609T>C (p.Ser537Pro)
c.1705T>C (p.Ser569Pro)
c.1651T>C (p.Ser551Pro)
c.1612T>C (p.Ser538Pro)
18g.33739133T>GCA402176210ASXL3c.1732T>G (p.Ser578Ala)
c.1729T>G (p.Ser577Ala)
c.*853T>G (n.*853T>G)
c.*1388T>G (n.*1388T>G)
c.1941T>G (n.1941T>G)
c.1561T>G (p.Ser521Ala)
c.1609T>G (p.Ser537Ala)
c.1705T>G (p.Ser569Ala)
c.1651T>G (p.Ser551Ala)
c.1612T>G (p.Ser538Ala)
18g.33739136_33739138delCA8933804ASXL3c.1735_1737del (p.Ser579del)
c.1732_1734del (p.Ser578del)
c.*856_*858del (n.*856_*858del)
c.*1391_*1393del (n.*1391_*1393del)
c.1944_1946del (n.1944_1946del)
c.1564_1566del (p.Ser522del)
c.1612_1614del (p.Ser538del)
c.1708_1710del (p.Ser570del)
c.1654_1656del (p.Ser552del)
c.1615_1617del (p.Ser539del)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739134C>ACA402176211ASXL3c.1733C>A (p.Ser578Tyr)
c.1730C>A (p.Ser577Tyr)
c.*854C>A (n.*854C>A)
c.*1389C>A (n.*1389C>A)
c.1942C>A (n.1942C>A)
c.1562C>A (p.Ser521Tyr)
c.1610C>A (p.Ser537Tyr)
c.1706C>A (p.Ser569Tyr)
c.1652C>A (p.Ser551Tyr)
c.1613C>A (p.Ser538Tyr)
18g.33739134C=CA2294855840ASXL3c.1733C= (p.Ser578=)
c.1730C= (p.Ser577=)
c.*854C= (n.*854C=)
c.*1389C= (n.*1389C=)
c.1942C= (n.1942C=)
c.1562C= (p.Ser521=)
c.1610C= (p.Ser537=)
c.1706C= (p.Ser569=)
c.1652C= (p.Ser551=)
c.1613C= (p.Ser538=)
18g.33739134C>GCA8933806ASXL3c.1733C>G (p.Ser578Cys)
c.1730C>G (p.Ser577Cys)
c.*854C>G (n.*854C>G)
c.*1389C>G (n.*1389C>G)
c.1942C>G (n.1942C>G)
c.1562C>G (p.Ser521Cys)
c.1610C>G (p.Ser537Cys)
c.1706C>G (p.Ser569Cys)
c.1652C>G (p.Ser551Cys)
c.1613C>G (p.Ser538Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739134C>TCA8933805ASXL3c.1733C>T (p.Ser578Phe)
c.1730C>T (p.Ser577Phe)
c.*854C>T (n.*854C>T)
c.*1389C>T (n.*1389C>T)
c.1942C>T (n.1942C>T)
c.1562C>T (p.Ser521Phe)
c.1610C>T (p.Ser537Phe)
c.1706C>T (p.Ser569Phe)
c.1652C>T (p.Ser551Phe)
c.1613C>T (p.Ser538Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739135T>ACA503768585ASXL3c.1734T>A (p.Ser578=)
c.1731T>A (p.Ser577=)
c.*855T>A (n.*855T>A)
c.*1390T>A (n.*1390T>A)
c.1943T>A (n.1943T>A)
c.1563T>A (p.Ser521=)
c.1611T>A (p.Ser537=)
c.1707T>A (p.Ser569=)
c.1653T>A (p.Ser551=)
c.1614T>A (p.Ser538=)
18g.33739135T>CCA503768586ASXL3c.1734T>C (p.Ser578=)
c.1731T>C (p.Ser577=)
c.*855T>C (n.*855T>C)
c.*1390T>C (n.*1390T>C)
c.1943T>C (n.1943T>C)
c.1563T>C (p.Ser521=)
c.1611T>C (p.Ser537=)
c.1707T>C (p.Ser569=)
c.1653T>C (p.Ser551=)
c.1614T>C (p.Ser538=)
18g.33739135T>GCA503768588ASXL3c.1734T>G (p.Ser578=)
c.1731T>G (p.Ser577=)
c.*855T>G (n.*855T>G)
c.*1390T>G (n.*1390T>G)
c.1943T>G (n.1943T>G)
c.1563T>G (p.Ser521=)
c.1611T>G (p.Ser537=)
c.1707T>G (p.Ser569=)
c.1653T>G (p.Ser551=)
c.1614T>G (p.Ser538=)
18g.33739136T>ACA402176214ASXL3c.1735T>A (p.Ser579Thr)
c.1732T>A (p.Ser578Thr)
c.*856T>A (n.*856T>A)
c.*1391T>A (n.*1391T>A)
c.1944T>A (n.1944T>A)
c.1564T>A (p.Ser522Thr)
c.1612T>A (p.Ser538Thr)
c.1708T>A (p.Ser570Thr)
c.1654T>A (p.Ser552Thr)
c.1615T>A (p.Ser539Thr)
18g.33739136T>CCA402176212ASXL3c.1735T>C (p.Ser579Pro)
c.1732T>C (p.Ser578Pro)
c.*856T>C (n.*856T>C)
c.*1391T>C (n.*1391T>C)
c.1944T>C (n.1944T>C)
c.1564T>C (p.Ser522Pro)
c.1612T>C (p.Ser538Pro)
c.1708T>C (p.Ser570Pro)
c.1654T>C (p.Ser552Pro)
c.1615T>C (p.Ser539Pro)
gnomAD v4
18g.33739136T>GCA402176213ASXL3c.1735T>G (p.Ser579Ala)
c.1732T>G (p.Ser578Ala)
c.*856T>G (n.*856T>G)
c.*1391T>G (n.*1391T>G)
c.1944T>G (n.1944T>G)
c.1564T>G (p.Ser522Ala)
c.1612T>G (p.Ser538Ala)
c.1708T>G (p.Ser570Ala)
c.1654T>G (p.Ser552Ala)
c.1615T>G (p.Ser539Ala)
18g.33739137C>ACA402176215ASXL3c.1736C>A (p.Ser579Tyr)
c.1733C>A (p.Ser578Tyr)
c.*857C>A (n.*857C>A)
c.*1392C>A (n.*1392C>A)
c.1945C>A (n.1945C>A)
c.1565C>A (p.Ser522Tyr)
c.1613C>A (p.Ser538Tyr)
c.1709C>A (p.Ser570Tyr)
c.1655C>A (p.Ser552Tyr)
c.1616C>A (p.Ser539Tyr)
18g.33739137C=CA2294855841ASXL3c.1736C= (p.Ser579=)
c.1733C= (p.Ser578=)
c.*857C= (n.*857C=)
c.*1392C= (n.*1392C=)
c.1945C= (n.1945C=)
c.1565C= (p.Ser522=)
c.1613C= (p.Ser538=)
c.1709C= (p.Ser570=)
c.1655C= (p.Ser552=)
c.1616C= (p.Ser539=)
18g.33739137C>GCA402176216ASXL3c.1736C>G (p.Ser579Cys)
c.1733C>G (p.Ser578Cys)
c.*857C>G (n.*857C>G)
c.*1392C>G (n.*1392C>G)
c.1945C>G (n.1945C>G)
c.1565C>G (p.Ser522Cys)
c.1613C>G (p.Ser538Cys)
c.1709C>G (p.Ser570Cys)
c.1655C>G (p.Ser552Cys)
c.1616C>G (p.Ser539Cys)
18g.33739137C>TCA8933807ASXL3c.1736C>T (p.Ser579Phe)
c.1733C>T (p.Ser578Phe)
c.*857C>T (n.*857C>T)
c.*1392C>T (n.*1392C>T)
c.1945C>T (n.1945C>T)
c.1565C>T (p.Ser522Phe)
c.1613C>T (p.Ser538Phe)
c.1709C>T (p.Ser570Phe)
c.1655C>T (p.Ser552Phe)
c.1616C>T (p.Ser539Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739138T>ACA503768593ASXL3c.1737T>A (p.Ser579=)
c.1734T>A (p.Ser578=)
c.*858T>A (n.*858T>A)
c.*1393T>A (n.*1393T>A)
c.1946T>A (n.1946T>A)
c.1566T>A (p.Ser522=)
c.1614T>A (p.Ser538=)
c.1710T>A (p.Ser570=)
c.1656T>A (p.Ser552=)
c.1617T>A (p.Ser539=)
18g.33739138T>CCA503768594ASXL3c.1737T>C (p.Ser579=)
c.1734T>C (p.Ser578=)
c.*858T>C (n.*858T>C)
c.*1393T>C (n.*1393T>C)
c.1946T>C (n.1946T>C)
c.1566T>C (p.Ser522=)
c.1614T>C (p.Ser538=)
c.1710T>C (p.Ser570=)
c.1656T>C (p.Ser552=)
c.1617T>C (p.Ser539=)
18g.33739138T>GCA503768596ASXL3c.1737T>G (p.Ser579=)
c.1734T>G (p.Ser578=)
c.*858T>G (n.*858T>G)
c.*1393T>G (n.*1393T>G)
c.1946T>G (n.1946T>G)
c.1566T>G (p.Ser522=)
c.1614T>G (p.Ser538=)
c.1710T>G (p.Ser570=)
c.1656T>G (p.Ser552=)
c.1617T>G (p.Ser539=)
18g.33739139C>ACA402176217ASXL3c.1738C>A (p.Leu580Ile)
c.1735C>A (p.Leu579Ile)
c.*859C>A (n.*859C>A)
c.*1394C>A (n.*1394C>A)
c.1947C>A (n.1947C>A)
c.1567C>A (p.Leu523Ile)
c.1615C>A (p.Leu539Ile)
c.1711C>A (p.Leu571Ile)
c.1657C>A (p.Leu553Ile)
c.1618C>A (p.Leu540Ile)
18g.33739139C>GCA402176218ASXL3c.1738C>G (p.Leu580Val)
c.1735C>G (p.Leu579Val)
c.*859C>G (n.*859C>G)
c.*1394C>G (n.*1394C>G)
c.1947C>G (n.1947C>G)
c.1567C>G (p.Leu523Val)
c.1615C>G (p.Leu539Val)
c.1711C>G (p.Leu571Val)
c.1657C>G (p.Leu553Val)
c.1618C>G (p.Leu540Val)
18g.33739139C>TCA503768600ASXL3c.1738C>T (p.Leu580=)
c.1735C>T (p.Leu579=)
c.*859C>T (n.*859C>T)
c.*1394C>T (n.*1394C>T)
c.1947C>T (n.1947C>T)
c.1567C>T (p.Leu523=)
c.1615C>T (p.Leu539=)
c.1711C>T (p.Leu571=)
c.1657C>T (p.Leu553=)
c.1618C>T (p.Leu540=)
18g.33739140T>ACA402176219ASXL3c.1739T>A (p.Leu580Gln)
c.1736T>A (p.Leu579Gln)
c.*860T>A (n.*860T>A)
c.*1395T>A (n.*1395T>A)
c.1948T>A (n.1948T>A)
c.1568T>A (p.Leu523Gln)
c.1616T>A (p.Leu539Gln)
c.1712T>A (p.Leu571Gln)
c.1658T>A (p.Leu553Gln)
c.1619T>A (p.Leu540Gln)
18g.33739140T>CCA402176220ASXL3c.1739T>C (p.Leu580Pro)
c.1736T>C (p.Leu579Pro)
c.*860T>C (n.*860T>C)
c.*1395T>C (n.*1395T>C)
c.1948T>C (n.1948T>C)
c.1568T>C (p.Leu523Pro)
c.1616T>C (p.Leu539Pro)
c.1712T>C (p.Leu571Pro)
c.1658T>C (p.Leu553Pro)
c.1619T>C (p.Leu540Pro)
18g.33739140T>GCA402176221ASXL3c.1739T>G (p.Leu580Arg)
c.1736T>G (p.Leu579Arg)
c.*860T>G (n.*860T>G)
c.*1395T>G (n.*1395T>G)
c.1948T>G (n.1948T>G)
c.1568T>G (p.Leu523Arg)
c.1616T>G (p.Leu539Arg)
c.1712T>G (p.Leu571Arg)
c.1658T>G (p.Leu553Arg)
c.1619T>G (p.Leu540Arg)
18g.33739141A>CCA503768601ASXL3c.1740A>C (p.Leu580=)
c.1737A>C (p.Leu579=)
c.*861A>C (n.*861A>C)
c.*1396A>C (n.*1396A>C)
c.1949A>C (n.1949A>C)
c.1569A>C (p.Leu523=)
c.1617A>C (p.Leu539=)
c.1713A>C (p.Leu571=)
c.1659A>C (p.Leu553=)
c.1620A>C (p.Leu540=)
18g.33739141A>GCA503768602ASXL3c.1740A>G (p.Leu580=)
c.1737A>G (p.Leu579=)
c.*861A>G (n.*861A>G)
c.*1396A>G (n.*1396A>G)
c.1949A>G (n.1949A>G)
c.1569A>G (p.Leu523=)
c.1617A>G (p.Leu539=)
c.1713A>G (p.Leu571=)
c.1659A>G (p.Leu553=)
c.1620A>G (p.Leu540=)
18g.33739141A>TCA503768603ASXL3c.1740A>T (p.Leu580=)
c.1737A>T (p.Leu579=)
c.*861A>T (n.*861A>T)
c.*1396A>T (n.*1396A>T)
c.1949A>T (n.1949A>T)
c.1569A>T (p.Leu523=)
c.1617A>T (p.Leu539=)
c.1713A>T (p.Leu571=)
c.1659A>T (p.Leu553=)
c.1620A>T (p.Leu540=)
18g.33739142G>ACA402176222ASXL3c.1741G>A (p.Glu581Lys)
c.1738G>A (p.Glu580Lys)
c.*862G>A (n.*862G>A)
c.*1397G>A (n.*1397G>A)
c.1950G>A (n.1950G>A)
c.1570G>A (p.Glu524Lys)
c.1618G>A (p.Glu540Lys)
c.1714G>A (p.Glu572Lys)
c.1660G>A (p.Glu554Lys)
c.1621G>A (p.Glu541Lys)
18g.33739142G>CCA402176223ASXL3c.1741G>C (p.Glu581Gln)
c.1738G>C (p.Glu580Gln)
c.*862G>C (n.*862G>C)
c.*1397G>C (n.*1397G>C)
c.1950G>C (n.1950G>C)
c.1570G>C (p.Glu524Gln)
c.1618G>C (p.Glu540Gln)
c.1714G>C (p.Glu572Gln)
c.1660G>C (p.Glu554Gln)
c.1621G>C (p.Glu541Gln)
gnomAD v4
18g.33739142G=CA2294855842ASXL3c.1741G= (p.Glu581=)
c.1738G= (p.Glu580=)
c.*862G= (n.*862G=)
c.*1397G= (n.*1397G=)
c.1950G= (n.1950G=)
c.1570G= (p.Glu524=)
c.1618G= (p.Glu540=)
c.1714G= (p.Glu572=)
c.1660G= (p.Glu554=)
c.1621G= (p.Glu541=)
18g.33739142G>TCA402176224ASXL3c.1741G>T (p.Glu581Ter)
c.1738G>T (p.Glu580Ter)
c.*862G>T (n.*862G>T)
c.*1397G>T (n.*1397G>T)
c.1950G>T (n.1950G>T)
c.1570G>T (p.Glu524Ter)
c.1618G>T (p.Glu540Ter)
c.1714G>T (p.Glu572Ter)
c.1660G>T (p.Glu554Ter)
c.1621G>T (p.Glu541Ter)
ClinVar dbSNP
18g.33739143A=CA2294855843ASXL3c.1742A= (p.Glu581=)
c.1739A= (p.Glu580=)
c.*863A= (n.*863A=)
c.*1398A= (n.*1398A=)
c.1951A= (n.1951A=)
c.1571A= (p.Glu524=)
c.1619A= (p.Glu540=)
c.1715A= (p.Glu572=)
c.1661A= (p.Glu554=)
c.1622A= (p.Glu541=)
18g.33739143A>CCA402176226ASXL3c.1742A>C (p.Glu581Ala)
c.1739A>C (p.Glu580Ala)
c.*863A>C (n.*863A>C)
c.*1398A>C (n.*1398A>C)
c.1951A>C (n.1951A>C)
c.1571A>C (p.Glu524Ala)
c.1619A>C (p.Glu540Ala)
c.1715A>C (p.Glu572Ala)
c.1661A>C (p.Glu554Ala)
c.1622A>C (p.Glu541Ala)
18g.33739143A>GCA402176227ASXL3c.1742A>G (p.Glu581Gly)
c.1739A>G (p.Glu580Gly)
c.*863A>G (n.*863A>G)
c.*1398A>G (n.*1398A>G)
c.1951A>G (n.1951A>G)
c.1571A>G (p.Glu524Gly)
c.1619A>G (p.Glu540Gly)
c.1715A>G (p.Glu572Gly)
c.1661A>G (p.Glu554Gly)
c.1622A>G (p.Glu541Gly)
dbSNP gnomAD v2 gnomAD v4
18g.33739143A>TCA402176225ASXL3c.1742A>T (p.Glu581Val)
c.1739A>T (p.Glu580Val)
c.*863A>T (n.*863A>T)
c.*1398A>T (n.*1398A>T)
c.1951A>T (n.1951A>T)
c.1571A>T (p.Glu524Val)
c.1619A>T (p.Glu540Val)
c.1715A>T (p.Glu572Val)
c.1661A>T (p.Glu554Val)
c.1622A>T (p.Glu541Val)
18g.33739144A>CCA402176228ASXL3c.1743A>C (p.Glu581Asp)
c.1740A>C (p.Glu580Asp)
c.*864A>C (n.*864A>C)
c.*1399A>C (n.*1399A>C)
c.1952A>C (n.1952A>C)
c.1572A>C (p.Glu524Asp)
c.1620A>C (p.Glu540Asp)
c.1716A>C (p.Glu572Asp)
c.1662A>C (p.Glu554Asp)
c.1623A>C (p.Glu541Asp)
18g.33739144A>GCA503768607ASXL3c.1743A>G (p.Glu581=)
c.1740A>G (p.Glu580=)
c.*864A>G (n.*864A>G)
c.*1399A>G (n.*1399A>G)
c.1952A>G (n.1952A>G)
c.1572A>G (p.Glu524=)
c.1620A>G (p.Glu540=)
c.1716A>G (p.Glu572=)
c.1662A>G (p.Glu554=)
c.1623A>G (p.Glu541=)
18g.33739144A>TCA402176229ASXL3c.1743A>T (p.Glu581Asp)
c.1740A>T (p.Glu580Asp)
c.*864A>T (n.*864A>T)
c.*1399A>T (n.*1399A>T)
c.1952A>T (n.1952A>T)
c.1572A>T (p.Glu524Asp)
c.1620A>T (p.Glu540Asp)
c.1716A>T (p.Glu572Asp)
c.1662A>T (p.Glu554Asp)
c.1623A>T (p.Glu541Asp)
18g.33739145G>ACA402176230ASXL3c.1744G>A (p.Gly582Ser)
c.1741G>A (p.Gly581Ser)
c.*865G>A (n.*865G>A)
c.*1400G>A (n.*1400G>A)
c.1953G>A (n.1953G>A)
c.1573G>A (p.Gly525Ser)
c.1621G>A (p.Gly541Ser)
c.1717G>A (p.Gly573Ser)
c.1663G>A (p.Gly555Ser)
c.1624G>A (p.Gly542Ser)
gnomAD v4 COSMIC COSMIC
18g.33739145G>CCA402176231ASXL3c.1744G>C (p.Gly582Arg)
c.1741G>C (p.Gly581Arg)
c.*865G>C (n.*865G>C)
c.*1400G>C (n.*1400G>C)
c.1953G>C (n.1953G>C)
c.1573G>C (p.Gly525Arg)
c.1621G>C (p.Gly541Arg)
c.1717G>C (p.Gly573Arg)
c.1663G>C (p.Gly555Arg)
c.1624G>C (p.Gly542Arg)
18g.33739145G>TCA402176232ASXL3c.1744G>T (p.Gly582Cys)
c.1741G>T (p.Gly581Cys)
c.*865G>T (n.*865G>T)
c.*1400G>T (n.*1400G>T)
c.1953G>T (n.1953G>T)
c.1573G>T (p.Gly525Cys)
c.1621G>T (p.Gly541Cys)
c.1717G>T (p.Gly573Cys)
c.1663G>T (p.Gly555Cys)
c.1624G>T (p.Gly542Cys)
18g.33739146G>ACA297787002ASXL3c.1745G>A (p.Gly582Asp)
c.1742G>A (p.Gly581Asp)
c.*866G>A (n.*866G>A)
c.*1401G>A (n.*1401G>A)
c.1954G>A (n.1954G>A)
c.1574G>A (p.Gly525Asp)
c.1622G>A (p.Gly541Asp)
c.1718G>A (p.Gly573Asp)
c.1664G>A (p.Gly555Asp)
c.1625G>A (p.Gly542Asp)
dbSNP
18g.33739146G>CCA402176234ASXL3c.1745G>C (p.Gly582Ala)
c.1742G>C (p.Gly581Ala)
c.*866G>C (n.*866G>C)
c.*1401G>C (n.*1401G>C)
c.1954G>C (n.1954G>C)
c.1574G>C (p.Gly525Ala)
c.1622G>C (p.Gly541Ala)
c.1718G>C (p.Gly573Ala)
c.1664G>C (p.Gly555Ala)
c.1625G>C (p.Gly542Ala)
18g.33739146G=CA2294855844ASXL3c.1745G= (p.Gly582=)
c.1742G= (p.Gly581=)
c.*866G= (n.*866G=)
c.*1401G= (n.*1401G=)
c.1954G= (n.1954G=)
c.1574G= (p.Gly525=)
c.1622G= (p.Gly541=)
c.1718G= (p.Gly573=)
c.1664G= (p.Gly555=)
c.1625G= (p.Gly542=)
18g.33739146G>TCA402176233ASXL3c.1745G>T (p.Gly582Val)
c.1742G>T (p.Gly581Val)
c.*866G>T (n.*866G>T)
c.*1401G>T (n.*1401G>T)
c.1954G>T (n.1954G>T)
c.1574G>T (p.Gly525Val)
c.1622G>T (p.Gly541Val)
c.1718G>T (p.Gly573Val)
c.1664G>T (p.Gly555Val)
c.1625G>T (p.Gly542Val)
18g.33739147C>ACA503768611ASXL3c.1746C>A (p.Gly582=)
c.1743C>A (p.Gly581=)
c.*867C>A (n.*867C>A)
c.*1402C>A (n.*1402C>A)
c.1955C>A (n.1955C>A)
c.1575C>A (p.Gly525=)
c.1623C>A (p.Gly541=)
c.1719C>A (p.Gly573=)
c.1665C>A (p.Gly555=)
c.1626C>A (p.Gly542=)
18g.33739147C>GCA503768612ASXL3c.1746C>G (p.Gly582=)
c.1743C>G (p.Gly581=)
c.*867C>G (n.*867C>G)
c.*1402C>G (n.*1402C>G)
c.1955C>G (n.1955C>G)
c.1575C>G (p.Gly525=)
c.1623C>G (p.Gly541=)
c.1719C>G (p.Gly573=)
c.1665C>G (p.Gly555=)
c.1626C>G (p.Gly542=)
18g.33739147C>TCA503768610ASXL3c.1746C>T (p.Gly582=)
c.1743C>T (p.Gly581=)
c.*867C>T (n.*867C>T)
c.*1402C>T (n.*1402C>T)
c.1955C>T (n.1955C>T)
c.1575C>T (p.Gly525=)
c.1623C>T (p.Gly541=)
c.1719C>T (p.Gly573=)
c.1665C>T (p.Gly555=)
c.1626C>T (p.Gly542=)
dbSNP gnomAD v4
18g.33739148C>ACA402176235ASXL3c.1747C>A (p.Gln583Lys)
c.1744C>A (p.Gln582Lys)
c.*868C>A (n.*868C>A)
c.*1403C>A (n.*1403C>A)
c.1956C>A (n.1956C>A)
c.1576C>A (p.Gln526Lys)
c.1624C>A (p.Gln542Lys)
c.1720C>A (p.Gln574Lys)
c.1666C>A (p.Gln556Lys)
c.1627C>A (p.Gln543Lys)
dbSNP
18g.33739148C=CA2294855845ASXL3c.1747C= (p.Gln583=)
c.1744C= (p.Gln582=)
c.*868C= (n.*868C=)
c.*1403C= (n.*1403C=)
c.1956C= (n.1956C=)
c.1576C= (p.Gln526=)
c.1624C= (p.Gln542=)
c.1720C= (p.Gln574=)
c.1666C= (p.Gln556=)
c.1627C= (p.Gln543=)
18g.33739148C>GCA402176236ASXL3c.1747C>G (p.Gln583Glu)
c.1744C>G (p.Gln582Glu)
c.*868C>G (n.*868C>G)
c.*1403C>G (n.*1403C>G)
c.1956C>G (n.1956C>G)
c.1576C>G (p.Gln526Glu)
c.1624C>G (p.Gln542Glu)
c.1720C>G (p.Gln574Glu)
c.1666C>G (p.Gln556Glu)
c.1627C>G (p.Gln543Glu)
gnomAD v4
18g.33739148C>TCA402176237ASXL3c.1747C>T (p.Gln583Ter)
c.1744C>T (p.Gln582Ter)
c.*868C>T (n.*868C>T)
c.*1403C>T (n.*1403C>T)
c.1956C>T (n.1956C>T)
c.1576C>T (p.Gln526Ter)
c.1624C>T (p.Gln542Ter)
c.1720C>T (p.Gln574Ter)
c.1666C>T (p.Gln556Ter)
c.1627C>T (p.Gln543Ter)
ClinVar
18g.33739149A>CCA402176238ASXL3c.1748A>C (p.Gln583Pro)
c.1745A>C (p.Gln582Pro)
c.*869A>C (n.*869A>C)
c.*1404A>C (n.*1404A>C)
c.1957A>C (n.1957A>C)
c.1577A>C (p.Gln526Pro)
c.1625A>C (p.Gln542Pro)
c.1721A>C (p.Gln574Pro)
c.1667A>C (p.Gln556Pro)
c.1628A>C (p.Gln543Pro)
18g.33739149A>GCA402176239ASXL3c.1748A>G (p.Gln583Arg)
c.1745A>G (p.Gln582Arg)
c.*869A>G (n.*869A>G)
c.*1404A>G (n.*1404A>G)
c.1957A>G (n.1957A>G)
c.1577A>G (p.Gln526Arg)
c.1625A>G (p.Gln542Arg)
c.1721A>G (p.Gln574Arg)
c.1667A>G (p.Gln556Arg)
c.1628A>G (p.Gln543Arg)
18g.33739149A>TCA402176240ASXL3c.1748A>T (p.Gln583Leu)
c.1745A>T (p.Gln582Leu)
c.*869A>T (n.*869A>T)
c.*1404A>T (n.*1404A>T)
c.1957A>T (n.1957A>T)
c.1577A>T (p.Gln526Leu)
c.1625A>T (p.Gln542Leu)
c.1721A>T (p.Gln574Leu)
c.1667A>T (p.Gln556Leu)
c.1628A>T (p.Gln543Leu)
18g.33739150G>ACA8933808ASXL3c.1749G>A (p.Gln583=)
c.1746G>A (p.Gln582=)
c.*870G>A (n.*870G>A)
c.*1405G>A (n.*1405G>A)
c.1958G>A (n.1958G>A)
c.1578G>A (p.Gln526=)
c.1626G>A (p.Gln542=)
c.1722G>A (p.Gln574=)
c.1668G>A (p.Gln556=)
c.1629G>A (p.Gln543=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739150G>CCA402176242ASXL3c.1749G>C (p.Gln583His)
c.1746G>C (p.Gln582His)
c.*870G>C (n.*870G>C)
c.*1405G>C (n.*1405G>C)
c.1958G>C (n.1958G>C)
c.1578G>C (p.Gln526His)
c.1626G>C (p.Gln542His)
c.1722G>C (p.Gln574His)
c.1668G>C (p.Gln556His)
c.1629G>C (p.Gln543His)
18g.33739150G=CA2294855846ASXL3c.1749G= (p.Gln583=)
c.1746G= (p.Gln582=)
c.*870G= (n.*870G=)
c.*1405G= (n.*1405G=)
c.1958G= (n.1958G=)
c.1578G= (p.Gln526=)
c.1626G= (p.Gln542=)
c.1722G= (p.Gln574=)
c.1668G= (p.Gln556=)
c.1629G= (p.Gln543=)
18g.33739150G>TCA402176241ASXL3c.1749G>T (p.Gln583His)
c.1746G>T (p.Gln582His)
c.*870G>T (n.*870G>T)
c.*1405G>T (n.*1405G>T)
c.1958G>T (n.1958G>T)
c.1578G>T (p.Gln526His)
c.1626G>T (p.Gln542His)
c.1722G>T (p.Gln574His)
c.1668G>T (p.Gln556His)
c.1629G>T (p.Gln543His)
18g.33739151T>ACA402176243ASXL3c.1750T>A (p.Phe584Ile)
c.1747T>A (p.Phe583Ile)
c.*871T>A (n.*871T>A)
c.*1406T>A (n.*1406T>A)
c.1959T>A (n.1959T>A)
c.1579T>A (p.Phe527Ile)
c.1627T>A (p.Phe543Ile)
c.1723T>A (p.Phe575Ile)
c.1669T>A (p.Phe557Ile)
c.1630T>A (p.Phe544Ile)
gnomAD v4
18g.33739151T>CCA8933809ASXL3c.1750T>C (p.Phe584Leu)
c.1747T>C (p.Phe583Leu)
c.*871T>C (n.*871T>C)
c.*1406T>C (n.*1406T>C)
c.1959T>C (n.1959T>C)
c.1579T>C (p.Phe527Leu)
c.1627T>C (p.Phe543Leu)
c.1723T>C (p.Phe575Leu)
c.1669T>C (p.Phe557Leu)
c.1630T>C (p.Phe544Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739151T>GCA402176244ASXL3c.1750T>G (p.Phe584Val)
c.1747T>G (p.Phe583Val)
c.*871T>G (n.*871T>G)
c.*1406T>G (n.*1406T>G)
c.1959T>G (n.1959T>G)
c.1579T>G (p.Phe527Val)
c.1627T>G (p.Phe543Val)
c.1723T>G (p.Phe575Val)
c.1669T>G (p.Phe557Val)
c.1630T>G (p.Phe544Val)
18g.33739151T=CA2294855847ASXL3c.1750T= (p.Phe584=)
c.1747T= (p.Phe583=)
c.*871T= (n.*871T=)
c.*1406T= (n.*1406T=)
c.1959T= (n.1959T=)
c.1579T= (p.Phe527=)
c.1627T= (p.Phe543=)
c.1723T= (p.Phe575=)
c.1669T= (p.Phe557=)
c.1630T= (p.Phe544=)
18g.33739152T>ACA402176245ASXL3c.1751T>A (p.Phe584Tyr)
c.1748T>A (p.Phe583Tyr)
c.*872T>A (n.*872T>A)
c.*1407T>A (n.*1407T>A)
c.1960T>A (n.1960T>A)
c.1580T>A (p.Phe527Tyr)
c.1628T>A (p.Phe543Tyr)
c.1724T>A (p.Phe575Tyr)
c.1670T>A (p.Phe557Tyr)
c.1631T>A (p.Phe544Tyr)
18g.33739152T>CCA402176246ASXL3c.1751T>C (p.Phe584Ser)
c.1748T>C (p.Phe583Ser)
c.*872T>C (n.*872T>C)
c.*1407T>C (n.*1407T>C)
c.1960T>C (n.1960T>C)
c.1580T>C (p.Phe527Ser)
c.1628T>C (p.Phe543Ser)
c.1724T>C (p.Phe575Ser)
c.1670T>C (p.Phe557Ser)
c.1631T>C (p.Phe544Ser)
18g.33739152T>GCA402176247ASXL3c.1751T>G (p.Phe584Cys)
c.1748T>G (p.Phe583Cys)
c.*872T>G (n.*872T>G)
c.*1407T>G (n.*1407T>G)
c.1960T>G (n.1960T>G)
c.1580T>G (p.Phe527Cys)
c.1628T>G (p.Phe543Cys)
c.1724T>G (p.Phe575Cys)
c.1670T>G (p.Phe557Cys)
c.1631T>G (p.Phe544Cys)
18g.33739153T>ACA402176248ASXL3c.1752T>A (p.Phe584Leu)
c.1749T>A (p.Phe583Leu)
c.*873T>A (n.*873T>A)
c.*1408T>A (n.*1408T>A)
c.1961T>A (n.1961T>A)
c.1581T>A (p.Phe527Leu)
c.1629T>A (p.Phe543Leu)
c.1725T>A (p.Phe575Leu)
c.1671T>A (p.Phe557Leu)
c.1632T>A (p.Phe544Leu)
18g.33739153T>CCA503768622ASXL3c.1752T>C (p.Phe584=)
c.1749T>C (p.Phe583=)
c.*873T>C (n.*873T>C)
c.*1408T>C (n.*1408T>C)
c.1961T>C (n.1961T>C)
c.1581T>C (p.Phe527=)
c.1629T>C (p.Phe543=)
c.1725T>C (p.Phe575=)
c.1671T>C (p.Phe557=)
c.1632T>C (p.Phe544=)
dbSNP gnomAD v4
18g.33739153T>GCA402176249ASXL3c.1752T>G (p.Phe584Leu)
c.1749T>G (p.Phe583Leu)
c.*873T>G (n.*873T>G)
c.*1408T>G (n.*1408T>G)
c.1961T>G (n.1961T>G)
c.1581T>G (p.Phe527Leu)
c.1629T>G (p.Phe543Leu)
c.1725T>G (p.Phe575Leu)
c.1671T>G (p.Phe557Leu)
c.1632T>G (p.Phe544Leu)
18g.33739153T=CA2294855848ASXL3c.1752T= (p.Phe584=)
c.1749T= (p.Phe583=)
c.*873T= (n.*873T=)
c.*1408T= (n.*1408T=)
c.1961T= (n.1961T=)
c.1581T= (p.Phe527=)
c.1629T= (p.Phe543=)
c.1725T= (p.Phe575=)
c.1671T= (p.Phe557=)
c.1632T= (p.Phe544=)
18g.33739154C>ACA402176250ASXL3c.1753C>A (p.Pro585Thr)
c.1750C>A (p.Pro584Thr)
c.*874C>A (n.*874C>A)
c.*1409C>A (n.*1409C>A)
c.1962C>A (n.1962C>A)
c.1582C>A (p.Pro528Thr)
c.1630C>A (p.Pro544Thr)
c.1726C>A (p.Pro576Thr)
c.1672C>A (p.Pro558Thr)
c.1633C>A (p.Pro545Thr)
18g.33739154C>GCA402176251ASXL3c.1753C>G (p.Pro585Ala)
c.1750C>G (p.Pro584Ala)
c.*874C>G (n.*874C>G)
c.*1409C>G (n.*1409C>G)
c.1962C>G (n.1962C>G)
c.1582C>G (p.Pro528Ala)
c.1630C>G (p.Pro544Ala)
c.1726C>G (p.Pro576Ala)
c.1672C>G (p.Pro558Ala)
c.1633C>G (p.Pro545Ala)
18g.33739154C>TCA402176252ASXL3c.1753C>T (p.Pro585Ser)
c.1750C>T (p.Pro584Ser)
c.*874C>T (n.*874C>T)
c.*1409C>T (n.*1409C>T)
c.1962C>T (n.1962C>T)
c.1582C>T (p.Pro528Ser)
c.1630C>T (p.Pro544Ser)
c.1726C>T (p.Pro576Ser)
c.1672C>T (p.Pro558Ser)
c.1633C>T (p.Pro545Ser)
COSMIC COSMIC
18g.33739155C>ACA402176255ASXL3c.1754C>A (p.Pro585Gln)
c.1751C>A (p.Pro584Gln)
c.*875C>A (n.*875C>A)
c.*1410C>A (n.*1410C>A)
c.1963C>A (n.1963C>A)
c.1583C>A (p.Pro528Gln)
c.1631C>A (p.Pro544Gln)
c.1727C>A (p.Pro576Gln)
c.1673C>A (p.Pro558Gln)
c.1634C>A (p.Pro545Gln)
18g.33739155C>GCA402176254ASXL3c.1754C>G (p.Pro585Arg)
c.1751C>G (p.Pro584Arg)
c.*875C>G (n.*875C>G)
c.*1410C>G (n.*1410C>G)
c.1963C>G (n.1963C>G)
c.1583C>G (p.Pro528Arg)
c.1631C>G (p.Pro544Arg)
c.1727C>G (p.Pro576Arg)
c.1673C>G (p.Pro558Arg)
c.1634C>G (p.Pro545Arg)
18g.33739155C>TCA402176253ASXL3c.1754C>T (p.Pro585Leu)
c.1751C>T (p.Pro584Leu)
c.*875C>T (n.*875C>T)
c.*1410C>T (n.*1410C>T)
c.1963C>T (n.1963C>T)
c.1583C>T (p.Pro528Leu)
c.1631C>T (p.Pro544Leu)
c.1727C>T (p.Pro576Leu)
c.1673C>T (p.Pro558Leu)
c.1634C>T (p.Pro545Leu)
18g.33739156A>CCA503768627ASXL3c.1755A>C (p.Pro585=)
c.1752A>C (p.Pro584=)
c.*876A>C (n.*876A>C)
c.*1411A>C (n.*1411A>C)
c.1964A>C (n.1964A>C)
c.1584A>C (p.Pro528=)
c.1632A>C (p.Pro544=)
c.1728A>C (p.Pro576=)
c.1674A>C (p.Pro558=)
c.1635A>C (p.Pro545=)
18g.33739156A>GCA503768629ASXL3c.1755A>G (p.Pro585=)
c.1752A>G (p.Pro584=)
c.*876A>G (n.*876A>G)
c.*1411A>G (n.*1411A>G)
c.1964A>G (n.1964A>G)
c.1584A>G (p.Pro528=)
c.1632A>G (p.Pro544=)
c.1728A>G (p.Pro576=)
c.1674A>G (p.Pro558=)
c.1635A>G (p.Pro545=)
18g.33739156A>TCA503768630ASXL3c.1755A>T (p.Pro585=)
c.1752A>T (p.Pro584=)
c.*876A>T (n.*876A>T)
c.*1411A>T (n.*1411A>T)
c.1964A>T (n.1964A>T)
c.1584A>T (p.Pro528=)
c.1632A>T (p.Pro544=)
c.1728A>T (p.Pro576=)
c.1674A>T (p.Pro558=)
c.1635A>T (p.Pro545=)
18g.33739158delCA2739291099ASXL3c.1757del (p.Asn586MetfsTer6)
c.1754del (p.Asn585MetfsTer6)
c.*878del (n.*878del)
c.*1413del (n.*1413del)
c.1966del (n.1966del)
c.1586del (p.Asn529MetfsTer6)
c.1634del (p.Asn545MetfsTer6)
c.1730del (p.Asn577MetfsTer6)
c.1676del (p.Asn559MetfsTer6)
c.1637del (p.Asn546MetfsTer6)
18g.33739157A=CA2294855849ASXL3c.1756A= (p.Asn586=)
c.1753A= (p.Asn585=)
c.*877A= (n.*877A=)
c.*1412A= (n.*1412A=)
c.1965A= (n.1965A=)
c.1585A= (p.Asn529=)
c.1633A= (p.Asn545=)
c.1729A= (p.Asn577=)
c.1675A= (p.Asn559=)
c.1636A= (p.Asn546=)
18g.33739157A>CCA402176256ASXL3c.1756A>C (p.Asn586His)
c.1753A>C (p.Asn585His)
c.*877A>C (n.*877A>C)
c.*1412A>C (n.*1412A>C)
c.1965A>C (n.1965A>C)
c.1585A>C (p.Asn529His)
c.1633A>C (p.Asn545His)
c.1729A>C (p.Asn577His)
c.1675A>C (p.Asn559His)
c.1636A>C (p.Asn546His)
18g.33739157A>GCA402176257ASXL3c.1756A>G (p.Asn586Asp)
c.1753A>G (p.Asn585Asp)
c.*877A>G (n.*877A>G)
c.*1412A>G (n.*1412A>G)
c.1965A>G (n.1965A>G)
c.1585A>G (p.Asn529Asp)
c.1633A>G (p.Asn545Asp)
c.1729A>G (p.Asn577Asp)
c.1675A>G (p.Asn559Asp)
c.1636A>G (p.Asn546Asp)
dbSNP
18g.33739157A>TCA402176258ASXL3c.1756A>T (p.Asn586Tyr)
c.1753A>T (p.Asn585Tyr)
c.*877A>T (n.*877A>T)
c.*1412A>T (n.*1412A>T)
c.1965A>T (n.1965A>T)
c.1585A>T (p.Asn529Tyr)
c.1633A>T (p.Asn545Tyr)
c.1729A>T (p.Asn577Tyr)
c.1675A>T (p.Asn559Tyr)
c.1636A>T (p.Asn546Tyr)
18g.33739158A=CA2294855850ASXL3c.1757A= (p.Asn586=)
c.1754A= (p.Asn585=)
c.*878A= (n.*878A=)
c.*1413A= (n.*1413A=)
c.1966A= (n.1966A=)
c.1586A= (p.Asn529=)
c.1634A= (p.Asn545=)
c.1730A= (p.Asn577=)
c.1676A= (p.Asn559=)
c.1637A= (p.Asn546=)
18g.33739158A>CCA402176259ASXL3c.1757A>C (p.Asn586Thr)
c.1754A>C (p.Asn585Thr)
c.*878A>C (n.*878A>C)
c.*1413A>C (n.*1413A>C)
c.1966A>C (n.1966A>C)
c.1586A>C (p.Asn529Thr)
c.1634A>C (p.Asn545Thr)
c.1730A>C (p.Asn577Thr)
c.1676A>C (p.Asn559Thr)
c.1637A>C (p.Asn546Thr)
gnomAD v4
18g.33739158A>GCA402176260ASXL3c.1757A>G (p.Asn586Ser)
c.1754A>G (p.Asn585Ser)
c.*878A>G (n.*878A>G)
c.*1413A>G (n.*1413A>G)
c.1966A>G (n.1966A>G)
c.1586A>G (p.Asn529Ser)
c.1634A>G (p.Asn545Ser)
c.1730A>G (p.Asn577Ser)
c.1676A>G (p.Asn559Ser)
c.1637A>G (p.Asn546Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739158A>TCA402176261ASXL3c.1757A>T (p.Asn586Ile)
c.1754A>T (p.Asn585Ile)
c.*878A>T (n.*878A>T)
c.*1413A>T (n.*1413A>T)
c.1966A>T (n.1966A>T)
c.1586A>T (p.Asn529Ile)
c.1634A>T (p.Asn545Ile)
c.1730A>T (p.Asn577Ile)
c.1676A>T (p.Asn559Ile)
c.1637A>T (p.Asn546Ile)
gnomAD v4
18g.33739159T>ACA402176262ASXL3c.1758T>A (p.Asn586Lys)
c.1755T>A (p.Asn585Lys)
c.*879T>A (n.*879T>A)
c.*1414T>A (n.*1414T>A)
c.1967T>A (n.1967T>A)
c.1587T>A (p.Asn529Lys)
c.1635T>A (p.Asn545Lys)
c.1731T>A (p.Asn577Lys)
c.1677T>A (p.Asn559Lys)
c.1638T>A (p.Asn546Lys)
18g.33739159T>CCA503768637ASXL3c.1758T>C (p.Asn586=)
c.1755T>C (p.Asn585=)
c.*879T>C (n.*879T>C)
c.*1414T>C (n.*1414T>C)
c.1967T>C (n.1967T>C)
c.1587T>C (p.Asn529=)
c.1635T>C (p.Asn545=)
c.1731T>C (p.Asn577=)
c.1677T>C (p.Asn559=)
c.1638T>C (p.Asn546=)
dbSNP gnomAD v4
18g.33739159T>GCA402176263ASXL3c.1758T>G (p.Asn586Lys)
c.1755T>G (p.Asn585Lys)
c.*879T>G (n.*879T>G)
c.*1414T>G (n.*1414T>G)
c.1967T>G (n.1967T>G)
c.1587T>G (p.Asn529Lys)
c.1635T>G (p.Asn545Lys)
c.1731T>G (p.Asn577Lys)
c.1677T>G (p.Asn559Lys)
c.1638T>G (p.Asn546Lys)
18g.33739159T=CA2294855851ASXL3c.1758T= (p.Asn586=)
c.1755T= (p.Asn585=)
c.*879T= (n.*879T=)
c.*1414T= (n.*1414T=)
c.1967T= (n.1967T=)
c.1587T= (p.Asn529=)
c.1635T= (p.Asn545=)
c.1731T= (p.Asn577=)
c.1677T= (p.Asn559=)
c.1638T= (p.Asn546=)
18g.33739160G>ACA402176264ASXL3c.1759G>A (p.Glu587Lys)
c.1756G>A (p.Glu586Lys)
c.*880G>A (n.*880G>A)
c.*1415G>A (n.*1415G>A)
c.1968G>A (n.1968G>A)
c.1588G>A (p.Glu530Lys)
c.1636G>A (p.Glu546Lys)
c.1732G>A (p.Glu578Lys)
c.1678G>A (p.Glu560Lys)
c.1639G>A (p.Glu547Lys)
COSMIC COSMIC
18g.33739160G>CCA402176265ASXL3c.1759G>C (p.Glu587Gln)
c.1756G>C (p.Glu586Gln)
c.*880G>C (n.*880G>C)
c.*1415G>C (n.*1415G>C)
c.1968G>C (n.1968G>C)
c.1588G>C (p.Glu530Gln)
c.1636G>C (p.Glu546Gln)
c.1732G>C (p.Glu578Gln)
c.1678G>C (p.Glu560Gln)
c.1639G>C (p.Glu547Gln)
18g.33739160G>TCA402176266ASXL3c.1759G>T (p.Glu587Ter)
c.1756G>T (p.Glu586Ter)
c.*880G>T (n.*880G>T)
c.*1415G>T (n.*1415G>T)
c.1968G>T (n.1968G>T)
c.1588G>T (p.Glu530Ter)
c.1636G>T (p.Glu546Ter)
c.1732G>T (p.Glu578Ter)
c.1678G>T (p.Glu560Ter)
c.1639G>T (p.Glu547Ter)
18g.33739161A>CCA402176267ASXL3c.1760A>C (p.Glu587Ala)
c.1757A>C (p.Glu586Ala)
c.*881A>C (n.*881A>C)
c.*1416A>C (n.*1416A>C)
c.1969A>C (n.1969A>C)
c.1589A>C (p.Glu530Ala)
c.1637A>C (p.Glu546Ala)
c.1733A>C (p.Glu578Ala)
c.1679A>C (p.Glu560Ala)
c.1640A>C (p.Glu547Ala)
18g.33739161A>GCA402176268ASXL3c.1760A>G (p.Glu587Gly)
c.1757A>G (p.Glu586Gly)
c.*881A>G (n.*881A>G)
c.*1416A>G (n.*1416A>G)
c.1969A>G (n.1969A>G)
c.1589A>G (p.Glu530Gly)
c.1637A>G (p.Glu546Gly)
c.1733A>G (p.Glu578Gly)
c.1679A>G (p.Glu560Gly)
c.1640A>G (p.Glu547Gly)
18g.33739161A>TCA402176269ASXL3c.1760A>T (p.Glu587Val)
c.1757A>T (p.Glu586Val)
c.*881A>T (n.*881A>T)
c.*1416A>T (n.*1416A>T)
c.1969A>T (n.1969A>T)
c.1589A>T (p.Glu530Val)
c.1637A>T (p.Glu546Val)
c.1733A>T (p.Glu578Val)
c.1679A>T (p.Glu560Val)
c.1640A>T (p.Glu547Val)
18g.33739162A>CCA402176271ASXL3c.1761A>C (p.Glu587Asp)
c.1758A>C (p.Glu586Asp)
c.*882A>C (n.*882A>C)
c.*1417A>C (n.*1417A>C)
c.1970A>C (n.1970A>C)
c.1590A>C (p.Glu530Asp)
c.1638A>C (p.Glu546Asp)
c.1734A>C (p.Glu578Asp)
c.1680A>C (p.Glu560Asp)
c.1641A>C (p.Glu547Asp)
18g.33739162A>GCA503768642ASXL3c.1761A>G (p.Glu587=)
c.1758A>G (p.Glu586=)
c.*882A>G (n.*882A>G)
c.*1417A>G (n.*1417A>G)
c.1970A>G (n.1970A>G)
c.1590A>G (p.Glu530=)
c.1638A>G (p.Glu546=)
c.1734A>G (p.Glu578=)
c.1680A>G (p.Glu560=)
c.1641A>G (p.Glu547=)
gnomAD v4
18g.33739162A>TCA402176270ASXL3c.1761A>T (p.Glu587Asp)
c.1758A>T (p.Glu586Asp)
c.*882A>T (n.*882A>T)
c.*1417A>T (n.*1417A>T)
c.1970A>T (n.1970A>T)
c.1590A>T (p.Glu530Asp)
c.1638A>T (p.Glu546Asp)
c.1734A>T (p.Glu578Asp)
c.1680A>T (p.Glu560Asp)
c.1641A>T (p.Glu547Asp)
18g.33739163G>ACA402176272ASXL3c.1762G>A (p.Gly588Arg)
c.1759G>A (p.Gly587Arg)
c.*883G>A (n.*883G>A)
c.*1418G>A (n.*1418G>A)
c.1971G>A (n.1971G>A)
c.1591G>A (p.Gly531Arg)
c.1639G>A (p.Gly547Arg)
c.1735G>A (p.Gly579Arg)
c.1681G>A (p.Gly561Arg)
c.1642G>A (p.Gly548Arg)
gnomAD v4
18g.33739163G>CCA402176273ASXL3c.1762G>C (p.Gly588Arg)
c.1759G>C (p.Gly587Arg)
c.*883G>C (n.*883G>C)
c.*1418G>C (n.*1418G>C)
c.1971G>C (n.1971G>C)
c.1591G>C (p.Gly531Arg)
c.1639G>C (p.Gly547Arg)
c.1735G>C (p.Gly579Arg)
c.1681G>C (p.Gly561Arg)
c.1642G>C (p.Gly548Arg)
18g.33739163G>TCA402176274ASXL3c.1762G>T (p.Gly588Ter)
c.1759G>T (p.Gly587Ter)
c.*883G>T (n.*883G>T)
c.*1418G>T (n.*1418G>T)
c.1971G>T (n.1971G>T)
c.1591G>T (p.Gly531Ter)
c.1639G>T (p.Gly547Ter)
c.1735G>T (p.Gly579Ter)
c.1681G>T (p.Gly561Ter)
c.1642G>T (p.Gly548Ter)
COSMIC COSMIC
18g.33739164G>ACA8933810ASXL3c.1763G>A (p.Gly588Glu)
c.1760G>A (p.Gly587Glu)
c.*884G>A (n.*884G>A)
c.*1419G>A (n.*1419G>A)
c.1972G>A (n.1972G>A)
c.1592G>A (p.Gly531Glu)
c.1640G>A (p.Gly547Glu)
c.1736G>A (p.Gly579Glu)
c.1682G>A (p.Gly561Glu)
c.1643G>A (p.Gly548Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739164G>CCA402176275ASXL3c.1763G>C (p.Gly588Ala)
c.1760G>C (p.Gly587Ala)
c.*884G>C (n.*884G>C)
c.*1419G>C (n.*1419G>C)
c.1972G>C (n.1972G>C)
c.1592G>C (p.Gly531Ala)
c.1640G>C (p.Gly547Ala)
c.1736G>C (p.Gly579Ala)
c.1682G>C (p.Gly561Ala)
c.1643G>C (p.Gly548Ala)
18g.33739164G=CA2294855852ASXL3c.1763G= (p.Gly588=)
c.1760G= (p.Gly587=)
c.*884G= (n.*884G=)
c.*1419G= (n.*1419G=)
c.1972G= (n.1972G=)
c.1592G= (p.Gly531=)
c.1640G= (p.Gly547=)
c.1736G= (p.Gly579=)
c.1682G= (p.Gly561=)
c.1643G= (p.Gly548=)
18g.33739164G>TCA402176276ASXL3c.1763G>T (p.Gly588Val)
c.1760G>T (p.Gly587Val)
c.*884G>T (n.*884G>T)
c.*1419G>T (n.*1419G>T)
c.1972G>T (n.1972G>T)
c.1592G>T (p.Gly531Val)
c.1640G>T (p.Gly547Val)
c.1736G>T (p.Gly579Val)
c.1682G>T (p.Gly561Val)
c.1643G>T (p.Gly548Val)
COSMIC COSMIC
18g.33739165A>CCA503768650ASXL3c.1764A>C (p.Gly588=)
c.1761A>C (p.Gly587=)
c.*885A>C (n.*885A>C)
c.*1420A>C (n.*1420A>C)
c.1973A>C (n.1973A>C)
c.1593A>C (p.Gly531=)
c.1641A>C (p.Gly547=)
c.1737A>C (p.Gly579=)
c.1683A>C (p.Gly561=)
c.1644A>C (p.Gly548=)
18g.33739165A>GCA503768646ASXL3c.1764A>G (p.Gly588=)
c.1761A>G (p.Gly587=)
c.*885A>G (n.*885A>G)
c.*1420A>G (n.*1420A>G)
c.1973A>G (n.1973A>G)
c.1593A>G (p.Gly531=)
c.1641A>G (p.Gly547=)
c.1737A>G (p.Gly579=)
c.1683A>G (p.Gly561=)
c.1644A>G (p.Gly548=)
18g.33739165A>TCA503768649ASXL3c.1764A>T (p.Gly588=)
c.1761A>T (p.Gly587=)
c.*885A>T (n.*885A>T)
c.*1420A>T (n.*1420A>T)
c.1973A>T (n.1973A>T)
c.1593A>T (p.Gly531=)
c.1641A>T (p.Gly547=)
c.1737A>T (p.Gly579=)
c.1683A>T (p.Gly561=)
c.1644A>T (p.Gly548=)
18g.33739166A=CA2294855853ASXL3c.1765A= (p.Ile589=)
c.1762A= (p.Ile588=)
c.*886A= (n.*886A=)
c.*1421A= (n.*1421A=)
c.1974A= (n.1974A=)
c.1594A= (p.Ile532=)
c.1642A= (p.Ile548=)
c.1738A= (p.Ile580=)
c.1684A= (p.Ile562=)
c.1645A= (p.Ile549=)
18g.33739166A>CCA402176278ASXL3c.1765A>C (p.Ile589Leu)
c.1762A>C (p.Ile588Leu)
c.*886A>C (n.*886A>C)
c.*1421A>C (n.*1421A>C)
c.1974A>C (n.1974A>C)
c.1594A>C (p.Ile532Leu)
c.1642A>C (p.Ile548Leu)
c.1738A>C (p.Ile580Leu)
c.1684A>C (p.Ile562Leu)
c.1645A>C (p.Ile549Leu)
gnomAD v4
18g.33739166A>GCA8933811ASXL3c.1765A>G (p.Ile589Val)
c.1762A>G (p.Ile588Val)
c.*886A>G (n.*886A>G)
c.*1421A>G (n.*1421A>G)
c.1974A>G (n.1974A>G)
c.1594A>G (p.Ile532Val)
c.1642A>G (p.Ile548Val)
c.1738A>G (p.Ile580Val)
c.1684A>G (p.Ile562Val)
c.1645A>G (p.Ile549Val)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739166A>TCA402176277ASXL3c.1765A>T (p.Ile589Phe)
c.1762A>T (p.Ile588Phe)
c.*886A>T (n.*886A>T)
c.*1421A>T (n.*1421A>T)
c.1974A>T (n.1974A>T)
c.1594A>T (p.Ile532Phe)
c.1642A>T (p.Ile548Phe)
c.1738A>T (p.Ile580Phe)
c.1684A>T (p.Ile562Phe)
c.1645A>T (p.Ile549Phe)
18g.33739167T>ACA402176279ASXL3c.1766T>A (p.Ile589Asn)
c.1763T>A (p.Ile588Asn)
c.*887T>A (n.*887T>A)
c.*1422T>A (n.*1422T>A)
c.1975T>A (n.1975T>A)
c.1595T>A (p.Ile532Asn)
c.1643T>A (p.Ile548Asn)
c.1739T>A (p.Ile580Asn)
c.1685T>A (p.Ile562Asn)
c.1646T>A (p.Ile549Asn)
18g.33739167T>CCA402176280ASXL3c.1766T>C (p.Ile589Thr)
c.1763T>C (p.Ile588Thr)
c.*887T>C (n.*887T>C)
c.*1422T>C (n.*1422T>C)
c.1975T>C (n.1975T>C)
c.1595T>C (p.Ile532Thr)
c.1643T>C (p.Ile548Thr)
c.1739T>C (p.Ile580Thr)
c.1685T>C (p.Ile562Thr)
c.1646T>C (p.Ile549Thr)
dbSNP gnomAD v2 gnomAD v4
18g.33739167T>GCA402176281ASXL3c.1766T>G (p.Ile589Ser)
c.1763T>G (p.Ile588Ser)
c.*887T>G (n.*887T>G)
c.*1422T>G (n.*1422T>G)
c.1975T>G (n.1975T>G)
c.1595T>G (p.Ile532Ser)
c.1643T>G (p.Ile548Ser)
c.1739T>G (p.Ile580Ser)
c.1685T>G (p.Ile562Ser)
c.1646T>G (p.Ile549Ser)
18g.33739167T=CA2294855854ASXL3c.1766T= (p.Ile589=)
c.1763T= (p.Ile588=)
c.*887T= (n.*887T=)
c.*1422T= (n.*1422T=)
c.1975T= (n.1975T=)
c.1595T= (p.Ile532=)
c.1643T= (p.Ile548=)
c.1739T= (p.Ile580=)
c.1685T= (p.Ile562=)
c.1646T= (p.Ile549=)
18g.33739168T>ACA503768666ASXL3c.1767T>A (p.Ile589=)
c.1764T>A (p.Ile588=)
c.*888T>A (n.*888T>A)
c.*1423T>A (n.*1423T>A)
c.1976T>A (n.1976T>A)
c.1596T>A (p.Ile532=)
c.1644T>A (p.Ile548=)
c.1740T>A (p.Ile580=)
c.1686T>A (p.Ile562=)
c.1647T>A (p.Ile549=)
18g.33739168T>CCA297787009ASXL3c.1767T>C (p.Ile589=)
c.1764T>C (p.Ile588=)
c.*888T>C (n.*888T>C)
c.*1423T>C (n.*1423T>C)
c.1976T>C (n.1976T>C)
c.1596T>C (p.Ile532=)
c.1644T>C (p.Ile548=)
c.1740T>C (p.Ile580=)
c.1686T>C (p.Ile562=)
c.1647T>C (p.Ile549=)
dbSNP gnomAD v4
18g.33739168T>GCA402176282ASXL3c.1767T>G (p.Ile589Met)
c.1764T>G (p.Ile588Met)
c.*888T>G (n.*888T>G)
c.*1423T>G (n.*1423T>G)
c.1976T>G (n.1976T>G)
c.1596T>G (p.Ile532Met)
c.1644T>G (p.Ile548Met)
c.1740T>G (p.Ile580Met)
c.1686T>G (p.Ile562Met)
c.1647T>G (p.Ile549Met)
dbSNP gnomAD v3 gnomAD v4
18g.33739168T=CA2294855855ASXL3c.1767T= (p.Ile589=)
c.1764T= (p.Ile588=)
c.*888T= (n.*888T=)
c.*1423T= (n.*1423T=)
c.1976T= (n.1976T=)
c.1596T= (p.Ile532=)
c.1644T= (p.Ile548=)
c.1740T= (p.Ile580=)
c.1686T= (p.Ile562=)
c.1647T= (p.Ile549=)
18g.33739169G>ACA402176283ASXL3c.1768G>A (p.Ala590Thr)
c.1765G>A (p.Ala589Thr)
c.*889G>A (n.*889G>A)
c.*1424G>A (n.*1424G>A)
c.1977G>A (n.1977G>A)
c.1597G>A (p.Ala533Thr)
c.1645G>A (p.Ala549Thr)
c.1741G>A (p.Ala581Thr)
c.1687G>A (p.Ala563Thr)
c.1648G>A (p.Ala550Thr)
18g.33739169G>CCA402176285ASXL3c.1768G>C (p.Ala590Pro)
c.1765G>C (p.Ala589Pro)
c.*889G>C (n.*889G>C)
c.*1424G>C (n.*1424G>C)
c.1977G>C (n.1977G>C)
c.1597G>C (p.Ala533Pro)
c.1645G>C (p.Ala549Pro)
c.1741G>C (p.Ala581Pro)
c.1687G>C (p.Ala563Pro)
c.1648G>C (p.Ala550Pro)
18g.33739169G>TCA402176284ASXL3c.1768G>T (p.Ala590Ser)
c.1765G>T (p.Ala589Ser)
c.*889G>T (n.*889G>T)
c.*1424G>T (n.*1424G>T)
c.1977G>T (n.1977G>T)
c.1597G>T (p.Ala533Ser)
c.1645G>T (p.Ala549Ser)
c.1741G>T (p.Ala581Ser)
c.1687G>T (p.Ala563Ser)
c.1648G>T (p.Ala550Ser)
gnomAD v4
18g.33739170C>ACA402176286ASXL3c.1769C>A (p.Ala590Asp)
c.1766C>A (p.Ala589Asp)
c.*890C>A (n.*890C>A)
c.*1425C>A (n.*1425C>A)
c.1978C>A (n.1978C>A)
c.1598C>A (p.Ala533Asp)
c.1646C>A (p.Ala549Asp)
c.1742C>A (p.Ala581Asp)
c.1688C>A (p.Ala563Asp)
c.1649C>A (p.Ala550Asp)
18g.33739170C>GCA402176287ASXL3c.1769C>G (p.Ala590Gly)
c.1766C>G (p.Ala589Gly)
c.*890C>G (n.*890C>G)
c.*1425C>G (n.*1425C>G)
c.1978C>G (n.1978C>G)
c.1598C>G (p.Ala533Gly)
c.1646C>G (p.Ala549Gly)
c.1742C>G (p.Ala581Gly)
c.1688C>G (p.Ala563Gly)
c.1649C>G (p.Ala550Gly)
gnomAD v4
18g.33739170C>TCA402176288ASXL3c.1769C>T (p.Ala590Val)
c.1766C>T (p.Ala589Val)
c.*890C>T (n.*890C>T)
c.*1425C>T (n.*1425C>T)
c.1978C>T (n.1978C>T)
c.1598C>T (p.Ala533Val)
c.1646C>T (p.Ala549Val)
c.1742C>T (p.Ala581Val)
c.1688C>T (p.Ala563Val)
c.1649C>T (p.Ala550Val)
18g.33739171T>ACA503768676ASXL3c.1770T>A (p.Ala590=)
c.1767T>A (p.Ala589=)
c.*891T>A (n.*891T>A)
c.*1426T>A (n.*1426T>A)
c.1979T>A (n.1979T>A)
c.1599T>A (p.Ala533=)
c.1647T>A (p.Ala549=)
c.1743T>A (p.Ala581=)
c.1689T>A (p.Ala563=)
c.1650T>A (p.Ala550=)
18g.33739171T>CCA503768675ASXL3c.1770T>C (p.Ala590=)
c.1767T>C (p.Ala589=)
c.*891T>C (n.*891T>C)
c.*1426T>C (n.*1426T>C)
c.1979T>C (n.1979T>C)
c.1599T>C (p.Ala533=)
c.1647T>C (p.Ala549=)
c.1743T>C (p.Ala581=)
c.1689T>C (p.Ala563=)
c.1650T>C (p.Ala550=)
18g.33739171T>GCA503768674ASXL3c.1770T>G (p.Ala590=)
c.1767T>G (p.Ala589=)
c.*891T>G (n.*891T>G)
c.*1426T>G (n.*1426T>G)
c.1979T>G (n.1979T>G)
c.1599T>G (p.Ala533=)
c.1647T>G (p.Ala549=)
c.1743T>G (p.Ala581=)
c.1689T>G (p.Ala563=)
c.1650T>G (p.Ala550=)
18g.33739172A=CA2294855856ASXL3c.1771A= (p.Ile591=)
c.1768A= (p.Ile590=)
c.*892A= (n.*892A=)
c.*1427A= (n.*1427A=)
c.1980A= (n.1980A=)
c.1600A= (p.Ile534=)
c.1648A= (p.Ile550=)
c.1744A= (p.Ile582=)
c.1690A= (p.Ile564=)
c.1651A= (p.Ile551=)
18g.33739172A>CCA402176289ASXL3c.1771A>C (p.Ile591Leu)
c.1768A>C (p.Ile590Leu)
c.*892A>C (n.*892A>C)
c.*1427A>C (n.*1427A>C)
c.1980A>C (n.1980A>C)
c.1600A>C (p.Ile534Leu)
c.1648A>C (p.Ile550Leu)
c.1744A>C (p.Ile582Leu)
c.1690A>C (p.Ile564Leu)
c.1651A>C (p.Ile551Leu)
18g.33739172A>GCA402176290ASXL3c.1771A>G (p.Ile591Val)
c.1768A>G (p.Ile590Val)
c.*892A>G (n.*892A>G)
c.*1427A>G (n.*1427A>G)
c.1980A>G (n.1980A>G)
c.1600A>G (p.Ile534Val)
c.1648A>G (p.Ile550Val)
c.1744A>G (p.Ile582Val)
c.1690A>G (p.Ile564Val)
c.1651A>G (p.Ile551Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33739172A>TCA402176291ASXL3c.1771A>T (p.Ile591Leu)
c.1768A>T (p.Ile590Leu)
c.*892A>T (n.*892A>T)
c.*1427A>T (n.*1427A>T)
c.1980A>T (n.1980A>T)
c.1600A>T (p.Ile534Leu)
c.1648A>T (p.Ile550Leu)
c.1744A>T (p.Ile582Leu)
c.1690A>T (p.Ile564Leu)
c.1651A>T (p.Ile551Leu)
18g.33739173T>ACA402176292ASXL3c.1772T>A (p.Ile591Lys)
c.1769T>A (p.Ile590Lys)
c.*893T>A (n.*893T>A)
c.*1428T>A (n.*1428T>A)
c.1981T>A (n.1981T>A)
c.1601T>A (p.Ile534Lys)
c.1649T>A (p.Ile550Lys)
c.1745T>A (p.Ile582Lys)
c.1691T>A (p.Ile564Lys)
c.1652T>A (p.Ile551Lys)
18g.33739173T>CCA8933812ASXL3c.1772T>C (p.Ile591Thr)
c.1769T>C (p.Ile590Thr)
c.*893T>C (n.*893T>C)
c.*1428T>C (n.*1428T>C)
c.1981T>C (n.1981T>C)
c.1601T>C (p.Ile534Thr)
c.1649T>C (p.Ile550Thr)
c.1745T>C (p.Ile582Thr)
c.1691T>C (p.Ile564Thr)
c.1652T>C (p.Ile551Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739173T>GCA402176293ASXL3c.1772T>G (p.Ile591Arg)
c.1769T>G (p.Ile590Arg)
c.*893T>G (n.*893T>G)
c.*1428T>G (n.*1428T>G)
c.1981T>G (n.1981T>G)
c.1601T>G (p.Ile534Arg)
c.1649T>G (p.Ile550Arg)
c.1745T>G (p.Ile582Arg)
c.1691T>G (p.Ile564Arg)
c.1652T>G (p.Ile551Arg)
18g.33739173T=CA2294855857ASXL3c.1772T= (p.Ile591=)
c.1769T= (p.Ile590=)
c.*893T= (n.*893T=)
c.*1428T= (n.*1428T=)
c.1981T= (n.1981T=)
c.1601T= (p.Ile534=)
c.1649T= (p.Ile550=)
c.1745T= (p.Ile582=)
c.1691T= (p.Ile564=)
c.1652T= (p.Ile551=)
18g.33739174A>CCA503768687ASXL3c.1773A>C (p.Ile591=)
c.1770A>C (p.Ile590=)
c.*894A>C (n.*894A>C)
c.*1429A>C (n.*1429A>C)
c.1982A>C (n.1982A>C)
c.1602A>C (p.Ile534=)
c.1650A>C (p.Ile550=)
c.1746A>C (p.Ile582=)
c.1692A>C (p.Ile564=)
c.1653A>C (p.Ile551=)
18g.33739174A>GCA402176294ASXL3c.1773A>G (p.Ile591Met)
c.1770A>G (p.Ile590Met)
c.*894A>G (n.*894A>G)
c.*1429A>G (n.*1429A>G)
c.1982A>G (n.1982A>G)
c.1602A>G (p.Ile534Met)
c.1650A>G (p.Ile550Met)
c.1746A>G (p.Ile582Met)
c.1692A>G (p.Ile564Met)
c.1653A>G (p.Ile551Met)
18g.33739174A>TCA503768686ASXL3c.1773A>T (p.Ile591=)
c.1770A>T (p.Ile590=)
c.*894A>T (n.*894A>T)
c.*1429A>T (n.*1429A>T)
c.1982A>T (n.1982A>T)
c.1602A>T (p.Ile534=)
c.1650A>T (p.Ile550=)
c.1746A>T (p.Ile582=)
c.1692A>T (p.Ile564=)
c.1653A>T (p.Ile551=)
18g.33739175G>ACA402176295ASXL3c.1774G>A (p.Asp592Asn)
c.1771G>A (p.Asp591Asn)
c.*895G>A (n.*895G>A)
c.*1430G>A (n.*1430G>A)
c.1983G>A (n.1983G>A)
c.1603G>A (p.Asp535Asn)
c.1651G>A (p.Asp551Asn)
c.1747G>A (p.Asp583Asn)
c.1693G>A (p.Asp565Asn)
c.1654G>A (p.Asp552Asn)
dbSNP gnomAD v2 gnomAD v4
18g.33739175G>CCA402176296ASXL3c.1774G>C (p.Asp592His)
c.1771G>C (p.Asp591His)
c.*895G>C (n.*895G>C)
c.*1430G>C (n.*1430G>C)
c.1983G>C (n.1983G>C)
c.1603G>C (p.Asp535His)
c.1651G>C (p.Asp551His)
c.1747G>C (p.Asp583His)
c.1693G>C (p.Asp565His)
c.1654G>C (p.Asp552His)
18g.33739175G=CA2294855858ASXL3c.1774G= (p.Asp592=)
c.1771G= (p.Asp591=)
c.*895G= (n.*895G=)
c.*1430G= (n.*1430G=)
c.1983G= (n.1983G=)
c.1603G= (p.Asp535=)
c.1651G= (p.Asp551=)
c.1747G= (p.Asp583=)
c.1693G= (p.Asp565=)
c.1654G= (p.Asp552=)
18g.33739175G>TCA402176297ASXL3c.1774G>T (p.Asp592Tyr)
c.1771G>T (p.Asp591Tyr)
c.*895G>T (n.*895G>T)
c.*1430G>T (n.*1430G>T)
c.1983G>T (n.1983G>T)
c.1603G>T (p.Asp535Tyr)
c.1651G>T (p.Asp551Tyr)
c.1747G>T (p.Asp583Tyr)
c.1693G>T (p.Asp565Tyr)
c.1654G>T (p.Asp552Tyr)
18g.33739176A>CCA402176300ASXL3c.1775A>C (p.Asp592Ala)
c.1772A>C (p.Asp591Ala)
c.*896A>C (n.*896A>C)
c.*1431A>C (n.*1431A>C)
c.1984A>C (n.1984A>C)
c.1604A>C (p.Asp535Ala)
c.1652A>C (p.Asp551Ala)
c.1748A>C (p.Asp583Ala)
c.1694A>C (p.Asp565Ala)
c.1655A>C (p.Asp552Ala)
18g.33739176A>GCA402176298ASXL3c.1775A>G (p.Asp592Gly)
c.1772A>G (p.Asp591Gly)
c.*896A>G (n.*896A>G)
c.*1431A>G (n.*1431A>G)
c.1984A>G (n.1984A>G)
c.1604A>G (p.Asp535Gly)
c.1652A>G (p.Asp551Gly)
c.1748A>G (p.Asp583Gly)
c.1694A>G (p.Asp565Gly)
c.1655A>G (p.Asp552Gly)
18g.33739176A>TCA402176299ASXL3c.1775A>T (p.Asp592Val)
c.1772A>T (p.Asp591Val)
c.*896A>T (n.*896A>T)
c.*1431A>T (n.*1431A>T)
c.1984A>T (n.1984A>T)
c.1604A>T (p.Asp535Val)
c.1652A>T (p.Asp551Val)
c.1748A>T (p.Asp583Val)
c.1694A>T (p.Asp565Val)
c.1655A>T (p.Asp552Val)
18g.33739177T>ACA402176301ASXL3c.1776T>A (p.Asp592Glu)
c.1773T>A (p.Asp591Glu)
c.*897T>A (n.*897T>A)
c.*1432T>A (n.*1432T>A)
c.1985T>A (n.1985T>A)
c.1605T>A (p.Asp535Glu)
c.1653T>A (p.Asp551Glu)
c.1749T>A (p.Asp583Glu)
c.1695T>A (p.Asp565Glu)
c.1656T>A (p.Asp552Glu)
18g.33739177T>CCA503768698ASXL3c.1776T>C (p.Asp592=)
c.1773T>C (p.Asp591=)
c.*897T>C (n.*897T>C)
c.*1432T>C (n.*1432T>C)
c.1985T>C (n.1985T>C)
c.1605T>C (p.Asp535=)
c.1653T>C (p.Asp551=)
c.1749T>C (p.Asp583=)
c.1695T>C (p.Asp565=)
c.1656T>C (p.Asp552=)
18g.33739177T>GCA402176302ASXL3c.1776T>G (p.Asp592Glu)
c.1773T>G (p.Asp591Glu)
c.*897T>G (n.*897T>G)
c.*1432T>G (n.*1432T>G)
c.1985T>G (n.1985T>G)
c.1605T>G (p.Asp535Glu)
c.1653T>G (p.Asp551Glu)
c.1749T>G (p.Asp583Glu)
c.1695T>G (p.Asp565Glu)
c.1656T>G (p.Asp552Glu)

Number of alleles fetched