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.33738997_33739000delinsAGTTCA2294855777ASXL3c.1596_1599delinsAGTT (p.Thr532=)
c.1593_1596delinsAGTT (p.Thr531=)
c.*717_*720delinsAGTT (n.*717_*720delinsAGTT)
c.*1252_*1255delinsAGTT (n.*1252_*1255delinsAGTT)
c.1805_1808delinsAGTT (n.1805_1808delinsAGTT)
c.1425_1428delinsAGTT (p.Thr475=)
c.1473_1476delinsAGTT (p.Thr491=)
c.1569_1572delinsAGTT (p.Thr523=)
c.1515_1518delinsAGTT (p.Thr505=)
c.1476_1479delinsAGTT (p.Thr492=)
18g.33739001_33739003delCA503768685ASXL3c.1600_1602del (p.Val534del)
c.1597_1599del (p.Val533del)
c.*721_*723del (n.*721_*723del)
c.*1256_*1258del (n.*1256_*1258del)
c.1809_1811del (n.1809_1811del)
c.1429_1431del (p.Val477del)
c.1477_1479del (p.Val493del)
c.1573_1575del (p.Val525del)
c.1519_1521del (p.Val507del)
c.1480_1482del (p.Val494del)
dbSNP gnomAD v4
18g.33739000T>ACA503768689ASXL3c.1599T>A (p.Val533=)
c.1596T>A (p.Val532=)
c.*720T>A (n.*720T>A)
c.*1255T>A (n.*1255T>A)
c.1808T>A (n.1808T>A)
c.1428T>A (p.Val476=)
c.1476T>A (p.Val492=)
c.1572T>A (p.Val524=)
c.1518T>A (p.Val506=)
c.1479T>A (p.Val493=)
18g.33739000T>CCA503768691ASXL3c.1599T>C (p.Val533=)
c.1596T>C (p.Val532=)
c.*720T>C (n.*720T>C)
c.*1255T>C (n.*1255T>C)
c.1808T>C (n.1808T>C)
c.1428T>C (p.Val476=)
c.1476T>C (p.Val492=)
c.1572T>C (p.Val524=)
c.1518T>C (p.Val506=)
c.1479T>C (p.Val493=)
dbSNP
18g.33739000T>GCA503768693ASXL3c.1599T>G (p.Val533=)
c.1596T>G (p.Val532=)
c.*720T>G (n.*720T>G)
c.*1255T>G (n.*1255T>G)
c.1808T>G (n.1808T>G)
c.1428T>G (p.Val476=)
c.1476T>G (p.Val492=)
c.1572T>G (p.Val524=)
c.1518T>G (p.Val506=)
c.1479T>G (p.Val493=)
18g.33739000T=CA2294855778ASXL3c.1599T= (p.Val533=)
c.1596T= (p.Val532=)
c.*720T= (n.*720T=)
c.*1255T= (n.*1255T=)
c.1808T= (n.1808T=)
c.1428T= (p.Val476=)
c.1476T= (p.Val492=)
c.1572T= (p.Val524=)
c.1518T= (p.Val506=)
c.1479T= (p.Val493=)
18g.33739001G>ACA402175931ASXL3c.1600G>A (p.Val534Ile)
c.1597G>A (p.Val533Ile)
c.*721G>A (n.*721G>A)
c.*1256G>A (n.*1256G>A)
c.1809G>A (n.1809G>A)
c.1429G>A (p.Val477Ile)
c.1477G>A (p.Val493Ile)
c.1573G>A (p.Val525Ile)
c.1519G>A (p.Val507Ile)
c.1480G>A (p.Val494Ile)
gnomAD v4
18g.33739001G>CCA402175929ASXL3c.1600G>C (p.Val534Leu)
c.1597G>C (p.Val533Leu)
c.*721G>C (n.*721G>C)
c.*1256G>C (n.*1256G>C)
c.1809G>C (n.1809G>C)
c.1429G>C (p.Val477Leu)
c.1477G>C (p.Val493Leu)
c.1573G>C (p.Val525Leu)
c.1519G>C (p.Val507Leu)
c.1480G>C (p.Val494Leu)
18g.33739001G>TCA402175930ASXL3c.1600G>T (p.Val534Phe)
c.1597G>T (p.Val533Phe)
c.*721G>T (n.*721G>T)
c.*1256G>T (n.*1256G>T)
c.1809G>T (n.1809G>T)
c.1429G>T (p.Val477Phe)
c.1477G>T (p.Val493Phe)
c.1573G>T (p.Val525Phe)
c.1519G>T (p.Val507Phe)
c.1480G>T (p.Val494Phe)
ClinVar dbSNP
18g.33739002T>ACA402175932ASXL3c.1601T>A (p.Val534Asp)
c.1598T>A (p.Val533Asp)
c.*722T>A (n.*722T>A)
c.*1257T>A (n.*1257T>A)
c.1810T>A (n.1810T>A)
c.1430T>A (p.Val477Asp)
c.1478T>A (p.Val493Asp)
c.1574T>A (p.Val525Asp)
c.1520T>A (p.Val507Asp)
c.1481T>A (p.Val494Asp)
18g.33739002T>CCA402175933ASXL3c.1601T>C (p.Val534Ala)
c.1598T>C (p.Val533Ala)
c.*722T>C (n.*722T>C)
c.*1257T>C (n.*1257T>C)
c.1810T>C (n.1810T>C)
c.1430T>C (p.Val477Ala)
c.1478T>C (p.Val493Ala)
c.1574T>C (p.Val525Ala)
c.1520T>C (p.Val507Ala)
c.1481T>C (p.Val494Ala)
dbSNP gnomAD v3 gnomAD v4
18g.33739002T>GCA402175934ASXL3c.1601T>G (p.Val534Gly)
c.1598T>G (p.Val533Gly)
c.*722T>G (n.*722T>G)
c.*1257T>G (n.*1257T>G)
c.1810T>G (n.1810T>G)
c.1430T>G (p.Val477Gly)
c.1478T>G (p.Val493Gly)
c.1574T>G (p.Val525Gly)
c.1520T>G (p.Val507Gly)
c.1481T>G (p.Val494Gly)
18g.33739002T=CA2294855779ASXL3c.1601T= (p.Val534=)
c.1598T= (p.Val533=)
c.*722T= (n.*722T=)
c.*1257T= (n.*1257T=)
c.1810T= (n.1810T=)
c.1430T= (p.Val477=)
c.1478T= (p.Val493=)
c.1574T= (p.Val525=)
c.1520T= (p.Val507=)
c.1481T= (p.Val494=)
18g.33739003T>ACA503768700ASXL3c.1602T>A (p.Val534=)
c.1599T>A (p.Val533=)
c.*723T>A (n.*723T>A)
c.*1258T>A (n.*1258T>A)
c.1811T>A (n.1811T>A)
c.1431T>A (p.Val477=)
c.1479T>A (p.Val493=)
c.1575T>A (p.Val525=)
c.1521T>A (p.Val507=)
c.1482T>A (p.Val494=)
18g.33739003T>CCA503768702ASXL3c.1602T>C (p.Val534=)
c.1599T>C (p.Val533=)
c.*723T>C (n.*723T>C)
c.*1258T>C (n.*1258T>C)
c.1811T>C (n.1811T>C)
c.1431T>C (p.Val477=)
c.1479T>C (p.Val493=)
c.1575T>C (p.Val525=)
c.1521T>C (p.Val507=)
c.1482T>C (p.Val494=)
18g.33739003T>GCA503768704ASXL3c.1602T>G (p.Val534=)
c.1599T>G (p.Val533=)
c.*723T>G (n.*723T>G)
c.*1258T>G (n.*1258T>G)
c.1811T>G (n.1811T>G)
c.1431T>G (p.Val477=)
c.1479T>G (p.Val493=)
c.1575T>G (p.Val525=)
c.1521T>G (p.Val507=)
c.1482T>G (p.Val494=)
18g.33739004A>CCA402175935ASXL3c.1603A>C (p.Ile535Leu)
c.1600A>C (p.Ile534Leu)
c.*724A>C (n.*724A>C)
c.*1259A>C (n.*1259A>C)
c.1812A>C (n.1812A>C)
c.1432A>C (p.Ile478Leu)
c.1480A>C (p.Ile494Leu)
c.1576A>C (p.Ile526Leu)
c.1522A>C (p.Ile508Leu)
c.1483A>C (p.Ile495Leu)
18g.33739004A>GCA402175936ASXL3c.1603A>G (p.Ile535Val)
c.1600A>G (p.Ile534Val)
c.*724A>G (n.*724A>G)
c.*1259A>G (n.*1259A>G)
c.1812A>G (n.1812A>G)
c.1432A>G (p.Ile478Val)
c.1480A>G (p.Ile494Val)
c.1576A>G (p.Ile526Val)
c.1522A>G (p.Ile508Val)
c.1483A>G (p.Ile495Val)
gnomAD v4
18g.33739004A>TCA402175937ASXL3c.1603A>T (p.Ile535Phe)
c.1600A>T (p.Ile534Phe)
c.*724A>T (n.*724A>T)
c.*1259A>T (n.*1259A>T)
c.1812A>T (n.1812A>T)
c.1432A>T (p.Ile478Phe)
c.1480A>T (p.Ile494Phe)
c.1576A>T (p.Ile526Phe)
c.1522A>T (p.Ile508Phe)
c.1483A>T (p.Ile495Phe)
18g.33739005T>ACA402175938ASXL3c.1604T>A (p.Ile535Asn)
c.1601T>A (p.Ile534Asn)
c.*725T>A (n.*725T>A)
c.*1260T>A (n.*1260T>A)
c.1813T>A (n.1813T>A)
c.1433T>A (p.Ile478Asn)
c.1481T>A (p.Ile494Asn)
c.1577T>A (p.Ile526Asn)
c.1523T>A (p.Ile508Asn)
c.1484T>A (p.Ile495Asn)
18g.33739005T>CCA402175939ASXL3c.1604T>C (p.Ile535Thr)
c.1601T>C (p.Ile534Thr)
c.*725T>C (n.*725T>C)
c.*1260T>C (n.*1260T>C)
c.1813T>C (n.1813T>C)
c.1433T>C (p.Ile478Thr)
c.1481T>C (p.Ile494Thr)
c.1577T>C (p.Ile526Thr)
c.1523T>C (p.Ile508Thr)
c.1484T>C (p.Ile495Thr)
18g.33739005T>GCA402175940ASXL3c.1604T>G (p.Ile535Ser)
c.1601T>G (p.Ile534Ser)
c.*725T>G (n.*725T>G)
c.*1260T>G (n.*1260T>G)
c.1813T>G (n.1813T>G)
c.1433T>G (p.Ile478Ser)
c.1481T>G (p.Ile494Ser)
c.1577T>G (p.Ile526Ser)
c.1523T>G (p.Ile508Ser)
c.1484T>G (p.Ile495Ser)
18g.33739006C>ACA503768710ASXL3c.1605C>A (p.Ile535=)
c.1602C>A (p.Ile534=)
c.*726C>A (n.*726C>A)
c.*1261C>A (n.*1261C>A)
c.1814C>A (n.1814C>A)
c.1434C>A (p.Ile478=)
c.1482C>A (p.Ile494=)
c.1578C>A (p.Ile526=)
c.1524C>A (p.Ile508=)
c.1485C>A (p.Ile495=)
18g.33739006C=CA2294855780ASXL3c.1605C= (p.Ile535=)
c.1602C= (p.Ile534=)
c.*726C= (n.*726C=)
c.*1261C= (n.*1261C=)
c.1814C= (n.1814C=)
c.1434C= (p.Ile478=)
c.1482C= (p.Ile494=)
c.1578C= (p.Ile526=)
c.1524C= (p.Ile508=)
c.1485C= (p.Ile495=)
18g.33739006C>GCA402175941ASXL3c.1605C>G (p.Ile535Met)
c.1602C>G (p.Ile534Met)
c.*726C>G (n.*726C>G)
c.*1261C>G (n.*1261C>G)
c.1814C>G (n.1814C>G)
c.1434C>G (p.Ile478Met)
c.1482C>G (p.Ile494Met)
c.1578C>G (p.Ile526Met)
c.1524C>G (p.Ile508Met)
c.1485C>G (p.Ile495Met)
dbSNP gnomAD v2 gnomAD v4
18g.33739006C>TCA8933777ASXL3c.1605C>T (p.Ile535=)
c.1602C>T (p.Ile534=)
c.*726C>T (n.*726C>T)
c.*1261C>T (n.*1261C>T)
c.1814C>T (n.1814C>T)
c.1434C>T (p.Ile478=)
c.1482C>T (p.Ile494=)
c.1578C>T (p.Ile526=)
c.1524C>T (p.Ile508=)
c.1485C>T (p.Ile495=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739007G>ACA8933779ASXL3c.1606G>A (p.Asp536Asn)
c.1603G>A (p.Asp535Asn)
c.*727G>A (n.*727G>A)
c.*1262G>A (n.*1262G>A)
c.1815G>A (n.1815G>A)
c.1435G>A (p.Asp479Asn)
c.1483G>A (p.Asp495Asn)
c.1579G>A (p.Asp527Asn)
c.1525G>A (p.Asp509Asn)
c.1486G>A (p.Asp496Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.33739007G>CCA402175942ASXL3c.1606G>C (p.Asp536His)
c.1603G>C (p.Asp535His)
c.*727G>C (n.*727G>C)
c.*1262G>C (n.*1262G>C)
c.1815G>C (n.1815G>C)
c.1435G>C (p.Asp479His)
c.1483G>C (p.Asp495His)
c.1579G>C (p.Asp527His)
c.1525G>C (p.Asp509His)
c.1486G>C (p.Asp496His)
dbSNP gnomAD v2
18g.33739007G=CA2294855781ASXL3c.1606G= (p.Asp536=)
c.1603G= (p.Asp535=)
c.*727G= (n.*727G=)
c.*1262G= (n.*1262G=)
c.1815G= (n.1815G=)
c.1435G= (p.Asp479=)
c.1483G= (p.Asp495=)
c.1579G= (p.Asp527=)
c.1525G= (p.Asp509=)
c.1486G= (p.Asp496=)
18g.33739007G>TCA8933778ASXL3c.1606G>T (p.Asp536Tyr)
c.1603G>T (p.Asp535Tyr)
c.*727G>T (n.*727G>T)
c.*1262G>T (n.*1262G>T)
c.1815G>T (n.1815G>T)
c.1435G>T (p.Asp479Tyr)
c.1483G>T (p.Asp495Tyr)
c.1579G>T (p.Asp527Tyr)
c.1525G>T (p.Asp509Tyr)
c.1486G>T (p.Asp496Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739008A>CCA402175943ASXL3c.1607A>C (p.Asp536Ala)
c.1604A>C (p.Asp535Ala)
c.*728A>C (n.*728A>C)
c.*1263A>C (n.*1263A>C)
c.1816A>C (n.1816A>C)
c.1436A>C (p.Asp479Ala)
c.1484A>C (p.Asp495Ala)
c.1580A>C (p.Asp527Ala)
c.1526A>C (p.Asp509Ala)
c.1487A>C (p.Asp496Ala)
18g.33739008A>GCA402175944ASXL3c.1607A>G (p.Asp536Gly)
c.1604A>G (p.Asp535Gly)
c.*728A>G (n.*728A>G)
c.*1263A>G (n.*1263A>G)
c.1816A>G (n.1816A>G)
c.1436A>G (p.Asp479Gly)
c.1484A>G (p.Asp495Gly)
c.1580A>G (p.Asp527Gly)
c.1526A>G (p.Asp509Gly)
c.1487A>G (p.Asp496Gly)
18g.33739008A>TCA402175945ASXL3c.1607A>T (p.Asp536Val)
c.1604A>T (p.Asp535Val)
c.*728A>T (n.*728A>T)
c.*1263A>T (n.*1263A>T)
c.1816A>T (n.1816A>T)
c.1436A>T (p.Asp479Val)
c.1484A>T (p.Asp495Val)
c.1580A>T (p.Asp527Val)
c.1526A>T (p.Asp509Val)
c.1487A>T (p.Asp496Val)
18g.33739009T>ACA402175946ASXL3c.1608T>A (p.Asp536Glu)
c.1605T>A (p.Asp535Glu)
c.*729T>A (n.*729T>A)
c.*1264T>A (n.*1264T>A)
c.1817T>A (n.1817T>A)
c.1437T>A (p.Asp479Glu)
c.1485T>A (p.Asp495Glu)
c.1581T>A (p.Asp527Glu)
c.1527T>A (p.Asp509Glu)
c.1488T>A (p.Asp496Glu)
18g.33739009T>CCA503768713ASXL3c.1608T>C (p.Asp536=)
c.1605T>C (p.Asp535=)
c.*729T>C (n.*729T>C)
c.*1264T>C (n.*1264T>C)
c.1817T>C (n.1817T>C)
c.1437T>C (p.Asp479=)
c.1485T>C (p.Asp495=)
c.1581T>C (p.Asp527=)
c.1527T>C (p.Asp509=)
c.1488T>C (p.Asp496=)
18g.33739009T>GCA402175947ASXL3c.1608T>G (p.Asp536Glu)
c.1605T>G (p.Asp535Glu)
c.*729T>G (n.*729T>G)
c.*1264T>G (n.*1264T>G)
c.1817T>G (n.1817T>G)
c.1437T>G (p.Asp479Glu)
c.1485T>G (p.Asp495Glu)
c.1581T>G (p.Asp527Glu)
c.1527T>G (p.Asp509Glu)
c.1488T>G (p.Asp496Glu)
18g.33739010C>ACA402175948ASXL3c.1609C>A (p.Gln537Lys)
c.1606C>A (p.Gln536Lys)
c.*730C>A (n.*730C>A)
c.*1265C>A (n.*1265C>A)
c.1818C>A (n.1818C>A)
c.1438C>A (p.Gln480Lys)
c.1486C>A (p.Gln496Lys)
c.1582C>A (p.Gln528Lys)
c.1528C>A (p.Gln510Lys)
c.1489C>A (p.Gln497Lys)
18g.33739010C>GCA402175949ASXL3c.1609C>G (p.Gln537Glu)
c.1606C>G (p.Gln536Glu)
c.*730C>G (n.*730C>G)
c.*1265C>G (n.*1265C>G)
c.1818C>G (n.1818C>G)
c.1438C>G (p.Gln480Glu)
c.1486C>G (p.Gln496Glu)
c.1582C>G (p.Gln528Glu)
c.1528C>G (p.Gln510Glu)
c.1489C>G (p.Gln497Glu)
18g.33739010C>TCA402175950ASXL3c.1609C>T (p.Gln537Ter)
c.1606C>T (p.Gln536Ter)
c.*730C>T (n.*730C>T)
c.*1265C>T (n.*1265C>T)
c.1818C>T (n.1818C>T)
c.1438C>T (p.Gln480Ter)
c.1486C>T (p.Gln496Ter)
c.1582C>T (p.Gln528Ter)
c.1528C>T (p.Gln510Ter)
c.1489C>T (p.Gln497Ter)
18g.33739010_33739011delCA2740097816ASXL3c.1609_1610del (p.Gln537ValfsTer5)
c.1606_1607del (p.Gln536ValfsTer5)
c.*730_*731del (n.*730_*731del)
c.*1265_*1266del (n.*1265_*1266del)
c.1818_1819del (n.1818_1819del)
c.1438_1439del (p.Gln480ValfsTer5)
c.1486_1487del (p.Gln496ValfsTer5)
c.1582_1583del (p.Gln528ValfsTer5)
c.1528_1529del (p.Gln510ValfsTer5)
c.1489_1490del (p.Gln497ValfsTer5)
ClinVar
18g.33739011A>CCA402175951ASXL3c.1610A>C (p.Gln537Pro)
c.1607A>C (p.Gln536Pro)
c.*731A>C (n.*731A>C)
c.*1266A>C (n.*1266A>C)
c.1819A>C (n.1819A>C)
c.1439A>C (p.Gln480Pro)
c.1487A>C (p.Gln496Pro)
c.1583A>C (p.Gln528Pro)
c.1529A>C (p.Gln510Pro)
c.1490A>C (p.Gln497Pro)
18g.33739011A>GCA402175952ASXL3c.1610A>G (p.Gln537Arg)
c.1607A>G (p.Gln536Arg)
c.*731A>G (n.*731A>G)
c.*1266A>G (n.*1266A>G)
c.1819A>G (n.1819A>G)
c.1439A>G (p.Gln480Arg)
c.1487A>G (p.Gln496Arg)
c.1583A>G (p.Gln528Arg)
c.1529A>G (p.Gln510Arg)
c.1490A>G (p.Gln497Arg)
18g.33739011A>TCA402175953ASXL3c.1610A>T (p.Gln537Leu)
c.1607A>T (p.Gln536Leu)
c.*731A>T (n.*731A>T)
c.*1266A>T (n.*1266A>T)
c.1819A>T (n.1819A>T)
c.1439A>T (p.Gln480Leu)
c.1487A>T (p.Gln496Leu)
c.1583A>T (p.Gln528Leu)
c.1529A>T (p.Gln510Leu)
c.1490A>T (p.Gln497Leu)
18g.33739013_33739016dupCA2740097817ASXL3c.1612_1615dup (p.Glu539ValfsTer5)
c.1609_1612dup (p.Glu538ValfsTer5)
c.*733_*736dup (n.*733_*736dup)
c.*1268_*1271dup (n.*1268_*1271dup)
c.1821_1824dup (n.1821_1824dup)
c.1441_1444dup (p.Glu482ValfsTer5)
c.1489_1492dup (p.Glu498ValfsTer5)
c.1585_1588dup (p.Glu530ValfsTer5)
c.1531_1534dup (p.Glu512ValfsTer5)
c.1492_1495dup (p.Glu499ValfsTer5)
ClinVar
18g.33739013_33739016delCA2697555379ASXL3c.1612_1615del (p.Leu538LysfsTer13)
c.1609_1612del (p.Leu537LysfsTer13)
c.*733_*736del (n.*733_*736del)
c.*1268_*1271del (n.*1268_*1271del)
c.1821_1824del (n.1821_1824del)
c.1441_1444del (p.Leu481LysfsTer13)
c.1489_1492del (p.Leu497LysfsTer13)
c.1585_1588del (p.Leu529LysfsTer13)
c.1531_1534del (p.Leu511LysfsTer13)
c.1492_1495del (p.Leu498LysfsTer13)
ClinVar
18g.33739012G>ACA8933780ASXL3c.1611G>A (p.Gln537=)
c.1608G>A (p.Gln536=)
c.*732G>A (n.*732G>A)
c.*1267G>A (n.*1267G>A)
c.1820G>A (n.1820G>A)
c.1440G>A (p.Gln480=)
c.1488G>A (p.Gln496=)
c.1584G>A (p.Gln528=)
c.1530G>A (p.Gln510=)
c.1491G>A (p.Gln497=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739012G>CCA402175954ASXL3c.1611G>C (p.Gln537His)
c.1608G>C (p.Gln536His)
c.*732G>C (n.*732G>C)
c.*1267G>C (n.*1267G>C)
c.1820G>C (n.1820G>C)
c.1440G>C (p.Gln480His)
c.1488G>C (p.Gln496His)
c.1584G>C (p.Gln528His)
c.1530G>C (p.Gln510His)
c.1491G>C (p.Gln497His)
18g.33739012G=CA2294855782ASXL3c.1611G= (p.Gln537=)
c.1608G= (p.Gln536=)
c.*732G= (n.*732G=)
c.*1267G= (n.*1267G=)
c.1820G= (n.1820G=)
c.1440G= (p.Gln480=)
c.1488G= (p.Gln496=)
c.1584G= (p.Gln528=)
c.1530G= (p.Gln510=)
c.1491G= (p.Gln497=)
18g.33739012G>TCA402175955ASXL3c.1611G>T (p.Gln537His)
c.1608G>T (p.Gln536His)
c.*732G>T (n.*732G>T)
c.*1267G>T (n.*1267G>T)
c.1820G>T (n.1820G>T)
c.1440G>T (p.Gln480His)
c.1488G>T (p.Gln496His)
c.1584G>T (p.Gln528His)
c.1530G>T (p.Gln510His)
c.1491G>T (p.Gln497His)
18g.33739013T>ACA402175956ASXL3c.1612T>A (p.Leu538Ile)
c.1609T>A (p.Leu537Ile)
c.*733T>A (n.*733T>A)
c.*1268T>A (n.*1268T>A)
c.1821T>A (n.1821T>A)
c.1441T>A (p.Leu481Ile)
c.1489T>A (p.Leu497Ile)
c.1585T>A (p.Leu529Ile)
c.1531T>A (p.Leu511Ile)
c.1492T>A (p.Leu498Ile)
18g.33739013T>CCA503768722ASXL3c.1612T>C (p.Leu538=)
c.1609T>C (p.Leu537=)
c.*733T>C (n.*733T>C)
c.*1268T>C (n.*1268T>C)
c.1821T>C (n.1821T>C)
c.1441T>C (p.Leu481=)
c.1489T>C (p.Leu497=)
c.1585T>C (p.Leu529=)
c.1531T>C (p.Leu511=)
c.1492T>C (p.Leu498=)
18g.33739013T>GCA402175957ASXL3c.1612T>G (p.Leu538Val)
c.1609T>G (p.Leu537Val)
c.*733T>G (n.*733T>G)
c.*1268T>G (n.*1268T>G)
c.1821T>G (n.1821T>G)
c.1441T>G (p.Leu481Val)
c.1489T>G (p.Leu497Val)
c.1585T>G (p.Leu529Val)
c.1531T>G (p.Leu511Val)
c.1492T>G (p.Leu498Val)
18g.33739013_33739014insACACA2812055521ASXL3c.1612_1613insACA (p.Leu538delinsTyrIle)
c.1609_1610insACA (p.Leu537delinsTyrIle)
c.*733_*734insACA (n.*733_*734insACA)
c.*1268_*1269insACA (n.*1268_*1269insACA)
c.1821_1822insACA (n.1821_1822insACA)
c.1441_1442insACA (p.Leu481delinsTyrIle)
c.1489_1490insACA (p.Leu497delinsTyrIle)
c.1585_1586insACA (p.Leu529delinsTyrIle)
c.1531_1532insACA (p.Leu511delinsTyrIle)
c.1492_1493insACA (p.Leu498delinsTyrIle)
18g.33739014T>ACA402175958ASXL3c.1613T>A (p.Leu538Ter)
c.1610T>A (p.Leu537Ter)
c.*734T>A (n.*734T>A)
c.*1269T>A (n.*1269T>A)
c.1822T>A (n.1822T>A)
c.1442T>A (p.Leu481Ter)
c.1490T>A (p.Leu497Ter)
c.1586T>A (p.Leu529Ter)
c.1532T>A (p.Leu511Ter)
c.1493T>A (p.Leu498Ter)
18g.33739014T>CCA402175959ASXL3c.1613T>C (p.Leu538Ser)
c.1610T>C (p.Leu537Ser)
c.*734T>C (n.*734T>C)
c.*1269T>C (n.*1269T>C)
c.1822T>C (n.1822T>C)
c.1442T>C (p.Leu481Ser)
c.1490T>C (p.Leu497Ser)
c.1586T>C (p.Leu529Ser)
c.1532T>C (p.Leu511Ser)
c.1493T>C (p.Leu498Ser)
18g.33739014T>GCA402175960ASXL3c.1613T>G (p.Leu538Ter)
c.1610T>G (p.Leu537Ter)
c.*734T>G (n.*734T>G)
c.*1269T>G (n.*1269T>G)
c.1822T>G (n.1822T>G)
c.1442T>G (p.Leu481Ter)
c.1490T>G (p.Leu497Ter)
c.1586T>G (p.Leu529Ter)
c.1532T>G (p.Leu511Ter)
c.1493T>G (p.Leu498Ter)
18g.33739015A>CCA402175961ASXL3c.1614A>C (p.Leu538Phe)
c.1611A>C (p.Leu537Phe)
c.*735A>C (n.*735A>C)
c.*1270A>C (n.*1270A>C)
c.1823A>C (n.1823A>C)
c.1443A>C (p.Leu481Phe)
c.1491A>C (p.Leu497Phe)
c.1587A>C (p.Leu529Phe)
c.1533A>C (p.Leu511Phe)
c.1494A>C (p.Leu498Phe)
gnomAD v4
18g.33739015A>GCA503768725ASXL3c.1614A>G (p.Leu538=)
c.1611A>G (p.Leu537=)
c.*735A>G (n.*735A>G)
c.*1270A>G (n.*1270A>G)
c.1823A>G (n.1823A>G)
c.1443A>G (p.Leu481=)
c.1491A>G (p.Leu497=)
c.1587A>G (p.Leu529=)
c.1533A>G (p.Leu511=)
c.1494A>G (p.Leu498=)
18g.33739015A>TCA402175962ASXL3c.1614A>T (p.Leu538Phe)
c.1611A>T (p.Leu537Phe)
c.*735A>T (n.*735A>T)
c.*1270A>T (n.*1270A>T)
c.1823A>T (n.1823A>T)
c.1443A>T (p.Leu481Phe)
c.1491A>T (p.Leu497Phe)
c.1587A>T (p.Leu529Phe)
c.1533A>T (p.Leu511Phe)
c.1494A>T (p.Leu498Phe)
18g.33739016G>ACA402175963ASXL3c.1615G>A (p.Glu539Lys)
c.1612G>A (p.Glu538Lys)
c.*736G>A (n.*736G>A)
c.*1271G>A (n.*1271G>A)
c.1824G>A (n.1824G>A)
c.1444G>A (p.Glu482Lys)
c.1492G>A (p.Glu498Lys)
c.1588G>A (p.Glu530Lys)
c.1534G>A (p.Glu512Lys)
c.1495G>A (p.Glu499Lys)
18g.33739016G>CCA402175964ASXL3c.1615G>C (p.Glu539Gln)
c.1612G>C (p.Glu538Gln)
c.*736G>C (n.*736G>C)
c.*1271G>C (n.*1271G>C)
c.1824G>C (n.1824G>C)
c.1444G>C (p.Glu482Gln)
c.1492G>C (p.Glu498Gln)
c.1588G>C (p.Glu530Gln)
c.1534G>C (p.Glu512Gln)
c.1495G>C (p.Glu499Gln)
18g.33739016G=CA2294855783ASXL3c.1615G= (p.Glu539=)
c.1612G= (p.Glu538=)
c.*736G= (n.*736G=)
c.*1271G= (n.*1271G=)
c.1824G= (n.1824G=)
c.1444G= (p.Glu482=)
c.1492G= (p.Glu498=)
c.1588G= (p.Glu530=)
c.1534G= (p.Glu512=)
c.1495G= (p.Glu499=)
18g.33739016G>TCA402175965ASXL3c.1615G>T (p.Glu539Ter)
c.1612G>T (p.Glu538Ter)
c.*736G>T (n.*736G>T)
c.*1271G>T (n.*1271G>T)
c.1824G>T (n.1824G>T)
c.1444G>T (p.Glu482Ter)
c.1492G>T (p.Glu498Ter)
c.1588G>T (p.Glu530Ter)
c.1534G>T (p.Glu512Ter)
c.1495G>T (p.Glu499Ter)
ClinVar dbSNP
18g.33739017A>CCA402175966ASXL3c.1616A>C (p.Glu539Ala)
c.1613A>C (p.Glu538Ala)
c.*737A>C (n.*737A>C)
c.*1272A>C (n.*1272A>C)
c.1825A>C (n.1825A>C)
c.1445A>C (p.Glu482Ala)
c.1493A>C (p.Glu498Ala)
c.1589A>C (p.Glu530Ala)
c.1535A>C (p.Glu512Ala)
c.1496A>C (p.Glu499Ala)
18g.33739017A>GCA402175967ASXL3c.1616A>G (p.Glu539Gly)
c.1613A>G (p.Glu538Gly)
c.*737A>G (n.*737A>G)
c.*1272A>G (n.*1272A>G)
c.1825A>G (n.1825A>G)
c.1445A>G (p.Glu482Gly)
c.1493A>G (p.Glu498Gly)
c.1589A>G (p.Glu530Gly)
c.1535A>G (p.Glu512Gly)
c.1496A>G (p.Glu499Gly)
18g.33739017A>TCA402175968ASXL3c.1616A>T (p.Glu539Val)
c.1613A>T (p.Glu538Val)
c.*737A>T (n.*737A>T)
c.*1272A>T (n.*1272A>T)
c.1825A>T (n.1825A>T)
c.1445A>T (p.Glu482Val)
c.1493A>T (p.Glu498Val)
c.1589A>T (p.Glu530Val)
c.1535A>T (p.Glu512Val)
c.1496A>T (p.Glu499Val)
18g.33739018A>CCA402175969ASXL3c.1617A>C (p.Glu539Asp)
c.1614A>C (p.Glu538Asp)
c.*738A>C (n.*738A>C)
c.*1273A>C (n.*1273A>C)
c.1826A>C (n.1826A>C)
c.1446A>C (p.Glu482Asp)
c.1494A>C (p.Glu498Asp)
c.1590A>C (p.Glu530Asp)
c.1536A>C (p.Glu512Asp)
c.1497A>C (p.Glu499Asp)
COSMIC COSMIC
18g.33739018A>GCA503768727ASXL3c.1617A>G (p.Glu539=)
c.1614A>G (p.Glu538=)
c.*738A>G (n.*738A>G)
c.*1273A>G (n.*1273A>G)
c.1826A>G (n.1826A>G)
c.1446A>G (p.Glu482=)
c.1494A>G (p.Glu498=)
c.1590A>G (p.Glu530=)
c.1536A>G (p.Glu512=)
c.1497A>G (p.Glu499=)
18g.33739018A>TCA402175970ASXL3c.1617A>T (p.Glu539Asp)
c.1614A>T (p.Glu538Asp)
c.*738A>T (n.*738A>T)
c.*1273A>T (n.*1273A>T)
c.1826A>T (n.1826A>T)
c.1446A>T (p.Glu482Asp)
c.1494A>T (p.Glu498Asp)
c.1590A>T (p.Glu530Asp)
c.1536A>T (p.Glu512Asp)
c.1497A>T (p.Glu499Asp)
18g.33739019G>ACA8933781ASXL3c.1618G>A (p.Val540Ile)
c.1615G>A (p.Val539Ile)
c.*739G>A (n.*739G>A)
c.*1274G>A (n.*1274G>A)
c.1827G>A (n.1827G>A)
c.1447G>A (p.Val483Ile)
c.1495G>A (p.Val499Ile)
c.1591G>A (p.Val531Ile)
c.1537G>A (p.Val513Ile)
c.1498G>A (p.Val500Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739019G>CCA402175972ASXL3c.1618G>C (p.Val540Leu)
c.1615G>C (p.Val539Leu)
c.*739G>C (n.*739G>C)
c.*1274G>C (n.*1274G>C)
c.1827G>C (n.1827G>C)
c.1447G>C (p.Val483Leu)
c.1495G>C (p.Val499Leu)
c.1591G>C (p.Val531Leu)
c.1537G>C (p.Val513Leu)
c.1498G>C (p.Val500Leu)
18g.33739019G=CA2294855784ASXL3c.1618G= (p.Val540=)
c.1615G= (p.Val539=)
c.*739G= (n.*739G=)
c.*1274G= (n.*1274G=)
c.1827G= (n.1827G=)
c.1447G= (p.Val483=)
c.1495G= (p.Val499=)
c.1591G= (p.Val531=)
c.1537G= (p.Val513=)
c.1498G= (p.Val500=)
18g.33739019G>TCA402175971ASXL3c.1618G>T (p.Val540Phe)
c.1615G>T (p.Val539Phe)
c.*739G>T (n.*739G>T)
c.*1274G>T (n.*1274G>T)
c.1827G>T (n.1827G>T)
c.1447G>T (p.Val483Phe)
c.1495G>T (p.Val499Phe)
c.1591G>T (p.Val531Phe)
c.1537G>T (p.Val513Phe)
c.1498G>T (p.Val500Phe)
18g.33739020T>ACA402175973ASXL3c.1619T>A (p.Val540Asp)
c.1616T>A (p.Val539Asp)
c.*740T>A (n.*740T>A)
c.*1275T>A (n.*1275T>A)
c.1828T>A (n.1828T>A)
c.1448T>A (p.Val483Asp)
c.1496T>A (p.Val499Asp)
c.1592T>A (p.Val531Asp)
c.1538T>A (p.Val513Asp)
c.1499T>A (p.Val500Asp)
18g.33739020T>CCA8933782ASXL3c.1619T>C (p.Val540Ala)
c.1616T>C (p.Val539Ala)
c.*740T>C (n.*740T>C)
c.*1275T>C (n.*1275T>C)
c.1828T>C (n.1828T>C)
c.1448T>C (p.Val483Ala)
c.1496T>C (p.Val499Ala)
c.1592T>C (p.Val531Ala)
c.1538T>C (p.Val513Ala)
c.1499T>C (p.Val500Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739020T>GCA402175974ASXL3c.1619T>G (p.Val540Gly)
c.1616T>G (p.Val539Gly)
c.*740T>G (n.*740T>G)
c.*1275T>G (n.*1275T>G)
c.1828T>G (n.1828T>G)
c.1448T>G (p.Val483Gly)
c.1496T>G (p.Val499Gly)
c.1592T>G (p.Val531Gly)
c.1538T>G (p.Val513Gly)
c.1499T>G (p.Val500Gly)
gnomAD v4
18g.33739020T=CA2294855785ASXL3c.1619T= (p.Val540=)
c.1616T= (p.Val539=)
c.*740T= (n.*740T=)
c.*1275T= (n.*1275T=)
c.1828T= (n.1828T=)
c.1448T= (p.Val483=)
c.1496T= (p.Val499=)
c.1592T= (p.Val531=)
c.1538T= (p.Val513=)
c.1499T= (p.Val500=)
18g.33739021C>ACA503768731ASXL3c.1620C>A (p.Val540=)
c.1617C>A (p.Val539=)
c.*741C>A (n.*741C>A)
c.*1276C>A (n.*1276C>A)
c.1829C>A (n.1829C>A)
c.1449C>A (p.Val483=)
c.1497C>A (p.Val499=)
c.1593C>A (p.Val531=)
c.1539C>A (p.Val513=)
c.1500C>A (p.Val500=)
18g.33739021C>GCA503768732ASXL3c.1620C>G (p.Val540=)
c.1617C>G (p.Val539=)
c.*741C>G (n.*741C>G)
c.*1276C>G (n.*1276C>G)
c.1829C>G (n.1829C>G)
c.1449C>G (p.Val483=)
c.1497C>G (p.Val499=)
c.1593C>G (p.Val531=)
c.1539C>G (p.Val513=)
c.1500C>G (p.Val500=)
gnomAD v4
18g.33739021C>TCA503768733ASXL3c.1620C>T (p.Val540=)
c.1617C>T (p.Val539=)
c.*741C>T (n.*741C>T)
c.*1276C>T (n.*1276C>T)
c.1829C>T (n.1829C>T)
c.1449C>T (p.Val483=)
c.1497C>T (p.Val499=)
c.1593C>T (p.Val531=)
c.1539C>T (p.Val513=)
c.1500C>T (p.Val500=)
18g.33739022T>ACA402175975ASXL3c.1621T>A (p.Cys541Ser)
c.1618T>A (p.Cys540Ser)
c.*742T>A (n.*742T>A)
c.*1277T>A (n.*1277T>A)
c.1830T>A (n.1830T>A)
c.1450T>A (p.Cys484Ser)
c.1498T>A (p.Cys500Ser)
c.1594T>A (p.Cys532Ser)
c.1540T>A (p.Cys514Ser)
c.1501T>A (p.Cys501Ser)
18g.33739022T>CCA402175977ASXL3c.1621T>C (p.Cys541Arg)
c.1618T>C (p.Cys540Arg)
c.*742T>C (n.*742T>C)
c.*1277T>C (n.*1277T>C)
c.1830T>C (n.1830T>C)
c.1450T>C (p.Cys484Arg)
c.1498T>C (p.Cys500Arg)
c.1594T>C (p.Cys532Arg)
c.1540T>C (p.Cys514Arg)
c.1501T>C (p.Cys501Arg)
dbSNP gnomAD v2 gnomAD v4
18g.33739022T>GCA402175976ASXL3c.1621T>G (p.Cys541Gly)
c.1618T>G (p.Cys540Gly)
c.*742T>G (n.*742T>G)
c.*1277T>G (n.*1277T>G)
c.1830T>G (n.1830T>G)
c.1450T>G (p.Cys484Gly)
c.1498T>G (p.Cys500Gly)
c.1594T>G (p.Cys532Gly)
c.1540T>G (p.Cys514Gly)
c.1501T>G (p.Cys501Gly)
gnomAD v4
18g.33739022T=CA2294855786ASXL3c.1621T= (p.Cys541=)
c.1618T= (p.Cys540=)
c.*742T= (n.*742T=)
c.*1277T= (n.*1277T=)
c.1830T= (n.1830T=)
c.1450T= (p.Cys484=)
c.1498T= (p.Cys500=)
c.1594T= (p.Cys532=)
c.1540T= (p.Cys514=)
c.1501T= (p.Cys501=)
18g.33739023G>ACA402175978ASXL3c.1622G>A (p.Cys541Tyr)
c.1619G>A (p.Cys540Tyr)
c.*743G>A (n.*743G>A)
c.*1278G>A (n.*1278G>A)
c.1831G>A (n.1831G>A)
c.1451G>A (p.Cys484Tyr)
c.1499G>A (p.Cys500Tyr)
c.1595G>A (p.Cys532Tyr)
c.1541G>A (p.Cys514Tyr)
c.1502G>A (p.Cys501Tyr)
18g.33739023G>CCA402175980ASXL3c.1622G>C (p.Cys541Ser)
c.1619G>C (p.Cys540Ser)
c.*743G>C (n.*743G>C)
c.*1278G>C (n.*1278G>C)
c.1831G>C (n.1831G>C)
c.1451G>C (p.Cys484Ser)
c.1499G>C (p.Cys500Ser)
c.1595G>C (p.Cys532Ser)
c.1541G>C (p.Cys514Ser)
c.1502G>C (p.Cys501Ser)
18g.33739023G>TCA402175979ASXL3c.1622G>T (p.Cys541Phe)
c.1619G>T (p.Cys540Phe)
c.*743G>T (n.*743G>T)
c.*1278G>T (n.*1278G>T)
c.1831G>T (n.1831G>T)
c.1451G>T (p.Cys484Phe)
c.1499G>T (p.Cys500Phe)
c.1595G>T (p.Cys532Phe)
c.1541G>T (p.Cys514Phe)
c.1502G>T (p.Cys501Phe)
18g.33739024T>ACA402175981ASXL3c.1623T>A (p.Cys541Ter)
c.1620T>A (p.Cys540Ter)
c.*744T>A (n.*744T>A)
c.*1279T>A (n.*1279T>A)
c.1832T>A (n.1832T>A)
c.1452T>A (p.Cys484Ter)
c.1500T>A (p.Cys500Ter)
c.1596T>A (p.Cys532Ter)
c.1542T>A (p.Cys514Ter)
c.1503T>A (p.Cys501Ter)
18g.33739024T>CCA503768737ASXL3c.1623T>C (p.Cys541=)
c.1620T>C (p.Cys540=)
c.*744T>C (n.*744T>C)
c.*1279T>C (n.*1279T>C)
c.1832T>C (n.1832T>C)
c.1452T>C (p.Cys484=)
c.1500T>C (p.Cys500=)
c.1596T>C (p.Cys532=)
c.1542T>C (p.Cys514=)
c.1503T>C (p.Cys501=)
18g.33739024T>GCA402175982ASXL3c.1623T>G (p.Cys541Trp)
c.1620T>G (p.Cys540Trp)
c.*744T>G (n.*744T>G)
c.*1279T>G (n.*1279T>G)
c.1832T>G (n.1832T>G)
c.1452T>G (p.Cys484Trp)
c.1500T>G (p.Cys500Trp)
c.1596T>G (p.Cys532Trp)
c.1542T>G (p.Cys514Trp)
c.1503T>G (p.Cys501Trp)
18g.33739025G>ACA8933783ASXL3c.1624G>A (p.Asp542Asn)
c.1621G>A (p.Asp541Asn)
c.*745G>A (n.*745G>A)
c.*1280G>A (n.*1280G>A)
c.1833G>A (n.1833G>A)
c.1453G>A (p.Asp485Asn)
c.1501G>A (p.Asp501Asn)
c.1597G>A (p.Asp533Asn)
c.1543G>A (p.Asp515Asn)
c.1504G>A (p.Asp502Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739025G>CCA402175983ASXL3c.1624G>C (p.Asp542His)
c.1621G>C (p.Asp541His)
c.*745G>C (n.*745G>C)
c.*1280G>C (n.*1280G>C)
c.1833G>C (n.1833G>C)
c.1453G>C (p.Asp485His)
c.1501G>C (p.Asp501His)
c.1597G>C (p.Asp533His)
c.1543G>C (p.Asp515His)
c.1504G>C (p.Asp502His)
18g.33739025G=CA2294855787ASXL3c.1624G= (p.Asp542=)
c.1621G= (p.Asp541=)
c.*745G= (n.*745G=)
c.*1280G= (n.*1280G=)
c.1833G= (n.1833G=)
c.1453G= (p.Asp485=)
c.1501G= (p.Asp501=)
c.1597G= (p.Asp533=)
c.1543G= (p.Asp515=)
c.1504G= (p.Asp502=)
18g.33739025G>TCA402175984ASXL3c.1624G>T (p.Asp542Tyr)
c.1621G>T (p.Asp541Tyr)
c.*745G>T (n.*745G>T)
c.*1280G>T (n.*1280G>T)
c.1833G>T (n.1833G>T)
c.1453G>T (p.Asp485Tyr)
c.1501G>T (p.Asp501Tyr)
c.1597G>T (p.Asp533Tyr)
c.1543G>T (p.Asp515Tyr)
c.1504G>T (p.Asp502Tyr)
18g.33739026A>CCA402175985ASXL3c.1625A>C (p.Asp542Ala)
c.1622A>C (p.Asp541Ala)
c.*746A>C (n.*746A>C)
c.*1281A>C (n.*1281A>C)
c.1834A>C (n.1834A>C)
c.1454A>C (p.Asp485Ala)
c.1502A>C (p.Asp501Ala)
c.1598A>C (p.Asp533Ala)
c.1544A>C (p.Asp515Ala)
c.1505A>C (p.Asp502Ala)
gnomAD v4
18g.33739026A>GCA402175986ASXL3c.1625A>G (p.Asp542Gly)
c.1622A>G (p.Asp541Gly)
c.*746A>G (n.*746A>G)
c.*1281A>G (n.*1281A>G)
c.1834A>G (n.1834A>G)
c.1454A>G (p.Asp485Gly)
c.1502A>G (p.Asp501Gly)
c.1598A>G (p.Asp533Gly)
c.1544A>G (p.Asp515Gly)
c.1505A>G (p.Asp502Gly)
18g.33739026A>TCA402175987ASXL3c.1625A>T (p.Asp542Val)
c.1622A>T (p.Asp541Val)
c.*746A>T (n.*746A>T)
c.*1281A>T (n.*1281A>T)
c.1834A>T (n.1834A>T)
c.1454A>T (p.Asp485Val)
c.1502A>T (p.Asp501Val)
c.1598A>T (p.Asp533Val)
c.1544A>T (p.Asp515Val)
c.1505A>T (p.Asp502Val)
18g.33739026_33739028delinsACTCA2294855788ASXL3c.1625_1627delinsACT (p.Asp542=)
c.1622_1624delinsACT (p.Asp541=)
c.*746_*748delinsACT (n.*746_*748delinsACT)
c.*1281_*1283delinsACT (n.*1281_*1283delinsACT)
c.1834_1836delinsACT (n.1834_1836delinsACT)
c.1454_1456delinsACT (p.Asp485=)
c.1502_1504delinsACT (p.Asp501=)
c.1598_1600delinsACT (p.Asp533=)
c.1544_1546delinsACT (p.Asp515=)
c.1505_1507delinsACT (p.Asp502=)
18g.33739027C>ACA402175988ASXL3c.1626C>A (p.Asp542Glu)
c.1623C>A (p.Asp541Glu)
c.*747C>A (n.*747C>A)
c.*1282C>A (n.*1282C>A)
c.1835C>A (n.1835C>A)
c.1455C>A (p.Asp485Glu)
c.1503C>A (p.Asp501Glu)
c.1599C>A (p.Asp533Glu)
c.1545C>A (p.Asp515Glu)
c.1506C>A (p.Asp502Glu)
18g.33739027C=CA2294855789ASXL3c.1626C= (p.Asp542=)
c.1623C= (p.Asp541=)
c.*747C= (n.*747C=)
c.*1282C= (n.*1282C=)
c.1835C= (n.1835C=)
c.1455C= (p.Asp485=)
c.1503C= (p.Asp501=)
c.1599C= (p.Asp533=)
c.1545C= (p.Asp515=)
c.1506C= (p.Asp502=)
18g.33739027C>GCA402175989ASXL3c.1626C>G (p.Asp542Glu)
c.1623C>G (p.Asp541Glu)
c.*747C>G (n.*747C>G)
c.*1282C>G (n.*1282C>G)
c.1835C>G (n.1835C>G)
c.1455C>G (p.Asp485Glu)
c.1503C>G (p.Asp501Glu)
c.1599C>G (p.Asp533Glu)
c.1545C>G (p.Asp515Glu)
c.1506C>G (p.Asp502Glu)
18g.33739027C>TCA503768741ASXL3c.1626C>T (p.Asp542=)
c.1623C>T (p.Asp541=)
c.*747C>T (n.*747C>T)
c.*1282C>T (n.*1282C>T)
c.1835C>T (n.1835C>T)
c.1455C>T (p.Asp485=)
c.1503C>T (p.Asp501=)
c.1599C>T (p.Asp533=)
c.1545C>T (p.Asp515=)
c.1506C>T (p.Asp502=)
dbSNP
18g.33739031_33739032delCA645294121ASXL3c.1630_1631del (p.Leu544TyrfsTer12)
c.1627_1628del (p.Leu543TyrfsTer12)
c.*751_*752del (n.*751_*752del)
c.*1286_*1287del (n.*1286_*1287del)
c.1839_1840del (n.1839_1840del)
c.1459_1460del (p.Leu487TyrfsTer12)
c.1507_1508del (p.Leu503TyrfsTer12)
c.1603_1604del (p.Leu535TyrfsTer12)
c.1549_1550del (p.Leu517TyrfsTer12)
c.1510_1511del (p.Leu504TyrfsTer12)
ClinVar dbSNP
18g.33739028T>ACA402175990ASXL3c.1627T>A (p.Ser543Thr)
c.1624T>A (p.Ser542Thr)
c.*748T>A (n.*748T>A)
c.*1283T>A (n.*1283T>A)
c.1836T>A (n.1836T>A)
c.1456T>A (p.Ser486Thr)
c.1504T>A (p.Ser502Thr)
c.1600T>A (p.Ser534Thr)
c.1546T>A (p.Ser516Thr)
c.1507T>A (p.Ser503Thr)
18g.33739028T>CCA402175991ASXL3c.1627T>C (p.Ser543Pro)
c.1624T>C (p.Ser542Pro)
c.*748T>C (n.*748T>C)
c.*1283T>C (n.*1283T>C)
c.1836T>C (n.1836T>C)
c.1456T>C (p.Ser486Pro)
c.1504T>C (p.Ser502Pro)
c.1600T>C (p.Ser534Pro)
c.1546T>C (p.Ser516Pro)
c.1507T>C (p.Ser503Pro)
18g.33739028T>GCA402175992ASXL3c.1627T>G (p.Ser543Ala)
c.1624T>G (p.Ser542Ala)
c.*748T>G (n.*748T>G)
c.*1283T>G (n.*1283T>G)
c.1836T>G (n.1836T>G)
c.1456T>G (p.Ser486Ala)
c.1504T>G (p.Ser502Ala)
c.1600T>G (p.Ser534Ala)
c.1546T>G (p.Ser516Ala)
c.1507T>G (p.Ser503Ala)
dbSNP
18g.33739028T=CA2294855790ASXL3c.1627T= (p.Ser543=)
c.1624T= (p.Ser542=)
c.*748T= (n.*748T=)
c.*1283T= (n.*1283T=)
c.1836T= (n.1836T=)
c.1456T= (p.Ser486=)
c.1504T= (p.Ser502=)
c.1600T= (p.Ser534=)
c.1546T= (p.Ser516=)
c.1507T= (p.Ser503=)
18g.33739029C>ACA402175995ASXL3c.1628C>A (p.Ser543Tyr)
c.1625C>A (p.Ser542Tyr)
c.*749C>A (n.*749C>A)
c.*1284C>A (n.*1284C>A)
c.1837C>A (n.1837C>A)
c.1457C>A (p.Ser486Tyr)
c.1505C>A (p.Ser502Tyr)
c.1601C>A (p.Ser534Tyr)
c.1547C>A (p.Ser516Tyr)
c.1508C>A (p.Ser503Tyr)
18g.33739029C>GCA402175994ASXL3c.1628C>G (p.Ser543Cys)
c.1625C>G (p.Ser542Cys)
c.*749C>G (n.*749C>G)
c.*1284C>G (n.*1284C>G)
c.1837C>G (n.1837C>G)
c.1457C>G (p.Ser486Cys)
c.1505C>G (p.Ser502Cys)
c.1601C>G (p.Ser534Cys)
c.1547C>G (p.Ser516Cys)
c.1508C>G (p.Ser503Cys)
18g.33739029C>TCA402175993ASXL3c.1628C>T (p.Ser543Phe)
c.1625C>T (p.Ser542Phe)
c.*749C>T (n.*749C>T)
c.*1284C>T (n.*1284C>T)
c.1837C>T (n.1837C>T)
c.1457C>T (p.Ser486Phe)
c.1505C>T (p.Ser502Phe)
c.1601C>T (p.Ser534Phe)
c.1547C>T (p.Ser516Phe)
c.1508C>T (p.Ser503Phe)
18g.33739030T>ACA503768743ASXL3c.1629T>A (p.Ser543=)
c.1626T>A (p.Ser542=)
c.*750T>A (n.*750T>A)
c.*1285T>A (n.*1285T>A)
c.1838T>A (n.1838T>A)
c.1458T>A (p.Ser486=)
c.1506T>A (p.Ser502=)
c.1602T>A (p.Ser534=)
c.1548T>A (p.Ser516=)
c.1509T>A (p.Ser503=)
18g.33739030T>CCA503768745ASXL3c.1629T>C (p.Ser543=)
c.1626T>C (p.Ser542=)
c.*750T>C (n.*750T>C)
c.*1285T>C (n.*1285T>C)
c.1838T>C (n.1838T>C)
c.1458T>C (p.Ser486=)
c.1506T>C (p.Ser502=)
c.1602T>C (p.Ser534=)
c.1548T>C (p.Ser516=)
c.1509T>C (p.Ser503=)
18g.33739030T>GCA503768746ASXL3c.1629T>G (p.Ser543=)
c.1626T>G (p.Ser542=)
c.*750T>G (n.*750T>G)
c.*1285T>G (n.*1285T>G)
c.1838T>G (n.1838T>G)
c.1458T>G (p.Ser486=)
c.1506T>G (p.Ser502=)
c.1602T>G (p.Ser534=)
c.1548T>G (p.Ser516=)
c.1509T>G (p.Ser503=)
18g.33739031C>ACA402175996ASXL3c.1630C>A (p.Leu544Ile)
c.1627C>A (p.Leu543Ile)
c.*751C>A (n.*751C>A)
c.*1286C>A (n.*1286C>A)
c.1839C>A (n.1839C>A)
c.1459C>A (p.Leu487Ile)
c.1507C>A (p.Leu503Ile)
c.1603C>A (p.Leu535Ile)
c.1549C>A (p.Leu517Ile)
c.1510C>A (p.Leu504Ile)
18g.33739031C>GCA402175997ASXL3c.1630C>G (p.Leu544Val)
c.1627C>G (p.Leu543Val)
c.*751C>G (n.*751C>G)
c.*1286C>G (n.*1286C>G)
c.1839C>G (n.1839C>G)
c.1459C>G (p.Leu487Val)
c.1507C>G (p.Leu503Val)
c.1603C>G (p.Leu535Val)
c.1549C>G (p.Leu517Val)
c.1510C>G (p.Leu504Val)
18g.33739031C>TCA402175998ASXL3c.1630C>T (p.Leu544Phe)
c.1627C>T (p.Leu543Phe)
c.*751C>T (n.*751C>T)
c.*1286C>T (n.*1286C>T)
c.1839C>T (n.1839C>T)
c.1459C>T (p.Leu487Phe)
c.1507C>T (p.Leu503Phe)
c.1603C>T (p.Leu535Phe)
c.1549C>T (p.Leu517Phe)
c.1510C>T (p.Leu504Phe)
18g.33739032T>ACA402175999ASXL3c.1631T>A (p.Leu544His)
c.1628T>A (p.Leu543His)
c.*752T>A (n.*752T>A)
c.*1287T>A (n.*1287T>A)
c.1840T>A (n.1840T>A)
c.1460T>A (p.Leu487His)
c.1508T>A (p.Leu503His)
c.1604T>A (p.Leu535His)
c.1550T>A (p.Leu517His)
c.1511T>A (p.Leu504His)
18g.33739032T>CCA402176000ASXL3c.1631T>C (p.Leu544Pro)
c.1628T>C (p.Leu543Pro)
c.*752T>C (n.*752T>C)
c.*1287T>C (n.*1287T>C)
c.1840T>C (n.1840T>C)
c.1460T>C (p.Leu487Pro)
c.1508T>C (p.Leu503Pro)
c.1604T>C (p.Leu535Pro)
c.1550T>C (p.Leu517Pro)
c.1511T>C (p.Leu504Pro)
18g.33739032T>GCA402176001ASXL3c.1631T>G (p.Leu544Arg)
c.1628T>G (p.Leu543Arg)
c.*752T>G (n.*752T>G)
c.*1287T>G (n.*1287T>G)
c.1840T>G (n.1840T>G)
c.1460T>G (p.Leu487Arg)
c.1508T>G (p.Leu503Arg)
c.1604T>G (p.Leu535Arg)
c.1550T>G (p.Leu517Arg)
c.1511T>G (p.Leu504Arg)
18g.33739032_33739033delCA2580095657ASXL3c.1631_1632del (p.Leu544HisfsTer12)
c.1628_1629del (p.Leu543HisfsTer12)
c.*752_*753del (n.*752_*753del)
c.*1287_*1288del (n.*1287_*1288del)
c.1840_1841del (n.1840_1841del)
c.1460_1461del (p.Leu487HisfsTer12)
c.1508_1509del (p.Leu503HisfsTer12)
c.1604_1605del (p.Leu535HisfsTer12)
c.1550_1551del (p.Leu517HisfsTer12)
c.1511_1512del (p.Leu504HisfsTer12)
ClinVar
18g.33739033T>ACA503768751ASXL3c.1632T>A (p.Leu544=)
c.1629T>A (p.Leu543=)
c.*753T>A (n.*753T>A)
c.*1288T>A (n.*1288T>A)
c.1841T>A (n.1841T>A)
c.1461T>A (p.Leu487=)
c.1509T>A (p.Leu503=)
c.1605T>A (p.Leu535=)
c.1551T>A (p.Leu517=)
c.1512T>A (p.Leu504=)
18g.33739033T>CCA503768752ASXL3c.1632T>C (p.Leu544=)
c.1629T>C (p.Leu543=)
c.*753T>C (n.*753T>C)
c.*1288T>C (n.*1288T>C)
c.1841T>C (n.1841T>C)
c.1461T>C (p.Leu487=)
c.1509T>C (p.Leu503=)
c.1605T>C (p.Leu535=)
c.1551T>C (p.Leu517=)
c.1512T>C (p.Leu504=)
18g.33739033T>GCA503768753ASXL3c.1632T>G (p.Leu544=)
c.1629T>G (p.Leu543=)
c.*753T>G (n.*753T>G)
c.*1288T>G (n.*1288T>G)
c.1841T>G (n.1841T>G)
c.1461T>G (p.Leu487=)
c.1509T>G (p.Leu503=)
c.1605T>G (p.Leu535=)
c.1551T>G (p.Leu517=)
c.1512T>G (p.Leu504=)
18g.33739034A>CCA402176002ASXL3c.1633A>C (p.Ile545Leu)
c.1630A>C (p.Ile544Leu)
c.*754A>C (n.*754A>C)
c.*1289A>C (n.*1289A>C)
c.1842A>C (n.1842A>C)
c.1462A>C (p.Ile488Leu)
c.1510A>C (p.Ile504Leu)
c.1606A>C (p.Ile536Leu)
c.1552A>C (p.Ile518Leu)
c.1513A>C (p.Ile505Leu)
18g.33739034A>GCA402176003ASXL3c.1633A>G (p.Ile545Val)
c.1630A>G (p.Ile544Val)
c.*754A>G (n.*754A>G)
c.*1289A>G (n.*1289A>G)
c.1842A>G (n.1842A>G)
c.1462A>G (p.Ile488Val)
c.1510A>G (p.Ile504Val)
c.1606A>G (p.Ile536Val)
c.1552A>G (p.Ile518Val)
c.1513A>G (p.Ile505Val)
gnomAD v4
18g.33739034A>TCA402176004ASXL3c.1633A>T (p.Ile545Phe)
c.1630A>T (p.Ile544Phe)
c.*754A>T (n.*754A>T)
c.*1289A>T (n.*1289A>T)
c.1842A>T (n.1842A>T)
c.1462A>T (p.Ile488Phe)
c.1510A>T (p.Ile504Phe)
c.1606A>T (p.Ile536Phe)
c.1552A>T (p.Ile518Phe)
c.1513A>T (p.Ile505Phe)
18g.33739035T>ACA402176005ASXL3c.1634T>A (p.Ile545Asn)
c.1631T>A (p.Ile544Asn)
c.*755T>A (n.*755T>A)
c.*1290T>A (n.*1290T>A)
c.1843T>A (n.1843T>A)
c.1463T>A (p.Ile488Asn)
c.1511T>A (p.Ile504Asn)
c.1607T>A (p.Ile536Asn)
c.1553T>A (p.Ile518Asn)
c.1514T>A (p.Ile505Asn)
18g.33739035T>CCA402176006ASXL3c.1634T>C (p.Ile545Thr)
c.1631T>C (p.Ile544Thr)
c.*755T>C (n.*755T>C)
c.*1290T>C (n.*1290T>C)
c.1843T>C (n.1843T>C)
c.1463T>C (p.Ile488Thr)
c.1511T>C (p.Ile504Thr)
c.1607T>C (p.Ile536Thr)
c.1553T>C (p.Ile518Thr)
c.1514T>C (p.Ile505Thr)
gnomAD v4
18g.33739035T>GCA402176007ASXL3c.1634T>G (p.Ile545Ser)
c.1631T>G (p.Ile544Ser)
c.*755T>G (n.*755T>G)
c.*1290T>G (n.*1290T>G)
c.1843T>G (n.1843T>G)
c.1463T>G (p.Ile488Ser)
c.1511T>G (p.Ile504Ser)
c.1607T>G (p.Ile536Ser)
c.1553T>G (p.Ile518Ser)
c.1514T>G (p.Ile505Ser)
18g.33739036delCA658791349ASXL3c.1635del (p.Pro546LeufsTer6)
c.1632del (p.Pro545LeufsTer6)
c.*756del (n.*756del)
c.*1291del (n.*1291del)
c.1844del (n.1844del)
c.1464del (p.Pro489LeufsTer6)
c.1512del (p.Pro505LeufsTer6)
c.1608del (p.Pro537LeufsTer6)
c.1554del (p.Pro519LeufsTer6)
c.1515del (p.Pro506LeufsTer6)
18g.33739036T>ACA503768760ASXL3c.1635T>A (p.Ile545=)
c.1632T>A (p.Ile544=)
c.*756T>A (n.*756T>A)
c.*1291T>A (n.*1291T>A)
c.1844T>A (n.1844T>A)
c.1464T>A (p.Ile488=)
c.1512T>A (p.Ile504=)
c.1608T>A (p.Ile536=)
c.1554T>A (p.Ile518=)
c.1515T>A (p.Ile505=)
18g.33739036T>CCA503768757ASXL3c.1635T>C (p.Ile545=)
c.1632T>C (p.Ile544=)
c.*756T>C (n.*756T>C)
c.*1291T>C (n.*1291T>C)
c.1844T>C (n.1844T>C)
c.1464T>C (p.Ile488=)
c.1512T>C (p.Ile504=)
c.1608T>C (p.Ile536=)
c.1554T>C (p.Ile518=)
c.1515T>C (p.Ile505=)
dbSNP gnomAD v2 gnomAD v4
18g.33739036T>GCA402176008ASXL3c.1635T>G (p.Ile545Met)
c.1632T>G (p.Ile544Met)
c.*756T>G (n.*756T>G)
c.*1291T>G (n.*1291T>G)
c.1844T>G (n.1844T>G)
c.1464T>G (p.Ile488Met)
c.1512T>G (p.Ile504Met)
c.1608T>G (p.Ile536Met)
c.1554T>G (p.Ile518Met)
c.1515T>G (p.Ile505Met)
18g.33739036T=CA2294855791ASXL3c.1635T= (p.Ile545=)
c.1632T= (p.Ile544=)
c.*756T= (n.*756T=)
c.*1291T= (n.*1291T=)
c.1844T= (n.1844T=)
c.1464T= (p.Ile488=)
c.1512T= (p.Ile504=)
c.1608T= (p.Ile536=)
c.1554T= (p.Ile518=)
c.1515T= (p.Ile505=)
18g.33739037C>ACA402176010ASXL3c.1636C>A (p.Pro546Thr)
c.1633C>A (p.Pro545Thr)
c.*757C>A (n.*757C>A)
c.*1292C>A (n.*1292C>A)
c.1845C>A (n.1845C>A)
c.1465C>A (p.Pro489Thr)
c.1513C>A (p.Pro505Thr)
c.1609C>A (p.Pro537Thr)
c.1555C>A (p.Pro519Thr)
c.1516C>A (p.Pro506Thr)
18g.33739037C=CA2294855792ASXL3c.1636C= (p.Pro546=)
c.1633C= (p.Pro545=)
c.*757C= (n.*757C=)
c.*1292C= (n.*1292C=)
c.1845C= (n.1845C=)
c.1465C= (p.Pro489=)
c.1513C= (p.Pro505=)
c.1609C= (p.Pro537=)
c.1555C= (p.Pro519=)
c.1516C= (p.Pro506=)
18g.33739037C>GCA402176009ASXL3c.1636C>G (p.Pro546Ala)
c.1633C>G (p.Pro545Ala)
c.*757C>G (n.*757C>G)
c.*1292C>G (n.*1292C>G)
c.1845C>G (n.1845C>G)
c.1465C>G (p.Pro489Ala)
c.1513C>G (p.Pro505Ala)
c.1609C>G (p.Pro537Ala)
c.1555C>G (p.Pro519Ala)
c.1516C>G (p.Pro506Ala)
18g.33739037C>TCA297786859ASXL3c.1636C>T (p.Pro546Ser)
c.1633C>T (p.Pro545Ser)
c.*757C>T (n.*757C>T)
c.*1292C>T (n.*1292C>T)
c.1845C>T (n.1845C>T)
c.1465C>T (p.Pro489Ser)
c.1513C>T (p.Pro505Ser)
c.1609C>T (p.Pro537Ser)
c.1555C>T (p.Pro519Ser)
c.1516C>T (p.Pro506Ser)
dbSNP
18g.33739038C>ACA402176011ASXL3c.1637C>A (p.Pro546His)
c.1634C>A (p.Pro545His)
c.*758C>A (n.*758C>A)
c.*1293C>A (n.*1293C>A)
c.1846C>A (n.1846C>A)
c.1466C>A (p.Pro489His)
c.1514C>A (p.Pro505His)
c.1610C>A (p.Pro537His)
c.1556C>A (p.Pro519His)
c.1517C>A (p.Pro506His)
18g.33739038C=CA2294855793ASXL3c.1637C= (p.Pro546=)
c.1634C= (p.Pro545=)
c.*758C= (n.*758C=)
c.*1293C= (n.*1293C=)
c.1846C= (n.1846C=)
c.1466C= (p.Pro489=)
c.1514C= (p.Pro505=)
c.1610C= (p.Pro537=)
c.1556C= (p.Pro519=)
c.1517C= (p.Pro506=)
18g.33739038C>GCA402176012ASXL3c.1637C>G (p.Pro546Arg)
c.1634C>G (p.Pro545Arg)
c.*758C>G (n.*758C>G)
c.*1293C>G (n.*1293C>G)
c.1846C>G (n.1846C>G)
c.1466C>G (p.Pro489Arg)
c.1514C>G (p.Pro505Arg)
c.1610C>G (p.Pro537Arg)
c.1556C>G (p.Pro519Arg)
c.1517C>G (p.Pro506Arg)
18g.33739038C>TCA402176013ASXL3c.1637C>T (p.Pro546Leu)
c.1634C>T (p.Pro545Leu)
c.*758C>T (n.*758C>T)
c.*1293C>T (n.*1293C>T)
c.1846C>T (n.1846C>T)
c.1466C>T (p.Pro489Leu)
c.1514C>T (p.Pro505Leu)
c.1610C>T (p.Pro537Leu)
c.1556C>T (p.Pro519Leu)
c.1517C>T (p.Pro506Leu)
dbSNP gnomAD v4
18g.33739042_33739047delCA2576484112ASXL3c.1641_1646del (p.Thr548_Ser549del)
c.1638_1643del (p.Thr547_Ser548del)
c.*762_*767del (n.*762_*767del)
c.*1297_*1302del (n.*1297_*1302del)
c.1850_1855del (n.1850_1855del)
c.1470_1475del (p.Thr491_Ser492del)
c.1518_1523del (p.Thr507_Ser508del)
c.1614_1619del (p.Thr539_Ser540del)
c.1560_1565del (p.Thr521_Ser522del)
c.1521_1526del (p.Thr508_Ser509del)
gnomAD v4
18g.33739039T>ACA503768762ASXL3c.1638T>A (p.Pro546=)
c.1635T>A (p.Pro545=)
c.*759T>A (n.*759T>A)
c.*1294T>A (n.*1294T>A)
c.1847T>A (n.1847T>A)
c.1467T>A (p.Pro489=)
c.1515T>A (p.Pro505=)
c.1611T>A (p.Pro537=)
c.1557T>A (p.Pro519=)
c.1518T>A (p.Pro506=)
18g.33739039T>CCA503768764ASXL3c.1638T>C (p.Pro546=)
c.1635T>C (p.Pro545=)
c.*759T>C (n.*759T>C)
c.*1294T>C (n.*1294T>C)
c.1847T>C (n.1847T>C)
c.1467T>C (p.Pro489=)
c.1515T>C (p.Pro505=)
c.1611T>C (p.Pro537=)
c.1557T>C (p.Pro519=)
c.1518T>C (p.Pro506=)
gnomAD v4
18g.33739039T>GCA503768767ASXL3c.1638T>G (p.Pro546=)
c.1635T>G (p.Pro545=)
c.*759T>G (n.*759T>G)
c.*1294T>G (n.*1294T>G)
c.1847T>G (n.1847T>G)
c.1467T>G (p.Pro489=)
c.1515T>G (p.Pro505=)
c.1611T>G (p.Pro537=)
c.1557T>G (p.Pro519=)
c.1518T>G (p.Pro506=)
18g.33739040T>ACA402176014ASXL3c.1639T>A (p.Ser547Thr)
c.1636T>A (p.Ser546Thr)
c.*760T>A (n.*760T>A)
c.*1295T>A (n.*1295T>A)
c.1848T>A (n.1848T>A)
c.1468T>A (p.Ser490Thr)
c.1516T>A (p.Ser506Thr)
c.1612T>A (p.Ser538Thr)
c.1558T>A (p.Ser520Thr)
c.1519T>A (p.Ser507Thr)
18g.33739040T>CCA402176015ASXL3c.1639T>C (p.Ser547Pro)
c.1636T>C (p.Ser546Pro)
c.*760T>C (n.*760T>C)
c.*1295T>C (n.*1295T>C)
c.1848T>C (n.1848T>C)
c.1468T>C (p.Ser490Pro)
c.1516T>C (p.Ser506Pro)
c.1612T>C (p.Ser538Pro)
c.1558T>C (p.Ser520Pro)
c.1519T>C (p.Ser507Pro)
18g.33739040T>GCA402176016ASXL3c.1639T>G (p.Ser547Ala)
c.1636T>G (p.Ser546Ala)
c.*760T>G (n.*760T>G)
c.*1295T>G (n.*1295T>G)
c.1848T>G (n.1848T>G)
c.1468T>G (p.Ser490Ala)
c.1516T>G (p.Ser506Ala)
c.1612T>G (p.Ser538Ala)
c.1558T>G (p.Ser520Ala)
c.1519T>G (p.Ser507Ala)
18g.33739041C>ACA402176017ASXL3c.1640C>A (p.Ser547Tyr)
c.1637C>A (p.Ser546Tyr)
c.*761C>A (n.*761C>A)
c.*1296C>A (n.*1296C>A)
c.1849C>A (n.1849C>A)
c.1469C>A (p.Ser490Tyr)
c.1517C>A (p.Ser506Tyr)
c.1613C>A (p.Ser538Tyr)
c.1559C>A (p.Ser520Tyr)
c.1520C>A (p.Ser507Tyr)
18g.33739041C>GCA402176018ASXL3c.1640C>G (p.Ser547Cys)
c.1637C>G (p.Ser546Cys)
c.*761C>G (n.*761C>G)
c.*1296C>G (n.*1296C>G)
c.1849C>G (n.1849C>G)
c.1469C>G (p.Ser490Cys)
c.1517C>G (p.Ser506Cys)
c.1613C>G (p.Ser538Cys)
c.1559C>G (p.Ser520Cys)
c.1520C>G (p.Ser507Cys)
gnomAD v4
18g.33739041C>TCA402176019ASXL3c.1640C>T (p.Ser547Phe)
c.1637C>T (p.Ser546Phe)
c.*761C>T (n.*761C>T)
c.*1296C>T (n.*1296C>T)
c.1849C>T (n.1849C>T)
c.1469C>T (p.Ser490Phe)
c.1517C>T (p.Ser506Phe)
c.1613C>T (p.Ser538Phe)
c.1559C>T (p.Ser520Phe)
c.1520C>T (p.Ser507Phe)
gnomAD v4
18g.33739042C>ACA503768768ASXL3c.1641C>A (p.Ser547=)
c.1638C>A (p.Ser546=)
c.*762C>A (n.*762C>A)
c.*1297C>A (n.*1297C>A)
c.1850C>A (n.1850C>A)
c.1470C>A (p.Ser490=)
c.1518C>A (p.Ser506=)
c.1614C>A (p.Ser538=)
c.1560C>A (p.Ser520=)
c.1521C>A (p.Ser507=)
18g.33739042C=CA2294855794ASXL3c.1641C= (p.Ser547=)
c.1638C= (p.Ser546=)
c.*762C= (n.*762C=)
c.*1297C= (n.*1297C=)
c.1850C= (n.1850C=)
c.1470C= (p.Ser490=)
c.1518C= (p.Ser506=)
c.1614C= (p.Ser538=)
c.1560C= (p.Ser520=)
c.1521C= (p.Ser507=)
18g.33739042C>GCA503768771ASXL3c.1641C>G (p.Ser547=)
c.1638C>G (p.Ser546=)
c.*762C>G (n.*762C>G)
c.*1297C>G (n.*1297C>G)
c.1850C>G (n.1850C>G)
c.1470C>G (p.Ser490=)
c.1518C>G (p.Ser506=)
c.1614C>G (p.Ser538=)
c.1560C>G (p.Ser520=)
c.1521C>G (p.Ser507=)
dbSNP
18g.33739042C>TCA8933784ASXL3c.1641C>T (p.Ser547=)
c.1638C>T (p.Ser546=)
c.*762C>T (n.*762C>T)
c.*1297C>T (n.*1297C>T)
c.1850C>T (n.1850C>T)
c.1470C>T (p.Ser490=)
c.1518C>T (p.Ser506=)
c.1614C>T (p.Ser538=)
c.1560C>T (p.Ser520=)
c.1521C>T (p.Ser507=)
dbSNP ExAC gnomAD v2
18g.33739043A>CCA402176022ASXL3c.1642A>C (p.Thr548Pro)
c.1639A>C (p.Thr547Pro)
c.*763A>C (n.*763A>C)
c.*1298A>C (n.*1298A>C)
c.1851A>C (n.1851A>C)
c.1471A>C (p.Thr491Pro)
c.1519A>C (p.Thr507Pro)
c.1615A>C (p.Thr539Pro)
c.1561A>C (p.Thr521Pro)
c.1522A>C (p.Thr508Pro)
18g.33739043A>GCA402176020ASXL3c.1642A>G (p.Thr548Ala)
c.1639A>G (p.Thr547Ala)
c.*763A>G (n.*763A>G)
c.*1298A>G (n.*1298A>G)
c.1851A>G (n.1851A>G)
c.1471A>G (p.Thr491Ala)
c.1519A>G (p.Thr507Ala)
c.1615A>G (p.Thr539Ala)
c.1561A>G (p.Thr521Ala)
c.1522A>G (p.Thr508Ala)
18g.33739043A>TCA402176021ASXL3c.1642A>T (p.Thr548Ser)
c.1639A>T (p.Thr547Ser)
c.*763A>T (n.*763A>T)
c.*1298A>T (n.*1298A>T)
c.1851A>T (n.1851A>T)
c.1471A>T (p.Thr491Ser)
c.1519A>T (p.Thr507Ser)
c.1615A>T (p.Thr539Ser)
c.1561A>T (p.Thr521Ser)
c.1522A>T (p.Thr508Ser)
gnomAD v4
18g.33739044C>ACA402176023ASXL3c.1643C>A (p.Thr548Asn)
c.1640C>A (p.Thr547Asn)
c.*764C>A (n.*764C>A)
c.*1299C>A (n.*1299C>A)
c.1852C>A (n.1852C>A)
c.1472C>A (p.Thr491Asn)
c.1520C>A (p.Thr507Asn)
c.1616C>A (p.Thr539Asn)
c.1562C>A (p.Thr521Asn)
c.1523C>A (p.Thr508Asn)
18g.33739044C=CA2294855795ASXL3c.1643C= (p.Thr548=)
c.1640C= (p.Thr547=)
c.*764C= (n.*764C=)
c.*1299C= (n.*1299C=)
c.1852C= (n.1852C=)
c.1472C= (p.Thr491=)
c.1520C= (p.Thr507=)
c.1616C= (p.Thr539=)
c.1562C= (p.Thr521=)
c.1523C= (p.Thr508=)
18g.33739044C>GCA402176024ASXL3c.1643C>G (p.Thr548Ser)
c.1640C>G (p.Thr547Ser)
c.*764C>G (n.*764C>G)
c.*1299C>G (n.*1299C>G)
c.1852C>G (n.1852C>G)
c.1472C>G (p.Thr491Ser)
c.1520C>G (p.Thr507Ser)
c.1616C>G (p.Thr539Ser)
c.1562C>G (p.Thr521Ser)
c.1523C>G (p.Thr508Ser)
18g.33739044C>TCA402176025ASXL3c.1643C>T (p.Thr548Ile)
c.1640C>T (p.Thr547Ile)
c.*764C>T (n.*764C>T)
c.*1299C>T (n.*1299C>T)
c.1852C>T (n.1852C>T)
c.1472C>T (p.Thr491Ile)
c.1520C>T (p.Thr507Ile)
c.1616C>T (p.Thr539Ile)
c.1562C>T (p.Thr521Ile)
c.1523C>T (p.Thr508Ile)
dbSNP gnomAD v2 gnomAD v4
18g.33739045T>ACA503768772ASXL3c.1644T>A (p.Thr548=)
c.1641T>A (p.Thr547=)
c.*765T>A (n.*765T>A)
c.*1300T>A (n.*1300T>A)
c.1853T>A (n.1853T>A)
c.1473T>A (p.Thr491=)
c.1521T>A (p.Thr507=)
c.1617T>A (p.Thr539=)
c.1563T>A (p.Thr521=)
c.1524T>A (p.Thr508=)
18g.33739045T>CCA503768773ASXL3c.1644T>C (p.Thr548=)
c.1641T>C (p.Thr547=)
c.*765T>C (n.*765T>C)
c.*1300T>C (n.*1300T>C)
c.1853T>C (n.1853T>C)
c.1473T>C (p.Thr491=)
c.1521T>C (p.Thr507=)
c.1617T>C (p.Thr539=)
c.1563T>C (p.Thr521=)
c.1524T>C (p.Thr508=)
18g.33739045T>GCA297786867ASXL3c.1644T>G (p.Thr548=)
c.1641T>G (p.Thr547=)
c.*765T>G (n.*765T>G)
c.*1300T>G (n.*1300T>G)
c.1853T>G (n.1853T>G)
c.1473T>G (p.Thr491=)
c.1521T>G (p.Thr507=)
c.1617T>G (p.Thr539=)
c.1563T>G (p.Thr521=)
c.1524T>G (p.Thr508=)
dbSNP gnomAD v4
18g.33739045T=CA2294855796ASXL3c.1644T= (p.Thr548=)
c.1641T= (p.Thr547=)
c.*765T= (n.*765T=)
c.*1300T= (n.*1300T=)
c.1853T= (n.1853T=)
c.1473T= (p.Thr491=)
c.1521T= (p.Thr507=)
c.1617T= (p.Thr539=)
c.1563T= (p.Thr521=)
c.1524T= (p.Thr508=)
18g.33739046T>ACA402176026ASXL3c.1645T>A (p.Ser549Thr)
c.1642T>A (p.Ser548Thr)
c.*766T>A (n.*766T>A)
c.*1301T>A (n.*1301T>A)
c.1854T>A (n.1854T>A)
c.1474T>A (p.Ser492Thr)
c.1522T>A (p.Ser508Thr)
c.1618T>A (p.Ser540Thr)
c.1564T>A (p.Ser522Thr)
c.1525T>A (p.Ser509Thr)
18g.33739046T>CCA402176027ASXL3c.1645T>C (p.Ser549Pro)
c.1642T>C (p.Ser548Pro)
c.*766T>C (n.*766T>C)
c.*1301T>C (n.*1301T>C)
c.1854T>C (n.1854T>C)
c.1474T>C (p.Ser492Pro)
c.1522T>C (p.Ser508Pro)
c.1618T>C (p.Ser540Pro)
c.1564T>C (p.Ser522Pro)
c.1525T>C (p.Ser509Pro)
18g.33739046T>GCA402176028ASXL3c.1645T>G (p.Ser549Ala)
c.1642T>G (p.Ser548Ala)
c.*766T>G (n.*766T>G)
c.*1301T>G (n.*1301T>G)
c.1854T>G (n.1854T>G)
c.1474T>G (p.Ser492Ala)
c.1522T>G (p.Ser508Ala)
c.1618T>G (p.Ser540Ala)
c.1564T>G (p.Ser522Ala)
c.1525T>G (p.Ser509Ala)
18g.33739048_33739050dupCA8933785ASXL3c.1647_1649dup (p.Ser550_Met551insSer)
c.1644_1646dup (p.Ser549_Met550insSer)
c.*768_*770dup (n.*768_*770dup)
c.*1303_*1305dup (n.*1303_*1305dup)
c.1856_1858dup (n.1856_1858dup)
c.1476_1478dup (p.Ser493_Met494insSer)
c.1524_1526dup (p.Ser509_Met510insSer)
c.1620_1622dup (p.Ser541_Met542insSer)
c.1566_1568dup (p.Ser523_Met524insSer)
c.1527_1529dup (p.Ser510_Met511insSer)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739047C>ACA402176029ASXL3c.1646C>A (p.Ser549Ter)
c.1643C>A (p.Ser548Ter)
c.*767C>A (n.*767C>A)
c.*1302C>A (n.*1302C>A)
c.1855C>A (n.1855C>A)
c.1475C>A (p.Ser492Ter)
c.1523C>A (p.Ser508Ter)
c.1619C>A (p.Ser540Ter)
c.1565C>A (p.Ser522Ter)
c.1526C>A (p.Ser509Ter)
18g.33739047C=CA2294855797ASXL3c.1646C= (p.Ser549=)
c.1643C= (p.Ser548=)
c.*767C= (n.*767C=)
c.*1302C= (n.*1302C=)
c.1855C= (n.1855C=)
c.1475C= (p.Ser492=)
c.1523C= (p.Ser508=)
c.1619C= (p.Ser540=)
c.1565C= (p.Ser522=)
c.1526C= (p.Ser509=)
18g.33739047C>GCA402176030ASXL3c.1646C>G (p.Ser549Ter)
c.1643C>G (p.Ser548Ter)
c.*767C>G (n.*767C>G)
c.*1302C>G (n.*1302C>G)
c.1855C>G (n.1855C>G)
c.1475C>G (p.Ser492Ter)
c.1523C>G (p.Ser508Ter)
c.1619C>G (p.Ser540Ter)
c.1565C>G (p.Ser522Ter)
c.1526C>G (p.Ser509Ter)
18g.33739047C>TCA8933786ASXL3c.1646C>T (p.Ser549Leu)
c.1643C>T (p.Ser548Leu)
c.*767C>T (n.*767C>T)
c.*1302C>T (n.*1302C>T)
c.1855C>T (n.1855C>T)
c.1475C>T (p.Ser492Leu)
c.1523C>T (p.Ser508Leu)
c.1619C>T (p.Ser540Leu)
c.1565C>T (p.Ser522Leu)
c.1526C>T (p.Ser509Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739048A>CCA503768778ASXL3c.1647A>C (p.Ser549=)
c.1644A>C (p.Ser548=)
c.*768A>C (n.*768A>C)
c.*1303A>C (n.*1303A>C)
c.1856A>C (n.1856A>C)
c.1476A>C (p.Ser492=)
c.1524A>C (p.Ser508=)
c.1620A>C (p.Ser540=)
c.1566A>C (p.Ser522=)
c.1527A>C (p.Ser509=)
18g.33739048A>GCA503768780ASXL3c.1647A>G (p.Ser549=)
c.1644A>G (p.Ser548=)
c.*768A>G (n.*768A>G)
c.*1303A>G (n.*1303A>G)
c.1856A>G (n.1856A>G)
c.1476A>G (p.Ser492=)
c.1524A>G (p.Ser508=)
c.1620A>G (p.Ser540=)
c.1566A>G (p.Ser522=)
c.1527A>G (p.Ser509=)
18g.33739048A>TCA503768782ASXL3c.1647A>T (p.Ser549=)
c.1644A>T (p.Ser548=)
c.*768A>T (n.*768A>T)
c.*1303A>T (n.*1303A>T)
c.1856A>T (n.1856A>T)
c.1476A>T (p.Ser492=)
c.1524A>T (p.Ser508=)
c.1620A>T (p.Ser540=)
c.1566A>T (p.Ser522=)
c.1527A>T (p.Ser509=)
18g.33739049T>ACA402176033ASXL3c.1648T>A (p.Ser550Thr)
c.1645T>A (p.Ser549Thr)
c.*769T>A (n.*769T>A)
c.*1304T>A (n.*1304T>A)
c.1857T>A (n.1857T>A)
c.1477T>A (p.Ser493Thr)
c.1525T>A (p.Ser509Thr)
c.1621T>A (p.Ser541Thr)
c.1567T>A (p.Ser523Thr)
c.1528T>A (p.Ser510Thr)
18g.33739049T>CCA402176032ASXL3c.1648T>C (p.Ser550Pro)
c.1645T>C (p.Ser549Pro)
c.*769T>C (n.*769T>C)
c.*1304T>C (n.*1304T>C)
c.1857T>C (n.1857T>C)
c.1477T>C (p.Ser493Pro)
c.1525T>C (p.Ser509Pro)
c.1621T>C (p.Ser541Pro)
c.1567T>C (p.Ser523Pro)
c.1528T>C (p.Ser510Pro)
18g.33739049T>GCA402176031ASXL3c.1648T>G (p.Ser550Ala)
c.1645T>G (p.Ser549Ala)
c.*769T>G (n.*769T>G)
c.*1304T>G (n.*1304T>G)
c.1857T>G (n.1857T>G)
c.1477T>G (p.Ser493Ala)
c.1525T>G (p.Ser509Ala)
c.1621T>G (p.Ser541Ala)
c.1567T>G (p.Ser523Ala)
c.1528T>G (p.Ser510Ala)
18g.33739050C>ACA402176034ASXL3c.1649C>A (p.Ser550Tyr)
c.1646C>A (p.Ser549Tyr)
c.*770C>A (n.*770C>A)
c.*1305C>A (n.*1305C>A)
c.1858C>A (n.1858C>A)
c.1478C>A (p.Ser493Tyr)
c.1526C>A (p.Ser509Tyr)
c.1622C>A (p.Ser541Tyr)
c.1568C>A (p.Ser523Tyr)
c.1529C>A (p.Ser510Tyr)
COSMIC COSMIC
18g.33739050C=CA2294855798ASXL3c.1649C= (p.Ser550=)
c.1646C= (p.Ser549=)
c.*770C= (n.*770C=)
c.*1305C= (n.*1305C=)
c.1858C= (n.1858C=)
c.1478C= (p.Ser493=)
c.1526C= (p.Ser509=)
c.1622C= (p.Ser541=)
c.1568C= (p.Ser523=)
c.1529C= (p.Ser510=)
18g.33739050C>GCA402176035ASXL3c.1649C>G (p.Ser550Cys)
c.1646C>G (p.Ser549Cys)
c.*770C>G (n.*770C>G)
c.*1305C>G (n.*1305C>G)
c.1858C>G (n.1858C>G)
c.1478C>G (p.Ser493Cys)
c.1526C>G (p.Ser509Cys)
c.1622C>G (p.Ser541Cys)
c.1568C>G (p.Ser523Cys)
c.1529C>G (p.Ser510Cys)
18g.33739050C>TCA8933787ASXL3c.1649C>T (p.Ser550Phe)
c.1646C>T (p.Ser549Phe)
c.*770C>T (n.*770C>T)
c.*1305C>T (n.*1305C>T)
c.1858C>T (n.1858C>T)
c.1478C>T (p.Ser493Phe)
c.1526C>T (p.Ser509Phe)
c.1622C>T (p.Ser541Phe)
c.1568C>T (p.Ser523Phe)
c.1529C>T (p.Ser510Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739051T>ACA503768783ASXL3c.1650T>A (p.Ser550=)
c.1647T>A (p.Ser549=)
c.*771T>A (n.*771T>A)
c.*1306T>A (n.*1306T>A)
c.1859T>A (n.1859T>A)
c.1479T>A (p.Ser493=)
c.1527T>A (p.Ser509=)
c.1623T>A (p.Ser541=)
c.1569T>A (p.Ser523=)
c.1530T>A (p.Ser510=)
18g.33739051T>CCA503768785ASXL3c.1650T>C (p.Ser550=)
c.1647T>C (p.Ser549=)
c.*771T>C (n.*771T>C)
c.*1306T>C (n.*1306T>C)
c.1859T>C (n.1859T>C)
c.1479T>C (p.Ser493=)
c.1527T>C (p.Ser509=)
c.1623T>C (p.Ser541=)
c.1569T>C (p.Ser523=)
c.1530T>C (p.Ser510=)
18g.33739051T>GCA503768786ASXL3c.1650T>G (p.Ser550=)
c.1647T>G (p.Ser549=)
c.*771T>G (n.*771T>G)
c.*1306T>G (n.*1306T>G)
c.1859T>G (n.1859T>G)
c.1479T>G (p.Ser493=)
c.1527T>G (p.Ser509=)
c.1623T>G (p.Ser541=)
c.1569T>G (p.Ser523=)
c.1530T>G (p.Ser510=)
18g.33739052A=CA2294855799ASXL3c.1651A= (p.Met551=)
c.1648A= (p.Met550=)
c.*772A= (n.*772A=)
c.*1307A= (n.*1307A=)
c.1860A= (n.1860A=)
c.1480A= (p.Met494=)
c.1528A= (p.Met510=)
c.1624A= (p.Met542=)
c.1570A= (p.Met524=)
c.1531A= (p.Met511=)
18g.33739052A>CCA402176036ASXL3c.1651A>C (p.Met551Leu)
c.1648A>C (p.Met550Leu)
c.*772A>C (n.*772A>C)
c.*1307A>C (n.*1307A>C)
c.1860A>C (n.1860A>C)
c.1480A>C (p.Met494Leu)
c.1528A>C (p.Met510Leu)
c.1624A>C (p.Met542Leu)
c.1570A>C (p.Met524Leu)
c.1531A>C (p.Met511Leu)
18g.33739052A>GCA8933788ASXL3c.1651A>G (p.Met551Val)
c.1648A>G (p.Met550Val)
c.*772A>G (n.*772A>G)
c.*1307A>G (n.*1307A>G)
c.1860A>G (n.1860A>G)
c.1480A>G (p.Met494Val)
c.1528A>G (p.Met510Val)
c.1624A>G (p.Met542Val)
c.1570A>G (p.Met524Val)
c.1531A>G (p.Met511Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739052A>TCA402176037ASXL3c.1651A>T (p.Met551Leu)
c.1648A>T (p.Met550Leu)
c.*772A>T (n.*772A>T)
c.*1307A>T (n.*1307A>T)
c.1860A>T (n.1860A>T)
c.1480A>T (p.Met494Leu)
c.1528A>T (p.Met510Leu)
c.1624A>T (p.Met542Leu)
c.1570A>T (p.Met524Leu)
c.1531A>T (p.Met511Leu)
18g.33739053T>ACA402176039ASXL3c.1652T>A (p.Met551Lys)
c.1649T>A (p.Met550Lys)
c.*773T>A (n.*773T>A)
c.*1308T>A (n.*1308T>A)
c.1861T>A (n.1861T>A)
c.1481T>A (p.Met494Lys)
c.1529T>A (p.Met510Lys)
c.1625T>A (p.Met542Lys)
c.1571T>A (p.Met524Lys)
c.1532T>A (p.Met511Lys)
18g.33739053T>CCA8933789ASXL3c.1652T>C (p.Met551Thr)
c.1649T>C (p.Met550Thr)
c.*773T>C (n.*773T>C)
c.*1308T>C (n.*1308T>C)
c.1861T>C (n.1861T>C)
c.1481T>C (p.Met494Thr)
c.1529T>C (p.Met510Thr)
c.1625T>C (p.Met542Thr)
c.1571T>C (p.Met524Thr)
c.1532T>C (p.Met511Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739053T>GCA402176038ASXL3c.1652T>G (p.Met551Arg)
c.1649T>G (p.Met550Arg)
c.*773T>G (n.*773T>G)
c.*1308T>G (n.*1308T>G)
c.1861T>G (n.1861T>G)
c.1481T>G (p.Met494Arg)
c.1529T>G (p.Met510Arg)
c.1625T>G (p.Met542Arg)
c.1571T>G (p.Met524Arg)
c.1532T>G (p.Met511Arg)
18g.33739053T=CA2294855800ASXL3c.1652T= (p.Met551=)
c.1649T= (p.Met550=)
c.*773T= (n.*773T=)
c.*1308T= (n.*1308T=)
c.1861T= (n.1861T=)
c.1481T= (p.Met494=)
c.1529T= (p.Met510=)
c.1625T= (p.Met542=)
c.1571T= (p.Met524=)
c.1532T= (p.Met511=)
18g.33739054G>ACA402176040ASXL3c.1653G>A (p.Met551Ile)
c.1650G>A (p.Met550Ile)
c.*774G>A (n.*774G>A)
c.*1309G>A (n.*1309G>A)
c.1862G>A (n.1862G>A)
c.1482G>A (p.Met494Ile)
c.1530G>A (p.Met510Ile)
c.1626G>A (p.Met542Ile)
c.1572G>A (p.Met524Ile)
c.1533G>A (p.Met511Ile)
18g.33739054G>CCA402176041ASXL3c.1653G>C (p.Met551Ile)
c.1650G>C (p.Met550Ile)
c.*774G>C (n.*774G>C)
c.*1309G>C (n.*1309G>C)
c.1862G>C (n.1862G>C)
c.1482G>C (p.Met494Ile)
c.1530G>C (p.Met510Ile)
c.1626G>C (p.Met542Ile)
c.1572G>C (p.Met524Ile)
c.1533G>C (p.Met511Ile)
18g.33739054G>TCA402176042ASXL3c.1653G>T (p.Met551Ile)
c.1650G>T (p.Met550Ile)
c.*774G>T (n.*774G>T)
c.*1309G>T (n.*1309G>T)
c.1862G>T (n.1862G>T)
c.1482G>T (p.Met494Ile)
c.1530G>T (p.Met510Ile)
c.1626G>T (p.Met542Ile)
c.1572G>T (p.Met524Ile)
c.1533G>T (p.Met511Ile)
gnomAD v4
18g.33739055A>CCA402176043ASXL3c.1654A>C (p.Thr552Pro)
c.1651A>C (p.Thr551Pro)
c.*775A>C (n.*775A>C)
c.*1310A>C (n.*1310A>C)
c.1863A>C (n.1863A>C)
c.1483A>C (p.Thr495Pro)
c.1531A>C (p.Thr511Pro)
c.1627A>C (p.Thr543Pro)
c.1573A>C (p.Thr525Pro)
c.1534A>C (p.Thr512Pro)
18g.33739055A>GCA402176044ASXL3c.1654A>G (p.Thr552Ala)
c.1651A>G (p.Thr551Ala)
c.*775A>G (n.*775A>G)
c.*1310A>G (n.*1310A>G)
c.1863A>G (n.1863A>G)
c.1483A>G (p.Thr495Ala)
c.1531A>G (p.Thr511Ala)
c.1627A>G (p.Thr543Ala)
c.1573A>G (p.Thr525Ala)
c.1534A>G (p.Thr512Ala)
18g.33739055A>TCA402176045ASXL3c.1654A>T (p.Thr552Ser)
c.1651A>T (p.Thr551Ser)
c.*775A>T (n.*775A>T)
c.*1310A>T (n.*1310A>T)
c.1863A>T (n.1863A>T)
c.1483A>T (p.Thr495Ser)
c.1531A>T (p.Thr511Ser)
c.1627A>T (p.Thr543Ser)
c.1573A>T (p.Thr525Ser)
c.1534A>T (p.Thr512Ser)
18g.33739056C>ACA402176046ASXL3c.1655C>A (p.Thr552Asn)
c.1652C>A (p.Thr551Asn)
c.*776C>A (n.*776C>A)
c.*1311C>A (n.*1311C>A)
c.1864C>A (n.1864C>A)
c.1484C>A (p.Thr495Asn)
c.1532C>A (p.Thr511Asn)
c.1628C>A (p.Thr543Asn)
c.1574C>A (p.Thr525Asn)
c.1535C>A (p.Thr512Asn)
18g.33739056C>GCA402176048ASXL3c.1655C>G (p.Thr552Ser)
c.1652C>G (p.Thr551Ser)
c.*776C>G (n.*776C>G)
c.*1311C>G (n.*1311C>G)
c.1864C>G (n.1864C>G)
c.1484C>G (p.Thr495Ser)
c.1532C>G (p.Thr511Ser)
c.1628C>G (p.Thr543Ser)
c.1574C>G (p.Thr525Ser)
c.1535C>G (p.Thr512Ser)
18g.33739056C>TCA402176047ASXL3c.1655C>T (p.Thr552Ile)
c.1652C>T (p.Thr551Ile)
c.*776C>T (n.*776C>T)
c.*1311C>T (n.*1311C>T)
c.1864C>T (n.1864C>T)
c.1484C>T (p.Thr495Ile)
c.1532C>T (p.Thr511Ile)
c.1628C>T (p.Thr543Ile)
c.1574C>T (p.Thr525Ile)
c.1535C>T (p.Thr512Ile)
18g.33739057T>ACA503768793ASXL3c.1656T>A (p.Thr552=)
c.1653T>A (p.Thr551=)
c.*777T>A (n.*777T>A)
c.*1312T>A (n.*1312T>A)
c.1865T>A (n.1865T>A)
c.1485T>A (p.Thr495=)
c.1533T>A (p.Thr511=)
c.1629T>A (p.Thr543=)
c.1575T>A (p.Thr525=)
c.1536T>A (p.Thr512=)
18g.33739057T>CCA503768794ASXL3c.1656T>C (p.Thr552=)
c.1653T>C (p.Thr551=)
c.*777T>C (n.*777T>C)
c.*1312T>C (n.*1312T>C)
c.1865T>C (n.1865T>C)
c.1485T>C (p.Thr495=)
c.1533T>C (p.Thr511=)
c.1629T>C (p.Thr543=)
c.1575T>C (p.Thr525=)
c.1536T>C (p.Thr512=)
18g.33739057T>GCA503768796ASXL3c.1656T>G (p.Thr552=)
c.1653T>G (p.Thr551=)
c.*777T>G (n.*777T>G)
c.*1312T>G (n.*1312T>G)
c.1865T>G (n.1865T>G)
c.1485T>G (p.Thr495=)
c.1533T>G (p.Thr511=)
c.1629T>G (p.Thr543=)
c.1575T>G (p.Thr525=)
c.1536T>G (p.Thr512=)
18g.33739058C>ACA402176049ASXL3c.1657C>A (p.His553Asn)
c.1654C>A (p.His552Asn)
c.*778C>A (n.*778C>A)
c.*1313C>A (n.*1313C>A)
c.1866C>A (n.1866C>A)
c.1486C>A (p.His496Asn)
c.1534C>A (p.His512Asn)
c.1630C>A (p.His544Asn)
c.1576C>A (p.His526Asn)
c.1537C>A (p.His513Asn)
COSMIC COSMIC
18g.33739058C=CA2294855801ASXL3c.1657C= (p.His553=)
c.1654C= (p.His552=)
c.*778C= (n.*778C=)
c.*1313C= (n.*1313C=)
c.1866C= (n.1866C=)
c.1486C= (p.His496=)
c.1534C= (p.His512=)
c.1630C= (p.His544=)
c.1576C= (p.His526=)
c.1537C= (p.His513=)
18g.33739058C>GCA402176050ASXL3c.1657C>G (p.His553Asp)
c.1654C>G (p.His552Asp)
c.*778C>G (n.*778C>G)
c.*1313C>G (n.*1313C>G)
c.1866C>G (n.1866C>G)
c.1486C>G (p.His496Asp)
c.1534C>G (p.His512Asp)
c.1630C>G (p.His544Asp)
c.1576C>G (p.His526Asp)
c.1537C>G (p.His513Asp)
18g.33739058C>TCA206097ASXL3c.1657C>T (p.His553Tyr)
c.1654C>T (p.His552Tyr)
c.*778C>T (n.*778C>T)
c.*1313C>T (n.*1313C>T)
c.1866C>T (n.1866C>T)
c.1486C>T (p.His496Tyr)
c.1534C>T (p.His512Tyr)
c.1630C>T (p.His544Tyr)
c.1576C>T (p.His526Tyr)
c.1537C>T (p.His513Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.33739059A=CA2294855802ASXL3c.1658A= (p.His553=)
c.1655A= (p.His552=)
c.*779A= (n.*779A=)
c.*1314A= (n.*1314A=)
c.1867A= (n.1867A=)
c.1487A= (p.His496=)
c.1535A= (p.His512=)
c.1631A= (p.His544=)
c.1577A= (p.His526=)
c.1538A= (p.His513=)
18g.33739059A>CCA402176051ASXL3c.1658A>C (p.His553Pro)
c.1655A>C (p.His552Pro)
c.*779A>C (n.*779A>C)
c.*1314A>C (n.*1314A>C)
c.1867A>C (n.1867A>C)
c.1487A>C (p.His496Pro)
c.1535A>C (p.His512Pro)
c.1631A>C (p.His544Pro)
c.1577A>C (p.His526Pro)
c.1538A>C (p.His513Pro)
18g.33739059A>GCA402176052ASXL3c.1658A>G (p.His553Arg)
c.1655A>G (p.His552Arg)
c.*779A>G (n.*779A>G)
c.*1314A>G (n.*1314A>G)
c.1867A>G (n.1867A>G)
c.1487A>G (p.His496Arg)
c.1535A>G (p.His512Arg)
c.1631A>G (p.His544Arg)
c.1577A>G (p.His526Arg)
c.1538A>G (p.His513Arg)
dbSNP gnomAD v3 gnomAD v4
18g.33739059A>TCA402176053ASXL3c.1658A>T (p.His553Leu)
c.1655A>T (p.His552Leu)
c.*779A>T (n.*779A>T)
c.*1314A>T (n.*1314A>T)
c.1867A>T (n.1867A>T)
c.1487A>T (p.His496Leu)
c.1535A>T (p.His512Leu)
c.1631A>T (p.His544Leu)
c.1577A>T (p.His526Leu)
c.1538A>T (p.His513Leu)
gnomAD v4
18g.33739060T>ACA402176054ASXL3c.1659T>A (p.His553Gln)
c.1656T>A (p.His552Gln)
c.*780T>A (n.*780T>A)
c.*1315T>A (n.*1315T>A)
c.1868T>A (n.1868T>A)
c.1488T>A (p.His496Gln)
c.1536T>A (p.His512Gln)
c.1632T>A (p.His544Gln)
c.1578T>A (p.His526Gln)
c.1539T>A (p.His513Gln)
18g.33739060T>CCA503768801ASXL3c.1659T>C (p.His553=)
c.1656T>C (p.His552=)
c.*780T>C (n.*780T>C)
c.*1315T>C (n.*1315T>C)
c.1868T>C (n.1868T>C)
c.1488T>C (p.His496=)
c.1536T>C (p.His512=)
c.1632T>C (p.His544=)
c.1578T>C (p.His526=)
c.1539T>C (p.His513=)
18g.33739060T>GCA402176055ASXL3c.1659T>G (p.His553Gln)
c.1656T>G (p.His552Gln)
c.*780T>G (n.*780T>G)
c.*1315T>G (n.*1315T>G)
c.1868T>G (n.1868T>G)
c.1488T>G (p.His496Gln)
c.1536T>G (p.His512Gln)
c.1632T>G (p.His544Gln)
c.1578T>G (p.His526Gln)
c.1539T>G (p.His513Gln)
18g.33739061G>ACA402176056ASXL3c.1660G>A (p.Val554Ile)
c.1657G>A (p.Val553Ile)
c.*781G>A (n.*781G>A)
c.*1316G>A (n.*1316G>A)
c.1869G>A (n.1869G>A)
c.1489G>A (p.Val497Ile)
c.1537G>A (p.Val513Ile)
c.1633G>A (p.Val545Ile)
c.1579G>A (p.Val527Ile)
c.1540G>A (p.Val514Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739061G>CCA402176057ASXL3c.1660G>C (p.Val554Leu)
c.1657G>C (p.Val553Leu)
c.*781G>C (n.*781G>C)
c.*1316G>C (n.*1316G>C)
c.1869G>C (n.1869G>C)
c.1489G>C (p.Val497Leu)
c.1537G>C (p.Val513Leu)
c.1633G>C (p.Val545Leu)
c.1579G>C (p.Val527Leu)
c.1540G>C (p.Val514Leu)
18g.33739061G=CA2294855803ASXL3c.1660G= (p.Val554=)
c.1657G= (p.Val553=)
c.*781G= (n.*781G=)
c.*1316G= (n.*1316G=)
c.1869G= (n.1869G=)
c.1489G= (p.Val497=)
c.1537G= (p.Val513=)
c.1633G= (p.Val545=)
c.1579G= (p.Val527=)
c.1540G= (p.Val514=)
18g.33739061G>TCA402176058ASXL3c.1660G>T (p.Val554Phe)
c.1657G>T (p.Val553Phe)
c.*781G>T (n.*781G>T)
c.*1316G>T (n.*1316G>T)
c.1869G>T (n.1869G>T)
c.1489G>T (p.Val497Phe)
c.1537G>T (p.Val513Phe)
c.1633G>T (p.Val545Phe)
c.1579G>T (p.Val527Phe)
c.1540G>T (p.Val514Phe)
18g.33739062T>ACA402176059ASXL3c.1661T>A (p.Val554Asp)
c.1658T>A (p.Val553Asp)
c.*782T>A (n.*782T>A)
c.*1317T>A (n.*1317T>A)
c.1870T>A (n.1870T>A)
c.1490T>A (p.Val497Asp)
c.1538T>A (p.Val513Asp)
c.1634T>A (p.Val545Asp)
c.1580T>A (p.Val527Asp)
c.1541T>A (p.Val514Asp)
18g.33739062T>CCA402176061ASXL3c.1661T>C (p.Val554Ala)
c.1658T>C (p.Val553Ala)
c.*782T>C (n.*782T>C)
c.*1317T>C (n.*1317T>C)
c.1870T>C (n.1870T>C)
c.1490T>C (p.Val497Ala)
c.1538T>C (p.Val513Ala)
c.1634T>C (p.Val545Ala)
c.1580T>C (p.Val527Ala)
c.1541T>C (p.Val514Ala)
18g.33739062T>GCA402176060ASXL3c.1661T>G (p.Val554Gly)
c.1658T>G (p.Val553Gly)
c.*782T>G (n.*782T>G)
c.*1317T>G (n.*1317T>G)
c.1870T>G (n.1870T>G)
c.1490T>G (p.Val497Gly)
c.1538T>G (p.Val513Gly)
c.1634T>G (p.Val545Gly)
c.1580T>G (p.Val527Gly)
c.1541T>G (p.Val514Gly)
18g.33739063C>ACA503768804ASXL3c.1662C>A (p.Val554=)
c.1659C>A (p.Val553=)
c.*783C>A (n.*783C>A)
c.*1318C>A (n.*1318C>A)
c.1871C>A (n.1871C>A)
c.1491C>A (p.Val497=)
c.1539C>A (p.Val513=)
c.1635C>A (p.Val545=)
c.1581C>A (p.Val527=)
c.1542C>A (p.Val514=)
18g.33739063C=CA2294855804ASXL3c.1662C= (p.Val554=)
c.1659C= (p.Val553=)
c.*783C= (n.*783C=)
c.*1318C= (n.*1318C=)
c.1871C= (n.1871C=)
c.1491C= (p.Val497=)
c.1539C= (p.Val513=)
c.1635C= (p.Val545=)
c.1581C= (p.Val527=)
c.1542C= (p.Val514=)
18g.33739063C>GCA503768806ASXL3c.1662C>G (p.Val554=)
c.1659C>G (p.Val553=)
c.*783C>G (n.*783C>G)
c.*1318C>G (n.*1318C>G)
c.1871C>G (n.1871C>G)
c.1491C>G (p.Val497=)
c.1539C>G (p.Val513=)
c.1635C>G (p.Val545=)
c.1581C>G (p.Val527=)
c.1542C>G (p.Val514=)
18g.33739063C>TCA503768808ASXL3c.1662C>T (p.Val554=)
c.1659C>T (p.Val553=)
c.*783C>T (n.*783C>T)
c.*1318C>T (n.*1318C>T)
c.1871C>T (n.1871C>T)
c.1491C>T (p.Val497=)
c.1539C>T (p.Val513=)
c.1635C>T (p.Val545=)
c.1581C>T (p.Val527=)
c.1542C>T (p.Val514=)
dbSNP
18g.33739064A=CA2294855805ASXL3c.1663A= (p.Ser555=)
c.1660A= (p.Ser554=)
c.*784A= (n.*784A=)
c.*1319A= (n.*1319A=)
c.1872A= (n.1872A=)
c.1492A= (p.Ser498=)
c.1540A= (p.Ser514=)
c.1636A= (p.Ser546=)
c.1582A= (p.Ser528=)
c.1543A= (p.Ser515=)
18g.33739064A>CCA402176062ASXL3c.1663A>C (p.Ser555Arg)
c.1660A>C (p.Ser554Arg)
c.*784A>C (n.*784A>C)
c.*1319A>C (n.*1319A>C)
c.1872A>C (n.1872A>C)
c.1492A>C (p.Ser498Arg)
c.1540A>C (p.Ser514Arg)
c.1636A>C (p.Ser546Arg)
c.1582A>C (p.Ser528Arg)
c.1543A>C (p.Ser515Arg)
18g.33739064A>GCA402176063ASXL3c.1663A>G (p.Ser555Gly)
c.1660A>G (p.Ser554Gly)
c.*784A>G (n.*784A>G)
c.*1319A>G (n.*1319A>G)
c.1872A>G (n.1872A>G)
c.1492A>G (p.Ser498Gly)
c.1540A>G (p.Ser514Gly)
c.1636A>G (p.Ser546Gly)
c.1582A>G (p.Ser528Gly)
c.1543A>G (p.Ser515Gly)
dbSNP
18g.33739064A>TCA402176064ASXL3c.1663A>T (p.Ser555Cys)
c.1660A>T (p.Ser554Cys)
c.*784A>T (n.*784A>T)
c.*1319A>T (n.*1319A>T)
c.1872A>T (n.1872A>T)
c.1492A>T (p.Ser498Cys)
c.1540A>T (p.Ser514Cys)
c.1636A>T (p.Ser546Cys)
c.1582A>T (p.Ser528Cys)
c.1543A>T (p.Ser515Cys)
18g.33739065G>ACA8933790ASXL3c.1664G>A (p.Ser555Asn)
c.1661G>A (p.Ser554Asn)
c.*785G>A (n.*785G>A)
c.*1320G>A (n.*1320G>A)
c.1873G>A (n.1873G>A)
c.1493G>A (p.Ser498Asn)
c.1541G>A (p.Ser514Asn)
c.1637G>A (p.Ser546Asn)
c.1583G>A (p.Ser528Asn)
c.1544G>A (p.Ser515Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739065G>CCA402176065ASXL3c.1664G>C (p.Ser555Thr)
c.1661G>C (p.Ser554Thr)
c.*785G>C (n.*785G>C)
c.*1320G>C (n.*1320G>C)
c.1873G>C (n.1873G>C)
c.1493G>C (p.Ser498Thr)
c.1541G>C (p.Ser514Thr)
c.1637G>C (p.Ser546Thr)
c.1583G>C (p.Ser528Thr)
c.1544G>C (p.Ser515Thr)
18g.33739065G=CA2294855806ASXL3c.1664G= (p.Ser555=)
c.1661G= (p.Ser554=)
c.*785G= (n.*785G=)
c.*1320G= (n.*1320G=)
c.1873G= (n.1873G=)
c.1493G= (p.Ser498=)
c.1541G= (p.Ser514=)
c.1637G= (p.Ser546=)
c.1583G= (p.Ser528=)
c.1544G= (p.Ser515=)
18g.33739065G>TCA402176066ASXL3c.1664G>T (p.Ser555Ile)
c.1661G>T (p.Ser554Ile)
c.*785G>T (n.*785G>T)
c.*1320G>T (n.*1320G>T)
c.1873G>T (n.1873G>T)
c.1493G>T (p.Ser498Ile)
c.1541G>T (p.Ser514Ile)
c.1637G>T (p.Ser546Ile)
c.1583G>T (p.Ser528Ile)
c.1544G>T (p.Ser515Ile)
18g.33739066T>ACA402176067ASXL3c.1665T>A (p.Ser555Arg)
c.1662T>A (p.Ser554Arg)
c.*786T>A (n.*786T>A)
c.*1321T>A (n.*1321T>A)
c.1874T>A (n.1874T>A)
c.1494T>A (p.Ser498Arg)
c.1542T>A (p.Ser514Arg)
c.1638T>A (p.Ser546Arg)
c.1584T>A (p.Ser528Arg)
c.1545T>A (p.Ser515Arg)
dbSNP
18g.33739066T>CCA503768812ASXL3c.1665T>C (p.Ser555=)
c.1662T>C (p.Ser554=)
c.*786T>C (n.*786T>C)
c.*1321T>C (n.*1321T>C)
c.1874T>C (n.1874T>C)
c.1494T>C (p.Ser498=)
c.1542T>C (p.Ser514=)
c.1638T>C (p.Ser546=)
c.1584T>C (p.Ser528=)
c.1545T>C (p.Ser515=)
18g.33739066T>GCA402176068ASXL3c.1665T>G (p.Ser555Arg)
c.1662T>G (p.Ser554Arg)
c.*786T>G (n.*786T>G)
c.*1321T>G (n.*1321T>G)
c.1874T>G (n.1874T>G)
c.1494T>G (p.Ser498Arg)
c.1542T>G (p.Ser514Arg)
c.1638T>G (p.Ser546Arg)
c.1584T>G (p.Ser528Arg)
c.1545T>G (p.Ser515Arg)
18g.33739067G>ACA402176069ASXL3c.1666G>A (p.Asp556Asn)
c.1663G>A (p.Asp555Asn)
c.*787G>A (n.*787G>A)
c.*1322G>A (n.*1322G>A)
c.1875G>A (n.1875G>A)
c.1495G>A (p.Asp499Asn)
c.1543G>A (p.Asp515Asn)
c.1639G>A (p.Asp547Asn)
c.1585G>A (p.Asp529Asn)
c.1546G>A (p.Asp516Asn)
18g.33739067G>CCA402176070ASXL3c.1666G>C (p.Asp556His)
c.1663G>C (p.Asp555His)
c.*787G>C (n.*787G>C)
c.*1322G>C (n.*1322G>C)
c.1875G>C (n.1875G>C)
c.1495G>C (p.Asp499His)
c.1543G>C (p.Asp515His)
c.1639G>C (p.Asp547His)
c.1585G>C (p.Asp529His)
c.1546G>C (p.Asp516His)
18g.33739067G>TCA402176071ASXL3c.1666G>T (p.Asp556Tyr)
c.1663G>T (p.Asp555Tyr)
c.*787G>T (n.*787G>T)
c.*1322G>T (n.*1322G>T)
c.1875G>T (n.1875G>T)
c.1495G>T (p.Asp499Tyr)
c.1543G>T (p.Asp515Tyr)
c.1639G>T (p.Asp547Tyr)
c.1585G>T (p.Asp529Tyr)
c.1546G>T (p.Asp516Tyr)
COSMIC COSMIC
18g.33739068A>CCA402176074ASXL3c.1667A>C (p.Asp556Ala)
c.1664A>C (p.Asp555Ala)
c.*788A>C (n.*788A>C)
c.*1323A>C (n.*1323A>C)
c.1876A>C (n.1876A>C)
c.1496A>C (p.Asp499Ala)
c.1544A>C (p.Asp515Ala)
c.1640A>C (p.Asp547Ala)
c.1586A>C (p.Asp529Ala)
c.1547A>C (p.Asp516Ala)
18g.33739068A>GCA402176073ASXL3c.1667A>G (p.Asp556Gly)
c.1664A>G (p.Asp555Gly)
c.*788A>G (n.*788A>G)
c.*1323A>G (n.*1323A>G)
c.1876A>G (n.1876A>G)
c.1496A>G (p.Asp499Gly)
c.1544A>G (p.Asp515Gly)
c.1640A>G (p.Asp547Gly)
c.1586A>G (p.Asp529Gly)
c.1547A>G (p.Asp516Gly)
18g.33739068A>TCA402176072ASXL3c.1667A>T (p.Asp556Val)
c.1664A>T (p.Asp555Val)
c.*788A>T (n.*788A>T)
c.*1323A>T (n.*1323A>T)
c.1876A>T (n.1876A>T)
c.1496A>T (p.Asp499Val)
c.1544A>T (p.Asp515Val)
c.1640A>T (p.Asp547Val)
c.1586A>T (p.Asp529Val)
c.1547A>T (p.Asp516Val)
18g.33739071_33739072delCA2580612975ASXL3c.1670_1671del (p.Thr557ArgfsTer3)
c.1667_1668del (p.Thr556ArgfsTer3)
c.*791_*792del (n.*791_*792del)
c.*1326_*1327del (n.*1326_*1327del)
c.1879_1880del (n.1879_1880del)
c.1499_1500del (p.Thr500ArgfsTer3)
c.1547_1548del (p.Thr516ArgfsTer3)
c.1643_1644del (p.Thr548ArgfsTer3)
c.1589_1590del (p.Thr530ArgfsTer3)
c.1550_1551del (p.Thr517ArgfsTer3)
ClinVar dbSNP
18g.33739069C>ACA402176075ASXL3c.1668C>A (p.Asp556Glu)
c.1665C>A (p.Asp555Glu)
c.*789C>A (n.*789C>A)
c.*1324C>A (n.*1324C>A)
c.1877C>A (n.1877C>A)
c.1497C>A (p.Asp499Glu)
c.1545C>A (p.Asp515Glu)
c.1641C>A (p.Asp547Glu)
c.1587C>A (p.Asp529Glu)
c.1548C>A (p.Asp516Glu)
18g.33739069C=CA2294855807ASXL3c.1668C= (p.Asp556=)
c.1665C= (p.Asp555=)
c.*789C= (n.*789C=)
c.*1324C= (n.*1324C=)
c.1877C= (n.1877C=)
c.1497C= (p.Asp499=)
c.1545C= (p.Asp515=)
c.1641C= (p.Asp547=)
c.1587C= (p.Asp529=)
c.1548C= (p.Asp516=)
18g.33739069C>GCA402176076ASXL3c.1668C>G (p.Asp556Glu)
c.1665C>G (p.Asp555Glu)
c.*789C>G (n.*789C>G)
c.*1324C>G (n.*1324C>G)
c.1877C>G (n.1877C>G)
c.1497C>G (p.Asp499Glu)
c.1545C>G (p.Asp515Glu)
c.1641C>G (p.Asp547Glu)
c.1587C>G (p.Asp529Glu)
c.1548C>G (p.Asp516Glu)
18g.33739069C>TCA503768818ASXL3c.1668C>T (p.Asp556=)
c.1665C>T (p.Asp555=)
c.*789C>T (n.*789C>T)
c.*1324C>T (n.*1324C>T)
c.1877C>T (n.1877C>T)
c.1497C>T (p.Asp499=)
c.1545C>T (p.Asp515=)
c.1641C>T (p.Asp547=)
c.1587C>T (p.Asp529=)
c.1548C>T (p.Asp516=)
dbSNP gnomAD v2 gnomAD v4
18g.33739070A>CCA402176077ASXL3c.1669A>C (p.Thr557Pro)
c.1666A>C (p.Thr556Pro)
c.*790A>C (n.*790A>C)
c.*1325A>C (n.*1325A>C)
c.1878A>C (n.1878A>C)
c.1498A>C (p.Thr500Pro)
c.1546A>C (p.Thr516Pro)
c.1642A>C (p.Thr548Pro)
c.1588A>C (p.Thr530Pro)
c.1549A>C (p.Thr517Pro)
18g.33739070A>GCA402176078ASXL3c.1669A>G (p.Thr557Ala)
c.1666A>G (p.Thr556Ala)
c.*790A>G (n.*790A>G)
c.*1325A>G (n.*1325A>G)
c.1878A>G (n.1878A>G)
c.1498A>G (p.Thr500Ala)
c.1546A>G (p.Thr516Ala)
c.1642A>G (p.Thr548Ala)
c.1588A>G (p.Thr530Ala)
c.1549A>G (p.Thr517Ala)
18g.33739070A>TCA402176079ASXL3c.1669A>T (p.Thr557Ser)
c.1666A>T (p.Thr556Ser)
c.*790A>T (n.*790A>T)
c.*1325A>T (n.*1325A>T)
c.1878A>T (n.1878A>T)
c.1498A>T (p.Thr500Ser)
c.1546A>T (p.Thr516Ser)
c.1642A>T (p.Thr548Ser)
c.1588A>T (p.Thr530Ser)
c.1549A>T (p.Thr517Ser)
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.33739071C>ACA402176080ASXL3c.1670C>A (p.Thr557Lys)
c.1667C>A (p.Thr556Lys)
c.*791C>A (n.*791C>A)
c.*1326C>A (n.*1326C>A)
c.1879C>A (n.1879C>A)
c.1499C>A (p.Thr500Lys)
c.1547C>A (p.Thr516Lys)
c.1643C>A (p.Thr548Lys)
c.1589C>A (p.Thr530Lys)
c.1550C>A (p.Thr517Lys)
18g.33739071C=CA2294855809ASXL3c.1670C= (p.Thr557=)
c.1667C= (p.Thr556=)
c.*791C= (n.*791C=)
c.*1326C= (n.*1326C=)
c.1879C= (n.1879C=)
c.1499C= (p.Thr500=)
c.1547C= (p.Thr516=)
c.1643C= (p.Thr548=)
c.1589C= (p.Thr530=)
c.1550C= (p.Thr517=)
18g.33739071C>GCA402176081ASXL3c.1670C>G (p.Thr557Arg)
c.1667C>G (p.Thr556Arg)
c.*791C>G (n.*791C>G)
c.*1326C>G (n.*1326C>G)
c.1879C>G (n.1879C>G)
c.1499C>G (p.Thr500Arg)
c.1547C>G (p.Thr516Arg)
c.1643C>G (p.Thr548Arg)
c.1589C>G (p.Thr530Arg)
c.1550C>G (p.Thr517Arg)
18g.33739071C>TCA402176082ASXL3c.1670C>T (p.Thr557Ile)
c.1667C>T (p.Thr556Ile)
c.*791C>T (n.*791C>T)
c.*1326C>T (n.*1326C>T)
c.1879C>T (n.1879C>T)
c.1499C>T (p.Thr500Ile)
c.1547C>T (p.Thr516Ile)
c.1643C>T (p.Thr548Ile)
c.1589C>T (p.Thr530Ile)
c.1550C>T (p.Thr517Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
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.33739072A=CA2294855810ASXL3c.1671A= (p.Thr557=)
c.1668A= (p.Thr556=)
c.*792A= (n.*792A=)
c.*1327A= (n.*1327A=)
c.1880A= (n.1880A=)
c.1500A= (p.Thr500=)
c.1548A= (p.Thr516=)
c.1644A= (p.Thr548=)
c.1590A= (p.Thr530=)
c.1551A= (p.Thr517=)
18g.33739072A>CCA503768822ASXL3c.1671A>C (p.Thr557=)
c.1668A>C (p.Thr556=)
c.*792A>C (n.*792A>C)
c.*1327A>C (n.*1327A>C)
c.1880A>C (n.1880A>C)
c.1500A>C (p.Thr500=)
c.1548A>C (p.Thr516=)
c.1644A>C (p.Thr548=)
c.1590A>C (p.Thr530=)
c.1551A>C (p.Thr517=)
18g.33739072A>GCA503768824ASXL3c.1671A>G (p.Thr557=)
c.1668A>G (p.Thr556=)
c.*792A>G (n.*792A>G)
c.*1327A>G (n.*1327A>G)
c.1880A>G (n.1880A>G)
c.1500A>G (p.Thr500=)
c.1548A>G (p.Thr516=)
c.1644A>G (p.Thr548=)
c.1590A>G (p.Thr530=)
c.1551A>G (p.Thr517=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739072A>TCA503768826ASXL3c.1671A>T (p.Thr557=)
c.1668A>T (p.Thr556=)
c.*792A>T (n.*792A>T)
c.*1327A>T (n.*1327A>T)
c.1880A>T (n.1880A>T)
c.1500A>T (p.Thr500=)
c.1548A>T (p.Thr516=)
c.1644A>T (p.Thr548=)
c.1590A>T (p.Thr530=)
c.1551A>T (p.Thr517=)
18g.33739073G>ACA402176083ASXL3c.1672G>A (p.Glu558Lys)
c.1669G>A (p.Glu557Lys)
c.*793G>A (n.*793G>A)
c.*1328G>A (n.*1328G>A)
c.1881G>A (n.1881G>A)
c.1501G>A (p.Glu501Lys)
c.1549G>A (p.Glu517Lys)
c.1645G>A (p.Glu549Lys)
c.1591G>A (p.Glu531Lys)
c.1552G>A (p.Glu518Lys)
18g.33739073G>CCA402176084ASXL3c.1672G>C (p.Glu558Gln)
c.1669G>C (p.Glu557Gln)
c.*793G>C (n.*793G>C)
c.*1328G>C (n.*1328G>C)
c.1881G>C (n.1881G>C)
c.1501G>C (p.Glu501Gln)
c.1549G>C (p.Glu517Gln)
c.1645G>C (p.Glu549Gln)
c.1591G>C (p.Glu531Gln)
c.1552G>C (p.Glu518Gln)
18g.33739073G=CA2294855811ASXL3c.1672G= (p.Glu558=)
c.1669G= (p.Glu557=)
c.*793G= (n.*793G=)
c.*1328G= (n.*1328G=)
c.1881G= (n.1881G=)
c.1501G= (p.Glu501=)
c.1549G= (p.Glu517=)
c.1645G= (p.Glu549=)
c.1591G= (p.Glu531=)
c.1552G= (p.Glu518=)
18g.33739073G>TCA402176085ASXL3c.1672G>T (p.Glu558Ter)
c.1669G>T (p.Glu557Ter)
c.*793G>T (n.*793G>T)
c.*1328G>T (n.*1328G>T)
c.1881G>T (n.1881G>T)
c.1501G>T (p.Glu501Ter)
c.1549G>T (p.Glu517Ter)
c.1645G>T (p.Glu549Ter)
c.1591G>T (p.Glu531Ter)
c.1552G>T (p.Glu518Ter)
ClinVar dbSNP
18g.33739074A>CCA402176087ASXL3c.1673A>C (p.Glu558Ala)
c.1670A>C (p.Glu557Ala)
c.*794A>C (n.*794A>C)
c.*1329A>C (n.*1329A>C)
c.1882A>C (n.1882A>C)
c.1502A>C (p.Glu501Ala)
c.1550A>C (p.Glu517Ala)
c.1646A>C (p.Glu549Ala)
c.1592A>C (p.Glu531Ala)
c.1553A>C (p.Glu518Ala)
gnomAD v4
18g.33739074A>GCA402176088ASXL3c.1673A>G (p.Glu558Gly)
c.1670A>G (p.Glu557Gly)
c.*794A>G (n.*794A>G)
c.*1329A>G (n.*1329A>G)
c.1882A>G (n.1882A>G)
c.1502A>G (p.Glu501Gly)
c.1550A>G (p.Glu517Gly)
c.1646A>G (p.Glu549Gly)
c.1592A>G (p.Glu531Gly)
c.1553A>G (p.Glu518Gly)
18g.33739074A>TCA402176086ASXL3c.1673A>T (p.Glu558Val)
c.1670A>T (p.Glu557Val)
c.*794A>T (n.*794A>T)
c.*1329A>T (n.*1329A>T)
c.1882A>T (n.1882A>T)
c.1502A>T (p.Glu501Val)
c.1550A>T (p.Glu517Val)
c.1646A>T (p.Glu549Val)
c.1592A>T (p.Glu531Val)
c.1553A>T (p.Glu518Val)
18g.33739075A=CA2294855812ASXL3c.1674A= (p.Glu558=)
c.1671A= (p.Glu557=)
c.*795A= (n.*795A=)
c.*1330A= (n.*1330A=)
c.1883A= (n.1883A=)
c.1503A= (p.Glu501=)
c.1551A= (p.Glu517=)
c.1647A= (p.Glu549=)
c.1593A= (p.Glu531=)
c.1554A= (p.Glu518=)
18g.33739075A>CCA402176089ASXL3c.1674A>C (p.Glu558Asp)
c.1671A>C (p.Glu557Asp)
c.*795A>C (n.*795A>C)
c.*1330A>C (n.*1330A>C)
c.1883A>C (n.1883A>C)
c.1503A>C (p.Glu501Asp)
c.1551A>C (p.Glu517Asp)
c.1647A>C (p.Glu549Asp)
c.1593A>C (p.Glu531Asp)
c.1554A>C (p.Glu518Asp)
18g.33739075A>GCA297786888ASXL3c.1674A>G (p.Glu558=)
c.1671A>G (p.Glu557=)
c.*795A>G (n.*795A>G)
c.*1330A>G (n.*1330A>G)
c.1883A>G (n.1883A>G)
c.1503A>G (p.Glu501=)
c.1551A>G (p.Glu517=)
c.1647A>G (p.Glu549=)
c.1593A>G (p.Glu531=)
c.1554A>G (p.Glu518=)
dbSNP gnomAD v3 gnomAD v4
18g.33739075A>TCA402176090ASXL3c.1674A>T (p.Glu558Asp)
c.1671A>T (p.Glu557Asp)
c.*795A>T (n.*795A>T)
c.*1330A>T (n.*1330A>T)
c.1883A>T (n.1883A>T)
c.1503A>T (p.Glu501Asp)
c.1551A>T (p.Glu517Asp)
c.1647A>T (p.Glu549Asp)
c.1593A>T (p.Glu531Asp)
c.1554A>T (p.Glu518Asp)
18g.33739076C>ACA402176091ASXL3c.1675C>A (p.His559Asn)
c.1672C>A (p.His558Asn)
c.*796C>A (n.*796C>A)
c.*1331C>A (n.*1331C>A)
c.1884C>A (n.1884C>A)
c.1504C>A (p.His502Asn)
c.1552C>A (p.His518Asn)
c.1648C>A (p.His550Asn)
c.1594C>A (p.His532Asn)
c.1555C>A (p.His519Asn)
18g.33739076C>GCA402176092ASXL3c.1675C>G (p.His559Asp)
c.1672C>G (p.His558Asp)
c.*796C>G (n.*796C>G)
c.*1331C>G (n.*1331C>G)
c.1884C>G (n.1884C>G)
c.1504C>G (p.His502Asp)
c.1552C>G (p.His518Asp)
c.1648C>G (p.His550Asp)
c.1594C>G (p.His532Asp)
c.1555C>G (p.His519Asp)
18g.33739076C>TCA402176093ASXL3c.1675C>T (p.His559Tyr)
c.1672C>T (p.His558Tyr)
c.*796C>T (n.*796C>T)
c.*1331C>T (n.*1331C>T)
c.1884C>T (n.1884C>T)
c.1504C>T (p.His502Tyr)
c.1552C>T (p.His518Tyr)
c.1648C>T (p.His550Tyr)
c.1594C>T (p.His532Tyr)
c.1555C>T (p.His519Tyr)
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)

Number of alleles fetched