Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436410_32436414delCA2577366320ASXL1c.3698_3702del (p.Glu1233ValfsTer5)
c.3515_3519del (p.Glu1172ValfsTer5)
n.6051_6055del
c.1869+1829_1869+1833del (n.1869+1829_1869+1833del)
c.3683_3687del (p.Glu1228ValfsTer5)
c.3695_3699del (p.Glu1232ValfsTer5)
c.3668_3672del (p.Glu1223ValfsTer5)
c.3614_3618del (p.Glu1205ValfsTer5)
c.3014_3018del (p.Glu1005ValfsTer5)
c.3962_3966del (p.Glu1321ValfsTer5)
c.3959_3963del (p.Glu1320ValfsTer5)
c.3878_3882del (p.Glu1293ValfsTer5)
c.3809_3813del (p.Glu1270ValfsTer5)
c.3677_3681del (p.Glu1226ValfsTer5)
c.3545_3549del (p.Glu1182ValfsTer5)
20g.32436410A=CA2360293686ASXL1c.3698A= (p.Glu1233=)
c.3515A= (p.Glu1172=)
n.6051A=
c.1869+1829A= (n.1869+1829A=)
c.3683A= (p.Glu1228=)
c.3695A= (p.Glu1232=)
c.3668A= (p.Glu1223=)
c.3614A= (p.Glu1205=)
c.3014A= (p.Glu1005=)
c.3962A= (p.Glu1321=)
c.3959A= (p.Glu1320=)
c.3878A= (p.Glu1293=)
c.3809A= (p.Glu1270=)
c.3677A= (p.Glu1226=)
c.3545A= (p.Glu1182=)
20g.32436410A>CCA408563606ASXL1c.3698A>C (p.Glu1233Ala)
c.3515A>C (p.Glu1172Ala)
n.6051A>C
c.1869+1829A>C (n.1869+1829A>C)
c.3683A>C (p.Glu1228Ala)
c.3695A>C (p.Glu1232Ala)
c.3668A>C (p.Glu1223Ala)
c.3614A>C (p.Glu1205Ala)
c.3014A>C (p.Glu1005Ala)
c.3962A>C (p.Glu1321Ala)
c.3959A>C (p.Glu1320Ala)
c.3878A>C (p.Glu1293Ala)
c.3809A>C (p.Glu1270Ala)
c.3677A>C (p.Glu1226Ala)
c.3545A>C (p.Glu1182Ala)
20g.32436410A>GCA408563607ASXL1c.3698A>G (p.Glu1233Gly)
c.3515A>G (p.Glu1172Gly)
n.6051A>G
c.1869+1829A>G (n.1869+1829A>G)
c.3683A>G (p.Glu1228Gly)
c.3695A>G (p.Glu1232Gly)
c.3668A>G (p.Glu1223Gly)
c.3614A>G (p.Glu1205Gly)
c.3014A>G (p.Glu1005Gly)
c.3962A>G (p.Glu1321Gly)
c.3959A>G (p.Glu1320Gly)
c.3878A>G (p.Glu1293Gly)
c.3809A>G (p.Glu1270Gly)
c.3677A>G (p.Glu1226Gly)
c.3545A>G (p.Glu1182Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.32436410A>TCA408563608ASXL1c.3698A>T (p.Glu1233Val)
c.3515A>T (p.Glu1172Val)
n.6051A>T
c.1869+1829A>T (n.1869+1829A>T)
c.3683A>T (p.Glu1228Val)
c.3695A>T (p.Glu1232Val)
c.3668A>T (p.Glu1223Val)
c.3614A>T (p.Glu1205Val)
c.3014A>T (p.Glu1005Val)
c.3962A>T (p.Glu1321Val)
c.3959A>T (p.Glu1320Val)
c.3878A>T (p.Glu1293Val)
c.3809A>T (p.Glu1270Val)
c.3677A>T (p.Glu1226Val)
c.3545A>T (p.Glu1182Val)
20g.32436411G>ACA9808881ASXL1c.3699G>A (p.Glu1233=)
c.3516G>A (p.Glu1172=)
n.6052G>A
c.1869+1830G>A (n.1869+1830G>A)
c.3684G>A (p.Glu1228=)
c.3696G>A (p.Glu1232=)
c.3669G>A (p.Glu1223=)
c.3615G>A (p.Glu1205=)
c.3015G>A (p.Glu1005=)
c.3963G>A (p.Glu1321=)
c.3960G>A (p.Glu1320=)
c.3879G>A (p.Glu1293=)
c.3810G>A (p.Glu1270=)
c.3678G>A (p.Glu1226=)
c.3546G>A (p.Glu1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436411G>CCA408563610ASXL1c.3699G>C (p.Glu1233Asp)
c.3516G>C (p.Glu1172Asp)
n.6052G>C
c.1869+1830G>C (n.1869+1830G>C)
c.3684G>C (p.Glu1228Asp)
c.3696G>C (p.Glu1232Asp)
c.3669G>C (p.Glu1223Asp)
c.3615G>C (p.Glu1205Asp)
c.3015G>C (p.Glu1005Asp)
c.3963G>C (p.Glu1321Asp)
c.3960G>C (p.Glu1320Asp)
c.3879G>C (p.Glu1293Asp)
c.3810G>C (p.Glu1270Asp)
c.3678G>C (p.Glu1226Asp)
c.3546G>C (p.Glu1182Asp)
20g.32436411G=CA2360293687ASXL1c.3699G= (p.Glu1233=)
c.3516G= (p.Glu1172=)
n.6052G=
c.1869+1830G= (n.1869+1830G=)
c.3684G= (p.Glu1228=)
c.3696G= (p.Glu1232=)
c.3669G= (p.Glu1223=)
c.3615G= (p.Glu1205=)
c.3015G= (p.Glu1005=)
c.3963G= (p.Glu1321=)
c.3960G= (p.Glu1320=)
c.3879G= (p.Glu1293=)
c.3810G= (p.Glu1270=)
c.3678G= (p.Glu1226=)
c.3546G= (p.Glu1182=)
20g.32436411G>TCA408563609ASXL1c.3699G>T (p.Glu1233Asp)
c.3516G>T (p.Glu1172Asp)
n.6052G>T
c.1869+1830G>T (n.1869+1830G>T)
c.3684G>T (p.Glu1228Asp)
c.3696G>T (p.Glu1232Asp)
c.3669G>T (p.Glu1223Asp)
c.3615G>T (p.Glu1205Asp)
c.3015G>T (p.Glu1005Asp)
c.3963G>T (p.Glu1321Asp)
c.3960G>T (p.Glu1320Asp)
c.3879G>T (p.Glu1293Asp)
c.3810G>T (p.Glu1270Asp)
c.3678G>T (p.Glu1226Asp)
c.3546G>T (p.Glu1182Asp)
 gnomAD v4
20g.32436412C>ACA408563611ASXL1c.3700C>A (p.Gln1234Lys)
c.3517C>A (p.Gln1173Lys)
n.6053C>A
c.1869+1831C>A (n.1869+1831C>A)
c.3685C>A (p.Gln1229Lys)
c.3697C>A (p.Gln1233Lys)
c.3670C>A (p.Gln1224Lys)
c.3616C>A (p.Gln1206Lys)
c.3016C>A (p.Gln1006Lys)
c.3964C>A (p.Gln1322Lys)
c.3961C>A (p.Gln1321Lys)
c.3880C>A (p.Gln1294Lys)
c.3811C>A (p.Gln1271Lys)
c.3679C>A (p.Gln1227Lys)
c.3547C>A (p.Gln1183Lys)
 dbSNP
20g.32436412C=CA2360293688ASXL1c.3700C= (p.Gln1234=)
c.3517C= (p.Gln1173=)
n.6053C=
c.1869+1831C= (n.1869+1831C=)
c.3685C= (p.Gln1229=)
c.3697C= (p.Gln1233=)
c.3670C= (p.Gln1224=)
c.3616C= (p.Gln1206=)
c.3016C= (p.Gln1006=)
c.3964C= (p.Gln1322=)
c.3961C= (p.Gln1321=)
c.3880C= (p.Gln1294=)
c.3811C= (p.Gln1271=)
c.3679C= (p.Gln1227=)
c.3547C= (p.Gln1183=)
20g.32436412C>GCA408563612ASXL1c.3700C>G (p.Gln1234Glu)
c.3517C>G (p.Gln1173Glu)
n.6053C>G
c.1869+1831C>G (n.1869+1831C>G)
c.3685C>G (p.Gln1229Glu)
c.3697C>G (p.Gln1233Glu)
c.3670C>G (p.Gln1224Glu)
c.3616C>G (p.Gln1206Glu)
c.3016C>G (p.Gln1006Glu)
c.3964C>G (p.Gln1322Glu)
c.3961C>G (p.Gln1321Glu)
c.3880C>G (p.Gln1294Glu)
c.3811C>G (p.Gln1271Glu)
c.3679C>G (p.Gln1227Glu)
c.3547C>G (p.Gln1183Glu)
20g.32436412C>TCA408563613ASXL1c.3700C>T (p.Gln1234Ter)
c.3517C>T (p.Gln1173Ter)
n.6053C>T
c.1869+1831C>T (n.1869+1831C>T)
c.3685C>T (p.Gln1229Ter)
c.3697C>T (p.Gln1233Ter)
c.3670C>T (p.Gln1224Ter)
c.3616C>T (p.Gln1206Ter)
c.3016C>T (p.Gln1006Ter)
c.3964C>T (p.Gln1322Ter)
c.3961C>T (p.Gln1321Ter)
c.3880C>T (p.Gln1294Ter)
c.3811C>T (p.Gln1271Ter)
c.3679C>T (p.Gln1227Ter)
c.3547C>T (p.Gln1183Ter)
 ClinVar dbSNP
20g.32436413A>CCA408563614ASXL1c.3701A>C (p.Gln1234Pro)
c.3518A>C (p.Gln1173Pro)
n.6054A>C
c.1869+1832A>C (n.1869+1832A>C)
c.3686A>C (p.Gln1229Pro)
c.3698A>C (p.Gln1233Pro)
c.3671A>C (p.Gln1224Pro)
c.3617A>C (p.Gln1206Pro)
c.3017A>C (p.Gln1006Pro)
c.3965A>C (p.Gln1322Pro)
c.3962A>C (p.Gln1321Pro)
c.3881A>C (p.Gln1294Pro)
c.3812A>C (p.Gln1271Pro)
c.3680A>C (p.Gln1227Pro)
c.3548A>C (p.Gln1183Pro)
20g.32436413A>GCA408563615ASXL1c.3701A>G (p.Gln1234Arg)
c.3518A>G (p.Gln1173Arg)
n.6054A>G
c.1869+1832A>G (n.1869+1832A>G)
c.3686A>G (p.Gln1229Arg)
c.3698A>G (p.Gln1233Arg)
c.3671A>G (p.Gln1224Arg)
c.3617A>G (p.Gln1206Arg)
c.3017A>G (p.Gln1006Arg)
c.3965A>G (p.Gln1322Arg)
c.3962A>G (p.Gln1321Arg)
c.3881A>G (p.Gln1294Arg)
c.3812A>G (p.Gln1271Arg)
c.3680A>G (p.Gln1227Arg)
c.3548A>G (p.Gln1183Arg)
 gnomAD v4
20g.32436413A>TCA408563616ASXL1c.3701A>T (p.Gln1234Leu)
c.3518A>T (p.Gln1173Leu)
n.6054A>T
c.1869+1832A>T (n.1869+1832A>T)
c.3686A>T (p.Gln1229Leu)
c.3698A>T (p.Gln1233Leu)
c.3671A>T (p.Gln1224Leu)
c.3617A>T (p.Gln1206Leu)
c.3017A>T (p.Gln1006Leu)
c.3965A>T (p.Gln1322Leu)
c.3962A>T (p.Gln1321Leu)
c.3881A>T (p.Gln1294Leu)
c.3812A>T (p.Gln1271Leu)
c.3680A>T (p.Gln1227Leu)
c.3548A>T (p.Gln1183Leu)
20g.32436414G>ACA510467571ASXL1c.3702G>A (p.Gln1234=)
c.3519G>A (p.Gln1173=)
n.6055G>A
c.1869+1833G>A (n.1869+1833G>A)
c.3687G>A (p.Gln1229=)
c.3699G>A (p.Gln1233=)
c.3672G>A (p.Gln1224=)
c.3618G>A (p.Gln1206=)
c.3018G>A (p.Gln1006=)
c.3966G>A (p.Gln1322=)
c.3963G>A (p.Gln1321=)
c.3882G>A (p.Gln1294=)
c.3813G>A (p.Gln1271=)
c.3681G>A (p.Gln1227=)
c.3549G>A (p.Gln1183=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436414G>CCA408563617ASXL1c.3702G>C (p.Gln1234His)
c.3519G>C (p.Gln1173His)
n.6055G>C
c.1869+1833G>C (n.1869+1833G>C)
c.3687G>C (p.Gln1229His)
c.3699G>C (p.Gln1233His)
c.3672G>C (p.Gln1224His)
c.3618G>C (p.Gln1206His)
c.3018G>C (p.Gln1006His)
c.3966G>C (p.Gln1322His)
c.3963G>C (p.Gln1321His)
c.3882G>C (p.Gln1294His)
c.3813G>C (p.Gln1271His)
c.3681G>C (p.Gln1227His)
c.3549G>C (p.Gln1183His)
20g.32436414G=CA2360293689ASXL1c.3702G= (p.Gln1234=)
c.3519G= (p.Gln1173=)
n.6055G=
c.1869+1833G= (n.1869+1833G=)
c.3687G= (p.Gln1229=)
c.3699G= (p.Gln1233=)
c.3672G= (p.Gln1224=)
c.3618G= (p.Gln1206=)
c.3018G= (p.Gln1006=)
c.3966G= (p.Gln1322=)
c.3963G= (p.Gln1321=)
c.3882G= (p.Gln1294=)
c.3813G= (p.Gln1271=)
c.3681G= (p.Gln1227=)
c.3549G= (p.Gln1183=)
20g.32436414G>TCA408563618ASXL1c.3702G>T (p.Gln1234His)
c.3519G>T (p.Gln1173His)
n.6055G>T
c.1869+1833G>T (n.1869+1833G>T)
c.3687G>T (p.Gln1229His)
c.3699G>T (p.Gln1233His)
c.3672G>T (p.Gln1224His)
c.3618G>T (p.Gln1206His)
c.3018G>T (p.Gln1006His)
c.3966G>T (p.Gln1322His)
c.3963G>T (p.Gln1321His)
c.3882G>T (p.Gln1294His)
c.3813G>T (p.Gln1271His)
c.3681G>T (p.Gln1227His)
c.3549G>T (p.Gln1183His)
20g.32436415T>ACA408563619ASXL1c.3703T>A (p.Phe1235Ile)
c.3520T>A (p.Phe1174Ile)
n.6056T>A
c.1869+1834T>A (n.1869+1834T>A)
c.3688T>A (p.Phe1230Ile)
c.3700T>A (p.Phe1234Ile)
c.3673T>A (p.Phe1225Ile)
c.3619T>A (p.Phe1207Ile)
c.3019T>A (p.Phe1007Ile)
c.3967T>A (p.Phe1323Ile)
c.3964T>A (p.Phe1322Ile)
c.3883T>A (p.Phe1295Ile)
c.3814T>A (p.Phe1272Ile)
c.3682T>A (p.Phe1228Ile)
c.3550T>A (p.Phe1184Ile)
20g.32436415T>CCA408563620ASXL1c.3703T>C (p.Phe1235Leu)
c.3520T>C (p.Phe1174Leu)
n.6056T>C
c.1869+1834T>C (n.1869+1834T>C)
c.3688T>C (p.Phe1230Leu)
c.3700T>C (p.Phe1234Leu)
c.3673T>C (p.Phe1225Leu)
c.3619T>C (p.Phe1207Leu)
c.3019T>C (p.Phe1007Leu)
c.3967T>C (p.Phe1323Leu)
c.3964T>C (p.Phe1322Leu)
c.3883T>C (p.Phe1295Leu)
c.3814T>C (p.Phe1272Leu)
c.3682T>C (p.Phe1228Leu)
c.3550T>C (p.Phe1184Leu)
20g.32436415T>GCA408563621ASXL1c.3703T>G (p.Phe1235Val)
c.3520T>G (p.Phe1174Val)
n.6056T>G
c.1869+1834T>G (n.1869+1834T>G)
c.3688T>G (p.Phe1230Val)
c.3700T>G (p.Phe1234Val)
c.3673T>G (p.Phe1225Val)
c.3619T>G (p.Phe1207Val)
c.3019T>G (p.Phe1007Val)
c.3967T>G (p.Phe1323Val)
c.3964T>G (p.Phe1322Val)
c.3883T>G (p.Phe1295Val)
c.3814T>G (p.Phe1272Val)
c.3682T>G (p.Phe1228Val)
c.3550T>G (p.Phe1184Val)
 dbSNP gnomAD v2 gnomAD v4
20g.32436415T=CA2360293690ASXL1c.3703T= (p.Phe1235=)
c.3520T= (p.Phe1174=)
n.6056T=
c.1869+1834T= (n.1869+1834T=)
c.3688T= (p.Phe1230=)
c.3700T= (p.Phe1234=)
c.3673T= (p.Phe1225=)
c.3619T= (p.Phe1207=)
c.3019T= (p.Phe1007=)
c.3967T= (p.Phe1323=)
c.3964T= (p.Phe1322=)
c.3883T= (p.Phe1295=)
c.3814T= (p.Phe1272=)
c.3682T= (p.Phe1228=)
c.3550T= (p.Phe1184=)
20g.32436416T>ACA408563623ASXL1c.3704T>A (p.Phe1235Tyr)
c.3521T>A (p.Phe1174Tyr)
n.6057T>A
c.1869+1835T>A (n.1869+1835T>A)
c.3689T>A (p.Phe1230Tyr)
c.3701T>A (p.Phe1234Tyr)
c.3674T>A (p.Phe1225Tyr)
c.3620T>A (p.Phe1207Tyr)
c.3020T>A (p.Phe1007Tyr)
c.3968T>A (p.Phe1323Tyr)
c.3965T>A (p.Phe1322Tyr)
c.3884T>A (p.Phe1295Tyr)
c.3815T>A (p.Phe1272Tyr)
c.3683T>A (p.Phe1228Tyr)
c.3551T>A (p.Phe1184Tyr)
20g.32436416T>CCA408563624ASXL1c.3704T>C (p.Phe1235Ser)
c.3521T>C (p.Phe1174Ser)
n.6057T>C
c.1869+1835T>C (n.1869+1835T>C)
c.3689T>C (p.Phe1230Ser)
c.3701T>C (p.Phe1234Ser)
c.3674T>C (p.Phe1225Ser)
c.3620T>C (p.Phe1207Ser)
c.3020T>C (p.Phe1007Ser)
c.3968T>C (p.Phe1323Ser)
c.3965T>C (p.Phe1322Ser)
c.3884T>C (p.Phe1295Ser)
c.3815T>C (p.Phe1272Ser)
c.3683T>C (p.Phe1228Ser)
c.3551T>C (p.Phe1184Ser)
20g.32436416T>GCA408563622ASXL1c.3704T>G (p.Phe1235Cys)
c.3521T>G (p.Phe1174Cys)
n.6057T>G
c.1869+1835T>G (n.1869+1835T>G)
c.3689T>G (p.Phe1230Cys)
c.3701T>G (p.Phe1234Cys)
c.3674T>G (p.Phe1225Cys)
c.3620T>G (p.Phe1207Cys)
c.3020T>G (p.Phe1007Cys)
c.3968T>G (p.Phe1323Cys)
c.3965T>G (p.Phe1322Cys)
c.3884T>G (p.Phe1295Cys)
c.3815T>G (p.Phe1272Cys)
c.3683T>G (p.Phe1228Cys)
c.3551T>G (p.Phe1184Cys)
20g.32436417C>ACA408563626ASXL1c.3705C>A (p.Phe1235Leu)
c.3522C>A (p.Phe1174Leu)
n.6058C>A
c.1869+1836C>A (n.1869+1836C>A)
c.3690C>A (p.Phe1230Leu)
c.3702C>A (p.Phe1234Leu)
c.3675C>A (p.Phe1225Leu)
c.3621C>A (p.Phe1207Leu)
c.3021C>A (p.Phe1007Leu)
c.3969C>A (p.Phe1323Leu)
c.3966C>A (p.Phe1322Leu)
c.3885C>A (p.Phe1295Leu)
c.3816C>A (p.Phe1272Leu)
c.3684C>A (p.Phe1228Leu)
c.3552C>A (p.Phe1184Leu)
20g.32436417C>GCA408563625ASXL1c.3705C>G (p.Phe1235Leu)
c.3522C>G (p.Phe1174Leu)
n.6058C>G
c.1869+1836C>G (n.1869+1836C>G)
c.3690C>G (p.Phe1230Leu)
c.3702C>G (p.Phe1234Leu)
c.3675C>G (p.Phe1225Leu)
c.3621C>G (p.Phe1207Leu)
c.3021C>G (p.Phe1007Leu)
c.3969C>G (p.Phe1323Leu)
c.3966C>G (p.Phe1322Leu)
c.3885C>G (p.Phe1295Leu)
c.3816C>G (p.Phe1272Leu)
c.3684C>G (p.Phe1228Leu)
c.3552C>G (p.Phe1184Leu)
20g.32436417C>TCA510467575ASXL1c.3705C>T (p.Phe1235=)
c.3522C>T (p.Phe1174=)
n.6058C>T
c.1869+1836C>T (n.1869+1836C>T)
c.3690C>T (p.Phe1230=)
c.3702C>T (p.Phe1234=)
c.3675C>T (p.Phe1225=)
c.3621C>T (p.Phe1207=)
c.3021C>T (p.Phe1007=)
c.3969C>T (p.Phe1323=)
c.3966C>T (p.Phe1322=)
c.3885C>T (p.Phe1295=)
c.3816C>T (p.Phe1272=)
c.3684C>T (p.Phe1228=)
c.3552C>T (p.Phe1184=)
 gnomAD v4
20g.32436418T>ACA408563628ASXL1c.3706T>A (p.Ser1236Thr)
c.3523T>A (p.Ser1175Thr)
n.6059T>A
c.1869+1837T>A (n.1869+1837T>A)
c.3691T>A (p.Ser1231Thr)
c.3703T>A (p.Ser1235Thr)
c.3676T>A (p.Ser1226Thr)
c.3622T>A (p.Ser1208Thr)
c.3022T>A (p.Ser1008Thr)
c.3970T>A (p.Ser1324Thr)
c.3967T>A (p.Ser1323Thr)
c.3886T>A (p.Ser1296Thr)
c.3817T>A (p.Ser1273Thr)
c.3685T>A (p.Ser1229Thr)
c.3553T>A (p.Ser1185Thr)
20g.32436418T>CCA408563627ASXL1c.3706T>C (p.Ser1236Pro)
c.3523T>C (p.Ser1175Pro)
n.6059T>C
c.1869+1837T>C (n.1869+1837T>C)
c.3691T>C (p.Ser1231Pro)
c.3703T>C (p.Ser1235Pro)
c.3676T>C (p.Ser1226Pro)
c.3622T>C (p.Ser1208Pro)
c.3022T>C (p.Ser1008Pro)
c.3970T>C (p.Ser1324Pro)
c.3967T>C (p.Ser1323Pro)
c.3886T>C (p.Ser1296Pro)
c.3817T>C (p.Ser1273Pro)
c.3685T>C (p.Ser1229Pro)
c.3553T>C (p.Ser1185Pro)
20g.32436418T>GCA9808882ASXL1c.3706T>G (p.Ser1236Ala)
c.3523T>G (p.Ser1175Ala)
n.6059T>G
c.1869+1837T>G (n.1869+1837T>G)
c.3691T>G (p.Ser1231Ala)
c.3703T>G (p.Ser1235Ala)
c.3676T>G (p.Ser1226Ala)
c.3622T>G (p.Ser1208Ala)
c.3022T>G (p.Ser1008Ala)
c.3970T>G (p.Ser1324Ala)
c.3967T>G (p.Ser1323Ala)
c.3886T>G (p.Ser1296Ala)
c.3817T>G (p.Ser1273Ala)
c.3685T>G (p.Ser1229Ala)
c.3553T>G (p.Ser1185Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436418T=CA2360293691ASXL1c.3706T= (p.Ser1236=)
c.3523T= (p.Ser1175=)
n.6059T=
c.1869+1837T= (n.1869+1837T=)
c.3691T= (p.Ser1231=)
c.3703T= (p.Ser1235=)
c.3676T= (p.Ser1226=)
c.3622T= (p.Ser1208=)
c.3022T= (p.Ser1008=)
c.3970T= (p.Ser1324=)
c.3967T= (p.Ser1323=)
c.3886T= (p.Ser1296=)
c.3817T= (p.Ser1273=)
c.3685T= (p.Ser1229=)
c.3553T= (p.Ser1185=)
20g.32436419C>ACA408563629ASXL1c.3707C>A (p.Ser1236Tyr)
c.3524C>A (p.Ser1175Tyr)
n.6060C>A
c.1869+1838C>A (n.1869+1838C>A)
c.3692C>A (p.Ser1231Tyr)
c.3704C>A (p.Ser1235Tyr)
c.3677C>A (p.Ser1226Tyr)
c.3623C>A (p.Ser1208Tyr)
c.3023C>A (p.Ser1008Tyr)
c.3971C>A (p.Ser1324Tyr)
c.3968C>A (p.Ser1323Tyr)
c.3887C>A (p.Ser1296Tyr)
c.3818C>A (p.Ser1273Tyr)
c.3686C>A (p.Ser1229Tyr)
c.3554C>A (p.Ser1185Tyr)
20g.32436419C>GCA408563630ASXL1c.3707C>G (p.Ser1236Cys)
c.3524C>G (p.Ser1175Cys)
n.6060C>G
c.1869+1838C>G (n.1869+1838C>G)
c.3692C>G (p.Ser1231Cys)
c.3704C>G (p.Ser1235Cys)
c.3677C>G (p.Ser1226Cys)
c.3623C>G (p.Ser1208Cys)
c.3023C>G (p.Ser1008Cys)
c.3971C>G (p.Ser1324Cys)
c.3968C>G (p.Ser1323Cys)
c.3887C>G (p.Ser1296Cys)
c.3818C>G (p.Ser1273Cys)
c.3686C>G (p.Ser1229Cys)
c.3554C>G (p.Ser1185Cys)
 dbSNP
20g.32436419C>TCA408563631ASXL1c.3707C>T (p.Ser1236Phe)
c.3524C>T (p.Ser1175Phe)
n.6060C>T
c.1869+1838C>T (n.1869+1838C>T)
c.3692C>T (p.Ser1231Phe)
c.3704C>T (p.Ser1235Phe)
c.3677C>T (p.Ser1226Phe)
c.3623C>T (p.Ser1208Phe)
c.3023C>T (p.Ser1008Phe)
c.3971C>T (p.Ser1324Phe)
c.3968C>T (p.Ser1323Phe)
c.3887C>T (p.Ser1296Phe)
c.3818C>T (p.Ser1273Phe)
c.3686C>T (p.Ser1229Phe)
c.3554C>T (p.Ser1185Phe)
 dbSNP
20g.32436420T>ACA510467580ASXL1c.3708T>A (p.Ser1236=)
c.3525T>A (p.Ser1175=)
n.6061T>A
c.1869+1839T>A (n.1869+1839T>A)
c.3693T>A (p.Ser1231=)
c.3705T>A (p.Ser1235=)
c.3678T>A (p.Ser1226=)
c.3624T>A (p.Ser1208=)
c.3024T>A (p.Ser1008=)
c.3972T>A (p.Ser1324=)
c.3969T>A (p.Ser1323=)
c.3888T>A (p.Ser1296=)
c.3819T>A (p.Ser1273=)
c.3687T>A (p.Ser1229=)
c.3555T>A (p.Ser1185=)
 dbSNP
20g.32436420T>CCA510467577ASXL1c.3708T>C (p.Ser1236=)
c.3525T>C (p.Ser1175=)
n.6061T>C
c.1869+1839T>C (n.1869+1839T>C)
c.3693T>C (p.Ser1231=)
c.3705T>C (p.Ser1235=)
c.3678T>C (p.Ser1226=)
c.3624T>C (p.Ser1208=)
c.3024T>C (p.Ser1008=)
c.3972T>C (p.Ser1324=)
c.3969T>C (p.Ser1323=)
c.3888T>C (p.Ser1296=)
c.3819T>C (p.Ser1273=)
c.3687T>C (p.Ser1229=)
c.3555T>C (p.Ser1185=)
20g.32436420T>GCA510467578ASXL1c.3708T>G (p.Ser1236=)
c.3525T>G (p.Ser1175=)
n.6061T>G
c.1869+1839T>G (n.1869+1839T>G)
c.3693T>G (p.Ser1231=)
c.3705T>G (p.Ser1235=)
c.3678T>G (p.Ser1226=)
c.3624T>G (p.Ser1208=)
c.3024T>G (p.Ser1008=)
c.3972T>G (p.Ser1324=)
c.3969T>G (p.Ser1323=)
c.3888T>G (p.Ser1296=)
c.3819T>G (p.Ser1273=)
c.3687T>G (p.Ser1229=)
c.3555T>G (p.Ser1185=)
20g.32436421T>ACA408563634ASXL1c.3709T>A (p.Ser1237Thr)
c.3526T>A (p.Ser1176Thr)
n.6062T>A
c.1869+1840T>A (n.1869+1840T>A)
c.3694T>A (p.Ser1232Thr)
c.3706T>A (p.Ser1236Thr)
c.3679T>A (p.Ser1227Thr)
c.3625T>A (p.Ser1209Thr)
c.3025T>A (p.Ser1009Thr)
c.3973T>A (p.Ser1325Thr)
c.3970T>A (p.Ser1324Thr)
c.3889T>A (p.Ser1297Thr)
c.3820T>A (p.Ser1274Thr)
c.3688T>A (p.Ser1230Thr)
c.3556T>A (p.Ser1186Thr)
20g.32436421T>CCA408563633ASXL1c.3709T>C (p.Ser1237Pro)
c.3526T>C (p.Ser1176Pro)
n.6062T>C
c.1869+1840T>C (n.1869+1840T>C)
c.3694T>C (p.Ser1232Pro)
c.3706T>C (p.Ser1236Pro)
c.3679T>C (p.Ser1227Pro)
c.3625T>C (p.Ser1209Pro)
c.3025T>C (p.Ser1009Pro)
c.3973T>C (p.Ser1325Pro)
c.3970T>C (p.Ser1324Pro)
c.3889T>C (p.Ser1297Pro)
c.3820T>C (p.Ser1274Pro)
c.3688T>C (p.Ser1230Pro)
c.3556T>C (p.Ser1186Pro)
 dbSNP
20g.32436421T>GCA408563632ASXL1c.3709T>G (p.Ser1237Ala)
c.3526T>G (p.Ser1176Ala)
n.6062T>G
c.1869+1840T>G (n.1869+1840T>G)
c.3694T>G (p.Ser1232Ala)
c.3706T>G (p.Ser1236Ala)
c.3679T>G (p.Ser1227Ala)
c.3625T>G (p.Ser1209Ala)
c.3025T>G (p.Ser1009Ala)
c.3973T>G (p.Ser1325Ala)
c.3970T>G (p.Ser1324Ala)
c.3889T>G (p.Ser1297Ala)
c.3820T>G (p.Ser1274Ala)
c.3688T>G (p.Ser1230Ala)
c.3556T>G (p.Ser1186Ala)
20g.32436421T=CA2360293692ASXL1c.3709T= (p.Ser1237=)
c.3526T= (p.Ser1176=)
n.6062T=
c.1869+1840T= (n.1869+1840T=)
c.3694T= (p.Ser1232=)
c.3706T= (p.Ser1236=)
c.3679T= (p.Ser1227=)
c.3625T= (p.Ser1209=)
c.3025T= (p.Ser1009=)
c.3973T= (p.Ser1325=)
c.3970T= (p.Ser1324=)
c.3889T= (p.Ser1297=)
c.3820T= (p.Ser1274=)
c.3688T= (p.Ser1230=)
c.3556T= (p.Ser1186=)
20g.32436422C>ACA408563635ASXL1c.3710C>A (p.Ser1237Tyr)
c.3527C>A (p.Ser1176Tyr)
n.6063C>A
c.1869+1841C>A (n.1869+1841C>A)
c.3695C>A (p.Ser1232Tyr)
c.3707C>A (p.Ser1236Tyr)
c.3680C>A (p.Ser1227Tyr)
c.3626C>A (p.Ser1209Tyr)
c.3026C>A (p.Ser1009Tyr)
c.3974C>A (p.Ser1325Tyr)
c.3971C>A (p.Ser1324Tyr)
c.3890C>A (p.Ser1297Tyr)
c.3821C>A (p.Ser1274Tyr)
c.3689C>A (p.Ser1230Tyr)
c.3557C>A (p.Ser1186Tyr)
20g.32436422C=CA2360293693ASXL1c.3710C= (p.Ser1237=)
c.3527C= (p.Ser1176=)
n.6063C=
c.1869+1841C= (n.1869+1841C=)
c.3695C= (p.Ser1232=)
c.3707C= (p.Ser1236=)
c.3680C= (p.Ser1227=)
c.3626C= (p.Ser1209=)
c.3026C= (p.Ser1009=)
c.3974C= (p.Ser1325=)
c.3971C= (p.Ser1324=)
c.3890C= (p.Ser1297=)
c.3821C= (p.Ser1274=)
c.3689C= (p.Ser1230=)
c.3557C= (p.Ser1186=)
20g.32436422C>GCA408563636ASXL1c.3710C>G (p.Ser1237Cys)
c.3527C>G (p.Ser1176Cys)
n.6063C>G
c.1869+1841C>G (n.1869+1841C>G)
c.3695C>G (p.Ser1232Cys)
c.3707C>G (p.Ser1236Cys)
c.3680C>G (p.Ser1227Cys)
c.3626C>G (p.Ser1209Cys)
c.3026C>G (p.Ser1009Cys)
c.3974C>G (p.Ser1325Cys)
c.3971C>G (p.Ser1324Cys)
c.3890C>G (p.Ser1297Cys)
c.3821C>G (p.Ser1274Cys)
c.3689C>G (p.Ser1230Cys)
c.3557C>G (p.Ser1186Cys)
20g.32436422C>TCA9808883ASXL1c.3710C>T (p.Ser1237Phe)
c.3527C>T (p.Ser1176Phe)
n.6063C>T
c.1869+1841C>T (n.1869+1841C>T)
c.3695C>T (p.Ser1232Phe)
c.3707C>T (p.Ser1236Phe)
c.3680C>T (p.Ser1227Phe)
c.3626C>T (p.Ser1209Phe)
c.3026C>T (p.Ser1009Phe)
c.3974C>T (p.Ser1325Phe)
c.3971C>T (p.Ser1324Phe)
c.3890C>T (p.Ser1297Phe)
c.3821C>T (p.Ser1274Phe)
c.3689C>T (p.Ser1230Phe)
c.3557C>T (p.Ser1186Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436423delCA2652401238ASXL1c.3711del (p.Phe1238LeufsTer?)
c.3528del (p.Phe1177LeufsTer?)
n.6064del
c.1869+1842del (n.1869+1842del)
c.3696del (p.Phe1233LeufsTer?)
c.3708del (p.Phe1237LeufsTer?)
c.3681del (p.Phe1228LeufsTer?)
c.3627del (p.Phe1210LeufsTer?)
c.3027del (p.Phe1010LeufsTer?)
c.3975del (p.Phe1326LeufsTer?)
c.3972del (p.Phe1325LeufsTer?)
c.3891del (p.Phe1298LeufsTer?)
c.3822del (p.Phe1275LeufsTer?)
c.3690del (p.Phe1231LeufsTer?)
c.3558del (p.Phe1187LeufsTer?)
 gnomAD v4
20g.32436423C>ACA510467582ASXL1c.3711C>A (p.Ser1237=)
c.3528C>A (p.Ser1176=)
n.6064C>A
c.1869+1842C>A (n.1869+1842C>A)
c.3696C>A (p.Ser1232=)
c.3708C>A (p.Ser1236=)
c.3681C>A (p.Ser1227=)
c.3627C>A (p.Ser1209=)
c.3027C>A (p.Ser1009=)
c.3975C>A (p.Ser1325=)
c.3972C>A (p.Ser1324=)
c.3891C>A (p.Ser1297=)
c.3822C>A (p.Ser1274=)
c.3690C>A (p.Ser1230=)
c.3558C>A (p.Ser1186=)
20g.32436423C=CA2360293694ASXL1c.3711C= (p.Ser1237=)
c.3528C= (p.Ser1176=)
n.6064C=
c.1869+1842C= (n.1869+1842C=)
c.3696C= (p.Ser1232=)
c.3708C= (p.Ser1236=)
c.3681C= (p.Ser1227=)
c.3627C= (p.Ser1209=)
c.3027C= (p.Ser1009=)
c.3975C= (p.Ser1325=)
c.3972C= (p.Ser1324=)
c.3891C= (p.Ser1297=)
c.3822C= (p.Ser1274=)
c.3690C= (p.Ser1230=)
c.3558C= (p.Ser1186=)
20g.32436423C>GCA510467583ASXL1c.3711C>G (p.Ser1237=)
c.3528C>G (p.Ser1176=)
n.6064C>G
c.1869+1842C>G (n.1869+1842C>G)
c.3696C>G (p.Ser1232=)
c.3708C>G (p.Ser1236=)
c.3681C>G (p.Ser1227=)
c.3627C>G (p.Ser1209=)
c.3027C>G (p.Ser1009=)
c.3975C>G (p.Ser1325=)
c.3972C>G (p.Ser1324=)
c.3891C>G (p.Ser1297=)
c.3822C>G (p.Ser1274=)
c.3690C>G (p.Ser1230=)
c.3558C>G (p.Ser1186=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436423C>TCA510467584ASXL1c.3711C>T (p.Ser1237=)
c.3528C>T (p.Ser1176=)
n.6064C>T
c.1869+1842C>T (n.1869+1842C>T)
c.3696C>T (p.Ser1232=)
c.3708C>T (p.Ser1236=)
c.3681C>T (p.Ser1227=)
c.3627C>T (p.Ser1209=)
c.3027C>T (p.Ser1009=)
c.3975C>T (p.Ser1325=)
c.3972C>T (p.Ser1324=)
c.3891C>T (p.Ser1297=)
c.3822C>T (p.Ser1274=)
c.3690C>T (p.Ser1230=)
c.3558C>T (p.Ser1186=)
 dbSNP
20g.32436424T>ACA408563637ASXL1c.3712T>A (p.Phe1238Ile)
c.3529T>A (p.Phe1177Ile)
n.6065T>A
c.1869+1843T>A (n.1869+1843T>A)
c.3697T>A (p.Phe1233Ile)
c.3709T>A (p.Phe1237Ile)
c.3682T>A (p.Phe1228Ile)
c.3628T>A (p.Phe1210Ile)
c.3028T>A (p.Phe1010Ile)
c.3976T>A (p.Phe1326Ile)
c.3973T>A (p.Phe1325Ile)
c.3892T>A (p.Phe1298Ile)
c.3823T>A (p.Phe1275Ile)
c.3691T>A (p.Phe1231Ile)
c.3559T>A (p.Phe1187Ile)
20g.32436424T>CCA408563638ASXL1c.3712T>C (p.Phe1238Leu)
c.3529T>C (p.Phe1177Leu)
n.6065T>C
c.1869+1843T>C (n.1869+1843T>C)
c.3697T>C (p.Phe1233Leu)
c.3709T>C (p.Phe1237Leu)
c.3682T>C (p.Phe1228Leu)
c.3628T>C (p.Phe1210Leu)
c.3028T>C (p.Phe1010Leu)
c.3976T>C (p.Phe1326Leu)
c.3973T>C (p.Phe1325Leu)
c.3892T>C (p.Phe1298Leu)
c.3823T>C (p.Phe1275Leu)
c.3691T>C (p.Phe1231Leu)
c.3559T>C (p.Phe1187Leu)
20g.32436424T>GCA408563639ASXL1c.3712T>G (p.Phe1238Val)
c.3529T>G (p.Phe1177Val)
n.6065T>G
c.1869+1843T>G (n.1869+1843T>G)
c.3697T>G (p.Phe1233Val)
c.3709T>G (p.Phe1237Val)
c.3682T>G (p.Phe1228Val)
c.3628T>G (p.Phe1210Val)
c.3028T>G (p.Phe1010Val)
c.3976T>G (p.Phe1326Val)
c.3973T>G (p.Phe1325Val)
c.3892T>G (p.Phe1298Val)
c.3823T>G (p.Phe1275Val)
c.3691T>G (p.Phe1231Val)
c.3559T>G (p.Phe1187Val)
20g.32436426delCA2842273175ASXL1c.3714del (p.Phe1238LeufsTer?)
c.3531del (p.Phe1177LeufsTer?)
n.6067del
c.1869+1845del (n.1869+1845del)
c.3699del (p.Phe1233LeufsTer?)
c.3711del (p.Phe1237LeufsTer?)
c.3684del (p.Phe1228LeufsTer?)
c.3630del (p.Phe1210LeufsTer?)
c.3030del (p.Phe1010LeufsTer?)
c.3978del (p.Phe1326LeufsTer?)
c.3975del (p.Phe1325LeufsTer?)
c.3894del (p.Phe1298LeufsTer?)
c.3825del (p.Phe1275LeufsTer?)
c.3693del (p.Phe1231LeufsTer?)
c.3561del (p.Phe1187LeufsTer?)
20g.32436425T>ACA408563640ASXL1c.3713T>A (p.Phe1238Tyr)
c.3530T>A (p.Phe1177Tyr)
n.6066T>A
c.1869+1844T>A (n.1869+1844T>A)
c.3698T>A (p.Phe1233Tyr)
c.3710T>A (p.Phe1237Tyr)
c.3683T>A (p.Phe1228Tyr)
c.3629T>A (p.Phe1210Tyr)
c.3029T>A (p.Phe1010Tyr)
c.3977T>A (p.Phe1326Tyr)
c.3974T>A (p.Phe1325Tyr)
c.3893T>A (p.Phe1298Tyr)
c.3824T>A (p.Phe1275Tyr)
c.3692T>A (p.Phe1231Tyr)
c.3560T>A (p.Phe1187Tyr)
20g.32436425T>CCA408563641ASXL1c.3713T>C (p.Phe1238Ser)
c.3530T>C (p.Phe1177Ser)
n.6066T>C
c.1869+1844T>C (n.1869+1844T>C)
c.3698T>C (p.Phe1233Ser)
c.3710T>C (p.Phe1237Ser)
c.3683T>C (p.Phe1228Ser)
c.3629T>C (p.Phe1210Ser)
c.3029T>C (p.Phe1010Ser)
c.3977T>C (p.Phe1326Ser)
c.3974T>C (p.Phe1325Ser)
c.3893T>C (p.Phe1298Ser)
c.3824T>C (p.Phe1275Ser)
c.3692T>C (p.Phe1231Ser)
c.3560T>C (p.Phe1187Ser)
20g.32436425T>GCA9808884ASXL1c.3713T>G (p.Phe1238Cys)
c.3530T>G (p.Phe1177Cys)
n.6066T>G
c.1869+1844T>G (n.1869+1844T>G)
c.3698T>G (p.Phe1233Cys)
c.3710T>G (p.Phe1237Cys)
c.3683T>G (p.Phe1228Cys)
c.3629T>G (p.Phe1210Cys)
c.3029T>G (p.Phe1010Cys)
c.3977T>G (p.Phe1326Cys)
c.3974T>G (p.Phe1325Cys)
c.3893T>G (p.Phe1298Cys)
c.3824T>G (p.Phe1275Cys)
c.3692T>G (p.Phe1231Cys)
c.3560T>G (p.Phe1187Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436425T=CA2360293695ASXL1c.3713T= (p.Phe1238=)
c.3530T= (p.Phe1177=)
n.6066T=
c.1869+1844T= (n.1869+1844T=)
c.3698T= (p.Phe1233=)
c.3710T= (p.Phe1237=)
c.3683T= (p.Phe1228=)
c.3629T= (p.Phe1210=)
c.3029T= (p.Phe1010=)
c.3977T= (p.Phe1326=)
c.3974T= (p.Phe1325=)
c.3893T= (p.Phe1298=)
c.3824T= (p.Phe1275=)
c.3692T= (p.Phe1231=)
c.3560T= (p.Phe1187=)
20g.32436426T>ACA408563642ASXL1c.3714T>A (p.Phe1238Leu)
c.3531T>A (p.Phe1177Leu)
n.6067T>A
c.1869+1845T>A (n.1869+1845T>A)
c.3699T>A (p.Phe1233Leu)
c.3711T>A (p.Phe1237Leu)
c.3684T>A (p.Phe1228Leu)
c.3630T>A (p.Phe1210Leu)
c.3030T>A (p.Phe1010Leu)
c.3978T>A (p.Phe1326Leu)
c.3975T>A (p.Phe1325Leu)
c.3894T>A (p.Phe1298Leu)
c.3825T>A (p.Phe1275Leu)
c.3693T>A (p.Phe1231Leu)
c.3561T>A (p.Phe1187Leu)
20g.32436426T>CCA510467588ASXL1c.3714T>C (p.Phe1238=)
c.3531T>C (p.Phe1177=)
n.6067T>C
c.1869+1845T>C (n.1869+1845T>C)
c.3699T>C (p.Phe1233=)
c.3711T>C (p.Phe1237=)
c.3684T>C (p.Phe1228=)
c.3630T>C (p.Phe1210=)
c.3030T>C (p.Phe1010=)
c.3978T>C (p.Phe1326=)
c.3975T>C (p.Phe1325=)
c.3894T>C (p.Phe1298=)
c.3825T>C (p.Phe1275=)
c.3693T>C (p.Phe1231=)
c.3561T>C (p.Phe1187=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436426T>GCA408563643ASXL1c.3714T>G (p.Phe1238Leu)
c.3531T>G (p.Phe1177Leu)
n.6067T>G
c.1869+1845T>G (n.1869+1845T>G)
c.3699T>G (p.Phe1233Leu)
c.3711T>G (p.Phe1237Leu)
c.3684T>G (p.Phe1228Leu)
c.3630T>G (p.Phe1210Leu)
c.3030T>G (p.Phe1010Leu)
c.3978T>G (p.Phe1326Leu)
c.3975T>G (p.Phe1325Leu)
c.3894T>G (p.Phe1298Leu)
c.3825T>G (p.Phe1275Leu)
c.3693T>G (p.Phe1231Leu)
c.3561T>G (p.Phe1187Leu)
20g.32436426T=CA2360293696ASXL1c.3714T= (p.Phe1238=)
c.3531T= (p.Phe1177=)
n.6067T=
c.1869+1845T= (n.1869+1845T=)
c.3699T= (p.Phe1233=)
c.3711T= (p.Phe1237=)
c.3684T= (p.Phe1228=)
c.3630T= (p.Phe1210=)
c.3030T= (p.Phe1010=)
c.3978T= (p.Phe1326=)
c.3975T= (p.Phe1325=)
c.3894T= (p.Phe1298=)
c.3825T= (p.Phe1275=)
c.3693T= (p.Phe1231=)
c.3561T= (p.Phe1187=)
20g.32436427A>CCA408563644ASXL1c.3715A>C (p.Ser1239Arg)
c.3532A>C (p.Ser1178Arg)
n.6068A>C
c.1869+1846A>C (n.1869+1846A>C)
c.3700A>C (p.Ser1234Arg)
c.3712A>C (p.Ser1238Arg)
c.3685A>C (p.Ser1229Arg)
c.3631A>C (p.Ser1211Arg)
c.3031A>C (p.Ser1011Arg)
c.3979A>C (p.Ser1327Arg)
c.3976A>C (p.Ser1326Arg)
c.3895A>C (p.Ser1299Arg)
c.3826A>C (p.Ser1276Arg)
c.3694A>C (p.Ser1232Arg)
c.3562A>C (p.Ser1188Arg)
20g.32436427A>GCA408563645ASXL1c.3715A>G (p.Ser1239Gly)
c.3532A>G (p.Ser1178Gly)
n.6068A>G
c.1869+1846A>G (n.1869+1846A>G)
c.3700A>G (p.Ser1234Gly)
c.3712A>G (p.Ser1238Gly)
c.3685A>G (p.Ser1229Gly)
c.3631A>G (p.Ser1211Gly)
c.3031A>G (p.Ser1011Gly)
c.3979A>G (p.Ser1327Gly)
c.3976A>G (p.Ser1326Gly)
c.3895A>G (p.Ser1299Gly)
c.3826A>G (p.Ser1276Gly)
c.3694A>G (p.Ser1232Gly)
c.3562A>G (p.Ser1188Gly)
20g.32436427A>TCA408563646ASXL1c.3715A>T (p.Ser1239Cys)
c.3532A>T (p.Ser1178Cys)
n.6068A>T
c.1869+1846A>T (n.1869+1846A>T)
c.3700A>T (p.Ser1234Cys)
c.3712A>T (p.Ser1238Cys)
c.3685A>T (p.Ser1229Cys)
c.3631A>T (p.Ser1211Cys)
c.3031A>T (p.Ser1011Cys)
c.3979A>T (p.Ser1327Cys)
c.3976A>T (p.Ser1326Cys)
c.3895A>T (p.Ser1299Cys)
c.3826A>T (p.Ser1276Cys)
c.3694A>T (p.Ser1232Cys)
c.3562A>T (p.Ser1188Cys)
20g.32436428G>ACA408563647ASXL1c.3716G>A (p.Ser1239Asn)
c.3533G>A (p.Ser1178Asn)
n.6069G>A
c.1869+1847G>A (n.1869+1847G>A)
c.3701G>A (p.Ser1234Asn)
c.3713G>A (p.Ser1238Asn)
c.3686G>A (p.Ser1229Asn)
c.3632G>A (p.Ser1211Asn)
c.3032G>A (p.Ser1011Asn)
c.3980G>A (p.Ser1327Asn)
c.3977G>A (p.Ser1326Asn)
c.3896G>A (p.Ser1299Asn)
c.3827G>A (p.Ser1276Asn)
c.3695G>A (p.Ser1232Asn)
c.3563G>A (p.Ser1188Asn)
20g.32436428G>CCA408563648ASXL1c.3716G>C (p.Ser1239Thr)
c.3533G>C (p.Ser1178Thr)
n.6069G>C
c.1869+1847G>C (n.1869+1847G>C)
c.3701G>C (p.Ser1234Thr)
c.3713G>C (p.Ser1238Thr)
c.3686G>C (p.Ser1229Thr)
c.3632G>C (p.Ser1211Thr)
c.3032G>C (p.Ser1011Thr)
c.3980G>C (p.Ser1327Thr)
c.3977G>C (p.Ser1326Thr)
c.3896G>C (p.Ser1299Thr)
c.3827G>C (p.Ser1276Thr)
c.3695G>C (p.Ser1232Thr)
c.3563G>C (p.Ser1188Thr)
20g.32436428G>TCA408563649ASXL1c.3716G>T (p.Ser1239Ile)
c.3533G>T (p.Ser1178Ile)
n.6069G>T
c.1869+1847G>T (n.1869+1847G>T)
c.3701G>T (p.Ser1234Ile)
c.3713G>T (p.Ser1238Ile)
c.3686G>T (p.Ser1229Ile)
c.3632G>T (p.Ser1211Ile)
c.3032G>T (p.Ser1011Ile)
c.3980G>T (p.Ser1327Ile)
c.3977G>T (p.Ser1326Ile)
c.3896G>T (p.Ser1299Ile)
c.3827G>T (p.Ser1276Ile)
c.3695G>T (p.Ser1232Ile)
c.3563G>T (p.Ser1188Ile)
20g.32436429T>ACA408563650ASXL1c.3717T>A (p.Ser1239Arg)
c.3534T>A (p.Ser1178Arg)
n.6070T>A
c.1869+1848T>A (n.1869+1848T>A)
c.3702T>A (p.Ser1234Arg)
c.3714T>A (p.Ser1238Arg)
c.3687T>A (p.Ser1229Arg)
c.3633T>A (p.Ser1211Arg)
c.3033T>A (p.Ser1011Arg)
c.3981T>A (p.Ser1327Arg)
c.3978T>A (p.Ser1326Arg)
c.3897T>A (p.Ser1299Arg)
c.3828T>A (p.Ser1276Arg)
c.3696T>A (p.Ser1232Arg)
c.3564T>A (p.Ser1188Arg)
20g.32436429T>CCA510467592ASXL1c.3717T>C (p.Ser1239=)
c.3534T>C (p.Ser1178=)
n.6070T>C
c.1869+1848T>C (n.1869+1848T>C)
c.3702T>C (p.Ser1234=)
c.3714T>C (p.Ser1238=)
c.3687T>C (p.Ser1229=)
c.3633T>C (p.Ser1211=)
c.3033T>C (p.Ser1011=)
c.3981T>C (p.Ser1327=)
c.3978T>C (p.Ser1326=)
c.3897T>C (p.Ser1299=)
c.3828T>C (p.Ser1276=)
c.3696T>C (p.Ser1232=)
c.3564T>C (p.Ser1188=)
 dbSNP
20g.32436429T>GCA408563651ASXL1c.3717T>G (p.Ser1239Arg)
c.3534T>G (p.Ser1178Arg)
n.6070T>G
c.1869+1848T>G (n.1869+1848T>G)
c.3702T>G (p.Ser1234Arg)
c.3714T>G (p.Ser1238Arg)
c.3687T>G (p.Ser1229Arg)
c.3633T>G (p.Ser1211Arg)
c.3033T>G (p.Ser1011Arg)
c.3981T>G (p.Ser1327Arg)
c.3978T>G (p.Ser1326Arg)
c.3897T>G (p.Ser1299Arg)
c.3828T>G (p.Ser1276Arg)
c.3696T>G (p.Ser1232Arg)
c.3564T>G (p.Ser1188Arg)
20g.32436430T>ACA408563653ASXL1c.3718T>A (p.Cys1240Ser)
c.3535T>A (p.Cys1179Ser)
n.6071T>A
c.1869+1849T>A (n.1869+1849T>A)
c.3703T>A (p.Cys1235Ser)
c.3715T>A (p.Cys1239Ser)
c.3688T>A (p.Cys1230Ser)
c.3634T>A (p.Cys1212Ser)
c.3034T>A (p.Cys1012Ser)
c.3982T>A (p.Cys1328Ser)
c.3979T>A (p.Cys1327Ser)
c.3898T>A (p.Cys1300Ser)
c.3829T>A (p.Cys1277Ser)
c.3697T>A (p.Cys1233Ser)
c.3565T>A (p.Cys1189Ser)
20g.32436430T>CCA9808885ASXL1c.3718T>C (p.Cys1240Arg)
c.3535T>C (p.Cys1179Arg)
n.6071T>C
c.1869+1849T>C (n.1869+1849T>C)
c.3703T>C (p.Cys1235Arg)
c.3715T>C (p.Cys1239Arg)
c.3688T>C (p.Cys1230Arg)
c.3634T>C (p.Cys1212Arg)
c.3034T>C (p.Cys1012Arg)
c.3982T>C (p.Cys1328Arg)
c.3979T>C (p.Cys1327Arg)
c.3898T>C (p.Cys1300Arg)
c.3829T>C (p.Cys1277Arg)
c.3697T>C (p.Cys1233Arg)
c.3565T>C (p.Cys1189Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436430T>GCA408563652ASXL1c.3718T>G (p.Cys1240Gly)
c.3535T>G (p.Cys1179Gly)
n.6071T>G
c.1869+1849T>G (n.1869+1849T>G)
c.3703T>G (p.Cys1235Gly)
c.3715T>G (p.Cys1239Gly)
c.3688T>G (p.Cys1230Gly)
c.3634T>G (p.Cys1212Gly)
c.3034T>G (p.Cys1012Gly)
c.3982T>G (p.Cys1328Gly)
c.3979T>G (p.Cys1327Gly)
c.3898T>G (p.Cys1300Gly)
c.3829T>G (p.Cys1277Gly)
c.3697T>G (p.Cys1233Gly)
c.3565T>G (p.Cys1189Gly)
20g.32436430T=CA2360293697ASXL1c.3718T= (p.Cys1240=)
c.3535T= (p.Cys1179=)
n.6071T=
c.1869+1849T= (n.1869+1849T=)
c.3703T= (p.Cys1235=)
c.3715T= (p.Cys1239=)
c.3688T= (p.Cys1230=)
c.3634T= (p.Cys1212=)
c.3034T= (p.Cys1012=)
c.3982T= (p.Cys1328=)
c.3979T= (p.Cys1327=)
c.3898T= (p.Cys1300=)
c.3829T= (p.Cys1277=)
c.3697T= (p.Cys1233=)
c.3565T= (p.Cys1189=)
20g.32436431G>ACA408563654ASXL1c.3719G>A (p.Cys1240Tyr)
c.3536G>A (p.Cys1179Tyr)
n.6072G>A
c.1869+1850G>A (n.1869+1850G>A)
c.3704G>A (p.Cys1235Tyr)
c.3716G>A (p.Cys1239Tyr)
c.3689G>A (p.Cys1230Tyr)
c.3635G>A (p.Cys1212Tyr)
c.3035G>A (p.Cys1012Tyr)
c.3983G>A (p.Cys1328Tyr)
c.3980G>A (p.Cys1327Tyr)
c.3899G>A (p.Cys1300Tyr)
c.3830G>A (p.Cys1277Tyr)
c.3698G>A (p.Cys1233Tyr)
c.3566G>A (p.Cys1189Tyr)
 dbSNP
20g.32436431G>CCA408563655ASXL1c.3719G>C (p.Cys1240Ser)
c.3536G>C (p.Cys1179Ser)
n.6072G>C
c.1869+1850G>C (n.1869+1850G>C)
c.3704G>C (p.Cys1235Ser)
c.3716G>C (p.Cys1239Ser)
c.3689G>C (p.Cys1230Ser)
c.3635G>C (p.Cys1212Ser)
c.3035G>C (p.Cys1012Ser)
c.3983G>C (p.Cys1328Ser)
c.3980G>C (p.Cys1327Ser)
c.3899G>C (p.Cys1300Ser)
c.3830G>C (p.Cys1277Ser)
c.3698G>C (p.Cys1233Ser)
c.3566G>C (p.Cys1189Ser)
20g.32436431G>TCA408563656ASXL1c.3719G>T (p.Cys1240Phe)
c.3536G>T (p.Cys1179Phe)
n.6072G>T
c.1869+1850G>T (n.1869+1850G>T)
c.3704G>T (p.Cys1235Phe)
c.3716G>T (p.Cys1239Phe)
c.3689G>T (p.Cys1230Phe)
c.3635G>T (p.Cys1212Phe)
c.3035G>T (p.Cys1012Phe)
c.3983G>T (p.Cys1328Phe)
c.3980G>T (p.Cys1327Phe)
c.3899G>T (p.Cys1300Phe)
c.3830G>T (p.Cys1277Phe)
c.3698G>T (p.Cys1233Phe)
c.3566G>T (p.Cys1189Phe)
20g.32436432T>ACA408563657ASXL1c.3720T>A (p.Cys1240Ter)
c.3537T>A (p.Cys1179Ter)
n.6073T>A
c.1869+1851T>A (n.1869+1851T>A)
c.3705T>A (p.Cys1235Ter)
c.3717T>A (p.Cys1239Ter)
c.3690T>A (p.Cys1230Ter)
c.3636T>A (p.Cys1212Ter)
c.3036T>A (p.Cys1012Ter)
c.3984T>A (p.Cys1328Ter)
c.3981T>A (p.Cys1327Ter)
c.3900T>A (p.Cys1300Ter)
c.3831T>A (p.Cys1277Ter)
c.3699T>A (p.Cys1233Ter)
c.3567T>A (p.Cys1189Ter)
20g.32436432T>CCA9808886ASXL1c.3720T>C (p.Cys1240=)
c.3537T>C (p.Cys1179=)
n.6073T>C
c.1869+1851T>C (n.1869+1851T>C)
c.3705T>C (p.Cys1235=)
c.3717T>C (p.Cys1239=)
c.3690T>C (p.Cys1230=)
c.3636T>C (p.Cys1212=)
c.3036T>C (p.Cys1012=)
c.3984T>C (p.Cys1328=)
c.3981T>C (p.Cys1327=)
c.3900T>C (p.Cys1300=)
c.3831T>C (p.Cys1277=)
c.3699T>C (p.Cys1233=)
c.3567T>C (p.Cys1189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436432T>GCA408563658ASXL1c.3720T>G (p.Cys1240Trp)
c.3537T>G (p.Cys1179Trp)
n.6073T>G
c.1869+1851T>G (n.1869+1851T>G)
c.3705T>G (p.Cys1235Trp)
c.3717T>G (p.Cys1239Trp)
c.3690T>G (p.Cys1230Trp)
c.3636T>G (p.Cys1212Trp)
c.3036T>G (p.Cys1012Trp)
c.3984T>G (p.Cys1328Trp)
c.3981T>G (p.Cys1327Trp)
c.3900T>G (p.Cys1300Trp)
c.3831T>G (p.Cys1277Trp)
c.3699T>G (p.Cys1233Trp)
c.3567T>G (p.Cys1189Trp)
20g.32436432T=CA2360293698ASXL1c.3720T= (p.Cys1240=)
c.3537T= (p.Cys1179=)
n.6073T=
c.1869+1851T= (n.1869+1851T=)
c.3705T= (p.Cys1235=)
c.3717T= (p.Cys1239=)
c.3690T= (p.Cys1230=)
c.3636T= (p.Cys1212=)
c.3036T= (p.Cys1012=)
c.3984T= (p.Cys1328=)
c.3981T= (p.Cys1327=)
c.3900T= (p.Cys1300=)
c.3831T= (p.Cys1277=)
c.3699T= (p.Cys1233=)
c.3567T= (p.Cys1189=)
20g.32436433G>ACA313926356ASXL1c.3721G>A (p.Glu1241Lys)
c.3538G>A (p.Glu1180Lys)
n.6074G>A
c.1869+1852G>A (n.1869+1852G>A)
c.3706G>A (p.Glu1236Lys)
c.3718G>A (p.Glu1240Lys)
c.3691G>A (p.Glu1231Lys)
c.3637G>A (p.Glu1213Lys)
c.3037G>A (p.Glu1013Lys)
c.3985G>A (p.Glu1329Lys)
c.3982G>A (p.Glu1328Lys)
c.3901G>A (p.Glu1301Lys)
c.3832G>A (p.Glu1278Lys)
c.3700G>A (p.Glu1234Lys)
c.3568G>A (p.Glu1190Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436433G>CCA408563659ASXL1c.3721G>C (p.Glu1241Gln)
c.3538G>C (p.Glu1180Gln)
n.6074G>C
c.1869+1852G>C (n.1869+1852G>C)
c.3706G>C (p.Glu1236Gln)
c.3718G>C (p.Glu1240Gln)
c.3691G>C (p.Glu1231Gln)
c.3637G>C (p.Glu1213Gln)
c.3037G>C (p.Glu1013Gln)
c.3985G>C (p.Glu1329Gln)
c.3982G>C (p.Glu1328Gln)
c.3901G>C (p.Glu1301Gln)
c.3832G>C (p.Glu1278Gln)
c.3700G>C (p.Glu1234Gln)
c.3568G>C (p.Glu1190Gln)
20g.32436433G=CA2360293699ASXL1c.3721G= (p.Glu1241=)
c.3538G= (p.Glu1180=)
n.6074G=
c.1869+1852G= (n.1869+1852G=)
c.3706G= (p.Glu1236=)
c.3718G= (p.Glu1240=)
c.3691G= (p.Glu1231=)
c.3637G= (p.Glu1213=)
c.3037G= (p.Glu1013=)
c.3985G= (p.Glu1329=)
c.3982G= (p.Glu1328=)
c.3901G= (p.Glu1301=)
c.3832G= (p.Glu1278=)
c.3700G= (p.Glu1234=)
c.3568G= (p.Glu1190=)
20g.32436433G>TCA408563660ASXL1c.3721G>T (p.Glu1241Ter)
c.3538G>T (p.Glu1180Ter)
n.6074G>T
c.1869+1852G>T (n.1869+1852G>T)
c.3706G>T (p.Glu1236Ter)
c.3718G>T (p.Glu1240Ter)
c.3691G>T (p.Glu1231Ter)
c.3637G>T (p.Glu1213Ter)
c.3037G>T (p.Glu1013Ter)
c.3985G>T (p.Glu1329Ter)
c.3982G>T (p.Glu1328Ter)
c.3901G>T (p.Glu1301Ter)
c.3832G>T (p.Glu1278Ter)
c.3700G>T (p.Glu1234Ter)
c.3568G>T (p.Glu1190Ter)
20g.32436434A>CCA408563661ASXL1c.3722A>C (p.Glu1241Ala)
c.3539A>C (p.Glu1180Ala)
n.6075A>C
c.1869+1853A>C (n.1869+1853A>C)
c.3707A>C (p.Glu1236Ala)
c.3719A>C (p.Glu1240Ala)
c.3692A>C (p.Glu1231Ala)
c.3638A>C (p.Glu1213Ala)
c.3038A>C (p.Glu1013Ala)
c.3986A>C (p.Glu1329Ala)
c.3983A>C (p.Glu1328Ala)
c.3902A>C (p.Glu1301Ala)
c.3833A>C (p.Glu1278Ala)
c.3701A>C (p.Glu1234Ala)
c.3569A>C (p.Glu1190Ala)
20g.32436434A>GCA408563662ASXL1c.3722A>G (p.Glu1241Gly)
c.3539A>G (p.Glu1180Gly)
n.6075A>G
c.1869+1853A>G (n.1869+1853A>G)
c.3707A>G (p.Glu1236Gly)
c.3719A>G (p.Glu1240Gly)
c.3692A>G (p.Glu1231Gly)
c.3638A>G (p.Glu1213Gly)
c.3038A>G (p.Glu1013Gly)
c.3986A>G (p.Glu1329Gly)
c.3983A>G (p.Glu1328Gly)
c.3902A>G (p.Glu1301Gly)
c.3833A>G (p.Glu1278Gly)
c.3701A>G (p.Glu1234Gly)
c.3569A>G (p.Glu1190Gly)
20g.32436434A>TCA408563663ASXL1c.3722A>T (p.Glu1241Val)
c.3539A>T (p.Glu1180Val)
n.6075A>T
c.1869+1853A>T (n.1869+1853A>T)
c.3707A>T (p.Glu1236Val)
c.3719A>T (p.Glu1240Val)
c.3692A>T (p.Glu1231Val)
c.3638A>T (p.Glu1213Val)
c.3038A>T (p.Glu1013Val)
c.3986A>T (p.Glu1329Val)
c.3983A>T (p.Glu1328Val)
c.3902A>T (p.Glu1301Val)
c.3833A>T (p.Glu1278Val)
c.3701A>T (p.Glu1234Val)
c.3569A>T (p.Glu1190Val)
 gnomAD v3 gnomAD v4
20g.32436435A>CCA408563664ASXL1c.3723A>C (p.Glu1241Asp)
c.3540A>C (p.Glu1180Asp)
n.6076A>C
c.1869+1854A>C (n.1869+1854A>C)
c.3708A>C (p.Glu1236Asp)
c.3720A>C (p.Glu1240Asp)
c.3693A>C (p.Glu1231Asp)
c.3639A>C (p.Glu1213Asp)
c.3039A>C (p.Glu1013Asp)
c.3987A>C (p.Glu1329Asp)
c.3984A>C (p.Glu1328Asp)
c.3903A>C (p.Glu1301Asp)
c.3834A>C (p.Glu1278Asp)
c.3702A>C (p.Glu1234Asp)
c.3570A>C (p.Glu1190Asp)
20g.32436435A>GCA510467597ASXL1c.3723A>G (p.Glu1241=)
c.3540A>G (p.Glu1180=)
n.6076A>G
c.1869+1854A>G (n.1869+1854A>G)
c.3708A>G (p.Glu1236=)
c.3720A>G (p.Glu1240=)
c.3693A>G (p.Glu1231=)
c.3639A>G (p.Glu1213=)
c.3039A>G (p.Glu1013=)
c.3987A>G (p.Glu1329=)
c.3984A>G (p.Glu1328=)
c.3903A>G (p.Glu1301=)
c.3834A>G (p.Glu1278=)
c.3702A>G (p.Glu1234=)
c.3570A>G (p.Glu1190=)
20g.32436435A>TCA408563665ASXL1c.3723A>T (p.Glu1241Asp)
c.3540A>T (p.Glu1180Asp)
n.6076A>T
c.1869+1854A>T (n.1869+1854A>T)
c.3708A>T (p.Glu1236Asp)
c.3720A>T (p.Glu1240Asp)
c.3693A>T (p.Glu1231Asp)
c.3639A>T (p.Glu1213Asp)
c.3039A>T (p.Glu1013Asp)
c.3987A>T (p.Glu1329Asp)
c.3984A>T (p.Glu1328Asp)
c.3903A>T (p.Glu1301Asp)
c.3834A>T (p.Glu1278Asp)
c.3702A>T (p.Glu1234Asp)
c.3570A>T (p.Glu1190Asp)
20g.32436436G>ACA408563666ASXL1c.3724G>A (p.Asp1242Asn)
c.3541G>A (p.Asp1181Asn)
n.6077G>A
c.1869+1855G>A (n.1869+1855G>A)
c.3709G>A (p.Asp1237Asn)
c.3721G>A (p.Asp1241Asn)
c.3694G>A (p.Asp1232Asn)
c.3640G>A (p.Asp1214Asn)
c.3040G>A (p.Asp1014Asn)
c.3988G>A (p.Asp1330Asn)
c.3985G>A (p.Asp1329Asn)
c.3904G>A (p.Asp1302Asn)
c.3835G>A (p.Asp1279Asn)
c.3703G>A (p.Asp1235Asn)
c.3571G>A (p.Asp1191Asn)
 dbSNP
20g.32436436G>CCA408563668ASXL1c.3724G>C (p.Asp1242His)
c.3541G>C (p.Asp1181His)
n.6077G>C
c.1869+1855G>C (n.1869+1855G>C)
c.3709G>C (p.Asp1237His)
c.3721G>C (p.Asp1241His)
c.3694G>C (p.Asp1232His)
c.3640G>C (p.Asp1214His)
c.3040G>C (p.Asp1014His)
c.3988G>C (p.Asp1330His)
c.3985G>C (p.Asp1329His)
c.3904G>C (p.Asp1302His)
c.3835G>C (p.Asp1279His)
c.3703G>C (p.Asp1235His)
c.3571G>C (p.Asp1191His)
20g.32436436G=CA2360293700ASXL1c.3724G= (p.Asp1242=)
c.3541G= (p.Asp1181=)
n.6077G=
c.1869+1855G= (n.1869+1855G=)
c.3709G= (p.Asp1237=)
c.3721G= (p.Asp1241=)
c.3694G= (p.Asp1232=)
c.3640G= (p.Asp1214=)
c.3040G= (p.Asp1014=)
c.3988G= (p.Asp1330=)
c.3985G= (p.Asp1329=)
c.3904G= (p.Asp1302=)
c.3835G= (p.Asp1279=)
c.3703G= (p.Asp1235=)
c.3571G= (p.Asp1191=)
20g.32436436G>TCA408563667ASXL1c.3724G>T (p.Asp1242Tyr)
c.3541G>T (p.Asp1181Tyr)
n.6077G>T
c.1869+1855G>T (n.1869+1855G>T)
c.3709G>T (p.Asp1237Tyr)
c.3721G>T (p.Asp1241Tyr)
c.3694G>T (p.Asp1232Tyr)
c.3640G>T (p.Asp1214Tyr)
c.3040G>T (p.Asp1014Tyr)
c.3988G>T (p.Asp1330Tyr)
c.3985G>T (p.Asp1329Tyr)
c.3904G>T (p.Asp1302Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3703G>T (p.Asp1235Tyr)
c.3571G>T (p.Asp1191Tyr)
20g.32436437A=CA2360293701ASXL1c.3725A= (p.Asp1242=)
c.3542A= (p.Asp1181=)
n.6078A=
c.1869+1856A= (n.1869+1856A=)
c.3710A= (p.Asp1237=)
c.3722A= (p.Asp1241=)
c.3695A= (p.Asp1232=)
c.3641A= (p.Asp1214=)
c.3041A= (p.Asp1014=)
c.3989A= (p.Asp1330=)
c.3986A= (p.Asp1329=)
c.3905A= (p.Asp1302=)
c.3836A= (p.Asp1279=)
c.3704A= (p.Asp1235=)
c.3572A= (p.Asp1191=)
20g.32436437A>CCA408563669ASXL1c.3725A>C (p.Asp1242Ala)
c.3542A>C (p.Asp1181Ala)
n.6078A>C
c.1869+1856A>C (n.1869+1856A>C)
c.3710A>C (p.Asp1237Ala)
c.3722A>C (p.Asp1241Ala)
c.3695A>C (p.Asp1232Ala)
c.3641A>C (p.Asp1214Ala)
c.3041A>C (p.Asp1014Ala)
c.3989A>C (p.Asp1330Ala)
c.3986A>C (p.Asp1329Ala)
c.3905A>C (p.Asp1302Ala)
c.3836A>C (p.Asp1279Ala)
c.3704A>C (p.Asp1235Ala)
c.3572A>C (p.Asp1191Ala)
20g.32436437A>GCA408563670ASXL1c.3725A>G (p.Asp1242Gly)
c.3542A>G (p.Asp1181Gly)
n.6078A>G
c.1869+1856A>G (n.1869+1856A>G)
c.3710A>G (p.Asp1237Gly)
c.3722A>G (p.Asp1241Gly)
c.3695A>G (p.Asp1232Gly)
c.3641A>G (p.Asp1214Gly)
c.3041A>G (p.Asp1014Gly)
c.3989A>G (p.Asp1330Gly)
c.3986A>G (p.Asp1329Gly)
c.3905A>G (p.Asp1302Gly)
c.3836A>G (p.Asp1279Gly)
c.3704A>G (p.Asp1235Gly)
c.3572A>G (p.Asp1191Gly)
 ClinVar dbSNP
20g.32436437A>TCA408563671ASXL1c.3725A>T (p.Asp1242Val)
c.3542A>T (p.Asp1181Val)
n.6078A>T
c.1869+1856A>T (n.1869+1856A>T)
c.3710A>T (p.Asp1237Val)
c.3722A>T (p.Asp1241Val)
c.3695A>T (p.Asp1232Val)
c.3641A>T (p.Asp1214Val)
c.3041A>T (p.Asp1014Val)
c.3989A>T (p.Asp1330Val)
c.3986A>T (p.Asp1329Val)
c.3905A>T (p.Asp1302Val)
c.3836A>T (p.Asp1279Val)
c.3704A>T (p.Asp1235Val)
c.3572A>T (p.Asp1191Val)
20g.32436438T>ACA408563672ASXL1c.3726T>A (p.Asp1242Glu)
c.3543T>A (p.Asp1181Glu)
n.6079T>A
c.1869+1857T>A (n.1869+1857T>A)
c.3711T>A (p.Asp1237Glu)
c.3723T>A (p.Asp1241Glu)
c.3696T>A (p.Asp1232Glu)
c.3642T>A (p.Asp1214Glu)
c.3042T>A (p.Asp1014Glu)
c.3990T>A (p.Asp1330Glu)
c.3987T>A (p.Asp1329Glu)
c.3906T>A (p.Asp1302Glu)
c.3837T>A (p.Asp1279Glu)
c.3705T>A (p.Asp1235Glu)
c.3573T>A (p.Asp1191Glu)
20g.32436438T>CCA510467599ASXL1c.3726T>C (p.Asp1242=)
c.3543T>C (p.Asp1181=)
n.6079T>C
c.1869+1857T>C (n.1869+1857T>C)
c.3711T>C (p.Asp1237=)
c.3723T>C (p.Asp1241=)
c.3696T>C (p.Asp1232=)
c.3642T>C (p.Asp1214=)
c.3042T>C (p.Asp1014=)
c.3990T>C (p.Asp1330=)
c.3987T>C (p.Asp1329=)
c.3906T>C (p.Asp1302=)
c.3837T>C (p.Asp1279=)
c.3705T>C (p.Asp1235=)
c.3573T>C (p.Asp1191=)
20g.32436438T>GCA408563673ASXL1c.3726T>G (p.Asp1242Glu)
c.3543T>G (p.Asp1181Glu)
n.6079T>G
c.1869+1857T>G (n.1869+1857T>G)
c.3711T>G (p.Asp1237Glu)
c.3723T>G (p.Asp1241Glu)
c.3696T>G (p.Asp1232Glu)
c.3642T>G (p.Asp1214Glu)
c.3042T>G (p.Asp1014Glu)
c.3990T>G (p.Asp1330Glu)
c.3987T>G (p.Asp1329Glu)
c.3906T>G (p.Asp1302Glu)
c.3837T>G (p.Asp1279Glu)
c.3705T>G (p.Asp1235Glu)
c.3573T>G (p.Asp1191Glu)
20g.32436439delCA2838759597ASXL1c.3727del (p.Gln1243ArgfsTer?)
c.3544del (p.Gln1182ArgfsTer?)
n.6080del
c.1869+1858del (n.1869+1858del)
c.3712del (p.Gln1238ArgfsTer?)
c.3724del (p.Gln1242ArgfsTer?)
c.3697del (p.Gln1233ArgfsTer?)
c.3643del (p.Gln1215ArgfsTer?)
c.3043del (p.Gln1015ArgfsTer?)
c.3991del (p.Gln1331ArgfsTer?)
c.3988del (p.Gln1330ArgfsTer?)
c.3907del (p.Gln1303ArgfsTer?)
c.3838del (p.Gln1280ArgfsTer?)
c.3706del (p.Gln1236ArgfsTer?)
c.3574del (p.Gln1192ArgfsTer?)
20g.32436439C>ACA408563674ASXL1c.3727C>A (p.Gln1243Lys)
c.3544C>A (p.Gln1182Lys)
n.6080C>A
c.1869+1858C>A (n.1869+1858C>A)
c.3712C>A (p.Gln1238Lys)
c.3724C>A (p.Gln1242Lys)
c.3697C>A (p.Gln1233Lys)
c.3643C>A (p.Gln1215Lys)
c.3043C>A (p.Gln1015Lys)
c.3991C>A (p.Gln1331Lys)
c.3988C>A (p.Gln1330Lys)
c.3907C>A (p.Gln1303Lys)
c.3838C>A (p.Gln1280Lys)
c.3706C>A (p.Gln1236Lys)
c.3574C>A (p.Gln1192Lys)
20g.32436439C>GCA408563675ASXL1c.3727C>G (p.Gln1243Glu)
c.3544C>G (p.Gln1182Glu)
n.6080C>G
c.1869+1858C>G (n.1869+1858C>G)
c.3712C>G (p.Gln1238Glu)
c.3724C>G (p.Gln1242Glu)
c.3697C>G (p.Gln1233Glu)
c.3643C>G (p.Gln1215Glu)
c.3043C>G (p.Gln1015Glu)
c.3991C>G (p.Gln1331Glu)
c.3988C>G (p.Gln1330Glu)
c.3907C>G (p.Gln1303Glu)
c.3838C>G (p.Gln1280Glu)
c.3706C>G (p.Gln1236Glu)
c.3574C>G (p.Gln1192Glu)
20g.32436439C>TCA408563676ASXL1c.3727C>T (p.Gln1243Ter)
c.3544C>T (p.Gln1182Ter)
n.6080C>T
c.1869+1858C>T (n.1869+1858C>T)
c.3712C>T (p.Gln1238Ter)
c.3724C>T (p.Gln1242Ter)
c.3697C>T (p.Gln1233Ter)
c.3643C>T (p.Gln1215Ter)
c.3043C>T (p.Gln1015Ter)
c.3991C>T (p.Gln1331Ter)
c.3988C>T (p.Gln1330Ter)
c.3907C>T (p.Gln1303Ter)
c.3838C>T (p.Gln1280Ter)
c.3706C>T (p.Gln1236Ter)
c.3574C>T (p.Gln1192Ter)
20g.32436440A>CCA408563677ASXL1c.3728A>C (p.Gln1243Pro)
c.3545A>C (p.Gln1182Pro)
n.6081A>C
c.1869+1859A>C (n.1869+1859A>C)
c.3713A>C (p.Gln1238Pro)
c.3725A>C (p.Gln1242Pro)
c.3698A>C (p.Gln1233Pro)
c.3644A>C (p.Gln1215Pro)
c.3044A>C (p.Gln1015Pro)
c.3992A>C (p.Gln1331Pro)
c.3989A>C (p.Gln1330Pro)
c.3908A>C (p.Gln1303Pro)
c.3839A>C (p.Gln1280Pro)
c.3707A>C (p.Gln1236Pro)
c.3575A>C (p.Gln1192Pro)
20g.32436440A>GCA408563678ASXL1c.3728A>G (p.Gln1243Arg)
c.3545A>G (p.Gln1182Arg)
n.6081A>G
c.1869+1859A>G (n.1869+1859A>G)
c.3713A>G (p.Gln1238Arg)
c.3725A>G (p.Gln1242Arg)
c.3698A>G (p.Gln1233Arg)
c.3644A>G (p.Gln1215Arg)
c.3044A>G (p.Gln1015Arg)
c.3992A>G (p.Gln1331Arg)
c.3989A>G (p.Gln1330Arg)
c.3908A>G (p.Gln1303Arg)
c.3839A>G (p.Gln1280Arg)
c.3707A>G (p.Gln1236Arg)
c.3575A>G (p.Gln1192Arg)
20g.32436440A>TCA408563679ASXL1c.3728A>T (p.Gln1243Leu)
c.3545A>T (p.Gln1182Leu)
n.6081A>T
c.1869+1859A>T (n.1869+1859A>T)
c.3713A>T (p.Gln1238Leu)
c.3725A>T (p.Gln1242Leu)
c.3698A>T (p.Gln1233Leu)
c.3644A>T (p.Gln1215Leu)
c.3044A>T (p.Gln1015Leu)
c.3992A>T (p.Gln1331Leu)
c.3989A>T (p.Gln1330Leu)
c.3908A>T (p.Gln1303Leu)
c.3839A>T (p.Gln1280Leu)
c.3707A>T (p.Gln1236Leu)
c.3575A>T (p.Gln1192Leu)
20g.32436440_32436448delCA2564321228ASXL1c.3728_3736del (p.Gln1243_Val1246delinsLeu)
c.3545_3553del (p.Gln1182_Val1185delinsLeu)
n.6081_6089del
c.1869+1859_1869+1867del (n.1869+1859_1869+1867del)
c.3713_3721del (p.Gln1238_Val1241delinsLeu)
c.3725_3733del (p.Gln1242_Val1245delinsLeu)
c.3698_3706del (p.Gln1233_Val1236delinsLeu)
c.3644_3652del (p.Gln1215_Val1218delinsLeu)
c.3044_3052del (p.Gln1015_Val1018delinsLeu)
c.3992_4000del (p.Gln1331_Val1334delinsLeu)
c.3989_3997del (p.Gln1330_Val1333delinsLeu)
c.3908_3916del (p.Gln1303_Val1306delinsLeu)
c.3839_3847del (p.Gln1280_Val1283delinsLeu)
c.3707_3715del (p.Gln1236_Val1239delinsLeu)
c.3575_3583del (p.Gln1192_Val1195delinsLeu)
20g.32436441G>ACA510467603ASXL1c.3729G>A (p.Gln1243=)
c.3546G>A (p.Gln1182=)
n.6082G>A
c.1869+1860G>A (n.1869+1860G>A)
c.3714G>A (p.Gln1238=)
c.3726G>A (p.Gln1242=)
c.3699G>A (p.Gln1233=)
c.3645G>A (p.Gln1215=)
c.3045G>A (p.Gln1015=)
c.3993G>A (p.Gln1331=)
c.3990G>A (p.Gln1330=)
c.3909G>A (p.Gln1303=)
c.3840G>A (p.Gln1280=)
c.3708G>A (p.Gln1236=)
c.3576G>A (p.Gln1192=)
20g.32436441G>CCA408563681ASXL1c.3729G>C (p.Gln1243His)
c.3546G>C (p.Gln1182His)
n.6082G>C
c.1869+1860G>C (n.1869+1860G>C)
c.3714G>C (p.Gln1238His)
c.3726G>C (p.Gln1242His)
c.3699G>C (p.Gln1233His)
c.3645G>C (p.Gln1215His)
c.3045G>C (p.Gln1015His)
c.3993G>C (p.Gln1331His)
c.3990G>C (p.Gln1330His)
c.3909G>C (p.Gln1303His)
c.3840G>C (p.Gln1280His)
c.3708G>C (p.Gln1236His)
c.3576G>C (p.Gln1192His)
 gnomAD v4
20g.32436441G>TCA408563680ASXL1c.3729G>T (p.Gln1243His)
c.3546G>T (p.Gln1182His)
n.6082G>T
c.1869+1860G>T (n.1869+1860G>T)
c.3714G>T (p.Gln1238His)
c.3726G>T (p.Gln1242His)
c.3699G>T (p.Gln1233His)
c.3645G>T (p.Gln1215His)
c.3045G>T (p.Gln1015His)
c.3993G>T (p.Gln1331His)
c.3990G>T (p.Gln1330His)
c.3909G>T (p.Gln1303His)
c.3840G>T (p.Gln1280His)
c.3708G>T (p.Gln1236His)
c.3576G>T (p.Gln1192His)
 gnomAD v4
20g.32436442A=CA2360293702ASXL1c.3730A= (p.Lys1244=)
c.3547A= (p.Lys1183=)
n.6083A=
c.1869+1861A= (n.1869+1861A=)
c.3715A= (p.Lys1239=)
c.3727A= (p.Lys1243=)
c.3700A= (p.Lys1234=)
c.3646A= (p.Lys1216=)
c.3046A= (p.Lys1016=)
c.3994A= (p.Lys1332=)
c.3991A= (p.Lys1331=)
c.3910A= (p.Lys1304=)
c.3841A= (p.Lys1281=)
c.3709A= (p.Lys1237=)
c.3577A= (p.Lys1193=)
20g.32436442A>CCA408563682ASXL1c.3730A>C (p.Lys1244Gln)
c.3547A>C (p.Lys1183Gln)
n.6083A>C
c.1869+1861A>C (n.1869+1861A>C)
c.3715A>C (p.Lys1239Gln)
c.3727A>C (p.Lys1243Gln)
c.3700A>C (p.Lys1234Gln)
c.3646A>C (p.Lys1216Gln)
c.3046A>C (p.Lys1016Gln)
c.3994A>C (p.Lys1332Gln)
c.3991A>C (p.Lys1331Gln)
c.3910A>C (p.Lys1304Gln)
c.3841A>C (p.Lys1281Gln)
c.3709A>C (p.Lys1237Gln)
c.3577A>C (p.Lys1193Gln)
20g.32436442A>GCA9808887ASXL1c.3730A>G (p.Lys1244Glu)
c.3547A>G (p.Lys1183Glu)
n.6083A>G
c.1869+1861A>G (n.1869+1861A>G)
c.3715A>G (p.Lys1239Glu)
c.3727A>G (p.Lys1243Glu)
c.3700A>G (p.Lys1234Glu)
c.3646A>G (p.Lys1216Glu)
c.3046A>G (p.Lys1016Glu)
c.3994A>G (p.Lys1332Glu)
c.3991A>G (p.Lys1331Glu)
c.3910A>G (p.Lys1304Glu)
c.3841A>G (p.Lys1281Glu)
c.3709A>G (p.Lys1237Glu)
c.3577A>G (p.Lys1193Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436442A>TCA408563683ASXL1c.3730A>T (p.Lys1244Ter)
c.3547A>T (p.Lys1183Ter)
n.6083A>T
c.1869+1861A>T (n.1869+1861A>T)
c.3715A>T (p.Lys1239Ter)
c.3727A>T (p.Lys1243Ter)
c.3700A>T (p.Lys1234Ter)
c.3646A>T (p.Lys1216Ter)
c.3046A>T (p.Lys1016Ter)
c.3994A>T (p.Lys1332Ter)
c.3991A>T (p.Lys1331Ter)
c.3910A>T (p.Lys1304Ter)
c.3841A>T (p.Lys1281Ter)
c.3709A>T (p.Lys1237Ter)
c.3577A>T (p.Lys1193Ter)
20g.32436443A>CCA408563684ASXL1c.3731A>C (p.Lys1244Thr)
c.3548A>C (p.Lys1183Thr)
n.6084A>C
c.1869+1862A>C (n.1869+1862A>C)
c.3716A>C (p.Lys1239Thr)
c.3728A>C (p.Lys1243Thr)
c.3701A>C (p.Lys1234Thr)
c.3647A>C (p.Lys1216Thr)
c.3047A>C (p.Lys1016Thr)
c.3995A>C (p.Lys1332Thr)
c.3992A>C (p.Lys1331Thr)
c.3911A>C (p.Lys1304Thr)
c.3842A>C (p.Lys1281Thr)
c.3710A>C (p.Lys1237Thr)
c.3578A>C (p.Lys1193Thr)
20g.32436443A>GCA408563685ASXL1c.3731A>G (p.Lys1244Arg)
c.3548A>G (p.Lys1183Arg)
n.6084A>G
c.1869+1862A>G (n.1869+1862A>G)
c.3716A>G (p.Lys1239Arg)
c.3728A>G (p.Lys1243Arg)
c.3701A>G (p.Lys1234Arg)
c.3647A>G (p.Lys1216Arg)
c.3047A>G (p.Lys1016Arg)
c.3995A>G (p.Lys1332Arg)
c.3992A>G (p.Lys1331Arg)
c.3911A>G (p.Lys1304Arg)
c.3842A>G (p.Lys1281Arg)
c.3710A>G (p.Lys1237Arg)
c.3578A>G (p.Lys1193Arg)
20g.32436443A>TCA408563686ASXL1c.3731A>T (p.Lys1244Met)
c.3548A>T (p.Lys1183Met)
n.6084A>T
c.1869+1862A>T (n.1869+1862A>T)
c.3716A>T (p.Lys1239Met)
c.3728A>T (p.Lys1243Met)
c.3701A>T (p.Lys1234Met)
c.3647A>T (p.Lys1216Met)
c.3047A>T (p.Lys1016Met)
c.3995A>T (p.Lys1332Met)
c.3992A>T (p.Lys1331Met)
c.3911A>T (p.Lys1304Met)
c.3842A>T (p.Lys1281Met)
c.3710A>T (p.Lys1237Met)
c.3578A>T (p.Lys1193Met)
20g.32436444G>ACA313926357ASXL1c.3732G>A (p.Lys1244=)
c.3549G>A (p.Lys1183=)
n.6085G>A
c.1869+1863G>A (n.1869+1863G>A)
c.3717G>A (p.Lys1239=)
c.3729G>A (p.Lys1243=)
c.3702G>A (p.Lys1234=)
c.3648G>A (p.Lys1216=)
c.3048G>A (p.Lys1016=)
c.3996G>A (p.Lys1332=)
c.3993G>A (p.Lys1331=)
c.3912G>A (p.Lys1304=)
c.3843G>A (p.Lys1281=)
c.3711G>A (p.Lys1237=)
c.3579G>A (p.Lys1193=)
 dbSNP gnomAD v4
20g.32436444G>CCA408563687ASXL1c.3732G>C (p.Lys1244Asn)
c.3549G>C (p.Lys1183Asn)
n.6085G>C
c.1869+1863G>C (n.1869+1863G>C)
c.3717G>C (p.Lys1239Asn)
c.3729G>C (p.Lys1243Asn)
c.3702G>C (p.Lys1234Asn)
c.3648G>C (p.Lys1216Asn)
c.3048G>C (p.Lys1016Asn)
c.3996G>C (p.Lys1332Asn)
c.3993G>C (p.Lys1331Asn)
c.3912G>C (p.Lys1304Asn)
c.3843G>C (p.Lys1281Asn)
c.3711G>C (p.Lys1237Asn)
c.3579G>C (p.Lys1193Asn)
20g.32436444G=CA2360293703ASXL1c.3732G= (p.Lys1244=)
c.3549G= (p.Lys1183=)
n.6085G=
c.1869+1863G= (n.1869+1863G=)
c.3717G= (p.Lys1239=)
c.3729G= (p.Lys1243=)
c.3702G= (p.Lys1234=)
c.3648G= (p.Lys1216=)
c.3048G= (p.Lys1016=)
c.3996G= (p.Lys1332=)
c.3993G= (p.Lys1331=)
c.3912G= (p.Lys1304=)
c.3843G= (p.Lys1281=)
c.3711G= (p.Lys1237=)
c.3579G= (p.Lys1193=)
20g.32436444G>TCA408563688ASXL1c.3732G>T (p.Lys1244Asn)
c.3549G>T (p.Lys1183Asn)
n.6085G>T
c.1869+1863G>T (n.1869+1863G>T)
c.3717G>T (p.Lys1239Asn)
c.3729G>T (p.Lys1243Asn)
c.3702G>T (p.Lys1234Asn)
c.3648G>T (p.Lys1216Asn)
c.3048G>T (p.Lys1016Asn)
c.3996G>T (p.Lys1332Asn)
c.3993G>T (p.Lys1331Asn)
c.3912G>T (p.Lys1304Asn)
c.3843G>T (p.Lys1281Asn)
c.3711G>T (p.Lys1237Asn)
c.3579G>T (p.Lys1193Asn)
20g.32436445G>ACA408563689ASXL1c.3733G>A (p.Glu1245Lys)
c.3550G>A (p.Glu1184Lys)
n.6086G>A
c.1869+1864G>A (n.1869+1864G>A)
c.3718G>A (p.Glu1240Lys)
c.3730G>A (p.Glu1244Lys)
c.3703G>A (p.Glu1235Lys)
c.3649G>A (p.Glu1217Lys)
c.3049G>A (p.Glu1017Lys)
c.3997G>A (p.Glu1333Lys)
c.3994G>A (p.Glu1332Lys)
c.3913G>A (p.Glu1305Lys)
c.3844G>A (p.Glu1282Lys)
c.3712G>A (p.Glu1238Lys)
c.3580G>A (p.Glu1194Lys)
20g.32436445G>CCA408563690ASXL1c.3733G>C (p.Glu1245Gln)
c.3550G>C (p.Glu1184Gln)
n.6086G>C
c.1869+1864G>C (n.1869+1864G>C)
c.3718G>C (p.Glu1240Gln)
c.3730G>C (p.Glu1244Gln)
c.3703G>C (p.Glu1235Gln)
c.3649G>C (p.Glu1217Gln)
c.3049G>C (p.Glu1017Gln)
c.3997G>C (p.Glu1333Gln)
c.3994G>C (p.Glu1332Gln)
c.3913G>C (p.Glu1305Gln)
c.3844G>C (p.Glu1282Gln)
c.3712G>C (p.Glu1238Gln)
c.3580G>C (p.Glu1194Gln)
 dbSNP
20g.32436445G>TCA408563691ASXL1c.3733G>T (p.Glu1245Ter)
c.3550G>T (p.Glu1184Ter)
n.6086G>T
c.1869+1864G>T (n.1869+1864G>T)
c.3718G>T (p.Glu1240Ter)
c.3730G>T (p.Glu1244Ter)
c.3703G>T (p.Glu1235Ter)
c.3649G>T (p.Glu1217Ter)
c.3049G>T (p.Glu1017Ter)
c.3997G>T (p.Glu1333Ter)
c.3994G>T (p.Glu1332Ter)
c.3913G>T (p.Glu1305Ter)
c.3844G>T (p.Glu1282Ter)
c.3712G>T (p.Glu1238Ter)
c.3580G>T (p.Glu1194Ter)
20g.32436446A>CCA408563692ASXL1c.3734A>C (p.Glu1245Ala)
c.3551A>C (p.Glu1184Ala)
n.6087A>C
c.1869+1865A>C (n.1869+1865A>C)
c.3719A>C (p.Glu1240Ala)
c.3731A>C (p.Glu1244Ala)
c.3704A>C (p.Glu1235Ala)
c.3650A>C (p.Glu1217Ala)
c.3050A>C (p.Glu1017Ala)
c.3998A>C (p.Glu1333Ala)
c.3995A>C (p.Glu1332Ala)
c.3914A>C (p.Glu1305Ala)
c.3845A>C (p.Glu1282Ala)
c.3713A>C (p.Glu1238Ala)
c.3581A>C (p.Glu1194Ala)
20g.32436446A>GCA408563693ASXL1c.3734A>G (p.Glu1245Gly)
c.3551A>G (p.Glu1184Gly)
n.6087A>G
c.1869+1865A>G (n.1869+1865A>G)
c.3719A>G (p.Glu1240Gly)
c.3731A>G (p.Glu1244Gly)
c.3704A>G (p.Glu1235Gly)
c.3650A>G (p.Glu1217Gly)
c.3050A>G (p.Glu1017Gly)
c.3998A>G (p.Glu1333Gly)
c.3995A>G (p.Glu1332Gly)
c.3914A>G (p.Glu1305Gly)
c.3845A>G (p.Glu1282Gly)
c.3713A>G (p.Glu1238Gly)
c.3581A>G (p.Glu1194Gly)
20g.32436446A>TCA408563694ASXL1c.3734A>T (p.Glu1245Val)
c.3551A>T (p.Glu1184Val)
n.6087A>T
c.1869+1865A>T (n.1869+1865A>T)
c.3719A>T (p.Glu1240Val)
c.3731A>T (p.Glu1244Val)
c.3704A>T (p.Glu1235Val)
c.3650A>T (p.Glu1217Val)
c.3050A>T (p.Glu1017Val)
c.3998A>T (p.Glu1333Val)
c.3995A>T (p.Glu1332Val)
c.3914A>T (p.Glu1305Val)
c.3845A>T (p.Glu1282Val)
c.3713A>T (p.Glu1238Val)
c.3581A>T (p.Glu1194Val)
20g.32436447A>CCA408563696ASXL1c.3735A>C (p.Glu1245Asp)
c.3552A>C (p.Glu1184Asp)
n.6088A>C
c.1869+1866A>C (n.1869+1866A>C)
c.3720A>C (p.Glu1240Asp)
c.3732A>C (p.Glu1244Asp)
c.3705A>C (p.Glu1235Asp)
c.3651A>C (p.Glu1217Asp)
c.3051A>C (p.Glu1017Asp)
c.3999A>C (p.Glu1333Asp)
c.3996A>C (p.Glu1332Asp)
c.3915A>C (p.Glu1305Asp)
c.3846A>C (p.Glu1282Asp)
c.3714A>C (p.Glu1238Asp)
c.3582A>C (p.Glu1194Asp)
 gnomAD v4
20g.32436447A>GCA510467607ASXL1c.3735A>G (p.Glu1245=)
c.3552A>G (p.Glu1184=)
n.6088A>G
c.1869+1866A>G (n.1869+1866A>G)
c.3720A>G (p.Glu1240=)
c.3732A>G (p.Glu1244=)
c.3705A>G (p.Glu1235=)
c.3651A>G (p.Glu1217=)
c.3051A>G (p.Glu1017=)
c.3999A>G (p.Glu1333=)
c.3996A>G (p.Glu1332=)
c.3915A>G (p.Glu1305=)
c.3846A>G (p.Glu1282=)
c.3714A>G (p.Glu1238=)
c.3582A>G (p.Glu1194=)
 gnomAD v4
20g.32436447A>TCA408563695ASXL1c.3735A>T (p.Glu1245Asp)
c.3552A>T (p.Glu1184Asp)
n.6088A>T
c.1869+1866A>T (n.1869+1866A>T)
c.3720A>T (p.Glu1240Asp)
c.3732A>T (p.Glu1244Asp)
c.3705A>T (p.Glu1235Asp)
c.3651A>T (p.Glu1217Asp)
c.3051A>T (p.Glu1017Asp)
c.3999A>T (p.Glu1333Asp)
c.3996A>T (p.Glu1332Asp)
c.3915A>T (p.Glu1305Asp)
c.3846A>T (p.Glu1282Asp)
c.3714A>T (p.Glu1238Asp)
c.3582A>T (p.Glu1194Asp)
20g.32436448G>ACA408563697ASXL1c.3736G>A (p.Val1246Ile)
c.3553G>A (p.Val1185Ile)
n.6089G>A
c.1869+1867G>A (n.1869+1867G>A)
c.3721G>A (p.Val1241Ile)
c.3733G>A (p.Val1245Ile)
c.3706G>A (p.Val1236Ile)
c.3652G>A (p.Val1218Ile)
c.3052G>A (p.Val1018Ile)
c.4000G>A (p.Val1334Ile)
c.3997G>A (p.Val1333Ile)
c.3916G>A (p.Val1306Ile)
c.3847G>A (p.Val1283Ile)
c.3715G>A (p.Val1239Ile)
c.3583G>A (p.Val1195Ile)
20g.32436448G>CCA408563698ASXL1c.3736G>C (p.Val1246Leu)
c.3553G>C (p.Val1185Leu)
n.6089G>C
c.1869+1867G>C (n.1869+1867G>C)
c.3721G>C (p.Val1241Leu)
c.3733G>C (p.Val1245Leu)
c.3706G>C (p.Val1236Leu)
c.3652G>C (p.Val1218Leu)
c.3052G>C (p.Val1018Leu)
c.4000G>C (p.Val1334Leu)
c.3997G>C (p.Val1333Leu)
c.3916G>C (p.Val1306Leu)
c.3847G>C (p.Val1283Leu)
c.3715G>C (p.Val1239Leu)
c.3583G>C (p.Val1195Leu)
20g.32436448G>TCA408563699ASXL1c.3736G>T (p.Val1246Phe)
c.3553G>T (p.Val1185Phe)
n.6089G>T
c.1869+1867G>T (n.1869+1867G>T)
c.3721G>T (p.Val1241Phe)
c.3733G>T (p.Val1245Phe)
c.3706G>T (p.Val1236Phe)
c.3652G>T (p.Val1218Phe)
c.3052G>T (p.Val1018Phe)
c.4000G>T (p.Val1334Phe)
c.3997G>T (p.Val1333Phe)
c.3916G>T (p.Val1306Phe)
c.3847G>T (p.Val1283Phe)
c.3715G>T (p.Val1239Phe)
c.3583G>T (p.Val1195Phe)
20g.32436449T>ACA408563700ASXL1c.3737T>A (p.Val1246Asp)
c.3554T>A (p.Val1185Asp)
n.6090T>A
c.1869+1868T>A (n.1869+1868T>A)
c.3722T>A (p.Val1241Asp)
c.3734T>A (p.Val1245Asp)
c.3707T>A (p.Val1236Asp)
c.3653T>A (p.Val1218Asp)
c.3053T>A (p.Val1018Asp)
c.4001T>A (p.Val1334Asp)
c.3998T>A (p.Val1333Asp)
c.3917T>A (p.Val1306Asp)
c.3848T>A (p.Val1283Asp)
c.3716T>A (p.Val1239Asp)
c.3584T>A (p.Val1195Asp)
 COSMIC
20g.32436449T>CCA408563701ASXL1c.3737T>C (p.Val1246Ala)
c.3554T>C (p.Val1185Ala)
n.6090T>C
c.1869+1868T>C (n.1869+1868T>C)
c.3722T>C (p.Val1241Ala)
c.3734T>C (p.Val1245Ala)
c.3707T>C (p.Val1236Ala)
c.3653T>C (p.Val1218Ala)
c.3053T>C (p.Val1018Ala)
c.4001T>C (p.Val1334Ala)
c.3998T>C (p.Val1333Ala)
c.3917T>C (p.Val1306Ala)
c.3848T>C (p.Val1283Ala)
c.3716T>C (p.Val1239Ala)
c.3584T>C (p.Val1195Ala)
20g.32436449T>GCA408563702ASXL1c.3737T>G (p.Val1246Gly)
c.3554T>G (p.Val1185Gly)
n.6090T>G
c.1869+1868T>G (n.1869+1868T>G)
c.3722T>G (p.Val1241Gly)
c.3734T>G (p.Val1245Gly)
c.3707T>G (p.Val1236Gly)
c.3653T>G (p.Val1218Gly)
c.3053T>G (p.Val1018Gly)
c.4001T>G (p.Val1334Gly)
c.3998T>G (p.Val1333Gly)
c.3917T>G (p.Val1306Gly)
c.3848T>G (p.Val1283Gly)
c.3716T>G (p.Val1239Gly)
c.3584T>G (p.Val1195Gly)
20g.32436450C>ACA510467612ASXL1c.3738C>A (p.Val1246=)
c.3555C>A (p.Val1185=)
n.6091C>A
c.1869+1869C>A (n.1869+1869C>A)
c.3723C>A (p.Val1241=)
c.3735C>A (p.Val1245=)
c.3708C>A (p.Val1236=)
c.3654C>A (p.Val1218=)
c.3054C>A (p.Val1018=)
c.4002C>A (p.Val1334=)
c.3999C>A (p.Val1333=)
c.3918C>A (p.Val1306=)
c.3849C>A (p.Val1283=)
c.3717C>A (p.Val1239=)
c.3585C>A (p.Val1195=)
 dbSNP
20g.32436450C=CA2360293704ASXL1c.3738C= (p.Val1246=)
c.3555C= (p.Val1185=)
n.6091C=
c.1869+1869C= (n.1869+1869C=)
c.3723C= (p.Val1241=)
c.3735C= (p.Val1245=)
c.3708C= (p.Val1236=)
c.3654C= (p.Val1218=)
c.3054C= (p.Val1018=)
c.4002C= (p.Val1334=)
c.3999C= (p.Val1333=)
c.3918C= (p.Val1306=)
c.3849C= (p.Val1283=)
c.3717C= (p.Val1239=)
c.3585C= (p.Val1195=)
20g.32436450C>GCA510467613ASXL1c.3738C>G (p.Val1246=)
c.3555C>G (p.Val1185=)
n.6091C>G
c.1869+1869C>G (n.1869+1869C>G)
c.3723C>G (p.Val1241=)
c.3735C>G (p.Val1245=)
c.3708C>G (p.Val1236=)
c.3654C>G (p.Val1218=)
c.3054C>G (p.Val1018=)
c.4002C>G (p.Val1334=)
c.3999C>G (p.Val1333=)
c.3918C>G (p.Val1306=)
c.3849C>G (p.Val1283=)
c.3717C>G (p.Val1239=)
c.3585C>G (p.Val1195=)
 dbSNP gnomAD v2
20g.32436450C>TCA510467614ASXL1c.3738C>T (p.Val1246=)
c.3555C>T (p.Val1185=)
n.6091C>T
c.1869+1869C>T (n.1869+1869C>T)
c.3723C>T (p.Val1241=)
c.3735C>T (p.Val1245=)
c.3708C>T (p.Val1236=)
c.3654C>T (p.Val1218=)
c.3054C>T (p.Val1018=)
c.4002C>T (p.Val1334=)
c.3999C>T (p.Val1333=)
c.3918C>T (p.Val1306=)
c.3849C>T (p.Val1283=)
c.3717C>T (p.Val1239=)
c.3585C>T (p.Val1195=)
 COSMIC COSMIC
20g.32436451C>ACA408563703ASXL1c.3739C>A (p.Arg1247Ser)
c.3556C>A (p.Arg1186Ser)
n.6092C>A
c.1869+1870C>A (n.1869+1870C>A)
c.3724C>A (p.Arg1242Ser)
c.3736C>A (p.Arg1246Ser)
c.3709C>A (p.Arg1237Ser)
c.3655C>A (p.Arg1219Ser)
c.3055C>A (p.Arg1019Ser)
c.4003C>A (p.Arg1335Ser)
c.4000C>A (p.Arg1334Ser)
c.3919C>A (p.Arg1307Ser)
c.3850C>A (p.Arg1284Ser)
c.3718C>A (p.Arg1240Ser)
c.3586C>A (p.Arg1196Ser)
 dbSNP
20g.32436451C=CA2360293705ASXL1c.3739C= (p.Arg1247=)
c.3556C= (p.Arg1186=)
n.6092C=
c.1869+1870C= (n.1869+1870C=)
c.3724C= (p.Arg1242=)
c.3736C= (p.Arg1246=)
c.3709C= (p.Arg1237=)
c.3655C= (p.Arg1219=)
c.3055C= (p.Arg1019=)
c.4003C= (p.Arg1335=)
c.4000C= (p.Arg1334=)
c.3919C= (p.Arg1307=)
c.3850C= (p.Arg1284=)
c.3718C= (p.Arg1240=)
c.3586C= (p.Arg1196=)
20g.32436451C>GCA408563704ASXL1c.3739C>G (p.Arg1247Gly)
c.3556C>G (p.Arg1186Gly)
n.6092C>G
c.1869+1870C>G (n.1869+1870C>G)
c.3724C>G (p.Arg1242Gly)
c.3736C>G (p.Arg1246Gly)
c.3709C>G (p.Arg1237Gly)
c.3655C>G (p.Arg1219Gly)
c.3055C>G (p.Arg1019Gly)
c.4003C>G (p.Arg1335Gly)
c.4000C>G (p.Arg1334Gly)
c.3919C>G (p.Arg1307Gly)
c.3850C>G (p.Arg1284Gly)
c.3718C>G (p.Arg1240Gly)
c.3586C>G (p.Arg1196Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.32436451C>TCA9808888ASXL1c.3739C>T (p.Arg1247Cys)
c.3556C>T (p.Arg1186Cys)
n.6092C>T
c.1869+1870C>T (n.1869+1870C>T)
c.3724C>T (p.Arg1242Cys)
c.3736C>T (p.Arg1246Cys)
c.3709C>T (p.Arg1237Cys)
c.3655C>T (p.Arg1219Cys)
c.3055C>T (p.Arg1019Cys)
c.4003C>T (p.Arg1335Cys)
c.4000C>T (p.Arg1334Cys)
c.3919C>T (p.Arg1307Cys)
c.3850C>T (p.Arg1284Cys)
c.3718C>T (p.Arg1240Cys)
c.3586C>T (p.Arg1196Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436452G>ACA9808889ASXL1c.3740G>A (p.Arg1247His)
c.3557G>A (p.Arg1186His)
n.6093G>A
c.1869+1871G>A (n.1869+1871G>A)
c.3725G>A (p.Arg1242His)
c.3737G>A (p.Arg1246His)
c.3710G>A (p.Arg1237His)
c.3656G>A (p.Arg1219His)
c.3056G>A (p.Arg1019His)
c.4004G>A (p.Arg1335His)
c.4001G>A (p.Arg1334His)
c.3920G>A (p.Arg1307His)
c.3851G>A (p.Arg1284His)
c.3719G>A (p.Arg1240His)
c.3587G>A (p.Arg1196His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436452G>CCA408563705ASXL1c.3740G>C (p.Arg1247Pro)
c.3557G>C (p.Arg1186Pro)
n.6093G>C
c.1869+1871G>C (n.1869+1871G>C)
c.3725G>C (p.Arg1242Pro)
c.3737G>C (p.Arg1246Pro)
c.3710G>C (p.Arg1237Pro)
c.3656G>C (p.Arg1219Pro)
c.3056G>C (p.Arg1019Pro)
c.4004G>C (p.Arg1335Pro)
c.4001G>C (p.Arg1334Pro)
c.3920G>C (p.Arg1307Pro)
c.3851G>C (p.Arg1284Pro)
c.3719G>C (p.Arg1240Pro)
c.3587G>C (p.Arg1196Pro)
20g.32436452G=CA2360293706ASXL1c.3740G= (p.Arg1247=)
c.3557G= (p.Arg1186=)
n.6093G=
c.1869+1871G= (n.1869+1871G=)
c.3725G= (p.Arg1242=)
c.3737G= (p.Arg1246=)
c.3710G= (p.Arg1237=)
c.3656G= (p.Arg1219=)
c.3056G= (p.Arg1019=)
c.4004G= (p.Arg1335=)
c.4001G= (p.Arg1334=)
c.3920G= (p.Arg1307=)
c.3851G= (p.Arg1284=)
c.3719G= (p.Arg1240=)
c.3587G= (p.Arg1196=)
20g.32436452G>TCA408563706ASXL1c.3740G>T (p.Arg1247Leu)
c.3557G>T (p.Arg1186Leu)
n.6093G>T
c.1869+1871G>T (n.1869+1871G>T)
c.3725G>T (p.Arg1242Leu)
c.3737G>T (p.Arg1246Leu)
c.3710G>T (p.Arg1237Leu)
c.3656G>T (p.Arg1219Leu)
c.3056G>T (p.Arg1019Leu)
c.4004G>T (p.Arg1335Leu)
c.4001G>T (p.Arg1334Leu)
c.3920G>T (p.Arg1307Leu)
c.3851G>T (p.Arg1284Leu)
c.3719G>T (p.Arg1240Leu)
c.3587G>T (p.Arg1196Leu)
 dbSNP
20g.32436452dupCA2652401239ASXL1c.3740dup (p.Ala1248CysfsTer7)
c.3557dup (p.Ala1187CysfsTer7)
n.6093dup
c.1869+1871dup (n.1869+1871dup)
c.3725dup (p.Ala1243CysfsTer7)
c.3737dup (p.Ala1247CysfsTer7)
c.3710dup (p.Ala1238CysfsTer7)
c.3656dup (p.Ala1220CysfsTer7)
c.3056dup (p.Ala1020CysfsTer7)
c.4004dup (p.Ala1336CysfsTer7)
c.4001dup (p.Ala1335CysfsTer7)
c.3920dup (p.Ala1308CysfsTer7)
c.3851dup (p.Ala1285CysfsTer7)
c.3719dup (p.Ala1241CysfsTer7)
c.3587dup (p.Ala1197CysfsTer7)
 gnomAD v4
20g.32436453T>ACA510467619ASXL1c.3741T>A (p.Arg1247=)
c.3558T>A (p.Arg1186=)
n.6094T>A
c.1869+1872T>A (n.1869+1872T>A)
c.3726T>A (p.Arg1242=)
c.3738T>A (p.Arg1246=)
c.3711T>A (p.Arg1237=)
c.3657T>A (p.Arg1219=)
c.3057T>A (p.Arg1019=)
c.4005T>A (p.Arg1335=)
c.4002T>A (p.Arg1334=)
c.3921T>A (p.Arg1307=)
c.3852T>A (p.Arg1284=)
c.3720T>A (p.Arg1240=)
c.3588T>A (p.Arg1196=)
20g.32436453T>CCA510467620ASXL1c.3741T>C (p.Arg1247=)
c.3558T>C (p.Arg1186=)
n.6094T>C
c.1869+1872T>C (n.1869+1872T>C)
c.3726T>C (p.Arg1242=)
c.3738T>C (p.Arg1246=)
c.3711T>C (p.Arg1237=)
c.3657T>C (p.Arg1219=)
c.3057T>C (p.Arg1019=)
c.4005T>C (p.Arg1335=)
c.4002T>C (p.Arg1334=)
c.3921T>C (p.Arg1307=)
c.3852T>C (p.Arg1284=)
c.3720T>C (p.Arg1240=)
c.3588T>C (p.Arg1196=)
20g.32436453T>GCA510467621ASXL1c.3741T>G (p.Arg1247=)
c.3558T>G (p.Arg1186=)
n.6094T>G
c.1869+1872T>G (n.1869+1872T>G)
c.3726T>G (p.Arg1242=)
c.3738T>G (p.Arg1246=)
c.3711T>G (p.Arg1237=)
c.3657T>G (p.Arg1219=)
c.3057T>G (p.Arg1019=)
c.4005T>G (p.Arg1335=)
c.4002T>G (p.Arg1334=)
c.3921T>G (p.Arg1307=)
c.3852T>G (p.Arg1284=)
c.3720T>G (p.Arg1240=)
c.3588T>G (p.Arg1196=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436453T=CA2360293707ASXL1c.3741T= (p.Arg1247=)
c.3558T= (p.Arg1186=)
n.6094T=
c.1869+1872T= (n.1869+1872T=)
c.3726T= (p.Arg1242=)
c.3738T= (p.Arg1246=)
c.3711T= (p.Arg1237=)
c.3657T= (p.Arg1219=)
c.3057T= (p.Arg1019=)
c.4005T= (p.Arg1335=)
c.4002T= (p.Arg1334=)
c.3921T= (p.Arg1307=)
c.3852T= (p.Arg1284=)
c.3720T= (p.Arg1240=)
c.3588T= (p.Arg1196=)
20g.32436454G>ACA408563708ASXL1c.3742G>A (p.Ala1248Thr)
c.3559G>A (p.Ala1187Thr)
n.6095G>A
c.1869+1873G>A (n.1869+1873G>A)
c.3727G>A (p.Ala1243Thr)
c.3739G>A (p.Ala1247Thr)
c.3712G>A (p.Ala1238Thr)
c.3658G>A (p.Ala1220Thr)
c.3058G>A (p.Ala1020Thr)
c.4006G>A (p.Ala1336Thr)
c.4003G>A (p.Ala1335Thr)
c.3922G>A (p.Ala1308Thr)
c.3853G>A (p.Ala1285Thr)
c.3721G>A (p.Ala1241Thr)
c.3589G>A (p.Ala1197Thr)
 dbSNP gnomAD v3 gnomAD v4
20g.32436454G>CCA408563709ASXL1c.3742G>C (p.Ala1248Pro)
c.3559G>C (p.Ala1187Pro)
n.6095G>C
c.1869+1873G>C (n.1869+1873G>C)
c.3727G>C (p.Ala1243Pro)
c.3739G>C (p.Ala1247Pro)
c.3712G>C (p.Ala1238Pro)
c.3658G>C (p.Ala1220Pro)
c.3058G>C (p.Ala1020Pro)
c.4006G>C (p.Ala1336Pro)
c.4003G>C (p.Ala1335Pro)
c.3922G>C (p.Ala1308Pro)
c.3853G>C (p.Ala1285Pro)
c.3721G>C (p.Ala1241Pro)
c.3589G>C (p.Ala1197Pro)
20g.32436454G=CA2360293708ASXL1c.3742G= (p.Ala1248=)
c.3559G= (p.Ala1187=)
n.6095G=
c.1869+1873G= (n.1869+1873G=)
c.3727G= (p.Ala1243=)
c.3739G= (p.Ala1247=)
c.3712G= (p.Ala1238=)
c.3658G= (p.Ala1220=)
c.3058G= (p.Ala1020=)
c.4006G= (p.Ala1336=)
c.4003G= (p.Ala1335=)
c.3922G= (p.Ala1308=)
c.3853G= (p.Ala1285=)
c.3721G= (p.Ala1241=)
c.3589G= (p.Ala1197=)
20g.32436454G>TCA408563707ASXL1c.3742G>T (p.Ala1248Ser)
c.3559G>T (p.Ala1187Ser)
n.6095G>T
c.1869+1873G>T (n.1869+1873G>T)
c.3727G>T (p.Ala1243Ser)
c.3739G>T (p.Ala1247Ser)
c.3712G>T (p.Ala1238Ser)
c.3658G>T (p.Ala1220Ser)
c.3058G>T (p.Ala1020Ser)
c.4006G>T (p.Ala1336Ser)
c.4003G>T (p.Ala1335Ser)
c.3922G>T (p.Ala1308Ser)
c.3853G>T (p.Ala1285Ser)
c.3721G>T (p.Ala1241Ser)
c.3589G>T (p.Ala1197Ser)
20g.32436455C>ACA408563710ASXL1c.3743C>A (p.Ala1248Asp)
c.3560C>A (p.Ala1187Asp)
n.6096C>A
c.1869+1874C>A (n.1869+1874C>A)
c.3728C>A (p.Ala1243Asp)
c.3740C>A (p.Ala1247Asp)
c.3713C>A (p.Ala1238Asp)
c.3659C>A (p.Ala1220Asp)
c.3059C>A (p.Ala1020Asp)
c.4007C>A (p.Ala1336Asp)
c.4004C>A (p.Ala1335Asp)
c.3923C>A (p.Ala1308Asp)
c.3854C>A (p.Ala1285Asp)
c.3722C>A (p.Ala1241Asp)
c.3590C>A (p.Ala1197Asp)
 dbSNP
20g.32436455C>GCA408563711ASXL1c.3743C>G (p.Ala1248Gly)
c.3560C>G (p.Ala1187Gly)
n.6096C>G
c.1869+1874C>G (n.1869+1874C>G)
c.3728C>G (p.Ala1243Gly)
c.3740C>G (p.Ala1247Gly)
c.3713C>G (p.Ala1238Gly)
c.3659C>G (p.Ala1220Gly)
c.3059C>G (p.Ala1020Gly)
c.4007C>G (p.Ala1336Gly)
c.4004C>G (p.Ala1335Gly)
c.3923C>G (p.Ala1308Gly)
c.3854C>G (p.Ala1285Gly)
c.3722C>G (p.Ala1241Gly)
c.3590C>G (p.Ala1197Gly)
20g.32436455C>TCA408563712ASXL1c.3743C>T (p.Ala1248Val)
c.3560C>T (p.Ala1187Val)
n.6096C>T
c.1869+1874C>T (n.1869+1874C>T)
c.3728C>T (p.Ala1243Val)
c.3740C>T (p.Ala1247Val)
c.3713C>T (p.Ala1238Val)
c.3659C>T (p.Ala1220Val)
c.3059C>T (p.Ala1020Val)
c.4007C>T (p.Ala1336Val)
c.4004C>T (p.Ala1335Val)
c.3923C>T (p.Ala1308Val)
c.3854C>T (p.Ala1285Val)
c.3722C>T (p.Ala1241Val)
c.3590C>T (p.Ala1197Val)
 dbSNP gnomAD v4 COSMIC
20g.32436455_32436458delCA2538161313ASXL1c.3743_3746del (p.Ala1248GlyfsTer?)
c.3560_3563del (p.Ala1187GlyfsTer?)
n.6096_6099del
c.1869+1874_1869+1877del (n.1869+1874_1869+1877del)
c.3728_3731del (p.Ala1243GlyfsTer?)
c.3740_3743del (p.Ala1247GlyfsTer?)
c.3713_3716del (p.Ala1238GlyfsTer?)
c.3659_3662del (p.Ala1220GlyfsTer?)
c.3059_3062del (p.Ala1020GlyfsTer?)
c.4007_4010del (p.Ala1336GlyfsTer?)
c.4004_4007del (p.Ala1335GlyfsTer?)
c.3923_3926del (p.Ala1308GlyfsTer?)
c.3854_3857del (p.Ala1285GlyfsTer?)
c.3722_3725del (p.Ala1241GlyfsTer?)
c.3590_3593del (p.Ala1197GlyfsTer?)
20g.32436456T>ACA510467625ASXL1c.3744T>A (p.Ala1248=)
c.3561T>A (p.Ala1187=)
n.6097T>A
c.1869+1875T>A (n.1869+1875T>A)
c.3729T>A (p.Ala1243=)
c.3741T>A (p.Ala1247=)
c.3714T>A (p.Ala1238=)
c.3660T>A (p.Ala1220=)
c.3060T>A (p.Ala1020=)
c.4008T>A (p.Ala1336=)
c.4005T>A (p.Ala1335=)
c.3924T>A (p.Ala1308=)
c.3855T>A (p.Ala1285=)
c.3723T>A (p.Ala1241=)
c.3591T>A (p.Ala1197=)
20g.32436456T>CCA313926358ASXL1c.3744T>C (p.Ala1248=)
c.3561T>C (p.Ala1187=)
n.6097T>C
c.1869+1875T>C (n.1869+1875T>C)
c.3729T>C (p.Ala1243=)
c.3741T>C (p.Ala1247=)
c.3714T>C (p.Ala1238=)
c.3660T>C (p.Ala1220=)
c.3060T>C (p.Ala1020=)
c.4008T>C (p.Ala1336=)
c.4005T>C (p.Ala1335=)
c.3924T>C (p.Ala1308=)
c.3855T>C (p.Ala1285=)
c.3723T>C (p.Ala1241=)
c.3591T>C (p.Ala1197=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436456T>GCA510467627ASXL1c.3744T>G (p.Ala1248=)
c.3561T>G (p.Ala1187=)
n.6097T>G
c.1869+1875T>G (n.1869+1875T>G)
c.3729T>G (p.Ala1243=)
c.3741T>G (p.Ala1247=)
c.3714T>G (p.Ala1238=)
c.3660T>G (p.Ala1220=)
c.3060T>G (p.Ala1020=)
c.4008T>G (p.Ala1336=)
c.4005T>G (p.Ala1335=)
c.3924T>G (p.Ala1308=)
c.3855T>G (p.Ala1285=)
c.3723T>G (p.Ala1241=)
c.3591T>G (p.Ala1197=)
20g.32436456T=CA2360293709ASXL1c.3744T= (p.Ala1248=)
c.3561T= (p.Ala1187=)
n.6097T=
c.1869+1875T= (n.1869+1875T=)
c.3729T= (p.Ala1243=)
c.3741T= (p.Ala1247=)
c.3714T= (p.Ala1238=)
c.3660T= (p.Ala1220=)
c.3060T= (p.Ala1020=)
c.4008T= (p.Ala1336=)
c.4005T= (p.Ala1335=)
c.3924T= (p.Ala1308=)
c.3855T= (p.Ala1285=)
c.3723T= (p.Ala1241=)
c.3591T= (p.Ala1197=)
20g.32436457A=CA2360293710ASXL1c.3745A= (p.Met1249=)
c.3562A= (p.Met1188=)
n.6098A=
c.1869+1876A= (n.1869+1876A=)
c.3730A= (p.Met1244=)
c.3742A= (p.Met1248=)
c.3715A= (p.Met1239=)
c.3661A= (p.Met1221=)
c.3061A= (p.Met1021=)
c.4009A= (p.Met1337=)
c.4006A= (p.Met1336=)
c.3925A= (p.Met1309=)
c.3856A= (p.Met1286=)
c.3724A= (p.Met1242=)
c.3592A= (p.Met1198=)
20g.32436457A>CCA408563713ASXL1c.3745A>C (p.Met1249Leu)
c.3562A>C (p.Met1188Leu)
n.6098A>C
c.1869+1876A>C (n.1869+1876A>C)
c.3730A>C (p.Met1244Leu)
c.3742A>C (p.Met1248Leu)
c.3715A>C (p.Met1239Leu)
c.3661A>C (p.Met1221Leu)
c.3061A>C (p.Met1021Leu)
c.4009A>C (p.Met1337Leu)
c.4006A>C (p.Met1336Leu)
c.3925A>C (p.Met1309Leu)
c.3856A>C (p.Met1286Leu)
c.3724A>C (p.Met1242Leu)
c.3592A>C (p.Met1198Leu)
 ClinVar
20g.32436457A>GCA156993ASXL1c.3745A>G (p.Met1249Val)
c.3562A>G (p.Met1188Val)
n.6098A>G
c.1869+1876A>G (n.1869+1876A>G)
c.3730A>G (p.Met1244Val)
c.3742A>G (p.Met1248Val)
c.3715A>G (p.Met1239Val)
c.3661A>G (p.Met1221Val)
c.3061A>G (p.Met1021Val)
c.4009A>G (p.Met1337Val)
c.4006A>G (p.Met1336Val)
c.3925A>G (p.Met1309Val)
c.3856A>G (p.Met1286Val)
c.3724A>G (p.Met1242Val)
c.3592A>G (p.Met1198Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436457A>TCA408563714ASXL1c.3745A>T (p.Met1249Leu)
c.3562A>T (p.Met1188Leu)
n.6098A>T
c.1869+1876A>T (n.1869+1876A>T)
c.3730A>T (p.Met1244Leu)
c.3742A>T (p.Met1248Leu)
c.3715A>T (p.Met1239Leu)
c.3661A>T (p.Met1221Leu)
c.3061A>T (p.Met1021Leu)
c.4009A>T (p.Met1337Leu)
c.4006A>T (p.Met1336Leu)
c.3925A>T (p.Met1309Leu)
c.3856A>T (p.Met1286Leu)
c.3724A>T (p.Met1242Leu)
c.3592A>T (p.Met1198Leu)
 gnomAD v4
20g.32436457_32436471delinsGTGTCACAGGACAGCCA2580612057ASXL1c.3745_3759delinsGTGTCACAGGACAGC (p.Met1249Val)
c.3562_3576delinsGTGTCACAGGACAGC (p.Met1188Val)
n.6098_6112delinsGTGTCACAGGACAGC
c.1869+1876_1869+1890delinsGTGTCACAGGACAGC (n.1869+1876_1869+1890delinsGTGTCACAGGACAGC)
c.3730_3744delinsGTGTCACAGGACAGC (p.Met1244Val)
c.3742_3756delinsGTGTCACAGGACAGC (p.Met1248Val)
c.3715_3729delinsGTGTCACAGGACAGC (p.Met1239Val)
c.3661_3675delinsGTGTCACAGGACAGC (p.Met1221Val)
c.3061_3075delinsGTGTCACAGGACAGC (p.Met1021Val)
c.4009_4023delinsGTGTCACAGGACAGC (p.Met1337Val)
c.4006_4020delinsGTGTCACAGGACAGC (p.Met1336Val)
c.3925_3939delinsGTGTCACAGGACAGC (p.Met1309Val)
c.3856_3870delinsGTGTCACAGGACAGC (p.Met1286Val)
c.3724_3738delinsGTGTCACAGGACAGC (p.Met1242Val)
c.3592_3606delinsGTGTCACAGGACAGC (p.Met1198Val)
20g.32436458T>ACA408563715ASXL1c.3746T>A (p.Met1249Lys)
c.3563T>A (p.Met1188Lys)
n.6099T>A
c.1869+1877T>A (n.1869+1877T>A)
c.3731T>A (p.Met1244Lys)
c.3743T>A (p.Met1248Lys)
c.3716T>A (p.Met1239Lys)
c.3662T>A (p.Met1221Lys)
c.3062T>A (p.Met1021Lys)
c.4010T>A (p.Met1337Lys)
c.4007T>A (p.Met1336Lys)
c.3926T>A (p.Met1309Lys)
c.3857T>A (p.Met1286Lys)
c.3725T>A (p.Met1242Lys)
c.3593T>A (p.Met1198Lys)
20g.32436458T>CCA9808890ASXL1c.3746T>C (p.Met1249Thr)
c.3563T>C (p.Met1188Thr)
n.6099T>C
c.1869+1877T>C (n.1869+1877T>C)
c.3731T>C (p.Met1244Thr)
c.3743T>C (p.Met1248Thr)
c.3716T>C (p.Met1239Thr)
c.3662T>C (p.Met1221Thr)
c.3062T>C (p.Met1021Thr)
c.4010T>C (p.Met1337Thr)
c.4007T>C (p.Met1336Thr)
c.3926T>C (p.Met1309Thr)
c.3857T>C (p.Met1286Thr)
c.3725T>C (p.Met1242Thr)
c.3593T>C (p.Met1198Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436458T>GCA408563716ASXL1c.3746T>G (p.Met1249Arg)
c.3563T>G (p.Met1188Arg)
n.6099T>G
c.1869+1877T>G (n.1869+1877T>G)
c.3731T>G (p.Met1244Arg)
c.3743T>G (p.Met1248Arg)
c.3716T>G (p.Met1239Arg)
c.3662T>G (p.Met1221Arg)
c.3062T>G (p.Met1021Arg)
c.4010T>G (p.Met1337Arg)
c.4007T>G (p.Met1336Arg)
c.3926T>G (p.Met1309Arg)
c.3857T>G (p.Met1286Arg)
c.3725T>G (p.Met1242Arg)
c.3593T>G (p.Met1198Arg)
20g.32436458T=CA2360293711ASXL1c.3746T= (p.Met1249=)
c.3563T= (p.Met1188=)
n.6099T=
c.1869+1877T= (n.1869+1877T=)
c.3731T= (p.Met1244=)
c.3743T= (p.Met1248=)
c.3716T= (p.Met1239=)
c.3662T= (p.Met1221=)
c.3062T= (p.Met1021=)
c.4010T= (p.Met1337=)
c.4007T= (p.Met1336=)
c.3926T= (p.Met1309=)
c.3857T= (p.Met1286=)
c.3725T= (p.Met1242=)
c.3593T= (p.Met1198=)
20g.32436459_32436460delCA2740097058ASXL1c.3747_3748del (p.Met1249IlefsTer5)
c.3564_3565del (p.Met1188IlefsTer5)
n.6100_6101del
c.1869+1878_1869+1879del (n.1869+1878_1869+1879del)
c.3732_3733del (p.Met1244IlefsTer5)
c.3744_3745del (p.Met1248IlefsTer5)
c.3717_3718del (p.Met1239IlefsTer5)
c.3663_3664del (p.Met1221IlefsTer5)
c.3063_3064del (p.Met1021IlefsTer5)
c.4011_4012del (p.Met1337IlefsTer5)
c.4008_4009del (p.Met1336IlefsTer5)
c.3927_3928del (p.Met1309IlefsTer5)
c.3858_3859del (p.Met1286IlefsTer5)
c.3726_3727del (p.Met1242IlefsTer5)
c.3594_3595del (p.Met1198IlefsTer5)
 ClinVar
20g.32436459G>ACA408563717ASXL1c.3747G>A (p.Met1249Ile)
c.3564G>A (p.Met1188Ile)
n.6100G>A
c.1869+1878G>A (n.1869+1878G>A)
c.3732G>A (p.Met1244Ile)
c.3744G>A (p.Met1248Ile)
c.3717G>A (p.Met1239Ile)
c.3663G>A (p.Met1221Ile)
c.3063G>A (p.Met1021Ile)
c.4011G>A (p.Met1337Ile)
c.4008G>A (p.Met1336Ile)
c.3927G>A (p.Met1309Ile)
c.3858G>A (p.Met1286Ile)
c.3726G>A (p.Met1242Ile)
c.3594G>A (p.Met1198Ile)
 dbSNP
20g.32436459G>CCA408563718ASXL1c.3747G>C (p.Met1249Ile)
c.3564G>C (p.Met1188Ile)
n.6100G>C
c.1869+1878G>C (n.1869+1878G>C)
c.3732G>C (p.Met1244Ile)
c.3744G>C (p.Met1248Ile)
c.3717G>C (p.Met1239Ile)
c.3663G>C (p.Met1221Ile)
c.3063G>C (p.Met1021Ile)
c.4011G>C (p.Met1337Ile)
c.4008G>C (p.Met1336Ile)
c.3927G>C (p.Met1309Ile)
c.3858G>C (p.Met1286Ile)
c.3726G>C (p.Met1242Ile)
c.3594G>C (p.Met1198Ile)
 dbSNP
20g.32436459G>TCA408563719ASXL1c.3747G>T (p.Met1249Ile)
c.3564G>T (p.Met1188Ile)
n.6100G>T
c.1869+1878G>T (n.1869+1878G>T)
c.3732G>T (p.Met1244Ile)
c.3744G>T (p.Met1248Ile)
c.3717G>T (p.Met1239Ile)
c.3663G>T (p.Met1221Ile)
c.3063G>T (p.Met1021Ile)
c.4011G>T (p.Met1337Ile)
c.4008G>T (p.Met1336Ile)
c.3927G>T (p.Met1309Ile)
c.3858G>T (p.Met1286Ile)
c.3726G>T (p.Met1242Ile)
c.3594G>T (p.Met1198Ile)
20g.32436460T>ACA408563721ASXL1c.3748T>A (p.Ser1250Thr)
c.3565T>A (p.Ser1189Thr)
n.6101T>A
c.1869+1879T>A (n.1869+1879T>A)
c.3733T>A (p.Ser1245Thr)
c.3745T>A (p.Ser1249Thr)
c.3718T>A (p.Ser1240Thr)
c.3664T>A (p.Ser1222Thr)
c.3064T>A (p.Ser1022Thr)
c.4012T>A (p.Ser1338Thr)
c.4009T>A (p.Ser1337Thr)
c.3928T>A (p.Ser1310Thr)
c.3859T>A (p.Ser1287Thr)
c.3727T>A (p.Ser1243Thr)
c.3595T>A (p.Ser1199Thr)
20g.32436460T>CCA313926359ASXL1c.3748T>C (p.Ser1250Pro)
c.3565T>C (p.Ser1189Pro)
n.6101T>C
c.1869+1879T>C (n.1869+1879T>C)
c.3733T>C (p.Ser1245Pro)
c.3745T>C (p.Ser1249Pro)
c.3718T>C (p.Ser1240Pro)
c.3664T>C (p.Ser1222Pro)
c.3064T>C (p.Ser1022Pro)
c.4012T>C (p.Ser1338Pro)
c.4009T>C (p.Ser1337Pro)
c.3928T>C (p.Ser1310Pro)
c.3859T>C (p.Ser1287Pro)
c.3727T>C (p.Ser1243Pro)
c.3595T>C (p.Ser1199Pro)
 ClinVar dbSNP gnomAD v4 COSMIC
20g.32436460T>GCA408563720ASXL1c.3748T>G (p.Ser1250Ala)
c.3565T>G (p.Ser1189Ala)
n.6101T>G
c.1869+1879T>G (n.1869+1879T>G)
c.3733T>G (p.Ser1245Ala)
c.3745T>G (p.Ser1249Ala)
c.3718T>G (p.Ser1240Ala)
c.3664T>G (p.Ser1222Ala)
c.3064T>G (p.Ser1022Ala)
c.4012T>G (p.Ser1338Ala)
c.4009T>G (p.Ser1337Ala)
c.3928T>G (p.Ser1310Ala)
c.3859T>G (p.Ser1287Ala)
c.3727T>G (p.Ser1243Ala)
c.3595T>G (p.Ser1199Ala)
20g.32436460T=CA2360293712ASXL1c.3748T= (p.Ser1250=)
c.3565T= (p.Ser1189=)
n.6101T=
c.1869+1879T= (n.1869+1879T=)
c.3733T= (p.Ser1245=)
c.3745T= (p.Ser1249=)
c.3718T= (p.Ser1240=)
c.3664T= (p.Ser1222=)
c.3064T= (p.Ser1022=)
c.4012T= (p.Ser1338=)
c.4009T= (p.Ser1337=)
c.3928T= (p.Ser1310=)
c.3859T= (p.Ser1287=)
c.3727T= (p.Ser1243=)
c.3595T= (p.Ser1199=)
20g.32436461C>ACA408563722ASXL1c.3749C>A (p.Ser1250Ter)
c.3566C>A (p.Ser1189Ter)
n.6102C>A
c.1869+1880C>A (n.1869+1880C>A)
c.3734C>A (p.Ser1245Ter)
c.3746C>A (p.Ser1249Ter)
c.3719C>A (p.Ser1240Ter)
c.3665C>A (p.Ser1222Ter)
c.3065C>A (p.Ser1022Ter)
c.4013C>A (p.Ser1338Ter)
c.4010C>A (p.Ser1337Ter)
c.3929C>A (p.Ser1310Ter)
c.3860C>A (p.Ser1287Ter)
c.3728C>A (p.Ser1243Ter)
c.3596C>A (p.Ser1199Ter)
20g.32436461C>GCA408563723ASXL1c.3749C>G (p.Ser1250Ter)
c.3566C>G (p.Ser1189Ter)
n.6102C>G
c.1869+1880C>G (n.1869+1880C>G)
c.3734C>G (p.Ser1245Ter)
c.3746C>G (p.Ser1249Ter)
c.3719C>G (p.Ser1240Ter)
c.3665C>G (p.Ser1222Ter)
c.3065C>G (p.Ser1022Ter)
c.4013C>G (p.Ser1338Ter)
c.4010C>G (p.Ser1337Ter)
c.3929C>G (p.Ser1310Ter)
c.3860C>G (p.Ser1287Ter)
c.3728C>G (p.Ser1243Ter)
c.3596C>G (p.Ser1199Ter)
20g.32436461C>TCA408563724ASXL1c.3749C>T (p.Ser1250Leu)
c.3566C>T (p.Ser1189Leu)
n.6102C>T
c.1869+1880C>T (n.1869+1880C>T)
c.3734C>T (p.Ser1245Leu)
c.3746C>T (p.Ser1249Leu)
c.3719C>T (p.Ser1240Leu)
c.3665C>T (p.Ser1222Leu)
c.3065C>T (p.Ser1022Leu)
c.4013C>T (p.Ser1338Leu)
c.4010C>T (p.Ser1337Leu)
c.3929C>T (p.Ser1310Leu)
c.3860C>T (p.Ser1287Leu)
c.3728C>T (p.Ser1243Leu)
c.3596C>T (p.Ser1199Leu)
20g.32436461_32436466delinsCACAGGCA2360293713ASXL1c.3749_3754delinsCACAGG (p.Ser1250=)
c.3566_3571delinsCACAGG (p.Ser1189=)
n.6102_6107delinsCACAGG
c.1869+1880_1869+1885delinsCACAGG (n.1869+1880_1869+1885delinsCACAGG)
c.3734_3739delinsCACAGG (p.Ser1245=)
c.3746_3751delinsCACAGG (p.Ser1249=)
c.3719_3724delinsCACAGG (p.Ser1240=)
c.3665_3670delinsCACAGG (p.Ser1222=)
c.3065_3070delinsCACAGG (p.Ser1022=)
c.4013_4018delinsCACAGG (p.Ser1338=)
c.4010_4015delinsCACAGG (p.Ser1337=)
c.3929_3934delinsCACAGG (p.Ser1310=)
c.3860_3865delinsCACAGG (p.Ser1287=)
c.3728_3733delinsCACAGG (p.Ser1243=)
c.3596_3601delinsCACAGG (p.Ser1199=)
20g.32436461_32436462insGCCGTATCATTAACA2568910414ASXL1c.3749_3750insGCCGTATCATTAA (p.Gln1251ProfsTer4)
c.3566_3567insGCCGTATCATTAA (p.Gln1190ProfsTer4)
n.6102_6103insGCCGTATCATTAA
c.1869+1880_1869+1881insGCCGTATCATTAA (n.1869+1880_1869+1881insGCCGTATCATTAA)
c.3734_3735insGCCGTATCATTAA (p.Gln1246ProfsTer4)
c.3746_3747insGCCGTATCATTAA (p.Gln1250ProfsTer4)
c.3719_3720insGCCGTATCATTAA (p.Gln1241ProfsTer4)
c.3665_3666insGCCGTATCATTAA (p.Gln1223ProfsTer4)
c.3065_3066insGCCGTATCATTAA (p.Gln1023ProfsTer4)
c.4013_4014insGCCGTATCATTAA (p.Gln1339ProfsTer4)
c.4010_4011insGCCGTATCATTAA (p.Gln1338ProfsTer4)
c.3929_3930insGCCGTATCATTAA (p.Gln1311ProfsTer4)
c.3860_3861insGCCGTATCATTAA (p.Gln1288ProfsTer4)
c.3728_3729insGCCGTATCATTAA (p.Gln1244ProfsTer4)
c.3596_3597insGCCGTATCATTAA (p.Gln1200ProfsTer4)
 gnomAD v3 gnomAD v4
20g.32436462A=CA2360293714ASXL1c.3750A= (p.Ser1250=)
c.3567A= (p.Ser1189=)
n.6103A=
c.1869+1881A= (n.1869+1881A=)
c.3735A= (p.Ser1245=)
c.3747A= (p.Ser1249=)
c.3720A= (p.Ser1240=)
c.3666A= (p.Ser1222=)
c.3066A= (p.Ser1022=)
c.4014A= (p.Ser1338=)
c.4011A= (p.Ser1337=)
c.3930A= (p.Ser1310=)
c.3861A= (p.Ser1287=)
c.3729A= (p.Ser1243=)
c.3597A= (p.Ser1199=)
20g.32436462A>CCA510467635ASXL1c.3750A>C (p.Ser1250=)
c.3567A>C (p.Ser1189=)
n.6103A>C
c.1869+1881A>C (n.1869+1881A>C)
c.3735A>C (p.Ser1245=)
c.3747A>C (p.Ser1249=)
c.3720A>C (p.Ser1240=)
c.3666A>C (p.Ser1222=)
c.3066A>C (p.Ser1022=)
c.4014A>C (p.Ser1338=)
c.4011A>C (p.Ser1337=)
c.3930A>C (p.Ser1310=)
c.3861A>C (p.Ser1287=)
c.3729A>C (p.Ser1243=)
c.3597A>C (p.Ser1199=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32436462A>GCA510467633ASXL1c.3750A>G (p.Ser1250=)
c.3567A>G (p.Ser1189=)
n.6103A>G
c.1869+1881A>G (n.1869+1881A>G)
c.3735A>G (p.Ser1245=)
c.3747A>G (p.Ser1249=)
c.3720A>G (p.Ser1240=)
c.3666A>G (p.Ser1222=)
c.3066A>G (p.Ser1022=)
c.4014A>G (p.Ser1338=)
c.4011A>G (p.Ser1337=)
c.3930A>G (p.Ser1310=)
c.3861A>G (p.Ser1287=)
c.3729A>G (p.Ser1243=)
c.3597A>G (p.Ser1199=)
 gnomAD v4
20g.32436462A>TCA510467634ASXL1c.3750A>T (p.Ser1250=)
c.3567A>T (p.Ser1189=)
n.6103A>T
c.1869+1881A>T (n.1869+1881A>T)
c.3735A>T (p.Ser1245=)
c.3747A>T (p.Ser1249=)
c.3720A>T (p.Ser1240=)
c.3666A>T (p.Ser1222=)
c.3066A>T (p.Ser1022=)
c.4014A>T (p.Ser1338=)
c.4011A>T (p.Ser1337=)
c.3930A>T (p.Ser1310=)
c.3861A>T (p.Ser1287=)
c.3729A>T (p.Ser1243=)
c.3597A>T (p.Ser1199=)
20g.32436466_32436470delCA658684237ASXL1c.3754_3758del (p.Asp1252Ter)
c.3571_3575del (p.Asp1191Ter)
n.6107_6111del
c.1869+1885_1869+1889del (n.1869+1885_1869+1889del)
c.3739_3743del (p.Asp1247Ter)
c.3751_3755del (p.Asp1251Ter)
c.3724_3728del (p.Asp1242Ter)
c.3670_3674del (p.Asp1224Ter)
c.3070_3074del (p.Asp1024Ter)
c.4018_4022del (p.Asp1340Ter)
c.4015_4019del (p.Asp1339Ter)
c.3934_3938del (p.Asp1312Ter)
c.3865_3869del (p.Asp1289Ter)
c.3733_3737del (p.Asp1245Ter)
c.3601_3605del (p.Asp1201Ter)
 ClinVar dbSNP
20g.32436463C>ACA408563725ASXL1c.3751C>A (p.Gln1251Lys)
c.3568C>A (p.Gln1190Lys)
n.6104C>A
c.1869+1882C>A (n.1869+1882C>A)
c.3736C>A (p.Gln1246Lys)
c.3748C>A (p.Gln1250Lys)
c.3721C>A (p.Gln1241Lys)
c.3667C>A (p.Gln1223Lys)
c.3067C>A (p.Gln1023Lys)
c.4015C>A (p.Gln1339Lys)
c.4012C>A (p.Gln1338Lys)
c.3931C>A (p.Gln1311Lys)
c.3862C>A (p.Gln1288Lys)
c.3730C>A (p.Gln1244Lys)
c.3598C>A (p.Gln1200Lys)
 gnomAD v3 gnomAD v4
20g.32436463C>GCA408563726ASXL1c.3751C>G (p.Gln1251Glu)
c.3568C>G (p.Gln1190Glu)
n.6104C>G
c.1869+1882C>G (n.1869+1882C>G)
c.3736C>G (p.Gln1246Glu)
c.3748C>G (p.Gln1250Glu)
c.3721C>G (p.Gln1241Glu)
c.3667C>G (p.Gln1223Glu)
c.3067C>G (p.Gln1023Glu)
c.4015C>G (p.Gln1339Glu)
c.4012C>G (p.Gln1338Glu)
c.3931C>G (p.Gln1311Glu)
c.3862C>G (p.Gln1288Glu)
c.3730C>G (p.Gln1244Glu)
c.3598C>G (p.Gln1200Glu)
20g.32436463C>TCA408563727ASXL1c.3751C>T (p.Gln1251Ter)
c.3568C>T (p.Gln1190Ter)
n.6104C>T
c.1869+1882C>T (n.1869+1882C>T)
c.3736C>T (p.Gln1246Ter)
c.3748C>T (p.Gln1250Ter)
c.3721C>T (p.Gln1241Ter)
c.3667C>T (p.Gln1223Ter)
c.3067C>T (p.Gln1023Ter)
c.4015C>T (p.Gln1339Ter)
c.4012C>T (p.Gln1338Ter)
c.3931C>T (p.Gln1311Ter)
c.3862C>T (p.Gln1288Ter)
c.3730C>T (p.Gln1244Ter)
c.3598C>T (p.Gln1200Ter)
 dbSNP COSMIC
20g.32436464A=CA2360293715ASXL1c.3752A= (p.Gln1251=)
c.3569A= (p.Gln1190=)
n.6105A=
c.1869+1883A= (n.1869+1883A=)
c.3737A= (p.Gln1246=)
c.3749A= (p.Gln1250=)
c.3722A= (p.Gln1241=)
c.3668A= (p.Gln1223=)
c.3068A= (p.Gln1023=)
c.4016A= (p.Gln1339=)
c.4013A= (p.Gln1338=)
c.3932A= (p.Gln1311=)
c.3863A= (p.Gln1288=)
c.3731A= (p.Gln1244=)
c.3599A= (p.Gln1200=)
20g.32436464A>CCA408563730ASXL1c.3752A>C (p.Gln1251Pro)
c.3569A>C (p.Gln1190Pro)
n.6105A>C
c.1869+1883A>C (n.1869+1883A>C)
c.3737A>C (p.Gln1246Pro)
c.3749A>C (p.Gln1250Pro)
c.3722A>C (p.Gln1241Pro)
c.3668A>C (p.Gln1223Pro)
c.3068A>C (p.Gln1023Pro)
c.4016A>C (p.Gln1339Pro)
c.4013A>C (p.Gln1338Pro)
c.3932A>C (p.Gln1311Pro)
c.3863A>C (p.Gln1288Pro)
c.3731A>C (p.Gln1244Pro)
c.3599A>C (p.Gln1200Pro)
20g.32436464A>GCA408563728ASXL1c.3752A>G (p.Gln1251Arg)
c.3569A>G (p.Gln1190Arg)
n.6105A>G
c.1869+1883A>G (n.1869+1883A>G)
c.3737A>G (p.Gln1246Arg)
c.3749A>G (p.Gln1250Arg)
c.3722A>G (p.Gln1241Arg)
c.3668A>G (p.Gln1223Arg)
c.3068A>G (p.Gln1023Arg)
c.4016A>G (p.Gln1339Arg)
c.4013A>G (p.Gln1338Arg)
c.3932A>G (p.Gln1311Arg)
c.3863A>G (p.Gln1288Arg)
c.3731A>G (p.Gln1244Arg)
c.3599A>G (p.Gln1200Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436464A>TCA408563729ASXL1c.3752A>T (p.Gln1251Leu)
c.3569A>T (p.Gln1190Leu)
n.6105A>T
c.1869+1883A>T (n.1869+1883A>T)
c.3737A>T (p.Gln1246Leu)
c.3749A>T (p.Gln1250Leu)
c.3722A>T (p.Gln1241Leu)
c.3668A>T (p.Gln1223Leu)
c.3068A>T (p.Gln1023Leu)
c.4016A>T (p.Gln1339Leu)
c.4013A>T (p.Gln1338Leu)
c.3932A>T (p.Gln1311Leu)
c.3863A>T (p.Gln1288Leu)
c.3731A>T (p.Gln1244Leu)
c.3599A>T (p.Gln1200Leu)
20g.32436465G>ACA510467640ASXL1c.3753G>A (p.Gln1251=)
c.3570G>A (p.Gln1190=)
n.6106G>A
c.1869+1884G>A (n.1869+1884G>A)
c.3738G>A (p.Gln1246=)
c.3750G>A (p.Gln1250=)
c.3723G>A (p.Gln1241=)
c.3669G>A (p.Gln1223=)
c.3069G>A (p.Gln1023=)
c.4017G>A (p.Gln1339=)
c.4014G>A (p.Gln1338=)
c.3933G>A (p.Gln1311=)
c.3864G>A (p.Gln1288=)
c.3732G>A (p.Gln1244=)
c.3600G>A (p.Gln1200=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436465G>CCA408563731ASXL1c.3753G>C (p.Gln1251His)
c.3570G>C (p.Gln1190His)
n.6106G>C
c.1869+1884G>C (n.1869+1884G>C)
c.3738G>C (p.Gln1246His)
c.3750G>C (p.Gln1250His)
c.3723G>C (p.Gln1241His)
c.3669G>C (p.Gln1223His)
c.3069G>C (p.Gln1023His)
c.4017G>C (p.Gln1339His)
c.4014G>C (p.Gln1338His)
c.3933G>C (p.Gln1311His)
c.3864G>C (p.Gln1288His)
c.3732G>C (p.Gln1244His)
c.3600G>C (p.Gln1200His)
20g.32436465G>TCA408563732ASXL1c.3753G>T (p.Gln1251His)
c.3570G>T (p.Gln1190His)
n.6106G>T
c.1869+1884G>T (n.1869+1884G>T)
c.3738G>T (p.Gln1246His)
c.3750G>T (p.Gln1250His)
c.3723G>T (p.Gln1241His)
c.3669G>T (p.Gln1223His)
c.3069G>T (p.Gln1023His)
c.4017G>T (p.Gln1339His)
c.4014G>T (p.Gln1338His)
c.3933G>T (p.Gln1311His)
c.3864G>T (p.Gln1288His)
c.3732G>T (p.Gln1244His)
c.3600G>T (p.Gln1200His)
20g.32436466G>ACA9808891ASXL1c.3754G>A (p.Asp1252Asn)
c.3571G>A (p.Asp1191Asn)
n.6107G>A
c.1869+1885G>A (n.1869+1885G>A)
c.3739G>A (p.Asp1247Asn)
c.3751G>A (p.Asp1251Asn)
c.3724G>A (p.Asp1242Asn)
c.3670G>A (p.Asp1224Asn)
c.3070G>A (p.Asp1024Asn)
c.4018G>A (p.Asp1340Asn)
c.4015G>A (p.Asp1339Asn)
c.3934G>A (p.Asp1312Asn)
c.3865G>A (p.Asp1289Asn)
c.3733G>A (p.Asp1245Asn)
c.3601G>A (p.Asp1201Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436466G>CCA408563733ASXL1c.3754G>C (p.Asp1252His)
c.3571G>C (p.Asp1191His)
n.6107G>C
c.1869+1885G>C (n.1869+1885G>C)
c.3739G>C (p.Asp1247His)
c.3751G>C (p.Asp1251His)
c.3724G>C (p.Asp1242His)
c.3670G>C (p.Asp1224His)
c.3070G>C (p.Asp1024His)
c.4018G>C (p.Asp1340His)
c.4015G>C (p.Asp1339His)
c.3934G>C (p.Asp1312His)
c.3865G>C (p.Asp1289His)
c.3733G>C (p.Asp1245His)
c.3601G>C (p.Asp1201His)
20g.32436466G=CA2360293716ASXL1c.3754G= (p.Asp1252=)
c.3571G= (p.Asp1191=)
n.6107G=
c.1869+1885G= (n.1869+1885G=)
c.3739G= (p.Asp1247=)
c.3751G= (p.Asp1251=)
c.3724G= (p.Asp1242=)
c.3670G= (p.Asp1224=)
c.3070G= (p.Asp1024=)
c.4018G= (p.Asp1340=)
c.4015G= (p.Asp1339=)
c.3934G= (p.Asp1312=)
c.3865G= (p.Asp1289=)
c.3733G= (p.Asp1245=)
c.3601G= (p.Asp1201=)
20g.32436466G>TCA408563734ASXL1c.3754G>T (p.Asp1252Tyr)
c.3571G>T (p.Asp1191Tyr)
n.6107G>T
c.1869+1885G>T (n.1869+1885G>T)
c.3739G>T (p.Asp1247Tyr)
c.3751G>T (p.Asp1251Tyr)
c.3724G>T (p.Asp1242Tyr)
c.3670G>T (p.Asp1224Tyr)
c.3070G>T (p.Asp1024Tyr)
c.4018G>T (p.Asp1340Tyr)
c.4015G>T (p.Asp1339Tyr)
c.3934G>T (p.Asp1312Tyr)
c.3865G>T (p.Asp1289Tyr)
c.3733G>T (p.Asp1245Tyr)
c.3601G>T (p.Asp1201Tyr)
20g.32436467A=CA2360293717ASXL1c.3755A= (p.Asp1252=)
c.3572A= (p.Asp1191=)
n.6108A=
c.1869+1886A= (n.1869+1886A=)
c.3740A= (p.Asp1247=)
c.3752A= (p.Asp1251=)
c.3725A= (p.Asp1242=)
c.3671A= (p.Asp1224=)
c.3071A= (p.Asp1024=)
c.4019A= (p.Asp1340=)
c.4016A= (p.Asp1339=)
c.3935A= (p.Asp1312=)
c.3866A= (p.Asp1289=)
c.3734A= (p.Asp1245=)
c.3602A= (p.Asp1201=)
20g.32436467A>CCA408563736ASXL1c.3755A>C (p.Asp1252Ala)
c.3572A>C (p.Asp1191Ala)
n.6108A>C
c.1869+1886A>C (n.1869+1886A>C)
c.3740A>C (p.Asp1247Ala)
c.3752A>C (p.Asp1251Ala)
c.3725A>C (p.Asp1242Ala)
c.3671A>C (p.Asp1224Ala)
c.3071A>C (p.Asp1024Ala)
c.4019A>C (p.Asp1340Ala)
c.4016A>C (p.Asp1339Ala)
c.3935A>C (p.Asp1312Ala)
c.3866A>C (p.Asp1289Ala)
c.3734A>C (p.Asp1245Ala)
c.3602A>C (p.Asp1201Ala)
20g.32436467A>GCA9808892ASXL1c.3755A>G (p.Asp1252Gly)
c.3572A>G (p.Asp1191Gly)
n.6108A>G
c.1869+1886A>G (n.1869+1886A>G)
c.3740A>G (p.Asp1247Gly)
c.3752A>G (p.Asp1251Gly)
c.3725A>G (p.Asp1242Gly)
c.3671A>G (p.Asp1224Gly)
c.3071A>G (p.Asp1024Gly)
c.4019A>G (p.Asp1340Gly)
c.4016A>G (p.Asp1339Gly)
c.3935A>G (p.Asp1312Gly)
c.3866A>G (p.Asp1289Gly)
c.3734A>G (p.Asp1245Gly)
c.3602A>G (p.Asp1201Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436467A>TCA408563735ASXL1c.3755A>T (p.Asp1252Val)
c.3572A>T (p.Asp1191Val)
n.6108A>T
c.1869+1886A>T (n.1869+1886A>T)
c.3740A>T (p.Asp1247Val)
c.3752A>T (p.Asp1251Val)
c.3725A>T (p.Asp1242Val)
c.3671A>T (p.Asp1224Val)
c.3071A>T (p.Asp1024Val)
c.4019A>T (p.Asp1340Val)
c.4016A>T (p.Asp1339Val)
c.3935A>T (p.Asp1312Val)
c.3866A>T (p.Asp1289Val)
c.3734A>T (p.Asp1245Val)
c.3602A>T (p.Asp1201Val)
20g.32436468C>ACA408563737ASXL1c.3756C>A (p.Asp1252Glu)
c.3573C>A (p.Asp1191Glu)
n.6109C>A
c.1869+1887C>A (n.1869+1887C>A)
c.3741C>A (p.Asp1247Glu)
c.3753C>A (p.Asp1251Glu)
c.3726C>A (p.Asp1242Glu)
c.3672C>A (p.Asp1224Glu)
c.3072C>A (p.Asp1024Glu)
c.4020C>A (p.Asp1340Glu)
c.4017C>A (p.Asp1339Glu)
c.3936C>A (p.Asp1312Glu)
c.3867C>A (p.Asp1289Glu)
c.3735C>A (p.Asp1245Glu)
c.3603C>A (p.Asp1201Glu)
20g.32436468C>GCA408563738ASXL1c.3756C>G (p.Asp1252Glu)
c.3573C>G (p.Asp1191Glu)
n.6109C>G
c.1869+1887C>G (n.1869+1887C>G)
c.3741C>G (p.Asp1247Glu)
c.3753C>G (p.Asp1251Glu)
c.3726C>G (p.Asp1242Glu)
c.3672C>G (p.Asp1224Glu)
c.3072C>G (p.Asp1024Glu)
c.4020C>G (p.Asp1340Glu)
c.4017C>G (p.Asp1339Glu)
c.3936C>G (p.Asp1312Glu)
c.3867C>G (p.Asp1289Glu)
c.3735C>G (p.Asp1245Glu)
c.3603C>G (p.Asp1201Glu)
20g.32436468C>TCA510467645ASXL1c.3756C>T (p.Asp1252=)
c.3573C>T (p.Asp1191=)
n.6109C>T
c.1869+1887C>T (n.1869+1887C>T)
c.3741C>T (p.Asp1247=)
c.3753C>T (p.Asp1251=)
c.3726C>T (p.Asp1242=)
c.3672C>T (p.Asp1224=)
c.3072C>T (p.Asp1024=)
c.4020C>T (p.Asp1340=)
c.4017C>T (p.Asp1339=)
c.3936C>T (p.Asp1312=)
c.3867C>T (p.Asp1289=)
c.3735C>T (p.Asp1245=)
c.3603C>T (p.Asp1201=)
20g.32436469A=CA2360293718ASXL1c.3757A= (p.Ser1253=)
c.3574A= (p.Ser1192=)
n.6110A=
c.1869+1888A= (n.1869+1888A=)
c.3742A= (p.Ser1248=)
c.3754A= (p.Ser1252=)
c.3727A= (p.Ser1243=)
c.3673A= (p.Ser1225=)
c.3073A= (p.Ser1025=)
c.4021A= (p.Ser1341=)
c.4018A= (p.Ser1340=)
c.3937A= (p.Ser1313=)
c.3868A= (p.Ser1290=)
c.3736A= (p.Ser1246=)
c.3604A= (p.Ser1202=)
20g.32436469A>CCA408563739ASXL1c.3757A>C (p.Ser1253Arg)
c.3574A>C (p.Ser1192Arg)
n.6110A>C
c.1869+1888A>C (n.1869+1888A>C)
c.3742A>C (p.Ser1248Arg)
c.3754A>C (p.Ser1252Arg)
c.3727A>C (p.Ser1243Arg)
c.3673A>C (p.Ser1225Arg)
c.3073A>C (p.Ser1025Arg)
c.4021A>C (p.Ser1341Arg)
c.4018A>C (p.Ser1340Arg)
c.3937A>C (p.Ser1313Arg)
c.3868A>C (p.Ser1290Arg)
c.3736A>C (p.Ser1246Arg)
c.3604A>C (p.Ser1202Arg)
20g.32436469A>GCA408563741ASXL1c.3757A>G (p.Ser1253Gly)
c.3574A>G (p.Ser1192Gly)
n.6110A>G
c.1869+1888A>G (n.1869+1888A>G)
c.3742A>G (p.Ser1248Gly)
c.3754A>G (p.Ser1252Gly)
c.3727A>G (p.Ser1243Gly)
c.3673A>G (p.Ser1225Gly)
c.3073A>G (p.Ser1025Gly)
c.4021A>G (p.Ser1341Gly)
c.4018A>G (p.Ser1340Gly)
c.3937A>G (p.Ser1313Gly)
c.3868A>G (p.Ser1290Gly)
c.3736A>G (p.Ser1246Gly)
c.3604A>G (p.Ser1202Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436469A>TCA408563740ASXL1c.3757A>T (p.Ser1253Cys)
c.3574A>T (p.Ser1192Cys)
n.6110A>T
c.1869+1888A>T (n.1869+1888A>T)
c.3742A>T (p.Ser1248Cys)
c.3754A>T (p.Ser1252Cys)
c.3727A>T (p.Ser1243Cys)
c.3673A>T (p.Ser1225Cys)
c.3073A>T (p.Ser1025Cys)
c.4021A>T (p.Ser1341Cys)
c.4018A>T (p.Ser1340Cys)
c.3937A>T (p.Ser1313Cys)
c.3868A>T (p.Ser1290Cys)
c.3736A>T (p.Ser1246Cys)
c.3604A>T (p.Ser1202Cys)
20g.32436470G>ACA408563742ASXL1c.3758G>A (p.Ser1253Asn)
c.3575G>A (p.Ser1192Asn)
n.6111G>A
c.1869+1889G>A (n.1869+1889G>A)
c.3743G>A (p.Ser1248Asn)
c.3755G>A (p.Ser1252Asn)
c.3728G>A (p.Ser1243Asn)
c.3674G>A (p.Ser1225Asn)
c.3074G>A (p.Ser1025Asn)
c.4022G>A (p.Ser1341Asn)
c.4019G>A (p.Ser1340Asn)
c.3938G>A (p.Ser1313Asn)
c.3869G>A (p.Ser1290Asn)
c.3737G>A (p.Ser1246Asn)
c.3605G>A (p.Ser1202Asn)
 gnomAD v4
20g.32436470G>CCA408563744ASXL1c.3758G>C (p.Ser1253Thr)
c.3575G>C (p.Ser1192Thr)
n.6111G>C
c.1869+1889G>C (n.1869+1889G>C)
c.3743G>C (p.Ser1248Thr)
c.3755G>C (p.Ser1252Thr)
c.3728G>C (p.Ser1243Thr)
c.3674G>C (p.Ser1225Thr)
c.3074G>C (p.Ser1025Thr)
c.4022G>C (p.Ser1341Thr)
c.4019G>C (p.Ser1340Thr)
c.3938G>C (p.Ser1313Thr)
c.3869G>C (p.Ser1290Thr)
c.3737G>C (p.Ser1246Thr)
c.3605G>C (p.Ser1202Thr)
20g.32436470G=CA2360293719ASXL1c.3758G= (p.Ser1253=)
c.3575G= (p.Ser1192=)
n.6111G=
c.1869+1889G= (n.1869+1889G=)
c.3743G= (p.Ser1248=)
c.3755G= (p.Ser1252=)
c.3728G= (p.Ser1243=)
c.3674G= (p.Ser1225=)
c.3074G= (p.Ser1025=)
c.4022G= (p.Ser1341=)
c.4019G= (p.Ser1340=)
c.3938G= (p.Ser1313=)
c.3869G= (p.Ser1290=)
c.3737G= (p.Ser1246=)
c.3605G= (p.Ser1202=)
20g.32436470G>TCA408563743ASXL1c.3758G>T (p.Ser1253Ile)
c.3575G>T (p.Ser1192Ile)
n.6111G>T
c.1869+1889G>T (n.1869+1889G>T)
c.3743G>T (p.Ser1248Ile)
c.3755G>T (p.Ser1252Ile)
c.3728G>T (p.Ser1243Ile)
c.3674G>T (p.Ser1225Ile)
c.3074G>T (p.Ser1025Ile)
c.4022G>T (p.Ser1341Ile)
c.4019G>T (p.Ser1340Ile)
c.3938G>T (p.Ser1313Ile)
c.3869G>T (p.Ser1290Ile)
c.3737G>T (p.Ser1246Ile)
c.3605G>T (p.Ser1202Ile)
20g.32436470dupCA2842273176ASXL1c.3758dup (p.Ser1253ArgfsTer2)
c.3575dup (p.Ser1192ArgfsTer2)
n.6111dup
c.1869+1889dup (n.1869+1889dup)
c.3743dup (p.Ser1248ArgfsTer2)
c.3755dup (p.Ser1252ArgfsTer2)
c.3728dup (p.Ser1243ArgfsTer2)
c.3674dup (p.Ser1225ArgfsTer2)
c.3074dup (p.Ser1025ArgfsTer2)
c.4022dup (p.Ser1341ArgfsTer2)
c.4019dup (p.Ser1340ArgfsTer2)
c.3938dup (p.Ser1313ArgfsTer2)
c.3869dup (p.Ser1290ArgfsTer2)
c.3737dup (p.Ser1246ArgfsTer2)
c.3605dup (p.Ser1202ArgfsTer2)
20g.32436470_32436471insCCA9808893ASXL1c.3758_3759insC (p.Asn1254Ter)
c.3575_3576insC (p.Asn1193Ter)
n.6111_6112insC
c.1869+1889_1869+1890insC (n.1869+1889_1869+1890insC)
c.3743_3744insC (p.Asn1249Ter)
c.3755_3756insC (p.Asn1253Ter)
c.3728_3729insC (p.Asn1244Ter)
c.3674_3675insC (p.Asn1226Ter)
c.3074_3075insC (p.Asn1026Ter)
c.4022_4023insC (p.Asn1342Ter)
c.4019_4020insC (p.Asn1341Ter)
c.3938_3939insC (p.Asn1314Ter)
c.3869_3870insC (p.Asn1291Ter)
c.3737_3738insC (p.Asn1247Ter)
c.3605_3606insC (p.Asn1203Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436471T>ACA408563745ASXL1c.3759T>A (p.Ser1253Arg)
c.3576T>A (p.Ser1192Arg)
n.6112T>A
c.1869+1890T>A (n.1869+1890T>A)
c.3744T>A (p.Ser1248Arg)
c.3756T>A (p.Ser1252Arg)
c.3729T>A (p.Ser1243Arg)
c.3675T>A (p.Ser1225Arg)
c.3075T>A (p.Ser1025Arg)
c.4023T>A (p.Ser1341Arg)
c.4020T>A (p.Ser1340Arg)
c.3939T>A (p.Ser1313Arg)
c.3870T>A (p.Ser1290Arg)
c.3738T>A (p.Ser1246Arg)
c.3606T>A (p.Ser1202Arg)
 dbSNP
20g.32436471T>CCA9808894ASXL1c.3759T>C (p.Ser1253=)
c.3576T>C (p.Ser1192=)
n.6112T>C
c.1869+1890T>C (n.1869+1890T>C)
c.3744T>C (p.Ser1248=)
c.3756T>C (p.Ser1252=)
c.3729T>C (p.Ser1243=)
c.3675T>C (p.Ser1225=)
c.3075T>C (p.Ser1025=)
c.4023T>C (p.Ser1341=)
c.4020T>C (p.Ser1340=)
c.3939T>C (p.Ser1313=)
c.3870T>C (p.Ser1290=)
c.3738T>C (p.Ser1246=)
c.3606T>C (p.Ser1202=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436471T>GCA408563746ASXL1c.3759T>G (p.Ser1253Arg)
c.3576T>G (p.Ser1192Arg)
n.6112T>G
c.1869+1890T>G (n.1869+1890T>G)
c.3744T>G (p.Ser1248Arg)
c.3756T>G (p.Ser1252Arg)
c.3729T>G (p.Ser1243Arg)
c.3675T>G (p.Ser1225Arg)
c.3075T>G (p.Ser1025Arg)
c.4023T>G (p.Ser1341Arg)
c.4020T>G (p.Ser1340Arg)
c.3939T>G (p.Ser1313Arg)
c.3870T>G (p.Ser1290Arg)
c.3738T>G (p.Ser1246Arg)
c.3606T>G (p.Ser1202Arg)
20g.32436471T=CA2360293720ASXL1c.3759T= (p.Ser1253=)
c.3576T= (p.Ser1192=)
n.6112T=
c.1869+1890T= (n.1869+1890T=)
c.3744T= (p.Ser1248=)
c.3756T= (p.Ser1252=)
c.3729T= (p.Ser1243=)
c.3675T= (p.Ser1225=)
c.3075T= (p.Ser1025=)
c.4023T= (p.Ser1341=)
c.4020T= (p.Ser1340=)
c.3939T= (p.Ser1313=)
c.3870T= (p.Ser1290=)
c.3738T= (p.Ser1246=)
c.3606T= (p.Ser1202=)
20g.32436472A>CCA408563747ASXL1c.3760A>C (p.Asn1254His)
c.3577A>C (p.Asn1193His)
n.6113A>C
c.1869+1891A>C (n.1869+1891A>C)
c.3745A>C (p.Asn1249His)
c.3757A>C (p.Asn1253His)
c.3730A>C (p.Asn1244His)
c.3676A>C (p.Asn1226His)
c.3076A>C (p.Asn1026His)
c.4024A>C (p.Asn1342His)
c.4021A>C (p.Asn1341His)
c.3940A>C (p.Asn1314His)
c.3871A>C (p.Asn1291His)
c.3739A>C (p.Asn1247His)
c.3607A>C (p.Asn1203His)
20g.32436472A>GCA408563748ASXL1c.3760A>G (p.Asn1254Asp)
c.3577A>G (p.Asn1193Asp)
n.6113A>G
c.1869+1891A>G (n.1869+1891A>G)
c.3745A>G (p.Asn1249Asp)
c.3757A>G (p.Asn1253Asp)
c.3730A>G (p.Asn1244Asp)
c.3676A>G (p.Asn1226Asp)
c.3076A>G (p.Asn1026Asp)
c.4024A>G (p.Asn1342Asp)
c.4021A>G (p.Asn1341Asp)
c.3940A>G (p.Asn1314Asp)
c.3871A>G (p.Asn1291Asp)
c.3739A>G (p.Asn1247Asp)
c.3607A>G (p.Asn1203Asp)
20g.32436472A>TCA408563749ASXL1c.3760A>T (p.Asn1254Tyr)
c.3577A>T (p.Asn1193Tyr)
n.6113A>T
c.1869+1891A>T (n.1869+1891A>T)
c.3745A>T (p.Asn1249Tyr)
c.3757A>T (p.Asn1253Tyr)
c.3730A>T (p.Asn1244Tyr)
c.3676A>T (p.Asn1226Tyr)
c.3076A>T (p.Asn1026Tyr)
c.4024A>T (p.Asn1342Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3940A>T (p.Asn1314Tyr)
c.3871A>T (p.Asn1291Tyr)
c.3739A>T (p.Asn1247Tyr)
c.3607A>T (p.Asn1203Tyr)
20g.32436473A=CA2360293721ASXL1c.3761A= (p.Asn1254=)
c.3578A= (p.Asn1193=)
n.6114A=
c.1869+1892A= (n.1869+1892A=)
c.3746A= (p.Asn1249=)
c.3758A= (p.Asn1253=)
c.3731A= (p.Asn1244=)
c.3677A= (p.Asn1226=)
c.3077A= (p.Asn1026=)
c.4025A= (p.Asn1342=)
c.4022A= (p.Asn1341=)
c.3941A= (p.Asn1314=)
c.3872A= (p.Asn1291=)
c.3740A= (p.Asn1247=)
c.3608A= (p.Asn1203=)
20g.32436473A>CCA408563751ASXL1c.3761A>C (p.Asn1254Thr)
c.3578A>C (p.Asn1193Thr)
n.6114A>C
c.1869+1892A>C (n.1869+1892A>C)
c.3746A>C (p.Asn1249Thr)
c.3758A>C (p.Asn1253Thr)
c.3731A>C (p.Asn1244Thr)
c.3677A>C (p.Asn1226Thr)
c.3077A>C (p.Asn1026Thr)
c.4025A>C (p.Asn1342Thr)
c.4022A>C (p.Asn1341Thr)
c.3941A>C (p.Asn1314Thr)
c.3872A>C (p.Asn1291Thr)
c.3740A>C (p.Asn1247Thr)
c.3608A>C (p.Asn1203Thr)
20g.32436473A>GCA156996ASXL1c.3761A>G (p.Asn1254Ser)
c.3578A>G (p.Asn1193Ser)
n.6114A>G
c.1869+1892A>G (n.1869+1892A>G)
c.3746A>G (p.Asn1249Ser)
c.3758A>G (p.Asn1253Ser)
c.3731A>G (p.Asn1244Ser)
c.3677A>G (p.Asn1226Ser)
c.3077A>G (p.Asn1026Ser)
c.4025A>G (p.Asn1342Ser)
c.4022A>G (p.Asn1341Ser)
c.3941A>G (p.Asn1314Ser)
c.3872A>G (p.Asn1291Ser)
c.3740A>G (p.Asn1247Ser)
c.3608A>G (p.Asn1203Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436473A>TCA408563750ASXL1c.3761A>T (p.Asn1254Ile)
c.3578A>T (p.Asn1193Ile)
n.6114A>T
c.1869+1892A>T (n.1869+1892A>T)
c.3746A>T (p.Asn1249Ile)
c.3758A>T (p.Asn1253Ile)
c.3731A>T (p.Asn1244Ile)
c.3677A>T (p.Asn1226Ile)
c.3077A>T (p.Asn1026Ile)
c.4025A>T (p.Asn1342Ile)
c.4022A>T (p.Asn1341Ile)
c.3941A>T (p.Asn1314Ile)
c.3872A>T (p.Asn1291Ile)
c.3740A>T (p.Asn1247Ile)
c.3608A>T (p.Asn1203Ile)
20g.32436474T>ACA408563752ASXL1c.3762T>A (p.Asn1254Lys)
c.3579T>A (p.Asn1193Lys)
n.6115T>A
c.1869+1893T>A (n.1869+1893T>A)
c.3747T>A (p.Asn1249Lys)
c.3759T>A (p.Asn1253Lys)
c.3732T>A (p.Asn1244Lys)
c.3678T>A (p.Asn1226Lys)
c.3078T>A (p.Asn1026Lys)
c.4026T>A (p.Asn1342Lys)
c.4023T>A (p.Asn1341Lys)
c.3942T>A (p.Asn1314Lys)
c.3873T>A (p.Asn1291Lys)
c.3741T>A (p.Asn1247Lys)
c.3609T>A (p.Asn1203Lys)
20g.32436474T>CCA510467650ASXL1c.3762T>C (p.Asn1254=)
c.3579T>C (p.Asn1193=)
n.6115T>C
c.1869+1893T>C (n.1869+1893T>C)
c.3747T>C (p.Asn1249=)
c.3759T>C (p.Asn1253=)
c.3732T>C (p.Asn1244=)
c.3678T>C (p.Asn1226=)
c.3078T>C (p.Asn1026=)
c.4026T>C (p.Asn1342=)
c.4023T>C (p.Asn1341=)
c.3942T>C (p.Asn1314=)
c.3873T>C (p.Asn1291=)
c.3741T>C (p.Asn1247=)
c.3609T>C (p.Asn1203=)
20g.32436474T>GCA408563753ASXL1c.3762T>G (p.Asn1254Lys)
c.3579T>G (p.Asn1193Lys)
n.6115T>G
c.1869+1893T>G (n.1869+1893T>G)
c.3747T>G (p.Asn1249Lys)
c.3759T>G (p.Asn1253Lys)
c.3732T>G (p.Asn1244Lys)
c.3678T>G (p.Asn1226Lys)
c.3078T>G (p.Asn1026Lys)
c.4026T>G (p.Asn1342Lys)
c.4023T>G (p.Asn1341Lys)
c.3942T>G (p.Asn1314Lys)
c.3873T>G (p.Asn1291Lys)
c.3741T>G (p.Asn1247Lys)
c.3609T>G (p.Asn1203Lys)
20g.32436475delCA2695229725ASXL1c.3763del (p.Ser1255GlnfsTer25)
c.3580del (p.Ser1194GlnfsTer25)
n.6116del
c.1869+1894del (n.1869+1894del)
c.3748del (p.Ser1250GlnfsTer25)
c.3760del (p.Ser1254GlnfsTer25)
c.3733del (p.Ser1245GlnfsTer25)
c.3679del (p.Ser1227GlnfsTer25)
c.3079del (p.Ser1027GlnfsTer25)
c.4027del (p.Ser1343GlnfsTer25)
c.4024del (p.Ser1342GlnfsTer25)
c.3943del (p.Ser1315GlnfsTer25)
c.3874del (p.Ser1292GlnfsTer25)
c.3742del (p.Ser1248GlnfsTer25)
c.3610del (p.Ser1204GlnfsTer25)
20g.32436475T>ACA408563754ASXL1c.3763T>A (p.Ser1255Thr)
c.3580T>A (p.Ser1194Thr)
n.6116T>A
c.1869+1894T>A (n.1869+1894T>A)
c.3748T>A (p.Ser1250Thr)
c.3760T>A (p.Ser1254Thr)
c.3733T>A (p.Ser1245Thr)
c.3679T>A (p.Ser1227Thr)
c.3079T>A (p.Ser1027Thr)
c.4027T>A (p.Ser1343Thr)
c.4024T>A (p.Ser1342Thr)
c.3943T>A (p.Ser1315Thr)
c.3874T>A (p.Ser1292Thr)
c.3742T>A (p.Ser1248Thr)
c.3610T>A (p.Ser1204Thr)
20g.32436475T>CCA408563755ASXL1c.3763T>C (p.Ser1255Pro)
c.3580T>C (p.Ser1194Pro)
n.6116T>C
c.1869+1894T>C (n.1869+1894T>C)
c.3748T>C (p.Ser1250Pro)
c.3760T>C (p.Ser1254Pro)
c.3733T>C (p.Ser1245Pro)
c.3679T>C (p.Ser1227Pro)
c.3079T>C (p.Ser1027Pro)
c.4027T>C (p.Ser1343Pro)
c.4024T>C (p.Ser1342Pro)
c.3943T>C (p.Ser1315Pro)
c.3874T>C (p.Ser1292Pro)
c.3742T>C (p.Ser1248Pro)
c.3610T>C (p.Ser1204Pro)
 ClinVar dbSNP
20g.32436475T>GCA408563756ASXL1c.3763T>G (p.Ser1255Ala)
c.3580T>G (p.Ser1194Ala)
n.6116T>G
c.1869+1894T>G (n.1869+1894T>G)
c.3748T>G (p.Ser1250Ala)
c.3760T>G (p.Ser1254Ala)
c.3733T>G (p.Ser1245Ala)
c.3679T>G (p.Ser1227Ala)
c.3079T>G (p.Ser1027Ala)
c.4027T>G (p.Ser1343Ala)
c.4024T>G (p.Ser1342Ala)
c.3943T>G (p.Ser1315Ala)
c.3874T>G (p.Ser1292Ala)
c.3742T>G (p.Ser1248Ala)
c.3610T>G (p.Ser1204Ala)
20g.32436476delCA2695202491ASXL1c.3764del (p.Ser1255Ter)
c.3581del (p.Ser1194Ter)
n.6117del
c.1869+1895del (n.1869+1895del)
c.3749del (p.Ser1250Ter)
c.3761del (p.Ser1254Ter)
c.3734del (p.Ser1245Ter)
c.3680del (p.Ser1227Ter)
c.3080del (p.Ser1027Ter)
c.4028del (p.Ser1343Ter)
c.4025del (p.Ser1342Ter)
c.3944del (p.Ser1315Ter)
c.3875del (p.Ser1292Ter)
c.3743del (p.Ser1248Ter)
c.3611del (p.Ser1204Ter)
20g.32436476C>ACA408563757ASXL1c.3764C>A (p.Ser1255Ter)
c.3581C>A (p.Ser1194Ter)
n.6117C>A
c.1869+1895C>A (n.1869+1895C>A)
c.3749C>A (p.Ser1250Ter)
c.3761C>A (p.Ser1254Ter)
c.3734C>A (p.Ser1245Ter)
c.3680C>A (p.Ser1227Ter)
c.3080C>A (p.Ser1027Ter)
c.4028C>A (p.Ser1343Ter)
c.4025C>A (p.Ser1342Ter)
c.3944C>A (p.Ser1315Ter)
c.3875C>A (p.Ser1292Ter)
c.3743C>A (p.Ser1248Ter)
c.3611C>A (p.Ser1204Ter)
 dbSNP
20g.32436476C>GCA408563759ASXL1c.3764C>G (p.Ser1255Ter)
c.3581C>G (p.Ser1194Ter)
n.6117C>G
c.1869+1895C>G (n.1869+1895C>G)
c.3749C>G (p.Ser1250Ter)
c.3761C>G (p.Ser1254Ter)
c.3734C>G (p.Ser1245Ter)
c.3680C>G (p.Ser1227Ter)
c.3080C>G (p.Ser1027Ter)
c.4028C>G (p.Ser1343Ter)
c.4025C>G (p.Ser1342Ter)
c.3944C>G (p.Ser1315Ter)
c.3875C>G (p.Ser1292Ter)
c.3743C>G (p.Ser1248Ter)
c.3611C>G (p.Ser1204Ter)
 COSMIC
20g.32436476C>TCA408563758ASXL1c.3764C>T (p.Ser1255Leu)
c.3581C>T (p.Ser1194Leu)
n.6117C>T
c.1869+1895C>T (n.1869+1895C>T)
c.3749C>T (p.Ser1250Leu)
c.3761C>T (p.Ser1254Leu)
c.3734C>T (p.Ser1245Leu)
c.3680C>T (p.Ser1227Leu)
c.3080C>T (p.Ser1027Leu)
c.4028C>T (p.Ser1343Leu)
c.4025C>T (p.Ser1342Leu)
c.3944C>T (p.Ser1315Leu)
c.3875C>T (p.Ser1292Leu)
c.3743C>T (p.Ser1248Leu)
c.3611C>T (p.Ser1204Leu)
 gnomAD v4
20g.32436476_32436477delinsCACA2360293722ASXL1c.3764_3765delinsCA (p.Ser1255=)
c.3581_3582delinsCA (p.Ser1194=)
n.6117_6118delinsCA
c.1869+1895_1869+1896delinsCA (n.1869+1895_1869+1896delinsCA)
c.3749_3750delinsCA (p.Ser1250=)
c.3761_3762delinsCA (p.Ser1254=)
c.3734_3735delinsCA (p.Ser1245=)
c.3680_3681delinsCA (p.Ser1227=)
c.3080_3081delinsCA (p.Ser1027=)
c.4028_4029delinsCA (p.Ser1343=)
c.4025_4026delinsCA (p.Ser1342=)
c.3944_3945delinsCA (p.Ser1315=)
c.3875_3876delinsCA (p.Ser1292=)
c.3743_3744delinsCA (p.Ser1248=)
c.3611_3612delinsCA (p.Ser1204=)
20g.32436477A>CCA510467651ASXL1c.3765A>C (p.Ser1255=)
c.3582A>C (p.Ser1194=)
n.6118A>C
c.1869+1896A>C (n.1869+1896A>C)
c.3750A>C (p.Ser1250=)
c.3762A>C (p.Ser1254=)
c.3735A>C (p.Ser1245=)
c.3681A>C (p.Ser1227=)
c.3081A>C (p.Ser1027=)
c.4029A>C (p.Ser1343=)
c.4026A>C (p.Ser1342=)
c.3945A>C (p.Ser1315=)
c.3876A>C (p.Ser1292=)
c.3744A>C (p.Ser1248=)
c.3612A>C (p.Ser1204=)
20g.32436477A>GCA510467652ASXL1c.3765A>G (p.Ser1255=)
c.3582A>G (p.Ser1194=)
n.6118A>G
c.1869+1896A>G (n.1869+1896A>G)
c.3750A>G (p.Ser1250=)
c.3762A>G (p.Ser1254=)
c.3735A>G (p.Ser1245=)
c.3681A>G (p.Ser1227=)
c.3081A>G (p.Ser1027=)
c.4029A>G (p.Ser1343=)
c.4026A>G (p.Ser1342=)
c.3945A>G (p.Ser1315=)
c.3876A>G (p.Ser1292=)
c.3744A>G (p.Ser1248=)
c.3612A>G (p.Ser1204=)
20g.32436477A>TCA510467653ASXL1c.3765A>T (p.Ser1255=)
c.3582A>T (p.Ser1194=)
n.6118A>T
c.1869+1896A>T (n.1869+1896A>T)
c.3750A>T (p.Ser1250=)
c.3762A>T (p.Ser1254=)
c.3735A>T (p.Ser1245=)
c.3681A>T (p.Ser1227=)
c.3081A>T (p.Ser1027=)
c.4029A>T (p.Ser1343=)
c.4026A>T (p.Ser1342=)
c.3945A>T (p.Ser1315=)
c.3876A>T (p.Ser1292=)
c.3744A>T (p.Ser1248=)
c.3612A>T (p.Ser1204=)
20g.32436479delCA9808895ASXL1c.3767del (p.Asn1256MetfsTer24)
c.3584del (p.Asn1195MetfsTer24)
n.6120del
c.1869+1898del (n.1869+1898del)
c.3752del (p.Asn1251MetfsTer24)
c.3764del (p.Asn1255MetfsTer24)
c.3737del (p.Asn1246MetfsTer24)
c.3683del (p.Asn1228MetfsTer24)
c.3083del (p.Asn1028MetfsTer24)
c.4031del (p.Asn1344MetfsTer24)
c.4028del (p.Asn1343MetfsTer24)
c.3947del (p.Asn1316MetfsTer24)
c.3878del (p.Asn1293MetfsTer24)
c.3746del (p.Asn1249MetfsTer24)
c.3614del (p.Asn1205MetfsTer24)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436478A>CCA408563760ASXL1c.3766A>C (p.Asn1256His)
c.3583A>C (p.Asn1195His)
n.6119A>C
c.1869+1897A>C (n.1869+1897A>C)
c.3751A>C (p.Asn1251His)
c.3763A>C (p.Asn1255His)
c.3736A>C (p.Asn1246His)
c.3682A>C (p.Asn1228His)
c.3082A>C (p.Asn1028His)
c.4030A>C (p.Asn1344His)
c.4027A>C (p.Asn1343His)
c.3946A>C (p.Asn1316His)
c.3877A>C (p.Asn1293His)
c.3745A>C (p.Asn1249His)
c.3613A>C (p.Asn1205His)
20g.32436478A>GCA408563761ASXL1c.3766A>G (p.Asn1256Asp)
c.3583A>G (p.Asn1195Asp)
n.6119A>G
c.1869+1897A>G (n.1869+1897A>G)
c.3751A>G (p.Asn1251Asp)
c.3763A>G (p.Asn1255Asp)
c.3736A>G (p.Asn1246Asp)
c.3682A>G (p.Asn1228Asp)
c.3082A>G (p.Asn1028Asp)
c.4030A>G (p.Asn1344Asp)
c.4027A>G (p.Asn1343Asp)
c.3946A>G (p.Asn1316Asp)
c.3877A>G (p.Asn1293Asp)
c.3745A>G (p.Asn1249Asp)
c.3613A>G (p.Asn1205Asp)
20g.32436478A>TCA408563762ASXL1c.3766A>T (p.Asn1256Tyr)
c.3583A>T (p.Asn1195Tyr)
n.6119A>T
c.1869+1897A>T (n.1869+1897A>T)
c.3751A>T (p.Asn1251Tyr)
c.3763A>T (p.Asn1255Tyr)
c.3736A>T (p.Asn1246Tyr)
c.3682A>T (p.Asn1228Tyr)
c.3082A>T (p.Asn1028Tyr)
c.4030A>T (p.Asn1344Tyr)
c.4027A>T (p.Asn1343Tyr)
c.3946A>T (p.Asn1316Tyr)
c.3877A>T (p.Asn1293Tyr)
c.3745A>T (p.Asn1249Tyr)
c.3613A>T (p.Asn1205Tyr)
20g.32436479A=CA2360293723ASXL1c.3767A= (p.Asn1256=)
c.3584A= (p.Asn1195=)
n.6120A=
c.1869+1898A= (n.1869+1898A=)
c.3752A= (p.Asn1251=)
c.3764A= (p.Asn1255=)
c.3737A= (p.Asn1246=)
c.3683A= (p.Asn1228=)
c.3083A= (p.Asn1028=)
c.4031A= (p.Asn1344=)
c.4028A= (p.Asn1343=)
c.3947A= (p.Asn1316=)
c.3878A= (p.Asn1293=)
c.3746A= (p.Asn1249=)
c.3614A= (p.Asn1205=)
20g.32436479A>CCA408563763ASXL1c.3767A>C (p.Asn1256Thr)
c.3584A>C (p.Asn1195Thr)
n.6120A>C
c.1869+1898A>C (n.1869+1898A>C)
c.3752A>C (p.Asn1251Thr)
c.3764A>C (p.Asn1255Thr)
c.3737A>C (p.Asn1246Thr)
c.3683A>C (p.Asn1228Thr)
c.3083A>C (p.Asn1028Thr)
c.4031A>C (p.Asn1344Thr)
c.4028A>C (p.Asn1343Thr)
c.3947A>C (p.Asn1316Thr)
c.3878A>C (p.Asn1293Thr)
c.3746A>C (p.Asn1249Thr)
c.3614A>C (p.Asn1205Thr)
20g.32436479A>GCA408563764ASXL1c.3767A>G (p.Asn1256Ser)
c.3584A>G (p.Asn1195Ser)
n.6120A>G
c.1869+1898A>G (n.1869+1898A>G)
c.3752A>G (p.Asn1251Ser)
c.3764A>G (p.Asn1255Ser)
c.3737A>G (p.Asn1246Ser)
c.3683A>G (p.Asn1228Ser)
c.3083A>G (p.Asn1028Ser)
c.4031A>G (p.Asn1344Ser)
c.4028A>G (p.Asn1343Ser)
c.3947A>G (p.Asn1316Ser)
c.3878A>G (p.Asn1293Ser)
c.3746A>G (p.Asn1249Ser)
c.3614A>G (p.Asn1205Ser)
 gnomAD v4
20g.32436479A>TCA9808896ASXL1c.3767A>T (p.Asn1256Ile)
c.3584A>T (p.Asn1195Ile)
n.6120A>T
c.1869+1898A>T (n.1869+1898A>T)
c.3752A>T (p.Asn1251Ile)
c.3764A>T (p.Asn1255Ile)
c.3737A>T (p.Asn1246Ile)
c.3683A>T (p.Asn1228Ile)
c.3083A>T (p.Asn1028Ile)
c.4031A>T (p.Asn1344Ile)
c.4028A>T (p.Asn1343Ile)
c.3947A>T (p.Asn1316Ile)
c.3878A>T (p.Asn1293Ile)
c.3746A>T (p.Asn1249Ile)
c.3614A>T (p.Asn1205Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436480delCA658768355ASXL1c.3768del (p.Asn1256LysfsTer24)
c.3585del (p.Asn1195LysfsTer24)
n.6121del
c.1869+1899del (n.1869+1899del)
c.3753del (p.Asn1251LysfsTer24)
c.3765del (p.Asn1255LysfsTer24)
c.3738del (p.Asn1246LysfsTer24)
c.3684del (p.Asn1228LysfsTer24)
c.3084del (p.Asn1028LysfsTer24)
c.4032del (p.Asn1344LysfsTer24)
c.4029del (p.Asn1343LysfsTer24)
c.3948del (p.Asn1316LysfsTer24)
c.3879del (p.Asn1293LysfsTer24)
c.3747del (p.Asn1249LysfsTer24)
c.3615del (p.Asn1205LysfsTer24)
20g.32436480T>ACA408563765ASXL1c.3768T>A (p.Asn1256Lys)
c.3585T>A (p.Asn1195Lys)
n.6121T>A
c.1869+1899T>A (n.1869+1899T>A)
c.3753T>A (p.Asn1251Lys)
c.3765T>A (p.Asn1255Lys)
c.3738T>A (p.Asn1246Lys)
c.3684T>A (p.Asn1228Lys)
c.3084T>A (p.Asn1028Lys)
c.4032T>A (p.Asn1344Lys)
c.4029T>A (p.Asn1343Lys)
c.3948T>A (p.Asn1316Lys)
c.3879T>A (p.Asn1293Lys)
c.3747T>A (p.Asn1249Lys)
c.3615T>A (p.Asn1205Lys)
20g.32436480T>CCA510467657ASXL1c.3768T>C (p.Asn1256=)
c.3585T>C (p.Asn1195=)
n.6121T>C
c.1869+1899T>C (n.1869+1899T>C)
c.3753T>C (p.Asn1251=)
c.3765T>C (p.Asn1255=)
c.3738T>C (p.Asn1246=)
c.3684T>C (p.Asn1228=)
c.3084T>C (p.Asn1028=)
c.4032T>C (p.Asn1344=)
c.4029T>C (p.Asn1343=)
c.3948T>C (p.Asn1316=)
c.3879T>C (p.Asn1293=)
c.3747T>C (p.Asn1249=)
c.3615T>C (p.Asn1205=)
20g.32436480T>GCA408563766ASXL1c.3768T>G (p.Asn1256Lys)
c.3585T>G (p.Asn1195Lys)
n.6121T>G
c.1869+1899T>G (n.1869+1899T>G)
c.3753T>G (p.Asn1251Lys)
c.3765T>G (p.Asn1255Lys)
c.3738T>G (p.Asn1246Lys)
c.3684T>G (p.Asn1228Lys)
c.3084T>G (p.Asn1028Lys)
c.4032T>G (p.Asn1344Lys)
c.4029T>G (p.Asn1343Lys)
c.3948T>G (p.Asn1316Lys)
c.3879T>G (p.Asn1293Lys)
c.3747T>G (p.Asn1249Lys)
c.3615T>G (p.Asn1205Lys)
20g.32436480_32436481delinsTGCA2360293724ASXL1c.3768_3769delinsTG (p.Asn1256=)
c.3585_3586delinsTG (p.Asn1195=)
n.6121_6122delinsTG
c.1869+1899_1869+1900delinsTG (n.1869+1899_1869+1900delinsTG)
c.3753_3754delinsTG (p.Asn1251=)
c.3765_3766delinsTG (p.Asn1255=)
c.3738_3739delinsTG (p.Asn1246=)
c.3684_3685delinsTG (p.Asn1228=)
c.3084_3085delinsTG (p.Asn1028=)
c.4032_4033delinsTG (p.Asn1344=)
c.4029_4030delinsTG (p.Asn1343=)
c.3948_3949delinsTG (p.Asn1316=)
c.3879_3880delinsTG (p.Asn1293=)
c.3747_3748delinsTG (p.Asn1249=)
c.3615_3616delinsTG (p.Asn1205=)
20g.32436480_32436481dupCA635268552ASXL1c.3768_3769dup (p.Ala1257ValfsTer24)
c.3585_3586dup (p.Ala1196ValfsTer24)
n.6121_6122dup
c.1869+1899_1869+1900dup (n.1869+1899_1869+1900dup)
c.3753_3754dup (p.Ala1252ValfsTer24)
c.3765_3766dup (p.Ala1256ValfsTer24)
c.3738_3739dup (p.Ala1247ValfsTer24)
c.3684_3685dup (p.Ala1229ValfsTer24)
c.3084_3085dup (p.Ala1029ValfsTer24)
c.4032_4033dup (p.Ala1345ValfsTer24)
c.4029_4030dup (p.Ala1344ValfsTer24)
c.3948_3949dup (p.Ala1317ValfsTer24)
c.3879_3880dup (p.Ala1294ValfsTer24)
c.3747_3748dup (p.Ala1250ValfsTer24)
c.3615_3616dup (p.Ala1206ValfsTer24)
 gnomAD v2 gnomAD v4
20g.32436481delCA915952954ASXL1c.3769del (p.Ala1257LeufsTer23)
c.3586del (p.Ala1196LeufsTer23)
n.6122del
c.1869+1900del (n.1869+1900del)
c.3754del (p.Ala1252LeufsTer23)
c.3766del (p.Ala1256LeufsTer23)
c.3739del (p.Ala1247LeufsTer23)
c.3685del (p.Ala1229LeufsTer23)
c.3085del (p.Ala1029LeufsTer23)
c.4033del (p.Ala1345LeufsTer23)
c.4030del (p.Ala1344LeufsTer23)
c.3949del (p.Ala1317LeufsTer23)
c.3880del (p.Ala1294LeufsTer23)
c.3748del (p.Ala1250LeufsTer23)
c.3616del (p.Ala1206LeufsTer23)
 ClinVar dbSNP
20g.32436481G>ACA408563767ASXL1c.3769G>A (p.Ala1257Thr)
c.3586G>A (p.Ala1196Thr)
n.6122G>A
c.1869+1900G>A (n.1869+1900G>A)
c.3754G>A (p.Ala1252Thr)
c.3766G>A (p.Ala1256Thr)
c.3739G>A (p.Ala1247Thr)
c.3685G>A (p.Ala1229Thr)
c.3085G>A (p.Ala1029Thr)
c.4033G>A (p.Ala1345Thr)
c.4030G>A (p.Ala1344Thr)
c.3949G>A (p.Ala1317Thr)
c.3880G>A (p.Ala1294Thr)
c.3748G>A (p.Ala1250Thr)
c.3616G>A (p.Ala1206Thr)
 gnomAD v4
20g.32436481G>CCA408563768ASXL1c.3769G>C (p.Ala1257Pro)
c.3586G>C (p.Ala1196Pro)
n.6122G>C
c.1869+1900G>C (n.1869+1900G>C)
c.3754G>C (p.Ala1252Pro)
c.3766G>C (p.Ala1256Pro)
c.3739G>C (p.Ala1247Pro)
c.3685G>C (p.Ala1229Pro)
c.3085G>C (p.Ala1029Pro)
c.4033G>C (p.Ala1345Pro)
c.4030G>C (p.Ala1344Pro)
c.3949G>C (p.Ala1317Pro)
c.3880G>C (p.Ala1294Pro)
c.3748G>C (p.Ala1250Pro)
c.3616G>C (p.Ala1206Pro)
20g.32436481G>TCA408563769ASXL1c.3769G>T (p.Ala1257Ser)
c.3586G>T (p.Ala1196Ser)
n.6122G>T
c.1869+1900G>T (n.1869+1900G>T)
c.3754G>T (p.Ala1252Ser)
c.3766G>T (p.Ala1256Ser)
c.3739G>T (p.Ala1247Ser)
c.3685G>T (p.Ala1229Ser)
c.3085G>T (p.Ala1029Ser)
c.4033G>T (p.Ala1345Ser)
c.4030G>T (p.Ala1344Ser)
c.3949G>T (p.Ala1317Ser)
c.3880G>T (p.Ala1294Ser)
c.3748G>T (p.Ala1250Ser)
c.3616G>T (p.Ala1206Ser)
20g.32436482C>ACA408563770ASXL1c.3770C>A (p.Ala1257Asp)
c.3587C>A (p.Ala1196Asp)
n.6123C>A
c.1869+1901C>A (n.1869+1901C>A)
c.3755C>A (p.Ala1252Asp)
c.3767C>A (p.Ala1256Asp)
c.3740C>A (p.Ala1247Asp)
c.3686C>A (p.Ala1229Asp)
c.3086C>A (p.Ala1029Asp)
c.4034C>A (p.Ala1345Asp)
c.4031C>A (p.Ala1344Asp)
c.3950C>A (p.Ala1317Asp)
c.3881C>A (p.Ala1294Asp)
c.3749C>A (p.Ala1250Asp)
c.3617C>A (p.Ala1206Asp)
20g.32436482C=CA2360293725ASXL1c.3770C= (p.Ala1257=)
c.3587C= (p.Ala1196=)
n.6123C=
c.1869+1901C= (n.1869+1901C=)
c.3755C= (p.Ala1252=)
c.3767C= (p.Ala1256=)
c.3740C= (p.Ala1247=)
c.3686C= (p.Ala1229=)
c.3086C= (p.Ala1029=)
c.4034C= (p.Ala1345=)
c.4031C= (p.Ala1344=)
c.3950C= (p.Ala1317=)
c.3881C= (p.Ala1294=)
c.3749C= (p.Ala1250=)
c.3617C= (p.Ala1206=)
20g.32436482C>GCA408563772ASXL1c.3770C>G (p.Ala1257Gly)
c.3587C>G (p.Ala1196Gly)
n.6123C>G
c.1869+1901C>G (n.1869+1901C>G)
c.3755C>G (p.Ala1252Gly)
c.3767C>G (p.Ala1256Gly)
c.3740C>G (p.Ala1247Gly)
c.3686C>G (p.Ala1229Gly)
c.3086C>G (p.Ala1029Gly)
c.4034C>G (p.Ala1345Gly)
c.4031C>G (p.Ala1344Gly)
c.3950C>G (p.Ala1317Gly)
c.3881C>G (p.Ala1294Gly)
c.3749C>G (p.Ala1250Gly)
c.3617C>G (p.Ala1206Gly)
 gnomAD v4
20g.32436482C>TCA408563771ASXL1c.3770C>T (p.Ala1257Val)
c.3587C>T (p.Ala1196Val)
n.6123C>T
c.1869+1901C>T (n.1869+1901C>T)
c.3755C>T (p.Ala1252Val)
c.3767C>T (p.Ala1256Val)
c.3740C>T (p.Ala1247Val)
c.3686C>T (p.Ala1229Val)
c.3086C>T (p.Ala1029Val)
c.4034C>T (p.Ala1345Val)
c.4031C>T (p.Ala1344Val)
c.3950C>T (p.Ala1317Val)
c.3881C>T (p.Ala1294Val)
c.3749C>T (p.Ala1250Val)
c.3617C>T (p.Ala1206Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436483T>ACA510467659ASXL1c.3771T>A (p.Ala1257=)
c.3588T>A (p.Ala1196=)
n.6124T>A
c.1869+1902T>A (n.1869+1902T>A)
c.3756T>A (p.Ala1252=)
c.3768T>A (p.Ala1256=)
c.3741T>A (p.Ala1247=)
c.3687T>A (p.Ala1229=)
c.3087T>A (p.Ala1029=)
c.4035T>A (p.Ala1345=)
c.4032T>A (p.Ala1344=)
c.3951T>A (p.Ala1317=)
c.3882T>A (p.Ala1294=)
c.3750T>A (p.Ala1250=)
c.3618T>A (p.Ala1206=)
20g.32436483T>CCA510467660ASXL1c.3771T>C (p.Ala1257=)
c.3588T>C (p.Ala1196=)
n.6124T>C
c.1869+1902T>C (n.1869+1902T>C)
c.3756T>C (p.Ala1252=)
c.3768T>C (p.Ala1256=)
c.3741T>C (p.Ala1247=)
c.3687T>C (p.Ala1229=)
c.3087T>C (p.Ala1029=)
c.4035T>C (p.Ala1345=)
c.4032T>C (p.Ala1344=)
c.3951T>C (p.Ala1317=)
c.3882T>C (p.Ala1294=)
c.3750T>C (p.Ala1250=)
c.3618T>C (p.Ala1206=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436483T>GCA510467661ASXL1c.3771T>G (p.Ala1257=)
c.3588T>G (p.Ala1196=)
n.6124T>G
c.1869+1902T>G (n.1869+1902T>G)
c.3756T>G (p.Ala1252=)
c.3768T>G (p.Ala1256=)
c.3741T>G (p.Ala1247=)
c.3687T>G (p.Ala1229=)
c.3087T>G (p.Ala1029=)
c.4035T>G (p.Ala1345=)
c.4032T>G (p.Ala1344=)
c.3951T>G (p.Ala1317=)
c.3882T>G (p.Ala1294=)
c.3750T>G (p.Ala1250=)
c.3618T>G (p.Ala1206=)
20g.32436483T=CA2360293727ASXL1c.3771T= (p.Ala1257=)
c.3588T= (p.Ala1196=)
n.6124T=
c.1869+1902T= (n.1869+1902T=)
c.3756T= (p.Ala1252=)
c.3768T= (p.Ala1256=)
c.3741T= (p.Ala1247=)
c.3687T= (p.Ala1229=)
c.3087T= (p.Ala1029=)
c.4035T= (p.Ala1345=)
c.4032T= (p.Ala1344=)
c.3951T= (p.Ala1317=)
c.3882T= (p.Ala1294=)
c.3750T= (p.Ala1250=)
c.3618T= (p.Ala1206=)
20g.32436483_32436484delinsTGCA2360293726ASXL1c.3771_3772delinsTG (p.Ala1257=)
c.3588_3589delinsTG (p.Ala1196=)
n.6124_6125delinsTG
c.1869+1902_1869+1903delinsTG (n.1869+1902_1869+1903delinsTG)
c.3756_3757delinsTG (p.Ala1252=)
c.3768_3769delinsTG (p.Ala1256=)
c.3741_3742delinsTG (p.Ala1247=)
c.3687_3688delinsTG (p.Ala1229=)
c.3087_3088delinsTG (p.Ala1029=)
c.4035_4036delinsTG (p.Ala1345=)
c.4032_4033delinsTG (p.Ala1344=)
c.3951_3952delinsTG (p.Ala1317=)
c.3882_3883delinsTG (p.Ala1294=)
c.3750_3751delinsTG (p.Ala1250=)
c.3618_3619delinsTG (p.Ala1206=)
20g.32436484delCA743615700ASXL1c.3772del (p.Ala1258LeufsTer22)
c.3589del (p.Ala1197LeufsTer22)
n.6125del
c.1869+1903del (n.1869+1903del)
c.3757del (p.Ala1253LeufsTer22)
c.3769del (p.Ala1257LeufsTer22)
c.3742del (p.Ala1248LeufsTer22)
c.3688del (p.Ala1230LeufsTer22)
c.3088del (p.Ala1030LeufsTer22)
c.4036del (p.Ala1346LeufsTer22)
c.4033del (p.Ala1345LeufsTer22)
c.3952del (p.Ala1318LeufsTer22)
c.3883del (p.Ala1295LeufsTer22)
c.3751del (p.Ala1251LeufsTer22)
c.3619del (p.Ala1207LeufsTer22)
 dbSNP
20g.32436484G>ACA408563773ASXL1c.3772G>A (p.Ala1258Thr)
c.3589G>A (p.Ala1197Thr)
n.6125G>A
c.1869+1903G>A (n.1869+1903G>A)
c.3757G>A (p.Ala1253Thr)
c.3769G>A (p.Ala1257Thr)
c.3742G>A (p.Ala1248Thr)
c.3688G>A (p.Ala1230Thr)
c.3088G>A (p.Ala1030Thr)
c.4036G>A (p.Ala1346Thr)
c.4033G>A (p.Ala1345Thr)
c.3952G>A (p.Ala1318Thr)
c.3883G>A (p.Ala1295Thr)
c.3751G>A (p.Ala1251Thr)
c.3619G>A (p.Ala1207Thr)
 dbSNP gnomAD v4
20g.32436484G>CCA408563774ASXL1c.3772G>C (p.Ala1258Pro)
c.3589G>C (p.Ala1197Pro)
n.6125G>C
c.1869+1903G>C (n.1869+1903G>C)
c.3757G>C (p.Ala1253Pro)
c.3769G>C (p.Ala1257Pro)
c.3742G>C (p.Ala1248Pro)
c.3688G>C (p.Ala1230Pro)
c.3088G>C (p.Ala1030Pro)
c.4036G>C (p.Ala1346Pro)
c.4033G>C (p.Ala1345Pro)
c.3952G>C (p.Ala1318Pro)
c.3883G>C (p.Ala1295Pro)
c.3751G>C (p.Ala1251Pro)
c.3619G>C (p.Ala1207Pro)
20g.32436484G=CA2360293728ASXL1c.3772G= (p.Ala1258=)
c.3589G= (p.Ala1197=)
n.6125G=
c.1869+1903G= (n.1869+1903G=)
c.3757G= (p.Ala1253=)
c.3769G= (p.Ala1257=)
c.3742G= (p.Ala1248=)
c.3688G= (p.Ala1230=)
c.3088G= (p.Ala1030=)
c.4036G= (p.Ala1346=)
c.4033G= (p.Ala1345=)
c.3952G= (p.Ala1318=)
c.3883G= (p.Ala1295=)
c.3751G= (p.Ala1251=)
c.3619G= (p.Ala1207=)
20g.32436484G>TCA313926360ASXL1c.3772G>T (p.Ala1258Ser)
c.3589G>T (p.Ala1197Ser)
n.6125G>T
c.1869+1903G>T (n.1869+1903G>T)
c.3757G>T (p.Ala1253Ser)
c.3769G>T (p.Ala1257Ser)
c.3742G>T (p.Ala1248Ser)
c.3688G>T (p.Ala1230Ser)
c.3088G>T (p.Ala1030Ser)
c.4036G>T (p.Ala1346Ser)
c.4033G>T (p.Ala1345Ser)
c.3952G>T (p.Ala1318Ser)
c.3883G>T (p.Ala1295Ser)
c.3751G>T (p.Ala1251Ser)
c.3619G>T (p.Ala1207Ser)
 dbSNP
20g.32436485C>ACA408563775ASXL1c.3773C>A (p.Ala1258Asp)
c.3590C>A (p.Ala1197Asp)
n.6126C>A
c.1869+1904C>A (n.1869+1904C>A)
c.3758C>A (p.Ala1253Asp)
c.3770C>A (p.Ala1257Asp)
c.3743C>A (p.Ala1248Asp)
c.3689C>A (p.Ala1230Asp)
c.3089C>A (p.Ala1030Asp)
c.4037C>A (p.Ala1346Asp)
c.4034C>A (p.Ala1345Asp)
c.3953C>A (p.Ala1318Asp)
c.3884C>A (p.Ala1295Asp)
c.3752C>A (p.Ala1251Asp)
c.3620C>A (p.Ala1207Asp)
20g.32436485C=CA2360293729ASXL1c.3773C= (p.Ala1258=)
c.3590C= (p.Ala1197=)
n.6126C=
c.1869+1904C= (n.1869+1904C=)
c.3758C= (p.Ala1253=)
c.3770C= (p.Ala1257=)
c.3743C= (p.Ala1248=)
c.3689C= (p.Ala1230=)
c.3089C= (p.Ala1030=)
c.4037C= (p.Ala1346=)
c.4034C= (p.Ala1345=)
c.3953C= (p.Ala1318=)
c.3884C= (p.Ala1295=)
c.3752C= (p.Ala1251=)
c.3620C= (p.Ala1207=)
20g.32436485C>GCA408563776ASXL1c.3773C>G (p.Ala1258Gly)
c.3590C>G (p.Ala1197Gly)
n.6126C>G
c.1869+1904C>G (n.1869+1904C>G)
c.3758C>G (p.Ala1253Gly)
c.3770C>G (p.Ala1257Gly)
c.3743C>G (p.Ala1248Gly)
c.3689C>G (p.Ala1230Gly)
c.3089C>G (p.Ala1030Gly)
c.4037C>G (p.Ala1346Gly)
c.4034C>G (p.Ala1345Gly)
c.3953C>G (p.Ala1318Gly)
c.3884C>G (p.Ala1295Gly)
c.3752C>G (p.Ala1251Gly)
c.3620C>G (p.Ala1207Gly)
20g.32436485C>TCA313926361ASXL1c.3773C>T (p.Ala1258Val)
c.3590C>T (p.Ala1197Val)
n.6126C>T
c.1869+1904C>T (n.1869+1904C>T)
c.3758C>T (p.Ala1253Val)
c.3770C>T (p.Ala1257Val)
c.3743C>T (p.Ala1248Val)
c.3689C>T (p.Ala1230Val)
c.3089C>T (p.Ala1030Val)
c.4037C>T (p.Ala1346Val)
c.4034C>T (p.Ala1345Val)
c.3953C>T (p.Ala1318Val)
c.3884C>T (p.Ala1295Val)
c.3752C>T (p.Ala1251Val)
c.3620C>T (p.Ala1207Val)
 dbSNP gnomAD v2 gnomAD v4
20g.32436486T>ACA510467665ASXL1c.3774T>A (p.Ala1258=)
c.3591T>A (p.Ala1197=)
n.6127T>A
c.1869+1905T>A (n.1869+1905T>A)
c.3759T>A (p.Ala1253=)
c.3771T>A (p.Ala1257=)
c.3744T>A (p.Ala1248=)
c.3690T>A (p.Ala1230=)
c.3090T>A (p.Ala1030=)
c.4038T>A (p.Ala1346=)
c.4035T>A (p.Ala1345=)
c.3954T>A (p.Ala1318=)
c.3885T>A (p.Ala1295=)
c.3753T>A (p.Ala1251=)
c.3621T>A (p.Ala1207=)
 dbSNP
20g.32436486T>CCA510467666ASXL1c.3774T>C (p.Ala1258=)
c.3591T>C (p.Ala1197=)
n.6127T>C
c.1869+1905T>C (n.1869+1905T>C)
c.3759T>C (p.Ala1253=)
c.3771T>C (p.Ala1257=)
c.3744T>C (p.Ala1248=)
c.3690T>C (p.Ala1230=)
c.3090T>C (p.Ala1030=)
c.4038T>C (p.Ala1346=)
c.4035T>C (p.Ala1345=)
c.3954T>C (p.Ala1318=)
c.3885T>C (p.Ala1295=)
c.3753T>C (p.Ala1251=)
c.3621T>C (p.Ala1207=)
20g.32436486T>GCA510467667ASXL1c.3774T>G (p.Ala1258=)
c.3591T>G (p.Ala1197=)
n.6127T>G
c.1869+1905T>G (n.1869+1905T>G)
c.3759T>G (p.Ala1253=)
c.3771T>G (p.Ala1257=)
c.3744T>G (p.Ala1248=)
c.3690T>G (p.Ala1230=)
c.3090T>G (p.Ala1030=)
c.4038T>G (p.Ala1346=)
c.4035T>G (p.Ala1345=)
c.3954T>G (p.Ala1318=)
c.3885T>G (p.Ala1295=)
c.3753T>G (p.Ala1251=)
c.3621T>G (p.Ala1207=)
20g.32436487C>ACA408563777ASXL1c.3775C>A (p.Pro1259Thr)
c.3592C>A (p.Pro1198Thr)
n.6128C>A
c.1869+1906C>A (n.1869+1906C>A)
c.3760C>A (p.Pro1254Thr)
c.3772C>A (p.Pro1258Thr)
c.3745C>A (p.Pro1249Thr)
c.3691C>A (p.Pro1231Thr)
c.3091C>A (p.Pro1031Thr)
c.4039C>A (p.Pro1347Thr)
c.4036C>A (p.Pro1346Thr)
c.3955C>A (p.Pro1319Thr)
c.3886C>A (p.Pro1296Thr)
c.3754C>A (p.Pro1252Thr)
c.3622C>A (p.Pro1208Thr)
20g.32436487C=CA2360293730ASXL1c.3775C= (p.Pro1259=)
c.3592C= (p.Pro1198=)
n.6128C=
c.1869+1906C= (n.1869+1906C=)
c.3760C= (p.Pro1254=)
c.3772C= (p.Pro1258=)
c.3745C= (p.Pro1249=)
c.3691C= (p.Pro1231=)
c.3091C= (p.Pro1031=)
c.4039C= (p.Pro1347=)
c.4036C= (p.Pro1346=)
c.3955C= (p.Pro1319=)
c.3886C= (p.Pro1296=)
c.3754C= (p.Pro1252=)
c.3622C= (p.Pro1208=)
20g.32436487C>GCA408563778ASXL1c.3775C>G (p.Pro1259Ala)
c.3592C>G (p.Pro1198Ala)
n.6128C>G
c.1869+1906C>G (n.1869+1906C>G)
c.3760C>G (p.Pro1254Ala)
c.3772C>G (p.Pro1258Ala)
c.3745C>G (p.Pro1249Ala)
c.3691C>G (p.Pro1231Ala)
c.3091C>G (p.Pro1031Ala)
c.4039C>G (p.Pro1347Ala)
c.4036C>G (p.Pro1346Ala)
c.3955C>G (p.Pro1319Ala)
c.3886C>G (p.Pro1296Ala)
c.3754C>G (p.Pro1252Ala)
c.3622C>G (p.Pro1208Ala)
20g.32436487C>TCA408563779ASXL1c.3775C>T (p.Pro1259Ser)
c.3592C>T (p.Pro1198Ser)
n.6128C>T
c.1869+1906C>T (n.1869+1906C>T)
c.3760C>T (p.Pro1254Ser)
c.3772C>T (p.Pro1258Ser)
c.3745C>T (p.Pro1249Ser)
c.3691C>T (p.Pro1231Ser)
c.3091C>T (p.Pro1031Ser)
c.4039C>T (p.Pro1347Ser)
c.4036C>T (p.Pro1346Ser)
c.3955C>T (p.Pro1319Ser)
c.3886C>T (p.Pro1296Ser)
c.3754C>T (p.Pro1252Ser)
c.3622C>T (p.Pro1208Ser)
 dbSNP gnomAD v4
20g.32436488C>ACA408563780ASXL1c.3776C>A (p.Pro1259Gln)
c.3593C>A (p.Pro1198Gln)
n.6129C>A
c.1869+1907C>A (n.1869+1907C>A)
c.3761C>A (p.Pro1254Gln)
c.3773C>A (p.Pro1258Gln)
c.3746C>A (p.Pro1249Gln)
c.3692C>A (p.Pro1231Gln)
c.3092C>A (p.Pro1031Gln)
c.4040C>A (p.Pro1347Gln)
c.4037C>A (p.Pro1346Gln)
c.3956C>A (p.Pro1319Gln)
c.3887C>A (p.Pro1296Gln)
c.3755C>A (p.Pro1252Gln)
c.3623C>A (p.Pro1208Gln)
20g.32436488C=CA2360293731ASXL1c.3776C= (p.Pro1259=)
c.3593C= (p.Pro1198=)
n.6129C=
c.1869+1907C= (n.1869+1907C=)
c.3761C= (p.Pro1254=)
c.3773C= (p.Pro1258=)
c.3746C= (p.Pro1249=)
c.3692C= (p.Pro1231=)
c.3092C= (p.Pro1031=)
c.4040C= (p.Pro1347=)
c.4037C= (p.Pro1346=)
c.3956C= (p.Pro1319=)
c.3887C= (p.Pro1296=)
c.3755C= (p.Pro1252=)
c.3623C= (p.Pro1208=)
20g.32436488C>GCA408563781ASXL1c.3776C>G (p.Pro1259Arg)
c.3593C>G (p.Pro1198Arg)
n.6129C>G
c.1869+1907C>G (n.1869+1907C>G)
c.3761C>G (p.Pro1254Arg)
c.3773C>G (p.Pro1258Arg)
c.3746C>G (p.Pro1249Arg)
c.3692C>G (p.Pro1231Arg)
c.3092C>G (p.Pro1031Arg)
c.4040C>G (p.Pro1347Arg)
c.4037C>G (p.Pro1346Arg)
c.3956C>G (p.Pro1319Arg)
c.3887C>G (p.Pro1296Arg)
c.3755C>G (p.Pro1252Arg)
c.3623C>G (p.Pro1208Arg)
20g.32436488C>TCA9808897ASXL1c.3776C>T (p.Pro1259Leu)
c.3593C>T (p.Pro1198Leu)
n.6129C>T
c.1869+1907C>T (n.1869+1907C>T)
c.3761C>T (p.Pro1254Leu)
c.3773C>T (p.Pro1258Leu)
c.3746C>T (p.Pro1249Leu)
c.3692C>T (p.Pro1231Leu)
c.3092C>T (p.Pro1031Leu)
c.4040C>T (p.Pro1347Leu)
c.4037C>T (p.Pro1346Leu)
c.3956C>T (p.Pro1319Leu)
c.3887C>T (p.Pro1296Leu)
c.3755C>T (p.Pro1252Leu)
c.3623C>T (p.Pro1208Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436489A>CCA510467670ASXL1c.3777A>C (p.Pro1259=)
c.3594A>C (p.Pro1198=)
n.6130A>C
c.1869+1908A>C (n.1869+1908A>C)
c.3762A>C (p.Pro1254=)
c.3774A>C (p.Pro1258=)
c.3747A>C (p.Pro1249=)
c.3693A>C (p.Pro1231=)
c.3093A>C (p.Pro1031=)
c.4041A>C (p.Pro1347=)
c.4038A>C (p.Pro1346=)
c.3957A>C (p.Pro1319=)
c.3888A>C (p.Pro1296=)
c.3756A>C (p.Pro1252=)
c.3624A>C (p.Pro1208=)
20g.32436489A>GCA510467671ASXL1c.3777A>G (p.Pro1259=)
c.3594A>G (p.Pro1198=)
n.6130A>G
c.1869+1908A>G (n.1869+1908A>G)
c.3762A>G (p.Pro1254=)
c.3774A>G (p.Pro1258=)
c.3747A>G (p.Pro1249=)
c.3693A>G (p.Pro1231=)
c.3093A>G (p.Pro1031=)
c.4041A>G (p.Pro1347=)
c.4038A>G (p.Pro1346=)
c.3957A>G (p.Pro1319=)
c.3888A>G (p.Pro1296=)
c.3756A>G (p.Pro1252=)
c.3624A>G (p.Pro1208=)
20g.32436489A>TCA510467672ASXL1c.3777A>T (p.Pro1259=)
c.3594A>T (p.Pro1198=)
n.6130A>T
c.1869+1908A>T (n.1869+1908A>T)
c.3762A>T (p.Pro1254=)
c.3774A>T (p.Pro1258=)
c.3747A>T (p.Pro1249=)
c.3693A>T (p.Pro1231=)
c.3093A>T (p.Pro1031=)
c.4041A>T (p.Pro1347=)
c.4038A>T (p.Pro1346=)
c.3957A>T (p.Pro1319=)
c.3888A>T (p.Pro1296=)
c.3756A>T (p.Pro1252=)
c.3624A>T (p.Pro1208=)
20g.32436490G>ACA408563784ASXL1c.3778G>A (p.Gly1260Arg)
c.3595G>A (p.Gly1199Arg)
n.6131G>A
c.1869+1909G>A (n.1869+1909G>A)
c.3763G>A (p.Gly1255Arg)
c.3775G>A (p.Gly1259Arg)
c.3748G>A (p.Gly1250Arg)
c.3694G>A (p.Gly1232Arg)
c.3094G>A (p.Gly1032Arg)
c.4042G>A (p.Gly1348Arg)
c.4039G>A (p.Gly1347Arg)
c.3958G>A (p.Gly1320Arg)
c.3889G>A (p.Gly1297Arg)
c.3757G>A (p.Gly1253Arg)
c.3625G>A (p.Gly1209Arg)
 gnomAD v4
20g.32436490G>CCA408563783ASXL1c.3778G>C (p.Gly1260Arg)
c.3595G>C (p.Gly1199Arg)
n.6131G>C
c.1869+1909G>C (n.1869+1909G>C)
c.3763G>C (p.Gly1255Arg)
c.3775G>C (p.Gly1259Arg)
c.3748G>C (p.Gly1250Arg)
c.3694G>C (p.Gly1232Arg)
c.3094G>C (p.Gly1032Arg)
c.4042G>C (p.Gly1348Arg)
c.4039G>C (p.Gly1347Arg)
c.3958G>C (p.Gly1320Arg)
c.3889G>C (p.Gly1297Arg)
c.3757G>C (p.Gly1253Arg)
c.3625G>C (p.Gly1209Arg)
20g.32436490G>TCA408563782ASXL1c.3778G>T (p.Gly1260Ter)
c.3595G>T (p.Gly1199Ter)
n.6131G>T
c.1869+1909G>T (n.1869+1909G>T)
c.3763G>T (p.Gly1255Ter)
c.3775G>T (p.Gly1259Ter)
c.3748G>T (p.Gly1250Ter)
c.3694G>T (p.Gly1232Ter)
c.3094G>T (p.Gly1032Ter)
c.4042G>T (p.Gly1348Ter)
c.4039G>T (p.Gly1347Ter)
c.3958G>T (p.Gly1320Ter)
c.3889G>T (p.Gly1297Ter)
c.3757G>T (p.Gly1253Ter)
c.3625G>T (p.Gly1209Ter)
20g.32436491G>ACA408563785ASXL1c.3779G>A (p.Gly1260Glu)
c.3596G>A (p.Gly1199Glu)
n.6132G>A
c.1869+1910G>A (n.1869+1910G>A)
c.3764G>A (p.Gly1255Glu)
c.3776G>A (p.Gly1259Glu)
c.3749G>A (p.Gly1250Glu)
c.3695G>A (p.Gly1232Glu)
c.3095G>A (p.Gly1032Glu)
c.4043G>A (p.Gly1348Glu)
c.4040G>A (p.Gly1347Glu)
c.3959G>A (p.Gly1320Glu)
c.3890G>A (p.Gly1297Glu)
c.3758G>A (p.Gly1253Glu)
c.3626G>A (p.Gly1209Glu)
20g.32436491G>CCA408563786ASXL1c.3779G>C (p.Gly1260Ala)
c.3596G>C (p.Gly1199Ala)
n.6132G>C
c.1869+1910G>C (n.1869+1910G>C)
c.3764G>C (p.Gly1255Ala)
c.3776G>C (p.Gly1259Ala)
c.3749G>C (p.Gly1250Ala)
c.3695G>C (p.Gly1232Ala)
c.3095G>C (p.Gly1032Ala)
c.4043G>C (p.Gly1348Ala)
c.4040G>C (p.Gly1347Ala)
c.3959G>C (p.Gly1320Ala)
c.3890G>C (p.Gly1297Ala)
c.3758G>C (p.Gly1253Ala)
c.3626G>C (p.Gly1209Ala)
 gnomAD v4 COSMIC
20g.32436491G>TCA408563787ASXL1c.3779G>T (p.Gly1260Val)
c.3596G>T (p.Gly1199Val)
n.6132G>T
c.1869+1910G>T (n.1869+1910G>T)
c.3764G>T (p.Gly1255Val)
c.3776G>T (p.Gly1259Val)
c.3749G>T (p.Gly1250Val)
c.3695G>T (p.Gly1232Val)
c.3095G>T (p.Gly1032Val)
c.4043G>T (p.Gly1348Val)
c.4040G>T (p.Gly1347Val)
c.3959G>T (p.Gly1320Val)
c.3890G>T (p.Gly1297Val)
c.3758G>T (p.Gly1253Val)
c.3626G>T (p.Gly1209Val)
 gnomAD v4
20g.32436492A=CA2360293732ASXL1c.3780A= (p.Gly1260=)
c.3597A= (p.Gly1199=)
n.6133A=
c.1869+1911A= (n.1869+1911A=)
c.3765A= (p.Gly1255=)
c.3777A= (p.Gly1259=)
c.3750A= (p.Gly1250=)
c.3696A= (p.Gly1232=)
c.3096A= (p.Gly1032=)
c.4044A= (p.Gly1348=)
c.4041A= (p.Gly1347=)
c.3960A= (p.Gly1320=)
c.3891A= (p.Gly1297=)
c.3759A= (p.Gly1253=)
c.3627A= (p.Gly1209=)
20g.32436492A>CCA9808898ASXL1c.3780A>C (p.Gly1260=)
c.3597A>C (p.Gly1199=)
n.6133A>C
c.1869+1911A>C (n.1869+1911A>C)
c.3765A>C (p.Gly1255=)
c.3777A>C (p.Gly1259=)
c.3750A>C (p.Gly1250=)
c.3696A>C (p.Gly1232=)
c.3096A>C (p.Gly1032=)
c.4044A>C (p.Gly1348=)
c.4041A>C (p.Gly1347=)
c.3960A>C (p.Gly1320=)
c.3891A>C (p.Gly1297=)
c.3759A>C (p.Gly1253=)
c.3627A>C (p.Gly1209=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436492A>GCA313926362ASXL1c.3780A>G (p.Gly1260=)
c.3597A>G (p.Gly1199=)
n.6133A>G
c.1869+1911A>G (n.1869+1911A>G)
c.3765A>G (p.Gly1255=)
c.3777A>G (p.Gly1259=)
c.3750A>G (p.Gly1250=)
c.3696A>G (p.Gly1232=)
c.3096A>G (p.Gly1032=)
c.4044A>G (p.Gly1348=)
c.4041A>G (p.Gly1347=)
c.3960A>G (p.Gly1320=)
c.3891A>G (p.Gly1297=)
c.3759A>G (p.Gly1253=)
c.3627A>G (p.Gly1209=)
 dbSNP gnomAD v2
20g.32436492A>TCA510467673ASXL1c.3780A>T (p.Gly1260=)
c.3597A>T (p.Gly1199=)
n.6133A>T
c.1869+1911A>T (n.1869+1911A>T)
c.3765A>T (p.Gly1255=)
c.3777A>T (p.Gly1259=)
c.3750A>T (p.Gly1250=)
c.3696A>T (p.Gly1232=)
c.3096A>T (p.Gly1032=)
c.4044A>T (p.Gly1348=)
c.4041A>T (p.Gly1347=)
c.3960A>T (p.Gly1320=)
c.3891A>T (p.Gly1297=)
c.3759A>T (p.Gly1253=)
c.3627A>T (p.Gly1209=)
 gnomAD v4
20g.32436493A=CA2360293733ASXL1c.3781A= (p.Lys1261=)
c.3598A= (p.Lys1200=)
n.6134A=
c.1869+1912A= (n.1869+1912A=)
c.3766A= (p.Lys1256=)
c.3778A= (p.Lys1260=)
c.3751A= (p.Lys1251=)
c.3697A= (p.Lys1233=)
c.3097A= (p.Lys1033=)
c.4045A= (p.Lys1349=)
c.4042A= (p.Lys1348=)
c.3961A= (p.Lys1321=)
c.3892A= (p.Lys1298=)
c.3760A= (p.Lys1254=)
c.3628A= (p.Lys1210=)
20g.32436493A>CCA408563788ASXL1c.3781A>C (p.Lys1261Gln)
c.3598A>C (p.Lys1200Gln)
n.6134A>C
c.1869+1912A>C (n.1869+1912A>C)
c.3766A>C (p.Lys1256Gln)
c.3778A>C (p.Lys1260Gln)
c.3751A>C (p.Lys1251Gln)
c.3697A>C (p.Lys1233Gln)
c.3097A>C (p.Lys1033Gln)
c.4045A>C (p.Lys1349Gln)
c.4042A>C (p.Lys1348Gln)
c.3961A>C (p.Lys1321Gln)
c.3892A>C (p.Lys1298Gln)
c.3760A>C (p.Lys1254Gln)
c.3628A>C (p.Lys1210Gln)
20g.32436493A>GCA408563789ASXL1c.3781A>G (p.Lys1261Glu)
c.3598A>G (p.Lys1200Glu)
n.6134A>G
c.1869+1912A>G (n.1869+1912A>G)
c.3766A>G (p.Lys1256Glu)
c.3778A>G (p.Lys1260Glu)
c.3751A>G (p.Lys1251Glu)
c.3697A>G (p.Lys1233Glu)
c.3097A>G (p.Lys1033Glu)
c.4045A>G (p.Lys1349Glu)
c.4042A>G (p.Lys1348Glu)
c.3961A>G (p.Lys1321Glu)
c.3892A>G (p.Lys1298Glu)
c.3760A>G (p.Lys1254Glu)
c.3628A>G (p.Lys1210Glu)
 dbSNP
20g.32436493A>TCA408563790ASXL1c.3781A>T (p.Lys1261Ter)
c.3598A>T (p.Lys1200Ter)
n.6134A>T
c.1869+1912A>T (n.1869+1912A>T)
c.3766A>T (p.Lys1256Ter)
c.3778A>T (p.Lys1260Ter)
c.3751A>T (p.Lys1251Ter)
c.3697A>T (p.Lys1233Ter)
c.3097A>T (p.Lys1033Ter)
c.4045A>T (p.Lys1349Ter)
c.4042A>T (p.Lys1348Ter)
c.3961A>T (p.Lys1321Ter)
c.3892A>T (p.Lys1298Ter)
c.3760A>T (p.Lys1254Ter)
c.3628A>T (p.Lys1210Ter)
20g.32436493_32436495delinsAAGCA2360293734ASXL1c.3781_3783delinsAAG (p.Lys1261=)
c.3598_3600delinsAAG (p.Lys1200=)
n.6134_6136delinsAAG
c.1869+1912_1869+1914delinsAAG (n.1869+1912_1869+1914delinsAAG)
c.3766_3768delinsAAG (p.Lys1256=)
c.3778_3780delinsAAG (p.Lys1260=)
c.3751_3753delinsAAG (p.Lys1251=)
c.3697_3699delinsAAG (p.Lys1233=)
c.3097_3099delinsAAG (p.Lys1033=)
c.4045_4047delinsAAG (p.Lys1349=)
c.4042_4044delinsAAG (p.Lys1348=)
c.3961_3963delinsAAG (p.Lys1321=)
c.3892_3894delinsAAG (p.Lys1298=)
c.3760_3762delinsAAG (p.Lys1254=)
c.3628_3630delinsAAG (p.Lys1210=)
20g.32436494A=CA2360293736ASXL1c.3782A= (p.Lys1261=)
c.3599A= (p.Lys1200=)
n.6135A=
c.1869+1913A= (n.1869+1913A=)
c.3767A= (p.Lys1256=)
c.3779A= (p.Lys1260=)
c.3752A= (p.Lys1251=)
c.3698A= (p.Lys1233=)
c.3098A= (p.Lys1033=)
c.4046A= (p.Lys1349=)
c.4043A= (p.Lys1348=)
c.3962A= (p.Lys1321=)
c.3893A= (p.Lys1298=)
c.3761A= (p.Lys1254=)
c.3629A= (p.Lys1210=)
20g.32436494A>CCA408563791ASXL1c.3782A>C (p.Lys1261Thr)
c.3599A>C (p.Lys1200Thr)
n.6135A>C
c.1869+1913A>C (n.1869+1913A>C)
c.3767A>C (p.Lys1256Thr)
c.3779A>C (p.Lys1260Thr)
c.3752A>C (p.Lys1251Thr)
c.3698A>C (p.Lys1233Thr)
c.3098A>C (p.Lys1033Thr)
c.4046A>C (p.Lys1349Thr)
c.4043A>C (p.Lys1348Thr)
c.3962A>C (p.Lys1321Thr)
c.3893A>C (p.Lys1298Thr)
c.3761A>C (p.Lys1254Thr)
c.3629A>C (p.Lys1210Thr)
20g.32436494A>GCA9808899ASXL1c.3782A>G (p.Lys1261Arg)
c.3599A>G (p.Lys1200Arg)
n.6135A>G
c.1869+1913A>G (n.1869+1913A>G)
c.3767A>G (p.Lys1256Arg)
c.3779A>G (p.Lys1260Arg)
c.3752A>G (p.Lys1251Arg)
c.3698A>G (p.Lys1233Arg)
c.3098A>G (p.Lys1033Arg)
c.4046A>G (p.Lys1349Arg)
c.4043A>G (p.Lys1348Arg)
c.3962A>G (p.Lys1321Arg)
c.3893A>G (p.Lys1298Arg)
c.3761A>G (p.Lys1254Arg)
c.3629A>G (p.Lys1210Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436494A>TCA408563792ASXL1c.3782A>T (p.Lys1261Met)
c.3599A>T (p.Lys1200Met)
n.6135A>T
c.1869+1913A>T (n.1869+1913A>T)
c.3767A>T (p.Lys1256Met)
c.3779A>T (p.Lys1260Met)
c.3752A>T (p.Lys1251Met)
c.3698A>T (p.Lys1233Met)
c.3098A>T (p.Lys1033Met)
c.4046A>T (p.Lys1349Met)
c.4043A>T (p.Lys1348Met)
c.3962A>T (p.Lys1321Met)
c.3893A>T (p.Lys1298Met)
c.3761A>T (p.Lys1254Met)
c.3629A>T (p.Lys1210Met)
20g.32436496_32436497delCA2360293735ASXL1c.3784_3785del (p.Ser1262ProfsTer?)
c.3601_3602del (p.Ser1201ProfsTer?)
n.6137_6138del
c.1869+1915_1869+1916del (n.1869+1915_1869+1916del)
c.3769_3770del (p.Ser1257ProfsTer?)
c.3781_3782del (p.Ser1261ProfsTer?)
c.3754_3755del (p.Ser1252ProfsTer?)
c.3700_3701del (p.Ser1234ProfsTer?)
c.3100_3101del (p.Ser1034ProfsTer?)
c.4048_4049del (p.Ser1350ProfsTer?)
c.4045_4046del (p.Ser1349ProfsTer?)
c.3964_3965del (p.Ser1322ProfsTer?)
c.3895_3896del (p.Ser1299ProfsTer?)
c.3763_3764del (p.Ser1255ProfsTer?)
c.3631_3632del (p.Ser1211ProfsTer?)
 dbSNP
20g.32436495G>ACA510467677ASXL1c.3783G>A (p.Lys1261=)
c.3600G>A (p.Lys1200=)
n.6136G>A
c.1869+1914G>A (n.1869+1914G>A)
c.3768G>A (p.Lys1256=)
c.3780G>A (p.Lys1260=)
c.3753G>A (p.Lys1251=)
c.3699G>A (p.Lys1233=)
c.3099G>A (p.Lys1033=)
c.4047G>A (p.Lys1349=)
c.4044G>A (p.Lys1348=)
c.3963G>A (p.Lys1321=)
c.3894G>A (p.Lys1298=)
c.3762G>A (p.Lys1254=)
c.3630G>A (p.Lys1210=)
20g.32436495G>CCA408563793ASXL1c.3783G>C (p.Lys1261Asn)
c.3600G>C (p.Lys1200Asn)
n.6136G>C
c.1869+1914G>C (n.1869+1914G>C)
c.3768G>C (p.Lys1256Asn)
c.3780G>C (p.Lys1260Asn)
c.3753G>C (p.Lys1251Asn)
c.3699G>C (p.Lys1233Asn)
c.3099G>C (p.Lys1033Asn)
c.4047G>C (p.Lys1349Asn)
c.4044G>C (p.Lys1348Asn)
c.3963G>C (p.Lys1321Asn)
c.3894G>C (p.Lys1298Asn)
c.3762G>C (p.Lys1254Asn)
c.3630G>C (p.Lys1210Asn)
 gnomAD v4
20g.32436495G>TCA408563794ASXL1c.3783G>T (p.Lys1261Asn)
c.3600G>T (p.Lys1200Asn)
n.6136G>T
c.1869+1914G>T (n.1869+1914G>T)
c.3768G>T (p.Lys1256Asn)
c.3780G>T (p.Lys1260Asn)
c.3753G>T (p.Lys1251Asn)
c.3699G>T (p.Lys1233Asn)
c.3099G>T (p.Lys1033Asn)
c.4047G>T (p.Lys1349Asn)
c.4044G>T (p.Lys1348Asn)
c.3963G>T (p.Lys1321Asn)
c.3894G>T (p.Lys1298Asn)
c.3762G>T (p.Lys1254Asn)
c.3630G>T (p.Lys1210Asn)
20g.32436496A>CCA408563795ASXL1c.3784A>C (p.Ser1262Arg)
c.3601A>C (p.Ser1201Arg)
n.6137A>C
c.1869+1915A>C (n.1869+1915A>C)
c.3769A>C (p.Ser1257Arg)
c.3781A>C (p.Ser1261Arg)
c.3754A>C (p.Ser1252Arg)
c.3700A>C (p.Ser1234Arg)
c.3100A>C (p.Ser1034Arg)
c.4048A>C (p.Ser1350Arg)
c.4045A>C (p.Ser1349Arg)
c.3964A>C (p.Ser1322Arg)
c.3895A>C (p.Ser1299Arg)
c.3763A>C (p.Ser1255Arg)
c.3631A>C (p.Ser1211Arg)
20g.32436496A>GCA408563797ASXL1c.3784A>G (p.Ser1262Gly)
c.3601A>G (p.Ser1201Gly)
n.6137A>G
c.1869+1915A>G (n.1869+1915A>G)
c.3769A>G (p.Ser1257Gly)
c.3781A>G (p.Ser1261Gly)
c.3754A>G (p.Ser1252Gly)
c.3700A>G (p.Ser1234Gly)
c.3100A>G (p.Ser1034Gly)
c.4048A>G (p.Ser1350Gly)
c.4045A>G (p.Ser1349Gly)
c.3964A>G (p.Ser1322Gly)
c.3895A>G (p.Ser1299Gly)
c.3763A>G (p.Ser1255Gly)
c.3631A>G (p.Ser1211Gly)
20g.32436496A>TCA408563796ASXL1c.3784A>T (p.Ser1262Cys)
c.3601A>T (p.Ser1201Cys)
n.6137A>T
c.1869+1915A>T (n.1869+1915A>T)
c.3769A>T (p.Ser1257Cys)
c.3781A>T (p.Ser1261Cys)
c.3754A>T (p.Ser1252Cys)
c.3700A>T (p.Ser1234Cys)
c.3100A>T (p.Ser1034Cys)
c.4048A>T (p.Ser1350Cys)
c.4045A>T (p.Ser1349Cys)
c.3964A>T (p.Ser1322Cys)
c.3895A>T (p.Ser1299Cys)
c.3763A>T (p.Ser1255Cys)
c.3631A>T (p.Ser1211Cys)
20g.32436497G>ACA408563798ASXL1c.3785G>A (p.Ser1262Asn)
c.3602G>A (p.Ser1201Asn)
n.6138G>A
c.1869+1916G>A (n.1869+1916G>A)
c.3770G>A (p.Ser1257Asn)
c.3782G>A (p.Ser1261Asn)
c.3755G>A (p.Ser1252Asn)
c.3701G>A (p.Ser1234Asn)
c.3101G>A (p.Ser1034Asn)
c.4049G>A (p.Ser1350Asn)
c.4046G>A (p.Ser1349Asn)
c.3965G>A (p.Ser1322Asn)
c.3896G>A (p.Ser1299Asn)
c.3764G>A (p.Ser1255Asn)
c.3632G>A (p.Ser1211Asn)
20g.32436497G>CCA408563800ASXL1c.3785G>C (p.Ser1262Thr)
c.3602G>C (p.Ser1201Thr)
n.6138G>C
c.1869+1916G>C (n.1869+1916G>C)
c.3770G>C (p.Ser1257Thr)
c.3782G>C (p.Ser1261Thr)
c.3755G>C (p.Ser1252Thr)
c.3701G>C (p.Ser1234Thr)
c.3101G>C (p.Ser1034Thr)
c.4049G>C (p.Ser1350Thr)
c.4046G>C (p.Ser1349Thr)
c.3965G>C (p.Ser1322Thr)
c.3896G>C (p.Ser1299Thr)
c.3764G>C (p.Ser1255Thr)
c.3632G>C (p.Ser1211Thr)
 dbSNP gnomAD v4
20g.32436497G=CA2360293737ASXL1c.3785G= (p.Ser1262=)
c.3602G= (p.Ser1201=)
n.6138G=
c.1869+1916G= (n.1869+1916G=)
c.3770G= (p.Ser1257=)
c.3782G= (p.Ser1261=)
c.3755G= (p.Ser1252=)
c.3701G= (p.Ser1234=)
c.3101G= (p.Ser1034=)
c.4049G= (p.Ser1350=)
c.4046G= (p.Ser1349=)
c.3965G= (p.Ser1322=)
c.3896G= (p.Ser1299=)
c.3764G= (p.Ser1255=)
c.3632G= (p.Ser1211=)
20g.32436497G>TCA408563799ASXL1c.3785G>T (p.Ser1262Ile)
c.3602G>T (p.Ser1201Ile)
n.6138G>T
c.1869+1916G>T (n.1869+1916G>T)
c.3770G>T (p.Ser1257Ile)
c.3782G>T (p.Ser1261Ile)
c.3755G>T (p.Ser1252Ile)
c.3701G>T (p.Ser1234Ile)
c.3101G>T (p.Ser1034Ile)
c.4049G>T (p.Ser1350Ile)
c.4046G>T (p.Ser1349Ile)
c.3965G>T (p.Ser1322Ile)
c.3896G>T (p.Ser1299Ile)
c.3764G>T (p.Ser1255Ile)
c.3632G>T (p.Ser1211Ile)
 ClinVar dbSNP gnomAD v4
20g.32436498C>ACA408563801ASXL1c.3786C>A (p.Ser1262Arg)
c.3603C>A (p.Ser1201Arg)
n.6139C>A
c.1869+1917C>A (n.1869+1917C>A)
c.3771C>A (p.Ser1257Arg)
c.3783C>A (p.Ser1261Arg)
c.3756C>A (p.Ser1252Arg)
c.3702C>A (p.Ser1234Arg)
c.3102C>A (p.Ser1034Arg)
c.4050C>A (p.Ser1350Arg)
c.4047C>A (p.Ser1349Arg)
c.3966C>A (p.Ser1322Arg)
c.3897C>A (p.Ser1299Arg)
c.3765C>A (p.Ser1255Arg)
c.3633C>A (p.Ser1211Arg)
20g.32436498C=CA2360293738ASXL1c.3786C= (p.Ser1262=)
c.3603C= (p.Ser1201=)
n.6139C=
c.1869+1917C= (n.1869+1917C=)
c.3771C= (p.Ser1257=)
c.3783C= (p.Ser1261=)
c.3756C= (p.Ser1252=)
c.3702C= (p.Ser1234=)
c.3102C= (p.Ser1034=)
c.4050C= (p.Ser1350=)
c.4047C= (p.Ser1349=)
c.3966C= (p.Ser1322=)
c.3897C= (p.Ser1299=)
c.3765C= (p.Ser1255=)
c.3633C= (p.Ser1211=)
20g.32436498C>GCA408563802ASXL1c.3786C>G (p.Ser1262Arg)
c.3603C>G (p.Ser1201Arg)
n.6139C>G
c.1869+1917C>G (n.1869+1917C>G)
c.3771C>G (p.Ser1257Arg)
c.3783C>G (p.Ser1261Arg)
c.3756C>G (p.Ser1252Arg)
c.3702C>G (p.Ser1234Arg)
c.3102C>G (p.Ser1034Arg)
c.4050C>G (p.Ser1350Arg)
c.4047C>G (p.Ser1349Arg)
c.3966C>G (p.Ser1322Arg)
c.3897C>G (p.Ser1299Arg)
c.3765C>G (p.Ser1255Arg)
c.3633C>G (p.Ser1211Arg)
 dbSNP
20g.32436498C>TCA9808900ASXL1c.3786C>T (p.Ser1262=)
c.3603C>T (p.Ser1201=)
n.6139C>T
c.1869+1917C>T (n.1869+1917C>T)
c.3771C>T (p.Ser1257=)
c.3783C>T (p.Ser1261=)
c.3756C>T (p.Ser1252=)
c.3702C>T (p.Ser1234=)
c.3102C>T (p.Ser1034=)
c.4050C>T (p.Ser1350=)
c.4047C>T (p.Ser1349=)
c.3966C>T (p.Ser1322=)
c.3897C>T (p.Ser1299=)
c.3765C>T (p.Ser1255=)
c.3633C>T (p.Ser1211=)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.32436500delCA510467680ASXL1c.3788del (p.Pro1263GlnfsTer17)
c.3605del (p.Pro1202GlnfsTer17)
n.6141del
c.1869+1919del (n.1869+1919del)
c.3773del (p.Pro1258GlnfsTer17)
c.3785del (p.Pro1262GlnfsTer17)
c.3758del (p.Pro1253GlnfsTer17)
c.3704del (p.Pro1235GlnfsTer17)
c.3104del (p.Pro1035GlnfsTer17)
c.4052del (p.Pro1351GlnfsTer17)
c.4049del (p.Pro1350GlnfsTer17)
c.3968del (p.Pro1323GlnfsTer17)
c.3899del (p.Pro1300GlnfsTer17)
c.3767del (p.Pro1256GlnfsTer17)
c.3635del (p.Pro1212GlnfsTer17)
 COSMIC
20g.32436499C>ACA408563803ASXL1c.3787C>A (p.Pro1263Thr)
c.3604C>A (p.Pro1202Thr)
n.6140C>A
c.1869+1918C>A (n.1869+1918C>A)
c.3772C>A (p.Pro1258Thr)
c.3784C>A (p.Pro1262Thr)
c.3757C>A (p.Pro1253Thr)
c.3703C>A (p.Pro1235Thr)
c.3103C>A (p.Pro1035Thr)
c.4051C>A (p.Pro1351Thr)
c.4048C>A (p.Pro1350Thr)
c.3967C>A (p.Pro1323Thr)
c.3898C>A (p.Pro1300Thr)
c.3766C>A (p.Pro1256Thr)
c.3634C>A (p.Pro1212Thr)
20g.32436499C>GCA408563804ASXL1c.3787C>G (p.Pro1263Ala)
c.3604C>G (p.Pro1202Ala)
n.6140C>G
c.1869+1918C>G (n.1869+1918C>G)
c.3772C>G (p.Pro1258Ala)
c.3784C>G (p.Pro1262Ala)
c.3757C>G (p.Pro1253Ala)
c.3703C>G (p.Pro1235Ala)
c.3103C>G (p.Pro1035Ala)
c.4051C>G (p.Pro1351Ala)
c.4048C>G (p.Pro1350Ala)
c.3967C>G (p.Pro1323Ala)
c.3898C>G (p.Pro1300Ala)
c.3766C>G (p.Pro1256Ala)
c.3634C>G (p.Pro1212Ala)
20g.32436499C>TCA408563805ASXL1c.3787C>T (p.Pro1263Ser)
c.3604C>T (p.Pro1202Ser)
n.6140C>T
c.1869+1918C>T (n.1869+1918C>T)
c.3772C>T (p.Pro1258Ser)
c.3784C>T (p.Pro1262Ser)
c.3757C>T (p.Pro1253Ser)
c.3703C>T (p.Pro1235Ser)
c.3103C>T (p.Pro1035Ser)
c.4051C>T (p.Pro1351Ser)
c.4048C>T (p.Pro1350Ser)
c.3967C>T (p.Pro1323Ser)
c.3898C>T (p.Pro1300Ser)
c.3766C>T (p.Pro1256Ser)
c.3634C>T (p.Pro1212Ser)
20g.32436500C>ACA408563806ASXL1c.3788C>A (p.Pro1263Gln)
c.3605C>A (p.Pro1202Gln)
n.6141C>A
c.1869+1919C>A (n.1869+1919C>A)
c.3773C>A (p.Pro1258Gln)
c.3785C>A (p.Pro1262Gln)
c.3758C>A (p.Pro1253Gln)
c.3704C>A (p.Pro1235Gln)
c.3104C>A (p.Pro1035Gln)
c.4052C>A (p.Pro1351Gln)
c.4049C>A (p.Pro1350Gln)
c.3968C>A (p.Pro1323Gln)
c.3899C>A (p.Pro1300Gln)
c.3767C>A (p.Pro1256Gln)
c.3635C>A (p.Pro1212Gln)
20g.32436500C>GCA408563807ASXL1c.3788C>G (p.Pro1263Arg)
c.3605C>G (p.Pro1202Arg)
n.6141C>G
c.1869+1919C>G (n.1869+1919C>G)
c.3773C>G (p.Pro1258Arg)
c.3785C>G (p.Pro1262Arg)
c.3758C>G (p.Pro1253Arg)
c.3704C>G (p.Pro1235Arg)
c.3104C>G (p.Pro1035Arg)
c.4052C>G (p.Pro1351Arg)
c.4049C>G (p.Pro1350Arg)
c.3968C>G (p.Pro1323Arg)
c.3899C>G (p.Pro1300Arg)
c.3767C>G (p.Pro1256Arg)
c.3635C>G (p.Pro1212Arg)
 gnomAD v4
20g.32436500C>TCA408563808ASXL1c.3788C>T (p.Pro1263Leu)
c.3605C>T (p.Pro1202Leu)
n.6141C>T
c.1869+1919C>T (n.1869+1919C>T)
c.3773C>T (p.Pro1258Leu)
c.3785C>T (p.Pro1262Leu)
c.3758C>T (p.Pro1253Leu)
c.3704C>T (p.Pro1235Leu)
c.3104C>T (p.Pro1035Leu)
c.4052C>T (p.Pro1351Leu)
c.4049C>T (p.Pro1350Leu)
c.3968C>T (p.Pro1323Leu)
c.3899C>T (p.Pro1300Leu)
c.3767C>T (p.Pro1256Leu)
c.3635C>T (p.Pro1212Leu)
 dbSNP
20g.32436500_32436503delinsCAGGCA2360293739ASXL1c.3788_3791delinsCAGG (p.Pro1263=)
c.3605_3608delinsCAGG (p.Pro1202=)
n.6141_6144delinsCAGG
c.1869+1919_1869+1922delinsCAGG (n.1869+1919_1869+1922delinsCAGG)
c.3773_3776delinsCAGG (p.Pro1258=)
c.3785_3788delinsCAGG (p.Pro1262=)
c.3758_3761delinsCAGG (p.Pro1253=)
c.3704_3707delinsCAGG (p.Pro1235=)
c.3104_3107delinsCAGG (p.Pro1035=)
c.4052_4055delinsCAGG (p.Pro1351=)
c.4049_4052delinsCAGG (p.Pro1350=)
c.3968_3971delinsCAGG (p.Pro1323=)
c.3899_3902delinsCAGG (p.Pro1300=)
c.3767_3770delinsCAGG (p.Pro1256=)
c.3635_3638delinsCAGG (p.Pro1212=)
20g.32436501A=CA2360293740ASXL1c.3789A= (p.Pro1263=)
c.3606A= (p.Pro1202=)
n.6142A=
c.1869+1920A= (n.1869+1920A=)
c.3774A= (p.Pro1258=)
c.3786A= (p.Pro1262=)
c.3759A= (p.Pro1253=)
c.3705A= (p.Pro1235=)
c.3105A= (p.Pro1035=)
c.4053A= (p.Pro1351=)
c.4050A= (p.Pro1350=)
c.3969A= (p.Pro1323=)
c.3900A= (p.Pro1300=)
c.3768A= (p.Pro1256=)
c.3636A= (p.Pro1212=)
20g.32436501A>CCA510467681ASXL1c.3789A>C (p.Pro1263=)
c.3606A>C (p.Pro1202=)
n.6142A>C
c.1869+1920A>C (n.1869+1920A>C)
c.3774A>C (p.Pro1258=)
c.3786A>C (p.Pro1262=)
c.3759A>C (p.Pro1253=)
c.3705A>C (p.Pro1235=)
c.3105A>C (p.Pro1035=)
c.4053A>C (p.Pro1351=)
c.4050A>C (p.Pro1350=)
c.3969A>C (p.Pro1323=)
c.3900A>C (p.Pro1300=)
c.3768A>C (p.Pro1256=)
c.3636A>C (p.Pro1212=)
20g.32436501A>GCA9808901ASXL1c.3789A>G (p.Pro1263=)
c.3606A>G (p.Pro1202=)
n.6142A>G
c.1869+1920A>G (n.1869+1920A>G)
c.3774A>G (p.Pro1258=)
c.3786A>G (p.Pro1262=)
c.3759A>G (p.Pro1253=)
c.3705A>G (p.Pro1235=)
c.3105A>G (p.Pro1035=)
c.4053A>G (p.Pro1351=)
c.4050A>G (p.Pro1350=)
c.3969A>G (p.Pro1323=)
c.3900A>G (p.Pro1300=)
c.3768A>G (p.Pro1256=)
c.3636A>G (p.Pro1212=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436501A>TCA510467683ASXL1c.3789A>T (p.Pro1263=)
c.3606A>T (p.Pro1202=)
n.6142A>T
c.1869+1920A>T (n.1869+1920A>T)
c.3774A>T (p.Pro1258=)
c.3786A>T (p.Pro1262=)
c.3759A>T (p.Pro1253=)
c.3705A>T (p.Pro1235=)
c.3105A>T (p.Pro1035=)
c.4053A>T (p.Pro1351=)
c.4050A>T (p.Pro1350=)
c.3969A>T (p.Pro1323=)
c.3900A>T (p.Pro1300=)
c.3768A>T (p.Pro1256=)
c.3636A>T (p.Pro1212=)
20g.32436503_32436505delCA313926363ASXL1c.3791_3793del (p.Gly1264del)
c.3608_3610del (p.Gly1203del)
n.6144_6146del
c.1869+1922_1870-1925del (n.1869+1922_1870-1925del)
c.3776_3778del (p.Gly1259del)
c.3788_3790del (p.Gly1263del)
c.3761_3763del (p.Gly1254del)
c.3707_3709del (p.Gly1236del)
c.3107_3109del (p.Gly1036del)
c.4055_4057del (p.Gly1352del)
c.4052_4054del (p.Gly1351del)
c.3971_3973del (p.Gly1324del)
c.3902_3904del (p.Gly1301del)
c.3770_3772del (p.Gly1257del)
c.3638_3640del (p.Gly1213del)
 dbSNP
20g.32436502G>ACA9808902ASXL1c.3790G>A (p.Gly1264Arg)
c.3607G>A (p.Gly1203Arg)
n.6143G>A
c.1869+1921G>A (n.1869+1921G>A)
c.3775G>A (p.Gly1259Arg)
c.3787G>A (p.Gly1263Arg)
c.3760G>A (p.Gly1254Arg)
c.3706G>A (p.Gly1236Arg)
c.3106G>A (p.Gly1036Arg)
c.4054G>A (p.Gly1352Arg)
c.4051G>A (p.Gly1351Arg)
c.3970G>A (p.Gly1324Arg)
c.3901G>A (p.Gly1301Arg)
c.3769G>A (p.Gly1257Arg)
c.3637G>A (p.Gly1213Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436502G>CCA408563810ASXL1c.3790G>C (p.Gly1264Arg)
c.3607G>C (p.Gly1203Arg)
n.6143G>C
c.1869+1921G>C (n.1869+1921G>C)
c.3775G>C (p.Gly1259Arg)
c.3787G>C (p.Gly1263Arg)
c.3760G>C (p.Gly1254Arg)
c.3706G>C (p.Gly1236Arg)
c.3106G>C (p.Gly1036Arg)
c.4054G>C (p.Gly1352Arg)
c.4051G>C (p.Gly1351Arg)
c.3970G>C (p.Gly1324Arg)
c.3901G>C (p.Gly1301Arg)
c.3769G>C (p.Gly1257Arg)
c.3637G>C (p.Gly1213Arg)
20g.32436502G=CA2360293741ASXL1c.3790G= (p.Gly1264=)
c.3607G= (p.Gly1203=)
n.6143G=
c.1869+1921G= (n.1869+1921G=)
c.3775G= (p.Gly1259=)
c.3787G= (p.Gly1263=)
c.3760G= (p.Gly1254=)
c.3706G= (p.Gly1236=)
c.3106G= (p.Gly1036=)
c.4054G= (p.Gly1352=)
c.4051G= (p.Gly1351=)
c.3970G= (p.Gly1324=)
c.3901G= (p.Gly1301=)
c.3769G= (p.Gly1257=)
c.3637G= (p.Gly1213=)
20g.32436502G>TCA408563809ASXL1c.3790G>T (p.Gly1264Ter)
c.3607G>T (p.Gly1203Ter)
n.6143G>T
c.1869+1921G>T (n.1869+1921G>T)
c.3775G>T (p.Gly1259Ter)
c.3787G>T (p.Gly1263Ter)
c.3760G>T (p.Gly1254Ter)
c.3706G>T (p.Gly1236Ter)
c.3106G>T (p.Gly1036Ter)
c.4054G>T (p.Gly1352Ter)
c.4051G>T (p.Gly1351Ter)
c.3970G>T (p.Gly1324Ter)
c.3901G>T (p.Gly1301Ter)
c.3769G>T (p.Gly1257Ter)
c.3637G>T (p.Gly1213Ter)
20g.32436503delCA2577366322ASXL1c.3791del (p.Gly1264GlufsTer16)
c.3608del (p.Gly1203GlufsTer16)
n.6144del
c.1869+1922del (n.1869+1922del)
c.3776del (p.Gly1259GlufsTer16)
c.3788del (p.Gly1263GlufsTer16)
c.3761del (p.Gly1254GlufsTer16)
c.3707del (p.Gly1236GlufsTer16)
c.3107del (p.Gly1036GlufsTer16)
c.4055del (p.Gly1352GlufsTer16)
c.4052del (p.Gly1351GlufsTer16)
c.3971del (p.Gly1324GlufsTer16)
c.3902del (p.Gly1301GlufsTer16)
c.3770del (p.Gly1257GlufsTer16)
c.3638del (p.Gly1213GlufsTer16)
20g.32436503G>ACA408563811ASXL1c.3791G>A (p.Gly1264Glu)
c.3608G>A (p.Gly1203Glu)
n.6144G>A
c.1869+1922G>A (n.1869+1922G>A)
c.3776G>A (p.Gly1259Glu)
c.3788G>A (p.Gly1263Glu)
c.3761G>A (p.Gly1254Glu)
c.3707G>A (p.Gly1236Glu)
c.3107G>A (p.Gly1036Glu)
c.4055G>A (p.Gly1352Glu)
c.4052G>A (p.Gly1351Glu)
c.3971G>A (p.Gly1324Glu)
c.3902G>A (p.Gly1301Glu)
c.3770G>A (p.Gly1257Glu)
c.3638G>A (p.Gly1213Glu)
20g.32436503G>CCA408563812ASXL1c.3791G>C (p.Gly1264Ala)
c.3608G>C (p.Gly1203Ala)
n.6144G>C
c.1869+1922G>C (n.1869+1922G>C)
c.3776G>C (p.Gly1259Ala)
c.3788G>C (p.Gly1263Ala)
c.3761G>C (p.Gly1254Ala)
c.3707G>C (p.Gly1236Ala)
c.3107G>C (p.Gly1036Ala)
c.4055G>C (p.Gly1352Ala)
c.4052G>C (p.Gly1351Ala)
c.3971G>C (p.Gly1324Ala)
c.3902G>C (p.Gly1301Ala)
c.3770G>C (p.Gly1257Ala)
c.3638G>C (p.Gly1213Ala)
 dbSNP
20g.32436503G>TCA408563813ASXL1c.3791G>T (p.Gly1264Val)
c.3608G>T (p.Gly1203Val)
n.6144G>T
c.1869+1922G>T (n.1869+1922G>T)
c.3776G>T (p.Gly1259Val)
c.3788G>T (p.Gly1263Val)
c.3761G>T (p.Gly1254Val)
c.3707G>T (p.Gly1236Val)
c.3107G>T (p.Gly1036Val)
c.4055G>T (p.Gly1352Val)
c.4052G>T (p.Gly1351Val)
c.3971G>T (p.Gly1324Val)
c.3902G>T (p.Gly1301Val)
c.3770G>T (p.Gly1257Val)
c.3638G>T (p.Gly1213Val)
20g.32436504A>CCA510467687ASXL1c.3792A>C (p.Gly1264=)
c.3609A>C (p.Gly1203=)
n.6145A>C
c.1869+1923A>C (n.1869+1923A>C)
c.3777A>C (p.Gly1259=)
c.3789A>C (p.Gly1263=)
c.3762A>C (p.Gly1254=)
c.3708A>C (p.Gly1236=)
c.3108A>C (p.Gly1036=)
c.4056A>C (p.Gly1352=)
c.4053A>C (p.Gly1351=)
c.3972A>C (p.Gly1324=)
c.3903A>C (p.Gly1301=)
c.3771A>C (p.Gly1257=)
c.3639A>C (p.Gly1213=)
20g.32436504A>GCA510467685ASXL1c.3792A>G (p.Gly1264=)
c.3609A>G (p.Gly1203=)
n.6145A>G
c.1869+1923A>G (n.1869+1923A>G)
c.3777A>G (p.Gly1259=)
c.3789A>G (p.Gly1263=)
c.3762A>G (p.Gly1254=)
c.3708A>G (p.Gly1236=)
c.3108A>G (p.Gly1036=)
c.4056A>G (p.Gly1352=)
c.4053A>G (p.Gly1351=)
c.3972A>G (p.Gly1324=)
c.3903A>G (p.Gly1301=)
c.3771A>G (p.Gly1257=)
c.3639A>G (p.Gly1213=)
20g.32436504A>TCA510467684ASXL1c.3792A>T (p.Gly1264=)
c.3609A>T (p.Gly1203=)
n.6145A>T
c.1869+1923A>T (n.1869+1923A>T)
c.3777A>T (p.Gly1259=)
c.3789A>T (p.Gly1263=)
c.3762A>T (p.Gly1254=)
c.3708A>T (p.Gly1236=)
c.3108A>T (p.Gly1036=)
c.4056A>T (p.Gly1352=)
c.4053A>T (p.Gly1351=)
c.3972A>T (p.Gly1324=)
c.3903A>T (p.Gly1301=)
c.3771A>T (p.Gly1257=)
c.3639A>T (p.Gly1213=)
20g.32436505G>ACA408563814ASXL1c.3793G>A (p.Asp1265Asn)
c.3610G>A (p.Asp1204Asn)
n.6146G>A
c.1870-1925G>A (n.1870-1925G>A)
c.3778G>A (p.Asp1260Asn)
c.3790G>A (p.Asp1264Asn)
c.3763G>A (p.Asp1255Asn)
c.3709G>A (p.Asp1237Asn)
c.3109G>A (p.Asp1037Asn)
c.4057G>A (p.Asp1353Asn)
c.4054G>A (p.Asp1352Asn)
c.3973G>A (p.Asp1325Asn)
c.3904G>A (p.Asp1302Asn)
c.3772G>A (p.Asp1258Asn)
c.3640G>A (p.Asp1214Asn)
 dbSNP
20g.32436505G>CCA408563815ASXL1c.3793G>C (p.Asp1265His)
c.3610G>C (p.Asp1204His)
n.6146G>C
c.1870-1925G>C (n.1870-1925G>C)
c.3778G>C (p.Asp1260His)
c.3790G>C (p.Asp1264His)
c.3763G>C (p.Asp1255His)
c.3709G>C (p.Asp1237His)
c.3109G>C (p.Asp1037His)
c.4057G>C (p.Asp1353His)
c.4054G>C (p.Asp1352His)
c.3973G>C (p.Asp1325His)
c.3904G>C (p.Asp1302His)
c.3772G>C (p.Asp1258His)
c.3640G>C (p.Asp1214His)
20g.32436505G=CA2360293742ASXL1c.3793G= (p.Asp1265=)
c.3610G= (p.Asp1204=)
n.6146G=
c.1870-1925G= (n.1870-1925G=)
c.3778G= (p.Asp1260=)
c.3790G= (p.Asp1264=)
c.3763G= (p.Asp1255=)
c.3709G= (p.Asp1237=)
c.3109G= (p.Asp1037=)
c.4057G= (p.Asp1353=)
c.4054G= (p.Asp1352=)
c.3973G= (p.Asp1325=)
c.3904G= (p.Asp1302=)
c.3772G= (p.Asp1258=)
c.3640G= (p.Asp1214=)
20g.32436505G>TCA9808903ASXL1c.3793G>T (p.Asp1265Tyr)
c.3610G>T (p.Asp1204Tyr)
n.6146G>T
c.1870-1925G>T (n.1870-1925G>T)
c.3778G>T (p.Asp1260Tyr)
c.3790G>T (p.Asp1264Tyr)
c.3763G>T (p.Asp1255Tyr)
c.3709G>T (p.Asp1237Tyr)
c.3109G>T (p.Asp1037Tyr)
c.4057G>T (p.Asp1353Tyr)
c.4054G>T (p.Asp1352Tyr)
c.3973G>T (p.Asp1325Tyr)
c.3904G>T (p.Asp1302Tyr)
c.3772G>T (p.Asp1258Tyr)
c.3640G>T (p.Asp1214Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436506A>CCA408563816ASXL1c.3794A>C (p.Asp1265Ala)
c.3611A>C (p.Asp1204Ala)
n.6147A>C
c.1870-1924A>C (n.1870-1924A>C)
c.3779A>C (p.Asp1260Ala)
c.3791A>C (p.Asp1264Ala)
c.3764A>C (p.Asp1255Ala)
c.3710A>C (p.Asp1237Ala)
c.3110A>C (p.Asp1037Ala)
c.4058A>C (p.Asp1353Ala)
c.4055A>C (p.Asp1352Ala)
c.3974A>C (p.Asp1325Ala)
c.3905A>C (p.Asp1302Ala)
c.3773A>C (p.Asp1258Ala)
c.3641A>C (p.Asp1214Ala)
20g.32436506A>GCA408563817ASXL1c.3794A>G (p.Asp1265Gly)
c.3611A>G (p.Asp1204Gly)
n.6147A>G
c.1870-1924A>G (n.1870-1924A>G)
c.3779A>G (p.Asp1260Gly)
c.3791A>G (p.Asp1264Gly)
c.3764A>G (p.Asp1255Gly)
c.3710A>G (p.Asp1237Gly)
c.3110A>G (p.Asp1037Gly)
c.4058A>G (p.Asp1353Gly)
c.4055A>G (p.Asp1352Gly)
c.3974A>G (p.Asp1325Gly)
c.3905A>G (p.Asp1302Gly)
c.3773A>G (p.Asp1258Gly)
c.3641A>G (p.Asp1214Gly)
 gnomAD v4
20g.32436506A>TCA408563818ASXL1c.3794A>T (p.Asp1265Val)
c.3611A>T (p.Asp1204Val)
n.6147A>T
c.1870-1924A>T (n.1870-1924A>T)
c.3779A>T (p.Asp1260Val)
c.3791A>T (p.Asp1264Val)
c.3764A>T (p.Asp1255Val)
c.3710A>T (p.Asp1237Val)
c.3110A>T (p.Asp1037Val)
c.4058A>T (p.Asp1353Val)
c.4055A>T (p.Asp1352Val)
c.3974A>T (p.Asp1325Val)
c.3905A>T (p.Asp1302Val)
c.3773A>T (p.Asp1258Val)
c.3641A>T (p.Asp1214Val)
20g.32436507T>ACA408563819ASXL1c.3795T>A (p.Asp1265Glu)
c.3612T>A (p.Asp1204Glu)
n.6148T>A
c.1870-1923T>A (n.1870-1923T>A)
c.3780T>A (p.Asp1260Glu)
c.3792T>A (p.Asp1264Glu)
c.3765T>A (p.Asp1255Glu)
c.3711T>A (p.Asp1237Glu)
c.3111T>A (p.Asp1037Glu)
c.4059T>A (p.Asp1353Glu)
c.4056T>A (p.Asp1352Glu)
c.3975T>A (p.Asp1325Glu)
c.3906T>A (p.Asp1302Glu)
c.3774T>A (p.Asp1258Glu)
c.3642T>A (p.Asp1214Glu)
20g.32436507T>CCA510467691ASXL1c.3795T>C (p.Asp1265=)
c.3612T>C (p.Asp1204=)
n.6148T>C
c.1870-1923T>C (n.1870-1923T>C)
c.3780T>C (p.Asp1260=)
c.3792T>C (p.Asp1264=)
c.3765T>C (p.Asp1255=)
c.3711T>C (p.Asp1237=)
c.3111T>C (p.Asp1037=)
c.4059T>C (p.Asp1353=)
c.4056T>C (p.Asp1352=)
c.3975T>C (p.Asp1325=)
c.3906T>C (p.Asp1302=)
c.3774T>C (p.Asp1258=)
c.3642T>C (p.Asp1214=)
20g.32436507T>GCA408563820ASXL1c.3795T>G (p.Asp1265Glu)
c.3612T>G (p.Asp1204Glu)
n.6148T>G
c.1870-1923T>G (n.1870-1923T>G)
c.3780T>G (p.Asp1260Glu)
c.3792T>G (p.Asp1264Glu)
c.3765T>G (p.Asp1255Glu)
c.3711T>G (p.Asp1237Glu)
c.3111T>G (p.Asp1037Glu)
c.4059T>G (p.Asp1353Glu)
c.4056T>G (p.Asp1352Glu)
c.3975T>G (p.Asp1325Glu)
c.3906T>G (p.Asp1302Glu)
c.3774T>G (p.Asp1258Glu)
c.3642T>G (p.Asp1214Glu)
20g.32436508C>ACA408563822ASXL1c.3796C>A (p.Leu1266Ile)
c.3613C>A (p.Leu1205Ile)
n.6149C>A
c.1870-1922C>A (n.1870-1922C>A)
c.3781C>A (p.Leu1261Ile)
c.3793C>A (p.Leu1265Ile)
c.3766C>A (p.Leu1256Ile)
c.3712C>A (p.Leu1238Ile)
c.3112C>A (p.Leu1038Ile)
c.4060C>A (p.Leu1354Ile)
c.4057C>A (p.Leu1353Ile)
c.3976C>A (p.Leu1326Ile)
c.3907C>A (p.Leu1303Ile)
c.3775C>A (p.Leu1259Ile)
c.3643C>A (p.Leu1215Ile)
 gnomAD v4
20g.32436508C=CA2360293743ASXL1c.3796C= (p.Leu1266=)
c.3613C= (p.Leu1205=)
n.6149C=
c.1870-1922C= (n.1870-1922C=)
c.3781C= (p.Leu1261=)
c.3793C= (p.Leu1265=)
c.3766C= (p.Leu1256=)
c.3712C= (p.Leu1238=)
c.3112C= (p.Leu1038=)
c.4060C= (p.Leu1354=)
c.4057C= (p.Leu1353=)
c.3976C= (p.Leu1326=)
c.3907C= (p.Leu1303=)
c.3775C= (p.Leu1259=)
c.3643C= (p.Leu1215=)
20g.32436508C>GCA9808904ASXL1c.3796C>G (p.Leu1266Val)
c.3613C>G (p.Leu1205Val)
n.6149C>G
c.1870-1922C>G (n.1870-1922C>G)
c.3781C>G (p.Leu1261Val)
c.3793C>G (p.Leu1265Val)
c.3766C>G (p.Leu1256Val)
c.3712C>G (p.Leu1238Val)
c.3112C>G (p.Leu1038Val)
c.4060C>G (p.Leu1354Val)
c.4057C>G (p.Leu1353Val)
c.3976C>G (p.Leu1326Val)
c.3907C>G (p.Leu1303Val)
c.3775C>G (p.Leu1259Val)
c.3643C>G (p.Leu1215Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436508C>TCA408563821ASXL1c.3796C>T (p.Leu1266Phe)
c.3613C>T (p.Leu1205Phe)
n.6149C>T
c.1870-1922C>T (n.1870-1922C>T)
c.3781C>T (p.Leu1261Phe)
c.3793C>T (p.Leu1265Phe)
c.3766C>T (p.Leu1256Phe)
c.3712C>T (p.Leu1238Phe)
c.3112C>T (p.Leu1038Phe)
c.4060C>T (p.Leu1354Phe)
c.4057C>T (p.Leu1353Phe)
c.3976C>T (p.Leu1326Phe)
c.3907C>T (p.Leu1303Phe)
c.3775C>T (p.Leu1259Phe)
c.3643C>T (p.Leu1215Phe)
 ClinVar
20g.32436509_32436524delCA645612971ASXL1c.3797_3812del (p.Leu1266HisfsTer9)
c.3614_3629del (p.Leu1205HisfsTer9)
n.6150_6165del
c.1870-1921_1870-1906del (n.1870-1921_1870-1906del)
c.3782_3797del (p.Leu1261HisfsTer9)
c.3794_3809del (p.Leu1265HisfsTer9)
c.3767_3782del (p.Leu1256HisfsTer9)
c.3713_3728del (p.Leu1238HisfsTer9)
c.3113_3128del (p.Leu1038HisfsTer9)
c.4061_4076del (p.Leu1354HisfsTer9)
c.4058_4073del (p.Leu1353HisfsTer9)
c.3977_3992del (p.Leu1326HisfsTer9)
c.3908_3923del (p.Leu1303HisfsTer9)
c.3776_3791del (p.Leu1259HisfsTer9)
c.3644_3659del (p.Leu1215HisfsTer9)
 COSMIC
20g.32436509T>ACA408563823ASXL1c.3797T>A (p.Leu1266His)
c.3614T>A (p.Leu1205His)
n.6150T>A
c.1870-1921T>A (n.1870-1921T>A)
c.3782T>A (p.Leu1261His)
c.3794T>A (p.Leu1265His)
c.3767T>A (p.Leu1256His)
c.3713T>A (p.Leu1238His)
c.3113T>A (p.Leu1038His)
c.4061T>A (p.Leu1354His)
c.4058T>A (p.Leu1353His)
c.3977T>A (p.Leu1326His)
c.3908T>A (p.Leu1303His)
c.3776T>A (p.Leu1259His)
c.3644T>A (p.Leu1215His)
20g.32436509T>CCA408563824ASXL1c.3797T>C (p.Leu1266Pro)
c.3614T>C (p.Leu1205Pro)
n.6150T>C
c.1870-1921T>C (n.1870-1921T>C)
c.3782T>C (p.Leu1261Pro)
c.3794T>C (p.Leu1265Pro)
c.3767T>C (p.Leu1256Pro)
c.3713T>C (p.Leu1238Pro)
c.3113T>C (p.Leu1038Pro)
c.4061T>C (p.Leu1354Pro)
c.4058T>C (p.Leu1353Pro)
c.3977T>C (p.Leu1326Pro)
c.3908T>C (p.Leu1303Pro)
c.3776T>C (p.Leu1259Pro)
c.3644T>C (p.Leu1215Pro)
20g.32436509T>GCA408563825ASXL1c.3797T>G (p.Leu1266Arg)
c.3614T>G (p.Leu1205Arg)
n.6150T>G
c.1870-1921T>G (n.1870-1921T>G)
c.3782T>G (p.Leu1261Arg)
c.3794T>G (p.Leu1265Arg)
c.3767T>G (p.Leu1256Arg)
c.3713T>G (p.Leu1238Arg)
c.3113T>G (p.Leu1038Arg)
c.4061T>G (p.Leu1354Arg)
c.4058T>G (p.Leu1353Arg)
c.3977T>G (p.Leu1326Arg)
c.3908T>G (p.Leu1303Arg)
c.3776T>G (p.Leu1259Arg)
c.3644T>G (p.Leu1215Arg)
20g.32436510delCA2652401247ASXL1c.3798del (p.Thr1267LeufsTer13)
c.3615del (p.Thr1206LeufsTer13)
n.6151del
c.1870-1920del (n.1870-1920del)
c.3783del (p.Thr1262LeufsTer13)
c.3795del (p.Thr1266LeufsTer13)
c.3768del (p.Thr1257LeufsTer13)
c.3714del (p.Thr1239LeufsTer13)
c.3114del (p.Thr1039LeufsTer13)
c.4062del (p.Thr1355LeufsTer13)
c.4059del (p.Thr1354LeufsTer13)
c.3978del (p.Thr1327LeufsTer13)
c.3909del (p.Thr1304LeufsTer13)
c.3777del (p.Thr1260LeufsTer13)
c.3645del (p.Thr1216LeufsTer13)
 gnomAD v4
20g.32436510T>ACA510467692ASXL1c.3798T>A (p.Leu1266=)
c.3615T>A (p.Leu1205=)
n.6151T>A
c.1870-1920T>A (n.1870-1920T>A)
c.3783T>A (p.Leu1261=)
c.3795T>A (p.Leu1265=)
c.3768T>A (p.Leu1256=)
c.3714T>A (p.Leu1238=)
c.3114T>A (p.Leu1038=)
c.4062T>A (p.Leu1354=)
c.4059T>A (p.Leu1353=)
c.3978T>A (p.Leu1326=)
c.3909T>A (p.Leu1303=)
c.3777T>A (p.Leu1259=)
c.3645T>A (p.Leu1215=)
20g.32436510T>CCA510467694ASXL1c.3798T>C (p.Leu1266=)
c.3615T>C (p.Leu1205=)
n.6151T>C
c.1870-1920T>C (n.1870-1920T>C)
c.3783T>C (p.Leu1261=)
c.3795T>C (p.Leu1265=)
c.3768T>C (p.Leu1256=)
c.3714T>C (p.Leu1238=)
c.3114T>C (p.Leu1038=)
c.4062T>C (p.Leu1354=)
c.4059T>C (p.Leu1353=)
c.3978T>C (p.Leu1326=)
c.3909T>C (p.Leu1303=)
c.3777T>C (p.Leu1259=)
c.3645T>C (p.Leu1215=)
20g.32436510T>GCA510467693ASXL1c.3798T>G (p.Leu1266=)
c.3615T>G (p.Leu1205=)
n.6151T>G
c.1870-1920T>G (n.1870-1920T>G)
c.3783T>G (p.Leu1261=)
c.3795T>G (p.Leu1265=)
c.3768T>G (p.Leu1256=)
c.3714T>G (p.Leu1238=)
c.3114T>G (p.Leu1038=)
c.4062T>G (p.Leu1354=)
c.4059T>G (p.Leu1353=)
c.3978T>G (p.Leu1326=)
c.3909T>G (p.Leu1303=)
c.3777T>G (p.Leu1259=)
c.3645T>G (p.Leu1215=)
20g.32436510T=CA2360293744ASXL1c.3798T= (p.Leu1266=)
c.3615T= (p.Leu1205=)
n.6151T=
c.1870-1920T= (n.1870-1920T=)
c.3783T= (p.Leu1261=)
c.3795T= (p.Leu1265=)
c.3768T= (p.Leu1256=)
c.3714T= (p.Leu1238=)
c.3114T= (p.Leu1038=)
c.4062T= (p.Leu1354=)
c.4059T= (p.Leu1353=)
c.3978T= (p.Leu1326=)
c.3909T= (p.Leu1303=)
c.3777T= (p.Leu1259=)
c.3645T= (p.Leu1215=)

Number of alleles fetched