Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436727G>ACA9808946ASXL1c.4015G>A (p.Gly1339Arg)
c.3832G>A (p.Gly1278Arg)
n.6368G>A
c.1870-1703G>A (n.1870-1703G>A)
c.4000G>A (p.Gly1334Arg)
c.4012G>A (p.Gly1338Arg)
c.3985G>A (p.Gly1329Arg)
c.3931G>A (p.Gly1311Arg)
c.3331G>A (p.Gly1111Arg)
c.4279G>A (p.Gly1427Arg)
c.4276G>A (p.Gly1426Arg)
c.4195G>A (p.Gly1399Arg)
c.4126G>A (p.Gly1376Arg)
c.3994G>A (p.Gly1332Arg)
c.3862G>A (p.Gly1288Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436727G>CCA408564264ASXL1c.4015G>C (p.Gly1339Arg)
c.3832G>C (p.Gly1278Arg)
n.6368G>C
c.1870-1703G>C (n.1870-1703G>C)
c.4000G>C (p.Gly1334Arg)
c.4012G>C (p.Gly1338Arg)
c.3985G>C (p.Gly1329Arg)
c.3931G>C (p.Gly1311Arg)
c.3331G>C (p.Gly1111Arg)
c.4279G>C (p.Gly1427Arg)
c.4276G>C (p.Gly1426Arg)
c.4195G>C (p.Gly1399Arg)
c.4126G>C (p.Gly1376Arg)
c.3994G>C (p.Gly1332Arg)
c.3862G>C (p.Gly1288Arg)
20g.32436727G=CA2360293834ASXL1c.4015G= (p.Gly1339=)
c.3832G= (p.Gly1278=)
n.6368G=
c.1870-1703G= (n.1870-1703G=)
c.4000G= (p.Gly1334=)
c.4012G= (p.Gly1338=)
c.3985G= (p.Gly1329=)
c.3931G= (p.Gly1311=)
c.3331G= (p.Gly1111=)
c.4279G= (p.Gly1427=)
c.4276G= (p.Gly1426=)
c.4195G= (p.Gly1399=)
c.4126G= (p.Gly1376=)
c.3994G= (p.Gly1332=)
c.3862G= (p.Gly1288=)
20g.32436727G>TCA408564263ASXL1c.4015G>T (p.Gly1339Ter)
c.3832G>T (p.Gly1278Ter)
n.6368G>T
c.1870-1703G>T (n.1870-1703G>T)
c.4000G>T (p.Gly1334Ter)
c.4012G>T (p.Gly1338Ter)
c.3985G>T (p.Gly1329Ter)
c.3931G>T (p.Gly1311Ter)
c.3331G>T (p.Gly1111Ter)
c.4279G>T (p.Gly1427Ter)
c.4276G>T (p.Gly1426Ter)
c.4195G>T (p.Gly1399Ter)
c.4126G>T (p.Gly1376Ter)
c.3994G>T (p.Gly1332Ter)
c.3862G>T (p.Gly1288Ter)
20g.32436728G>ACA9808947ASXL1c.4016G>A (p.Gly1339Glu)
c.3833G>A (p.Gly1278Glu)
n.6369G>A
c.1870-1702G>A (n.1870-1702G>A)
c.4001G>A (p.Gly1334Glu)
c.4013G>A (p.Gly1338Glu)
c.3986G>A (p.Gly1329Glu)
c.3932G>A (p.Gly1311Glu)
c.3332G>A (p.Gly1111Glu)
c.4280G>A (p.Gly1427Glu)
c.4277G>A (p.Gly1426Glu)
c.4196G>A (p.Gly1399Glu)
c.4127G>A (p.Gly1376Glu)
c.3995G>A (p.Gly1332Glu)
c.3863G>A (p.Gly1288Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.32436728G>CCA408564265ASXL1c.4016G>C (p.Gly1339Ala)
c.3833G>C (p.Gly1278Ala)
n.6369G>C
c.1870-1702G>C (n.1870-1702G>C)
c.4001G>C (p.Gly1334Ala)
c.4013G>C (p.Gly1338Ala)
c.3986G>C (p.Gly1329Ala)
c.3932G>C (p.Gly1311Ala)
c.3332G>C (p.Gly1111Ala)
c.4280G>C (p.Gly1427Ala)
c.4277G>C (p.Gly1426Ala)
c.4196G>C (p.Gly1399Ala)
c.4127G>C (p.Gly1376Ala)
c.3995G>C (p.Gly1332Ala)
c.3863G>C (p.Gly1288Ala)
 dbSNP
20g.32436728G=CA2360293835ASXL1c.4016G= (p.Gly1339=)
c.3833G= (p.Gly1278=)
n.6369G=
c.1870-1702G= (n.1870-1702G=)
c.4001G= (p.Gly1334=)
c.4013G= (p.Gly1338=)
c.3986G= (p.Gly1329=)
c.3932G= (p.Gly1311=)
c.3332G= (p.Gly1111=)
c.4280G= (p.Gly1427=)
c.4277G= (p.Gly1426=)
c.4196G= (p.Gly1399=)
c.4127G= (p.Gly1376=)
c.3995G= (p.Gly1332=)
c.3863G= (p.Gly1288=)
20g.32436728G>TCA408564266ASXL1c.4016G>T (p.Gly1339Val)
c.3833G>T (p.Gly1278Val)
n.6369G>T
c.1870-1702G>T (n.1870-1702G>T)
c.4001G>T (p.Gly1334Val)
c.4013G>T (p.Gly1338Val)
c.3986G>T (p.Gly1329Val)
c.3932G>T (p.Gly1311Val)
c.3332G>T (p.Gly1111Val)
c.4280G>T (p.Gly1427Val)
c.4277G>T (p.Gly1426Val)
c.4196G>T (p.Gly1399Val)
c.4127G>T (p.Gly1376Val)
c.3995G>T (p.Gly1332Val)
c.3863G>T (p.Gly1288Val)
20g.32436729A>CCA510467585ASXL1c.4017A>C (p.Gly1339=)
c.3834A>C (p.Gly1278=)
n.6370A>C
c.1870-1701A>C (n.1870-1701A>C)
c.4002A>C (p.Gly1334=)
c.4014A>C (p.Gly1338=)
c.3987A>C (p.Gly1329=)
c.3933A>C (p.Gly1311=)
c.3333A>C (p.Gly1111=)
c.4281A>C (p.Gly1427=)
c.4278A>C (p.Gly1426=)
c.4197A>C (p.Gly1399=)
c.4128A>C (p.Gly1376=)
c.3996A>C (p.Gly1332=)
c.3864A>C (p.Gly1288=)
20g.32436729A>GCA510467586ASXL1c.4017A>G (p.Gly1339=)
c.3834A>G (p.Gly1278=)
n.6370A>G
c.1870-1701A>G (n.1870-1701A>G)
c.4002A>G (p.Gly1334=)
c.4014A>G (p.Gly1338=)
c.3987A>G (p.Gly1329=)
c.3933A>G (p.Gly1311=)
c.3333A>G (p.Gly1111=)
c.4281A>G (p.Gly1427=)
c.4278A>G (p.Gly1426=)
c.4197A>G (p.Gly1399=)
c.4128A>G (p.Gly1376=)
c.3996A>G (p.Gly1332=)
c.3864A>G (p.Gly1288=)
20g.32436729A>TCA510467587ASXL1c.4017A>T (p.Gly1339=)
c.3834A>T (p.Gly1278=)
n.6370A>T
c.1870-1701A>T (n.1870-1701A>T)
c.4002A>T (p.Gly1334=)
c.4014A>T (p.Gly1338=)
c.3987A>T (p.Gly1329=)
c.3933A>T (p.Gly1311=)
c.3333A>T (p.Gly1111=)
c.4281A>T (p.Gly1427=)
c.4278A>T (p.Gly1426=)
c.4197A>T (p.Gly1399=)
c.4128A>T (p.Gly1376=)
c.3996A>T (p.Gly1332=)
c.3864A>T (p.Gly1288=)
 dbSNP
20g.32436730C>ACA9808948ASXL1c.4018C>A (p.Pro1340Thr)
c.3835C>A (p.Pro1279Thr)
n.6371C>A
c.1870-1700C>A (n.1870-1700C>A)
c.4003C>A (p.Pro1335Thr)
c.4015C>A (p.Pro1339Thr)
c.3988C>A (p.Pro1330Thr)
c.3934C>A (p.Pro1312Thr)
c.3334C>A (p.Pro1112Thr)
c.4282C>A (p.Pro1428Thr)
c.4279C>A (p.Pro1427Thr)
c.4198C>A (p.Pro1400Thr)
c.4129C>A (p.Pro1377Thr)
c.3997C>A (p.Pro1333Thr)
c.3865C>A (p.Pro1289Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436730C=CA2360293836ASXL1c.4018C= (p.Pro1340=)
c.3835C= (p.Pro1279=)
n.6371C=
c.1870-1700C= (n.1870-1700C=)
c.4003C= (p.Pro1335=)
c.4015C= (p.Pro1339=)
c.3988C= (p.Pro1330=)
c.3934C= (p.Pro1312=)
c.3334C= (p.Pro1112=)
c.4282C= (p.Pro1428=)
c.4279C= (p.Pro1427=)
c.4198C= (p.Pro1400=)
c.4129C= (p.Pro1377=)
c.3997C= (p.Pro1333=)
c.3865C= (p.Pro1289=)
20g.32436730C>GCA408564267ASXL1c.4018C>G (p.Pro1340Ala)
c.3835C>G (p.Pro1279Ala)
n.6371C>G
c.1870-1700C>G (n.1870-1700C>G)
c.4003C>G (p.Pro1335Ala)
c.4015C>G (p.Pro1339Ala)
c.3988C>G (p.Pro1330Ala)
c.3934C>G (p.Pro1312Ala)
c.3334C>G (p.Pro1112Ala)
c.4282C>G (p.Pro1428Ala)
c.4279C>G (p.Pro1427Ala)
c.4198C>G (p.Pro1400Ala)
c.4129C>G (p.Pro1377Ala)
c.3997C>G (p.Pro1333Ala)
c.3865C>G (p.Pro1289Ala)
20g.32436730C>TCA408564268ASXL1c.4018C>T (p.Pro1340Ser)
c.3835C>T (p.Pro1279Ser)
n.6371C>T
c.1870-1700C>T (n.1870-1700C>T)
c.4003C>T (p.Pro1335Ser)
c.4015C>T (p.Pro1339Ser)
c.3988C>T (p.Pro1330Ser)
c.3934C>T (p.Pro1312Ser)
c.3334C>T (p.Pro1112Ser)
c.4282C>T (p.Pro1428Ser)
c.4279C>T (p.Pro1427Ser)
c.4198C>T (p.Pro1400Ser)
c.4129C>T (p.Pro1377Ser)
c.3997C>T (p.Pro1333Ser)
c.3865C>T (p.Pro1289Ser)
20g.32436731C>ACA408564269ASXL1c.4019C>A (p.Pro1340Gln)
c.3836C>A (p.Pro1279Gln)
n.6372C>A
c.1870-1699C>A (n.1870-1699C>A)
c.4004C>A (p.Pro1335Gln)
c.4016C>A (p.Pro1339Gln)
c.3989C>A (p.Pro1330Gln)
c.3935C>A (p.Pro1312Gln)
c.3335C>A (p.Pro1112Gln)
c.4283C>A (p.Pro1428Gln)
c.4280C>A (p.Pro1427Gln)
c.4199C>A (p.Pro1400Gln)
c.4130C>A (p.Pro1377Gln)
c.3998C>A (p.Pro1333Gln)
c.3866C>A (p.Pro1289Gln)
20g.32436731C=CA2360293837ASXL1c.4019C= (p.Pro1340=)
c.3836C= (p.Pro1279=)
n.6372C=
c.1870-1699C= (n.1870-1699C=)
c.4004C= (p.Pro1335=)
c.4016C= (p.Pro1339=)
c.3989C= (p.Pro1330=)
c.3935C= (p.Pro1312=)
c.3335C= (p.Pro1112=)
c.4283C= (p.Pro1428=)
c.4280C= (p.Pro1427=)
c.4199C= (p.Pro1400=)
c.4130C= (p.Pro1377=)
c.3998C= (p.Pro1333=)
c.3866C= (p.Pro1289=)
20g.32436731C>GCA408564270ASXL1c.4019C>G (p.Pro1340Arg)
c.3836C>G (p.Pro1279Arg)
n.6372C>G
c.1870-1699C>G (n.1870-1699C>G)
c.4004C>G (p.Pro1335Arg)
c.4016C>G (p.Pro1339Arg)
c.3989C>G (p.Pro1330Arg)
c.3935C>G (p.Pro1312Arg)
c.3335C>G (p.Pro1112Arg)
c.4283C>G (p.Pro1428Arg)
c.4280C>G (p.Pro1427Arg)
c.4199C>G (p.Pro1400Arg)
c.4130C>G (p.Pro1377Arg)
c.3998C>G (p.Pro1333Arg)
c.3866C>G (p.Pro1289Arg)
20g.32436731C>TCA408564271ASXL1c.4019C>T (p.Pro1340Leu)
c.3836C>T (p.Pro1279Leu)
n.6372C>T
c.1870-1699C>T (n.1870-1699C>T)
c.4004C>T (p.Pro1335Leu)
c.4016C>T (p.Pro1339Leu)
c.3989C>T (p.Pro1330Leu)
c.3935C>T (p.Pro1312Leu)
c.3335C>T (p.Pro1112Leu)
c.4283C>T (p.Pro1428Leu)
c.4280C>T (p.Pro1427Leu)
c.4199C>T (p.Pro1400Leu)
c.4130C>T (p.Pro1377Leu)
c.3998C>T (p.Pro1333Leu)
c.3866C>T (p.Pro1289Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.32436732A=CA2360293838ASXL1c.4020A= (p.Pro1340=)
c.3837A= (p.Pro1279=)
n.6373A=
c.1870-1698A= (n.1870-1698A=)
c.4005A= (p.Pro1335=)
c.4017A= (p.Pro1339=)
c.3990A= (p.Pro1330=)
c.3936A= (p.Pro1312=)
c.3336A= (p.Pro1112=)
c.4284A= (p.Pro1428=)
c.4281A= (p.Pro1427=)
c.4200A= (p.Pro1400=)
c.4131A= (p.Pro1377=)
c.3999A= (p.Pro1333=)
c.3867A= (p.Pro1289=)
20g.32436732A>CCA510467589ASXL1c.4020A>C (p.Pro1340=)
c.3837A>C (p.Pro1279=)
n.6373A>C
c.1870-1698A>C (n.1870-1698A>C)
c.4005A>C (p.Pro1335=)
c.4017A>C (p.Pro1339=)
c.3990A>C (p.Pro1330=)
c.3936A>C (p.Pro1312=)
c.3336A>C (p.Pro1112=)
c.4284A>C (p.Pro1428=)
c.4281A>C (p.Pro1427=)
c.4200A>C (p.Pro1400=)
c.4131A>C (p.Pro1377=)
c.3999A>C (p.Pro1333=)
c.3867A>C (p.Pro1289=)
20g.32436732A>GCA510467590ASXL1c.4020A>G (p.Pro1340=)
c.3837A>G (p.Pro1279=)
n.6373A>G
c.1870-1698A>G (n.1870-1698A>G)
c.4005A>G (p.Pro1335=)
c.4017A>G (p.Pro1339=)
c.3990A>G (p.Pro1330=)
c.3936A>G (p.Pro1312=)
c.3336A>G (p.Pro1112=)
c.4284A>G (p.Pro1428=)
c.4281A>G (p.Pro1427=)
c.4200A>G (p.Pro1400=)
c.4131A>G (p.Pro1377=)
c.3999A>G (p.Pro1333=)
c.3867A>G (p.Pro1289=)
 dbSNP gnomAD v4
20g.32436732A>TCA510467591ASXL1c.4020A>T (p.Pro1340=)
c.3837A>T (p.Pro1279=)
n.6373A>T
c.1870-1698A>T (n.1870-1698A>T)
c.4005A>T (p.Pro1335=)
c.4017A>T (p.Pro1339=)
c.3990A>T (p.Pro1330=)
c.3936A>T (p.Pro1312=)
c.3336A>T (p.Pro1112=)
c.4284A>T (p.Pro1428=)
c.4281A>T (p.Pro1427=)
c.4200A>T (p.Pro1400=)
c.4131A>T (p.Pro1377=)
c.3999A>T (p.Pro1333=)
c.3867A>T (p.Pro1289=)
 ClinVar
20g.32436733A=CA2360293839ASXL1c.4021A= (p.Ser1341=)
c.3838A= (p.Ser1280=)
n.6374A=
c.1870-1697A= (n.1870-1697A=)
c.4006A= (p.Ser1336=)
c.4018A= (p.Ser1340=)
c.3991A= (p.Ser1331=)
c.3937A= (p.Ser1313=)
c.3337A= (p.Ser1113=)
c.4285A= (p.Ser1429=)
c.4282A= (p.Ser1428=)
c.4201A= (p.Ser1401=)
c.4132A= (p.Ser1378=)
c.4000A= (p.Ser1334=)
c.3868A= (p.Ser1290=)
20g.32436733A>CCA9808949ASXL1c.4021A>C (p.Ser1341Arg)
c.3838A>C (p.Ser1280Arg)
n.6374A>C
c.1870-1697A>C (n.1870-1697A>C)
c.4006A>C (p.Ser1336Arg)
c.4018A>C (p.Ser1340Arg)
c.3991A>C (p.Ser1331Arg)
c.3937A>C (p.Ser1313Arg)
c.3337A>C (p.Ser1113Arg)
c.4285A>C (p.Ser1429Arg)
c.4282A>C (p.Ser1428Arg)
c.4201A>C (p.Ser1401Arg)
c.4132A>C (p.Ser1378Arg)
c.4000A>C (p.Ser1334Arg)
c.3868A>C (p.Ser1290Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436733A>GCA408564273ASXL1c.4021A>G (p.Ser1341Gly)
c.3838A>G (p.Ser1280Gly)
n.6374A>G
c.1870-1697A>G (n.1870-1697A>G)
c.4006A>G (p.Ser1336Gly)
c.4018A>G (p.Ser1340Gly)
c.3991A>G (p.Ser1331Gly)
c.3937A>G (p.Ser1313Gly)
c.3337A>G (p.Ser1113Gly)
c.4285A>G (p.Ser1429Gly)
c.4282A>G (p.Ser1428Gly)
c.4201A>G (p.Ser1401Gly)
c.4132A>G (p.Ser1378Gly)
c.4000A>G (p.Ser1334Gly)
c.3868A>G (p.Ser1290Gly)
 dbSNP
20g.32436733A>TCA408564272ASXL1c.4021A>T (p.Ser1341Cys)
c.3838A>T (p.Ser1280Cys)
n.6374A>T
c.1870-1697A>T (n.1870-1697A>T)
c.4006A>T (p.Ser1336Cys)
c.4018A>T (p.Ser1340Cys)
c.3991A>T (p.Ser1331Cys)
c.3937A>T (p.Ser1313Cys)
c.3337A>T (p.Ser1113Cys)
c.4285A>T (p.Ser1429Cys)
c.4282A>T (p.Ser1428Cys)
c.4201A>T (p.Ser1401Cys)
c.4132A>T (p.Ser1378Cys)
c.4000A>T (p.Ser1334Cys)
c.3868A>T (p.Ser1290Cys)
 dbSNP
20g.32436734G>ACA9808950ASXL1c.4022G>A (p.Ser1341Asn)
c.3839G>A (p.Ser1280Asn)
n.6375G>A
c.1870-1696G>A (n.1870-1696G>A)
c.4007G>A (p.Ser1336Asn)
c.4019G>A (p.Ser1340Asn)
c.3992G>A (p.Ser1331Asn)
c.3938G>A (p.Ser1313Asn)
c.3338G>A (p.Ser1113Asn)
c.4286G>A (p.Ser1429Asn)
c.4283G>A (p.Ser1428Asn)
c.4202G>A (p.Ser1401Asn)
c.4133G>A (p.Ser1378Asn)
c.4001G>A (p.Ser1334Asn)
c.3869G>A (p.Ser1290Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.32436734G>CCA408564274ASXL1c.4022G>C (p.Ser1341Thr)
c.3839G>C (p.Ser1280Thr)
n.6375G>C
c.1870-1696G>C (n.1870-1696G>C)
c.4007G>C (p.Ser1336Thr)
c.4019G>C (p.Ser1340Thr)
c.3992G>C (p.Ser1331Thr)
c.3938G>C (p.Ser1313Thr)
c.3338G>C (p.Ser1113Thr)
c.4286G>C (p.Ser1429Thr)
c.4283G>C (p.Ser1428Thr)
c.4202G>C (p.Ser1401Thr)
c.4133G>C (p.Ser1378Thr)
c.4001G>C (p.Ser1334Thr)
c.3869G>C (p.Ser1290Thr)
 gnomAD v4
20g.32436734G=CA2360293840ASXL1c.4022G= (p.Ser1341=)
c.3839G= (p.Ser1280=)
n.6375G=
c.1870-1696G= (n.1870-1696G=)
c.4007G= (p.Ser1336=)
c.4019G= (p.Ser1340=)
c.3992G= (p.Ser1331=)
c.3938G= (p.Ser1313=)
c.3338G= (p.Ser1113=)
c.4286G= (p.Ser1429=)
c.4283G= (p.Ser1428=)
c.4202G= (p.Ser1401=)
c.4133G= (p.Ser1378=)
c.4001G= (p.Ser1334=)
c.3869G= (p.Ser1290=)
20g.32436734G>TCA408564275ASXL1c.4022G>T (p.Ser1341Ile)
c.3839G>T (p.Ser1280Ile)
n.6375G>T
c.1870-1696G>T (n.1870-1696G>T)
c.4007G>T (p.Ser1336Ile)
c.4019G>T (p.Ser1340Ile)
c.3992G>T (p.Ser1331Ile)
c.3938G>T (p.Ser1313Ile)
c.3338G>T (p.Ser1113Ile)
c.4286G>T (p.Ser1429Ile)
c.4283G>T (p.Ser1428Ile)
c.4202G>T (p.Ser1401Ile)
c.4133G>T (p.Ser1378Ile)
c.4001G>T (p.Ser1334Ile)
c.3869G>T (p.Ser1290Ile)
20g.32436735C>ACA408564276ASXL1c.4023C>A (p.Ser1341Arg)
c.3840C>A (p.Ser1280Arg)
n.6376C>A
c.1870-1695C>A (n.1870-1695C>A)
c.4008C>A (p.Ser1336Arg)
c.4020C>A (p.Ser1340Arg)
c.3993C>A (p.Ser1331Arg)
c.3939C>A (p.Ser1313Arg)
c.3339C>A (p.Ser1113Arg)
c.4287C>A (p.Ser1429Arg)
c.4284C>A (p.Ser1428Arg)
c.4203C>A (p.Ser1401Arg)
c.4134C>A (p.Ser1378Arg)
c.4002C>A (p.Ser1334Arg)
c.3870C>A (p.Ser1290Arg)
 dbSNP
20g.32436735C=CA2360293841ASXL1c.4023C= (p.Ser1341=)
c.3840C= (p.Ser1280=)
n.6376C=
c.1870-1695C= (n.1870-1695C=)
c.4008C= (p.Ser1336=)
c.4020C= (p.Ser1340=)
c.3993C= (p.Ser1331=)
c.3939C= (p.Ser1313=)
c.3339C= (p.Ser1113=)
c.4287C= (p.Ser1429=)
c.4284C= (p.Ser1428=)
c.4203C= (p.Ser1401=)
c.4134C= (p.Ser1378=)
c.4002C= (p.Ser1334=)
c.3870C= (p.Ser1290=)
20g.32436735C>GCA408564277ASXL1c.4023C>G (p.Ser1341Arg)
c.3840C>G (p.Ser1280Arg)
n.6376C>G
c.1870-1695C>G (n.1870-1695C>G)
c.4008C>G (p.Ser1336Arg)
c.4020C>G (p.Ser1340Arg)
c.3993C>G (p.Ser1331Arg)
c.3939C>G (p.Ser1313Arg)
c.3339C>G (p.Ser1113Arg)
c.4287C>G (p.Ser1429Arg)
c.4284C>G (p.Ser1428Arg)
c.4203C>G (p.Ser1401Arg)
c.4134C>G (p.Ser1378Arg)
c.4002C>G (p.Ser1334Arg)
c.3870C>G (p.Ser1290Arg)
 gnomAD v4
20g.32436735C>TCA510467593ASXL1c.4023C>T (p.Ser1341=)
c.3840C>T (p.Ser1280=)
n.6376C>T
c.1870-1695C>T (n.1870-1695C>T)
c.4008C>T (p.Ser1336=)
c.4020C>T (p.Ser1340=)
c.3993C>T (p.Ser1331=)
c.3939C>T (p.Ser1313=)
c.3339C>T (p.Ser1113=)
c.4287C>T (p.Ser1429=)
c.4284C>T (p.Ser1428=)
c.4203C>T (p.Ser1401=)
c.4134C>T (p.Ser1378=)
c.4002C>T (p.Ser1334=)
c.3870C>T (p.Ser1290=)
 dbSNP gnomAD v4
20g.32436736A>CCA408564280ASXL1c.4024A>C (p.Thr1342Pro)
c.3841A>C (p.Thr1281Pro)
n.6377A>C
c.1870-1694A>C (n.1870-1694A>C)
c.4009A>C (p.Thr1337Pro)
c.4021A>C (p.Thr1341Pro)
c.3994A>C (p.Thr1332Pro)
c.3940A>C (p.Thr1314Pro)
c.3340A>C (p.Thr1114Pro)
c.4288A>C (p.Thr1430Pro)
c.4285A>C (p.Thr1429Pro)
c.4204A>C (p.Thr1402Pro)
c.4135A>C (p.Thr1379Pro)
c.4003A>C (p.Thr1335Pro)
c.3871A>C (p.Thr1291Pro)
20g.32436736A>GCA408564279ASXL1c.4024A>G (p.Thr1342Ala)
c.3841A>G (p.Thr1281Ala)
n.6377A>G
c.1870-1694A>G (n.1870-1694A>G)
c.4009A>G (p.Thr1337Ala)
c.4021A>G (p.Thr1341Ala)
c.3994A>G (p.Thr1332Ala)
c.3940A>G (p.Thr1314Ala)
c.3340A>G (p.Thr1114Ala)
c.4288A>G (p.Thr1430Ala)
c.4285A>G (p.Thr1429Ala)
c.4204A>G (p.Thr1402Ala)
c.4135A>G (p.Thr1379Ala)
c.4003A>G (p.Thr1335Ala)
c.3871A>G (p.Thr1291Ala)
20g.32436736A>TCA408564278ASXL1c.4024A>T (p.Thr1342Ser)
c.3841A>T (p.Thr1281Ser)
n.6377A>T
c.1870-1694A>T (n.1870-1694A>T)
c.4009A>T (p.Thr1337Ser)
c.4021A>T (p.Thr1341Ser)
c.3994A>T (p.Thr1332Ser)
c.3940A>T (p.Thr1314Ser)
c.3340A>T (p.Thr1114Ser)
c.4288A>T (p.Thr1430Ser)
c.4285A>T (p.Thr1429Ser)
c.4204A>T (p.Thr1402Ser)
c.4135A>T (p.Thr1379Ser)
c.4003A>T (p.Thr1335Ser)
c.3871A>T (p.Thr1291Ser)
20g.32436737C>ACA408564281ASXL1c.4025C>A (p.Thr1342Lys)
c.3842C>A (p.Thr1281Lys)
n.6378C>A
c.1870-1693C>A (n.1870-1693C>A)
c.4010C>A (p.Thr1337Lys)
c.4022C>A (p.Thr1341Lys)
c.3995C>A (p.Thr1332Lys)
c.3941C>A (p.Thr1314Lys)
c.3341C>A (p.Thr1114Lys)
c.4289C>A (p.Thr1430Lys)
c.4286C>A (p.Thr1429Lys)
c.4205C>A (p.Thr1402Lys)
c.4136C>A (p.Thr1379Lys)
c.4004C>A (p.Thr1335Lys)
c.3872C>A (p.Thr1291Lys)
20g.32436737C>GCA408564282ASXL1c.4025C>G (p.Thr1342Arg)
c.3842C>G (p.Thr1281Arg)
n.6378C>G
c.1870-1693C>G (n.1870-1693C>G)
c.4010C>G (p.Thr1337Arg)
c.4022C>G (p.Thr1341Arg)
c.3995C>G (p.Thr1332Arg)
c.3941C>G (p.Thr1314Arg)
c.3341C>G (p.Thr1114Arg)
c.4289C>G (p.Thr1430Arg)
c.4286C>G (p.Thr1429Arg)
c.4205C>G (p.Thr1402Arg)
c.4136C>G (p.Thr1379Arg)
c.4004C>G (p.Thr1335Arg)
c.3872C>G (p.Thr1291Arg)
20g.32436737C>TCA408564283ASXL1c.4025C>T (p.Thr1342Ile)
c.3842C>T (p.Thr1281Ile)
n.6378C>T
c.1870-1693C>T (n.1870-1693C>T)
c.4010C>T (p.Thr1337Ile)
c.4022C>T (p.Thr1341Ile)
c.3995C>T (p.Thr1332Ile)
c.3941C>T (p.Thr1314Ile)
c.3341C>T (p.Thr1114Ile)
c.4289C>T (p.Thr1430Ile)
c.4286C>T (p.Thr1429Ile)
c.4205C>T (p.Thr1402Ile)
c.4136C>T (p.Thr1379Ile)
c.4004C>T (p.Thr1335Ile)
c.3872C>T (p.Thr1291Ile)
 gnomAD v4
20g.32436738A=CA2360293842ASXL1c.4026A= (p.Thr1342=)
c.3843A= (p.Thr1281=)
n.6379A=
c.1870-1692A= (n.1870-1692A=)
c.4011A= (p.Thr1337=)
c.4023A= (p.Thr1341=)
c.3996A= (p.Thr1332=)
c.3942A= (p.Thr1314=)
c.3342A= (p.Thr1114=)
c.4290A= (p.Thr1430=)
c.4287A= (p.Thr1429=)
c.4206A= (p.Thr1402=)
c.4137A= (p.Thr1379=)
c.4005A= (p.Thr1335=)
c.3873A= (p.Thr1291=)
20g.32436738A>CCA510467594ASXL1c.4026A>C (p.Thr1342=)
c.3843A>C (p.Thr1281=)
n.6379A>C
c.1870-1692A>C (n.1870-1692A>C)
c.4011A>C (p.Thr1337=)
c.4023A>C (p.Thr1341=)
c.3996A>C (p.Thr1332=)
c.3942A>C (p.Thr1314=)
c.3342A>C (p.Thr1114=)
c.4290A>C (p.Thr1430=)
c.4287A>C (p.Thr1429=)
c.4206A>C (p.Thr1402=)
c.4137A>C (p.Thr1379=)
c.4005A>C (p.Thr1335=)
c.3873A>C (p.Thr1291=)
20g.32436738A>GCA510467595ASXL1c.4026A>G (p.Thr1342=)
c.3843A>G (p.Thr1281=)
n.6379A>G
c.1870-1692A>G (n.1870-1692A>G)
c.4011A>G (p.Thr1337=)
c.4023A>G (p.Thr1341=)
c.3996A>G (p.Thr1332=)
c.3942A>G (p.Thr1314=)
c.3342A>G (p.Thr1114=)
c.4290A>G (p.Thr1430=)
c.4287A>G (p.Thr1429=)
c.4206A>G (p.Thr1402=)
c.4137A>G (p.Thr1379=)
c.4005A>G (p.Thr1335=)
c.3873A>G (p.Thr1291=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436738A>TCA510467596ASXL1c.4026A>T (p.Thr1342=)
c.3843A>T (p.Thr1281=)
n.6379A>T
c.1870-1692A>T (n.1870-1692A>T)
c.4011A>T (p.Thr1337=)
c.4023A>T (p.Thr1341=)
c.3996A>T (p.Thr1332=)
c.3942A>T (p.Thr1314=)
c.3342A>T (p.Thr1114=)
c.4290A>T (p.Thr1430=)
c.4287A>T (p.Thr1429=)
c.4206A>T (p.Thr1402=)
c.4137A>T (p.Thr1379=)
c.4005A>T (p.Thr1335=)
c.3873A>T (p.Thr1291=)
20g.32436740dupCA2652401373ASXL1c.4028dup (p.Asn1343LysfsTer28)
c.3845dup (p.Asn1282LysfsTer28)
n.6381dup
c.1870-1690dup (n.1870-1690dup)
c.4013dup (p.Asn1338LysfsTer28)
c.4025dup (p.Asn1342LysfsTer28)
c.3998dup (p.Asn1333LysfsTer28)
c.3944dup (p.Asn1315LysfsTer28)
c.3344dup (p.Asn1115LysfsTer28)
c.4292dup (p.Asn1431LysfsTer28)
c.4289dup (p.Asn1430LysfsTer28)
c.4208dup (p.Asn1403LysfsTer28)
c.4139dup (p.Asn1380LysfsTer28)
c.4007dup (p.Asn1336LysfsTer28)
c.3875dup (p.Asn1292LysfsTer28)
 gnomAD v4
20g.32436739A>CCA408564284ASXL1c.4027A>C (p.Asn1343His)
c.3844A>C (p.Asn1282His)
n.6380A>C
c.1870-1691A>C (n.1870-1691A>C)
c.4012A>C (p.Asn1338His)
c.4024A>C (p.Asn1342His)
c.3997A>C (p.Asn1333His)
c.3943A>C (p.Asn1315His)
c.3343A>C (p.Asn1115His)
c.4291A>C (p.Asn1431His)
c.4288A>C (p.Asn1430His)
c.4207A>C (p.Asn1403His)
c.4138A>C (p.Asn1380His)
c.4006A>C (p.Asn1336His)
c.3874A>C (p.Asn1292His)
20g.32436739A>GCA408564285ASXL1c.4027A>G (p.Asn1343Asp)
c.3844A>G (p.Asn1282Asp)
n.6380A>G
c.1870-1691A>G (n.1870-1691A>G)
c.4012A>G (p.Asn1338Asp)
c.4024A>G (p.Asn1342Asp)
c.3997A>G (p.Asn1333Asp)
c.3943A>G (p.Asn1315Asp)
c.3343A>G (p.Asn1115Asp)
c.4291A>G (p.Asn1431Asp)
c.4288A>G (p.Asn1430Asp)
c.4207A>G (p.Asn1403Asp)
c.4138A>G (p.Asn1380Asp)
c.4006A>G (p.Asn1336Asp)
c.3874A>G (p.Asn1292Asp)
20g.32436739A>TCA408564286ASXL1c.4027A>T (p.Asn1343Tyr)
c.3844A>T (p.Asn1282Tyr)
n.6380A>T
c.1870-1691A>T (n.1870-1691A>T)
c.4012A>T (p.Asn1338Tyr)
c.4024A>T (p.Asn1342Tyr)
c.3997A>T (p.Asn1333Tyr)
c.3943A>T (p.Asn1315Tyr)
c.3343A>T (p.Asn1115Tyr)
c.4291A>T (p.Asn1431Tyr)
c.4288A>T (p.Asn1430Tyr)
c.4207A>T (p.Asn1403Tyr)
c.4138A>T (p.Asn1380Tyr)
c.4006A>T (p.Asn1336Tyr)
c.3874A>T (p.Asn1292Tyr)
20g.32436740A=CA2360293843ASXL1c.4028A= (p.Asn1343=)
c.3845A= (p.Asn1282=)
n.6381A=
c.1870-1690A= (n.1870-1690A=)
c.4013A= (p.Asn1338=)
c.4025A= (p.Asn1342=)
c.3998A= (p.Asn1333=)
c.3944A= (p.Asn1315=)
c.3344A= (p.Asn1115=)
c.4292A= (p.Asn1431=)
c.4289A= (p.Asn1430=)
c.4208A= (p.Asn1403=)
c.4139A= (p.Asn1380=)
c.4007A= (p.Asn1336=)
c.3875A= (p.Asn1292=)
20g.32436740A>CCA408564287ASXL1c.4028A>C (p.Asn1343Thr)
c.3845A>C (p.Asn1282Thr)
n.6381A>C
c.1870-1690A>C (n.1870-1690A>C)
c.4013A>C (p.Asn1338Thr)
c.4025A>C (p.Asn1342Thr)
c.3998A>C (p.Asn1333Thr)
c.3944A>C (p.Asn1315Thr)
c.3344A>C (p.Asn1115Thr)
c.4292A>C (p.Asn1431Thr)
c.4289A>C (p.Asn1430Thr)
c.4208A>C (p.Asn1403Thr)
c.4139A>C (p.Asn1380Thr)
c.4007A>C (p.Asn1336Thr)
c.3875A>C (p.Asn1292Thr)
20g.32436740A>GCA408564289ASXL1c.4028A>G (p.Asn1343Ser)
c.3845A>G (p.Asn1282Ser)
n.6381A>G
c.1870-1690A>G (n.1870-1690A>G)
c.4013A>G (p.Asn1338Ser)
c.4025A>G (p.Asn1342Ser)
c.3998A>G (p.Asn1333Ser)
c.3944A>G (p.Asn1315Ser)
c.3344A>G (p.Asn1115Ser)
c.4292A>G (p.Asn1431Ser)
c.4289A>G (p.Asn1430Ser)
c.4208A>G (p.Asn1403Ser)
c.4139A>G (p.Asn1380Ser)
c.4007A>G (p.Asn1336Ser)
c.3875A>G (p.Asn1292Ser)
 dbSNP
20g.32436740A>TCA408564288ASXL1c.4028A>T (p.Asn1343Ile)
c.3845A>T (p.Asn1282Ile)
n.6381A>T
c.1870-1690A>T (n.1870-1690A>T)
c.4013A>T (p.Asn1338Ile)
c.4025A>T (p.Asn1342Ile)
c.3998A>T (p.Asn1333Ile)
c.3944A>T (p.Asn1315Ile)
c.3344A>T (p.Asn1115Ile)
c.4292A>T (p.Asn1431Ile)
c.4289A>T (p.Asn1430Ile)
c.4208A>T (p.Asn1403Ile)
c.4139A>T (p.Asn1380Ile)
c.4007A>T (p.Asn1336Ile)
c.3875A>T (p.Asn1292Ile)
20g.32436741C>ACA408564290ASXL1c.4029C>A (p.Asn1343Lys)
c.3846C>A (p.Asn1282Lys)
n.6382C>A
c.1870-1689C>A (n.1870-1689C>A)
c.4014C>A (p.Asn1338Lys)
c.4026C>A (p.Asn1342Lys)
c.3999C>A (p.Asn1333Lys)
c.3945C>A (p.Asn1315Lys)
c.3345C>A (p.Asn1115Lys)
c.4293C>A (p.Asn1431Lys)
c.4290C>A (p.Asn1430Lys)
c.4209C>A (p.Asn1403Lys)
c.4140C>A (p.Asn1380Lys)
c.4008C>A (p.Asn1336Lys)
c.3876C>A (p.Asn1292Lys)
20g.32436741C>GCA408564291ASXL1c.4029C>G (p.Asn1343Lys)
c.3846C>G (p.Asn1282Lys)
n.6382C>G
c.1870-1689C>G (n.1870-1689C>G)
c.4014C>G (p.Asn1338Lys)
c.4026C>G (p.Asn1342Lys)
c.3999C>G (p.Asn1333Lys)
c.3945C>G (p.Asn1315Lys)
c.3345C>G (p.Asn1115Lys)
c.4293C>G (p.Asn1431Lys)
c.4290C>G (p.Asn1430Lys)
c.4209C>G (p.Asn1403Lys)
c.4140C>G (p.Asn1380Lys)
c.4008C>G (p.Asn1336Lys)
c.3876C>G (p.Asn1292Lys)
20g.32436741C>TCA510467598ASXL1c.4029C>T (p.Asn1343=)
c.3846C>T (p.Asn1282=)
n.6382C>T
c.1870-1689C>T (n.1870-1689C>T)
c.4014C>T (p.Asn1338=)
c.4026C>T (p.Asn1342=)
c.3999C>T (p.Asn1333=)
c.3945C>T (p.Asn1315=)
c.3345C>T (p.Asn1115=)
c.4293C>T (p.Asn1431=)
c.4290C>T (p.Asn1430=)
c.4209C>T (p.Asn1403=)
c.4140C>T (p.Asn1380=)
c.4008C>T (p.Asn1336=)
c.3876C>T (p.Asn1292=)
 dbSNP gnomAD v4
20g.32436742T>ACA408564292ASXL1c.4030T>A (p.Ser1344Thr)
c.3847T>A (p.Ser1283Thr)
n.6383T>A
c.1870-1688T>A (n.1870-1688T>A)
c.4015T>A (p.Ser1339Thr)
c.4027T>A (p.Ser1343Thr)
c.4000T>A (p.Ser1334Thr)
c.3946T>A (p.Ser1316Thr)
c.3346T>A (p.Ser1116Thr)
c.4294T>A (p.Ser1432Thr)
c.4291T>A (p.Ser1431Thr)
c.4210T>A (p.Ser1404Thr)
c.4141T>A (p.Ser1381Thr)
c.4009T>A (p.Ser1337Thr)
c.3877T>A (p.Ser1293Thr)
20g.32436742T>CCA408564293ASXL1c.4030T>C (p.Ser1344Pro)
c.3847T>C (p.Ser1283Pro)
n.6383T>C
c.1870-1688T>C (n.1870-1688T>C)
c.4015T>C (p.Ser1339Pro)
c.4027T>C (p.Ser1343Pro)
c.4000T>C (p.Ser1334Pro)
c.3946T>C (p.Ser1316Pro)
c.3346T>C (p.Ser1116Pro)
c.4294T>C (p.Ser1432Pro)
c.4291T>C (p.Ser1431Pro)
c.4210T>C (p.Ser1404Pro)
c.4141T>C (p.Ser1381Pro)
c.4009T>C (p.Ser1337Pro)
c.3877T>C (p.Ser1293Pro)
 gnomAD v4
20g.32436742T>GCA408564294ASXL1c.4030T>G (p.Ser1344Ala)
c.3847T>G (p.Ser1283Ala)
n.6383T>G
c.1870-1688T>G (n.1870-1688T>G)
c.4015T>G (p.Ser1339Ala)
c.4027T>G (p.Ser1343Ala)
c.4000T>G (p.Ser1334Ala)
c.3946T>G (p.Ser1316Ala)
c.3346T>G (p.Ser1116Ala)
c.4294T>G (p.Ser1432Ala)
c.4291T>G (p.Ser1431Ala)
c.4210T>G (p.Ser1404Ala)
c.4141T>G (p.Ser1381Ala)
c.4009T>G (p.Ser1337Ala)
c.3877T>G (p.Ser1293Ala)
20g.32436743C>ACA408564295ASXL1c.4031C>A (p.Ser1344Tyr)
c.3848C>A (p.Ser1283Tyr)
n.6384C>A
c.1870-1687C>A (n.1870-1687C>A)
c.4016C>A (p.Ser1339Tyr)
c.4028C>A (p.Ser1343Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3947C>A (p.Ser1316Tyr)
c.3347C>A (p.Ser1116Tyr)
c.4295C>A (p.Ser1432Tyr)
c.4292C>A (p.Ser1431Tyr)
c.4211C>A (p.Ser1404Tyr)
c.4142C>A (p.Ser1381Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3878C>A (p.Ser1293Tyr)
20g.32436743C>GCA408564296ASXL1c.4031C>G (p.Ser1344Cys)
c.3848C>G (p.Ser1283Cys)
n.6384C>G
c.1870-1687C>G (n.1870-1687C>G)
c.4016C>G (p.Ser1339Cys)
c.4028C>G (p.Ser1343Cys)
c.4001C>G (p.Ser1334Cys)
c.3947C>G (p.Ser1316Cys)
c.3347C>G (p.Ser1116Cys)
c.4295C>G (p.Ser1432Cys)
c.4292C>G (p.Ser1431Cys)
c.4211C>G (p.Ser1404Cys)
c.4142C>G (p.Ser1381Cys)
c.4010C>G (p.Ser1337Cys)
c.3878C>G (p.Ser1293Cys)
20g.32436743C>TCA408564297ASXL1c.4031C>T (p.Ser1344Phe)
c.3848C>T (p.Ser1283Phe)
n.6384C>T
c.1870-1687C>T (n.1870-1687C>T)
c.4016C>T (p.Ser1339Phe)
c.4028C>T (p.Ser1343Phe)
c.4001C>T (p.Ser1334Phe)
c.3947C>T (p.Ser1316Phe)
c.3347C>T (p.Ser1116Phe)
c.4295C>T (p.Ser1432Phe)
c.4292C>T (p.Ser1431Phe)
c.4211C>T (p.Ser1404Phe)
c.4142C>T (p.Ser1381Phe)
c.4010C>T (p.Ser1337Phe)
c.3878C>T (p.Ser1293Phe)
 gnomAD v4 COSMIC COSMIC
20g.32436744C>ACA510467600ASXL1c.4032C>A (p.Ser1344=)
c.3849C>A (p.Ser1283=)
n.6385C>A
c.1870-1686C>A (n.1870-1686C>A)
c.4017C>A (p.Ser1339=)
c.4029C>A (p.Ser1343=)
c.4002C>A (p.Ser1334=)
c.3948C>A (p.Ser1316=)
c.3348C>A (p.Ser1116=)
c.4296C>A (p.Ser1432=)
c.4293C>A (p.Ser1431=)
c.4212C>A (p.Ser1404=)
c.4143C>A (p.Ser1381=)
c.4011C>A (p.Ser1337=)
c.3879C>A (p.Ser1293=)
20g.32436744C>GCA510467601ASXL1c.4032C>G (p.Ser1344=)
c.3849C>G (p.Ser1283=)
n.6385C>G
c.1870-1686C>G (n.1870-1686C>G)
c.4017C>G (p.Ser1339=)
c.4029C>G (p.Ser1343=)
c.4002C>G (p.Ser1334=)
c.3948C>G (p.Ser1316=)
c.3348C>G (p.Ser1116=)
c.4296C>G (p.Ser1432=)
c.4293C>G (p.Ser1431=)
c.4212C>G (p.Ser1404=)
c.4143C>G (p.Ser1381=)
c.4011C>G (p.Ser1337=)
c.3879C>G (p.Ser1293=)
20g.32436744C>TCA510467602ASXL1c.4032C>T (p.Ser1344=)
c.3849C>T (p.Ser1283=)
n.6385C>T
c.1870-1686C>T (n.1870-1686C>T)
c.4017C>T (p.Ser1339=)
c.4029C>T (p.Ser1343=)
c.4002C>T (p.Ser1334=)
c.3948C>T (p.Ser1316=)
c.3348C>T (p.Ser1116=)
c.4296C>T (p.Ser1432=)
c.4293C>T (p.Ser1431=)
c.4212C>T (p.Ser1404=)
c.4143C>T (p.Ser1381=)
c.4011C>T (p.Ser1337=)
c.3879C>T (p.Ser1293=)
 ClinVar gnomAD v4 COSMIC COSMIC
20g.32436745A=CA2360293844ASXL1c.4033A= (p.Met1345=)
c.3850A= (p.Met1284=)
n.6386A=
c.1870-1685A= (n.1870-1685A=)
c.4018A= (p.Met1340=)
c.4030A= (p.Met1344=)
c.4003A= (p.Met1335=)
c.3949A= (p.Met1317=)
c.3349A= (p.Met1117=)
c.4297A= (p.Met1433=)
c.4294A= (p.Met1432=)
c.4213A= (p.Met1405=)
c.4144A= (p.Met1382=)
c.4012A= (p.Met1338=)
c.3880A= (p.Met1294=)
20g.32436745A>CCA408564298ASXL1c.4033A>C (p.Met1345Leu)
c.3850A>C (p.Met1284Leu)
n.6386A>C
c.1870-1685A>C (n.1870-1685A>C)
c.4018A>C (p.Met1340Leu)
c.4030A>C (p.Met1344Leu)
c.4003A>C (p.Met1335Leu)
c.3949A>C (p.Met1317Leu)
c.3349A>C (p.Met1117Leu)
c.4297A>C (p.Met1433Leu)
c.4294A>C (p.Met1432Leu)
c.4213A>C (p.Met1405Leu)
c.4144A>C (p.Met1382Leu)
c.4012A>C (p.Met1338Leu)
c.3880A>C (p.Met1294Leu)
20g.32436745A>GCA9808952ASXL1c.4033A>G (p.Met1345Val)
c.3850A>G (p.Met1284Val)
n.6386A>G
c.1870-1685A>G (n.1870-1685A>G)
c.4018A>G (p.Met1340Val)
c.4030A>G (p.Met1344Val)
c.4003A>G (p.Met1335Val)
c.3949A>G (p.Met1317Val)
c.3349A>G (p.Met1117Val)
c.4297A>G (p.Met1433Val)
c.4294A>G (p.Met1432Val)
c.4213A>G (p.Met1405Val)
c.4144A>G (p.Met1382Val)
c.4012A>G (p.Met1338Val)
c.3880A>G (p.Met1294Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436745A>TCA9808951ASXL1c.4033A>T (p.Met1345Leu)
c.3850A>T (p.Met1284Leu)
n.6386A>T
c.1870-1685A>T (n.1870-1685A>T)
c.4018A>T (p.Met1340Leu)
c.4030A>T (p.Met1344Leu)
c.4003A>T (p.Met1335Leu)
c.3949A>T (p.Met1317Leu)
c.3349A>T (p.Met1117Leu)
c.4297A>T (p.Met1433Leu)
c.4294A>T (p.Met1432Leu)
c.4213A>T (p.Met1405Leu)
c.4144A>T (p.Met1382Leu)
c.4012A>T (p.Met1338Leu)
c.3880A>T (p.Met1294Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436746T>ACA408564301ASXL1c.4034T>A (p.Met1345Lys)
c.3851T>A (p.Met1284Lys)
n.6387T>A
c.1870-1684T>A (n.1870-1684T>A)
c.4019T>A (p.Met1340Lys)
c.4031T>A (p.Met1344Lys)
c.4004T>A (p.Met1335Lys)
c.3950T>A (p.Met1317Lys)
c.3350T>A (p.Met1117Lys)
c.4298T>A (p.Met1433Lys)
c.4295T>A (p.Met1432Lys)
c.4214T>A (p.Met1405Lys)
c.4145T>A (p.Met1382Lys)
c.4013T>A (p.Met1338Lys)
c.3881T>A (p.Met1294Lys)
20g.32436746T>CCA408564300ASXL1c.4034T>C (p.Met1345Thr)
c.3851T>C (p.Met1284Thr)
n.6387T>C
c.1870-1684T>C (n.1870-1684T>C)
c.4019T>C (p.Met1340Thr)
c.4031T>C (p.Met1344Thr)
c.4004T>C (p.Met1335Thr)
c.3950T>C (p.Met1317Thr)
c.3350T>C (p.Met1117Thr)
c.4298T>C (p.Met1433Thr)
c.4295T>C (p.Met1432Thr)
c.4214T>C (p.Met1405Thr)
c.4145T>C (p.Met1382Thr)
c.4013T>C (p.Met1338Thr)
c.3881T>C (p.Met1294Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.32436746T>GCA408564299ASXL1c.4034T>G (p.Met1345Arg)
c.3851T>G (p.Met1284Arg)
n.6387T>G
c.1870-1684T>G (n.1870-1684T>G)
c.4019T>G (p.Met1340Arg)
c.4031T>G (p.Met1344Arg)
c.4004T>G (p.Met1335Arg)
c.3950T>G (p.Met1317Arg)
c.3350T>G (p.Met1117Arg)
c.4298T>G (p.Met1433Arg)
c.4295T>G (p.Met1432Arg)
c.4214T>G (p.Met1405Arg)
c.4145T>G (p.Met1382Arg)
c.4013T>G (p.Met1338Arg)
c.3881T>G (p.Met1294Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.32436746T=CA2360293845ASXL1c.4034T= (p.Met1345=)
c.3851T= (p.Met1284=)
n.6387T=
c.1870-1684T= (n.1870-1684T=)
c.4019T= (p.Met1340=)
c.4031T= (p.Met1344=)
c.4004T= (p.Met1335=)
c.3950T= (p.Met1317=)
c.3350T= (p.Met1117=)
c.4298T= (p.Met1433=)
c.4295T= (p.Met1432=)
c.4214T= (p.Met1405=)
c.4145T= (p.Met1382=)
c.4013T= (p.Met1338=)
c.3881T= (p.Met1294=)
20g.32436747G>ACA408564302ASXL1c.4035G>A (p.Met1345Ile)
c.3852G>A (p.Met1284Ile)
n.6388G>A
c.1870-1683G>A (n.1870-1683G>A)
c.4020G>A (p.Met1340Ile)
c.4032G>A (p.Met1344Ile)
c.4005G>A (p.Met1335Ile)
c.3951G>A (p.Met1317Ile)
c.3351G>A (p.Met1117Ile)
c.4299G>A (p.Met1433Ile)
c.4296G>A (p.Met1432Ile)
c.4215G>A (p.Met1405Ile)
c.4146G>A (p.Met1382Ile)
c.4014G>A (p.Met1338Ile)
c.3882G>A (p.Met1294Ile)
 gnomAD v4
20g.32436747G>CCA408564303ASXL1c.4035G>C (p.Met1345Ile)
c.3852G>C (p.Met1284Ile)
n.6388G>C
c.1870-1683G>C (n.1870-1683G>C)
c.4020G>C (p.Met1340Ile)
c.4032G>C (p.Met1344Ile)
c.4005G>C (p.Met1335Ile)
c.3951G>C (p.Met1317Ile)
c.3351G>C (p.Met1117Ile)
c.4299G>C (p.Met1433Ile)
c.4296G>C (p.Met1432Ile)
c.4215G>C (p.Met1405Ile)
c.4146G>C (p.Met1382Ile)
c.4014G>C (p.Met1338Ile)
c.3882G>C (p.Met1294Ile)
20g.32436747G>TCA408564304ASXL1c.4035G>T (p.Met1345Ile)
c.3852G>T (p.Met1284Ile)
n.6388G>T
c.1870-1683G>T (n.1870-1683G>T)
c.4020G>T (p.Met1340Ile)
c.4032G>T (p.Met1344Ile)
c.4005G>T (p.Met1335Ile)
c.3951G>T (p.Met1317Ile)
c.3351G>T (p.Met1117Ile)
c.4299G>T (p.Met1433Ile)
c.4296G>T (p.Met1432Ile)
c.4215G>T (p.Met1405Ile)
c.4146G>T (p.Met1382Ile)
c.4014G>T (p.Met1338Ile)
c.3882G>T (p.Met1294Ile)
20g.32436748T>ACA408564305ASXL1c.4036T>A (p.Ser1346Thr)
c.3853T>A (p.Ser1285Thr)
n.6389T>A
c.1870-1682T>A (n.1870-1682T>A)
c.4021T>A (p.Ser1341Thr)
c.4033T>A (p.Ser1345Thr)
c.4006T>A (p.Ser1336Thr)
c.3952T>A (p.Ser1318Thr)
c.3352T>A (p.Ser1118Thr)
c.4300T>A (p.Ser1434Thr)
c.4297T>A (p.Ser1433Thr)
c.4216T>A (p.Ser1406Thr)
c.4147T>A (p.Ser1383Thr)
c.4015T>A (p.Ser1339Thr)
c.3883T>A (p.Ser1295Thr)
20g.32436748T>CCA408564306ASXL1c.4036T>C (p.Ser1346Pro)
c.3853T>C (p.Ser1285Pro)
n.6389T>C
c.1870-1682T>C (n.1870-1682T>C)
c.4021T>C (p.Ser1341Pro)
c.4033T>C (p.Ser1345Pro)
c.4006T>C (p.Ser1336Pro)
c.3952T>C (p.Ser1318Pro)
c.3352T>C (p.Ser1118Pro)
c.4300T>C (p.Ser1434Pro)
c.4297T>C (p.Ser1433Pro)
c.4216T>C (p.Ser1406Pro)
c.4147T>C (p.Ser1383Pro)
c.4015T>C (p.Ser1339Pro)
c.3883T>C (p.Ser1295Pro)
 gnomAD v4
20g.32436748T>GCA408564307ASXL1c.4036T>G (p.Ser1346Ala)
c.3853T>G (p.Ser1285Ala)
n.6389T>G
c.1870-1682T>G (n.1870-1682T>G)
c.4021T>G (p.Ser1341Ala)
c.4033T>G (p.Ser1345Ala)
c.4006T>G (p.Ser1336Ala)
c.3952T>G (p.Ser1318Ala)
c.3352T>G (p.Ser1118Ala)
c.4300T>G (p.Ser1434Ala)
c.4297T>G (p.Ser1433Ala)
c.4216T>G (p.Ser1406Ala)
c.4147T>G (p.Ser1383Ala)
c.4015T>G (p.Ser1339Ala)
c.3883T>G (p.Ser1295Ala)
20g.32436749C>ACA408564310ASXL1c.4037C>A (p.Ser1346Tyr)
c.3854C>A (p.Ser1285Tyr)
n.6390C>A
c.1870-1681C>A (n.1870-1681C>A)
c.4022C>A (p.Ser1341Tyr)
c.4034C>A (p.Ser1345Tyr)
c.4007C>A (p.Ser1336Tyr)
c.3953C>A (p.Ser1318Tyr)
c.3353C>A (p.Ser1118Tyr)
c.4301C>A (p.Ser1434Tyr)
c.4298C>A (p.Ser1433Tyr)
c.4217C>A (p.Ser1406Tyr)
c.4148C>A (p.Ser1383Tyr)
c.4016C>A (p.Ser1339Tyr)
c.3884C>A (p.Ser1295Tyr)
 dbSNP
20g.32436749C>GCA408564309ASXL1c.4037C>G (p.Ser1346Cys)
c.3854C>G (p.Ser1285Cys)
n.6390C>G
c.1870-1681C>G (n.1870-1681C>G)
c.4022C>G (p.Ser1341Cys)
c.4034C>G (p.Ser1345Cys)
c.4007C>G (p.Ser1336Cys)
c.3953C>G (p.Ser1318Cys)
c.3353C>G (p.Ser1118Cys)
c.4301C>G (p.Ser1434Cys)
c.4298C>G (p.Ser1433Cys)
c.4217C>G (p.Ser1406Cys)
c.4148C>G (p.Ser1383Cys)
c.4016C>G (p.Ser1339Cys)
c.3884C>G (p.Ser1295Cys)
20g.32436749C>TCA408564308ASXL1c.4037C>T (p.Ser1346Phe)
c.3854C>T (p.Ser1285Phe)
n.6390C>T
c.1870-1681C>T (n.1870-1681C>T)
c.4022C>T (p.Ser1341Phe)
c.4034C>T (p.Ser1345Phe)
c.4007C>T (p.Ser1336Phe)
c.3953C>T (p.Ser1318Phe)
c.3353C>T (p.Ser1118Phe)
c.4301C>T (p.Ser1434Phe)
c.4298C>T (p.Ser1433Phe)
c.4217C>T (p.Ser1406Phe)
c.4148C>T (p.Ser1383Phe)
c.4016C>T (p.Ser1339Phe)
c.3884C>T (p.Ser1295Phe)
20g.32436750T>ACA510467604ASXL1c.4038T>A (p.Ser1346=)
c.3855T>A (p.Ser1285=)
n.6391T>A
c.1870-1680T>A (n.1870-1680T>A)
c.4023T>A (p.Ser1341=)
c.4035T>A (p.Ser1345=)
c.4008T>A (p.Ser1336=)
c.3954T>A (p.Ser1318=)
c.3354T>A (p.Ser1118=)
c.4302T>A (p.Ser1434=)
c.4299T>A (p.Ser1433=)
c.4218T>A (p.Ser1406=)
c.4149T>A (p.Ser1383=)
c.4017T>A (p.Ser1339=)
c.3885T>A (p.Ser1295=)
20g.32436750T>CCA510467605ASXL1c.4038T>C (p.Ser1346=)
c.3855T>C (p.Ser1285=)
n.6391T>C
c.1870-1680T>C (n.1870-1680T>C)
c.4023T>C (p.Ser1341=)
c.4035T>C (p.Ser1345=)
c.4008T>C (p.Ser1336=)
c.3954T>C (p.Ser1318=)
c.3354T>C (p.Ser1118=)
c.4302T>C (p.Ser1434=)
c.4299T>C (p.Ser1433=)
c.4218T>C (p.Ser1406=)
c.4149T>C (p.Ser1383=)
c.4017T>C (p.Ser1339=)
c.3885T>C (p.Ser1295=)
20g.32436750T>GCA510467606ASXL1c.4038T>G (p.Ser1346=)
c.3855T>G (p.Ser1285=)
n.6391T>G
c.1870-1680T>G (n.1870-1680T>G)
c.4023T>G (p.Ser1341=)
c.4035T>G (p.Ser1345=)
c.4008T>G (p.Ser1336=)
c.3954T>G (p.Ser1318=)
c.3354T>G (p.Ser1118=)
c.4302T>G (p.Ser1434=)
c.4299T>G (p.Ser1433=)
c.4218T>G (p.Ser1406=)
c.4149T>G (p.Ser1383=)
c.4017T>G (p.Ser1339=)
c.3885T>G (p.Ser1295=)
20g.32436751G>ACA408564311ASXL1c.4039G>A (p.Gly1347Ser)
c.3856G>A (p.Gly1286Ser)
n.6392G>A
c.1870-1679G>A (n.1870-1679G>A)
c.4024G>A (p.Gly1342Ser)
c.4036G>A (p.Gly1346Ser)
c.4009G>A (p.Gly1337Ser)
c.3955G>A (p.Gly1319Ser)
c.3355G>A (p.Gly1119Ser)
c.4303G>A (p.Gly1435Ser)
c.4300G>A (p.Gly1434Ser)
c.4219G>A (p.Gly1407Ser)
c.4150G>A (p.Gly1384Ser)
c.4018G>A (p.Gly1340Ser)
c.3886G>A (p.Gly1296Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32436751G>CCA408564312ASXL1c.4039G>C (p.Gly1347Arg)
c.3856G>C (p.Gly1286Arg)
n.6392G>C
c.1870-1679G>C (n.1870-1679G>C)
c.4024G>C (p.Gly1342Arg)
c.4036G>C (p.Gly1346Arg)
c.4009G>C (p.Gly1337Arg)
c.3955G>C (p.Gly1319Arg)
c.3355G>C (p.Gly1119Arg)
c.4303G>C (p.Gly1435Arg)
c.4300G>C (p.Gly1434Arg)
c.4219G>C (p.Gly1407Arg)
c.4150G>C (p.Gly1384Arg)
c.4018G>C (p.Gly1340Arg)
c.3886G>C (p.Gly1296Arg)
20g.32436751G=CA2360293846ASXL1c.4039G= (p.Gly1347=)
c.3856G= (p.Gly1286=)
n.6392G=
c.1870-1679G= (n.1870-1679G=)
c.4024G= (p.Gly1342=)
c.4036G= (p.Gly1346=)
c.4009G= (p.Gly1337=)
c.3955G= (p.Gly1319=)
c.3355G= (p.Gly1119=)
c.4303G= (p.Gly1435=)
c.4300G= (p.Gly1434=)
c.4219G= (p.Gly1407=)
c.4150G= (p.Gly1384=)
c.4018G= (p.Gly1340=)
c.3886G= (p.Gly1296=)
20g.32436751G>TCA408564313ASXL1c.4039G>T (p.Gly1347Cys)
c.3856G>T (p.Gly1286Cys)
n.6392G>T
c.1870-1679G>T (n.1870-1679G>T)
c.4024G>T (p.Gly1342Cys)
c.4036G>T (p.Gly1346Cys)
c.4009G>T (p.Gly1337Cys)
c.3955G>T (p.Gly1319Cys)
c.3355G>T (p.Gly1119Cys)
c.4303G>T (p.Gly1435Cys)
c.4300G>T (p.Gly1434Cys)
c.4219G>T (p.Gly1407Cys)
c.4150G>T (p.Gly1384Cys)
c.4018G>T (p.Gly1340Cys)
c.3886G>T (p.Gly1296Cys)
 gnomAD v4
20g.32436752G>ACA9808953ASXL1c.4040G>A (p.Gly1347Asp)
c.3857G>A (p.Gly1286Asp)
n.6393G>A
c.1870-1678G>A (n.1870-1678G>A)
c.4025G>A (p.Gly1342Asp)
c.4037G>A (p.Gly1346Asp)
c.4010G>A (p.Gly1337Asp)
c.3956G>A (p.Gly1319Asp)
c.3356G>A (p.Gly1119Asp)
c.4304G>A (p.Gly1435Asp)
c.4301G>A (p.Gly1434Asp)
c.4220G>A (p.Gly1407Asp)
c.4151G>A (p.Gly1384Asp)
c.4019G>A (p.Gly1340Asp)
c.3887G>A (p.Gly1296Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436752G>CCA408564314ASXL1c.4040G>C (p.Gly1347Ala)
c.3857G>C (p.Gly1286Ala)
n.6393G>C
c.1870-1678G>C (n.1870-1678G>C)
c.4025G>C (p.Gly1342Ala)
c.4037G>C (p.Gly1346Ala)
c.4010G>C (p.Gly1337Ala)
c.3956G>C (p.Gly1319Ala)
c.3356G>C (p.Gly1119Ala)
c.4304G>C (p.Gly1435Ala)
c.4301G>C (p.Gly1434Ala)
c.4220G>C (p.Gly1407Ala)
c.4151G>C (p.Gly1384Ala)
c.4019G>C (p.Gly1340Ala)
c.3887G>C (p.Gly1296Ala)
20g.32436752G=CA2360293847ASXL1c.4040G= (p.Gly1347=)
c.3857G= (p.Gly1286=)
n.6393G=
c.1870-1678G= (n.1870-1678G=)
c.4025G= (p.Gly1342=)
c.4037G= (p.Gly1346=)
c.4010G= (p.Gly1337=)
c.3956G= (p.Gly1319=)
c.3356G= (p.Gly1119=)
c.4304G= (p.Gly1435=)
c.4301G= (p.Gly1434=)
c.4220G= (p.Gly1407=)
c.4151G= (p.Gly1384=)
c.4019G= (p.Gly1340=)
c.3887G= (p.Gly1296=)
20g.32436752G>TCA408564315ASXL1c.4040G>T (p.Gly1347Val)
c.3857G>T (p.Gly1286Val)
n.6393G>T
c.1870-1678G>T (n.1870-1678G>T)
c.4025G>T (p.Gly1342Val)
c.4037G>T (p.Gly1346Val)
c.4010G>T (p.Gly1337Val)
c.3956G>T (p.Gly1319Val)
c.3356G>T (p.Gly1119Val)
c.4304G>T (p.Gly1435Val)
c.4301G>T (p.Gly1434Val)
c.4220G>T (p.Gly1407Val)
c.4151G>T (p.Gly1384Val)
c.4019G>T (p.Gly1340Val)
c.3887G>T (p.Gly1296Val)
 gnomAD v4
20g.32436753T>ACA510467608ASXL1c.4041T>A (p.Gly1347=)
c.3858T>A (p.Gly1286=)
n.6394T>A
c.1870-1677T>A (n.1870-1677T>A)
c.4026T>A (p.Gly1342=)
c.4038T>A (p.Gly1346=)
c.4011T>A (p.Gly1337=)
c.3957T>A (p.Gly1319=)
c.3357T>A (p.Gly1119=)
c.4305T>A (p.Gly1435=)
c.4302T>A (p.Gly1434=)
c.4221T>A (p.Gly1407=)
c.4152T>A (p.Gly1384=)
c.4020T>A (p.Gly1340=)
c.3888T>A (p.Gly1296=)
20g.32436753T>CCA510467610ASXL1c.4041T>C (p.Gly1347=)
c.3858T>C (p.Gly1286=)
n.6394T>C
c.1870-1677T>C (n.1870-1677T>C)
c.4026T>C (p.Gly1342=)
c.4038T>C (p.Gly1346=)
c.4011T>C (p.Gly1337=)
c.3957T>C (p.Gly1319=)
c.3357T>C (p.Gly1119=)
c.4305T>C (p.Gly1435=)
c.4302T>C (p.Gly1434=)
c.4221T>C (p.Gly1407=)
c.4152T>C (p.Gly1384=)
c.4020T>C (p.Gly1340=)
c.3888T>C (p.Gly1296=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436753T>GCA510467611ASXL1c.4041T>G (p.Gly1347=)
c.3858T>G (p.Gly1286=)
n.6394T>G
c.1870-1677T>G (n.1870-1677T>G)
c.4026T>G (p.Gly1342=)
c.4038T>G (p.Gly1346=)
c.4011T>G (p.Gly1337=)
c.3957T>G (p.Gly1319=)
c.3357T>G (p.Gly1119=)
c.4305T>G (p.Gly1435=)
c.4302T>G (p.Gly1434=)
c.4221T>G (p.Gly1407=)
c.4152T>G (p.Gly1384=)
c.4020T>G (p.Gly1340=)
c.3888T>G (p.Gly1296=)
20g.32436753T=CA2360293848ASXL1c.4041T= (p.Gly1347=)
c.3858T= (p.Gly1286=)
n.6394T=
c.1870-1677T= (n.1870-1677T=)
c.4026T= (p.Gly1342=)
c.4038T= (p.Gly1346=)
c.4011T= (p.Gly1337=)
c.3957T= (p.Gly1319=)
c.3357T= (p.Gly1119=)
c.4305T= (p.Gly1435=)
c.4302T= (p.Gly1434=)
c.4221T= (p.Gly1407=)
c.4152T= (p.Gly1384=)
c.4020T= (p.Gly1340=)
c.3888T= (p.Gly1296=)
20g.32436754G>ACA408564316ASXL1c.4042G>A (p.Gly1348Arg)
c.3859G>A (p.Gly1287Arg)
n.6395G>A
c.1870-1676G>A (n.1870-1676G>A)
c.4027G>A (p.Gly1343Arg)
c.4039G>A (p.Gly1347Arg)
c.4012G>A (p.Gly1338Arg)
c.3958G>A (p.Gly1320Arg)
c.3358G>A (p.Gly1120Arg)
c.4306G>A (p.Gly1436Arg)
c.4303G>A (p.Gly1435Arg)
c.4222G>A (p.Gly1408Arg)
c.4153G>A (p.Gly1385Arg)
c.4021G>A (p.Gly1341Arg)
c.3889G>A (p.Gly1297Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436754G>CCA408564318ASXL1c.4042G>C (p.Gly1348Arg)
c.3859G>C (p.Gly1287Arg)
n.6395G>C
c.1870-1676G>C (n.1870-1676G>C)
c.4027G>C (p.Gly1343Arg)
c.4039G>C (p.Gly1347Arg)
c.4012G>C (p.Gly1338Arg)
c.3958G>C (p.Gly1320Arg)
c.3358G>C (p.Gly1120Arg)
c.4306G>C (p.Gly1436Arg)
c.4303G>C (p.Gly1435Arg)
c.4222G>C (p.Gly1408Arg)
c.4153G>C (p.Gly1385Arg)
c.4021G>C (p.Gly1341Arg)
c.3889G>C (p.Gly1297Arg)
20g.32436754G=CA2360293849ASXL1c.4042G= (p.Gly1348=)
c.3859G= (p.Gly1287=)
n.6395G=
c.1870-1676G= (n.1870-1676G=)
c.4027G= (p.Gly1343=)
c.4039G= (p.Gly1347=)
c.4012G= (p.Gly1338=)
c.3958G= (p.Gly1320=)
c.3358G= (p.Gly1120=)
c.4306G= (p.Gly1436=)
c.4303G= (p.Gly1435=)
c.4222G= (p.Gly1408=)
c.4153G= (p.Gly1385=)
c.4021G= (p.Gly1341=)
c.3889G= (p.Gly1297=)
20g.32436754G>TCA408564317ASXL1c.4042G>T (p.Gly1348Trp)
c.3859G>T (p.Gly1287Trp)
n.6395G>T
c.1870-1676G>T (n.1870-1676G>T)
c.4027G>T (p.Gly1343Trp)
c.4039G>T (p.Gly1347Trp)
c.4012G>T (p.Gly1338Trp)
c.3958G>T (p.Gly1320Trp)
c.3358G>T (p.Gly1120Trp)
c.4306G>T (p.Gly1436Trp)
c.4303G>T (p.Gly1435Trp)
c.4222G>T (p.Gly1408Trp)
c.4153G>T (p.Gly1385Trp)
c.4021G>T (p.Gly1341Trp)
c.3889G>T (p.Gly1297Trp)
20g.32436755G>ACA408564319ASXL1c.4043G>A (p.Gly1348Glu)
c.3860G>A (p.Gly1287Glu)
n.6396G>A
c.1870-1675G>A (n.1870-1675G>A)
c.4028G>A (p.Gly1343Glu)
c.4040G>A (p.Gly1347Glu)
c.4013G>A (p.Gly1338Glu)
c.3959G>A (p.Gly1320Glu)
c.3359G>A (p.Gly1120Glu)
c.4307G>A (p.Gly1436Glu)
c.4304G>A (p.Gly1435Glu)
c.4223G>A (p.Gly1408Glu)
c.4154G>A (p.Gly1385Glu)
c.4022G>A (p.Gly1341Glu)
c.3890G>A (p.Gly1297Glu)
 dbSNP gnomAD v2
20g.32436755G>CCA408564320ASXL1c.4043G>C (p.Gly1348Ala)
c.3860G>C (p.Gly1287Ala)
n.6396G>C
c.1870-1675G>C (n.1870-1675G>C)
c.4028G>C (p.Gly1343Ala)
c.4040G>C (p.Gly1347Ala)
c.4013G>C (p.Gly1338Ala)
c.3959G>C (p.Gly1320Ala)
c.3359G>C (p.Gly1120Ala)
c.4307G>C (p.Gly1436Ala)
c.4304G>C (p.Gly1435Ala)
c.4223G>C (p.Gly1408Ala)
c.4154G>C (p.Gly1385Ala)
c.4022G>C (p.Gly1341Ala)
c.3890G>C (p.Gly1297Ala)
20g.32436755G=CA2360293850ASXL1c.4043G= (p.Gly1348=)
c.3860G= (p.Gly1287=)
n.6396G=
c.1870-1675G= (n.1870-1675G=)
c.4028G= (p.Gly1343=)
c.4040G= (p.Gly1347=)
c.4013G= (p.Gly1338=)
c.3959G= (p.Gly1320=)
c.3359G= (p.Gly1120=)
c.4307G= (p.Gly1436=)
c.4304G= (p.Gly1435=)
c.4223G= (p.Gly1408=)
c.4154G= (p.Gly1385=)
c.4022G= (p.Gly1341=)
c.3890G= (p.Gly1297=)
20g.32436755G>TCA408564321ASXL1c.4043G>T (p.Gly1348Val)
c.3860G>T (p.Gly1287Val)
n.6396G>T
c.1870-1675G>T (n.1870-1675G>T)
c.4028G>T (p.Gly1343Val)
c.4040G>T (p.Gly1347Val)
c.4013G>T (p.Gly1338Val)
c.3959G>T (p.Gly1320Val)
c.3359G>T (p.Gly1120Val)
c.4307G>T (p.Gly1436Val)
c.4304G>T (p.Gly1435Val)
c.4223G>T (p.Gly1408Val)
c.4154G>T (p.Gly1385Val)
c.4022G>T (p.Gly1341Val)
c.3890G>T (p.Gly1297Val)
20g.32436756G>ACA510467618ASXL1c.4044G>A (p.Gly1348=)
c.3861G>A (p.Gly1287=)
n.6397G>A
c.1870-1674G>A (n.1870-1674G>A)
c.4029G>A (p.Gly1343=)
c.4041G>A (p.Gly1347=)
c.4014G>A (p.Gly1338=)
c.3960G>A (p.Gly1320=)
c.3360G>A (p.Gly1120=)
c.4308G>A (p.Gly1436=)
c.4305G>A (p.Gly1435=)
c.4224G>A (p.Gly1408=)
c.4155G>A (p.Gly1385=)
c.4023G>A (p.Gly1341=)
c.3891G>A (p.Gly1297=)
 dbSNP gnomAD v4
20g.32436756G>CCA510467616ASXL1c.4044G>C (p.Gly1348=)
c.3861G>C (p.Gly1287=)
n.6397G>C
c.1870-1674G>C (n.1870-1674G>C)
c.4029G>C (p.Gly1343=)
c.4041G>C (p.Gly1347=)
c.4014G>C (p.Gly1338=)
c.3960G>C (p.Gly1320=)
c.3360G>C (p.Gly1120=)
c.4308G>C (p.Gly1436=)
c.4305G>C (p.Gly1435=)
c.4224G>C (p.Gly1408=)
c.4155G>C (p.Gly1385=)
c.4023G>C (p.Gly1341=)
c.3891G>C (p.Gly1297=)
20g.32436756G>TCA510467617ASXL1c.4044G>T (p.Gly1348=)
c.3861G>T (p.Gly1287=)
n.6397G>T
c.1870-1674G>T (n.1870-1674G>T)
c.4029G>T (p.Gly1343=)
c.4041G>T (p.Gly1347=)
c.4014G>T (p.Gly1338=)
c.3960G>T (p.Gly1320=)
c.3360G>T (p.Gly1120=)
c.4308G>T (p.Gly1436=)
c.4305G>T (p.Gly1435=)
c.4224G>T (p.Gly1408=)
c.4155G>T (p.Gly1385=)
c.4023G>T (p.Gly1341=)
c.3891G>T (p.Gly1297=)
 gnomAD v4
20g.32436757G>ACA408564322ASXL1c.4045G>A (p.Val1349Ile)
c.3862G>A (p.Val1288Ile)
n.6398G>A
c.1870-1673G>A (n.1870-1673G>A)
c.4030G>A (p.Val1344Ile)
c.4042G>A (p.Val1348Ile)
c.4015G>A (p.Val1339Ile)
c.3961G>A (p.Val1321Ile)
c.3361G>A (p.Val1121Ile)
c.4309G>A (p.Val1437Ile)
c.4306G>A (p.Val1436Ile)
c.4225G>A (p.Val1409Ile)
c.4156G>A (p.Val1386Ile)
c.4024G>A (p.Val1342Ile)
c.3892G>A (p.Val1298Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.32436757G>CCA408564323ASXL1c.4045G>C (p.Val1349Leu)
c.3862G>C (p.Val1288Leu)
n.6398G>C
c.1870-1673G>C (n.1870-1673G>C)
c.4030G>C (p.Val1344Leu)
c.4042G>C (p.Val1348Leu)
c.4015G>C (p.Val1339Leu)
c.3961G>C (p.Val1321Leu)
c.3361G>C (p.Val1121Leu)
c.4309G>C (p.Val1437Leu)
c.4306G>C (p.Val1436Leu)
c.4225G>C (p.Val1409Leu)
c.4156G>C (p.Val1386Leu)
c.4024G>C (p.Val1342Leu)
c.3892G>C (p.Val1298Leu)
20g.32436757G=CA2360293851ASXL1c.4045G= (p.Val1349=)
c.3862G= (p.Val1288=)
n.6398G=
c.1870-1673G= (n.1870-1673G=)
c.4030G= (p.Val1344=)
c.4042G= (p.Val1348=)
c.4015G= (p.Val1339=)
c.3961G= (p.Val1321=)
c.3361G= (p.Val1121=)
c.4309G= (p.Val1437=)
c.4306G= (p.Val1436=)
c.4225G= (p.Val1409=)
c.4156G= (p.Val1386=)
c.4024G= (p.Val1342=)
c.3892G= (p.Val1298=)
20g.32436757G>TCA408564324ASXL1c.4045G>T (p.Val1349Leu)
c.3862G>T (p.Val1288Leu)
n.6398G>T
c.1870-1673G>T (n.1870-1673G>T)
c.4030G>T (p.Val1344Leu)
c.4042G>T (p.Val1348Leu)
c.4015G>T (p.Val1339Leu)
c.3961G>T (p.Val1321Leu)
c.3361G>T (p.Val1121Leu)
c.4309G>T (p.Val1437Leu)
c.4306G>T (p.Val1436Leu)
c.4225G>T (p.Val1409Leu)
c.4156G>T (p.Val1386Leu)
c.4024G>T (p.Val1342Leu)
c.3892G>T (p.Val1298Leu)
20g.32436758T>ACA408564325ASXL1c.4046T>A (p.Val1349Glu)
c.3863T>A (p.Val1288Glu)
n.6399T>A
c.1870-1672T>A (n.1870-1672T>A)
c.4031T>A (p.Val1344Glu)
c.4043T>A (p.Val1348Glu)
c.4016T>A (p.Val1339Glu)
c.3962T>A (p.Val1321Glu)
c.3362T>A (p.Val1121Glu)
c.4310T>A (p.Val1437Glu)
c.4307T>A (p.Val1436Glu)
c.4226T>A (p.Val1409Glu)
c.4157T>A (p.Val1386Glu)
c.4025T>A (p.Val1342Glu)
c.3893T>A (p.Val1298Glu)
20g.32436758T>CCA408564326ASXL1c.4046T>C (p.Val1349Ala)
c.3863T>C (p.Val1288Ala)
n.6399T>C
c.1870-1672T>C (n.1870-1672T>C)
c.4031T>C (p.Val1344Ala)
c.4043T>C (p.Val1348Ala)
c.4016T>C (p.Val1339Ala)
c.3962T>C (p.Val1321Ala)
c.3362T>C (p.Val1121Ala)
c.4310T>C (p.Val1437Ala)
c.4307T>C (p.Val1436Ala)
c.4226T>C (p.Val1409Ala)
c.4157T>C (p.Val1386Ala)
c.4025T>C (p.Val1342Ala)
c.3893T>C (p.Val1298Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436758T>GCA408564327ASXL1c.4046T>G (p.Val1349Gly)
c.3863T>G (p.Val1288Gly)
n.6399T>G
c.1870-1672T>G (n.1870-1672T>G)
c.4031T>G (p.Val1344Gly)
c.4043T>G (p.Val1348Gly)
c.4016T>G (p.Val1339Gly)
c.3962T>G (p.Val1321Gly)
c.3362T>G (p.Val1121Gly)
c.4310T>G (p.Val1437Gly)
c.4307T>G (p.Val1436Gly)
c.4226T>G (p.Val1409Gly)
c.4157T>G (p.Val1386Gly)
c.4025T>G (p.Val1342Gly)
c.3893T>G (p.Val1298Gly)
20g.32436758T=CA2360293852ASXL1c.4046T= (p.Val1349=)
c.3863T= (p.Val1288=)
n.6399T=
c.1870-1672T= (n.1870-1672T=)
c.4031T= (p.Val1344=)
c.4043T= (p.Val1348=)
c.4016T= (p.Val1339=)
c.3962T= (p.Val1321=)
c.3362T= (p.Val1121=)
c.4310T= (p.Val1437=)
c.4307T= (p.Val1436=)
c.4226T= (p.Val1409=)
c.4157T= (p.Val1386=)
c.4025T= (p.Val1342=)
c.3893T= (p.Val1298=)
20g.32436759A=CA2360293853ASXL1c.4047A= (p.Val1349=)
c.3864A= (p.Val1288=)
n.6400A=
c.1870-1671A= (n.1870-1671A=)
c.4032A= (p.Val1344=)
c.4044A= (p.Val1348=)
c.4017A= (p.Val1339=)
c.3963A= (p.Val1321=)
c.3363A= (p.Val1121=)
c.4311A= (p.Val1437=)
c.4308A= (p.Val1436=)
c.4227A= (p.Val1409=)
c.4158A= (p.Val1386=)
c.4026A= (p.Val1342=)
c.3894A= (p.Val1298=)
20g.32436759A>CCA510467624ASXL1c.4047A>C (p.Val1349=)
c.3864A>C (p.Val1288=)
n.6400A>C
c.1870-1671A>C (n.1870-1671A>C)
c.4032A>C (p.Val1344=)
c.4044A>C (p.Val1348=)
c.4017A>C (p.Val1339=)
c.3963A>C (p.Val1321=)
c.3363A>C (p.Val1121=)
c.4311A>C (p.Val1437=)
c.4308A>C (p.Val1436=)
c.4227A>C (p.Val1409=)
c.4158A>C (p.Val1386=)
c.4026A>C (p.Val1342=)
c.3894A>C (p.Val1298=)
20g.32436759A>GCA510467623ASXL1c.4047A>G (p.Val1349=)
c.3864A>G (p.Val1288=)
n.6400A>G
c.1870-1671A>G (n.1870-1671A>G)
c.4032A>G (p.Val1344=)
c.4044A>G (p.Val1348=)
c.4017A>G (p.Val1339=)
c.3963A>G (p.Val1321=)
c.3363A>G (p.Val1121=)
c.4311A>G (p.Val1437=)
c.4308A>G (p.Val1436=)
c.4227A>G (p.Val1409=)
c.4158A>G (p.Val1386=)
c.4026A>G (p.Val1342=)
c.3894A>G (p.Val1298=)
 dbSNP
20g.32436759A>TCA510467622ASXL1c.4047A>T (p.Val1349=)
c.3864A>T (p.Val1288=)
n.6400A>T
c.1870-1671A>T (n.1870-1671A>T)
c.4032A>T (p.Val1344=)
c.4044A>T (p.Val1348=)
c.4017A>T (p.Val1339=)
c.3963A>T (p.Val1321=)
c.3363A>T (p.Val1121=)
c.4311A>T (p.Val1437=)
c.4308A>T (p.Val1436=)
c.4227A>T (p.Val1409=)
c.4158A>T (p.Val1386=)
c.4026A>T (p.Val1342=)
c.3894A>T (p.Val1298=)
20g.32436760C>ACA408564328ASXL1c.4048C>A (p.Gln1350Lys)
c.3865C>A (p.Gln1289Lys)
n.6401C>A
c.1870-1670C>A (n.1870-1670C>A)
c.4033C>A (p.Gln1345Lys)
c.4045C>A (p.Gln1349Lys)
c.4018C>A (p.Gln1340Lys)
c.3964C>A (p.Gln1322Lys)
c.3364C>A (p.Gln1122Lys)
c.4312C>A (p.Gln1438Lys)
c.4309C>A (p.Gln1437Lys)
c.4228C>A (p.Gln1410Lys)
c.4159C>A (p.Gln1387Lys)
c.4027C>A (p.Gln1343Lys)
c.3895C>A (p.Gln1299Lys)
 dbSNP
20g.32436760C=CA2360293854ASXL1c.4048C= (p.Gln1350=)
c.3865C= (p.Gln1289=)
n.6401C=
c.1870-1670C= (n.1870-1670C=)
c.4033C= (p.Gln1345=)
c.4045C= (p.Gln1349=)
c.4018C= (p.Gln1340=)
c.3964C= (p.Gln1322=)
c.3364C= (p.Gln1122=)
c.4312C= (p.Gln1438=)
c.4309C= (p.Gln1437=)
c.4228C= (p.Gln1410=)
c.4159C= (p.Gln1387=)
c.4027C= (p.Gln1343=)
c.3895C= (p.Gln1299=)
20g.32436760C>GCA408564329ASXL1c.4048C>G (p.Gln1350Glu)
c.3865C>G (p.Gln1289Glu)
n.6401C>G
c.1870-1670C>G (n.1870-1670C>G)
c.4033C>G (p.Gln1345Glu)
c.4045C>G (p.Gln1349Glu)
c.4018C>G (p.Gln1340Glu)
c.3964C>G (p.Gln1322Glu)
c.3364C>G (p.Gln1122Glu)
c.4312C>G (p.Gln1438Glu)
c.4309C>G (p.Gln1437Glu)
c.4228C>G (p.Gln1410Glu)
c.4159C>G (p.Gln1387Glu)
c.4027C>G (p.Gln1343Glu)
c.3895C>G (p.Gln1299Glu)
20g.32436760C>TCA9808954ASXL1c.4048C>T (p.Gln1350Ter)
c.3865C>T (p.Gln1289Ter)
n.6401C>T
c.1870-1670C>T (n.1870-1670C>T)
c.4033C>T (p.Gln1345Ter)
c.4045C>T (p.Gln1349Ter)
c.4018C>T (p.Gln1340Ter)
c.3964C>T (p.Gln1322Ter)
c.3364C>T (p.Gln1122Ter)
c.4312C>T (p.Gln1438Ter)
c.4309C>T (p.Gln1437Ter)
c.4228C>T (p.Gln1410Ter)
c.4159C>T (p.Gln1387Ter)
c.4027C>T (p.Gln1343Ter)
c.3895C>T (p.Gln1299Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436761A=CA2360293855ASXL1c.4049A= (p.Gln1350=)
c.3866A= (p.Gln1289=)
n.6402A=
c.1870-1669A= (n.1870-1669A=)
c.4034A= (p.Gln1345=)
c.4046A= (p.Gln1349=)
c.4019A= (p.Gln1340=)
c.3965A= (p.Gln1322=)
c.3365A= (p.Gln1122=)
c.4313A= (p.Gln1438=)
c.4310A= (p.Gln1437=)
c.4229A= (p.Gln1410=)
c.4160A= (p.Gln1387=)
c.4028A= (p.Gln1343=)
c.3896A= (p.Gln1299=)
20g.32436761A>CCA408564331ASXL1c.4049A>C (p.Gln1350Pro)
c.3866A>C (p.Gln1289Pro)
n.6402A>C
c.1870-1669A>C (n.1870-1669A>C)
c.4034A>C (p.Gln1345Pro)
c.4046A>C (p.Gln1349Pro)
c.4019A>C (p.Gln1340Pro)
c.3965A>C (p.Gln1322Pro)
c.3365A>C (p.Gln1122Pro)
c.4313A>C (p.Gln1438Pro)
c.4310A>C (p.Gln1437Pro)
c.4229A>C (p.Gln1410Pro)
c.4160A>C (p.Gln1387Pro)
c.4028A>C (p.Gln1343Pro)
c.3896A>C (p.Gln1299Pro)
20g.32436761A>GCA9808955ASXL1c.4049A>G (p.Gln1350Arg)
c.3866A>G (p.Gln1289Arg)
n.6402A>G
c.1870-1669A>G (n.1870-1669A>G)
c.4034A>G (p.Gln1345Arg)
c.4046A>G (p.Gln1349Arg)
c.4019A>G (p.Gln1340Arg)
c.3965A>G (p.Gln1322Arg)
c.3365A>G (p.Gln1122Arg)
c.4313A>G (p.Gln1438Arg)
c.4310A>G (p.Gln1437Arg)
c.4229A>G (p.Gln1410Arg)
c.4160A>G (p.Gln1387Arg)
c.4028A>G (p.Gln1343Arg)
c.3896A>G (p.Gln1299Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436761A>TCA408564330ASXL1c.4049A>T (p.Gln1350Leu)
c.3866A>T (p.Gln1289Leu)
n.6402A>T
c.1870-1669A>T (n.1870-1669A>T)
c.4034A>T (p.Gln1345Leu)
c.4046A>T (p.Gln1349Leu)
c.4019A>T (p.Gln1340Leu)
c.3965A>T (p.Gln1322Leu)
c.3365A>T (p.Gln1122Leu)
c.4313A>T (p.Gln1438Leu)
c.4310A>T (p.Gln1437Leu)
c.4229A>T (p.Gln1410Leu)
c.4160A>T (p.Gln1387Leu)
c.4028A>T (p.Gln1343Leu)
c.3896A>T (p.Gln1299Leu)
20g.32436762G>ACA510467628ASXL1c.4050G>A (p.Gln1350=)
c.3867G>A (p.Gln1289=)
n.6403G>A
c.1870-1668G>A (n.1870-1668G>A)
c.4035G>A (p.Gln1345=)
c.4047G>A (p.Gln1349=)
c.4020G>A (p.Gln1340=)
c.3966G>A (p.Gln1322=)
c.3366G>A (p.Gln1122=)
c.4314G>A (p.Gln1438=)
c.4311G>A (p.Gln1437=)
c.4230G>A (p.Gln1410=)
c.4161G>A (p.Gln1387=)
c.4029G>A (p.Gln1343=)
c.3897G>A (p.Gln1299=)
 gnomAD v4
20g.32436762G>CCA408564332ASXL1c.4050G>C (p.Gln1350His)
c.3867G>C (p.Gln1289His)
n.6403G>C
c.1870-1668G>C (n.1870-1668G>C)
c.4035G>C (p.Gln1345His)
c.4047G>C (p.Gln1349His)
c.4020G>C (p.Gln1340His)
c.3966G>C (p.Gln1322His)
c.3366G>C (p.Gln1122His)
c.4314G>C (p.Gln1438His)
c.4311G>C (p.Gln1437His)
c.4230G>C (p.Gln1410His)
c.4161G>C (p.Gln1387His)
c.4029G>C (p.Gln1343His)
c.3897G>C (p.Gln1299His)
20g.32436762G=CA2360293856ASXL1c.4050G= (p.Gln1350=)
c.3867G= (p.Gln1289=)
n.6403G=
c.1870-1668G= (n.1870-1668G=)
c.4035G= (p.Gln1345=)
c.4047G= (p.Gln1349=)
c.4020G= (p.Gln1340=)
c.3966G= (p.Gln1322=)
c.3366G= (p.Gln1122=)
c.4314G= (p.Gln1438=)
c.4311G= (p.Gln1437=)
c.4230G= (p.Gln1410=)
c.4161G= (p.Gln1387=)
c.4029G= (p.Gln1343=)
c.3897G= (p.Gln1299=)
20g.32436762G>TCA408564333ASXL1c.4050G>T (p.Gln1350His)
c.3867G>T (p.Gln1289His)
n.6403G>T
c.1870-1668G>T (n.1870-1668G>T)
c.4035G>T (p.Gln1345His)
c.4047G>T (p.Gln1349His)
c.4020G>T (p.Gln1340His)
c.3966G>T (p.Gln1322His)
c.3366G>T (p.Gln1122His)
c.4314G>T (p.Gln1438His)
c.4311G>T (p.Gln1437His)
c.4230G>T (p.Gln1410His)
c.4161G>T (p.Gln1387His)
c.4029G>T (p.Gln1343His)
c.3897G>T (p.Gln1299His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436763A=CA2360293857ASXL1c.4051A= (p.Thr1351=)
c.3868A= (p.Thr1290=)
n.6404A=
c.1870-1667A= (n.1870-1667A=)
c.4036A= (p.Thr1346=)
c.4048A= (p.Thr1350=)
c.4021A= (p.Thr1341=)
c.3967A= (p.Thr1323=)
c.3367A= (p.Thr1123=)
c.4315A= (p.Thr1439=)
c.4312A= (p.Thr1438=)
c.4231A= (p.Thr1411=)
c.4162A= (p.Thr1388=)
c.4030A= (p.Thr1344=)
c.3898A= (p.Thr1300=)
20g.32436763A>CCA313926371ASXL1c.4051A>C (p.Thr1351Pro)
c.3868A>C (p.Thr1290Pro)
n.6404A>C
c.1870-1667A>C (n.1870-1667A>C)
c.4036A>C (p.Thr1346Pro)
c.4048A>C (p.Thr1350Pro)
c.4021A>C (p.Thr1341Pro)
c.3967A>C (p.Thr1323Pro)
c.3367A>C (p.Thr1123Pro)
c.4315A>C (p.Thr1439Pro)
c.4312A>C (p.Thr1438Pro)
c.4231A>C (p.Thr1411Pro)
c.4162A>C (p.Thr1388Pro)
c.4030A>C (p.Thr1344Pro)
c.3898A>C (p.Thr1300Pro)
 dbSNP
20g.32436763A>GCA313926372ASXL1c.4051A>G (p.Thr1351Ala)
c.3868A>G (p.Thr1290Ala)
n.6404A>G
c.1870-1667A>G (n.1870-1667A>G)
c.4036A>G (p.Thr1346Ala)
c.4048A>G (p.Thr1350Ala)
c.4021A>G (p.Thr1341Ala)
c.3967A>G (p.Thr1323Ala)
c.3367A>G (p.Thr1123Ala)
c.4315A>G (p.Thr1439Ala)
c.4312A>G (p.Thr1438Ala)
c.4231A>G (p.Thr1411Ala)
c.4162A>G (p.Thr1388Ala)
c.4030A>G (p.Thr1344Ala)
c.3898A>G (p.Thr1300Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436763A>TCA408564334ASXL1c.4051A>T (p.Thr1351Ser)
c.3868A>T (p.Thr1290Ser)
n.6404A>T
c.1870-1667A>T (n.1870-1667A>T)
c.4036A>T (p.Thr1346Ser)
c.4048A>T (p.Thr1350Ser)
c.4021A>T (p.Thr1341Ser)
c.3967A>T (p.Thr1323Ser)
c.3367A>T (p.Thr1123Ser)
c.4315A>T (p.Thr1439Ser)
c.4312A>T (p.Thr1438Ser)
c.4231A>T (p.Thr1411Ser)
c.4162A>T (p.Thr1388Ser)
c.4030A>T (p.Thr1344Ser)
c.3898A>T (p.Thr1300Ser)
20g.32436764C>ACA408564335ASXL1c.4052C>A (p.Thr1351Asn)
c.3869C>A (p.Thr1290Asn)
n.6405C>A
c.1870-1666C>A (n.1870-1666C>A)
c.4037C>A (p.Thr1346Asn)
c.4049C>A (p.Thr1350Asn)
c.4022C>A (p.Thr1341Asn)
c.3968C>A (p.Thr1323Asn)
c.3368C>A (p.Thr1123Asn)
c.4316C>A (p.Thr1439Asn)
c.4313C>A (p.Thr1438Asn)
c.4232C>A (p.Thr1411Asn)
c.4163C>A (p.Thr1388Asn)
c.4031C>A (p.Thr1344Asn)
c.3899C>A (p.Thr1300Asn)
 dbSNP
20g.32436764C=CA2360293858ASXL1c.4052C= (p.Thr1351=)
c.3869C= (p.Thr1290=)
n.6405C=
c.1870-1666C= (n.1870-1666C=)
c.4037C= (p.Thr1346=)
c.4049C= (p.Thr1350=)
c.4022C= (p.Thr1341=)
c.3968C= (p.Thr1323=)
c.3368C= (p.Thr1123=)
c.4316C= (p.Thr1439=)
c.4313C= (p.Thr1438=)
c.4232C= (p.Thr1411=)
c.4163C= (p.Thr1388=)
c.4031C= (p.Thr1344=)
c.3899C= (p.Thr1300=)
20g.32436764C>GCA408564336ASXL1c.4052C>G (p.Thr1351Ser)
c.3869C>G (p.Thr1290Ser)
n.6405C>G
c.1870-1666C>G (n.1870-1666C>G)
c.4037C>G (p.Thr1346Ser)
c.4049C>G (p.Thr1350Ser)
c.4022C>G (p.Thr1341Ser)
c.3968C>G (p.Thr1323Ser)
c.3368C>G (p.Thr1123Ser)
c.4316C>G (p.Thr1439Ser)
c.4313C>G (p.Thr1438Ser)
c.4232C>G (p.Thr1411Ser)
c.4163C>G (p.Thr1388Ser)
c.4031C>G (p.Thr1344Ser)
c.3899C>G (p.Thr1300Ser)
20g.32436764C>TCA408564337ASXL1c.4052C>T (p.Thr1351Ile)
c.3869C>T (p.Thr1290Ile)
n.6405C>T
c.1870-1666C>T (n.1870-1666C>T)
c.4037C>T (p.Thr1346Ile)
c.4049C>T (p.Thr1350Ile)
c.4022C>T (p.Thr1341Ile)
c.3968C>T (p.Thr1323Ile)
c.3368C>T (p.Thr1123Ile)
c.4316C>T (p.Thr1439Ile)
c.4313C>T (p.Thr1438Ile)
c.4232C>T (p.Thr1411Ile)
c.4163C>T (p.Thr1388Ile)
c.4031C>T (p.Thr1344Ile)
c.3899C>T (p.Thr1300Ile)
 dbSNP
20g.32436765T>ACA510467630ASXL1c.4053T>A (p.Thr1351=)
c.3870T>A (p.Thr1290=)
n.6406T>A
c.1870-1665T>A (n.1870-1665T>A)
c.4038T>A (p.Thr1346=)
c.4050T>A (p.Thr1350=)
c.4023T>A (p.Thr1341=)
c.3969T>A (p.Thr1323=)
c.3369T>A (p.Thr1123=)
c.4317T>A (p.Thr1439=)
c.4314T>A (p.Thr1438=)
c.4233T>A (p.Thr1411=)
c.4164T>A (p.Thr1388=)
c.4032T>A (p.Thr1344=)
c.3900T>A (p.Thr1300=)
20g.32436765T>CCA510467631ASXL1c.4053T>C (p.Thr1351=)
c.3870T>C (p.Thr1290=)
n.6406T>C
c.1870-1665T>C (n.1870-1665T>C)
c.4038T>C (p.Thr1346=)
c.4050T>C (p.Thr1350=)
c.4023T>C (p.Thr1341=)
c.3969T>C (p.Thr1323=)
c.3369T>C (p.Thr1123=)
c.4317T>C (p.Thr1439=)
c.4314T>C (p.Thr1438=)
c.4233T>C (p.Thr1411=)
c.4164T>C (p.Thr1388=)
c.4032T>C (p.Thr1344=)
c.3900T>C (p.Thr1300=)
20g.32436765T>GCA510467632ASXL1c.4053T>G (p.Thr1351=)
c.3870T>G (p.Thr1290=)
n.6406T>G
c.1870-1665T>G (n.1870-1665T>G)
c.4038T>G (p.Thr1346=)
c.4050T>G (p.Thr1350=)
c.4023T>G (p.Thr1341=)
c.3969T>G (p.Thr1323=)
c.3369T>G (p.Thr1123=)
c.4317T>G (p.Thr1439=)
c.4314T>G (p.Thr1438=)
c.4233T>G (p.Thr1411=)
c.4164T>G (p.Thr1388=)
c.4032T>G (p.Thr1344=)
c.3900T>G (p.Thr1300=)
20g.32436766C>ACA408564338ASXL1c.4054C>A (p.Pro1352Thr)
c.3871C>A (p.Pro1291Thr)
n.6407C>A
c.1870-1664C>A (n.1870-1664C>A)
c.4039C>A (p.Pro1347Thr)
c.4051C>A (p.Pro1351Thr)
c.4024C>A (p.Pro1342Thr)
c.3970C>A (p.Pro1324Thr)
c.3370C>A (p.Pro1124Thr)
c.4318C>A (p.Pro1440Thr)
c.4315C>A (p.Pro1439Thr)
c.4234C>A (p.Pro1412Thr)
c.4165C>A (p.Pro1389Thr)
c.4033C>A (p.Pro1345Thr)
c.3901C>A (p.Pro1301Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.32436766C=CA2360293859ASXL1c.4054C= (p.Pro1352=)
c.3871C= (p.Pro1291=)
n.6407C=
c.1870-1664C= (n.1870-1664C=)
c.4039C= (p.Pro1347=)
c.4051C= (p.Pro1351=)
c.4024C= (p.Pro1342=)
c.3970C= (p.Pro1324=)
c.3370C= (p.Pro1124=)
c.4318C= (p.Pro1440=)
c.4315C= (p.Pro1439=)
c.4234C= (p.Pro1412=)
c.4165C= (p.Pro1389=)
c.4033C= (p.Pro1345=)
c.3901C= (p.Pro1301=)
20g.32436766C>GCA408564339ASXL1c.4054C>G (p.Pro1352Ala)
c.3871C>G (p.Pro1291Ala)
n.6407C>G
c.1870-1664C>G (n.1870-1664C>G)
c.4039C>G (p.Pro1347Ala)
c.4051C>G (p.Pro1351Ala)
c.4024C>G (p.Pro1342Ala)
c.3970C>G (p.Pro1324Ala)
c.3370C>G (p.Pro1124Ala)
c.4318C>G (p.Pro1440Ala)
c.4315C>G (p.Pro1439Ala)
c.4234C>G (p.Pro1412Ala)
c.4165C>G (p.Pro1389Ala)
c.4033C>G (p.Pro1345Ala)
c.3901C>G (p.Pro1301Ala)
20g.32436766C>TCA408564340ASXL1c.4054C>T (p.Pro1352Ser)
c.3871C>T (p.Pro1291Ser)
n.6407C>T
c.1870-1664C>T (n.1870-1664C>T)
c.4039C>T (p.Pro1347Ser)
c.4051C>T (p.Pro1351Ser)
c.4024C>T (p.Pro1342Ser)
c.3970C>T (p.Pro1324Ser)
c.3370C>T (p.Pro1124Ser)
c.4318C>T (p.Pro1440Ser)
c.4315C>T (p.Pro1439Ser)
c.4234C>T (p.Pro1412Ser)
c.4165C>T (p.Pro1389Ser)
c.4033C>T (p.Pro1345Ser)
c.3901C>T (p.Pro1301Ser)
 gnomAD v4
20g.32436767C>ACA408564341ASXL1c.4055C>A (p.Pro1352Gln)
c.3872C>A (p.Pro1291Gln)
n.6408C>A
c.1870-1663C>A (n.1870-1663C>A)
c.4040C>A (p.Pro1347Gln)
c.4052C>A (p.Pro1351Gln)
c.4025C>A (p.Pro1342Gln)
c.3971C>A (p.Pro1324Gln)
c.3371C>A (p.Pro1124Gln)
c.4319C>A (p.Pro1440Gln)
c.4316C>A (p.Pro1439Gln)
c.4235C>A (p.Pro1412Gln)
c.4166C>A (p.Pro1389Gln)
c.4034C>A (p.Pro1345Gln)
c.3902C>A (p.Pro1301Gln)
 gnomAD v4
20g.32436767C>GCA408564342ASXL1c.4055C>G (p.Pro1352Arg)
c.3872C>G (p.Pro1291Arg)
n.6408C>G
c.1870-1663C>G (n.1870-1663C>G)
c.4040C>G (p.Pro1347Arg)
c.4052C>G (p.Pro1351Arg)
c.4025C>G (p.Pro1342Arg)
c.3971C>G (p.Pro1324Arg)
c.3371C>G (p.Pro1124Arg)
c.4319C>G (p.Pro1440Arg)
c.4316C>G (p.Pro1439Arg)
c.4235C>G (p.Pro1412Arg)
c.4166C>G (p.Pro1389Arg)
c.4034C>G (p.Pro1345Arg)
c.3902C>G (p.Pro1301Arg)
20g.32436767C>TCA408564343ASXL1c.4055C>T (p.Pro1352Leu)
c.3872C>T (p.Pro1291Leu)
n.6408C>T
c.1870-1663C>T (n.1870-1663C>T)
c.4040C>T (p.Pro1347Leu)
c.4052C>T (p.Pro1351Leu)
c.4025C>T (p.Pro1342Leu)
c.3971C>T (p.Pro1324Leu)
c.3371C>T (p.Pro1124Leu)
c.4319C>T (p.Pro1440Leu)
c.4316C>T (p.Pro1439Leu)
c.4235C>T (p.Pro1412Leu)
c.4166C>T (p.Pro1389Leu)
c.4034C>T (p.Pro1345Leu)
c.3902C>T (p.Pro1301Leu)
20g.32436768A>CCA510467636ASXL1c.4056A>C (p.Pro1352=)
c.3873A>C (p.Pro1291=)
n.6409A>C
c.1870-1662A>C (n.1870-1662A>C)
c.4041A>C (p.Pro1347=)
c.4053A>C (p.Pro1351=)
c.4026A>C (p.Pro1342=)
c.3972A>C (p.Pro1324=)
c.3372A>C (p.Pro1124=)
c.4320A>C (p.Pro1440=)
c.4317A>C (p.Pro1439=)
c.4236A>C (p.Pro1412=)
c.4167A>C (p.Pro1389=)
c.4035A>C (p.Pro1345=)
c.3903A>C (p.Pro1301=)
20g.32436768A>GCA510467637ASXL1c.4056A>G (p.Pro1352=)
c.3873A>G (p.Pro1291=)
n.6409A>G
c.1870-1662A>G (n.1870-1662A>G)
c.4041A>G (p.Pro1347=)
c.4053A>G (p.Pro1351=)
c.4026A>G (p.Pro1342=)
c.3972A>G (p.Pro1324=)
c.3372A>G (p.Pro1124=)
c.4320A>G (p.Pro1440=)
c.4317A>G (p.Pro1439=)
c.4236A>G (p.Pro1412=)
c.4167A>G (p.Pro1389=)
c.4035A>G (p.Pro1345=)
c.3903A>G (p.Pro1301=)
20g.32436768A>TCA510467638ASXL1c.4056A>T (p.Pro1352=)
c.3873A>T (p.Pro1291=)
n.6409A>T
c.1870-1662A>T (n.1870-1662A>T)
c.4041A>T (p.Pro1347=)
c.4053A>T (p.Pro1351=)
c.4026A>T (p.Pro1342=)
c.3972A>T (p.Pro1324=)
c.3372A>T (p.Pro1124=)
c.4320A>T (p.Pro1440=)
c.4317A>T (p.Pro1439=)
c.4236A>T (p.Pro1412=)
c.4167A>T (p.Pro1389=)
c.4035A>T (p.Pro1345=)
c.3903A>T (p.Pro1301=)
20g.32436769A>CCA510467609ASXL1c.4057A>C (p.Arg1353=)
c.3874A>C (p.Arg1292=)
n.6410A>C
c.1870-1661A>C (n.1870-1661A>C)
c.4042A>C (p.Arg1348=)
c.4054A>C (p.Arg1352=)
c.4027A>C (p.Arg1343=)
c.3973A>C (p.Arg1325=)
c.3373A>C (p.Arg1125=)
c.4321A>C (p.Arg1441=)
c.4318A>C (p.Arg1440=)
c.4237A>C (p.Arg1413=)
c.4168A>C (p.Arg1390=)
c.4036A>C (p.Arg1346=)
c.3904A>C (p.Arg1302=)
 gnomAD v4
20g.32436769A>GCA408564345ASXL1c.4057A>G (p.Arg1353Gly)
c.3874A>G (p.Arg1292Gly)
n.6410A>G
c.1870-1661A>G (n.1870-1661A>G)
c.4042A>G (p.Arg1348Gly)
c.4054A>G (p.Arg1352Gly)
c.4027A>G (p.Arg1343Gly)
c.3973A>G (p.Arg1325Gly)
c.3373A>G (p.Arg1125Gly)
c.4321A>G (p.Arg1441Gly)
c.4318A>G (p.Arg1440Gly)
c.4237A>G (p.Arg1413Gly)
c.4168A>G (p.Arg1390Gly)
c.4036A>G (p.Arg1346Gly)
c.3904A>G (p.Arg1302Gly)
 gnomAD v4
20g.32436769A>TCA408564344ASXL1c.4057A>T (p.Arg1353Trp)
c.3874A>T (p.Arg1292Trp)
n.6410A>T
c.1870-1661A>T (n.1870-1661A>T)
c.4042A>T (p.Arg1348Trp)
c.4054A>T (p.Arg1352Trp)
c.4027A>T (p.Arg1343Trp)
c.3973A>T (p.Arg1325Trp)
c.3373A>T (p.Arg1125Trp)
c.4321A>T (p.Arg1441Trp)
c.4318A>T (p.Arg1440Trp)
c.4237A>T (p.Arg1413Trp)
c.4168A>T (p.Arg1390Trp)
c.4036A>T (p.Arg1346Trp)
c.3904A>T (p.Arg1302Trp)
20g.32436770G>ACA408564346ASXL1c.4058G>A (p.Arg1353Lys)
c.3875G>A (p.Arg1292Lys)
n.6411G>A
c.1870-1660G>A (n.1870-1660G>A)
c.4043G>A (p.Arg1348Lys)
c.4055G>A (p.Arg1352Lys)
c.4028G>A (p.Arg1343Lys)
c.3974G>A (p.Arg1325Lys)
c.3374G>A (p.Arg1125Lys)
c.4322G>A (p.Arg1441Lys)
c.4319G>A (p.Arg1440Lys)
c.4238G>A (p.Arg1413Lys)
c.4169G>A (p.Arg1390Lys)
c.4037G>A (p.Arg1346Lys)
c.3905G>A (p.Arg1302Lys)
20g.32436770G>CCA408564347ASXL1c.4058G>C (p.Arg1353Thr)
c.3875G>C (p.Arg1292Thr)
n.6411G>C
c.1870-1660G>C (n.1870-1660G>C)
c.4043G>C (p.Arg1348Thr)
c.4055G>C (p.Arg1352Thr)
c.4028G>C (p.Arg1343Thr)
c.3974G>C (p.Arg1325Thr)
c.3374G>C (p.Arg1125Thr)
c.4322G>C (p.Arg1441Thr)
c.4319G>C (p.Arg1440Thr)
c.4238G>C (p.Arg1413Thr)
c.4169G>C (p.Arg1390Thr)
c.4037G>C (p.Arg1346Thr)
c.3905G>C (p.Arg1302Thr)
20g.32436770G>TCA408564348ASXL1c.4058G>T (p.Arg1353Met)
c.3875G>T (p.Arg1292Met)
n.6411G>T
c.1870-1660G>T (n.1870-1660G>T)
c.4043G>T (p.Arg1348Met)
c.4055G>T (p.Arg1352Met)
c.4028G>T (p.Arg1343Met)
c.3974G>T (p.Arg1325Met)
c.3374G>T (p.Arg1125Met)
c.4322G>T (p.Arg1441Met)
c.4319G>T (p.Arg1440Met)
c.4238G>T (p.Arg1413Met)
c.4169G>T (p.Arg1390Met)
c.4037G>T (p.Arg1346Met)
c.3905G>T (p.Arg1302Met)
20g.32436771G>ACA510467615ASXL1c.4059G>A (p.Arg1353=)
c.3876G>A (p.Arg1292=)
n.6412G>A
c.1870-1659G>A (n.1870-1659G>A)
c.4044G>A (p.Arg1348=)
c.4056G>A (p.Arg1352=)
c.4029G>A (p.Arg1343=)
c.3975G>A (p.Arg1325=)
c.3375G>A (p.Arg1125=)
c.4323G>A (p.Arg1441=)
c.4320G>A (p.Arg1440=)
c.4239G>A (p.Arg1413=)
c.4170G>A (p.Arg1390=)
c.4038G>A (p.Arg1346=)
c.3906G>A (p.Arg1302=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436771G>CCA408564349ASXL1c.4059G>C (p.Arg1353Ser)
c.3876G>C (p.Arg1292Ser)
n.6412G>C
c.1870-1659G>C (n.1870-1659G>C)
c.4044G>C (p.Arg1348Ser)
c.4056G>C (p.Arg1352Ser)
c.4029G>C (p.Arg1343Ser)
c.3975G>C (p.Arg1325Ser)
c.3375G>C (p.Arg1125Ser)
c.4323G>C (p.Arg1441Ser)
c.4320G>C (p.Arg1440Ser)
c.4239G>C (p.Arg1413Ser)
c.4170G>C (p.Arg1390Ser)
c.4038G>C (p.Arg1346Ser)
c.3906G>C (p.Arg1302Ser)
20g.32436771G=CA2360293860ASXL1c.4059G= (p.Arg1353=)
c.3876G= (p.Arg1292=)
n.6412G=
c.1870-1659G= (n.1870-1659G=)
c.4044G= (p.Arg1348=)
c.4056G= (p.Arg1352=)
c.4029G= (p.Arg1343=)
c.3975G= (p.Arg1325=)
c.3375G= (p.Arg1125=)
c.4323G= (p.Arg1441=)
c.4320G= (p.Arg1440=)
c.4239G= (p.Arg1413=)
c.4170G= (p.Arg1390=)
c.4038G= (p.Arg1346=)
c.3906G= (p.Arg1302=)
20g.32436771G>TCA408564350ASXL1c.4059G>T (p.Arg1353Ser)
c.3876G>T (p.Arg1292Ser)
n.6412G>T
c.1870-1659G>T (n.1870-1659G>T)
c.4044G>T (p.Arg1348Ser)
c.4056G>T (p.Arg1352Ser)
c.4029G>T (p.Arg1343Ser)
c.3975G>T (p.Arg1325Ser)
c.3375G>T (p.Arg1125Ser)
c.4323G>T (p.Arg1441Ser)
c.4320G>T (p.Arg1440Ser)
c.4239G>T (p.Arg1413Ser)
c.4170G>T (p.Arg1390Ser)
c.4038G>T (p.Arg1346Ser)
c.3906G>T (p.Arg1302Ser)
20g.32436772G>ACA408564351ASXL1c.4060G>A (p.Glu1354Lys)
c.3877G>A (p.Glu1293Lys)
n.6413G>A
c.1870-1658G>A (n.1870-1658G>A)
c.4045G>A (p.Glu1349Lys)
c.4057G>A (p.Glu1353Lys)
c.4030G>A (p.Glu1344Lys)
c.3976G>A (p.Glu1326Lys)
c.3376G>A (p.Glu1126Lys)
c.4324G>A (p.Glu1442Lys)
c.4321G>A (p.Glu1441Lys)
c.4240G>A (p.Glu1414Lys)
c.4171G>A (p.Glu1391Lys)
c.4039G>A (p.Glu1347Lys)
c.3907G>A (p.Glu1303Lys)
 dbSNP
20g.32436772G>CCA408564352ASXL1c.4060G>C (p.Glu1354Gln)
c.3877G>C (p.Glu1293Gln)
n.6413G>C
c.1870-1658G>C (n.1870-1658G>C)
c.4045G>C (p.Glu1349Gln)
c.4057G>C (p.Glu1353Gln)
c.4030G>C (p.Glu1344Gln)
c.3976G>C (p.Glu1326Gln)
c.3376G>C (p.Glu1126Gln)
c.4324G>C (p.Glu1442Gln)
c.4321G>C (p.Glu1441Gln)
c.4240G>C (p.Glu1414Gln)
c.4171G>C (p.Glu1391Gln)
c.4039G>C (p.Glu1347Gln)
c.3907G>C (p.Glu1303Gln)
 dbSNP
20g.32436772G=CA2360293861ASXL1c.4060G= (p.Glu1354=)
c.3877G= (p.Glu1293=)
n.6413G=
c.1870-1658G= (n.1870-1658G=)
c.4045G= (p.Glu1349=)
c.4057G= (p.Glu1353=)
c.4030G= (p.Glu1344=)
c.3976G= (p.Glu1326=)
c.3376G= (p.Glu1126=)
c.4324G= (p.Glu1442=)
c.4321G= (p.Glu1441=)
c.4240G= (p.Glu1414=)
c.4171G= (p.Glu1391=)
c.4039G= (p.Glu1347=)
c.3907G= (p.Glu1303=)
20g.32436772G>TCA408564353ASXL1c.4060G>T (p.Glu1354Ter)
c.3877G>T (p.Glu1293Ter)
n.6413G>T
c.1870-1658G>T (n.1870-1658G>T)
c.4045G>T (p.Glu1349Ter)
c.4057G>T (p.Glu1353Ter)
c.4030G>T (p.Glu1344Ter)
c.3976G>T (p.Glu1326Ter)
c.3376G>T (p.Glu1126Ter)
c.4324G>T (p.Glu1442Ter)
c.4321G>T (p.Glu1441Ter)
c.4240G>T (p.Glu1414Ter)
c.4171G>T (p.Glu1391Ter)
c.4039G>T (p.Glu1347Ter)
c.3907G>T (p.Glu1303Ter)
 ClinVar dbSNP
20g.32436773A>CCA408564354ASXL1c.4061A>C (p.Glu1354Ala)
c.3878A>C (p.Glu1293Ala)
n.6414A>C
c.1870-1657A>C (n.1870-1657A>C)
c.4046A>C (p.Glu1349Ala)
c.4058A>C (p.Glu1353Ala)
c.4031A>C (p.Glu1344Ala)
c.3977A>C (p.Glu1326Ala)
c.3377A>C (p.Glu1126Ala)
c.4325A>C (p.Glu1442Ala)
c.4322A>C (p.Glu1441Ala)
c.4241A>C (p.Glu1414Ala)
c.4172A>C (p.Glu1391Ala)
c.4040A>C (p.Glu1347Ala)
c.3908A>C (p.Glu1303Ala)
20g.32436773A>GCA408564355ASXL1c.4061A>G (p.Glu1354Gly)
c.3878A>G (p.Glu1293Gly)
n.6414A>G
c.1870-1657A>G (n.1870-1657A>G)
c.4046A>G (p.Glu1349Gly)
c.4058A>G (p.Glu1353Gly)
c.4031A>G (p.Glu1344Gly)
c.3977A>G (p.Glu1326Gly)
c.3377A>G (p.Glu1126Gly)
c.4325A>G (p.Glu1442Gly)
c.4322A>G (p.Glu1441Gly)
c.4241A>G (p.Glu1414Gly)
c.4172A>G (p.Glu1391Gly)
c.4040A>G (p.Glu1347Gly)
c.3908A>G (p.Glu1303Gly)
20g.32436773A>TCA408564356ASXL1c.4061A>T (p.Glu1354Val)
c.3878A>T (p.Glu1293Val)
n.6414A>T
c.1870-1657A>T (n.1870-1657A>T)
c.4046A>T (p.Glu1349Val)
c.4058A>T (p.Glu1353Val)
c.4031A>T (p.Glu1344Val)
c.3977A>T (p.Glu1326Val)
c.3377A>T (p.Glu1126Val)
c.4325A>T (p.Glu1442Val)
c.4322A>T (p.Glu1441Val)
c.4241A>T (p.Glu1414Val)
c.4172A>T (p.Glu1391Val)
c.4040A>T (p.Glu1347Val)
c.3908A>T (p.Glu1303Val)
20g.32436774A>CCA408564357ASXL1c.4062A>C (p.Glu1354Asp)
c.3879A>C (p.Glu1293Asp)
n.6415A>C
c.1870-1656A>C (n.1870-1656A>C)
c.4047A>C (p.Glu1349Asp)
c.4059A>C (p.Glu1353Asp)
c.4032A>C (p.Glu1344Asp)
c.3978A>C (p.Glu1326Asp)
c.3378A>C (p.Glu1126Asp)
c.4326A>C (p.Glu1442Asp)
c.4323A>C (p.Glu1441Asp)
c.4242A>C (p.Glu1414Asp)
c.4173A>C (p.Glu1391Asp)
c.4041A>C (p.Glu1347Asp)
c.3909A>C (p.Glu1303Asp)
20g.32436774A>GCA510467626ASXL1c.4062A>G (p.Glu1354=)
c.3879A>G (p.Glu1293=)
n.6415A>G
c.1870-1656A>G (n.1870-1656A>G)
c.4047A>G (p.Glu1349=)
c.4059A>G (p.Glu1353=)
c.4032A>G (p.Glu1344=)
c.3978A>G (p.Glu1326=)
c.3378A>G (p.Glu1126=)
c.4326A>G (p.Glu1442=)
c.4323A>G (p.Glu1441=)
c.4242A>G (p.Glu1414=)
c.4173A>G (p.Glu1391=)
c.4041A>G (p.Glu1347=)
c.3909A>G (p.Glu1303=)
20g.32436774A>TCA408564358ASXL1c.4062A>T (p.Glu1354Asp)
c.3879A>T (p.Glu1293Asp)
n.6415A>T
c.1870-1656A>T (n.1870-1656A>T)
c.4047A>T (p.Glu1349Asp)
c.4059A>T (p.Glu1353Asp)
c.4032A>T (p.Glu1344Asp)
c.3978A>T (p.Glu1326Asp)
c.3378A>T (p.Glu1126Asp)
c.4326A>T (p.Glu1442Asp)
c.4323A>T (p.Glu1441Asp)
c.4242A>T (p.Glu1414Asp)
c.4173A>T (p.Glu1391Asp)
c.4041A>T (p.Glu1347Asp)
c.3909A>T (p.Glu1303Asp)
20g.32436775G>ACA408564359ASXL1c.4063G>A (p.Asp1355Asn)
c.3880G>A (p.Asp1294Asn)
n.6416G>A
c.1870-1655G>A (n.1870-1655G>A)
c.4048G>A (p.Asp1350Asn)
c.4060G>A (p.Asp1354Asn)
c.4033G>A (p.Asp1345Asn)
c.3979G>A (p.Asp1327Asn)
c.3379G>A (p.Asp1127Asn)
c.4327G>A (p.Asp1443Asn)
c.4324G>A (p.Asp1442Asn)
c.4243G>A (p.Asp1415Asn)
c.4174G>A (p.Asp1392Asn)
c.4042G>A (p.Asp1348Asn)
c.3910G>A (p.Asp1304Asn)
20g.32436775G>CCA313926373ASXL1c.4063G>C (p.Asp1355His)
c.3880G>C (p.Asp1294His)
n.6416G>C
c.1870-1655G>C (n.1870-1655G>C)
c.4048G>C (p.Asp1350His)
c.4060G>C (p.Asp1354His)
c.4033G>C (p.Asp1345His)
c.3979G>C (p.Asp1327His)
c.3379G>C (p.Asp1127His)
c.4327G>C (p.Asp1443His)
c.4324G>C (p.Asp1442His)
c.4243G>C (p.Asp1415His)
c.4174G>C (p.Asp1392His)
c.4042G>C (p.Asp1348His)
c.3910G>C (p.Asp1304His)
 dbSNP gnomAD v2 gnomAD v4
20g.32436775G=CA2360293862ASXL1c.4063G= (p.Asp1355=)
c.3880G= (p.Asp1294=)
n.6416G=
c.1870-1655G= (n.1870-1655G=)
c.4048G= (p.Asp1350=)
c.4060G= (p.Asp1354=)
c.4033G= (p.Asp1345=)
c.3979G= (p.Asp1327=)
c.3379G= (p.Asp1127=)
c.4327G= (p.Asp1443=)
c.4324G= (p.Asp1442=)
c.4243G= (p.Asp1415=)
c.4174G= (p.Asp1392=)
c.4042G= (p.Asp1348=)
c.3910G= (p.Asp1304=)
20g.32436775G>TCA408564360ASXL1c.4063G>T (p.Asp1355Tyr)
c.3880G>T (p.Asp1294Tyr)
n.6416G>T
c.1870-1655G>T (n.1870-1655G>T)
c.4048G>T (p.Asp1350Tyr)
c.4060G>T (p.Asp1354Tyr)
c.4033G>T (p.Asp1345Tyr)
c.3979G>T (p.Asp1327Tyr)
c.3379G>T (p.Asp1127Tyr)
c.4327G>T (p.Asp1443Tyr)
c.4324G>T (p.Asp1442Tyr)
c.4243G>T (p.Asp1415Tyr)
c.4174G>T (p.Asp1392Tyr)
c.4042G>T (p.Asp1348Tyr)
c.3910G>T (p.Asp1304Tyr)
 dbSNP gnomAD v2 gnomAD v4
20g.32436776A=CA2360293863ASXL1c.4064A= (p.Asp1355=)
c.3881A= (p.Asp1294=)
n.6417A=
c.1870-1654A= (n.1870-1654A=)
c.4049A= (p.Asp1350=)
c.4061A= (p.Asp1354=)
c.4034A= (p.Asp1345=)
c.3980A= (p.Asp1327=)
c.3380A= (p.Asp1127=)
c.4328A= (p.Asp1443=)
c.4325A= (p.Asp1442=)
c.4244A= (p.Asp1415=)
c.4175A= (p.Asp1392=)
c.4043A= (p.Asp1348=)
c.3911A= (p.Asp1304=)
20g.32436776A>CCA408564361ASXL1c.4064A>C (p.Asp1355Ala)
c.3881A>C (p.Asp1294Ala)
n.6417A>C
c.1870-1654A>C (n.1870-1654A>C)
c.4049A>C (p.Asp1350Ala)
c.4061A>C (p.Asp1354Ala)
c.4034A>C (p.Asp1345Ala)
c.3980A>C (p.Asp1327Ala)
c.3380A>C (p.Asp1127Ala)
c.4328A>C (p.Asp1443Ala)
c.4325A>C (p.Asp1442Ala)
c.4244A>C (p.Asp1415Ala)
c.4175A>C (p.Asp1392Ala)
c.4043A>C (p.Asp1348Ala)
c.3911A>C (p.Asp1304Ala)
20g.32436776A>GCA9808956ASXL1c.4064A>G (p.Asp1355Gly)
c.3881A>G (p.Asp1294Gly)
n.6417A>G
c.1870-1654A>G (n.1870-1654A>G)
c.4049A>G (p.Asp1350Gly)
c.4061A>G (p.Asp1354Gly)
c.4034A>G (p.Asp1345Gly)
c.3980A>G (p.Asp1327Gly)
c.3380A>G (p.Asp1127Gly)
c.4328A>G (p.Asp1443Gly)
c.4325A>G (p.Asp1442Gly)
c.4244A>G (p.Asp1415Gly)
c.4175A>G (p.Asp1392Gly)
c.4043A>G (p.Asp1348Gly)
c.3911A>G (p.Asp1304Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436776A>TCA408564362ASXL1c.4064A>T (p.Asp1355Val)
c.3881A>T (p.Asp1294Val)
n.6417A>T
c.1870-1654A>T (n.1870-1654A>T)
c.4049A>T (p.Asp1350Val)
c.4061A>T (p.Asp1354Val)
c.4034A>T (p.Asp1345Val)
c.3980A>T (p.Asp1327Val)
c.3380A>T (p.Asp1127Val)
c.4328A>T (p.Asp1443Val)
c.4325A>T (p.Asp1442Val)
c.4244A>T (p.Asp1415Val)
c.4175A>T (p.Asp1392Val)
c.4043A>T (p.Asp1348Val)
c.3911A>T (p.Asp1304Val)
20g.32436777C>ACA408564363ASXL1c.4065C>A (p.Asp1355Glu)
c.3882C>A (p.Asp1294Glu)
n.6418C>A
c.1870-1653C>A (n.1870-1653C>A)
c.4050C>A (p.Asp1350Glu)
c.4062C>A (p.Asp1354Glu)
c.4035C>A (p.Asp1345Glu)
c.3981C>A (p.Asp1327Glu)
c.3381C>A (p.Asp1127Glu)
c.4329C>A (p.Asp1443Glu)
c.4326C>A (p.Asp1442Glu)
c.4245C>A (p.Asp1415Glu)
c.4176C>A (p.Asp1392Glu)
c.4044C>A (p.Asp1348Glu)
c.3912C>A (p.Asp1304Glu)
 gnomAD v4
20g.32436777C>GCA408564364ASXL1c.4065C>G (p.Asp1355Glu)
c.3882C>G (p.Asp1294Glu)
n.6418C>G
c.1870-1653C>G (n.1870-1653C>G)
c.4050C>G (p.Asp1350Glu)
c.4062C>G (p.Asp1354Glu)
c.4035C>G (p.Asp1345Glu)
c.3981C>G (p.Asp1327Glu)
c.3381C>G (p.Asp1127Glu)
c.4329C>G (p.Asp1443Glu)
c.4326C>G (p.Asp1442Glu)
c.4245C>G (p.Asp1415Glu)
c.4176C>G (p.Asp1392Glu)
c.4044C>G (p.Asp1348Glu)
c.3912C>G (p.Asp1304Glu)
20g.32436777C>TCA510467629ASXL1c.4065C>T (p.Asp1355=)
c.3882C>T (p.Asp1294=)
n.6418C>T
c.1870-1653C>T (n.1870-1653C>T)
c.4050C>T (p.Asp1350=)
c.4062C>T (p.Asp1354=)
c.4035C>T (p.Asp1345=)
c.3981C>T (p.Asp1327=)
c.3381C>T (p.Asp1127=)
c.4329C>T (p.Asp1443=)
c.4326C>T (p.Asp1442=)
c.4245C>T (p.Asp1415=)
c.4176C>T (p.Asp1392=)
c.4044C>T (p.Asp1348=)
c.3912C>T (p.Asp1304=)
20g.32436778T>ACA408564365ASXL1c.4066T>A (p.Trp1356Arg)
c.3883T>A (p.Trp1295Arg)
n.6419T>A
c.1870-1652T>A (n.1870-1652T>A)
c.4051T>A (p.Trp1351Arg)
c.4063T>A (p.Trp1355Arg)
c.4036T>A (p.Trp1346Arg)
c.3982T>A (p.Trp1328Arg)
c.3382T>A (p.Trp1128Arg)
c.4330T>A (p.Trp1444Arg)
c.4327T>A (p.Trp1443Arg)
c.4246T>A (p.Trp1416Arg)
c.4177T>A (p.Trp1393Arg)
c.4045T>A (p.Trp1349Arg)
c.3913T>A (p.Trp1305Arg)
20g.32436778T>CCA408564366ASXL1c.4066T>C (p.Trp1356Arg)
c.3883T>C (p.Trp1295Arg)
n.6419T>C
c.1870-1652T>C (n.1870-1652T>C)
c.4051T>C (p.Trp1351Arg)
c.4063T>C (p.Trp1355Arg)
c.4036T>C (p.Trp1346Arg)
c.3982T>C (p.Trp1328Arg)
c.3382T>C (p.Trp1128Arg)
c.4330T>C (p.Trp1444Arg)
c.4327T>C (p.Trp1443Arg)
c.4246T>C (p.Trp1416Arg)
c.4177T>C (p.Trp1393Arg)
c.4045T>C (p.Trp1349Arg)
c.3913T>C (p.Trp1305Arg)
20g.32436778T>GCA408564367ASXL1c.4066T>G (p.Trp1356Gly)
c.3883T>G (p.Trp1295Gly)
n.6419T>G
c.1870-1652T>G (n.1870-1652T>G)
c.4051T>G (p.Trp1351Gly)
c.4063T>G (p.Trp1355Gly)
c.4036T>G (p.Trp1346Gly)
c.3982T>G (p.Trp1328Gly)
c.3382T>G (p.Trp1128Gly)
c.4330T>G (p.Trp1444Gly)
c.4327T>G (p.Trp1443Gly)
c.4246T>G (p.Trp1416Gly)
c.4177T>G (p.Trp1393Gly)
c.4045T>G (p.Trp1349Gly)
c.3913T>G (p.Trp1305Gly)
 dbSNP
20g.32436779G>ACA408564368ASXL1c.4067G>A (p.Trp1356Ter)
c.3884G>A (p.Trp1295Ter)
n.6420G>A
c.1870-1651G>A (n.1870-1651G>A)
c.4052G>A (p.Trp1351Ter)
c.4064G>A (p.Trp1355Ter)
c.4037G>A (p.Trp1346Ter)
c.3983G>A (p.Trp1328Ter)
c.3383G>A (p.Trp1128Ter)
c.4331G>A (p.Trp1444Ter)
c.4328G>A (p.Trp1443Ter)
c.4247G>A (p.Trp1416Ter)
c.4178G>A (p.Trp1393Ter)
c.4046G>A (p.Trp1349Ter)
c.3914G>A (p.Trp1305Ter)
20g.32436779G>CCA408564369ASXL1c.4067G>C (p.Trp1356Ser)
c.3884G>C (p.Trp1295Ser)
n.6420G>C
c.1870-1651G>C (n.1870-1651G>C)
c.4052G>C (p.Trp1351Ser)
c.4064G>C (p.Trp1355Ser)
c.4037G>C (p.Trp1346Ser)
c.3983G>C (p.Trp1328Ser)
c.3383G>C (p.Trp1128Ser)
c.4331G>C (p.Trp1444Ser)
c.4328G>C (p.Trp1443Ser)
c.4247G>C (p.Trp1416Ser)
c.4178G>C (p.Trp1393Ser)
c.4046G>C (p.Trp1349Ser)
c.3914G>C (p.Trp1305Ser)
20g.32436779G>TCA408564370ASXL1c.4067G>T (p.Trp1356Leu)
c.3884G>T (p.Trp1295Leu)
n.6420G>T
c.1870-1651G>T (n.1870-1651G>T)
c.4052G>T (p.Trp1351Leu)
c.4064G>T (p.Trp1355Leu)
c.4037G>T (p.Trp1346Leu)
c.3983G>T (p.Trp1328Leu)
c.3383G>T (p.Trp1128Leu)
c.4331G>T (p.Trp1444Leu)
c.4328G>T (p.Trp1443Leu)
c.4247G>T (p.Trp1416Leu)
c.4178G>T (p.Trp1393Leu)
c.4046G>T (p.Trp1349Leu)
c.3914G>T (p.Trp1305Leu)
20g.32436780G>ACA408564371ASXL1c.4068G>A (p.Trp1356Ter)
c.3885G>A (p.Trp1295Ter)
n.6421G>A
c.1870-1650G>A (n.1870-1650G>A)
c.4053G>A (p.Trp1351Ter)
c.4065G>A (p.Trp1355Ter)
c.4038G>A (p.Trp1346Ter)
c.3984G>A (p.Trp1328Ter)
c.3384G>A (p.Trp1128Ter)
c.4332G>A (p.Trp1444Ter)
c.4329G>A (p.Trp1443Ter)
c.4248G>A (p.Trp1416Ter)
c.4179G>A (p.Trp1393Ter)
c.4047G>A (p.Trp1349Ter)
c.3915G>A (p.Trp1305Ter)
 gnomAD v4
20g.32436780G>CCA408564372ASXL1c.4068G>C (p.Trp1356Cys)
c.3885G>C (p.Trp1295Cys)
n.6421G>C
c.1870-1650G>C (n.1870-1650G>C)
c.4053G>C (p.Trp1351Cys)
c.4065G>C (p.Trp1355Cys)
c.4038G>C (p.Trp1346Cys)
c.3984G>C (p.Trp1328Cys)
c.3384G>C (p.Trp1128Cys)
c.4332G>C (p.Trp1444Cys)
c.4329G>C (p.Trp1443Cys)
c.4248G>C (p.Trp1416Cys)
c.4179G>C (p.Trp1393Cys)
c.4047G>C (p.Trp1349Cys)
c.3915G>C (p.Trp1305Cys)
20g.32436780G>TCA408564373ASXL1c.4068G>T (p.Trp1356Cys)
c.3885G>T (p.Trp1295Cys)
n.6421G>T
c.1870-1650G>T (n.1870-1650G>T)
c.4053G>T (p.Trp1351Cys)
c.4065G>T (p.Trp1355Cys)
c.4038G>T (p.Trp1346Cys)
c.3984G>T (p.Trp1328Cys)
c.3384G>T (p.Trp1128Cys)
c.4332G>T (p.Trp1444Cys)
c.4329G>T (p.Trp1443Cys)
c.4248G>T (p.Trp1416Cys)
c.4179G>T (p.Trp1393Cys)
c.4047G>T (p.Trp1349Cys)
c.3915G>T (p.Trp1305Cys)
20g.32436781G>ACA408564376ASXL1c.4069G>A (p.Ala1357Thr)
c.3886G>A (p.Ala1296Thr)
n.6422G>A
c.1870-1649G>A (n.1870-1649G>A)
c.4054G>A (p.Ala1352Thr)
c.4066G>A (p.Ala1356Thr)
c.4039G>A (p.Ala1347Thr)
c.3985G>A (p.Ala1329Thr)
c.3385G>A (p.Ala1129Thr)
c.4333G>A (p.Ala1445Thr)
c.4330G>A (p.Ala1444Thr)
c.4249G>A (p.Ala1417Thr)
c.4180G>A (p.Ala1394Thr)
c.4048G>A (p.Ala1350Thr)
c.3916G>A (p.Ala1306Thr)
 dbSNP COSMIC COSMIC
20g.32436781G>CCA408564375ASXL1c.4069G>C (p.Ala1357Pro)
c.3886G>C (p.Ala1296Pro)
n.6422G>C
c.1870-1649G>C (n.1870-1649G>C)
c.4054G>C (p.Ala1352Pro)
c.4066G>C (p.Ala1356Pro)
c.4039G>C (p.Ala1347Pro)
c.3985G>C (p.Ala1329Pro)
c.3385G>C (p.Ala1129Pro)
c.4333G>C (p.Ala1445Pro)
c.4330G>C (p.Ala1444Pro)
c.4249G>C (p.Ala1417Pro)
c.4180G>C (p.Ala1394Pro)
c.4048G>C (p.Ala1350Pro)
c.3916G>C (p.Ala1306Pro)
 dbSNP gnomAD v2 gnomAD v4
20g.32436781G=CA2360293864ASXL1c.4069G= (p.Ala1357=)
c.3886G= (p.Ala1296=)
n.6422G=
c.1870-1649G= (n.1870-1649G=)
c.4054G= (p.Ala1352=)
c.4066G= (p.Ala1356=)
c.4039G= (p.Ala1347=)
c.3985G= (p.Ala1329=)
c.3385G= (p.Ala1129=)
c.4333G= (p.Ala1445=)
c.4330G= (p.Ala1444=)
c.4249G= (p.Ala1417=)
c.4180G= (p.Ala1394=)
c.4048G= (p.Ala1350=)
c.3916G= (p.Ala1306=)
20g.32436781G>TCA408564374ASXL1c.4069G>T (p.Ala1357Ser)
c.3886G>T (p.Ala1296Ser)
n.6422G>T
c.1870-1649G>T (n.1870-1649G>T)
c.4054G>T (p.Ala1352Ser)
c.4066G>T (p.Ala1356Ser)
c.4039G>T (p.Ala1347Ser)
c.3985G>T (p.Ala1329Ser)
c.3385G>T (p.Ala1129Ser)
c.4333G>T (p.Ala1445Ser)
c.4330G>T (p.Ala1444Ser)
c.4249G>T (p.Ala1417Ser)
c.4180G>T (p.Ala1394Ser)
c.4048G>T (p.Ala1350Ser)
c.3916G>T (p.Ala1306Ser)
20g.32436782C>ACA408564377ASXL1c.4070C>A (p.Ala1357Asp)
c.3887C>A (p.Ala1296Asp)
n.6423C>A
c.1870-1648C>A (n.1870-1648C>A)
c.4055C>A (p.Ala1352Asp)
c.4067C>A (p.Ala1356Asp)
c.4040C>A (p.Ala1347Asp)
c.3986C>A (p.Ala1329Asp)
c.3386C>A (p.Ala1129Asp)
c.4334C>A (p.Ala1445Asp)
c.4331C>A (p.Ala1444Asp)
c.4250C>A (p.Ala1417Asp)
c.4181C>A (p.Ala1394Asp)
c.4049C>A (p.Ala1350Asp)
c.3917C>A (p.Ala1306Asp)
20g.32436782C=CA2360293865ASXL1c.4070C= (p.Ala1357=)
c.3887C= (p.Ala1296=)
n.6423C=
c.1870-1648C= (n.1870-1648C=)
c.4055C= (p.Ala1352=)
c.4067C= (p.Ala1356=)
c.4040C= (p.Ala1347=)
c.3986C= (p.Ala1329=)
c.3386C= (p.Ala1129=)
c.4334C= (p.Ala1445=)
c.4331C= (p.Ala1444=)
c.4250C= (p.Ala1417=)
c.4181C= (p.Ala1394=)
c.4049C= (p.Ala1350=)
c.3917C= (p.Ala1306=)
20g.32436782C>GCA408564378ASXL1c.4070C>G (p.Ala1357Gly)
c.3887C>G (p.Ala1296Gly)
n.6423C>G
c.1870-1648C>G (n.1870-1648C>G)
c.4055C>G (p.Ala1352Gly)
c.4067C>G (p.Ala1356Gly)
c.4040C>G (p.Ala1347Gly)
c.3986C>G (p.Ala1329Gly)
c.3386C>G (p.Ala1129Gly)
c.4334C>G (p.Ala1445Gly)
c.4331C>G (p.Ala1444Gly)
c.4250C>G (p.Ala1417Gly)
c.4181C>G (p.Ala1394Gly)
c.4049C>G (p.Ala1350Gly)
c.3917C>G (p.Ala1306Gly)
20g.32436782C>TCA408564379ASXL1c.4070C>T (p.Ala1357Val)
c.3887C>T (p.Ala1296Val)
n.6423C>T
c.1870-1648C>T (n.1870-1648C>T)
c.4055C>T (p.Ala1352Val)
c.4067C>T (p.Ala1356Val)
c.4040C>T (p.Ala1347Val)
c.3986C>T (p.Ala1329Val)
c.3386C>T (p.Ala1129Val)
c.4334C>T (p.Ala1445Val)
c.4331C>T (p.Ala1444Val)
c.4250C>T (p.Ala1417Val)
c.4181C>T (p.Ala1394Val)
c.4049C>T (p.Ala1350Val)
c.3917C>T (p.Ala1306Val)
 dbSNP gnomAD v4
20g.32436783T>ACA510467642ASXL1c.4071T>A (p.Ala1357=)
c.3888T>A (p.Ala1296=)
n.6424T>A
c.1870-1647T>A (n.1870-1647T>A)
c.4056T>A (p.Ala1352=)
c.4068T>A (p.Ala1356=)
c.4041T>A (p.Ala1347=)
c.3987T>A (p.Ala1329=)
c.3387T>A (p.Ala1129=)
c.4335T>A (p.Ala1445=)
c.4332T>A (p.Ala1444=)
c.4251T>A (p.Ala1417=)
c.4182T>A (p.Ala1394=)
c.4050T>A (p.Ala1350=)
c.3918T>A (p.Ala1306=)
20g.32436783T>CCA510467641ASXL1c.4071T>C (p.Ala1357=)
c.3888T>C (p.Ala1296=)
n.6424T>C
c.1870-1647T>C (n.1870-1647T>C)
c.4056T>C (p.Ala1352=)
c.4068T>C (p.Ala1356=)
c.4041T>C (p.Ala1347=)
c.3987T>C (p.Ala1329=)
c.3387T>C (p.Ala1129=)
c.4335T>C (p.Ala1445=)
c.4332T>C (p.Ala1444=)
c.4251T>C (p.Ala1417=)
c.4182T>C (p.Ala1394=)
c.4050T>C (p.Ala1350=)
c.3918T>C (p.Ala1306=)
20g.32436783T>GCA510467639ASXL1c.4071T>G (p.Ala1357=)
c.3888T>G (p.Ala1296=)
n.6424T>G
c.1870-1647T>G (n.1870-1647T>G)
c.4056T>G (p.Ala1352=)
c.4068T>G (p.Ala1356=)
c.4041T>G (p.Ala1347=)
c.3987T>G (p.Ala1329=)
c.3387T>G (p.Ala1129=)
c.4335T>G (p.Ala1445=)
c.4332T>G (p.Ala1444=)
c.4251T>G (p.Ala1417=)
c.4182T>G (p.Ala1394=)
c.4050T>G (p.Ala1350=)
c.3918T>G (p.Ala1306=)
20g.32436784C>ACA408564380ASXL1c.4072C>A (p.Pro1358Thr)
c.3889C>A (p.Pro1297Thr)
n.6425C>A
c.1870-1646C>A (n.1870-1646C>A)
c.4057C>A (p.Pro1353Thr)
c.4069C>A (p.Pro1357Thr)
c.4042C>A (p.Pro1348Thr)
c.3988C>A (p.Pro1330Thr)
c.3388C>A (p.Pro1130Thr)
c.4336C>A (p.Pro1446Thr)
c.4333C>A (p.Pro1445Thr)
c.4252C>A (p.Pro1418Thr)
c.4183C>A (p.Pro1395Thr)
c.4051C>A (p.Pro1351Thr)
c.3919C>A (p.Pro1307Thr)
20g.32436784C=CA2360293866ASXL1c.4072C= (p.Pro1358=)
c.3889C= (p.Pro1297=)
n.6425C=
c.1870-1646C= (n.1870-1646C=)
c.4057C= (p.Pro1353=)
c.4069C= (p.Pro1357=)
c.4042C= (p.Pro1348=)
c.3988C= (p.Pro1330=)
c.3388C= (p.Pro1130=)
c.4336C= (p.Pro1446=)
c.4333C= (p.Pro1445=)
c.4252C= (p.Pro1418=)
c.4183C= (p.Pro1395=)
c.4051C= (p.Pro1351=)
c.3919C= (p.Pro1307=)
20g.32436784C>GCA9808957ASXL1c.4072C>G (p.Pro1358Ala)
c.3889C>G (p.Pro1297Ala)
n.6425C>G
c.1870-1646C>G (n.1870-1646C>G)
c.4057C>G (p.Pro1353Ala)
c.4069C>G (p.Pro1357Ala)
c.4042C>G (p.Pro1348Ala)
c.3988C>G (p.Pro1330Ala)
c.3388C>G (p.Pro1130Ala)
c.4336C>G (p.Pro1446Ala)
c.4333C>G (p.Pro1445Ala)
c.4252C>G (p.Pro1418Ala)
c.4183C>G (p.Pro1395Ala)
c.4051C>G (p.Pro1351Ala)
c.3919C>G (p.Pro1307Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436784C>TCA408564381ASXL1c.4072C>T (p.Pro1358Ser)
c.3889C>T (p.Pro1297Ser)
n.6425C>T
c.1870-1646C>T (n.1870-1646C>T)
c.4057C>T (p.Pro1353Ser)
c.4069C>T (p.Pro1357Ser)
c.4042C>T (p.Pro1348Ser)
c.3988C>T (p.Pro1330Ser)
c.3388C>T (p.Pro1130Ser)
c.4336C>T (p.Pro1446Ser)
c.4333C>T (p.Pro1445Ser)
c.4252C>T (p.Pro1418Ser)
c.4183C>T (p.Pro1395Ser)
c.4051C>T (p.Pro1351Ser)
c.3919C>T (p.Pro1307Ser)
20g.32436785C>ACA408564382ASXL1c.4073C>A (p.Pro1358Gln)
c.3890C>A (p.Pro1297Gln)
n.6426C>A
c.1870-1645C>A (n.1870-1645C>A)
c.4058C>A (p.Pro1353Gln)
c.4070C>A (p.Pro1357Gln)
c.4043C>A (p.Pro1348Gln)
c.3989C>A (p.Pro1330Gln)
c.3389C>A (p.Pro1130Gln)
c.4337C>A (p.Pro1446Gln)
c.4334C>A (p.Pro1445Gln)
c.4253C>A (p.Pro1418Gln)
c.4184C>A (p.Pro1395Gln)
c.4052C>A (p.Pro1351Gln)
c.3920C>A (p.Pro1307Gln)
 dbSNP
20g.32436785C=CA2360293867ASXL1c.4073C= (p.Pro1358=)
c.3890C= (p.Pro1297=)
n.6426C=
c.1870-1645C= (n.1870-1645C=)
c.4058C= (p.Pro1353=)
c.4070C= (p.Pro1357=)
c.4043C= (p.Pro1348=)
c.3989C= (p.Pro1330=)
c.3389C= (p.Pro1130=)
c.4337C= (p.Pro1446=)
c.4334C= (p.Pro1445=)
c.4253C= (p.Pro1418=)
c.4184C= (p.Pro1395=)
c.4052C= (p.Pro1351=)
c.3920C= (p.Pro1307=)
20g.32436785C>GCA408564383ASXL1c.4073C>G (p.Pro1358Arg)
c.3890C>G (p.Pro1297Arg)
n.6426C>G
c.1870-1645C>G (n.1870-1645C>G)
c.4058C>G (p.Pro1353Arg)
c.4070C>G (p.Pro1357Arg)
c.4043C>G (p.Pro1348Arg)
c.3989C>G (p.Pro1330Arg)
c.3389C>G (p.Pro1130Arg)
c.4337C>G (p.Pro1446Arg)
c.4334C>G (p.Pro1445Arg)
c.4253C>G (p.Pro1418Arg)
c.4184C>G (p.Pro1395Arg)
c.4052C>G (p.Pro1351Arg)
c.3920C>G (p.Pro1307Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436785C>TCA408564384ASXL1c.4073C>T (p.Pro1358Leu)
c.3890C>T (p.Pro1297Leu)
n.6426C>T
c.1870-1645C>T (n.1870-1645C>T)
c.4058C>T (p.Pro1353Leu)
c.4070C>T (p.Pro1357Leu)
c.4043C>T (p.Pro1348Leu)
c.3989C>T (p.Pro1330Leu)
c.3389C>T (p.Pro1130Leu)
c.4337C>T (p.Pro1446Leu)
c.4334C>T (p.Pro1445Leu)
c.4253C>T (p.Pro1418Leu)
c.4184C>T (p.Pro1395Leu)
c.4052C>T (p.Pro1351Leu)
c.3920C>T (p.Pro1307Leu)
 gnomAD v4
20g.32436786A>CCA510467643ASXL1c.4074A>C (p.Pro1358=)
c.3891A>C (p.Pro1297=)
n.6427A>C
c.1870-1644A>C (n.1870-1644A>C)
c.4059A>C (p.Pro1353=)
c.4071A>C (p.Pro1357=)
c.4044A>C (p.Pro1348=)
c.3990A>C (p.Pro1330=)
c.3390A>C (p.Pro1130=)
c.4338A>C (p.Pro1446=)
c.4335A>C (p.Pro1445=)
c.4254A>C (p.Pro1418=)
c.4185A>C (p.Pro1395=)
c.4053A>C (p.Pro1351=)
c.3921A>C (p.Pro1307=)
20g.32436786A>GCA510467644ASXL1c.4074A>G (p.Pro1358=)
c.3891A>G (p.Pro1297=)
n.6427A>G
c.1870-1644A>G (n.1870-1644A>G)
c.4059A>G (p.Pro1353=)
c.4071A>G (p.Pro1357=)
c.4044A>G (p.Pro1348=)
c.3990A>G (p.Pro1330=)
c.3390A>G (p.Pro1130=)
c.4338A>G (p.Pro1446=)
c.4335A>G (p.Pro1445=)
c.4254A>G (p.Pro1418=)
c.4185A>G (p.Pro1395=)
c.4053A>G (p.Pro1351=)
c.3921A>G (p.Pro1307=)
20g.32436786A>TCA510467646ASXL1c.4074A>T (p.Pro1358=)
c.3891A>T (p.Pro1297=)
n.6427A>T
c.1870-1644A>T (n.1870-1644A>T)
c.4059A>T (p.Pro1353=)
c.4071A>T (p.Pro1357=)
c.4044A>T (p.Pro1348=)
c.3990A>T (p.Pro1330=)
c.3390A>T (p.Pro1130=)
c.4338A>T (p.Pro1446=)
c.4335A>T (p.Pro1445=)
c.4254A>T (p.Pro1418=)
c.4185A>T (p.Pro1395=)
c.4053A>T (p.Pro1351=)
c.3921A>T (p.Pro1307=)
20g.32436787A>CCA408564385ASXL1c.4075A>C (p.Lys1359Gln)
c.3892A>C (p.Lys1298Gln)
n.6428A>C
c.1870-1643A>C (n.1870-1643A>C)
c.4060A>C (p.Lys1354Gln)
c.4072A>C (p.Lys1358Gln)
c.4045A>C (p.Lys1349Gln)
c.3991A>C (p.Lys1331Gln)
c.3391A>C (p.Lys1131Gln)
c.4339A>C (p.Lys1447Gln)
c.4336A>C (p.Lys1446Gln)
c.4255A>C (p.Lys1419Gln)
c.4186A>C (p.Lys1396Gln)
c.4054A>C (p.Lys1352Gln)
c.3922A>C (p.Lys1308Gln)
20g.32436787A>GCA408564386ASXL1c.4075A>G (p.Lys1359Glu)
c.3892A>G (p.Lys1298Glu)
n.6428A>G
c.1870-1643A>G (n.1870-1643A>G)
c.4060A>G (p.Lys1354Glu)
c.4072A>G (p.Lys1358Glu)
c.4045A>G (p.Lys1349Glu)
c.3991A>G (p.Lys1331Glu)
c.3391A>G (p.Lys1131Glu)
c.4339A>G (p.Lys1447Glu)
c.4336A>G (p.Lys1446Glu)
c.4255A>G (p.Lys1419Glu)
c.4186A>G (p.Lys1396Glu)
c.4054A>G (p.Lys1352Glu)
c.3922A>G (p.Lys1308Glu)
20g.32436787A>TCA408564387ASXL1c.4075A>T (p.Lys1359Ter)
c.3892A>T (p.Lys1298Ter)
n.6428A>T
c.1870-1643A>T (n.1870-1643A>T)
c.4060A>T (p.Lys1354Ter)
c.4072A>T (p.Lys1358Ter)
c.4045A>T (p.Lys1349Ter)
c.3991A>T (p.Lys1331Ter)
c.3391A>T (p.Lys1131Ter)
c.4339A>T (p.Lys1447Ter)
c.4336A>T (p.Lys1446Ter)
c.4255A>T (p.Lys1419Ter)
c.4186A>T (p.Lys1396Ter)
c.4054A>T (p.Lys1352Ter)
c.3922A>T (p.Lys1308Ter)
20g.32436788A>CCA408564390ASXL1c.4076A>C (p.Lys1359Thr)
c.3893A>C (p.Lys1298Thr)
n.6429A>C
c.1870-1642A>C (n.1870-1642A>C)
c.4061A>C (p.Lys1354Thr)
c.4073A>C (p.Lys1358Thr)
c.4046A>C (p.Lys1349Thr)
c.3992A>C (p.Lys1331Thr)
c.3392A>C (p.Lys1131Thr)
c.4340A>C (p.Lys1447Thr)
c.4337A>C (p.Lys1446Thr)
c.4256A>C (p.Lys1419Thr)
c.4187A>C (p.Lys1396Thr)
c.4055A>C (p.Lys1352Thr)
c.3923A>C (p.Lys1308Thr)
20g.32436788A>GCA408564389ASXL1c.4076A>G (p.Lys1359Arg)
c.3893A>G (p.Lys1298Arg)
n.6429A>G
c.1870-1642A>G (n.1870-1642A>G)
c.4061A>G (p.Lys1354Arg)
c.4073A>G (p.Lys1358Arg)
c.4046A>G (p.Lys1349Arg)
c.3992A>G (p.Lys1331Arg)
c.3392A>G (p.Lys1131Arg)
c.4340A>G (p.Lys1447Arg)
c.4337A>G (p.Lys1446Arg)
c.4256A>G (p.Lys1419Arg)
c.4187A>G (p.Lys1396Arg)
c.4055A>G (p.Lys1352Arg)
c.3923A>G (p.Lys1308Arg)
20g.32436788A>TCA408564388ASXL1c.4076A>T (p.Lys1359Met)
c.3893A>T (p.Lys1298Met)
n.6429A>T
c.1870-1642A>T (n.1870-1642A>T)
c.4061A>T (p.Lys1354Met)
c.4073A>T (p.Lys1358Met)
c.4046A>T (p.Lys1349Met)
c.3992A>T (p.Lys1331Met)
c.3392A>T (p.Lys1131Met)
c.4340A>T (p.Lys1447Met)
c.4337A>T (p.Lys1446Met)
c.4256A>T (p.Lys1419Met)
c.4187A>T (p.Lys1396Met)
c.4055A>T (p.Lys1352Met)
c.3923A>T (p.Lys1308Met)
20g.32436789G>ACA9808958ASXL1c.4077G>A (p.Lys1359=)
c.3894G>A (p.Lys1298=)
n.6430G>A
c.1870-1641G>A (n.1870-1641G>A)
c.4062G>A (p.Lys1354=)
c.4074G>A (p.Lys1358=)
c.4047G>A (p.Lys1349=)
c.3993G>A (p.Lys1331=)
c.3393G>A (p.Lys1131=)
c.4341G>A (p.Lys1447=)
c.4338G>A (p.Lys1446=)
c.4257G>A (p.Lys1419=)
c.4188G>A (p.Lys1396=)
c.4056G>A (p.Lys1352=)
c.3924G>A (p.Lys1308=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436789G>CCA408564391ASXL1c.4077G>C (p.Lys1359Asn)
c.3894G>C (p.Lys1298Asn)
n.6430G>C
c.1870-1641G>C (n.1870-1641G>C)
c.4062G>C (p.Lys1354Asn)
c.4074G>C (p.Lys1358Asn)
c.4047G>C (p.Lys1349Asn)
c.3993G>C (p.Lys1331Asn)
c.3393G>C (p.Lys1131Asn)
c.4341G>C (p.Lys1447Asn)
c.4338G>C (p.Lys1446Asn)
c.4257G>C (p.Lys1419Asn)
c.4188G>C (p.Lys1396Asn)
c.4056G>C (p.Lys1352Asn)
c.3924G>C (p.Lys1308Asn)
 dbSNP
20g.32436789G=CA2360293868ASXL1c.4077G= (p.Lys1359=)
c.3894G= (p.Lys1298=)
n.6430G=
c.1870-1641G= (n.1870-1641G=)
c.4062G= (p.Lys1354=)
c.4074G= (p.Lys1358=)
c.4047G= (p.Lys1349=)
c.3993G= (p.Lys1331=)
c.3393G= (p.Lys1131=)
c.4341G= (p.Lys1447=)
c.4338G= (p.Lys1446=)
c.4257G= (p.Lys1419=)
c.4188G= (p.Lys1396=)
c.4056G= (p.Lys1352=)
c.3924G= (p.Lys1308=)
20g.32436789G>TCA408564392ASXL1c.4077G>T (p.Lys1359Asn)
c.3894G>T (p.Lys1298Asn)
n.6430G>T
c.1870-1641G>T (n.1870-1641G>T)
c.4062G>T (p.Lys1354Asn)
c.4074G>T (p.Lys1358Asn)
c.4047G>T (p.Lys1349Asn)
c.3993G>T (p.Lys1331Asn)
c.3393G>T (p.Lys1131Asn)
c.4341G>T (p.Lys1447Asn)
c.4338G>T (p.Lys1446Asn)
c.4257G>T (p.Lys1419Asn)
c.4188G>T (p.Lys1396Asn)
c.4056G>T (p.Lys1352Asn)
c.3924G>T (p.Lys1308Asn)
 COSMIC COSMIC
20g.32436790C>ACA408564393ASXL1c.4078C>A (p.Pro1360Thr)
c.3895C>A (p.Pro1299Thr)
n.6431C>A
c.1870-1640C>A (n.1870-1640C>A)
c.4063C>A (p.Pro1355Thr)
c.4075C>A (p.Pro1359Thr)
c.4048C>A (p.Pro1350Thr)
c.3994C>A (p.Pro1332Thr)
c.3394C>A (p.Pro1132Thr)
c.4342C>A (p.Pro1448Thr)
c.4339C>A (p.Pro1447Thr)
c.4258C>A (p.Pro1420Thr)
c.4189C>A (p.Pro1397Thr)
c.4057C>A (p.Pro1353Thr)
c.3925C>A (p.Pro1309Thr)
 dbSNP
20g.32436790C=CA2360293869ASXL1c.4078C= (p.Pro1360=)
c.3895C= (p.Pro1299=)
n.6431C=
c.1870-1640C= (n.1870-1640C=)
c.4063C= (p.Pro1355=)
c.4075C= (p.Pro1359=)
c.4048C= (p.Pro1350=)
c.3994C= (p.Pro1332=)
c.3394C= (p.Pro1132=)
c.4342C= (p.Pro1448=)
c.4339C= (p.Pro1447=)
c.4258C= (p.Pro1420=)
c.4189C= (p.Pro1397=)
c.4057C= (p.Pro1353=)
c.3925C= (p.Pro1309=)
20g.32436790C>GCA408564394ASXL1c.4078C>G (p.Pro1360Ala)
c.3895C>G (p.Pro1299Ala)
n.6431C>G
c.1870-1640C>G (n.1870-1640C>G)
c.4063C>G (p.Pro1355Ala)
c.4075C>G (p.Pro1359Ala)
c.4048C>G (p.Pro1350Ala)
c.3994C>G (p.Pro1332Ala)
c.3394C>G (p.Pro1132Ala)
c.4342C>G (p.Pro1448Ala)
c.4339C>G (p.Pro1447Ala)
c.4258C>G (p.Pro1420Ala)
c.4189C>G (p.Pro1397Ala)
c.4057C>G (p.Pro1353Ala)
c.3925C>G (p.Pro1309Ala)
20g.32436790C>TCA408564395ASXL1c.4078C>T (p.Pro1360Ser)
c.3895C>T (p.Pro1299Ser)
n.6431C>T
c.1870-1640C>T (n.1870-1640C>T)
c.4063C>T (p.Pro1355Ser)
c.4075C>T (p.Pro1359Ser)
c.4048C>T (p.Pro1350Ser)
c.3994C>T (p.Pro1332Ser)
c.3394C>T (p.Pro1132Ser)
c.4342C>T (p.Pro1448Ser)
c.4339C>T (p.Pro1447Ser)
c.4258C>T (p.Pro1420Ser)
c.4189C>T (p.Pro1397Ser)
c.4057C>T (p.Pro1353Ser)
c.3925C>T (p.Pro1309Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.32436791C>ACA408564396ASXL1c.4079C>A (p.Pro1360Gln)
c.3896C>A (p.Pro1299Gln)
n.6432C>A
c.1870-1639C>A (n.1870-1639C>A)
c.4064C>A (p.Pro1355Gln)
c.4076C>A (p.Pro1359Gln)
c.4049C>A (p.Pro1350Gln)
c.3995C>A (p.Pro1332Gln)
c.3395C>A (p.Pro1132Gln)
c.4343C>A (p.Pro1448Gln)
c.4340C>A (p.Pro1447Gln)
c.4259C>A (p.Pro1420Gln)
c.4190C>A (p.Pro1397Gln)
c.4058C>A (p.Pro1353Gln)
c.3926C>A (p.Pro1309Gln)
20g.32436791C=CA2360293870ASXL1c.4079C= (p.Pro1360=)
c.3896C= (p.Pro1299=)
n.6432C=
c.1870-1639C= (n.1870-1639C=)
c.4064C= (p.Pro1355=)
c.4076C= (p.Pro1359=)
c.4049C= (p.Pro1350=)
c.3995C= (p.Pro1332=)
c.3395C= (p.Pro1132=)
c.4343C= (p.Pro1448=)
c.4340C= (p.Pro1447=)
c.4259C= (p.Pro1420=)
c.4190C= (p.Pro1397=)
c.4058C= (p.Pro1353=)
c.3926C= (p.Pro1309=)
20g.32436791C>GCA408564397ASXL1c.4079C>G (p.Pro1360Arg)
c.3896C>G (p.Pro1299Arg)
n.6432C>G
c.1870-1639C>G (n.1870-1639C>G)
c.4064C>G (p.Pro1355Arg)
c.4076C>G (p.Pro1359Arg)
c.4049C>G (p.Pro1350Arg)
c.3995C>G (p.Pro1332Arg)
c.3395C>G (p.Pro1132Arg)
c.4343C>G (p.Pro1448Arg)
c.4340C>G (p.Pro1447Arg)
c.4259C>G (p.Pro1420Arg)
c.4190C>G (p.Pro1397Arg)
c.4058C>G (p.Pro1353Arg)
c.3926C>G (p.Pro1309Arg)
20g.32436791C>TCA9808959ASXL1c.4079C>T (p.Pro1360Leu)
c.3896C>T (p.Pro1299Leu)
n.6432C>T
c.1870-1639C>T (n.1870-1639C>T)
c.4064C>T (p.Pro1355Leu)
c.4076C>T (p.Pro1359Leu)
c.4049C>T (p.Pro1350Leu)
c.3995C>T (p.Pro1332Leu)
c.3395C>T (p.Pro1132Leu)
c.4343C>T (p.Pro1448Leu)
c.4340C>T (p.Pro1447Leu)
c.4259C>T (p.Pro1420Leu)
c.4190C>T (p.Pro1397Leu)
c.4058C>T (p.Pro1353Leu)
c.3926C>T (p.Pro1309Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436792A=CA2360293871ASXL1c.4080A= (p.Pro1360=)
c.3897A= (p.Pro1299=)
n.6433A=
c.1870-1638A= (n.1870-1638A=)
c.4065A= (p.Pro1355=)
c.4077A= (p.Pro1359=)
c.4050A= (p.Pro1350=)
c.3996A= (p.Pro1332=)
c.3396A= (p.Pro1132=)
c.4344A= (p.Pro1448=)
c.4341A= (p.Pro1447=)
c.4260A= (p.Pro1420=)
c.4191A= (p.Pro1397=)
c.4059A= (p.Pro1353=)
c.3927A= (p.Pro1309=)
20g.32436792A>CCA510467647ASXL1c.4080A>C (p.Pro1360=)
c.3897A>C (p.Pro1299=)
n.6433A>C
c.1870-1638A>C (n.1870-1638A>C)
c.4065A>C (p.Pro1355=)
c.4077A>C (p.Pro1359=)
c.4050A>C (p.Pro1350=)
c.3996A>C (p.Pro1332=)
c.3396A>C (p.Pro1132=)
c.4344A>C (p.Pro1448=)
c.4341A>C (p.Pro1447=)
c.4260A>C (p.Pro1420=)
c.4191A>C (p.Pro1397=)
c.4059A>C (p.Pro1353=)
c.3927A>C (p.Pro1309=)
20g.32436792A>GCA510467648ASXL1c.4080A>G (p.Pro1360=)
c.3897A>G (p.Pro1299=)
n.6433A>G
c.1870-1638A>G (n.1870-1638A>G)
c.4065A>G (p.Pro1355=)
c.4077A>G (p.Pro1359=)
c.4050A>G (p.Pro1350=)
c.3996A>G (p.Pro1332=)
c.3396A>G (p.Pro1132=)
c.4344A>G (p.Pro1448=)
c.4341A>G (p.Pro1447=)
c.4260A>G (p.Pro1420=)
c.4191A>G (p.Pro1397=)
c.4059A>G (p.Pro1353=)
c.3927A>G (p.Pro1309=)
20g.32436792A>TCA510467649ASXL1c.4080A>T (p.Pro1360=)
c.3897A>T (p.Pro1299=)
n.6433A>T
c.1870-1638A>T (n.1870-1638A>T)
c.4065A>T (p.Pro1355=)
c.4077A>T (p.Pro1359=)
c.4050A>T (p.Pro1350=)
c.3996A>T (p.Pro1332=)
c.3396A>T (p.Pro1132=)
c.4344A>T (p.Pro1448=)
c.4341A>T (p.Pro1447=)
c.4260A>T (p.Pro1420=)
c.4191A>T (p.Pro1397=)
c.4059A>T (p.Pro1353=)
c.3927A>T (p.Pro1309=)
 dbSNP
20g.32436793C>ACA408564398ASXL1c.4081C>A (p.His1361Asn)
c.3898C>A (p.His1300Asn)
n.6434C>A
c.1870-1637C>A (n.1870-1637C>A)
c.4066C>A (p.His1356Asn)
c.4078C>A (p.His1360Asn)
c.4051C>A (p.His1351Asn)
c.3997C>A (p.His1333Asn)
c.3397C>A (p.His1133Asn)
c.4345C>A (p.His1449Asn)
c.4342C>A (p.His1448Asn)
c.4261C>A (p.His1421Asn)
c.4192C>A (p.His1398Asn)
c.4060C>A (p.His1354Asn)
c.3928C>A (p.His1310Asn)
20g.32436793C=CA2360293872ASXL1c.4081C= (p.His1361=)
c.3898C= (p.His1300=)
n.6434C=
c.1870-1637C= (n.1870-1637C=)
c.4066C= (p.His1356=)
c.4078C= (p.His1360=)
c.4051C= (p.His1351=)
c.3997C= (p.His1333=)
c.3397C= (p.His1133=)
c.4345C= (p.His1449=)
c.4342C= (p.His1448=)
c.4261C= (p.His1421=)
c.4192C= (p.His1398=)
c.4060C= (p.His1354=)
c.3928C= (p.His1310=)
20g.32436793C>GCA408564399ASXL1c.4081C>G (p.His1361Asp)
c.3898C>G (p.His1300Asp)
n.6434C>G
c.1870-1637C>G (n.1870-1637C>G)
c.4066C>G (p.His1356Asp)
c.4078C>G (p.His1360Asp)
c.4051C>G (p.His1351Asp)
c.3997C>G (p.His1333Asp)
c.3397C>G (p.His1133Asp)
c.4345C>G (p.His1449Asp)
c.4342C>G (p.His1448Asp)
c.4261C>G (p.His1421Asp)
c.4192C>G (p.His1398Asp)
c.4060C>G (p.His1354Asp)
c.3928C>G (p.His1310Asp)
20g.32436793C>TCA9808960ASXL1c.4081C>T (p.His1361Tyr)
c.3898C>T (p.His1300Tyr)
n.6434C>T
c.1870-1637C>T (n.1870-1637C>T)
c.4066C>T (p.His1356Tyr)
c.4078C>T (p.His1360Tyr)
c.4051C>T (p.His1351Tyr)
c.3997C>T (p.His1333Tyr)
c.3397C>T (p.His1133Tyr)
c.4345C>T (p.His1449Tyr)
c.4342C>T (p.His1448Tyr)
c.4261C>T (p.His1421Tyr)
c.4192C>T (p.His1398Tyr)
c.4060C>T (p.His1354Tyr)
c.3928C>T (p.His1310Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436794A=CA2360293873ASXL1c.4082A= (p.His1361=)
c.3899A= (p.His1300=)
n.6435A=
c.1870-1636A= (n.1870-1636A=)
c.4067A= (p.His1356=)
c.4079A= (p.His1360=)
c.4052A= (p.His1351=)
c.3998A= (p.His1333=)
c.3398A= (p.His1133=)
c.4346A= (p.His1449=)
c.4343A= (p.His1448=)
c.4262A= (p.His1421=)
c.4193A= (p.His1398=)
c.4061A= (p.His1354=)
c.3929A= (p.His1310=)
20g.32436794A>CCA408564402ASXL1c.4082A>C (p.His1361Pro)
c.3899A>C (p.His1300Pro)
n.6435A>C
c.1870-1636A>C (n.1870-1636A>C)
c.4067A>C (p.His1356Pro)
c.4079A>C (p.His1360Pro)
c.4052A>C (p.His1351Pro)
c.3998A>C (p.His1333Pro)
c.3398A>C (p.His1133Pro)
c.4346A>C (p.His1449Pro)
c.4343A>C (p.His1448Pro)
c.4262A>C (p.His1421Pro)
c.4193A>C (p.His1398Pro)
c.4061A>C (p.His1354Pro)
c.3929A>C (p.His1310Pro)
20g.32436794A>GCA408564401ASXL1c.4082A>G (p.His1361Arg)
c.3899A>G (p.His1300Arg)
n.6435A>G
c.1870-1636A>G (n.1870-1636A>G)
c.4067A>G (p.His1356Arg)
c.4079A>G (p.His1360Arg)
c.4052A>G (p.His1351Arg)
c.3998A>G (p.His1333Arg)
c.3398A>G (p.His1133Arg)
c.4346A>G (p.His1449Arg)
c.4343A>G (p.His1448Arg)
c.4262A>G (p.His1421Arg)
c.4193A>G (p.His1398Arg)
c.4061A>G (p.His1354Arg)
c.3929A>G (p.His1310Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436794A>TCA408564400ASXL1c.4082A>T (p.His1361Leu)
c.3899A>T (p.His1300Leu)
n.6435A>T
c.1870-1636A>T (n.1870-1636A>T)
c.4067A>T (p.His1356Leu)
c.4079A>T (p.His1360Leu)
c.4052A>T (p.His1351Leu)
c.3998A>T (p.His1333Leu)
c.3398A>T (p.His1133Leu)
c.4346A>T (p.His1449Leu)
c.4343A>T (p.His1448Leu)
c.4262A>T (p.His1421Leu)
c.4193A>T (p.His1398Leu)
c.4061A>T (p.His1354Leu)
c.3929A>T (p.His1310Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.32436795T>ACA408564403ASXL1c.4083T>A (p.His1361Gln)
c.3900T>A (p.His1300Gln)
n.6436T>A
c.1870-1635T>A (n.1870-1635T>A)
c.4068T>A (p.His1356Gln)
c.4080T>A (p.His1360Gln)
c.4053T>A (p.His1351Gln)
c.3999T>A (p.His1333Gln)
c.3399T>A (p.His1133Gln)
c.4347T>A (p.His1449Gln)
c.4344T>A (p.His1448Gln)
c.4263T>A (p.His1421Gln)
c.4194T>A (p.His1398Gln)
c.4062T>A (p.His1354Gln)
c.3930T>A (p.His1310Gln)
20g.32436795T>CCA9808961ASXL1c.4083T>C (p.His1361=)
c.3900T>C (p.His1300=)
n.6436T>C
c.1870-1635T>C (n.1870-1635T>C)
c.4068T>C (p.His1356=)
c.4080T>C (p.His1360=)
c.4053T>C (p.His1351=)
c.3999T>C (p.His1333=)
c.3399T>C (p.His1133=)
c.4347T>C (p.His1449=)
c.4344T>C (p.His1448=)
c.4263T>C (p.His1421=)
c.4194T>C (p.His1398=)
c.4062T>C (p.His1354=)
c.3930T>C (p.His1310=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
20g.32436795T>GCA408564404ASXL1c.4083T>G (p.His1361Gln)
c.3900T>G (p.His1300Gln)
n.6436T>G
c.1870-1635T>G (n.1870-1635T>G)
c.4068T>G (p.His1356Gln)
c.4080T>G (p.His1360Gln)
c.4053T>G (p.His1351Gln)
c.3999T>G (p.His1333Gln)
c.3399T>G (p.His1133Gln)
c.4347T>G (p.His1449Gln)
c.4344T>G (p.His1448Gln)
c.4263T>G (p.His1421Gln)
c.4194T>G (p.His1398Gln)
c.4062T>G (p.His1354Gln)
c.3930T>G (p.His1310Gln)
20g.32436795T=CA2360293874ASXL1c.4083T= (p.His1361=)
c.3900T= (p.His1300=)
n.6436T=
c.1870-1635T= (n.1870-1635T=)
c.4068T= (p.His1356=)
c.4080T= (p.His1360=)
c.4053T= (p.His1351=)
c.3999T= (p.His1333=)
c.3399T= (p.His1133=)
c.4347T= (p.His1449=)
c.4344T= (p.His1448=)
c.4263T= (p.His1421=)
c.4194T= (p.His1398=)
c.4062T= (p.His1354=)
c.3930T= (p.His1310=)
20g.32436796G>ACA408564405ASXL1c.4084G>A (p.Ala1362Thr)
c.3901G>A (p.Ala1301Thr)
n.6437G>A
c.1870-1634G>A (n.1870-1634G>A)
c.4069G>A (p.Ala1357Thr)
c.4081G>A (p.Ala1361Thr)
c.4054G>A (p.Ala1352Thr)
c.4000G>A (p.Ala1334Thr)
c.3400G>A (p.Ala1134Thr)
c.4348G>A (p.Ala1450Thr)
c.4345G>A (p.Ala1449Thr)
c.4264G>A (p.Ala1422Thr)
c.4195G>A (p.Ala1399Thr)
c.4063G>A (p.Ala1355Thr)
c.3931G>A (p.Ala1311Thr)
 dbSNP gnomAD v4
20g.32436796G>CCA408564406ASXL1c.4084G>C (p.Ala1362Pro)
c.3901G>C (p.Ala1301Pro)
n.6437G>C
c.1870-1634G>C (n.1870-1634G>C)
c.4069G>C (p.Ala1357Pro)
c.4081G>C (p.Ala1361Pro)
c.4054G>C (p.Ala1352Pro)
c.4000G>C (p.Ala1334Pro)
c.3400G>C (p.Ala1134Pro)
c.4348G>C (p.Ala1450Pro)
c.4345G>C (p.Ala1449Pro)
c.4264G>C (p.Ala1422Pro)
c.4195G>C (p.Ala1399Pro)
c.4063G>C (p.Ala1355Pro)
c.3931G>C (p.Ala1311Pro)
20g.32436796G=CA2360293875ASXL1c.4084G= (p.Ala1362=)
c.3901G= (p.Ala1301=)
n.6437G=
c.1870-1634G= (n.1870-1634G=)
c.4069G= (p.Ala1357=)
c.4081G= (p.Ala1361=)
c.4054G= (p.Ala1352=)
c.4000G= (p.Ala1334=)
c.3400G= (p.Ala1134=)
c.4348G= (p.Ala1450=)
c.4345G= (p.Ala1449=)
c.4264G= (p.Ala1422=)
c.4195G= (p.Ala1399=)
c.4063G= (p.Ala1355=)
c.3931G= (p.Ala1311=)
20g.32436796G>TCA408564407ASXL1c.4084G>T (p.Ala1362Ser)
c.3901G>T (p.Ala1301Ser)
n.6437G>T
c.1870-1634G>T (n.1870-1634G>T)
c.4069G>T (p.Ala1357Ser)
c.4081G>T (p.Ala1361Ser)
c.4054G>T (p.Ala1352Ser)
c.4000G>T (p.Ala1334Ser)
c.3400G>T (p.Ala1134Ser)
c.4348G>T (p.Ala1450Ser)
c.4345G>T (p.Ala1449Ser)
c.4264G>T (p.Ala1422Ser)
c.4195G>T (p.Ala1399Ser)
c.4063G>T (p.Ala1355Ser)
c.3931G>T (p.Ala1311Ser)
20g.32436797C>ACA408564408ASXL1c.4085C>A (p.Ala1362Asp)
c.3902C>A (p.Ala1301Asp)
n.6438C>A
c.1870-1633C>A (n.1870-1633C>A)
c.4070C>A (p.Ala1357Asp)
c.4082C>A (p.Ala1361Asp)
c.4055C>A (p.Ala1352Asp)
c.4001C>A (p.Ala1334Asp)
c.3401C>A (p.Ala1134Asp)
c.4349C>A (p.Ala1450Asp)
c.4346C>A (p.Ala1449Asp)
c.4265C>A (p.Ala1422Asp)
c.4196C>A (p.Ala1399Asp)
c.4064C>A (p.Ala1355Asp)
c.3932C>A (p.Ala1311Asp)
 dbSNP
20g.32436797C>GCA408564409ASXL1c.4085C>G (p.Ala1362Gly)
c.3902C>G (p.Ala1301Gly)
n.6438C>G
c.1870-1633C>G (n.1870-1633C>G)
c.4070C>G (p.Ala1357Gly)
c.4082C>G (p.Ala1361Gly)
c.4055C>G (p.Ala1352Gly)
c.4001C>G (p.Ala1334Gly)
c.3401C>G (p.Ala1134Gly)
c.4349C>G (p.Ala1450Gly)
c.4346C>G (p.Ala1449Gly)
c.4265C>G (p.Ala1422Gly)
c.4196C>G (p.Ala1399Gly)
c.4064C>G (p.Ala1355Gly)
c.3932C>G (p.Ala1311Gly)
20g.32436797C>TCA408564410ASXL1c.4085C>T (p.Ala1362Val)
c.3902C>T (p.Ala1301Val)
n.6438C>T
c.1870-1633C>T (n.1870-1633C>T)
c.4070C>T (p.Ala1357Val)
c.4082C>T (p.Ala1361Val)
c.4055C>T (p.Ala1352Val)
c.4001C>T (p.Ala1334Val)
c.3401C>T (p.Ala1134Val)
c.4349C>T (p.Ala1450Val)
c.4346C>T (p.Ala1449Val)
c.4265C>T (p.Ala1422Val)
c.4196C>T (p.Ala1399Val)
c.4064C>T (p.Ala1355Val)
c.3932C>T (p.Ala1311Val)
20g.32436798C>ACA510467654ASXL1c.4086C>A (p.Ala1362=)
c.3903C>A (p.Ala1301=)
n.6439C>A
c.1870-1632C>A (n.1870-1632C>A)
c.4071C>A (p.Ala1357=)
c.4083C>A (p.Ala1361=)
c.4056C>A (p.Ala1352=)
c.4002C>A (p.Ala1334=)
c.3402C>A (p.Ala1134=)
c.4350C>A (p.Ala1450=)
c.4347C>A (p.Ala1449=)
c.4266C>A (p.Ala1422=)
c.4197C>A (p.Ala1399=)
c.4065C>A (p.Ala1355=)
c.3933C>A (p.Ala1311=)
20g.32436798C>GCA510467655ASXL1c.4086C>G (p.Ala1362=)
c.3903C>G (p.Ala1301=)
n.6439C>G
c.1870-1632C>G (n.1870-1632C>G)
c.4071C>G (p.Ala1357=)
c.4083C>G (p.Ala1361=)
c.4056C>G (p.Ala1352=)
c.4002C>G (p.Ala1334=)
c.3402C>G (p.Ala1134=)
c.4350C>G (p.Ala1450=)
c.4347C>G (p.Ala1449=)
c.4266C>G (p.Ala1422=)
c.4197C>G (p.Ala1399=)
c.4065C>G (p.Ala1355=)
c.3933C>G (p.Ala1311=)
20g.32436798C>TCA510467656ASXL1c.4086C>T (p.Ala1362=)
c.3903C>T (p.Ala1301=)
n.6439C>T
c.1870-1632C>T (n.1870-1632C>T)
c.4071C>T (p.Ala1357=)
c.4083C>T (p.Ala1361=)
c.4056C>T (p.Ala1352=)
c.4002C>T (p.Ala1334=)
c.3402C>T (p.Ala1134=)
c.4350C>T (p.Ala1450=)
c.4347C>T (p.Ala1449=)
c.4266C>T (p.Ala1422=)
c.4197C>T (p.Ala1399=)
c.4065C>T (p.Ala1355=)
c.3933C>T (p.Ala1311=)
20g.32436799T>ACA408564411ASXL1c.4087T>A (p.Phe1363Ile)
c.3904T>A (p.Phe1302Ile)
n.6440T>A
c.1870-1631T>A (n.1870-1631T>A)
c.4072T>A (p.Phe1358Ile)
c.4084T>A (p.Phe1362Ile)
c.4057T>A (p.Phe1353Ile)
c.4003T>A (p.Phe1335Ile)
c.3403T>A (p.Phe1135Ile)
c.4351T>A (p.Phe1451Ile)
c.4348T>A (p.Phe1450Ile)
c.4267T>A (p.Phe1423Ile)
c.4198T>A (p.Phe1400Ile)
c.4066T>A (p.Phe1356Ile)
c.3934T>A (p.Phe1312Ile)
20g.32436799T>CCA408564412ASXL1c.4087T>C (p.Phe1363Leu)
c.3904T>C (p.Phe1302Leu)
n.6440T>C
c.1870-1631T>C (n.1870-1631T>C)
c.4072T>C (p.Phe1358Leu)
c.4084T>C (p.Phe1362Leu)
c.4057T>C (p.Phe1353Leu)
c.4003T>C (p.Phe1335Leu)
c.3403T>C (p.Phe1135Leu)
c.4351T>C (p.Phe1451Leu)
c.4348T>C (p.Phe1450Leu)
c.4267T>C (p.Phe1423Leu)
c.4198T>C (p.Phe1400Leu)
c.4066T>C (p.Phe1356Leu)
c.3934T>C (p.Phe1312Leu)
20g.32436799T>GCA408564413ASXL1c.4087T>G (p.Phe1363Val)
c.3904T>G (p.Phe1302Val)
n.6440T>G
c.1870-1631T>G (n.1870-1631T>G)
c.4072T>G (p.Phe1358Val)
c.4084T>G (p.Phe1362Val)
c.4057T>G (p.Phe1353Val)
c.4003T>G (p.Phe1335Val)
c.3403T>G (p.Phe1135Val)
c.4351T>G (p.Phe1451Val)
c.4348T>G (p.Phe1450Val)
c.4267T>G (p.Phe1423Val)
c.4198T>G (p.Phe1400Val)
c.4066T>G (p.Phe1356Val)
c.3934T>G (p.Phe1312Val)
20g.32436800T>ACA408564416ASXL1c.4088T>A (p.Phe1363Tyr)
c.3905T>A (p.Phe1302Tyr)
n.6441T>A
c.1870-1630T>A (n.1870-1630T>A)
c.4073T>A (p.Phe1358Tyr)
c.4085T>A (p.Phe1362Tyr)
c.4058T>A (p.Phe1353Tyr)
c.4004T>A (p.Phe1335Tyr)
c.3404T>A (p.Phe1135Tyr)
c.4352T>A (p.Phe1451Tyr)
c.4349T>A (p.Phe1450Tyr)
c.4268T>A (p.Phe1423Tyr)
c.4199T>A (p.Phe1400Tyr)
c.4067T>A (p.Phe1356Tyr)
c.3935T>A (p.Phe1312Tyr)
20g.32436800T>CCA408564415ASXL1c.4088T>C (p.Phe1363Ser)
c.3905T>C (p.Phe1302Ser)
n.6441T>C
c.1870-1630T>C (n.1870-1630T>C)
c.4073T>C (p.Phe1358Ser)
c.4085T>C (p.Phe1362Ser)
c.4058T>C (p.Phe1353Ser)
c.4004T>C (p.Phe1335Ser)
c.3404T>C (p.Phe1135Ser)
c.4352T>C (p.Phe1451Ser)
c.4349T>C (p.Phe1450Ser)
c.4268T>C (p.Phe1423Ser)
c.4199T>C (p.Phe1400Ser)
c.4067T>C (p.Phe1356Ser)
c.3935T>C (p.Phe1312Ser)
20g.32436800T>GCA408564414ASXL1c.4088T>G (p.Phe1363Cys)
c.3905T>G (p.Phe1302Cys)
n.6441T>G
c.1870-1630T>G (n.1870-1630T>G)
c.4073T>G (p.Phe1358Cys)
c.4085T>G (p.Phe1362Cys)
c.4058T>G (p.Phe1353Cys)
c.4004T>G (p.Phe1335Cys)
c.3404T>G (p.Phe1135Cys)
c.4352T>G (p.Phe1451Cys)
c.4349T>G (p.Phe1450Cys)
c.4268T>G (p.Phe1423Cys)
c.4199T>G (p.Phe1400Cys)
c.4067T>G (p.Phe1356Cys)
c.3935T>G (p.Phe1312Cys)
20g.32436801T>ACA408564417ASXL1c.4089T>A (p.Phe1363Leu)
c.3906T>A (p.Phe1302Leu)
n.6442T>A
c.1870-1629T>A (n.1870-1629T>A)
c.4074T>A (p.Phe1358Leu)
c.4086T>A (p.Phe1362Leu)
c.4059T>A (p.Phe1353Leu)
c.4005T>A (p.Phe1335Leu)
c.3405T>A (p.Phe1135Leu)
c.4353T>A (p.Phe1451Leu)
c.4350T>A (p.Phe1450Leu)
c.4269T>A (p.Phe1423Leu)
c.4200T>A (p.Phe1400Leu)
c.4068T>A (p.Phe1356Leu)
c.3936T>A (p.Phe1312Leu)
20g.32436801T>CCA510467658ASXL1c.4089T>C (p.Phe1363=)
c.3906T>C (p.Phe1302=)
n.6442T>C
c.1870-1629T>C (n.1870-1629T>C)
c.4074T>C (p.Phe1358=)
c.4086T>C (p.Phe1362=)
c.4059T>C (p.Phe1353=)
c.4005T>C (p.Phe1335=)
c.3405T>C (p.Phe1135=)
c.4353T>C (p.Phe1451=)
c.4350T>C (p.Phe1450=)
c.4269T>C (p.Phe1423=)
c.4200T>C (p.Phe1400=)
c.4068T>C (p.Phe1356=)
c.3936T>C (p.Phe1312=)
20g.32436801T>GCA408564418ASXL1c.4089T>G (p.Phe1363Leu)
c.3906T>G (p.Phe1302Leu)
n.6442T>G
c.1870-1629T>G (n.1870-1629T>G)
c.4074T>G (p.Phe1358Leu)
c.4086T>G (p.Phe1362Leu)
c.4059T>G (p.Phe1353Leu)
c.4005T>G (p.Phe1335Leu)
c.3405T>G (p.Phe1135Leu)
c.4353T>G (p.Phe1451Leu)
c.4350T>G (p.Phe1450Leu)
c.4269T>G (p.Phe1423Leu)
c.4200T>G (p.Phe1400Leu)
c.4068T>G (p.Phe1356Leu)
c.3936T>G (p.Phe1312Leu)
20g.32436802G>ACA408564419ASXL1c.4090G>A (p.Val1364Ile)
c.3907G>A (p.Val1303Ile)
n.6443G>A
c.1870-1628G>A (n.1870-1628G>A)
c.4075G>A (p.Val1359Ile)
c.4087G>A (p.Val1363Ile)
c.4060G>A (p.Val1354Ile)
c.4006G>A (p.Val1336Ile)
c.3406G>A (p.Val1136Ile)
c.4354G>A (p.Val1452Ile)
c.4351G>A (p.Val1451Ile)
c.4270G>A (p.Val1424Ile)
c.4201G>A (p.Val1401Ile)
c.4069G>A (p.Val1357Ile)
c.3937G>A (p.Val1313Ile)
20g.32436802G>CCA408564421ASXL1c.4090G>C (p.Val1364Leu)
c.3907G>C (p.Val1303Leu)
n.6443G>C
c.1870-1628G>C (n.1870-1628G>C)
c.4075G>C (p.Val1359Leu)
c.4087G>C (p.Val1363Leu)
c.4060G>C (p.Val1354Leu)
c.4006G>C (p.Val1336Leu)
c.3406G>C (p.Val1136Leu)
c.4354G>C (p.Val1452Leu)
c.4351G>C (p.Val1451Leu)
c.4270G>C (p.Val1424Leu)
c.4201G>C (p.Val1401Leu)
c.4069G>C (p.Val1357Leu)
c.3937G>C (p.Val1313Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.32436802G=CA2360293876ASXL1c.4090G= (p.Val1364=)
c.3907G= (p.Val1303=)
n.6443G=
c.1870-1628G= (n.1870-1628G=)
c.4075G= (p.Val1359=)
c.4087G= (p.Val1363=)
c.4060G= (p.Val1354=)
c.4006G= (p.Val1336=)
c.3406G= (p.Val1136=)
c.4354G= (p.Val1452=)
c.4351G= (p.Val1451=)
c.4270G= (p.Val1424=)
c.4201G= (p.Val1401=)
c.4069G= (p.Val1357=)
c.3937G= (p.Val1313=)
20g.32436802G>TCA408564420ASXL1c.4090G>T (p.Val1364Phe)
c.3907G>T (p.Val1303Phe)
n.6443G>T
c.1870-1628G>T (n.1870-1628G>T)
c.4075G>T (p.Val1359Phe)
c.4087G>T (p.Val1363Phe)
c.4060G>T (p.Val1354Phe)
c.4006G>T (p.Val1336Phe)
c.3406G>T (p.Val1136Phe)
c.4354G>T (p.Val1452Phe)
c.4351G>T (p.Val1451Phe)
c.4270G>T (p.Val1424Phe)
c.4201G>T (p.Val1401Phe)
c.4069G>T (p.Val1357Phe)
c.3937G>T (p.Val1313Phe)
20g.32436803T>ACA408564422ASXL1c.4091T>A (p.Val1364Asp)
c.3908T>A (p.Val1303Asp)
n.6444T>A
c.1870-1627T>A (n.1870-1627T>A)
c.4076T>A (p.Val1359Asp)
c.4088T>A (p.Val1363Asp)
c.4061T>A (p.Val1354Asp)
c.4007T>A (p.Val1336Asp)
c.3407T>A (p.Val1136Asp)
c.4355T>A (p.Val1452Asp)
c.4352T>A (p.Val1451Asp)
c.4271T>A (p.Val1424Asp)
c.4202T>A (p.Val1401Asp)
c.4070T>A (p.Val1357Asp)
c.3938T>A (p.Val1313Asp)
20g.32436803T>CCA408564424ASXL1c.4091T>C (p.Val1364Ala)
c.3908T>C (p.Val1303Ala)
n.6444T>C
c.1870-1627T>C (n.1870-1627T>C)
c.4076T>C (p.Val1359Ala)
c.4088T>C (p.Val1363Ala)
c.4061T>C (p.Val1354Ala)
c.4007T>C (p.Val1336Ala)
c.3407T>C (p.Val1136Ala)
c.4355T>C (p.Val1452Ala)
c.4352T>C (p.Val1451Ala)
c.4271T>C (p.Val1424Ala)
c.4202T>C (p.Val1401Ala)
c.4070T>C (p.Val1357Ala)
c.3938T>C (p.Val1313Ala)
20g.32436803T>GCA408564423ASXL1c.4091T>G (p.Val1364Gly)
c.3908T>G (p.Val1303Gly)
n.6444T>G
c.1870-1627T>G (n.1870-1627T>G)
c.4076T>G (p.Val1359Gly)
c.4088T>G (p.Val1363Gly)
c.4061T>G (p.Val1354Gly)
c.4007T>G (p.Val1336Gly)
c.3407T>G (p.Val1136Gly)
c.4355T>G (p.Val1452Gly)
c.4352T>G (p.Val1451Gly)
c.4271T>G (p.Val1424Gly)
c.4202T>G (p.Val1401Gly)
c.4070T>G (p.Val1357Gly)
c.3938T>G (p.Val1313Gly)
20g.32436804T>ACA510467664ASXL1c.4092T>A (p.Val1364=)
c.3909T>A (p.Val1303=)
n.6445T>A
c.1870-1626T>A (n.1870-1626T>A)
c.4077T>A (p.Val1359=)
c.4089T>A (p.Val1363=)
c.4062T>A (p.Val1354=)
c.4008T>A (p.Val1336=)
c.3408T>A (p.Val1136=)
c.4356T>A (p.Val1452=)
c.4353T>A (p.Val1451=)
c.4272T>A (p.Val1424=)
c.4203T>A (p.Val1401=)
c.4071T>A (p.Val1357=)
c.3939T>A (p.Val1313=)
20g.32436804T>CCA510467662ASXL1c.4092T>C (p.Val1364=)
c.3909T>C (p.Val1303=)
n.6445T>C
c.1870-1626T>C (n.1870-1626T>C)
c.4077T>C (p.Val1359=)
c.4089T>C (p.Val1363=)
c.4062T>C (p.Val1354=)
c.4008T>C (p.Val1336=)
c.3408T>C (p.Val1136=)
c.4356T>C (p.Val1452=)
c.4353T>C (p.Val1451=)
c.4272T>C (p.Val1424=)
c.4203T>C (p.Val1401=)
c.4071T>C (p.Val1357=)
c.3939T>C (p.Val1313=)
20g.32436804T>GCA510467663ASXL1c.4092T>G (p.Val1364=)
c.3909T>G (p.Val1303=)
n.6445T>G
c.1870-1626T>G (n.1870-1626T>G)
c.4077T>G (p.Val1359=)
c.4089T>G (p.Val1363=)
c.4062T>G (p.Val1354=)
c.4008T>G (p.Val1336=)
c.3408T>G (p.Val1136=)
c.4356T>G (p.Val1452=)
c.4353T>G (p.Val1451=)
c.4272T>G (p.Val1424=)
c.4203T>G (p.Val1401=)
c.4071T>G (p.Val1357=)
c.3939T>G (p.Val1313=)
20g.32436805G>ACA408564425ASXL1c.4093G>A (p.Gly1365Ser)
c.3910G>A (p.Gly1304Ser)
n.6446G>A
c.1870-1625G>A (n.1870-1625G>A)
c.4078G>A (p.Gly1360Ser)
c.4090G>A (p.Gly1364Ser)
c.4063G>A (p.Gly1355Ser)
c.4009G>A (p.Gly1337Ser)
c.3409G>A (p.Gly1137Ser)
c.4357G>A (p.Gly1453Ser)
c.4354G>A (p.Gly1452Ser)
c.4273G>A (p.Gly1425Ser)
c.4204G>A (p.Gly1402Ser)
c.4072G>A (p.Gly1358Ser)
c.3940G>A (p.Gly1314Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.32436805G>CCA408564426ASXL1c.4093G>C (p.Gly1365Arg)
c.3910G>C (p.Gly1304Arg)
n.6446G>C
c.1870-1625G>C (n.1870-1625G>C)
c.4078G>C (p.Gly1360Arg)
c.4090G>C (p.Gly1364Arg)
c.4063G>C (p.Gly1355Arg)
c.4009G>C (p.Gly1337Arg)
c.3409G>C (p.Gly1137Arg)
c.4357G>C (p.Gly1453Arg)
c.4354G>C (p.Gly1452Arg)
c.4273G>C (p.Gly1425Arg)
c.4204G>C (p.Gly1402Arg)
c.4072G>C (p.Gly1358Arg)
c.3940G>C (p.Gly1314Arg)
20g.32436805G=CA2360293877ASXL1c.4093G= (p.Gly1365=)
c.3910G= (p.Gly1304=)
n.6446G=
c.1870-1625G= (n.1870-1625G=)
c.4078G= (p.Gly1360=)
c.4090G= (p.Gly1364=)
c.4063G= (p.Gly1355=)
c.4009G= (p.Gly1337=)
c.3409G= (p.Gly1137=)
c.4357G= (p.Gly1453=)
c.4354G= (p.Gly1452=)
c.4273G= (p.Gly1425=)
c.4204G= (p.Gly1402=)
c.4072G= (p.Gly1358=)
c.3940G= (p.Gly1314=)
20g.32436805G>TCA408564427ASXL1c.4093G>T (p.Gly1365Cys)
c.3910G>T (p.Gly1304Cys)
n.6446G>T
c.1870-1625G>T (n.1870-1625G>T)
c.4078G>T (p.Gly1360Cys)
c.4090G>T (p.Gly1364Cys)
c.4063G>T (p.Gly1355Cys)
c.4009G>T (p.Gly1337Cys)
c.3409G>T (p.Gly1137Cys)
c.4357G>T (p.Gly1453Cys)
c.4354G>T (p.Gly1452Cys)
c.4273G>T (p.Gly1425Cys)
c.4204G>T (p.Gly1402Cys)
c.4072G>T (p.Gly1358Cys)
c.3940G>T (p.Gly1314Cys)
20g.32436806G>ACA408564428ASXL1c.4094G>A (p.Gly1365Asp)
c.3911G>A (p.Gly1304Asp)
n.6447G>A
c.1870-1624G>A (n.1870-1624G>A)
c.4079G>A (p.Gly1360Asp)
c.4091G>A (p.Gly1364Asp)
c.4064G>A (p.Gly1355Asp)
c.4010G>A (p.Gly1337Asp)
c.3410G>A (p.Gly1137Asp)
c.4358G>A (p.Gly1453Asp)
c.4355G>A (p.Gly1452Asp)
c.4274G>A (p.Gly1425Asp)
c.4205G>A (p.Gly1402Asp)
c.4073G>A (p.Gly1358Asp)
c.3941G>A (p.Gly1314Asp)
 dbSNP
20g.32436806G>CCA408564429ASXL1c.4094G>C (p.Gly1365Ala)
c.3911G>C (p.Gly1304Ala)
n.6447G>C
c.1870-1624G>C (n.1870-1624G>C)
c.4079G>C (p.Gly1360Ala)
c.4091G>C (p.Gly1364Ala)
c.4064G>C (p.Gly1355Ala)
c.4010G>C (p.Gly1337Ala)
c.3410G>C (p.Gly1137Ala)
c.4358G>C (p.Gly1453Ala)
c.4355G>C (p.Gly1452Ala)
c.4274G>C (p.Gly1425Ala)
c.4205G>C (p.Gly1402Ala)
c.4073G>C (p.Gly1358Ala)
c.3941G>C (p.Gly1314Ala)
20g.32436806G>TCA408564430ASXL1c.4094G>T (p.Gly1365Val)
c.3911G>T (p.Gly1304Val)
n.6447G>T
c.1870-1624G>T (n.1870-1624G>T)
c.4079G>T (p.Gly1360Val)
c.4091G>T (p.Gly1364Val)
c.4064G>T (p.Gly1355Val)
c.4010G>T (p.Gly1337Val)
c.3410G>T (p.Gly1137Val)
c.4358G>T (p.Gly1453Val)
c.4355G>T (p.Gly1452Val)
c.4274G>T (p.Gly1425Val)
c.4205G>T (p.Gly1402Val)
c.4073G>T (p.Gly1358Val)
c.3941G>T (p.Gly1314Val)
20g.32436807C>ACA510467668ASXL1c.4095C>A (p.Gly1365=)
c.3912C>A (p.Gly1304=)
n.6448C>A
c.1870-1623C>A (n.1870-1623C>A)
c.4080C>A (p.Gly1360=)
c.4092C>A (p.Gly1364=)
c.4065C>A (p.Gly1355=)
c.4011C>A (p.Gly1337=)
c.3411C>A (p.Gly1137=)
c.4359C>A (p.Gly1453=)
c.4356C>A (p.Gly1452=)
c.4275C>A (p.Gly1425=)
c.4206C>A (p.Gly1402=)
c.4074C>A (p.Gly1358=)
c.3942C>A (p.Gly1314=)
 gnomAD v4
20g.32436807C=CA2360293878ASXL1c.4095C= (p.Gly1365=)
c.3912C= (p.Gly1304=)
n.6448C=
c.1870-1623C= (n.1870-1623C=)
c.4080C= (p.Gly1360=)
c.4092C= (p.Gly1364=)
c.4065C= (p.Gly1355=)
c.4011C= (p.Gly1337=)
c.3411C= (p.Gly1137=)
c.4359C= (p.Gly1453=)
c.4356C= (p.Gly1452=)
c.4275C= (p.Gly1425=)
c.4206C= (p.Gly1402=)
c.4074C= (p.Gly1358=)
c.3942C= (p.Gly1314=)
20g.32436807C>GCA510467669ASXL1c.4095C>G (p.Gly1365=)
c.3912C>G (p.Gly1304=)
n.6448C>G
c.1870-1623C>G (n.1870-1623C>G)
c.4080C>G (p.Gly1360=)
c.4092C>G (p.Gly1364=)
c.4065C>G (p.Gly1355=)
c.4011C>G (p.Gly1337=)
c.3411C>G (p.Gly1137=)
c.4359C>G (p.Gly1453=)
c.4356C>G (p.Gly1452=)
c.4275C>G (p.Gly1425=)
c.4206C>G (p.Gly1402=)
c.4074C>G (p.Gly1358=)
c.3942C>G (p.Gly1314=)
20g.32436807C>TCA9808962ASXL1c.4095C>T (p.Gly1365=)
c.3912C>T (p.Gly1304=)
n.6448C>T
c.1870-1623C>T (n.1870-1623C>T)
c.4080C>T (p.Gly1360=)
c.4092C>T (p.Gly1364=)
c.4065C>T (p.Gly1355=)
c.4011C>T (p.Gly1337=)
c.3411C>T (p.Gly1137=)
c.4359C>T (p.Gly1453=)
c.4356C>T (p.Gly1452=)
c.4275C>T (p.Gly1425=)
c.4206C>T (p.Gly1402=)
c.4074C>T (p.Gly1358=)
c.3942C>T (p.Gly1314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436808A=CA2360293879ASXL1c.4096A= (p.Ser1366=)
c.3913A= (p.Ser1305=)
n.6449A=
c.1870-1622A= (n.1870-1622A=)
c.4081A= (p.Ser1361=)
c.4093A= (p.Ser1365=)
c.4066A= (p.Ser1356=)
c.4012A= (p.Ser1338=)
c.3412A= (p.Ser1138=)
c.4360A= (p.Ser1454=)
c.4357A= (p.Ser1453=)
c.4276A= (p.Ser1426=)
c.4207A= (p.Ser1403=)
c.4075A= (p.Ser1359=)
c.3943A= (p.Ser1315=)
20g.32436808A>CCA408564431ASXL1c.4096A>C (p.Ser1366Arg)
c.3913A>C (p.Ser1305Arg)
n.6449A>C
c.1870-1622A>C (n.1870-1622A>C)
c.4081A>C (p.Ser1361Arg)
c.4093A>C (p.Ser1365Arg)
c.4066A>C (p.Ser1356Arg)
c.4012A>C (p.Ser1338Arg)
c.3412A>C (p.Ser1138Arg)
c.4360A>C (p.Ser1454Arg)
c.4357A>C (p.Ser1453Arg)
c.4276A>C (p.Ser1426Arg)
c.4207A>C (p.Ser1403Arg)
c.4075A>C (p.Ser1359Arg)
c.3943A>C (p.Ser1315Arg)
20g.32436808A>GCA408564432ASXL1c.4096A>G (p.Ser1366Gly)
c.3913A>G (p.Ser1305Gly)
n.6449A>G
c.1870-1622A>G (n.1870-1622A>G)
c.4081A>G (p.Ser1361Gly)
c.4093A>G (p.Ser1365Gly)
c.4066A>G (p.Ser1356Gly)
c.4012A>G (p.Ser1338Gly)
c.3412A>G (p.Ser1138Gly)
c.4360A>G (p.Ser1454Gly)
c.4357A>G (p.Ser1453Gly)
c.4276A>G (p.Ser1426Gly)
c.4207A>G (p.Ser1403Gly)
c.4075A>G (p.Ser1359Gly)
c.3943A>G (p.Ser1315Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.32436808A>TCA408564433ASXL1c.4096A>T (p.Ser1366Cys)
c.3913A>T (p.Ser1305Cys)
n.6449A>T
c.1870-1622A>T (n.1870-1622A>T)
c.4081A>T (p.Ser1361Cys)
c.4093A>T (p.Ser1365Cys)
c.4066A>T (p.Ser1356Cys)
c.4012A>T (p.Ser1338Cys)
c.3412A>T (p.Ser1138Cys)
c.4360A>T (p.Ser1454Cys)
c.4357A>T (p.Ser1453Cys)
c.4276A>T (p.Ser1426Cys)
c.4207A>T (p.Ser1403Cys)
c.4075A>T (p.Ser1359Cys)
c.3943A>T (p.Ser1315Cys)
20g.32436809G>ACA408564434ASXL1c.4097G>A (p.Ser1366Asn)
c.3914G>A (p.Ser1305Asn)
n.6450G>A
c.1870-1621G>A (n.1870-1621G>A)
c.4082G>A (p.Ser1361Asn)
c.4094G>A (p.Ser1365Asn)
c.4067G>A (p.Ser1356Asn)
c.4013G>A (p.Ser1338Asn)
c.3413G>A (p.Ser1138Asn)
c.4361G>A (p.Ser1454Asn)
c.4358G>A (p.Ser1453Asn)
c.4277G>A (p.Ser1426Asn)
c.4208G>A (p.Ser1403Asn)
c.4076G>A (p.Ser1359Asn)
c.3944G>A (p.Ser1315Asn)
 dbSNP
20g.32436809G>CCA408564435ASXL1c.4097G>C (p.Ser1366Thr)
c.3914G>C (p.Ser1305Thr)
n.6450G>C
c.1870-1621G>C (n.1870-1621G>C)
c.4082G>C (p.Ser1361Thr)
c.4094G>C (p.Ser1365Thr)
c.4067G>C (p.Ser1356Thr)
c.4013G>C (p.Ser1338Thr)
c.3413G>C (p.Ser1138Thr)
c.4361G>C (p.Ser1454Thr)
c.4358G>C (p.Ser1453Thr)
c.4277G>C (p.Ser1426Thr)
c.4208G>C (p.Ser1403Thr)
c.4076G>C (p.Ser1359Thr)
c.3944G>C (p.Ser1315Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436809G=CA2360293880ASXL1c.4097G= (p.Ser1366=)
c.3914G= (p.Ser1305=)
n.6450G=
c.1870-1621G= (n.1870-1621G=)
c.4082G= (p.Ser1361=)
c.4094G= (p.Ser1365=)
c.4067G= (p.Ser1356=)
c.4013G= (p.Ser1338=)
c.3413G= (p.Ser1138=)
c.4361G= (p.Ser1454=)
c.4358G= (p.Ser1453=)
c.4277G= (p.Ser1426=)
c.4208G= (p.Ser1403=)
c.4076G= (p.Ser1359=)
c.3944G= (p.Ser1315=)
20g.32436809G>TCA408564436ASXL1c.4097G>T (p.Ser1366Ile)
c.3914G>T (p.Ser1305Ile)
n.6450G>T
c.1870-1621G>T (n.1870-1621G>T)
c.4082G>T (p.Ser1361Ile)
c.4094G>T (p.Ser1365Ile)
c.4067G>T (p.Ser1356Ile)
c.4013G>T (p.Ser1338Ile)
c.3413G>T (p.Ser1138Ile)
c.4361G>T (p.Ser1454Ile)
c.4358G>T (p.Ser1453Ile)
c.4277G>T (p.Ser1426Ile)
c.4208G>T (p.Ser1403Ile)
c.4076G>T (p.Ser1359Ile)
c.3944G>T (p.Ser1315Ile)
20g.32436810C>ACA408564437ASXL1c.4098C>A (p.Ser1366Arg)
c.3915C>A (p.Ser1305Arg)
n.6451C>A
c.1870-1620C>A (n.1870-1620C>A)
c.4083C>A (p.Ser1361Arg)
c.4095C>A (p.Ser1365Arg)
c.4068C>A (p.Ser1356Arg)
c.4014C>A (p.Ser1338Arg)
c.3414C>A (p.Ser1138Arg)
c.4362C>A (p.Ser1454Arg)
c.4359C>A (p.Ser1453Arg)
c.4278C>A (p.Ser1426Arg)
c.4209C>A (p.Ser1403Arg)
c.4077C>A (p.Ser1359Arg)
c.3945C>A (p.Ser1315Arg)
 dbSNP
20g.32436810C=CA2360293881ASXL1c.4098C= (p.Ser1366=)
c.3915C= (p.Ser1305=)
n.6451C=
c.1870-1620C= (n.1870-1620C=)
c.4083C= (p.Ser1361=)
c.4095C= (p.Ser1365=)
c.4068C= (p.Ser1356=)
c.4014C= (p.Ser1338=)
c.3414C= (p.Ser1138=)
c.4362C= (p.Ser1454=)
c.4359C= (p.Ser1453=)
c.4278C= (p.Ser1426=)
c.4209C= (p.Ser1403=)
c.4077C= (p.Ser1359=)
c.3945C= (p.Ser1315=)
20g.32436810C>GCA408564438ASXL1c.4098C>G (p.Ser1366Arg)
c.3915C>G (p.Ser1305Arg)
n.6451C>G
c.1870-1620C>G (n.1870-1620C>G)
c.4083C>G (p.Ser1361Arg)
c.4095C>G (p.Ser1365Arg)
c.4068C>G (p.Ser1356Arg)
c.4014C>G (p.Ser1338Arg)
c.3414C>G (p.Ser1138Arg)
c.4362C>G (p.Ser1454Arg)
c.4359C>G (p.Ser1453Arg)
c.4278C>G (p.Ser1426Arg)
c.4209C>G (p.Ser1403Arg)
c.4077C>G (p.Ser1359Arg)
c.3945C>G (p.Ser1315Arg)
 dbSNP
20g.32436810C>TCA9808963ASXL1c.4098C>T (p.Ser1366=)
c.3915C>T (p.Ser1305=)
n.6451C>T
c.1870-1620C>T (n.1870-1620C>T)
c.4083C>T (p.Ser1361=)
c.4095C>T (p.Ser1365=)
c.4068C>T (p.Ser1356=)
c.4014C>T (p.Ser1338=)
c.3414C>T (p.Ser1138=)
c.4362C>T (p.Ser1454=)
c.4359C>T (p.Ser1453=)
c.4278C>T (p.Ser1426=)
c.4209C>T (p.Ser1403=)
c.4077C>T (p.Ser1359=)
c.3945C>T (p.Ser1315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436811G>ACA9808964ASXL1c.4099G>A (p.Val1367Ile)
c.3916G>A (p.Val1306Ile)
n.6452G>A
c.1870-1619G>A (n.1870-1619G>A)
c.4084G>A (p.Val1362Ile)
c.4096G>A (p.Val1366Ile)
c.4069G>A (p.Val1357Ile)
c.4015G>A (p.Val1339Ile)
c.3415G>A (p.Val1139Ile)
c.4363G>A (p.Val1455Ile)
c.4360G>A (p.Val1454Ile)
c.4279G>A (p.Val1427Ile)
c.4210G>A (p.Val1404Ile)
c.4078G>A (p.Val1360Ile)
c.3946G>A (p.Val1316Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436811G>CCA408564439ASXL1c.4099G>C (p.Val1367Leu)
c.3916G>C (p.Val1306Leu)
n.6452G>C
c.1870-1619G>C (n.1870-1619G>C)
c.4084G>C (p.Val1362Leu)
c.4096G>C (p.Val1366Leu)
c.4069G>C (p.Val1357Leu)
c.4015G>C (p.Val1339Leu)
c.3415G>C (p.Val1139Leu)
c.4363G>C (p.Val1455Leu)
c.4360G>C (p.Val1454Leu)
c.4279G>C (p.Val1427Leu)
c.4210G>C (p.Val1404Leu)
c.4078G>C (p.Val1360Leu)
c.3946G>C (p.Val1316Leu)
 dbSNP
20g.32436811G=CA2360293882ASXL1c.4099G= (p.Val1367=)
c.3916G= (p.Val1306=)
n.6452G=
c.1870-1619G= (n.1870-1619G=)
c.4084G= (p.Val1362=)
c.4096G= (p.Val1366=)
c.4069G= (p.Val1357=)
c.4015G= (p.Val1339=)
c.3415G= (p.Val1139=)
c.4363G= (p.Val1455=)
c.4360G= (p.Val1454=)
c.4279G= (p.Val1427=)
c.4210G= (p.Val1404=)
c.4078G= (p.Val1360=)
c.3946G= (p.Val1316=)
20g.32436811G>TCA408564440ASXL1c.4099G>T (p.Val1367Phe)
c.3916G>T (p.Val1306Phe)
n.6452G>T
c.1870-1619G>T (n.1870-1619G>T)
c.4084G>T (p.Val1362Phe)
c.4096G>T (p.Val1366Phe)
c.4069G>T (p.Val1357Phe)
c.4015G>T (p.Val1339Phe)
c.3415G>T (p.Val1139Phe)
c.4363G>T (p.Val1455Phe)
c.4360G>T (p.Val1454Phe)
c.4279G>T (p.Val1427Phe)
c.4210G>T (p.Val1404Phe)
c.4078G>T (p.Val1360Phe)
c.3946G>T (p.Val1316Phe)
20g.32436812T>ACA408564441ASXL1c.4100T>A (p.Val1367Asp)
c.3917T>A (p.Val1306Asp)
n.6453T>A
c.1870-1618T>A (n.1870-1618T>A)
c.4085T>A (p.Val1362Asp)
c.4097T>A (p.Val1366Asp)
c.4070T>A (p.Val1357Asp)
c.4016T>A (p.Val1339Asp)
c.3416T>A (p.Val1139Asp)
c.4364T>A (p.Val1455Asp)
c.4361T>A (p.Val1454Asp)
c.4280T>A (p.Val1427Asp)
c.4211T>A (p.Val1404Asp)
c.4079T>A (p.Val1360Asp)
c.3947T>A (p.Val1316Asp)
 dbSNP
20g.32436812T>CCA408564442ASXL1c.4100T>C (p.Val1367Ala)
c.3917T>C (p.Val1306Ala)
n.6453T>C
c.1870-1618T>C (n.1870-1618T>C)
c.4085T>C (p.Val1362Ala)
c.4097T>C (p.Val1366Ala)
c.4070T>C (p.Val1357Ala)
c.4016T>C (p.Val1339Ala)
c.3416T>C (p.Val1139Ala)
c.4364T>C (p.Val1455Ala)
c.4361T>C (p.Val1454Ala)
c.4280T>C (p.Val1427Ala)
c.4211T>C (p.Val1404Ala)
c.4079T>C (p.Val1360Ala)
c.3947T>C (p.Val1316Ala)
 dbSNP
20g.32436812T>GCA408564443ASXL1c.4100T>G (p.Val1367Gly)
c.3917T>G (p.Val1306Gly)
n.6453T>G
c.1870-1618T>G (n.1870-1618T>G)
c.4085T>G (p.Val1362Gly)
c.4097T>G (p.Val1366Gly)
c.4070T>G (p.Val1357Gly)
c.4016T>G (p.Val1339Gly)
c.3416T>G (p.Val1139Gly)
c.4364T>G (p.Val1455Gly)
c.4361T>G (p.Val1454Gly)
c.4280T>G (p.Val1427Gly)
c.4211T>G (p.Val1404Gly)
c.4079T>G (p.Val1360Gly)
c.3947T>G (p.Val1316Gly)
20g.32436813delCA2554498263ASXL1c.4101del (p.Lys1368ArgfsTer?)
c.3918del (p.Lys1307ArgfsTer?)
n.6454del
c.1870-1617del (n.1870-1617del)
c.4086del (p.Lys1363ArgfsTer?)
c.4098del (p.Lys1367ArgfsTer?)
c.4071del (p.Lys1358ArgfsTer?)
c.4017del (p.Lys1340ArgfsTer?)
c.3417del (p.Lys1140ArgfsTer?)
c.4365del (p.Lys1456ArgfsTer?)
c.4362del (p.Lys1455ArgfsTer?)
c.4281del (p.Lys1428ArgfsTer?)
c.4212del (p.Lys1405ArgfsTer?)
c.4080del (p.Lys1361ArgfsTer?)
c.3948del (p.Lys1317ArgfsTer?)
 ClinVar
20g.32436813C>ACA510467674ASXL1c.4101C>A (p.Val1367=)
c.3918C>A (p.Val1306=)
n.6454C>A
c.1870-1617C>A (n.1870-1617C>A)
c.4086C>A (p.Val1362=)
c.4098C>A (p.Val1366=)
c.4071C>A (p.Val1357=)
c.4017C>A (p.Val1339=)
c.3417C>A (p.Val1139=)
c.4365C>A (p.Val1455=)
c.4362C>A (p.Val1454=)
c.4281C>A (p.Val1427=)
c.4212C>A (p.Val1404=)
c.4080C>A (p.Val1360=)
c.3948C>A (p.Val1316=)
20g.32436813C>GCA510467675ASXL1c.4101C>G (p.Val1367=)
c.3918C>G (p.Val1306=)
n.6454C>G
c.1870-1617C>G (n.1870-1617C>G)
c.4086C>G (p.Val1362=)
c.4098C>G (p.Val1366=)
c.4071C>G (p.Val1357=)
c.4017C>G (p.Val1339=)
c.3417C>G (p.Val1139=)
c.4365C>G (p.Val1455=)
c.4362C>G (p.Val1454=)
c.4281C>G (p.Val1427=)
c.4212C>G (p.Val1404=)
c.4080C>G (p.Val1360=)
c.3948C>G (p.Val1316=)
20g.32436813C>TCA510467676ASXL1c.4101C>T (p.Val1367=)
c.3918C>T (p.Val1306=)
n.6454C>T
c.1870-1617C>T (n.1870-1617C>T)
c.4086C>T (p.Val1362=)
c.4098C>T (p.Val1366=)
c.4071C>T (p.Val1357=)
c.4017C>T (p.Val1339=)
c.3417C>T (p.Val1139=)
c.4365C>T (p.Val1455=)
c.4362C>T (p.Val1454=)
c.4281C>T (p.Val1427=)
c.4212C>T (p.Val1404=)
c.4080C>T (p.Val1360=)
c.3948C>T (p.Val1316=)
20g.32436814A>CCA408564444ASXL1c.4102A>C (p.Lys1368Gln)
c.3919A>C (p.Lys1307Gln)
n.6455A>C
c.1870-1616A>C (n.1870-1616A>C)
c.4087A>C (p.Lys1363Gln)
c.4099A>C (p.Lys1367Gln)
c.4072A>C (p.Lys1358Gln)
c.4018A>C (p.Lys1340Gln)
c.3418A>C (p.Lys1140Gln)
c.4366A>C (p.Lys1456Gln)
c.4363A>C (p.Lys1455Gln)
c.4282A>C (p.Lys1428Gln)
c.4213A>C (p.Lys1405Gln)
c.4081A>C (p.Lys1361Gln)
c.3949A>C (p.Lys1317Gln)
20g.32436814A>GCA408564445ASXL1c.4102A>G (p.Lys1368Glu)
c.3919A>G (p.Lys1307Glu)
n.6455A>G
c.1870-1616A>G (n.1870-1616A>G)
c.4087A>G (p.Lys1363Glu)
c.4099A>G (p.Lys1367Glu)
c.4072A>G (p.Lys1358Glu)
c.4018A>G (p.Lys1340Glu)
c.3418A>G (p.Lys1140Glu)
c.4366A>G (p.Lys1456Glu)
c.4363A>G (p.Lys1455Glu)
c.4282A>G (p.Lys1428Glu)
c.4213A>G (p.Lys1405Glu)
c.4081A>G (p.Lys1361Glu)
c.3949A>G (p.Lys1317Glu)
20g.32436814A>TCA408564446ASXL1c.4102A>T (p.Lys1368Ter)
c.3919A>T (p.Lys1307Ter)
n.6455A>T
c.1870-1616A>T (n.1870-1616A>T)
c.4087A>T (p.Lys1363Ter)
c.4099A>T (p.Lys1367Ter)
c.4072A>T (p.Lys1358Ter)
c.4018A>T (p.Lys1340Ter)
c.3418A>T (p.Lys1140Ter)
c.4366A>T (p.Lys1456Ter)
c.4363A>T (p.Lys1455Ter)
c.4282A>T (p.Lys1428Ter)
c.4213A>T (p.Lys1405Ter)
c.4081A>T (p.Lys1361Ter)
c.3949A>T (p.Lys1317Ter)
20g.32436815A>CCA408564449ASXL1c.4103A>C (p.Lys1368Thr)
c.3920A>C (p.Lys1307Thr)
n.6456A>C
c.1870-1615A>C (n.1870-1615A>C)
c.4088A>C (p.Lys1363Thr)
c.4100A>C (p.Lys1367Thr)
c.4073A>C (p.Lys1358Thr)
c.4019A>C (p.Lys1340Thr)
c.3419A>C (p.Lys1140Thr)
c.4367A>C (p.Lys1456Thr)
c.4364A>C (p.Lys1455Thr)
c.4283A>C (p.Lys1428Thr)
c.4214A>C (p.Lys1405Thr)
c.4082A>C (p.Lys1361Thr)
c.3950A>C (p.Lys1317Thr)
20g.32436815A>GCA408564448ASXL1c.4103A>G (p.Lys1368Arg)
c.3920A>G (p.Lys1307Arg)
n.6456A>G
c.1870-1615A>G (n.1870-1615A>G)
c.4088A>G (p.Lys1363Arg)
c.4100A>G (p.Lys1367Arg)
c.4073A>G (p.Lys1358Arg)
c.4019A>G (p.Lys1340Arg)
c.3419A>G (p.Lys1140Arg)
c.4367A>G (p.Lys1456Arg)
c.4364A>G (p.Lys1455Arg)
c.4283A>G (p.Lys1428Arg)
c.4214A>G (p.Lys1405Arg)
c.4082A>G (p.Lys1361Arg)
c.3950A>G (p.Lys1317Arg)
 gnomAD v4
20g.32436815A>TCA408564447ASXL1c.4103A>T (p.Lys1368Met)
c.3920A>T (p.Lys1307Met)
n.6456A>T
c.1870-1615A>T (n.1870-1615A>T)
c.4088A>T (p.Lys1363Met)
c.4100A>T (p.Lys1367Met)
c.4073A>T (p.Lys1358Met)
c.4019A>T (p.Lys1340Met)
c.3419A>T (p.Lys1140Met)
c.4367A>T (p.Lys1456Met)
c.4364A>T (p.Lys1455Met)
c.4283A>T (p.Lys1428Met)
c.4214A>T (p.Lys1405Met)
c.4082A>T (p.Lys1361Met)
c.3950A>T (p.Lys1317Met)
20g.32436816G>ACA510467678ASXL1c.4104G>A (p.Lys1368=)
c.3921G>A (p.Lys1307=)
n.6457G>A
c.1870-1614G>A (n.1870-1614G>A)
c.4089G>A (p.Lys1363=)
c.4101G>A (p.Lys1367=)
c.4074G>A (p.Lys1358=)
c.4020G>A (p.Lys1340=)
c.3420G>A (p.Lys1140=)
c.4368G>A (p.Lys1456=)
c.4365G>A (p.Lys1455=)
c.4284G>A (p.Lys1428=)
c.4215G>A (p.Lys1405=)
c.4083G>A (p.Lys1361=)
c.3951G>A (p.Lys1317=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436816G>CCA408564450ASXL1c.4104G>C (p.Lys1368Asn)
c.3921G>C (p.Lys1307Asn)
n.6457G>C
c.1870-1614G>C (n.1870-1614G>C)
c.4089G>C (p.Lys1363Asn)
c.4101G>C (p.Lys1367Asn)
c.4074G>C (p.Lys1358Asn)
c.4020G>C (p.Lys1340Asn)
c.3420G>C (p.Lys1140Asn)
c.4368G>C (p.Lys1456Asn)
c.4365G>C (p.Lys1455Asn)
c.4284G>C (p.Lys1428Asn)
c.4215G>C (p.Lys1405Asn)
c.4083G>C (p.Lys1361Asn)
c.3951G>C (p.Lys1317Asn)
20g.32436816G=CA2360293883ASXL1c.4104G= (p.Lys1368=)
c.3921G= (p.Lys1307=)
n.6457G=
c.1870-1614G= (n.1870-1614G=)
c.4089G= (p.Lys1363=)
c.4101G= (p.Lys1367=)
c.4074G= (p.Lys1358=)
c.4020G= (p.Lys1340=)
c.3420G= (p.Lys1140=)
c.4368G= (p.Lys1456=)
c.4365G= (p.Lys1455=)
c.4284G= (p.Lys1428=)
c.4215G= (p.Lys1405=)
c.4083G= (p.Lys1361=)
c.3951G= (p.Lys1317=)
20g.32436816G>TCA408564451ASXL1c.4104G>T (p.Lys1368Asn)
c.3921G>T (p.Lys1307Asn)
n.6457G>T
c.1870-1614G>T (n.1870-1614G>T)
c.4089G>T (p.Lys1363Asn)
c.4101G>T (p.Lys1367Asn)
c.4074G>T (p.Lys1358Asn)
c.4020G>T (p.Lys1340Asn)
c.3420G>T (p.Lys1140Asn)
c.4368G>T (p.Lys1456Asn)
c.4365G>T (p.Lys1455Asn)
c.4284G>T (p.Lys1428Asn)
c.4215G>T (p.Lys1405Asn)
c.4083G>T (p.Lys1361Asn)
c.3951G>T (p.Lys1317Asn)
20g.32436817A>CCA408564452ASXL1c.4105A>C (p.Asn1369His)
c.3922A>C (p.Asn1308His)
n.6458A>C
c.1870-1613A>C (n.1870-1613A>C)
c.4090A>C (p.Asn1364His)
c.4102A>C (p.Asn1368His)
c.4075A>C (p.Asn1359His)
c.4021A>C (p.Asn1341His)
c.3421A>C (p.Asn1141His)
c.4369A>C (p.Asn1457His)
c.4366A>C (p.Asn1456His)
c.4285A>C (p.Asn1429His)
c.4216A>C (p.Asn1406His)
c.4084A>C (p.Asn1362His)
c.3952A>C (p.Asn1318His)
 gnomAD v4
20g.32436817A>GCA408564453ASXL1c.4105A>G (p.Asn1369Asp)
c.3922A>G (p.Asn1308Asp)
n.6458A>G
c.1870-1613A>G (n.1870-1613A>G)
c.4090A>G (p.Asn1364Asp)
c.4102A>G (p.Asn1368Asp)
c.4075A>G (p.Asn1359Asp)
c.4021A>G (p.Asn1341Asp)
c.3421A>G (p.Asn1141Asp)
c.4369A>G (p.Asn1457Asp)
c.4366A>G (p.Asn1456Asp)
c.4285A>G (p.Asn1429Asp)
c.4216A>G (p.Asn1406Asp)
c.4084A>G (p.Asn1362Asp)
c.3952A>G (p.Asn1318Asp)
 gnomAD v4
20g.32436817A>TCA408564454ASXL1c.4105A>T (p.Asn1369Tyr)
c.3922A>T (p.Asn1308Tyr)
n.6458A>T
c.1870-1613A>T (n.1870-1613A>T)
c.4090A>T (p.Asn1364Tyr)
c.4102A>T (p.Asn1368Tyr)
c.4075A>T (p.Asn1359Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3421A>T (p.Asn1141Tyr)
c.4369A>T (p.Asn1457Tyr)
c.4366A>T (p.Asn1456Tyr)
c.4285A>T (p.Asn1429Tyr)
c.4216A>T (p.Asn1406Tyr)
c.4084A>T (p.Asn1362Tyr)
c.3952A>T (p.Asn1318Tyr)
20g.32436818A>CCA408564455ASXL1c.4106A>C (p.Asn1369Thr)
c.3923A>C (p.Asn1308Thr)
n.6459A>C
c.1870-1612A>C (n.1870-1612A>C)
c.4091A>C (p.Asn1364Thr)
c.4103A>C (p.Asn1368Thr)
c.4076A>C (p.Asn1359Thr)
c.4022A>C (p.Asn1341Thr)
c.3422A>C (p.Asn1141Thr)
c.4370A>C (p.Asn1457Thr)
c.4367A>C (p.Asn1456Thr)
c.4286A>C (p.Asn1429Thr)
c.4217A>C (p.Asn1406Thr)
c.4085A>C (p.Asn1362Thr)
c.3953A>C (p.Asn1318Thr)
 gnomAD v4
20g.32436818A>GCA408564456ASXL1c.4106A>G (p.Asn1369Ser)
c.3923A>G (p.Asn1308Ser)
n.6459A>G
c.1870-1612A>G (n.1870-1612A>G)
c.4091A>G (p.Asn1364Ser)
c.4103A>G (p.Asn1368Ser)
c.4076A>G (p.Asn1359Ser)
c.4022A>G (p.Asn1341Ser)
c.3422A>G (p.Asn1141Ser)
c.4370A>G (p.Asn1457Ser)
c.4367A>G (p.Asn1456Ser)
c.4286A>G (p.Asn1429Ser)
c.4217A>G (p.Asn1406Ser)
c.4085A>G (p.Asn1362Ser)
c.3953A>G (p.Asn1318Ser)
20g.32436818A>TCA408564457ASXL1c.4106A>T (p.Asn1369Ile)
c.3923A>T (p.Asn1308Ile)
n.6459A>T
c.1870-1612A>T (n.1870-1612A>T)
c.4091A>T (p.Asn1364Ile)
c.4103A>T (p.Asn1368Ile)
c.4076A>T (p.Asn1359Ile)
c.4022A>T (p.Asn1341Ile)
c.3422A>T (p.Asn1141Ile)
c.4370A>T (p.Asn1457Ile)
c.4367A>T (p.Asn1456Ile)
c.4286A>T (p.Asn1429Ile)
c.4217A>T (p.Asn1406Ile)
c.4085A>T (p.Asn1362Ile)
c.3953A>T (p.Asn1318Ile)
20g.32436819T>ACA408564458ASXL1c.4107T>A (p.Asn1369Lys)
c.3924T>A (p.Asn1308Lys)
n.6460T>A
c.1870-1611T>A (n.1870-1611T>A)
c.4092T>A (p.Asn1364Lys)
c.4104T>A (p.Asn1368Lys)
c.4077T>A (p.Asn1359Lys)
c.4023T>A (p.Asn1341Lys)
c.3423T>A (p.Asn1141Lys)
c.4371T>A (p.Asn1457Lys)
c.4368T>A (p.Asn1456Lys)
c.4287T>A (p.Asn1429Lys)
c.4218T>A (p.Asn1406Lys)
c.4086T>A (p.Asn1362Lys)
c.3954T>A (p.Asn1318Lys)
20g.32436819T>CCA510467679ASXL1c.4107T>C (p.Asn1369=)
c.3924T>C (p.Asn1308=)
n.6460T>C
c.1870-1611T>C (n.1870-1611T>C)
c.4092T>C (p.Asn1364=)
c.4104T>C (p.Asn1368=)
c.4077T>C (p.Asn1359=)
c.4023T>C (p.Asn1341=)
c.3423T>C (p.Asn1141=)
c.4371T>C (p.Asn1457=)
c.4368T>C (p.Asn1456=)
c.4287T>C (p.Asn1429=)
c.4218T>C (p.Asn1406=)
c.4086T>C (p.Asn1362=)
c.3954T>C (p.Asn1318=)
20g.32436819T>GCA408564459ASXL1c.4107T>G (p.Asn1369Lys)
c.3924T>G (p.Asn1308Lys)
n.6460T>G
c.1870-1611T>G (n.1870-1611T>G)
c.4092T>G (p.Asn1364Lys)
c.4104T>G (p.Asn1368Lys)
c.4077T>G (p.Asn1359Lys)
c.4023T>G (p.Asn1341Lys)
c.3423T>G (p.Asn1141Lys)
c.4371T>G (p.Asn1457Lys)
c.4368T>G (p.Asn1456Lys)
c.4287T>G (p.Asn1429Lys)
c.4218T>G (p.Asn1406Lys)
c.4086T>G (p.Asn1362Lys)
c.3954T>G (p.Asn1318Lys)
 gnomAD v4
20g.32436820G>ACA408564460ASXL1c.4108G>A (p.Glu1370Lys)
c.3925G>A (p.Glu1309Lys)
n.6461G>A
c.1870-1610G>A (n.1870-1610G>A)
c.4093G>A (p.Glu1365Lys)
c.4105G>A (p.Glu1369Lys)
c.4078G>A (p.Glu1360Lys)
c.4024G>A (p.Glu1342Lys)
c.3424G>A (p.Glu1142Lys)
c.4372G>A (p.Glu1458Lys)
c.4369G>A (p.Glu1457Lys)
c.4288G>A (p.Glu1430Lys)
c.4219G>A (p.Glu1407Lys)
c.4087G>A (p.Glu1363Lys)
c.3955G>A (p.Glu1319Lys)
 gnomAD v4
20g.32436820G>CCA408564461ASXL1c.4108G>C (p.Glu1370Gln)
c.3925G>C (p.Glu1309Gln)
n.6461G>C
c.1870-1610G>C (n.1870-1610G>C)
c.4093G>C (p.Glu1365Gln)
c.4105G>C (p.Glu1369Gln)
c.4078G>C (p.Glu1360Gln)
c.4024G>C (p.Glu1342Gln)
c.3424G>C (p.Glu1142Gln)
c.4372G>C (p.Glu1458Gln)
c.4369G>C (p.Glu1457Gln)
c.4288G>C (p.Glu1430Gln)
c.4219G>C (p.Glu1407Gln)
c.4087G>C (p.Glu1363Gln)
c.3955G>C (p.Glu1319Gln)
20g.32436820G>TCA408564462ASXL1c.4108G>T (p.Glu1370Ter)
c.3925G>T (p.Glu1309Ter)
n.6461G>T
c.1870-1610G>T (n.1870-1610G>T)
c.4093G>T (p.Glu1365Ter)
c.4105G>T (p.Glu1369Ter)
c.4078G>T (p.Glu1360Ter)
c.4024G>T (p.Glu1342Ter)
c.3424G>T (p.Glu1142Ter)
c.4372G>T (p.Glu1458Ter)
c.4369G>T (p.Glu1457Ter)
c.4288G>T (p.Glu1430Ter)
c.4219G>T (p.Glu1407Ter)
c.4087G>T (p.Glu1363Ter)
c.3955G>T (p.Glu1319Ter)
20g.32436820_32436823delinsGAGACA2360293884ASXL1c.4108_4111delinsGAGA (p.Glu1370=)
c.3925_3928delinsGAGA (p.Glu1309=)
n.6461_6464delinsGAGA
c.1870-1610_1870-1607delinsGAGA (n.1870-1610_1870-1607delinsGAGA)
c.4093_4096delinsGAGA (p.Glu1365=)
c.4105_4108delinsGAGA (p.Glu1369=)
c.4078_4081delinsGAGA (p.Glu1360=)
c.4024_4027delinsGAGA (p.Glu1342=)
c.3424_3427delinsGAGA (p.Glu1142=)
c.4372_4375delinsGAGA (p.Glu1458=)
c.4369_4372delinsGAGA (p.Glu1457=)
c.4288_4291delinsGAGA (p.Glu1430=)
c.4219_4222delinsGAGA (p.Glu1407=)
c.4087_4090delinsGAGA (p.Glu1363=)
c.3955_3958delinsGAGA (p.Glu1319=)
20g.32436821A>CCA408564465ASXL1c.4109A>C (p.Glu1370Ala)
c.3926A>C (p.Glu1309Ala)
n.6462A>C
c.1870-1609A>C (n.1870-1609A>C)
c.4094A>C (p.Glu1365Ala)
c.4106A>C (p.Glu1369Ala)
c.4079A>C (p.Glu1360Ala)
c.4025A>C (p.Glu1342Ala)
c.3425A>C (p.Glu1142Ala)
c.4373A>C (p.Glu1458Ala)
c.4370A>C (p.Glu1457Ala)
c.4289A>C (p.Glu1430Ala)
c.4220A>C (p.Glu1407Ala)
c.4088A>C (p.Glu1363Ala)
c.3956A>C (p.Glu1319Ala)
20g.32436821A>GCA408564463ASXL1c.4109A>G (p.Glu1370Gly)
c.3926A>G (p.Glu1309Gly)
n.6462A>G
c.1870-1609A>G (n.1870-1609A>G)
c.4094A>G (p.Glu1365Gly)
c.4106A>G (p.Glu1369Gly)
c.4079A>G (p.Glu1360Gly)
c.4025A>G (p.Glu1342Gly)
c.3425A>G (p.Glu1142Gly)
c.4373A>G (p.Glu1458Gly)
c.4370A>G (p.Glu1457Gly)
c.4289A>G (p.Glu1430Gly)
c.4220A>G (p.Glu1407Gly)
c.4088A>G (p.Glu1363Gly)
c.3956A>G (p.Glu1319Gly)
20g.32436821A>TCA408564464ASXL1c.4109A>T (p.Glu1370Val)
c.3926A>T (p.Glu1309Val)
n.6462A>T
c.1870-1609A>T (n.1870-1609A>T)
c.4094A>T (p.Glu1365Val)
c.4106A>T (p.Glu1369Val)
c.4079A>T (p.Glu1360Val)
c.4025A>T (p.Glu1342Val)
c.3425A>T (p.Glu1142Val)
c.4373A>T (p.Glu1458Val)
c.4370A>T (p.Glu1457Val)
c.4289A>T (p.Glu1430Val)
c.4220A>T (p.Glu1407Val)
c.4088A>T (p.Glu1363Val)
c.3956A>T (p.Glu1319Val)
20g.32436824_32436826delCA9808965ASXL1c.4112_4114del (p.Lys1371del)
c.3929_3931del (p.Lys1310del)
n.6465_6467del
c.1870-1606_1870-1604del (n.1870-1606_1870-1604del)
c.4097_4099del (p.Lys1366del)
c.4109_4111del (p.Lys1370del)
c.4082_4084del (p.Lys1361del)
c.4028_4030del (p.Lys1343del)
c.3428_3430del (p.Lys1143del)
c.4376_4378del (p.Lys1459del)
c.4373_4375del (p.Lys1458del)
c.4292_4294del (p.Lys1431del)
c.4223_4225del (p.Lys1408del)
c.4091_4093del (p.Lys1364del)
c.3959_3961del (p.Lys1320del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436822G>ACA510467682ASXL1c.4110G>A (p.Glu1370=)
c.3927G>A (p.Glu1309=)
n.6463G>A
c.1870-1608G>A (n.1870-1608G>A)
c.4095G>A (p.Glu1365=)
c.4107G>A (p.Glu1369=)
c.4080G>A (p.Glu1360=)
c.4026G>A (p.Glu1342=)
c.3426G>A (p.Glu1142=)
c.4374G>A (p.Glu1458=)
c.4371G>A (p.Glu1457=)
c.4290G>A (p.Glu1430=)
c.4221G>A (p.Glu1407=)
c.4089G>A (p.Glu1363=)
c.3957G>A (p.Glu1319=)
 dbSNP gnomAD v4
20g.32436822G>CCA408564466ASXL1c.4110G>C (p.Glu1370Asp)
c.3927G>C (p.Glu1309Asp)
n.6463G>C
c.1870-1608G>C (n.1870-1608G>C)
c.4095G>C (p.Glu1365Asp)
c.4107G>C (p.Glu1369Asp)
c.4080G>C (p.Glu1360Asp)
c.4026G>C (p.Glu1342Asp)
c.3426G>C (p.Glu1142Asp)
c.4374G>C (p.Glu1458Asp)
c.4371G>C (p.Glu1457Asp)
c.4290G>C (p.Glu1430Asp)
c.4221G>C (p.Glu1407Asp)
c.4089G>C (p.Glu1363Asp)
c.3957G>C (p.Glu1319Asp)
 dbSNP
20g.32436822G>TCA408564467ASXL1c.4110G>T (p.Glu1370Asp)
c.3927G>T (p.Glu1309Asp)
n.6463G>T
c.1870-1608G>T (n.1870-1608G>T)
c.4095G>T (p.Glu1365Asp)
c.4107G>T (p.Glu1369Asp)
c.4080G>T (p.Glu1360Asp)
c.4026G>T (p.Glu1342Asp)
c.3426G>T (p.Glu1142Asp)
c.4374G>T (p.Glu1458Asp)
c.4371G>T (p.Glu1457Asp)
c.4290G>T (p.Glu1430Asp)
c.4221G>T (p.Glu1407Asp)
c.4089G>T (p.Glu1363Asp)
c.3957G>T (p.Glu1319Asp)
20g.32436823A>CCA408564468ASXL1c.4111A>C (p.Lys1371Gln)
c.3928A>C (p.Lys1310Gln)
n.6464A>C
c.1870-1607A>C (n.1870-1607A>C)
c.4096A>C (p.Lys1366Gln)
c.4108A>C (p.Lys1370Gln)
c.4081A>C (p.Lys1361Gln)
c.4027A>C (p.Lys1343Gln)
c.3427A>C (p.Lys1143Gln)
c.4375A>C (p.Lys1459Gln)
c.4372A>C (p.Lys1458Gln)
c.4291A>C (p.Lys1431Gln)
c.4222A>C (p.Lys1408Gln)
c.4090A>C (p.Lys1364Gln)
c.3958A>C (p.Lys1320Gln)
20g.32436823A>GCA408564469ASXL1c.4111A>G (p.Lys1371Glu)
c.3928A>G (p.Lys1310Glu)
n.6464A>G
c.1870-1607A>G (n.1870-1607A>G)
c.4096A>G (p.Lys1366Glu)
c.4108A>G (p.Lys1370Glu)
c.4081A>G (p.Lys1361Glu)
c.4027A>G (p.Lys1343Glu)
c.3427A>G (p.Lys1143Glu)
c.4375A>G (p.Lys1459Glu)
c.4372A>G (p.Lys1458Glu)
c.4291A>G (p.Lys1431Glu)
c.4222A>G (p.Lys1408Glu)
c.4090A>G (p.Lys1364Glu)
c.3958A>G (p.Lys1320Glu)
20g.32436823A>TCA408564470ASXL1c.4111A>T (p.Lys1371Ter)
c.3928A>T (p.Lys1310Ter)
n.6464A>T
c.1870-1607A>T (n.1870-1607A>T)
c.4096A>T (p.Lys1366Ter)
c.4108A>T (p.Lys1370Ter)
c.4081A>T (p.Lys1361Ter)
c.4027A>T (p.Lys1343Ter)
c.3427A>T (p.Lys1143Ter)
c.4375A>T (p.Lys1459Ter)
c.4372A>T (p.Lys1458Ter)
c.4291A>T (p.Lys1431Ter)
c.4222A>T (p.Lys1408Ter)
c.4090A>T (p.Lys1364Ter)
c.3958A>T (p.Lys1320Ter)
20g.32436824A=CA2360293885ASXL1c.4112A= (p.Lys1371=)
c.3929A= (p.Lys1310=)
n.6465A=
c.1870-1606A= (n.1870-1606A=)
c.4097A= (p.Lys1366=)
c.4109A= (p.Lys1370=)
c.4082A= (p.Lys1361=)
c.4028A= (p.Lys1343=)
c.3428A= (p.Lys1143=)
c.4376A= (p.Lys1459=)
c.4373A= (p.Lys1458=)
c.4292A= (p.Lys1431=)
c.4223A= (p.Lys1408=)
c.4091A= (p.Lys1364=)
c.3959A= (p.Lys1320=)
20g.32436824A>CCA408564471ASXL1c.4112A>C (p.Lys1371Thr)
c.3929A>C (p.Lys1310Thr)
n.6465A>C
c.1870-1606A>C (n.1870-1606A>C)
c.4097A>C (p.Lys1366Thr)
c.4109A>C (p.Lys1370Thr)
c.4082A>C (p.Lys1361Thr)
c.4028A>C (p.Lys1343Thr)
c.3428A>C (p.Lys1143Thr)
c.4376A>C (p.Lys1459Thr)
c.4373A>C (p.Lys1458Thr)
c.4292A>C (p.Lys1431Thr)
c.4223A>C (p.Lys1408Thr)
c.4091A>C (p.Lys1364Thr)
c.3959A>C (p.Lys1320Thr)
20g.32436824A>GCA9808966ASXL1c.4112A>G (p.Lys1371Arg)
c.3929A>G (p.Lys1310Arg)
n.6465A>G
c.1870-1606A>G (n.1870-1606A>G)
c.4097A>G (p.Lys1366Arg)
c.4109A>G (p.Lys1370Arg)
c.4082A>G (p.Lys1361Arg)
c.4028A>G (p.Lys1343Arg)
c.3428A>G (p.Lys1143Arg)
c.4376A>G (p.Lys1459Arg)
c.4373A>G (p.Lys1458Arg)
c.4292A>G (p.Lys1431Arg)
c.4223A>G (p.Lys1408Arg)
c.4091A>G (p.Lys1364Arg)
c.3959A>G (p.Lys1320Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436824A>TCA408564472ASXL1c.4112A>T (p.Lys1371Met)
c.3929A>T (p.Lys1310Met)
n.6465A>T
c.1870-1606A>T (n.1870-1606A>T)
c.4097A>T (p.Lys1366Met)
c.4109A>T (p.Lys1370Met)
c.4082A>T (p.Lys1361Met)
c.4028A>T (p.Lys1343Met)
c.3428A>T (p.Lys1143Met)
c.4376A>T (p.Lys1459Met)
c.4373A>T (p.Lys1458Met)
c.4292A>T (p.Lys1431Met)
c.4223A>T (p.Lys1408Met)
c.4091A>T (p.Lys1364Met)
c.3959A>T (p.Lys1320Met)
20g.32436825G>ACA510467686ASXL1c.4113G>A (p.Lys1371=)
c.3930G>A (p.Lys1310=)
n.6466G>A
c.1870-1605G>A (n.1870-1605G>A)
c.4098G>A (p.Lys1366=)
c.4110G>A (p.Lys1370=)
c.4083G>A (p.Lys1361=)
c.4029G>A (p.Lys1343=)
c.3429G>A (p.Lys1143=)
c.4377G>A (p.Lys1459=)
c.4374G>A (p.Lys1458=)
c.4293G>A (p.Lys1431=)
c.4224G>A (p.Lys1408=)
c.4092G>A (p.Lys1364=)
c.3960G>A (p.Lys1320=)
20g.32436825G>CCA408564473ASXL1c.4113G>C (p.Lys1371Asn)
c.3930G>C (p.Lys1310Asn)
n.6466G>C
c.1870-1605G>C (n.1870-1605G>C)
c.4098G>C (p.Lys1366Asn)
c.4110G>C (p.Lys1370Asn)
c.4083G>C (p.Lys1361Asn)
c.4029G>C (p.Lys1343Asn)
c.3429G>C (p.Lys1143Asn)
c.4377G>C (p.Lys1459Asn)
c.4374G>C (p.Lys1458Asn)
c.4293G>C (p.Lys1431Asn)
c.4224G>C (p.Lys1408Asn)
c.4092G>C (p.Lys1364Asn)
c.3960G>C (p.Lys1320Asn)
 dbSNP
20g.32436825G>TCA408564474ASXL1c.4113G>T (p.Lys1371Asn)
c.3930G>T (p.Lys1310Asn)
n.6466G>T
c.1870-1605G>T (n.1870-1605G>T)
c.4098G>T (p.Lys1366Asn)
c.4110G>T (p.Lys1370Asn)
c.4083G>T (p.Lys1361Asn)
c.4029G>T (p.Lys1343Asn)
c.3429G>T (p.Lys1143Asn)
c.4377G>T (p.Lys1459Asn)
c.4374G>T (p.Lys1458Asn)
c.4293G>T (p.Lys1431Asn)
c.4224G>T (p.Lys1408Asn)
c.4092G>T (p.Lys1364Asn)
c.3960G>T (p.Lys1320Asn)
20g.32436826A=CA2360293886ASXL1c.4114A= (p.Thr1372=)
c.3931A= (p.Thr1311=)
n.6467A=
c.1870-1604A= (n.1870-1604A=)
c.4099A= (p.Thr1367=)
c.4111A= (p.Thr1371=)
c.4084A= (p.Thr1362=)
c.4030A= (p.Thr1344=)
c.3430A= (p.Thr1144=)
c.4378A= (p.Thr1460=)
c.4375A= (p.Thr1459=)
c.4294A= (p.Thr1432=)
c.4225A= (p.Thr1409=)
c.4093A= (p.Thr1365=)
c.3961A= (p.Thr1321=)
20g.32436826A>CCA408564477ASXL1c.4114A>C (p.Thr1372Pro)
c.3931A>C (p.Thr1311Pro)
n.6467A>C
c.1870-1604A>C (n.1870-1604A>C)
c.4099A>C (p.Thr1367Pro)
c.4111A>C (p.Thr1371Pro)
c.4084A>C (p.Thr1362Pro)
c.4030A>C (p.Thr1344Pro)
c.3430A>C (p.Thr1144Pro)
c.4378A>C (p.Thr1460Pro)
c.4375A>C (p.Thr1459Pro)
c.4294A>C (p.Thr1432Pro)
c.4225A>C (p.Thr1409Pro)
c.4093A>C (p.Thr1365Pro)
c.3961A>C (p.Thr1321Pro)
20g.32436826A>GCA408564476ASXL1c.4114A>G (p.Thr1372Ala)
c.3931A>G (p.Thr1311Ala)
n.6467A>G
c.1870-1604A>G (n.1870-1604A>G)
c.4099A>G (p.Thr1367Ala)
c.4111A>G (p.Thr1371Ala)
c.4084A>G (p.Thr1362Ala)
c.4030A>G (p.Thr1344Ala)
c.3430A>G (p.Thr1144Ala)
c.4378A>G (p.Thr1460Ala)
c.4375A>G (p.Thr1459Ala)
c.4294A>G (p.Thr1432Ala)
c.4225A>G (p.Thr1409Ala)
c.4093A>G (p.Thr1365Ala)
c.3961A>G (p.Thr1321Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32436826A>TCA408564475ASXL1c.4114A>T (p.Thr1372Ser)
c.3931A>T (p.Thr1311Ser)
n.6467A>T
c.1870-1604A>T (n.1870-1604A>T)
c.4099A>T (p.Thr1367Ser)
c.4111A>T (p.Thr1371Ser)
c.4084A>T (p.Thr1362Ser)
c.4030A>T (p.Thr1344Ser)
c.3430A>T (p.Thr1144Ser)
c.4378A>T (p.Thr1460Ser)
c.4375A>T (p.Thr1459Ser)
c.4294A>T (p.Thr1432Ser)
c.4225A>T (p.Thr1409Ser)
c.4093A>T (p.Thr1365Ser)
c.3961A>T (p.Thr1321Ser)
20g.32436827C>ACA408564478ASXL1c.4115C>A (p.Thr1372Asn)
c.3932C>A (p.Thr1311Asn)
n.6468C>A
c.1870-1603C>A (n.1870-1603C>A)
c.4100C>A (p.Thr1367Asn)
c.4112C>A (p.Thr1371Asn)
c.4085C>A (p.Thr1362Asn)
c.4031C>A (p.Thr1344Asn)
c.3431C>A (p.Thr1144Asn)
c.4379C>A (p.Thr1460Asn)
c.4376C>A (p.Thr1459Asn)
c.4295C>A (p.Thr1432Asn)
c.4226C>A (p.Thr1409Asn)
c.4094C>A (p.Thr1365Asn)
c.3962C>A (p.Thr1321Asn)
20g.32436827C=CA2360293887ASXL1c.4115C= (p.Thr1372=)
c.3932C= (p.Thr1311=)
n.6468C=
c.1870-1603C= (n.1870-1603C=)
c.4100C= (p.Thr1367=)
c.4112C= (p.Thr1371=)
c.4085C= (p.Thr1362=)
c.4031C= (p.Thr1344=)
c.3431C= (p.Thr1144=)
c.4379C= (p.Thr1460=)
c.4376C= (p.Thr1459=)
c.4295C= (p.Thr1432=)
c.4226C= (p.Thr1409=)
c.4094C= (p.Thr1365=)
c.3962C= (p.Thr1321=)
20g.32436827C>GCA9808967ASXL1c.4115C>G (p.Thr1372Ser)
c.3932C>G (p.Thr1311Ser)
n.6468C>G
c.1870-1603C>G (n.1870-1603C>G)
c.4100C>G (p.Thr1367Ser)
c.4112C>G (p.Thr1371Ser)
c.4085C>G (p.Thr1362Ser)
c.4031C>G (p.Thr1344Ser)
c.3431C>G (p.Thr1144Ser)
c.4379C>G (p.Thr1460Ser)
c.4376C>G (p.Thr1459Ser)
c.4295C>G (p.Thr1432Ser)
c.4226C>G (p.Thr1409Ser)
c.4094C>G (p.Thr1365Ser)
c.3962C>G (p.Thr1321Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436827C>TCA408564479ASXL1c.4115C>T (p.Thr1372Ile)
c.3932C>T (p.Thr1311Ile)
n.6468C>T
c.1870-1603C>T (n.1870-1603C>T)
c.4100C>T (p.Thr1367Ile)
c.4112C>T (p.Thr1371Ile)
c.4085C>T (p.Thr1362Ile)
c.4031C>T (p.Thr1344Ile)
c.3431C>T (p.Thr1144Ile)
c.4379C>T (p.Thr1460Ile)
c.4376C>T (p.Thr1459Ile)
c.4295C>T (p.Thr1432Ile)
c.4226C>T (p.Thr1409Ile)
c.4094C>T (p.Thr1365Ile)
c.3962C>T (p.Thr1321Ile)
20g.32436830_32436846delCA2499225724ASXL1c.4118_4134del (p.Phe1373Ter)
c.3935_3951del (p.Phe1312Ter)
n.6471_6487del
c.1870-1600_1870-1584del (n.1870-1600_1870-1584del)
c.4103_4119del (p.Phe1368Ter)
c.4115_4131del (p.Phe1372Ter)
c.4088_4104del (p.Phe1363Ter)
c.4034_4050del (p.Phe1345Ter)
c.3434_3450del (p.Phe1145Ter)
c.4382_4398del (p.Phe1461Ter)
c.4379_4395del (p.Phe1460Ter)
c.4298_4314del (p.Phe1433Ter)
c.4229_4245del (p.Phe1410Ter)
c.4097_4113del (p.Phe1366Ter)
c.3965_3981del (p.Phe1322Ter)
 ClinVar dbSNP

Number of alleles fetched