Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33740509_33743845delinsAGAAGCCTAGGTGTACCA2740091793ASXL3c.3042+66_4000delinsAGAAGCCTAGGTGTAC
c.3039+66_3997delinsAGAAGCCTAGGTGTAC
c.2919+66_3877delinsAGAAGCCTAGGTGTAC
c.3015+66_3973delinsAGAAGCCTAGGTGTAC
c.2961+66_3919delinsAGAAGCCTAGGTGTAC
c.2922+66_3880delinsAGAAGCCTAGGTGTAC
c.2871+66_3829delinsAGAAGCCTAGGTGTAC
ClinVar
18g.33743797T>ACA402188993ASXL3c.3952T>A (p.Ser1318Thr)
c.3949T>A (p.Ser1317Thr)
c.3829T>A (p.Ser1277Thr)
c.3925T>A (p.Ser1309Thr)
c.3871T>A (p.Ser1291Thr)
c.3832T>A (p.Ser1278Thr)
c.3781T>A (p.Ser1261Thr)
c.913T>A (p.Ser305Thr)
18g.33743797T>CCA402188996ASXL3c.3952T>C (p.Ser1318Pro)
c.3949T>C (p.Ser1317Pro)
c.3829T>C (p.Ser1277Pro)
c.3925T>C (p.Ser1309Pro)
c.3871T>C (p.Ser1291Pro)
c.3832T>C (p.Ser1278Pro)
c.3781T>C (p.Ser1261Pro)
c.913T>C (p.Ser305Pro)
gnomAD v4
18g.33743797T>GCA402188999ASXL3c.3952T>G (p.Ser1318Ala)
c.3949T>G (p.Ser1317Ala)
c.3829T>G (p.Ser1277Ala)
c.3925T>G (p.Ser1309Ala)
c.3871T>G (p.Ser1291Ala)
c.3832T>G (p.Ser1278Ala)
c.3781T>G (p.Ser1261Ala)
c.913T>G (p.Ser305Ala)
18g.33743798C>ACA402189007ASXL3c.3953C>A (p.Ser1318Tyr)
c.3950C>A (p.Ser1317Tyr)
c.3830C>A (p.Ser1277Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3833C>A (p.Ser1278Tyr)
c.3782C>A (p.Ser1261Tyr)
c.914C>A (p.Ser305Tyr)
18g.33743798C>GCA402189005ASXL3c.3953C>G (p.Ser1318Cys)
c.3950C>G (p.Ser1317Cys)
c.3830C>G (p.Ser1277Cys)
c.3926C>G (p.Ser1309Cys)
c.3872C>G (p.Ser1291Cys)
c.3833C>G (p.Ser1278Cys)
c.3782C>G (p.Ser1261Cys)
c.914C>G (p.Ser305Cys)
18g.33743798C>TCA402189002ASXL3c.3953C>T (p.Ser1318Phe)
c.3950C>T (p.Ser1317Phe)
c.3830C>T (p.Ser1277Phe)
c.3926C>T (p.Ser1309Phe)
c.3872C>T (p.Ser1291Phe)
c.3833C>T (p.Ser1278Phe)
c.3782C>T (p.Ser1261Phe)
c.914C>T (p.Ser305Phe)
18g.33743799C>ACA503770091ASXL3c.3954C>A (p.Ser1318=)
c.3951C>A (p.Ser1317=)
c.3831C>A (p.Ser1277=)
c.3927C>A (p.Ser1309=)
c.3873C>A (p.Ser1291=)
c.3834C>A (p.Ser1278=)
c.3783C>A (p.Ser1261=)
c.915C>A (p.Ser305=)
18g.33743799C>GCA503770092ASXL3c.3954C>G (p.Ser1318=)
c.3951C>G (p.Ser1317=)
c.3831C>G (p.Ser1277=)
c.3927C>G (p.Ser1309=)
c.3873C>G (p.Ser1291=)
c.3834C>G (p.Ser1278=)
c.3783C>G (p.Ser1261=)
c.915C>G (p.Ser305=)
18g.33743799C>TCA503770094ASXL3c.3954C>T (p.Ser1318=)
c.3951C>T (p.Ser1317=)
c.3831C>T (p.Ser1277=)
c.3927C>T (p.Ser1309=)
c.3873C>T (p.Ser1291=)
c.3834C>T (p.Ser1278=)
c.3783C>T (p.Ser1261=)
c.915C>T (p.Ser305=)
COSMIC
18g.33743800A=CA2294857847ASXL3c.3955A= (p.Met1319=)
c.3952A= (p.Met1318=)
c.3832A= (p.Met1278=)
c.3928A= (p.Met1310=)
c.3874A= (p.Met1292=)
c.3835A= (p.Met1279=)
c.3784A= (p.Met1262=)
c.916A= (p.Met306=)
18g.33743800A>CCA402189011ASXL3c.3955A>C (p.Met1319Leu)
c.3952A>C (p.Met1318Leu)
c.3832A>C (p.Met1278Leu)
c.3928A>C (p.Met1310Leu)
c.3874A>C (p.Met1292Leu)
c.3835A>C (p.Met1279Leu)
c.3784A>C (p.Met1262Leu)
c.916A>C (p.Met306Leu)
18g.33743800A>GCA8934145ASXL3c.3955A>G (p.Met1319Val)
c.3952A>G (p.Met1318Val)
c.3832A>G (p.Met1278Val)
c.3928A>G (p.Met1310Val)
c.3874A>G (p.Met1292Val)
c.3835A>G (p.Met1279Val)
c.3784A>G (p.Met1262Val)
c.916A>G (p.Met306Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743800A>TCA402189017ASXL3c.3955A>T (p.Met1319Leu)
c.3952A>T (p.Met1318Leu)
c.3832A>T (p.Met1278Leu)
c.3928A>T (p.Met1310Leu)
c.3874A>T (p.Met1292Leu)
c.3835A>T (p.Met1279Leu)
c.3784A>T (p.Met1262Leu)
c.916A>T (p.Met306Leu)
18g.33743801T>ACA402189022ASXL3c.3956T>A (p.Met1319Lys)
c.3953T>A (p.Met1318Lys)
c.3833T>A (p.Met1278Lys)
c.3929T>A (p.Met1310Lys)
c.3875T>A (p.Met1292Lys)
c.3836T>A (p.Met1279Lys)
c.3785T>A (p.Met1262Lys)
c.917T>A (p.Met306Lys)
18g.33743801T>CCA402189024ASXL3c.3956T>C (p.Met1319Thr)
c.3953T>C (p.Met1318Thr)
c.3833T>C (p.Met1278Thr)
c.3929T>C (p.Met1310Thr)
c.3875T>C (p.Met1292Thr)
c.3836T>C (p.Met1279Thr)
c.3785T>C (p.Met1262Thr)
c.917T>C (p.Met306Thr)
dbSNP
18g.33743801T>GCA402189027ASXL3c.3956T>G (p.Met1319Arg)
c.3953T>G (p.Met1318Arg)
c.3833T>G (p.Met1278Arg)
c.3929T>G (p.Met1310Arg)
c.3875T>G (p.Met1292Arg)
c.3836T>G (p.Met1279Arg)
c.3785T>G (p.Met1262Arg)
c.917T>G (p.Met306Arg)
18g.33743801T=CA2294857848ASXL3c.3956T= (p.Met1319=)
c.3953T= (p.Met1318=)
c.3833T= (p.Met1278=)
c.3929T= (p.Met1310=)
c.3875T= (p.Met1292=)
c.3836T= (p.Met1279=)
c.3785T= (p.Met1262=)
c.917T= (p.Met306=)
18g.33743802G>ACA402189031ASXL3c.3957G>A (p.Met1319Ile)
c.3954G>A (p.Met1318Ile)
c.3834G>A (p.Met1278Ile)
c.3930G>A (p.Met1310Ile)
c.3876G>A (p.Met1292Ile)
c.3837G>A (p.Met1279Ile)
c.3786G>A (p.Met1262Ile)
c.918G>A (p.Met306Ile)
dbSNP
18g.33743802G>CCA402189033ASXL3c.3957G>C (p.Met1319Ile)
c.3954G>C (p.Met1318Ile)
c.3834G>C (p.Met1278Ile)
c.3930G>C (p.Met1310Ile)
c.3876G>C (p.Met1292Ile)
c.3837G>C (p.Met1279Ile)
c.3786G>C (p.Met1262Ile)
c.918G>C (p.Met306Ile)
18g.33743802G=CA2294857849ASXL3c.3957G= (p.Met1319=)
c.3954G= (p.Met1318=)
c.3834G= (p.Met1278=)
c.3930G= (p.Met1310=)
c.3876G= (p.Met1292=)
c.3837G= (p.Met1279=)
c.3786G= (p.Met1262=)
c.918G= (p.Met306=)
18g.33743802G>TCA402189035ASXL3c.3957G>T (p.Met1319Ile)
c.3954G>T (p.Met1318Ile)
c.3834G>T (p.Met1278Ile)
c.3930G>T (p.Met1310Ile)
c.3876G>T (p.Met1292Ile)
c.3837G>T (p.Met1279Ile)
c.3786G>T (p.Met1262Ile)
c.918G>T (p.Met306Ile)
18g.33743803G>ACA402189049ASXL3c.3958G>A (p.Asp1320Asn)
c.3955G>A (p.Asp1319Asn)
c.3835G>A (p.Asp1279Asn)
c.3931G>A (p.Asp1311Asn)
c.3877G>A (p.Asp1293Asn)
c.3838G>A (p.Asp1280Asn)
c.3787G>A (p.Asp1263Asn)
c.919G>A (p.Asp307Asn)
gnomAD v4 COSMIC
18g.33743803G>CCA402189052ASXL3c.3958G>C (p.Asp1320His)
c.3955G>C (p.Asp1319His)
c.3835G>C (p.Asp1279His)
c.3931G>C (p.Asp1311His)
c.3877G>C (p.Asp1293His)
c.3838G>C (p.Asp1280His)
c.3787G>C (p.Asp1263His)
c.919G>C (p.Asp307His)
18g.33743803G=CA2294857850ASXL3c.3958G= (p.Asp1320=)
c.3955G= (p.Asp1319=)
c.3835G= (p.Asp1279=)
c.3931G= (p.Asp1311=)
c.3877G= (p.Asp1293=)
c.3838G= (p.Asp1280=)
c.3787G= (p.Asp1263=)
c.919G= (p.Asp307=)
18g.33743803G>TCA8934146ASXL3c.3958G>T (p.Asp1320Tyr)
c.3955G>T (p.Asp1319Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3931G>T (p.Asp1311Tyr)
c.3877G>T (p.Asp1293Tyr)
c.3838G>T (p.Asp1280Tyr)
c.3787G>T (p.Asp1263Tyr)
c.919G>T (p.Asp307Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33743804A>CCA402189065ASXL3c.3959A>C (p.Asp1320Ala)
c.3956A>C (p.Asp1319Ala)
c.3836A>C (p.Asp1279Ala)
c.3932A>C (p.Asp1311Ala)
c.3878A>C (p.Asp1293Ala)
c.3839A>C (p.Asp1280Ala)
c.3788A>C (p.Asp1263Ala)
c.920A>C (p.Asp307Ala)
18g.33743804A>GCA402189063ASXL3c.3959A>G (p.Asp1320Gly)
c.3956A>G (p.Asp1319Gly)
c.3836A>G (p.Asp1279Gly)
c.3932A>G (p.Asp1311Gly)
c.3878A>G (p.Asp1293Gly)
c.3839A>G (p.Asp1280Gly)
c.3788A>G (p.Asp1263Gly)
c.920A>G (p.Asp307Gly)
18g.33743804A>TCA402189060ASXL3c.3959A>T (p.Asp1320Val)
c.3956A>T (p.Asp1319Val)
c.3836A>T (p.Asp1279Val)
c.3932A>T (p.Asp1311Val)
c.3878A>T (p.Asp1293Val)
c.3839A>T (p.Asp1280Val)
c.3788A>T (p.Asp1263Val)
c.920A>T (p.Asp307Val)
18g.33743805T>ACA402189068ASXL3c.3960T>A (p.Asp1320Glu)
c.3957T>A (p.Asp1319Glu)
c.3837T>A (p.Asp1279Glu)
c.3933T>A (p.Asp1311Glu)
c.3879T>A (p.Asp1293Glu)
c.3840T>A (p.Asp1280Glu)
c.3789T>A (p.Asp1263Glu)
c.921T>A (p.Asp307Glu)
18g.33743805T>CCA503770124ASXL3c.3960T>C (p.Asp1320=)
c.3957T>C (p.Asp1319=)
c.3837T>C (p.Asp1279=)
c.3933T>C (p.Asp1311=)
c.3879T>C (p.Asp1293=)
c.3840T>C (p.Asp1280=)
c.3789T>C (p.Asp1263=)
c.921T>C (p.Asp307=)
gnomAD v4
18g.33743805T>GCA402189071ASXL3c.3960T>G (p.Asp1320Glu)
c.3957T>G (p.Asp1319Glu)
c.3837T>G (p.Asp1279Glu)
c.3933T>G (p.Asp1311Glu)
c.3879T>G (p.Asp1293Glu)
c.3840T>G (p.Asp1280Glu)
c.3789T>G (p.Asp1263Glu)
c.921T>G (p.Asp307Glu)
18g.33743806G>ACA297793253ASXL3c.3961G>A (p.Asp1321Asn)
c.3958G>A (p.Asp1320Asn)
c.3838G>A (p.Asp1280Asn)
c.3934G>A (p.Asp1312Asn)
c.3880G>A (p.Asp1294Asn)
c.3841G>A (p.Asp1281Asn)
c.3790G>A (p.Asp1264Asn)
c.922G>A (p.Asp308Asn)
dbSNP gnomAD v4 COSMIC
18g.33743806G>CCA402189077ASXL3c.3961G>C (p.Asp1321His)
c.3958G>C (p.Asp1320His)
c.3838G>C (p.Asp1280His)
c.3934G>C (p.Asp1312His)
c.3880G>C (p.Asp1294His)
c.3841G>C (p.Asp1281His)
c.3790G>C (p.Asp1264His)
c.922G>C (p.Asp308His)
18g.33743806G=CA2294857851ASXL3c.3961G= (p.Asp1321=)
c.3958G= (p.Asp1320=)
c.3838G= (p.Asp1280=)
c.3934G= (p.Asp1312=)
c.3880G= (p.Asp1294=)
c.3841G= (p.Asp1281=)
c.3790G= (p.Asp1264=)
c.922G= (p.Asp308=)
18g.33743806G>TCA402189079ASXL3c.3961G>T (p.Asp1321Tyr)
c.3958G>T (p.Asp1320Tyr)
c.3838G>T (p.Asp1280Tyr)
c.3934G>T (p.Asp1312Tyr)
c.3880G>T (p.Asp1294Tyr)
c.3841G>T (p.Asp1281Tyr)
c.3790G>T (p.Asp1264Tyr)
c.922G>T (p.Asp308Tyr)
18g.33743807A>CCA402189083ASXL3c.3962A>C (p.Asp1321Ala)
c.3959A>C (p.Asp1320Ala)
c.3839A>C (p.Asp1280Ala)
c.3935A>C (p.Asp1312Ala)
c.3881A>C (p.Asp1294Ala)
c.3842A>C (p.Asp1281Ala)
c.3791A>C (p.Asp1264Ala)
c.923A>C (p.Asp308Ala)
18g.33743807A>GCA402189086ASXL3c.3962A>G (p.Asp1321Gly)
c.3959A>G (p.Asp1320Gly)
c.3839A>G (p.Asp1280Gly)
c.3935A>G (p.Asp1312Gly)
c.3881A>G (p.Asp1294Gly)
c.3842A>G (p.Asp1281Gly)
c.3791A>G (p.Asp1264Gly)
c.923A>G (p.Asp308Gly)
18g.33743807A>TCA402189090ASXL3c.3962A>T (p.Asp1321Val)
c.3959A>T (p.Asp1320Val)
c.3839A>T (p.Asp1280Val)
c.3935A>T (p.Asp1312Val)
c.3881A>T (p.Asp1294Val)
c.3842A>T (p.Asp1281Val)
c.3791A>T (p.Asp1264Val)
c.923A>T (p.Asp308Val)
18g.33743808T>ACA402189094ASXL3c.3963T>A (p.Asp1321Glu)
c.3960T>A (p.Asp1320Glu)
c.3840T>A (p.Asp1280Glu)
c.3936T>A (p.Asp1312Glu)
c.3882T>A (p.Asp1294Glu)
c.3843T>A (p.Asp1281Glu)
c.3792T>A (p.Asp1264Glu)
c.924T>A (p.Asp308Glu)
18g.33743808T>CCA503770139ASXL3c.3963T>C (p.Asp1321=)
c.3960T>C (p.Asp1320=)
c.3840T>C (p.Asp1280=)
c.3936T>C (p.Asp1312=)
c.3882T>C (p.Asp1294=)
c.3843T>C (p.Asp1281=)
c.3792T>C (p.Asp1264=)
c.924T>C (p.Asp308=)
18g.33743808T>GCA402189097ASXL3c.3963T>G (p.Asp1321Glu)
c.3960T>G (p.Asp1320Glu)
c.3840T>G (p.Asp1280Glu)
c.3936T>G (p.Asp1312Glu)
c.3882T>G (p.Asp1294Glu)
c.3843T>G (p.Asp1281Glu)
c.3792T>G (p.Asp1264Glu)
c.924T>G (p.Asp308Glu)
18g.33743809A>CCA402189101ASXL3c.3964A>C (p.Lys1322Gln)
c.3961A>C (p.Lys1321Gln)
c.3841A>C (p.Lys1281Gln)
c.3937A>C (p.Lys1313Gln)
c.3883A>C (p.Lys1295Gln)
c.3844A>C (p.Lys1282Gln)
c.3793A>C (p.Lys1265Gln)
c.925A>C (p.Lys309Gln)
18g.33743809A>GCA402189102ASXL3c.3964A>G (p.Lys1322Glu)
c.3961A>G (p.Lys1321Glu)
c.3841A>G (p.Lys1281Glu)
c.3937A>G (p.Lys1313Glu)
c.3883A>G (p.Lys1295Glu)
c.3844A>G (p.Lys1282Glu)
c.3793A>G (p.Lys1265Glu)
c.925A>G (p.Lys309Glu)
18g.33743809A>TCA402189106ASXL3c.3964A>T (p.Lys1322Ter)
c.3961A>T (p.Lys1321Ter)
c.3841A>T (p.Lys1281Ter)
c.3937A>T (p.Lys1313Ter)
c.3883A>T (p.Lys1295Ter)
c.3844A>T (p.Lys1282Ter)
c.3793A>T (p.Lys1265Ter)
c.925A>T (p.Lys309Ter)
18g.33743810A>CCA402189113ASXL3c.3965A>C (p.Lys1322Thr)
c.3962A>C (p.Lys1321Thr)
c.3842A>C (p.Lys1281Thr)
c.3938A>C (p.Lys1313Thr)
c.3884A>C (p.Lys1295Thr)
c.3845A>C (p.Lys1282Thr)
c.3794A>C (p.Lys1265Thr)
c.926A>C (p.Lys309Thr)
18g.33743810A>GCA402189116ASXL3c.3965A>G (p.Lys1322Arg)
c.3962A>G (p.Lys1321Arg)
c.3842A>G (p.Lys1281Arg)
c.3938A>G (p.Lys1313Arg)
c.3884A>G (p.Lys1295Arg)
c.3845A>G (p.Lys1282Arg)
c.3794A>G (p.Lys1265Arg)
c.926A>G (p.Lys309Arg)
18g.33743810A>TCA402189110ASXL3c.3965A>T (p.Lys1322Met)
c.3962A>T (p.Lys1321Met)
c.3842A>T (p.Lys1281Met)
c.3938A>T (p.Lys1313Met)
c.3884A>T (p.Lys1295Met)
c.3845A>T (p.Lys1282Met)
c.3794A>T (p.Lys1265Met)
c.926A>T (p.Lys309Met)
ClinVar
18g.33743811G>ACA503770153ASXL3c.3966G>A (p.Lys1322=)
c.3963G>A (p.Lys1321=)
c.3843G>A (p.Lys1281=)
c.3939G>A (p.Lys1313=)
c.3885G>A (p.Lys1295=)
c.3846G>A (p.Lys1282=)
c.3795G>A (p.Lys1265=)
c.927G>A (p.Lys309=)
gnomAD v4
18g.33743811G>CCA402189121ASXL3c.3966G>C (p.Lys1322Asn)
c.3963G>C (p.Lys1321Asn)
c.3843G>C (p.Lys1281Asn)
c.3939G>C (p.Lys1313Asn)
c.3885G>C (p.Lys1295Asn)
c.3846G>C (p.Lys1282Asn)
c.3795G>C (p.Lys1265Asn)
c.927G>C (p.Lys309Asn)
18g.33743811G>TCA402189118ASXL3c.3966G>T (p.Lys1322Asn)
c.3963G>T (p.Lys1321Asn)
c.3843G>T (p.Lys1281Asn)
c.3939G>T (p.Lys1313Asn)
c.3885G>T (p.Lys1295Asn)
c.3846G>T (p.Lys1282Asn)
c.3795G>T (p.Lys1265Asn)
c.927G>T (p.Lys309Asn)
18g.33743812C>ACA402189129ASXL3c.3967C>A (p.Gln1323Lys)
c.3964C>A (p.Gln1322Lys)
c.3844C>A (p.Gln1282Lys)
c.3940C>A (p.Gln1314Lys)
c.3886C>A (p.Gln1296Lys)
c.3847C>A (p.Gln1283Lys)
c.3796C>A (p.Gln1266Lys)
c.928C>A (p.Gln310Lys)
18g.33743812C=CA2294857852ASXL3c.3967C= (p.Gln1323=)
c.3964C= (p.Gln1322=)
c.3844C= (p.Gln1282=)
c.3940C= (p.Gln1314=)
c.3886C= (p.Gln1296=)
c.3847C= (p.Gln1283=)
c.3796C= (p.Gln1266=)
c.928C= (p.Gln310=)
18g.33743812C>GCA402189125ASXL3c.3967C>G (p.Gln1323Glu)
c.3964C>G (p.Gln1322Glu)
c.3844C>G (p.Gln1282Glu)
c.3940C>G (p.Gln1314Glu)
c.3886C>G (p.Gln1296Glu)
c.3847C>G (p.Gln1283Glu)
c.3796C>G (p.Gln1266Glu)
c.928C>G (p.Gln310Glu)
18g.33743812C>TCA402189132ASXL3c.3967C>T (p.Gln1323Ter)
c.3964C>T (p.Gln1322Ter)
c.3844C>T (p.Gln1282Ter)
c.3940C>T (p.Gln1314Ter)
c.3886C>T (p.Gln1296Ter)
c.3847C>T (p.Gln1283Ter)
c.3796C>T (p.Gln1266Ter)
c.928C>T (p.Gln310Ter)
ClinVar dbSNP
18g.33743813A=CA2294857853ASXL3c.3968A= (p.Gln1323=)
c.3965A= (p.Gln1322=)
c.3845A= (p.Gln1282=)
c.3941A= (p.Gln1314=)
c.3887A= (p.Gln1296=)
c.3848A= (p.Gln1283=)
c.3797A= (p.Gln1266=)
c.929A= (p.Gln310=)
18g.33743813A>CCA402189134ASXL3c.3968A>C (p.Gln1323Pro)
c.3965A>C (p.Gln1322Pro)
c.3845A>C (p.Gln1282Pro)
c.3941A>C (p.Gln1314Pro)
c.3887A>C (p.Gln1296Pro)
c.3848A>C (p.Gln1283Pro)
c.3797A>C (p.Gln1266Pro)
c.929A>C (p.Gln310Pro)
dbSNP gnomAD v2
18g.33743813A>GCA402189140ASXL3c.3968A>G (p.Gln1323Arg)
c.3965A>G (p.Gln1322Arg)
c.3845A>G (p.Gln1282Arg)
c.3941A>G (p.Gln1314Arg)
c.3887A>G (p.Gln1296Arg)
c.3848A>G (p.Gln1283Arg)
c.3797A>G (p.Gln1266Arg)
c.929A>G (p.Gln310Arg)
18g.33743813A>TCA402189136ASXL3c.3968A>T (p.Gln1323Leu)
c.3965A>T (p.Gln1322Leu)
c.3845A>T (p.Gln1282Leu)
c.3941A>T (p.Gln1314Leu)
c.3887A>T (p.Gln1296Leu)
c.3848A>T (p.Gln1283Leu)
c.3797A>T (p.Gln1266Leu)
c.929A>T (p.Gln310Leu)
dbSNP gnomAD v4
18g.33743814G>ACA503770164ASXL3c.3969G>A (p.Gln1323=)
c.3966G>A (p.Gln1322=)
c.3846G>A (p.Gln1282=)
c.3942G>A (p.Gln1314=)
c.3888G>A (p.Gln1296=)
c.3849G>A (p.Gln1283=)
c.3798G>A (p.Gln1266=)
c.930G>A (p.Gln310=)
18g.33743814G>CCA402189143ASXL3c.3969G>C (p.Gln1323His)
c.3966G>C (p.Gln1322His)
c.3846G>C (p.Gln1282His)
c.3942G>C (p.Gln1314His)
c.3888G>C (p.Gln1296His)
c.3849G>C (p.Gln1283His)
c.3798G>C (p.Gln1266His)
c.930G>C (p.Gln310His)
18g.33743814G>TCA402189144ASXL3c.3969G>T (p.Gln1323His)
c.3966G>T (p.Gln1322His)
c.3846G>T (p.Gln1282His)
c.3942G>T (p.Gln1314His)
c.3888G>T (p.Gln1296His)
c.3849G>T (p.Gln1283His)
c.3798G>T (p.Gln1266His)
c.930G>T (p.Gln310His)
18g.33743815T>ACA402189152ASXL3c.3970T>A (p.Leu1324Ile)
c.3967T>A (p.Leu1323Ile)
c.3847T>A (p.Leu1283Ile)
c.3943T>A (p.Leu1315Ile)
c.3889T>A (p.Leu1297Ile)
c.3850T>A (p.Leu1284Ile)
c.3799T>A (p.Leu1267Ile)
c.931T>A (p.Leu311Ile)
18g.33743815T>CCA503770169ASXL3c.3970T>C (p.Leu1324=)
c.3967T>C (p.Leu1323=)
c.3847T>C (p.Leu1283=)
c.3943T>C (p.Leu1315=)
c.3889T>C (p.Leu1297=)
c.3850T>C (p.Leu1284=)
c.3799T>C (p.Leu1267=)
c.931T>C (p.Leu311=)
dbSNP
18g.33743815T>GCA402189154ASXL3c.3970T>G (p.Leu1324Val)
c.3967T>G (p.Leu1323Val)
c.3847T>G (p.Leu1283Val)
c.3943T>G (p.Leu1315Val)
c.3889T>G (p.Leu1297Val)
c.3850T>G (p.Leu1284Val)
c.3799T>G (p.Leu1267Val)
c.931T>G (p.Leu311Val)
18g.33743815T=CA2294857854ASXL3c.3970T= (p.Leu1324=)
c.3967T= (p.Leu1323=)
c.3847T= (p.Leu1283=)
c.3943T= (p.Leu1315=)
c.3889T= (p.Leu1297=)
c.3850T= (p.Leu1284=)
c.3799T= (p.Leu1267=)
c.931T= (p.Leu311=)
18g.33743816T>ACA402189156ASXL3c.3971T>A (p.Leu1324Ter)
c.3968T>A (p.Leu1323Ter)
c.3848T>A (p.Leu1283Ter)
c.3944T>A (p.Leu1315Ter)
c.3890T>A (p.Leu1297Ter)
c.3851T>A (p.Leu1284Ter)
c.3800T>A (p.Leu1267Ter)
c.932T>A (p.Leu311Ter)
18g.33743816T>CCA297793255ASXL3c.3971T>C (p.Leu1324Ser)
c.3968T>C (p.Leu1323Ser)
c.3848T>C (p.Leu1283Ser)
c.3944T>C (p.Leu1315Ser)
c.3890T>C (p.Leu1297Ser)
c.3851T>C (p.Leu1284Ser)
c.3800T>C (p.Leu1267Ser)
c.932T>C (p.Leu311Ser)
dbSNP gnomAD v3 gnomAD v4
18g.33743816T>GCA402189159ASXL3c.3971T>G (p.Leu1324Ter)
c.3968T>G (p.Leu1323Ter)
c.3848T>G (p.Leu1283Ter)
c.3944T>G (p.Leu1315Ter)
c.3890T>G (p.Leu1297Ter)
c.3851T>G (p.Leu1284Ter)
c.3800T>G (p.Leu1267Ter)
c.932T>G (p.Leu311Ter)
18g.33743816T=CA2294857855ASXL3c.3971T= (p.Leu1324=)
c.3968T= (p.Leu1323=)
c.3848T= (p.Leu1283=)
c.3944T= (p.Leu1315=)
c.3890T= (p.Leu1297=)
c.3851T= (p.Leu1284=)
c.3800T= (p.Leu1267=)
c.932T= (p.Leu311=)
18g.33743817A>CCA402189162ASXL3c.3972A>C (p.Leu1324Phe)
c.3969A>C (p.Leu1323Phe)
c.3849A>C (p.Leu1283Phe)
c.3945A>C (p.Leu1315Phe)
c.3891A>C (p.Leu1297Phe)
c.3852A>C (p.Leu1284Phe)
c.3801A>C (p.Leu1267Phe)
c.933A>C (p.Leu311Phe)
18g.33743817A>GCA503770175ASXL3c.3972A>G (p.Leu1324=)
c.3969A>G (p.Leu1323=)
c.3849A>G (p.Leu1283=)
c.3945A>G (p.Leu1315=)
c.3891A>G (p.Leu1297=)
c.3852A>G (p.Leu1284=)
c.3801A>G (p.Leu1267=)
c.933A>G (p.Leu311=)
18g.33743817A>TCA402189166ASXL3c.3972A>T (p.Leu1324Phe)
c.3969A>T (p.Leu1323Phe)
c.3849A>T (p.Leu1283Phe)
c.3945A>T (p.Leu1315Phe)
c.3891A>T (p.Leu1297Phe)
c.3852A>T (p.Leu1284Phe)
c.3801A>T (p.Leu1267Phe)
c.933A>T (p.Leu311Phe)
18g.33743818C>ACA8934147ASXL3c.3973C>A (p.Leu1325Ile)
c.3970C>A (p.Leu1324Ile)
c.3850C>A (p.Leu1284Ile)
c.3946C>A (p.Leu1316Ile)
c.3892C>A (p.Leu1298Ile)
c.3853C>A (p.Leu1285Ile)
c.3802C>A (p.Leu1268Ile)
c.934C>A (p.Leu312Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743818C=CA2294857856ASXL3c.3973C= (p.Leu1325=)
c.3970C= (p.Leu1324=)
c.3850C= (p.Leu1284=)
c.3946C= (p.Leu1316=)
c.3892C= (p.Leu1298=)
c.3853C= (p.Leu1285=)
c.3802C= (p.Leu1268=)
c.934C= (p.Leu312=)
18g.33743818C>GCA402189172ASXL3c.3973C>G (p.Leu1325Val)
c.3970C>G (p.Leu1324Val)
c.3850C>G (p.Leu1284Val)
c.3946C>G (p.Leu1316Val)
c.3892C>G (p.Leu1298Val)
c.3853C>G (p.Leu1285Val)
c.3802C>G (p.Leu1268Val)
c.934C>G (p.Leu312Val)
gnomAD v4
18g.33743818C>TCA503770185ASXL3c.3973C>T (p.Leu1325=)
c.3970C>T (p.Leu1324=)
c.3850C>T (p.Leu1284=)
c.3946C>T (p.Leu1316=)
c.3892C>T (p.Leu1298=)
c.3853C>T (p.Leu1285=)
c.3802C>T (p.Leu1268=)
c.934C>T (p.Leu312=)
18g.33743819T>ACA402189175ASXL3c.3974T>A (p.Leu1325Gln)
c.3971T>A (p.Leu1324Gln)
c.3851T>A (p.Leu1284Gln)
c.3947T>A (p.Leu1316Gln)
c.3893T>A (p.Leu1298Gln)
c.3854T>A (p.Leu1285Gln)
c.3803T>A (p.Leu1268Gln)
c.935T>A (p.Leu312Gln)
COSMIC
18g.33743819T>CCA402189177ASXL3c.3974T>C (p.Leu1325Pro)
c.3971T>C (p.Leu1324Pro)
c.3851T>C (p.Leu1284Pro)
c.3947T>C (p.Leu1316Pro)
c.3893T>C (p.Leu1298Pro)
c.3854T>C (p.Leu1285Pro)
c.3803T>C (p.Leu1268Pro)
c.935T>C (p.Leu312Pro)
18g.33743819T>GCA402189180ASXL3c.3974T>G (p.Leu1325Arg)
c.3971T>G (p.Leu1324Arg)
c.3851T>G (p.Leu1284Arg)
c.3947T>G (p.Leu1316Arg)
c.3893T>G (p.Leu1298Arg)
c.3854T>G (p.Leu1285Arg)
c.3803T>G (p.Leu1268Arg)
c.935T>G (p.Leu312Arg)
18g.33743820A>CCA503770192ASXL3c.3975A>C (p.Leu1325=)
c.3972A>C (p.Leu1324=)
c.3852A>C (p.Leu1284=)
c.3948A>C (p.Leu1316=)
c.3894A>C (p.Leu1298=)
c.3855A>C (p.Leu1285=)
c.3804A>C (p.Leu1268=)
c.936A>C (p.Leu312=)
18g.33743820A>GCA503770193ASXL3c.3975A>G (p.Leu1325=)
c.3972A>G (p.Leu1324=)
c.3852A>G (p.Leu1284=)
c.3948A>G (p.Leu1316=)
c.3894A>G (p.Leu1298=)
c.3855A>G (p.Leu1285=)
c.3804A>G (p.Leu1268=)
c.936A>G (p.Leu312=)
18g.33743820A>TCA503770195ASXL3c.3975A>T (p.Leu1325=)
c.3972A>T (p.Leu1324=)
c.3852A>T (p.Leu1284=)
c.3948A>T (p.Leu1316=)
c.3894A>T (p.Leu1298=)
c.3855A>T (p.Leu1285=)
c.3804A>T (p.Leu1268=)
c.936A>T (p.Leu312=)
18g.33743821A=CA2294857857ASXL3c.3976A= (p.Ile1326=)
c.3973A= (p.Ile1325=)
c.3853A= (p.Ile1285=)
c.3949A= (p.Ile1317=)
c.3895A= (p.Ile1299=)
c.3856A= (p.Ile1286=)
c.3805A= (p.Ile1269=)
c.937A= (p.Ile313=)
18g.33743821A>CCA402189188ASXL3c.3976A>C (p.Ile1326Leu)
c.3973A>C (p.Ile1325Leu)
c.3853A>C (p.Ile1285Leu)
c.3949A>C (p.Ile1317Leu)
c.3895A>C (p.Ile1299Leu)
c.3856A>C (p.Ile1286Leu)
c.3805A>C (p.Ile1269Leu)
c.937A>C (p.Ile313Leu)
18g.33743821A>GCA402189192ASXL3c.3976A>G (p.Ile1326Val)
c.3973A>G (p.Ile1325Val)
c.3853A>G (p.Ile1285Val)
c.3949A>G (p.Ile1317Val)
c.3895A>G (p.Ile1299Val)
c.3856A>G (p.Ile1286Val)
c.3805A>G (p.Ile1269Val)
c.937A>G (p.Ile313Val)
dbSNP gnomAD v3 gnomAD v4
18g.33743821A>TCA402189190ASXL3c.3976A>T (p.Ile1326Leu)
c.3973A>T (p.Ile1325Leu)
c.3853A>T (p.Ile1285Leu)
c.3949A>T (p.Ile1317Leu)
c.3895A>T (p.Ile1299Leu)
c.3856A>T (p.Ile1286Leu)
c.3805A>T (p.Ile1269Leu)
c.937A>T (p.Ile313Leu)
18g.33743822T>ACA402189197ASXL3c.3977T>A (p.Ile1326Lys)
c.3974T>A (p.Ile1325Lys)
c.3854T>A (p.Ile1285Lys)
c.3950T>A (p.Ile1317Lys)
c.3896T>A (p.Ile1299Lys)
c.3857T>A (p.Ile1286Lys)
c.3806T>A (p.Ile1269Lys)
c.938T>A (p.Ile313Lys)
18g.33743822T>CCA402189199ASXL3c.3977T>C (p.Ile1326Thr)
c.3974T>C (p.Ile1325Thr)
c.3854T>C (p.Ile1285Thr)
c.3950T>C (p.Ile1317Thr)
c.3896T>C (p.Ile1299Thr)
c.3857T>C (p.Ile1286Thr)
c.3806T>C (p.Ile1269Thr)
c.938T>C (p.Ile313Thr)
18g.33743822T>GCA402189201ASXL3c.3977T>G (p.Ile1326Arg)
c.3974T>G (p.Ile1325Arg)
c.3854T>G (p.Ile1285Arg)
c.3950T>G (p.Ile1317Arg)
c.3896T>G (p.Ile1299Arg)
c.3857T>G (p.Ile1286Arg)
c.3806T>G (p.Ile1269Arg)
c.938T>G (p.Ile313Arg)
18g.33743823A=CA2294857858ASXL3c.3978A= (p.Ile1326=)
c.3975A= (p.Ile1325=)
c.3855A= (p.Ile1285=)
c.3951A= (p.Ile1317=)
c.3897A= (p.Ile1299=)
c.3858A= (p.Ile1286=)
c.3807A= (p.Ile1269=)
c.939A= (p.Ile313=)
18g.33743823A>CCA503770206ASXL3c.3978A>C (p.Ile1326=)
c.3975A>C (p.Ile1325=)
c.3855A>C (p.Ile1285=)
c.3951A>C (p.Ile1317=)
c.3897A>C (p.Ile1299=)
c.3858A>C (p.Ile1286=)
c.3807A>C (p.Ile1269=)
c.939A>C (p.Ile313=)
18g.33743823A>GCA402189205ASXL3c.3978A>G (p.Ile1326Met)
c.3975A>G (p.Ile1325Met)
c.3855A>G (p.Ile1285Met)
c.3951A>G (p.Ile1317Met)
c.3897A>G (p.Ile1299Met)
c.3858A>G (p.Ile1286Met)
c.3807A>G (p.Ile1269Met)
c.939A>G (p.Ile313Met)
ClinVar dbSNP
18g.33743823A>TCA503770208ASXL3c.3978A>T (p.Ile1326=)
c.3975A>T (p.Ile1325=)
c.3855A>T (p.Ile1285=)
c.3951A>T (p.Ile1317=)
c.3897A>T (p.Ile1299=)
c.3858A>T (p.Ile1286=)
c.3807A>T (p.Ile1269=)
c.939A>T (p.Ile313=)
18g.33743824T>ACA402189207ASXL3c.3979T>A (p.Ser1327Thr)
c.3976T>A (p.Ser1326Thr)
c.3856T>A (p.Ser1286Thr)
c.3952T>A (p.Ser1318Thr)
c.3898T>A (p.Ser1300Thr)
c.3859T>A (p.Ser1287Thr)
c.3808T>A (p.Ser1270Thr)
c.940T>A (p.Ser314Thr)
18g.33743824T>CCA8934148ASXL3c.3979T>C (p.Ser1327Pro)
c.3976T>C (p.Ser1326Pro)
c.3856T>C (p.Ser1286Pro)
c.3952T>C (p.Ser1318Pro)
c.3898T>C (p.Ser1300Pro)
c.3859T>C (p.Ser1287Pro)
c.3808T>C (p.Ser1270Pro)
c.940T>C (p.Ser314Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743824T>GCA402189211ASXL3c.3979T>G (p.Ser1327Ala)
c.3976T>G (p.Ser1326Ala)
c.3856T>G (p.Ser1286Ala)
c.3952T>G (p.Ser1318Ala)
c.3898T>G (p.Ser1300Ala)
c.3859T>G (p.Ser1287Ala)
c.3808T>G (p.Ser1270Ala)
c.940T>G (p.Ser314Ala)
18g.33743824T=CA2294857859ASXL3c.3979T= (p.Ser1327=)
c.3976T= (p.Ser1326=)
c.3856T= (p.Ser1286=)
c.3952T= (p.Ser1318=)
c.3898T= (p.Ser1300=)
c.3859T= (p.Ser1287=)
c.3808T= (p.Ser1270=)
c.940T= (p.Ser314=)
18g.33743825C>ACA402189215ASXL3c.3980C>A (p.Ser1327Ter)
c.3977C>A (p.Ser1326Ter)
c.3857C>A (p.Ser1286Ter)
c.3953C>A (p.Ser1318Ter)
c.3899C>A (p.Ser1300Ter)
c.3860C>A (p.Ser1287Ter)
c.3809C>A (p.Ser1270Ter)
c.941C>A (p.Ser314Ter)
18g.33743825C>GCA402189217ASXL3c.3980C>G (p.Ser1327Ter)
c.3977C>G (p.Ser1326Ter)
c.3857C>G (p.Ser1286Ter)
c.3953C>G (p.Ser1318Ter)
c.3899C>G (p.Ser1300Ter)
c.3860C>G (p.Ser1287Ter)
c.3809C>G (p.Ser1270Ter)
c.941C>G (p.Ser314Ter)
18g.33743825C>TCA402189221ASXL3c.3980C>T (p.Ser1327Leu)
c.3977C>T (p.Ser1326Leu)
c.3857C>T (p.Ser1286Leu)
c.3953C>T (p.Ser1318Leu)
c.3899C>T (p.Ser1300Leu)
c.3860C>T (p.Ser1287Leu)
c.3809C>T (p.Ser1270Leu)
c.941C>T (p.Ser314Leu)
18g.33743826A>CCA503770222ASXL3c.3981A>C (p.Ser1327=)
c.3978A>C (p.Ser1326=)
c.3858A>C (p.Ser1286=)
c.3954A>C (p.Ser1318=)
c.3900A>C (p.Ser1300=)
c.3861A>C (p.Ser1287=)
c.3810A>C (p.Ser1270=)
c.942A>C (p.Ser314=)
18g.33743826A>GCA503770223ASXL3c.3981A>G (p.Ser1327=)
c.3978A>G (p.Ser1326=)
c.3858A>G (p.Ser1286=)
c.3954A>G (p.Ser1318=)
c.3900A>G (p.Ser1300=)
c.3861A>G (p.Ser1287=)
c.3810A>G (p.Ser1270=)
c.942A>G (p.Ser314=)
18g.33743826A>TCA503770224ASXL3c.3981A>T (p.Ser1327=)
c.3978A>T (p.Ser1326=)
c.3858A>T (p.Ser1286=)
c.3954A>T (p.Ser1318=)
c.3900A>T (p.Ser1300=)
c.3861A>T (p.Ser1287=)
c.3810A>T (p.Ser1270=)
c.942A>T (p.Ser314=)
18g.33743827A>CCA402189225ASXL3c.3982A>C (p.Ser1328Arg)
c.3979A>C (p.Ser1327Arg)
c.3859A>C (p.Ser1287Arg)
c.3955A>C (p.Ser1319Arg)
c.3901A>C (p.Ser1301Arg)
c.3862A>C (p.Ser1288Arg)
c.3811A>C (p.Ser1271Arg)
c.943A>C (p.Ser315Arg)
18g.33743827A>GCA402189231ASXL3c.3982A>G (p.Ser1328Gly)
c.3979A>G (p.Ser1327Gly)
c.3859A>G (p.Ser1287Gly)
c.3955A>G (p.Ser1319Gly)
c.3901A>G (p.Ser1301Gly)
c.3862A>G (p.Ser1288Gly)
c.3811A>G (p.Ser1271Gly)
c.943A>G (p.Ser315Gly)
18g.33743827A>TCA402189228ASXL3c.3982A>T (p.Ser1328Cys)
c.3979A>T (p.Ser1327Cys)
c.3859A>T (p.Ser1287Cys)
c.3955A>T (p.Ser1319Cys)
c.3901A>T (p.Ser1301Cys)
c.3862A>T (p.Ser1288Cys)
c.3811A>T (p.Ser1271Cys)
c.943A>T (p.Ser315Cys)
18g.33743828G>ACA402189234ASXL3c.3983G>A (p.Ser1328Asn)
c.3980G>A (p.Ser1327Asn)
c.3860G>A (p.Ser1287Asn)
c.3956G>A (p.Ser1319Asn)
c.3902G>A (p.Ser1301Asn)
c.3863G>A (p.Ser1288Asn)
c.3812G>A (p.Ser1271Asn)
c.944G>A (p.Ser315Asn)
18g.33743828G>CCA402189236ASXL3c.3983G>C (p.Ser1328Thr)
c.3980G>C (p.Ser1327Thr)
c.3860G>C (p.Ser1287Thr)
c.3956G>C (p.Ser1319Thr)
c.3902G>C (p.Ser1301Thr)
c.3863G>C (p.Ser1288Thr)
c.3812G>C (p.Ser1271Thr)
c.944G>C (p.Ser315Thr)
18g.33743828G>TCA402189237ASXL3c.3983G>T (p.Ser1328Ile)
c.3980G>T (p.Ser1327Ile)
c.3860G>T (p.Ser1287Ile)
c.3956G>T (p.Ser1319Ile)
c.3902G>T (p.Ser1301Ile)
c.3863G>T (p.Ser1288Ile)
c.3812G>T (p.Ser1271Ile)
c.944G>T (p.Ser315Ile)
gnomAD v4
18g.33743829C>ACA402189239ASXL3c.3984C>A (p.Ser1328Arg)
c.3981C>A (p.Ser1327Arg)
c.3861C>A (p.Ser1287Arg)
c.3957C>A (p.Ser1319Arg)
c.3903C>A (p.Ser1301Arg)
c.3864C>A (p.Ser1288Arg)
c.3813C>A (p.Ser1271Arg)
c.945C>A (p.Ser315Arg)
18g.33743829C=CA2294857860ASXL3c.3984C= (p.Ser1328=)
c.3981C= (p.Ser1327=)
c.3861C= (p.Ser1287=)
c.3957C= (p.Ser1319=)
c.3903C= (p.Ser1301=)
c.3864C= (p.Ser1288=)
c.3813C= (p.Ser1271=)
c.945C= (p.Ser315=)
18g.33743829C>GCA402189242ASXL3c.3984C>G (p.Ser1328Arg)
c.3981C>G (p.Ser1327Arg)
c.3861C>G (p.Ser1287Arg)
c.3957C>G (p.Ser1319Arg)
c.3903C>G (p.Ser1301Arg)
c.3864C>G (p.Ser1288Arg)
c.3813C>G (p.Ser1271Arg)
c.945C>G (p.Ser315Arg)
18g.33743829C>TCA8934149ASXL3c.3984C>T (p.Ser1328=)
c.3981C>T (p.Ser1327=)
c.3861C>T (p.Ser1287=)
c.3957C>T (p.Ser1319=)
c.3903C>T (p.Ser1301=)
c.3864C>T (p.Ser1288=)
c.3813C>T (p.Ser1271=)
c.945C>T (p.Ser315=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743830A>CCA402189247ASXL3c.3985A>C (p.Ser1329Arg)
c.3982A>C (p.Ser1328Arg)
c.3862A>C (p.Ser1288Arg)
c.3958A>C (p.Ser1320Arg)
c.3904A>C (p.Ser1302Arg)
c.3865A>C (p.Ser1289Arg)
c.3814A>C (p.Ser1272Arg)
c.946A>C (p.Ser316Arg)
18g.33743830A>GCA402189248ASXL3c.3985A>G (p.Ser1329Gly)
c.3982A>G (p.Ser1328Gly)
c.3862A>G (p.Ser1288Gly)
c.3958A>G (p.Ser1320Gly)
c.3904A>G (p.Ser1302Gly)
c.3865A>G (p.Ser1289Gly)
c.3814A>G (p.Ser1272Gly)
c.946A>G (p.Ser316Gly)
18g.33743830A>TCA402189251ASXL3c.3985A>T (p.Ser1329Cys)
c.3982A>T (p.Ser1328Cys)
c.3862A>T (p.Ser1288Cys)
c.3958A>T (p.Ser1320Cys)
c.3904A>T (p.Ser1302Cys)
c.3865A>T (p.Ser1289Cys)
c.3814A>T (p.Ser1272Cys)
c.946A>T (p.Ser316Cys)
18g.33743831G>ACA402189255ASXL3c.3986G>A (p.Ser1329Asn)
c.3983G>A (p.Ser1328Asn)
c.3863G>A (p.Ser1288Asn)
c.3959G>A (p.Ser1320Asn)
c.3905G>A (p.Ser1302Asn)
c.3866G>A (p.Ser1289Asn)
c.3815G>A (p.Ser1272Asn)
c.947G>A (p.Ser316Asn)
gnomAD v4
18g.33743831G>CCA402189258ASXL3c.3986G>C (p.Ser1329Thr)
c.3983G>C (p.Ser1328Thr)
c.3863G>C (p.Ser1288Thr)
c.3959G>C (p.Ser1320Thr)
c.3905G>C (p.Ser1302Thr)
c.3866G>C (p.Ser1289Thr)
c.3815G>C (p.Ser1272Thr)
c.947G>C (p.Ser316Thr)
18g.33743831G>TCA402189261ASXL3c.3986G>T (p.Ser1329Ile)
c.3983G>T (p.Ser1328Ile)
c.3863G>T (p.Ser1288Ile)
c.3959G>T (p.Ser1320Ile)
c.3905G>T (p.Ser1302Ile)
c.3866G>T (p.Ser1289Ile)
c.3815G>T (p.Ser1272Ile)
c.947G>T (p.Ser316Ile)
18g.33743832C>ACA402189264ASXL3c.3987C>A (p.Ser1329Arg)
c.3984C>A (p.Ser1328Arg)
c.3864C>A (p.Ser1288Arg)
c.3960C>A (p.Ser1320Arg)
c.3906C>A (p.Ser1302Arg)
c.3867C>A (p.Ser1289Arg)
c.3816C>A (p.Ser1272Arg)
c.948C>A (p.Ser316Arg)
18g.33743832C>GCA402189267ASXL3c.3987C>G (p.Ser1329Arg)
c.3984C>G (p.Ser1328Arg)
c.3864C>G (p.Ser1288Arg)
c.3960C>G (p.Ser1320Arg)
c.3906C>G (p.Ser1302Arg)
c.3867C>G (p.Ser1289Arg)
c.3816C>G (p.Ser1272Arg)
c.948C>G (p.Ser316Arg)
18g.33743832C>TCA503770242ASXL3c.3987C>T (p.Ser1329=)
c.3984C>T (p.Ser1328=)
c.3864C>T (p.Ser1288=)
c.3960C>T (p.Ser1320=)
c.3906C>T (p.Ser1302=)
c.3867C>T (p.Ser1289=)
c.3816C>T (p.Ser1272=)
c.948C>T (p.Ser316=)
gnomAD v4
18g.33743833A=CA2294857861ASXL3c.3988A= (p.Ser1330=)
c.3985A= (p.Ser1329=)
c.3865A= (p.Ser1289=)
c.3961A= (p.Ser1321=)
c.3907A= (p.Ser1303=)
c.3868A= (p.Ser1290=)
c.3817A= (p.Ser1273=)
c.949A= (p.Ser317=)
18g.33743833A>CCA402189271ASXL3c.3988A>C (p.Ser1330Arg)
c.3985A>C (p.Ser1329Arg)
c.3865A>C (p.Ser1289Arg)
c.3961A>C (p.Ser1321Arg)
c.3907A>C (p.Ser1303Arg)
c.3868A>C (p.Ser1290Arg)
c.3817A>C (p.Ser1273Arg)
c.949A>C (p.Ser317Arg)
18g.33743833A>GCA8934150ASXL3c.3988A>G (p.Ser1330Gly)
c.3985A>G (p.Ser1329Gly)
c.3865A>G (p.Ser1289Gly)
c.3961A>G (p.Ser1321Gly)
c.3907A>G (p.Ser1303Gly)
c.3868A>G (p.Ser1290Gly)
c.3817A>G (p.Ser1273Gly)
c.949A>G (p.Ser317Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743833A>TCA402189276ASXL3c.3988A>T (p.Ser1330Cys)
c.3985A>T (p.Ser1329Cys)
c.3865A>T (p.Ser1289Cys)
c.3961A>T (p.Ser1321Cys)
c.3907A>T (p.Ser1303Cys)
c.3868A>T (p.Ser1290Cys)
c.3817A>T (p.Ser1273Cys)
c.949A>T (p.Ser317Cys)
dbSNP gnomAD v2
18g.33743834G>ACA402189280ASXL3c.3989G>A (p.Ser1330Asn)
c.3986G>A (p.Ser1329Asn)
c.3866G>A (p.Ser1289Asn)
c.3962G>A (p.Ser1321Asn)
c.3908G>A (p.Ser1303Asn)
c.3869G>A (p.Ser1290Asn)
c.3818G>A (p.Ser1273Asn)
c.950G>A (p.Ser317Asn)
18g.33743834G>CCA402189283ASXL3c.3989G>C (p.Ser1330Thr)
c.3986G>C (p.Ser1329Thr)
c.3866G>C (p.Ser1289Thr)
c.3962G>C (p.Ser1321Thr)
c.3908G>C (p.Ser1303Thr)
c.3869G>C (p.Ser1290Thr)
c.3818G>C (p.Ser1273Thr)
c.950G>C (p.Ser317Thr)
18g.33743834G>TCA402189286ASXL3c.3989G>T (p.Ser1330Ile)
c.3986G>T (p.Ser1329Ile)
c.3866G>T (p.Ser1289Ile)
c.3962G>T (p.Ser1321Ile)
c.3908G>T (p.Ser1303Ile)
c.3869G>T (p.Ser1290Ile)
c.3818G>T (p.Ser1273Ile)
c.950G>T (p.Ser317Ile)
18g.33743835T>ACA402189290ASXL3c.3990T>A (p.Ser1330Arg)
c.3987T>A (p.Ser1329Arg)
c.3867T>A (p.Ser1289Arg)
c.3963T>A (p.Ser1321Arg)
c.3909T>A (p.Ser1303Arg)
c.3870T>A (p.Ser1290Arg)
c.3819T>A (p.Ser1273Arg)
c.951T>A (p.Ser317Arg)
18g.33743835T>CCA503770256ASXL3c.3990T>C (p.Ser1330=)
c.3987T>C (p.Ser1329=)
c.3867T>C (p.Ser1289=)
c.3963T>C (p.Ser1321=)
c.3909T>C (p.Ser1303=)
c.3870T>C (p.Ser1290=)
c.3819T>C (p.Ser1273=)
c.951T>C (p.Ser317=)
gnomAD v4
18g.33743835T>GCA402189292ASXL3c.3990T>G (p.Ser1330Arg)
c.3987T>G (p.Ser1329Arg)
c.3867T>G (p.Ser1289Arg)
c.3963T>G (p.Ser1321Arg)
c.3909T>G (p.Ser1303Arg)
c.3870T>G (p.Ser1290Arg)
c.3819T>G (p.Ser1273Arg)
c.951T>G (p.Ser317Arg)
18g.33743836G>ACA297793263ASXL3c.3991G>A (p.Ala1331Thr)
c.3988G>A (p.Ala1330Thr)
c.3868G>A (p.Ala1290Thr)
c.3964G>A (p.Ala1322Thr)
c.3910G>A (p.Ala1304Thr)
c.3871G>A (p.Ala1291Thr)
c.3820G>A (p.Ala1274Thr)
c.952G>A (p.Ala318Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743836G>CCA402189297ASXL3c.3991G>C (p.Ala1331Pro)
c.3988G>C (p.Ala1330Pro)
c.3868G>C (p.Ala1290Pro)
c.3964G>C (p.Ala1322Pro)
c.3910G>C (p.Ala1304Pro)
c.3871G>C (p.Ala1291Pro)
c.3820G>C (p.Ala1274Pro)
c.952G>C (p.Ala318Pro)
18g.33743836G=CA2294857862ASXL3c.3991G= (p.Ala1331=)
c.3988G= (p.Ala1330=)
c.3868G= (p.Ala1290=)
c.3964G= (p.Ala1322=)
c.3910G= (p.Ala1304=)
c.3871G= (p.Ala1291=)
c.3820G= (p.Ala1274=)
c.952G= (p.Ala318=)
18g.33743836G>TCA402189299ASXL3c.3991G>T (p.Ala1331Ser)
c.3988G>T (p.Ala1330Ser)
c.3868G>T (p.Ala1290Ser)
c.3964G>T (p.Ala1322Ser)
c.3910G>T (p.Ala1304Ser)
c.3871G>T (p.Ala1291Ser)
c.3820G>T (p.Ala1274Ser)
c.952G>T (p.Ala318Ser)
18g.33743837C>ACA402189306ASXL3c.3992C>A (p.Ala1331Asp)
c.3989C>A (p.Ala1330Asp)
c.3869C>A (p.Ala1290Asp)
c.3965C>A (p.Ala1322Asp)
c.3911C>A (p.Ala1304Asp)
c.3872C>A (p.Ala1291Asp)
c.3821C>A (p.Ala1274Asp)
c.953C>A (p.Ala318Asp)
COSMIC
18g.33743837C=CA2294857863ASXL3c.3992C= (p.Ala1331=)
c.3989C= (p.Ala1330=)
c.3869C= (p.Ala1290=)
c.3965C= (p.Ala1322=)
c.3911C= (p.Ala1304=)
c.3872C= (p.Ala1291=)
c.3821C= (p.Ala1274=)
c.953C= (p.Ala318=)
18g.33743837C>GCA402189309ASXL3c.3992C>G (p.Ala1331Gly)
c.3989C>G (p.Ala1330Gly)
c.3869C>G (p.Ala1290Gly)
c.3965C>G (p.Ala1322Gly)
c.3911C>G (p.Ala1304Gly)
c.3872C>G (p.Ala1291Gly)
c.3821C>G (p.Ala1274Gly)
c.953C>G (p.Ala318Gly)
18g.33743837C>TCA402189304ASXL3c.3992C>T (p.Ala1331Val)
c.3989C>T (p.Ala1330Val)
c.3869C>T (p.Ala1290Val)
c.3965C>T (p.Ala1322Val)
c.3911C>T (p.Ala1304Val)
c.3872C>T (p.Ala1291Val)
c.3821C>T (p.Ala1274Val)
c.953C>T (p.Ala318Val)
dbSNP gnomAD v4
18g.33743838T>ACA503770268ASXL3c.3993T>A (p.Ala1331=)
c.3990T>A (p.Ala1330=)
c.3870T>A (p.Ala1290=)
c.3966T>A (p.Ala1322=)
c.3912T>A (p.Ala1304=)
c.3873T>A (p.Ala1291=)
c.3822T>A (p.Ala1274=)
c.954T>A (p.Ala318=)
18g.33743838T>CCA503770270ASXL3c.3993T>C (p.Ala1331=)
c.3990T>C (p.Ala1330=)
c.3870T>C (p.Ala1290=)
c.3966T>C (p.Ala1322=)
c.3912T>C (p.Ala1304=)
c.3873T>C (p.Ala1291=)
c.3822T>C (p.Ala1274=)
c.954T>C (p.Ala318=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743838T>GCA503770272ASXL3c.3993T>G (p.Ala1331=)
c.3990T>G (p.Ala1330=)
c.3870T>G (p.Ala1290=)
c.3966T>G (p.Ala1322=)
c.3912T>G (p.Ala1304=)
c.3873T>G (p.Ala1291=)
c.3822T>G (p.Ala1274=)
c.954T>G (p.Ala318=)
18g.33743838T=CA2294857864ASXL3c.3993T= (p.Ala1331=)
c.3990T= (p.Ala1330=)
c.3870T= (p.Ala1290=)
c.3966T= (p.Ala1322=)
c.3912T= (p.Ala1304=)
c.3873T= (p.Ala1291=)
c.3822T= (p.Ala1274=)
c.954T= (p.Ala318=)
18g.33743839A>CCA402189317ASXL3c.3994A>C (p.Ser1332Arg)
c.3991A>C (p.Ser1331Arg)
c.3871A>C (p.Ser1291Arg)
c.3967A>C (p.Ser1323Arg)
c.3913A>C (p.Ser1305Arg)
c.3874A>C (p.Ser1292Arg)
c.3823A>C (p.Ser1275Arg)
c.955A>C (p.Ser319Arg)
18g.33743839A>GCA402189313ASXL3c.3994A>G (p.Ser1332Gly)
c.3991A>G (p.Ser1331Gly)
c.3871A>G (p.Ser1291Gly)
c.3967A>G (p.Ser1323Gly)
c.3913A>G (p.Ser1305Gly)
c.3874A>G (p.Ser1292Gly)
c.3823A>G (p.Ser1275Gly)
c.955A>G (p.Ser319Gly)
18g.33743839A>TCA402189315ASXL3c.3994A>T (p.Ser1332Cys)
c.3991A>T (p.Ser1331Cys)
c.3871A>T (p.Ser1291Cys)
c.3967A>T (p.Ser1323Cys)
c.3913A>T (p.Ser1305Cys)
c.3874A>T (p.Ser1292Cys)
c.3823A>T (p.Ser1275Cys)
c.955A>T (p.Ser319Cys)
18g.33743840G>ACA402189321ASXL3c.3995G>A (p.Ser1332Asn)
c.3992G>A (p.Ser1331Asn)
c.3872G>A (p.Ser1291Asn)
c.3968G>A (p.Ser1323Asn)
c.3914G>A (p.Ser1305Asn)
c.3875G>A (p.Ser1292Asn)
c.3824G>A (p.Ser1275Asn)
c.956G>A (p.Ser319Asn)
dbSNP gnomAD v2
18g.33743840G>CCA402189323ASXL3c.3995G>C (p.Ser1332Thr)
c.3992G>C (p.Ser1331Thr)
c.3872G>C (p.Ser1291Thr)
c.3968G>C (p.Ser1323Thr)
c.3914G>C (p.Ser1305Thr)
c.3875G>C (p.Ser1292Thr)
c.3824G>C (p.Ser1275Thr)
c.956G>C (p.Ser319Thr)
18g.33743840G=CA2294857865ASXL3c.3995G= (p.Ser1332=)
c.3992G= (p.Ser1331=)
c.3872G= (p.Ser1291=)
c.3968G= (p.Ser1323=)
c.3914G= (p.Ser1305=)
c.3875G= (p.Ser1292=)
c.3824G= (p.Ser1275=)
c.956G= (p.Ser319=)
18g.33743840G>TCA402189326ASXL3c.3995G>T (p.Ser1332Ile)
c.3992G>T (p.Ser1331Ile)
c.3872G>T (p.Ser1291Ile)
c.3968G>T (p.Ser1323Ile)
c.3914G>T (p.Ser1305Ile)
c.3875G>T (p.Ser1292Ile)
c.3824G>T (p.Ser1275Ile)
c.956G>T (p.Ser319Ile)
18g.33743841T>ACA402189330ASXL3c.3996T>A (p.Ser1332Arg)
c.3993T>A (p.Ser1331Arg)
c.3873T>A (p.Ser1291Arg)
c.3969T>A (p.Ser1323Arg)
c.3915T>A (p.Ser1305Arg)
c.3876T>A (p.Ser1292Arg)
c.3825T>A (p.Ser1275Arg)
c.957T>A (p.Ser319Arg)
COSMIC
18g.33743841T>CCA503770283ASXL3c.3996T>C (p.Ser1332=)
c.3993T>C (p.Ser1331=)
c.3873T>C (p.Ser1291=)
c.3969T>C (p.Ser1323=)
c.3915T>C (p.Ser1305=)
c.3876T>C (p.Ser1292=)
c.3825T>C (p.Ser1275=)
c.957T>C (p.Ser319=)
18g.33743841T>GCA402189331ASXL3c.3996T>G (p.Ser1332Arg)
c.3993T>G (p.Ser1331Arg)
c.3873T>G (p.Ser1291Arg)
c.3969T>G (p.Ser1323Arg)
c.3915T>G (p.Ser1305Arg)
c.3876T>G (p.Ser1292Arg)
c.3825T>G (p.Ser1275Arg)
c.957T>G (p.Ser319Arg)
18g.33743842A>CCA402189334ASXL3c.3997A>C (p.Asn1333His)
c.3994A>C (p.Asn1332His)
c.3874A>C (p.Asn1292His)
c.3970A>C (p.Asn1324His)
c.3916A>C (p.Asn1306His)
c.3877A>C (p.Asn1293His)
c.3826A>C (p.Asn1276His)
c.958A>C (p.Asn320His)
18g.33743842A>GCA402189336ASXL3c.3997A>G (p.Asn1333Asp)
c.3994A>G (p.Asn1332Asp)
c.3874A>G (p.Asn1292Asp)
c.3970A>G (p.Asn1324Asp)
c.3916A>G (p.Asn1306Asp)
c.3877A>G (p.Asn1293Asp)
c.3826A>G (p.Asn1276Asp)
c.958A>G (p.Asn320Asp)
18g.33743842A>TCA402189338ASXL3c.3997A>T (p.Asn1333Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3970A>T (p.Asn1324Tyr)
c.3916A>T (p.Asn1306Tyr)
c.3877A>T (p.Asn1293Tyr)
c.3826A>T (p.Asn1276Tyr)
c.958A>T (p.Asn320Tyr)
18g.33743843A>CCA402189340ASXL3c.3998A>C (p.Asn1333Thr)
c.3995A>C (p.Asn1332Thr)
c.3875A>C (p.Asn1292Thr)
c.3971A>C (p.Asn1324Thr)
c.3917A>C (p.Asn1306Thr)
c.3878A>C (p.Asn1293Thr)
c.3827A>C (p.Asn1276Thr)
c.959A>C (p.Asn320Thr)
18g.33743843A>GCA402189343ASXL3c.3998A>G (p.Asn1333Ser)
c.3995A>G (p.Asn1332Ser)
c.3875A>G (p.Asn1292Ser)
c.3971A>G (p.Asn1324Ser)
c.3917A>G (p.Asn1306Ser)
c.3878A>G (p.Asn1293Ser)
c.3827A>G (p.Asn1276Ser)
c.959A>G (p.Asn320Ser)
18g.33743843A>TCA402189345ASXL3c.3998A>T (p.Asn1333Ile)
c.3995A>T (p.Asn1332Ile)
c.3875A>T (p.Asn1292Ile)
c.3971A>T (p.Asn1324Ile)
c.3917A>T (p.Asn1306Ile)
c.3878A>T (p.Asn1293Ile)
c.3827A>T (p.Asn1276Ile)
c.959A>T (p.Asn320Ile)
gnomAD v4
18g.33743844C>ACA402189351ASXL3c.3999C>A (p.Asn1333Lys)
c.3996C>A (p.Asn1332Lys)
c.3876C>A (p.Asn1292Lys)
c.3972C>A (p.Asn1324Lys)
c.3918C>A (p.Asn1306Lys)
c.3879C>A (p.Asn1293Lys)
c.3828C>A (p.Asn1276Lys)
c.960C>A (p.Asn320Lys)
18g.33743844C=CA2294857866ASXL3c.3999C= (p.Asn1333=)
c.3996C= (p.Asn1332=)
c.3876C= (p.Asn1292=)
c.3972C= (p.Asn1324=)
c.3918C= (p.Asn1306=)
c.3879C= (p.Asn1293=)
c.3828C= (p.Asn1276=)
c.960C= (p.Asn320=)
18g.33743844C>GCA402189348ASXL3c.3999C>G (p.Asn1333Lys)
c.3996C>G (p.Asn1332Lys)
c.3876C>G (p.Asn1292Lys)
c.3972C>G (p.Asn1324Lys)
c.3918C>G (p.Asn1306Lys)
c.3879C>G (p.Asn1293Lys)
c.3828C>G (p.Asn1276Lys)
c.960C>G (p.Asn320Lys)
dbSNP gnomAD v4
18g.33743844C>TCA503770290ASXL3c.3999C>T (p.Asn1333=)
c.3996C>T (p.Asn1332=)
c.3876C>T (p.Asn1292=)
c.3972C>T (p.Asn1324=)
c.3918C>T (p.Asn1306=)
c.3879C>T (p.Asn1293=)
c.3828C>T (p.Asn1276=)
c.960C>T (p.Asn320=)
18g.33743845T>ACA402189355ASXL3c.4000T>A (p.Leu1334Ile)
c.3997T>A (p.Leu1333Ile)
c.3877T>A (p.Leu1293Ile)
c.3973T>A (p.Leu1325Ile)
c.3919T>A (p.Leu1307Ile)
c.3880T>A (p.Leu1294Ile)
c.3829T>A (p.Leu1277Ile)
c.961T>A (p.Leu321Ile)
18g.33743845T>CCA503770295ASXL3c.4000T>C (p.Leu1334=)
c.3997T>C (p.Leu1333=)
c.3877T>C (p.Leu1293=)
c.3973T>C (p.Leu1325=)
c.3919T>C (p.Leu1307=)
c.3880T>C (p.Leu1294=)
c.3829T>C (p.Leu1277=)
c.961T>C (p.Leu321=)
18g.33743845T>GCA402189356ASXL3c.4000T>G (p.Leu1334Val)
c.3997T>G (p.Leu1333Val)
c.3877T>G (p.Leu1293Val)
c.3973T>G (p.Leu1325Val)
c.3919T>G (p.Leu1307Val)
c.3880T>G (p.Leu1294Val)
c.3829T>G (p.Leu1277Val)
c.961T>G (p.Leu321Val)
18g.33743846T>ACA402189360ASXL3c.4001T>A (p.Leu1334Ter)
c.3998T>A (p.Leu1333Ter)
c.3878T>A (p.Leu1293Ter)
c.3974T>A (p.Leu1325Ter)
c.3920T>A (p.Leu1307Ter)
c.3881T>A (p.Leu1294Ter)
c.3830T>A (p.Leu1277Ter)
c.962T>A (p.Leu321Ter)
18g.33743846T>CCA402189363ASXL3c.4001T>C (p.Leu1334Ser)
c.3998T>C (p.Leu1333Ser)
c.3878T>C (p.Leu1293Ser)
c.3974T>C (p.Leu1325Ser)
c.3920T>C (p.Leu1307Ser)
c.3881T>C (p.Leu1294Ser)
c.3830T>C (p.Leu1277Ser)
c.962T>C (p.Leu321Ser)
18g.33743846T>GCA402189365ASXL3c.4001T>G (p.Leu1334Ter)
c.3998T>G (p.Leu1333Ter)
c.3878T>G (p.Leu1293Ter)
c.3974T>G (p.Leu1325Ter)
c.3920T>G (p.Leu1307Ter)
c.3881T>G (p.Leu1294Ter)
c.3830T>G (p.Leu1277Ter)
c.962T>G (p.Leu321Ter)
18g.33743847A>CCA402189367ASXL3c.4002A>C (p.Leu1334Phe)
c.3999A>C (p.Leu1333Phe)
c.3879A>C (p.Leu1293Phe)
c.3975A>C (p.Leu1325Phe)
c.3921A>C (p.Leu1307Phe)
c.3882A>C (p.Leu1294Phe)
c.3831A>C (p.Leu1277Phe)
c.963A>C (p.Leu321Phe)
18g.33743847A>GCA503770302ASXL3c.4002A>G (p.Leu1334=)
c.3999A>G (p.Leu1333=)
c.3879A>G (p.Leu1293=)
c.3975A>G (p.Leu1325=)
c.3921A>G (p.Leu1307=)
c.3882A>G (p.Leu1294=)
c.3831A>G (p.Leu1277=)
c.963A>G (p.Leu321=)
18g.33743847A>TCA402189370ASXL3c.4002A>T (p.Leu1334Phe)
c.3999A>T (p.Leu1333Phe)
c.3879A>T (p.Leu1293Phe)
c.3975A>T (p.Leu1325Phe)
c.3921A>T (p.Leu1307Phe)
c.3882A>T (p.Leu1294Phe)
c.3831A>T (p.Leu1277Phe)
c.963A>T (p.Leu321Phe)
18g.33743848G>ACA402189374ASXL3c.4003G>A (p.Val1335Ile)
c.4000G>A (p.Val1334Ile)
c.3880G>A (p.Val1294Ile)
c.3976G>A (p.Val1326Ile)
c.3922G>A (p.Val1308Ile)
c.3883G>A (p.Val1295Ile)
c.3832G>A (p.Val1278Ile)
c.964G>A (p.Val322Ile)
dbSNP gnomAD v4
18g.33743848G>CCA402189377ASXL3c.4003G>C (p.Val1335Leu)
c.4000G>C (p.Val1334Leu)
c.3880G>C (p.Val1294Leu)
c.3976G>C (p.Val1326Leu)
c.3922G>C (p.Val1308Leu)
c.3883G>C (p.Val1295Leu)
c.3832G>C (p.Val1278Leu)
c.964G>C (p.Val322Leu)
18g.33743848G>TCA402189380ASXL3c.4003G>T (p.Val1335Phe)
c.4000G>T (p.Val1334Phe)
c.3880G>T (p.Val1294Phe)
c.3976G>T (p.Val1326Phe)
c.3922G>T (p.Val1308Phe)
c.3883G>T (p.Val1295Phe)
c.3832G>T (p.Val1278Phe)
c.964G>T (p.Val322Phe)
18g.33743849T>ACA402189385ASXL3c.4004T>A (p.Val1335Asp)
c.4001T>A (p.Val1334Asp)
c.3881T>A (p.Val1294Asp)
c.3977T>A (p.Val1326Asp)
c.3923T>A (p.Val1308Asp)
c.3884T>A (p.Val1295Asp)
c.3833T>A (p.Val1278Asp)
c.965T>A (p.Val322Asp)
18g.33743849T>CCA402189389ASXL3c.4004T>C (p.Val1335Ala)
c.4001T>C (p.Val1334Ala)
c.3881T>C (p.Val1294Ala)
c.3977T>C (p.Val1326Ala)
c.3923T>C (p.Val1308Ala)
c.3884T>C (p.Val1295Ala)
c.3833T>C (p.Val1278Ala)
c.965T>C (p.Val322Ala)
18g.33743849T>GCA402189391ASXL3c.4004T>G (p.Val1335Gly)
c.4001T>G (p.Val1334Gly)
c.3881T>G (p.Val1294Gly)
c.3977T>G (p.Val1326Gly)
c.3923T>G (p.Val1308Gly)
c.3884T>G (p.Val1295Gly)
c.3833T>G (p.Val1278Gly)
c.965T>G (p.Val322Gly)
gnomAD v4
18g.33743850C>ACA503770311ASXL3c.4005C>A (p.Val1335=)
c.4002C>A (p.Val1334=)
c.3882C>A (p.Val1294=)
c.3978C>A (p.Val1326=)
c.3924C>A (p.Val1308=)
c.3885C>A (p.Val1295=)
c.3834C>A (p.Val1278=)
c.966C>A (p.Val322=)
18g.33743850C=CA2294857867ASXL3c.4005C= (p.Val1335=)
c.4002C= (p.Val1334=)
c.3882C= (p.Val1294=)
c.3978C= (p.Val1326=)
c.3924C= (p.Val1308=)
c.3885C= (p.Val1295=)
c.3834C= (p.Val1278=)
c.966C= (p.Val322=)
18g.33743850C>GCA8934151ASXL3c.4005C>G (p.Val1335=)
c.4002C>G (p.Val1334=)
c.3882C>G (p.Val1294=)
c.3978C>G (p.Val1326=)
c.3924C>G (p.Val1308=)
c.3885C>G (p.Val1295=)
c.3834C>G (p.Val1278=)
c.966C>G (p.Val322=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743850C>TCA503770317ASXL3c.4005C>T (p.Val1335=)
c.4002C>T (p.Val1334=)
c.3882C>T (p.Val1294=)
c.3978C>T (p.Val1326=)
c.3924C>T (p.Val1308=)
c.3885C>T (p.Val1295=)
c.3834C>T (p.Val1278=)
c.966C>T (p.Val322=)
18g.33743851T>ACA402189402ASXL3c.4006T>A (p.Ser1336Thr)
c.4003T>A (p.Ser1335Thr)
c.3883T>A (p.Ser1295Thr)
c.3979T>A (p.Ser1327Thr)
c.3925T>A (p.Ser1309Thr)
c.3886T>A (p.Ser1296Thr)
c.3835T>A (p.Ser1279Thr)
c.967T>A (p.Ser323Thr)
18g.33743851T>CCA402189396ASXL3c.4006T>C (p.Ser1336Pro)
c.4003T>C (p.Ser1335Pro)
c.3883T>C (p.Ser1295Pro)
c.3979T>C (p.Ser1327Pro)
c.3925T>C (p.Ser1309Pro)
c.3886T>C (p.Ser1296Pro)
c.3835T>C (p.Ser1279Pro)
c.967T>C (p.Ser323Pro)
dbSNP gnomAD v3 gnomAD v4
18g.33743851T>GCA402189399ASXL3c.4006T>G (p.Ser1336Ala)
c.4003T>G (p.Ser1335Ala)
c.3883T>G (p.Ser1295Ala)
c.3979T>G (p.Ser1327Ala)
c.3925T>G (p.Ser1309Ala)
c.3886T>G (p.Ser1296Ala)
c.3835T>G (p.Ser1279Ala)
c.967T>G (p.Ser323Ala)
18g.33743851T=CA2294857868ASXL3c.4006T= (p.Ser1336=)
c.4003T= (p.Ser1335=)
c.3883T= (p.Ser1295=)
c.3979T= (p.Ser1327=)
c.3925T= (p.Ser1309=)
c.3886T= (p.Ser1296=)
c.3835T= (p.Ser1279=)
c.967T= (p.Ser323=)
18g.33743852C>ACA402189406ASXL3c.4007C>A (p.Ser1336Tyr)
c.4004C>A (p.Ser1335Tyr)
c.3884C>A (p.Ser1295Tyr)
c.3980C>A (p.Ser1327Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3887C>A (p.Ser1296Tyr)
c.3836C>A (p.Ser1279Tyr)
c.968C>A (p.Ser323Tyr)
18g.33743852C=CA2294857869ASXL3c.4007C= (p.Ser1336=)
c.4004C= (p.Ser1335=)
c.3884C= (p.Ser1295=)
c.3980C= (p.Ser1327=)
c.3926C= (p.Ser1309=)
c.3887C= (p.Ser1296=)
c.3836C= (p.Ser1279=)
c.968C= (p.Ser323=)
18g.33743852C>GCA402189409ASXL3c.4007C>G (p.Ser1336Cys)
c.4004C>G (p.Ser1335Cys)
c.3884C>G (p.Ser1295Cys)
c.3980C>G (p.Ser1327Cys)
c.3926C>G (p.Ser1309Cys)
c.3887C>G (p.Ser1296Cys)
c.3836C>G (p.Ser1279Cys)
c.968C>G (p.Ser323Cys)
18g.33743852C>TCA402189412ASXL3c.4007C>T (p.Ser1336Phe)
c.4004C>T (p.Ser1335Phe)
c.3884C>T (p.Ser1295Phe)
c.3980C>T (p.Ser1327Phe)
c.3926C>T (p.Ser1309Phe)
c.3887C>T (p.Ser1296Phe)
c.3836C>T (p.Ser1279Phe)
c.968C>T (p.Ser323Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743853C>ACA503770322ASXL3c.4008C>A (p.Ser1336=)
c.4005C>A (p.Ser1335=)
c.3885C>A (p.Ser1295=)
c.3981C>A (p.Ser1327=)
c.3927C>A (p.Ser1309=)
c.3888C>A (p.Ser1296=)
c.3837C>A (p.Ser1279=)
c.969C>A (p.Ser323=)
18g.33743853C=CA2294857870ASXL3c.4008C= (p.Ser1336=)
c.4005C= (p.Ser1335=)
c.3885C= (p.Ser1295=)
c.3981C= (p.Ser1327=)
c.3927C= (p.Ser1309=)
c.3888C= (p.Ser1296=)
c.3837C= (p.Ser1279=)
c.969C= (p.Ser323=)
18g.33743853C>GCA503770325ASXL3c.4008C>G (p.Ser1336=)
c.4005C>G (p.Ser1335=)
c.3885C>G (p.Ser1295=)
c.3981C>G (p.Ser1327=)
c.3927C>G (p.Ser1309=)
c.3888C>G (p.Ser1296=)
c.3837C>G (p.Ser1279=)
c.969C>G (p.Ser323=)
18g.33743853C>TCA8934152ASXL3c.4008C>T (p.Ser1336=)
c.4005C>T (p.Ser1335=)
c.3885C>T (p.Ser1295=)
c.3981C>T (p.Ser1327=)
c.3927C>T (p.Ser1309=)
c.3888C>T (p.Ser1296=)
c.3837C>T (p.Ser1279=)
c.969C>T (p.Ser323=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743854A>CCA402189418ASXL3c.4009A>C (p.Thr1337Pro)
c.4006A>C (p.Thr1336Pro)
c.3886A>C (p.Thr1296Pro)
c.3982A>C (p.Thr1328Pro)
c.3928A>C (p.Thr1310Pro)
c.3889A>C (p.Thr1297Pro)
c.3838A>C (p.Thr1280Pro)
c.970A>C (p.Thr324Pro)
18g.33743854A>GCA402189421ASXL3c.4009A>G (p.Thr1337Ala)
c.4006A>G (p.Thr1336Ala)
c.3886A>G (p.Thr1296Ala)
c.3982A>G (p.Thr1328Ala)
c.3928A>G (p.Thr1310Ala)
c.3889A>G (p.Thr1297Ala)
c.3838A>G (p.Thr1280Ala)
c.970A>G (p.Thr324Ala)
18g.33743854A>TCA402189424ASXL3c.4009A>T (p.Thr1337Ser)
c.4006A>T (p.Thr1336Ser)
c.3886A>T (p.Thr1296Ser)
c.3982A>T (p.Thr1328Ser)
c.3928A>T (p.Thr1310Ser)
c.3889A>T (p.Thr1297Ser)
c.3838A>T (p.Thr1280Ser)
c.970A>T (p.Thr324Ser)
18g.33743855C>ACA8934153ASXL3c.4010C>A (p.Thr1337Asn)
c.4007C>A (p.Thr1336Asn)
c.3887C>A (p.Thr1296Asn)
c.3983C>A (p.Thr1328Asn)
c.3929C>A (p.Thr1310Asn)
c.3890C>A (p.Thr1297Asn)
c.3839C>A (p.Thr1280Asn)
c.971C>A (p.Thr324Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743855C=CA2294857871ASXL3c.4010C= (p.Thr1337=)
c.4007C= (p.Thr1336=)
c.3887C= (p.Thr1296=)
c.3983C= (p.Thr1328=)
c.3929C= (p.Thr1310=)
c.3890C= (p.Thr1297=)
c.3839C= (p.Thr1280=)
c.971C= (p.Thr324=)
18g.33743855C>GCA402189430ASXL3c.4010C>G (p.Thr1337Ser)
c.4007C>G (p.Thr1336Ser)
c.3887C>G (p.Thr1296Ser)
c.3983C>G (p.Thr1328Ser)
c.3929C>G (p.Thr1310Ser)
c.3890C>G (p.Thr1297Ser)
c.3839C>G (p.Thr1280Ser)
c.971C>G (p.Thr324Ser)
dbSNP gnomAD v2 gnomAD v4
18g.33743855C>TCA402189432ASXL3c.4010C>T (p.Thr1337Ile)
c.4007C>T (p.Thr1336Ile)
c.3887C>T (p.Thr1296Ile)
c.3983C>T (p.Thr1328Ile)
c.3929C>T (p.Thr1310Ile)
c.3890C>T (p.Thr1297Ile)
c.3839C>T (p.Thr1280Ile)
c.971C>T (p.Thr324Ile)
18g.33743856T>ACA503770333ASXL3c.4011T>A (p.Thr1337=)
c.4008T>A (p.Thr1336=)
c.3888T>A (p.Thr1296=)
c.3984T>A (p.Thr1328=)
c.3930T>A (p.Thr1310=)
c.3891T>A (p.Thr1297=)
c.3840T>A (p.Thr1280=)
c.972T>A (p.Thr324=)
18g.33743856T>CCA503770330ASXL3c.4011T>C (p.Thr1337=)
c.4008T>C (p.Thr1336=)
c.3888T>C (p.Thr1296=)
c.3984T>C (p.Thr1328=)
c.3930T>C (p.Thr1310=)
c.3891T>C (p.Thr1297=)
c.3840T>C (p.Thr1280=)
c.972T>C (p.Thr324=)
gnomAD v3 gnomAD v4
18g.33743856T>GCA503770328ASXL3c.4011T>G (p.Thr1337=)
c.4008T>G (p.Thr1336=)
c.3888T>G (p.Thr1296=)
c.3984T>G (p.Thr1328=)
c.3930T>G (p.Thr1310=)
c.3891T>G (p.Thr1297=)
c.3840T>G (p.Thr1280=)
c.972T>G (p.Thr324=)
18g.33743857C>ACA402189440ASXL3c.4012C>A (p.Gln1338Lys)
c.4009C>A (p.Gln1337Lys)
c.3889C>A (p.Gln1297Lys)
c.3985C>A (p.Gln1329Lys)
c.3931C>A (p.Gln1311Lys)
c.3892C>A (p.Gln1298Lys)
c.3841C>A (p.Gln1281Lys)
c.973C>A (p.Gln325Lys)
18g.33743857C=CA2294857872ASXL3c.4012C= (p.Gln1338=)
c.4009C= (p.Gln1337=)
c.3889C= (p.Gln1297=)
c.3985C= (p.Gln1329=)
c.3931C= (p.Gln1311=)
c.3892C= (p.Gln1298=)
c.3841C= (p.Gln1281=)
c.973C= (p.Gln325=)
18g.33743857C>GCA402189443ASXL3c.4012C>G (p.Gln1338Glu)
c.4009C>G (p.Gln1337Glu)
c.3889C>G (p.Gln1297Glu)
c.3985C>G (p.Gln1329Glu)
c.3931C>G (p.Gln1311Glu)
c.3892C>G (p.Gln1298Glu)
c.3841C>G (p.Gln1281Glu)
c.973C>G (p.Gln325Glu)
dbSNP gnomAD v4
18g.33743857C>TCA402189436ASXL3c.4012C>T (p.Gln1338Ter)
c.4009C>T (p.Gln1337Ter)
c.3889C>T (p.Gln1297Ter)
c.3985C>T (p.Gln1329Ter)
c.3931C>T (p.Gln1311Ter)
c.3892C>T (p.Gln1298Ter)
c.3841C>T (p.Gln1281Ter)
c.973C>T (p.Gln325Ter)
18g.33743858A>CCA402189446ASXL3c.4013A>C (p.Gln1338Pro)
c.4010A>C (p.Gln1337Pro)
c.3890A>C (p.Gln1297Pro)
c.3986A>C (p.Gln1329Pro)
c.3932A>C (p.Gln1311Pro)
c.3893A>C (p.Gln1298Pro)
c.3842A>C (p.Gln1281Pro)
c.974A>C (p.Gln325Pro)
18g.33743858A>GCA402189449ASXL3c.4013A>G (p.Gln1338Arg)
c.4010A>G (p.Gln1337Arg)
c.3890A>G (p.Gln1297Arg)
c.3986A>G (p.Gln1329Arg)
c.3932A>G (p.Gln1311Arg)
c.3893A>G (p.Gln1298Arg)
c.3842A>G (p.Gln1281Arg)
c.974A>G (p.Gln325Arg)
18g.33743858A>TCA402189452ASXL3c.4013A>T (p.Gln1338Leu)
c.4010A>T (p.Gln1337Leu)
c.3890A>T (p.Gln1297Leu)
c.3986A>T (p.Gln1329Leu)
c.3932A>T (p.Gln1311Leu)
c.3893A>T (p.Gln1298Leu)
c.3842A>T (p.Gln1281Leu)
c.974A>T (p.Gln325Leu)
18g.33743859G>ACA8934155ASXL3c.4014G>A (p.Gln1338=)
c.4011G>A (p.Gln1337=)
c.3891G>A (p.Gln1297=)
c.3987G>A (p.Gln1329=)
c.3933G>A (p.Gln1311=)
c.3894G>A (p.Gln1298=)
c.3843G>A (p.Gln1281=)
c.975G>A (p.Gln325=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743859G>CCA8934156ASXL3c.4014G>C (p.Gln1338His)
c.4011G>C (p.Gln1337His)
c.3891G>C (p.Gln1297His)
c.3987G>C (p.Gln1329His)
c.3933G>C (p.Gln1311His)
c.3894G>C (p.Gln1298His)
c.3843G>C (p.Gln1281His)
c.975G>C (p.Gln325His)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743859G=CA2294857873ASXL3c.4014G= (p.Gln1338=)
c.4011G= (p.Gln1337=)
c.3891G= (p.Gln1297=)
c.3987G= (p.Gln1329=)
c.3933G= (p.Gln1311=)
c.3894G= (p.Gln1298=)
c.3843G= (p.Gln1281=)
c.975G= (p.Gln325=)
18g.33743859G>TCA8934154ASXL3c.4014G>T (p.Gln1338His)
c.4011G>T (p.Gln1337His)
c.3891G>T (p.Gln1297His)
c.3987G>T (p.Gln1329His)
c.3933G>T (p.Gln1311His)
c.3894G>T (p.Gln1298His)
c.3843G>T (p.Gln1281His)
c.975G>T (p.Gln325His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743860T>ACA402189465ASXL3c.4015T>A (p.Tyr1339Asn)
c.4012T>A (p.Tyr1338Asn)
c.3892T>A (p.Tyr1298Asn)
c.3988T>A (p.Tyr1330Asn)
c.3934T>A (p.Tyr1312Asn)
c.3895T>A (p.Tyr1299Asn)
c.3844T>A (p.Tyr1282Asn)
c.976T>A (p.Tyr326Asn)
dbSNP gnomAD v3 gnomAD v4
18g.33743860T>CCA402189472ASXL3c.4015T>C (p.Tyr1339His)
c.4012T>C (p.Tyr1338His)
c.3892T>C (p.Tyr1298His)
c.3988T>C (p.Tyr1330His)
c.3934T>C (p.Tyr1312His)
c.3895T>C (p.Tyr1299His)
c.3844T>C (p.Tyr1282His)
c.976T>C (p.Tyr326His)
gnomAD v4
18g.33743860T>GCA402189468ASXL3c.4015T>G (p.Tyr1339Asp)
c.4012T>G (p.Tyr1338Asp)
c.3892T>G (p.Tyr1298Asp)
c.3988T>G (p.Tyr1330Asp)
c.3934T>G (p.Tyr1312Asp)
c.3895T>G (p.Tyr1299Asp)
c.3844T>G (p.Tyr1282Asp)
c.976T>G (p.Tyr326Asp)
18g.33743860T=CA2294857874ASXL3c.4015T= (p.Tyr1339=)
c.4012T= (p.Tyr1338=)
c.3892T= (p.Tyr1298=)
c.3988T= (p.Tyr1330=)
c.3934T= (p.Tyr1312=)
c.3895T= (p.Tyr1299=)
c.3844T= (p.Tyr1282=)
c.976T= (p.Tyr326=)
18g.33743861A>CCA402189477ASXL3c.4016A>C (p.Tyr1339Ser)
c.4013A>C (p.Tyr1338Ser)
c.3893A>C (p.Tyr1298Ser)
c.3989A>C (p.Tyr1330Ser)
c.3935A>C (p.Tyr1312Ser)
c.3896A>C (p.Tyr1299Ser)
c.3845A>C (p.Tyr1282Ser)
c.977A>C (p.Tyr326Ser)
18g.33743861A>GCA402189480ASXL3c.4016A>G (p.Tyr1339Cys)
c.4013A>G (p.Tyr1338Cys)
c.3893A>G (p.Tyr1298Cys)
c.3989A>G (p.Tyr1330Cys)
c.3935A>G (p.Tyr1312Cys)
c.3896A>G (p.Tyr1299Cys)
c.3845A>G (p.Tyr1282Cys)
c.977A>G (p.Tyr326Cys)
18g.33743861A>TCA402189483ASXL3c.4016A>T (p.Tyr1339Phe)
c.4013A>T (p.Tyr1338Phe)
c.3893A>T (p.Tyr1298Phe)
c.3989A>T (p.Tyr1330Phe)
c.3935A>T (p.Tyr1312Phe)
c.3896A>T (p.Tyr1299Phe)
c.3845A>T (p.Tyr1282Phe)
c.977A>T (p.Tyr326Phe)
18g.33743862C>ACA402189486ASXL3c.4017C>A (p.Tyr1339Ter)
c.4014C>A (p.Tyr1338Ter)
c.3894C>A (p.Tyr1298Ter)
c.3990C>A (p.Tyr1330Ter)
c.3936C>A (p.Tyr1312Ter)
c.3897C>A (p.Tyr1299Ter)
c.3846C>A (p.Tyr1282Ter)
c.978C>A (p.Tyr326Ter)
18g.33743862C=CA2294857875ASXL3c.4017C= (p.Tyr1339=)
c.4014C= (p.Tyr1338=)
c.3894C= (p.Tyr1298=)
c.3990C= (p.Tyr1330=)
c.3936C= (p.Tyr1312=)
c.3897C= (p.Tyr1299=)
c.3846C= (p.Tyr1282=)
c.978C= (p.Tyr326=)
18g.33743862C>GCA402189488ASXL3c.4017C>G (p.Tyr1339Ter)
c.4014C>G (p.Tyr1338Ter)
c.3894C>G (p.Tyr1298Ter)
c.3990C>G (p.Tyr1330Ter)
c.3936C>G (p.Tyr1312Ter)
c.3897C>G (p.Tyr1299Ter)
c.3846C>G (p.Tyr1282Ter)
c.978C>G (p.Tyr326Ter)
ClinVar dbSNP
18g.33743862C>TCA503770351ASXL3c.4017C>T (p.Tyr1339=)
c.4014C>T (p.Tyr1338=)
c.3894C>T (p.Tyr1298=)
c.3990C>T (p.Tyr1330=)
c.3936C>T (p.Tyr1312=)
c.3897C>T (p.Tyr1299=)
c.3846C>T (p.Tyr1282=)
c.978C>T (p.Tyr326=)
gnomAD v4
18g.33743863A>CCA402189496ASXL3c.4018A>C (p.Thr1340Pro)
c.4015A>C (p.Thr1339Pro)
c.3895A>C (p.Thr1299Pro)
c.3991A>C (p.Thr1331Pro)
c.3937A>C (p.Thr1313Pro)
c.3898A>C (p.Thr1300Pro)
c.3847A>C (p.Thr1283Pro)
c.979A>C (p.Thr327Pro)
18g.33743863A>GCA402189499ASXL3c.4018A>G (p.Thr1340Ala)
c.4015A>G (p.Thr1339Ala)
c.3895A>G (p.Thr1299Ala)
c.3991A>G (p.Thr1331Ala)
c.3937A>G (p.Thr1313Ala)
c.3898A>G (p.Thr1300Ala)
c.3847A>G (p.Thr1283Ala)
c.979A>G (p.Thr327Ala)
18g.33743863A>TCA402189493ASXL3c.4018A>T (p.Thr1340Ser)
c.4015A>T (p.Thr1339Ser)
c.3895A>T (p.Thr1299Ser)
c.3991A>T (p.Thr1331Ser)
c.3937A>T (p.Thr1313Ser)
c.3898A>T (p.Thr1300Ser)
c.3847A>T (p.Thr1283Ser)
c.979A>T (p.Thr327Ser)
18g.33743864C>ACA402189507ASXL3c.4019C>A (p.Thr1340Asn)
c.4016C>A (p.Thr1339Asn)
c.3896C>A (p.Thr1299Asn)
c.3992C>A (p.Thr1331Asn)
c.3938C>A (p.Thr1313Asn)
c.3899C>A (p.Thr1300Asn)
c.3848C>A (p.Thr1283Asn)
c.980C>A (p.Thr327Asn)
18g.33743864C=CA2294857876ASXL3c.4019C= (p.Thr1340=)
c.4016C= (p.Thr1339=)
c.3896C= (p.Thr1299=)
c.3992C= (p.Thr1331=)
c.3938C= (p.Thr1313=)
c.3899C= (p.Thr1300=)
c.3848C= (p.Thr1283=)
c.980C= (p.Thr327=)
18g.33743864C>GCA402189503ASXL3c.4019C>G (p.Thr1340Ser)
c.4016C>G (p.Thr1339Ser)
c.3896C>G (p.Thr1299Ser)
c.3992C>G (p.Thr1331Ser)
c.3938C>G (p.Thr1313Ser)
c.3899C>G (p.Thr1300Ser)
c.3848C>G (p.Thr1283Ser)
c.980C>G (p.Thr327Ser)
18g.33743864C>TCA8934157ASXL3c.4019C>T (p.Thr1340Ile)
c.4016C>T (p.Thr1339Ile)
c.3896C>T (p.Thr1299Ile)
c.3992C>T (p.Thr1331Ile)
c.3938C>T (p.Thr1313Ile)
c.3899C>T (p.Thr1300Ile)
c.3848C>T (p.Thr1283Ile)
c.980C>T (p.Thr327Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743865C>ACA503770360ASXL3c.4020C>A (p.Thr1340=)
c.4017C>A (p.Thr1339=)
c.3897C>A (p.Thr1299=)
c.3993C>A (p.Thr1331=)
c.3939C>A (p.Thr1313=)
c.3900C>A (p.Thr1300=)
c.3849C>A (p.Thr1283=)
c.981C>A (p.Thr327=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743865C=CA2294857877ASXL3c.4020C= (p.Thr1340=)
c.4017C= (p.Thr1339=)
c.3897C= (p.Thr1299=)
c.3993C= (p.Thr1331=)
c.3939C= (p.Thr1313=)
c.3900C= (p.Thr1300=)
c.3849C= (p.Thr1283=)
c.981C= (p.Thr327=)
18g.33743865C>GCA503770362ASXL3c.4020C>G (p.Thr1340=)
c.4017C>G (p.Thr1339=)
c.3897C>G (p.Thr1299=)
c.3993C>G (p.Thr1331=)
c.3939C>G (p.Thr1313=)
c.3900C>G (p.Thr1300=)
c.3849C>G (p.Thr1283=)
c.981C>G (p.Thr327=)
dbSNP
18g.33743865C>TCA8934158ASXL3c.4020C>T (p.Thr1340=)
c.4017C>T (p.Thr1339=)
c.3897C>T (p.Thr1299=)
c.3993C>T (p.Thr1331=)
c.3939C>T (p.Thr1313=)
c.3900C>T (p.Thr1300=)
c.3849C>T (p.Thr1283=)
c.981C>T (p.Thr327=)
dbSNP ExAC gnomAD v2 COSMIC
18g.33743866T>ACA402189514ASXL3c.4021T>A (p.Ser1341Thr)
c.4018T>A (p.Ser1340Thr)
c.3898T>A (p.Ser1300Thr)
c.3994T>A (p.Ser1332Thr)
c.3940T>A (p.Ser1314Thr)
c.3901T>A (p.Ser1301Thr)
c.3850T>A (p.Ser1284Thr)
c.982T>A (p.Ser328Thr)
18g.33743866T>CCA402189518ASXL3c.4021T>C (p.Ser1341Pro)
c.4018T>C (p.Ser1340Pro)
c.3898T>C (p.Ser1300Pro)
c.3994T>C (p.Ser1332Pro)
c.3940T>C (p.Ser1314Pro)
c.3901T>C (p.Ser1301Pro)
c.3850T>C (p.Ser1284Pro)
c.982T>C (p.Ser328Pro)
dbSNP
18g.33743866T>GCA402189520ASXL3c.4021T>G (p.Ser1341Ala)
c.4018T>G (p.Ser1340Ala)
c.3898T>G (p.Ser1300Ala)
c.3994T>G (p.Ser1332Ala)
c.3940T>G (p.Ser1314Ala)
c.3901T>G (p.Ser1301Ala)
c.3850T>G (p.Ser1284Ala)
c.982T>G (p.Ser328Ala)
18g.33743866T=CA2294857878ASXL3c.4021T= (p.Ser1341=)
c.4018T= (p.Ser1340=)
c.3898T= (p.Ser1300=)
c.3994T= (p.Ser1332=)
c.3940T= (p.Ser1314=)
c.3901T= (p.Ser1301=)
c.3850T= (p.Ser1284=)
c.982T= (p.Ser328=)
18g.33743867C>ACA402189525ASXL3c.4022C>A (p.Ser1341Tyr)
c.4019C>A (p.Ser1340Tyr)
c.3899C>A (p.Ser1300Tyr)
c.3995C>A (p.Ser1332Tyr)
c.3941C>A (p.Ser1314Tyr)
c.3902C>A (p.Ser1301Tyr)
c.3851C>A (p.Ser1284Tyr)
c.983C>A (p.Ser328Tyr)
18g.33743867C>GCA402189528ASXL3c.4022C>G (p.Ser1341Cys)
c.4019C>G (p.Ser1340Cys)
c.3899C>G (p.Ser1300Cys)
c.3995C>G (p.Ser1332Cys)
c.3941C>G (p.Ser1314Cys)
c.3902C>G (p.Ser1301Cys)
c.3851C>G (p.Ser1284Cys)
c.983C>G (p.Ser328Cys)
18g.33743867C>TCA402189531ASXL3c.4022C>T (p.Ser1341Phe)
c.4019C>T (p.Ser1340Phe)
c.3899C>T (p.Ser1300Phe)
c.3995C>T (p.Ser1332Phe)
c.3941C>T (p.Ser1314Phe)
c.3902C>T (p.Ser1301Phe)
c.3851C>T (p.Ser1284Phe)
c.983C>T (p.Ser328Phe)
18g.33743867_33743869delinsCTGCA2294857879ASXL3c.4022_4024delinsCTG (p.Ser1341=)
c.4019_4021delinsCTG (p.Ser1340=)
c.3899_3901delinsCTG (p.Ser1300=)
c.3995_3997delinsCTG (p.Ser1332=)
c.3941_3943delinsCTG (p.Ser1314=)
c.3902_3904delinsCTG (p.Ser1301=)
c.3851_3853delinsCTG (p.Ser1284=)
c.983_985delinsCTG (p.Ser328=)
18g.33743868T>ACA503770371ASXL3c.4023T>A (p.Ser1341=)
c.4020T>A (p.Ser1340=)
c.3900T>A (p.Ser1300=)
c.3996T>A (p.Ser1332=)
c.3942T>A (p.Ser1314=)
c.3903T>A (p.Ser1301=)
c.3852T>A (p.Ser1284=)
c.984T>A (p.Ser328=)
18g.33743868T>CCA503770372ASXL3c.4023T>C (p.Ser1341=)
c.4020T>C (p.Ser1340=)
c.3900T>C (p.Ser1300=)
c.3996T>C (p.Ser1332=)
c.3942T>C (p.Ser1314=)
c.3903T>C (p.Ser1301=)
c.3852T>C (p.Ser1284=)
c.984T>C (p.Ser328=)
18g.33743868T>GCA503770373ASXL3c.4023T>G (p.Ser1341=)
c.4020T>G (p.Ser1340=)
c.3900T>G (p.Ser1300=)
c.3996T>G (p.Ser1332=)
c.3942T>G (p.Ser1314=)
c.3903T>G (p.Ser1301=)
c.3852T>G (p.Ser1284=)
c.984T>G (p.Ser328=)
18g.33743870_33743871delCA10603619ASXL3c.4025_4026del (p.Val1342AlafsTer15)
c.4022_4023del (p.Val1341AlafsTer15)
c.3902_3903del (p.Val1301AlafsTer15)
c.3998_3999del (p.Val1333AlafsTer15)
c.3944_3945del (p.Val1315AlafsTer15)
c.3905_3906del (p.Val1302AlafsTer15)
c.3854_3855del (p.Val1285AlafsTer15)
c.986_987del (p.Val329AlafsTer15)
ClinVar dbSNP
18g.33743869G>ACA402189540ASXL3c.4024G>A (p.Val1342Met)
c.4021G>A (p.Val1341Met)
c.3901G>A (p.Val1301Met)
c.3997G>A (p.Val1333Met)
c.3943G>A (p.Val1315Met)
c.3904G>A (p.Val1302Met)
c.3853G>A (p.Val1285Met)
c.985G>A (p.Val329Met)
gnomAD v4
18g.33743869G>CCA402189543ASXL3c.4024G>C (p.Val1342Leu)
c.4021G>C (p.Val1341Leu)
c.3901G>C (p.Val1301Leu)
c.3997G>C (p.Val1333Leu)
c.3943G>C (p.Val1315Leu)
c.3904G>C (p.Val1302Leu)
c.3853G>C (p.Val1285Leu)
c.985G>C (p.Val329Leu)
18g.33743869G>TCA402189537ASXL3c.4024G>T (p.Val1342Leu)
c.4021G>T (p.Val1341Leu)
c.3901G>T (p.Val1301Leu)
c.3997G>T (p.Val1333Leu)
c.3943G>T (p.Val1315Leu)
c.3904G>T (p.Val1302Leu)
c.3853G>T (p.Val1285Leu)
c.985G>T (p.Val329Leu)
18g.33743870T>ACA402189545ASXL3c.4025T>A (p.Val1342Glu)
c.4022T>A (p.Val1341Glu)
c.3902T>A (p.Val1301Glu)
c.3998T>A (p.Val1333Glu)
c.3944T>A (p.Val1315Glu)
c.3905T>A (p.Val1302Glu)
c.3854T>A (p.Val1285Glu)
c.986T>A (p.Val329Glu)
18g.33743870T>CCA402189548ASXL3c.4025T>C (p.Val1342Ala)
c.4022T>C (p.Val1341Ala)
c.3902T>C (p.Val1301Ala)
c.3998T>C (p.Val1333Ala)
c.3944T>C (p.Val1315Ala)
c.3905T>C (p.Val1302Ala)
c.3854T>C (p.Val1285Ala)
c.986T>C (p.Val329Ala)
18g.33743870T>GCA402189551ASXL3c.4025T>G (p.Val1342Gly)
c.4022T>G (p.Val1341Gly)
c.3902T>G (p.Val1301Gly)
c.3998T>G (p.Val1333Gly)
c.3944T>G (p.Val1315Gly)
c.3905T>G (p.Val1302Gly)
c.3854T>G (p.Val1285Gly)
c.986T>G (p.Val329Gly)
18g.33743871G>ACA503770385ASXL3c.4026G>A (p.Val1342=)
c.4023G>A (p.Val1341=)
c.3903G>A (p.Val1301=)
c.3999G>A (p.Val1333=)
c.3945G>A (p.Val1315=)
c.3906G>A (p.Val1302=)
c.3855G>A (p.Val1285=)
c.987G>A (p.Val329=)
18g.33743871G>CCA503770387ASXL3c.4026G>C (p.Val1342=)
c.4023G>C (p.Val1341=)
c.3903G>C (p.Val1301=)
c.3999G>C (p.Val1333=)
c.3945G>C (p.Val1315=)
c.3906G>C (p.Val1302=)
c.3855G>C (p.Val1285=)
c.987G>C (p.Val329=)
18g.33743871G>TCA503770388ASXL3c.4026G>T (p.Val1342=)
c.4023G>T (p.Val1341=)
c.3903G>T (p.Val1301=)
c.3999G>T (p.Val1333=)
c.3945G>T (p.Val1315=)
c.3906G>T (p.Val1302=)
c.3855G>T (p.Val1285=)
c.987G>T (p.Val329=)
18g.33743872C>ACA402189554ASXL3c.4027C>A (p.Pro1343Thr)
c.4024C>A (p.Pro1342Thr)
c.3904C>A (p.Pro1302Thr)
c.4000C>A (p.Pro1334Thr)
c.3946C>A (p.Pro1316Thr)
c.3907C>A (p.Pro1303Thr)
c.3856C>A (p.Pro1286Thr)
c.988C>A (p.Pro330Thr)
18g.33743872C=CA2294857880ASXL3c.4027C= (p.Pro1343=)
c.4024C= (p.Pro1342=)
c.3904C= (p.Pro1302=)
c.4000C= (p.Pro1334=)
c.3946C= (p.Pro1316=)
c.3907C= (p.Pro1303=)
c.3856C= (p.Pro1286=)
c.988C= (p.Pro330=)
18g.33743872C>GCA402189557ASXL3c.4027C>G (p.Pro1343Ala)
c.4024C>G (p.Pro1342Ala)
c.3904C>G (p.Pro1302Ala)
c.4000C>G (p.Pro1334Ala)
c.3946C>G (p.Pro1316Ala)
c.3907C>G (p.Pro1303Ala)
c.3856C>G (p.Pro1286Ala)
c.988C>G (p.Pro330Ala)
18g.33743872C>TCA8934159ASXL3c.4027C>T (p.Pro1343Ser)
c.4024C>T (p.Pro1342Ser)
c.3904C>T (p.Pro1302Ser)
c.4000C>T (p.Pro1334Ser)
c.3946C>T (p.Pro1316Ser)
c.3907C>T (p.Pro1303Ser)
c.3856C>T (p.Pro1286Ser)
c.988C>T (p.Pro330Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743873C>ACA402189564ASXL3c.4028C>A (p.Pro1343Gln)
c.4025C>A (p.Pro1342Gln)
c.3905C>A (p.Pro1302Gln)
c.4001C>A (p.Pro1334Gln)
c.3947C>A (p.Pro1316Gln)
c.3908C>A (p.Pro1303Gln)
c.3857C>A (p.Pro1286Gln)
c.989C>A (p.Pro330Gln)
18g.33743873C=CA2294857881ASXL3c.4028C= (p.Pro1343=)
c.4025C= (p.Pro1342=)
c.3905C= (p.Pro1302=)
c.4001C= (p.Pro1334=)
c.3947C= (p.Pro1316=)
c.3908C= (p.Pro1303=)
c.3857C= (p.Pro1286=)
c.989C= (p.Pro330=)
18g.33743873C>GCA402189568ASXL3c.4028C>G (p.Pro1343Arg)
c.4025C>G (p.Pro1342Arg)
c.3905C>G (p.Pro1302Arg)
c.4001C>G (p.Pro1334Arg)
c.3947C>G (p.Pro1316Arg)
c.3908C>G (p.Pro1303Arg)
c.3857C>G (p.Pro1286Arg)
c.989C>G (p.Pro330Arg)
18g.33743873C>TCA402189565ASXL3c.4028C>T (p.Pro1343Leu)
c.4025C>T (p.Pro1342Leu)
c.3905C>T (p.Pro1302Leu)
c.4001C>T (p.Pro1334Leu)
c.3947C>T (p.Pro1316Leu)
c.3908C>T (p.Pro1303Leu)
c.3857C>T (p.Pro1286Leu)
c.989C>T (p.Pro330Leu)
dbSNP
18g.33743874A>CCA503770395ASXL3c.4029A>C (p.Pro1343=)
c.4026A>C (p.Pro1342=)
c.3906A>C (p.Pro1302=)
c.4002A>C (p.Pro1334=)
c.3948A>C (p.Pro1316=)
c.3909A>C (p.Pro1303=)
c.3858A>C (p.Pro1286=)
c.990A>C (p.Pro330=)
18g.33743874A>GCA503770397ASXL3c.4029A>G (p.Pro1343=)
c.4026A>G (p.Pro1342=)
c.3906A>G (p.Pro1302=)
c.4002A>G (p.Pro1334=)
c.3948A>G (p.Pro1316=)
c.3909A>G (p.Pro1303=)
c.3858A>G (p.Pro1286=)
c.990A>G (p.Pro330=)
18g.33743874A>TCA503770399ASXL3c.4029A>T (p.Pro1343=)
c.4026A>T (p.Pro1342=)
c.3906A>T (p.Pro1302=)
c.4002A>T (p.Pro1334=)
c.3948A>T (p.Pro1316=)
c.3909A>T (p.Pro1303=)
c.3858A>T (p.Pro1286=)
c.990A>T (p.Pro330=)
18g.33743875A=CA2294857882ASXL3c.4030A= (p.Thr1344=)
c.4027A= (p.Thr1343=)
c.3907A= (p.Thr1303=)
c.4003A= (p.Thr1335=)
c.3949A= (p.Thr1317=)
c.3910A= (p.Thr1304=)
c.3859A= (p.Thr1287=)
c.991A= (p.Thr331=)
18g.33743875A>CCA402189576ASXL3c.4030A>C (p.Thr1344Pro)
c.4027A>C (p.Thr1343Pro)
c.3907A>C (p.Thr1303Pro)
c.4003A>C (p.Thr1335Pro)
c.3949A>C (p.Thr1317Pro)
c.3910A>C (p.Thr1304Pro)
c.3859A>C (p.Thr1287Pro)
c.991A>C (p.Thr331Pro)
18g.33743875A>GCA8934160ASXL3c.4030A>G (p.Thr1344Ala)
c.4027A>G (p.Thr1343Ala)
c.3907A>G (p.Thr1303Ala)
c.4003A>G (p.Thr1335Ala)
c.3949A>G (p.Thr1317Ala)
c.3910A>G (p.Thr1304Ala)
c.3859A>G (p.Thr1287Ala)
c.991A>G (p.Thr331Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743875A>TCA402189581ASXL3c.4030A>T (p.Thr1344Ser)
c.4027A>T (p.Thr1343Ser)
c.3907A>T (p.Thr1303Ser)
c.4003A>T (p.Thr1335Ser)
c.3949A>T (p.Thr1317Ser)
c.3910A>T (p.Thr1304Ser)
c.3859A>T (p.Thr1287Ser)
c.991A>T (p.Thr331Ser)
18g.33743876C>ACA402189586ASXL3c.4031C>A (p.Thr1344Asn)
c.4028C>A (p.Thr1343Asn)
c.3908C>A (p.Thr1303Asn)
c.4004C>A (p.Thr1335Asn)
c.3950C>A (p.Thr1317Asn)
c.3911C>A (p.Thr1304Asn)
c.3860C>A (p.Thr1287Asn)
c.992C>A (p.Thr331Asn)
18g.33743876C=CA2294857883ASXL3c.4031C= (p.Thr1344=)
c.4028C= (p.Thr1343=)
c.3908C= (p.Thr1303=)
c.4004C= (p.Thr1335=)
c.3950C= (p.Thr1317=)
c.3911C= (p.Thr1304=)
c.3860C= (p.Thr1287=)
c.992C= (p.Thr331=)
18g.33743876C>GCA402189588ASXL3c.4031C>G (p.Thr1344Ser)
c.4028C>G (p.Thr1343Ser)
c.3908C>G (p.Thr1303Ser)
c.4004C>G (p.Thr1335Ser)
c.3950C>G (p.Thr1317Ser)
c.3911C>G (p.Thr1304Ser)
c.3860C>G (p.Thr1287Ser)
c.992C>G (p.Thr331Ser)
dbSNP
18g.33743876C>TCA402189590ASXL3c.4031C>T (p.Thr1344Ile)
c.4028C>T (p.Thr1343Ile)
c.3908C>T (p.Thr1303Ile)
c.4004C>T (p.Thr1335Ile)
c.3950C>T (p.Thr1317Ile)
c.3911C>T (p.Thr1304Ile)
c.3860C>T (p.Thr1287Ile)
c.992C>T (p.Thr331Ile)
dbSNP gnomAD v4
18g.33743877T>ACA503770408ASXL3c.4032T>A (p.Thr1344=)
c.4029T>A (p.Thr1343=)
c.3909T>A (p.Thr1303=)
c.4005T>A (p.Thr1335=)
c.3951T>A (p.Thr1317=)
c.3912T>A (p.Thr1304=)
c.3861T>A (p.Thr1287=)
c.993T>A (p.Thr331=)
18g.33743877T>CCA503770410ASXL3c.4032T>C (p.Thr1344=)
c.4029T>C (p.Thr1343=)
c.3909T>C (p.Thr1303=)
c.4005T>C (p.Thr1335=)
c.3951T>C (p.Thr1317=)
c.3912T>C (p.Thr1304=)
c.3861T>C (p.Thr1287=)
c.993T>C (p.Thr331=)
18g.33743877T>GCA503770409ASXL3c.4032T>G (p.Thr1344=)
c.4029T>G (p.Thr1343=)
c.3909T>G (p.Thr1303=)
c.4005T>G (p.Thr1335=)
c.3951T>G (p.Thr1317=)
c.3912T>G (p.Thr1304=)
c.3861T>G (p.Thr1287=)
c.993T>G (p.Thr331=)
18g.33743878C>ACA402189600ASXL3c.4033C>A (p.Pro1345Thr)
c.4030C>A (p.Pro1344Thr)
c.3910C>A (p.Pro1304Thr)
c.4006C>A (p.Pro1336Thr)
c.3952C>A (p.Pro1318Thr)
c.3913C>A (p.Pro1305Thr)
c.3862C>A (p.Pro1288Thr)
c.994C>A (p.Pro332Thr)
gnomAD v4
18g.33743878C>GCA402189607ASXL3c.4033C>G (p.Pro1345Ala)
c.4030C>G (p.Pro1344Ala)
c.3910C>G (p.Pro1304Ala)
c.4006C>G (p.Pro1336Ala)
c.3952C>G (p.Pro1318Ala)
c.3913C>G (p.Pro1305Ala)
c.3862C>G (p.Pro1288Ala)
c.994C>G (p.Pro332Ala)
18g.33743878C>TCA402189597ASXL3c.4033C>T (p.Pro1345Ser)
c.4030C>T (p.Pro1344Ser)
c.3910C>T (p.Pro1304Ser)
c.4006C>T (p.Pro1336Ser)
c.3952C>T (p.Pro1318Ser)
c.3913C>T (p.Pro1305Ser)
c.3862C>T (p.Pro1288Ser)
c.994C>T (p.Pro332Ser)
18g.33743879C>ACA402189610ASXL3c.4034C>A (p.Pro1345His)
c.4031C>A (p.Pro1344His)
c.3911C>A (p.Pro1304His)
c.4007C>A (p.Pro1336His)
c.3953C>A (p.Pro1318His)
c.3914C>A (p.Pro1305His)
c.3863C>A (p.Pro1288His)
c.995C>A (p.Pro332His)
18g.33743879C>GCA402189612ASXL3c.4034C>G (p.Pro1345Arg)
c.4031C>G (p.Pro1344Arg)
c.3911C>G (p.Pro1304Arg)
c.4007C>G (p.Pro1336Arg)
c.3953C>G (p.Pro1318Arg)
c.3914C>G (p.Pro1305Arg)
c.3863C>G (p.Pro1288Arg)
c.995C>G (p.Pro332Arg)
18g.33743879C>TCA402189615ASXL3c.4034C>T (p.Pro1345Leu)
c.4031C>T (p.Pro1344Leu)
c.3911C>T (p.Pro1304Leu)
c.4007C>T (p.Pro1336Leu)
c.3953C>T (p.Pro1318Leu)
c.3914C>T (p.Pro1305Leu)
c.3863C>T (p.Pro1288Leu)
c.995C>T (p.Pro332Leu)
gnomAD v4
18g.33743880C>ACA503770415ASXL3c.4035C>A (p.Pro1345=)
c.4032C>A (p.Pro1344=)
c.3912C>A (p.Pro1304=)
c.4008C>A (p.Pro1336=)
c.3954C>A (p.Pro1318=)
c.3915C>A (p.Pro1305=)
c.3864C>A (p.Pro1288=)
c.996C>A (p.Pro332=)
18g.33743880C=CA2294857884ASXL3c.4035C= (p.Pro1345=)
c.4032C= (p.Pro1344=)
c.3912C= (p.Pro1304=)
c.4008C= (p.Pro1336=)
c.3954C= (p.Pro1318=)
c.3915C= (p.Pro1305=)
c.3864C= (p.Pro1288=)
c.996C= (p.Pro332=)
18g.33743880C>GCA503770416ASXL3c.4035C>G (p.Pro1345=)
c.4032C>G (p.Pro1344=)
c.3912C>G (p.Pro1304=)
c.4008C>G (p.Pro1336=)
c.3954C>G (p.Pro1318=)
c.3915C>G (p.Pro1305=)
c.3864C>G (p.Pro1288=)
c.996C>G (p.Pro332=)
dbSNP gnomAD v2 gnomAD v4
18g.33743880C>TCA503770417ASXL3c.4035C>T (p.Pro1345=)
c.4032C>T (p.Pro1344=)
c.3912C>T (p.Pro1304=)
c.4008C>T (p.Pro1336=)
c.3954C>T (p.Pro1318=)
c.3915C>T (p.Pro1305=)
c.3864C>T (p.Pro1288=)
c.996C>T (p.Pro332=)
18g.33743881T>ACA402189620ASXL3c.4036T>A (p.Ser1346Thr)
c.4033T>A (p.Ser1345Thr)
c.3913T>A (p.Ser1305Thr)
c.4009T>A (p.Ser1337Thr)
c.3955T>A (p.Ser1319Thr)
c.3916T>A (p.Ser1306Thr)
c.3865T>A (p.Ser1289Thr)
c.997T>A (p.Ser333Thr)
18g.33743881T>CCA402189623ASXL3c.4036T>C (p.Ser1346Pro)
c.4033T>C (p.Ser1345Pro)
c.3913T>C (p.Ser1305Pro)
c.4009T>C (p.Ser1337Pro)
c.3955T>C (p.Ser1319Pro)
c.3916T>C (p.Ser1306Pro)
c.3865T>C (p.Ser1289Pro)
c.997T>C (p.Ser333Pro)
18g.33743881T>GCA402189626ASXL3c.4036T>G (p.Ser1346Ala)
c.4033T>G (p.Ser1345Ala)
c.3913T>G (p.Ser1305Ala)
c.4009T>G (p.Ser1337Ala)
c.3955T>G (p.Ser1319Ala)
c.3916T>G (p.Ser1306Ala)
c.3865T>G (p.Ser1289Ala)
c.997T>G (p.Ser333Ala)
18g.33743882C>ACA402189630ASXL3c.4037C>A (p.Ser1346Tyr)
c.4034C>A (p.Ser1345Tyr)
c.3914C>A (p.Ser1305Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3956C>A (p.Ser1319Tyr)
c.3917C>A (p.Ser1306Tyr)
c.3866C>A (p.Ser1289Tyr)
c.998C>A (p.Ser333Tyr)
18g.33743882C=CA2294857885ASXL3c.4037C= (p.Ser1346=)
c.4034C= (p.Ser1345=)
c.3914C= (p.Ser1305=)
c.4010C= (p.Ser1337=)
c.3956C= (p.Ser1319=)
c.3917C= (p.Ser1306=)
c.3866C= (p.Ser1289=)
c.998C= (p.Ser333=)
18g.33743882C>GCA402189633ASXL3c.4037C>G (p.Ser1346Cys)
c.4034C>G (p.Ser1345Cys)
c.3914C>G (p.Ser1305Cys)
c.4010C>G (p.Ser1337Cys)
c.3956C>G (p.Ser1319Cys)
c.3917C>G (p.Ser1306Cys)
c.3866C>G (p.Ser1289Cys)
c.998C>G (p.Ser333Cys)
gnomAD v4
18g.33743882C>TCA402189637ASXL3c.4037C>T (p.Ser1346Phe)
c.4034C>T (p.Ser1345Phe)
c.3914C>T (p.Ser1305Phe)
c.4010C>T (p.Ser1337Phe)
c.3956C>T (p.Ser1319Phe)
c.3917C>T (p.Ser1306Phe)
c.3866C>T (p.Ser1289Phe)
c.998C>T (p.Ser333Phe)
dbSNP gnomAD v2 gnomAD v4
18g.33743883C>ACA503770427ASXL3c.4038C>A (p.Ser1346=)
c.4035C>A (p.Ser1345=)
c.3915C>A (p.Ser1305=)
c.4011C>A (p.Ser1337=)
c.3957C>A (p.Ser1319=)
c.3918C>A (p.Ser1306=)
c.3867C>A (p.Ser1289=)
c.999C>A (p.Ser333=)
18g.33743883C=CA2294857886ASXL3c.4038C= (p.Ser1346=)
c.4035C= (p.Ser1345=)
c.3915C= (p.Ser1305=)
c.4011C= (p.Ser1337=)
c.3957C= (p.Ser1319=)
c.3918C= (p.Ser1306=)
c.3867C= (p.Ser1289=)
c.999C= (p.Ser333=)
18g.33743883C>GCA503770428ASXL3c.4038C>G (p.Ser1346=)
c.4035C>G (p.Ser1345=)
c.3915C>G (p.Ser1305=)
c.4011C>G (p.Ser1337=)
c.3957C>G (p.Ser1319=)
c.3918C>G (p.Ser1306=)
c.3867C>G (p.Ser1289=)
c.999C>G (p.Ser333=)
dbSNP gnomAD v2 gnomAD v4
18g.33743883C>TCA503770429ASXL3c.4038C>T (p.Ser1346=)
c.4035C>T (p.Ser1345=)
c.3915C>T (p.Ser1305=)
c.4011C>T (p.Ser1337=)
c.3957C>T (p.Ser1319=)
c.3918C>T (p.Ser1306=)
c.3867C>T (p.Ser1289=)
c.999C>T (p.Ser333=)
gnomAD v4
18g.33743884A=CA2294857887ASXL3c.4039A= (p.Ile1347=)
c.4036A= (p.Ile1346=)
c.3916A= (p.Ile1306=)
c.4012A= (p.Ile1338=)
c.3958A= (p.Ile1320=)
c.3919A= (p.Ile1307=)
c.3868A= (p.Ile1290=)
c.1000A= (p.Ile334=)
18g.33743884A>CCA8934162ASXL3c.4039A>C (p.Ile1347Leu)
c.4036A>C (p.Ile1346Leu)
c.3916A>C (p.Ile1306Leu)
c.4012A>C (p.Ile1338Leu)
c.3958A>C (p.Ile1320Leu)
c.3919A>C (p.Ile1307Leu)
c.3868A>C (p.Ile1290Leu)
c.1000A>C (p.Ile334Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743884A>GCA8934161ASXL3c.4039A>G (p.Ile1347Val)
c.4036A>G (p.Ile1346Val)
c.3916A>G (p.Ile1306Val)
c.4012A>G (p.Ile1338Val)
c.3958A>G (p.Ile1320Val)
c.3919A>G (p.Ile1307Val)
c.3868A>G (p.Ile1290Val)
c.1000A>G (p.Ile334Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743884A>TCA402189642ASXL3c.4039A>T (p.Ile1347Phe)
c.4036A>T (p.Ile1346Phe)
c.3916A>T (p.Ile1306Phe)
c.4012A>T (p.Ile1338Phe)
c.3958A>T (p.Ile1320Phe)
c.3919A>T (p.Ile1307Phe)
c.3868A>T (p.Ile1290Phe)
c.1000A>T (p.Ile334Phe)
18g.33743885T>ACA402189649ASXL3c.4040T>A (p.Ile1347Asn)
c.4037T>A (p.Ile1346Asn)
c.3917T>A (p.Ile1306Asn)
c.4013T>A (p.Ile1338Asn)
c.3959T>A (p.Ile1320Asn)
c.3920T>A (p.Ile1307Asn)
c.3869T>A (p.Ile1290Asn)
c.1001T>A (p.Ile334Asn)
18g.33743885T>CCA402189651ASXL3c.4040T>C (p.Ile1347Thr)
c.4037T>C (p.Ile1346Thr)
c.3917T>C (p.Ile1306Thr)
c.4013T>C (p.Ile1338Thr)
c.3959T>C (p.Ile1320Thr)
c.3920T>C (p.Ile1307Thr)
c.3869T>C (p.Ile1290Thr)
c.1001T>C (p.Ile334Thr)
18g.33743885T>GCA402189645ASXL3c.4040T>G (p.Ile1347Ser)
c.4037T>G (p.Ile1346Ser)
c.3917T>G (p.Ile1306Ser)
c.4013T>G (p.Ile1338Ser)
c.3959T>G (p.Ile1320Ser)
c.3920T>G (p.Ile1307Ser)
c.3869T>G (p.Ile1290Ser)
c.1001T>G (p.Ile334Ser)
18g.33743886C>ACA503770435ASXL3c.4041C>A (p.Ile1347=)
c.4038C>A (p.Ile1346=)
c.3918C>A (p.Ile1306=)
c.4014C>A (p.Ile1338=)
c.3960C>A (p.Ile1320=)
c.3921C>A (p.Ile1307=)
c.3870C>A (p.Ile1290=)
c.1002C>A (p.Ile334=)
gnomAD v4
18g.33743886C=CA2294857888ASXL3c.4041C= (p.Ile1347=)
c.4038C= (p.Ile1346=)
c.3918C= (p.Ile1306=)
c.4014C= (p.Ile1338=)
c.3960C= (p.Ile1320=)
c.3921C= (p.Ile1307=)
c.3870C= (p.Ile1290=)
c.1002C= (p.Ile334=)
18g.33743886C>GCA402189654ASXL3c.4041C>G (p.Ile1347Met)
c.4038C>G (p.Ile1346Met)
c.3918C>G (p.Ile1306Met)
c.4014C>G (p.Ile1338Met)
c.3960C>G (p.Ile1320Met)
c.3921C>G (p.Ile1307Met)
c.3870C>G (p.Ile1290Met)
c.1002C>G (p.Ile334Met)
18g.33743886C>TCA8934163ASXL3c.4041C>T (p.Ile1347=)
c.4038C>T (p.Ile1346=)
c.3918C>T (p.Ile1306=)
c.4014C>T (p.Ile1338=)
c.3960C>T (p.Ile1320=)
c.3921C>T (p.Ile1307=)
c.3870C>T (p.Ile1290=)
c.1002C>T (p.Ile334=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743887G>ACA297793313ASXL3c.4042G>A (p.Gly1348Arg)
c.4039G>A (p.Gly1347Arg)
c.3919G>A (p.Gly1307Arg)
c.4015G>A (p.Gly1339Arg)
c.3961G>A (p.Gly1321Arg)
c.3922G>A (p.Gly1308Arg)
c.3871G>A (p.Gly1291Arg)
c.1003G>A (p.Gly335Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743887G>CCA402189664ASXL3c.4042G>C (p.Gly1348Arg)
c.4039G>C (p.Gly1347Arg)
c.3919G>C (p.Gly1307Arg)
c.4015G>C (p.Gly1339Arg)
c.3961G>C (p.Gly1321Arg)
c.3922G>C (p.Gly1308Arg)
c.3871G>C (p.Gly1291Arg)
c.1003G>C (p.Gly335Arg)
18g.33743887G=CA2294857889ASXL3c.4042G= (p.Gly1348=)
c.4039G= (p.Gly1347=)
c.3919G= (p.Gly1307=)
c.4015G= (p.Gly1339=)
c.3961G= (p.Gly1321=)
c.3922G= (p.Gly1308=)
c.3871G= (p.Gly1291=)
c.1003G= (p.Gly335=)
18g.33743887G>TCA402189668ASXL3c.4042G>T (p.Gly1348Ter)
c.4039G>T (p.Gly1347Ter)
c.3919G>T (p.Gly1307Ter)
c.4015G>T (p.Gly1339Ter)
c.3961G>T (p.Gly1321Ter)
c.3922G>T (p.Gly1308Ter)
c.3871G>T (p.Gly1291Ter)
c.1003G>T (p.Gly335Ter)
18g.33743888G>ACA402189677ASXL3c.4043G>A (p.Gly1348Glu)
c.4040G>A (p.Gly1347Glu)
c.3920G>A (p.Gly1307Glu)
c.4016G>A (p.Gly1339Glu)
c.3962G>A (p.Gly1321Glu)
c.3923G>A (p.Gly1308Glu)
c.3872G>A (p.Gly1291Glu)
c.1004G>A (p.Gly335Glu)
dbSNP
18g.33743888G>CCA402189673ASXL3c.4043G>C (p.Gly1348Ala)
c.4040G>C (p.Gly1347Ala)
c.3920G>C (p.Gly1307Ala)
c.4016G>C (p.Gly1339Ala)
c.3962G>C (p.Gly1321Ala)
c.3923G>C (p.Gly1308Ala)
c.3872G>C (p.Gly1291Ala)
c.1004G>C (p.Gly335Ala)
18g.33743888G>TCA402189675ASXL3c.4043G>T (p.Gly1348Val)
c.4040G>T (p.Gly1347Val)
c.3920G>T (p.Gly1307Val)
c.4016G>T (p.Gly1339Val)
c.3962G>T (p.Gly1321Val)
c.3923G>T (p.Gly1308Val)
c.3872G>T (p.Gly1291Val)
c.1004G>T (p.Gly335Val)
18g.33743889A=CA2294857890ASXL3c.4044A= (p.Gly1348=)
c.4041A= (p.Gly1347=)
c.3921A= (p.Gly1307=)
c.4017A= (p.Gly1339=)
c.3963A= (p.Gly1321=)
c.3924A= (p.Gly1308=)
c.3873A= (p.Gly1291=)
c.1005A= (p.Gly335=)
18g.33743889A>CCA503770451ASXL3c.4044A>C (p.Gly1348=)
c.4041A>C (p.Gly1347=)
c.3921A>C (p.Gly1307=)
c.4017A>C (p.Gly1339=)
c.3963A>C (p.Gly1321=)
c.3924A>C (p.Gly1308=)
c.3873A>C (p.Gly1291=)
c.1005A>C (p.Gly335=)
18g.33743889A>GCA503770453ASXL3c.4044A>G (p.Gly1348=)
c.4041A>G (p.Gly1347=)
c.3921A>G (p.Gly1307=)
c.4017A>G (p.Gly1339=)
c.3963A>G (p.Gly1321=)
c.3924A>G (p.Gly1308=)
c.3873A>G (p.Gly1291=)
c.1005A>G (p.Gly335=)
18g.33743889A>TCA503770454ASXL3c.4044A>T (p.Gly1348=)
c.4041A>T (p.Gly1347=)
c.3921A>T (p.Gly1307=)
c.4017A>T (p.Gly1339=)
c.3963A>T (p.Gly1321=)
c.3924A>T (p.Gly1308=)
c.3873A>T (p.Gly1291=)
c.1005A>T (p.Gly335=)
dbSNP
18g.33743890A>CCA402189681ASXL3c.4045A>C (p.Asn1349His)
c.4042A>C (p.Asn1348His)
c.3922A>C (p.Asn1308His)
c.4018A>C (p.Asn1340His)
c.3964A>C (p.Asn1322His)
c.3925A>C (p.Asn1309His)
c.3874A>C (p.Asn1292His)
c.1006A>C (p.Asn336His)
18g.33743890A>GCA402189693ASXL3c.4045A>G (p.Asn1349Asp)
c.4042A>G (p.Asn1348Asp)
c.3922A>G (p.Asn1308Asp)
c.4018A>G (p.Asn1340Asp)
c.3964A>G (p.Asn1322Asp)
c.3925A>G (p.Asn1309Asp)
c.3874A>G (p.Asn1292Asp)
c.1006A>G (p.Asn336Asp)
18g.33743890A>TCA402189697ASXL3c.4045A>T (p.Asn1349Tyr)
c.4042A>T (p.Asn1348Tyr)
c.3922A>T (p.Asn1308Tyr)
c.4018A>T (p.Asn1340Tyr)
c.3964A>T (p.Asn1322Tyr)
c.3925A>T (p.Asn1309Tyr)
c.3874A>T (p.Asn1292Tyr)
c.1006A>T (p.Asn336Tyr)
18g.33743891A>CCA402189702ASXL3c.4046A>C (p.Asn1349Thr)
c.4043A>C (p.Asn1348Thr)
c.3923A>C (p.Asn1308Thr)
c.4019A>C (p.Asn1340Thr)
c.3965A>C (p.Asn1322Thr)
c.3926A>C (p.Asn1309Thr)
c.3875A>C (p.Asn1292Thr)
c.1007A>C (p.Asn336Thr)
18g.33743891A>GCA402189705ASXL3c.4046A>G (p.Asn1349Ser)
c.4043A>G (p.Asn1348Ser)
c.3923A>G (p.Asn1308Ser)
c.4019A>G (p.Asn1340Ser)
c.3965A>G (p.Asn1322Ser)
c.3926A>G (p.Asn1309Ser)
c.3875A>G (p.Asn1292Ser)
c.1007A>G (p.Asn336Ser)
gnomAD v4
18g.33743891A>TCA402189708ASXL3c.4046A>T (p.Asn1349Ile)
c.4043A>T (p.Asn1348Ile)
c.3923A>T (p.Asn1308Ile)
c.4019A>T (p.Asn1340Ile)
c.3965A>T (p.Asn1322Ile)
c.3926A>T (p.Asn1309Ile)
c.3875A>T (p.Asn1292Ile)
c.1007A>T (p.Asn336Ile)
18g.33743892_33743893delCA913015111ASXL3c.4047_4048del (p.Asn1349LysfsTer8)
c.4044_4045del (p.Asn1348LysfsTer8)
c.3924_3925del (p.Asn1308LysfsTer8)
c.4020_4021del (p.Asn1340LysfsTer8)
c.3966_3967del (p.Asn1322LysfsTer8)
c.3927_3928del (p.Asn1309LysfsTer8)
c.3876_3877del (p.Asn1292LysfsTer8)
c.1008_1009del (p.Asn336LysfsTer8)
18g.33743892C>ACA402189714ASXL3c.4047C>A (p.Asn1349Lys)
c.4044C>A (p.Asn1348Lys)
c.3924C>A (p.Asn1308Lys)
c.4020C>A (p.Asn1340Lys)
c.3966C>A (p.Asn1322Lys)
c.3927C>A (p.Asn1309Lys)
c.3876C>A (p.Asn1292Lys)
c.1008C>A (p.Asn336Lys)
18g.33743892C>GCA402189711ASXL3c.4047C>G (p.Asn1349Lys)
c.4044C>G (p.Asn1348Lys)
c.3924C>G (p.Asn1308Lys)
c.4020C>G (p.Asn1340Lys)
c.3966C>G (p.Asn1322Lys)
c.3927C>G (p.Asn1309Lys)
c.3876C>G (p.Asn1292Lys)
c.1008C>G (p.Asn336Lys)
18g.33743892C>TCA503770465ASXL3c.4047C>T (p.Asn1349=)
c.4044C>T (p.Asn1348=)
c.3924C>T (p.Asn1308=)
c.4020C>T (p.Asn1340=)
c.3966C>T (p.Asn1322=)
c.3927C>T (p.Asn1309=)
c.3876C>T (p.Asn1292=)
c.1008C>T (p.Asn336=)
18g.33743893A>CCA402189719ASXL3c.4048A>C (p.Asn1350His)
c.4045A>C (p.Asn1349His)
c.3925A>C (p.Asn1309His)
c.4021A>C (p.Asn1341His)
c.3967A>C (p.Asn1323His)
c.3928A>C (p.Asn1310His)
c.3877A>C (p.Asn1293His)
c.1009A>C (p.Asn337His)
18g.33743893A>GCA402189724ASXL3c.4048A>G (p.Asn1350Asp)
c.4045A>G (p.Asn1349Asp)
c.3925A>G (p.Asn1309Asp)
c.4021A>G (p.Asn1341Asp)
c.3967A>G (p.Asn1323Asp)
c.3928A>G (p.Asn1310Asp)
c.3877A>G (p.Asn1293Asp)
c.1009A>G (p.Asn337Asp)
18g.33743893A>TCA402189722ASXL3c.4048A>T (p.Asn1350Tyr)
c.4045A>T (p.Asn1349Tyr)
c.3925A>T (p.Asn1309Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3967A>T (p.Asn1323Tyr)
c.3928A>T (p.Asn1310Tyr)
c.3877A>T (p.Asn1293Tyr)
c.1009A>T (p.Asn337Tyr)
18g.33743894A>CCA402189728ASXL3c.4049A>C (p.Asn1350Thr)
c.4046A>C (p.Asn1349Thr)
c.3926A>C (p.Asn1309Thr)
c.4022A>C (p.Asn1341Thr)
c.3968A>C (p.Asn1323Thr)
c.3929A>C (p.Asn1310Thr)
c.3878A>C (p.Asn1293Thr)
c.1010A>C (p.Asn337Thr)
gnomAD v4
18g.33743894A>GCA402189730ASXL3c.4049A>G (p.Asn1350Ser)
c.4046A>G (p.Asn1349Ser)
c.3926A>G (p.Asn1309Ser)
c.4022A>G (p.Asn1341Ser)
c.3968A>G (p.Asn1323Ser)
c.3929A>G (p.Asn1310Ser)
c.3878A>G (p.Asn1293Ser)
c.1010A>G (p.Asn337Ser)
gnomAD v4
18g.33743894A>TCA402189731ASXL3c.4049A>T (p.Asn1350Ile)
c.4046A>T (p.Asn1349Ile)
c.3926A>T (p.Asn1309Ile)
c.4022A>T (p.Asn1341Ile)
c.3968A>T (p.Asn1323Ile)
c.3929A>T (p.Asn1310Ile)
c.3878A>T (p.Asn1293Ile)
c.1010A>T (p.Asn337Ile)
18g.33743895T>ACA402189735ASXL3c.4050T>A (p.Asn1350Lys)
c.4047T>A (p.Asn1349Lys)
c.3927T>A (p.Asn1309Lys)
c.4023T>A (p.Asn1341Lys)
c.3969T>A (p.Asn1323Lys)
c.3930T>A (p.Asn1310Lys)
c.3879T>A (p.Asn1293Lys)
c.1011T>A (p.Asn337Lys)
18g.33743895T>CCA503770480ASXL3c.4050T>C (p.Asn1350=)
c.4047T>C (p.Asn1349=)
c.3927T>C (p.Asn1309=)
c.4023T>C (p.Asn1341=)
c.3969T>C (p.Asn1323=)
c.3930T>C (p.Asn1310=)
c.3879T>C (p.Asn1293=)
c.1011T>C (p.Asn337=)
dbSNP gnomAD v3 gnomAD v4
18g.33743895T>GCA402189738ASXL3c.4050T>G (p.Asn1350Lys)
c.4047T>G (p.Asn1349Lys)
c.3927T>G (p.Asn1309Lys)
c.4023T>G (p.Asn1341Lys)
c.3969T>G (p.Asn1323Lys)
c.3930T>G (p.Asn1310Lys)
c.3879T>G (p.Asn1293Lys)
c.1011T>G (p.Asn337Lys)
18g.33743895T=CA2294857891ASXL3c.4050T= (p.Asn1350=)
c.4047T= (p.Asn1349=)
c.3927T= (p.Asn1309=)
c.4023T= (p.Asn1341=)
c.3969T= (p.Asn1323=)
c.3930T= (p.Asn1310=)
c.3879T= (p.Asn1293=)
c.1011T= (p.Asn337=)
18g.33743896T>ACA402189743ASXL3c.4051T>A (p.Leu1351Met)
c.4048T>A (p.Leu1350Met)
c.3928T>A (p.Leu1310Met)
c.4024T>A (p.Leu1342Met)
c.3970T>A (p.Leu1324Met)
c.3931T>A (p.Leu1311Met)
c.3880T>A (p.Leu1294Met)
c.1012T>A (p.Leu338Met)
18g.33743896T>CCA503770485ASXL3c.4051T>C (p.Leu1351=)
c.4048T>C (p.Leu1350=)
c.3928T>C (p.Leu1310=)
c.4024T>C (p.Leu1342=)
c.3970T>C (p.Leu1324=)
c.3931T>C (p.Leu1311=)
c.3880T>C (p.Leu1294=)
c.1012T>C (p.Leu338=)
18g.33743896T>GCA402189745ASXL3c.4051T>G (p.Leu1351Val)
c.4048T>G (p.Leu1350Val)
c.3928T>G (p.Leu1310Val)
c.4024T>G (p.Leu1342Val)
c.3970T>G (p.Leu1324Val)
c.3931T>G (p.Leu1311Val)
c.3880T>G (p.Leu1294Val)
c.1012T>G (p.Leu338Val)
18g.33743897T>ACA402189750ASXL3c.4052T>A (p.Leu1351Ter)
c.4049T>A (p.Leu1350Ter)
c.3929T>A (p.Leu1310Ter)
c.4025T>A (p.Leu1342Ter)
c.3971T>A (p.Leu1324Ter)
c.3932T>A (p.Leu1311Ter)
c.3881T>A (p.Leu1294Ter)
c.1013T>A (p.Leu338Ter)
18g.33743897T>CCA402189753ASXL3c.4052T>C (p.Leu1351Ser)
c.4049T>C (p.Leu1350Ser)
c.3929T>C (p.Leu1310Ser)
c.4025T>C (p.Leu1342Ser)
c.3971T>C (p.Leu1324Ser)
c.3932T>C (p.Leu1311Ser)
c.3881T>C (p.Leu1294Ser)
c.1013T>C (p.Leu338Ser)
18g.33743897T>GCA402189755ASXL3c.4052T>G (p.Leu1351Trp)
c.4049T>G (p.Leu1350Trp)
c.3929T>G (p.Leu1310Trp)
c.4025T>G (p.Leu1342Trp)
c.3971T>G (p.Leu1324Trp)
c.3932T>G (p.Leu1311Trp)
c.3881T>G (p.Leu1294Trp)
c.1013T>G (p.Leu338Trp)

Number of alleles fetched