Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436531T>ACA510467415ASXL1c.3819T>A (p.Arg1273=)
c.3636T>A (p.Arg1212=)
n.6172T>A
c.1870-1899T>A (n.1870-1899T>A)
c.3804T>A (p.Arg1268=)
c.3816T>A (p.Arg1272=)
c.3789T>A (p.Arg1263=)
c.3735T>A (p.Arg1245=)
c.3135T>A (p.Arg1045=)
c.4083T>A (p.Arg1361=)
c.4080T>A (p.Arg1360=)
c.3999T>A (p.Arg1333=)
c.3930T>A (p.Arg1310=)
c.3798T>A (p.Arg1266=)
c.3666T>A (p.Arg1222=)
20g.32436531T>CCA510467413ASXL1c.3819T>C (p.Arg1273=)
c.3636T>C (p.Arg1212=)
n.6172T>C
c.1870-1899T>C (n.1870-1899T>C)
c.3804T>C (p.Arg1268=)
c.3816T>C (p.Arg1272=)
c.3789T>C (p.Arg1263=)
c.3735T>C (p.Arg1245=)
c.3135T>C (p.Arg1045=)
c.4083T>C (p.Arg1361=)
c.4080T>C (p.Arg1360=)
c.3999T>C (p.Arg1333=)
c.3930T>C (p.Arg1310=)
c.3798T>C (p.Arg1266=)
c.3666T>C (p.Arg1222=)
20g.32436531T>GCA510467412ASXL1c.3819T>G (p.Arg1273=)
c.3636T>G (p.Arg1212=)
n.6172T>G
c.1870-1899T>G (n.1870-1899T>G)
c.3804T>G (p.Arg1268=)
c.3816T>G (p.Arg1272=)
c.3789T>G (p.Arg1263=)
c.3735T>G (p.Arg1245=)
c.3135T>G (p.Arg1045=)
c.4083T>G (p.Arg1361=)
c.4080T>G (p.Arg1360=)
c.3999T>G (p.Arg1333=)
c.3930T>G (p.Arg1310=)
c.3798T>G (p.Arg1266=)
c.3666T>G (p.Arg1222=)
20g.32436533delCA2577366330ASXL1c.3821del (p.Phe1274SerfsTer6)
c.3638del (p.Phe1213SerfsTer6)
n.6174del
c.1870-1897del (n.1870-1897del)
c.3806del (p.Phe1269SerfsTer6)
c.3818del (p.Phe1273SerfsTer6)
c.3791del (p.Phe1264SerfsTer6)
c.3737del (p.Phe1246SerfsTer6)
c.3137del (p.Phe1046SerfsTer6)
c.4085del (p.Phe1362SerfsTer6)
c.4082del (p.Phe1361SerfsTer6)
c.4001del (p.Phe1334SerfsTer6)
c.3932del (p.Phe1311SerfsTer6)
c.3800del (p.Phe1267SerfsTer6)
c.3668del (p.Phe1223SerfsTer6)
20g.32436532T>ACA408563860ASXL1c.3820T>A (p.Phe1274Ile)
c.3637T>A (p.Phe1213Ile)
n.6173T>A
c.1870-1898T>A (n.1870-1898T>A)
c.3805T>A (p.Phe1269Ile)
c.3817T>A (p.Phe1273Ile)
c.3790T>A (p.Phe1264Ile)
c.3736T>A (p.Phe1246Ile)
c.3136T>A (p.Phe1046Ile)
c.4084T>A (p.Phe1362Ile)
c.4081T>A (p.Phe1361Ile)
c.4000T>A (p.Phe1334Ile)
c.3931T>A (p.Phe1311Ile)
c.3799T>A (p.Phe1267Ile)
c.3667T>A (p.Phe1223Ile)
20g.32436532T>CCA408563861ASXL1c.3820T>C (p.Phe1274Leu)
c.3637T>C (p.Phe1213Leu)
n.6173T>C
c.1870-1898T>C (n.1870-1898T>C)
c.3805T>C (p.Phe1269Leu)
c.3817T>C (p.Phe1273Leu)
c.3790T>C (p.Phe1264Leu)
c.3736T>C (p.Phe1246Leu)
c.3136T>C (p.Phe1046Leu)
c.4084T>C (p.Phe1362Leu)
c.4081T>C (p.Phe1361Leu)
c.4000T>C (p.Phe1334Leu)
c.3931T>C (p.Phe1311Leu)
c.3799T>C (p.Phe1267Leu)
c.3667T>C (p.Phe1223Leu)
20g.32436532T>GCA408563862ASXL1c.3820T>G (p.Phe1274Val)
c.3637T>G (p.Phe1213Val)
n.6173T>G
c.1870-1898T>G (n.1870-1898T>G)
c.3805T>G (p.Phe1269Val)
c.3817T>G (p.Phe1273Val)
c.3790T>G (p.Phe1264Val)
c.3736T>G (p.Phe1246Val)
c.3136T>G (p.Phe1046Val)
c.4084T>G (p.Phe1362Val)
c.4081T>G (p.Phe1361Val)
c.4000T>G (p.Phe1334Val)
c.3931T>G (p.Phe1311Val)
c.3799T>G (p.Phe1267Val)
c.3667T>G (p.Phe1223Val)
20g.32436533T>ACA408563863ASXL1c.3821T>A (p.Phe1274Tyr)
c.3638T>A (p.Phe1213Tyr)
n.6174T>A
c.1870-1897T>A (n.1870-1897T>A)
c.3806T>A (p.Phe1269Tyr)
c.3818T>A (p.Phe1273Tyr)
c.3791T>A (p.Phe1264Tyr)
c.3737T>A (p.Phe1246Tyr)
c.3137T>A (p.Phe1046Tyr)
c.4085T>A (p.Phe1362Tyr)
c.4082T>A (p.Phe1361Tyr)
c.4001T>A (p.Phe1334Tyr)
c.3932T>A (p.Phe1311Tyr)
c.3800T>A (p.Phe1267Tyr)
c.3668T>A (p.Phe1223Tyr)
20g.32436533T>CCA408563864ASXL1c.3821T>C (p.Phe1274Ser)
c.3638T>C (p.Phe1213Ser)
n.6174T>C
c.1870-1897T>C (n.1870-1897T>C)
c.3806T>C (p.Phe1269Ser)
c.3818T>C (p.Phe1273Ser)
c.3791T>C (p.Phe1264Ser)
c.3737T>C (p.Phe1246Ser)
c.3137T>C (p.Phe1046Ser)
c.4085T>C (p.Phe1362Ser)
c.4082T>C (p.Phe1361Ser)
c.4001T>C (p.Phe1334Ser)
c.3932T>C (p.Phe1311Ser)
c.3800T>C (p.Phe1267Ser)
c.3668T>C (p.Phe1223Ser)
20g.32436533T>GCA408563865ASXL1c.3821T>G (p.Phe1274Cys)
c.3638T>G (p.Phe1213Cys)
n.6174T>G
c.1870-1897T>G (n.1870-1897T>G)
c.3806T>G (p.Phe1269Cys)
c.3818T>G (p.Phe1273Cys)
c.3791T>G (p.Phe1264Cys)
c.3737T>G (p.Phe1246Cys)
c.3137T>G (p.Phe1046Cys)
c.4085T>G (p.Phe1362Cys)
c.4082T>G (p.Phe1361Cys)
c.4001T>G (p.Phe1334Cys)
c.3932T>G (p.Phe1311Cys)
c.3800T>G (p.Phe1267Cys)
c.3668T>G (p.Phe1223Cys)
20g.32436534C>ACA408563866ASXL1c.3822C>A (p.Phe1274Leu)
c.3639C>A (p.Phe1213Leu)
n.6175C>A
c.1870-1896C>A (n.1870-1896C>A)
c.3807C>A (p.Phe1269Leu)
c.3819C>A (p.Phe1273Leu)
c.3792C>A (p.Phe1264Leu)
c.3738C>A (p.Phe1246Leu)
c.3138C>A (p.Phe1046Leu)
c.4086C>A (p.Phe1362Leu)
c.4083C>A (p.Phe1361Leu)
c.4002C>A (p.Phe1334Leu)
c.3933C>A (p.Phe1311Leu)
c.3801C>A (p.Phe1267Leu)
c.3669C>A (p.Phe1223Leu)
 dbSNP
20g.32436534C=CA2360293755ASXL1c.3822C= (p.Phe1274=)
c.3639C= (p.Phe1213=)
n.6175C=
c.1870-1896C= (n.1870-1896C=)
c.3807C= (p.Phe1269=)
c.3819C= (p.Phe1273=)
c.3792C= (p.Phe1264=)
c.3738C= (p.Phe1246=)
c.3138C= (p.Phe1046=)
c.4086C= (p.Phe1362=)
c.4083C= (p.Phe1361=)
c.4002C= (p.Phe1334=)
c.3933C= (p.Phe1311=)
c.3801C= (p.Phe1267=)
c.3669C= (p.Phe1223=)
20g.32436534C>GCA408563867ASXL1c.3822C>G (p.Phe1274Leu)
c.3639C>G (p.Phe1213Leu)
n.6175C>G
c.1870-1896C>G (n.1870-1896C>G)
c.3807C>G (p.Phe1269Leu)
c.3819C>G (p.Phe1273Leu)
c.3792C>G (p.Phe1264Leu)
c.3738C>G (p.Phe1246Leu)
c.3138C>G (p.Phe1046Leu)
c.4086C>G (p.Phe1362Leu)
c.4083C>G (p.Phe1361Leu)
c.4002C>G (p.Phe1334Leu)
c.3933C>G (p.Phe1311Leu)
c.3801C>G (p.Phe1267Leu)
c.3669C>G (p.Phe1223Leu)
20g.32436534C>TCA510467419ASXL1c.3822C>T (p.Phe1274=)
c.3639C>T (p.Phe1213=)
n.6175C>T
c.1870-1896C>T (n.1870-1896C>T)
c.3807C>T (p.Phe1269=)
c.3819C>T (p.Phe1273=)
c.3792C>T (p.Phe1264=)
c.3738C>T (p.Phe1246=)
c.3138C>T (p.Phe1046=)
c.4086C>T (p.Phe1362=)
c.4083C>T (p.Phe1361=)
c.4002C>T (p.Phe1334=)
c.3933C>T (p.Phe1311=)
c.3801C>T (p.Phe1267=)
c.3669C>T (p.Phe1223=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436535T>ACA408563868ASXL1c.3823T>A (p.Ser1275Thr)
c.3640T>A (p.Ser1214Thr)
n.6176T>A
c.1870-1895T>A (n.1870-1895T>A)
c.3808T>A (p.Ser1270Thr)
c.3820T>A (p.Ser1274Thr)
c.3793T>A (p.Ser1265Thr)
c.3739T>A (p.Ser1247Thr)
c.3139T>A (p.Ser1047Thr)
c.4087T>A (p.Ser1363Thr)
c.4084T>A (p.Ser1362Thr)
c.4003T>A (p.Ser1335Thr)
c.3934T>A (p.Ser1312Thr)
c.3802T>A (p.Ser1268Thr)
c.3670T>A (p.Ser1224Thr)
20g.32436535T>CCA408563869ASXL1c.3823T>C (p.Ser1275Pro)
c.3640T>C (p.Ser1214Pro)
n.6176T>C
c.1870-1895T>C (n.1870-1895T>C)
c.3808T>C (p.Ser1270Pro)
c.3820T>C (p.Ser1274Pro)
c.3793T>C (p.Ser1265Pro)
c.3739T>C (p.Ser1247Pro)
c.3139T>C (p.Ser1047Pro)
c.4087T>C (p.Ser1363Pro)
c.4084T>C (p.Ser1362Pro)
c.4003T>C (p.Ser1335Pro)
c.3934T>C (p.Ser1312Pro)
c.3802T>C (p.Ser1268Pro)
c.3670T>C (p.Ser1224Pro)
 gnomAD v4
20g.32436535T>GCA408563870ASXL1c.3823T>G (p.Ser1275Ala)
c.3640T>G (p.Ser1214Ala)
n.6176T>G
c.1870-1895T>G (n.1870-1895T>G)
c.3808T>G (p.Ser1270Ala)
c.3820T>G (p.Ser1274Ala)
c.3793T>G (p.Ser1265Ala)
c.3739T>G (p.Ser1247Ala)
c.3139T>G (p.Ser1047Ala)
c.4087T>G (p.Ser1363Ala)
c.4084T>G (p.Ser1362Ala)
c.4003T>G (p.Ser1335Ala)
c.3934T>G (p.Ser1312Ala)
c.3802T>G (p.Ser1268Ala)
c.3670T>G (p.Ser1224Ala)
20g.32436536C>ACA408563873ASXL1c.3824C>A (p.Ser1275Ter)
c.3641C>A (p.Ser1214Ter)
n.6177C>A
c.1870-1894C>A (n.1870-1894C>A)
c.3809C>A (p.Ser1270Ter)
c.3821C>A (p.Ser1274Ter)
c.3794C>A (p.Ser1265Ter)
c.3740C>A (p.Ser1247Ter)
c.3140C>A (p.Ser1047Ter)
c.4088C>A (p.Ser1363Ter)
c.4085C>A (p.Ser1362Ter)
c.4004C>A (p.Ser1335Ter)
c.3935C>A (p.Ser1312Ter)
c.3803C>A (p.Ser1268Ter)
c.3671C>A (p.Ser1224Ter)
20g.32436536C>GCA408563872ASXL1c.3824C>G (p.Ser1275Ter)
c.3641C>G (p.Ser1214Ter)
n.6177C>G
c.1870-1894C>G (n.1870-1894C>G)
c.3809C>G (p.Ser1270Ter)
c.3821C>G (p.Ser1274Ter)
c.3794C>G (p.Ser1265Ter)
c.3740C>G (p.Ser1247Ter)
c.3140C>G (p.Ser1047Ter)
c.4088C>G (p.Ser1363Ter)
c.4085C>G (p.Ser1362Ter)
c.4004C>G (p.Ser1335Ter)
c.3935C>G (p.Ser1312Ter)
c.3803C>G (p.Ser1268Ter)
c.3671C>G (p.Ser1224Ter)
 gnomAD v4 COSMIC
20g.32436536C>TCA408563871ASXL1c.3824C>T (p.Ser1275Leu)
c.3641C>T (p.Ser1214Leu)
n.6177C>T
c.1870-1894C>T (n.1870-1894C>T)
c.3809C>T (p.Ser1270Leu)
c.3821C>T (p.Ser1274Leu)
c.3794C>T (p.Ser1265Leu)
c.3740C>T (p.Ser1247Leu)
c.3140C>T (p.Ser1047Leu)
c.4088C>T (p.Ser1363Leu)
c.4085C>T (p.Ser1362Leu)
c.4004C>T (p.Ser1335Leu)
c.3935C>T (p.Ser1312Leu)
c.3803C>T (p.Ser1268Leu)
c.3671C>T (p.Ser1224Leu)
 gnomAD v4
20g.32436537A>CCA510467422ASXL1c.3825A>C (p.Ser1275=)
c.3642A>C (p.Ser1214=)
n.6178A>C
c.1870-1893A>C (n.1870-1893A>C)
c.3810A>C (p.Ser1270=)
c.3822A>C (p.Ser1274=)
c.3795A>C (p.Ser1265=)
c.3741A>C (p.Ser1247=)
c.3141A>C (p.Ser1047=)
c.4089A>C (p.Ser1363=)
c.4086A>C (p.Ser1362=)
c.4005A>C (p.Ser1335=)
c.3936A>C (p.Ser1312=)
c.3804A>C (p.Ser1268=)
c.3672A>C (p.Ser1224=)
20g.32436537A>GCA510467423ASXL1c.3825A>G (p.Ser1275=)
c.3642A>G (p.Ser1214=)
n.6178A>G
c.1870-1893A>G (n.1870-1893A>G)
c.3810A>G (p.Ser1270=)
c.3822A>G (p.Ser1274=)
c.3795A>G (p.Ser1265=)
c.3741A>G (p.Ser1247=)
c.3141A>G (p.Ser1047=)
c.4089A>G (p.Ser1363=)
c.4086A>G (p.Ser1362=)
c.4005A>G (p.Ser1335=)
c.3936A>G (p.Ser1312=)
c.3804A>G (p.Ser1268=)
c.3672A>G (p.Ser1224=)
20g.32436537A>TCA510467424ASXL1c.3825A>T (p.Ser1275=)
c.3642A>T (p.Ser1214=)
n.6178A>T
c.1870-1893A>T (n.1870-1893A>T)
c.3810A>T (p.Ser1270=)
c.3822A>T (p.Ser1274=)
c.3795A>T (p.Ser1265=)
c.3741A>T (p.Ser1247=)
c.3141A>T (p.Ser1047=)
c.4089A>T (p.Ser1363=)
c.4086A>T (p.Ser1362=)
c.4005A>T (p.Ser1335=)
c.3936A>T (p.Ser1312=)
c.3804A>T (p.Ser1268=)
c.3672A>T (p.Ser1224=)
 dbSNP
20g.32436538T>ACA408563876ASXL1c.3826T>A (p.Ser1276Thr)
c.3643T>A (p.Ser1215Thr)
n.6179T>A
c.1870-1892T>A (n.1870-1892T>A)
c.3811T>A (p.Ser1271Thr)
c.3823T>A (p.Ser1275Thr)
c.3796T>A (p.Ser1266Thr)
c.3742T>A (p.Ser1248Thr)
c.3142T>A (p.Ser1048Thr)
c.4090T>A (p.Ser1364Thr)
c.4087T>A (p.Ser1363Thr)
c.4006T>A (p.Ser1336Thr)
c.3937T>A (p.Ser1313Thr)
c.3805T>A (p.Ser1269Thr)
c.3673T>A (p.Ser1225Thr)
20g.32436538T>CCA408563874ASXL1c.3826T>C (p.Ser1276Pro)
c.3643T>C (p.Ser1215Pro)
n.6179T>C
c.1870-1892T>C (n.1870-1892T>C)
c.3811T>C (p.Ser1271Pro)
c.3823T>C (p.Ser1275Pro)
c.3796T>C (p.Ser1266Pro)
c.3742T>C (p.Ser1248Pro)
c.3142T>C (p.Ser1048Pro)
c.4090T>C (p.Ser1364Pro)
c.4087T>C (p.Ser1363Pro)
c.4006T>C (p.Ser1336Pro)
c.3937T>C (p.Ser1313Pro)
c.3805T>C (p.Ser1269Pro)
c.3673T>C (p.Ser1225Pro)
 gnomAD v4
20g.32436538T>GCA408563875ASXL1c.3826T>G (p.Ser1276Ala)
c.3643T>G (p.Ser1215Ala)
n.6179T>G
c.1870-1892T>G (n.1870-1892T>G)
c.3811T>G (p.Ser1271Ala)
c.3823T>G (p.Ser1275Ala)
c.3796T>G (p.Ser1266Ala)
c.3742T>G (p.Ser1248Ala)
c.3142T>G (p.Ser1048Ala)
c.4090T>G (p.Ser1364Ala)
c.4087T>G (p.Ser1363Ala)
c.4006T>G (p.Ser1336Ala)
c.3937T>G (p.Ser1313Ala)
c.3805T>G (p.Ser1269Ala)
c.3673T>G (p.Ser1225Ala)
20g.32436538_32436541delinsTCTCCA2360293756ASXL1c.3826_3829delinsTCTC (p.Ser1276=)
c.3643_3646delinsTCTC (p.Ser1215=)
n.6179_6182delinsTCTC
c.1870-1892_1870-1889delinsTCTC (n.1870-1892_1870-1889delinsTCTC)
c.3811_3814delinsTCTC (p.Ser1271=)
c.3823_3826delinsTCTC (p.Ser1275=)
c.3796_3799delinsTCTC (p.Ser1266=)
c.3742_3745delinsTCTC (p.Ser1248=)
c.3142_3145delinsTCTC (p.Ser1048=)
c.4090_4093delinsTCTC (p.Ser1364=)
c.4087_4090delinsTCTC (p.Ser1363=)
c.4006_4009delinsTCTC (p.Ser1336=)
c.3937_3940delinsTCTC (p.Ser1313=)
c.3805_3808delinsTCTC (p.Ser1269=)
c.3673_3676delinsTCTC (p.Ser1225=)
20g.32436540_32436541dupCA2771199434ASXL1c.3828_3829dup (p.Pro1277LeufsTer4)
c.3645_3646dup (p.Pro1216LeufsTer4)
n.6181_6182dup
c.1870-1890_1870-1889dup (n.1870-1890_1870-1889dup)
c.3813_3814dup (p.Pro1272LeufsTer4)
c.3825_3826dup (p.Pro1276LeufsTer4)
c.3798_3799dup (p.Pro1267LeufsTer4)
c.3744_3745dup (p.Pro1249LeufsTer4)
c.3144_3145dup (p.Pro1049LeufsTer4)
c.4092_4093dup (p.Pro1365LeufsTer4)
c.4089_4090dup (p.Pro1364LeufsTer4)
c.4008_4009dup (p.Pro1337LeufsTer4)
c.3939_3940dup (p.Pro1314LeufsTer4)
c.3807_3808dup (p.Pro1270LeufsTer4)
c.3675_3676dup (p.Pro1226LeufsTer4)
20g.32436539C>ACA408563877ASXL1c.3827C>A (p.Ser1276Tyr)
c.3644C>A (p.Ser1215Tyr)
n.6180C>A
c.1870-1891C>A (n.1870-1891C>A)
c.3812C>A (p.Ser1271Tyr)
c.3824C>A (p.Ser1275Tyr)
c.3797C>A (p.Ser1266Tyr)
c.3743C>A (p.Ser1248Tyr)
c.3143C>A (p.Ser1048Tyr)
c.4091C>A (p.Ser1364Tyr)
c.4088C>A (p.Ser1363Tyr)
c.4007C>A (p.Ser1336Tyr)
c.3938C>A (p.Ser1313Tyr)
c.3806C>A (p.Ser1269Tyr)
c.3674C>A (p.Ser1225Tyr)
 dbSNP
20g.32436539C=CA2360293757ASXL1c.3827C= (p.Ser1276=)
c.3644C= (p.Ser1215=)
n.6180C=
c.1870-1891C= (n.1870-1891C=)
c.3812C= (p.Ser1271=)
c.3824C= (p.Ser1275=)
c.3797C= (p.Ser1266=)
c.3743C= (p.Ser1248=)
c.3143C= (p.Ser1048=)
c.4091C= (p.Ser1364=)
c.4088C= (p.Ser1363=)
c.4007C= (p.Ser1336=)
c.3938C= (p.Ser1313=)
c.3806C= (p.Ser1269=)
c.3674C= (p.Ser1225=)
20g.32436539C>GCA408563878ASXL1c.3827C>G (p.Ser1276Cys)
c.3644C>G (p.Ser1215Cys)
n.6180C>G
c.1870-1891C>G (n.1870-1891C>G)
c.3812C>G (p.Ser1271Cys)
c.3824C>G (p.Ser1275Cys)
c.3797C>G (p.Ser1266Cys)
c.3743C>G (p.Ser1248Cys)
c.3143C>G (p.Ser1048Cys)
c.4091C>G (p.Ser1364Cys)
c.4088C>G (p.Ser1363Cys)
c.4007C>G (p.Ser1336Cys)
c.3938C>G (p.Ser1313Cys)
c.3806C>G (p.Ser1269Cys)
c.3674C>G (p.Ser1225Cys)
 dbSNP gnomAD v4
20g.32436539C>TCA9808913ASXL1c.3827C>T (p.Ser1276Phe)
c.3644C>T (p.Ser1215Phe)
n.6180C>T
c.1870-1891C>T (n.1870-1891C>T)
c.3812C>T (p.Ser1271Phe)
c.3824C>T (p.Ser1275Phe)
c.3797C>T (p.Ser1266Phe)
c.3743C>T (p.Ser1248Phe)
c.3143C>T (p.Ser1048Phe)
c.4091C>T (p.Ser1364Phe)
c.4088C>T (p.Ser1363Phe)
c.4007C>T (p.Ser1336Phe)
c.3938C>T (p.Ser1313Phe)
c.3806C>T (p.Ser1269Phe)
c.3674C>T (p.Ser1225Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436540_32436542delCA635268568ASXL1c.3828_3830del (p.Pro1277del)
c.3645_3647del (p.Pro1216del)
n.6181_6183del
c.1870-1890_1870-1888del (n.1870-1890_1870-1888del)
c.3813_3815del (p.Pro1272del)
c.3825_3827del (p.Pro1276del)
c.3798_3800del (p.Pro1267del)
c.3744_3746del (p.Pro1249del)
c.3144_3146del (p.Pro1049del)
c.4092_4094del (p.Pro1365del)
c.4089_4091del (p.Pro1364del)
c.4008_4010del (p.Pro1337del)
c.3939_3941del (p.Pro1314del)
c.3807_3809del (p.Pro1270del)
c.3675_3677del (p.Pro1226del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436540delCA510467428ASXL1c.3828del (p.Pro1277GlnfsTer3)
c.3645del (p.Pro1216GlnfsTer3)
n.6181del
c.1870-1890del (n.1870-1890del)
c.3813del (p.Pro1272GlnfsTer3)
c.3825del (p.Pro1276GlnfsTer3)
c.3798del (p.Pro1267GlnfsTer3)
c.3744del (p.Pro1249GlnfsTer3)
c.3144del (p.Pro1049GlnfsTer3)
c.4092del (p.Pro1365GlnfsTer3)
c.4089del (p.Pro1364GlnfsTer3)
c.4008del (p.Pro1337GlnfsTer3)
c.3939del (p.Pro1314GlnfsTer3)
c.3807del (p.Pro1270GlnfsTer3)
c.3675del (p.Pro1226GlnfsTer3)
 COSMIC
20g.32436540T>ACA510467425ASXL1c.3828T>A (p.Ser1276=)
c.3645T>A (p.Ser1215=)
n.6181T>A
c.1870-1890T>A (n.1870-1890T>A)
c.3813T>A (p.Ser1271=)
c.3825T>A (p.Ser1275=)
c.3798T>A (p.Ser1266=)
c.3744T>A (p.Ser1248=)
c.3144T>A (p.Ser1048=)
c.4092T>A (p.Ser1364=)
c.4089T>A (p.Ser1363=)
c.4008T>A (p.Ser1336=)
c.3939T>A (p.Ser1313=)
c.3807T>A (p.Ser1269=)
c.3675T>A (p.Ser1225=)
 dbSNP
20g.32436540T>CCA510467426ASXL1c.3828T>C (p.Ser1276=)
c.3645T>C (p.Ser1215=)
n.6181T>C
c.1870-1890T>C (n.1870-1890T>C)
c.3813T>C (p.Ser1271=)
c.3825T>C (p.Ser1275=)
c.3798T>C (p.Ser1266=)
c.3744T>C (p.Ser1248=)
c.3144T>C (p.Ser1048=)
c.4092T>C (p.Ser1364=)
c.4089T>C (p.Ser1363=)
c.4008T>C (p.Ser1336=)
c.3939T>C (p.Ser1313=)
c.3807T>C (p.Ser1269=)
c.3675T>C (p.Ser1225=)
20g.32436540T>GCA510467427ASXL1c.3828T>G (p.Ser1276=)
c.3645T>G (p.Ser1215=)
n.6181T>G
c.1870-1890T>G (n.1870-1890T>G)
c.3813T>G (p.Ser1271=)
c.3825T>G (p.Ser1275=)
c.3798T>G (p.Ser1266=)
c.3744T>G (p.Ser1248=)
c.3144T>G (p.Ser1048=)
c.4092T>G (p.Ser1364=)
c.4089T>G (p.Ser1363=)
c.4008T>G (p.Ser1336=)
c.3939T>G (p.Ser1313=)
c.3807T>G (p.Ser1269=)
c.3675T>G (p.Ser1225=)
20g.32436541C>ACA408563881ASXL1c.3829C>A (p.Pro1277Thr)
c.3646C>A (p.Pro1216Thr)
n.6182C>A
c.1870-1889C>A (n.1870-1889C>A)
c.3814C>A (p.Pro1272Thr)
c.3826C>A (p.Pro1276Thr)
c.3799C>A (p.Pro1267Thr)
c.3745C>A (p.Pro1249Thr)
c.3145C>A (p.Pro1049Thr)
c.4093C>A (p.Pro1365Thr)
c.4090C>A (p.Pro1364Thr)
c.4009C>A (p.Pro1337Thr)
c.3940C>A (p.Pro1314Thr)
c.3808C>A (p.Pro1270Thr)
c.3676C>A (p.Pro1226Thr)
20g.32436541C>GCA408563880ASXL1c.3829C>G (p.Pro1277Ala)
c.3646C>G (p.Pro1216Ala)
n.6182C>G
c.1870-1889C>G (n.1870-1889C>G)
c.3814C>G (p.Pro1272Ala)
c.3826C>G (p.Pro1276Ala)
c.3799C>G (p.Pro1267Ala)
c.3745C>G (p.Pro1249Ala)
c.3145C>G (p.Pro1049Ala)
c.4093C>G (p.Pro1365Ala)
c.4090C>G (p.Pro1364Ala)
c.4009C>G (p.Pro1337Ala)
c.3940C>G (p.Pro1314Ala)
c.3808C>G (p.Pro1270Ala)
c.3676C>G (p.Pro1226Ala)
20g.32436541C>TCA408563879ASXL1c.3829C>T (p.Pro1277Ser)
c.3646C>T (p.Pro1216Ser)
n.6182C>T
c.1870-1889C>T (n.1870-1889C>T)
c.3814C>T (p.Pro1272Ser)
c.3826C>T (p.Pro1276Ser)
c.3799C>T (p.Pro1267Ser)
c.3745C>T (p.Pro1249Ser)
c.3145C>T (p.Pro1049Ser)
c.4093C>T (p.Pro1365Ser)
c.4090C>T (p.Pro1364Ser)
c.4009C>T (p.Pro1337Ser)
c.3940C>T (p.Pro1314Ser)
c.3808C>T (p.Pro1270Ser)
c.3676C>T (p.Pro1226Ser)
 dbSNP gnomAD v4
20g.32436542C>ACA408563882ASXL1c.3830C>A (p.Pro1277Gln)
c.3647C>A (p.Pro1216Gln)
n.6183C>A
c.1870-1888C>A (n.1870-1888C>A)
c.3815C>A (p.Pro1272Gln)
c.3827C>A (p.Pro1276Gln)
c.3800C>A (p.Pro1267Gln)
c.3746C>A (p.Pro1249Gln)
c.3146C>A (p.Pro1049Gln)
c.4094C>A (p.Pro1365Gln)
c.4091C>A (p.Pro1364Gln)
c.4010C>A (p.Pro1337Gln)
c.3941C>A (p.Pro1314Gln)
c.3809C>A (p.Pro1270Gln)
c.3677C>A (p.Pro1226Gln)
20g.32436542C=CA2360293758ASXL1c.3830C= (p.Pro1277=)
c.3647C= (p.Pro1216=)
n.6183C=
c.1870-1888C= (n.1870-1888C=)
c.3815C= (p.Pro1272=)
c.3827C= (p.Pro1276=)
c.3800C= (p.Pro1267=)
c.3746C= (p.Pro1249=)
c.3146C= (p.Pro1049=)
c.4094C= (p.Pro1365=)
c.4091C= (p.Pro1364=)
c.4010C= (p.Pro1337=)
c.3941C= (p.Pro1314=)
c.3809C= (p.Pro1270=)
c.3677C= (p.Pro1226=)
20g.32436542C>GCA408563883ASXL1c.3830C>G (p.Pro1277Arg)
c.3647C>G (p.Pro1216Arg)
n.6183C>G
c.1870-1888C>G (n.1870-1888C>G)
c.3815C>G (p.Pro1272Arg)
c.3827C>G (p.Pro1276Arg)
c.3800C>G (p.Pro1267Arg)
c.3746C>G (p.Pro1249Arg)
c.3146C>G (p.Pro1049Arg)
c.4094C>G (p.Pro1365Arg)
c.4091C>G (p.Pro1364Arg)
c.4010C>G (p.Pro1337Arg)
c.3941C>G (p.Pro1314Arg)
c.3809C>G (p.Pro1270Arg)
c.3677C>G (p.Pro1226Arg)
20g.32436542C>TCA408563884ASXL1c.3830C>T (p.Pro1277Leu)
c.3647C>T (p.Pro1216Leu)
n.6183C>T
c.1870-1888C>T (n.1870-1888C>T)
c.3815C>T (p.Pro1272Leu)
c.3827C>T (p.Pro1276Leu)
c.3800C>T (p.Pro1267Leu)
c.3746C>T (p.Pro1249Leu)
c.3146C>T (p.Pro1049Leu)
c.4094C>T (p.Pro1365Leu)
c.4091C>T (p.Pro1364Leu)
c.4010C>T (p.Pro1337Leu)
c.3941C>T (p.Pro1314Leu)
c.3809C>T (p.Pro1270Leu)
c.3677C>T (p.Pro1226Leu)
 dbSNP
20g.32436543A>CCA510467429ASXL1c.3831A>C (p.Pro1277=)
c.3648A>C (p.Pro1216=)
n.6184A>C
c.1870-1887A>C (n.1870-1887A>C)
c.3816A>C (p.Pro1272=)
c.3828A>C (p.Pro1276=)
c.3801A>C (p.Pro1267=)
c.3747A>C (p.Pro1249=)
c.3147A>C (p.Pro1049=)
c.4095A>C (p.Pro1365=)
c.4092A>C (p.Pro1364=)
c.4011A>C (p.Pro1337=)
c.3942A>C (p.Pro1314=)
c.3810A>C (p.Pro1270=)
c.3678A>C (p.Pro1226=)
20g.32436543A>GCA510467430ASXL1c.3831A>G (p.Pro1277=)
c.3648A>G (p.Pro1216=)
n.6184A>G
c.1870-1887A>G (n.1870-1887A>G)
c.3816A>G (p.Pro1272=)
c.3828A>G (p.Pro1276=)
c.3801A>G (p.Pro1267=)
c.3747A>G (p.Pro1249=)
c.3147A>G (p.Pro1049=)
c.4095A>G (p.Pro1365=)
c.4092A>G (p.Pro1364=)
c.4011A>G (p.Pro1337=)
c.3942A>G (p.Pro1314=)
c.3810A>G (p.Pro1270=)
c.3678A>G (p.Pro1226=)
20g.32436543A>TCA510467431ASXL1c.3831A>T (p.Pro1277=)
c.3648A>T (p.Pro1216=)
n.6184A>T
c.1870-1887A>T (n.1870-1887A>T)
c.3816A>T (p.Pro1272=)
c.3828A>T (p.Pro1276=)
c.3801A>T (p.Pro1267=)
c.3747A>T (p.Pro1249=)
c.3147A>T (p.Pro1049=)
c.4095A>T (p.Pro1365=)
c.4092A>T (p.Pro1364=)
c.4011A>T (p.Pro1337=)
c.3942A>T (p.Pro1314=)
c.3810A>T (p.Pro1270=)
c.3678A>T (p.Pro1226=)
20g.32436544A>CCA408563885ASXL1c.3832A>C (p.Asn1278His)
c.3649A>C (p.Asn1217His)
n.6185A>C
c.1870-1886A>C (n.1870-1886A>C)
c.3817A>C (p.Asn1273His)
c.3829A>C (p.Asn1277His)
c.3802A>C (p.Asn1268His)
c.3748A>C (p.Asn1250His)
c.3148A>C (p.Asn1050His)
c.4096A>C (p.Asn1366His)
c.4093A>C (p.Asn1365His)
c.4012A>C (p.Asn1338His)
c.3943A>C (p.Asn1315His)
c.3811A>C (p.Asn1271His)
c.3679A>C (p.Asn1227His)
20g.32436544A>GCA408563886ASXL1c.3832A>G (p.Asn1278Asp)
c.3649A>G (p.Asn1217Asp)
n.6185A>G
c.1870-1886A>G (n.1870-1886A>G)
c.3817A>G (p.Asn1273Asp)
c.3829A>G (p.Asn1277Asp)
c.3802A>G (p.Asn1268Asp)
c.3748A>G (p.Asn1250Asp)
c.3148A>G (p.Asn1050Asp)
c.4096A>G (p.Asn1366Asp)
c.4093A>G (p.Asn1365Asp)
c.4012A>G (p.Asn1338Asp)
c.3943A>G (p.Asn1315Asp)
c.3811A>G (p.Asn1271Asp)
c.3679A>G (p.Asn1227Asp)
 gnomAD v4
20g.32436544A>TCA408563887ASXL1c.3832A>T (p.Asn1278Tyr)
c.3649A>T (p.Asn1217Tyr)
n.6185A>T
c.1870-1886A>T (n.1870-1886A>T)
c.3817A>T (p.Asn1273Tyr)
c.3829A>T (p.Asn1277Tyr)
c.3802A>T (p.Asn1268Tyr)
c.3748A>T (p.Asn1250Tyr)
c.3148A>T (p.Asn1050Tyr)
c.4096A>T (p.Asn1366Tyr)
c.4093A>T (p.Asn1365Tyr)
c.4012A>T (p.Asn1338Tyr)
c.3943A>T (p.Asn1315Tyr)
c.3811A>T (p.Asn1271Tyr)
c.3679A>T (p.Asn1227Tyr)
20g.32436545A>CCA408563888ASXL1c.3833A>C (p.Asn1278Thr)
c.3650A>C (p.Asn1217Thr)
n.6186A>C
c.1870-1885A>C (n.1870-1885A>C)
c.3818A>C (p.Asn1273Thr)
c.3830A>C (p.Asn1277Thr)
c.3803A>C (p.Asn1268Thr)
c.3749A>C (p.Asn1250Thr)
c.3149A>C (p.Asn1050Thr)
c.4097A>C (p.Asn1366Thr)
c.4094A>C (p.Asn1365Thr)
c.4013A>C (p.Asn1338Thr)
c.3944A>C (p.Asn1315Thr)
c.3812A>C (p.Asn1271Thr)
c.3680A>C (p.Asn1227Thr)
20g.32436545A>GCA408563890ASXL1c.3833A>G (p.Asn1278Ser)
c.3650A>G (p.Asn1217Ser)
n.6186A>G
c.1870-1885A>G (n.1870-1885A>G)
c.3818A>G (p.Asn1273Ser)
c.3830A>G (p.Asn1277Ser)
c.3803A>G (p.Asn1268Ser)
c.3749A>G (p.Asn1250Ser)
c.3149A>G (p.Asn1050Ser)
c.4097A>G (p.Asn1366Ser)
c.4094A>G (p.Asn1365Ser)
c.4013A>G (p.Asn1338Ser)
c.3944A>G (p.Asn1315Ser)
c.3812A>G (p.Asn1271Ser)
c.3680A>G (p.Asn1227Ser)
 COSMIC COSMIC
20g.32436545A>TCA408563889ASXL1c.3833A>T (p.Asn1278Ile)
c.3650A>T (p.Asn1217Ile)
n.6186A>T
c.1870-1885A>T (n.1870-1885A>T)
c.3818A>T (p.Asn1273Ile)
c.3830A>T (p.Asn1277Ile)
c.3803A>T (p.Asn1268Ile)
c.3749A>T (p.Asn1250Ile)
c.3149A>T (p.Asn1050Ile)
c.4097A>T (p.Asn1366Ile)
c.4094A>T (p.Asn1365Ile)
c.4013A>T (p.Asn1338Ile)
c.3944A>T (p.Asn1315Ile)
c.3812A>T (p.Asn1271Ile)
c.3680A>T (p.Asn1227Ile)
20g.32436546T>ACA408563891ASXL1c.3834T>A (p.Asn1278Lys)
c.3651T>A (p.Asn1217Lys)
n.6187T>A
c.1870-1884T>A (n.1870-1884T>A)
c.3819T>A (p.Asn1273Lys)
c.3831T>A (p.Asn1277Lys)
c.3804T>A (p.Asn1268Lys)
c.3750T>A (p.Asn1250Lys)
c.3150T>A (p.Asn1050Lys)
c.4098T>A (p.Asn1366Lys)
c.4095T>A (p.Asn1365Lys)
c.4014T>A (p.Asn1338Lys)
c.3945T>A (p.Asn1315Lys)
c.3813T>A (p.Asn1271Lys)
c.3681T>A (p.Asn1227Lys)
20g.32436546T>CCA510467432ASXL1c.3834T>C (p.Asn1278=)
c.3651T>C (p.Asn1217=)
n.6187T>C
c.1870-1884T>C (n.1870-1884T>C)
c.3819T>C (p.Asn1273=)
c.3831T>C (p.Asn1277=)
c.3804T>C (p.Asn1268=)
c.3750T>C (p.Asn1250=)
c.3150T>C (p.Asn1050=)
c.4098T>C (p.Asn1366=)
c.4095T>C (p.Asn1365=)
c.4014T>C (p.Asn1338=)
c.3945T>C (p.Asn1315=)
c.3813T>C (p.Asn1271=)
c.3681T>C (p.Asn1227=)
20g.32436546T>GCA408563892ASXL1c.3834T>G (p.Asn1278Lys)
c.3651T>G (p.Asn1217Lys)
n.6187T>G
c.1870-1884T>G (n.1870-1884T>G)
c.3819T>G (p.Asn1273Lys)
c.3831T>G (p.Asn1277Lys)
c.3804T>G (p.Asn1268Lys)
c.3750T>G (p.Asn1250Lys)
c.3150T>G (p.Asn1050Lys)
c.4098T>G (p.Asn1366Lys)
c.4095T>G (p.Asn1365Lys)
c.4014T>G (p.Asn1338Lys)
c.3945T>G (p.Asn1315Lys)
c.3813T>G (p.Asn1271Lys)
c.3681T>G (p.Asn1227Lys)
20g.32436547G>ACA408563893ASXL1c.3835G>A (p.Val1279Met)
c.3652G>A (p.Val1218Met)
n.6188G>A
c.1870-1883G>A (n.1870-1883G>A)
c.3820G>A (p.Val1274Met)
c.3832G>A (p.Val1278Met)
c.3805G>A (p.Val1269Met)
c.3751G>A (p.Val1251Met)
c.3151G>A (p.Val1051Met)
c.4099G>A (p.Val1367Met)
c.4096G>A (p.Val1366Met)
c.4015G>A (p.Val1339Met)
c.3946G>A (p.Val1316Met)
c.3814G>A (p.Val1272Met)
c.3682G>A (p.Val1228Met)
 dbSNP gnomAD v4 COSMIC COSMIC
20g.32436547G>CCA408563894ASXL1c.3835G>C (p.Val1279Leu)
c.3652G>C (p.Val1218Leu)
n.6188G>C
c.1870-1883G>C (n.1870-1883G>C)
c.3820G>C (p.Val1274Leu)
c.3832G>C (p.Val1278Leu)
c.3805G>C (p.Val1269Leu)
c.3751G>C (p.Val1251Leu)
c.3151G>C (p.Val1051Leu)
c.4099G>C (p.Val1367Leu)
c.4096G>C (p.Val1366Leu)
c.4015G>C (p.Val1339Leu)
c.3946G>C (p.Val1316Leu)
c.3814G>C (p.Val1272Leu)
c.3682G>C (p.Val1228Leu)
20g.32436547G=CA2360293759ASXL1c.3835G= (p.Val1279=)
c.3652G= (p.Val1218=)
n.6188G=
c.1870-1883G= (n.1870-1883G=)
c.3820G= (p.Val1274=)
c.3832G= (p.Val1278=)
c.3805G= (p.Val1269=)
c.3751G= (p.Val1251=)
c.3151G= (p.Val1051=)
c.4099G= (p.Val1367=)
c.4096G= (p.Val1366=)
c.4015G= (p.Val1339=)
c.3946G= (p.Val1316=)
c.3814G= (p.Val1272=)
c.3682G= (p.Val1228=)
20g.32436547G>TCA408563895ASXL1c.3835G>T (p.Val1279Leu)
c.3652G>T (p.Val1218Leu)
n.6188G>T
c.1870-1883G>T (n.1870-1883G>T)
c.3820G>T (p.Val1274Leu)
c.3832G>T (p.Val1278Leu)
c.3805G>T (p.Val1269Leu)
c.3751G>T (p.Val1251Leu)
c.3151G>T (p.Val1051Leu)
c.4099G>T (p.Val1367Leu)
c.4096G>T (p.Val1366Leu)
c.4015G>T (p.Val1339Leu)
c.3946G>T (p.Val1316Leu)
c.3814G>T (p.Val1272Leu)
c.3682G>T (p.Val1228Leu)
20g.32436548T>ACA408563896ASXL1c.3836T>A (p.Val1279Glu)
c.3653T>A (p.Val1218Glu)
n.6189T>A
c.1870-1882T>A (n.1870-1882T>A)
c.3821T>A (p.Val1274Glu)
c.3833T>A (p.Val1278Glu)
c.3806T>A (p.Val1269Glu)
c.3752T>A (p.Val1251Glu)
c.3152T>A (p.Val1051Glu)
c.4100T>A (p.Val1367Glu)
c.4097T>A (p.Val1366Glu)
c.4016T>A (p.Val1339Glu)
c.3947T>A (p.Val1316Glu)
c.3815T>A (p.Val1272Glu)
c.3683T>A (p.Val1228Glu)
20g.32436548T>CCA408563897ASXL1c.3836T>C (p.Val1279Ala)
c.3653T>C (p.Val1218Ala)
n.6189T>C
c.1870-1882T>C (n.1870-1882T>C)
c.3821T>C (p.Val1274Ala)
c.3833T>C (p.Val1278Ala)
c.3806T>C (p.Val1269Ala)
c.3752T>C (p.Val1251Ala)
c.3152T>C (p.Val1051Ala)
c.4100T>C (p.Val1367Ala)
c.4097T>C (p.Val1366Ala)
c.4016T>C (p.Val1339Ala)
c.3947T>C (p.Val1316Ala)
c.3815T>C (p.Val1272Ala)
c.3683T>C (p.Val1228Ala)
20g.32436548T>GCA408563898ASXL1c.3836T>G (p.Val1279Gly)
c.3653T>G (p.Val1218Gly)
n.6189T>G
c.1870-1882T>G (n.1870-1882T>G)
c.3821T>G (p.Val1274Gly)
c.3833T>G (p.Val1278Gly)
c.3806T>G (p.Val1269Gly)
c.3752T>G (p.Val1251Gly)
c.3152T>G (p.Val1051Gly)
c.4100T>G (p.Val1367Gly)
c.4097T>G (p.Val1366Gly)
c.4016T>G (p.Val1339Gly)
c.3947T>G (p.Val1316Gly)
c.3815T>G (p.Val1272Gly)
c.3683T>G (p.Val1228Gly)
20g.32436549G>ACA510467433ASXL1c.3837G>A (p.Val1279=)
c.3654G>A (p.Val1218=)
n.6190G>A
c.1870-1881G>A (n.1870-1881G>A)
c.3822G>A (p.Val1274=)
c.3834G>A (p.Val1278=)
c.3807G>A (p.Val1269=)
c.3753G>A (p.Val1251=)
c.3153G>A (p.Val1051=)
c.4101G>A (p.Val1367=)
c.4098G>A (p.Val1366=)
c.4017G>A (p.Val1339=)
c.3948G>A (p.Val1316=)
c.3816G>A (p.Val1272=)
c.3684G>A (p.Val1228=)
20g.32436549G>CCA510467434ASXL1c.3837G>C (p.Val1279=)
c.3654G>C (p.Val1218=)
n.6190G>C
c.1870-1881G>C (n.1870-1881G>C)
c.3822G>C (p.Val1274=)
c.3834G>C (p.Val1278=)
c.3807G>C (p.Val1269=)
c.3753G>C (p.Val1251=)
c.3153G>C (p.Val1051=)
c.4101G>C (p.Val1367=)
c.4098G>C (p.Val1366=)
c.4017G>C (p.Val1339=)
c.3948G>C (p.Val1316=)
c.3816G>C (p.Val1272=)
c.3684G>C (p.Val1228=)
20g.32436549G>TCA510467435ASXL1c.3837G>T (p.Val1279=)
c.3654G>T (p.Val1218=)
n.6190G>T
c.1870-1881G>T (n.1870-1881G>T)
c.3822G>T (p.Val1274=)
c.3834G>T (p.Val1278=)
c.3807G>T (p.Val1269=)
c.3753G>T (p.Val1251=)
c.3153G>T (p.Val1051=)
c.4101G>T (p.Val1367=)
c.4098G>T (p.Val1366=)
c.4017G>T (p.Val1339=)
c.3948G>T (p.Val1316=)
c.3816G>T (p.Val1272=)
c.3684G>T (p.Val1228=)
20g.32436550A=CA2360293760ASXL1c.3838A= (p.Ile1280=)
c.3655A= (p.Ile1219=)
n.6191A=
c.1870-1880A= (n.1870-1880A=)
c.3823A= (p.Ile1275=)
c.3835A= (p.Ile1279=)
c.3808A= (p.Ile1270=)
c.3754A= (p.Ile1252=)
c.3154A= (p.Ile1052=)
c.4102A= (p.Ile1368=)
c.4099A= (p.Ile1367=)
c.4018A= (p.Ile1340=)
c.3949A= (p.Ile1317=)
c.3817A= (p.Ile1273=)
c.3685A= (p.Ile1229=)
20g.32436550A>CCA408563899ASXL1c.3838A>C (p.Ile1280Leu)
c.3655A>C (p.Ile1219Leu)
n.6191A>C
c.1870-1880A>C (n.1870-1880A>C)
c.3823A>C (p.Ile1275Leu)
c.3835A>C (p.Ile1279Leu)
c.3808A>C (p.Ile1270Leu)
c.3754A>C (p.Ile1252Leu)
c.3154A>C (p.Ile1052Leu)
c.4102A>C (p.Ile1368Leu)
c.4099A>C (p.Ile1367Leu)
c.4018A>C (p.Ile1340Leu)
c.3949A>C (p.Ile1317Leu)
c.3817A>C (p.Ile1273Leu)
c.3685A>C (p.Ile1229Leu)
20g.32436550A>GCA408563900ASXL1c.3838A>G (p.Ile1280Val)
c.3655A>G (p.Ile1219Val)
n.6191A>G
c.1870-1880A>G (n.1870-1880A>G)
c.3823A>G (p.Ile1275Val)
c.3835A>G (p.Ile1279Val)
c.3808A>G (p.Ile1270Val)
c.3754A>G (p.Ile1252Val)
c.3154A>G (p.Ile1052Val)
c.4102A>G (p.Ile1368Val)
c.4099A>G (p.Ile1367Val)
c.4018A>G (p.Ile1340Val)
c.3949A>G (p.Ile1317Val)
c.3817A>G (p.Ile1273Val)
c.3685A>G (p.Ile1229Val)
20g.32436550A>TCA408563901ASXL1c.3838A>T (p.Ile1280Phe)
c.3655A>T (p.Ile1219Phe)
n.6191A>T
c.1870-1880A>T (n.1870-1880A>T)
c.3823A>T (p.Ile1275Phe)
c.3835A>T (p.Ile1279Phe)
c.3808A>T (p.Ile1270Phe)
c.3754A>T (p.Ile1252Phe)
c.3154A>T (p.Ile1052Phe)
c.4102A>T (p.Ile1368Phe)
c.4099A>T (p.Ile1367Phe)
c.4018A>T (p.Ile1340Phe)
c.3949A>T (p.Ile1317Phe)
c.3817A>T (p.Ile1273Phe)
c.3685A>T (p.Ile1229Phe)
 dbSNP gnomAD v3 gnomAD v4
20g.32436551T>ACA408563903ASXL1c.3839T>A (p.Ile1280Asn)
c.3656T>A (p.Ile1219Asn)
n.6192T>A
c.1870-1879T>A (n.1870-1879T>A)
c.3824T>A (p.Ile1275Asn)
c.3836T>A (p.Ile1279Asn)
c.3809T>A (p.Ile1270Asn)
c.3755T>A (p.Ile1252Asn)
c.3155T>A (p.Ile1052Asn)
c.4103T>A (p.Ile1368Asn)
c.4100T>A (p.Ile1367Asn)
c.4019T>A (p.Ile1340Asn)
c.3950T>A (p.Ile1317Asn)
c.3818T>A (p.Ile1273Asn)
c.3686T>A (p.Ile1229Asn)
 ClinVar
20g.32436551T>CCA408563904ASXL1c.3839T>C (p.Ile1280Thr)
c.3656T>C (p.Ile1219Thr)
n.6192T>C
c.1870-1879T>C (n.1870-1879T>C)
c.3824T>C (p.Ile1275Thr)
c.3836T>C (p.Ile1279Thr)
c.3809T>C (p.Ile1270Thr)
c.3755T>C (p.Ile1252Thr)
c.3155T>C (p.Ile1052Thr)
c.4103T>C (p.Ile1368Thr)
c.4100T>C (p.Ile1367Thr)
c.4019T>C (p.Ile1340Thr)
c.3950T>C (p.Ile1317Thr)
c.3818T>C (p.Ile1273Thr)
c.3686T>C (p.Ile1229Thr)
 dbSNP
20g.32436551T>GCA408563902ASXL1c.3839T>G (p.Ile1280Ser)
c.3656T>G (p.Ile1219Ser)
n.6192T>G
c.1870-1879T>G (n.1870-1879T>G)
c.3824T>G (p.Ile1275Ser)
c.3836T>G (p.Ile1279Ser)
c.3809T>G (p.Ile1270Ser)
c.3755T>G (p.Ile1252Ser)
c.3155T>G (p.Ile1052Ser)
c.4103T>G (p.Ile1368Ser)
c.4100T>G (p.Ile1367Ser)
c.4019T>G (p.Ile1340Ser)
c.3950T>G (p.Ile1317Ser)
c.3818T>G (p.Ile1273Ser)
c.3686T>G (p.Ile1229Ser)
20g.32436551T=CA2360293761ASXL1c.3839T= (p.Ile1280=)
c.3656T= (p.Ile1219=)
n.6192T=
c.1870-1879T= (n.1870-1879T=)
c.3824T= (p.Ile1275=)
c.3836T= (p.Ile1279=)
c.3809T= (p.Ile1270=)
c.3755T= (p.Ile1252=)
c.3155T= (p.Ile1052=)
c.4103T= (p.Ile1368=)
c.4100T= (p.Ile1367=)
c.4019T= (p.Ile1340=)
c.3950T= (p.Ile1317=)
c.3818T= (p.Ile1273=)
c.3686T= (p.Ile1229=)
20g.32436552C>ACA510467437ASXL1c.3840C>A (p.Ile1280=)
c.3657C>A (p.Ile1219=)
n.6193C>A
c.1870-1878C>A (n.1870-1878C>A)
c.3825C>A (p.Ile1275=)
c.3837C>A (p.Ile1279=)
c.3810C>A (p.Ile1270=)
c.3756C>A (p.Ile1252=)
c.3156C>A (p.Ile1052=)
c.4104C>A (p.Ile1368=)
c.4101C>A (p.Ile1367=)
c.4020C>A (p.Ile1340=)
c.3951C>A (p.Ile1317=)
c.3819C>A (p.Ile1273=)
c.3687C>A (p.Ile1229=)
20g.32436552C=CA2360293762ASXL1c.3840C= (p.Ile1280=)
c.3657C= (p.Ile1219=)
n.6193C=
c.1870-1878C= (n.1870-1878C=)
c.3825C= (p.Ile1275=)
c.3837C= (p.Ile1279=)
c.3810C= (p.Ile1270=)
c.3756C= (p.Ile1252=)
c.3156C= (p.Ile1052=)
c.4104C= (p.Ile1368=)
c.4101C= (p.Ile1367=)
c.4020C= (p.Ile1340=)
c.3951C= (p.Ile1317=)
c.3819C= (p.Ile1273=)
c.3687C= (p.Ile1229=)
20g.32436552C>GCA408563905ASXL1c.3840C>G (p.Ile1280Met)
c.3657C>G (p.Ile1219Met)
n.6193C>G
c.1870-1878C>G (n.1870-1878C>G)
c.3825C>G (p.Ile1275Met)
c.3837C>G (p.Ile1279Met)
c.3810C>G (p.Ile1270Met)
c.3756C>G (p.Ile1252Met)
c.3156C>G (p.Ile1052Met)
c.4104C>G (p.Ile1368Met)
c.4101C>G (p.Ile1367Met)
c.4020C>G (p.Ile1340Met)
c.3951C>G (p.Ile1317Met)
c.3819C>G (p.Ile1273Met)
c.3687C>G (p.Ile1229Met)
20g.32436552C>TCA510467436ASXL1c.3840C>T (p.Ile1280=)
c.3657C>T (p.Ile1219=)
n.6193C>T
c.1870-1878C>T (n.1870-1878C>T)
c.3825C>T (p.Ile1275=)
c.3837C>T (p.Ile1279=)
c.3810C>T (p.Ile1270=)
c.3756C>T (p.Ile1252=)
c.3156C>T (p.Ile1052=)
c.4104C>T (p.Ile1368=)
c.4101C>T (p.Ile1367=)
c.4020C>T (p.Ile1340=)
c.3951C>T (p.Ile1317=)
c.3819C>T (p.Ile1273=)
c.3687C>T (p.Ile1229=)
 dbSNP gnomAD v4
20g.32436553T>ACA408563908ASXL1c.3841T>A (p.Ser1281Thr)
c.3658T>A (p.Ser1220Thr)
n.6194T>A
c.1870-1877T>A (n.1870-1877T>A)
c.3826T>A (p.Ser1276Thr)
c.3838T>A (p.Ser1280Thr)
c.3811T>A (p.Ser1271Thr)
c.3757T>A (p.Ser1253Thr)
c.3157T>A (p.Ser1053Thr)
c.4105T>A (p.Ser1369Thr)
c.4102T>A (p.Ser1368Thr)
c.4021T>A (p.Ser1341Thr)
c.3952T>A (p.Ser1318Thr)
c.3820T>A (p.Ser1274Thr)
c.3688T>A (p.Ser1230Thr)
20g.32436553T>CCA408563906ASXL1c.3841T>C (p.Ser1281Pro)
c.3658T>C (p.Ser1220Pro)
n.6194T>C
c.1870-1877T>C (n.1870-1877T>C)
c.3826T>C (p.Ser1276Pro)
c.3838T>C (p.Ser1280Pro)
c.3811T>C (p.Ser1271Pro)
c.3757T>C (p.Ser1253Pro)
c.3157T>C (p.Ser1053Pro)
c.4105T>C (p.Ser1369Pro)
c.4102T>C (p.Ser1368Pro)
c.4021T>C (p.Ser1341Pro)
c.3952T>C (p.Ser1318Pro)
c.3820T>C (p.Ser1274Pro)
c.3688T>C (p.Ser1230Pro)
 dbSNP gnomAD v4
20g.32436553T>GCA408563907ASXL1c.3841T>G (p.Ser1281Ala)
c.3658T>G (p.Ser1220Ala)
n.6194T>G
c.1870-1877T>G (n.1870-1877T>G)
c.3826T>G (p.Ser1276Ala)
c.3838T>G (p.Ser1280Ala)
c.3811T>G (p.Ser1271Ala)
c.3757T>G (p.Ser1253Ala)
c.3157T>G (p.Ser1053Ala)
c.4105T>G (p.Ser1369Ala)
c.4102T>G (p.Ser1368Ala)
c.4021T>G (p.Ser1341Ala)
c.3952T>G (p.Ser1318Ala)
c.3820T>G (p.Ser1274Ala)
c.3688T>G (p.Ser1230Ala)
20g.32436553T=CA2360293763ASXL1c.3841T= (p.Ser1281=)
c.3658T= (p.Ser1220=)
n.6194T=
c.1870-1877T= (n.1870-1877T=)
c.3826T= (p.Ser1276=)
c.3838T= (p.Ser1280=)
c.3811T= (p.Ser1271=)
c.3757T= (p.Ser1253=)
c.3157T= (p.Ser1053=)
c.4105T= (p.Ser1369=)
c.4102T= (p.Ser1368=)
c.4021T= (p.Ser1341=)
c.3952T= (p.Ser1318=)
c.3820T= (p.Ser1274=)
c.3688T= (p.Ser1230=)
20g.32436554C>ACA408563909ASXL1c.3842C>A (p.Ser1281Tyr)
c.3659C>A (p.Ser1220Tyr)
n.6195C>A
c.1870-1876C>A (n.1870-1876C>A)
c.3827C>A (p.Ser1276Tyr)
c.3839C>A (p.Ser1280Tyr)
c.3812C>A (p.Ser1271Tyr)
c.3758C>A (p.Ser1253Tyr)
c.3158C>A (p.Ser1053Tyr)
c.4106C>A (p.Ser1369Tyr)
c.4103C>A (p.Ser1368Tyr)
c.4022C>A (p.Ser1341Tyr)
c.3953C>A (p.Ser1318Tyr)
c.3821C>A (p.Ser1274Tyr)
c.3689C>A (p.Ser1230Tyr)
20g.32436554C=CA2360293764ASXL1c.3842C= (p.Ser1281=)
c.3659C= (p.Ser1220=)
n.6195C=
c.1870-1876C= (n.1870-1876C=)
c.3827C= (p.Ser1276=)
c.3839C= (p.Ser1280=)
c.3812C= (p.Ser1271=)
c.3758C= (p.Ser1253=)
c.3158C= (p.Ser1053=)
c.4106C= (p.Ser1369=)
c.4103C= (p.Ser1368=)
c.4022C= (p.Ser1341=)
c.3953C= (p.Ser1318=)
c.3821C= (p.Ser1274=)
c.3689C= (p.Ser1230=)
20g.32436554C>GCA408563910ASXL1c.3842C>G (p.Ser1281Cys)
c.3659C>G (p.Ser1220Cys)
n.6195C>G
c.1870-1876C>G (n.1870-1876C>G)
c.3827C>G (p.Ser1276Cys)
c.3839C>G (p.Ser1280Cys)
c.3812C>G (p.Ser1271Cys)
c.3758C>G (p.Ser1253Cys)
c.3158C>G (p.Ser1053Cys)
c.4106C>G (p.Ser1369Cys)
c.4103C>G (p.Ser1368Cys)
c.4022C>G (p.Ser1341Cys)
c.3953C>G (p.Ser1318Cys)
c.3821C>G (p.Ser1274Cys)
c.3689C>G (p.Ser1230Cys)
 dbSNP
20g.32436554C>TCA408563911ASXL1c.3842C>T (p.Ser1281Phe)
c.3659C>T (p.Ser1220Phe)
n.6195C>T
c.1870-1876C>T (n.1870-1876C>T)
c.3827C>T (p.Ser1276Phe)
c.3839C>T (p.Ser1280Phe)
c.3812C>T (p.Ser1271Phe)
c.3758C>T (p.Ser1253Phe)
c.3158C>T (p.Ser1053Phe)
c.4106C>T (p.Ser1369Phe)
c.4103C>T (p.Ser1368Phe)
c.4022C>T (p.Ser1341Phe)
c.3953C>T (p.Ser1318Phe)
c.3821C>T (p.Ser1274Phe)
c.3689C>T (p.Ser1230Phe)
 dbSNP
20g.32436555C>ACA510467438ASXL1c.3843C>A (p.Ser1281=)
c.3660C>A (p.Ser1220=)
n.6196C>A
c.1870-1875C>A (n.1870-1875C>A)
c.3828C>A (p.Ser1276=)
c.3840C>A (p.Ser1280=)
c.3813C>A (p.Ser1271=)
c.3759C>A (p.Ser1253=)
c.3159C>A (p.Ser1053=)
c.4107C>A (p.Ser1369=)
c.4104C>A (p.Ser1368=)
c.4023C>A (p.Ser1341=)
c.3954C>A (p.Ser1318=)
c.3822C>A (p.Ser1274=)
c.3690C>A (p.Ser1230=)
 ClinVar gnomAD v4
20g.32436555C>GCA510467439ASXL1c.3843C>G (p.Ser1281=)
c.3660C>G (p.Ser1220=)
n.6196C>G
c.1870-1875C>G (n.1870-1875C>G)
c.3828C>G (p.Ser1276=)
c.3840C>G (p.Ser1280=)
c.3813C>G (p.Ser1271=)
c.3759C>G (p.Ser1253=)
c.3159C>G (p.Ser1053=)
c.4107C>G (p.Ser1369=)
c.4104C>G (p.Ser1368=)
c.4023C>G (p.Ser1341=)
c.3954C>G (p.Ser1318=)
c.3822C>G (p.Ser1274=)
c.3690C>G (p.Ser1230=)
20g.32436555C>TCA510467440ASXL1c.3843C>T (p.Ser1281=)
c.3660C>T (p.Ser1220=)
n.6196C>T
c.1870-1875C>T (n.1870-1875C>T)
c.3828C>T (p.Ser1276=)
c.3840C>T (p.Ser1280=)
c.3813C>T (p.Ser1271=)
c.3759C>T (p.Ser1253=)
c.3159C>T (p.Ser1053=)
c.4107C>T (p.Ser1369=)
c.4104C>T (p.Ser1368=)
c.4023C>T (p.Ser1341=)
c.3954C>T (p.Ser1318=)
c.3822C>T (p.Ser1274=)
c.3690C>T (p.Ser1230=)
 ClinVar dbSNP COSMIC COSMIC
20g.32436556T>ACA408563912ASXL1c.3844T>A (p.Phe1282Ile)
c.3661T>A (p.Phe1221Ile)
n.6197T>A
c.1870-1874T>A (n.1870-1874T>A)
c.3829T>A (p.Phe1277Ile)
c.3841T>A (p.Phe1281Ile)
c.3814T>A (p.Phe1272Ile)
c.3760T>A (p.Phe1254Ile)
c.3160T>A (p.Phe1054Ile)
c.4108T>A (p.Phe1370Ile)
c.4105T>A (p.Phe1369Ile)
c.4024T>A (p.Phe1342Ile)
c.3955T>A (p.Phe1319Ile)
c.3823T>A (p.Phe1275Ile)
c.3691T>A (p.Phe1231Ile)
20g.32436556T>CCA408563913ASXL1c.3844T>C (p.Phe1282Leu)
c.3661T>C (p.Phe1221Leu)
n.6197T>C
c.1870-1874T>C (n.1870-1874T>C)
c.3829T>C (p.Phe1277Leu)
c.3841T>C (p.Phe1281Leu)
c.3814T>C (p.Phe1272Leu)
c.3760T>C (p.Phe1254Leu)
c.3160T>C (p.Phe1054Leu)
c.4108T>C (p.Phe1370Leu)
c.4105T>C (p.Phe1369Leu)
c.4024T>C (p.Phe1342Leu)
c.3955T>C (p.Phe1319Leu)
c.3823T>C (p.Phe1275Leu)
c.3691T>C (p.Phe1231Leu)
20g.32436556T>GCA408563914ASXL1c.3844T>G (p.Phe1282Val)
c.3661T>G (p.Phe1221Val)
n.6197T>G
c.1870-1874T>G (n.1870-1874T>G)
c.3829T>G (p.Phe1277Val)
c.3841T>G (p.Phe1281Val)
c.3814T>G (p.Phe1272Val)
c.3760T>G (p.Phe1254Val)
c.3160T>G (p.Phe1054Val)
c.4108T>G (p.Phe1370Val)
c.4105T>G (p.Phe1369Val)
c.4024T>G (p.Phe1342Val)
c.3955T>G (p.Phe1319Val)
c.3823T>G (p.Phe1275Val)
c.3691T>G (p.Phe1231Val)
20g.32436557T>ACA408563915ASXL1c.3845T>A (p.Phe1282Tyr)
c.3662T>A (p.Phe1221Tyr)
n.6198T>A
c.1870-1873T>A (n.1870-1873T>A)
c.3830T>A (p.Phe1277Tyr)
c.3842T>A (p.Phe1281Tyr)
c.3815T>A (p.Phe1272Tyr)
c.3761T>A (p.Phe1254Tyr)
c.3161T>A (p.Phe1054Tyr)
c.4109T>A (p.Phe1370Tyr)
c.4106T>A (p.Phe1369Tyr)
c.4025T>A (p.Phe1342Tyr)
c.3956T>A (p.Phe1319Tyr)
c.3824T>A (p.Phe1275Tyr)
c.3692T>A (p.Phe1231Tyr)
20g.32436557T>CCA408563916ASXL1c.3845T>C (p.Phe1282Ser)
c.3662T>C (p.Phe1221Ser)
n.6198T>C
c.1870-1873T>C (n.1870-1873T>C)
c.3830T>C (p.Phe1277Ser)
c.3842T>C (p.Phe1281Ser)
c.3815T>C (p.Phe1272Ser)
c.3761T>C (p.Phe1254Ser)
c.3161T>C (p.Phe1054Ser)
c.4109T>C (p.Phe1370Ser)
c.4106T>C (p.Phe1369Ser)
c.4025T>C (p.Phe1342Ser)
c.3956T>C (p.Phe1319Ser)
c.3824T>C (p.Phe1275Ser)
c.3692T>C (p.Phe1231Ser)
20g.32436557T>GCA408563917ASXL1c.3845T>G (p.Phe1282Cys)
c.3662T>G (p.Phe1221Cys)
n.6198T>G
c.1870-1873T>G (n.1870-1873T>G)
c.3830T>G (p.Phe1277Cys)
c.3842T>G (p.Phe1281Cys)
c.3815T>G (p.Phe1272Cys)
c.3761T>G (p.Phe1254Cys)
c.3161T>G (p.Phe1054Cys)
c.4109T>G (p.Phe1370Cys)
c.4106T>G (p.Phe1369Cys)
c.4025T>G (p.Phe1342Cys)
c.3956T>G (p.Phe1319Cys)
c.3824T>G (p.Phe1275Cys)
c.3692T>G (p.Phe1231Cys)
20g.32436558T>ACA408563919ASXL1c.3846T>A (p.Phe1282Leu)
c.3663T>A (p.Phe1221Leu)
n.6199T>A
c.1870-1872T>A (n.1870-1872T>A)
c.3831T>A (p.Phe1277Leu)
c.3843T>A (p.Phe1281Leu)
c.3816T>A (p.Phe1272Leu)
c.3762T>A (p.Phe1254Leu)
c.3162T>A (p.Phe1054Leu)
c.4110T>A (p.Phe1370Leu)
c.4107T>A (p.Phe1369Leu)
c.4026T>A (p.Phe1342Leu)
c.3957T>A (p.Phe1319Leu)
c.3825T>A (p.Phe1275Leu)
c.3693T>A (p.Phe1231Leu)
20g.32436558T>CCA510467441ASXL1c.3846T>C (p.Phe1282=)
c.3663T>C (p.Phe1221=)
n.6199T>C
c.1870-1872T>C (n.1870-1872T>C)
c.3831T>C (p.Phe1277=)
c.3843T>C (p.Phe1281=)
c.3816T>C (p.Phe1272=)
c.3762T>C (p.Phe1254=)
c.3162T>C (p.Phe1054=)
c.4110T>C (p.Phe1370=)
c.4107T>C (p.Phe1369=)
c.4026T>C (p.Phe1342=)
c.3957T>C (p.Phe1319=)
c.3825T>C (p.Phe1275=)
c.3693T>C (p.Phe1231=)
20g.32436558T>GCA408563918ASXL1c.3846T>G (p.Phe1282Leu)
c.3663T>G (p.Phe1221Leu)
n.6199T>G
c.1870-1872T>G (n.1870-1872T>G)
c.3831T>G (p.Phe1277Leu)
c.3843T>G (p.Phe1281Leu)
c.3816T>G (p.Phe1272Leu)
c.3762T>G (p.Phe1254Leu)
c.3162T>G (p.Phe1054Leu)
c.4110T>G (p.Phe1370Leu)
c.4107T>G (p.Phe1369Leu)
c.4026T>G (p.Phe1342Leu)
c.3957T>G (p.Phe1319Leu)
c.3825T>G (p.Phe1275Leu)
c.3693T>G (p.Phe1231Leu)
20g.32436558_32436559delinsTGCA2360293765ASXL1c.3846_3847delinsTG (p.Phe1282=)
c.3663_3664delinsTG (p.Phe1221=)
n.6199_6200delinsTG
c.1870-1872_1870-1871delinsTG (n.1870-1872_1870-1871delinsTG)
c.3831_3832delinsTG (p.Phe1277=)
c.3843_3844delinsTG (p.Phe1281=)
c.3816_3817delinsTG (p.Phe1272=)
c.3762_3763delinsTG (p.Phe1254=)
c.3162_3163delinsTG (p.Phe1054=)
c.4110_4111delinsTG (p.Phe1370=)
c.4107_4108delinsTG (p.Phe1369=)
c.4026_4027delinsTG (p.Phe1342=)
c.3957_3958delinsTG (p.Phe1319=)
c.3825_3826delinsTG (p.Phe1275=)
c.3693_3694delinsTG (p.Phe1231=)
20g.32436559G>ACA9808914ASXL1c.3847G>A (p.Gly1283Ser)
c.3664G>A (p.Gly1222Ser)
n.6200G>A
c.1870-1871G>A (n.1870-1871G>A)
c.3832G>A (p.Gly1278Ser)
c.3844G>A (p.Gly1282Ser)
c.3817G>A (p.Gly1273Ser)
c.3763G>A (p.Gly1255Ser)
c.3163G>A (p.Gly1055Ser)
c.4111G>A (p.Gly1371Ser)
c.4108G>A (p.Gly1370Ser)
c.4027G>A (p.Gly1343Ser)
c.3958G>A (p.Gly1320Ser)
c.3826G>A (p.Gly1276Ser)
c.3694G>A (p.Gly1232Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436559G>CCA408563920ASXL1c.3847G>C (p.Gly1283Arg)
c.3664G>C (p.Gly1222Arg)
n.6200G>C
c.1870-1871G>C (n.1870-1871G>C)
c.3832G>C (p.Gly1278Arg)
c.3844G>C (p.Gly1282Arg)
c.3817G>C (p.Gly1273Arg)
c.3763G>C (p.Gly1255Arg)
c.3163G>C (p.Gly1055Arg)
c.4111G>C (p.Gly1371Arg)
c.4108G>C (p.Gly1370Arg)
c.4027G>C (p.Gly1343Arg)
c.3958G>C (p.Gly1320Arg)
c.3826G>C (p.Gly1276Arg)
c.3694G>C (p.Gly1232Arg)
20g.32436559G=CA2360293766ASXL1c.3847G= (p.Gly1283=)
c.3664G= (p.Gly1222=)
n.6200G=
c.1870-1871G= (n.1870-1871G=)
c.3832G= (p.Gly1278=)
c.3844G= (p.Gly1282=)
c.3817G= (p.Gly1273=)
c.3763G= (p.Gly1255=)
c.3163G= (p.Gly1055=)
c.4111G= (p.Gly1371=)
c.4108G= (p.Gly1370=)
c.4027G= (p.Gly1343=)
c.3958G= (p.Gly1320=)
c.3826G= (p.Gly1276=)
c.3694G= (p.Gly1232=)
20g.32436559G>TCA408563921ASXL1c.3847G>T (p.Gly1283Cys)
c.3664G>T (p.Gly1222Cys)
n.6200G>T
c.1870-1871G>T (n.1870-1871G>T)
c.3832G>T (p.Gly1278Cys)
c.3844G>T (p.Gly1282Cys)
c.3817G>T (p.Gly1273Cys)
c.3763G>T (p.Gly1255Cys)
c.3163G>T (p.Gly1055Cys)
c.4111G>T (p.Gly1371Cys)
c.4108G>T (p.Gly1370Cys)
c.4027G>T (p.Gly1343Cys)
c.3958G>T (p.Gly1320Cys)
c.3826G>T (p.Gly1276Cys)
c.3694G>T (p.Gly1232Cys)
20g.32436560delCA313926365ASXL1c.3848del (p.Gly1283ValfsTer?)
c.3665del (p.Gly1222ValfsTer?)
n.6201del
c.1870-1870del (n.1870-1870del)
c.3833del (p.Gly1278ValfsTer?)
c.3845del (p.Gly1282ValfsTer?)
c.3818del (p.Gly1273ValfsTer?)
c.3764del (p.Gly1255ValfsTer?)
c.3164del (p.Gly1055ValfsTer?)
c.4112del (p.Gly1371ValfsTer?)
c.4109del (p.Gly1370ValfsTer?)
c.4028del (p.Gly1343ValfsTer?)
c.3959del (p.Gly1320ValfsTer?)
c.3827del (p.Gly1276ValfsTer?)
c.3695del (p.Gly1232ValfsTer?)
 dbSNP
20g.32436560G>ACA408563922ASXL1c.3848G>A (p.Gly1283Asp)
c.3665G>A (p.Gly1222Asp)
n.6201G>A
c.1870-1870G>A (n.1870-1870G>A)
c.3833G>A (p.Gly1278Asp)
c.3845G>A (p.Gly1282Asp)
c.3818G>A (p.Gly1273Asp)
c.3764G>A (p.Gly1255Asp)
c.3164G>A (p.Gly1055Asp)
c.4112G>A (p.Gly1371Asp)
c.4109G>A (p.Gly1370Asp)
c.4028G>A (p.Gly1343Asp)
c.3959G>A (p.Gly1320Asp)
c.3827G>A (p.Gly1276Asp)
c.3695G>A (p.Gly1232Asp)
 gnomAD v4
20g.32436560G>CCA408563923ASXL1c.3848G>C (p.Gly1283Ala)
c.3665G>C (p.Gly1222Ala)
n.6201G>C
c.1870-1870G>C (n.1870-1870G>C)
c.3833G>C (p.Gly1278Ala)
c.3845G>C (p.Gly1282Ala)
c.3818G>C (p.Gly1273Ala)
c.3764G>C (p.Gly1255Ala)
c.3164G>C (p.Gly1055Ala)
c.4112G>C (p.Gly1371Ala)
c.4109G>C (p.Gly1370Ala)
c.4028G>C (p.Gly1343Ala)
c.3959G>C (p.Gly1320Ala)
c.3827G>C (p.Gly1276Ala)
c.3695G>C (p.Gly1232Ala)
 dbSNP
20g.32436560G>TCA408563924ASXL1c.3848G>T (p.Gly1283Val)
c.3665G>T (p.Gly1222Val)
n.6201G>T
c.1870-1870G>T (n.1870-1870G>T)
c.3833G>T (p.Gly1278Val)
c.3845G>T (p.Gly1282Val)
c.3818G>T (p.Gly1273Val)
c.3764G>T (p.Gly1255Val)
c.3164G>T (p.Gly1055Val)
c.4112G>T (p.Gly1371Val)
c.4109G>T (p.Gly1370Val)
c.4028G>T (p.Gly1343Val)
c.3959G>T (p.Gly1320Val)
c.3827G>T (p.Gly1276Val)
c.3695G>T (p.Gly1232Val)
20g.32436561_32436578delCA2759533400ASXL1c.3849_3866del (p.Pro1284_Arg1289del)
c.3666_3683del (p.Pro1223_Arg1228del)
n.6202_6219del
c.1870-1869_1870-1852del (n.1870-1869_1870-1852del)
c.3834_3851del (p.Pro1279_Arg1284del)
c.3846_3863del (p.Pro1283_Arg1288del)
c.3819_3836del (p.Pro1274_Arg1279del)
c.3765_3782del (p.Pro1256_Arg1261del)
c.3165_3182del (p.Pro1056_Arg1061del)
c.4113_4130del (p.Pro1372_Arg1377del)
c.4110_4127del (p.Pro1371_Arg1376del)
c.4029_4046del (p.Pro1344_Arg1349del)
c.3960_3977del (p.Pro1321_Arg1326del)
c.3828_3845del (p.Pro1277_Arg1282del)
c.3696_3713del (p.Pro1233_Arg1238del)
20g.32436561T>ACA510467442ASXL1c.3849T>A (p.Gly1283=)
c.3666T>A (p.Gly1222=)
n.6202T>A
c.1870-1869T>A (n.1870-1869T>A)
c.3834T>A (p.Gly1278=)
c.3846T>A (p.Gly1282=)
c.3819T>A (p.Gly1273=)
c.3765T>A (p.Gly1255=)
c.3165T>A (p.Gly1055=)
c.4113T>A (p.Gly1371=)
c.4110T>A (p.Gly1370=)
c.4029T>A (p.Gly1343=)
c.3960T>A (p.Gly1320=)
c.3828T>A (p.Gly1276=)
c.3696T>A (p.Gly1232=)
 dbSNP
20g.32436561T>CCA510467443ASXL1c.3849T>C (p.Gly1283=)
c.3666T>C (p.Gly1222=)
n.6202T>C
c.1870-1869T>C (n.1870-1869T>C)
c.3834T>C (p.Gly1278=)
c.3846T>C (p.Gly1282=)
c.3819T>C (p.Gly1273=)
c.3765T>C (p.Gly1255=)
c.3165T>C (p.Gly1055=)
c.4113T>C (p.Gly1371=)
c.4110T>C (p.Gly1370=)
c.4029T>C (p.Gly1343=)
c.3960T>C (p.Gly1320=)
c.3828T>C (p.Gly1276=)
c.3696T>C (p.Gly1232=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436561T>GCA510467444ASXL1c.3849T>G (p.Gly1283=)
c.3666T>G (p.Gly1222=)
n.6202T>G
c.1870-1869T>G (n.1870-1869T>G)
c.3834T>G (p.Gly1278=)
c.3846T>G (p.Gly1282=)
c.3819T>G (p.Gly1273=)
c.3765T>G (p.Gly1255=)
c.3165T>G (p.Gly1055=)
c.4113T>G (p.Gly1371=)
c.4110T>G (p.Gly1370=)
c.4029T>G (p.Gly1343=)
c.3960T>G (p.Gly1320=)
c.3828T>G (p.Gly1276=)
c.3696T>G (p.Gly1232=)
20g.32436561T=CA2360293767ASXL1c.3849T= (p.Gly1283=)
c.3666T= (p.Gly1222=)
n.6202T=
c.1870-1869T= (n.1870-1869T=)
c.3834T= (p.Gly1278=)
c.3846T= (p.Gly1282=)
c.3819T= (p.Gly1273=)
c.3765T= (p.Gly1255=)
c.3165T= (p.Gly1055=)
c.4113T= (p.Gly1371=)
c.4110T= (p.Gly1370=)
c.4029T= (p.Gly1343=)
c.3960T= (p.Gly1320=)
c.3828T= (p.Gly1276=)
c.3696T= (p.Gly1232=)
20g.32436562C>ACA408563925ASXL1c.3850C>A (p.Pro1284Thr)
c.3667C>A (p.Pro1223Thr)
n.6203C>A
c.1870-1868C>A (n.1870-1868C>A)
c.3835C>A (p.Pro1279Thr)
c.3847C>A (p.Pro1283Thr)
c.3820C>A (p.Pro1274Thr)
c.3766C>A (p.Pro1256Thr)
c.3166C>A (p.Pro1056Thr)
c.4114C>A (p.Pro1372Thr)
c.4111C>A (p.Pro1371Thr)
c.4030C>A (p.Pro1344Thr)
c.3961C>A (p.Pro1321Thr)
c.3829C>A (p.Pro1277Thr)
c.3697C>A (p.Pro1233Thr)
20g.32436562C=CA2360293768ASXL1c.3850C= (p.Pro1284=)
c.3667C= (p.Pro1223=)
n.6203C=
c.1870-1868C= (n.1870-1868C=)
c.3835C= (p.Pro1279=)
c.3847C= (p.Pro1283=)
c.3820C= (p.Pro1274=)
c.3766C= (p.Pro1256=)
c.3166C= (p.Pro1056=)
c.4114C= (p.Pro1372=)
c.4111C= (p.Pro1371=)
c.4030C= (p.Pro1344=)
c.3961C= (p.Pro1321=)
c.3829C= (p.Pro1277=)
c.3697C= (p.Pro1233=)
20g.32436562C>GCA9808915ASXL1c.3850C>G (p.Pro1284Ala)
c.3667C>G (p.Pro1223Ala)
n.6203C>G
c.1870-1868C>G (n.1870-1868C>G)
c.3835C>G (p.Pro1279Ala)
c.3847C>G (p.Pro1283Ala)
c.3820C>G (p.Pro1274Ala)
c.3766C>G (p.Pro1256Ala)
c.3166C>G (p.Pro1056Ala)
c.4114C>G (p.Pro1372Ala)
c.4111C>G (p.Pro1371Ala)
c.4030C>G (p.Pro1344Ala)
c.3961C>G (p.Pro1321Ala)
c.3829C>G (p.Pro1277Ala)
c.3697C>G (p.Pro1233Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436562C>TCA408563926ASXL1c.3850C>T (p.Pro1284Ser)
c.3667C>T (p.Pro1223Ser)
n.6203C>T
c.1870-1868C>T (n.1870-1868C>T)
c.3835C>T (p.Pro1279Ser)
c.3847C>T (p.Pro1283Ser)
c.3820C>T (p.Pro1274Ser)
c.3766C>T (p.Pro1256Ser)
c.3166C>T (p.Pro1056Ser)
c.4114C>T (p.Pro1372Ser)
c.4111C>T (p.Pro1371Ser)
c.4030C>T (p.Pro1344Ser)
c.3961C>T (p.Pro1321Ser)
c.3829C>T (p.Pro1277Ser)
c.3697C>T (p.Pro1233Ser)
20g.32436563C>ACA408563927ASXL1c.3851C>A (p.Pro1284Gln)
c.3668C>A (p.Pro1223Gln)
n.6204C>A
c.1870-1867C>A (n.1870-1867C>A)
c.3836C>A (p.Pro1279Gln)
c.3848C>A (p.Pro1283Gln)
c.3821C>A (p.Pro1274Gln)
c.3767C>A (p.Pro1256Gln)
c.3167C>A (p.Pro1056Gln)
c.4115C>A (p.Pro1372Gln)
c.4112C>A (p.Pro1371Gln)
c.4031C>A (p.Pro1344Gln)
c.3962C>A (p.Pro1321Gln)
c.3830C>A (p.Pro1277Gln)
c.3698C>A (p.Pro1233Gln)
20g.32436563C>GCA408563928ASXL1c.3851C>G (p.Pro1284Arg)
c.3668C>G (p.Pro1223Arg)
n.6204C>G
c.1870-1867C>G (n.1870-1867C>G)
c.3836C>G (p.Pro1279Arg)
c.3848C>G (p.Pro1283Arg)
c.3821C>G (p.Pro1274Arg)
c.3767C>G (p.Pro1256Arg)
c.3167C>G (p.Pro1056Arg)
c.4115C>G (p.Pro1372Arg)
c.4112C>G (p.Pro1371Arg)
c.4031C>G (p.Pro1344Arg)
c.3962C>G (p.Pro1321Arg)
c.3830C>G (p.Pro1277Arg)
c.3698C>G (p.Pro1233Arg)
 COSMIC COSMIC
20g.32436563C>TCA408563929ASXL1c.3851C>T (p.Pro1284Leu)
c.3668C>T (p.Pro1223Leu)
n.6204C>T
c.1870-1867C>T (n.1870-1867C>T)
c.3836C>T (p.Pro1279Leu)
c.3848C>T (p.Pro1283Leu)
c.3821C>T (p.Pro1274Leu)
c.3767C>T (p.Pro1256Leu)
c.3167C>T (p.Pro1056Leu)
c.4115C>T (p.Pro1372Leu)
c.4112C>T (p.Pro1371Leu)
c.4031C>T (p.Pro1344Leu)
c.3962C>T (p.Pro1321Leu)
c.3830C>T (p.Pro1277Leu)
c.3698C>T (p.Pro1233Leu)
 dbSNP gnomAD v4
20g.32436564A>CCA510467445ASXL1c.3852A>C (p.Pro1284=)
c.3669A>C (p.Pro1223=)
n.6205A>C
c.1870-1866A>C (n.1870-1866A>C)
c.3837A>C (p.Pro1279=)
c.3849A>C (p.Pro1283=)
c.3822A>C (p.Pro1274=)
c.3768A>C (p.Pro1256=)
c.3168A>C (p.Pro1056=)
c.4116A>C (p.Pro1372=)
c.4113A>C (p.Pro1371=)
c.4032A>C (p.Pro1344=)
c.3963A>C (p.Pro1321=)
c.3831A>C (p.Pro1277=)
c.3699A>C (p.Pro1233=)
20g.32436564A>GCA510467446ASXL1c.3852A>G (p.Pro1284=)
c.3669A>G (p.Pro1223=)
n.6205A>G
c.1870-1866A>G (n.1870-1866A>G)
c.3837A>G (p.Pro1279=)
c.3849A>G (p.Pro1283=)
c.3822A>G (p.Pro1274=)
c.3768A>G (p.Pro1256=)
c.3168A>G (p.Pro1056=)
c.4116A>G (p.Pro1372=)
c.4113A>G (p.Pro1371=)
c.4032A>G (p.Pro1344=)
c.3963A>G (p.Pro1321=)
c.3831A>G (p.Pro1277=)
c.3699A>G (p.Pro1233=)
20g.32436564A>TCA510467447ASXL1c.3852A>T (p.Pro1284=)
c.3669A>T (p.Pro1223=)
n.6205A>T
c.1870-1866A>T (n.1870-1866A>T)
c.3837A>T (p.Pro1279=)
c.3849A>T (p.Pro1283=)
c.3822A>T (p.Pro1274=)
c.3768A>T (p.Pro1256=)
c.3168A>T (p.Pro1056=)
c.4116A>T (p.Pro1372=)
c.4113A>T (p.Pro1371=)
c.4032A>T (p.Pro1344=)
c.3963A>T (p.Pro1321=)
c.3831A>T (p.Pro1277=)
c.3699A>T (p.Pro1233=)
20g.32436565G>ACA408563931ASXL1c.3853G>A (p.Glu1285Lys)
c.3670G>A (p.Glu1224Lys)
n.6206G>A
c.1870-1865G>A (n.1870-1865G>A)
c.3838G>A (p.Glu1280Lys)
c.3850G>A (p.Glu1284Lys)
c.3823G>A (p.Glu1275Lys)
c.3769G>A (p.Glu1257Lys)
c.3169G>A (p.Glu1057Lys)
c.4117G>A (p.Glu1373Lys)
c.4114G>A (p.Glu1372Lys)
c.4033G>A (p.Glu1345Lys)
c.3964G>A (p.Glu1322Lys)
c.3832G>A (p.Glu1278Lys)
c.3700G>A (p.Glu1234Lys)
20g.32436565G>CCA408563932ASXL1c.3853G>C (p.Glu1285Gln)
c.3670G>C (p.Glu1224Gln)
n.6206G>C
c.1870-1865G>C (n.1870-1865G>C)
c.3838G>C (p.Glu1280Gln)
c.3850G>C (p.Glu1284Gln)
c.3823G>C (p.Glu1275Gln)
c.3769G>C (p.Glu1257Gln)
c.3169G>C (p.Glu1057Gln)
c.4117G>C (p.Glu1373Gln)
c.4114G>C (p.Glu1372Gln)
c.4033G>C (p.Glu1345Gln)
c.3964G>C (p.Glu1322Gln)
c.3832G>C (p.Glu1278Gln)
c.3700G>C (p.Glu1234Gln)
20g.32436565G>TCA408563930ASXL1c.3853G>T (p.Glu1285Ter)
c.3670G>T (p.Glu1224Ter)
n.6206G>T
c.1870-1865G>T (n.1870-1865G>T)
c.3838G>T (p.Glu1280Ter)
c.3850G>T (p.Glu1284Ter)
c.3823G>T (p.Glu1275Ter)
c.3769G>T (p.Glu1257Ter)
c.3169G>T (p.Glu1057Ter)
c.4117G>T (p.Glu1373Ter)
c.4114G>T (p.Glu1372Ter)
c.4033G>T (p.Glu1345Ter)
c.3964G>T (p.Glu1322Ter)
c.3832G>T (p.Glu1278Ter)
c.3700G>T (p.Glu1234Ter)
20g.32436566A>CCA408563933ASXL1c.3854A>C (p.Glu1285Ala)
c.3671A>C (p.Glu1224Ala)
n.6207A>C
c.1870-1864A>C (n.1870-1864A>C)
c.3839A>C (p.Glu1280Ala)
c.3851A>C (p.Glu1284Ala)
c.3824A>C (p.Glu1275Ala)
c.3770A>C (p.Glu1257Ala)
c.3170A>C (p.Glu1057Ala)
c.4118A>C (p.Glu1373Ala)
c.4115A>C (p.Glu1372Ala)
c.4034A>C (p.Glu1345Ala)
c.3965A>C (p.Glu1322Ala)
c.3833A>C (p.Glu1278Ala)
c.3701A>C (p.Glu1234Ala)
20g.32436566A>GCA408563934ASXL1c.3854A>G (p.Glu1285Gly)
c.3671A>G (p.Glu1224Gly)
n.6207A>G
c.1870-1864A>G (n.1870-1864A>G)
c.3839A>G (p.Glu1280Gly)
c.3851A>G (p.Glu1284Gly)
c.3824A>G (p.Glu1275Gly)
c.3770A>G (p.Glu1257Gly)
c.3170A>G (p.Glu1057Gly)
c.4118A>G (p.Glu1373Gly)
c.4115A>G (p.Glu1372Gly)
c.4034A>G (p.Glu1345Gly)
c.3965A>G (p.Glu1322Gly)
c.3833A>G (p.Glu1278Gly)
c.3701A>G (p.Glu1234Gly)
20g.32436566A>TCA408563935ASXL1c.3854A>T (p.Glu1285Val)
c.3671A>T (p.Glu1224Val)
n.6207A>T
c.1870-1864A>T (n.1870-1864A>T)
c.3839A>T (p.Glu1280Val)
c.3851A>T (p.Glu1284Val)
c.3824A>T (p.Glu1275Val)
c.3770A>T (p.Glu1257Val)
c.3170A>T (p.Glu1057Val)
c.4118A>T (p.Glu1373Val)
c.4115A>T (p.Glu1372Val)
c.4034A>T (p.Glu1345Val)
c.3965A>T (p.Glu1322Val)
c.3833A>T (p.Glu1278Val)
c.3701A>T (p.Glu1234Val)
20g.32436567G>ACA9808916ASXL1c.3855G>A (p.Glu1285=)
c.3672G>A (p.Glu1224=)
n.6208G>A
c.1870-1863G>A (n.1870-1863G>A)
c.3840G>A (p.Glu1280=)
c.3852G>A (p.Glu1284=)
c.3825G>A (p.Glu1275=)
c.3771G>A (p.Glu1257=)
c.3171G>A (p.Glu1057=)
c.4119G>A (p.Glu1373=)
c.4116G>A (p.Glu1372=)
c.4035G>A (p.Glu1345=)
c.3966G>A (p.Glu1322=)
c.3834G>A (p.Glu1278=)
c.3702G>A (p.Glu1234=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436567G>CCA408563936ASXL1c.3855G>C (p.Glu1285Asp)
c.3672G>C (p.Glu1224Asp)
n.6208G>C
c.1870-1863G>C (n.1870-1863G>C)
c.3840G>C (p.Glu1280Asp)
c.3852G>C (p.Glu1284Asp)
c.3825G>C (p.Glu1275Asp)
c.3771G>C (p.Glu1257Asp)
c.3171G>C (p.Glu1057Asp)
c.4119G>C (p.Glu1373Asp)
c.4116G>C (p.Glu1372Asp)
c.4035G>C (p.Glu1345Asp)
c.3966G>C (p.Glu1322Asp)
c.3834G>C (p.Glu1278Asp)
c.3702G>C (p.Glu1234Asp)
20g.32436567G=CA2360293769ASXL1c.3855G= (p.Glu1285=)
c.3672G= (p.Glu1224=)
n.6208G=
c.1870-1863G= (n.1870-1863G=)
c.3840G= (p.Glu1280=)
c.3852G= (p.Glu1284=)
c.3825G= (p.Glu1275=)
c.3771G= (p.Glu1257=)
c.3171G= (p.Glu1057=)
c.4119G= (p.Glu1373=)
c.4116G= (p.Glu1372=)
c.4035G= (p.Glu1345=)
c.3966G= (p.Glu1322=)
c.3834G= (p.Glu1278=)
c.3702G= (p.Glu1234=)
20g.32436567G>TCA408563937ASXL1c.3855G>T (p.Glu1285Asp)
c.3672G>T (p.Glu1224Asp)
n.6208G>T
c.1870-1863G>T (n.1870-1863G>T)
c.3840G>T (p.Glu1280Asp)
c.3852G>T (p.Glu1284Asp)
c.3825G>T (p.Glu1275Asp)
c.3771G>T (p.Glu1257Asp)
c.3171G>T (p.Glu1057Asp)
c.4119G>T (p.Glu1373Asp)
c.4116G>T (p.Glu1372Asp)
c.4035G>T (p.Glu1345Asp)
c.3966G>T (p.Glu1322Asp)
c.3834G>T (p.Glu1278Asp)
c.3702G>T (p.Glu1234Asp)
20g.32436568C>ACA408563938ASXL1c.3856C>A (p.Gln1286Lys)
c.3673C>A (p.Gln1225Lys)
n.6209C>A
c.1870-1862C>A (n.1870-1862C>A)
c.3841C>A (p.Gln1281Lys)
c.3853C>A (p.Gln1285Lys)
c.3826C>A (p.Gln1276Lys)
c.3772C>A (p.Gln1258Lys)
c.3172C>A (p.Gln1058Lys)
c.4120C>A (p.Gln1374Lys)
c.4117C>A (p.Gln1373Lys)
c.4036C>A (p.Gln1346Lys)
c.3967C>A (p.Gln1323Lys)
c.3835C>A (p.Gln1279Lys)
c.3703C>A (p.Gln1235Lys)
20g.32436568C=CA2360293770ASXL1c.3856C= (p.Gln1286=)
c.3673C= (p.Gln1225=)
n.6209C=
c.1870-1862C= (n.1870-1862C=)
c.3841C= (p.Gln1281=)
c.3853C= (p.Gln1285=)
c.3826C= (p.Gln1276=)
c.3772C= (p.Gln1258=)
c.3172C= (p.Gln1058=)
c.4120C= (p.Gln1374=)
c.4117C= (p.Gln1373=)
c.4036C= (p.Gln1346=)
c.3967C= (p.Gln1323=)
c.3835C= (p.Gln1279=)
c.3703C= (p.Gln1235=)
20g.32436568C>GCA408563939ASXL1c.3856C>G (p.Gln1286Glu)
c.3673C>G (p.Gln1225Glu)
n.6209C>G
c.1870-1862C>G (n.1870-1862C>G)
c.3841C>G (p.Gln1281Glu)
c.3853C>G (p.Gln1285Glu)
c.3826C>G (p.Gln1276Glu)
c.3772C>G (p.Gln1258Glu)
c.3172C>G (p.Gln1058Glu)
c.4120C>G (p.Gln1374Glu)
c.4117C>G (p.Gln1373Glu)
c.4036C>G (p.Gln1346Glu)
c.3967C>G (p.Gln1323Glu)
c.3835C>G (p.Gln1279Glu)
c.3703C>G (p.Gln1235Glu)
20g.32436568C>TCA408563940ASXL1c.3856C>T (p.Gln1286Ter)
c.3673C>T (p.Gln1225Ter)
n.6209C>T
c.1870-1862C>T (n.1870-1862C>T)
c.3841C>T (p.Gln1281Ter)
c.3853C>T (p.Gln1285Ter)
c.3826C>T (p.Gln1276Ter)
c.3772C>T (p.Gln1258Ter)
c.3172C>T (p.Gln1058Ter)
c.4120C>T (p.Gln1374Ter)
c.4117C>T (p.Gln1373Ter)
c.4036C>T (p.Gln1346Ter)
c.3967C>T (p.Gln1323Ter)
c.3835C>T (p.Gln1279Ter)
c.3703C>T (p.Gln1235Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32436569A=CA2360293771ASXL1c.3857A= (p.Gln1286=)
c.3674A= (p.Gln1225=)
n.6210A=
c.1870-1861A= (n.1870-1861A=)
c.3842A= (p.Gln1281=)
c.3854A= (p.Gln1285=)
c.3827A= (p.Gln1276=)
c.3773A= (p.Gln1258=)
c.3173A= (p.Gln1058=)
c.4121A= (p.Gln1374=)
c.4118A= (p.Gln1373=)
c.4037A= (p.Gln1346=)
c.3968A= (p.Gln1323=)
c.3836A= (p.Gln1279=)
c.3704A= (p.Gln1235=)
20g.32436569A>CCA408563941ASXL1c.3857A>C (p.Gln1286Pro)
c.3674A>C (p.Gln1225Pro)
n.6210A>C
c.1870-1861A>C (n.1870-1861A>C)
c.3842A>C (p.Gln1281Pro)
c.3854A>C (p.Gln1285Pro)
c.3827A>C (p.Gln1276Pro)
c.3773A>C (p.Gln1258Pro)
c.3173A>C (p.Gln1058Pro)
c.4121A>C (p.Gln1374Pro)
c.4118A>C (p.Gln1373Pro)
c.4037A>C (p.Gln1346Pro)
c.3968A>C (p.Gln1323Pro)
c.3836A>C (p.Gln1279Pro)
c.3704A>C (p.Gln1235Pro)
20g.32436569A>GCA408563942ASXL1c.3857A>G (p.Gln1286Arg)
c.3674A>G (p.Gln1225Arg)
n.6210A>G
c.1870-1861A>G (n.1870-1861A>G)
c.3842A>G (p.Gln1281Arg)
c.3854A>G (p.Gln1285Arg)
c.3827A>G (p.Gln1276Arg)
c.3773A>G (p.Gln1258Arg)
c.3173A>G (p.Gln1058Arg)
c.4121A>G (p.Gln1374Arg)
c.4118A>G (p.Gln1373Arg)
c.4037A>G (p.Gln1346Arg)
c.3968A>G (p.Gln1323Arg)
c.3836A>G (p.Gln1279Arg)
c.3704A>G (p.Gln1235Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.32436569A>TCA408563943ASXL1c.3857A>T (p.Gln1286Leu)
c.3674A>T (p.Gln1225Leu)
n.6210A>T
c.1870-1861A>T (n.1870-1861A>T)
c.3842A>T (p.Gln1281Leu)
c.3854A>T (p.Gln1285Leu)
c.3827A>T (p.Gln1276Leu)
c.3773A>T (p.Gln1258Leu)
c.3173A>T (p.Gln1058Leu)
c.4121A>T (p.Gln1374Leu)
c.4118A>T (p.Gln1373Leu)
c.4037A>T (p.Gln1346Leu)
c.3968A>T (p.Gln1323Leu)
c.3836A>T (p.Gln1279Leu)
c.3704A>T (p.Gln1235Leu)
20g.32436570G>ACA510467448ASXL1c.3858G>A (p.Gln1286=)
c.3675G>A (p.Gln1225=)
n.6211G>A
c.1870-1860G>A (n.1870-1860G>A)
c.3843G>A (p.Gln1281=)
c.3855G>A (p.Gln1285=)
c.3828G>A (p.Gln1276=)
c.3774G>A (p.Gln1258=)
c.3174G>A (p.Gln1058=)
c.4122G>A (p.Gln1374=)
c.4119G>A (p.Gln1373=)
c.4038G>A (p.Gln1346=)
c.3969G>A (p.Gln1323=)
c.3837G>A (p.Gln1279=)
c.3705G>A (p.Gln1235=)
20g.32436570G>CCA408563945ASXL1c.3858G>C (p.Gln1286His)
c.3675G>C (p.Gln1225His)
n.6211G>C
c.1870-1860G>C (n.1870-1860G>C)
c.3843G>C (p.Gln1281His)
c.3855G>C (p.Gln1285His)
c.3828G>C (p.Gln1276His)
c.3774G>C (p.Gln1258His)
c.3174G>C (p.Gln1058His)
c.4122G>C (p.Gln1374His)
c.4119G>C (p.Gln1373His)
c.4038G>C (p.Gln1346His)
c.3969G>C (p.Gln1323His)
c.3837G>C (p.Gln1279His)
c.3705G>C (p.Gln1235His)
 dbSNP
20g.32436570G=CA2360293772ASXL1c.3858G= (p.Gln1286=)
c.3675G= (p.Gln1225=)
n.6211G=
c.1870-1860G= (n.1870-1860G=)
c.3843G= (p.Gln1281=)
c.3855G= (p.Gln1285=)
c.3828G= (p.Gln1276=)
c.3774G= (p.Gln1258=)
c.3174G= (p.Gln1058=)
c.4122G= (p.Gln1374=)
c.4119G= (p.Gln1373=)
c.4038G= (p.Gln1346=)
c.3969G= (p.Gln1323=)
c.3837G= (p.Gln1279=)
c.3705G= (p.Gln1235=)
20g.32436570G>TCA408563944ASXL1c.3858G>T (p.Gln1286His)
c.3675G>T (p.Gln1225His)
n.6211G>T
c.1870-1860G>T (n.1870-1860G>T)
c.3843G>T (p.Gln1281His)
c.3855G>T (p.Gln1285His)
c.3828G>T (p.Gln1276His)
c.3774G>T (p.Gln1258His)
c.3174G>T (p.Gln1058His)
c.4122G>T (p.Gln1374His)
c.4119G>T (p.Gln1373His)
c.4038G>T (p.Gln1346His)
c.3969G>T (p.Gln1323His)
c.3837G>T (p.Gln1279His)
c.3705G>T (p.Gln1235His)
20g.32436571A>CCA408563946ASXL1c.3859A>C (p.Thr1287Pro)
c.3676A>C (p.Thr1226Pro)
n.6212A>C
c.1870-1859A>C (n.1870-1859A>C)
c.3844A>C (p.Thr1282Pro)
c.3856A>C (p.Thr1286Pro)
c.3829A>C (p.Thr1277Pro)
c.3775A>C (p.Thr1259Pro)
c.3175A>C (p.Thr1059Pro)
c.4123A>C (p.Thr1375Pro)
c.4120A>C (p.Thr1374Pro)
c.4039A>C (p.Thr1347Pro)
c.3970A>C (p.Thr1324Pro)
c.3838A>C (p.Thr1280Pro)
c.3706A>C (p.Thr1236Pro)
20g.32436571A>GCA408563947ASXL1c.3859A>G (p.Thr1287Ala)
c.3676A>G (p.Thr1226Ala)
n.6212A>G
c.1870-1859A>G (n.1870-1859A>G)
c.3844A>G (p.Thr1282Ala)
c.3856A>G (p.Thr1286Ala)
c.3829A>G (p.Thr1277Ala)
c.3775A>G (p.Thr1259Ala)
c.3175A>G (p.Thr1059Ala)
c.4123A>G (p.Thr1375Ala)
c.4120A>G (p.Thr1374Ala)
c.4039A>G (p.Thr1347Ala)
c.3970A>G (p.Thr1324Ala)
c.3838A>G (p.Thr1280Ala)
c.3706A>G (p.Thr1236Ala)
 gnomAD v4 COSMIC COSMIC
20g.32436571A>TCA408563948ASXL1c.3859A>T (p.Thr1287Ser)
c.3676A>T (p.Thr1226Ser)
n.6212A>T
c.1870-1859A>T (n.1870-1859A>T)
c.3844A>T (p.Thr1282Ser)
c.3856A>T (p.Thr1286Ser)
c.3829A>T (p.Thr1277Ser)
c.3775A>T (p.Thr1259Ser)
c.3175A>T (p.Thr1059Ser)
c.4123A>T (p.Thr1375Ser)
c.4120A>T (p.Thr1374Ser)
c.4039A>T (p.Thr1347Ser)
c.3970A>T (p.Thr1324Ser)
c.3838A>T (p.Thr1280Ser)
c.3706A>T (p.Thr1236Ser)
20g.32436572C>ACA408563949ASXL1c.3860C>A (p.Thr1287Lys)
c.3677C>A (p.Thr1226Lys)
n.6213C>A
c.1870-1858C>A (n.1870-1858C>A)
c.3845C>A (p.Thr1282Lys)
c.3857C>A (p.Thr1286Lys)
c.3830C>A (p.Thr1277Lys)
c.3776C>A (p.Thr1259Lys)
c.3176C>A (p.Thr1059Lys)
c.4124C>A (p.Thr1375Lys)
c.4121C>A (p.Thr1374Lys)
c.4040C>A (p.Thr1347Lys)
c.3971C>A (p.Thr1324Lys)
c.3839C>A (p.Thr1280Lys)
c.3707C>A (p.Thr1236Lys)
20g.32436572C>GCA408563950ASXL1c.3860C>G (p.Thr1287Arg)
c.3677C>G (p.Thr1226Arg)
n.6213C>G
c.1870-1858C>G (n.1870-1858C>G)
c.3845C>G (p.Thr1282Arg)
c.3857C>G (p.Thr1286Arg)
c.3830C>G (p.Thr1277Arg)
c.3776C>G (p.Thr1259Arg)
c.3176C>G (p.Thr1059Arg)
c.4124C>G (p.Thr1375Arg)
c.4121C>G (p.Thr1374Arg)
c.4040C>G (p.Thr1347Arg)
c.3971C>G (p.Thr1324Arg)
c.3839C>G (p.Thr1280Arg)
c.3707C>G (p.Thr1236Arg)
20g.32436572C>TCA408563951ASXL1c.3860C>T (p.Thr1287Ile)
c.3677C>T (p.Thr1226Ile)
n.6213C>T
c.1870-1858C>T (n.1870-1858C>T)
c.3845C>T (p.Thr1282Ile)
c.3857C>T (p.Thr1286Ile)
c.3830C>T (p.Thr1277Ile)
c.3776C>T (p.Thr1259Ile)
c.3176C>T (p.Thr1059Ile)
c.4124C>T (p.Thr1375Ile)
c.4121C>T (p.Thr1374Ile)
c.4040C>T (p.Thr1347Ile)
c.3971C>T (p.Thr1324Ile)
c.3839C>T (p.Thr1280Ile)
c.3707C>T (p.Thr1236Ile)
20g.32436573A>CCA510467449ASXL1c.3861A>C (p.Thr1287=)
c.3678A>C (p.Thr1226=)
n.6214A>C
c.1870-1857A>C (n.1870-1857A>C)
c.3846A>C (p.Thr1282=)
c.3858A>C (p.Thr1286=)
c.3831A>C (p.Thr1277=)
c.3777A>C (p.Thr1259=)
c.3177A>C (p.Thr1059=)
c.4125A>C (p.Thr1375=)
c.4122A>C (p.Thr1374=)
c.4041A>C (p.Thr1347=)
c.3972A>C (p.Thr1324=)
c.3840A>C (p.Thr1280=)
c.3708A>C (p.Thr1236=)
20g.32436573A>GCA510467450ASXL1c.3861A>G (p.Thr1287=)
c.3678A>G (p.Thr1226=)
n.6214A>G
c.1870-1857A>G (n.1870-1857A>G)
c.3846A>G (p.Thr1282=)
c.3858A>G (p.Thr1286=)
c.3831A>G (p.Thr1277=)
c.3777A>G (p.Thr1259=)
c.3177A>G (p.Thr1059=)
c.4125A>G (p.Thr1375=)
c.4122A>G (p.Thr1374=)
c.4041A>G (p.Thr1347=)
c.3972A>G (p.Thr1324=)
c.3840A>G (p.Thr1280=)
c.3708A>G (p.Thr1236=)
 gnomAD v4
20g.32436573A>TCA510467451ASXL1c.3861A>T (p.Thr1287=)
c.3678A>T (p.Thr1226=)
n.6214A>T
c.1870-1857A>T (n.1870-1857A>T)
c.3846A>T (p.Thr1282=)
c.3858A>T (p.Thr1286=)
c.3831A>T (p.Thr1277=)
c.3777A>T (p.Thr1259=)
c.3177A>T (p.Thr1059=)
c.4125A>T (p.Thr1375=)
c.4122A>T (p.Thr1374=)
c.4041A>T (p.Thr1347=)
c.3972A>T (p.Thr1324=)
c.3840A>T (p.Thr1280=)
c.3708A>T (p.Thr1236=)
20g.32436574G>ACA408563952ASXL1c.3862G>A (p.Gly1288Ser)
c.3679G>A (p.Gly1227Ser)
n.6215G>A
c.1870-1856G>A (n.1870-1856G>A)
c.3847G>A (p.Gly1283Ser)
c.3859G>A (p.Gly1287Ser)
c.3832G>A (p.Gly1278Ser)
c.3778G>A (p.Gly1260Ser)
c.3178G>A (p.Gly1060Ser)
c.4126G>A (p.Gly1376Ser)
c.4123G>A (p.Gly1375Ser)
c.4042G>A (p.Gly1348Ser)
c.3973G>A (p.Gly1325Ser)
c.3841G>A (p.Gly1281Ser)
c.3709G>A (p.Gly1237Ser)
 dbSNP
20g.32436574G>CCA408563953ASXL1c.3862G>C (p.Gly1288Arg)
c.3679G>C (p.Gly1227Arg)
n.6215G>C
c.1870-1856G>C (n.1870-1856G>C)
c.3847G>C (p.Gly1283Arg)
c.3859G>C (p.Gly1287Arg)
c.3832G>C (p.Gly1278Arg)
c.3778G>C (p.Gly1260Arg)
c.3178G>C (p.Gly1060Arg)
c.4126G>C (p.Gly1376Arg)
c.4123G>C (p.Gly1375Arg)
c.4042G>C (p.Gly1348Arg)
c.3973G>C (p.Gly1325Arg)
c.3841G>C (p.Gly1281Arg)
c.3709G>C (p.Gly1237Arg)
20g.32436574G>TCA408563954ASXL1c.3862G>T (p.Gly1288Cys)
c.3679G>T (p.Gly1227Cys)
n.6215G>T
c.1870-1856G>T (n.1870-1856G>T)
c.3847G>T (p.Gly1283Cys)
c.3859G>T (p.Gly1287Cys)
c.3832G>T (p.Gly1278Cys)
c.3778G>T (p.Gly1260Cys)
c.3178G>T (p.Gly1060Cys)
c.4126G>T (p.Gly1376Cys)
c.4123G>T (p.Gly1375Cys)
c.4042G>T (p.Gly1348Cys)
c.3973G>T (p.Gly1325Cys)
c.3841G>T (p.Gly1281Cys)
c.3709G>T (p.Gly1237Cys)
20g.32436575G>ACA408563955ASXL1c.3863G>A (p.Gly1288Asp)
c.3680G>A (p.Gly1227Asp)
n.6216G>A
c.1870-1855G>A (n.1870-1855G>A)
c.3848G>A (p.Gly1283Asp)
c.3860G>A (p.Gly1287Asp)
c.3833G>A (p.Gly1278Asp)
c.3779G>A (p.Gly1260Asp)
c.3179G>A (p.Gly1060Asp)
c.4127G>A (p.Gly1376Asp)
c.4124G>A (p.Gly1375Asp)
c.4043G>A (p.Gly1348Asp)
c.3974G>A (p.Gly1325Asp)
c.3842G>A (p.Gly1281Asp)
c.3710G>A (p.Gly1237Asp)
 dbSNP COSMIC
20g.32436575G>CCA408563956ASXL1c.3863G>C (p.Gly1288Ala)
c.3680G>C (p.Gly1227Ala)
n.6216G>C
c.1870-1855G>C (n.1870-1855G>C)
c.3848G>C (p.Gly1283Ala)
c.3860G>C (p.Gly1287Ala)
c.3833G>C (p.Gly1278Ala)
c.3779G>C (p.Gly1260Ala)
c.3179G>C (p.Gly1060Ala)
c.4127G>C (p.Gly1376Ala)
c.4124G>C (p.Gly1375Ala)
c.4043G>C (p.Gly1348Ala)
c.3974G>C (p.Gly1325Ala)
c.3842G>C (p.Gly1281Ala)
c.3710G>C (p.Gly1237Ala)
20g.32436575G=CA2360293773ASXL1c.3863G= (p.Gly1288=)
c.3680G= (p.Gly1227=)
n.6216G=
c.1870-1855G= (n.1870-1855G=)
c.3848G= (p.Gly1283=)
c.3860G= (p.Gly1287=)
c.3833G= (p.Gly1278=)
c.3779G= (p.Gly1260=)
c.3179G= (p.Gly1060=)
c.4127G= (p.Gly1376=)
c.4124G= (p.Gly1375=)
c.4043G= (p.Gly1348=)
c.3974G= (p.Gly1325=)
c.3842G= (p.Gly1281=)
c.3710G= (p.Gly1237=)
20g.32436575G>TCA408563957ASXL1c.3863G>T (p.Gly1288Val)
c.3680G>T (p.Gly1227Val)
n.6216G>T
c.1870-1855G>T (n.1870-1855G>T)
c.3848G>T (p.Gly1283Val)
c.3860G>T (p.Gly1287Val)
c.3833G>T (p.Gly1278Val)
c.3779G>T (p.Gly1260Val)
c.3179G>T (p.Gly1060Val)
c.4127G>T (p.Gly1376Val)
c.4124G>T (p.Gly1375Val)
c.4043G>T (p.Gly1348Val)
c.3974G>T (p.Gly1325Val)
c.3842G>T (p.Gly1281Val)
c.3710G>T (p.Gly1237Val)
 gnomAD v4
20g.32436576T>ACA510467452ASXL1c.3864T>A (p.Gly1288=)
c.3681T>A (p.Gly1227=)
n.6217T>A
c.1870-1854T>A (n.1870-1854T>A)
c.3849T>A (p.Gly1283=)
c.3861T>A (p.Gly1287=)
c.3834T>A (p.Gly1278=)
c.3780T>A (p.Gly1260=)
c.3180T>A (p.Gly1060=)
c.4128T>A (p.Gly1376=)
c.4125T>A (p.Gly1375=)
c.4044T>A (p.Gly1348=)
c.3975T>A (p.Gly1325=)
c.3843T>A (p.Gly1281=)
c.3711T>A (p.Gly1237=)
 dbSNP
20g.32436576T>CCA510467453ASXL1c.3864T>C (p.Gly1288=)
c.3681T>C (p.Gly1227=)
n.6217T>C
c.1870-1854T>C (n.1870-1854T>C)
c.3849T>C (p.Gly1283=)
c.3861T>C (p.Gly1287=)
c.3834T>C (p.Gly1278=)
c.3780T>C (p.Gly1260=)
c.3180T>C (p.Gly1060=)
c.4128T>C (p.Gly1376=)
c.4125T>C (p.Gly1375=)
c.4044T>C (p.Gly1348=)
c.3975T>C (p.Gly1325=)
c.3843T>C (p.Gly1281=)
c.3711T>C (p.Gly1237=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436576T>GCA510467454ASXL1c.3864T>G (p.Gly1288=)
c.3681T>G (p.Gly1227=)
n.6217T>G
c.1870-1854T>G (n.1870-1854T>G)
c.3849T>G (p.Gly1283=)
c.3861T>G (p.Gly1287=)
c.3834T>G (p.Gly1278=)
c.3780T>G (p.Gly1260=)
c.3180T>G (p.Gly1060=)
c.4128T>G (p.Gly1376=)
c.4125T>G (p.Gly1375=)
c.4044T>G (p.Gly1348=)
c.3975T>G (p.Gly1325=)
c.3843T>G (p.Gly1281=)
c.3711T>G (p.Gly1237=)
20g.32436576T=CA2360293774ASXL1c.3864T= (p.Gly1288=)
c.3681T= (p.Gly1227=)
n.6217T=
c.1870-1854T= (n.1870-1854T=)
c.3849T= (p.Gly1283=)
c.3861T= (p.Gly1287=)
c.3834T= (p.Gly1278=)
c.3780T= (p.Gly1260=)
c.3180T= (p.Gly1060=)
c.4128T= (p.Gly1376=)
c.4125T= (p.Gly1375=)
c.4044T= (p.Gly1348=)
c.3975T= (p.Gly1325=)
c.3843T= (p.Gly1281=)
c.3711T= (p.Gly1237=)
20g.32436577C>ACA510467455ASXL1c.3865C>A (p.Arg1289=)
c.3682C>A (p.Arg1228=)
n.6218C>A
c.1870-1853C>A (n.1870-1853C>A)
c.3850C>A (p.Arg1284=)
c.3862C>A (p.Arg1288=)
c.3835C>A (p.Arg1279=)
c.3781C>A (p.Arg1261=)
c.3181C>A (p.Arg1061=)
c.4129C>A (p.Arg1377=)
c.4126C>A (p.Arg1376=)
c.4045C>A (p.Arg1349=)
c.3976C>A (p.Arg1326=)
c.3844C>A (p.Arg1282=)
c.3712C>A (p.Arg1238=)
20g.32436577C=CA2360293775ASXL1c.3865C= (p.Arg1289=)
c.3682C= (p.Arg1228=)
n.6218C=
c.1870-1853C= (n.1870-1853C=)
c.3850C= (p.Arg1284=)
c.3862C= (p.Arg1288=)
c.3835C= (p.Arg1279=)
c.3781C= (p.Arg1261=)
c.3181C= (p.Arg1061=)
c.4129C= (p.Arg1377=)
c.4126C= (p.Arg1376=)
c.4045C= (p.Arg1349=)
c.3976C= (p.Arg1326=)
c.3844C= (p.Arg1282=)
c.3712C= (p.Arg1238=)
20g.32436577C>GCA408563958ASXL1c.3865C>G (p.Arg1289Gly)
c.3682C>G (p.Arg1228Gly)
n.6218C>G
c.1870-1853C>G (n.1870-1853C>G)
c.3850C>G (p.Arg1284Gly)
c.3862C>G (p.Arg1288Gly)
c.3835C>G (p.Arg1279Gly)
c.3781C>G (p.Arg1261Gly)
c.3181C>G (p.Arg1061Gly)
c.4129C>G (p.Arg1377Gly)
c.4126C>G (p.Arg1376Gly)
c.4045C>G (p.Arg1349Gly)
c.3976C>G (p.Arg1326Gly)
c.3844C>G (p.Arg1282Gly)
c.3712C>G (p.Arg1238Gly)
20g.32436577C>TCA9808917ASXL1c.3865C>T (p.Arg1289Trp)
c.3682C>T (p.Arg1228Trp)
n.6218C>T
c.1870-1853C>T (n.1870-1853C>T)
c.3850C>T (p.Arg1284Trp)
c.3862C>T (p.Arg1288Trp)
c.3835C>T (p.Arg1279Trp)
c.3781C>T (p.Arg1261Trp)
c.3181C>T (p.Arg1061Trp)
c.4129C>T (p.Arg1377Trp)
c.4126C>T (p.Arg1376Trp)
c.4045C>T (p.Arg1349Trp)
c.3976C>T (p.Arg1326Trp)
c.3844C>T (p.Arg1282Trp)
c.3712C>T (p.Arg1238Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436578G>ACA9808918ASXL1c.3866G>A (p.Arg1289Gln)
c.3683G>A (p.Arg1228Gln)
n.6219G>A
c.1870-1852G>A (n.1870-1852G>A)
c.3851G>A (p.Arg1284Gln)
c.3863G>A (p.Arg1288Gln)
c.3836G>A (p.Arg1279Gln)
c.3782G>A (p.Arg1261Gln)
c.3182G>A (p.Arg1061Gln)
c.4130G>A (p.Arg1377Gln)
c.4127G>A (p.Arg1376Gln)
c.4046G>A (p.Arg1349Gln)
c.3977G>A (p.Arg1326Gln)
c.3845G>A (p.Arg1282Gln)
c.3713G>A (p.Arg1238Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436578G>CCA408563960ASXL1c.3866G>C (p.Arg1289Pro)
c.3683G>C (p.Arg1228Pro)
n.6219G>C
c.1870-1852G>C (n.1870-1852G>C)
c.3851G>C (p.Arg1284Pro)
c.3863G>C (p.Arg1288Pro)
c.3836G>C (p.Arg1279Pro)
c.3782G>C (p.Arg1261Pro)
c.3182G>C (p.Arg1061Pro)
c.4130G>C (p.Arg1377Pro)
c.4127G>C (p.Arg1376Pro)
c.4046G>C (p.Arg1349Pro)
c.3977G>C (p.Arg1326Pro)
c.3845G>C (p.Arg1282Pro)
c.3713G>C (p.Arg1238Pro)
20g.32436578G=CA2360293776ASXL1c.3866G= (p.Arg1289=)
c.3683G= (p.Arg1228=)
n.6219G=
c.1870-1852G= (n.1870-1852G=)
c.3851G= (p.Arg1284=)
c.3863G= (p.Arg1288=)
c.3836G= (p.Arg1279=)
c.3782G= (p.Arg1261=)
c.3182G= (p.Arg1061=)
c.4130G= (p.Arg1377=)
c.4127G= (p.Arg1376=)
c.4046G= (p.Arg1349=)
c.3977G= (p.Arg1326=)
c.3845G= (p.Arg1282=)
c.3713G= (p.Arg1238=)
20g.32436578G>TCA408563959ASXL1c.3866G>T (p.Arg1289Leu)
c.3683G>T (p.Arg1228Leu)
n.6219G>T
c.1870-1852G>T (n.1870-1852G>T)
c.3851G>T (p.Arg1284Leu)
c.3863G>T (p.Arg1288Leu)
c.3836G>T (p.Arg1279Leu)
c.3782G>T (p.Arg1261Leu)
c.3182G>T (p.Arg1061Leu)
c.4130G>T (p.Arg1377Leu)
c.4127G>T (p.Arg1376Leu)
c.4046G>T (p.Arg1349Leu)
c.3977G>T (p.Arg1326Leu)
c.3845G>T (p.Arg1282Leu)
c.3713G>T (p.Arg1238Leu)
20g.32436579G>ACA510467456ASXL1c.3867G>A (p.Arg1289=)
c.3684G>A (p.Arg1228=)
n.6220G>A
c.1870-1851G>A (n.1870-1851G>A)
c.3852G>A (p.Arg1284=)
c.3864G>A (p.Arg1288=)
c.3837G>A (p.Arg1279=)
c.3783G>A (p.Arg1261=)
c.3183G>A (p.Arg1061=)
c.4131G>A (p.Arg1377=)
c.4128G>A (p.Arg1376=)
c.4047G>A (p.Arg1349=)
c.3978G>A (p.Arg1326=)
c.3846G>A (p.Arg1282=)
c.3714G>A (p.Arg1238=)
 dbSNP
20g.32436579G>CCA510467457ASXL1c.3867G>C (p.Arg1289=)
c.3684G>C (p.Arg1228=)
n.6220G>C
c.1870-1851G>C (n.1870-1851G>C)
c.3852G>C (p.Arg1284=)
c.3864G>C (p.Arg1288=)
c.3837G>C (p.Arg1279=)
c.3783G>C (p.Arg1261=)
c.3183G>C (p.Arg1061=)
c.4131G>C (p.Arg1377=)
c.4128G>C (p.Arg1376=)
c.4047G>C (p.Arg1349=)
c.3978G>C (p.Arg1326=)
c.3846G>C (p.Arg1282=)
c.3714G>C (p.Arg1238=)
20g.32436579G>TCA510467458ASXL1c.3867G>T (p.Arg1289=)
c.3684G>T (p.Arg1228=)
n.6220G>T
c.1870-1851G>T (n.1870-1851G>T)
c.3852G>T (p.Arg1284=)
c.3864G>T (p.Arg1288=)
c.3837G>T (p.Arg1279=)
c.3783G>T (p.Arg1261=)
c.3183G>T (p.Arg1061=)
c.4131G>T (p.Arg1377=)
c.4128G>T (p.Arg1376=)
c.4047G>T (p.Arg1349=)
c.3978G>T (p.Arg1326=)
c.3846G>T (p.Arg1282=)
c.3714G>T (p.Arg1238=)
20g.32436580G>ACA408563963ASXL1c.3868G>A (p.Ala1290Thr)
c.3685G>A (p.Ala1229Thr)
n.6221G>A
c.1870-1850G>A (n.1870-1850G>A)
c.3853G>A (p.Ala1285Thr)
c.3865G>A (p.Ala1289Thr)
c.3838G>A (p.Ala1280Thr)
c.3784G>A (p.Ala1262Thr)
c.3184G>A (p.Ala1062Thr)
c.4132G>A (p.Ala1378Thr)
c.4129G>A (p.Ala1377Thr)
c.4048G>A (p.Ala1350Thr)
c.3979G>A (p.Ala1327Thr)
c.3847G>A (p.Ala1283Thr)
c.3715G>A (p.Ala1239Thr)
 ClinVar dbSNP
20g.32436580G>CCA408563961ASXL1c.3868G>C (p.Ala1290Pro)
c.3685G>C (p.Ala1229Pro)
n.6221G>C
c.1870-1850G>C (n.1870-1850G>C)
c.3853G>C (p.Ala1285Pro)
c.3865G>C (p.Ala1289Pro)
c.3838G>C (p.Ala1280Pro)
c.3784G>C (p.Ala1262Pro)
c.3184G>C (p.Ala1062Pro)
c.4132G>C (p.Ala1378Pro)
c.4129G>C (p.Ala1377Pro)
c.4048G>C (p.Ala1350Pro)
c.3979G>C (p.Ala1327Pro)
c.3847G>C (p.Ala1283Pro)
c.3715G>C (p.Ala1239Pro)
 dbSNP
20g.32436580G>TCA408563962ASXL1c.3868G>T (p.Ala1290Ser)
c.3685G>T (p.Ala1229Ser)
n.6221G>T
c.1870-1850G>T (n.1870-1850G>T)
c.3853G>T (p.Ala1285Ser)
c.3865G>T (p.Ala1289Ser)
c.3838G>T (p.Ala1280Ser)
c.3784G>T (p.Ala1262Ser)
c.3184G>T (p.Ala1062Ser)
c.4132G>T (p.Ala1378Ser)
c.4129G>T (p.Ala1377Ser)
c.4048G>T (p.Ala1350Ser)
c.3979G>T (p.Ala1327Ser)
c.3847G>T (p.Ala1283Ser)
c.3715G>T (p.Ala1239Ser)
20g.32436581C>ACA408563964ASXL1c.3869C>A (p.Ala1290Asp)
c.3686C>A (p.Ala1229Asp)
n.6222C>A
c.1870-1849C>A (n.1870-1849C>A)
c.3854C>A (p.Ala1285Asp)
c.3866C>A (p.Ala1289Asp)
c.3839C>A (p.Ala1280Asp)
c.3785C>A (p.Ala1262Asp)
c.3185C>A (p.Ala1062Asp)
c.4133C>A (p.Ala1378Asp)
c.4130C>A (p.Ala1377Asp)
c.4049C>A (p.Ala1350Asp)
c.3980C>A (p.Ala1327Asp)
c.3848C>A (p.Ala1283Asp)
c.3716C>A (p.Ala1239Asp)
20g.32436581C=CA2360293777ASXL1c.3869C= (p.Ala1290=)
c.3686C= (p.Ala1229=)
n.6222C=
c.1870-1849C= (n.1870-1849C=)
c.3854C= (p.Ala1285=)
c.3866C= (p.Ala1289=)
c.3839C= (p.Ala1280=)
c.3785C= (p.Ala1262=)
c.3185C= (p.Ala1062=)
c.4133C= (p.Ala1378=)
c.4130C= (p.Ala1377=)
c.4049C= (p.Ala1350=)
c.3980C= (p.Ala1327=)
c.3848C= (p.Ala1283=)
c.3716C= (p.Ala1239=)
20g.32436581C>GCA408563965ASXL1c.3869C>G (p.Ala1290Gly)
c.3686C>G (p.Ala1229Gly)
n.6222C>G
c.1870-1849C>G (n.1870-1849C>G)
c.3854C>G (p.Ala1285Gly)
c.3866C>G (p.Ala1289Gly)
c.3839C>G (p.Ala1280Gly)
c.3785C>G (p.Ala1262Gly)
c.3185C>G (p.Ala1062Gly)
c.4133C>G (p.Ala1378Gly)
c.4130C>G (p.Ala1377Gly)
c.4049C>G (p.Ala1350Gly)
c.3980C>G (p.Ala1327Gly)
c.3848C>G (p.Ala1283Gly)
c.3716C>G (p.Ala1239Gly)
20g.32436581C>TCA9808919ASXL1c.3869C>T (p.Ala1290Val)
c.3686C>T (p.Ala1229Val)
n.6222C>T
c.1870-1849C>T (n.1870-1849C>T)
c.3854C>T (p.Ala1285Val)
c.3866C>T (p.Ala1289Val)
c.3839C>T (p.Ala1280Val)
c.3785C>T (p.Ala1262Val)
c.3185C>T (p.Ala1062Val)
c.4133C>T (p.Ala1378Val)
c.4130C>T (p.Ala1377Val)
c.4049C>T (p.Ala1350Val)
c.3980C>T (p.Ala1327Val)
c.3848C>T (p.Ala1283Val)
c.3716C>T (p.Ala1239Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436582C>ACA510467459ASXL1c.3870C>A (p.Ala1290=)
c.3687C>A (p.Ala1229=)
n.6223C>A
c.1870-1848C>A (n.1870-1848C>A)
c.3855C>A (p.Ala1285=)
c.3867C>A (p.Ala1289=)
c.3840C>A (p.Ala1280=)
c.3786C>A (p.Ala1262=)
c.3186C>A (p.Ala1062=)
c.4134C>A (p.Ala1378=)
c.4131C>A (p.Ala1377=)
c.4050C>A (p.Ala1350=)
c.3981C>A (p.Ala1327=)
c.3849C>A (p.Ala1283=)
c.3717C>A (p.Ala1239=)
20g.32436582C>GCA510467460ASXL1c.3870C>G (p.Ala1290=)
c.3687C>G (p.Ala1229=)
n.6223C>G
c.1870-1848C>G (n.1870-1848C>G)
c.3855C>G (p.Ala1285=)
c.3867C>G (p.Ala1289=)
c.3840C>G (p.Ala1280=)
c.3786C>G (p.Ala1262=)
c.3186C>G (p.Ala1062=)
c.4134C>G (p.Ala1378=)
c.4131C>G (p.Ala1377=)
c.4050C>G (p.Ala1350=)
c.3981C>G (p.Ala1327=)
c.3849C>G (p.Ala1283=)
c.3717C>G (p.Ala1239=)
 dbSNP
20g.32436582C>TCA510467461ASXL1c.3870C>T (p.Ala1290=)
c.3687C>T (p.Ala1229=)
n.6223C>T
c.1870-1848C>T (n.1870-1848C>T)
c.3855C>T (p.Ala1285=)
c.3867C>T (p.Ala1289=)
c.3840C>T (p.Ala1280=)
c.3786C>T (p.Ala1262=)
c.3186C>T (p.Ala1062=)
c.4134C>T (p.Ala1378=)
c.4131C>T (p.Ala1377=)
c.4050C>T (p.Ala1350=)
c.3981C>T (p.Ala1327=)
c.3849C>T (p.Ala1283=)
c.3717C>T (p.Ala1239=)
 dbSNP
20g.32436583C>ACA408563966ASXL1c.3871C>A (p.Leu1291Met)
c.3688C>A (p.Leu1230Met)
n.6224C>A
c.1870-1847C>A (n.1870-1847C>A)
c.3856C>A (p.Leu1286Met)
c.3868C>A (p.Leu1290Met)
c.3841C>A (p.Leu1281Met)
c.3787C>A (p.Leu1263Met)
c.3187C>A (p.Leu1063Met)
c.4135C>A (p.Leu1379Met)
c.4132C>A (p.Leu1378Met)
c.4051C>A (p.Leu1351Met)
c.3982C>A (p.Leu1328Met)
c.3850C>A (p.Leu1284Met)
c.3718C>A (p.Leu1240Met)
20g.32436583C>GCA408563967ASXL1c.3871C>G (p.Leu1291Val)
c.3688C>G (p.Leu1230Val)
n.6224C>G
c.1870-1847C>G (n.1870-1847C>G)
c.3856C>G (p.Leu1286Val)
c.3868C>G (p.Leu1290Val)
c.3841C>G (p.Leu1281Val)
c.3787C>G (p.Leu1263Val)
c.3187C>G (p.Leu1063Val)
c.4135C>G (p.Leu1379Val)
c.4132C>G (p.Leu1378Val)
c.4051C>G (p.Leu1351Val)
c.3982C>G (p.Leu1328Val)
c.3850C>G (p.Leu1284Val)
c.3718C>G (p.Leu1240Val)
20g.32436583C>TCA510467462ASXL1c.3871C>T (p.Leu1291=)
c.3688C>T (p.Leu1230=)
n.6224C>T
c.1870-1847C>T (n.1870-1847C>T)
c.3856C>T (p.Leu1286=)
c.3868C>T (p.Leu1290=)
c.3841C>T (p.Leu1281=)
c.3787C>T (p.Leu1263=)
c.3187C>T (p.Leu1063=)
c.4135C>T (p.Leu1379=)
c.4132C>T (p.Leu1378=)
c.4051C>T (p.Leu1351=)
c.3982C>T (p.Leu1328=)
c.3850C>T (p.Leu1284=)
c.3718C>T (p.Leu1240=)
20g.32436584T>ACA408563968ASXL1c.3872T>A (p.Leu1291Gln)
c.3689T>A (p.Leu1230Gln)
n.6225T>A
c.1870-1846T>A (n.1870-1846T>A)
c.3857T>A (p.Leu1286Gln)
c.3869T>A (p.Leu1290Gln)
c.3842T>A (p.Leu1281Gln)
c.3788T>A (p.Leu1263Gln)
c.3188T>A (p.Leu1063Gln)
c.4136T>A (p.Leu1379Gln)
c.4133T>A (p.Leu1378Gln)
c.4052T>A (p.Leu1351Gln)
c.3983T>A (p.Leu1328Gln)
c.3851T>A (p.Leu1284Gln)
c.3719T>A (p.Leu1240Gln)
20g.32436584T>CCA408563969ASXL1c.3872T>C (p.Leu1291Pro)
c.3689T>C (p.Leu1230Pro)
n.6225T>C
c.1870-1846T>C (n.1870-1846T>C)
c.3857T>C (p.Leu1286Pro)
c.3869T>C (p.Leu1290Pro)
c.3842T>C (p.Leu1281Pro)
c.3788T>C (p.Leu1263Pro)
c.3188T>C (p.Leu1063Pro)
c.4136T>C (p.Leu1379Pro)
c.4133T>C (p.Leu1378Pro)
c.4052T>C (p.Leu1351Pro)
c.3983T>C (p.Leu1328Pro)
c.3851T>C (p.Leu1284Pro)
c.3719T>C (p.Leu1240Pro)
20g.32436584T>GCA408563970ASXL1c.3872T>G (p.Leu1291Arg)
c.3689T>G (p.Leu1230Arg)
n.6225T>G
c.1870-1846T>G (n.1870-1846T>G)
c.3857T>G (p.Leu1286Arg)
c.3869T>G (p.Leu1290Arg)
c.3842T>G (p.Leu1281Arg)
c.3788T>G (p.Leu1263Arg)
c.3188T>G (p.Leu1063Arg)
c.4136T>G (p.Leu1379Arg)
c.4133T>G (p.Leu1378Arg)
c.4052T>G (p.Leu1351Arg)
c.3983T>G (p.Leu1328Arg)
c.3851T>G (p.Leu1284Arg)
c.3719T>G (p.Leu1240Arg)
20g.32436585G>ACA510467463ASXL1c.3873G>A (p.Leu1291=)
c.3690G>A (p.Leu1230=)
n.6226G>A
c.1870-1845G>A (n.1870-1845G>A)
c.3858G>A (p.Leu1286=)
c.3870G>A (p.Leu1290=)
c.3843G>A (p.Leu1281=)
c.3789G>A (p.Leu1263=)
c.3189G>A (p.Leu1063=)
c.4137G>A (p.Leu1379=)
c.4134G>A (p.Leu1378=)
c.4053G>A (p.Leu1351=)
c.3984G>A (p.Leu1328=)
c.3852G>A (p.Leu1284=)
c.3720G>A (p.Leu1240=)
 gnomAD v4
20g.32436585G>CCA510467464ASXL1c.3873G>C (p.Leu1291=)
c.3690G>C (p.Leu1230=)
n.6226G>C
c.1870-1845G>C (n.1870-1845G>C)
c.3858G>C (p.Leu1286=)
c.3870G>C (p.Leu1290=)
c.3843G>C (p.Leu1281=)
c.3789G>C (p.Leu1263=)
c.3189G>C (p.Leu1063=)
c.4137G>C (p.Leu1379=)
c.4134G>C (p.Leu1378=)
c.4053G>C (p.Leu1351=)
c.3984G>C (p.Leu1328=)
c.3852G>C (p.Leu1284=)
c.3720G>C (p.Leu1240=)
20g.32436585G>TCA510467465ASXL1c.3873G>T (p.Leu1291=)
c.3690G>T (p.Leu1230=)
n.6226G>T
c.1870-1845G>T (n.1870-1845G>T)
c.3858G>T (p.Leu1286=)
c.3870G>T (p.Leu1290=)
c.3843G>T (p.Leu1281=)
c.3789G>T (p.Leu1263=)
c.3189G>T (p.Leu1063=)
c.4137G>T (p.Leu1379=)
c.4134G>T (p.Leu1378=)
c.4053G>T (p.Leu1351=)
c.3984G>T (p.Leu1328=)
c.3852G>T (p.Leu1284=)
c.3720G>T (p.Leu1240=)
20g.32436586G>ACA408563971ASXL1c.3874G>A (p.Gly1292Ser)
c.3691G>A (p.Gly1231Ser)
n.6227G>A
c.1870-1844G>A (n.1870-1844G>A)
c.3859G>A (p.Gly1287Ser)
c.3871G>A (p.Gly1291Ser)
c.3844G>A (p.Gly1282Ser)
c.3790G>A (p.Gly1264Ser)
c.3190G>A (p.Gly1064Ser)
c.4138G>A (p.Gly1380Ser)
c.4135G>A (p.Gly1379Ser)
c.4054G>A (p.Gly1352Ser)
c.3985G>A (p.Gly1329Ser)
c.3853G>A (p.Gly1285Ser)
c.3721G>A (p.Gly1241Ser)
20g.32436586G>CCA408563972ASXL1c.3874G>C (p.Gly1292Arg)
c.3691G>C (p.Gly1231Arg)
n.6227G>C
c.1870-1844G>C (n.1870-1844G>C)
c.3859G>C (p.Gly1287Arg)
c.3871G>C (p.Gly1291Arg)
c.3844G>C (p.Gly1282Arg)
c.3790G>C (p.Gly1264Arg)
c.3190G>C (p.Gly1064Arg)
c.4138G>C (p.Gly1380Arg)
c.4135G>C (p.Gly1379Arg)
c.4054G>C (p.Gly1352Arg)
c.3985G>C (p.Gly1329Arg)
c.3853G>C (p.Gly1285Arg)
c.3721G>C (p.Gly1241Arg)
 dbSNP
20g.32436586G>TCA408563973ASXL1c.3874G>T (p.Gly1292Cys)
c.3691G>T (p.Gly1231Cys)
n.6227G>T
c.1870-1844G>T (n.1870-1844G>T)
c.3859G>T (p.Gly1287Cys)
c.3871G>T (p.Gly1291Cys)
c.3844G>T (p.Gly1282Cys)
c.3790G>T (p.Gly1264Cys)
c.3190G>T (p.Gly1064Cys)
c.4138G>T (p.Gly1380Cys)
c.4135G>T (p.Gly1379Cys)
c.4054G>T (p.Gly1352Cys)
c.3985G>T (p.Gly1329Cys)
c.3853G>T (p.Gly1285Cys)
c.3721G>T (p.Gly1241Cys)
 dbSNP
20g.32436587G>ACA408563975ASXL1c.3875G>A (p.Gly1292Asp)
c.3692G>A (p.Gly1231Asp)
n.6228G>A
c.1870-1843G>A (n.1870-1843G>A)
c.3860G>A (p.Gly1287Asp)
c.3872G>A (p.Gly1291Asp)
c.3845G>A (p.Gly1282Asp)
c.3791G>A (p.Gly1264Asp)
c.3191G>A (p.Gly1064Asp)
c.4139G>A (p.Gly1380Asp)
c.4136G>A (p.Gly1379Asp)
c.4055G>A (p.Gly1352Asp)
c.3986G>A (p.Gly1329Asp)
c.3854G>A (p.Gly1285Asp)
c.3722G>A (p.Gly1241Asp)
 gnomAD v4
20g.32436587G>CCA408563976ASXL1c.3875G>C (p.Gly1292Ala)
c.3692G>C (p.Gly1231Ala)
n.6228G>C
c.1870-1843G>C (n.1870-1843G>C)
c.3860G>C (p.Gly1287Ala)
c.3872G>C (p.Gly1291Ala)
c.3845G>C (p.Gly1282Ala)
c.3791G>C (p.Gly1264Ala)
c.3191G>C (p.Gly1064Ala)
c.4139G>C (p.Gly1380Ala)
c.4136G>C (p.Gly1379Ala)
c.4055G>C (p.Gly1352Ala)
c.3986G>C (p.Gly1329Ala)
c.3854G>C (p.Gly1285Ala)
c.3722G>C (p.Gly1241Ala)
20g.32436587G=CA2360293778ASXL1c.3875G= (p.Gly1292=)
c.3692G= (p.Gly1231=)
n.6228G=
c.1870-1843G= (n.1870-1843G=)
c.3860G= (p.Gly1287=)
c.3872G= (p.Gly1291=)
c.3845G= (p.Gly1282=)
c.3791G= (p.Gly1264=)
c.3191G= (p.Gly1064=)
c.4139G= (p.Gly1380=)
c.4136G= (p.Gly1379=)
c.4055G= (p.Gly1352=)
c.3986G= (p.Gly1329=)
c.3854G= (p.Gly1285=)
c.3722G= (p.Gly1241=)
20g.32436587G>TCA408563974ASXL1c.3875G>T (p.Gly1292Val)
c.3692G>T (p.Gly1231Val)
n.6228G>T
c.1870-1843G>T (n.1870-1843G>T)
c.3860G>T (p.Gly1287Val)
c.3872G>T (p.Gly1291Val)
c.3845G>T (p.Gly1282Val)
c.3791G>T (p.Gly1264Val)
c.3191G>T (p.Gly1064Val)
c.4139G>T (p.Gly1380Val)
c.4136G>T (p.Gly1379Val)
c.4055G>T (p.Gly1352Val)
c.3986G>T (p.Gly1329Val)
c.3854G>T (p.Gly1285Val)
c.3722G>T (p.Gly1241Val)
 dbSNP gnomAD v2 gnomAD v4
20g.32436588T>ACA510467466ASXL1c.3876T>A (p.Gly1292=)
c.3693T>A (p.Gly1231=)
n.6229T>A
c.1870-1842T>A (n.1870-1842T>A)
c.3861T>A (p.Gly1287=)
c.3873T>A (p.Gly1291=)
c.3846T>A (p.Gly1282=)
c.3792T>A (p.Gly1264=)
c.3192T>A (p.Gly1064=)
c.4140T>A (p.Gly1380=)
c.4137T>A (p.Gly1379=)
c.4056T>A (p.Gly1352=)
c.3987T>A (p.Gly1329=)
c.3855T>A (p.Gly1285=)
c.3723T>A (p.Gly1241=)
20g.32436588T>CCA510467467ASXL1c.3876T>C (p.Gly1292=)
c.3693T>C (p.Gly1231=)
n.6229T>C
c.1870-1842T>C (n.1870-1842T>C)
c.3861T>C (p.Gly1287=)
c.3873T>C (p.Gly1291=)
c.3846T>C (p.Gly1282=)
c.3792T>C (p.Gly1264=)
c.3192T>C (p.Gly1064=)
c.4140T>C (p.Gly1380=)
c.4137T>C (p.Gly1379=)
c.4056T>C (p.Gly1352=)
c.3987T>C (p.Gly1329=)
c.3855T>C (p.Gly1285=)
c.3723T>C (p.Gly1241=)
20g.32436588T>GCA510467468ASXL1c.3876T>G (p.Gly1292=)
c.3693T>G (p.Gly1231=)
n.6229T>G
c.1870-1842T>G (n.1870-1842T>G)
c.3861T>G (p.Gly1287=)
c.3873T>G (p.Gly1291=)
c.3846T>G (p.Gly1282=)
c.3792T>G (p.Gly1264=)
c.3192T>G (p.Gly1064=)
c.4140T>G (p.Gly1380=)
c.4137T>G (p.Gly1379=)
c.4056T>G (p.Gly1352=)
c.3987T>G (p.Gly1329=)
c.3855T>G (p.Gly1285=)
c.3723T>G (p.Gly1241=)
20g.32436589G>ACA408563977ASXL1c.3877G>A (p.Asp1293Asn)
c.3694G>A (p.Asp1232Asn)
n.6230G>A
c.1870-1841G>A (n.1870-1841G>A)
c.3862G>A (p.Asp1288Asn)
c.3874G>A (p.Asp1292Asn)
c.3847G>A (p.Asp1283Asn)
c.3793G>A (p.Asp1265Asn)
c.3193G>A (p.Asp1065Asn)
c.4141G>A (p.Asp1381Asn)
c.4138G>A (p.Asp1380Asn)
c.4057G>A (p.Asp1353Asn)
c.3988G>A (p.Asp1330Asn)
c.3856G>A (p.Asp1286Asn)
c.3724G>A (p.Asp1242Asn)
 dbSNP gnomAD v4
20g.32436589G>CCA408563978ASXL1c.3877G>C (p.Asp1293His)
c.3694G>C (p.Asp1232His)
n.6230G>C
c.1870-1841G>C (n.1870-1841G>C)
c.3862G>C (p.Asp1288His)
c.3874G>C (p.Asp1292His)
c.3847G>C (p.Asp1283His)
c.3793G>C (p.Asp1265His)
c.3193G>C (p.Asp1065His)
c.4141G>C (p.Asp1381His)
c.4138G>C (p.Asp1380His)
c.4057G>C (p.Asp1353His)
c.3988G>C (p.Asp1330His)
c.3856G>C (p.Asp1286His)
c.3724G>C (p.Asp1242His)
20g.32436589G>TCA408563979ASXL1c.3877G>T (p.Asp1293Tyr)
c.3694G>T (p.Asp1232Tyr)
n.6230G>T
c.1870-1841G>T (n.1870-1841G>T)
c.3862G>T (p.Asp1288Tyr)
c.3874G>T (p.Asp1292Tyr)
c.3847G>T (p.Asp1283Tyr)
c.3793G>T (p.Asp1265Tyr)
c.3193G>T (p.Asp1065Tyr)
c.4141G>T (p.Asp1381Tyr)
c.4138G>T (p.Asp1380Tyr)
c.4057G>T (p.Asp1353Tyr)
c.3988G>T (p.Asp1330Tyr)
c.3856G>T (p.Asp1286Tyr)
c.3724G>T (p.Asp1242Tyr)
20g.32436590A=CA2360293779ASXL1c.3878A= (p.Asp1293=)
c.3695A= (p.Asp1232=)
n.6231A=
c.1870-1840A= (n.1870-1840A=)
c.3863A= (p.Asp1288=)
c.3875A= (p.Asp1292=)
c.3848A= (p.Asp1283=)
c.3794A= (p.Asp1265=)
c.3194A= (p.Asp1065=)
c.4142A= (p.Asp1381=)
c.4139A= (p.Asp1380=)
c.4058A= (p.Asp1353=)
c.3989A= (p.Asp1330=)
c.3857A= (p.Asp1286=)
c.3725A= (p.Asp1242=)
20g.32436590A>CCA408563980ASXL1c.3878A>C (p.Asp1293Ala)
c.3695A>C (p.Asp1232Ala)
n.6231A>C
c.1870-1840A>C (n.1870-1840A>C)
c.3863A>C (p.Asp1288Ala)
c.3875A>C (p.Asp1292Ala)
c.3848A>C (p.Asp1283Ala)
c.3794A>C (p.Asp1265Ala)
c.3194A>C (p.Asp1065Ala)
c.4142A>C (p.Asp1381Ala)
c.4139A>C (p.Asp1380Ala)
c.4058A>C (p.Asp1353Ala)
c.3989A>C (p.Asp1330Ala)
c.3857A>C (p.Asp1286Ala)
c.3725A>C (p.Asp1242Ala)
20g.32436590A>GCA408563981ASXL1c.3878A>G (p.Asp1293Gly)
c.3695A>G (p.Asp1232Gly)
n.6231A>G
c.1870-1840A>G (n.1870-1840A>G)
c.3863A>G (p.Asp1288Gly)
c.3875A>G (p.Asp1292Gly)
c.3848A>G (p.Asp1283Gly)
c.3794A>G (p.Asp1265Gly)
c.3194A>G (p.Asp1065Gly)
c.4142A>G (p.Asp1381Gly)
c.4139A>G (p.Asp1380Gly)
c.4058A>G (p.Asp1353Gly)
c.3989A>G (p.Asp1330Gly)
c.3857A>G (p.Asp1286Gly)
c.3725A>G (p.Asp1242Gly)
20g.32436590A>TCA408563982ASXL1c.3878A>T (p.Asp1293Val)
c.3695A>T (p.Asp1232Val)
n.6231A>T
c.1870-1840A>T (n.1870-1840A>T)
c.3863A>T (p.Asp1288Val)
c.3875A>T (p.Asp1292Val)
c.3848A>T (p.Asp1283Val)
c.3794A>T (p.Asp1265Val)
c.3194A>T (p.Asp1065Val)
c.4142A>T (p.Asp1381Val)
c.4139A>T (p.Asp1380Val)
c.4058A>T (p.Asp1353Val)
c.3989A>T (p.Asp1330Val)
c.3857A>T (p.Asp1286Val)
c.3725A>T (p.Asp1242Val)
 dbSNP
20g.32436591T>ACA408563983ASXL1c.3879T>A (p.Asp1293Glu)
c.3696T>A (p.Asp1232Glu)
n.6232T>A
c.1870-1839T>A (n.1870-1839T>A)
c.3864T>A (p.Asp1288Glu)
c.3876T>A (p.Asp1292Glu)
c.3849T>A (p.Asp1283Glu)
c.3795T>A (p.Asp1265Glu)
c.3195T>A (p.Asp1065Glu)
c.4143T>A (p.Asp1381Glu)
c.4140T>A (p.Asp1380Glu)
c.4059T>A (p.Asp1353Glu)
c.3990T>A (p.Asp1330Glu)
c.3858T>A (p.Asp1286Glu)
c.3726T>A (p.Asp1242Glu)
 dbSNP
20g.32436591T>CCA510467469ASXL1c.3879T>C (p.Asp1293=)
c.3696T>C (p.Asp1232=)
n.6232T>C
c.1870-1839T>C (n.1870-1839T>C)
c.3864T>C (p.Asp1288=)
c.3876T>C (p.Asp1292=)
c.3849T>C (p.Asp1283=)
c.3795T>C (p.Asp1265=)
c.3195T>C (p.Asp1065=)
c.4143T>C (p.Asp1381=)
c.4140T>C (p.Asp1380=)
c.4059T>C (p.Asp1353=)
c.3990T>C (p.Asp1330=)
c.3858T>C (p.Asp1286=)
c.3726T>C (p.Asp1242=)
20g.32436591T>GCA408563984ASXL1c.3879T>G (p.Asp1293Glu)
c.3696T>G (p.Asp1232Glu)
n.6232T>G
c.1870-1839T>G (n.1870-1839T>G)
c.3864T>G (p.Asp1288Glu)
c.3876T>G (p.Asp1292Glu)
c.3849T>G (p.Asp1283Glu)
c.3795T>G (p.Asp1265Glu)
c.3195T>G (p.Asp1065Glu)
c.4143T>G (p.Asp1381Glu)
c.4140T>G (p.Asp1380Glu)
c.4059T>G (p.Asp1353Glu)
c.3990T>G (p.Asp1330Glu)
c.3858T>G (p.Asp1286Glu)
c.3726T>G (p.Asp1242Glu)
20g.32436591_32436592delinsTCCA2360293780ASXL1c.3879_3880delinsTC (p.Asp1293=)
c.3696_3697delinsTC (p.Asp1232=)
n.6232_6233delinsTC
c.1870-1839_1870-1838delinsTC (n.1870-1839_1870-1838delinsTC)
c.3864_3865delinsTC (p.Asp1288=)
c.3876_3877delinsTC (p.Asp1292=)
c.3849_3850delinsTC (p.Asp1283=)
c.3795_3796delinsTC (p.Asp1265=)
c.3195_3196delinsTC (p.Asp1065=)
c.4143_4144delinsTC (p.Asp1381=)
c.4140_4141delinsTC (p.Asp1380=)
c.4059_4060delinsTC (p.Asp1353=)
c.3990_3991delinsTC (p.Asp1330=)
c.3858_3859delinsTC (p.Asp1286=)
c.3726_3727delinsTC (p.Asp1242=)
20g.32436592delCA635268569ASXL1c.3880del (p.Gln1294ArgfsTer?)
c.3697del (p.Gln1233ArgfsTer?)
n.6233del
c.1870-1838del (n.1870-1838del)
c.3865del (p.Gln1289ArgfsTer?)
c.3877del (p.Gln1293ArgfsTer?)
c.3850del (p.Gln1284ArgfsTer?)
c.3796del (p.Gln1266ArgfsTer?)
c.3196del (p.Gln1066ArgfsTer?)
c.4144del (p.Gln1382ArgfsTer?)
c.4141del (p.Gln1381ArgfsTer?)
c.4060del (p.Gln1354ArgfsTer?)
c.3991del (p.Gln1331ArgfsTer?)
c.3859del (p.Gln1287ArgfsTer?)
c.3727del (p.Gln1243ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
20g.32436592C>ACA408563985ASXL1c.3880C>A (p.Gln1294Lys)
c.3697C>A (p.Gln1233Lys)
n.6233C>A
c.1870-1838C>A (n.1870-1838C>A)
c.3865C>A (p.Gln1289Lys)
c.3877C>A (p.Gln1293Lys)
c.3850C>A (p.Gln1284Lys)
c.3796C>A (p.Gln1266Lys)
c.3196C>A (p.Gln1066Lys)
c.4144C>A (p.Gln1382Lys)
c.4141C>A (p.Gln1381Lys)
c.4060C>A (p.Gln1354Lys)
c.3991C>A (p.Gln1331Lys)
c.3859C>A (p.Gln1287Lys)
c.3727C>A (p.Gln1243Lys)
 gnomAD v4
20g.32436592C>GCA408563986ASXL1c.3880C>G (p.Gln1294Glu)
c.3697C>G (p.Gln1233Glu)
n.6233C>G
c.1870-1838C>G (n.1870-1838C>G)
c.3865C>G (p.Gln1289Glu)
c.3877C>G (p.Gln1293Glu)
c.3850C>G (p.Gln1284Glu)
c.3796C>G (p.Gln1266Glu)
c.3196C>G (p.Gln1066Glu)
c.4144C>G (p.Gln1382Glu)
c.4141C>G (p.Gln1381Glu)
c.4060C>G (p.Gln1354Glu)
c.3991C>G (p.Gln1331Glu)
c.3859C>G (p.Gln1287Glu)
c.3727C>G (p.Gln1243Glu)
20g.32436592C>TCA408563987ASXL1c.3880C>T (p.Gln1294Ter)
c.3697C>T (p.Gln1233Ter)
n.6233C>T
c.1870-1838C>T (n.1870-1838C>T)
c.3865C>T (p.Gln1289Ter)
c.3877C>T (p.Gln1293Ter)
c.3850C>T (p.Gln1284Ter)
c.3796C>T (p.Gln1266Ter)
c.3196C>T (p.Gln1066Ter)
c.4144C>T (p.Gln1382Ter)
c.4141C>T (p.Gln1381Ter)
c.4060C>T (p.Gln1354Ter)
c.3991C>T (p.Gln1331Ter)
c.3859C>T (p.Gln1287Ter)
c.3727C>T (p.Gln1243Ter)
 gnomAD v4
20g.32436593A>CCA408563988ASXL1c.3881A>C (p.Gln1294Pro)
c.3698A>C (p.Gln1233Pro)
n.6234A>C
c.1870-1837A>C (n.1870-1837A>C)
c.3866A>C (p.Gln1289Pro)
c.3878A>C (p.Gln1293Pro)
c.3851A>C (p.Gln1284Pro)
c.3797A>C (p.Gln1266Pro)
c.3197A>C (p.Gln1066Pro)
c.4145A>C (p.Gln1382Pro)
c.4142A>C (p.Gln1381Pro)
c.4061A>C (p.Gln1354Pro)
c.3992A>C (p.Gln1331Pro)
c.3860A>C (p.Gln1287Pro)
c.3728A>C (p.Gln1243Pro)
20g.32436593A>GCA408563989ASXL1c.3881A>G (p.Gln1294Arg)
c.3698A>G (p.Gln1233Arg)
n.6234A>G
c.1870-1837A>G (n.1870-1837A>G)
c.3866A>G (p.Gln1289Arg)
c.3878A>G (p.Gln1293Arg)
c.3851A>G (p.Gln1284Arg)
c.3797A>G (p.Gln1266Arg)
c.3197A>G (p.Gln1066Arg)
c.4145A>G (p.Gln1382Arg)
c.4142A>G (p.Gln1381Arg)
c.4061A>G (p.Gln1354Arg)
c.3992A>G (p.Gln1331Arg)
c.3860A>G (p.Gln1287Arg)
c.3728A>G (p.Gln1243Arg)
20g.32436593A>TCA408563990ASXL1c.3881A>T (p.Gln1294Leu)
c.3698A>T (p.Gln1233Leu)
n.6234A>T
c.1870-1837A>T (n.1870-1837A>T)
c.3866A>T (p.Gln1289Leu)
c.3878A>T (p.Gln1293Leu)
c.3851A>T (p.Gln1284Leu)
c.3797A>T (p.Gln1266Leu)
c.3197A>T (p.Gln1066Leu)
c.4145A>T (p.Gln1382Leu)
c.4142A>T (p.Gln1381Leu)
c.4061A>T (p.Gln1354Leu)
c.3992A>T (p.Gln1331Leu)
c.3860A>T (p.Gln1287Leu)
c.3728A>T (p.Gln1243Leu)
 dbSNP
20g.32436594G>ACA510467470ASXL1c.3882G>A (p.Gln1294=)
c.3699G>A (p.Gln1233=)
n.6235G>A
c.1870-1836G>A (n.1870-1836G>A)
c.3867G>A (p.Gln1289=)
c.3879G>A (p.Gln1293=)
c.3852G>A (p.Gln1284=)
c.3798G>A (p.Gln1266=)
c.3198G>A (p.Gln1066=)
c.4146G>A (p.Gln1382=)
c.4143G>A (p.Gln1381=)
c.4062G>A (p.Gln1354=)
c.3993G>A (p.Gln1331=)
c.3861G>A (p.Gln1287=)
c.3729G>A (p.Gln1243=)
 dbSNP
20g.32436594G>CCA408563991ASXL1c.3882G>C (p.Gln1294His)
c.3699G>C (p.Gln1233His)
n.6235G>C
c.1870-1836G>C (n.1870-1836G>C)
c.3867G>C (p.Gln1289His)
c.3879G>C (p.Gln1293His)
c.3852G>C (p.Gln1284His)
c.3798G>C (p.Gln1266His)
c.3198G>C (p.Gln1066His)
c.4146G>C (p.Gln1382His)
c.4143G>C (p.Gln1381His)
c.4062G>C (p.Gln1354His)
c.3993G>C (p.Gln1331His)
c.3861G>C (p.Gln1287His)
c.3729G>C (p.Gln1243His)
20g.32436594G>TCA408563992ASXL1c.3882G>T (p.Gln1294His)
c.3699G>T (p.Gln1233His)
n.6235G>T
c.1870-1836G>T (n.1870-1836G>T)
c.3867G>T (p.Gln1289His)
c.3879G>T (p.Gln1293His)
c.3852G>T (p.Gln1284His)
c.3798G>T (p.Gln1266His)
c.3198G>T (p.Gln1066His)
c.4146G>T (p.Gln1382His)
c.4143G>T (p.Gln1381His)
c.4062G>T (p.Gln1354His)
c.3993G>T (p.Gln1331His)
c.3861G>T (p.Gln1287His)
c.3729G>T (p.Gln1243His)
 dbSNP
20g.32436595A>CCA408563993ASXL1c.3883A>C (p.Ser1295Arg)
c.3700A>C (p.Ser1234Arg)
n.6236A>C
c.1870-1835A>C (n.1870-1835A>C)
c.3868A>C (p.Ser1290Arg)
c.3880A>C (p.Ser1294Arg)
c.3853A>C (p.Ser1285Arg)
c.3799A>C (p.Ser1267Arg)
c.3199A>C (p.Ser1067Arg)
c.4147A>C (p.Ser1383Arg)
c.4144A>C (p.Ser1382Arg)
c.4063A>C (p.Ser1355Arg)
c.3994A>C (p.Ser1332Arg)
c.3862A>C (p.Ser1288Arg)
c.3730A>C (p.Ser1244Arg)
20g.32436595A>GCA408563994ASXL1c.3883A>G (p.Ser1295Gly)
c.3700A>G (p.Ser1234Gly)
n.6236A>G
c.1870-1835A>G (n.1870-1835A>G)
c.3868A>G (p.Ser1290Gly)
c.3880A>G (p.Ser1294Gly)
c.3853A>G (p.Ser1285Gly)
c.3799A>G (p.Ser1267Gly)
c.3199A>G (p.Ser1067Gly)
c.4147A>G (p.Ser1383Gly)
c.4144A>G (p.Ser1382Gly)
c.4063A>G (p.Ser1355Gly)
c.3994A>G (p.Ser1332Gly)
c.3862A>G (p.Ser1288Gly)
c.3730A>G (p.Ser1244Gly)
20g.32436595A>TCA408563995ASXL1c.3883A>T (p.Ser1295Cys)
c.3700A>T (p.Ser1234Cys)
n.6236A>T
c.1870-1835A>T (n.1870-1835A>T)
c.3868A>T (p.Ser1290Cys)
c.3880A>T (p.Ser1294Cys)
c.3853A>T (p.Ser1285Cys)
c.3799A>T (p.Ser1267Cys)
c.3199A>T (p.Ser1067Cys)
c.4147A>T (p.Ser1383Cys)
c.4144A>T (p.Ser1382Cys)
c.4063A>T (p.Ser1355Cys)
c.3994A>T (p.Ser1332Cys)
c.3862A>T (p.Ser1288Cys)
c.3730A>T (p.Ser1244Cys)
20g.32436596G>ACA408563996ASXL1c.3884G>A (p.Ser1295Asn)
c.3701G>A (p.Ser1234Asn)
n.6237G>A
c.1870-1834G>A (n.1870-1834G>A)
c.3869G>A (p.Ser1290Asn)
c.3881G>A (p.Ser1294Asn)
c.3854G>A (p.Ser1285Asn)
c.3800G>A (p.Ser1267Asn)
c.3200G>A (p.Ser1067Asn)
c.4148G>A (p.Ser1383Asn)
c.4145G>A (p.Ser1382Asn)
c.4064G>A (p.Ser1355Asn)
c.3995G>A (p.Ser1332Asn)
c.3863G>A (p.Ser1288Asn)
c.3731G>A (p.Ser1244Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32436596G>CCA408563997ASXL1c.3884G>C (p.Ser1295Thr)
c.3701G>C (p.Ser1234Thr)
n.6237G>C
c.1870-1834G>C (n.1870-1834G>C)
c.3869G>C (p.Ser1290Thr)
c.3881G>C (p.Ser1294Thr)
c.3854G>C (p.Ser1285Thr)
c.3800G>C (p.Ser1267Thr)
c.3200G>C (p.Ser1067Thr)
c.4148G>C (p.Ser1383Thr)
c.4145G>C (p.Ser1382Thr)
c.4064G>C (p.Ser1355Thr)
c.3995G>C (p.Ser1332Thr)
c.3863G>C (p.Ser1288Thr)
c.3731G>C (p.Ser1244Thr)
20g.32436596G=CA2360293781ASXL1c.3884G= (p.Ser1295=)
c.3701G= (p.Ser1234=)
n.6237G=
c.1870-1834G= (n.1870-1834G=)
c.3869G= (p.Ser1290=)
c.3881G= (p.Ser1294=)
c.3854G= (p.Ser1285=)
c.3800G= (p.Ser1267=)
c.3200G= (p.Ser1067=)
c.4148G= (p.Ser1383=)
c.4145G= (p.Ser1382=)
c.4064G= (p.Ser1355=)
c.3995G= (p.Ser1332=)
c.3863G= (p.Ser1288=)
c.3731G= (p.Ser1244=)
20g.32436596G>TCA408563998ASXL1c.3884G>T (p.Ser1295Ile)
c.3701G>T (p.Ser1234Ile)
n.6237G>T
c.1870-1834G>T (n.1870-1834G>T)
c.3869G>T (p.Ser1290Ile)
c.3881G>T (p.Ser1294Ile)
c.3854G>T (p.Ser1285Ile)
c.3800G>T (p.Ser1267Ile)
c.3200G>T (p.Ser1067Ile)
c.4148G>T (p.Ser1383Ile)
c.4145G>T (p.Ser1382Ile)
c.4064G>T (p.Ser1355Ile)
c.3995G>T (p.Ser1332Ile)
c.3863G>T (p.Ser1288Ile)
c.3731G>T (p.Ser1244Ile)
 dbSNP
20g.32436597C>ACA408563999ASXL1c.3885C>A (p.Ser1295Arg)
c.3702C>A (p.Ser1234Arg)
n.6238C>A
c.1870-1833C>A (n.1870-1833C>A)
c.3870C>A (p.Ser1290Arg)
c.3882C>A (p.Ser1294Arg)
c.3855C>A (p.Ser1285Arg)
c.3801C>A (p.Ser1267Arg)
c.3201C>A (p.Ser1067Arg)
c.4149C>A (p.Ser1383Arg)
c.4146C>A (p.Ser1382Arg)
c.4065C>A (p.Ser1355Arg)
c.3996C>A (p.Ser1332Arg)
c.3864C>A (p.Ser1288Arg)
c.3732C>A (p.Ser1244Arg)
20g.32436597C>GCA408564000ASXL1c.3885C>G (p.Ser1295Arg)
c.3702C>G (p.Ser1234Arg)
n.6238C>G
c.1870-1833C>G (n.1870-1833C>G)
c.3870C>G (p.Ser1290Arg)
c.3882C>G (p.Ser1294Arg)
c.3855C>G (p.Ser1285Arg)
c.3801C>G (p.Ser1267Arg)
c.3201C>G (p.Ser1067Arg)
c.4149C>G (p.Ser1383Arg)
c.4146C>G (p.Ser1382Arg)
c.4065C>G (p.Ser1355Arg)
c.3996C>G (p.Ser1332Arg)
c.3864C>G (p.Ser1288Arg)
c.3732C>G (p.Ser1244Arg)
 dbSNP
20g.32436597C>TCA510467471ASXL1c.3885C>T (p.Ser1295=)
c.3702C>T (p.Ser1234=)
n.6238C>T
c.1870-1833C>T (n.1870-1833C>T)
c.3870C>T (p.Ser1290=)
c.3882C>T (p.Ser1294=)
c.3855C>T (p.Ser1285=)
c.3801C>T (p.Ser1267=)
c.3201C>T (p.Ser1067=)
c.4149C>T (p.Ser1383=)
c.4146C>T (p.Ser1382=)
c.4065C>T (p.Ser1355=)
c.3996C>T (p.Ser1332=)
c.3864C>T (p.Ser1288=)
c.3732C>T (p.Ser1244=)
20g.32436598A>CCA408564001ASXL1c.3886A>C (p.Asn1296His)
c.3703A>C (p.Asn1235His)
n.6239A>C
c.1870-1832A>C (n.1870-1832A>C)
c.3871A>C (p.Asn1291His)
c.3883A>C (p.Asn1295His)
c.3856A>C (p.Asn1286His)
c.3802A>C (p.Asn1268His)
c.3202A>C (p.Asn1068His)
c.4150A>C (p.Asn1384His)
c.4147A>C (p.Asn1383His)
c.4066A>C (p.Asn1356His)
c.3997A>C (p.Asn1333His)
c.3865A>C (p.Asn1289His)
c.3733A>C (p.Asn1245His)
20g.32436598A>GCA408564002ASXL1c.3886A>G (p.Asn1296Asp)
c.3703A>G (p.Asn1235Asp)
n.6239A>G
c.1870-1832A>G (n.1870-1832A>G)
c.3871A>G (p.Asn1291Asp)
c.3883A>G (p.Asn1295Asp)
c.3856A>G (p.Asn1286Asp)
c.3802A>G (p.Asn1268Asp)
c.3202A>G (p.Asn1068Asp)
c.4150A>G (p.Asn1384Asp)
c.4147A>G (p.Asn1383Asp)
c.4066A>G (p.Asn1356Asp)
c.3997A>G (p.Asn1333Asp)
c.3865A>G (p.Asn1289Asp)
c.3733A>G (p.Asn1245Asp)
20g.32436598A>TCA408564003ASXL1c.3886A>T (p.Asn1296Tyr)
c.3703A>T (p.Asn1235Tyr)
n.6239A>T
c.1870-1832A>T (n.1870-1832A>T)
c.3871A>T (p.Asn1291Tyr)
c.3883A>T (p.Asn1295Tyr)
c.3856A>T (p.Asn1286Tyr)
c.3802A>T (p.Asn1268Tyr)
c.3202A>T (p.Asn1068Tyr)
c.4150A>T (p.Asn1384Tyr)
c.4147A>T (p.Asn1383Tyr)
c.4066A>T (p.Asn1356Tyr)
c.3997A>T (p.Asn1333Tyr)
c.3865A>T (p.Asn1289Tyr)
c.3733A>T (p.Asn1245Tyr)
20g.32436599A>CCA408564004ASXL1c.3887A>C (p.Asn1296Thr)
c.3704A>C (p.Asn1235Thr)
n.6240A>C
c.1870-1831A>C (n.1870-1831A>C)
c.3872A>C (p.Asn1291Thr)
c.3884A>C (p.Asn1295Thr)
c.3857A>C (p.Asn1286Thr)
c.3803A>C (p.Asn1268Thr)
c.3203A>C (p.Asn1068Thr)
c.4151A>C (p.Asn1384Thr)
c.4148A>C (p.Asn1383Thr)
c.4067A>C (p.Asn1356Thr)
c.3998A>C (p.Asn1333Thr)
c.3866A>C (p.Asn1289Thr)
c.3734A>C (p.Asn1245Thr)
20g.32436599A>GCA408564005ASXL1c.3887A>G (p.Asn1296Ser)
c.3704A>G (p.Asn1235Ser)
n.6240A>G
c.1870-1831A>G (n.1870-1831A>G)
c.3872A>G (p.Asn1291Ser)
c.3884A>G (p.Asn1295Ser)
c.3857A>G (p.Asn1286Ser)
c.3803A>G (p.Asn1268Ser)
c.3203A>G (p.Asn1068Ser)
c.4151A>G (p.Asn1384Ser)
c.4148A>G (p.Asn1383Ser)
c.4067A>G (p.Asn1356Ser)
c.3998A>G (p.Asn1333Ser)
c.3866A>G (p.Asn1289Ser)
c.3734A>G (p.Asn1245Ser)
20g.32436599A>TCA408564006ASXL1c.3887A>T (p.Asn1296Ile)
c.3704A>T (p.Asn1235Ile)
n.6240A>T
c.1870-1831A>T (n.1870-1831A>T)
c.3872A>T (p.Asn1291Ile)
c.3884A>T (p.Asn1295Ile)
c.3857A>T (p.Asn1286Ile)
c.3803A>T (p.Asn1268Ile)
c.3203A>T (p.Asn1068Ile)
c.4151A>T (p.Asn1384Ile)
c.4148A>T (p.Asn1383Ile)
c.4067A>T (p.Asn1356Ile)
c.3998A>T (p.Asn1333Ile)
c.3866A>T (p.Asn1289Ile)
c.3734A>T (p.Asn1245Ile)
20g.32436600T>ACA9808920ASXL1c.3888T>A (p.Asn1296Lys)
c.3705T>A (p.Asn1235Lys)
n.6241T>A
c.1870-1830T>A (n.1870-1830T>A)
c.3873T>A (p.Asn1291Lys)
c.3885T>A (p.Asn1295Lys)
c.3858T>A (p.Asn1286Lys)
c.3804T>A (p.Asn1268Lys)
c.3204T>A (p.Asn1068Lys)
c.4152T>A (p.Asn1384Lys)
c.4149T>A (p.Asn1383Lys)
c.4068T>A (p.Asn1356Lys)
c.3999T>A (p.Asn1333Lys)
c.3867T>A (p.Asn1289Lys)
c.3735T>A (p.Asn1245Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436600T>CCA510467472ASXL1c.3888T>C (p.Asn1296=)
c.3705T>C (p.Asn1235=)
n.6241T>C
c.1870-1830T>C (n.1870-1830T>C)
c.3873T>C (p.Asn1291=)
c.3885T>C (p.Asn1295=)
c.3858T>C (p.Asn1286=)
c.3804T>C (p.Asn1268=)
c.3204T>C (p.Asn1068=)
c.4152T>C (p.Asn1384=)
c.4149T>C (p.Asn1383=)
c.4068T>C (p.Asn1356=)
c.3999T>C (p.Asn1333=)
c.3867T>C (p.Asn1289=)
c.3735T>C (p.Asn1245=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436600T>GCA408564007ASXL1c.3888T>G (p.Asn1296Lys)
c.3705T>G (p.Asn1235Lys)
n.6241T>G
c.1870-1830T>G (n.1870-1830T>G)
c.3873T>G (p.Asn1291Lys)
c.3885T>G (p.Asn1295Lys)
c.3858T>G (p.Asn1286Lys)
c.3804T>G (p.Asn1268Lys)
c.3204T>G (p.Asn1068Lys)
c.4152T>G (p.Asn1384Lys)
c.4149T>G (p.Asn1383Lys)
c.4068T>G (p.Asn1356Lys)
c.3999T>G (p.Asn1333Lys)
c.3867T>G (p.Asn1289Lys)
c.3735T>G (p.Asn1245Lys)
20g.32436600T=CA2360293782ASXL1c.3888T= (p.Asn1296=)
c.3705T= (p.Asn1235=)
n.6241T=
c.1870-1830T= (n.1870-1830T=)
c.3873T= (p.Asn1291=)
c.3885T= (p.Asn1295=)
c.3858T= (p.Asn1286=)
c.3804T= (p.Asn1268=)
c.3204T= (p.Asn1068=)
c.4152T= (p.Asn1384=)
c.4149T= (p.Asn1383=)
c.4068T= (p.Asn1356=)
c.3999T= (p.Asn1333=)
c.3867T= (p.Asn1289=)
c.3735T= (p.Asn1245=)
20g.32436601G>ACA157044ASXL1c.3889G>A (p.Val1297Ile)
c.3706G>A (p.Val1236Ile)
n.6242G>A
c.1870-1829G>A (n.1870-1829G>A)
c.3874G>A (p.Val1292Ile)
c.3886G>A (p.Val1296Ile)
c.3859G>A (p.Val1287Ile)
c.3805G>A (p.Val1269Ile)
c.3205G>A (p.Val1069Ile)
c.4153G>A (p.Val1385Ile)
c.4150G>A (p.Val1384Ile)
c.4069G>A (p.Val1357Ile)
c.4000G>A (p.Val1334Ile)
c.3868G>A (p.Val1290Ile)
c.3736G>A (p.Val1246Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436601G>CCA408564008ASXL1c.3889G>C (p.Val1297Leu)
c.3706G>C (p.Val1236Leu)
n.6242G>C
c.1870-1829G>C (n.1870-1829G>C)
c.3874G>C (p.Val1292Leu)
c.3886G>C (p.Val1296Leu)
c.3859G>C (p.Val1287Leu)
c.3805G>C (p.Val1269Leu)
c.3205G>C (p.Val1069Leu)
c.4153G>C (p.Val1385Leu)
c.4150G>C (p.Val1384Leu)
c.4069G>C (p.Val1357Leu)
c.4000G>C (p.Val1334Leu)
c.3868G>C (p.Val1290Leu)
c.3736G>C (p.Val1246Leu)
 dbSNP
20g.32436601G=CA2360293783ASXL1c.3889G= (p.Val1297=)
c.3706G= (p.Val1236=)
n.6242G=
c.1870-1829G= (n.1870-1829G=)
c.3874G= (p.Val1292=)
c.3886G= (p.Val1296=)
c.3859G= (p.Val1287=)
c.3805G= (p.Val1269=)
c.3205G= (p.Val1069=)
c.4153G= (p.Val1385=)
c.4150G= (p.Val1384=)
c.4069G= (p.Val1357=)
c.4000G= (p.Val1334=)
c.3868G= (p.Val1290=)
c.3736G= (p.Val1246=)
20g.32436601G>TCA408564009ASXL1c.3889G>T (p.Val1297Phe)
c.3706G>T (p.Val1236Phe)
n.6242G>T
c.1870-1829G>T (n.1870-1829G>T)
c.3874G>T (p.Val1292Phe)
c.3886G>T (p.Val1296Phe)
c.3859G>T (p.Val1287Phe)
c.3805G>T (p.Val1269Phe)
c.3205G>T (p.Val1069Phe)
c.4153G>T (p.Val1385Phe)
c.4150G>T (p.Val1384Phe)
c.4069G>T (p.Val1357Phe)
c.4000G>T (p.Val1334Phe)
c.3868G>T (p.Val1290Phe)
c.3736G>T (p.Val1246Phe)
20g.32436602T>ACA408564010ASXL1c.3890T>A (p.Val1297Asp)
c.3707T>A (p.Val1236Asp)
n.6243T>A
c.1870-1828T>A (n.1870-1828T>A)
c.3875T>A (p.Val1292Asp)
c.3887T>A (p.Val1296Asp)
c.3860T>A (p.Val1287Asp)
c.3806T>A (p.Val1269Asp)
c.3206T>A (p.Val1069Asp)
c.4154T>A (p.Val1385Asp)
c.4151T>A (p.Val1384Asp)
c.4070T>A (p.Val1357Asp)
c.4001T>A (p.Val1334Asp)
c.3869T>A (p.Val1290Asp)
c.3737T>A (p.Val1246Asp)
20g.32436602T>CCA408564011ASXL1c.3890T>C (p.Val1297Ala)
c.3707T>C (p.Val1236Ala)
n.6243T>C
c.1870-1828T>C (n.1870-1828T>C)
c.3875T>C (p.Val1292Ala)
c.3887T>C (p.Val1296Ala)
c.3860T>C (p.Val1287Ala)
c.3806T>C (p.Val1269Ala)
c.3206T>C (p.Val1069Ala)
c.4154T>C (p.Val1385Ala)
c.4151T>C (p.Val1384Ala)
c.4070T>C (p.Val1357Ala)
c.4001T>C (p.Val1334Ala)
c.3869T>C (p.Val1290Ala)
c.3737T>C (p.Val1246Ala)
20g.32436602T>GCA408564012ASXL1c.3890T>G (p.Val1297Gly)
c.3707T>G (p.Val1236Gly)
n.6243T>G
c.1870-1828T>G (n.1870-1828T>G)
c.3875T>G (p.Val1292Gly)
c.3887T>G (p.Val1296Gly)
c.3860T>G (p.Val1287Gly)
c.3806T>G (p.Val1269Gly)
c.3206T>G (p.Val1069Gly)
c.4154T>G (p.Val1385Gly)
c.4151T>G (p.Val1384Gly)
c.4070T>G (p.Val1357Gly)
c.4001T>G (p.Val1334Gly)
c.3869T>G (p.Val1290Gly)
c.3737T>G (p.Val1246Gly)
20g.32436603T>ACA510467473ASXL1c.3891T>A (p.Val1297=)
c.3708T>A (p.Val1236=)
n.6244T>A
c.1870-1827T>A (n.1870-1827T>A)
c.3876T>A (p.Val1292=)
c.3888T>A (p.Val1296=)
c.3861T>A (p.Val1287=)
c.3807T>A (p.Val1269=)
c.3207T>A (p.Val1069=)
c.4155T>A (p.Val1385=)
c.4152T>A (p.Val1384=)
c.4071T>A (p.Val1357=)
c.4002T>A (p.Val1334=)
c.3870T>A (p.Val1290=)
c.3738T>A (p.Val1246=)
20g.32436603T>CCA510467474ASXL1c.3891T>C (p.Val1297=)
c.3708T>C (p.Val1236=)
n.6244T>C
c.1870-1827T>C (n.1870-1827T>C)
c.3876T>C (p.Val1292=)
c.3888T>C (p.Val1296=)
c.3861T>C (p.Val1287=)
c.3807T>C (p.Val1269=)
c.3207T>C (p.Val1069=)
c.4155T>C (p.Val1385=)
c.4152T>C (p.Val1384=)
c.4071T>C (p.Val1357=)
c.4002T>C (p.Val1334=)
c.3870T>C (p.Val1290=)
c.3738T>C (p.Val1246=)
20g.32436603T>GCA510467475ASXL1c.3891T>G (p.Val1297=)
c.3708T>G (p.Val1236=)
n.6244T>G
c.1870-1827T>G (n.1870-1827T>G)
c.3876T>G (p.Val1292=)
c.3888T>G (p.Val1296=)
c.3861T>G (p.Val1287=)
c.3807T>G (p.Val1269=)
c.3207T>G (p.Val1069=)
c.4155T>G (p.Val1385=)
c.4152T>G (p.Val1384=)
c.4071T>G (p.Val1357=)
c.4002T>G (p.Val1334=)
c.3870T>G (p.Val1290=)
c.3738T>G (p.Val1246=)
20g.32436604A=CA2360293784ASXL1c.3892A= (p.Thr1298=)
c.3709A= (p.Thr1237=)
n.6245A=
c.1870-1826A= (n.1870-1826A=)
c.3877A= (p.Thr1293=)
c.3889A= (p.Thr1297=)
c.3862A= (p.Thr1288=)
c.3808A= (p.Thr1270=)
c.3208A= (p.Thr1070=)
c.4156A= (p.Thr1386=)
c.4153A= (p.Thr1385=)
c.4072A= (p.Thr1358=)
c.4003A= (p.Thr1335=)
c.3871A= (p.Thr1291=)
c.3739A= (p.Thr1247=)
20g.32436604A>CCA408564013ASXL1c.3892A>C (p.Thr1298Pro)
c.3709A>C (p.Thr1237Pro)
n.6245A>C
c.1870-1826A>C (n.1870-1826A>C)
c.3877A>C (p.Thr1293Pro)
c.3889A>C (p.Thr1297Pro)
c.3862A>C (p.Thr1288Pro)
c.3808A>C (p.Thr1270Pro)
c.3208A>C (p.Thr1070Pro)
c.4156A>C (p.Thr1386Pro)
c.4153A>C (p.Thr1385Pro)
c.4072A>C (p.Thr1358Pro)
c.4003A>C (p.Thr1335Pro)
c.3871A>C (p.Thr1291Pro)
c.3739A>C (p.Thr1247Pro)
20g.32436604A>GCA408564014ASXL1c.3892A>G (p.Thr1298Ala)
c.3709A>G (p.Thr1237Ala)
n.6245A>G
c.1870-1826A>G (n.1870-1826A>G)
c.3877A>G (p.Thr1293Ala)
c.3889A>G (p.Thr1297Ala)
c.3862A>G (p.Thr1288Ala)
c.3808A>G (p.Thr1270Ala)
c.3208A>G (p.Thr1070Ala)
c.4156A>G (p.Thr1386Ala)
c.4153A>G (p.Thr1385Ala)
c.4072A>G (p.Thr1358Ala)
c.4003A>G (p.Thr1335Ala)
c.3871A>G (p.Thr1291Ala)
c.3739A>G (p.Thr1247Ala)
 gnomAD v4
20g.32436604A>TCA408564015ASXL1c.3892A>T (p.Thr1298Ser)
c.3709A>T (p.Thr1237Ser)
n.6245A>T
c.1870-1826A>T (n.1870-1826A>T)
c.3877A>T (p.Thr1293Ser)
c.3889A>T (p.Thr1297Ser)
c.3862A>T (p.Thr1288Ser)
c.3808A>T (p.Thr1270Ser)
c.3208A>T (p.Thr1070Ser)
c.4156A>T (p.Thr1386Ser)
c.4153A>T (p.Thr1385Ser)
c.4072A>T (p.Thr1358Ser)
c.4003A>T (p.Thr1335Ser)
c.3871A>T (p.Thr1291Ser)
c.3739A>T (p.Thr1247Ser)
20g.32436605C>ACA408564016ASXL1c.3893C>A (p.Thr1298Lys)
c.3710C>A (p.Thr1237Lys)
n.6246C>A
c.1870-1825C>A (n.1870-1825C>A)
c.3878C>A (p.Thr1293Lys)
c.3890C>A (p.Thr1297Lys)
c.3863C>A (p.Thr1288Lys)
c.3809C>A (p.Thr1270Lys)
c.3209C>A (p.Thr1070Lys)
c.4157C>A (p.Thr1386Lys)
c.4154C>A (p.Thr1385Lys)
c.4073C>A (p.Thr1358Lys)
c.4004C>A (p.Thr1335Lys)
c.3872C>A (p.Thr1291Lys)
c.3740C>A (p.Thr1247Lys)
 gnomAD v4
20g.32436605C=CA2360293785ASXL1c.3893C= (p.Thr1298=)
c.3710C= (p.Thr1237=)
n.6246C=
c.1870-1825C= (n.1870-1825C=)
c.3878C= (p.Thr1293=)
c.3890C= (p.Thr1297=)
c.3863C= (p.Thr1288=)
c.3809C= (p.Thr1270=)
c.3209C= (p.Thr1070=)
c.4157C= (p.Thr1386=)
c.4154C= (p.Thr1385=)
c.4073C= (p.Thr1358=)
c.4004C= (p.Thr1335=)
c.3872C= (p.Thr1291=)
c.3740C= (p.Thr1247=)
20g.32436605C>GCA408564017ASXL1c.3893C>G (p.Thr1298Arg)
c.3710C>G (p.Thr1237Arg)
n.6246C>G
c.1870-1825C>G (n.1870-1825C>G)
c.3878C>G (p.Thr1293Arg)
c.3890C>G (p.Thr1297Arg)
c.3863C>G (p.Thr1288Arg)
c.3809C>G (p.Thr1270Arg)
c.3209C>G (p.Thr1070Arg)
c.4157C>G (p.Thr1386Arg)
c.4154C>G (p.Thr1385Arg)
c.4073C>G (p.Thr1358Arg)
c.4004C>G (p.Thr1335Arg)
c.3872C>G (p.Thr1291Arg)
c.3740C>G (p.Thr1247Arg)
 dbSNP
20g.32436605C>TCA9808921ASXL1c.3893C>T (p.Thr1298Ile)
c.3710C>T (p.Thr1237Ile)
n.6246C>T
c.1870-1825C>T (n.1870-1825C>T)
c.3878C>T (p.Thr1293Ile)
c.3890C>T (p.Thr1297Ile)
c.3863C>T (p.Thr1288Ile)
c.3809C>T (p.Thr1270Ile)
c.3209C>T (p.Thr1070Ile)
c.4157C>T (p.Thr1386Ile)
c.4154C>T (p.Thr1385Ile)
c.4073C>T (p.Thr1358Ile)
c.4004C>T (p.Thr1335Ile)
c.3872C>T (p.Thr1291Ile)
c.3740C>T (p.Thr1247Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436606_32436609dupCA16043209ASXL1c.3894_3897dup (p.Gln1300ArgfsTer30)
c.3711_3714dup (p.Gln1239ArgfsTer30)
n.6247_6250dup
c.1870-1824_1870-1821dup (n.1870-1824_1870-1821dup)
c.3879_3882dup (p.Gln1295ArgfsTer30)
c.3891_3894dup (p.Gln1299ArgfsTer30)
c.3864_3867dup (p.Gln1290ArgfsTer30)
c.3810_3813dup (p.Gln1272ArgfsTer30)
c.3210_3213dup (p.Gln1072ArgfsTer30)
c.4158_4161dup (p.Gln1388ArgfsTer30)
c.4155_4158dup (p.Gln1387ArgfsTer30)
c.4074_4077dup (p.Gln1360ArgfsTer30)
c.4005_4008dup (p.Gln1337ArgfsTer30)
c.3873_3876dup (p.Gln1293ArgfsTer30)
c.3741_3744dup (p.Gln1249ArgfsTer30)
 ClinVar dbSNP
20g.32436606A>CCA510467476ASXL1c.3894A>C (p.Thr1298=)
c.3711A>C (p.Thr1237=)
n.6247A>C
c.1870-1824A>C (n.1870-1824A>C)
c.3879A>C (p.Thr1293=)
c.3891A>C (p.Thr1297=)
c.3864A>C (p.Thr1288=)
c.3810A>C (p.Thr1270=)
c.3210A>C (p.Thr1070=)
c.4158A>C (p.Thr1386=)
c.4155A>C (p.Thr1385=)
c.4074A>C (p.Thr1358=)
c.4005A>C (p.Thr1335=)
c.3873A>C (p.Thr1291=)
c.3741A>C (p.Thr1247=)
20g.32436606A>GCA510467477ASXL1c.3894A>G (p.Thr1298=)
c.3711A>G (p.Thr1237=)
n.6247A>G
c.1870-1824A>G (n.1870-1824A>G)
c.3879A>G (p.Thr1293=)
c.3891A>G (p.Thr1297=)
c.3864A>G (p.Thr1288=)
c.3810A>G (p.Thr1270=)
c.3210A>G (p.Thr1070=)
c.4158A>G (p.Thr1386=)
c.4155A>G (p.Thr1385=)
c.4074A>G (p.Thr1358=)
c.4005A>G (p.Thr1335=)
c.3873A>G (p.Thr1291=)
c.3741A>G (p.Thr1247=)
20g.32436606A>TCA510467478ASXL1c.3894A>T (p.Thr1298=)
c.3711A>T (p.Thr1237=)
n.6247A>T
c.1870-1824A>T (n.1870-1824A>T)
c.3879A>T (p.Thr1293=)
c.3891A>T (p.Thr1297=)
c.3864A>T (p.Thr1288=)
c.3810A>T (p.Thr1270=)
c.3210A>T (p.Thr1070=)
c.4158A>T (p.Thr1386=)
c.4155A>T (p.Thr1385=)
c.4074A>T (p.Thr1358=)
c.4005A>T (p.Thr1335=)
c.3873A>T (p.Thr1291=)
c.3741A>T (p.Thr1247=)
20g.32436606_32436613delCA2695202316ASXL1c.3894_3901del (p.Gly1299GlufsTer27)
c.3711_3718del (p.Gly1238GlufsTer27)
n.6247_6254del
c.1870-1824_1870-1817del (n.1870-1824_1870-1817del)
c.3879_3886del (p.Gly1294GlufsTer27)
c.3891_3898del (p.Gly1298GlufsTer27)
c.3864_3871del (p.Gly1289GlufsTer27)
c.3810_3817del (p.Gly1271GlufsTer27)
c.3210_3217del (p.Gly1071GlufsTer27)
c.4158_4165del (p.Gly1387GlufsTer27)
c.4155_4162del (p.Gly1386GlufsTer27)
c.4074_4081del (p.Gly1359GlufsTer27)
c.4005_4012del (p.Gly1336GlufsTer27)
c.3873_3880del (p.Gly1292GlufsTer27)
c.3741_3748del (p.Gly1248GlufsTer27)
20g.32436607G>ACA408564018ASXL1c.3895G>A (p.Gly1299Ser)
c.3712G>A (p.Gly1238Ser)
n.6248G>A
c.1870-1823G>A (n.1870-1823G>A)
c.3880G>A (p.Gly1294Ser)
c.3892G>A (p.Gly1298Ser)
c.3865G>A (p.Gly1289Ser)
c.3811G>A (p.Gly1271Ser)
c.3211G>A (p.Gly1071Ser)
c.4159G>A (p.Gly1387Ser)
c.4156G>A (p.Gly1386Ser)
c.4075G>A (p.Gly1359Ser)
c.4006G>A (p.Gly1336Ser)
c.3874G>A (p.Gly1292Ser)
c.3742G>A (p.Gly1248Ser)
20g.32436607G>CCA408564020ASXL1c.3895G>C (p.Gly1299Arg)
c.3712G>C (p.Gly1238Arg)
n.6248G>C
c.1870-1823G>C (n.1870-1823G>C)
c.3880G>C (p.Gly1294Arg)
c.3892G>C (p.Gly1298Arg)
c.3865G>C (p.Gly1289Arg)
c.3811G>C (p.Gly1271Arg)
c.3211G>C (p.Gly1071Arg)
c.4159G>C (p.Gly1387Arg)
c.4156G>C (p.Gly1386Arg)
c.4075G>C (p.Gly1359Arg)
c.4006G>C (p.Gly1336Arg)
c.3874G>C (p.Gly1292Arg)
c.3742G>C (p.Gly1248Arg)
20g.32436607G>TCA408564019ASXL1c.3895G>T (p.Gly1299Cys)
c.3712G>T (p.Gly1238Cys)
n.6248G>T
c.1870-1823G>T (n.1870-1823G>T)
c.3880G>T (p.Gly1294Cys)
c.3892G>T (p.Gly1298Cys)
c.3865G>T (p.Gly1289Cys)
c.3811G>T (p.Gly1271Cys)
c.3211G>T (p.Gly1071Cys)
c.4159G>T (p.Gly1387Cys)
c.4156G>T (p.Gly1386Cys)
c.4075G>T (p.Gly1359Cys)
c.4006G>T (p.Gly1336Cys)
c.3874G>T (p.Gly1292Cys)
c.3742G>T (p.Gly1248Cys)
20g.32436608G>ACA408564021ASXL1c.3896G>A (p.Gly1299Asp)
c.3713G>A (p.Gly1238Asp)
n.6249G>A
c.1870-1822G>A (n.1870-1822G>A)
c.3881G>A (p.Gly1294Asp)
c.3893G>A (p.Gly1298Asp)
c.3866G>A (p.Gly1289Asp)
c.3812G>A (p.Gly1271Asp)
c.3212G>A (p.Gly1071Asp)
c.4160G>A (p.Gly1387Asp)
c.4157G>A (p.Gly1386Asp)
c.4076G>A (p.Gly1359Asp)
c.4007G>A (p.Gly1336Asp)
c.3875G>A (p.Gly1292Asp)
c.3743G>A (p.Gly1248Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436608G>CCA408564023ASXL1c.3896G>C (p.Gly1299Ala)
c.3713G>C (p.Gly1238Ala)
n.6249G>C
c.1870-1822G>C (n.1870-1822G>C)
c.3881G>C (p.Gly1294Ala)
c.3893G>C (p.Gly1298Ala)
c.3866G>C (p.Gly1289Ala)
c.3812G>C (p.Gly1271Ala)
c.3212G>C (p.Gly1071Ala)
c.4160G>C (p.Gly1387Ala)
c.4157G>C (p.Gly1386Ala)
c.4076G>C (p.Gly1359Ala)
c.4007G>C (p.Gly1336Ala)
c.3875G>C (p.Gly1292Ala)
c.3743G>C (p.Gly1248Ala)
 dbSNP
20g.32436608G=CA2360293786ASXL1c.3896G= (p.Gly1299=)
c.3713G= (p.Gly1238=)
n.6249G=
c.1870-1822G= (n.1870-1822G=)
c.3881G= (p.Gly1294=)
c.3893G= (p.Gly1298=)
c.3866G= (p.Gly1289=)
c.3812G= (p.Gly1271=)
c.3212G= (p.Gly1071=)
c.4160G= (p.Gly1387=)
c.4157G= (p.Gly1386=)
c.4076G= (p.Gly1359=)
c.4007G= (p.Gly1336=)
c.3875G= (p.Gly1292=)
c.3743G= (p.Gly1248=)
20g.32436608G>TCA408564022ASXL1c.3896G>T (p.Gly1299Val)
c.3713G>T (p.Gly1238Val)
n.6249G>T
c.1870-1822G>T (n.1870-1822G>T)
c.3881G>T (p.Gly1294Val)
c.3893G>T (p.Gly1298Val)
c.3866G>T (p.Gly1289Val)
c.3812G>T (p.Gly1271Val)
c.3212G>T (p.Gly1071Val)
c.4160G>T (p.Gly1387Val)
c.4157G>T (p.Gly1386Val)
c.4076G>T (p.Gly1359Val)
c.4007G>T (p.Gly1336Val)
c.3875G>T (p.Gly1292Val)
c.3743G>T (p.Gly1248Val)
20g.32436609C>ACA510467481ASXL1c.3897C>A (p.Gly1299=)
c.3714C>A (p.Gly1238=)
n.6250C>A
c.1870-1821C>A (n.1870-1821C>A)
c.3882C>A (p.Gly1294=)
c.3894C>A (p.Gly1298=)
c.3867C>A (p.Gly1289=)
c.3813C>A (p.Gly1271=)
c.3213C>A (p.Gly1071=)
c.4161C>A (p.Gly1387=)
c.4158C>A (p.Gly1386=)
c.4077C>A (p.Gly1359=)
c.4008C>A (p.Gly1336=)
c.3876C>A (p.Gly1292=)
c.3744C>A (p.Gly1248=)
20g.32436609C=CA2360293787ASXL1c.3897C= (p.Gly1299=)
c.3714C= (p.Gly1238=)
n.6250C=
c.1870-1821C= (n.1870-1821C=)
c.3882C= (p.Gly1294=)
c.3894C= (p.Gly1298=)
c.3867C= (p.Gly1289=)
c.3813C= (p.Gly1271=)
c.3213C= (p.Gly1071=)
c.4161C= (p.Gly1387=)
c.4158C= (p.Gly1386=)
c.4077C= (p.Gly1359=)
c.4008C= (p.Gly1336=)
c.3876C= (p.Gly1292=)
c.3744C= (p.Gly1248=)
20g.32436609C>GCA510467480ASXL1c.3897C>G (p.Gly1299=)
c.3714C>G (p.Gly1238=)
n.6250C>G
c.1870-1821C>G (n.1870-1821C>G)
c.3882C>G (p.Gly1294=)
c.3894C>G (p.Gly1298=)
c.3867C>G (p.Gly1289=)
c.3813C>G (p.Gly1271=)
c.3213C>G (p.Gly1071=)
c.4161C>G (p.Gly1387=)
c.4158C>G (p.Gly1386=)
c.4077C>G (p.Gly1359=)
c.4008C>G (p.Gly1336=)
c.3876C>G (p.Gly1292=)
c.3744C>G (p.Gly1248=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436609C>TCA510467479ASXL1c.3897C>T (p.Gly1299=)
c.3714C>T (p.Gly1238=)
n.6250C>T
c.1870-1821C>T (n.1870-1821C>T)
c.3882C>T (p.Gly1294=)
c.3894C>T (p.Gly1298=)
c.3867C>T (p.Gly1289=)
c.3813C>T (p.Gly1271=)
c.3213C>T (p.Gly1071=)
c.4161C>T (p.Gly1387=)
c.4158C>T (p.Gly1386=)
c.4077C>T (p.Gly1359=)
c.4008C>T (p.Gly1336=)
c.3876C>T (p.Gly1292=)
c.3744C>T (p.Gly1248=)
20g.32436610C>ACA408564024ASXL1c.3898C>A (p.Gln1300Lys)
c.3715C>A (p.Gln1239Lys)
n.6251C>A
c.1870-1820C>A (n.1870-1820C>A)
c.3883C>A (p.Gln1295Lys)
c.3895C>A (p.Gln1299Lys)
c.3868C>A (p.Gln1290Lys)
c.3814C>A (p.Gln1272Lys)
c.3214C>A (p.Gln1072Lys)
c.4162C>A (p.Gln1388Lys)
c.4159C>A (p.Gln1387Lys)
c.4078C>A (p.Gln1360Lys)
c.4009C>A (p.Gln1337Lys)
c.3877C>A (p.Gln1293Lys)
c.3745C>A (p.Gln1249Lys)
20g.32436610C>GCA408564025ASXL1c.3898C>G (p.Gln1300Glu)
c.3715C>G (p.Gln1239Glu)
n.6251C>G
c.1870-1820C>G (n.1870-1820C>G)
c.3883C>G (p.Gln1295Glu)
c.3895C>G (p.Gln1299Glu)
c.3868C>G (p.Gln1290Glu)
c.3814C>G (p.Gln1272Glu)
c.3214C>G (p.Gln1072Glu)
c.4162C>G (p.Gln1388Glu)
c.4159C>G (p.Gln1387Glu)
c.4078C>G (p.Gln1360Glu)
c.4009C>G (p.Gln1337Glu)
c.3877C>G (p.Gln1293Glu)
c.3745C>G (p.Gln1249Glu)
20g.32436610C>TCA408564026ASXL1c.3898C>T (p.Gln1300Ter)
c.3715C>T (p.Gln1239Ter)
n.6251C>T
c.1870-1820C>T (n.1870-1820C>T)
c.3883C>T (p.Gln1295Ter)
c.3895C>T (p.Gln1299Ter)
c.3868C>T (p.Gln1290Ter)
c.3814C>T (p.Gln1272Ter)
c.3214C>T (p.Gln1072Ter)
c.4162C>T (p.Gln1388Ter)
c.4159C>T (p.Gln1387Ter)
c.4078C>T (p.Gln1360Ter)
c.4009C>T (p.Gln1337Ter)
c.3877C>T (p.Gln1293Ter)
c.3745C>T (p.Gln1249Ter)
 gnomAD v4 COSMIC COSMIC
20g.32436611A>CCA408564027ASXL1c.3899A>C (p.Gln1300Pro)
c.3716A>C (p.Gln1239Pro)
n.6252A>C
c.1870-1819A>C (n.1870-1819A>C)
c.3884A>C (p.Gln1295Pro)
c.3896A>C (p.Gln1299Pro)
c.3869A>C (p.Gln1290Pro)
c.3815A>C (p.Gln1272Pro)
c.3215A>C (p.Gln1072Pro)
c.4163A>C (p.Gln1388Pro)
c.4160A>C (p.Gln1387Pro)
c.4079A>C (p.Gln1360Pro)
c.4010A>C (p.Gln1337Pro)
c.3878A>C (p.Gln1293Pro)
c.3746A>C (p.Gln1249Pro)
20g.32436611A>GCA408564028ASXL1c.3899A>G (p.Gln1300Arg)
c.3716A>G (p.Gln1239Arg)
n.6252A>G
c.1870-1819A>G (n.1870-1819A>G)
c.3884A>G (p.Gln1295Arg)
c.3896A>G (p.Gln1299Arg)
c.3869A>G (p.Gln1290Arg)
c.3815A>G (p.Gln1272Arg)
c.3215A>G (p.Gln1072Arg)
c.4163A>G (p.Gln1388Arg)
c.4160A>G (p.Gln1387Arg)
c.4079A>G (p.Gln1360Arg)
c.4010A>G (p.Gln1337Arg)
c.3878A>G (p.Gln1293Arg)
c.3746A>G (p.Gln1249Arg)
20g.32436611A>TCA408564029ASXL1c.3899A>T (p.Gln1300Leu)
c.3716A>T (p.Gln1239Leu)
n.6252A>T
c.1870-1819A>T (n.1870-1819A>T)
c.3884A>T (p.Gln1295Leu)
c.3896A>T (p.Gln1299Leu)
c.3869A>T (p.Gln1290Leu)
c.3815A>T (p.Gln1272Leu)
c.3215A>T (p.Gln1072Leu)
c.4163A>T (p.Gln1388Leu)
c.4160A>T (p.Gln1387Leu)
c.4079A>T (p.Gln1360Leu)
c.4010A>T (p.Gln1337Leu)
c.3878A>T (p.Gln1293Leu)
c.3746A>T (p.Gln1249Leu)
20g.32436612A>CCA408564030ASXL1c.3900A>C (p.Gln1300His)
c.3717A>C (p.Gln1239His)
n.6253A>C
c.1870-1818A>C (n.1870-1818A>C)
c.3885A>C (p.Gln1295His)
c.3897A>C (p.Gln1299His)
c.3870A>C (p.Gln1290His)
c.3816A>C (p.Gln1272His)
c.3216A>C (p.Gln1072His)
c.4164A>C (p.Gln1388His)
c.4161A>C (p.Gln1387His)
c.4080A>C (p.Gln1360His)
c.4011A>C (p.Gln1337His)
c.3879A>C (p.Gln1293His)
c.3747A>C (p.Gln1249His)
20g.32436612A>GCA510467482ASXL1c.3900A>G (p.Gln1300=)
c.3717A>G (p.Gln1239=)
n.6253A>G
c.1870-1818A>G (n.1870-1818A>G)
c.3885A>G (p.Gln1295=)
c.3897A>G (p.Gln1299=)
c.3870A>G (p.Gln1290=)
c.3816A>G (p.Gln1272=)
c.3216A>G (p.Gln1072=)
c.4164A>G (p.Gln1388=)
c.4161A>G (p.Gln1387=)
c.4080A>G (p.Gln1360=)
c.4011A>G (p.Gln1337=)
c.3879A>G (p.Gln1293=)
c.3747A>G (p.Gln1249=)
20g.32436612A>TCA408564031ASXL1c.3900A>T (p.Gln1300His)
c.3717A>T (p.Gln1239His)
n.6253A>T
c.1870-1818A>T (n.1870-1818A>T)
c.3885A>T (p.Gln1295His)
c.3897A>T (p.Gln1299His)
c.3870A>T (p.Gln1290His)
c.3816A>T (p.Gln1272His)
c.3216A>T (p.Gln1072His)
c.4164A>T (p.Gln1388His)
c.4161A>T (p.Gln1387His)
c.4080A>T (p.Gln1360His)
c.4011A>T (p.Gln1337His)
c.3879A>T (p.Gln1293His)
c.3747A>T (p.Gln1249His)
 dbSNP
20g.32436613G>ACA408564032ASXL1c.3901G>A (p.Gly1301Arg)
c.3718G>A (p.Gly1240Arg)
n.6254G>A
c.1870-1817G>A (n.1870-1817G>A)
c.3886G>A (p.Gly1296Arg)
c.3898G>A (p.Gly1300Arg)
c.3871G>A (p.Gly1291Arg)
c.3817G>A (p.Gly1273Arg)
c.3217G>A (p.Gly1073Arg)
c.4165G>A (p.Gly1389Arg)
c.4162G>A (p.Gly1388Arg)
c.4081G>A (p.Gly1361Arg)
c.4012G>A (p.Gly1338Arg)
c.3880G>A (p.Gly1294Arg)
c.3748G>A (p.Gly1250Arg)
20g.32436613G>CCA408564033ASXL1c.3901G>C (p.Gly1301Arg)
c.3718G>C (p.Gly1240Arg)
n.6254G>C
c.1870-1817G>C (n.1870-1817G>C)
c.3886G>C (p.Gly1296Arg)
c.3898G>C (p.Gly1300Arg)
c.3871G>C (p.Gly1291Arg)
c.3817G>C (p.Gly1273Arg)
c.3217G>C (p.Gly1073Arg)
c.4165G>C (p.Gly1389Arg)
c.4162G>C (p.Gly1388Arg)
c.4081G>C (p.Gly1361Arg)
c.4012G>C (p.Gly1338Arg)
c.3880G>C (p.Gly1294Arg)
c.3748G>C (p.Gly1250Arg)
20g.32436613G>TCA408564034ASXL1c.3901G>T (p.Gly1301Trp)
c.3718G>T (p.Gly1240Trp)
n.6254G>T
c.1870-1817G>T (n.1870-1817G>T)
c.3886G>T (p.Gly1296Trp)
c.3898G>T (p.Gly1300Trp)
c.3871G>T (p.Gly1291Trp)
c.3817G>T (p.Gly1273Trp)
c.3217G>T (p.Gly1073Trp)
c.4165G>T (p.Gly1389Trp)
c.4162G>T (p.Gly1388Trp)
c.4081G>T (p.Gly1361Trp)
c.4012G>T (p.Gly1338Trp)
c.3880G>T (p.Gly1294Trp)
c.3748G>T (p.Gly1250Trp)
20g.32436614G>ACA408564037ASXL1c.3902G>A (p.Gly1301Glu)
c.3719G>A (p.Gly1240Glu)
n.6255G>A
c.1870-1816G>A (n.1870-1816G>A)
c.3887G>A (p.Gly1296Glu)
c.3899G>A (p.Gly1300Glu)
c.3872G>A (p.Gly1291Glu)
c.3818G>A (p.Gly1273Glu)
c.3218G>A (p.Gly1073Glu)
c.4166G>A (p.Gly1389Glu)
c.4163G>A (p.Gly1388Glu)
c.4082G>A (p.Gly1361Glu)
c.4013G>A (p.Gly1338Glu)
c.3881G>A (p.Gly1294Glu)
c.3749G>A (p.Gly1250Glu)
 dbSNP
20g.32436614G>CCA408564035ASXL1c.3902G>C (p.Gly1301Ala)
c.3719G>C (p.Gly1240Ala)
n.6255G>C
c.1870-1816G>C (n.1870-1816G>C)
c.3887G>C (p.Gly1296Ala)
c.3899G>C (p.Gly1300Ala)
c.3872G>C (p.Gly1291Ala)
c.3818G>C (p.Gly1273Ala)
c.3218G>C (p.Gly1073Ala)
c.4166G>C (p.Gly1389Ala)
c.4163G>C (p.Gly1388Ala)
c.4082G>C (p.Gly1361Ala)
c.4013G>C (p.Gly1338Ala)
c.3881G>C (p.Gly1294Ala)
c.3749G>C (p.Gly1250Ala)
20g.32436614G>TCA408564036ASXL1c.3902G>T (p.Gly1301Val)
c.3719G>T (p.Gly1240Val)
n.6255G>T
c.1870-1816G>T (n.1870-1816G>T)
c.3887G>T (p.Gly1296Val)
c.3899G>T (p.Gly1300Val)
c.3872G>T (p.Gly1291Val)
c.3818G>T (p.Gly1273Val)
c.3218G>T (p.Gly1073Val)
c.4166G>T (p.Gly1389Val)
c.4163G>T (p.Gly1388Val)
c.4082G>T (p.Gly1361Val)
c.4013G>T (p.Gly1338Val)
c.3881G>T (p.Gly1294Val)
c.3749G>T (p.Gly1250Val)
20g.32436615G>ACA313926366ASXL1c.3903G>A (p.Gly1301=)
c.3720G>A (p.Gly1240=)
n.6256G>A
c.1870-1815G>A (n.1870-1815G>A)
c.3888G>A (p.Gly1296=)
c.3900G>A (p.Gly1300=)
c.3873G>A (p.Gly1291=)
c.3819G>A (p.Gly1273=)
c.3219G>A (p.Gly1073=)
c.4167G>A (p.Gly1389=)
c.4164G>A (p.Gly1388=)
c.4083G>A (p.Gly1361=)
c.4014G>A (p.Gly1338=)
c.3882G>A (p.Gly1294=)
c.3750G>A (p.Gly1250=)
 dbSNP gnomAD v4
20g.32436615G>CCA510467483ASXL1c.3903G>C (p.Gly1301=)
c.3720G>C (p.Gly1240=)
n.6256G>C
c.1870-1815G>C (n.1870-1815G>C)
c.3888G>C (p.Gly1296=)
c.3900G>C (p.Gly1300=)
c.3873G>C (p.Gly1291=)
c.3819G>C (p.Gly1273=)
c.3219G>C (p.Gly1073=)
c.4167G>C (p.Gly1389=)
c.4164G>C (p.Gly1388=)
c.4083G>C (p.Gly1361=)
c.4014G>C (p.Gly1338=)
c.3882G>C (p.Gly1294=)
c.3750G>C (p.Gly1250=)
 dbSNP
20g.32436615G=CA2360293788ASXL1c.3903G= (p.Gly1301=)
c.3720G= (p.Gly1240=)
n.6256G=
c.1870-1815G= (n.1870-1815G=)
c.3888G= (p.Gly1296=)
c.3900G= (p.Gly1300=)
c.3873G= (p.Gly1291=)
c.3819G= (p.Gly1273=)
c.3219G= (p.Gly1073=)
c.4167G= (p.Gly1389=)
c.4164G= (p.Gly1388=)
c.4083G= (p.Gly1361=)
c.4014G= (p.Gly1338=)
c.3882G= (p.Gly1294=)
c.3750G= (p.Gly1250=)
20g.32436615G>TCA510467484ASXL1c.3903G>T (p.Gly1301=)
c.3720G>T (p.Gly1240=)
n.6256G>T
c.1870-1815G>T (n.1870-1815G>T)
c.3888G>T (p.Gly1296=)
c.3900G>T (p.Gly1300=)
c.3873G>T (p.Gly1291=)
c.3819G>T (p.Gly1273=)
c.3219G>T (p.Gly1073=)
c.4167G>T (p.Gly1389=)
c.4164G>T (p.Gly1388=)
c.4083G>T (p.Gly1361=)
c.4014G>T (p.Gly1338=)
c.3882G>T (p.Gly1294=)
c.3750G>T (p.Gly1250=)
20g.32436616A>CCA408564038ASXL1c.3904A>C (p.Lys1302Gln)
c.3721A>C (p.Lys1241Gln)
n.6257A>C
c.1870-1814A>C (n.1870-1814A>C)
c.3889A>C (p.Lys1297Gln)
c.3901A>C (p.Lys1301Gln)
c.3874A>C (p.Lys1292Gln)
c.3820A>C (p.Lys1274Gln)
c.3220A>C (p.Lys1074Gln)
c.4168A>C (p.Lys1390Gln)
c.4165A>C (p.Lys1389Gln)
c.4084A>C (p.Lys1362Gln)
c.4015A>C (p.Lys1339Gln)
c.3883A>C (p.Lys1295Gln)
c.3751A>C (p.Lys1251Gln)
20g.32436616A>GCA408564039ASXL1c.3904A>G (p.Lys1302Glu)
c.3721A>G (p.Lys1241Glu)
n.6257A>G
c.1870-1814A>G (n.1870-1814A>G)
c.3889A>G (p.Lys1297Glu)
c.3901A>G (p.Lys1301Glu)
c.3874A>G (p.Lys1292Glu)
c.3820A>G (p.Lys1274Glu)
c.3220A>G (p.Lys1074Glu)
c.4168A>G (p.Lys1390Glu)
c.4165A>G (p.Lys1389Glu)
c.4084A>G (p.Lys1362Glu)
c.4015A>G (p.Lys1339Glu)
c.3883A>G (p.Lys1295Glu)
c.3751A>G (p.Lys1251Glu)
20g.32436616A>TCA408564040ASXL1c.3904A>T (p.Lys1302Ter)
c.3721A>T (p.Lys1241Ter)
n.6257A>T
c.1870-1814A>T (n.1870-1814A>T)
c.3889A>T (p.Lys1297Ter)
c.3901A>T (p.Lys1301Ter)
c.3874A>T (p.Lys1292Ter)
c.3820A>T (p.Lys1274Ter)
c.3220A>T (p.Lys1074Ter)
c.4168A>T (p.Lys1390Ter)
c.4165A>T (p.Lys1389Ter)
c.4084A>T (p.Lys1362Ter)
c.4015A>T (p.Lys1339Ter)
c.3883A>T (p.Lys1295Ter)
c.3751A>T (p.Lys1251Ter)
20g.32436617A>CCA408564041ASXL1c.3905A>C (p.Lys1302Thr)
c.3722A>C (p.Lys1241Thr)
n.6258A>C
c.1870-1813A>C (n.1870-1813A>C)
c.3890A>C (p.Lys1297Thr)
c.3902A>C (p.Lys1301Thr)
c.3875A>C (p.Lys1292Thr)
c.3821A>C (p.Lys1274Thr)
c.3221A>C (p.Lys1074Thr)
c.4169A>C (p.Lys1390Thr)
c.4166A>C (p.Lys1389Thr)
c.4085A>C (p.Lys1362Thr)
c.4016A>C (p.Lys1339Thr)
c.3884A>C (p.Lys1295Thr)
c.3752A>C (p.Lys1251Thr)
20g.32436617A>GCA408564042ASXL1c.3905A>G (p.Lys1302Arg)
c.3722A>G (p.Lys1241Arg)
n.6258A>G
c.1870-1813A>G (n.1870-1813A>G)
c.3890A>G (p.Lys1297Arg)
c.3902A>G (p.Lys1301Arg)
c.3875A>G (p.Lys1292Arg)
c.3821A>G (p.Lys1274Arg)
c.3221A>G (p.Lys1074Arg)
c.4169A>G (p.Lys1390Arg)
c.4166A>G (p.Lys1389Arg)
c.4085A>G (p.Lys1362Arg)
c.4016A>G (p.Lys1339Arg)
c.3884A>G (p.Lys1295Arg)
c.3752A>G (p.Lys1251Arg)
20g.32436617A>TCA408564043ASXL1c.3905A>T (p.Lys1302Met)
c.3722A>T (p.Lys1241Met)
n.6258A>T
c.1870-1813A>T (n.1870-1813A>T)
c.3890A>T (p.Lys1297Met)
c.3902A>T (p.Lys1301Met)
c.3875A>T (p.Lys1292Met)
c.3821A>T (p.Lys1274Met)
c.3221A>T (p.Lys1074Met)
c.4169A>T (p.Lys1390Met)
c.4166A>T (p.Lys1389Met)
c.4085A>T (p.Lys1362Met)
c.4016A>T (p.Lys1339Met)
c.3884A>T (p.Lys1295Met)
c.3752A>T (p.Lys1251Met)
20g.32436618G>ACA510467485ASXL1c.3906G>A (p.Lys1302=)
c.3723G>A (p.Lys1241=)
n.6259G>A
c.1870-1812G>A (n.1870-1812G>A)
c.3891G>A (p.Lys1297=)
c.3903G>A (p.Lys1301=)
c.3876G>A (p.Lys1292=)
c.3822G>A (p.Lys1274=)
c.3222G>A (p.Lys1074=)
c.4170G>A (p.Lys1390=)
c.4167G>A (p.Lys1389=)
c.4086G>A (p.Lys1362=)
c.4017G>A (p.Lys1339=)
c.3885G>A (p.Lys1295=)
c.3753G>A (p.Lys1251=)
 dbSNP
20g.32436618G>CCA408564044ASXL1c.3906G>C (p.Lys1302Asn)
c.3723G>C (p.Lys1241Asn)
n.6259G>C
c.1870-1812G>C (n.1870-1812G>C)
c.3891G>C (p.Lys1297Asn)
c.3903G>C (p.Lys1301Asn)
c.3876G>C (p.Lys1292Asn)
c.3822G>C (p.Lys1274Asn)
c.3222G>C (p.Lys1074Asn)
c.4170G>C (p.Lys1390Asn)
c.4167G>C (p.Lys1389Asn)
c.4086G>C (p.Lys1362Asn)
c.4017G>C (p.Lys1339Asn)
c.3885G>C (p.Lys1295Asn)
c.3753G>C (p.Lys1251Asn)
 dbSNP
20g.32436618G=CA2360293789ASXL1c.3906G= (p.Lys1302=)
c.3723G= (p.Lys1241=)
n.6259G=
c.1870-1812G= (n.1870-1812G=)
c.3891G= (p.Lys1297=)
c.3903G= (p.Lys1301=)
c.3876G= (p.Lys1292=)
c.3822G= (p.Lys1274=)
c.3222G= (p.Lys1074=)
c.4170G= (p.Lys1390=)
c.4167G= (p.Lys1389=)
c.4086G= (p.Lys1362=)
c.4017G= (p.Lys1339=)
c.3885G= (p.Lys1295=)
c.3753G= (p.Lys1251=)
20g.32436618G>TCA408564045ASXL1c.3906G>T (p.Lys1302Asn)
c.3723G>T (p.Lys1241Asn)
n.6259G>T
c.1870-1812G>T (n.1870-1812G>T)
c.3891G>T (p.Lys1297Asn)
c.3903G>T (p.Lys1301Asn)
c.3876G>T (p.Lys1292Asn)
c.3822G>T (p.Lys1274Asn)
c.3222G>T (p.Lys1074Asn)
c.4170G>T (p.Lys1390Asn)
c.4167G>T (p.Lys1389Asn)
c.4086G>T (p.Lys1362Asn)
c.4017G>T (p.Lys1339Asn)
c.3885G>T (p.Lys1295Asn)
c.3753G>T (p.Lys1251Asn)
20g.32436619A>CCA408564046ASXL1c.3907A>C (p.Lys1303Gln)
c.3724A>C (p.Lys1242Gln)
n.6260A>C
c.1870-1811A>C (n.1870-1811A>C)
c.3892A>C (p.Lys1298Gln)
c.3904A>C (p.Lys1302Gln)
c.3877A>C (p.Lys1293Gln)
c.3823A>C (p.Lys1275Gln)
c.3223A>C (p.Lys1075Gln)
c.4171A>C (p.Lys1391Gln)
c.4168A>C (p.Lys1390Gln)
c.4087A>C (p.Lys1363Gln)
c.4018A>C (p.Lys1340Gln)
c.3886A>C (p.Lys1296Gln)
c.3754A>C (p.Lys1252Gln)
 gnomAD v4
20g.32436619A>GCA408564047ASXL1c.3907A>G (p.Lys1303Glu)
c.3724A>G (p.Lys1242Glu)
n.6260A>G
c.1870-1811A>G (n.1870-1811A>G)
c.3892A>G (p.Lys1298Glu)
c.3904A>G (p.Lys1302Glu)
c.3877A>G (p.Lys1293Glu)
c.3823A>G (p.Lys1275Glu)
c.3223A>G (p.Lys1075Glu)
c.4171A>G (p.Lys1391Glu)
c.4168A>G (p.Lys1390Glu)
c.4087A>G (p.Lys1363Glu)
c.4018A>G (p.Lys1340Glu)
c.3886A>G (p.Lys1296Glu)
c.3754A>G (p.Lys1252Glu)
20g.32436619A>TCA408564048ASXL1c.3907A>T (p.Lys1303Ter)
c.3724A>T (p.Lys1242Ter)
n.6260A>T
c.1870-1811A>T (n.1870-1811A>T)
c.3892A>T (p.Lys1298Ter)
c.3904A>T (p.Lys1302Ter)
c.3877A>T (p.Lys1293Ter)
c.3823A>T (p.Lys1275Ter)
c.3223A>T (p.Lys1075Ter)
c.4171A>T (p.Lys1391Ter)
c.4168A>T (p.Lys1390Ter)
c.4087A>T (p.Lys1363Ter)
c.4018A>T (p.Lys1340Ter)
c.3886A>T (p.Lys1296Ter)
c.3754A>T (p.Lys1252Ter)
20g.32436620A>CCA408564050ASXL1c.3908A>C (p.Lys1303Thr)
c.3725A>C (p.Lys1242Thr)
n.6261A>C
c.1870-1810A>C (n.1870-1810A>C)
c.3893A>C (p.Lys1298Thr)
c.3905A>C (p.Lys1302Thr)
c.3878A>C (p.Lys1293Thr)
c.3824A>C (p.Lys1275Thr)
c.3224A>C (p.Lys1075Thr)
c.4172A>C (p.Lys1391Thr)
c.4169A>C (p.Lys1390Thr)
c.4088A>C (p.Lys1363Thr)
c.4019A>C (p.Lys1340Thr)
c.3887A>C (p.Lys1296Thr)
c.3755A>C (p.Lys1252Thr)
20g.32436620A>GCA408564051ASXL1c.3908A>G (p.Lys1303Arg)
c.3725A>G (p.Lys1242Arg)
n.6261A>G
c.1870-1810A>G (n.1870-1810A>G)
c.3893A>G (p.Lys1298Arg)
c.3905A>G (p.Lys1302Arg)
c.3878A>G (p.Lys1293Arg)
c.3824A>G (p.Lys1275Arg)
c.3224A>G (p.Lys1075Arg)
c.4172A>G (p.Lys1391Arg)
c.4169A>G (p.Lys1390Arg)
c.4088A>G (p.Lys1363Arg)
c.4019A>G (p.Lys1340Arg)
c.3887A>G (p.Lys1296Arg)
c.3755A>G (p.Lys1252Arg)
20g.32436620A>TCA408564049ASXL1c.3908A>T (p.Lys1303Met)
c.3725A>T (p.Lys1242Met)
n.6261A>T
c.1870-1810A>T (n.1870-1810A>T)
c.3893A>T (p.Lys1298Met)
c.3905A>T (p.Lys1302Met)
c.3878A>T (p.Lys1293Met)
c.3824A>T (p.Lys1275Met)
c.3224A>T (p.Lys1075Met)
c.4172A>T (p.Lys1391Met)
c.4169A>T (p.Lys1390Met)
c.4088A>T (p.Lys1363Met)
c.4019A>T (p.Lys1340Met)
c.3887A>T (p.Lys1296Met)
c.3755A>T (p.Lys1252Met)
20g.32436621G>ACA510467486ASXL1c.3909G>A (p.Lys1303=)
c.3726G>A (p.Lys1242=)
n.6262G>A
c.1870-1809G>A (n.1870-1809G>A)
c.3894G>A (p.Lys1298=)
c.3906G>A (p.Lys1302=)
c.3879G>A (p.Lys1293=)
c.3825G>A (p.Lys1275=)
c.3225G>A (p.Lys1075=)
c.4173G>A (p.Lys1391=)
c.4170G>A (p.Lys1390=)
c.4089G>A (p.Lys1363=)
c.4020G>A (p.Lys1340=)
c.3888G>A (p.Lys1296=)
c.3756G>A (p.Lys1252=)
 dbSNP
20g.32436621G>CCA408564052ASXL1c.3909G>C (p.Lys1303Asn)
c.3726G>C (p.Lys1242Asn)
n.6262G>C
c.1870-1809G>C (n.1870-1809G>C)
c.3894G>C (p.Lys1298Asn)
c.3906G>C (p.Lys1302Asn)
c.3879G>C (p.Lys1293Asn)
c.3825G>C (p.Lys1275Asn)
c.3225G>C (p.Lys1075Asn)
c.4173G>C (p.Lys1391Asn)
c.4170G>C (p.Lys1390Asn)
c.4089G>C (p.Lys1363Asn)
c.4020G>C (p.Lys1340Asn)
c.3888G>C (p.Lys1296Asn)
c.3756G>C (p.Lys1252Asn)
20g.32436621G=CA2360293790ASXL1c.3909G= (p.Lys1303=)
c.3726G= (p.Lys1242=)
n.6262G=
c.1870-1809G= (n.1870-1809G=)
c.3894G= (p.Lys1298=)
c.3906G= (p.Lys1302=)
c.3879G= (p.Lys1293=)
c.3825G= (p.Lys1275=)
c.3225G= (p.Lys1075=)
c.4173G= (p.Lys1391=)
c.4170G= (p.Lys1390=)
c.4089G= (p.Lys1363=)
c.4020G= (p.Lys1340=)
c.3888G= (p.Lys1296=)
c.3756G= (p.Lys1252=)
20g.32436621G>TCA408564053ASXL1c.3909G>T (p.Lys1303Asn)
c.3726G>T (p.Lys1242Asn)
n.6262G>T
c.1870-1809G>T (n.1870-1809G>T)
c.3894G>T (p.Lys1298Asn)
c.3906G>T (p.Lys1302Asn)
c.3879G>T (p.Lys1293Asn)
c.3825G>T (p.Lys1275Asn)
c.3225G>T (p.Lys1075Asn)
c.4173G>T (p.Lys1391Asn)
c.4170G>T (p.Lys1390Asn)
c.4089G>T (p.Lys1363Asn)
c.4020G>T (p.Lys1340Asn)
c.3888G>T (p.Lys1296Asn)
c.3756G>T (p.Lys1252Asn)
20g.32436622delCA2652401272ASXL1c.3910del (p.Leu1304PhefsTer?)
c.3727del (p.Leu1243PhefsTer?)
n.6263del
c.1870-1808del (n.1870-1808del)
c.3895del (p.Leu1299PhefsTer?)
c.3907del (p.Leu1303PhefsTer?)
c.3880del (p.Leu1294PhefsTer?)
c.3826del (p.Leu1276PhefsTer?)
c.3226del (p.Leu1076PhefsTer?)
c.4174del (p.Leu1392PhefsTer?)
c.4171del (p.Leu1391PhefsTer?)
c.4090del (p.Leu1364PhefsTer?)
c.4021del (p.Leu1341PhefsTer?)
c.3889del (p.Leu1297PhefsTer?)
c.3757del (p.Leu1253PhefsTer?)
 gnomAD v4
20g.32436622C>ACA9808923ASXL1c.3910C>A (p.Leu1304Ile)
c.3727C>A (p.Leu1243Ile)
n.6263C>A
c.1870-1808C>A (n.1870-1808C>A)
c.3895C>A (p.Leu1299Ile)
c.3907C>A (p.Leu1303Ile)
c.3880C>A (p.Leu1294Ile)
c.3826C>A (p.Leu1276Ile)
c.3226C>A (p.Leu1076Ile)
c.4174C>A (p.Leu1392Ile)
c.4171C>A (p.Leu1391Ile)
c.4090C>A (p.Leu1364Ile)
c.4021C>A (p.Leu1341Ile)
c.3889C>A (p.Leu1297Ile)
c.3757C>A (p.Leu1253Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436622C=CA2360293791ASXL1c.3910C= (p.Leu1304=)
c.3727C= (p.Leu1243=)
n.6263C=
c.1870-1808C= (n.1870-1808C=)
c.3895C= (p.Leu1299=)
c.3907C= (p.Leu1303=)
c.3880C= (p.Leu1294=)
c.3826C= (p.Leu1276=)
c.3226C= (p.Leu1076=)
c.4174C= (p.Leu1392=)
c.4171C= (p.Leu1391=)
c.4090C= (p.Leu1364=)
c.4021C= (p.Leu1341=)
c.3889C= (p.Leu1297=)
c.3757C= (p.Leu1253=)
20g.32436622C>GCA9808922ASXL1c.3910C>G (p.Leu1304Val)
c.3727C>G (p.Leu1243Val)
n.6263C>G
c.1870-1808C>G (n.1870-1808C>G)
c.3895C>G (p.Leu1299Val)
c.3907C>G (p.Leu1303Val)
c.3880C>G (p.Leu1294Val)
c.3826C>G (p.Leu1276Val)
c.3226C>G (p.Leu1076Val)
c.4174C>G (p.Leu1392Val)
c.4171C>G (p.Leu1391Val)
c.4090C>G (p.Leu1364Val)
c.4021C>G (p.Leu1341Val)
c.3889C>G (p.Leu1297Val)
c.3757C>G (p.Leu1253Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436622C>TCA408564054ASXL1c.3910C>T (p.Leu1304Phe)
c.3727C>T (p.Leu1243Phe)
n.6263C>T
c.1870-1808C>T (n.1870-1808C>T)
c.3895C>T (p.Leu1299Phe)
c.3907C>T (p.Leu1303Phe)
c.3880C>T (p.Leu1294Phe)
c.3826C>T (p.Leu1276Phe)
c.3226C>T (p.Leu1076Phe)
c.4174C>T (p.Leu1392Phe)
c.4171C>T (p.Leu1391Phe)
c.4090C>T (p.Leu1364Phe)
c.4021C>T (p.Leu1341Phe)
c.3889C>T (p.Leu1297Phe)
c.3757C>T (p.Leu1253Phe)
20g.32436623T>ACA408564055ASXL1c.3911T>A (p.Leu1304His)
c.3728T>A (p.Leu1243His)
n.6264T>A
c.1870-1807T>A (n.1870-1807T>A)
c.3896T>A (p.Leu1299His)
c.3908T>A (p.Leu1303His)
c.3881T>A (p.Leu1294His)
c.3827T>A (p.Leu1276His)
c.3227T>A (p.Leu1076His)
c.4175T>A (p.Leu1392His)
c.4172T>A (p.Leu1391His)
c.4091T>A (p.Leu1364His)
c.4022T>A (p.Leu1341His)
c.3890T>A (p.Leu1297His)
c.3758T>A (p.Leu1253His)
 COSMIC COSMIC
20g.32436623T>CCA408564056ASXL1c.3911T>C (p.Leu1304Pro)
c.3728T>C (p.Leu1243Pro)
n.6264T>C
c.1870-1807T>C (n.1870-1807T>C)
c.3896T>C (p.Leu1299Pro)
c.3908T>C (p.Leu1303Pro)
c.3881T>C (p.Leu1294Pro)
c.3827T>C (p.Leu1276Pro)
c.3227T>C (p.Leu1076Pro)
c.4175T>C (p.Leu1392Pro)
c.4172T>C (p.Leu1391Pro)
c.4091T>C (p.Leu1364Pro)
c.4022T>C (p.Leu1341Pro)
c.3890T>C (p.Leu1297Pro)
c.3758T>C (p.Leu1253Pro)
20g.32436623T>GCA408564057ASXL1c.3911T>G (p.Leu1304Arg)
c.3728T>G (p.Leu1243Arg)
n.6264T>G
c.1870-1807T>G (n.1870-1807T>G)
c.3896T>G (p.Leu1299Arg)
c.3908T>G (p.Leu1303Arg)
c.3881T>G (p.Leu1294Arg)
c.3827T>G (p.Leu1276Arg)
c.3227T>G (p.Leu1076Arg)
c.4175T>G (p.Leu1392Arg)
c.4172T>G (p.Leu1391Arg)
c.4091T>G (p.Leu1364Arg)
c.4022T>G (p.Leu1341Arg)
c.3890T>G (p.Leu1297Arg)
c.3758T>G (p.Leu1253Arg)
20g.32436627delCA2652401274ASXL1c.3915del (p.Phe1305LeufsTer?)
c.3732del (p.Phe1244LeufsTer?)
n.6268del
c.1870-1803del (n.1870-1803del)
c.3900del (p.Phe1300LeufsTer?)
c.3912del (p.Phe1304LeufsTer?)
c.3885del (p.Phe1295LeufsTer?)
c.3831del (p.Phe1277LeufsTer?)
c.3231del (p.Phe1077LeufsTer?)
c.4179del (p.Phe1393LeufsTer?)
c.4176del (p.Phe1392LeufsTer?)
c.4095del (p.Phe1365LeufsTer?)
c.4026del (p.Phe1342LeufsTer?)
c.3894del (p.Phe1298LeufsTer?)
c.3762del (p.Phe1254LeufsTer?)
 dbSNP gnomAD v4
20g.32436626_32436627delCA2652401273ASXL1c.3914_3915del (p.Phe1305TrpfsTer23)
c.3731_3732del (p.Phe1244TrpfsTer23)
n.6267_6268del
c.1870-1804_1870-1803del (n.1870-1804_1870-1803del)
c.3899_3900del (p.Phe1300TrpfsTer23)
c.3911_3912del (p.Phe1304TrpfsTer23)
c.3884_3885del (p.Phe1295TrpfsTer23)
c.3830_3831del (p.Phe1277TrpfsTer23)
c.3230_3231del (p.Phe1077TrpfsTer23)
c.4178_4179del (p.Phe1393TrpfsTer23)
c.4175_4176del (p.Phe1392TrpfsTer23)
c.4094_4095del (p.Phe1365TrpfsTer23)
c.4025_4026del (p.Phe1342TrpfsTer23)
c.3893_3894del (p.Phe1298TrpfsTer23)
c.3761_3762del (p.Phe1254TrpfsTer23)
 gnomAD v4
20g.32436624T>ACA510467487ASXL1c.3912T>A (p.Leu1304=)
c.3729T>A (p.Leu1243=)
n.6265T>A
c.1870-1806T>A (n.1870-1806T>A)
c.3897T>A (p.Leu1299=)
c.3909T>A (p.Leu1303=)
c.3882T>A (p.Leu1294=)
c.3828T>A (p.Leu1276=)
c.3228T>A (p.Leu1076=)
c.4176T>A (p.Leu1392=)
c.4173T>A (p.Leu1391=)
c.4092T>A (p.Leu1364=)
c.4023T>A (p.Leu1341=)
c.3891T>A (p.Leu1297=)
c.3759T>A (p.Leu1253=)
20g.32436624T>CCA9808924ASXL1c.3912T>C (p.Leu1304=)
c.3729T>C (p.Leu1243=)
n.6265T>C
c.1870-1806T>C (n.1870-1806T>C)
c.3897T>C (p.Leu1299=)
c.3909T>C (p.Leu1303=)
c.3882T>C (p.Leu1294=)
c.3828T>C (p.Leu1276=)
c.3228T>C (p.Leu1076=)
c.4176T>C (p.Leu1392=)
c.4173T>C (p.Leu1391=)
c.4092T>C (p.Leu1364=)
c.4023T>C (p.Leu1341=)
c.3891T>C (p.Leu1297=)
c.3759T>C (p.Leu1253=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436624T>GCA510467488ASXL1c.3912T>G (p.Leu1304=)
c.3729T>G (p.Leu1243=)
n.6265T>G
c.1870-1806T>G (n.1870-1806T>G)
c.3897T>G (p.Leu1299=)
c.3909T>G (p.Leu1303=)
c.3882T>G (p.Leu1294=)
c.3828T>G (p.Leu1276=)
c.3228T>G (p.Leu1076=)
c.4176T>G (p.Leu1392=)
c.4173T>G (p.Leu1391=)
c.4092T>G (p.Leu1364=)
c.4023T>G (p.Leu1341=)
c.3891T>G (p.Leu1297=)
c.3759T>G (p.Leu1253=)
20g.32436624T=CA2360293792ASXL1c.3912T= (p.Leu1304=)
c.3729T= (p.Leu1243=)
n.6265T=
c.1870-1806T= (n.1870-1806T=)
c.3897T= (p.Leu1299=)
c.3909T= (p.Leu1303=)
c.3882T= (p.Leu1294=)
c.3828T= (p.Leu1276=)
c.3228T= (p.Leu1076=)
c.4176T= (p.Leu1392=)
c.4173T= (p.Leu1391=)
c.4092T= (p.Leu1364=)
c.4023T= (p.Leu1341=)
c.3891T= (p.Leu1297=)
c.3759T= (p.Leu1253=)
20g.32436625T>ACA408564058ASXL1c.3913T>A (p.Phe1305Ile)
c.3730T>A (p.Phe1244Ile)
n.6266T>A
c.1870-1805T>A (n.1870-1805T>A)
c.3898T>A (p.Phe1300Ile)
c.3910T>A (p.Phe1304Ile)
c.3883T>A (p.Phe1295Ile)
c.3829T>A (p.Phe1277Ile)
c.3229T>A (p.Phe1077Ile)
c.4177T>A (p.Phe1393Ile)
c.4174T>A (p.Phe1392Ile)
c.4093T>A (p.Phe1365Ile)
c.4024T>A (p.Phe1342Ile)
c.3892T>A (p.Phe1298Ile)
c.3760T>A (p.Phe1254Ile)
20g.32436625T>CCA408564059ASXL1c.3913T>C (p.Phe1305Leu)
c.3730T>C (p.Phe1244Leu)
n.6266T>C
c.1870-1805T>C (n.1870-1805T>C)
c.3898T>C (p.Phe1300Leu)
c.3910T>C (p.Phe1304Leu)
c.3883T>C (p.Phe1295Leu)
c.3829T>C (p.Phe1277Leu)
c.3229T>C (p.Phe1077Leu)
c.4177T>C (p.Phe1393Leu)
c.4174T>C (p.Phe1392Leu)
c.4093T>C (p.Phe1365Leu)
c.4024T>C (p.Phe1342Leu)
c.3892T>C (p.Phe1298Leu)
c.3760T>C (p.Phe1254Leu)
 dbSNP gnomAD v4
20g.32436625T>GCA408564060ASXL1c.3913T>G (p.Phe1305Val)
c.3730T>G (p.Phe1244Val)
n.6266T>G
c.1870-1805T>G (n.1870-1805T>G)
c.3898T>G (p.Phe1300Val)
c.3910T>G (p.Phe1304Val)
c.3883T>G (p.Phe1295Val)
c.3829T>G (p.Phe1277Val)
c.3229T>G (p.Phe1077Val)
c.4177T>G (p.Phe1393Val)
c.4174T>G (p.Phe1392Val)
c.4093T>G (p.Phe1365Val)
c.4024T>G (p.Phe1342Val)
c.3892T>G (p.Phe1298Val)
c.3760T>G (p.Phe1254Val)
20g.32436625T=CA2360293793ASXL1c.3913T= (p.Phe1305=)
c.3730T= (p.Phe1244=)
n.6266T=
c.1870-1805T= (n.1870-1805T=)
c.3898T= (p.Phe1300=)
c.3910T= (p.Phe1304=)
c.3883T= (p.Phe1295=)
c.3829T= (p.Phe1277=)
c.3229T= (p.Phe1077=)
c.4177T= (p.Phe1393=)
c.4174T= (p.Phe1392=)
c.4093T= (p.Phe1365=)
c.4024T= (p.Phe1342=)
c.3892T= (p.Phe1298=)
c.3760T= (p.Phe1254=)
20g.32436626T>ACA10652454ASXL1c.3914T>A (p.Phe1305Tyr)
c.3731T>A (p.Phe1244Tyr)
n.6267T>A
c.1870-1804T>A (n.1870-1804T>A)
c.3899T>A (p.Phe1300Tyr)
c.3911T>A (p.Phe1304Tyr)
c.3884T>A (p.Phe1295Tyr)
c.3830T>A (p.Phe1277Tyr)
c.3230T>A (p.Phe1077Tyr)
c.4178T>A (p.Phe1393Tyr)
c.4175T>A (p.Phe1392Tyr)
c.4094T>A (p.Phe1365Tyr)
c.4025T>A (p.Phe1342Tyr)
c.3893T>A (p.Phe1298Tyr)
c.3761T>A (p.Phe1254Tyr)
 dbSNP
20g.32436626T>CCA9808925ASXL1c.3914T>C (p.Phe1305Ser)
c.3731T>C (p.Phe1244Ser)
n.6267T>C
c.1870-1804T>C (n.1870-1804T>C)
c.3899T>C (p.Phe1300Ser)
c.3911T>C (p.Phe1304Ser)
c.3884T>C (p.Phe1295Ser)
c.3830T>C (p.Phe1277Ser)
c.3230T>C (p.Phe1077Ser)
c.4178T>C (p.Phe1393Ser)
c.4175T>C (p.Phe1392Ser)
c.4094T>C (p.Phe1365Ser)
c.4025T>C (p.Phe1342Ser)
c.3893T>C (p.Phe1298Ser)
c.3761T>C (p.Phe1254Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436626T>GCA408564061ASXL1c.3914T>G (p.Phe1305Cys)
c.3731T>G (p.Phe1244Cys)
n.6267T>G
c.1870-1804T>G (n.1870-1804T>G)
c.3899T>G (p.Phe1300Cys)
c.3911T>G (p.Phe1304Cys)
c.3884T>G (p.Phe1295Cys)
c.3830T>G (p.Phe1277Cys)
c.3230T>G (p.Phe1077Cys)
c.4178T>G (p.Phe1393Cys)
c.4175T>G (p.Phe1392Cys)
c.4094T>G (p.Phe1365Cys)
c.4025T>G (p.Phe1342Cys)
c.3893T>G (p.Phe1298Cys)
c.3761T>G (p.Phe1254Cys)
 ClinVar
20g.32436626T=CA2360293794ASXL1c.3914T= (p.Phe1305=)
c.3731T= (p.Phe1244=)
n.6267T=
c.1870-1804T= (n.1870-1804T=)
c.3899T= (p.Phe1300=)
c.3911T= (p.Phe1304=)
c.3884T= (p.Phe1295=)
c.3830T= (p.Phe1277=)
c.3230T= (p.Phe1077=)
c.4178T= (p.Phe1393=)
c.4175T= (p.Phe1392=)
c.4094T= (p.Phe1365=)
c.4025T= (p.Phe1342=)
c.3893T= (p.Phe1298=)
c.3761T= (p.Phe1254=)
20g.32436627T>ACA408564062ASXL1c.3915T>A (p.Phe1305Leu)
c.3732T>A (p.Phe1244Leu)
n.6268T>A
c.1870-1803T>A (n.1870-1803T>A)
c.3900T>A (p.Phe1300Leu)
c.3912T>A (p.Phe1304Leu)
c.3885T>A (p.Phe1295Leu)
c.3831T>A (p.Phe1277Leu)
c.3231T>A (p.Phe1077Leu)
c.4179T>A (p.Phe1393Leu)
c.4176T>A (p.Phe1392Leu)
c.4095T>A (p.Phe1365Leu)
c.4026T>A (p.Phe1342Leu)
c.3894T>A (p.Phe1298Leu)
c.3762T>A (p.Phe1254Leu)
20g.32436627T>CCA510467489ASXL1c.3915T>C (p.Phe1305=)
c.3732T>C (p.Phe1244=)
n.6268T>C
c.1870-1803T>C (n.1870-1803T>C)
c.3900T>C (p.Phe1300=)
c.3912T>C (p.Phe1304=)
c.3885T>C (p.Phe1295=)
c.3831T>C (p.Phe1277=)
c.3231T>C (p.Phe1077=)
c.4179T>C (p.Phe1393=)
c.4176T>C (p.Phe1392=)
c.4095T>C (p.Phe1365=)
c.4026T>C (p.Phe1342=)
c.3894T>C (p.Phe1298=)
c.3762T>C (p.Phe1254=)
20g.32436627T>GCA408564063ASXL1c.3915T>G (p.Phe1305Leu)
c.3732T>G (p.Phe1244Leu)
n.6268T>G
c.1870-1803T>G (n.1870-1803T>G)
c.3900T>G (p.Phe1300Leu)
c.3912T>G (p.Phe1304Leu)
c.3885T>G (p.Phe1295Leu)
c.3831T>G (p.Phe1277Leu)
c.3231T>G (p.Phe1077Leu)
c.4179T>G (p.Phe1393Leu)
c.4176T>G (p.Phe1392Leu)
c.4095T>G (p.Phe1365Leu)
c.4026T>G (p.Phe1342Leu)
c.3894T>G (p.Phe1298Leu)
c.3762T>G (p.Phe1254Leu)
 ClinVar dbSNP
20g.32436628G>ACA408564064ASXL1c.3916G>A (p.Gly1306Ser)
c.3733G>A (p.Gly1245Ser)
n.6269G>A
c.1870-1802G>A (n.1870-1802G>A)
c.3901G>A (p.Gly1301Ser)
c.3913G>A (p.Gly1305Ser)
c.3886G>A (p.Gly1296Ser)
c.3832G>A (p.Gly1278Ser)
c.3232G>A (p.Gly1078Ser)
c.4180G>A (p.Gly1394Ser)
c.4177G>A (p.Gly1393Ser)
c.4096G>A (p.Gly1366Ser)
c.4027G>A (p.Gly1343Ser)
c.3895G>A (p.Gly1299Ser)
c.3763G>A (p.Gly1255Ser)
20g.32436628G>CCA408564065ASXL1c.3916G>C (p.Gly1306Arg)
c.3733G>C (p.Gly1245Arg)
n.6269G>C
c.1870-1802G>C (n.1870-1802G>C)
c.3901G>C (p.Gly1301Arg)
c.3913G>C (p.Gly1305Arg)
c.3886G>C (p.Gly1296Arg)
c.3832G>C (p.Gly1278Arg)
c.3232G>C (p.Gly1078Arg)
c.4180G>C (p.Gly1394Arg)
c.4177G>C (p.Gly1393Arg)
c.4096G>C (p.Gly1366Arg)
c.4027G>C (p.Gly1343Arg)
c.3895G>C (p.Gly1299Arg)
c.3763G>C (p.Gly1255Arg)
20g.32436628G>TCA408564066ASXL1c.3916G>T (p.Gly1306Cys)
c.3733G>T (p.Gly1245Cys)
n.6269G>T
c.1870-1802G>T (n.1870-1802G>T)
c.3901G>T (p.Gly1301Cys)
c.3913G>T (p.Gly1305Cys)
c.3886G>T (p.Gly1296Cys)
c.3832G>T (p.Gly1278Cys)
c.3232G>T (p.Gly1078Cys)
c.4180G>T (p.Gly1394Cys)
c.4177G>T (p.Gly1393Cys)
c.4096G>T (p.Gly1366Cys)
c.4027G>T (p.Gly1343Cys)
c.3895G>T (p.Gly1299Cys)
c.3763G>T (p.Gly1255Cys)
20g.32436629G>ACA9808926ASXL1c.3917G>A (p.Gly1306Asp)
c.3734G>A (p.Gly1245Asp)
n.6270G>A
c.1870-1801G>A (n.1870-1801G>A)
c.3902G>A (p.Gly1301Asp)
c.3914G>A (p.Gly1305Asp)
c.3887G>A (p.Gly1296Asp)
c.3833G>A (p.Gly1278Asp)
c.3233G>A (p.Gly1078Asp)
c.4181G>A (p.Gly1394Asp)
c.4178G>A (p.Gly1393Asp)
c.4097G>A (p.Gly1366Asp)
c.4028G>A (p.Gly1343Asp)
c.3896G>A (p.Gly1299Asp)
c.3764G>A (p.Gly1255Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436629G>CCA408564067ASXL1c.3917G>C (p.Gly1306Ala)
c.3734G>C (p.Gly1245Ala)
n.6270G>C
c.1870-1801G>C (n.1870-1801G>C)
c.3902G>C (p.Gly1301Ala)
c.3914G>C (p.Gly1305Ala)
c.3887G>C (p.Gly1296Ala)
c.3833G>C (p.Gly1278Ala)
c.3233G>C (p.Gly1078Ala)
c.4181G>C (p.Gly1394Ala)
c.4178G>C (p.Gly1393Ala)
c.4097G>C (p.Gly1366Ala)
c.4028G>C (p.Gly1343Ala)
c.3896G>C (p.Gly1299Ala)
c.3764G>C (p.Gly1255Ala)
20g.32436629G=CA2360293795ASXL1c.3917G= (p.Gly1306=)
c.3734G= (p.Gly1245=)
n.6270G=
c.1870-1801G= (n.1870-1801G=)
c.3902G= (p.Gly1301=)
c.3914G= (p.Gly1305=)
c.3887G= (p.Gly1296=)
c.3833G= (p.Gly1278=)
c.3233G= (p.Gly1078=)
c.4181G= (p.Gly1394=)
c.4178G= (p.Gly1393=)
c.4097G= (p.Gly1366=)
c.4028G= (p.Gly1343=)
c.3896G= (p.Gly1299=)
c.3764G= (p.Gly1255=)
20g.32436629G>TCA313926367ASXL1c.3917G>T (p.Gly1306Val)
c.3734G>T (p.Gly1245Val)
n.6270G>T
c.1870-1801G>T (n.1870-1801G>T)
c.3902G>T (p.Gly1301Val)
c.3914G>T (p.Gly1305Val)
c.3887G>T (p.Gly1296Val)
c.3833G>T (p.Gly1278Val)
c.3233G>T (p.Gly1078Val)
c.4181G>T (p.Gly1394Val)
c.4178G>T (p.Gly1393Val)
c.4097G>T (p.Gly1366Val)
c.4028G>T (p.Gly1343Val)
c.3896G>T (p.Gly1299Val)
c.3764G>T (p.Gly1255Val)
 dbSNP gnomAD v3 gnomAD v4
20g.32436630C>ACA510467490ASXL1c.3918C>A (p.Gly1306=)
c.3735C>A (p.Gly1245=)
n.6271C>A
c.1870-1800C>A (n.1870-1800C>A)
c.3903C>A (p.Gly1301=)
c.3915C>A (p.Gly1305=)
c.3888C>A (p.Gly1296=)
c.3834C>A (p.Gly1278=)
c.3234C>A (p.Gly1078=)
c.4182C>A (p.Gly1394=)
c.4179C>A (p.Gly1393=)
c.4098C>A (p.Gly1366=)
c.4029C>A (p.Gly1343=)
c.3897C>A (p.Gly1299=)
c.3765C>A (p.Gly1255=)
20g.32436630C=CA2360293796ASXL1c.3918C= (p.Gly1306=)
c.3735C= (p.Gly1245=)
n.6271C=
c.1870-1800C= (n.1870-1800C=)
c.3903C= (p.Gly1301=)
c.3915C= (p.Gly1305=)
c.3888C= (p.Gly1296=)
c.3834C= (p.Gly1278=)
c.3234C= (p.Gly1078=)
c.4182C= (p.Gly1394=)
c.4179C= (p.Gly1393=)
c.4098C= (p.Gly1366=)
c.4029C= (p.Gly1343=)
c.3897C= (p.Gly1299=)
c.3765C= (p.Gly1255=)
20g.32436630C>GCA510467492ASXL1c.3918C>G (p.Gly1306=)
c.3735C>G (p.Gly1245=)
n.6271C>G
c.1870-1800C>G (n.1870-1800C>G)
c.3903C>G (p.Gly1301=)
c.3915C>G (p.Gly1305=)
c.3888C>G (p.Gly1296=)
c.3834C>G (p.Gly1278=)
c.3234C>G (p.Gly1078=)
c.4182C>G (p.Gly1394=)
c.4179C>G (p.Gly1393=)
c.4098C>G (p.Gly1366=)
c.4029C>G (p.Gly1343=)
c.3897C>G (p.Gly1299=)
c.3765C>G (p.Gly1255=)
20g.32436630C>TCA510467491ASXL1c.3918C>T (p.Gly1306=)
c.3735C>T (p.Gly1245=)
n.6271C>T
c.1870-1800C>T (n.1870-1800C>T)
c.3903C>T (p.Gly1301=)
c.3915C>T (p.Gly1305=)
c.3888C>T (p.Gly1296=)
c.3834C>T (p.Gly1278=)
c.3234C>T (p.Gly1078=)
c.4182C>T (p.Gly1394=)
c.4179C>T (p.Gly1393=)
c.4098C>T (p.Gly1366=)
c.4029C>T (p.Gly1343=)
c.3897C>T (p.Gly1299=)
c.3765C>T (p.Gly1255=)
 dbSNP gnomAD v4
20g.32436631T>ACA408564068ASXL1c.3919T>A (p.Ser1307Thr)
c.3736T>A (p.Ser1246Thr)
n.6272T>A
c.1870-1799T>A (n.1870-1799T>A)
c.3904T>A (p.Ser1302Thr)
c.3916T>A (p.Ser1306Thr)
c.3889T>A (p.Ser1297Thr)
c.3835T>A (p.Ser1279Thr)
c.3235T>A (p.Ser1079Thr)
c.4183T>A (p.Ser1395Thr)
c.4180T>A (p.Ser1394Thr)
c.4099T>A (p.Ser1367Thr)
c.4030T>A (p.Ser1344Thr)
c.3898T>A (p.Ser1300Thr)
c.3766T>A (p.Ser1256Thr)
20g.32436631T>CCA408564069ASXL1c.3919T>C (p.Ser1307Pro)
c.3736T>C (p.Ser1246Pro)
n.6272T>C
c.1870-1799T>C (n.1870-1799T>C)
c.3904T>C (p.Ser1302Pro)
c.3916T>C (p.Ser1306Pro)
c.3889T>C (p.Ser1297Pro)
c.3835T>C (p.Ser1279Pro)
c.3235T>C (p.Ser1079Pro)
c.4183T>C (p.Ser1395Pro)
c.4180T>C (p.Ser1394Pro)
c.4099T>C (p.Ser1367Pro)
c.4030T>C (p.Ser1344Pro)
c.3898T>C (p.Ser1300Pro)
c.3766T>C (p.Ser1256Pro)
 gnomAD v4
20g.32436631T>GCA408564070ASXL1c.3919T>G (p.Ser1307Ala)
c.3736T>G (p.Ser1246Ala)
n.6272T>G
c.1870-1799T>G (n.1870-1799T>G)
c.3904T>G (p.Ser1302Ala)
c.3916T>G (p.Ser1306Ala)
c.3889T>G (p.Ser1297Ala)
c.3835T>G (p.Ser1279Ala)
c.3235T>G (p.Ser1079Ala)
c.4183T>G (p.Ser1395Ala)
c.4180T>G (p.Ser1394Ala)
c.4099T>G (p.Ser1367Ala)
c.4030T>G (p.Ser1344Ala)
c.3898T>G (p.Ser1300Ala)
c.3766T>G (p.Ser1256Ala)

Number of alleles fetched