Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436455_32436458delCA2538161313ASXL1c.3743_3746del (p.Ala1248GlyfsTer?)
c.3560_3563del (p.Ala1187GlyfsTer?)
n.6096_6099del
c.1869+1874_1869+1877del (n.1869+1874_1869+1877del)
c.3728_3731del (p.Ala1243GlyfsTer?)
c.3740_3743del (p.Ala1247GlyfsTer?)
c.3713_3716del (p.Ala1238GlyfsTer?)
c.3659_3662del (p.Ala1220GlyfsTer?)
c.3059_3062del (p.Ala1020GlyfsTer?)
c.4007_4010del (p.Ala1336GlyfsTer?)
c.4004_4007del (p.Ala1335GlyfsTer?)
c.3923_3926del (p.Ala1308GlyfsTer?)
c.3854_3857del (p.Ala1285GlyfsTer?)
c.3722_3725del (p.Ala1241GlyfsTer?)
c.3590_3593del (p.Ala1197GlyfsTer?)
20g.32436456T>ACA510467625ASXL1c.3744T>A (p.Ala1248=)
c.3561T>A (p.Ala1187=)
n.6097T>A
c.1869+1875T>A (n.1869+1875T>A)
c.3729T>A (p.Ala1243=)
c.3741T>A (p.Ala1247=)
c.3714T>A (p.Ala1238=)
c.3660T>A (p.Ala1220=)
c.3060T>A (p.Ala1020=)
c.4008T>A (p.Ala1336=)
c.4005T>A (p.Ala1335=)
c.3924T>A (p.Ala1308=)
c.3855T>A (p.Ala1285=)
c.3723T>A (p.Ala1241=)
c.3591T>A (p.Ala1197=)
20g.32436456T>CCA313926358ASXL1c.3744T>C (p.Ala1248=)
c.3561T>C (p.Ala1187=)
n.6097T>C
c.1869+1875T>C (n.1869+1875T>C)
c.3729T>C (p.Ala1243=)
c.3741T>C (p.Ala1247=)
c.3714T>C (p.Ala1238=)
c.3660T>C (p.Ala1220=)
c.3060T>C (p.Ala1020=)
c.4008T>C (p.Ala1336=)
c.4005T>C (p.Ala1335=)
c.3924T>C (p.Ala1308=)
c.3855T>C (p.Ala1285=)
c.3723T>C (p.Ala1241=)
c.3591T>C (p.Ala1197=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436456T>GCA510467627ASXL1c.3744T>G (p.Ala1248=)
c.3561T>G (p.Ala1187=)
n.6097T>G
c.1869+1875T>G (n.1869+1875T>G)
c.3729T>G (p.Ala1243=)
c.3741T>G (p.Ala1247=)
c.3714T>G (p.Ala1238=)
c.3660T>G (p.Ala1220=)
c.3060T>G (p.Ala1020=)
c.4008T>G (p.Ala1336=)
c.4005T>G (p.Ala1335=)
c.3924T>G (p.Ala1308=)
c.3855T>G (p.Ala1285=)
c.3723T>G (p.Ala1241=)
c.3591T>G (p.Ala1197=)
20g.32436456T=CA2360293709ASXL1c.3744T= (p.Ala1248=)
c.3561T= (p.Ala1187=)
n.6097T=
c.1869+1875T= (n.1869+1875T=)
c.3729T= (p.Ala1243=)
c.3741T= (p.Ala1247=)
c.3714T= (p.Ala1238=)
c.3660T= (p.Ala1220=)
c.3060T= (p.Ala1020=)
c.4008T= (p.Ala1336=)
c.4005T= (p.Ala1335=)
c.3924T= (p.Ala1308=)
c.3855T= (p.Ala1285=)
c.3723T= (p.Ala1241=)
c.3591T= (p.Ala1197=)
20g.32436457A=CA2360293710ASXL1c.3745A= (p.Met1249=)
c.3562A= (p.Met1188=)
n.6098A=
c.1869+1876A= (n.1869+1876A=)
c.3730A= (p.Met1244=)
c.3742A= (p.Met1248=)
c.3715A= (p.Met1239=)
c.3661A= (p.Met1221=)
c.3061A= (p.Met1021=)
c.4009A= (p.Met1337=)
c.4006A= (p.Met1336=)
c.3925A= (p.Met1309=)
c.3856A= (p.Met1286=)
c.3724A= (p.Met1242=)
c.3592A= (p.Met1198=)
20g.32436457A>CCA408563713ASXL1c.3745A>C (p.Met1249Leu)
c.3562A>C (p.Met1188Leu)
n.6098A>C
c.1869+1876A>C (n.1869+1876A>C)
c.3730A>C (p.Met1244Leu)
c.3742A>C (p.Met1248Leu)
c.3715A>C (p.Met1239Leu)
c.3661A>C (p.Met1221Leu)
c.3061A>C (p.Met1021Leu)
c.4009A>C (p.Met1337Leu)
c.4006A>C (p.Met1336Leu)
c.3925A>C (p.Met1309Leu)
c.3856A>C (p.Met1286Leu)
c.3724A>C (p.Met1242Leu)
c.3592A>C (p.Met1198Leu)
 ClinVar
20g.32436457A>GCA156993ASXL1c.3745A>G (p.Met1249Val)
c.3562A>G (p.Met1188Val)
n.6098A>G
c.1869+1876A>G (n.1869+1876A>G)
c.3730A>G (p.Met1244Val)
c.3742A>G (p.Met1248Val)
c.3715A>G (p.Met1239Val)
c.3661A>G (p.Met1221Val)
c.3061A>G (p.Met1021Val)
c.4009A>G (p.Met1337Val)
c.4006A>G (p.Met1336Val)
c.3925A>G (p.Met1309Val)
c.3856A>G (p.Met1286Val)
c.3724A>G (p.Met1242Val)
c.3592A>G (p.Met1198Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436457A>TCA408563714ASXL1c.3745A>T (p.Met1249Leu)
c.3562A>T (p.Met1188Leu)
n.6098A>T
c.1869+1876A>T (n.1869+1876A>T)
c.3730A>T (p.Met1244Leu)
c.3742A>T (p.Met1248Leu)
c.3715A>T (p.Met1239Leu)
c.3661A>T (p.Met1221Leu)
c.3061A>T (p.Met1021Leu)
c.4009A>T (p.Met1337Leu)
c.4006A>T (p.Met1336Leu)
c.3925A>T (p.Met1309Leu)
c.3856A>T (p.Met1286Leu)
c.3724A>T (p.Met1242Leu)
c.3592A>T (p.Met1198Leu)
 gnomAD v4
20g.32436457_32436471delinsGTGTCACAGGACAGCCA2580612057ASXL1c.3745_3759delinsGTGTCACAGGACAGC (p.Met1249Val)
c.3562_3576delinsGTGTCACAGGACAGC (p.Met1188Val)
n.6098_6112delinsGTGTCACAGGACAGC
c.1869+1876_1869+1890delinsGTGTCACAGGACAGC (n.1869+1876_1869+1890delinsGTGTCACAGGACAGC)
c.3730_3744delinsGTGTCACAGGACAGC (p.Met1244Val)
c.3742_3756delinsGTGTCACAGGACAGC (p.Met1248Val)
c.3715_3729delinsGTGTCACAGGACAGC (p.Met1239Val)
c.3661_3675delinsGTGTCACAGGACAGC (p.Met1221Val)
c.3061_3075delinsGTGTCACAGGACAGC (p.Met1021Val)
c.4009_4023delinsGTGTCACAGGACAGC (p.Met1337Val)
c.4006_4020delinsGTGTCACAGGACAGC (p.Met1336Val)
c.3925_3939delinsGTGTCACAGGACAGC (p.Met1309Val)
c.3856_3870delinsGTGTCACAGGACAGC (p.Met1286Val)
c.3724_3738delinsGTGTCACAGGACAGC (p.Met1242Val)
c.3592_3606delinsGTGTCACAGGACAGC (p.Met1198Val)
20g.32436458T>ACA408563715ASXL1c.3746T>A (p.Met1249Lys)
c.3563T>A (p.Met1188Lys)
n.6099T>A
c.1869+1877T>A (n.1869+1877T>A)
c.3731T>A (p.Met1244Lys)
c.3743T>A (p.Met1248Lys)
c.3716T>A (p.Met1239Lys)
c.3662T>A (p.Met1221Lys)
c.3062T>A (p.Met1021Lys)
c.4010T>A (p.Met1337Lys)
c.4007T>A (p.Met1336Lys)
c.3926T>A (p.Met1309Lys)
c.3857T>A (p.Met1286Lys)
c.3725T>A (p.Met1242Lys)
c.3593T>A (p.Met1198Lys)
20g.32436458T>CCA9808890ASXL1c.3746T>C (p.Met1249Thr)
c.3563T>C (p.Met1188Thr)
n.6099T>C
c.1869+1877T>C (n.1869+1877T>C)
c.3731T>C (p.Met1244Thr)
c.3743T>C (p.Met1248Thr)
c.3716T>C (p.Met1239Thr)
c.3662T>C (p.Met1221Thr)
c.3062T>C (p.Met1021Thr)
c.4010T>C (p.Met1337Thr)
c.4007T>C (p.Met1336Thr)
c.3926T>C (p.Met1309Thr)
c.3857T>C (p.Met1286Thr)
c.3725T>C (p.Met1242Thr)
c.3593T>C (p.Met1198Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436458T>GCA408563716ASXL1c.3746T>G (p.Met1249Arg)
c.3563T>G (p.Met1188Arg)
n.6099T>G
c.1869+1877T>G (n.1869+1877T>G)
c.3731T>G (p.Met1244Arg)
c.3743T>G (p.Met1248Arg)
c.3716T>G (p.Met1239Arg)
c.3662T>G (p.Met1221Arg)
c.3062T>G (p.Met1021Arg)
c.4010T>G (p.Met1337Arg)
c.4007T>G (p.Met1336Arg)
c.3926T>G (p.Met1309Arg)
c.3857T>G (p.Met1286Arg)
c.3725T>G (p.Met1242Arg)
c.3593T>G (p.Met1198Arg)
20g.32436458T=CA2360293711ASXL1c.3746T= (p.Met1249=)
c.3563T= (p.Met1188=)
n.6099T=
c.1869+1877T= (n.1869+1877T=)
c.3731T= (p.Met1244=)
c.3743T= (p.Met1248=)
c.3716T= (p.Met1239=)
c.3662T= (p.Met1221=)
c.3062T= (p.Met1021=)
c.4010T= (p.Met1337=)
c.4007T= (p.Met1336=)
c.3926T= (p.Met1309=)
c.3857T= (p.Met1286=)
c.3725T= (p.Met1242=)
c.3593T= (p.Met1198=)
20g.32436459_32436460delCA2740097058ASXL1c.3747_3748del (p.Met1249IlefsTer5)
c.3564_3565del (p.Met1188IlefsTer5)
n.6100_6101del
c.1869+1878_1869+1879del (n.1869+1878_1869+1879del)
c.3732_3733del (p.Met1244IlefsTer5)
c.3744_3745del (p.Met1248IlefsTer5)
c.3717_3718del (p.Met1239IlefsTer5)
c.3663_3664del (p.Met1221IlefsTer5)
c.3063_3064del (p.Met1021IlefsTer5)
c.4011_4012del (p.Met1337IlefsTer5)
c.4008_4009del (p.Met1336IlefsTer5)
c.3927_3928del (p.Met1309IlefsTer5)
c.3858_3859del (p.Met1286IlefsTer5)
c.3726_3727del (p.Met1242IlefsTer5)
c.3594_3595del (p.Met1198IlefsTer5)
 ClinVar
20g.32436459G>ACA408563717ASXL1c.3747G>A (p.Met1249Ile)
c.3564G>A (p.Met1188Ile)
n.6100G>A
c.1869+1878G>A (n.1869+1878G>A)
c.3732G>A (p.Met1244Ile)
c.3744G>A (p.Met1248Ile)
c.3717G>A (p.Met1239Ile)
c.3663G>A (p.Met1221Ile)
c.3063G>A (p.Met1021Ile)
c.4011G>A (p.Met1337Ile)
c.4008G>A (p.Met1336Ile)
c.3927G>A (p.Met1309Ile)
c.3858G>A (p.Met1286Ile)
c.3726G>A (p.Met1242Ile)
c.3594G>A (p.Met1198Ile)
 dbSNP
20g.32436459G>CCA408563718ASXL1c.3747G>C (p.Met1249Ile)
c.3564G>C (p.Met1188Ile)
n.6100G>C
c.1869+1878G>C (n.1869+1878G>C)
c.3732G>C (p.Met1244Ile)
c.3744G>C (p.Met1248Ile)
c.3717G>C (p.Met1239Ile)
c.3663G>C (p.Met1221Ile)
c.3063G>C (p.Met1021Ile)
c.4011G>C (p.Met1337Ile)
c.4008G>C (p.Met1336Ile)
c.3927G>C (p.Met1309Ile)
c.3858G>C (p.Met1286Ile)
c.3726G>C (p.Met1242Ile)
c.3594G>C (p.Met1198Ile)
 dbSNP
20g.32436459G>TCA408563719ASXL1c.3747G>T (p.Met1249Ile)
c.3564G>T (p.Met1188Ile)
n.6100G>T
c.1869+1878G>T (n.1869+1878G>T)
c.3732G>T (p.Met1244Ile)
c.3744G>T (p.Met1248Ile)
c.3717G>T (p.Met1239Ile)
c.3663G>T (p.Met1221Ile)
c.3063G>T (p.Met1021Ile)
c.4011G>T (p.Met1337Ile)
c.4008G>T (p.Met1336Ile)
c.3927G>T (p.Met1309Ile)
c.3858G>T (p.Met1286Ile)
c.3726G>T (p.Met1242Ile)
c.3594G>T (p.Met1198Ile)
20g.32436460T>ACA408563721ASXL1c.3748T>A (p.Ser1250Thr)
c.3565T>A (p.Ser1189Thr)
n.6101T>A
c.1869+1879T>A (n.1869+1879T>A)
c.3733T>A (p.Ser1245Thr)
c.3745T>A (p.Ser1249Thr)
c.3718T>A (p.Ser1240Thr)
c.3664T>A (p.Ser1222Thr)
c.3064T>A (p.Ser1022Thr)
c.4012T>A (p.Ser1338Thr)
c.4009T>A (p.Ser1337Thr)
c.3928T>A (p.Ser1310Thr)
c.3859T>A (p.Ser1287Thr)
c.3727T>A (p.Ser1243Thr)
c.3595T>A (p.Ser1199Thr)
20g.32436460T>CCA313926359ASXL1c.3748T>C (p.Ser1250Pro)
c.3565T>C (p.Ser1189Pro)
n.6101T>C
c.1869+1879T>C (n.1869+1879T>C)
c.3733T>C (p.Ser1245Pro)
c.3745T>C (p.Ser1249Pro)
c.3718T>C (p.Ser1240Pro)
c.3664T>C (p.Ser1222Pro)
c.3064T>C (p.Ser1022Pro)
c.4012T>C (p.Ser1338Pro)
c.4009T>C (p.Ser1337Pro)
c.3928T>C (p.Ser1310Pro)
c.3859T>C (p.Ser1287Pro)
c.3727T>C (p.Ser1243Pro)
c.3595T>C (p.Ser1199Pro)
 ClinVar dbSNP gnomAD v4 COSMIC
20g.32436460T>GCA408563720ASXL1c.3748T>G (p.Ser1250Ala)
c.3565T>G (p.Ser1189Ala)
n.6101T>G
c.1869+1879T>G (n.1869+1879T>G)
c.3733T>G (p.Ser1245Ala)
c.3745T>G (p.Ser1249Ala)
c.3718T>G (p.Ser1240Ala)
c.3664T>G (p.Ser1222Ala)
c.3064T>G (p.Ser1022Ala)
c.4012T>G (p.Ser1338Ala)
c.4009T>G (p.Ser1337Ala)
c.3928T>G (p.Ser1310Ala)
c.3859T>G (p.Ser1287Ala)
c.3727T>G (p.Ser1243Ala)
c.3595T>G (p.Ser1199Ala)
20g.32436460T=CA2360293712ASXL1c.3748T= (p.Ser1250=)
c.3565T= (p.Ser1189=)
n.6101T=
c.1869+1879T= (n.1869+1879T=)
c.3733T= (p.Ser1245=)
c.3745T= (p.Ser1249=)
c.3718T= (p.Ser1240=)
c.3664T= (p.Ser1222=)
c.3064T= (p.Ser1022=)
c.4012T= (p.Ser1338=)
c.4009T= (p.Ser1337=)
c.3928T= (p.Ser1310=)
c.3859T= (p.Ser1287=)
c.3727T= (p.Ser1243=)
c.3595T= (p.Ser1199=)
20g.32436461C>ACA408563722ASXL1c.3749C>A (p.Ser1250Ter)
c.3566C>A (p.Ser1189Ter)
n.6102C>A
c.1869+1880C>A (n.1869+1880C>A)
c.3734C>A (p.Ser1245Ter)
c.3746C>A (p.Ser1249Ter)
c.3719C>A (p.Ser1240Ter)
c.3665C>A (p.Ser1222Ter)
c.3065C>A (p.Ser1022Ter)
c.4013C>A (p.Ser1338Ter)
c.4010C>A (p.Ser1337Ter)
c.3929C>A (p.Ser1310Ter)
c.3860C>A (p.Ser1287Ter)
c.3728C>A (p.Ser1243Ter)
c.3596C>A (p.Ser1199Ter)
20g.32436461C>GCA408563723ASXL1c.3749C>G (p.Ser1250Ter)
c.3566C>G (p.Ser1189Ter)
n.6102C>G
c.1869+1880C>G (n.1869+1880C>G)
c.3734C>G (p.Ser1245Ter)
c.3746C>G (p.Ser1249Ter)
c.3719C>G (p.Ser1240Ter)
c.3665C>G (p.Ser1222Ter)
c.3065C>G (p.Ser1022Ter)
c.4013C>G (p.Ser1338Ter)
c.4010C>G (p.Ser1337Ter)
c.3929C>G (p.Ser1310Ter)
c.3860C>G (p.Ser1287Ter)
c.3728C>G (p.Ser1243Ter)
c.3596C>G (p.Ser1199Ter)
20g.32436461C>TCA408563724ASXL1c.3749C>T (p.Ser1250Leu)
c.3566C>T (p.Ser1189Leu)
n.6102C>T
c.1869+1880C>T (n.1869+1880C>T)
c.3734C>T (p.Ser1245Leu)
c.3746C>T (p.Ser1249Leu)
c.3719C>T (p.Ser1240Leu)
c.3665C>T (p.Ser1222Leu)
c.3065C>T (p.Ser1022Leu)
c.4013C>T (p.Ser1338Leu)
c.4010C>T (p.Ser1337Leu)
c.3929C>T (p.Ser1310Leu)
c.3860C>T (p.Ser1287Leu)
c.3728C>T (p.Ser1243Leu)
c.3596C>T (p.Ser1199Leu)
20g.32436461_32436466delinsCACAGGCA2360293713ASXL1c.3749_3754delinsCACAGG (p.Ser1250=)
c.3566_3571delinsCACAGG (p.Ser1189=)
n.6102_6107delinsCACAGG
c.1869+1880_1869+1885delinsCACAGG (n.1869+1880_1869+1885delinsCACAGG)
c.3734_3739delinsCACAGG (p.Ser1245=)
c.3746_3751delinsCACAGG (p.Ser1249=)
c.3719_3724delinsCACAGG (p.Ser1240=)
c.3665_3670delinsCACAGG (p.Ser1222=)
c.3065_3070delinsCACAGG (p.Ser1022=)
c.4013_4018delinsCACAGG (p.Ser1338=)
c.4010_4015delinsCACAGG (p.Ser1337=)
c.3929_3934delinsCACAGG (p.Ser1310=)
c.3860_3865delinsCACAGG (p.Ser1287=)
c.3728_3733delinsCACAGG (p.Ser1243=)
c.3596_3601delinsCACAGG (p.Ser1199=)
20g.32436461_32436462insGCCGTATCATTAACA2568910414ASXL1c.3749_3750insGCCGTATCATTAA (p.Gln1251ProfsTer4)
c.3566_3567insGCCGTATCATTAA (p.Gln1190ProfsTer4)
n.6102_6103insGCCGTATCATTAA
c.1869+1880_1869+1881insGCCGTATCATTAA (n.1869+1880_1869+1881insGCCGTATCATTAA)
c.3734_3735insGCCGTATCATTAA (p.Gln1246ProfsTer4)
c.3746_3747insGCCGTATCATTAA (p.Gln1250ProfsTer4)
c.3719_3720insGCCGTATCATTAA (p.Gln1241ProfsTer4)
c.3665_3666insGCCGTATCATTAA (p.Gln1223ProfsTer4)
c.3065_3066insGCCGTATCATTAA (p.Gln1023ProfsTer4)
c.4013_4014insGCCGTATCATTAA (p.Gln1339ProfsTer4)
c.4010_4011insGCCGTATCATTAA (p.Gln1338ProfsTer4)
c.3929_3930insGCCGTATCATTAA (p.Gln1311ProfsTer4)
c.3860_3861insGCCGTATCATTAA (p.Gln1288ProfsTer4)
c.3728_3729insGCCGTATCATTAA (p.Gln1244ProfsTer4)
c.3596_3597insGCCGTATCATTAA (p.Gln1200ProfsTer4)
 gnomAD v3 gnomAD v4
20g.32436462A=CA2360293714ASXL1c.3750A= (p.Ser1250=)
c.3567A= (p.Ser1189=)
n.6103A=
c.1869+1881A= (n.1869+1881A=)
c.3735A= (p.Ser1245=)
c.3747A= (p.Ser1249=)
c.3720A= (p.Ser1240=)
c.3666A= (p.Ser1222=)
c.3066A= (p.Ser1022=)
c.4014A= (p.Ser1338=)
c.4011A= (p.Ser1337=)
c.3930A= (p.Ser1310=)
c.3861A= (p.Ser1287=)
c.3729A= (p.Ser1243=)
c.3597A= (p.Ser1199=)
20g.32436462A>CCA510467635ASXL1c.3750A>C (p.Ser1250=)
c.3567A>C (p.Ser1189=)
n.6103A>C
c.1869+1881A>C (n.1869+1881A>C)
c.3735A>C (p.Ser1245=)
c.3747A>C (p.Ser1249=)
c.3720A>C (p.Ser1240=)
c.3666A>C (p.Ser1222=)
c.3066A>C (p.Ser1022=)
c.4014A>C (p.Ser1338=)
c.4011A>C (p.Ser1337=)
c.3930A>C (p.Ser1310=)
c.3861A>C (p.Ser1287=)
c.3729A>C (p.Ser1243=)
c.3597A>C (p.Ser1199=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32436462A>GCA510467633ASXL1c.3750A>G (p.Ser1250=)
c.3567A>G (p.Ser1189=)
n.6103A>G
c.1869+1881A>G (n.1869+1881A>G)
c.3735A>G (p.Ser1245=)
c.3747A>G (p.Ser1249=)
c.3720A>G (p.Ser1240=)
c.3666A>G (p.Ser1222=)
c.3066A>G (p.Ser1022=)
c.4014A>G (p.Ser1338=)
c.4011A>G (p.Ser1337=)
c.3930A>G (p.Ser1310=)
c.3861A>G (p.Ser1287=)
c.3729A>G (p.Ser1243=)
c.3597A>G (p.Ser1199=)
 gnomAD v4
20g.32436462A>TCA510467634ASXL1c.3750A>T (p.Ser1250=)
c.3567A>T (p.Ser1189=)
n.6103A>T
c.1869+1881A>T (n.1869+1881A>T)
c.3735A>T (p.Ser1245=)
c.3747A>T (p.Ser1249=)
c.3720A>T (p.Ser1240=)
c.3666A>T (p.Ser1222=)
c.3066A>T (p.Ser1022=)
c.4014A>T (p.Ser1338=)
c.4011A>T (p.Ser1337=)
c.3930A>T (p.Ser1310=)
c.3861A>T (p.Ser1287=)
c.3729A>T (p.Ser1243=)
c.3597A>T (p.Ser1199=)
20g.32436466_32436470delCA658684237ASXL1c.3754_3758del (p.Asp1252Ter)
c.3571_3575del (p.Asp1191Ter)
n.6107_6111del
c.1869+1885_1869+1889del (n.1869+1885_1869+1889del)
c.3739_3743del (p.Asp1247Ter)
c.3751_3755del (p.Asp1251Ter)
c.3724_3728del (p.Asp1242Ter)
c.3670_3674del (p.Asp1224Ter)
c.3070_3074del (p.Asp1024Ter)
c.4018_4022del (p.Asp1340Ter)
c.4015_4019del (p.Asp1339Ter)
c.3934_3938del (p.Asp1312Ter)
c.3865_3869del (p.Asp1289Ter)
c.3733_3737del (p.Asp1245Ter)
c.3601_3605del (p.Asp1201Ter)
 ClinVar dbSNP
20g.32436463C>ACA408563725ASXL1c.3751C>A (p.Gln1251Lys)
c.3568C>A (p.Gln1190Lys)
n.6104C>A
c.1869+1882C>A (n.1869+1882C>A)
c.3736C>A (p.Gln1246Lys)
c.3748C>A (p.Gln1250Lys)
c.3721C>A (p.Gln1241Lys)
c.3667C>A (p.Gln1223Lys)
c.3067C>A (p.Gln1023Lys)
c.4015C>A (p.Gln1339Lys)
c.4012C>A (p.Gln1338Lys)
c.3931C>A (p.Gln1311Lys)
c.3862C>A (p.Gln1288Lys)
c.3730C>A (p.Gln1244Lys)
c.3598C>A (p.Gln1200Lys)
 gnomAD v3 gnomAD v4
20g.32436463C>GCA408563726ASXL1c.3751C>G (p.Gln1251Glu)
c.3568C>G (p.Gln1190Glu)
n.6104C>G
c.1869+1882C>G (n.1869+1882C>G)
c.3736C>G (p.Gln1246Glu)
c.3748C>G (p.Gln1250Glu)
c.3721C>G (p.Gln1241Glu)
c.3667C>G (p.Gln1223Glu)
c.3067C>G (p.Gln1023Glu)
c.4015C>G (p.Gln1339Glu)
c.4012C>G (p.Gln1338Glu)
c.3931C>G (p.Gln1311Glu)
c.3862C>G (p.Gln1288Glu)
c.3730C>G (p.Gln1244Glu)
c.3598C>G (p.Gln1200Glu)
20g.32436463C>TCA408563727ASXL1c.3751C>T (p.Gln1251Ter)
c.3568C>T (p.Gln1190Ter)
n.6104C>T
c.1869+1882C>T (n.1869+1882C>T)
c.3736C>T (p.Gln1246Ter)
c.3748C>T (p.Gln1250Ter)
c.3721C>T (p.Gln1241Ter)
c.3667C>T (p.Gln1223Ter)
c.3067C>T (p.Gln1023Ter)
c.4015C>T (p.Gln1339Ter)
c.4012C>T (p.Gln1338Ter)
c.3931C>T (p.Gln1311Ter)
c.3862C>T (p.Gln1288Ter)
c.3730C>T (p.Gln1244Ter)
c.3598C>T (p.Gln1200Ter)
 dbSNP COSMIC
20g.32436464A=CA2360293715ASXL1c.3752A= (p.Gln1251=)
c.3569A= (p.Gln1190=)
n.6105A=
c.1869+1883A= (n.1869+1883A=)
c.3737A= (p.Gln1246=)
c.3749A= (p.Gln1250=)
c.3722A= (p.Gln1241=)
c.3668A= (p.Gln1223=)
c.3068A= (p.Gln1023=)
c.4016A= (p.Gln1339=)
c.4013A= (p.Gln1338=)
c.3932A= (p.Gln1311=)
c.3863A= (p.Gln1288=)
c.3731A= (p.Gln1244=)
c.3599A= (p.Gln1200=)
20g.32436464A>CCA408563730ASXL1c.3752A>C (p.Gln1251Pro)
c.3569A>C (p.Gln1190Pro)
n.6105A>C
c.1869+1883A>C (n.1869+1883A>C)
c.3737A>C (p.Gln1246Pro)
c.3749A>C (p.Gln1250Pro)
c.3722A>C (p.Gln1241Pro)
c.3668A>C (p.Gln1223Pro)
c.3068A>C (p.Gln1023Pro)
c.4016A>C (p.Gln1339Pro)
c.4013A>C (p.Gln1338Pro)
c.3932A>C (p.Gln1311Pro)
c.3863A>C (p.Gln1288Pro)
c.3731A>C (p.Gln1244Pro)
c.3599A>C (p.Gln1200Pro)
20g.32436464A>GCA408563728ASXL1c.3752A>G (p.Gln1251Arg)
c.3569A>G (p.Gln1190Arg)
n.6105A>G
c.1869+1883A>G (n.1869+1883A>G)
c.3737A>G (p.Gln1246Arg)
c.3749A>G (p.Gln1250Arg)
c.3722A>G (p.Gln1241Arg)
c.3668A>G (p.Gln1223Arg)
c.3068A>G (p.Gln1023Arg)
c.4016A>G (p.Gln1339Arg)
c.4013A>G (p.Gln1338Arg)
c.3932A>G (p.Gln1311Arg)
c.3863A>G (p.Gln1288Arg)
c.3731A>G (p.Gln1244Arg)
c.3599A>G (p.Gln1200Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436464A>TCA408563729ASXL1c.3752A>T (p.Gln1251Leu)
c.3569A>T (p.Gln1190Leu)
n.6105A>T
c.1869+1883A>T (n.1869+1883A>T)
c.3737A>T (p.Gln1246Leu)
c.3749A>T (p.Gln1250Leu)
c.3722A>T (p.Gln1241Leu)
c.3668A>T (p.Gln1223Leu)
c.3068A>T (p.Gln1023Leu)
c.4016A>T (p.Gln1339Leu)
c.4013A>T (p.Gln1338Leu)
c.3932A>T (p.Gln1311Leu)
c.3863A>T (p.Gln1288Leu)
c.3731A>T (p.Gln1244Leu)
c.3599A>T (p.Gln1200Leu)
20g.32436465G>ACA510467640ASXL1c.3753G>A (p.Gln1251=)
c.3570G>A (p.Gln1190=)
n.6106G>A
c.1869+1884G>A (n.1869+1884G>A)
c.3738G>A (p.Gln1246=)
c.3750G>A (p.Gln1250=)
c.3723G>A (p.Gln1241=)
c.3669G>A (p.Gln1223=)
c.3069G>A (p.Gln1023=)
c.4017G>A (p.Gln1339=)
c.4014G>A (p.Gln1338=)
c.3933G>A (p.Gln1311=)
c.3864G>A (p.Gln1288=)
c.3732G>A (p.Gln1244=)
c.3600G>A (p.Gln1200=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436465G>CCA408563731ASXL1c.3753G>C (p.Gln1251His)
c.3570G>C (p.Gln1190His)
n.6106G>C
c.1869+1884G>C (n.1869+1884G>C)
c.3738G>C (p.Gln1246His)
c.3750G>C (p.Gln1250His)
c.3723G>C (p.Gln1241His)
c.3669G>C (p.Gln1223His)
c.3069G>C (p.Gln1023His)
c.4017G>C (p.Gln1339His)
c.4014G>C (p.Gln1338His)
c.3933G>C (p.Gln1311His)
c.3864G>C (p.Gln1288His)
c.3732G>C (p.Gln1244His)
c.3600G>C (p.Gln1200His)
20g.32436465G>TCA408563732ASXL1c.3753G>T (p.Gln1251His)
c.3570G>T (p.Gln1190His)
n.6106G>T
c.1869+1884G>T (n.1869+1884G>T)
c.3738G>T (p.Gln1246His)
c.3750G>T (p.Gln1250His)
c.3723G>T (p.Gln1241His)
c.3669G>T (p.Gln1223His)
c.3069G>T (p.Gln1023His)
c.4017G>T (p.Gln1339His)
c.4014G>T (p.Gln1338His)
c.3933G>T (p.Gln1311His)
c.3864G>T (p.Gln1288His)
c.3732G>T (p.Gln1244His)
c.3600G>T (p.Gln1200His)
20g.32436466G>ACA9808891ASXL1c.3754G>A (p.Asp1252Asn)
c.3571G>A (p.Asp1191Asn)
n.6107G>A
c.1869+1885G>A (n.1869+1885G>A)
c.3739G>A (p.Asp1247Asn)
c.3751G>A (p.Asp1251Asn)
c.3724G>A (p.Asp1242Asn)
c.3670G>A (p.Asp1224Asn)
c.3070G>A (p.Asp1024Asn)
c.4018G>A (p.Asp1340Asn)
c.4015G>A (p.Asp1339Asn)
c.3934G>A (p.Asp1312Asn)
c.3865G>A (p.Asp1289Asn)
c.3733G>A (p.Asp1245Asn)
c.3601G>A (p.Asp1201Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436466G>CCA408563733ASXL1c.3754G>C (p.Asp1252His)
c.3571G>C (p.Asp1191His)
n.6107G>C
c.1869+1885G>C (n.1869+1885G>C)
c.3739G>C (p.Asp1247His)
c.3751G>C (p.Asp1251His)
c.3724G>C (p.Asp1242His)
c.3670G>C (p.Asp1224His)
c.3070G>C (p.Asp1024His)
c.4018G>C (p.Asp1340His)
c.4015G>C (p.Asp1339His)
c.3934G>C (p.Asp1312His)
c.3865G>C (p.Asp1289His)
c.3733G>C (p.Asp1245His)
c.3601G>C (p.Asp1201His)
20g.32436466G=CA2360293716ASXL1c.3754G= (p.Asp1252=)
c.3571G= (p.Asp1191=)
n.6107G=
c.1869+1885G= (n.1869+1885G=)
c.3739G= (p.Asp1247=)
c.3751G= (p.Asp1251=)
c.3724G= (p.Asp1242=)
c.3670G= (p.Asp1224=)
c.3070G= (p.Asp1024=)
c.4018G= (p.Asp1340=)
c.4015G= (p.Asp1339=)
c.3934G= (p.Asp1312=)
c.3865G= (p.Asp1289=)
c.3733G= (p.Asp1245=)
c.3601G= (p.Asp1201=)
20g.32436466G>TCA408563734ASXL1c.3754G>T (p.Asp1252Tyr)
c.3571G>T (p.Asp1191Tyr)
n.6107G>T
c.1869+1885G>T (n.1869+1885G>T)
c.3739G>T (p.Asp1247Tyr)
c.3751G>T (p.Asp1251Tyr)
c.3724G>T (p.Asp1242Tyr)
c.3670G>T (p.Asp1224Tyr)
c.3070G>T (p.Asp1024Tyr)
c.4018G>T (p.Asp1340Tyr)
c.4015G>T (p.Asp1339Tyr)
c.3934G>T (p.Asp1312Tyr)
c.3865G>T (p.Asp1289Tyr)
c.3733G>T (p.Asp1245Tyr)
c.3601G>T (p.Asp1201Tyr)
20g.32436467A=CA2360293717ASXL1c.3755A= (p.Asp1252=)
c.3572A= (p.Asp1191=)
n.6108A=
c.1869+1886A= (n.1869+1886A=)
c.3740A= (p.Asp1247=)
c.3752A= (p.Asp1251=)
c.3725A= (p.Asp1242=)
c.3671A= (p.Asp1224=)
c.3071A= (p.Asp1024=)
c.4019A= (p.Asp1340=)
c.4016A= (p.Asp1339=)
c.3935A= (p.Asp1312=)
c.3866A= (p.Asp1289=)
c.3734A= (p.Asp1245=)
c.3602A= (p.Asp1201=)
20g.32436467A>CCA408563736ASXL1c.3755A>C (p.Asp1252Ala)
c.3572A>C (p.Asp1191Ala)
n.6108A>C
c.1869+1886A>C (n.1869+1886A>C)
c.3740A>C (p.Asp1247Ala)
c.3752A>C (p.Asp1251Ala)
c.3725A>C (p.Asp1242Ala)
c.3671A>C (p.Asp1224Ala)
c.3071A>C (p.Asp1024Ala)
c.4019A>C (p.Asp1340Ala)
c.4016A>C (p.Asp1339Ala)
c.3935A>C (p.Asp1312Ala)
c.3866A>C (p.Asp1289Ala)
c.3734A>C (p.Asp1245Ala)
c.3602A>C (p.Asp1201Ala)
20g.32436467A>GCA9808892ASXL1c.3755A>G (p.Asp1252Gly)
c.3572A>G (p.Asp1191Gly)
n.6108A>G
c.1869+1886A>G (n.1869+1886A>G)
c.3740A>G (p.Asp1247Gly)
c.3752A>G (p.Asp1251Gly)
c.3725A>G (p.Asp1242Gly)
c.3671A>G (p.Asp1224Gly)
c.3071A>G (p.Asp1024Gly)
c.4019A>G (p.Asp1340Gly)
c.4016A>G (p.Asp1339Gly)
c.3935A>G (p.Asp1312Gly)
c.3866A>G (p.Asp1289Gly)
c.3734A>G (p.Asp1245Gly)
c.3602A>G (p.Asp1201Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436467A>TCA408563735ASXL1c.3755A>T (p.Asp1252Val)
c.3572A>T (p.Asp1191Val)
n.6108A>T
c.1869+1886A>T (n.1869+1886A>T)
c.3740A>T (p.Asp1247Val)
c.3752A>T (p.Asp1251Val)
c.3725A>T (p.Asp1242Val)
c.3671A>T (p.Asp1224Val)
c.3071A>T (p.Asp1024Val)
c.4019A>T (p.Asp1340Val)
c.4016A>T (p.Asp1339Val)
c.3935A>T (p.Asp1312Val)
c.3866A>T (p.Asp1289Val)
c.3734A>T (p.Asp1245Val)
c.3602A>T (p.Asp1201Val)
20g.32436468C>ACA408563737ASXL1c.3756C>A (p.Asp1252Glu)
c.3573C>A (p.Asp1191Glu)
n.6109C>A
c.1869+1887C>A (n.1869+1887C>A)
c.3741C>A (p.Asp1247Glu)
c.3753C>A (p.Asp1251Glu)
c.3726C>A (p.Asp1242Glu)
c.3672C>A (p.Asp1224Glu)
c.3072C>A (p.Asp1024Glu)
c.4020C>A (p.Asp1340Glu)
c.4017C>A (p.Asp1339Glu)
c.3936C>A (p.Asp1312Glu)
c.3867C>A (p.Asp1289Glu)
c.3735C>A (p.Asp1245Glu)
c.3603C>A (p.Asp1201Glu)
20g.32436468C>GCA408563738ASXL1c.3756C>G (p.Asp1252Glu)
c.3573C>G (p.Asp1191Glu)
n.6109C>G
c.1869+1887C>G (n.1869+1887C>G)
c.3741C>G (p.Asp1247Glu)
c.3753C>G (p.Asp1251Glu)
c.3726C>G (p.Asp1242Glu)
c.3672C>G (p.Asp1224Glu)
c.3072C>G (p.Asp1024Glu)
c.4020C>G (p.Asp1340Glu)
c.4017C>G (p.Asp1339Glu)
c.3936C>G (p.Asp1312Glu)
c.3867C>G (p.Asp1289Glu)
c.3735C>G (p.Asp1245Glu)
c.3603C>G (p.Asp1201Glu)
20g.32436468C>TCA510467645ASXL1c.3756C>T (p.Asp1252=)
c.3573C>T (p.Asp1191=)
n.6109C>T
c.1869+1887C>T (n.1869+1887C>T)
c.3741C>T (p.Asp1247=)
c.3753C>T (p.Asp1251=)
c.3726C>T (p.Asp1242=)
c.3672C>T (p.Asp1224=)
c.3072C>T (p.Asp1024=)
c.4020C>T (p.Asp1340=)
c.4017C>T (p.Asp1339=)
c.3936C>T (p.Asp1312=)
c.3867C>T (p.Asp1289=)
c.3735C>T (p.Asp1245=)
c.3603C>T (p.Asp1201=)
20g.32436469A=CA2360293718ASXL1c.3757A= (p.Ser1253=)
c.3574A= (p.Ser1192=)
n.6110A=
c.1869+1888A= (n.1869+1888A=)
c.3742A= (p.Ser1248=)
c.3754A= (p.Ser1252=)
c.3727A= (p.Ser1243=)
c.3673A= (p.Ser1225=)
c.3073A= (p.Ser1025=)
c.4021A= (p.Ser1341=)
c.4018A= (p.Ser1340=)
c.3937A= (p.Ser1313=)
c.3868A= (p.Ser1290=)
c.3736A= (p.Ser1246=)
c.3604A= (p.Ser1202=)
20g.32436469A>CCA408563739ASXL1c.3757A>C (p.Ser1253Arg)
c.3574A>C (p.Ser1192Arg)
n.6110A>C
c.1869+1888A>C (n.1869+1888A>C)
c.3742A>C (p.Ser1248Arg)
c.3754A>C (p.Ser1252Arg)
c.3727A>C (p.Ser1243Arg)
c.3673A>C (p.Ser1225Arg)
c.3073A>C (p.Ser1025Arg)
c.4021A>C (p.Ser1341Arg)
c.4018A>C (p.Ser1340Arg)
c.3937A>C (p.Ser1313Arg)
c.3868A>C (p.Ser1290Arg)
c.3736A>C (p.Ser1246Arg)
c.3604A>C (p.Ser1202Arg)
20g.32436469A>GCA408563741ASXL1c.3757A>G (p.Ser1253Gly)
c.3574A>G (p.Ser1192Gly)
n.6110A>G
c.1869+1888A>G (n.1869+1888A>G)
c.3742A>G (p.Ser1248Gly)
c.3754A>G (p.Ser1252Gly)
c.3727A>G (p.Ser1243Gly)
c.3673A>G (p.Ser1225Gly)
c.3073A>G (p.Ser1025Gly)
c.4021A>G (p.Ser1341Gly)
c.4018A>G (p.Ser1340Gly)
c.3937A>G (p.Ser1313Gly)
c.3868A>G (p.Ser1290Gly)
c.3736A>G (p.Ser1246Gly)
c.3604A>G (p.Ser1202Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436469A>TCA408563740ASXL1c.3757A>T (p.Ser1253Cys)
c.3574A>T (p.Ser1192Cys)
n.6110A>T
c.1869+1888A>T (n.1869+1888A>T)
c.3742A>T (p.Ser1248Cys)
c.3754A>T (p.Ser1252Cys)
c.3727A>T (p.Ser1243Cys)
c.3673A>T (p.Ser1225Cys)
c.3073A>T (p.Ser1025Cys)
c.4021A>T (p.Ser1341Cys)
c.4018A>T (p.Ser1340Cys)
c.3937A>T (p.Ser1313Cys)
c.3868A>T (p.Ser1290Cys)
c.3736A>T (p.Ser1246Cys)
c.3604A>T (p.Ser1202Cys)
20g.32436470G>ACA408563742ASXL1c.3758G>A (p.Ser1253Asn)
c.3575G>A (p.Ser1192Asn)
n.6111G>A
c.1869+1889G>A (n.1869+1889G>A)
c.3743G>A (p.Ser1248Asn)
c.3755G>A (p.Ser1252Asn)
c.3728G>A (p.Ser1243Asn)
c.3674G>A (p.Ser1225Asn)
c.3074G>A (p.Ser1025Asn)
c.4022G>A (p.Ser1341Asn)
c.4019G>A (p.Ser1340Asn)
c.3938G>A (p.Ser1313Asn)
c.3869G>A (p.Ser1290Asn)
c.3737G>A (p.Ser1246Asn)
c.3605G>A (p.Ser1202Asn)
 gnomAD v4
20g.32436470G>CCA408563744ASXL1c.3758G>C (p.Ser1253Thr)
c.3575G>C (p.Ser1192Thr)
n.6111G>C
c.1869+1889G>C (n.1869+1889G>C)
c.3743G>C (p.Ser1248Thr)
c.3755G>C (p.Ser1252Thr)
c.3728G>C (p.Ser1243Thr)
c.3674G>C (p.Ser1225Thr)
c.3074G>C (p.Ser1025Thr)
c.4022G>C (p.Ser1341Thr)
c.4019G>C (p.Ser1340Thr)
c.3938G>C (p.Ser1313Thr)
c.3869G>C (p.Ser1290Thr)
c.3737G>C (p.Ser1246Thr)
c.3605G>C (p.Ser1202Thr)
20g.32436470G=CA2360293719ASXL1c.3758G= (p.Ser1253=)
c.3575G= (p.Ser1192=)
n.6111G=
c.1869+1889G= (n.1869+1889G=)
c.3743G= (p.Ser1248=)
c.3755G= (p.Ser1252=)
c.3728G= (p.Ser1243=)
c.3674G= (p.Ser1225=)
c.3074G= (p.Ser1025=)
c.4022G= (p.Ser1341=)
c.4019G= (p.Ser1340=)
c.3938G= (p.Ser1313=)
c.3869G= (p.Ser1290=)
c.3737G= (p.Ser1246=)
c.3605G= (p.Ser1202=)
20g.32436470G>TCA408563743ASXL1c.3758G>T (p.Ser1253Ile)
c.3575G>T (p.Ser1192Ile)
n.6111G>T
c.1869+1889G>T (n.1869+1889G>T)
c.3743G>T (p.Ser1248Ile)
c.3755G>T (p.Ser1252Ile)
c.3728G>T (p.Ser1243Ile)
c.3674G>T (p.Ser1225Ile)
c.3074G>T (p.Ser1025Ile)
c.4022G>T (p.Ser1341Ile)
c.4019G>T (p.Ser1340Ile)
c.3938G>T (p.Ser1313Ile)
c.3869G>T (p.Ser1290Ile)
c.3737G>T (p.Ser1246Ile)
c.3605G>T (p.Ser1202Ile)
20g.32436470_32436471insCCA9808893ASXL1c.3758_3759insC (p.Asn1254Ter)
c.3575_3576insC (p.Asn1193Ter)
n.6111_6112insC
c.1869+1889_1869+1890insC (n.1869+1889_1869+1890insC)
c.3743_3744insC (p.Asn1249Ter)
c.3755_3756insC (p.Asn1253Ter)
c.3728_3729insC (p.Asn1244Ter)
c.3674_3675insC (p.Asn1226Ter)
c.3074_3075insC (p.Asn1026Ter)
c.4022_4023insC (p.Asn1342Ter)
c.4019_4020insC (p.Asn1341Ter)
c.3938_3939insC (p.Asn1314Ter)
c.3869_3870insC (p.Asn1291Ter)
c.3737_3738insC (p.Asn1247Ter)
c.3605_3606insC (p.Asn1203Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436471T>ACA408563745ASXL1c.3759T>A (p.Ser1253Arg)
c.3576T>A (p.Ser1192Arg)
n.6112T>A
c.1869+1890T>A (n.1869+1890T>A)
c.3744T>A (p.Ser1248Arg)
c.3756T>A (p.Ser1252Arg)
c.3729T>A (p.Ser1243Arg)
c.3675T>A (p.Ser1225Arg)
c.3075T>A (p.Ser1025Arg)
c.4023T>A (p.Ser1341Arg)
c.4020T>A (p.Ser1340Arg)
c.3939T>A (p.Ser1313Arg)
c.3870T>A (p.Ser1290Arg)
c.3738T>A (p.Ser1246Arg)
c.3606T>A (p.Ser1202Arg)
 dbSNP
20g.32436471T>CCA9808894ASXL1c.3759T>C (p.Ser1253=)
c.3576T>C (p.Ser1192=)
n.6112T>C
c.1869+1890T>C (n.1869+1890T>C)
c.3744T>C (p.Ser1248=)
c.3756T>C (p.Ser1252=)
c.3729T>C (p.Ser1243=)
c.3675T>C (p.Ser1225=)
c.3075T>C (p.Ser1025=)
c.4023T>C (p.Ser1341=)
c.4020T>C (p.Ser1340=)
c.3939T>C (p.Ser1313=)
c.3870T>C (p.Ser1290=)
c.3738T>C (p.Ser1246=)
c.3606T>C (p.Ser1202=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436471T>GCA408563746ASXL1c.3759T>G (p.Ser1253Arg)
c.3576T>G (p.Ser1192Arg)
n.6112T>G
c.1869+1890T>G (n.1869+1890T>G)
c.3744T>G (p.Ser1248Arg)
c.3756T>G (p.Ser1252Arg)
c.3729T>G (p.Ser1243Arg)
c.3675T>G (p.Ser1225Arg)
c.3075T>G (p.Ser1025Arg)
c.4023T>G (p.Ser1341Arg)
c.4020T>G (p.Ser1340Arg)
c.3939T>G (p.Ser1313Arg)
c.3870T>G (p.Ser1290Arg)
c.3738T>G (p.Ser1246Arg)
c.3606T>G (p.Ser1202Arg)
20g.32436471T=CA2360293720ASXL1c.3759T= (p.Ser1253=)
c.3576T= (p.Ser1192=)
n.6112T=
c.1869+1890T= (n.1869+1890T=)
c.3744T= (p.Ser1248=)
c.3756T= (p.Ser1252=)
c.3729T= (p.Ser1243=)
c.3675T= (p.Ser1225=)
c.3075T= (p.Ser1025=)
c.4023T= (p.Ser1341=)
c.4020T= (p.Ser1340=)
c.3939T= (p.Ser1313=)
c.3870T= (p.Ser1290=)
c.3738T= (p.Ser1246=)
c.3606T= (p.Ser1202=)
20g.32436472A>CCA408563747ASXL1c.3760A>C (p.Asn1254His)
c.3577A>C (p.Asn1193His)
n.6113A>C
c.1869+1891A>C (n.1869+1891A>C)
c.3745A>C (p.Asn1249His)
c.3757A>C (p.Asn1253His)
c.3730A>C (p.Asn1244His)
c.3676A>C (p.Asn1226His)
c.3076A>C (p.Asn1026His)
c.4024A>C (p.Asn1342His)
c.4021A>C (p.Asn1341His)
c.3940A>C (p.Asn1314His)
c.3871A>C (p.Asn1291His)
c.3739A>C (p.Asn1247His)
c.3607A>C (p.Asn1203His)
20g.32436472A>GCA408563748ASXL1c.3760A>G (p.Asn1254Asp)
c.3577A>G (p.Asn1193Asp)
n.6113A>G
c.1869+1891A>G (n.1869+1891A>G)
c.3745A>G (p.Asn1249Asp)
c.3757A>G (p.Asn1253Asp)
c.3730A>G (p.Asn1244Asp)
c.3676A>G (p.Asn1226Asp)
c.3076A>G (p.Asn1026Asp)
c.4024A>G (p.Asn1342Asp)
c.4021A>G (p.Asn1341Asp)
c.3940A>G (p.Asn1314Asp)
c.3871A>G (p.Asn1291Asp)
c.3739A>G (p.Asn1247Asp)
c.3607A>G (p.Asn1203Asp)
20g.32436472A>TCA408563749ASXL1c.3760A>T (p.Asn1254Tyr)
c.3577A>T (p.Asn1193Tyr)
n.6113A>T
c.1869+1891A>T (n.1869+1891A>T)
c.3745A>T (p.Asn1249Tyr)
c.3757A>T (p.Asn1253Tyr)
c.3730A>T (p.Asn1244Tyr)
c.3676A>T (p.Asn1226Tyr)
c.3076A>T (p.Asn1026Tyr)
c.4024A>T (p.Asn1342Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3940A>T (p.Asn1314Tyr)
c.3871A>T (p.Asn1291Tyr)
c.3739A>T (p.Asn1247Tyr)
c.3607A>T (p.Asn1203Tyr)
20g.32436473A=CA2360293721ASXL1c.3761A= (p.Asn1254=)
c.3578A= (p.Asn1193=)
n.6114A=
c.1869+1892A= (n.1869+1892A=)
c.3746A= (p.Asn1249=)
c.3758A= (p.Asn1253=)
c.3731A= (p.Asn1244=)
c.3677A= (p.Asn1226=)
c.3077A= (p.Asn1026=)
c.4025A= (p.Asn1342=)
c.4022A= (p.Asn1341=)
c.3941A= (p.Asn1314=)
c.3872A= (p.Asn1291=)
c.3740A= (p.Asn1247=)
c.3608A= (p.Asn1203=)
20g.32436473A>CCA408563751ASXL1c.3761A>C (p.Asn1254Thr)
c.3578A>C (p.Asn1193Thr)
n.6114A>C
c.1869+1892A>C (n.1869+1892A>C)
c.3746A>C (p.Asn1249Thr)
c.3758A>C (p.Asn1253Thr)
c.3731A>C (p.Asn1244Thr)
c.3677A>C (p.Asn1226Thr)
c.3077A>C (p.Asn1026Thr)
c.4025A>C (p.Asn1342Thr)
c.4022A>C (p.Asn1341Thr)
c.3941A>C (p.Asn1314Thr)
c.3872A>C (p.Asn1291Thr)
c.3740A>C (p.Asn1247Thr)
c.3608A>C (p.Asn1203Thr)
20g.32436473A>GCA156996ASXL1c.3761A>G (p.Asn1254Ser)
c.3578A>G (p.Asn1193Ser)
n.6114A>G
c.1869+1892A>G (n.1869+1892A>G)
c.3746A>G (p.Asn1249Ser)
c.3758A>G (p.Asn1253Ser)
c.3731A>G (p.Asn1244Ser)
c.3677A>G (p.Asn1226Ser)
c.3077A>G (p.Asn1026Ser)
c.4025A>G (p.Asn1342Ser)
c.4022A>G (p.Asn1341Ser)
c.3941A>G (p.Asn1314Ser)
c.3872A>G (p.Asn1291Ser)
c.3740A>G (p.Asn1247Ser)
c.3608A>G (p.Asn1203Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436473A>TCA408563750ASXL1c.3761A>T (p.Asn1254Ile)
c.3578A>T (p.Asn1193Ile)
n.6114A>T
c.1869+1892A>T (n.1869+1892A>T)
c.3746A>T (p.Asn1249Ile)
c.3758A>T (p.Asn1253Ile)
c.3731A>T (p.Asn1244Ile)
c.3677A>T (p.Asn1226Ile)
c.3077A>T (p.Asn1026Ile)
c.4025A>T (p.Asn1342Ile)
c.4022A>T (p.Asn1341Ile)
c.3941A>T (p.Asn1314Ile)
c.3872A>T (p.Asn1291Ile)
c.3740A>T (p.Asn1247Ile)
c.3608A>T (p.Asn1203Ile)
20g.32436474T>ACA408563752ASXL1c.3762T>A (p.Asn1254Lys)
c.3579T>A (p.Asn1193Lys)
n.6115T>A
c.1869+1893T>A (n.1869+1893T>A)
c.3747T>A (p.Asn1249Lys)
c.3759T>A (p.Asn1253Lys)
c.3732T>A (p.Asn1244Lys)
c.3678T>A (p.Asn1226Lys)
c.3078T>A (p.Asn1026Lys)
c.4026T>A (p.Asn1342Lys)
c.4023T>A (p.Asn1341Lys)
c.3942T>A (p.Asn1314Lys)
c.3873T>A (p.Asn1291Lys)
c.3741T>A (p.Asn1247Lys)
c.3609T>A (p.Asn1203Lys)
20g.32436474T>CCA510467650ASXL1c.3762T>C (p.Asn1254=)
c.3579T>C (p.Asn1193=)
n.6115T>C
c.1869+1893T>C (n.1869+1893T>C)
c.3747T>C (p.Asn1249=)
c.3759T>C (p.Asn1253=)
c.3732T>C (p.Asn1244=)
c.3678T>C (p.Asn1226=)
c.3078T>C (p.Asn1026=)
c.4026T>C (p.Asn1342=)
c.4023T>C (p.Asn1341=)
c.3942T>C (p.Asn1314=)
c.3873T>C (p.Asn1291=)
c.3741T>C (p.Asn1247=)
c.3609T>C (p.Asn1203=)
20g.32436474T>GCA408563753ASXL1c.3762T>G (p.Asn1254Lys)
c.3579T>G (p.Asn1193Lys)
n.6115T>G
c.1869+1893T>G (n.1869+1893T>G)
c.3747T>G (p.Asn1249Lys)
c.3759T>G (p.Asn1253Lys)
c.3732T>G (p.Asn1244Lys)
c.3678T>G (p.Asn1226Lys)
c.3078T>G (p.Asn1026Lys)
c.4026T>G (p.Asn1342Lys)
c.4023T>G (p.Asn1341Lys)
c.3942T>G (p.Asn1314Lys)
c.3873T>G (p.Asn1291Lys)
c.3741T>G (p.Asn1247Lys)
c.3609T>G (p.Asn1203Lys)
20g.32436475delCA2695229725ASXL1c.3763del (p.Ser1255GlnfsTer25)
c.3580del (p.Ser1194GlnfsTer25)
n.6116del
c.1869+1894del (n.1869+1894del)
c.3748del (p.Ser1250GlnfsTer25)
c.3760del (p.Ser1254GlnfsTer25)
c.3733del (p.Ser1245GlnfsTer25)
c.3679del (p.Ser1227GlnfsTer25)
c.3079del (p.Ser1027GlnfsTer25)
c.4027del (p.Ser1343GlnfsTer25)
c.4024del (p.Ser1342GlnfsTer25)
c.3943del (p.Ser1315GlnfsTer25)
c.3874del (p.Ser1292GlnfsTer25)
c.3742del (p.Ser1248GlnfsTer25)
c.3610del (p.Ser1204GlnfsTer25)
20g.32436475T>ACA408563754ASXL1c.3763T>A (p.Ser1255Thr)
c.3580T>A (p.Ser1194Thr)
n.6116T>A
c.1869+1894T>A (n.1869+1894T>A)
c.3748T>A (p.Ser1250Thr)
c.3760T>A (p.Ser1254Thr)
c.3733T>A (p.Ser1245Thr)
c.3679T>A (p.Ser1227Thr)
c.3079T>A (p.Ser1027Thr)
c.4027T>A (p.Ser1343Thr)
c.4024T>A (p.Ser1342Thr)
c.3943T>A (p.Ser1315Thr)
c.3874T>A (p.Ser1292Thr)
c.3742T>A (p.Ser1248Thr)
c.3610T>A (p.Ser1204Thr)
20g.32436475T>CCA408563755ASXL1c.3763T>C (p.Ser1255Pro)
c.3580T>C (p.Ser1194Pro)
n.6116T>C
c.1869+1894T>C (n.1869+1894T>C)
c.3748T>C (p.Ser1250Pro)
c.3760T>C (p.Ser1254Pro)
c.3733T>C (p.Ser1245Pro)
c.3679T>C (p.Ser1227Pro)
c.3079T>C (p.Ser1027Pro)
c.4027T>C (p.Ser1343Pro)
c.4024T>C (p.Ser1342Pro)
c.3943T>C (p.Ser1315Pro)
c.3874T>C (p.Ser1292Pro)
c.3742T>C (p.Ser1248Pro)
c.3610T>C (p.Ser1204Pro)
 ClinVar dbSNP
20g.32436475T>GCA408563756ASXL1c.3763T>G (p.Ser1255Ala)
c.3580T>G (p.Ser1194Ala)
n.6116T>G
c.1869+1894T>G (n.1869+1894T>G)
c.3748T>G (p.Ser1250Ala)
c.3760T>G (p.Ser1254Ala)
c.3733T>G (p.Ser1245Ala)
c.3679T>G (p.Ser1227Ala)
c.3079T>G (p.Ser1027Ala)
c.4027T>G (p.Ser1343Ala)
c.4024T>G (p.Ser1342Ala)
c.3943T>G (p.Ser1315Ala)
c.3874T>G (p.Ser1292Ala)
c.3742T>G (p.Ser1248Ala)
c.3610T>G (p.Ser1204Ala)
20g.32436476delCA2695202491ASXL1c.3764del (p.Ser1255Ter)
c.3581del (p.Ser1194Ter)
n.6117del
c.1869+1895del (n.1869+1895del)
c.3749del (p.Ser1250Ter)
c.3761del (p.Ser1254Ter)
c.3734del (p.Ser1245Ter)
c.3680del (p.Ser1227Ter)
c.3080del (p.Ser1027Ter)
c.4028del (p.Ser1343Ter)
c.4025del (p.Ser1342Ter)
c.3944del (p.Ser1315Ter)
c.3875del (p.Ser1292Ter)
c.3743del (p.Ser1248Ter)
c.3611del (p.Ser1204Ter)
20g.32436476C>ACA408563757ASXL1c.3764C>A (p.Ser1255Ter)
c.3581C>A (p.Ser1194Ter)
n.6117C>A
c.1869+1895C>A (n.1869+1895C>A)
c.3749C>A (p.Ser1250Ter)
c.3761C>A (p.Ser1254Ter)
c.3734C>A (p.Ser1245Ter)
c.3680C>A (p.Ser1227Ter)
c.3080C>A (p.Ser1027Ter)
c.4028C>A (p.Ser1343Ter)
c.4025C>A (p.Ser1342Ter)
c.3944C>A (p.Ser1315Ter)
c.3875C>A (p.Ser1292Ter)
c.3743C>A (p.Ser1248Ter)
c.3611C>A (p.Ser1204Ter)
 dbSNP
20g.32436476C>GCA408563759ASXL1c.3764C>G (p.Ser1255Ter)
c.3581C>G (p.Ser1194Ter)
n.6117C>G
c.1869+1895C>G (n.1869+1895C>G)
c.3749C>G (p.Ser1250Ter)
c.3761C>G (p.Ser1254Ter)
c.3734C>G (p.Ser1245Ter)
c.3680C>G (p.Ser1227Ter)
c.3080C>G (p.Ser1027Ter)
c.4028C>G (p.Ser1343Ter)
c.4025C>G (p.Ser1342Ter)
c.3944C>G (p.Ser1315Ter)
c.3875C>G (p.Ser1292Ter)
c.3743C>G (p.Ser1248Ter)
c.3611C>G (p.Ser1204Ter)
 COSMIC
20g.32436476C>TCA408563758ASXL1c.3764C>T (p.Ser1255Leu)
c.3581C>T (p.Ser1194Leu)
n.6117C>T
c.1869+1895C>T (n.1869+1895C>T)
c.3749C>T (p.Ser1250Leu)
c.3761C>T (p.Ser1254Leu)
c.3734C>T (p.Ser1245Leu)
c.3680C>T (p.Ser1227Leu)
c.3080C>T (p.Ser1027Leu)
c.4028C>T (p.Ser1343Leu)
c.4025C>T (p.Ser1342Leu)
c.3944C>T (p.Ser1315Leu)
c.3875C>T (p.Ser1292Leu)
c.3743C>T (p.Ser1248Leu)
c.3611C>T (p.Ser1204Leu)
 gnomAD v4
20g.32436476_32436477delinsCACA2360293722ASXL1c.3764_3765delinsCA (p.Ser1255=)
c.3581_3582delinsCA (p.Ser1194=)
n.6117_6118delinsCA
c.1869+1895_1869+1896delinsCA (n.1869+1895_1869+1896delinsCA)
c.3749_3750delinsCA (p.Ser1250=)
c.3761_3762delinsCA (p.Ser1254=)
c.3734_3735delinsCA (p.Ser1245=)
c.3680_3681delinsCA (p.Ser1227=)
c.3080_3081delinsCA (p.Ser1027=)
c.4028_4029delinsCA (p.Ser1343=)
c.4025_4026delinsCA (p.Ser1342=)
c.3944_3945delinsCA (p.Ser1315=)
c.3875_3876delinsCA (p.Ser1292=)
c.3743_3744delinsCA (p.Ser1248=)
c.3611_3612delinsCA (p.Ser1204=)
20g.32436477A>CCA510467651ASXL1c.3765A>C (p.Ser1255=)
c.3582A>C (p.Ser1194=)
n.6118A>C
c.1869+1896A>C (n.1869+1896A>C)
c.3750A>C (p.Ser1250=)
c.3762A>C (p.Ser1254=)
c.3735A>C (p.Ser1245=)
c.3681A>C (p.Ser1227=)
c.3081A>C (p.Ser1027=)
c.4029A>C (p.Ser1343=)
c.4026A>C (p.Ser1342=)
c.3945A>C (p.Ser1315=)
c.3876A>C (p.Ser1292=)
c.3744A>C (p.Ser1248=)
c.3612A>C (p.Ser1204=)
20g.32436477A>GCA510467652ASXL1c.3765A>G (p.Ser1255=)
c.3582A>G (p.Ser1194=)
n.6118A>G
c.1869+1896A>G (n.1869+1896A>G)
c.3750A>G (p.Ser1250=)
c.3762A>G (p.Ser1254=)
c.3735A>G (p.Ser1245=)
c.3681A>G (p.Ser1227=)
c.3081A>G (p.Ser1027=)
c.4029A>G (p.Ser1343=)
c.4026A>G (p.Ser1342=)
c.3945A>G (p.Ser1315=)
c.3876A>G (p.Ser1292=)
c.3744A>G (p.Ser1248=)
c.3612A>G (p.Ser1204=)
20g.32436477A>TCA510467653ASXL1c.3765A>T (p.Ser1255=)
c.3582A>T (p.Ser1194=)
n.6118A>T
c.1869+1896A>T (n.1869+1896A>T)
c.3750A>T (p.Ser1250=)
c.3762A>T (p.Ser1254=)
c.3735A>T (p.Ser1245=)
c.3681A>T (p.Ser1227=)
c.3081A>T (p.Ser1027=)
c.4029A>T (p.Ser1343=)
c.4026A>T (p.Ser1342=)
c.3945A>T (p.Ser1315=)
c.3876A>T (p.Ser1292=)
c.3744A>T (p.Ser1248=)
c.3612A>T (p.Ser1204=)
20g.32436479delCA9808895ASXL1c.3767del (p.Asn1256MetfsTer24)
c.3584del (p.Asn1195MetfsTer24)
n.6120del
c.1869+1898del (n.1869+1898del)
c.3752del (p.Asn1251MetfsTer24)
c.3764del (p.Asn1255MetfsTer24)
c.3737del (p.Asn1246MetfsTer24)
c.3683del (p.Asn1228MetfsTer24)
c.3083del (p.Asn1028MetfsTer24)
c.4031del (p.Asn1344MetfsTer24)
c.4028del (p.Asn1343MetfsTer24)
c.3947del (p.Asn1316MetfsTer24)
c.3878del (p.Asn1293MetfsTer24)
c.3746del (p.Asn1249MetfsTer24)
c.3614del (p.Asn1205MetfsTer24)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436478A>CCA408563760ASXL1c.3766A>C (p.Asn1256His)
c.3583A>C (p.Asn1195His)
n.6119A>C
c.1869+1897A>C (n.1869+1897A>C)
c.3751A>C (p.Asn1251His)
c.3763A>C (p.Asn1255His)
c.3736A>C (p.Asn1246His)
c.3682A>C (p.Asn1228His)
c.3082A>C (p.Asn1028His)
c.4030A>C (p.Asn1344His)
c.4027A>C (p.Asn1343His)
c.3946A>C (p.Asn1316His)
c.3877A>C (p.Asn1293His)
c.3745A>C (p.Asn1249His)
c.3613A>C (p.Asn1205His)
20g.32436478A>GCA408563761ASXL1c.3766A>G (p.Asn1256Asp)
c.3583A>G (p.Asn1195Asp)
n.6119A>G
c.1869+1897A>G (n.1869+1897A>G)
c.3751A>G (p.Asn1251Asp)
c.3763A>G (p.Asn1255Asp)
c.3736A>G (p.Asn1246Asp)
c.3682A>G (p.Asn1228Asp)
c.3082A>G (p.Asn1028Asp)
c.4030A>G (p.Asn1344Asp)
c.4027A>G (p.Asn1343Asp)
c.3946A>G (p.Asn1316Asp)
c.3877A>G (p.Asn1293Asp)
c.3745A>G (p.Asn1249Asp)
c.3613A>G (p.Asn1205Asp)
20g.32436478A>TCA408563762ASXL1c.3766A>T (p.Asn1256Tyr)
c.3583A>T (p.Asn1195Tyr)
n.6119A>T
c.1869+1897A>T (n.1869+1897A>T)
c.3751A>T (p.Asn1251Tyr)
c.3763A>T (p.Asn1255Tyr)
c.3736A>T (p.Asn1246Tyr)
c.3682A>T (p.Asn1228Tyr)
c.3082A>T (p.Asn1028Tyr)
c.4030A>T (p.Asn1344Tyr)
c.4027A>T (p.Asn1343Tyr)
c.3946A>T (p.Asn1316Tyr)
c.3877A>T (p.Asn1293Tyr)
c.3745A>T (p.Asn1249Tyr)
c.3613A>T (p.Asn1205Tyr)
20g.32436479A=CA2360293723ASXL1c.3767A= (p.Asn1256=)
c.3584A= (p.Asn1195=)
n.6120A=
c.1869+1898A= (n.1869+1898A=)
c.3752A= (p.Asn1251=)
c.3764A= (p.Asn1255=)
c.3737A= (p.Asn1246=)
c.3683A= (p.Asn1228=)
c.3083A= (p.Asn1028=)
c.4031A= (p.Asn1344=)
c.4028A= (p.Asn1343=)
c.3947A= (p.Asn1316=)
c.3878A= (p.Asn1293=)
c.3746A= (p.Asn1249=)
c.3614A= (p.Asn1205=)
20g.32436479A>CCA408563763ASXL1c.3767A>C (p.Asn1256Thr)
c.3584A>C (p.Asn1195Thr)
n.6120A>C
c.1869+1898A>C (n.1869+1898A>C)
c.3752A>C (p.Asn1251Thr)
c.3764A>C (p.Asn1255Thr)
c.3737A>C (p.Asn1246Thr)
c.3683A>C (p.Asn1228Thr)
c.3083A>C (p.Asn1028Thr)
c.4031A>C (p.Asn1344Thr)
c.4028A>C (p.Asn1343Thr)
c.3947A>C (p.Asn1316Thr)
c.3878A>C (p.Asn1293Thr)
c.3746A>C (p.Asn1249Thr)
c.3614A>C (p.Asn1205Thr)
20g.32436479A>GCA408563764ASXL1c.3767A>G (p.Asn1256Ser)
c.3584A>G (p.Asn1195Ser)
n.6120A>G
c.1869+1898A>G (n.1869+1898A>G)
c.3752A>G (p.Asn1251Ser)
c.3764A>G (p.Asn1255Ser)
c.3737A>G (p.Asn1246Ser)
c.3683A>G (p.Asn1228Ser)
c.3083A>G (p.Asn1028Ser)
c.4031A>G (p.Asn1344Ser)
c.4028A>G (p.Asn1343Ser)
c.3947A>G (p.Asn1316Ser)
c.3878A>G (p.Asn1293Ser)
c.3746A>G (p.Asn1249Ser)
c.3614A>G (p.Asn1205Ser)
 gnomAD v4
20g.32436479A>TCA9808896ASXL1c.3767A>T (p.Asn1256Ile)
c.3584A>T (p.Asn1195Ile)
n.6120A>T
c.1869+1898A>T (n.1869+1898A>T)
c.3752A>T (p.Asn1251Ile)
c.3764A>T (p.Asn1255Ile)
c.3737A>T (p.Asn1246Ile)
c.3683A>T (p.Asn1228Ile)
c.3083A>T (p.Asn1028Ile)
c.4031A>T (p.Asn1344Ile)
c.4028A>T (p.Asn1343Ile)
c.3947A>T (p.Asn1316Ile)
c.3878A>T (p.Asn1293Ile)
c.3746A>T (p.Asn1249Ile)
c.3614A>T (p.Asn1205Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436480delCA658768355ASXL1c.3768del (p.Asn1256LysfsTer24)
c.3585del (p.Asn1195LysfsTer24)
n.6121del
c.1869+1899del (n.1869+1899del)
c.3753del (p.Asn1251LysfsTer24)
c.3765del (p.Asn1255LysfsTer24)
c.3738del (p.Asn1246LysfsTer24)
c.3684del (p.Asn1228LysfsTer24)
c.3084del (p.Asn1028LysfsTer24)
c.4032del (p.Asn1344LysfsTer24)
c.4029del (p.Asn1343LysfsTer24)
c.3948del (p.Asn1316LysfsTer24)
c.3879del (p.Asn1293LysfsTer24)
c.3747del (p.Asn1249LysfsTer24)
c.3615del (p.Asn1205LysfsTer24)
20g.32436480T>ACA408563765ASXL1c.3768T>A (p.Asn1256Lys)
c.3585T>A (p.Asn1195Lys)
n.6121T>A
c.1869+1899T>A (n.1869+1899T>A)
c.3753T>A (p.Asn1251Lys)
c.3765T>A (p.Asn1255Lys)
c.3738T>A (p.Asn1246Lys)
c.3684T>A (p.Asn1228Lys)
c.3084T>A (p.Asn1028Lys)
c.4032T>A (p.Asn1344Lys)
c.4029T>A (p.Asn1343Lys)
c.3948T>A (p.Asn1316Lys)
c.3879T>A (p.Asn1293Lys)
c.3747T>A (p.Asn1249Lys)
c.3615T>A (p.Asn1205Lys)
20g.32436480T>CCA510467657ASXL1c.3768T>C (p.Asn1256=)
c.3585T>C (p.Asn1195=)
n.6121T>C
c.1869+1899T>C (n.1869+1899T>C)
c.3753T>C (p.Asn1251=)
c.3765T>C (p.Asn1255=)
c.3738T>C (p.Asn1246=)
c.3684T>C (p.Asn1228=)
c.3084T>C (p.Asn1028=)
c.4032T>C (p.Asn1344=)
c.4029T>C (p.Asn1343=)
c.3948T>C (p.Asn1316=)
c.3879T>C (p.Asn1293=)
c.3747T>C (p.Asn1249=)
c.3615T>C (p.Asn1205=)
20g.32436480T>GCA408563766ASXL1c.3768T>G (p.Asn1256Lys)
c.3585T>G (p.Asn1195Lys)
n.6121T>G
c.1869+1899T>G (n.1869+1899T>G)
c.3753T>G (p.Asn1251Lys)
c.3765T>G (p.Asn1255Lys)
c.3738T>G (p.Asn1246Lys)
c.3684T>G (p.Asn1228Lys)
c.3084T>G (p.Asn1028Lys)
c.4032T>G (p.Asn1344Lys)
c.4029T>G (p.Asn1343Lys)
c.3948T>G (p.Asn1316Lys)
c.3879T>G (p.Asn1293Lys)
c.3747T>G (p.Asn1249Lys)
c.3615T>G (p.Asn1205Lys)
20g.32436480_32436481delinsTGCA2360293724ASXL1c.3768_3769delinsTG (p.Asn1256=)
c.3585_3586delinsTG (p.Asn1195=)
n.6121_6122delinsTG
c.1869+1899_1869+1900delinsTG (n.1869+1899_1869+1900delinsTG)
c.3753_3754delinsTG (p.Asn1251=)
c.3765_3766delinsTG (p.Asn1255=)
c.3738_3739delinsTG (p.Asn1246=)
c.3684_3685delinsTG (p.Asn1228=)
c.3084_3085delinsTG (p.Asn1028=)
c.4032_4033delinsTG (p.Asn1344=)
c.4029_4030delinsTG (p.Asn1343=)
c.3948_3949delinsTG (p.Asn1316=)
c.3879_3880delinsTG (p.Asn1293=)
c.3747_3748delinsTG (p.Asn1249=)
c.3615_3616delinsTG (p.Asn1205=)
20g.32436480_32436481dupCA635268552ASXL1c.3768_3769dup (p.Ala1257ValfsTer24)
c.3585_3586dup (p.Ala1196ValfsTer24)
n.6121_6122dup
c.1869+1899_1869+1900dup (n.1869+1899_1869+1900dup)
c.3753_3754dup (p.Ala1252ValfsTer24)
c.3765_3766dup (p.Ala1256ValfsTer24)
c.3738_3739dup (p.Ala1247ValfsTer24)
c.3684_3685dup (p.Ala1229ValfsTer24)
c.3084_3085dup (p.Ala1029ValfsTer24)
c.4032_4033dup (p.Ala1345ValfsTer24)
c.4029_4030dup (p.Ala1344ValfsTer24)
c.3948_3949dup (p.Ala1317ValfsTer24)
c.3879_3880dup (p.Ala1294ValfsTer24)
c.3747_3748dup (p.Ala1250ValfsTer24)
c.3615_3616dup (p.Ala1206ValfsTer24)
 gnomAD v2 gnomAD v4
20g.32436481delCA915952954ASXL1c.3769del (p.Ala1257LeufsTer23)
c.3586del (p.Ala1196LeufsTer23)
n.6122del
c.1869+1900del (n.1869+1900del)
c.3754del (p.Ala1252LeufsTer23)
c.3766del (p.Ala1256LeufsTer23)
c.3739del (p.Ala1247LeufsTer23)
c.3685del (p.Ala1229LeufsTer23)
c.3085del (p.Ala1029LeufsTer23)
c.4033del (p.Ala1345LeufsTer23)
c.4030del (p.Ala1344LeufsTer23)
c.3949del (p.Ala1317LeufsTer23)
c.3880del (p.Ala1294LeufsTer23)
c.3748del (p.Ala1250LeufsTer23)
c.3616del (p.Ala1206LeufsTer23)
 ClinVar dbSNP
20g.32436481G>ACA408563767ASXL1c.3769G>A (p.Ala1257Thr)
c.3586G>A (p.Ala1196Thr)
n.6122G>A
c.1869+1900G>A (n.1869+1900G>A)
c.3754G>A (p.Ala1252Thr)
c.3766G>A (p.Ala1256Thr)
c.3739G>A (p.Ala1247Thr)
c.3685G>A (p.Ala1229Thr)
c.3085G>A (p.Ala1029Thr)
c.4033G>A (p.Ala1345Thr)
c.4030G>A (p.Ala1344Thr)
c.3949G>A (p.Ala1317Thr)
c.3880G>A (p.Ala1294Thr)
c.3748G>A (p.Ala1250Thr)
c.3616G>A (p.Ala1206Thr)
 gnomAD v4
20g.32436481G>CCA408563768ASXL1c.3769G>C (p.Ala1257Pro)
c.3586G>C (p.Ala1196Pro)
n.6122G>C
c.1869+1900G>C (n.1869+1900G>C)
c.3754G>C (p.Ala1252Pro)
c.3766G>C (p.Ala1256Pro)
c.3739G>C (p.Ala1247Pro)
c.3685G>C (p.Ala1229Pro)
c.3085G>C (p.Ala1029Pro)
c.4033G>C (p.Ala1345Pro)
c.4030G>C (p.Ala1344Pro)
c.3949G>C (p.Ala1317Pro)
c.3880G>C (p.Ala1294Pro)
c.3748G>C (p.Ala1250Pro)
c.3616G>C (p.Ala1206Pro)
20g.32436481G>TCA408563769ASXL1c.3769G>T (p.Ala1257Ser)
c.3586G>T (p.Ala1196Ser)
n.6122G>T
c.1869+1900G>T (n.1869+1900G>T)
c.3754G>T (p.Ala1252Ser)
c.3766G>T (p.Ala1256Ser)
c.3739G>T (p.Ala1247Ser)
c.3685G>T (p.Ala1229Ser)
c.3085G>T (p.Ala1029Ser)
c.4033G>T (p.Ala1345Ser)
c.4030G>T (p.Ala1344Ser)
c.3949G>T (p.Ala1317Ser)
c.3880G>T (p.Ala1294Ser)
c.3748G>T (p.Ala1250Ser)
c.3616G>T (p.Ala1206Ser)
20g.32436482C>ACA408563770ASXL1c.3770C>A (p.Ala1257Asp)
c.3587C>A (p.Ala1196Asp)
n.6123C>A
c.1869+1901C>A (n.1869+1901C>A)
c.3755C>A (p.Ala1252Asp)
c.3767C>A (p.Ala1256Asp)
c.3740C>A (p.Ala1247Asp)
c.3686C>A (p.Ala1229Asp)
c.3086C>A (p.Ala1029Asp)
c.4034C>A (p.Ala1345Asp)
c.4031C>A (p.Ala1344Asp)
c.3950C>A (p.Ala1317Asp)
c.3881C>A (p.Ala1294Asp)
c.3749C>A (p.Ala1250Asp)
c.3617C>A (p.Ala1206Asp)
20g.32436482C=CA2360293725ASXL1c.3770C= (p.Ala1257=)
c.3587C= (p.Ala1196=)
n.6123C=
c.1869+1901C= (n.1869+1901C=)
c.3755C= (p.Ala1252=)
c.3767C= (p.Ala1256=)
c.3740C= (p.Ala1247=)
c.3686C= (p.Ala1229=)
c.3086C= (p.Ala1029=)
c.4034C= (p.Ala1345=)
c.4031C= (p.Ala1344=)
c.3950C= (p.Ala1317=)
c.3881C= (p.Ala1294=)
c.3749C= (p.Ala1250=)
c.3617C= (p.Ala1206=)
20g.32436482C>GCA408563772ASXL1c.3770C>G (p.Ala1257Gly)
c.3587C>G (p.Ala1196Gly)
n.6123C>G
c.1869+1901C>G (n.1869+1901C>G)
c.3755C>G (p.Ala1252Gly)
c.3767C>G (p.Ala1256Gly)
c.3740C>G (p.Ala1247Gly)
c.3686C>G (p.Ala1229Gly)
c.3086C>G (p.Ala1029Gly)
c.4034C>G (p.Ala1345Gly)
c.4031C>G (p.Ala1344Gly)
c.3950C>G (p.Ala1317Gly)
c.3881C>G (p.Ala1294Gly)
c.3749C>G (p.Ala1250Gly)
c.3617C>G (p.Ala1206Gly)
 gnomAD v4
20g.32436482C>TCA408563771ASXL1c.3770C>T (p.Ala1257Val)
c.3587C>T (p.Ala1196Val)
n.6123C>T
c.1869+1901C>T (n.1869+1901C>T)
c.3755C>T (p.Ala1252Val)
c.3767C>T (p.Ala1256Val)
c.3740C>T (p.Ala1247Val)
c.3686C>T (p.Ala1229Val)
c.3086C>T (p.Ala1029Val)
c.4034C>T (p.Ala1345Val)
c.4031C>T (p.Ala1344Val)
c.3950C>T (p.Ala1317Val)
c.3881C>T (p.Ala1294Val)
c.3749C>T (p.Ala1250Val)
c.3617C>T (p.Ala1206Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436483T>ACA510467659ASXL1c.3771T>A (p.Ala1257=)
c.3588T>A (p.Ala1196=)
n.6124T>A
c.1869+1902T>A (n.1869+1902T>A)
c.3756T>A (p.Ala1252=)
c.3768T>A (p.Ala1256=)
c.3741T>A (p.Ala1247=)
c.3687T>A (p.Ala1229=)
c.3087T>A (p.Ala1029=)
c.4035T>A (p.Ala1345=)
c.4032T>A (p.Ala1344=)
c.3951T>A (p.Ala1317=)
c.3882T>A (p.Ala1294=)
c.3750T>A (p.Ala1250=)
c.3618T>A (p.Ala1206=)
20g.32436483T>CCA510467660ASXL1c.3771T>C (p.Ala1257=)
c.3588T>C (p.Ala1196=)
n.6124T>C
c.1869+1902T>C (n.1869+1902T>C)
c.3756T>C (p.Ala1252=)
c.3768T>C (p.Ala1256=)
c.3741T>C (p.Ala1247=)
c.3687T>C (p.Ala1229=)
c.3087T>C (p.Ala1029=)
c.4035T>C (p.Ala1345=)
c.4032T>C (p.Ala1344=)
c.3951T>C (p.Ala1317=)
c.3882T>C (p.Ala1294=)
c.3750T>C (p.Ala1250=)
c.3618T>C (p.Ala1206=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436483T>GCA510467661ASXL1c.3771T>G (p.Ala1257=)
c.3588T>G (p.Ala1196=)
n.6124T>G
c.1869+1902T>G (n.1869+1902T>G)
c.3756T>G (p.Ala1252=)
c.3768T>G (p.Ala1256=)
c.3741T>G (p.Ala1247=)
c.3687T>G (p.Ala1229=)
c.3087T>G (p.Ala1029=)
c.4035T>G (p.Ala1345=)
c.4032T>G (p.Ala1344=)
c.3951T>G (p.Ala1317=)
c.3882T>G (p.Ala1294=)
c.3750T>G (p.Ala1250=)
c.3618T>G (p.Ala1206=)
20g.32436483T=CA2360293727ASXL1c.3771T= (p.Ala1257=)
c.3588T= (p.Ala1196=)
n.6124T=
c.1869+1902T= (n.1869+1902T=)
c.3756T= (p.Ala1252=)
c.3768T= (p.Ala1256=)
c.3741T= (p.Ala1247=)
c.3687T= (p.Ala1229=)
c.3087T= (p.Ala1029=)
c.4035T= (p.Ala1345=)
c.4032T= (p.Ala1344=)
c.3951T= (p.Ala1317=)
c.3882T= (p.Ala1294=)
c.3750T= (p.Ala1250=)
c.3618T= (p.Ala1206=)
20g.32436483_32436484delinsTGCA2360293726ASXL1c.3771_3772delinsTG (p.Ala1257=)
c.3588_3589delinsTG (p.Ala1196=)
n.6124_6125delinsTG
c.1869+1902_1869+1903delinsTG (n.1869+1902_1869+1903delinsTG)
c.3756_3757delinsTG (p.Ala1252=)
c.3768_3769delinsTG (p.Ala1256=)
c.3741_3742delinsTG (p.Ala1247=)
c.3687_3688delinsTG (p.Ala1229=)
c.3087_3088delinsTG (p.Ala1029=)
c.4035_4036delinsTG (p.Ala1345=)
c.4032_4033delinsTG (p.Ala1344=)
c.3951_3952delinsTG (p.Ala1317=)
c.3882_3883delinsTG (p.Ala1294=)
c.3750_3751delinsTG (p.Ala1250=)
c.3618_3619delinsTG (p.Ala1206=)
20g.32436484delCA743615700ASXL1c.3772del (p.Ala1258LeufsTer22)
c.3589del (p.Ala1197LeufsTer22)
n.6125del
c.1869+1903del (n.1869+1903del)
c.3757del (p.Ala1253LeufsTer22)
c.3769del (p.Ala1257LeufsTer22)
c.3742del (p.Ala1248LeufsTer22)
c.3688del (p.Ala1230LeufsTer22)
c.3088del (p.Ala1030LeufsTer22)
c.4036del (p.Ala1346LeufsTer22)
c.4033del (p.Ala1345LeufsTer22)
c.3952del (p.Ala1318LeufsTer22)
c.3883del (p.Ala1295LeufsTer22)
c.3751del (p.Ala1251LeufsTer22)
c.3619del (p.Ala1207LeufsTer22)
 dbSNP
20g.32436484G>ACA408563773ASXL1c.3772G>A (p.Ala1258Thr)
c.3589G>A (p.Ala1197Thr)
n.6125G>A
c.1869+1903G>A (n.1869+1903G>A)
c.3757G>A (p.Ala1253Thr)
c.3769G>A (p.Ala1257Thr)
c.3742G>A (p.Ala1248Thr)
c.3688G>A (p.Ala1230Thr)
c.3088G>A (p.Ala1030Thr)
c.4036G>A (p.Ala1346Thr)
c.4033G>A (p.Ala1345Thr)
c.3952G>A (p.Ala1318Thr)
c.3883G>A (p.Ala1295Thr)
c.3751G>A (p.Ala1251Thr)
c.3619G>A (p.Ala1207Thr)
 dbSNP gnomAD v4
20g.32436484G>CCA408563774ASXL1c.3772G>C (p.Ala1258Pro)
c.3589G>C (p.Ala1197Pro)
n.6125G>C
c.1869+1903G>C (n.1869+1903G>C)
c.3757G>C (p.Ala1253Pro)
c.3769G>C (p.Ala1257Pro)
c.3742G>C (p.Ala1248Pro)
c.3688G>C (p.Ala1230Pro)
c.3088G>C (p.Ala1030Pro)
c.4036G>C (p.Ala1346Pro)
c.4033G>C (p.Ala1345Pro)
c.3952G>C (p.Ala1318Pro)
c.3883G>C (p.Ala1295Pro)
c.3751G>C (p.Ala1251Pro)
c.3619G>C (p.Ala1207Pro)
20g.32436484G=CA2360293728ASXL1c.3772G= (p.Ala1258=)
c.3589G= (p.Ala1197=)
n.6125G=
c.1869+1903G= (n.1869+1903G=)
c.3757G= (p.Ala1253=)
c.3769G= (p.Ala1257=)
c.3742G= (p.Ala1248=)
c.3688G= (p.Ala1230=)
c.3088G= (p.Ala1030=)
c.4036G= (p.Ala1346=)
c.4033G= (p.Ala1345=)
c.3952G= (p.Ala1318=)
c.3883G= (p.Ala1295=)
c.3751G= (p.Ala1251=)
c.3619G= (p.Ala1207=)
20g.32436484G>TCA313926360ASXL1c.3772G>T (p.Ala1258Ser)
c.3589G>T (p.Ala1197Ser)
n.6125G>T
c.1869+1903G>T (n.1869+1903G>T)
c.3757G>T (p.Ala1253Ser)
c.3769G>T (p.Ala1257Ser)
c.3742G>T (p.Ala1248Ser)
c.3688G>T (p.Ala1230Ser)
c.3088G>T (p.Ala1030Ser)
c.4036G>T (p.Ala1346Ser)
c.4033G>T (p.Ala1345Ser)
c.3952G>T (p.Ala1318Ser)
c.3883G>T (p.Ala1295Ser)
c.3751G>T (p.Ala1251Ser)
c.3619G>T (p.Ala1207Ser)
 dbSNP
20g.32436485C>ACA408563775ASXL1c.3773C>A (p.Ala1258Asp)
c.3590C>A (p.Ala1197Asp)
n.6126C>A
c.1869+1904C>A (n.1869+1904C>A)
c.3758C>A (p.Ala1253Asp)
c.3770C>A (p.Ala1257Asp)
c.3743C>A (p.Ala1248Asp)
c.3689C>A (p.Ala1230Asp)
c.3089C>A (p.Ala1030Asp)
c.4037C>A (p.Ala1346Asp)
c.4034C>A (p.Ala1345Asp)
c.3953C>A (p.Ala1318Asp)
c.3884C>A (p.Ala1295Asp)
c.3752C>A (p.Ala1251Asp)
c.3620C>A (p.Ala1207Asp)
20g.32436485C=CA2360293729ASXL1c.3773C= (p.Ala1258=)
c.3590C= (p.Ala1197=)
n.6126C=
c.1869+1904C= (n.1869+1904C=)
c.3758C= (p.Ala1253=)
c.3770C= (p.Ala1257=)
c.3743C= (p.Ala1248=)
c.3689C= (p.Ala1230=)
c.3089C= (p.Ala1030=)
c.4037C= (p.Ala1346=)
c.4034C= (p.Ala1345=)
c.3953C= (p.Ala1318=)
c.3884C= (p.Ala1295=)
c.3752C= (p.Ala1251=)
c.3620C= (p.Ala1207=)
20g.32436485C>GCA408563776ASXL1c.3773C>G (p.Ala1258Gly)
c.3590C>G (p.Ala1197Gly)
n.6126C>G
c.1869+1904C>G (n.1869+1904C>G)
c.3758C>G (p.Ala1253Gly)
c.3770C>G (p.Ala1257Gly)
c.3743C>G (p.Ala1248Gly)
c.3689C>G (p.Ala1230Gly)
c.3089C>G (p.Ala1030Gly)
c.4037C>G (p.Ala1346Gly)
c.4034C>G (p.Ala1345Gly)
c.3953C>G (p.Ala1318Gly)
c.3884C>G (p.Ala1295Gly)
c.3752C>G (p.Ala1251Gly)
c.3620C>G (p.Ala1207Gly)
20g.32436485C>TCA313926361ASXL1c.3773C>T (p.Ala1258Val)
c.3590C>T (p.Ala1197Val)
n.6126C>T
c.1869+1904C>T (n.1869+1904C>T)
c.3758C>T (p.Ala1253Val)
c.3770C>T (p.Ala1257Val)
c.3743C>T (p.Ala1248Val)
c.3689C>T (p.Ala1230Val)
c.3089C>T (p.Ala1030Val)
c.4037C>T (p.Ala1346Val)
c.4034C>T (p.Ala1345Val)
c.3953C>T (p.Ala1318Val)
c.3884C>T (p.Ala1295Val)
c.3752C>T (p.Ala1251Val)
c.3620C>T (p.Ala1207Val)
 dbSNP gnomAD v2 gnomAD v4
20g.32436486T>ACA510467665ASXL1c.3774T>A (p.Ala1258=)
c.3591T>A (p.Ala1197=)
n.6127T>A
c.1869+1905T>A (n.1869+1905T>A)
c.3759T>A (p.Ala1253=)
c.3771T>A (p.Ala1257=)
c.3744T>A (p.Ala1248=)
c.3690T>A (p.Ala1230=)
c.3090T>A (p.Ala1030=)
c.4038T>A (p.Ala1346=)
c.4035T>A (p.Ala1345=)
c.3954T>A (p.Ala1318=)
c.3885T>A (p.Ala1295=)
c.3753T>A (p.Ala1251=)
c.3621T>A (p.Ala1207=)
 dbSNP
20g.32436486T>CCA510467666ASXL1c.3774T>C (p.Ala1258=)
c.3591T>C (p.Ala1197=)
n.6127T>C
c.1869+1905T>C (n.1869+1905T>C)
c.3759T>C (p.Ala1253=)
c.3771T>C (p.Ala1257=)
c.3744T>C (p.Ala1248=)
c.3690T>C (p.Ala1230=)
c.3090T>C (p.Ala1030=)
c.4038T>C (p.Ala1346=)
c.4035T>C (p.Ala1345=)
c.3954T>C (p.Ala1318=)
c.3885T>C (p.Ala1295=)
c.3753T>C (p.Ala1251=)
c.3621T>C (p.Ala1207=)
20g.32436486T>GCA510467667ASXL1c.3774T>G (p.Ala1258=)
c.3591T>G (p.Ala1197=)
n.6127T>G
c.1869+1905T>G (n.1869+1905T>G)
c.3759T>G (p.Ala1253=)
c.3771T>G (p.Ala1257=)
c.3744T>G (p.Ala1248=)
c.3690T>G (p.Ala1230=)
c.3090T>G (p.Ala1030=)
c.4038T>G (p.Ala1346=)
c.4035T>G (p.Ala1345=)
c.3954T>G (p.Ala1318=)
c.3885T>G (p.Ala1295=)
c.3753T>G (p.Ala1251=)
c.3621T>G (p.Ala1207=)
20g.32436487C>ACA408563777ASXL1c.3775C>A (p.Pro1259Thr)
c.3592C>A (p.Pro1198Thr)
n.6128C>A
c.1869+1906C>A (n.1869+1906C>A)
c.3760C>A (p.Pro1254Thr)
c.3772C>A (p.Pro1258Thr)
c.3745C>A (p.Pro1249Thr)
c.3691C>A (p.Pro1231Thr)
c.3091C>A (p.Pro1031Thr)
c.4039C>A (p.Pro1347Thr)
c.4036C>A (p.Pro1346Thr)
c.3955C>A (p.Pro1319Thr)
c.3886C>A (p.Pro1296Thr)
c.3754C>A (p.Pro1252Thr)
c.3622C>A (p.Pro1208Thr)
20g.32436487C=CA2360293730ASXL1c.3775C= (p.Pro1259=)
c.3592C= (p.Pro1198=)
n.6128C=
c.1869+1906C= (n.1869+1906C=)
c.3760C= (p.Pro1254=)
c.3772C= (p.Pro1258=)
c.3745C= (p.Pro1249=)
c.3691C= (p.Pro1231=)
c.3091C= (p.Pro1031=)
c.4039C= (p.Pro1347=)
c.4036C= (p.Pro1346=)
c.3955C= (p.Pro1319=)
c.3886C= (p.Pro1296=)
c.3754C= (p.Pro1252=)
c.3622C= (p.Pro1208=)
20g.32436487C>GCA408563778ASXL1c.3775C>G (p.Pro1259Ala)
c.3592C>G (p.Pro1198Ala)
n.6128C>G
c.1869+1906C>G (n.1869+1906C>G)
c.3760C>G (p.Pro1254Ala)
c.3772C>G (p.Pro1258Ala)
c.3745C>G (p.Pro1249Ala)
c.3691C>G (p.Pro1231Ala)
c.3091C>G (p.Pro1031Ala)
c.4039C>G (p.Pro1347Ala)
c.4036C>G (p.Pro1346Ala)
c.3955C>G (p.Pro1319Ala)
c.3886C>G (p.Pro1296Ala)
c.3754C>G (p.Pro1252Ala)
c.3622C>G (p.Pro1208Ala)
20g.32436487C>TCA408563779ASXL1c.3775C>T (p.Pro1259Ser)
c.3592C>T (p.Pro1198Ser)
n.6128C>T
c.1869+1906C>T (n.1869+1906C>T)
c.3760C>T (p.Pro1254Ser)
c.3772C>T (p.Pro1258Ser)
c.3745C>T (p.Pro1249Ser)
c.3691C>T (p.Pro1231Ser)
c.3091C>T (p.Pro1031Ser)
c.4039C>T (p.Pro1347Ser)
c.4036C>T (p.Pro1346Ser)
c.3955C>T (p.Pro1319Ser)
c.3886C>T (p.Pro1296Ser)
c.3754C>T (p.Pro1252Ser)
c.3622C>T (p.Pro1208Ser)
 dbSNP gnomAD v4
20g.32436488C>ACA408563780ASXL1c.3776C>A (p.Pro1259Gln)
c.3593C>A (p.Pro1198Gln)
n.6129C>A
c.1869+1907C>A (n.1869+1907C>A)
c.3761C>A (p.Pro1254Gln)
c.3773C>A (p.Pro1258Gln)
c.3746C>A (p.Pro1249Gln)
c.3692C>A (p.Pro1231Gln)
c.3092C>A (p.Pro1031Gln)
c.4040C>A (p.Pro1347Gln)
c.4037C>A (p.Pro1346Gln)
c.3956C>A (p.Pro1319Gln)
c.3887C>A (p.Pro1296Gln)
c.3755C>A (p.Pro1252Gln)
c.3623C>A (p.Pro1208Gln)
20g.32436488C=CA2360293731ASXL1c.3776C= (p.Pro1259=)
c.3593C= (p.Pro1198=)
n.6129C=
c.1869+1907C= (n.1869+1907C=)
c.3761C= (p.Pro1254=)
c.3773C= (p.Pro1258=)
c.3746C= (p.Pro1249=)
c.3692C= (p.Pro1231=)
c.3092C= (p.Pro1031=)
c.4040C= (p.Pro1347=)
c.4037C= (p.Pro1346=)
c.3956C= (p.Pro1319=)
c.3887C= (p.Pro1296=)
c.3755C= (p.Pro1252=)
c.3623C= (p.Pro1208=)
20g.32436488C>GCA408563781ASXL1c.3776C>G (p.Pro1259Arg)
c.3593C>G (p.Pro1198Arg)
n.6129C>G
c.1869+1907C>G (n.1869+1907C>G)
c.3761C>G (p.Pro1254Arg)
c.3773C>G (p.Pro1258Arg)
c.3746C>G (p.Pro1249Arg)
c.3692C>G (p.Pro1231Arg)
c.3092C>G (p.Pro1031Arg)
c.4040C>G (p.Pro1347Arg)
c.4037C>G (p.Pro1346Arg)
c.3956C>G (p.Pro1319Arg)
c.3887C>G (p.Pro1296Arg)
c.3755C>G (p.Pro1252Arg)
c.3623C>G (p.Pro1208Arg)
20g.32436488C>TCA9808897ASXL1c.3776C>T (p.Pro1259Leu)
c.3593C>T (p.Pro1198Leu)
n.6129C>T
c.1869+1907C>T (n.1869+1907C>T)
c.3761C>T (p.Pro1254Leu)
c.3773C>T (p.Pro1258Leu)
c.3746C>T (p.Pro1249Leu)
c.3692C>T (p.Pro1231Leu)
c.3092C>T (p.Pro1031Leu)
c.4040C>T (p.Pro1347Leu)
c.4037C>T (p.Pro1346Leu)
c.3956C>T (p.Pro1319Leu)
c.3887C>T (p.Pro1296Leu)
c.3755C>T (p.Pro1252Leu)
c.3623C>T (p.Pro1208Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436489A>CCA510467670ASXL1c.3777A>C (p.Pro1259=)
c.3594A>C (p.Pro1198=)
n.6130A>C
c.1869+1908A>C (n.1869+1908A>C)
c.3762A>C (p.Pro1254=)
c.3774A>C (p.Pro1258=)
c.3747A>C (p.Pro1249=)
c.3693A>C (p.Pro1231=)
c.3093A>C (p.Pro1031=)
c.4041A>C (p.Pro1347=)
c.4038A>C (p.Pro1346=)
c.3957A>C (p.Pro1319=)
c.3888A>C (p.Pro1296=)
c.3756A>C (p.Pro1252=)
c.3624A>C (p.Pro1208=)
20g.32436489A>GCA510467671ASXL1c.3777A>G (p.Pro1259=)
c.3594A>G (p.Pro1198=)
n.6130A>G
c.1869+1908A>G (n.1869+1908A>G)
c.3762A>G (p.Pro1254=)
c.3774A>G (p.Pro1258=)
c.3747A>G (p.Pro1249=)
c.3693A>G (p.Pro1231=)
c.3093A>G (p.Pro1031=)
c.4041A>G (p.Pro1347=)
c.4038A>G (p.Pro1346=)
c.3957A>G (p.Pro1319=)
c.3888A>G (p.Pro1296=)
c.3756A>G (p.Pro1252=)
c.3624A>G (p.Pro1208=)
20g.32436489A>TCA510467672ASXL1c.3777A>T (p.Pro1259=)
c.3594A>T (p.Pro1198=)
n.6130A>T
c.1869+1908A>T (n.1869+1908A>T)
c.3762A>T (p.Pro1254=)
c.3774A>T (p.Pro1258=)
c.3747A>T (p.Pro1249=)
c.3693A>T (p.Pro1231=)
c.3093A>T (p.Pro1031=)
c.4041A>T (p.Pro1347=)
c.4038A>T (p.Pro1346=)
c.3957A>T (p.Pro1319=)
c.3888A>T (p.Pro1296=)
c.3756A>T (p.Pro1252=)
c.3624A>T (p.Pro1208=)
20g.32436490G>ACA408563784ASXL1c.3778G>A (p.Gly1260Arg)
c.3595G>A (p.Gly1199Arg)
n.6131G>A
c.1869+1909G>A (n.1869+1909G>A)
c.3763G>A (p.Gly1255Arg)
c.3775G>A (p.Gly1259Arg)
c.3748G>A (p.Gly1250Arg)
c.3694G>A (p.Gly1232Arg)
c.3094G>A (p.Gly1032Arg)
c.4042G>A (p.Gly1348Arg)
c.4039G>A (p.Gly1347Arg)
c.3958G>A (p.Gly1320Arg)
c.3889G>A (p.Gly1297Arg)
c.3757G>A (p.Gly1253Arg)
c.3625G>A (p.Gly1209Arg)
 gnomAD v4
20g.32436490G>CCA408563783ASXL1c.3778G>C (p.Gly1260Arg)
c.3595G>C (p.Gly1199Arg)
n.6131G>C
c.1869+1909G>C (n.1869+1909G>C)
c.3763G>C (p.Gly1255Arg)
c.3775G>C (p.Gly1259Arg)
c.3748G>C (p.Gly1250Arg)
c.3694G>C (p.Gly1232Arg)
c.3094G>C (p.Gly1032Arg)
c.4042G>C (p.Gly1348Arg)
c.4039G>C (p.Gly1347Arg)
c.3958G>C (p.Gly1320Arg)
c.3889G>C (p.Gly1297Arg)
c.3757G>C (p.Gly1253Arg)
c.3625G>C (p.Gly1209Arg)
20g.32436490G>TCA408563782ASXL1c.3778G>T (p.Gly1260Ter)
c.3595G>T (p.Gly1199Ter)
n.6131G>T
c.1869+1909G>T (n.1869+1909G>T)
c.3763G>T (p.Gly1255Ter)
c.3775G>T (p.Gly1259Ter)
c.3748G>T (p.Gly1250Ter)
c.3694G>T (p.Gly1232Ter)
c.3094G>T (p.Gly1032Ter)
c.4042G>T (p.Gly1348Ter)
c.4039G>T (p.Gly1347Ter)
c.3958G>T (p.Gly1320Ter)
c.3889G>T (p.Gly1297Ter)
c.3757G>T (p.Gly1253Ter)
c.3625G>T (p.Gly1209Ter)
20g.32436491G>ACA408563785ASXL1c.3779G>A (p.Gly1260Glu)
c.3596G>A (p.Gly1199Glu)
n.6132G>A
c.1869+1910G>A (n.1869+1910G>A)
c.3764G>A (p.Gly1255Glu)
c.3776G>A (p.Gly1259Glu)
c.3749G>A (p.Gly1250Glu)
c.3695G>A (p.Gly1232Glu)
c.3095G>A (p.Gly1032Glu)
c.4043G>A (p.Gly1348Glu)
c.4040G>A (p.Gly1347Glu)
c.3959G>A (p.Gly1320Glu)
c.3890G>A (p.Gly1297Glu)
c.3758G>A (p.Gly1253Glu)
c.3626G>A (p.Gly1209Glu)
20g.32436491G>CCA408563786ASXL1c.3779G>C (p.Gly1260Ala)
c.3596G>C (p.Gly1199Ala)
n.6132G>C
c.1869+1910G>C (n.1869+1910G>C)
c.3764G>C (p.Gly1255Ala)
c.3776G>C (p.Gly1259Ala)
c.3749G>C (p.Gly1250Ala)
c.3695G>C (p.Gly1232Ala)
c.3095G>C (p.Gly1032Ala)
c.4043G>C (p.Gly1348Ala)
c.4040G>C (p.Gly1347Ala)
c.3959G>C (p.Gly1320Ala)
c.3890G>C (p.Gly1297Ala)
c.3758G>C (p.Gly1253Ala)
c.3626G>C (p.Gly1209Ala)
 gnomAD v4 COSMIC
20g.32436491G>TCA408563787ASXL1c.3779G>T (p.Gly1260Val)
c.3596G>T (p.Gly1199Val)
n.6132G>T
c.1869+1910G>T (n.1869+1910G>T)
c.3764G>T (p.Gly1255Val)
c.3776G>T (p.Gly1259Val)
c.3749G>T (p.Gly1250Val)
c.3695G>T (p.Gly1232Val)
c.3095G>T (p.Gly1032Val)
c.4043G>T (p.Gly1348Val)
c.4040G>T (p.Gly1347Val)
c.3959G>T (p.Gly1320Val)
c.3890G>T (p.Gly1297Val)
c.3758G>T (p.Gly1253Val)
c.3626G>T (p.Gly1209Val)
 gnomAD v4
20g.32436492A=CA2360293732ASXL1c.3780A= (p.Gly1260=)
c.3597A= (p.Gly1199=)
n.6133A=
c.1869+1911A= (n.1869+1911A=)
c.3765A= (p.Gly1255=)
c.3777A= (p.Gly1259=)
c.3750A= (p.Gly1250=)
c.3696A= (p.Gly1232=)
c.3096A= (p.Gly1032=)
c.4044A= (p.Gly1348=)
c.4041A= (p.Gly1347=)
c.3960A= (p.Gly1320=)
c.3891A= (p.Gly1297=)
c.3759A= (p.Gly1253=)
c.3627A= (p.Gly1209=)
20g.32436492A>CCA9808898ASXL1c.3780A>C (p.Gly1260=)
c.3597A>C (p.Gly1199=)
n.6133A>C
c.1869+1911A>C (n.1869+1911A>C)
c.3765A>C (p.Gly1255=)
c.3777A>C (p.Gly1259=)
c.3750A>C (p.Gly1250=)
c.3696A>C (p.Gly1232=)
c.3096A>C (p.Gly1032=)
c.4044A>C (p.Gly1348=)
c.4041A>C (p.Gly1347=)
c.3960A>C (p.Gly1320=)
c.3891A>C (p.Gly1297=)
c.3759A>C (p.Gly1253=)
c.3627A>C (p.Gly1209=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436492A>GCA313926362ASXL1c.3780A>G (p.Gly1260=)
c.3597A>G (p.Gly1199=)
n.6133A>G
c.1869+1911A>G (n.1869+1911A>G)
c.3765A>G (p.Gly1255=)
c.3777A>G (p.Gly1259=)
c.3750A>G (p.Gly1250=)
c.3696A>G (p.Gly1232=)
c.3096A>G (p.Gly1032=)
c.4044A>G (p.Gly1348=)
c.4041A>G (p.Gly1347=)
c.3960A>G (p.Gly1320=)
c.3891A>G (p.Gly1297=)
c.3759A>G (p.Gly1253=)
c.3627A>G (p.Gly1209=)
 dbSNP gnomAD v2
20g.32436492A>TCA510467673ASXL1c.3780A>T (p.Gly1260=)
c.3597A>T (p.Gly1199=)
n.6133A>T
c.1869+1911A>T (n.1869+1911A>T)
c.3765A>T (p.Gly1255=)
c.3777A>T (p.Gly1259=)
c.3750A>T (p.Gly1250=)
c.3696A>T (p.Gly1232=)
c.3096A>T (p.Gly1032=)
c.4044A>T (p.Gly1348=)
c.4041A>T (p.Gly1347=)
c.3960A>T (p.Gly1320=)
c.3891A>T (p.Gly1297=)
c.3759A>T (p.Gly1253=)
c.3627A>T (p.Gly1209=)
 gnomAD v4
20g.32436493A=CA2360293733ASXL1c.3781A= (p.Lys1261=)
c.3598A= (p.Lys1200=)
n.6134A=
c.1869+1912A= (n.1869+1912A=)
c.3766A= (p.Lys1256=)
c.3778A= (p.Lys1260=)
c.3751A= (p.Lys1251=)
c.3697A= (p.Lys1233=)
c.3097A= (p.Lys1033=)
c.4045A= (p.Lys1349=)
c.4042A= (p.Lys1348=)
c.3961A= (p.Lys1321=)
c.3892A= (p.Lys1298=)
c.3760A= (p.Lys1254=)
c.3628A= (p.Lys1210=)
20g.32436493A>CCA408563788ASXL1c.3781A>C (p.Lys1261Gln)
c.3598A>C (p.Lys1200Gln)
n.6134A>C
c.1869+1912A>C (n.1869+1912A>C)
c.3766A>C (p.Lys1256Gln)
c.3778A>C (p.Lys1260Gln)
c.3751A>C (p.Lys1251Gln)
c.3697A>C (p.Lys1233Gln)
c.3097A>C (p.Lys1033Gln)
c.4045A>C (p.Lys1349Gln)
c.4042A>C (p.Lys1348Gln)
c.3961A>C (p.Lys1321Gln)
c.3892A>C (p.Lys1298Gln)
c.3760A>C (p.Lys1254Gln)
c.3628A>C (p.Lys1210Gln)
20g.32436493A>GCA408563789ASXL1c.3781A>G (p.Lys1261Glu)
c.3598A>G (p.Lys1200Glu)
n.6134A>G
c.1869+1912A>G (n.1869+1912A>G)
c.3766A>G (p.Lys1256Glu)
c.3778A>G (p.Lys1260Glu)
c.3751A>G (p.Lys1251Glu)
c.3697A>G (p.Lys1233Glu)
c.3097A>G (p.Lys1033Glu)
c.4045A>G (p.Lys1349Glu)
c.4042A>G (p.Lys1348Glu)
c.3961A>G (p.Lys1321Glu)
c.3892A>G (p.Lys1298Glu)
c.3760A>G (p.Lys1254Glu)
c.3628A>G (p.Lys1210Glu)
 dbSNP
20g.32436493A>TCA408563790ASXL1c.3781A>T (p.Lys1261Ter)
c.3598A>T (p.Lys1200Ter)
n.6134A>T
c.1869+1912A>T (n.1869+1912A>T)
c.3766A>T (p.Lys1256Ter)
c.3778A>T (p.Lys1260Ter)
c.3751A>T (p.Lys1251Ter)
c.3697A>T (p.Lys1233Ter)
c.3097A>T (p.Lys1033Ter)
c.4045A>T (p.Lys1349Ter)
c.4042A>T (p.Lys1348Ter)
c.3961A>T (p.Lys1321Ter)
c.3892A>T (p.Lys1298Ter)
c.3760A>T (p.Lys1254Ter)
c.3628A>T (p.Lys1210Ter)
20g.32436493_32436495delinsAAGCA2360293734ASXL1c.3781_3783delinsAAG (p.Lys1261=)
c.3598_3600delinsAAG (p.Lys1200=)
n.6134_6136delinsAAG
c.1869+1912_1869+1914delinsAAG (n.1869+1912_1869+1914delinsAAG)
c.3766_3768delinsAAG (p.Lys1256=)
c.3778_3780delinsAAG (p.Lys1260=)
c.3751_3753delinsAAG (p.Lys1251=)
c.3697_3699delinsAAG (p.Lys1233=)
c.3097_3099delinsAAG (p.Lys1033=)
c.4045_4047delinsAAG (p.Lys1349=)
c.4042_4044delinsAAG (p.Lys1348=)
c.3961_3963delinsAAG (p.Lys1321=)
c.3892_3894delinsAAG (p.Lys1298=)
c.3760_3762delinsAAG (p.Lys1254=)
c.3628_3630delinsAAG (p.Lys1210=)
20g.32436494A=CA2360293736ASXL1c.3782A= (p.Lys1261=)
c.3599A= (p.Lys1200=)
n.6135A=
c.1869+1913A= (n.1869+1913A=)
c.3767A= (p.Lys1256=)
c.3779A= (p.Lys1260=)
c.3752A= (p.Lys1251=)
c.3698A= (p.Lys1233=)
c.3098A= (p.Lys1033=)
c.4046A= (p.Lys1349=)
c.4043A= (p.Lys1348=)
c.3962A= (p.Lys1321=)
c.3893A= (p.Lys1298=)
c.3761A= (p.Lys1254=)
c.3629A= (p.Lys1210=)
20g.32436494A>CCA408563791ASXL1c.3782A>C (p.Lys1261Thr)
c.3599A>C (p.Lys1200Thr)
n.6135A>C
c.1869+1913A>C (n.1869+1913A>C)
c.3767A>C (p.Lys1256Thr)
c.3779A>C (p.Lys1260Thr)
c.3752A>C (p.Lys1251Thr)
c.3698A>C (p.Lys1233Thr)
c.3098A>C (p.Lys1033Thr)
c.4046A>C (p.Lys1349Thr)
c.4043A>C (p.Lys1348Thr)
c.3962A>C (p.Lys1321Thr)
c.3893A>C (p.Lys1298Thr)
c.3761A>C (p.Lys1254Thr)
c.3629A>C (p.Lys1210Thr)
20g.32436494A>GCA9808899ASXL1c.3782A>G (p.Lys1261Arg)
c.3599A>G (p.Lys1200Arg)
n.6135A>G
c.1869+1913A>G (n.1869+1913A>G)
c.3767A>G (p.Lys1256Arg)
c.3779A>G (p.Lys1260Arg)
c.3752A>G (p.Lys1251Arg)
c.3698A>G (p.Lys1233Arg)
c.3098A>G (p.Lys1033Arg)
c.4046A>G (p.Lys1349Arg)
c.4043A>G (p.Lys1348Arg)
c.3962A>G (p.Lys1321Arg)
c.3893A>G (p.Lys1298Arg)
c.3761A>G (p.Lys1254Arg)
c.3629A>G (p.Lys1210Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436494A>TCA408563792ASXL1c.3782A>T (p.Lys1261Met)
c.3599A>T (p.Lys1200Met)
n.6135A>T
c.1869+1913A>T (n.1869+1913A>T)
c.3767A>T (p.Lys1256Met)
c.3779A>T (p.Lys1260Met)
c.3752A>T (p.Lys1251Met)
c.3698A>T (p.Lys1233Met)
c.3098A>T (p.Lys1033Met)
c.4046A>T (p.Lys1349Met)
c.4043A>T (p.Lys1348Met)
c.3962A>T (p.Lys1321Met)
c.3893A>T (p.Lys1298Met)
c.3761A>T (p.Lys1254Met)
c.3629A>T (p.Lys1210Met)
20g.32436496_32436497delCA2360293735ASXL1c.3784_3785del (p.Ser1262ProfsTer?)
c.3601_3602del (p.Ser1201ProfsTer?)
n.6137_6138del
c.1869+1915_1869+1916del (n.1869+1915_1869+1916del)
c.3769_3770del (p.Ser1257ProfsTer?)
c.3781_3782del (p.Ser1261ProfsTer?)
c.3754_3755del (p.Ser1252ProfsTer?)
c.3700_3701del (p.Ser1234ProfsTer?)
c.3100_3101del (p.Ser1034ProfsTer?)
c.4048_4049del (p.Ser1350ProfsTer?)
c.4045_4046del (p.Ser1349ProfsTer?)
c.3964_3965del (p.Ser1322ProfsTer?)
c.3895_3896del (p.Ser1299ProfsTer?)
c.3763_3764del (p.Ser1255ProfsTer?)
c.3631_3632del (p.Ser1211ProfsTer?)
 dbSNP
20g.32436495G>ACA510467677ASXL1c.3783G>A (p.Lys1261=)
c.3600G>A (p.Lys1200=)
n.6136G>A
c.1869+1914G>A (n.1869+1914G>A)
c.3768G>A (p.Lys1256=)
c.3780G>A (p.Lys1260=)
c.3753G>A (p.Lys1251=)
c.3699G>A (p.Lys1233=)
c.3099G>A (p.Lys1033=)
c.4047G>A (p.Lys1349=)
c.4044G>A (p.Lys1348=)
c.3963G>A (p.Lys1321=)
c.3894G>A (p.Lys1298=)
c.3762G>A (p.Lys1254=)
c.3630G>A (p.Lys1210=)
20g.32436495G>CCA408563793ASXL1c.3783G>C (p.Lys1261Asn)
c.3600G>C (p.Lys1200Asn)
n.6136G>C
c.1869+1914G>C (n.1869+1914G>C)
c.3768G>C (p.Lys1256Asn)
c.3780G>C (p.Lys1260Asn)
c.3753G>C (p.Lys1251Asn)
c.3699G>C (p.Lys1233Asn)
c.3099G>C (p.Lys1033Asn)
c.4047G>C (p.Lys1349Asn)
c.4044G>C (p.Lys1348Asn)
c.3963G>C (p.Lys1321Asn)
c.3894G>C (p.Lys1298Asn)
c.3762G>C (p.Lys1254Asn)
c.3630G>C (p.Lys1210Asn)
 gnomAD v4
20g.32436495G>TCA408563794ASXL1c.3783G>T (p.Lys1261Asn)
c.3600G>T (p.Lys1200Asn)
n.6136G>T
c.1869+1914G>T (n.1869+1914G>T)
c.3768G>T (p.Lys1256Asn)
c.3780G>T (p.Lys1260Asn)
c.3753G>T (p.Lys1251Asn)
c.3699G>T (p.Lys1233Asn)
c.3099G>T (p.Lys1033Asn)
c.4047G>T (p.Lys1349Asn)
c.4044G>T (p.Lys1348Asn)
c.3963G>T (p.Lys1321Asn)
c.3894G>T (p.Lys1298Asn)
c.3762G>T (p.Lys1254Asn)
c.3630G>T (p.Lys1210Asn)
20g.32436496A>CCA408563795ASXL1c.3784A>C (p.Ser1262Arg)
c.3601A>C (p.Ser1201Arg)
n.6137A>C
c.1869+1915A>C (n.1869+1915A>C)
c.3769A>C (p.Ser1257Arg)
c.3781A>C (p.Ser1261Arg)
c.3754A>C (p.Ser1252Arg)
c.3700A>C (p.Ser1234Arg)
c.3100A>C (p.Ser1034Arg)
c.4048A>C (p.Ser1350Arg)
c.4045A>C (p.Ser1349Arg)
c.3964A>C (p.Ser1322Arg)
c.3895A>C (p.Ser1299Arg)
c.3763A>C (p.Ser1255Arg)
c.3631A>C (p.Ser1211Arg)
20g.32436496A>GCA408563797ASXL1c.3784A>G (p.Ser1262Gly)
c.3601A>G (p.Ser1201Gly)
n.6137A>G
c.1869+1915A>G (n.1869+1915A>G)
c.3769A>G (p.Ser1257Gly)
c.3781A>G (p.Ser1261Gly)
c.3754A>G (p.Ser1252Gly)
c.3700A>G (p.Ser1234Gly)
c.3100A>G (p.Ser1034Gly)
c.4048A>G (p.Ser1350Gly)
c.4045A>G (p.Ser1349Gly)
c.3964A>G (p.Ser1322Gly)
c.3895A>G (p.Ser1299Gly)
c.3763A>G (p.Ser1255Gly)
c.3631A>G (p.Ser1211Gly)
20g.32436496A>TCA408563796ASXL1c.3784A>T (p.Ser1262Cys)
c.3601A>T (p.Ser1201Cys)
n.6137A>T
c.1869+1915A>T (n.1869+1915A>T)
c.3769A>T (p.Ser1257Cys)
c.3781A>T (p.Ser1261Cys)
c.3754A>T (p.Ser1252Cys)
c.3700A>T (p.Ser1234Cys)
c.3100A>T (p.Ser1034Cys)
c.4048A>T (p.Ser1350Cys)
c.4045A>T (p.Ser1349Cys)
c.3964A>T (p.Ser1322Cys)
c.3895A>T (p.Ser1299Cys)
c.3763A>T (p.Ser1255Cys)
c.3631A>T (p.Ser1211Cys)
20g.32436497G>ACA408563798ASXL1c.3785G>A (p.Ser1262Asn)
c.3602G>A (p.Ser1201Asn)
n.6138G>A
c.1869+1916G>A (n.1869+1916G>A)
c.3770G>A (p.Ser1257Asn)
c.3782G>A (p.Ser1261Asn)
c.3755G>A (p.Ser1252Asn)
c.3701G>A (p.Ser1234Asn)
c.3101G>A (p.Ser1034Asn)
c.4049G>A (p.Ser1350Asn)
c.4046G>A (p.Ser1349Asn)
c.3965G>A (p.Ser1322Asn)
c.3896G>A (p.Ser1299Asn)
c.3764G>A (p.Ser1255Asn)
c.3632G>A (p.Ser1211Asn)
20g.32436497G>CCA408563800ASXL1c.3785G>C (p.Ser1262Thr)
c.3602G>C (p.Ser1201Thr)
n.6138G>C
c.1869+1916G>C (n.1869+1916G>C)
c.3770G>C (p.Ser1257Thr)
c.3782G>C (p.Ser1261Thr)
c.3755G>C (p.Ser1252Thr)
c.3701G>C (p.Ser1234Thr)
c.3101G>C (p.Ser1034Thr)
c.4049G>C (p.Ser1350Thr)
c.4046G>C (p.Ser1349Thr)
c.3965G>C (p.Ser1322Thr)
c.3896G>C (p.Ser1299Thr)
c.3764G>C (p.Ser1255Thr)
c.3632G>C (p.Ser1211Thr)
 dbSNP gnomAD v4
20g.32436497G=CA2360293737ASXL1c.3785G= (p.Ser1262=)
c.3602G= (p.Ser1201=)
n.6138G=
c.1869+1916G= (n.1869+1916G=)
c.3770G= (p.Ser1257=)
c.3782G= (p.Ser1261=)
c.3755G= (p.Ser1252=)
c.3701G= (p.Ser1234=)
c.3101G= (p.Ser1034=)
c.4049G= (p.Ser1350=)
c.4046G= (p.Ser1349=)
c.3965G= (p.Ser1322=)
c.3896G= (p.Ser1299=)
c.3764G= (p.Ser1255=)
c.3632G= (p.Ser1211=)
20g.32436497G>TCA408563799ASXL1c.3785G>T (p.Ser1262Ile)
c.3602G>T (p.Ser1201Ile)
n.6138G>T
c.1869+1916G>T (n.1869+1916G>T)
c.3770G>T (p.Ser1257Ile)
c.3782G>T (p.Ser1261Ile)
c.3755G>T (p.Ser1252Ile)
c.3701G>T (p.Ser1234Ile)
c.3101G>T (p.Ser1034Ile)
c.4049G>T (p.Ser1350Ile)
c.4046G>T (p.Ser1349Ile)
c.3965G>T (p.Ser1322Ile)
c.3896G>T (p.Ser1299Ile)
c.3764G>T (p.Ser1255Ile)
c.3632G>T (p.Ser1211Ile)
 ClinVar dbSNP gnomAD v4
20g.32436498C>ACA408563801ASXL1c.3786C>A (p.Ser1262Arg)
c.3603C>A (p.Ser1201Arg)
n.6139C>A
c.1869+1917C>A (n.1869+1917C>A)
c.3771C>A (p.Ser1257Arg)
c.3783C>A (p.Ser1261Arg)
c.3756C>A (p.Ser1252Arg)
c.3702C>A (p.Ser1234Arg)
c.3102C>A (p.Ser1034Arg)
c.4050C>A (p.Ser1350Arg)
c.4047C>A (p.Ser1349Arg)
c.3966C>A (p.Ser1322Arg)
c.3897C>A (p.Ser1299Arg)
c.3765C>A (p.Ser1255Arg)
c.3633C>A (p.Ser1211Arg)
20g.32436498C=CA2360293738ASXL1c.3786C= (p.Ser1262=)
c.3603C= (p.Ser1201=)
n.6139C=
c.1869+1917C= (n.1869+1917C=)
c.3771C= (p.Ser1257=)
c.3783C= (p.Ser1261=)
c.3756C= (p.Ser1252=)
c.3702C= (p.Ser1234=)
c.3102C= (p.Ser1034=)
c.4050C= (p.Ser1350=)
c.4047C= (p.Ser1349=)
c.3966C= (p.Ser1322=)
c.3897C= (p.Ser1299=)
c.3765C= (p.Ser1255=)
c.3633C= (p.Ser1211=)
20g.32436498C>GCA408563802ASXL1c.3786C>G (p.Ser1262Arg)
c.3603C>G (p.Ser1201Arg)
n.6139C>G
c.1869+1917C>G (n.1869+1917C>G)
c.3771C>G (p.Ser1257Arg)
c.3783C>G (p.Ser1261Arg)
c.3756C>G (p.Ser1252Arg)
c.3702C>G (p.Ser1234Arg)
c.3102C>G (p.Ser1034Arg)
c.4050C>G (p.Ser1350Arg)
c.4047C>G (p.Ser1349Arg)
c.3966C>G (p.Ser1322Arg)
c.3897C>G (p.Ser1299Arg)
c.3765C>G (p.Ser1255Arg)
c.3633C>G (p.Ser1211Arg)
 dbSNP
20g.32436498C>TCA9808900ASXL1c.3786C>T (p.Ser1262=)
c.3603C>T (p.Ser1201=)
n.6139C>T
c.1869+1917C>T (n.1869+1917C>T)
c.3771C>T (p.Ser1257=)
c.3783C>T (p.Ser1261=)
c.3756C>T (p.Ser1252=)
c.3702C>T (p.Ser1234=)
c.3102C>T (p.Ser1034=)
c.4050C>T (p.Ser1350=)
c.4047C>T (p.Ser1349=)
c.3966C>T (p.Ser1322=)
c.3897C>T (p.Ser1299=)
c.3765C>T (p.Ser1255=)
c.3633C>T (p.Ser1211=)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.32436500delCA510467680ASXL1c.3788del (p.Pro1263GlnfsTer17)
c.3605del (p.Pro1202GlnfsTer17)
n.6141del
c.1869+1919del (n.1869+1919del)
c.3773del (p.Pro1258GlnfsTer17)
c.3785del (p.Pro1262GlnfsTer17)
c.3758del (p.Pro1253GlnfsTer17)
c.3704del (p.Pro1235GlnfsTer17)
c.3104del (p.Pro1035GlnfsTer17)
c.4052del (p.Pro1351GlnfsTer17)
c.4049del (p.Pro1350GlnfsTer17)
c.3968del (p.Pro1323GlnfsTer17)
c.3899del (p.Pro1300GlnfsTer17)
c.3767del (p.Pro1256GlnfsTer17)
c.3635del (p.Pro1212GlnfsTer17)
 COSMIC
20g.32436499C>ACA408563803ASXL1c.3787C>A (p.Pro1263Thr)
c.3604C>A (p.Pro1202Thr)
n.6140C>A
c.1869+1918C>A (n.1869+1918C>A)
c.3772C>A (p.Pro1258Thr)
c.3784C>A (p.Pro1262Thr)
c.3757C>A (p.Pro1253Thr)
c.3703C>A (p.Pro1235Thr)
c.3103C>A (p.Pro1035Thr)
c.4051C>A (p.Pro1351Thr)
c.4048C>A (p.Pro1350Thr)
c.3967C>A (p.Pro1323Thr)
c.3898C>A (p.Pro1300Thr)
c.3766C>A (p.Pro1256Thr)
c.3634C>A (p.Pro1212Thr)
20g.32436499C>GCA408563804ASXL1c.3787C>G (p.Pro1263Ala)
c.3604C>G (p.Pro1202Ala)
n.6140C>G
c.1869+1918C>G (n.1869+1918C>G)
c.3772C>G (p.Pro1258Ala)
c.3784C>G (p.Pro1262Ala)
c.3757C>G (p.Pro1253Ala)
c.3703C>G (p.Pro1235Ala)
c.3103C>G (p.Pro1035Ala)
c.4051C>G (p.Pro1351Ala)
c.4048C>G (p.Pro1350Ala)
c.3967C>G (p.Pro1323Ala)
c.3898C>G (p.Pro1300Ala)
c.3766C>G (p.Pro1256Ala)
c.3634C>G (p.Pro1212Ala)
20g.32436499C>TCA408563805ASXL1c.3787C>T (p.Pro1263Ser)
c.3604C>T (p.Pro1202Ser)
n.6140C>T
c.1869+1918C>T (n.1869+1918C>T)
c.3772C>T (p.Pro1258Ser)
c.3784C>T (p.Pro1262Ser)
c.3757C>T (p.Pro1253Ser)
c.3703C>T (p.Pro1235Ser)
c.3103C>T (p.Pro1035Ser)
c.4051C>T (p.Pro1351Ser)
c.4048C>T (p.Pro1350Ser)
c.3967C>T (p.Pro1323Ser)
c.3898C>T (p.Pro1300Ser)
c.3766C>T (p.Pro1256Ser)
c.3634C>T (p.Pro1212Ser)
20g.32436500C>ACA408563806ASXL1c.3788C>A (p.Pro1263Gln)
c.3605C>A (p.Pro1202Gln)
n.6141C>A
c.1869+1919C>A (n.1869+1919C>A)
c.3773C>A (p.Pro1258Gln)
c.3785C>A (p.Pro1262Gln)
c.3758C>A (p.Pro1253Gln)
c.3704C>A (p.Pro1235Gln)
c.3104C>A (p.Pro1035Gln)
c.4052C>A (p.Pro1351Gln)
c.4049C>A (p.Pro1350Gln)
c.3968C>A (p.Pro1323Gln)
c.3899C>A (p.Pro1300Gln)
c.3767C>A (p.Pro1256Gln)
c.3635C>A (p.Pro1212Gln)
20g.32436500C>GCA408563807ASXL1c.3788C>G (p.Pro1263Arg)
c.3605C>G (p.Pro1202Arg)
n.6141C>G
c.1869+1919C>G (n.1869+1919C>G)
c.3773C>G (p.Pro1258Arg)
c.3785C>G (p.Pro1262Arg)
c.3758C>G (p.Pro1253Arg)
c.3704C>G (p.Pro1235Arg)
c.3104C>G (p.Pro1035Arg)
c.4052C>G (p.Pro1351Arg)
c.4049C>G (p.Pro1350Arg)
c.3968C>G (p.Pro1323Arg)
c.3899C>G (p.Pro1300Arg)
c.3767C>G (p.Pro1256Arg)
c.3635C>G (p.Pro1212Arg)
 gnomAD v4
20g.32436500C>TCA408563808ASXL1c.3788C>T (p.Pro1263Leu)
c.3605C>T (p.Pro1202Leu)
n.6141C>T
c.1869+1919C>T (n.1869+1919C>T)
c.3773C>T (p.Pro1258Leu)
c.3785C>T (p.Pro1262Leu)
c.3758C>T (p.Pro1253Leu)
c.3704C>T (p.Pro1235Leu)
c.3104C>T (p.Pro1035Leu)
c.4052C>T (p.Pro1351Leu)
c.4049C>T (p.Pro1350Leu)
c.3968C>T (p.Pro1323Leu)
c.3899C>T (p.Pro1300Leu)
c.3767C>T (p.Pro1256Leu)
c.3635C>T (p.Pro1212Leu)
 dbSNP
20g.32436500_32436503delinsCAGGCA2360293739ASXL1c.3788_3791delinsCAGG (p.Pro1263=)
c.3605_3608delinsCAGG (p.Pro1202=)
n.6141_6144delinsCAGG
c.1869+1919_1869+1922delinsCAGG (n.1869+1919_1869+1922delinsCAGG)
c.3773_3776delinsCAGG (p.Pro1258=)
c.3785_3788delinsCAGG (p.Pro1262=)
c.3758_3761delinsCAGG (p.Pro1253=)
c.3704_3707delinsCAGG (p.Pro1235=)
c.3104_3107delinsCAGG (p.Pro1035=)
c.4052_4055delinsCAGG (p.Pro1351=)
c.4049_4052delinsCAGG (p.Pro1350=)
c.3968_3971delinsCAGG (p.Pro1323=)
c.3899_3902delinsCAGG (p.Pro1300=)
c.3767_3770delinsCAGG (p.Pro1256=)
c.3635_3638delinsCAGG (p.Pro1212=)
20g.32436501A=CA2360293740ASXL1c.3789A= (p.Pro1263=)
c.3606A= (p.Pro1202=)
n.6142A=
c.1869+1920A= (n.1869+1920A=)
c.3774A= (p.Pro1258=)
c.3786A= (p.Pro1262=)
c.3759A= (p.Pro1253=)
c.3705A= (p.Pro1235=)
c.3105A= (p.Pro1035=)
c.4053A= (p.Pro1351=)
c.4050A= (p.Pro1350=)
c.3969A= (p.Pro1323=)
c.3900A= (p.Pro1300=)
c.3768A= (p.Pro1256=)
c.3636A= (p.Pro1212=)
20g.32436501A>CCA510467681ASXL1c.3789A>C (p.Pro1263=)
c.3606A>C (p.Pro1202=)
n.6142A>C
c.1869+1920A>C (n.1869+1920A>C)
c.3774A>C (p.Pro1258=)
c.3786A>C (p.Pro1262=)
c.3759A>C (p.Pro1253=)
c.3705A>C (p.Pro1235=)
c.3105A>C (p.Pro1035=)
c.4053A>C (p.Pro1351=)
c.4050A>C (p.Pro1350=)
c.3969A>C (p.Pro1323=)
c.3900A>C (p.Pro1300=)
c.3768A>C (p.Pro1256=)
c.3636A>C (p.Pro1212=)
20g.32436501A>GCA9808901ASXL1c.3789A>G (p.Pro1263=)
c.3606A>G (p.Pro1202=)
n.6142A>G
c.1869+1920A>G (n.1869+1920A>G)
c.3774A>G (p.Pro1258=)
c.3786A>G (p.Pro1262=)
c.3759A>G (p.Pro1253=)
c.3705A>G (p.Pro1235=)
c.3105A>G (p.Pro1035=)
c.4053A>G (p.Pro1351=)
c.4050A>G (p.Pro1350=)
c.3969A>G (p.Pro1323=)
c.3900A>G (p.Pro1300=)
c.3768A>G (p.Pro1256=)
c.3636A>G (p.Pro1212=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436501A>TCA510467683ASXL1c.3789A>T (p.Pro1263=)
c.3606A>T (p.Pro1202=)
n.6142A>T
c.1869+1920A>T (n.1869+1920A>T)
c.3774A>T (p.Pro1258=)
c.3786A>T (p.Pro1262=)
c.3759A>T (p.Pro1253=)
c.3705A>T (p.Pro1235=)
c.3105A>T (p.Pro1035=)
c.4053A>T (p.Pro1351=)
c.4050A>T (p.Pro1350=)
c.3969A>T (p.Pro1323=)
c.3900A>T (p.Pro1300=)
c.3768A>T (p.Pro1256=)
c.3636A>T (p.Pro1212=)
20g.32436503_32436505delCA313926363ASXL1c.3791_3793del (p.Gly1264del)
c.3608_3610del (p.Gly1203del)
n.6144_6146del
c.1869+1922_1870-1925del (n.1869+1922_1870-1925del)
c.3776_3778del (p.Gly1259del)
c.3788_3790del (p.Gly1263del)
c.3761_3763del (p.Gly1254del)
c.3707_3709del (p.Gly1236del)
c.3107_3109del (p.Gly1036del)
c.4055_4057del (p.Gly1352del)
c.4052_4054del (p.Gly1351del)
c.3971_3973del (p.Gly1324del)
c.3902_3904del (p.Gly1301del)
c.3770_3772del (p.Gly1257del)
c.3638_3640del (p.Gly1213del)
 dbSNP
20g.32436502G>ACA9808902ASXL1c.3790G>A (p.Gly1264Arg)
c.3607G>A (p.Gly1203Arg)
n.6143G>A
c.1869+1921G>A (n.1869+1921G>A)
c.3775G>A (p.Gly1259Arg)
c.3787G>A (p.Gly1263Arg)
c.3760G>A (p.Gly1254Arg)
c.3706G>A (p.Gly1236Arg)
c.3106G>A (p.Gly1036Arg)
c.4054G>A (p.Gly1352Arg)
c.4051G>A (p.Gly1351Arg)
c.3970G>A (p.Gly1324Arg)
c.3901G>A (p.Gly1301Arg)
c.3769G>A (p.Gly1257Arg)
c.3637G>A (p.Gly1213Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436502G>CCA408563810ASXL1c.3790G>C (p.Gly1264Arg)
c.3607G>C (p.Gly1203Arg)
n.6143G>C
c.1869+1921G>C (n.1869+1921G>C)
c.3775G>C (p.Gly1259Arg)
c.3787G>C (p.Gly1263Arg)
c.3760G>C (p.Gly1254Arg)
c.3706G>C (p.Gly1236Arg)
c.3106G>C (p.Gly1036Arg)
c.4054G>C (p.Gly1352Arg)
c.4051G>C (p.Gly1351Arg)
c.3970G>C (p.Gly1324Arg)
c.3901G>C (p.Gly1301Arg)
c.3769G>C (p.Gly1257Arg)
c.3637G>C (p.Gly1213Arg)
20g.32436502G=CA2360293741ASXL1c.3790G= (p.Gly1264=)
c.3607G= (p.Gly1203=)
n.6143G=
c.1869+1921G= (n.1869+1921G=)
c.3775G= (p.Gly1259=)
c.3787G= (p.Gly1263=)
c.3760G= (p.Gly1254=)
c.3706G= (p.Gly1236=)
c.3106G= (p.Gly1036=)
c.4054G= (p.Gly1352=)
c.4051G= (p.Gly1351=)
c.3970G= (p.Gly1324=)
c.3901G= (p.Gly1301=)
c.3769G= (p.Gly1257=)
c.3637G= (p.Gly1213=)
20g.32436502G>TCA408563809ASXL1c.3790G>T (p.Gly1264Ter)
c.3607G>T (p.Gly1203Ter)
n.6143G>T
c.1869+1921G>T (n.1869+1921G>T)
c.3775G>T (p.Gly1259Ter)
c.3787G>T (p.Gly1263Ter)
c.3760G>T (p.Gly1254Ter)
c.3706G>T (p.Gly1236Ter)
c.3106G>T (p.Gly1036Ter)
c.4054G>T (p.Gly1352Ter)
c.4051G>T (p.Gly1351Ter)
c.3970G>T (p.Gly1324Ter)
c.3901G>T (p.Gly1301Ter)
c.3769G>T (p.Gly1257Ter)
c.3637G>T (p.Gly1213Ter)
20g.32436503delCA2577366322ASXL1c.3791del (p.Gly1264GlufsTer16)
c.3608del (p.Gly1203GlufsTer16)
n.6144del
c.1869+1922del (n.1869+1922del)
c.3776del (p.Gly1259GlufsTer16)
c.3788del (p.Gly1263GlufsTer16)
c.3761del (p.Gly1254GlufsTer16)
c.3707del (p.Gly1236GlufsTer16)
c.3107del (p.Gly1036GlufsTer16)
c.4055del (p.Gly1352GlufsTer16)
c.4052del (p.Gly1351GlufsTer16)
c.3971del (p.Gly1324GlufsTer16)
c.3902del (p.Gly1301GlufsTer16)
c.3770del (p.Gly1257GlufsTer16)
c.3638del (p.Gly1213GlufsTer16)
20g.32436503G>ACA408563811ASXL1c.3791G>A (p.Gly1264Glu)
c.3608G>A (p.Gly1203Glu)
n.6144G>A
c.1869+1922G>A (n.1869+1922G>A)
c.3776G>A (p.Gly1259Glu)
c.3788G>A (p.Gly1263Glu)
c.3761G>A (p.Gly1254Glu)
c.3707G>A (p.Gly1236Glu)
c.3107G>A (p.Gly1036Glu)
c.4055G>A (p.Gly1352Glu)
c.4052G>A (p.Gly1351Glu)
c.3971G>A (p.Gly1324Glu)
c.3902G>A (p.Gly1301Glu)
c.3770G>A (p.Gly1257Glu)
c.3638G>A (p.Gly1213Glu)
20g.32436503G>CCA408563812ASXL1c.3791G>C (p.Gly1264Ala)
c.3608G>C (p.Gly1203Ala)
n.6144G>C
c.1869+1922G>C (n.1869+1922G>C)
c.3776G>C (p.Gly1259Ala)
c.3788G>C (p.Gly1263Ala)
c.3761G>C (p.Gly1254Ala)
c.3707G>C (p.Gly1236Ala)
c.3107G>C (p.Gly1036Ala)
c.4055G>C (p.Gly1352Ala)
c.4052G>C (p.Gly1351Ala)
c.3971G>C (p.Gly1324Ala)
c.3902G>C (p.Gly1301Ala)
c.3770G>C (p.Gly1257Ala)
c.3638G>C (p.Gly1213Ala)
 dbSNP
20g.32436503G>TCA408563813ASXL1c.3791G>T (p.Gly1264Val)
c.3608G>T (p.Gly1203Val)
n.6144G>T
c.1869+1922G>T (n.1869+1922G>T)
c.3776G>T (p.Gly1259Val)
c.3788G>T (p.Gly1263Val)
c.3761G>T (p.Gly1254Val)
c.3707G>T (p.Gly1236Val)
c.3107G>T (p.Gly1036Val)
c.4055G>T (p.Gly1352Val)
c.4052G>T (p.Gly1351Val)
c.3971G>T (p.Gly1324Val)
c.3902G>T (p.Gly1301Val)
c.3770G>T (p.Gly1257Val)
c.3638G>T (p.Gly1213Val)
20g.32436504A>CCA510467687ASXL1c.3792A>C (p.Gly1264=)
c.3609A>C (p.Gly1203=)
n.6145A>C
c.1869+1923A>C (n.1869+1923A>C)
c.3777A>C (p.Gly1259=)
c.3789A>C (p.Gly1263=)
c.3762A>C (p.Gly1254=)
c.3708A>C (p.Gly1236=)
c.3108A>C (p.Gly1036=)
c.4056A>C (p.Gly1352=)
c.4053A>C (p.Gly1351=)
c.3972A>C (p.Gly1324=)
c.3903A>C (p.Gly1301=)
c.3771A>C (p.Gly1257=)
c.3639A>C (p.Gly1213=)
20g.32436504A>GCA510467685ASXL1c.3792A>G (p.Gly1264=)
c.3609A>G (p.Gly1203=)
n.6145A>G
c.1869+1923A>G (n.1869+1923A>G)
c.3777A>G (p.Gly1259=)
c.3789A>G (p.Gly1263=)
c.3762A>G (p.Gly1254=)
c.3708A>G (p.Gly1236=)
c.3108A>G (p.Gly1036=)
c.4056A>G (p.Gly1352=)
c.4053A>G (p.Gly1351=)
c.3972A>G (p.Gly1324=)
c.3903A>G (p.Gly1301=)
c.3771A>G (p.Gly1257=)
c.3639A>G (p.Gly1213=)
20g.32436504A>TCA510467684ASXL1c.3792A>T (p.Gly1264=)
c.3609A>T (p.Gly1203=)
n.6145A>T
c.1869+1923A>T (n.1869+1923A>T)
c.3777A>T (p.Gly1259=)
c.3789A>T (p.Gly1263=)
c.3762A>T (p.Gly1254=)
c.3708A>T (p.Gly1236=)
c.3108A>T (p.Gly1036=)
c.4056A>T (p.Gly1352=)
c.4053A>T (p.Gly1351=)
c.3972A>T (p.Gly1324=)
c.3903A>T (p.Gly1301=)
c.3771A>T (p.Gly1257=)
c.3639A>T (p.Gly1213=)
20g.32436505G>ACA408563814ASXL1c.3793G>A (p.Asp1265Asn)
c.3610G>A (p.Asp1204Asn)
n.6146G>A
c.1870-1925G>A (n.1870-1925G>A)
c.3778G>A (p.Asp1260Asn)
c.3790G>A (p.Asp1264Asn)
c.3763G>A (p.Asp1255Asn)
c.3709G>A (p.Asp1237Asn)
c.3109G>A (p.Asp1037Asn)
c.4057G>A (p.Asp1353Asn)
c.4054G>A (p.Asp1352Asn)
c.3973G>A (p.Asp1325Asn)
c.3904G>A (p.Asp1302Asn)
c.3772G>A (p.Asp1258Asn)
c.3640G>A (p.Asp1214Asn)
 dbSNP
20g.32436505G>CCA408563815ASXL1c.3793G>C (p.Asp1265His)
c.3610G>C (p.Asp1204His)
n.6146G>C
c.1870-1925G>C (n.1870-1925G>C)
c.3778G>C (p.Asp1260His)
c.3790G>C (p.Asp1264His)
c.3763G>C (p.Asp1255His)
c.3709G>C (p.Asp1237His)
c.3109G>C (p.Asp1037His)
c.4057G>C (p.Asp1353His)
c.4054G>C (p.Asp1352His)
c.3973G>C (p.Asp1325His)
c.3904G>C (p.Asp1302His)
c.3772G>C (p.Asp1258His)
c.3640G>C (p.Asp1214His)
20g.32436505G=CA2360293742ASXL1c.3793G= (p.Asp1265=)
c.3610G= (p.Asp1204=)
n.6146G=
c.1870-1925G= (n.1870-1925G=)
c.3778G= (p.Asp1260=)
c.3790G= (p.Asp1264=)
c.3763G= (p.Asp1255=)
c.3709G= (p.Asp1237=)
c.3109G= (p.Asp1037=)
c.4057G= (p.Asp1353=)
c.4054G= (p.Asp1352=)
c.3973G= (p.Asp1325=)
c.3904G= (p.Asp1302=)
c.3772G= (p.Asp1258=)
c.3640G= (p.Asp1214=)
20g.32436505G>TCA9808903ASXL1c.3793G>T (p.Asp1265Tyr)
c.3610G>T (p.Asp1204Tyr)
n.6146G>T
c.1870-1925G>T (n.1870-1925G>T)
c.3778G>T (p.Asp1260Tyr)
c.3790G>T (p.Asp1264Tyr)
c.3763G>T (p.Asp1255Tyr)
c.3709G>T (p.Asp1237Tyr)
c.3109G>T (p.Asp1037Tyr)
c.4057G>T (p.Asp1353Tyr)
c.4054G>T (p.Asp1352Tyr)
c.3973G>T (p.Asp1325Tyr)
c.3904G>T (p.Asp1302Tyr)
c.3772G>T (p.Asp1258Tyr)
c.3640G>T (p.Asp1214Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436506A>CCA408563816ASXL1c.3794A>C (p.Asp1265Ala)
c.3611A>C (p.Asp1204Ala)
n.6147A>C
c.1870-1924A>C (n.1870-1924A>C)
c.3779A>C (p.Asp1260Ala)
c.3791A>C (p.Asp1264Ala)
c.3764A>C (p.Asp1255Ala)
c.3710A>C (p.Asp1237Ala)
c.3110A>C (p.Asp1037Ala)
c.4058A>C (p.Asp1353Ala)
c.4055A>C (p.Asp1352Ala)
c.3974A>C (p.Asp1325Ala)
c.3905A>C (p.Asp1302Ala)
c.3773A>C (p.Asp1258Ala)
c.3641A>C (p.Asp1214Ala)
20g.32436506A>GCA408563817ASXL1c.3794A>G (p.Asp1265Gly)
c.3611A>G (p.Asp1204Gly)
n.6147A>G
c.1870-1924A>G (n.1870-1924A>G)
c.3779A>G (p.Asp1260Gly)
c.3791A>G (p.Asp1264Gly)
c.3764A>G (p.Asp1255Gly)
c.3710A>G (p.Asp1237Gly)
c.3110A>G (p.Asp1037Gly)
c.4058A>G (p.Asp1353Gly)
c.4055A>G (p.Asp1352Gly)
c.3974A>G (p.Asp1325Gly)
c.3905A>G (p.Asp1302Gly)
c.3773A>G (p.Asp1258Gly)
c.3641A>G (p.Asp1214Gly)
 gnomAD v4
20g.32436506A>TCA408563818ASXL1c.3794A>T (p.Asp1265Val)
c.3611A>T (p.Asp1204Val)
n.6147A>T
c.1870-1924A>T (n.1870-1924A>T)
c.3779A>T (p.Asp1260Val)
c.3791A>T (p.Asp1264Val)
c.3764A>T (p.Asp1255Val)
c.3710A>T (p.Asp1237Val)
c.3110A>T (p.Asp1037Val)
c.4058A>T (p.Asp1353Val)
c.4055A>T (p.Asp1352Val)
c.3974A>T (p.Asp1325Val)
c.3905A>T (p.Asp1302Val)
c.3773A>T (p.Asp1258Val)
c.3641A>T (p.Asp1214Val)
20g.32436507T>ACA408563819ASXL1c.3795T>A (p.Asp1265Glu)
c.3612T>A (p.Asp1204Glu)
n.6148T>A
c.1870-1923T>A (n.1870-1923T>A)
c.3780T>A (p.Asp1260Glu)
c.3792T>A (p.Asp1264Glu)
c.3765T>A (p.Asp1255Glu)
c.3711T>A (p.Asp1237Glu)
c.3111T>A (p.Asp1037Glu)
c.4059T>A (p.Asp1353Glu)
c.4056T>A (p.Asp1352Glu)
c.3975T>A (p.Asp1325Glu)
c.3906T>A (p.Asp1302Glu)
c.3774T>A (p.Asp1258Glu)
c.3642T>A (p.Asp1214Glu)
20g.32436507T>CCA510467691ASXL1c.3795T>C (p.Asp1265=)
c.3612T>C (p.Asp1204=)
n.6148T>C
c.1870-1923T>C (n.1870-1923T>C)
c.3780T>C (p.Asp1260=)
c.3792T>C (p.Asp1264=)
c.3765T>C (p.Asp1255=)
c.3711T>C (p.Asp1237=)
c.3111T>C (p.Asp1037=)
c.4059T>C (p.Asp1353=)
c.4056T>C (p.Asp1352=)
c.3975T>C (p.Asp1325=)
c.3906T>C (p.Asp1302=)
c.3774T>C (p.Asp1258=)
c.3642T>C (p.Asp1214=)
20g.32436507T>GCA408563820ASXL1c.3795T>G (p.Asp1265Glu)
c.3612T>G (p.Asp1204Glu)
n.6148T>G
c.1870-1923T>G (n.1870-1923T>G)
c.3780T>G (p.Asp1260Glu)
c.3792T>G (p.Asp1264Glu)
c.3765T>G (p.Asp1255Glu)
c.3711T>G (p.Asp1237Glu)
c.3111T>G (p.Asp1037Glu)
c.4059T>G (p.Asp1353Glu)
c.4056T>G (p.Asp1352Glu)
c.3975T>G (p.Asp1325Glu)
c.3906T>G (p.Asp1302Glu)
c.3774T>G (p.Asp1258Glu)
c.3642T>G (p.Asp1214Glu)
20g.32436508C>ACA408563822ASXL1c.3796C>A (p.Leu1266Ile)
c.3613C>A (p.Leu1205Ile)
n.6149C>A
c.1870-1922C>A (n.1870-1922C>A)
c.3781C>A (p.Leu1261Ile)
c.3793C>A (p.Leu1265Ile)
c.3766C>A (p.Leu1256Ile)
c.3712C>A (p.Leu1238Ile)
c.3112C>A (p.Leu1038Ile)
c.4060C>A (p.Leu1354Ile)
c.4057C>A (p.Leu1353Ile)
c.3976C>A (p.Leu1326Ile)
c.3907C>A (p.Leu1303Ile)
c.3775C>A (p.Leu1259Ile)
c.3643C>A (p.Leu1215Ile)
 gnomAD v4
20g.32436508C=CA2360293743ASXL1c.3796C= (p.Leu1266=)
c.3613C= (p.Leu1205=)
n.6149C=
c.1870-1922C= (n.1870-1922C=)
c.3781C= (p.Leu1261=)
c.3793C= (p.Leu1265=)
c.3766C= (p.Leu1256=)
c.3712C= (p.Leu1238=)
c.3112C= (p.Leu1038=)
c.4060C= (p.Leu1354=)
c.4057C= (p.Leu1353=)
c.3976C= (p.Leu1326=)
c.3907C= (p.Leu1303=)
c.3775C= (p.Leu1259=)
c.3643C= (p.Leu1215=)
20g.32436508C>GCA9808904ASXL1c.3796C>G (p.Leu1266Val)
c.3613C>G (p.Leu1205Val)
n.6149C>G
c.1870-1922C>G (n.1870-1922C>G)
c.3781C>G (p.Leu1261Val)
c.3793C>G (p.Leu1265Val)
c.3766C>G (p.Leu1256Val)
c.3712C>G (p.Leu1238Val)
c.3112C>G (p.Leu1038Val)
c.4060C>G (p.Leu1354Val)
c.4057C>G (p.Leu1353Val)
c.3976C>G (p.Leu1326Val)
c.3907C>G (p.Leu1303Val)
c.3775C>G (p.Leu1259Val)
c.3643C>G (p.Leu1215Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436508C>TCA408563821ASXL1c.3796C>T (p.Leu1266Phe)
c.3613C>T (p.Leu1205Phe)
n.6149C>T
c.1870-1922C>T (n.1870-1922C>T)
c.3781C>T (p.Leu1261Phe)
c.3793C>T (p.Leu1265Phe)
c.3766C>T (p.Leu1256Phe)
c.3712C>T (p.Leu1238Phe)
c.3112C>T (p.Leu1038Phe)
c.4060C>T (p.Leu1354Phe)
c.4057C>T (p.Leu1353Phe)
c.3976C>T (p.Leu1326Phe)
c.3907C>T (p.Leu1303Phe)
c.3775C>T (p.Leu1259Phe)
c.3643C>T (p.Leu1215Phe)
 ClinVar
20g.32436509_32436524delCA645612971ASXL1c.3797_3812del (p.Leu1266HisfsTer9)
c.3614_3629del (p.Leu1205HisfsTer9)
n.6150_6165del
c.1870-1921_1870-1906del (n.1870-1921_1870-1906del)
c.3782_3797del (p.Leu1261HisfsTer9)
c.3794_3809del (p.Leu1265HisfsTer9)
c.3767_3782del (p.Leu1256HisfsTer9)
c.3713_3728del (p.Leu1238HisfsTer9)
c.3113_3128del (p.Leu1038HisfsTer9)
c.4061_4076del (p.Leu1354HisfsTer9)
c.4058_4073del (p.Leu1353HisfsTer9)
c.3977_3992del (p.Leu1326HisfsTer9)
c.3908_3923del (p.Leu1303HisfsTer9)
c.3776_3791del (p.Leu1259HisfsTer9)
c.3644_3659del (p.Leu1215HisfsTer9)
 COSMIC
20g.32436509T>ACA408563823ASXL1c.3797T>A (p.Leu1266His)
c.3614T>A (p.Leu1205His)
n.6150T>A
c.1870-1921T>A (n.1870-1921T>A)
c.3782T>A (p.Leu1261His)
c.3794T>A (p.Leu1265His)
c.3767T>A (p.Leu1256His)
c.3713T>A (p.Leu1238His)
c.3113T>A (p.Leu1038His)
c.4061T>A (p.Leu1354His)
c.4058T>A (p.Leu1353His)
c.3977T>A (p.Leu1326His)
c.3908T>A (p.Leu1303His)
c.3776T>A (p.Leu1259His)
c.3644T>A (p.Leu1215His)
20g.32436509T>CCA408563824ASXL1c.3797T>C (p.Leu1266Pro)
c.3614T>C (p.Leu1205Pro)
n.6150T>C
c.1870-1921T>C (n.1870-1921T>C)
c.3782T>C (p.Leu1261Pro)
c.3794T>C (p.Leu1265Pro)
c.3767T>C (p.Leu1256Pro)
c.3713T>C (p.Leu1238Pro)
c.3113T>C (p.Leu1038Pro)
c.4061T>C (p.Leu1354Pro)
c.4058T>C (p.Leu1353Pro)
c.3977T>C (p.Leu1326Pro)
c.3908T>C (p.Leu1303Pro)
c.3776T>C (p.Leu1259Pro)
c.3644T>C (p.Leu1215Pro)
20g.32436509T>GCA408563825ASXL1c.3797T>G (p.Leu1266Arg)
c.3614T>G (p.Leu1205Arg)
n.6150T>G
c.1870-1921T>G (n.1870-1921T>G)
c.3782T>G (p.Leu1261Arg)
c.3794T>G (p.Leu1265Arg)
c.3767T>G (p.Leu1256Arg)
c.3713T>G (p.Leu1238Arg)
c.3113T>G (p.Leu1038Arg)
c.4061T>G (p.Leu1354Arg)
c.4058T>G (p.Leu1353Arg)
c.3977T>G (p.Leu1326Arg)
c.3908T>G (p.Leu1303Arg)
c.3776T>G (p.Leu1259Arg)
c.3644T>G (p.Leu1215Arg)
20g.32436510delCA2652401247ASXL1c.3798del (p.Thr1267LeufsTer13)
c.3615del (p.Thr1206LeufsTer13)
n.6151del
c.1870-1920del (n.1870-1920del)
c.3783del (p.Thr1262LeufsTer13)
c.3795del (p.Thr1266LeufsTer13)
c.3768del (p.Thr1257LeufsTer13)
c.3714del (p.Thr1239LeufsTer13)
c.3114del (p.Thr1039LeufsTer13)
c.4062del (p.Thr1355LeufsTer13)
c.4059del (p.Thr1354LeufsTer13)
c.3978del (p.Thr1327LeufsTer13)
c.3909del (p.Thr1304LeufsTer13)
c.3777del (p.Thr1260LeufsTer13)
c.3645del (p.Thr1216LeufsTer13)
 gnomAD v4
20g.32436510T>ACA510467692ASXL1c.3798T>A (p.Leu1266=)
c.3615T>A (p.Leu1205=)
n.6151T>A
c.1870-1920T>A (n.1870-1920T>A)
c.3783T>A (p.Leu1261=)
c.3795T>A (p.Leu1265=)
c.3768T>A (p.Leu1256=)
c.3714T>A (p.Leu1238=)
c.3114T>A (p.Leu1038=)
c.4062T>A (p.Leu1354=)
c.4059T>A (p.Leu1353=)
c.3978T>A (p.Leu1326=)
c.3909T>A (p.Leu1303=)
c.3777T>A (p.Leu1259=)
c.3645T>A (p.Leu1215=)
20g.32436510T>CCA510467694ASXL1c.3798T>C (p.Leu1266=)
c.3615T>C (p.Leu1205=)
n.6151T>C
c.1870-1920T>C (n.1870-1920T>C)
c.3783T>C (p.Leu1261=)
c.3795T>C (p.Leu1265=)
c.3768T>C (p.Leu1256=)
c.3714T>C (p.Leu1238=)
c.3114T>C (p.Leu1038=)
c.4062T>C (p.Leu1354=)
c.4059T>C (p.Leu1353=)
c.3978T>C (p.Leu1326=)
c.3909T>C (p.Leu1303=)
c.3777T>C (p.Leu1259=)
c.3645T>C (p.Leu1215=)
20g.32436510T>GCA510467693ASXL1c.3798T>G (p.Leu1266=)
c.3615T>G (p.Leu1205=)
n.6151T>G
c.1870-1920T>G (n.1870-1920T>G)
c.3783T>G (p.Leu1261=)
c.3795T>G (p.Leu1265=)
c.3768T>G (p.Leu1256=)
c.3714T>G (p.Leu1238=)
c.3114T>G (p.Leu1038=)
c.4062T>G (p.Leu1354=)
c.4059T>G (p.Leu1353=)
c.3978T>G (p.Leu1326=)
c.3909T>G (p.Leu1303=)
c.3777T>G (p.Leu1259=)
c.3645T>G (p.Leu1215=)
20g.32436510T=CA2360293744ASXL1c.3798T= (p.Leu1266=)
c.3615T= (p.Leu1205=)
n.6151T=
c.1870-1920T= (n.1870-1920T=)
c.3783T= (p.Leu1261=)
c.3795T= (p.Leu1265=)
c.3768T= (p.Leu1256=)
c.3714T= (p.Leu1238=)
c.3114T= (p.Leu1038=)
c.4062T= (p.Leu1354=)
c.4059T= (p.Leu1353=)
c.3978T= (p.Leu1326=)
c.3909T= (p.Leu1303=)
c.3777T= (p.Leu1259=)
c.3645T= (p.Leu1215=)
20g.32436511A>CCA408563826ASXL1c.3799A>C (p.Thr1267Pro)
c.3616A>C (p.Thr1206Pro)
n.6152A>C
c.1870-1919A>C (n.1870-1919A>C)
c.3784A>C (p.Thr1262Pro)
c.3796A>C (p.Thr1266Pro)
c.3769A>C (p.Thr1257Pro)
c.3715A>C (p.Thr1239Pro)
c.3115A>C (p.Thr1039Pro)
c.4063A>C (p.Thr1355Pro)
c.4060A>C (p.Thr1354Pro)
c.3979A>C (p.Thr1327Pro)
c.3910A>C (p.Thr1304Pro)
c.3778A>C (p.Thr1260Pro)
c.3646A>C (p.Thr1216Pro)
20g.32436511A>GCA408563827ASXL1c.3799A>G (p.Thr1267Ala)
c.3616A>G (p.Thr1206Ala)
n.6152A>G
c.1870-1919A>G (n.1870-1919A>G)
c.3784A>G (p.Thr1262Ala)
c.3796A>G (p.Thr1266Ala)
c.3769A>G (p.Thr1257Ala)
c.3715A>G (p.Thr1239Ala)
c.3115A>G (p.Thr1039Ala)
c.4063A>G (p.Thr1355Ala)
c.4060A>G (p.Thr1354Ala)
c.3979A>G (p.Thr1327Ala)
c.3910A>G (p.Thr1304Ala)
c.3778A>G (p.Thr1260Ala)
c.3646A>G (p.Thr1216Ala)
20g.32436511A>TCA408563828ASXL1c.3799A>T (p.Thr1267Ser)
c.3616A>T (p.Thr1206Ser)
n.6152A>T
c.1870-1919A>T (n.1870-1919A>T)
c.3784A>T (p.Thr1262Ser)
c.3796A>T (p.Thr1266Ser)
c.3769A>T (p.Thr1257Ser)
c.3715A>T (p.Thr1239Ser)
c.3115A>T (p.Thr1039Ser)
c.4063A>T (p.Thr1355Ser)
c.4060A>T (p.Thr1354Ser)
c.3979A>T (p.Thr1327Ser)
c.3910A>T (p.Thr1304Ser)
c.3778A>T (p.Thr1260Ser)
c.3646A>T (p.Thr1216Ser)
20g.32436511dupCA743615750ASXL1c.3799dup (p.Thr1267AsnfsTer27)
c.3616dup (p.Thr1206AsnfsTer27)
n.6152dup
c.1870-1919dup (n.1870-1919dup)
c.3784dup (p.Thr1262AsnfsTer27)
c.3796dup (p.Thr1266AsnfsTer27)
c.3769dup (p.Thr1257AsnfsTer27)
c.3715dup (p.Thr1239AsnfsTer27)
c.3115dup (p.Thr1039AsnfsTer27)
c.4063dup (p.Thr1355AsnfsTer27)
c.4060dup (p.Thr1354AsnfsTer27)
c.3979dup (p.Thr1327AsnfsTer27)
c.3910dup (p.Thr1304AsnfsTer27)
c.3778dup (p.Thr1260AsnfsTer27)
c.3646dup (p.Thr1216AsnfsTer27)
 dbSNP gnomAD v3 gnomAD v4
20g.32436512C>ACA9808905ASXL1c.3800C>A (p.Thr1267Asn)
c.3617C>A (p.Thr1206Asn)
n.6153C>A
c.1870-1918C>A (n.1870-1918C>A)
c.3785C>A (p.Thr1262Asn)
c.3797C>A (p.Thr1266Asn)
c.3770C>A (p.Thr1257Asn)
c.3716C>A (p.Thr1239Asn)
c.3116C>A (p.Thr1039Asn)
c.4064C>A (p.Thr1355Asn)
c.4061C>A (p.Thr1354Asn)
c.3980C>A (p.Thr1327Asn)
c.3911C>A (p.Thr1304Asn)
c.3779C>A (p.Thr1260Asn)
c.3647C>A (p.Thr1216Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436512C=CA2360293745ASXL1c.3800C= (p.Thr1267=)
c.3617C= (p.Thr1206=)
n.6153C=
c.1870-1918C= (n.1870-1918C=)
c.3785C= (p.Thr1262=)
c.3797C= (p.Thr1266=)
c.3770C= (p.Thr1257=)
c.3716C= (p.Thr1239=)
c.3116C= (p.Thr1039=)
c.4064C= (p.Thr1355=)
c.4061C= (p.Thr1354=)
c.3980C= (p.Thr1327=)
c.3911C= (p.Thr1304=)
c.3779C= (p.Thr1260=)
c.3647C= (p.Thr1216=)
20g.32436512C>GCA408563829ASXL1c.3800C>G (p.Thr1267Ser)
c.3617C>G (p.Thr1206Ser)
n.6153C>G
c.1870-1918C>G (n.1870-1918C>G)
c.3785C>G (p.Thr1262Ser)
c.3797C>G (p.Thr1266Ser)
c.3770C>G (p.Thr1257Ser)
c.3716C>G (p.Thr1239Ser)
c.3116C>G (p.Thr1039Ser)
c.4064C>G (p.Thr1355Ser)
c.4061C>G (p.Thr1354Ser)
c.3980C>G (p.Thr1327Ser)
c.3911C>G (p.Thr1304Ser)
c.3779C>G (p.Thr1260Ser)
c.3647C>G (p.Thr1216Ser)
20g.32436512C>TCA408563830ASXL1c.3800C>T (p.Thr1267Ile)
c.3617C>T (p.Thr1206Ile)
n.6153C>T
c.1870-1918C>T (n.1870-1918C>T)
c.3785C>T (p.Thr1262Ile)
c.3797C>T (p.Thr1266Ile)
c.3770C>T (p.Thr1257Ile)
c.3716C>T (p.Thr1239Ile)
c.3116C>T (p.Thr1039Ile)
c.4064C>T (p.Thr1355Ile)
c.4061C>T (p.Thr1354Ile)
c.3980C>T (p.Thr1327Ile)
c.3911C>T (p.Thr1304Ile)
c.3779C>T (p.Thr1260Ile)
c.3647C>T (p.Thr1216Ile)
20g.32436513T>ACA510467380ASXL1c.3801T>A (p.Thr1267=)
c.3618T>A (p.Thr1206=)
n.6154T>A
c.1870-1917T>A (n.1870-1917T>A)
c.3786T>A (p.Thr1262=)
c.3798T>A (p.Thr1266=)
c.3771T>A (p.Thr1257=)
c.3717T>A (p.Thr1239=)
c.3117T>A (p.Thr1039=)
c.4065T>A (p.Thr1355=)
c.4062T>A (p.Thr1354=)
c.3981T>A (p.Thr1327=)
c.3912T>A (p.Thr1304=)
c.3780T>A (p.Thr1260=)
c.3648T>A (p.Thr1216=)
20g.32436513T>CCA510467381ASXL1c.3801T>C (p.Thr1267=)
c.3618T>C (p.Thr1206=)
n.6154T>C
c.1870-1917T>C (n.1870-1917T>C)
c.3786T>C (p.Thr1262=)
c.3798T>C (p.Thr1266=)
c.3771T>C (p.Thr1257=)
c.3717T>C (p.Thr1239=)
c.3117T>C (p.Thr1039=)
c.4065T>C (p.Thr1355=)
c.4062T>C (p.Thr1354=)
c.3981T>C (p.Thr1327=)
c.3912T>C (p.Thr1304=)
c.3780T>C (p.Thr1260=)
c.3648T>C (p.Thr1216=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436513T>GCA510467383ASXL1c.3801T>G (p.Thr1267=)
c.3618T>G (p.Thr1206=)
n.6154T>G
c.1870-1917T>G (n.1870-1917T>G)
c.3786T>G (p.Thr1262=)
c.3798T>G (p.Thr1266=)
c.3771T>G (p.Thr1257=)
c.3717T>G (p.Thr1239=)
c.3117T>G (p.Thr1039=)
c.4065T>G (p.Thr1355=)
c.4062T>G (p.Thr1354=)
c.3981T>G (p.Thr1327=)
c.3912T>G (p.Thr1304=)
c.3780T>G (p.Thr1260=)
c.3648T>G (p.Thr1216=)
20g.32436513T=CA2360293746ASXL1c.3801T= (p.Thr1267=)
c.3618T= (p.Thr1206=)
n.6154T=
c.1870-1917T= (n.1870-1917T=)
c.3786T= (p.Thr1262=)
c.3798T= (p.Thr1266=)
c.3771T= (p.Thr1257=)
c.3717T= (p.Thr1239=)
c.3117T= (p.Thr1039=)
c.4065T= (p.Thr1355=)
c.4062T= (p.Thr1354=)
c.3981T= (p.Thr1327=)
c.3912T= (p.Thr1304=)
c.3780T= (p.Thr1260=)
c.3648T= (p.Thr1216=)
20g.32436514A>CCA408563831ASXL1c.3802A>C (p.Thr1268Pro)
c.3619A>C (p.Thr1207Pro)
n.6155A>C
c.1870-1916A>C (n.1870-1916A>C)
c.3787A>C (p.Thr1263Pro)
c.3799A>C (p.Thr1267Pro)
c.3772A>C (p.Thr1258Pro)
c.3718A>C (p.Thr1240Pro)
c.3118A>C (p.Thr1040Pro)
c.4066A>C (p.Thr1356Pro)
c.4063A>C (p.Thr1355Pro)
c.3982A>C (p.Thr1328Pro)
c.3913A>C (p.Thr1305Pro)
c.3781A>C (p.Thr1261Pro)
c.3649A>C (p.Thr1217Pro)
 dbSNP
20g.32436514A>GCA408563832ASXL1c.3802A>G (p.Thr1268Ala)
c.3619A>G (p.Thr1207Ala)
n.6155A>G
c.1870-1916A>G (n.1870-1916A>G)
c.3787A>G (p.Thr1263Ala)
c.3799A>G (p.Thr1267Ala)
c.3772A>G (p.Thr1258Ala)
c.3718A>G (p.Thr1240Ala)
c.3118A>G (p.Thr1040Ala)
c.4066A>G (p.Thr1356Ala)
c.4063A>G (p.Thr1355Ala)
c.3982A>G (p.Thr1328Ala)
c.3913A>G (p.Thr1305Ala)
c.3781A>G (p.Thr1261Ala)
c.3649A>G (p.Thr1217Ala)
20g.32436514A>TCA408563833ASXL1c.3802A>T (p.Thr1268Ser)
c.3619A>T (p.Thr1207Ser)
n.6155A>T
c.1870-1916A>T (n.1870-1916A>T)
c.3787A>T (p.Thr1263Ser)
c.3799A>T (p.Thr1267Ser)
c.3772A>T (p.Thr1258Ser)
c.3718A>T (p.Thr1240Ser)
c.3118A>T (p.Thr1040Ser)
c.4066A>T (p.Thr1356Ser)
c.4063A>T (p.Thr1355Ser)
c.3982A>T (p.Thr1328Ser)
c.3913A>T (p.Thr1305Ser)
c.3781A>T (p.Thr1261Ser)
c.3649A>T (p.Thr1217Ser)
20g.32436515C>ACA408563836ASXL1c.3803C>A (p.Thr1268Asn)
c.3620C>A (p.Thr1207Asn)
n.6156C>A
c.1870-1915C>A (n.1870-1915C>A)
c.3788C>A (p.Thr1263Asn)
c.3800C>A (p.Thr1267Asn)
c.3773C>A (p.Thr1258Asn)
c.3719C>A (p.Thr1240Asn)
c.3119C>A (p.Thr1040Asn)
c.4067C>A (p.Thr1356Asn)
c.4064C>A (p.Thr1355Asn)
c.3983C>A (p.Thr1328Asn)
c.3914C>A (p.Thr1305Asn)
c.3782C>A (p.Thr1261Asn)
c.3650C>A (p.Thr1217Asn)
20g.32436515C>GCA408563834ASXL1c.3803C>G (p.Thr1268Ser)
c.3620C>G (p.Thr1207Ser)
n.6156C>G
c.1870-1915C>G (n.1870-1915C>G)
c.3788C>G (p.Thr1263Ser)
c.3800C>G (p.Thr1267Ser)
c.3773C>G (p.Thr1258Ser)
c.3719C>G (p.Thr1240Ser)
c.3119C>G (p.Thr1040Ser)
c.4067C>G (p.Thr1356Ser)
c.4064C>G (p.Thr1355Ser)
c.3983C>G (p.Thr1328Ser)
c.3914C>G (p.Thr1305Ser)
c.3782C>G (p.Thr1261Ser)
c.3650C>G (p.Thr1217Ser)
20g.32436515C>TCA408563835ASXL1c.3803C>T (p.Thr1268Ile)
c.3620C>T (p.Thr1207Ile)
n.6156C>T
c.1870-1915C>T (n.1870-1915C>T)
c.3788C>T (p.Thr1263Ile)
c.3800C>T (p.Thr1267Ile)
c.3773C>T (p.Thr1258Ile)
c.3719C>T (p.Thr1240Ile)
c.3119C>T (p.Thr1040Ile)
c.4067C>T (p.Thr1356Ile)
c.4064C>T (p.Thr1355Ile)
c.3983C>T (p.Thr1328Ile)
c.3914C>T (p.Thr1305Ile)
c.3782C>T (p.Thr1261Ile)
c.3650C>T (p.Thr1217Ile)
 dbSNP
20g.32436516C>ACA510467386ASXL1c.3804C>A (p.Thr1268=)
c.3621C>A (p.Thr1207=)
n.6157C>A
c.1870-1914C>A (n.1870-1914C>A)
c.3789C>A (p.Thr1263=)
c.3801C>A (p.Thr1267=)
c.3774C>A (p.Thr1258=)
c.3720C>A (p.Thr1240=)
c.3120C>A (p.Thr1040=)
c.4068C>A (p.Thr1356=)
c.4065C>A (p.Thr1355=)
c.3984C>A (p.Thr1328=)
c.3915C>A (p.Thr1305=)
c.3783C>A (p.Thr1261=)
c.3651C>A (p.Thr1217=)
20g.32436516C>GCA510467388ASXL1c.3804C>G (p.Thr1268=)
c.3621C>G (p.Thr1207=)
n.6157C>G
c.1870-1914C>G (n.1870-1914C>G)
c.3789C>G (p.Thr1263=)
c.3801C>G (p.Thr1267=)
c.3774C>G (p.Thr1258=)
c.3720C>G (p.Thr1240=)
c.3120C>G (p.Thr1040=)
c.4068C>G (p.Thr1356=)
c.4065C>G (p.Thr1355=)
c.3984C>G (p.Thr1328=)
c.3915C>G (p.Thr1305=)
c.3783C>G (p.Thr1261=)
c.3651C>G (p.Thr1217=)
20g.32436516C>TCA510467390ASXL1c.3804C>T (p.Thr1268=)
c.3621C>T (p.Thr1207=)
n.6157C>T
c.1870-1914C>T (n.1870-1914C>T)
c.3789C>T (p.Thr1263=)
c.3801C>T (p.Thr1267=)
c.3774C>T (p.Thr1258=)
c.3720C>T (p.Thr1240=)
c.3120C>T (p.Thr1040=)
c.4068C>T (p.Thr1356=)
c.4065C>T (p.Thr1355=)
c.3984C>T (p.Thr1328=)
c.3915C>T (p.Thr1305=)
c.3783C>T (p.Thr1261=)
c.3651C>T (p.Thr1217=)
 gnomAD v4
20g.32436517T>ACA408563837ASXL1c.3805T>A (p.Ser1269Thr)
c.3622T>A (p.Ser1208Thr)
n.6158T>A
c.1870-1913T>A (n.1870-1913T>A)
c.3790T>A (p.Ser1264Thr)
c.3802T>A (p.Ser1268Thr)
c.3775T>A (p.Ser1259Thr)
c.3721T>A (p.Ser1241Thr)
c.3121T>A (p.Ser1041Thr)
c.4069T>A (p.Ser1357Thr)
c.4066T>A (p.Ser1356Thr)
c.3985T>A (p.Ser1329Thr)
c.3916T>A (p.Ser1306Thr)
c.3784T>A (p.Ser1262Thr)
c.3652T>A (p.Ser1218Thr)
20g.32436517T>CCA408563838ASXL1c.3805T>C (p.Ser1269Pro)
c.3622T>C (p.Ser1208Pro)
n.6158T>C
c.1870-1913T>C (n.1870-1913T>C)
c.3790T>C (p.Ser1264Pro)
c.3802T>C (p.Ser1268Pro)
c.3775T>C (p.Ser1259Pro)
c.3721T>C (p.Ser1241Pro)
c.3121T>C (p.Ser1041Pro)
c.4069T>C (p.Ser1357Pro)
c.4066T>C (p.Ser1356Pro)
c.3985T>C (p.Ser1329Pro)
c.3916T>C (p.Ser1306Pro)
c.3784T>C (p.Ser1262Pro)
c.3652T>C (p.Ser1218Pro)
20g.32436517T>GCA408563839ASXL1c.3805T>G (p.Ser1269Ala)
c.3622T>G (p.Ser1208Ala)
n.6158T>G
c.1870-1913T>G (n.1870-1913T>G)
c.3790T>G (p.Ser1264Ala)
c.3802T>G (p.Ser1268Ala)
c.3775T>G (p.Ser1259Ala)
c.3721T>G (p.Ser1241Ala)
c.3121T>G (p.Ser1041Ala)
c.4069T>G (p.Ser1357Ala)
c.4066T>G (p.Ser1356Ala)
c.3985T>G (p.Ser1329Ala)
c.3916T>G (p.Ser1306Ala)
c.3784T>G (p.Ser1262Ala)
c.3652T>G (p.Ser1218Ala)
20g.32436518C>ACA408563840ASXL1c.3806C>A (p.Ser1269Ter)
c.3623C>A (p.Ser1208Ter)
n.6159C>A
c.1870-1912C>A (n.1870-1912C>A)
c.3791C>A (p.Ser1264Ter)
c.3803C>A (p.Ser1268Ter)
c.3776C>A (p.Ser1259Ter)
c.3722C>A (p.Ser1241Ter)
c.3122C>A (p.Ser1041Ter)
c.4070C>A (p.Ser1357Ter)
c.4067C>A (p.Ser1356Ter)
c.3986C>A (p.Ser1329Ter)
c.3917C>A (p.Ser1306Ter)
c.3785C>A (p.Ser1262Ter)
c.3653C>A (p.Ser1218Ter)
 dbSNP
20g.32436518C=CA2360293747ASXL1c.3806C= (p.Ser1269=)
c.3623C= (p.Ser1208=)
n.6159C=
c.1870-1912C= (n.1870-1912C=)
c.3791C= (p.Ser1264=)
c.3803C= (p.Ser1268=)
c.3776C= (p.Ser1259=)
c.3722C= (p.Ser1241=)
c.3122C= (p.Ser1041=)
c.4070C= (p.Ser1357=)
c.4067C= (p.Ser1356=)
c.3986C= (p.Ser1329=)
c.3917C= (p.Ser1306=)
c.3785C= (p.Ser1262=)
c.3653C= (p.Ser1218=)
20g.32436518C>GCA408563841ASXL1c.3806C>G (p.Ser1269Trp)
c.3623C>G (p.Ser1208Trp)
n.6159C>G
c.1870-1912C>G (n.1870-1912C>G)
c.3791C>G (p.Ser1264Trp)
c.3803C>G (p.Ser1268Trp)
c.3776C>G (p.Ser1259Trp)
c.3722C>G (p.Ser1241Trp)
c.3122C>G (p.Ser1041Trp)
c.4070C>G (p.Ser1357Trp)
c.4067C>G (p.Ser1356Trp)
c.3986C>G (p.Ser1329Trp)
c.3917C>G (p.Ser1306Trp)
c.3785C>G (p.Ser1262Trp)
c.3653C>G (p.Ser1218Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32436518C>TCA9808906ASXL1c.3806C>T (p.Ser1269Leu)
c.3623C>T (p.Ser1208Leu)
n.6159C>T
c.1870-1912C>T (n.1870-1912C>T)
c.3791C>T (p.Ser1264Leu)
c.3803C>T (p.Ser1268Leu)
c.3776C>T (p.Ser1259Leu)
c.3722C>T (p.Ser1241Leu)
c.3122C>T (p.Ser1041Leu)
c.4070C>T (p.Ser1357Leu)
c.4067C>T (p.Ser1356Leu)
c.3986C>T (p.Ser1329Leu)
c.3917C>T (p.Ser1306Leu)
c.3785C>T (p.Ser1262Leu)
c.3653C>T (p.Ser1218Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436519G>ACA9808907ASXL1c.3807G>A (p.Ser1269=)
c.3624G>A (p.Ser1208=)
n.6160G>A
c.1870-1911G>A (n.1870-1911G>A)
c.3792G>A (p.Ser1264=)
c.3804G>A (p.Ser1268=)
c.3777G>A (p.Ser1259=)
c.3723G>A (p.Ser1241=)
c.3123G>A (p.Ser1041=)
c.4071G>A (p.Ser1357=)
c.4068G>A (p.Ser1356=)
c.3987G>A (p.Ser1329=)
c.3918G>A (p.Ser1306=)
c.3786G>A (p.Ser1262=)
c.3654G>A (p.Ser1218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436519G>CCA510467392ASXL1c.3807G>C (p.Ser1269=)
c.3624G>C (p.Ser1208=)
n.6160G>C
c.1870-1911G>C (n.1870-1911G>C)
c.3792G>C (p.Ser1264=)
c.3804G>C (p.Ser1268=)
c.3777G>C (p.Ser1259=)
c.3723G>C (p.Ser1241=)
c.3123G>C (p.Ser1041=)
c.4071G>C (p.Ser1357=)
c.4068G>C (p.Ser1356=)
c.3987G>C (p.Ser1329=)
c.3918G>C (p.Ser1306=)
c.3786G>C (p.Ser1262=)
c.3654G>C (p.Ser1218=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436519G=CA2360293748ASXL1c.3807G= (p.Ser1269=)
c.3624G= (p.Ser1208=)
n.6160G=
c.1870-1911G= (n.1870-1911G=)
c.3792G= (p.Ser1264=)
c.3804G= (p.Ser1268=)
c.3777G= (p.Ser1259=)
c.3723G= (p.Ser1241=)
c.3123G= (p.Ser1041=)
c.4071G= (p.Ser1357=)
c.4068G= (p.Ser1356=)
c.3987G= (p.Ser1329=)
c.3918G= (p.Ser1306=)
c.3786G= (p.Ser1262=)
c.3654G= (p.Ser1218=)
20g.32436519G>TCA510467394ASXL1c.3807G>T (p.Ser1269=)
c.3624G>T (p.Ser1208=)
n.6160G>T
c.1870-1911G>T (n.1870-1911G>T)
c.3792G>T (p.Ser1264=)
c.3804G>T (p.Ser1268=)
c.3777G>T (p.Ser1259=)
c.3723G>T (p.Ser1241=)
c.3123G>T (p.Ser1041=)
c.4071G>T (p.Ser1357=)
c.4068G>T (p.Ser1356=)
c.3987G>T (p.Ser1329=)
c.3918G>T (p.Ser1306=)
c.3786G>T (p.Ser1262=)
c.3654G>T (p.Ser1218=)
20g.32436520A=CA2360293749ASXL1c.3808A= (p.Arg1270=)
c.3625A= (p.Arg1209=)
n.6161A=
c.1870-1910A= (n.1870-1910A=)
c.3793A= (p.Arg1265=)
c.3805A= (p.Arg1269=)
c.3778A= (p.Arg1260=)
c.3724A= (p.Arg1242=)
c.3124A= (p.Arg1042=)
c.4072A= (p.Arg1358=)
c.4069A= (p.Arg1357=)
c.3988A= (p.Arg1330=)
c.3919A= (p.Arg1307=)
c.3787A= (p.Arg1263=)
c.3655A= (p.Arg1219=)
20g.32436520A>CCA510467395ASXL1c.3808A>C (p.Arg1270=)
c.3625A>C (p.Arg1209=)
n.6161A>C
c.1870-1910A>C (n.1870-1910A>C)
c.3793A>C (p.Arg1265=)
c.3805A>C (p.Arg1269=)
c.3778A>C (p.Arg1260=)
c.3724A>C (p.Arg1242=)
c.3124A>C (p.Arg1042=)
c.4072A>C (p.Arg1358=)
c.4069A>C (p.Arg1357=)
c.3988A>C (p.Arg1330=)
c.3919A>C (p.Arg1307=)
c.3787A>C (p.Arg1263=)
c.3655A>C (p.Arg1219=)
20g.32436520A>GCA9808908ASXL1c.3808A>G (p.Arg1270Gly)
c.3625A>G (p.Arg1209Gly)
n.6161A>G
c.1870-1910A>G (n.1870-1910A>G)
c.3793A>G (p.Arg1265Gly)
c.3805A>G (p.Arg1269Gly)
c.3778A>G (p.Arg1260Gly)
c.3724A>G (p.Arg1242Gly)
c.3124A>G (p.Arg1042Gly)
c.4072A>G (p.Arg1358Gly)
c.4069A>G (p.Arg1357Gly)
c.3988A>G (p.Arg1330Gly)
c.3919A>G (p.Arg1307Gly)
c.3787A>G (p.Arg1263Gly)
c.3655A>G (p.Arg1219Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436520A>TCA408563842ASXL1c.3808A>T (p.Arg1270Ter)
c.3625A>T (p.Arg1209Ter)
n.6161A>T
c.1870-1910A>T (n.1870-1910A>T)
c.3793A>T (p.Arg1265Ter)
c.3805A>T (p.Arg1269Ter)
c.3778A>T (p.Arg1260Ter)
c.3724A>T (p.Arg1242Ter)
c.3124A>T (p.Arg1042Ter)
c.4072A>T (p.Arg1358Ter)
c.4069A>T (p.Arg1357Ter)
c.3988A>T (p.Arg1330Ter)
c.3919A>T (p.Arg1307Ter)
c.3787A>T (p.Arg1263Ter)
c.3655A>T (p.Arg1219Ter)
20g.32436521G>ACA408563843ASXL1c.3809G>A (p.Arg1270Lys)
c.3626G>A (p.Arg1209Lys)
n.6162G>A
c.1870-1909G>A (n.1870-1909G>A)
c.3794G>A (p.Arg1265Lys)
c.3806G>A (p.Arg1269Lys)
c.3779G>A (p.Arg1260Lys)
c.3725G>A (p.Arg1242Lys)
c.3125G>A (p.Arg1042Lys)
c.4073G>A (p.Arg1358Lys)
c.4070G>A (p.Arg1357Lys)
c.3989G>A (p.Arg1330Lys)
c.3920G>A (p.Arg1307Lys)
c.3788G>A (p.Arg1263Lys)
c.3656G>A (p.Arg1219Lys)
 gnomAD v4
20g.32436521G>CCA408563844ASXL1c.3809G>C (p.Arg1270Thr)
c.3626G>C (p.Arg1209Thr)
n.6162G>C
c.1870-1909G>C (n.1870-1909G>C)
c.3794G>C (p.Arg1265Thr)
c.3806G>C (p.Arg1269Thr)
c.3779G>C (p.Arg1260Thr)
c.3725G>C (p.Arg1242Thr)
c.3125G>C (p.Arg1042Thr)
c.4073G>C (p.Arg1358Thr)
c.4070G>C (p.Arg1357Thr)
c.3989G>C (p.Arg1330Thr)
c.3920G>C (p.Arg1307Thr)
c.3788G>C (p.Arg1263Thr)
c.3656G>C (p.Arg1219Thr)
 dbSNP
20g.32436521G>TCA408563845ASXL1c.3809G>T (p.Arg1270Ile)
c.3626G>T (p.Arg1209Ile)
n.6162G>T
c.1870-1909G>T (n.1870-1909G>T)
c.3794G>T (p.Arg1265Ile)
c.3806G>T (p.Arg1269Ile)
c.3779G>T (p.Arg1260Ile)
c.3725G>T (p.Arg1242Ile)
c.3125G>T (p.Arg1042Ile)
c.4073G>T (p.Arg1358Ile)
c.4070G>T (p.Arg1357Ile)
c.3989G>T (p.Arg1330Ile)
c.3920G>T (p.Arg1307Ile)
c.3788G>T (p.Arg1263Ile)
c.3656G>T (p.Arg1219Ile)
20g.32436522A>CCA408563846ASXL1c.3810A>C (p.Arg1270Ser)
c.3627A>C (p.Arg1209Ser)
n.6163A>C
c.1870-1908A>C (n.1870-1908A>C)
c.3795A>C (p.Arg1265Ser)
c.3807A>C (p.Arg1269Ser)
c.3780A>C (p.Arg1260Ser)
c.3726A>C (p.Arg1242Ser)
c.3126A>C (p.Arg1042Ser)
c.4074A>C (p.Arg1358Ser)
c.4071A>C (p.Arg1357Ser)
c.3990A>C (p.Arg1330Ser)
c.3921A>C (p.Arg1307Ser)
c.3789A>C (p.Arg1263Ser)
c.3657A>C (p.Arg1219Ser)
20g.32436522A>GCA510467398ASXL1c.3810A>G (p.Arg1270=)
c.3627A>G (p.Arg1209=)
n.6163A>G
c.1870-1908A>G (n.1870-1908A>G)
c.3795A>G (p.Arg1265=)
c.3807A>G (p.Arg1269=)
c.3780A>G (p.Arg1260=)
c.3726A>G (p.Arg1242=)
c.3126A>G (p.Arg1042=)
c.4074A>G (p.Arg1358=)
c.4071A>G (p.Arg1357=)
c.3990A>G (p.Arg1330=)
c.3921A>G (p.Arg1307=)
c.3789A>G (p.Arg1263=)
c.3657A>G (p.Arg1219=)
20g.32436522A>TCA408563847ASXL1c.3810A>T (p.Arg1270Ser)
c.3627A>T (p.Arg1209Ser)
n.6163A>T
c.1870-1908A>T (n.1870-1908A>T)
c.3795A>T (p.Arg1265Ser)
c.3807A>T (p.Arg1269Ser)
c.3780A>T (p.Arg1260Ser)
c.3726A>T (p.Arg1242Ser)
c.3126A>T (p.Arg1042Ser)
c.4074A>T (p.Arg1358Ser)
c.4071A>T (p.Arg1357Ser)
c.3990A>T (p.Arg1330Ser)
c.3921A>T (p.Arg1307Ser)
c.3789A>T (p.Arg1263Ser)
c.3657A>T (p.Arg1219Ser)
20g.32436522_32436523dupCA645612972ASXL1c.3810_3811dup (p.Thr1271LysfsTer10)
c.3627_3628dup (p.Thr1210LysfsTer10)
n.6163_6164dup
c.1870-1908_1870-1907dup (n.1870-1908_1870-1907dup)
c.3795_3796dup (p.Thr1266LysfsTer10)
c.3807_3808dup (p.Thr1270LysfsTer10)
c.3780_3781dup (p.Thr1261LysfsTer10)
c.3726_3727dup (p.Thr1243LysfsTer10)
c.3126_3127dup (p.Thr1043LysfsTer10)
c.4074_4075dup (p.Thr1359LysfsTer10)
c.4071_4072dup (p.Thr1358LysfsTer10)
c.3990_3991dup (p.Thr1331LysfsTer10)
c.3921_3922dup (p.Thr1308LysfsTer10)
c.3789_3790dup (p.Thr1264LysfsTer10)
c.3657_3658dup (p.Thr1220LysfsTer10)
 COSMIC
20g.32436523A=CA2360293750ASXL1c.3811A= (p.Thr1271=)
c.3628A= (p.Thr1210=)
n.6164A=
c.1870-1907A= (n.1870-1907A=)
c.3796A= (p.Thr1266=)
c.3808A= (p.Thr1270=)
c.3781A= (p.Thr1261=)
c.3727A= (p.Thr1243=)
c.3127A= (p.Thr1043=)
c.4075A= (p.Thr1359=)
c.4072A= (p.Thr1358=)
c.3991A= (p.Thr1331=)
c.3922A= (p.Thr1308=)
c.3790A= (p.Thr1264=)
c.3658A= (p.Thr1220=)
20g.32436523A>CCA408563848ASXL1c.3811A>C (p.Thr1271Pro)
c.3628A>C (p.Thr1210Pro)
n.6164A>C
c.1870-1907A>C (n.1870-1907A>C)
c.3796A>C (p.Thr1266Pro)
c.3808A>C (p.Thr1270Pro)
c.3781A>C (p.Thr1261Pro)
c.3727A>C (p.Thr1243Pro)
c.3127A>C (p.Thr1043Pro)
c.4075A>C (p.Thr1359Pro)
c.4072A>C (p.Thr1358Pro)
c.3991A>C (p.Thr1331Pro)
c.3922A>C (p.Thr1308Pro)
c.3790A>C (p.Thr1264Pro)
c.3658A>C (p.Thr1220Pro)
20g.32436523A>GCA9808909ASXL1c.3811A>G (p.Thr1271Ala)
c.3628A>G (p.Thr1210Ala)
n.6164A>G
c.1870-1907A>G (n.1870-1907A>G)
c.3796A>G (p.Thr1266Ala)
c.3808A>G (p.Thr1270Ala)
c.3781A>G (p.Thr1261Ala)
c.3727A>G (p.Thr1243Ala)
c.3127A>G (p.Thr1043Ala)
c.4075A>G (p.Thr1359Ala)
c.4072A>G (p.Thr1358Ala)
c.3991A>G (p.Thr1331Ala)
c.3922A>G (p.Thr1308Ala)
c.3790A>G (p.Thr1264Ala)
c.3658A>G (p.Thr1220Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436523A>TCA408563849ASXL1c.3811A>T (p.Thr1271Ser)
c.3628A>T (p.Thr1210Ser)
n.6164A>T
c.1870-1907A>T (n.1870-1907A>T)
c.3796A>T (p.Thr1266Ser)
c.3808A>T (p.Thr1270Ser)
c.3781A>T (p.Thr1261Ser)
c.3727A>T (p.Thr1243Ser)
c.3127A>T (p.Thr1043Ser)
c.4075A>T (p.Thr1359Ser)
c.4072A>T (p.Thr1358Ser)
c.3991A>T (p.Thr1331Ser)
c.3922A>T (p.Thr1308Ser)
c.3790A>T (p.Thr1264Ser)
c.3658A>T (p.Thr1220Ser)
20g.32436524delCA2577366327ASXL1c.3812del (p.Thr1271AsnfsTer9)
c.3629del (p.Thr1210AsnfsTer9)
n.6165del
c.1870-1906del (n.1870-1906del)
c.3797del (p.Thr1266AsnfsTer9)
c.3809del (p.Thr1270AsnfsTer9)
c.3782del (p.Thr1261AsnfsTer9)
c.3728del (p.Thr1243AsnfsTer9)
c.3128del (p.Thr1043AsnfsTer9)
c.4076del (p.Thr1359AsnfsTer9)
c.4073del (p.Thr1358AsnfsTer9)
c.3992del (p.Thr1331AsnfsTer9)
c.3923del (p.Thr1308AsnfsTer9)
c.3791del (p.Thr1264AsnfsTer9)
c.3659del (p.Thr1220AsnfsTer9)
 gnomAD v4
20g.32436524C>ACA408563850ASXL1c.3812C>A (p.Thr1271Lys)
c.3629C>A (p.Thr1210Lys)
n.6165C>A
c.1870-1906C>A (n.1870-1906C>A)
c.3797C>A (p.Thr1266Lys)
c.3809C>A (p.Thr1270Lys)
c.3782C>A (p.Thr1261Lys)
c.3728C>A (p.Thr1243Lys)
c.3128C>A (p.Thr1043Lys)
c.4076C>A (p.Thr1359Lys)
c.4073C>A (p.Thr1358Lys)
c.3992C>A (p.Thr1331Lys)
c.3923C>A (p.Thr1308Lys)
c.3791C>A (p.Thr1264Lys)
c.3659C>A (p.Thr1220Lys)
20g.32436524C>GCA408563851ASXL1c.3812C>G (p.Thr1271Arg)
c.3629C>G (p.Thr1210Arg)
n.6165C>G
c.1870-1906C>G (n.1870-1906C>G)
c.3797C>G (p.Thr1266Arg)
c.3809C>G (p.Thr1270Arg)
c.3782C>G (p.Thr1261Arg)
c.3728C>G (p.Thr1243Arg)
c.3128C>G (p.Thr1043Arg)
c.4076C>G (p.Thr1359Arg)
c.4073C>G (p.Thr1358Arg)
c.3992C>G (p.Thr1331Arg)
c.3923C>G (p.Thr1308Arg)
c.3791C>G (p.Thr1264Arg)
c.3659C>G (p.Thr1220Arg)
20g.32436524C>TCA408563852ASXL1c.3812C>T (p.Thr1271Ile)
c.3629C>T (p.Thr1210Ile)
n.6165C>T
c.1870-1906C>T (n.1870-1906C>T)
c.3797C>T (p.Thr1266Ile)
c.3809C>T (p.Thr1270Ile)
c.3782C>T (p.Thr1261Ile)
c.3728C>T (p.Thr1243Ile)
c.3128C>T (p.Thr1043Ile)
c.4076C>T (p.Thr1359Ile)
c.4073C>T (p.Thr1358Ile)
c.3992C>T (p.Thr1331Ile)
c.3923C>T (p.Thr1308Ile)
c.3791C>T (p.Thr1264Ile)
c.3659C>T (p.Thr1220Ile)
 dbSNP
20g.32436525A>CCA510467401ASXL1c.3813A>C (p.Thr1271=)
c.3630A>C (p.Thr1210=)
n.6166A>C
c.1870-1905A>C (n.1870-1905A>C)
c.3798A>C (p.Thr1266=)
c.3810A>C (p.Thr1270=)
c.3783A>C (p.Thr1261=)
c.3729A>C (p.Thr1243=)
c.3129A>C (p.Thr1043=)
c.4077A>C (p.Thr1359=)
c.4074A>C (p.Thr1358=)
c.3993A>C (p.Thr1331=)
c.3924A>C (p.Thr1308=)
c.3792A>C (p.Thr1264=)
c.3660A>C (p.Thr1220=)
20g.32436525A>GCA510467403ASXL1c.3813A>G (p.Thr1271=)
c.3630A>G (p.Thr1210=)
n.6166A>G
c.1870-1905A>G (n.1870-1905A>G)
c.3798A>G (p.Thr1266=)
c.3810A>G (p.Thr1270=)
c.3783A>G (p.Thr1261=)
c.3729A>G (p.Thr1243=)
c.3129A>G (p.Thr1043=)
c.4077A>G (p.Thr1359=)
c.4074A>G (p.Thr1358=)
c.3993A>G (p.Thr1331=)
c.3924A>G (p.Thr1308=)
c.3792A>G (p.Thr1264=)
c.3660A>G (p.Thr1220=)
20g.32436525A>TCA510467404ASXL1c.3813A>T (p.Thr1271=)
c.3630A>T (p.Thr1210=)
n.6166A>T
c.1870-1905A>T (n.1870-1905A>T)
c.3798A>T (p.Thr1266=)
c.3810A>T (p.Thr1270=)
c.3783A>T (p.Thr1261=)
c.3729A>T (p.Thr1243=)
c.3129A>T (p.Thr1043=)
c.4077A>T (p.Thr1359=)
c.4074A>T (p.Thr1358=)
c.3993A>T (p.Thr1331=)
c.3924A>T (p.Thr1308=)
c.3792A>T (p.Thr1264=)
c.3660A>T (p.Thr1220=)
20g.32436526C>ACA408563853ASXL1c.3814C>A (p.Pro1272Thr)
c.3631C>A (p.Pro1211Thr)
n.6167C>A
c.1870-1904C>A (n.1870-1904C>A)
c.3799C>A (p.Pro1267Thr)
c.3811C>A (p.Pro1271Thr)
c.3784C>A (p.Pro1262Thr)
c.3730C>A (p.Pro1244Thr)
c.3130C>A (p.Pro1044Thr)
c.4078C>A (p.Pro1360Thr)
c.4075C>A (p.Pro1359Thr)
c.3994C>A (p.Pro1332Thr)
c.3925C>A (p.Pro1309Thr)
c.3793C>A (p.Pro1265Thr)
c.3661C>A (p.Pro1221Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436526C=CA2360293751ASXL1c.3814C= (p.Pro1272=)
c.3631C= (p.Pro1211=)
n.6167C=
c.1870-1904C= (n.1870-1904C=)
c.3799C= (p.Pro1267=)
c.3811C= (p.Pro1271=)
c.3784C= (p.Pro1262=)
c.3730C= (p.Pro1244=)
c.3130C= (p.Pro1044=)
c.4078C= (p.Pro1360=)
c.4075C= (p.Pro1359=)
c.3994C= (p.Pro1332=)
c.3925C= (p.Pro1309=)
c.3793C= (p.Pro1265=)
c.3661C= (p.Pro1221=)
20g.32436526C>GCA9808910ASXL1c.3814C>G (p.Pro1272Ala)
c.3631C>G (p.Pro1211Ala)
n.6167C>G
c.1870-1904C>G (n.1870-1904C>G)
c.3799C>G (p.Pro1267Ala)
c.3811C>G (p.Pro1271Ala)
c.3784C>G (p.Pro1262Ala)
c.3730C>G (p.Pro1244Ala)
c.3130C>G (p.Pro1044Ala)
c.4078C>G (p.Pro1360Ala)
c.4075C>G (p.Pro1359Ala)
c.3994C>G (p.Pro1332Ala)
c.3925C>G (p.Pro1309Ala)
c.3793C>G (p.Pro1265Ala)
c.3661C>G (p.Pro1221Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436526C>TCA313926364ASXL1c.3814C>T (p.Pro1272Ser)
c.3631C>T (p.Pro1211Ser)
n.6167C>T
c.1870-1904C>T (n.1870-1904C>T)
c.3799C>T (p.Pro1267Ser)
c.3811C>T (p.Pro1271Ser)
c.3784C>T (p.Pro1262Ser)
c.3730C>T (p.Pro1244Ser)
c.3130C>T (p.Pro1044Ser)
c.4078C>T (p.Pro1360Ser)
c.4075C>T (p.Pro1359Ser)
c.3994C>T (p.Pro1332Ser)
c.3925C>T (p.Pro1309Ser)
c.3793C>T (p.Pro1265Ser)
c.3661C>T (p.Pro1221Ser)
 dbSNP
20g.32436527C>ACA9808911ASXL1c.3815C>A (p.Pro1272His)
c.3632C>A (p.Pro1211His)
n.6168C>A
c.1870-1903C>A (n.1870-1903C>A)
c.3800C>A (p.Pro1267His)
c.3812C>A (p.Pro1271His)
c.3785C>A (p.Pro1262His)
c.3731C>A (p.Pro1244His)
c.3131C>A (p.Pro1044His)
c.4079C>A (p.Pro1360His)
c.4076C>A (p.Pro1359His)
c.3995C>A (p.Pro1332His)
c.3926C>A (p.Pro1309His)
c.3794C>A (p.Pro1265His)
c.3662C>A (p.Pro1221His)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436527C=CA2360293752ASXL1c.3815C= (p.Pro1272=)
c.3632C= (p.Pro1211=)
n.6168C=
c.1870-1903C= (n.1870-1903C=)
c.3800C= (p.Pro1267=)
c.3812C= (p.Pro1271=)
c.3785C= (p.Pro1262=)
c.3731C= (p.Pro1244=)
c.3131C= (p.Pro1044=)
c.4079C= (p.Pro1360=)
c.4076C= (p.Pro1359=)
c.3995C= (p.Pro1332=)
c.3926C= (p.Pro1309=)
c.3794C= (p.Pro1265=)
c.3662C= (p.Pro1221=)
20g.32436527C>GCA408563854ASXL1c.3815C>G (p.Pro1272Arg)
c.3632C>G (p.Pro1211Arg)
n.6168C>G
c.1870-1903C>G (n.1870-1903C>G)
c.3800C>G (p.Pro1267Arg)
c.3812C>G (p.Pro1271Arg)
c.3785C>G (p.Pro1262Arg)
c.3731C>G (p.Pro1244Arg)
c.3131C>G (p.Pro1044Arg)
c.4079C>G (p.Pro1360Arg)
c.4076C>G (p.Pro1359Arg)
c.3995C>G (p.Pro1332Arg)
c.3926C>G (p.Pro1309Arg)
c.3794C>G (p.Pro1265Arg)
c.3662C>G (p.Pro1221Arg)
 gnomAD v4
20g.32436527C>TCA408563855ASXL1c.3815C>T (p.Pro1272Leu)
c.3632C>T (p.Pro1211Leu)
n.6168C>T
c.1870-1903C>T (n.1870-1903C>T)
c.3800C>T (p.Pro1267Leu)
c.3812C>T (p.Pro1271Leu)
c.3785C>T (p.Pro1262Leu)
c.3731C>T (p.Pro1244Leu)
c.3131C>T (p.Pro1044Leu)
c.4079C>T (p.Pro1360Leu)
c.4076C>T (p.Pro1359Leu)
c.3995C>T (p.Pro1332Leu)
c.3926C>T (p.Pro1309Leu)
c.3794C>T (p.Pro1265Leu)
c.3662C>T (p.Pro1221Leu)
 dbSNP
20g.32436528delCA2577366329ASXL1c.3816del (p.Arg1273ValfsTer7)
c.3633del (p.Arg1212ValfsTer7)
n.6169del
c.1870-1902del (n.1870-1902del)
c.3801del (p.Arg1268ValfsTer7)
c.3813del (p.Arg1272ValfsTer7)
c.3786del (p.Arg1263ValfsTer7)
c.3732del (p.Arg1245ValfsTer7)
c.3132del (p.Arg1045ValfsTer7)
c.4080del (p.Arg1361ValfsTer7)
c.4077del (p.Arg1360ValfsTer7)
c.3996del (p.Arg1333ValfsTer7)
c.3927del (p.Arg1310ValfsTer7)
c.3795del (p.Arg1266ValfsTer7)
c.3663del (p.Arg1222ValfsTer7)
20g.32436528T>ACA510467406ASXL1c.3816T>A (p.Pro1272=)
c.3633T>A (p.Pro1211=)
n.6169T>A
c.1870-1902T>A (n.1870-1902T>A)
c.3801T>A (p.Pro1267=)
c.3813T>A (p.Pro1271=)
c.3786T>A (p.Pro1262=)
c.3732T>A (p.Pro1244=)
c.3132T>A (p.Pro1044=)
c.4080T>A (p.Pro1360=)
c.4077T>A (p.Pro1359=)
c.3996T>A (p.Pro1332=)
c.3927T>A (p.Pro1309=)
c.3795T>A (p.Pro1265=)
c.3663T>A (p.Pro1221=)
20g.32436528T>CCA510467408ASXL1c.3816T>C (p.Pro1272=)
c.3633T>C (p.Pro1211=)
n.6169T>C
c.1870-1902T>C (n.1870-1902T>C)
c.3801T>C (p.Pro1267=)
c.3813T>C (p.Pro1271=)
c.3786T>C (p.Pro1262=)
c.3732T>C (p.Pro1244=)
c.3132T>C (p.Pro1044=)
c.4080T>C (p.Pro1360=)
c.4077T>C (p.Pro1359=)
c.3996T>C (p.Pro1332=)
c.3927T>C (p.Pro1309=)
c.3795T>C (p.Pro1265=)
c.3663T>C (p.Pro1221=)
20g.32436528T>GCA510467409ASXL1c.3816T>G (p.Pro1272=)
c.3633T>G (p.Pro1211=)
n.6169T>G
c.1870-1902T>G (n.1870-1902T>G)
c.3801T>G (p.Pro1267=)
c.3813T>G (p.Pro1271=)
c.3786T>G (p.Pro1262=)
c.3732T>G (p.Pro1244=)
c.3132T>G (p.Pro1044=)
c.4080T>G (p.Pro1360=)
c.4077T>G (p.Pro1359=)
c.3996T>G (p.Pro1332=)
c.3927T>G (p.Pro1309=)
c.3795T>G (p.Pro1265=)
c.3663T>G (p.Pro1221=)
 gnomAD v4
20g.32436529delCA2580060356ASXL1c.3817del (p.Arg1273ValfsTer7)
c.3634del (p.Arg1212ValfsTer7)
n.6170del
c.1870-1901del (n.1870-1901del)
c.3802del (p.Arg1268ValfsTer7)
c.3814del (p.Arg1272ValfsTer7)
c.3787del (p.Arg1263ValfsTer7)
c.3733del (p.Arg1245ValfsTer7)
c.3133del (p.Arg1045ValfsTer7)
c.4081del (p.Arg1361ValfsTer7)
c.4078del (p.Arg1360ValfsTer7)
c.3997del (p.Arg1333ValfsTer7)
c.3928del (p.Arg1310ValfsTer7)
c.3796del (p.Arg1266ValfsTer7)
c.3664del (p.Arg1222ValfsTer7)
20g.32436529C>ACA408563856ASXL1c.3817C>A (p.Arg1273Ser)
c.3634C>A (p.Arg1212Ser)
n.6170C>A
c.1870-1901C>A (n.1870-1901C>A)
c.3802C>A (p.Arg1268Ser)
c.3814C>A (p.Arg1272Ser)
c.3787C>A (p.Arg1263Ser)
c.3733C>A (p.Arg1245Ser)
c.3133C>A (p.Arg1045Ser)
c.4081C>A (p.Arg1361Ser)
c.4078C>A (p.Arg1360Ser)
c.3997C>A (p.Arg1333Ser)
c.3928C>A (p.Arg1310Ser)
c.3796C>A (p.Arg1266Ser)
c.3664C>A (p.Arg1222Ser)
 dbSNP
20g.32436529C=CA2360293753ASXL1c.3817C= (p.Arg1273=)
c.3634C= (p.Arg1212=)
n.6170C=
c.1870-1901C= (n.1870-1901C=)
c.3802C= (p.Arg1268=)
c.3814C= (p.Arg1272=)
c.3787C= (p.Arg1263=)
c.3733C= (p.Arg1245=)
c.3133C= (p.Arg1045=)
c.4081C= (p.Arg1361=)
c.4078C= (p.Arg1360=)
c.3997C= (p.Arg1333=)
c.3928C= (p.Arg1310=)
c.3796C= (p.Arg1266=)
c.3664C= (p.Arg1222=)
20g.32436529C>GCA408563857ASXL1c.3817C>G (p.Arg1273Gly)
c.3634C>G (p.Arg1212Gly)
n.6170C>G
c.1870-1901C>G (n.1870-1901C>G)
c.3802C>G (p.Arg1268Gly)
c.3814C>G (p.Arg1272Gly)
c.3787C>G (p.Arg1263Gly)
c.3733C>G (p.Arg1245Gly)
c.3133C>G (p.Arg1045Gly)
c.4081C>G (p.Arg1361Gly)
c.4078C>G (p.Arg1360Gly)
c.3997C>G (p.Arg1333Gly)
c.3928C>G (p.Arg1310Gly)
c.3796C>G (p.Arg1266Gly)
c.3664C>G (p.Arg1222Gly)
 dbSNP gnomAD v4
20g.32436529C>TCA157014ASXL1c.3817C>T (p.Arg1273Cys)
c.3634C>T (p.Arg1212Cys)
n.6170C>T
c.1870-1901C>T (n.1870-1901C>T)
c.3802C>T (p.Arg1268Cys)
c.3814C>T (p.Arg1272Cys)
c.3787C>T (p.Arg1263Cys)
c.3733C>T (p.Arg1245Cys)
c.3133C>T (p.Arg1045Cys)
c.4081C>T (p.Arg1361Cys)
c.4078C>T (p.Arg1360Cys)
c.3997C>T (p.Arg1333Cys)
c.3928C>T (p.Arg1310Cys)
c.3796C>T (p.Arg1266Cys)
c.3664C>T (p.Arg1222Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436530G>ACA9808912ASXL1c.3818G>A (p.Arg1273His)
c.3635G>A (p.Arg1212His)
n.6171G>A
c.1870-1900G>A (n.1870-1900G>A)
c.3803G>A (p.Arg1268His)
c.3815G>A (p.Arg1272His)
c.3788G>A (p.Arg1263His)
c.3734G>A (p.Arg1245His)
c.3134G>A (p.Arg1045His)
c.4082G>A (p.Arg1361His)
c.4079G>A (p.Arg1360His)
c.3998G>A (p.Arg1333His)
c.3929G>A (p.Arg1310His)
c.3797G>A (p.Arg1266His)
c.3665G>A (p.Arg1222His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436530G>CCA408563858ASXL1c.3818G>C (p.Arg1273Pro)
c.3635G>C (p.Arg1212Pro)
n.6171G>C
c.1870-1900G>C (n.1870-1900G>C)
c.3803G>C (p.Arg1268Pro)
c.3815G>C (p.Arg1272Pro)
c.3788G>C (p.Arg1263Pro)
c.3734G>C (p.Arg1245Pro)
c.3134G>C (p.Arg1045Pro)
c.4082G>C (p.Arg1361Pro)
c.4079G>C (p.Arg1360Pro)
c.3998G>C (p.Arg1333Pro)
c.3929G>C (p.Arg1310Pro)
c.3797G>C (p.Arg1266Pro)
c.3665G>C (p.Arg1222Pro)
 dbSNP
20g.32436530G=CA2360293754ASXL1c.3818G= (p.Arg1273=)
c.3635G= (p.Arg1212=)
n.6171G=
c.1870-1900G= (n.1870-1900G=)
c.3803G= (p.Arg1268=)
c.3815G= (p.Arg1272=)
c.3788G= (p.Arg1263=)
c.3734G= (p.Arg1245=)
c.3134G= (p.Arg1045=)
c.4082G= (p.Arg1361=)
c.4079G= (p.Arg1360=)
c.3998G= (p.Arg1333=)
c.3929G= (p.Arg1310=)
c.3797G= (p.Arg1266=)
c.3665G= (p.Arg1222=)
20g.32436530G>TCA408563859ASXL1c.3818G>T (p.Arg1273Leu)
c.3635G>T (p.Arg1212Leu)
n.6171G>T
c.1870-1900G>T (n.1870-1900G>T)
c.3803G>T (p.Arg1268Leu)
c.3815G>T (p.Arg1272Leu)
c.3788G>T (p.Arg1263Leu)
c.3734G>T (p.Arg1245Leu)
c.3134G>T (p.Arg1045Leu)
c.4082G>T (p.Arg1361Leu)
c.4079G>T (p.Arg1360Leu)
c.3998G>T (p.Arg1333Leu)
c.3929G>T (p.Arg1310Leu)
c.3797G>T (p.Arg1266Leu)
c.3665G>T (p.Arg1222Leu)
 gnomAD v4
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)

Number of alleles fetched