Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436141_32436155delinsCCATGGCTCGCTACGCA2360293552ASXL1c.3429_3443delinsCCATGGCTCGCTACG (p.Ser1143=)
c.3246_3260delinsCCATGGCTCGCTACG (p.Ser1082=)
n.5782_5796delinsCCATGGCTCGCTACG
c.1869+1560_1869+1574delinsCCATGGCTCGCTACG (n.1869+1560_1869+1574delinsCCATGGCTCGCTACG)
c.3414_3428delinsCCATGGCTCGCTACG (p.Ser1138=)
c.3426_3440delinsCCATGGCTCGCTACG (p.Ser1142=)
c.3399_3413delinsCCATGGCTCGCTACG (p.Ser1133=)
c.3345_3359delinsCCATGGCTCGCTACG (p.Ser1115=)
c.2745_2759delinsCCATGGCTCGCTACG (p.Ser915=)
c.3693_3707delinsCCATGGCTCGCTACG (p.Ser1231=)
c.3690_3704delinsCCATGGCTCGCTACG (p.Ser1230=)
c.3609_3623delinsCCATGGCTCGCTACG (p.Ser1203=)
c.3540_3554delinsCCATGGCTCGCTACG (p.Ser1180=)
c.3408_3422delinsCCATGGCTCGCTACG (p.Ser1136=)
c.3276_3290delinsCCATGGCTCGCTACG (p.Ser1092=)
20g.32436147_32436160delCA9808819ASXL1c.3435_3448del (p.Ser1146IlefsTer13)
c.3252_3265del (p.Ser1085IlefsTer13)
n.5788_5801del
c.1869+1566_1869+1579del (n.1869+1566_1869+1579del)
c.3420_3433del (p.Ser1141IlefsTer13)
c.3432_3445del (p.Ser1145IlefsTer13)
c.3405_3418del (p.Ser1136IlefsTer13)
c.3351_3364del (p.Ser1118IlefsTer13)
c.2751_2764del (p.Ser918IlefsTer13)
c.3699_3712del (p.Ser1234IlefsTer13)
c.3696_3709del (p.Ser1233IlefsTer13)
c.3615_3628del (p.Ser1206IlefsTer13)
c.3546_3559del (p.Ser1183IlefsTer13)
c.3414_3427del (p.Ser1139IlefsTer13)
c.3282_3295del (p.Ser1095IlefsTer13)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436148T>ACA408563061ASXL1c.3436T>A (p.Ser1146Thr)
c.3253T>A (p.Ser1085Thr)
n.5789T>A
c.1869+1567T>A (n.1869+1567T>A)
c.3421T>A (p.Ser1141Thr)
c.3433T>A (p.Ser1145Thr)
c.3406T>A (p.Ser1136Thr)
c.3352T>A (p.Ser1118Thr)
c.2752T>A (p.Ser918Thr)
c.3700T>A (p.Ser1234Thr)
c.3697T>A (p.Ser1233Thr)
c.3616T>A (p.Ser1206Thr)
c.3547T>A (p.Ser1183Thr)
c.3415T>A (p.Ser1139Thr)
c.3283T>A (p.Ser1095Thr)
 dbSNP
20g.32436148T>CCA408563060ASXL1c.3436T>C (p.Ser1146Pro)
c.3253T>C (p.Ser1085Pro)
n.5789T>C
c.1869+1567T>C (n.1869+1567T>C)
c.3421T>C (p.Ser1141Pro)
c.3433T>C (p.Ser1145Pro)
c.3406T>C (p.Ser1136Pro)
c.3352T>C (p.Ser1118Pro)
c.2752T>C (p.Ser918Pro)
c.3700T>C (p.Ser1234Pro)
c.3697T>C (p.Ser1233Pro)
c.3616T>C (p.Ser1206Pro)
c.3547T>C (p.Ser1183Pro)
c.3415T>C (p.Ser1139Pro)
c.3283T>C (p.Ser1095Pro)
 dbSNP gnomAD v3 gnomAD v4
20g.32436148T>GCA408563059ASXL1c.3436T>G (p.Ser1146Ala)
c.3253T>G (p.Ser1085Ala)
n.5789T>G
c.1869+1567T>G (n.1869+1567T>G)
c.3421T>G (p.Ser1141Ala)
c.3433T>G (p.Ser1145Ala)
c.3406T>G (p.Ser1136Ala)
c.3352T>G (p.Ser1118Ala)
c.2752T>G (p.Ser918Ala)
c.3700T>G (p.Ser1234Ala)
c.3697T>G (p.Ser1233Ala)
c.3616T>G (p.Ser1206Ala)
c.3547T>G (p.Ser1183Ala)
c.3415T>G (p.Ser1139Ala)
c.3283T>G (p.Ser1095Ala)
20g.32436148T=CA2360293556ASXL1c.3436T= (p.Ser1146=)
c.3253T= (p.Ser1085=)
n.5789T=
c.1869+1567T= (n.1869+1567T=)
c.3421T= (p.Ser1141=)
c.3433T= (p.Ser1145=)
c.3406T= (p.Ser1136=)
c.3352T= (p.Ser1118=)
c.2752T= (p.Ser918=)
c.3700T= (p.Ser1234=)
c.3697T= (p.Ser1233=)
c.3616T= (p.Ser1206=)
c.3547T= (p.Ser1183=)
c.3415T= (p.Ser1139=)
c.3283T= (p.Ser1095=)
20g.32436149C>ACA408563062ASXL1c.3437C>A (p.Ser1146Ter)
c.3254C>A (p.Ser1085Ter)
n.5790C>A
c.1869+1568C>A (n.1869+1568C>A)
c.3422C>A (p.Ser1141Ter)
c.3434C>A (p.Ser1145Ter)
c.3407C>A (p.Ser1136Ter)
c.3353C>A (p.Ser1118Ter)
c.2753C>A (p.Ser918Ter)
c.3701C>A (p.Ser1234Ter)
c.3698C>A (p.Ser1233Ter)
c.3617C>A (p.Ser1206Ter)
c.3548C>A (p.Ser1183Ter)
c.3416C>A (p.Ser1139Ter)
c.3284C>A (p.Ser1095Ter)
 ClinVar dbSNP
20g.32436149C=CA2360293557ASXL1c.3437C= (p.Ser1146=)
c.3254C= (p.Ser1085=)
n.5790C=
c.1869+1568C= (n.1869+1568C=)
c.3422C= (p.Ser1141=)
c.3434C= (p.Ser1145=)
c.3407C= (p.Ser1136=)
c.3353C= (p.Ser1118=)
c.2753C= (p.Ser918=)
c.3701C= (p.Ser1234=)
c.3698C= (p.Ser1233=)
c.3617C= (p.Ser1206=)
c.3548C= (p.Ser1183=)
c.3416C= (p.Ser1139=)
c.3284C= (p.Ser1095=)
20g.32436149C>GCA408563063ASXL1c.3437C>G (p.Ser1146Trp)
c.3254C>G (p.Ser1085Trp)
n.5790C>G
c.1869+1568C>G (n.1869+1568C>G)
c.3422C>G (p.Ser1141Trp)
c.3434C>G (p.Ser1145Trp)
c.3407C>G (p.Ser1136Trp)
c.3353C>G (p.Ser1118Trp)
c.2753C>G (p.Ser918Trp)
c.3701C>G (p.Ser1234Trp)
c.3698C>G (p.Ser1233Trp)
c.3617C>G (p.Ser1206Trp)
c.3548C>G (p.Ser1183Trp)
c.3416C>G (p.Ser1139Trp)
c.3284C>G (p.Ser1095Trp)
20g.32436149C>TCA9808823ASXL1c.3437C>T (p.Ser1146Leu)
c.3254C>T (p.Ser1085Leu)
n.5790C>T
c.1869+1568C>T (n.1869+1568C>T)
c.3422C>T (p.Ser1141Leu)
c.3434C>T (p.Ser1145Leu)
c.3407C>T (p.Ser1136Leu)
c.3353C>T (p.Ser1118Leu)
c.2753C>T (p.Ser918Leu)
c.3701C>T (p.Ser1234Leu)
c.3698C>T (p.Ser1233Leu)
c.3617C>T (p.Ser1206Leu)
c.3548C>T (p.Ser1183Leu)
c.3416C>T (p.Ser1139Leu)
c.3284C>T (p.Ser1095Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436149dupCA2652401206ASXL1c.3437dup (p.Leu1147AlafsTer17)
c.3254dup (p.Leu1086AlafsTer17)
n.5790dup
c.1869+1568dup (n.1869+1568dup)
c.3422dup (p.Leu1142AlafsTer17)
c.3434dup (p.Leu1146AlafsTer17)
c.3407dup (p.Leu1137AlafsTer17)
c.3353dup (p.Leu1119AlafsTer17)
c.2753dup (p.Leu919AlafsTer17)
c.3701dup (p.Leu1235AlafsTer17)
c.3698dup (p.Leu1234AlafsTer17)
c.3617dup (p.Leu1207AlafsTer17)
c.3548dup (p.Leu1184AlafsTer17)
c.3416dup (p.Leu1140AlafsTer17)
c.3284dup (p.Leu1096AlafsTer17)
 gnomAD v4
20g.32436150G>ACA9808824ASXL1c.3438G>A (p.Ser1146=)
c.3255G>A (p.Ser1085=)
n.5791G>A
c.1869+1569G>A (n.1869+1569G>A)
c.3423G>A (p.Ser1141=)
c.3435G>A (p.Ser1145=)
c.3408G>A (p.Ser1136=)
c.3354G>A (p.Ser1118=)
c.2754G>A (p.Ser918=)
c.3702G>A (p.Ser1234=)
c.3699G>A (p.Ser1233=)
c.3618G>A (p.Ser1206=)
c.3549G>A (p.Ser1183=)
c.3417G>A (p.Ser1139=)
c.3285G>A (p.Ser1095=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436150G>CCA510467246ASXL1c.3438G>C (p.Ser1146=)
c.3255G>C (p.Ser1085=)
n.5791G>C
c.1869+1569G>C (n.1869+1569G>C)
c.3423G>C (p.Ser1141=)
c.3435G>C (p.Ser1145=)
c.3408G>C (p.Ser1136=)
c.3354G>C (p.Ser1118=)
c.2754G>C (p.Ser918=)
c.3702G>C (p.Ser1234=)
c.3699G>C (p.Ser1233=)
c.3618G>C (p.Ser1206=)
c.3549G>C (p.Ser1183=)
c.3417G>C (p.Ser1139=)
c.3285G>C (p.Ser1095=)
20g.32436150G=CA2360293558ASXL1c.3438G= (p.Ser1146=)
c.3255G= (p.Ser1085=)
n.5791G=
c.1869+1569G= (n.1869+1569G=)
c.3423G= (p.Ser1141=)
c.3435G= (p.Ser1145=)
c.3408G= (p.Ser1136=)
c.3354G= (p.Ser1118=)
c.2754G= (p.Ser918=)
c.3702G= (p.Ser1234=)
c.3699G= (p.Ser1233=)
c.3618G= (p.Ser1206=)
c.3549G= (p.Ser1183=)
c.3417G= (p.Ser1139=)
c.3285G= (p.Ser1095=)
20g.32436150G>TCA510467247ASXL1c.3438G>T (p.Ser1146=)
c.3255G>T (p.Ser1085=)
n.5791G>T
c.1869+1569G>T (n.1869+1569G>T)
c.3423G>T (p.Ser1141=)
c.3435G>T (p.Ser1145=)
c.3408G>T (p.Ser1136=)
c.3354G>T (p.Ser1118=)
c.2754G>T (p.Ser918=)
c.3702G>T (p.Ser1234=)
c.3699G>T (p.Ser1233=)
c.3618G>T (p.Ser1206=)
c.3549G>T (p.Ser1183=)
c.3417G>T (p.Ser1139=)
c.3285G>T (p.Ser1095=)
 gnomAD v4
20g.32436151C>ACA408563064ASXL1c.3439C>A (p.Leu1147Ile)
c.3256C>A (p.Leu1086Ile)
n.5792C>A
c.1869+1570C>A (n.1869+1570C>A)
c.3424C>A (p.Leu1142Ile)
c.3436C>A (p.Leu1146Ile)
c.3409C>A (p.Leu1137Ile)
c.3355C>A (p.Leu1119Ile)
c.2755C>A (p.Leu919Ile)
c.3703C>A (p.Leu1235Ile)
c.3700C>A (p.Leu1234Ile)
c.3619C>A (p.Leu1207Ile)
c.3550C>A (p.Leu1184Ile)
c.3418C>A (p.Leu1140Ile)
c.3286C>A (p.Leu1096Ile)
20g.32436151C>GCA408563065ASXL1c.3439C>G (p.Leu1147Val)
c.3256C>G (p.Leu1086Val)
n.5792C>G
c.1869+1570C>G (n.1869+1570C>G)
c.3424C>G (p.Leu1142Val)
c.3436C>G (p.Leu1146Val)
c.3409C>G (p.Leu1137Val)
c.3355C>G (p.Leu1119Val)
c.2755C>G (p.Leu919Val)
c.3703C>G (p.Leu1235Val)
c.3700C>G (p.Leu1234Val)
c.3619C>G (p.Leu1207Val)
c.3550C>G (p.Leu1184Val)
c.3418C>G (p.Leu1140Val)
c.3286C>G (p.Leu1096Val)
 gnomAD v4
20g.32436151C>TCA510467248ASXL1c.3439C>T (p.Leu1147=)
c.3256C>T (p.Leu1086=)
n.5792C>T
c.1869+1570C>T (n.1869+1570C>T)
c.3424C>T (p.Leu1142=)
c.3436C>T (p.Leu1146=)
c.3409C>T (p.Leu1137=)
c.3355C>T (p.Leu1119=)
c.2755C>T (p.Leu919=)
c.3703C>T (p.Leu1235=)
c.3700C>T (p.Leu1234=)
c.3619C>T (p.Leu1207=)
c.3550C>T (p.Leu1184=)
c.3418C>T (p.Leu1140=)
c.3286C>T (p.Leu1096=)
20g.32436152T>ACA408563066ASXL1c.3440T>A (p.Leu1147Gln)
c.3257T>A (p.Leu1086Gln)
n.5793T>A
c.1869+1571T>A (n.1869+1571T>A)
c.3425T>A (p.Leu1142Gln)
c.3437T>A (p.Leu1146Gln)
c.3410T>A (p.Leu1137Gln)
c.3356T>A (p.Leu1119Gln)
c.2756T>A (p.Leu919Gln)
c.3704T>A (p.Leu1235Gln)
c.3701T>A (p.Leu1234Gln)
c.3620T>A (p.Leu1207Gln)
c.3551T>A (p.Leu1184Gln)
c.3419T>A (p.Leu1140Gln)
c.3287T>A (p.Leu1096Gln)
20g.32436152T>CCA408563067ASXL1c.3440T>C (p.Leu1147Pro)
c.3257T>C (p.Leu1086Pro)
n.5793T>C
c.1869+1571T>C (n.1869+1571T>C)
c.3425T>C (p.Leu1142Pro)
c.3437T>C (p.Leu1146Pro)
c.3410T>C (p.Leu1137Pro)
c.3356T>C (p.Leu1119Pro)
c.2756T>C (p.Leu919Pro)
c.3704T>C (p.Leu1235Pro)
c.3701T>C (p.Leu1234Pro)
c.3620T>C (p.Leu1207Pro)
c.3551T>C (p.Leu1184Pro)
c.3419T>C (p.Leu1140Pro)
c.3287T>C (p.Leu1096Pro)
20g.32436152T>GCA408563068ASXL1c.3440T>G (p.Leu1147Arg)
c.3257T>G (p.Leu1086Arg)
n.5793T>G
c.1869+1571T>G (n.1869+1571T>G)
c.3425T>G (p.Leu1142Arg)
c.3437T>G (p.Leu1146Arg)
c.3410T>G (p.Leu1137Arg)
c.3356T>G (p.Leu1119Arg)
c.2756T>G (p.Leu919Arg)
c.3704T>G (p.Leu1235Arg)
c.3701T>G (p.Leu1234Arg)
c.3620T>G (p.Leu1207Arg)
c.3551T>G (p.Leu1184Arg)
c.3419T>G (p.Leu1140Arg)
c.3287T>G (p.Leu1096Arg)
20g.32436153A>CCA510467249ASXL1c.3441A>C (p.Leu1147=)
c.3258A>C (p.Leu1086=)
n.5794A>C
c.1869+1572A>C (n.1869+1572A>C)
c.3426A>C (p.Leu1142=)
c.3438A>C (p.Leu1146=)
c.3411A>C (p.Leu1137=)
c.3357A>C (p.Leu1119=)
c.2757A>C (p.Leu919=)
c.3705A>C (p.Leu1235=)
c.3702A>C (p.Leu1234=)
c.3621A>C (p.Leu1207=)
c.3552A>C (p.Leu1184=)
c.3420A>C (p.Leu1140=)
c.3288A>C (p.Leu1096=)
20g.32436153A>GCA510467251ASXL1c.3441A>G (p.Leu1147=)
c.3258A>G (p.Leu1086=)
n.5794A>G
c.1869+1572A>G (n.1869+1572A>G)
c.3426A>G (p.Leu1142=)
c.3438A>G (p.Leu1146=)
c.3411A>G (p.Leu1137=)
c.3357A>G (p.Leu1119=)
c.2757A>G (p.Leu919=)
c.3705A>G (p.Leu1235=)
c.3702A>G (p.Leu1234=)
c.3621A>G (p.Leu1207=)
c.3552A>G (p.Leu1184=)
c.3420A>G (p.Leu1140=)
c.3288A>G (p.Leu1096=)
 dbSNP
20g.32436153A>TCA510467250ASXL1c.3441A>T (p.Leu1147=)
c.3258A>T (p.Leu1086=)
n.5794A>T
c.1869+1572A>T (n.1869+1572A>T)
c.3426A>T (p.Leu1142=)
c.3438A>T (p.Leu1146=)
c.3411A>T (p.Leu1137=)
c.3357A>T (p.Leu1119=)
c.2757A>T (p.Leu919=)
c.3705A>T (p.Leu1235=)
c.3702A>T (p.Leu1234=)
c.3621A>T (p.Leu1207=)
c.3552A>T (p.Leu1184=)
c.3420A>T (p.Leu1140=)
c.3288A>T (p.Leu1096=)
 dbSNP gnomAD v4
20g.32436154C>ACA408563070ASXL1c.3442C>A (p.Arg1148Ser)
c.3259C>A (p.Arg1087Ser)
n.5795C>A
c.1869+1573C>A (n.1869+1573C>A)
c.3427C>A (p.Arg1143Ser)
c.3439C>A (p.Arg1147Ser)
c.3412C>A (p.Arg1138Ser)
c.3358C>A (p.Arg1120Ser)
c.2758C>A (p.Arg920Ser)
c.3706C>A (p.Arg1236Ser)
c.3703C>A (p.Arg1235Ser)
c.3622C>A (p.Arg1208Ser)
c.3553C>A (p.Arg1185Ser)
c.3421C>A (p.Arg1141Ser)
c.3289C>A (p.Arg1097Ser)
20g.32436154C=CA2360293559ASXL1c.3442C= (p.Arg1148=)
c.3259C= (p.Arg1087=)
n.5795C=
c.1869+1573C= (n.1869+1573C=)
c.3427C= (p.Arg1143=)
c.3439C= (p.Arg1147=)
c.3412C= (p.Arg1138=)
c.3358C= (p.Arg1120=)
c.2758C= (p.Arg920=)
c.3706C= (p.Arg1236=)
c.3703C= (p.Arg1235=)
c.3622C= (p.Arg1208=)
c.3553C= (p.Arg1185=)
c.3421C= (p.Arg1141=)
c.3289C= (p.Arg1097=)
20g.32436154C>GCA408563069ASXL1c.3442C>G (p.Arg1148Gly)
c.3259C>G (p.Arg1087Gly)
n.5795C>G
c.1869+1573C>G (n.1869+1573C>G)
c.3427C>G (p.Arg1143Gly)
c.3439C>G (p.Arg1147Gly)
c.3412C>G (p.Arg1138Gly)
c.3358C>G (p.Arg1120Gly)
c.2758C>G (p.Arg920Gly)
c.3706C>G (p.Arg1236Gly)
c.3703C>G (p.Arg1235Gly)
c.3622C>G (p.Arg1208Gly)
c.3553C>G (p.Arg1185Gly)
c.3421C>G (p.Arg1141Gly)
c.3289C>G (p.Arg1097Gly)
20g.32436154C>TCA157002ASXL1c.3442C>T (p.Arg1148Cys)
c.3259C>T (p.Arg1087Cys)
n.5795C>T
c.1869+1573C>T (n.1869+1573C>T)
c.3427C>T (p.Arg1143Cys)
c.3439C>T (p.Arg1147Cys)
c.3412C>T (p.Arg1138Cys)
c.3358C>T (p.Arg1120Cys)
c.2758C>T (p.Arg920Cys)
c.3706C>T (p.Arg1236Cys)
c.3703C>T (p.Arg1235Cys)
c.3622C>T (p.Arg1208Cys)
c.3553C>T (p.Arg1185Cys)
c.3421C>T (p.Arg1141Cys)
c.3289C>T (p.Arg1097Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436155G>ACA9808825ASXL1c.3443G>A (p.Arg1148His)
c.3260G>A (p.Arg1087His)
n.5796G>A
c.1869+1574G>A (n.1869+1574G>A)
c.3428G>A (p.Arg1143His)
c.3440G>A (p.Arg1147His)
c.3413G>A (p.Arg1138His)
c.3359G>A (p.Arg1120His)
c.2759G>A (p.Arg920His)
c.3707G>A (p.Arg1236His)
c.3704G>A (p.Arg1235His)
c.3623G>A (p.Arg1208His)
c.3554G>A (p.Arg1185His)
c.3422G>A (p.Arg1141His)
c.3290G>A (p.Arg1097His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436155G>CCA408563071ASXL1c.3443G>C (p.Arg1148Pro)
c.3260G>C (p.Arg1087Pro)
n.5796G>C
c.1869+1574G>C (n.1869+1574G>C)
c.3428G>C (p.Arg1143Pro)
c.3440G>C (p.Arg1147Pro)
c.3413G>C (p.Arg1138Pro)
c.3359G>C (p.Arg1120Pro)
c.2759G>C (p.Arg920Pro)
c.3707G>C (p.Arg1236Pro)
c.3704G>C (p.Arg1235Pro)
c.3623G>C (p.Arg1208Pro)
c.3554G>C (p.Arg1185Pro)
c.3422G>C (p.Arg1141Pro)
c.3290G>C (p.Arg1097Pro)
20g.32436155G=CA2360293560ASXL1c.3443G= (p.Arg1148=)
c.3260G= (p.Arg1087=)
n.5796G=
c.1869+1574G= (n.1869+1574G=)
c.3428G= (p.Arg1143=)
c.3440G= (p.Arg1147=)
c.3413G= (p.Arg1138=)
c.3359G= (p.Arg1120=)
c.2759G= (p.Arg920=)
c.3707G= (p.Arg1236=)
c.3704G= (p.Arg1235=)
c.3623G= (p.Arg1208=)
c.3554G= (p.Arg1185=)
c.3422G= (p.Arg1141=)
c.3290G= (p.Arg1097=)
20g.32436155G>TCA408563072ASXL1c.3443G>T (p.Arg1148Leu)
c.3260G>T (p.Arg1087Leu)
n.5796G>T
c.1869+1574G>T (n.1869+1574G>T)
c.3428G>T (p.Arg1143Leu)
c.3440G>T (p.Arg1147Leu)
c.3413G>T (p.Arg1138Leu)
c.3359G>T (p.Arg1120Leu)
c.2759G>T (p.Arg920Leu)
c.3707G>T (p.Arg1236Leu)
c.3704G>T (p.Arg1235Leu)
c.3623G>T (p.Arg1208Leu)
c.3554G>T (p.Arg1185Leu)
c.3422G>T (p.Arg1141Leu)
c.3290G>T (p.Arg1097Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436155dupCA635268570ASXL1c.3443dup (p.Met1149HisfsTer15)
c.3260dup (p.Met1088HisfsTer15)
n.5796dup
c.1869+1574dup (n.1869+1574dup)
c.3428dup (p.Met1144HisfsTer15)
c.3440dup (p.Met1148HisfsTer15)
c.3413dup (p.Met1139HisfsTer15)
c.3359dup (p.Met1121HisfsTer15)
c.2759dup (p.Met921HisfsTer15)
c.3707dup (p.Met1237HisfsTer15)
c.3704dup (p.Met1236HisfsTer15)
c.3623dup (p.Met1209HisfsTer15)
c.3554dup (p.Met1186HisfsTer15)
c.3422dup (p.Met1142HisfsTer15)
c.3290dup (p.Met1098HisfsTer15)
 dbSNP gnomAD v2 gnomAD v4
20g.32436156C>ACA510467252ASXL1c.3444C>A (p.Arg1148=)
c.3261C>A (p.Arg1087=)
n.5797C>A
c.1869+1575C>A (n.1869+1575C>A)
c.3429C>A (p.Arg1143=)
c.3441C>A (p.Arg1147=)
c.3414C>A (p.Arg1138=)
c.3360C>A (p.Arg1120=)
c.2760C>A (p.Arg920=)
c.3708C>A (p.Arg1236=)
c.3705C>A (p.Arg1235=)
c.3624C>A (p.Arg1208=)
c.3555C>A (p.Arg1185=)
c.3423C>A (p.Arg1141=)
c.3291C>A (p.Arg1097=)
20g.32436156C>GCA510467253ASXL1c.3444C>G (p.Arg1148=)
c.3261C>G (p.Arg1087=)
n.5797C>G
c.1869+1575C>G (n.1869+1575C>G)
c.3429C>G (p.Arg1143=)
c.3441C>G (p.Arg1147=)
c.3414C>G (p.Arg1138=)
c.3360C>G (p.Arg1120=)
c.2760C>G (p.Arg920=)
c.3708C>G (p.Arg1236=)
c.3705C>G (p.Arg1235=)
c.3624C>G (p.Arg1208=)
c.3555C>G (p.Arg1185=)
c.3423C>G (p.Arg1141=)
c.3291C>G (p.Arg1097=)
 dbSNP
20g.32436156C>TCA510467254ASXL1c.3444C>T (p.Arg1148=)
c.3261C>T (p.Arg1087=)
n.5797C>T
c.1869+1575C>T (n.1869+1575C>T)
c.3429C>T (p.Arg1143=)
c.3441C>T (p.Arg1147=)
c.3414C>T (p.Arg1138=)
c.3360C>T (p.Arg1120=)
c.2760C>T (p.Arg920=)
c.3708C>T (p.Arg1236=)
c.3705C>T (p.Arg1235=)
c.3624C>T (p.Arg1208=)
c.3555C>T (p.Arg1185=)
c.3423C>T (p.Arg1141=)
c.3291C>T (p.Arg1097=)
20g.32436157A=CA2360293561ASXL1c.3445A= (p.Met1149=)
c.3262A= (p.Met1088=)
n.5798A=
c.1869+1576A= (n.1869+1576A=)
c.3430A= (p.Met1144=)
c.3442A= (p.Met1148=)
c.3415A= (p.Met1139=)
c.3361A= (p.Met1121=)
c.2761A= (p.Met921=)
c.3709A= (p.Met1237=)
c.3706A= (p.Met1236=)
c.3625A= (p.Met1209=)
c.3556A= (p.Met1186=)
c.3424A= (p.Met1142=)
c.3292A= (p.Met1098=)
20g.32436157A>CCA408563073ASXL1c.3445A>C (p.Met1149Leu)
c.3262A>C (p.Met1088Leu)
n.5798A>C
c.1869+1576A>C (n.1869+1576A>C)
c.3430A>C (p.Met1144Leu)
c.3442A>C (p.Met1148Leu)
c.3415A>C (p.Met1139Leu)
c.3361A>C (p.Met1121Leu)
c.2761A>C (p.Met921Leu)
c.3709A>C (p.Met1237Leu)
c.3706A>C (p.Met1236Leu)
c.3625A>C (p.Met1209Leu)
c.3556A>C (p.Met1186Leu)
c.3424A>C (p.Met1142Leu)
c.3292A>C (p.Met1098Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.32436157A>GCA408563074ASXL1c.3445A>G (p.Met1149Val)
c.3262A>G (p.Met1088Val)
n.5798A>G
c.1869+1576A>G (n.1869+1576A>G)
c.3430A>G (p.Met1144Val)
c.3442A>G (p.Met1148Val)
c.3415A>G (p.Met1139Val)
c.3361A>G (p.Met1121Val)
c.2761A>G (p.Met921Val)
c.3709A>G (p.Met1237Val)
c.3706A>G (p.Met1236Val)
c.3625A>G (p.Met1209Val)
c.3556A>G (p.Met1186Val)
c.3424A>G (p.Met1142Val)
c.3292A>G (p.Met1098Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436157A>TCA408563075ASXL1c.3445A>T (p.Met1149Leu)
c.3262A>T (p.Met1088Leu)
n.5798A>T
c.1869+1576A>T (n.1869+1576A>T)
c.3430A>T (p.Met1144Leu)
c.3442A>T (p.Met1148Leu)
c.3415A>T (p.Met1139Leu)
c.3361A>T (p.Met1121Leu)
c.2761A>T (p.Met921Leu)
c.3709A>T (p.Met1237Leu)
c.3706A>T (p.Met1236Leu)
c.3625A>T (p.Met1209Leu)
c.3556A>T (p.Met1186Leu)
c.3424A>T (p.Met1142Leu)
c.3292A>T (p.Met1098Leu)
20g.32436158T>ACA408563076ASXL1c.3446T>A (p.Met1149Lys)
c.3263T>A (p.Met1088Lys)
n.5799T>A
c.1869+1577T>A (n.1869+1577T>A)
c.3431T>A (p.Met1144Lys)
c.3443T>A (p.Met1148Lys)
c.3416T>A (p.Met1139Lys)
c.3362T>A (p.Met1121Lys)
c.2762T>A (p.Met921Lys)
c.3710T>A (p.Met1237Lys)
c.3707T>A (p.Met1236Lys)
c.3626T>A (p.Met1209Lys)
c.3557T>A (p.Met1186Lys)
c.3425T>A (p.Met1142Lys)
c.3293T>A (p.Met1098Lys)
20g.32436158T>CCA9808826ASXL1c.3446T>C (p.Met1149Thr)
c.3263T>C (p.Met1088Thr)
n.5799T>C
c.1869+1577T>C (n.1869+1577T>C)
c.3431T>C (p.Met1144Thr)
c.3443T>C (p.Met1148Thr)
c.3416T>C (p.Met1139Thr)
c.3362T>C (p.Met1121Thr)
c.2762T>C (p.Met921Thr)
c.3710T>C (p.Met1237Thr)
c.3707T>C (p.Met1236Thr)
c.3626T>C (p.Met1209Thr)
c.3557T>C (p.Met1186Thr)
c.3425T>C (p.Met1142Thr)
c.3293T>C (p.Met1098Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436158T>GCA408563077ASXL1c.3446T>G (p.Met1149Arg)
c.3263T>G (p.Met1088Arg)
n.5799T>G
c.1869+1577T>G (n.1869+1577T>G)
c.3431T>G (p.Met1144Arg)
c.3443T>G (p.Met1148Arg)
c.3416T>G (p.Met1139Arg)
c.3362T>G (p.Met1121Arg)
c.2762T>G (p.Met921Arg)
c.3710T>G (p.Met1237Arg)
c.3707T>G (p.Met1236Arg)
c.3626T>G (p.Met1209Arg)
c.3557T>G (p.Met1186Arg)
c.3425T>G (p.Met1142Arg)
c.3293T>G (p.Met1098Arg)
20g.32436158T=CA2360293562ASXL1c.3446T= (p.Met1149=)
c.3263T= (p.Met1088=)
n.5799T=
c.1869+1577T= (n.1869+1577T=)
c.3431T= (p.Met1144=)
c.3443T= (p.Met1148=)
c.3416T= (p.Met1139=)
c.3362T= (p.Met1121=)
c.2762T= (p.Met921=)
c.3710T= (p.Met1237=)
c.3707T= (p.Met1236=)
c.3626T= (p.Met1209=)
c.3557T= (p.Met1186=)
c.3425T= (p.Met1142=)
c.3293T= (p.Met1098=)
20g.32436159G>ACA408563078ASXL1c.3447G>A (p.Met1149Ile)
c.3264G>A (p.Met1088Ile)
n.5800G>A
c.1869+1578G>A (n.1869+1578G>A)
c.3432G>A (p.Met1144Ile)
c.3444G>A (p.Met1148Ile)
c.3417G>A (p.Met1139Ile)
c.3363G>A (p.Met1121Ile)
c.2763G>A (p.Met921Ile)
c.3711G>A (p.Met1237Ile)
c.3708G>A (p.Met1236Ile)
c.3627G>A (p.Met1209Ile)
c.3558G>A (p.Met1186Ile)
c.3426G>A (p.Met1142Ile)
c.3294G>A (p.Met1098Ile)
20g.32436159G>CCA408563079ASXL1c.3447G>C (p.Met1149Ile)
c.3264G>C (p.Met1088Ile)
n.5800G>C
c.1869+1578G>C (n.1869+1578G>C)
c.3432G>C (p.Met1144Ile)
c.3444G>C (p.Met1148Ile)
c.3417G>C (p.Met1139Ile)
c.3363G>C (p.Met1121Ile)
c.2763G>C (p.Met921Ile)
c.3711G>C (p.Met1237Ile)
c.3708G>C (p.Met1236Ile)
c.3627G>C (p.Met1209Ile)
c.3558G>C (p.Met1186Ile)
c.3426G>C (p.Met1142Ile)
c.3294G>C (p.Met1098Ile)
20g.32436159G=CA2360293563ASXL1c.3447G= (p.Met1149=)
c.3264G= (p.Met1088=)
n.5800G=
c.1869+1578G= (n.1869+1578G=)
c.3432G= (p.Met1144=)
c.3444G= (p.Met1148=)
c.3417G= (p.Met1139=)
c.3363G= (p.Met1121=)
c.2763G= (p.Met921=)
c.3711G= (p.Met1237=)
c.3708G= (p.Met1236=)
c.3627G= (p.Met1209=)
c.3558G= (p.Met1186=)
c.3426G= (p.Met1142=)
c.3294G= (p.Met1098=)
20g.32436159G>TCA9808827ASXL1c.3447G>T (p.Met1149Ile)
c.3264G>T (p.Met1088Ile)
n.5800G>T
c.1869+1578G>T (n.1869+1578G>T)
c.3432G>T (p.Met1144Ile)
c.3444G>T (p.Met1148Ile)
c.3417G>T (p.Met1139Ile)
c.3363G>T (p.Met1121Ile)
c.2763G>T (p.Met921Ile)
c.3711G>T (p.Met1237Ile)
c.3708G>T (p.Met1236Ile)
c.3627G>T (p.Met1209Ile)
c.3558G>T (p.Met1186Ile)
c.3426G>T (p.Met1142Ile)
c.3294G>T (p.Met1098Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436160G>ACA408563080ASXL1c.3448G>A (p.Gly1150Arg)
c.3265G>A (p.Gly1089Arg)
n.5801G>A
c.1869+1579G>A (n.1869+1579G>A)
c.3433G>A (p.Gly1145Arg)
c.3445G>A (p.Gly1149Arg)
c.3418G>A (p.Gly1140Arg)
c.3364G>A (p.Gly1122Arg)
c.2764G>A (p.Gly922Arg)
c.3712G>A (p.Gly1238Arg)
c.3709G>A (p.Gly1237Arg)
c.3628G>A (p.Gly1210Arg)
c.3559G>A (p.Gly1187Arg)
c.3427G>A (p.Gly1143Arg)
c.3295G>A (p.Gly1099Arg)
20g.32436160G>CCA9808828ASXL1c.3448G>C (p.Gly1150Arg)
c.3265G>C (p.Gly1089Arg)
n.5801G>C
c.1869+1579G>C (n.1869+1579G>C)
c.3433G>C (p.Gly1145Arg)
c.3445G>C (p.Gly1149Arg)
c.3418G>C (p.Gly1140Arg)
c.3364G>C (p.Gly1122Arg)
c.2764G>C (p.Gly922Arg)
c.3712G>C (p.Gly1238Arg)
c.3709G>C (p.Gly1237Arg)
c.3628G>C (p.Gly1210Arg)
c.3559G>C (p.Gly1187Arg)
c.3427G>C (p.Gly1143Arg)
c.3295G>C (p.Gly1099Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436160G=CA2360293564ASXL1c.3448G= (p.Gly1150=)
c.3265G= (p.Gly1089=)
n.5801G=
c.1869+1579G= (n.1869+1579G=)
c.3433G= (p.Gly1145=)
c.3445G= (p.Gly1149=)
c.3418G= (p.Gly1140=)
c.3364G= (p.Gly1122=)
c.2764G= (p.Gly922=)
c.3712G= (p.Gly1238=)
c.3709G= (p.Gly1237=)
c.3628G= (p.Gly1210=)
c.3559G= (p.Gly1187=)
c.3427G= (p.Gly1143=)
c.3295G= (p.Gly1099=)
20g.32436160G>TCA408563081ASXL1c.3448G>T (p.Gly1150Ter)
c.3265G>T (p.Gly1089Ter)
n.5801G>T
c.1869+1579G>T (n.1869+1579G>T)
c.3433G>T (p.Gly1145Ter)
c.3445G>T (p.Gly1149Ter)
c.3418G>T (p.Gly1140Ter)
c.3364G>T (p.Gly1122Ter)
c.2764G>T (p.Gly922Ter)
c.3712G>T (p.Gly1238Ter)
c.3709G>T (p.Gly1237Ter)
c.3628G>T (p.Gly1210Ter)
c.3559G>T (p.Gly1187Ter)
c.3427G>T (p.Gly1143Ter)
c.3295G>T (p.Gly1099Ter)
20g.32436161G>ACA408563082ASXL1c.3449G>A (p.Gly1150Glu)
c.3266G>A (p.Gly1089Glu)
n.5802G>A
c.1869+1580G>A (n.1869+1580G>A)
c.3434G>A (p.Gly1145Glu)
c.3446G>A (p.Gly1149Glu)
c.3419G>A (p.Gly1140Glu)
c.3365G>A (p.Gly1122Glu)
c.2765G>A (p.Gly922Glu)
c.3713G>A (p.Gly1238Glu)
c.3710G>A (p.Gly1237Glu)
c.3629G>A (p.Gly1210Glu)
c.3560G>A (p.Gly1187Glu)
c.3428G>A (p.Gly1143Glu)
c.3296G>A (p.Gly1099Glu)
 dbSNP gnomAD v4
20g.32436161G>CCA408563083ASXL1c.3449G>C (p.Gly1150Ala)
c.3266G>C (p.Gly1089Ala)
n.5802G>C
c.1869+1580G>C (n.1869+1580G>C)
c.3434G>C (p.Gly1145Ala)
c.3446G>C (p.Gly1149Ala)
c.3419G>C (p.Gly1140Ala)
c.3365G>C (p.Gly1122Ala)
c.2765G>C (p.Gly922Ala)
c.3713G>C (p.Gly1238Ala)
c.3710G>C (p.Gly1237Ala)
c.3629G>C (p.Gly1210Ala)
c.3560G>C (p.Gly1187Ala)
c.3428G>C (p.Gly1143Ala)
c.3296G>C (p.Gly1099Ala)
 dbSNP
20g.32436161G=CA2360293565ASXL1c.3449G= (p.Gly1150=)
c.3266G= (p.Gly1089=)
n.5802G=
c.1869+1580G= (n.1869+1580G=)
c.3434G= (p.Gly1145=)
c.3446G= (p.Gly1149=)
c.3419G= (p.Gly1140=)
c.3365G= (p.Gly1122=)
c.2765G= (p.Gly922=)
c.3713G= (p.Gly1238=)
c.3710G= (p.Gly1237=)
c.3629G= (p.Gly1210=)
c.3560G= (p.Gly1187=)
c.3428G= (p.Gly1143=)
c.3296G= (p.Gly1099=)
20g.32436161G>TCA9808829ASXL1c.3449G>T (p.Gly1150Val)
c.3266G>T (p.Gly1089Val)
n.5802G>T
c.1869+1580G>T (n.1869+1580G>T)
c.3434G>T (p.Gly1145Val)
c.3446G>T (p.Gly1149Val)
c.3419G>T (p.Gly1140Val)
c.3365G>T (p.Gly1122Val)
c.2765G>T (p.Gly922Val)
c.3713G>T (p.Gly1238Val)
c.3710G>T (p.Gly1237Val)
c.3629G>T (p.Gly1210Val)
c.3560G>T (p.Gly1187Val)
c.3428G>T (p.Gly1143Val)
c.3296G>T (p.Gly1099Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436162A>CCA510467255ASXL1c.3450A>C (p.Gly1150=)
c.3267A>C (p.Gly1089=)
n.5803A>C
c.1869+1581A>C (n.1869+1581A>C)
c.3435A>C (p.Gly1145=)
c.3447A>C (p.Gly1149=)
c.3420A>C (p.Gly1140=)
c.3366A>C (p.Gly1122=)
c.2766A>C (p.Gly922=)
c.3714A>C (p.Gly1238=)
c.3711A>C (p.Gly1237=)
c.3630A>C (p.Gly1210=)
c.3561A>C (p.Gly1187=)
c.3429A>C (p.Gly1143=)
c.3297A>C (p.Gly1099=)
20g.32436162A>GCA510467256ASXL1c.3450A>G (p.Gly1150=)
c.3267A>G (p.Gly1089=)
n.5803A>G
c.1869+1581A>G (n.1869+1581A>G)
c.3435A>G (p.Gly1145=)
c.3447A>G (p.Gly1149=)
c.3420A>G (p.Gly1140=)
c.3366A>G (p.Gly1122=)
c.2766A>G (p.Gly922=)
c.3714A>G (p.Gly1238=)
c.3711A>G (p.Gly1237=)
c.3630A>G (p.Gly1210=)
c.3561A>G (p.Gly1187=)
c.3429A>G (p.Gly1143=)
c.3297A>G (p.Gly1099=)
20g.32436162A>TCA510467257ASXL1c.3450A>T (p.Gly1150=)
c.3267A>T (p.Gly1089=)
n.5803A>T
c.1869+1581A>T (n.1869+1581A>T)
c.3435A>T (p.Gly1145=)
c.3447A>T (p.Gly1149=)
c.3420A>T (p.Gly1140=)
c.3366A>T (p.Gly1122=)
c.2766A>T (p.Gly922=)
c.3714A>T (p.Gly1238=)
c.3711A>T (p.Gly1237=)
c.3630A>T (p.Gly1210=)
c.3561A>T (p.Gly1187=)
c.3429A>T (p.Gly1143=)
c.3297A>T (p.Gly1099=)
 ClinVar
20g.32436163T>ACA408563084ASXL1c.3451T>A (p.Ser1151Thr)
c.3268T>A (p.Ser1090Thr)
n.5804T>A
c.1869+1582T>A (n.1869+1582T>A)
c.3436T>A (p.Ser1146Thr)
c.3448T>A (p.Ser1150Thr)
c.3421T>A (p.Ser1141Thr)
c.3367T>A (p.Ser1123Thr)
c.2767T>A (p.Ser923Thr)
c.3715T>A (p.Ser1239Thr)
c.3712T>A (p.Ser1238Thr)
c.3631T>A (p.Ser1211Thr)
c.3562T>A (p.Ser1188Thr)
c.3430T>A (p.Ser1144Thr)
c.3298T>A (p.Ser1100Thr)
 ClinVar
20g.32436163T>CCA408563085ASXL1c.3451T>C (p.Ser1151Pro)
c.3268T>C (p.Ser1090Pro)
n.5804T>C
c.1869+1582T>C (n.1869+1582T>C)
c.3436T>C (p.Ser1146Pro)
c.3448T>C (p.Ser1150Pro)
c.3421T>C (p.Ser1141Pro)
c.3367T>C (p.Ser1123Pro)
c.2767T>C (p.Ser923Pro)
c.3715T>C (p.Ser1239Pro)
c.3712T>C (p.Ser1238Pro)
c.3631T>C (p.Ser1211Pro)
c.3562T>C (p.Ser1188Pro)
c.3430T>C (p.Ser1144Pro)
c.3298T>C (p.Ser1100Pro)
20g.32436163T>GCA408563086ASXL1c.3451T>G (p.Ser1151Ala)
c.3268T>G (p.Ser1090Ala)
n.5804T>G
c.1869+1582T>G (n.1869+1582T>G)
c.3436T>G (p.Ser1146Ala)
c.3448T>G (p.Ser1150Ala)
c.3421T>G (p.Ser1141Ala)
c.3367T>G (p.Ser1123Ala)
c.2767T>G (p.Ser923Ala)
c.3715T>G (p.Ser1239Ala)
c.3712T>G (p.Ser1238Ala)
c.3631T>G (p.Ser1211Ala)
c.3562T>G (p.Ser1188Ala)
c.3430T>G (p.Ser1144Ala)
c.3298T>G (p.Ser1100Ala)
20g.32436164C>ACA408563089ASXL1c.3452C>A (p.Ser1151Tyr)
c.3269C>A (p.Ser1090Tyr)
n.5805C>A
c.1869+1583C>A (n.1869+1583C>A)
c.3437C>A (p.Ser1146Tyr)
c.3449C>A (p.Ser1150Tyr)
c.3422C>A (p.Ser1141Tyr)
c.3368C>A (p.Ser1123Tyr)
c.2768C>A (p.Ser923Tyr)
c.3716C>A (p.Ser1239Tyr)
c.3713C>A (p.Ser1238Tyr)
c.3632C>A (p.Ser1211Tyr)
c.3563C>A (p.Ser1188Tyr)
c.3431C>A (p.Ser1144Tyr)
c.3299C>A (p.Ser1100Tyr)
20g.32436164C=CA2360293566ASXL1c.3452C= (p.Ser1151=)
c.3269C= (p.Ser1090=)
n.5805C=
c.1869+1583C= (n.1869+1583C=)
c.3437C= (p.Ser1146=)
c.3449C= (p.Ser1150=)
c.3422C= (p.Ser1141=)
c.3368C= (p.Ser1123=)
c.2768C= (p.Ser923=)
c.3716C= (p.Ser1239=)
c.3713C= (p.Ser1238=)
c.3632C= (p.Ser1211=)
c.3563C= (p.Ser1188=)
c.3431C= (p.Ser1144=)
c.3299C= (p.Ser1100=)
20g.32436164C>GCA408563087ASXL1c.3452C>G (p.Ser1151Cys)
c.3269C>G (p.Ser1090Cys)
n.5805C>G
c.1869+1583C>G (n.1869+1583C>G)
c.3437C>G (p.Ser1146Cys)
c.3449C>G (p.Ser1150Cys)
c.3422C>G (p.Ser1141Cys)
c.3368C>G (p.Ser1123Cys)
c.2768C>G (p.Ser923Cys)
c.3716C>G (p.Ser1239Cys)
c.3713C>G (p.Ser1238Cys)
c.3632C>G (p.Ser1211Cys)
c.3563C>G (p.Ser1188Cys)
c.3431C>G (p.Ser1144Cys)
c.3299C>G (p.Ser1100Cys)
 ClinVar dbSNP
20g.32436164C>TCA408563088ASXL1c.3452C>T (p.Ser1151Phe)
c.3269C>T (p.Ser1090Phe)
n.5805C>T
c.1869+1583C>T (n.1869+1583C>T)
c.3437C>T (p.Ser1146Phe)
c.3449C>T (p.Ser1150Phe)
c.3422C>T (p.Ser1141Phe)
c.3368C>T (p.Ser1123Phe)
c.2768C>T (p.Ser923Phe)
c.3716C>T (p.Ser1239Phe)
c.3713C>T (p.Ser1238Phe)
c.3632C>T (p.Ser1211Phe)
c.3563C>T (p.Ser1188Phe)
c.3431C>T (p.Ser1144Phe)
c.3299C>T (p.Ser1100Phe)
20g.32436165T>ACA510467258ASXL1c.3453T>A (p.Ser1151=)
c.3270T>A (p.Ser1090=)
n.5806T>A
c.1869+1584T>A (n.1869+1584T>A)
c.3438T>A (p.Ser1146=)
c.3450T>A (p.Ser1150=)
c.3423T>A (p.Ser1141=)
c.3369T>A (p.Ser1123=)
c.2769T>A (p.Ser923=)
c.3717T>A (p.Ser1239=)
c.3714T>A (p.Ser1238=)
c.3633T>A (p.Ser1211=)
c.3564T>A (p.Ser1188=)
c.3432T>A (p.Ser1144=)
c.3300T>A (p.Ser1100=)
20g.32436165T>CCA510467259ASXL1c.3453T>C (p.Ser1151=)
c.3270T>C (p.Ser1090=)
n.5806T>C
c.1869+1584T>C (n.1869+1584T>C)
c.3438T>C (p.Ser1146=)
c.3450T>C (p.Ser1150=)
c.3423T>C (p.Ser1141=)
c.3369T>C (p.Ser1123=)
c.2769T>C (p.Ser923=)
c.3717T>C (p.Ser1239=)
c.3714T>C (p.Ser1238=)
c.3633T>C (p.Ser1211=)
c.3564T>C (p.Ser1188=)
c.3432T>C (p.Ser1144=)
c.3300T>C (p.Ser1100=)
 gnomAD v4
20g.32436165T>GCA510467260ASXL1c.3453T>G (p.Ser1151=)
c.3270T>G (p.Ser1090=)
n.5806T>G
c.1869+1584T>G (n.1869+1584T>G)
c.3438T>G (p.Ser1146=)
c.3450T>G (p.Ser1150=)
c.3423T>G (p.Ser1141=)
c.3369T>G (p.Ser1123=)
c.2769T>G (p.Ser923=)
c.3717T>G (p.Ser1239=)
c.3714T>G (p.Ser1238=)
c.3633T>G (p.Ser1211=)
c.3564T>G (p.Ser1188=)
c.3432T>G (p.Ser1144=)
c.3300T>G (p.Ser1100=)
20g.32436166T>ACA408563090ASXL1c.3454T>A (p.Leu1152Ile)
c.3271T>A (p.Leu1091Ile)
n.5807T>A
c.1869+1585T>A (n.1869+1585T>A)
c.3439T>A (p.Leu1147Ile)
c.3451T>A (p.Leu1151Ile)
c.3424T>A (p.Leu1142Ile)
c.3370T>A (p.Leu1124Ile)
c.2770T>A (p.Leu924Ile)
c.3718T>A (p.Leu1240Ile)
c.3715T>A (p.Leu1239Ile)
c.3634T>A (p.Leu1212Ile)
c.3565T>A (p.Leu1189Ile)
c.3433T>A (p.Leu1145Ile)
c.3301T>A (p.Leu1101Ile)
20g.32436166T>CCA510467261ASXL1c.3454T>C (p.Leu1152=)
c.3271T>C (p.Leu1091=)
n.5807T>C
c.1869+1585T>C (n.1869+1585T>C)
c.3439T>C (p.Leu1147=)
c.3451T>C (p.Leu1151=)
c.3424T>C (p.Leu1142=)
c.3370T>C (p.Leu1124=)
c.2770T>C (p.Leu924=)
c.3718T>C (p.Leu1240=)
c.3715T>C (p.Leu1239=)
c.3634T>C (p.Leu1212=)
c.3565T>C (p.Leu1189=)
c.3433T>C (p.Leu1145=)
c.3301T>C (p.Leu1101=)
20g.32436166T>GCA408563091ASXL1c.3454T>G (p.Leu1152Val)
c.3271T>G (p.Leu1091Val)
n.5807T>G
c.1869+1585T>G (n.1869+1585T>G)
c.3439T>G (p.Leu1147Val)
c.3451T>G (p.Leu1151Val)
c.3424T>G (p.Leu1142Val)
c.3370T>G (p.Leu1124Val)
c.2770T>G (p.Leu924Val)
c.3718T>G (p.Leu1240Val)
c.3715T>G (p.Leu1239Val)
c.3634T>G (p.Leu1212Val)
c.3565T>G (p.Leu1189Val)
c.3433T>G (p.Leu1145Val)
c.3301T>G (p.Leu1101Val)
20g.32436167T>ACA408563092ASXL1c.3455T>A (p.Leu1152Ter)
c.3272T>A (p.Leu1091Ter)
n.5808T>A
c.1869+1586T>A (n.1869+1586T>A)
c.3440T>A (p.Leu1147Ter)
c.3452T>A (p.Leu1151Ter)
c.3425T>A (p.Leu1142Ter)
c.3371T>A (p.Leu1124Ter)
c.2771T>A (p.Leu924Ter)
c.3719T>A (p.Leu1240Ter)
c.3716T>A (p.Leu1239Ter)
c.3635T>A (p.Leu1212Ter)
c.3566T>A (p.Leu1189Ter)
c.3434T>A (p.Leu1145Ter)
c.3302T>A (p.Leu1101Ter)
20g.32436167T>CCA408563093ASXL1c.3455T>C (p.Leu1152Ser)
c.3272T>C (p.Leu1091Ser)
n.5808T>C
c.1869+1586T>C (n.1869+1586T>C)
c.3440T>C (p.Leu1147Ser)
c.3452T>C (p.Leu1151Ser)
c.3425T>C (p.Leu1142Ser)
c.3371T>C (p.Leu1124Ser)
c.2771T>C (p.Leu924Ser)
c.3719T>C (p.Leu1240Ser)
c.3716T>C (p.Leu1239Ser)
c.3635T>C (p.Leu1212Ser)
c.3566T>C (p.Leu1189Ser)
c.3434T>C (p.Leu1145Ser)
c.3302T>C (p.Leu1101Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32436167T>GCA408563094ASXL1c.3455T>G (p.Leu1152Ter)
c.3272T>G (p.Leu1091Ter)
n.5808T>G
c.1869+1586T>G (n.1869+1586T>G)
c.3440T>G (p.Leu1147Ter)
c.3452T>G (p.Leu1151Ter)
c.3425T>G (p.Leu1142Ter)
c.3371T>G (p.Leu1124Ter)
c.2771T>G (p.Leu924Ter)
c.3719T>G (p.Leu1240Ter)
c.3716T>G (p.Leu1239Ter)
c.3635T>G (p.Leu1212Ter)
c.3566T>G (p.Leu1189Ter)
c.3434T>G (p.Leu1145Ter)
c.3302T>G (p.Leu1101Ter)
20g.32436167T=CA2360293567ASXL1c.3455T= (p.Leu1152=)
c.3272T= (p.Leu1091=)
n.5808T=
c.1869+1586T= (n.1869+1586T=)
c.3440T= (p.Leu1147=)
c.3452T= (p.Leu1151=)
c.3425T= (p.Leu1142=)
c.3371T= (p.Leu1124=)
c.2771T= (p.Leu924=)
c.3719T= (p.Leu1240=)
c.3716T= (p.Leu1239=)
c.3635T= (p.Leu1212=)
c.3566T= (p.Leu1189=)
c.3434T= (p.Leu1145=)
c.3302T= (p.Leu1101=)
20g.32436168A>CCA408563095ASXL1c.3456A>C (p.Leu1152Phe)
c.3273A>C (p.Leu1091Phe)
n.5809A>C
c.1869+1587A>C (n.1869+1587A>C)
c.3441A>C (p.Leu1147Phe)
c.3453A>C (p.Leu1151Phe)
c.3426A>C (p.Leu1142Phe)
c.3372A>C (p.Leu1124Phe)
c.2772A>C (p.Leu924Phe)
c.3720A>C (p.Leu1240Phe)
c.3717A>C (p.Leu1239Phe)
c.3636A>C (p.Leu1212Phe)
c.3567A>C (p.Leu1189Phe)
c.3435A>C (p.Leu1145Phe)
c.3303A>C (p.Leu1101Phe)
20g.32436168A>GCA510467262ASXL1c.3456A>G (p.Leu1152=)
c.3273A>G (p.Leu1091=)
n.5809A>G
c.1869+1587A>G (n.1869+1587A>G)
c.3441A>G (p.Leu1147=)
c.3453A>G (p.Leu1151=)
c.3426A>G (p.Leu1142=)
c.3372A>G (p.Leu1124=)
c.2772A>G (p.Leu924=)
c.3720A>G (p.Leu1240=)
c.3717A>G (p.Leu1239=)
c.3636A>G (p.Leu1212=)
c.3567A>G (p.Leu1189=)
c.3435A>G (p.Leu1145=)
c.3303A>G (p.Leu1101=)
20g.32436168A>TCA408563096ASXL1c.3456A>T (p.Leu1152Phe)
c.3273A>T (p.Leu1091Phe)
n.5809A>T
c.1869+1587A>T (n.1869+1587A>T)
c.3441A>T (p.Leu1147Phe)
c.3453A>T (p.Leu1151Phe)
c.3426A>T (p.Leu1142Phe)
c.3372A>T (p.Leu1124Phe)
c.2772A>T (p.Leu924Phe)
c.3720A>T (p.Leu1240Phe)
c.3717A>T (p.Leu1239Phe)
c.3636A>T (p.Leu1212Phe)
c.3567A>T (p.Leu1189Phe)
c.3435A>T (p.Leu1145Phe)
c.3303A>T (p.Leu1101Phe)
20g.32436169C>ACA408563097ASXL1c.3457C>A (p.His1153Asn)
c.3274C>A (p.His1092Asn)
n.5810C>A
c.1869+1588C>A (n.1869+1588C>A)
c.3442C>A (p.His1148Asn)
c.3454C>A (p.His1152Asn)
c.3427C>A (p.His1143Asn)
c.3373C>A (p.His1125Asn)
c.2773C>A (p.His925Asn)
c.3721C>A (p.His1241Asn)
c.3718C>A (p.His1240Asn)
c.3637C>A (p.His1213Asn)
c.3568C>A (p.His1190Asn)
c.3436C>A (p.His1146Asn)
c.3304C>A (p.His1102Asn)
20g.32436169C>GCA408563098ASXL1c.3457C>G (p.His1153Asp)
c.3274C>G (p.His1092Asp)
n.5810C>G
c.1869+1588C>G (n.1869+1588C>G)
c.3442C>G (p.His1148Asp)
c.3454C>G (p.His1152Asp)
c.3427C>G (p.His1143Asp)
c.3373C>G (p.His1125Asp)
c.2773C>G (p.His925Asp)
c.3721C>G (p.His1241Asp)
c.3718C>G (p.His1240Asp)
c.3637C>G (p.His1213Asp)
c.3568C>G (p.His1190Asp)
c.3436C>G (p.His1146Asp)
c.3304C>G (p.His1102Asp)
20g.32436169C>TCA408563099ASXL1c.3457C>T (p.His1153Tyr)
c.3274C>T (p.His1092Tyr)
n.5810C>T
c.1869+1588C>T (n.1869+1588C>T)
c.3442C>T (p.His1148Tyr)
c.3454C>T (p.His1152Tyr)
c.3427C>T (p.His1143Tyr)
c.3373C>T (p.His1125Tyr)
c.2773C>T (p.His925Tyr)
c.3721C>T (p.His1241Tyr)
c.3718C>T (p.His1240Tyr)
c.3637C>T (p.His1213Tyr)
c.3568C>T (p.His1190Tyr)
c.3436C>T (p.His1146Tyr)
c.3304C>T (p.His1102Tyr)
20g.32436170delCA645612964ASXL1c.3458del (p.His1153LeufsTer18)
c.3275del (p.His1092LeufsTer18)
n.5811del
c.1869+1589del (n.1869+1589del)
c.3443del (p.His1148LeufsTer18)
c.3455del (p.His1152LeufsTer18)
c.3428del (p.His1143LeufsTer18)
c.3374del (p.His1125LeufsTer18)
c.2774del (p.His925LeufsTer18)
c.3722del (p.His1241LeufsTer18)
c.3719del (p.His1240LeufsTer18)
c.3638del (p.His1213LeufsTer18)
c.3569del (p.His1190LeufsTer18)
c.3437del (p.His1146LeufsTer18)
c.3305del (p.His1102LeufsTer18)
 COSMIC
20g.32436170A=CA2360293568ASXL1c.3458A= (p.His1153=)
c.3275A= (p.His1092=)
n.5811A=
c.1869+1589A= (n.1869+1589A=)
c.3443A= (p.His1148=)
c.3455A= (p.His1152=)
c.3428A= (p.His1143=)
c.3374A= (p.His1125=)
c.2774A= (p.His925=)
c.3722A= (p.His1241=)
c.3719A= (p.His1240=)
c.3638A= (p.His1213=)
c.3569A= (p.His1190=)
c.3437A= (p.His1146=)
c.3305A= (p.His1102=)
20g.32436170A>CCA408563100ASXL1c.3458A>C (p.His1153Pro)
c.3275A>C (p.His1092Pro)
n.5811A>C
c.1869+1589A>C (n.1869+1589A>C)
c.3443A>C (p.His1148Pro)
c.3455A>C (p.His1152Pro)
c.3428A>C (p.His1143Pro)
c.3374A>C (p.His1125Pro)
c.2774A>C (p.His925Pro)
c.3722A>C (p.His1241Pro)
c.3719A>C (p.His1240Pro)
c.3638A>C (p.His1213Pro)
c.3569A>C (p.His1190Pro)
c.3437A>C (p.His1146Pro)
c.3305A>C (p.His1102Pro)
20g.32436170A>GCA9808830ASXL1c.3458A>G (p.His1153Arg)
c.3275A>G (p.His1092Arg)
n.5811A>G
c.1869+1589A>G (n.1869+1589A>G)
c.3443A>G (p.His1148Arg)
c.3455A>G (p.His1152Arg)
c.3428A>G (p.His1143Arg)
c.3374A>G (p.His1125Arg)
c.2774A>G (p.His925Arg)
c.3722A>G (p.His1241Arg)
c.3719A>G (p.His1240Arg)
c.3638A>G (p.His1213Arg)
c.3569A>G (p.His1190Arg)
c.3437A>G (p.His1146Arg)
c.3305A>G (p.His1102Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436170A>TCA408563101ASXL1c.3458A>T (p.His1153Leu)
c.3275A>T (p.His1092Leu)
n.5811A>T
c.1869+1589A>T (n.1869+1589A>T)
c.3443A>T (p.His1148Leu)
c.3455A>T (p.His1152Leu)
c.3428A>T (p.His1143Leu)
c.3374A>T (p.His1125Leu)
c.2774A>T (p.His925Leu)
c.3722A>T (p.His1241Leu)
c.3719A>T (p.His1240Leu)
c.3638A>T (p.His1213Leu)
c.3569A>T (p.His1190Leu)
c.3437A>T (p.His1146Leu)
c.3305A>T (p.His1102Leu)
 gnomAD v4
20g.32436171T>ACA408563103ASXL1c.3459T>A (p.His1153Gln)
c.3276T>A (p.His1092Gln)
n.5812T>A
c.1869+1590T>A (n.1869+1590T>A)
c.3444T>A (p.His1148Gln)
c.3456T>A (p.His1152Gln)
c.3429T>A (p.His1143Gln)
c.3375T>A (p.His1125Gln)
c.2775T>A (p.His925Gln)
c.3723T>A (p.His1241Gln)
c.3720T>A (p.His1240Gln)
c.3639T>A (p.His1213Gln)
c.3570T>A (p.His1190Gln)
c.3438T>A (p.His1146Gln)
c.3306T>A (p.His1102Gln)
20g.32436171T>CCA510467263ASXL1c.3459T>C (p.His1153=)
c.3276T>C (p.His1092=)
n.5812T>C
c.1869+1590T>C (n.1869+1590T>C)
c.3444T>C (p.His1148=)
c.3456T>C (p.His1152=)
c.3429T>C (p.His1143=)
c.3375T>C (p.His1125=)
c.2775T>C (p.His925=)
c.3723T>C (p.His1241=)
c.3720T>C (p.His1240=)
c.3639T>C (p.His1213=)
c.3570T>C (p.His1190=)
c.3438T>C (p.His1146=)
c.3306T>C (p.His1102=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436171T>GCA408563102ASXL1c.3459T>G (p.His1153Gln)
c.3276T>G (p.His1092Gln)
n.5812T>G
c.1869+1590T>G (n.1869+1590T>G)
c.3444T>G (p.His1148Gln)
c.3456T>G (p.His1152Gln)
c.3429T>G (p.His1143Gln)
c.3375T>G (p.His1125Gln)
c.2775T>G (p.His925Gln)
c.3723T>G (p.His1241Gln)
c.3720T>G (p.His1240Gln)
c.3639T>G (p.His1213Gln)
c.3570T>G (p.His1190Gln)
c.3438T>G (p.His1146Gln)
c.3306T>G (p.His1102Gln)
20g.32436171T=CA2360293569ASXL1c.3459T= (p.His1153=)
c.3276T= (p.His1092=)
n.5812T=
c.1869+1590T= (n.1869+1590T=)
c.3444T= (p.His1148=)
c.3456T= (p.His1152=)
c.3429T= (p.His1143=)
c.3375T= (p.His1125=)
c.2775T= (p.His925=)
c.3723T= (p.His1241=)
c.3720T= (p.His1240=)
c.3639T= (p.His1213=)
c.3570T= (p.His1190=)
c.3438T= (p.His1146=)
c.3306T= (p.His1102=)
20g.32436172G>ACA408563104ASXL1c.3460G>A (p.Gly1154Ser)
c.3277G>A (p.Gly1093Ser)
n.5813G>A
c.1869+1591G>A (n.1869+1591G>A)
c.3445G>A (p.Gly1149Ser)
c.3457G>A (p.Gly1153Ser)
c.3430G>A (p.Gly1144Ser)
c.3376G>A (p.Gly1126Ser)
c.2776G>A (p.Gly926Ser)
c.3724G>A (p.Gly1242Ser)
c.3721G>A (p.Gly1241Ser)
c.3640G>A (p.Gly1214Ser)
c.3571G>A (p.Gly1191Ser)
c.3439G>A (p.Gly1147Ser)
c.3307G>A (p.Gly1103Ser)
 ClinVar dbSNP gnomAD v4
20g.32436172G>CCA9808831ASXL1c.3460G>C (p.Gly1154Arg)
c.3277G>C (p.Gly1093Arg)
n.5813G>C
c.1869+1591G>C (n.1869+1591G>C)
c.3445G>C (p.Gly1149Arg)
c.3457G>C (p.Gly1153Arg)
c.3430G>C (p.Gly1144Arg)
c.3376G>C (p.Gly1126Arg)
c.2776G>C (p.Gly926Arg)
c.3724G>C (p.Gly1242Arg)
c.3721G>C (p.Gly1241Arg)
c.3640G>C (p.Gly1214Arg)
c.3571G>C (p.Gly1191Arg)
c.3439G>C (p.Gly1147Arg)
c.3307G>C (p.Gly1103Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436172G=CA2360293570ASXL1c.3460G= (p.Gly1154=)
c.3277G= (p.Gly1093=)
n.5813G=
c.1869+1591G= (n.1869+1591G=)
c.3445G= (p.Gly1149=)
c.3457G= (p.Gly1153=)
c.3430G= (p.Gly1144=)
c.3376G= (p.Gly1126=)
c.2776G= (p.Gly926=)
c.3724G= (p.Gly1242=)
c.3721G= (p.Gly1241=)
c.3640G= (p.Gly1214=)
c.3571G= (p.Gly1191=)
c.3439G= (p.Gly1147=)
c.3307G= (p.Gly1103=)
20g.32436172G>TCA408563105ASXL1c.3460G>T (p.Gly1154Cys)
c.3277G>T (p.Gly1093Cys)
n.5813G>T
c.1869+1591G>T (n.1869+1591G>T)
c.3445G>T (p.Gly1149Cys)
c.3457G>T (p.Gly1153Cys)
c.3430G>T (p.Gly1144Cys)
c.3376G>T (p.Gly1126Cys)
c.2776G>T (p.Gly926Cys)
c.3724G>T (p.Gly1242Cys)
c.3721G>T (p.Gly1241Cys)
c.3640G>T (p.Gly1214Cys)
c.3571G>T (p.Gly1191Cys)
c.3439G>T (p.Gly1147Cys)
c.3307G>T (p.Gly1103Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436173G>ACA408563106ASXL1c.3461G>A (p.Gly1154Asp)
c.3278G>A (p.Gly1093Asp)
n.5814G>A
c.1869+1592G>A (n.1869+1592G>A)
c.3446G>A (p.Gly1149Asp)
c.3458G>A (p.Gly1153Asp)
c.3431G>A (p.Gly1144Asp)
c.3377G>A (p.Gly1126Asp)
c.2777G>A (p.Gly926Asp)
c.3725G>A (p.Gly1242Asp)
c.3722G>A (p.Gly1241Asp)
c.3641G>A (p.Gly1214Asp)
c.3572G>A (p.Gly1191Asp)
c.3440G>A (p.Gly1147Asp)
c.3308G>A (p.Gly1103Asp)
20g.32436173G>CCA408563107ASXL1c.3461G>C (p.Gly1154Ala)
c.3278G>C (p.Gly1093Ala)
n.5814G>C
c.1869+1592G>C (n.1869+1592G>C)
c.3446G>C (p.Gly1149Ala)
c.3458G>C (p.Gly1153Ala)
c.3431G>C (p.Gly1144Ala)
c.3377G>C (p.Gly1126Ala)
c.2777G>C (p.Gly926Ala)
c.3725G>C (p.Gly1242Ala)
c.3722G>C (p.Gly1241Ala)
c.3641G>C (p.Gly1214Ala)
c.3572G>C (p.Gly1191Ala)
c.3440G>C (p.Gly1147Ala)
c.3308G>C (p.Gly1103Ala)
20g.32436173G>TCA408563108ASXL1c.3461G>T (p.Gly1154Val)
c.3278G>T (p.Gly1093Val)
n.5814G>T
c.1869+1592G>T (n.1869+1592G>T)
c.3446G>T (p.Gly1149Val)
c.3458G>T (p.Gly1153Val)
c.3431G>T (p.Gly1144Val)
c.3377G>T (p.Gly1126Val)
c.2777G>T (p.Gly926Val)
c.3725G>T (p.Gly1242Val)
c.3722G>T (p.Gly1241Val)
c.3641G>T (p.Gly1214Val)
c.3572G>T (p.Gly1191Val)
c.3440G>T (p.Gly1147Val)
c.3308G>T (p.Gly1103Val)
20g.32436174T>ACA510467266ASXL1c.3462T>A (p.Gly1154=)
c.3279T>A (p.Gly1093=)
n.5815T>A
c.1869+1593T>A (n.1869+1593T>A)
c.3447T>A (p.Gly1149=)
c.3459T>A (p.Gly1153=)
c.3432T>A (p.Gly1144=)
c.3378T>A (p.Gly1126=)
c.2778T>A (p.Gly926=)
c.3726T>A (p.Gly1242=)
c.3723T>A (p.Gly1241=)
c.3642T>A (p.Gly1214=)
c.3573T>A (p.Gly1191=)
c.3441T>A (p.Gly1147=)
c.3309T>A (p.Gly1103=)
 dbSNP
20g.32436174T>CCA510467265ASXL1c.3462T>C (p.Gly1154=)
c.3279T>C (p.Gly1093=)
n.5815T>C
c.1869+1593T>C (n.1869+1593T>C)
c.3447T>C (p.Gly1149=)
c.3459T>C (p.Gly1153=)
c.3432T>C (p.Gly1144=)
c.3378T>C (p.Gly1126=)
c.2778T>C (p.Gly926=)
c.3726T>C (p.Gly1242=)
c.3723T>C (p.Gly1241=)
c.3642T>C (p.Gly1214=)
c.3573T>C (p.Gly1191=)
c.3441T>C (p.Gly1147=)
c.3309T>C (p.Gly1103=)
20g.32436174T>GCA510467264ASXL1c.3462T>G (p.Gly1154=)
c.3279T>G (p.Gly1093=)
n.5815T>G
c.1869+1593T>G (n.1869+1593T>G)
c.3447T>G (p.Gly1149=)
c.3459T>G (p.Gly1153=)
c.3432T>G (p.Gly1144=)
c.3378T>G (p.Gly1126=)
c.2778T>G (p.Gly926=)
c.3726T>G (p.Gly1242=)
c.3723T>G (p.Gly1241=)
c.3642T>G (p.Gly1214=)
c.3573T>G (p.Gly1191=)
c.3441T>G (p.Gly1147=)
c.3309T>G (p.Gly1103=)
 gnomAD v4
20g.32436175C>ACA9808832ASXL1c.3463C>A (p.Leu1155Ile)
c.3280C>A (p.Leu1094Ile)
n.5816C>A
c.1869+1594C>A (n.1869+1594C>A)
c.3448C>A (p.Leu1150Ile)
c.3460C>A (p.Leu1154Ile)
c.3433C>A (p.Leu1145Ile)
c.3379C>A (p.Leu1127Ile)
c.2779C>A (p.Leu927Ile)
c.3727C>A (p.Leu1243Ile)
c.3724C>A (p.Leu1242Ile)
c.3643C>A (p.Leu1215Ile)
c.3574C>A (p.Leu1192Ile)
c.3442C>A (p.Leu1148Ile)
c.3310C>A (p.Leu1104Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436175C=CA2360293571ASXL1c.3463C= (p.Leu1155=)
c.3280C= (p.Leu1094=)
n.5816C=
c.1869+1594C= (n.1869+1594C=)
c.3448C= (p.Leu1150=)
c.3460C= (p.Leu1154=)
c.3433C= (p.Leu1145=)
c.3379C= (p.Leu1127=)
c.2779C= (p.Leu927=)
c.3727C= (p.Leu1243=)
c.3724C= (p.Leu1242=)
c.3643C= (p.Leu1215=)
c.3574C= (p.Leu1192=)
c.3442C= (p.Leu1148=)
c.3310C= (p.Leu1104=)
20g.32436175C>GCA408563109ASXL1c.3463C>G (p.Leu1155Val)
c.3280C>G (p.Leu1094Val)
n.5816C>G
c.1869+1594C>G (n.1869+1594C>G)
c.3448C>G (p.Leu1150Val)
c.3460C>G (p.Leu1154Val)
c.3433C>G (p.Leu1145Val)
c.3379C>G (p.Leu1127Val)
c.2779C>G (p.Leu927Val)
c.3727C>G (p.Leu1243Val)
c.3724C>G (p.Leu1242Val)
c.3643C>G (p.Leu1215Val)
c.3574C>G (p.Leu1192Val)
c.3442C>G (p.Leu1148Val)
c.3310C>G (p.Leu1104Val)
20g.32436175C>TCA408563110ASXL1c.3463C>T (p.Leu1155Phe)
c.3280C>T (p.Leu1094Phe)
n.5816C>T
c.1869+1594C>T (n.1869+1594C>T)
c.3448C>T (p.Leu1150Phe)
c.3460C>T (p.Leu1154Phe)
c.3433C>T (p.Leu1145Phe)
c.3379C>T (p.Leu1127Phe)
c.2779C>T (p.Leu927Phe)
c.3727C>T (p.Leu1243Phe)
c.3724C>T (p.Leu1242Phe)
c.3643C>T (p.Leu1215Phe)
c.3574C>T (p.Leu1192Phe)
c.3442C>T (p.Leu1148Phe)
c.3310C>T (p.Leu1104Phe)
20g.32436176T>ACA408563111ASXL1c.3464T>A (p.Leu1155His)
c.3281T>A (p.Leu1094His)
n.5817T>A
c.1869+1595T>A (n.1869+1595T>A)
c.3449T>A (p.Leu1150His)
c.3461T>A (p.Leu1154His)
c.3434T>A (p.Leu1145His)
c.3380T>A (p.Leu1127His)
c.2780T>A (p.Leu927His)
c.3728T>A (p.Leu1243His)
c.3725T>A (p.Leu1242His)
c.3644T>A (p.Leu1215His)
c.3575T>A (p.Leu1192His)
c.3443T>A (p.Leu1148His)
c.3311T>A (p.Leu1104His)
20g.32436176T>CCA408563112ASXL1c.3464T>C (p.Leu1155Pro)
c.3281T>C (p.Leu1094Pro)
n.5817T>C
c.1869+1595T>C (n.1869+1595T>C)
c.3449T>C (p.Leu1150Pro)
c.3461T>C (p.Leu1154Pro)
c.3434T>C (p.Leu1145Pro)
c.3380T>C (p.Leu1127Pro)
c.2780T>C (p.Leu927Pro)
c.3728T>C (p.Leu1243Pro)
c.3725T>C (p.Leu1242Pro)
c.3644T>C (p.Leu1215Pro)
c.3575T>C (p.Leu1192Pro)
c.3443T>C (p.Leu1148Pro)
c.3311T>C (p.Leu1104Pro)
20g.32436176T>GCA408563113ASXL1c.3464T>G (p.Leu1155Arg)
c.3281T>G (p.Leu1094Arg)
n.5817T>G
c.1869+1595T>G (n.1869+1595T>G)
c.3449T>G (p.Leu1150Arg)
c.3461T>G (p.Leu1154Arg)
c.3434T>G (p.Leu1145Arg)
c.3380T>G (p.Leu1127Arg)
c.2780T>G (p.Leu927Arg)
c.3728T>G (p.Leu1243Arg)
c.3725T>G (p.Leu1242Arg)
c.3644T>G (p.Leu1215Arg)
c.3575T>G (p.Leu1192Arg)
c.3443T>G (p.Leu1148Arg)
c.3311T>G (p.Leu1104Arg)
20g.32436177T>ACA510467268ASXL1c.3465T>A (p.Leu1155=)
c.3282T>A (p.Leu1094=)
n.5818T>A
c.1869+1596T>A (n.1869+1596T>A)
c.3450T>A (p.Leu1150=)
c.3462T>A (p.Leu1154=)
c.3435T>A (p.Leu1145=)
c.3381T>A (p.Leu1127=)
c.2781T>A (p.Leu927=)
c.3729T>A (p.Leu1243=)
c.3726T>A (p.Leu1242=)
c.3645T>A (p.Leu1215=)
c.3576T>A (p.Leu1192=)
c.3444T>A (p.Leu1148=)
c.3312T>A (p.Leu1104=)
20g.32436177T>CCA9808833ASXL1c.3465T>C (p.Leu1155=)
c.3282T>C (p.Leu1094=)
n.5818T>C
c.1869+1596T>C (n.1869+1596T>C)
c.3450T>C (p.Leu1150=)
c.3462T>C (p.Leu1154=)
c.3435T>C (p.Leu1145=)
c.3381T>C (p.Leu1127=)
c.2781T>C (p.Leu927=)
c.3729T>C (p.Leu1243=)
c.3726T>C (p.Leu1242=)
c.3645T>C (p.Leu1215=)
c.3576T>C (p.Leu1192=)
c.3444T>C (p.Leu1148=)
c.3312T>C (p.Leu1104=)
 dbSNP ExAC
20g.32436177T>GCA510467267ASXL1c.3465T>G (p.Leu1155=)
c.3282T>G (p.Leu1094=)
n.5818T>G
c.1869+1596T>G (n.1869+1596T>G)
c.3450T>G (p.Leu1150=)
c.3462T>G (p.Leu1154=)
c.3435T>G (p.Leu1145=)
c.3381T>G (p.Leu1127=)
c.2781T>G (p.Leu927=)
c.3729T>G (p.Leu1243=)
c.3726T>G (p.Leu1242=)
c.3645T>G (p.Leu1215=)
c.3576T>G (p.Leu1192=)
c.3444T>G (p.Leu1148=)
c.3312T>G (p.Leu1104=)
20g.32436177T=CA2360293572ASXL1c.3465T= (p.Leu1155=)
c.3282T= (p.Leu1094=)
n.5818T=
c.1869+1596T= (n.1869+1596T=)
c.3450T= (p.Leu1150=)
c.3462T= (p.Leu1154=)
c.3435T= (p.Leu1145=)
c.3381T= (p.Leu1127=)
c.2781T= (p.Leu927=)
c.3729T= (p.Leu1243=)
c.3726T= (p.Leu1242=)
c.3645T= (p.Leu1215=)
c.3576T= (p.Leu1192=)
c.3444T= (p.Leu1148=)
c.3312T= (p.Leu1104=)
20g.32436178G>ACA408563114ASXL1c.3466G>A (p.Gly1156Arg)
c.3283G>A (p.Gly1095Arg)
n.5819G>A
c.1869+1597G>A (n.1869+1597G>A)
c.3451G>A (p.Gly1151Arg)
c.3463G>A (p.Gly1155Arg)
c.3436G>A (p.Gly1146Arg)
c.3382G>A (p.Gly1128Arg)
c.2782G>A (p.Gly928Arg)
c.3730G>A (p.Gly1244Arg)
c.3727G>A (p.Gly1243Arg)
c.3646G>A (p.Gly1216Arg)
c.3577G>A (p.Gly1193Arg)
c.3445G>A (p.Gly1149Arg)
c.3313G>A (p.Gly1105Arg)
 dbSNP
20g.32436178G>CCA408563116ASXL1c.3466G>C (p.Gly1156Arg)
c.3283G>C (p.Gly1095Arg)
n.5819G>C
c.1869+1597G>C (n.1869+1597G>C)
c.3451G>C (p.Gly1151Arg)
c.3463G>C (p.Gly1155Arg)
c.3436G>C (p.Gly1146Arg)
c.3382G>C (p.Gly1128Arg)
c.2782G>C (p.Gly928Arg)
c.3730G>C (p.Gly1244Arg)
c.3727G>C (p.Gly1243Arg)
c.3646G>C (p.Gly1216Arg)
c.3577G>C (p.Gly1193Arg)
c.3445G>C (p.Gly1149Arg)
c.3313G>C (p.Gly1105Arg)
20g.32436178G>TCA408563115ASXL1c.3466G>T (p.Gly1156Ter)
c.3283G>T (p.Gly1095Ter)
n.5819G>T
c.1869+1597G>T (n.1869+1597G>T)
c.3451G>T (p.Gly1151Ter)
c.3463G>T (p.Gly1155Ter)
c.3436G>T (p.Gly1146Ter)
c.3382G>T (p.Gly1128Ter)
c.2782G>T (p.Gly928Ter)
c.3730G>T (p.Gly1244Ter)
c.3727G>T (p.Gly1243Ter)
c.3646G>T (p.Gly1216Ter)
c.3577G>T (p.Gly1193Ter)
c.3445G>T (p.Gly1149Ter)
c.3313G>T (p.Gly1105Ter)
20g.32436179G>ACA408563117ASXL1c.3467G>A (p.Gly1156Glu)
c.3284G>A (p.Gly1095Glu)
n.5820G>A
c.1869+1598G>A (n.1869+1598G>A)
c.3452G>A (p.Gly1151Glu)
c.3464G>A (p.Gly1155Glu)
c.3437G>A (p.Gly1146Glu)
c.3383G>A (p.Gly1128Glu)
c.2783G>A (p.Gly928Glu)
c.3731G>A (p.Gly1244Glu)
c.3728G>A (p.Gly1243Glu)
c.3647G>A (p.Gly1216Glu)
c.3578G>A (p.Gly1193Glu)
c.3446G>A (p.Gly1149Glu)
c.3314G>A (p.Gly1105Glu)
 dbSNP
20g.32436179G>CCA408563119ASXL1c.3467G>C (p.Gly1156Ala)
c.3284G>C (p.Gly1095Ala)
n.5820G>C
c.1869+1598G>C (n.1869+1598G>C)
c.3452G>C (p.Gly1151Ala)
c.3464G>C (p.Gly1155Ala)
c.3437G>C (p.Gly1146Ala)
c.3383G>C (p.Gly1128Ala)
c.2783G>C (p.Gly928Ala)
c.3731G>C (p.Gly1244Ala)
c.3728G>C (p.Gly1243Ala)
c.3647G>C (p.Gly1216Ala)
c.3578G>C (p.Gly1193Ala)
c.3446G>C (p.Gly1149Ala)
c.3314G>C (p.Gly1105Ala)
20g.32436179G=CA2360293573ASXL1c.3467G= (p.Gly1156=)
c.3284G= (p.Gly1095=)
n.5820G=
c.1869+1598G= (n.1869+1598G=)
c.3452G= (p.Gly1151=)
c.3464G= (p.Gly1155=)
c.3437G= (p.Gly1146=)
c.3383G= (p.Gly1128=)
c.2783G= (p.Gly928=)
c.3731G= (p.Gly1244=)
c.3728G= (p.Gly1243=)
c.3647G= (p.Gly1216=)
c.3578G= (p.Gly1193=)
c.3446G= (p.Gly1149=)
c.3314G= (p.Gly1105=)
20g.32436179G>TCA408563118ASXL1c.3467G>T (p.Gly1156Val)
c.3284G>T (p.Gly1095Val)
n.5820G>T
c.1869+1598G>T (n.1869+1598G>T)
c.3452G>T (p.Gly1151Val)
c.3464G>T (p.Gly1155Val)
c.3437G>T (p.Gly1146Val)
c.3383G>T (p.Gly1128Val)
c.2783G>T (p.Gly928Val)
c.3731G>T (p.Gly1244Val)
c.3728G>T (p.Gly1243Val)
c.3647G>T (p.Gly1216Val)
c.3578G>T (p.Gly1193Val)
c.3446G>T (p.Gly1149Val)
c.3314G>T (p.Gly1105Val)
20g.32436180A>CCA510467269ASXL1c.3468A>C (p.Gly1156=)
c.3285A>C (p.Gly1095=)
n.5821A>C
c.1869+1599A>C (n.1869+1599A>C)
c.3453A>C (p.Gly1151=)
c.3465A>C (p.Gly1155=)
c.3438A>C (p.Gly1146=)
c.3384A>C (p.Gly1128=)
c.2784A>C (p.Gly928=)
c.3732A>C (p.Gly1244=)
c.3729A>C (p.Gly1243=)
c.3648A>C (p.Gly1216=)
c.3579A>C (p.Gly1193=)
c.3447A>C (p.Gly1149=)
c.3315A>C (p.Gly1105=)
20g.32436180A>GCA510467271ASXL1c.3468A>G (p.Gly1156=)
c.3285A>G (p.Gly1095=)
n.5821A>G
c.1869+1599A>G (n.1869+1599A>G)
c.3453A>G (p.Gly1151=)
c.3465A>G (p.Gly1155=)
c.3438A>G (p.Gly1146=)
c.3384A>G (p.Gly1128=)
c.2784A>G (p.Gly928=)
c.3732A>G (p.Gly1244=)
c.3729A>G (p.Gly1243=)
c.3648A>G (p.Gly1216=)
c.3579A>G (p.Gly1193=)
c.3447A>G (p.Gly1149=)
c.3315A>G (p.Gly1105=)
20g.32436180A>TCA510467270ASXL1c.3468A>T (p.Gly1156=)
c.3285A>T (p.Gly1095=)
n.5821A>T
c.1869+1599A>T (n.1869+1599A>T)
c.3453A>T (p.Gly1151=)
c.3465A>T (p.Gly1155=)
c.3438A>T (p.Gly1146=)
c.3384A>T (p.Gly1128=)
c.2784A>T (p.Gly928=)
c.3732A>T (p.Gly1244=)
c.3729A>T (p.Gly1243=)
c.3648A>T (p.Gly1216=)
c.3579A>T (p.Gly1193=)
c.3447A>T (p.Gly1149=)
c.3315A>T (p.Gly1105=)
20g.32436185dupCA920201482ASXL1c.3473dup (p.Asn1158LysfsTer6)
c.3290dup (p.Asn1097LysfsTer6)
n.5826dup
c.1869+1604dup (n.1869+1604dup)
c.3458dup (p.Asn1153LysfsTer6)
c.3470dup (p.Asn1157LysfsTer6)
c.3443dup (p.Asn1148LysfsTer6)
c.3389dup (p.Asn1130LysfsTer6)
c.2789dup (p.Asn930LysfsTer6)
c.3737dup (p.Asn1246LysfsTer6)
c.3734dup (p.Asn1245LysfsTer6)
c.3653dup (p.Asn1218LysfsTer6)
c.3584dup (p.Asn1195LysfsTer6)
c.3452dup (p.Asn1151LysfsTer6)
c.3320dup (p.Asn1107LysfsTer6)
 dbSNP
20g.32436185delCA2736476292ASXL1c.3473del (p.Asn1158ThrfsTer13)
c.3290del (p.Asn1097ThrfsTer13)
n.5826del
c.1869+1604del (n.1869+1604del)
c.3458del (p.Asn1153ThrfsTer13)
c.3470del (p.Asn1157ThrfsTer13)
c.3443del (p.Asn1148ThrfsTer13)
c.3389del (p.Asn1130ThrfsTer13)
c.2789del (p.Asn930ThrfsTer13)
c.3737del (p.Asn1246ThrfsTer13)
c.3734del (p.Asn1245ThrfsTer13)
c.3653del (p.Asn1218ThrfsTer13)
c.3584del (p.Asn1195ThrfsTer13)
c.3452del (p.Asn1151ThrfsTer13)
c.3320del (p.Asn1107ThrfsTer13)
 dbSNP
20g.32436181A=CA2360293574ASXL1c.3469A= (p.Lys1157=)
c.3286A= (p.Lys1096=)
n.5822A=
c.1869+1600A= (n.1869+1600A=)
c.3454A= (p.Lys1152=)
c.3466A= (p.Lys1156=)
c.3439A= (p.Lys1147=)
c.3385A= (p.Lys1129=)
c.2785A= (p.Lys929=)
c.3733A= (p.Lys1245=)
c.3730A= (p.Lys1244=)
c.3649A= (p.Lys1217=)
c.3580A= (p.Lys1194=)
c.3448A= (p.Lys1150=)
c.3316A= (p.Lys1106=)
20g.32436181A>CCA408563120ASXL1c.3469A>C (p.Lys1157Gln)
c.3286A>C (p.Lys1096Gln)
n.5822A>C
c.1869+1600A>C (n.1869+1600A>C)
c.3454A>C (p.Lys1152Gln)
c.3466A>C (p.Lys1156Gln)
c.3439A>C (p.Lys1147Gln)
c.3385A>C (p.Lys1129Gln)
c.2785A>C (p.Lys929Gln)
c.3733A>C (p.Lys1245Gln)
c.3730A>C (p.Lys1244Gln)
c.3649A>C (p.Lys1217Gln)
c.3580A>C (p.Lys1194Gln)
c.3448A>C (p.Lys1150Gln)
c.3316A>C (p.Lys1106Gln)
20g.32436181A>GCA9808834ASXL1c.3469A>G (p.Lys1157Glu)
c.3286A>G (p.Lys1096Glu)
n.5822A>G
c.1869+1600A>G (n.1869+1600A>G)
c.3454A>G (p.Lys1152Glu)
c.3466A>G (p.Lys1156Glu)
c.3439A>G (p.Lys1147Glu)
c.3385A>G (p.Lys1129Glu)
c.2785A>G (p.Lys929Glu)
c.3733A>G (p.Lys1245Glu)
c.3730A>G (p.Lys1244Glu)
c.3649A>G (p.Lys1217Glu)
c.3580A>G (p.Lys1194Glu)
c.3448A>G (p.Lys1150Glu)
c.3316A>G (p.Lys1106Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436181A>TCA408563121ASXL1c.3469A>T (p.Lys1157Ter)
c.3286A>T (p.Lys1096Ter)
n.5822A>T
c.1869+1600A>T (n.1869+1600A>T)
c.3454A>T (p.Lys1152Ter)
c.3466A>T (p.Lys1156Ter)
c.3439A>T (p.Lys1147Ter)
c.3385A>T (p.Lys1129Ter)
c.2785A>T (p.Lys929Ter)
c.3733A>T (p.Lys1245Ter)
c.3730A>T (p.Lys1244Ter)
c.3649A>T (p.Lys1217Ter)
c.3580A>T (p.Lys1194Ter)
c.3448A>T (p.Lys1150Ter)
c.3316A>T (p.Lys1106Ter)
20g.32436182A=CA2360293575ASXL1c.3470A= (p.Lys1157=)
c.3287A= (p.Lys1096=)
n.5823A=
c.1869+1601A= (n.1869+1601A=)
c.3455A= (p.Lys1152=)
c.3467A= (p.Lys1156=)
c.3440A= (p.Lys1147=)
c.3386A= (p.Lys1129=)
c.2786A= (p.Lys929=)
c.3734A= (p.Lys1245=)
c.3731A= (p.Lys1244=)
c.3650A= (p.Lys1217=)
c.3581A= (p.Lys1194=)
c.3449A= (p.Lys1150=)
c.3317A= (p.Lys1106=)
20g.32436182A>CCA408563122ASXL1c.3470A>C (p.Lys1157Thr)
c.3287A>C (p.Lys1096Thr)
n.5823A>C
c.1869+1601A>C (n.1869+1601A>C)
c.3455A>C (p.Lys1152Thr)
c.3467A>C (p.Lys1156Thr)
c.3440A>C (p.Lys1147Thr)
c.3386A>C (p.Lys1129Thr)
c.2786A>C (p.Lys929Thr)
c.3734A>C (p.Lys1245Thr)
c.3731A>C (p.Lys1244Thr)
c.3650A>C (p.Lys1217Thr)
c.3581A>C (p.Lys1194Thr)
c.3449A>C (p.Lys1150Thr)
c.3317A>C (p.Lys1106Thr)
20g.32436182A>GCA9808835ASXL1c.3470A>G (p.Lys1157Arg)
c.3287A>G (p.Lys1096Arg)
n.5823A>G
c.1869+1601A>G (n.1869+1601A>G)
c.3455A>G (p.Lys1152Arg)
c.3467A>G (p.Lys1156Arg)
c.3440A>G (p.Lys1147Arg)
c.3386A>G (p.Lys1129Arg)
c.2786A>G (p.Lys929Arg)
c.3734A>G (p.Lys1245Arg)
c.3731A>G (p.Lys1244Arg)
c.3650A>G (p.Lys1217Arg)
c.3581A>G (p.Lys1194Arg)
c.3449A>G (p.Lys1150Arg)
c.3317A>G (p.Lys1106Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436182A>TCA408563123ASXL1c.3470A>T (p.Lys1157Ile)
c.3287A>T (p.Lys1096Ile)
n.5823A>T
c.1869+1601A>T (n.1869+1601A>T)
c.3455A>T (p.Lys1152Ile)
c.3467A>T (p.Lys1156Ile)
c.3440A>T (p.Lys1147Ile)
c.3386A>T (p.Lys1129Ile)
c.2786A>T (p.Lys929Ile)
c.3734A>T (p.Lys1245Ile)
c.3731A>T (p.Lys1244Ile)
c.3650A>T (p.Lys1217Ile)
c.3581A>T (p.Lys1194Ile)
c.3449A>T (p.Lys1150Ile)
c.3317A>T (p.Lys1106Ile)
20g.32436183A>CCA408563124ASXL1c.3471A>C (p.Lys1157Asn)
c.3288A>C (p.Lys1096Asn)
n.5824A>C
c.1869+1602A>C (n.1869+1602A>C)
c.3456A>C (p.Lys1152Asn)
c.3468A>C (p.Lys1156Asn)
c.3441A>C (p.Lys1147Asn)
c.3387A>C (p.Lys1129Asn)
c.2787A>C (p.Lys929Asn)
c.3735A>C (p.Lys1245Asn)
c.3732A>C (p.Lys1244Asn)
c.3651A>C (p.Lys1217Asn)
c.3582A>C (p.Lys1194Asn)
c.3450A>C (p.Lys1150Asn)
c.3318A>C (p.Lys1106Asn)
20g.32436183A>GCA510467272ASXL1c.3471A>G (p.Lys1157=)
c.3288A>G (p.Lys1096=)
n.5824A>G
c.1869+1602A>G (n.1869+1602A>G)
c.3456A>G (p.Lys1152=)
c.3468A>G (p.Lys1156=)
c.3441A>G (p.Lys1147=)
c.3387A>G (p.Lys1129=)
c.2787A>G (p.Lys929=)
c.3735A>G (p.Lys1245=)
c.3732A>G (p.Lys1244=)
c.3651A>G (p.Lys1217=)
c.3582A>G (p.Lys1194=)
c.3450A>G (p.Lys1150=)
c.3318A>G (p.Lys1106=)
20g.32436183A>TCA408563125ASXL1c.3471A>T (p.Lys1157Asn)
c.3288A>T (p.Lys1096Asn)
n.5824A>T
c.1869+1602A>T (n.1869+1602A>T)
c.3456A>T (p.Lys1152Asn)
c.3468A>T (p.Lys1156Asn)
c.3441A>T (p.Lys1147Asn)
c.3387A>T (p.Lys1129Asn)
c.2787A>T (p.Lys929Asn)
c.3735A>T (p.Lys1245Asn)
c.3732A>T (p.Lys1244Asn)
c.3651A>T (p.Lys1217Asn)
c.3582A>T (p.Lys1194Asn)
c.3450A>T (p.Lys1150Asn)
c.3318A>T (p.Lys1106Asn)
20g.32436183_32436186delinsAAACCA2360293576ASXL1c.3471_3474delinsAAAC (p.Lys1157=)
c.3288_3291delinsAAAC (p.Lys1096=)
n.5824_5827delinsAAAC
c.1869+1602_1869+1605delinsAAAC (n.1869+1602_1869+1605delinsAAAC)
c.3456_3459delinsAAAC (p.Lys1152=)
c.3468_3471delinsAAAC (p.Lys1156=)
c.3441_3444delinsAAAC (p.Lys1147=)
c.3387_3390delinsAAAC (p.Lys1129=)
c.2787_2790delinsAAAC (p.Lys929=)
c.3735_3738delinsAAAC (p.Lys1245=)
c.3732_3735delinsAAAC (p.Lys1244=)
c.3651_3654delinsAAAC (p.Lys1217=)
c.3582_3585delinsAAAC (p.Lys1194=)
c.3450_3453delinsAAAC (p.Lys1150=)
c.3318_3321delinsAAAC (p.Lys1106=)
20g.32436184A>CCA408563126ASXL1c.3472A>C (p.Asn1158His)
c.3289A>C (p.Asn1097His)
n.5825A>C
c.1869+1603A>C (n.1869+1603A>C)
c.3457A>C (p.Asn1153His)
c.3469A>C (p.Asn1157His)
c.3442A>C (p.Asn1148His)
c.3388A>C (p.Asn1130His)
c.2788A>C (p.Asn930His)
c.3736A>C (p.Asn1246His)
c.3733A>C (p.Asn1245His)
c.3652A>C (p.Asn1218His)
c.3583A>C (p.Asn1195His)
c.3451A>C (p.Asn1151His)
c.3319A>C (p.Asn1107His)
20g.32436184A>GCA408563127ASXL1c.3472A>G (p.Asn1158Asp)
c.3289A>G (p.Asn1097Asp)
n.5825A>G
c.1869+1603A>G (n.1869+1603A>G)
c.3457A>G (p.Asn1153Asp)
c.3469A>G (p.Asn1157Asp)
c.3442A>G (p.Asn1148Asp)
c.3388A>G (p.Asn1130Asp)
c.2788A>G (p.Asn930Asp)
c.3736A>G (p.Asn1246Asp)
c.3733A>G (p.Asn1245Asp)
c.3652A>G (p.Asn1218Asp)
c.3583A>G (p.Asn1195Asp)
c.3451A>G (p.Asn1151Asp)
c.3319A>G (p.Asn1107Asp)
20g.32436184A>TCA408563128ASXL1c.3472A>T (p.Asn1158Tyr)
c.3289A>T (p.Asn1097Tyr)
n.5825A>T
c.1869+1603A>T (n.1869+1603A>T)
c.3457A>T (p.Asn1153Tyr)
c.3469A>T (p.Asn1157Tyr)
c.3442A>T (p.Asn1148Tyr)
c.3388A>T (p.Asn1130Tyr)
c.2788A>T (p.Asn930Tyr)
c.3736A>T (p.Asn1246Tyr)
c.3733A>T (p.Asn1245Tyr)
c.3652A>T (p.Asn1218Tyr)
c.3583A>T (p.Asn1195Tyr)
c.3451A>T (p.Asn1151Tyr)
c.3319A>T (p.Asn1107Tyr)
20g.32436185_32436187delCA743615196ASXL1c.3473_3475del (p.Asn1158del)
c.3290_3292del (p.Asn1097del)
n.5826_5828del
c.1869+1604_1869+1606del (n.1869+1604_1869+1606del)
c.3458_3460del (p.Asn1153del)
c.3470_3472del (p.Asn1157del)
c.3443_3445del (p.Asn1148del)
c.3389_3391del (p.Asn1130del)
c.2789_2791del (p.Asn930del)
c.3737_3739del (p.Asn1246del)
c.3734_3736del (p.Asn1245del)
c.3653_3655del (p.Asn1218del)
c.3584_3586del (p.Asn1195del)
c.3452_3454del (p.Asn1151del)
c.3320_3322del (p.Asn1107del)
 dbSNP
20g.32436185A>CCA408563131ASXL1c.3473A>C (p.Asn1158Thr)
c.3290A>C (p.Asn1097Thr)
n.5826A>C
c.1869+1604A>C (n.1869+1604A>C)
c.3458A>C (p.Asn1153Thr)
c.3470A>C (p.Asn1157Thr)
c.3443A>C (p.Asn1148Thr)
c.3389A>C (p.Asn1130Thr)
c.2789A>C (p.Asn930Thr)
c.3737A>C (p.Asn1246Thr)
c.3734A>C (p.Asn1245Thr)
c.3653A>C (p.Asn1218Thr)
c.3584A>C (p.Asn1195Thr)
c.3452A>C (p.Asn1151Thr)
c.3320A>C (p.Asn1107Thr)
20g.32436185A>GCA408563129ASXL1c.3473A>G (p.Asn1158Ser)
c.3290A>G (p.Asn1097Ser)
n.5826A>G
c.1869+1604A>G (n.1869+1604A>G)
c.3458A>G (p.Asn1153Ser)
c.3470A>G (p.Asn1157Ser)
c.3443A>G (p.Asn1148Ser)
c.3389A>G (p.Asn1130Ser)
c.2789A>G (p.Asn930Ser)
c.3737A>G (p.Asn1246Ser)
c.3734A>G (p.Asn1245Ser)
c.3653A>G (p.Asn1218Ser)
c.3584A>G (p.Asn1195Ser)
c.3452A>G (p.Asn1151Ser)
c.3320A>G (p.Asn1107Ser)
 gnomAD v4
20g.32436185A>TCA408563130ASXL1c.3473A>T (p.Asn1158Ile)
c.3290A>T (p.Asn1097Ile)
n.5826A>T
c.1869+1604A>T (n.1869+1604A>T)
c.3458A>T (p.Asn1153Ile)
c.3470A>T (p.Asn1157Ile)
c.3443A>T (p.Asn1148Ile)
c.3389A>T (p.Asn1130Ile)
c.2789A>T (p.Asn930Ile)
c.3737A>T (p.Asn1246Ile)
c.3734A>T (p.Asn1245Ile)
c.3653A>T (p.Asn1218Ile)
c.3584A>T (p.Asn1195Ile)
c.3452A>T (p.Asn1151Ile)
c.3320A>T (p.Asn1107Ile)
20g.32436186C>ACA408563132ASXL1c.3474C>A (p.Asn1158Lys)
c.3291C>A (p.Asn1097Lys)
n.5827C>A
c.1869+1605C>A (n.1869+1605C>A)
c.3459C>A (p.Asn1153Lys)
c.3471C>A (p.Asn1157Lys)
c.3444C>A (p.Asn1148Lys)
c.3390C>A (p.Asn1130Lys)
c.2790C>A (p.Asn930Lys)
c.3738C>A (p.Asn1246Lys)
c.3735C>A (p.Asn1245Lys)
c.3654C>A (p.Asn1218Lys)
c.3585C>A (p.Asn1195Lys)
c.3453C>A (p.Asn1151Lys)
c.3321C>A (p.Asn1107Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436186C=CA2360293577ASXL1c.3474C= (p.Asn1158=)
c.3291C= (p.Asn1097=)
n.5827C=
c.1869+1605C= (n.1869+1605C=)
c.3459C= (p.Asn1153=)
c.3471C= (p.Asn1157=)
c.3444C= (p.Asn1148=)
c.3390C= (p.Asn1130=)
c.2790C= (p.Asn930=)
c.3738C= (p.Asn1246=)
c.3735C= (p.Asn1245=)
c.3654C= (p.Asn1218=)
c.3585C= (p.Asn1195=)
c.3453C= (p.Asn1151=)
c.3321C= (p.Asn1107=)
20g.32436186C>GCA408563133ASXL1c.3474C>G (p.Asn1158Lys)
c.3291C>G (p.Asn1097Lys)
n.5827C>G
c.1869+1605C>G (n.1869+1605C>G)
c.3459C>G (p.Asn1153Lys)
c.3471C>G (p.Asn1157Lys)
c.3444C>G (p.Asn1148Lys)
c.3390C>G (p.Asn1130Lys)
c.2790C>G (p.Asn930Lys)
c.3738C>G (p.Asn1246Lys)
c.3735C>G (p.Asn1245Lys)
c.3654C>G (p.Asn1218Lys)
c.3585C>G (p.Asn1195Lys)
c.3453C>G (p.Asn1151Lys)
c.3321C>G (p.Asn1107Lys)
 dbSNP
20g.32436186C>TCA510467273ASXL1c.3474C>T (p.Asn1158=)
c.3291C>T (p.Asn1097=)
n.5827C>T
c.1869+1605C>T (n.1869+1605C>T)
c.3459C>T (p.Asn1153=)
c.3471C>T (p.Asn1157=)
c.3444C>T (p.Asn1148=)
c.3390C>T (p.Asn1130=)
c.2790C>T (p.Asn930=)
c.3738C>T (p.Asn1246=)
c.3735C>T (p.Asn1245=)
c.3654C>T (p.Asn1218=)
c.3585C>T (p.Asn1195=)
c.3453C>T (p.Asn1151=)
c.3321C>T (p.Asn1107=)
 dbSNP
20g.32436187A=CA2360293578ASXL1c.3475A= (p.Ser1159=)
c.3292A= (p.Ser1098=)
n.5828A=
c.1869+1606A= (n.1869+1606A=)
c.3460A= (p.Ser1154=)
c.3472A= (p.Ser1158=)
c.3445A= (p.Ser1149=)
c.3391A= (p.Ser1131=)
c.2791A= (p.Ser931=)
c.3739A= (p.Ser1247=)
c.3736A= (p.Ser1246=)
c.3655A= (p.Ser1219=)
c.3586A= (p.Ser1196=)
c.3454A= (p.Ser1152=)
c.3322A= (p.Ser1108=)
20g.32436187A>CCA408563134ASXL1c.3475A>C (p.Ser1159Arg)
c.3292A>C (p.Ser1098Arg)
n.5828A>C
c.1869+1606A>C (n.1869+1606A>C)
c.3460A>C (p.Ser1154Arg)
c.3472A>C (p.Ser1158Arg)
c.3445A>C (p.Ser1149Arg)
c.3391A>C (p.Ser1131Arg)
c.2791A>C (p.Ser931Arg)
c.3739A>C (p.Ser1247Arg)
c.3736A>C (p.Ser1246Arg)
c.3655A>C (p.Ser1219Arg)
c.3586A>C (p.Ser1196Arg)
c.3454A>C (p.Ser1152Arg)
c.3322A>C (p.Ser1108Arg)
20g.32436187A>GCA408563135ASXL1c.3475A>G (p.Ser1159Gly)
c.3292A>G (p.Ser1098Gly)
n.5828A>G
c.1869+1606A>G (n.1869+1606A>G)
c.3460A>G (p.Ser1154Gly)
c.3472A>G (p.Ser1158Gly)
c.3445A>G (p.Ser1149Gly)
c.3391A>G (p.Ser1131Gly)
c.2791A>G (p.Ser931Gly)
c.3739A>G (p.Ser1247Gly)
c.3736A>G (p.Ser1246Gly)
c.3655A>G (p.Ser1219Gly)
c.3586A>G (p.Ser1196Gly)
c.3454A>G (p.Ser1152Gly)
c.3322A>G (p.Ser1108Gly)
 dbSNP gnomAD v4
20g.32436187A>TCA408563136ASXL1c.3475A>T (p.Ser1159Cys)
c.3292A>T (p.Ser1098Cys)
n.5828A>T
c.1869+1606A>T (n.1869+1606A>T)
c.3460A>T (p.Ser1154Cys)
c.3472A>T (p.Ser1158Cys)
c.3445A>T (p.Ser1149Cys)
c.3391A>T (p.Ser1131Cys)
c.2791A>T (p.Ser931Cys)
c.3739A>T (p.Ser1247Cys)
c.3736A>T (p.Ser1246Cys)
c.3655A>T (p.Ser1219Cys)
c.3586A>T (p.Ser1196Cys)
c.3454A>T (p.Ser1152Cys)
c.3322A>T (p.Ser1108Cys)
20g.32436188G>ACA408563137ASXL1c.3476G>A (p.Ser1159Asn)
c.3293G>A (p.Ser1098Asn)
n.5829G>A
c.1869+1607G>A (n.1869+1607G>A)
c.3461G>A (p.Ser1154Asn)
c.3473G>A (p.Ser1158Asn)
c.3446G>A (p.Ser1149Asn)
c.3392G>A (p.Ser1131Asn)
c.2792G>A (p.Ser931Asn)
c.3740G>A (p.Ser1247Asn)
c.3737G>A (p.Ser1246Asn)
c.3656G>A (p.Ser1219Asn)
c.3587G>A (p.Ser1196Asn)
c.3455G>A (p.Ser1152Asn)
c.3323G>A (p.Ser1108Asn)
20g.32436188G>CCA408563138ASXL1c.3476G>C (p.Ser1159Thr)
c.3293G>C (p.Ser1098Thr)
n.5829G>C
c.1869+1607G>C (n.1869+1607G>C)
c.3461G>C (p.Ser1154Thr)
c.3473G>C (p.Ser1158Thr)
c.3446G>C (p.Ser1149Thr)
c.3392G>C (p.Ser1131Thr)
c.2792G>C (p.Ser931Thr)
c.3740G>C (p.Ser1247Thr)
c.3737G>C (p.Ser1246Thr)
c.3656G>C (p.Ser1219Thr)
c.3587G>C (p.Ser1196Thr)
c.3455G>C (p.Ser1152Thr)
c.3323G>C (p.Ser1108Thr)
20g.32436188G>TCA408563139ASXL1c.3476G>T (p.Ser1159Ile)
c.3293G>T (p.Ser1098Ile)
n.5829G>T
c.1869+1607G>T (n.1869+1607G>T)
c.3461G>T (p.Ser1154Ile)
c.3473G>T (p.Ser1158Ile)
c.3446G>T (p.Ser1149Ile)
c.3392G>T (p.Ser1131Ile)
c.2792G>T (p.Ser931Ile)
c.3740G>T (p.Ser1247Ile)
c.3737G>T (p.Ser1246Ile)
c.3656G>T (p.Ser1219Ile)
c.3587G>T (p.Ser1196Ile)
c.3455G>T (p.Ser1152Ile)
c.3323G>T (p.Ser1108Ile)
20g.32436189T>ACA408563140ASXL1c.3477T>A (p.Ser1159Arg)
c.3294T>A (p.Ser1098Arg)
n.5830T>A
c.1869+1608T>A (n.1869+1608T>A)
c.3462T>A (p.Ser1154Arg)
c.3474T>A (p.Ser1158Arg)
c.3447T>A (p.Ser1149Arg)
c.3393T>A (p.Ser1131Arg)
c.2793T>A (p.Ser931Arg)
c.3741T>A (p.Ser1247Arg)
c.3738T>A (p.Ser1246Arg)
c.3657T>A (p.Ser1219Arg)
c.3588T>A (p.Ser1196Arg)
c.3456T>A (p.Ser1152Arg)
c.3324T>A (p.Ser1108Arg)
 dbSNP
20g.32436189T>CCA510467274ASXL1c.3477T>C (p.Ser1159=)
c.3294T>C (p.Ser1098=)
n.5830T>C
c.1869+1608T>C (n.1869+1608T>C)
c.3462T>C (p.Ser1154=)
c.3474T>C (p.Ser1158=)
c.3447T>C (p.Ser1149=)
c.3393T>C (p.Ser1131=)
c.2793T>C (p.Ser931=)
c.3741T>C (p.Ser1247=)
c.3738T>C (p.Ser1246=)
c.3657T>C (p.Ser1219=)
c.3588T>C (p.Ser1196=)
c.3456T>C (p.Ser1152=)
c.3324T>C (p.Ser1108=)
20g.32436189T>GCA408563141ASXL1c.3477T>G (p.Ser1159Arg)
c.3294T>G (p.Ser1098Arg)
n.5830T>G
c.1869+1608T>G (n.1869+1608T>G)
c.3462T>G (p.Ser1154Arg)
c.3474T>G (p.Ser1158Arg)
c.3447T>G (p.Ser1149Arg)
c.3393T>G (p.Ser1131Arg)
c.2793T>G (p.Ser931Arg)
c.3741T>G (p.Ser1247Arg)
c.3738T>G (p.Ser1246Arg)
c.3657T>G (p.Ser1219Arg)
c.3588T>G (p.Ser1196Arg)
c.3456T>G (p.Ser1152Arg)
c.3324T>G (p.Ser1108Arg)
20g.32436192_32436196delCA2577366305ASXL1c.3480_3484del (p.Met1161Ter)
c.3297_3301del (p.Met1100Ter)
n.5833_5837del
c.1869+1611_1869+1615del (n.1869+1611_1869+1615del)
c.3465_3469del (p.Met1156Ter)
c.3477_3481del (p.Met1160Ter)
c.3450_3454del (p.Met1151Ter)
c.3396_3400del (p.Met1133Ter)
c.2796_2800del (p.Met933Ter)
c.3744_3748del (p.Met1249Ter)
c.3741_3745del (p.Met1248Ter)
c.3660_3664del (p.Met1221Ter)
c.3591_3595del (p.Met1198Ter)
c.3459_3463del (p.Met1154Ter)
c.3327_3331del (p.Met1110Ter)
20g.32436190G>ACA408563143ASXL1c.3478G>A (p.Gly1160Ser)
c.3295G>A (p.Gly1099Ser)
n.5831G>A
c.1869+1609G>A (n.1869+1609G>A)
c.3463G>A (p.Gly1155Ser)
c.3475G>A (p.Gly1159Ser)
c.3448G>A (p.Gly1150Ser)
c.3394G>A (p.Gly1132Ser)
c.2794G>A (p.Gly932Ser)
c.3742G>A (p.Gly1248Ser)
c.3739G>A (p.Gly1247Ser)
c.3658G>A (p.Gly1220Ser)
c.3589G>A (p.Gly1197Ser)
c.3457G>A (p.Gly1153Ser)
c.3325G>A (p.Gly1109Ser)
20g.32436190G>CCA408563144ASXL1c.3478G>C (p.Gly1160Arg)
c.3295G>C (p.Gly1099Arg)
n.5831G>C
c.1869+1609G>C (n.1869+1609G>C)
c.3463G>C (p.Gly1155Arg)
c.3475G>C (p.Gly1159Arg)
c.3448G>C (p.Gly1150Arg)
c.3394G>C (p.Gly1132Arg)
c.2794G>C (p.Gly932Arg)
c.3742G>C (p.Gly1248Arg)
c.3739G>C (p.Gly1247Arg)
c.3658G>C (p.Gly1220Arg)
c.3589G>C (p.Gly1197Arg)
c.3457G>C (p.Gly1153Arg)
c.3325G>C (p.Gly1109Arg)
 dbSNP
20g.32436190G>TCA408563142ASXL1c.3478G>T (p.Gly1160Cys)
c.3295G>T (p.Gly1099Cys)
n.5831G>T
c.1869+1609G>T (n.1869+1609G>T)
c.3463G>T (p.Gly1155Cys)
c.3475G>T (p.Gly1159Cys)
c.3448G>T (p.Gly1150Cys)
c.3394G>T (p.Gly1132Cys)
c.2794G>T (p.Gly932Cys)
c.3742G>T (p.Gly1248Cys)
c.3739G>T (p.Gly1247Cys)
c.3658G>T (p.Gly1220Cys)
c.3589G>T (p.Gly1197Cys)
c.3457G>T (p.Gly1153Cys)
c.3325G>T (p.Gly1109Cys)
20g.32436191G>ACA408563145ASXL1c.3479G>A (p.Gly1160Asp)
c.3296G>A (p.Gly1099Asp)
n.5832G>A
c.1869+1610G>A (n.1869+1610G>A)
c.3464G>A (p.Gly1155Asp)
c.3476G>A (p.Gly1159Asp)
c.3449G>A (p.Gly1150Asp)
c.3395G>A (p.Gly1132Asp)
c.2795G>A (p.Gly932Asp)
c.3743G>A (p.Gly1248Asp)
c.3740G>A (p.Gly1247Asp)
c.3659G>A (p.Gly1220Asp)
c.3590G>A (p.Gly1197Asp)
c.3458G>A (p.Gly1153Asp)
c.3326G>A (p.Gly1109Asp)
 dbSNP
20g.32436191G>CCA408563146ASXL1c.3479G>C (p.Gly1160Ala)
c.3296G>C (p.Gly1099Ala)
n.5832G>C
c.1869+1610G>C (n.1869+1610G>C)
c.3464G>C (p.Gly1155Ala)
c.3476G>C (p.Gly1159Ala)
c.3449G>C (p.Gly1150Ala)
c.3395G>C (p.Gly1132Ala)
c.2795G>C (p.Gly932Ala)
c.3743G>C (p.Gly1248Ala)
c.3740G>C (p.Gly1247Ala)
c.3659G>C (p.Gly1220Ala)
c.3590G>C (p.Gly1197Ala)
c.3458G>C (p.Gly1153Ala)
c.3326G>C (p.Gly1109Ala)
 dbSNP
20g.32436191G>TCA408563147ASXL1c.3479G>T (p.Gly1160Val)
c.3296G>T (p.Gly1099Val)
n.5832G>T
c.1869+1610G>T (n.1869+1610G>T)
c.3464G>T (p.Gly1155Val)
c.3476G>T (p.Gly1159Val)
c.3449G>T (p.Gly1150Val)
c.3395G>T (p.Gly1132Val)
c.2795G>T (p.Gly932Val)
c.3743G>T (p.Gly1248Val)
c.3740G>T (p.Gly1247Val)
c.3659G>T (p.Gly1220Val)
c.3590G>T (p.Gly1197Val)
c.3458G>T (p.Gly1153Val)
c.3326G>T (p.Gly1109Val)
20g.32436192C>ACA510467275ASXL1c.3480C>A (p.Gly1160=)
c.3297C>A (p.Gly1099=)
n.5833C>A
c.1869+1611C>A (n.1869+1611C>A)
c.3465C>A (p.Gly1155=)
c.3477C>A (p.Gly1159=)
c.3450C>A (p.Gly1150=)
c.3396C>A (p.Gly1132=)
c.2796C>A (p.Gly932=)
c.3744C>A (p.Gly1248=)
c.3741C>A (p.Gly1247=)
c.3660C>A (p.Gly1220=)
c.3591C>A (p.Gly1197=)
c.3459C>A (p.Gly1153=)
c.3327C>A (p.Gly1109=)
20g.32436192C=CA2360293579ASXL1c.3480C= (p.Gly1160=)
c.3297C= (p.Gly1099=)
n.5833C=
c.1869+1611C= (n.1869+1611C=)
c.3465C= (p.Gly1155=)
c.3477C= (p.Gly1159=)
c.3450C= (p.Gly1150=)
c.3396C= (p.Gly1132=)
c.2796C= (p.Gly932=)
c.3744C= (p.Gly1248=)
c.3741C= (p.Gly1247=)
c.3660C= (p.Gly1220=)
c.3591C= (p.Gly1197=)
c.3459C= (p.Gly1153=)
c.3327C= (p.Gly1109=)
20g.32436192C>GCA510467276ASXL1c.3480C>G (p.Gly1160=)
c.3297C>G (p.Gly1099=)
n.5833C>G
c.1869+1611C>G (n.1869+1611C>G)
c.3465C>G (p.Gly1155=)
c.3477C>G (p.Gly1159=)
c.3450C>G (p.Gly1150=)
c.3396C>G (p.Gly1132=)
c.2796C>G (p.Gly932=)
c.3744C>G (p.Gly1248=)
c.3741C>G (p.Gly1247=)
c.3660C>G (p.Gly1220=)
c.3591C>G (p.Gly1197=)
c.3459C>G (p.Gly1153=)
c.3327C>G (p.Gly1109=)
20g.32436192C>TCA9808836ASXL1c.3480C>T (p.Gly1160=)
c.3297C>T (p.Gly1099=)
n.5833C>T
c.1869+1611C>T (n.1869+1611C>T)
c.3465C>T (p.Gly1155=)
c.3477C>T (p.Gly1159=)
c.3450C>T (p.Gly1150=)
c.3396C>T (p.Gly1132=)
c.2796C>T (p.Gly932=)
c.3744C>T (p.Gly1248=)
c.3741C>T (p.Gly1247=)
c.3660C>T (p.Gly1220=)
c.3591C>T (p.Gly1197=)
c.3459C>T (p.Gly1153=)
c.3327C>T (p.Gly1109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436193A=CA2360293580ASXL1c.3481A= (p.Met1161=)
c.3298A= (p.Met1100=)
n.5834A=
c.1869+1612A= (n.1869+1612A=)
c.3466A= (p.Met1156=)
c.3478A= (p.Met1160=)
c.3451A= (p.Met1151=)
c.3397A= (p.Met1133=)
c.2797A= (p.Met933=)
c.3745A= (p.Met1249=)
c.3742A= (p.Met1248=)
c.3661A= (p.Met1221=)
c.3592A= (p.Met1198=)
c.3460A= (p.Met1154=)
c.3328A= (p.Met1110=)
20g.32436193A>CCA408563148ASXL1c.3481A>C (p.Met1161Leu)
c.3298A>C (p.Met1100Leu)
n.5834A>C
c.1869+1612A>C (n.1869+1612A>C)
c.3466A>C (p.Met1156Leu)
c.3478A>C (p.Met1160Leu)
c.3451A>C (p.Met1151Leu)
c.3397A>C (p.Met1133Leu)
c.2797A>C (p.Met933Leu)
c.3745A>C (p.Met1249Leu)
c.3742A>C (p.Met1248Leu)
c.3661A>C (p.Met1221Leu)
c.3592A>C (p.Met1198Leu)
c.3460A>C (p.Met1154Leu)
c.3328A>C (p.Met1110Leu)
20g.32436193A>GCA408563149ASXL1c.3481A>G (p.Met1161Val)
c.3298A>G (p.Met1100Val)
n.5834A>G
c.1869+1612A>G (n.1869+1612A>G)
c.3466A>G (p.Met1156Val)
c.3478A>G (p.Met1160Val)
c.3451A>G (p.Met1151Val)
c.3397A>G (p.Met1133Val)
c.2797A>G (p.Met933Val)
c.3745A>G (p.Met1249Val)
c.3742A>G (p.Met1248Val)
c.3661A>G (p.Met1221Val)
c.3592A>G (p.Met1198Val)
c.3460A>G (p.Met1154Val)
c.3328A>G (p.Met1110Val)
 dbSNP gnomAD v4
20g.32436193A>TCA408563150ASXL1c.3481A>T (p.Met1161Leu)
c.3298A>T (p.Met1100Leu)
n.5834A>T
c.1869+1612A>T (n.1869+1612A>T)
c.3466A>T (p.Met1156Leu)
c.3478A>T (p.Met1160Leu)
c.3451A>T (p.Met1151Leu)
c.3397A>T (p.Met1133Leu)
c.2797A>T (p.Met933Leu)
c.3745A>T (p.Met1249Leu)
c.3742A>T (p.Met1248Leu)
c.3661A>T (p.Met1221Leu)
c.3592A>T (p.Met1198Leu)
c.3460A>T (p.Met1154Leu)
c.3328A>T (p.Met1110Leu)
20g.32436194T>ACA408563151ASXL1c.3482T>A (p.Met1161Lys)
c.3299T>A (p.Met1100Lys)
n.5835T>A
c.1869+1613T>A (n.1869+1613T>A)
c.3467T>A (p.Met1156Lys)
c.3479T>A (p.Met1160Lys)
c.3452T>A (p.Met1151Lys)
c.3398T>A (p.Met1133Lys)
c.2798T>A (p.Met933Lys)
c.3746T>A (p.Met1249Lys)
c.3743T>A (p.Met1248Lys)
c.3662T>A (p.Met1221Lys)
c.3593T>A (p.Met1198Lys)
c.3461T>A (p.Met1154Lys)
c.3329T>A (p.Met1110Lys)
20g.32436194T>CCA9808837ASXL1c.3482T>C (p.Met1161Thr)
c.3299T>C (p.Met1100Thr)
n.5835T>C
c.1869+1613T>C (n.1869+1613T>C)
c.3467T>C (p.Met1156Thr)
c.3479T>C (p.Met1160Thr)
c.3452T>C (p.Met1151Thr)
c.3398T>C (p.Met1133Thr)
c.2798T>C (p.Met933Thr)
c.3746T>C (p.Met1249Thr)
c.3743T>C (p.Met1248Thr)
c.3662T>C (p.Met1221Thr)
c.3593T>C (p.Met1198Thr)
c.3461T>C (p.Met1154Thr)
c.3329T>C (p.Met1110Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436194T>GCA408563152ASXL1c.3482T>G (p.Met1161Arg)
c.3299T>G (p.Met1100Arg)
n.5835T>G
c.1869+1613T>G (n.1869+1613T>G)
c.3467T>G (p.Met1156Arg)
c.3479T>G (p.Met1160Arg)
c.3452T>G (p.Met1151Arg)
c.3398T>G (p.Met1133Arg)
c.2798T>G (p.Met933Arg)
c.3746T>G (p.Met1249Arg)
c.3743T>G (p.Met1248Arg)
c.3662T>G (p.Met1221Arg)
c.3593T>G (p.Met1198Arg)
c.3461T>G (p.Met1154Arg)
c.3329T>G (p.Met1110Arg)
20g.32436194T=CA2360293581ASXL1c.3482T= (p.Met1161=)
c.3299T= (p.Met1100=)
n.5835T=
c.1869+1613T= (n.1869+1613T=)
c.3467T= (p.Met1156=)
c.3479T= (p.Met1160=)
c.3452T= (p.Met1151=)
c.3398T= (p.Met1133=)
c.2798T= (p.Met933=)
c.3746T= (p.Met1249=)
c.3743T= (p.Met1248=)
c.3662T= (p.Met1221=)
c.3593T= (p.Met1198=)
c.3461T= (p.Met1154=)
c.3329T= (p.Met1110=)
20g.32436195G>ACA408563153ASXL1c.3483G>A (p.Met1161Ile)
c.3300G>A (p.Met1100Ile)
n.5836G>A
c.1869+1614G>A (n.1869+1614G>A)
c.3468G>A (p.Met1156Ile)
c.3480G>A (p.Met1160Ile)
c.3453G>A (p.Met1151Ile)
c.3399G>A (p.Met1133Ile)
c.2799G>A (p.Met933Ile)
c.3747G>A (p.Met1249Ile)
c.3744G>A (p.Met1248Ile)
c.3663G>A (p.Met1221Ile)
c.3594G>A (p.Met1198Ile)
c.3462G>A (p.Met1154Ile)
c.3330G>A (p.Met1110Ile)
 dbSNP
20g.32436195G>CCA408563154ASXL1c.3483G>C (p.Met1161Ile)
c.3300G>C (p.Met1100Ile)
n.5836G>C
c.1869+1614G>C (n.1869+1614G>C)
c.3468G>C (p.Met1156Ile)
c.3480G>C (p.Met1160Ile)
c.3453G>C (p.Met1151Ile)
c.3399G>C (p.Met1133Ile)
c.2799G>C (p.Met933Ile)
c.3747G>C (p.Met1249Ile)
c.3744G>C (p.Met1248Ile)
c.3663G>C (p.Met1221Ile)
c.3594G>C (p.Met1198Ile)
c.3462G>C (p.Met1154Ile)
c.3330G>C (p.Met1110Ile)
20g.32436195G=CA2360293582ASXL1c.3483G= (p.Met1161=)
c.3300G= (p.Met1100=)
n.5836G=
c.1869+1614G= (n.1869+1614G=)
c.3468G= (p.Met1156=)
c.3480G= (p.Met1160=)
c.3453G= (p.Met1151=)
c.3399G= (p.Met1133=)
c.2799G= (p.Met933=)
c.3747G= (p.Met1249=)
c.3744G= (p.Met1248=)
c.3663G= (p.Met1221=)
c.3594G= (p.Met1198=)
c.3462G= (p.Met1154=)
c.3330G= (p.Met1110=)
20g.32436195G>TCA408563155ASXL1c.3483G>T (p.Met1161Ile)
c.3300G>T (p.Met1100Ile)
n.5836G>T
c.1869+1614G>T (n.1869+1614G>T)
c.3468G>T (p.Met1156Ile)
c.3480G>T (p.Met1160Ile)
c.3453G>T (p.Met1151Ile)
c.3399G>T (p.Met1133Ile)
c.2799G>T (p.Met933Ile)
c.3747G>T (p.Met1249Ile)
c.3744G>T (p.Met1248Ile)
c.3663G>T (p.Met1221Ile)
c.3594G>T (p.Met1198Ile)
c.3462G>T (p.Met1154Ile)
c.3330G>T (p.Met1110Ile)
20g.32436196G>ACA408563158ASXL1c.3484G>A (p.Val1162Ile)
c.3301G>A (p.Val1101Ile)
n.5837G>A
c.1869+1615G>A (n.1869+1615G>A)
c.3469G>A (p.Val1157Ile)
c.3481G>A (p.Val1161Ile)
c.3454G>A (p.Val1152Ile)
c.3400G>A (p.Val1134Ile)
c.2800G>A (p.Val934Ile)
c.3748G>A (p.Val1250Ile)
c.3745G>A (p.Val1249Ile)
c.3664G>A (p.Val1222Ile)
c.3595G>A (p.Val1199Ile)
c.3463G>A (p.Val1155Ile)
c.3331G>A (p.Val1111Ile)
 dbSNP gnomAD v4
20g.32436196G>CCA408563157ASXL1c.3484G>C (p.Val1162Leu)
c.3301G>C (p.Val1101Leu)
n.5837G>C
c.1869+1615G>C (n.1869+1615G>C)
c.3469G>C (p.Val1157Leu)
c.3481G>C (p.Val1161Leu)
c.3454G>C (p.Val1152Leu)
c.3400G>C (p.Val1134Leu)
c.2800G>C (p.Val934Leu)
c.3748G>C (p.Val1250Leu)
c.3745G>C (p.Val1249Leu)
c.3664G>C (p.Val1222Leu)
c.3595G>C (p.Val1199Leu)
c.3463G>C (p.Val1155Leu)
c.3331G>C (p.Val1111Leu)
20g.32436196G>TCA408563156ASXL1c.3484G>T (p.Val1162Phe)
c.3301G>T (p.Val1101Phe)
n.5837G>T
c.1869+1615G>T (n.1869+1615G>T)
c.3469G>T (p.Val1157Phe)
c.3481G>T (p.Val1161Phe)
c.3454G>T (p.Val1152Phe)
c.3400G>T (p.Val1134Phe)
c.2800G>T (p.Val934Phe)
c.3748G>T (p.Val1250Phe)
c.3745G>T (p.Val1249Phe)
c.3664G>T (p.Val1222Phe)
c.3595G>T (p.Val1199Phe)
c.3463G>T (p.Val1155Phe)
c.3331G>T (p.Val1111Phe)
20g.32436197T>ACA408563159ASXL1c.3485T>A (p.Val1162Asp)
c.3302T>A (p.Val1101Asp)
n.5838T>A
c.1869+1616T>A (n.1869+1616T>A)
c.3470T>A (p.Val1157Asp)
c.3482T>A (p.Val1161Asp)
c.3455T>A (p.Val1152Asp)
c.3401T>A (p.Val1134Asp)
c.2801T>A (p.Val934Asp)
c.3749T>A (p.Val1250Asp)
c.3746T>A (p.Val1249Asp)
c.3665T>A (p.Val1222Asp)
c.3596T>A (p.Val1199Asp)
c.3464T>A (p.Val1155Asp)
c.3332T>A (p.Val1111Asp)
20g.32436197T>CCA408563160ASXL1c.3485T>C (p.Val1162Ala)
c.3302T>C (p.Val1101Ala)
n.5838T>C
c.1869+1616T>C (n.1869+1616T>C)
c.3470T>C (p.Val1157Ala)
c.3482T>C (p.Val1161Ala)
c.3455T>C (p.Val1152Ala)
c.3401T>C (p.Val1134Ala)
c.2801T>C (p.Val934Ala)
c.3749T>C (p.Val1250Ala)
c.3746T>C (p.Val1249Ala)
c.3665T>C (p.Val1222Ala)
c.3596T>C (p.Val1199Ala)
c.3464T>C (p.Val1155Ala)
c.3332T>C (p.Val1111Ala)
20g.32436197T>GCA408563161ASXL1c.3485T>G (p.Val1162Gly)
c.3302T>G (p.Val1101Gly)
n.5838T>G
c.1869+1616T>G (n.1869+1616T>G)
c.3470T>G (p.Val1157Gly)
c.3482T>G (p.Val1161Gly)
c.3455T>G (p.Val1152Gly)
c.3401T>G (p.Val1134Gly)
c.2801T>G (p.Val934Gly)
c.3749T>G (p.Val1250Gly)
c.3746T>G (p.Val1249Gly)
c.3665T>G (p.Val1222Gly)
c.3596T>G (p.Val1199Gly)
c.3464T>G (p.Val1155Gly)
c.3332T>G (p.Val1111Gly)
20g.32436198T>ACA510467277ASXL1c.3486T>A (p.Val1162=)
c.3303T>A (p.Val1101=)
n.5839T>A
c.1869+1617T>A (n.1869+1617T>A)
c.3471T>A (p.Val1157=)
c.3483T>A (p.Val1161=)
c.3456T>A (p.Val1152=)
c.3402T>A (p.Val1134=)
c.2802T>A (p.Val934=)
c.3750T>A (p.Val1250=)
c.3747T>A (p.Val1249=)
c.3666T>A (p.Val1222=)
c.3597T>A (p.Val1199=)
c.3465T>A (p.Val1155=)
c.3333T>A (p.Val1111=)
20g.32436198T>CCA510467278ASXL1c.3486T>C (p.Val1162=)
c.3303T>C (p.Val1101=)
n.5839T>C
c.1869+1617T>C (n.1869+1617T>C)
c.3471T>C (p.Val1157=)
c.3483T>C (p.Val1161=)
c.3456T>C (p.Val1152=)
c.3402T>C (p.Val1134=)
c.2802T>C (p.Val934=)
c.3750T>C (p.Val1250=)
c.3747T>C (p.Val1249=)
c.3666T>C (p.Val1222=)
c.3597T>C (p.Val1199=)
c.3465T>C (p.Val1155=)
c.3333T>C (p.Val1111=)
20g.32436198T>GCA9808838ASXL1c.3486T>G (p.Val1162=)
c.3303T>G (p.Val1101=)
n.5839T>G
c.1869+1617T>G (n.1869+1617T>G)
c.3471T>G (p.Val1157=)
c.3483T>G (p.Val1161=)
c.3456T>G (p.Val1152=)
c.3402T>G (p.Val1134=)
c.2802T>G (p.Val934=)
c.3750T>G (p.Val1250=)
c.3747T>G (p.Val1249=)
c.3666T>G (p.Val1222=)
c.3597T>G (p.Val1199=)
c.3465T>G (p.Val1155=)
c.3333T>G (p.Val1111=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436198T=CA2360293583ASXL1c.3486T= (p.Val1162=)
c.3303T= (p.Val1101=)
n.5839T=
c.1869+1617T= (n.1869+1617T=)
c.3471T= (p.Val1157=)
c.3483T= (p.Val1161=)
c.3456T= (p.Val1152=)
c.3402T= (p.Val1134=)
c.2802T= (p.Val934=)
c.3750T= (p.Val1250=)
c.3747T= (p.Val1249=)
c.3666T= (p.Val1222=)
c.3597T= (p.Val1199=)
c.3465T= (p.Val1155=)
c.3333T= (p.Val1111=)
20g.32436199G>ACA9808839ASXL1c.3487G>A (p.Asp1163Asn)
c.3304G>A (p.Asp1102Asn)
n.5840G>A
c.1869+1618G>A (n.1869+1618G>A)
c.3472G>A (p.Asp1158Asn)
c.3484G>A (p.Asp1162Asn)
c.3457G>A (p.Asp1153Asn)
c.3403G>A (p.Asp1135Asn)
c.2803G>A (p.Asp935Asn)
c.3751G>A (p.Asp1251Asn)
c.3748G>A (p.Asp1250Asn)
c.3667G>A (p.Asp1223Asn)
c.3598G>A (p.Asp1200Asn)
c.3466G>A (p.Asp1156Asn)
c.3334G>A (p.Asp1112Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436199G>CCA408563162ASXL1c.3487G>C (p.Asp1163His)
c.3304G>C (p.Asp1102His)
n.5840G>C
c.1869+1618G>C (n.1869+1618G>C)
c.3472G>C (p.Asp1158His)
c.3484G>C (p.Asp1162His)
c.3457G>C (p.Asp1153His)
c.3403G>C (p.Asp1135His)
c.2803G>C (p.Asp935His)
c.3751G>C (p.Asp1251His)
c.3748G>C (p.Asp1250His)
c.3667G>C (p.Asp1223His)
c.3598G>C (p.Asp1200His)
c.3466G>C (p.Asp1156His)
c.3334G>C (p.Asp1112His)
20g.32436199G=CA2360293584ASXL1c.3487G= (p.Asp1163=)
c.3304G= (p.Asp1102=)
n.5840G=
c.1869+1618G= (n.1869+1618G=)
c.3472G= (p.Asp1158=)
c.3484G= (p.Asp1162=)
c.3457G= (p.Asp1153=)
c.3403G= (p.Asp1135=)
c.2803G= (p.Asp935=)
c.3751G= (p.Asp1251=)
c.3748G= (p.Asp1250=)
c.3667G= (p.Asp1223=)
c.3598G= (p.Asp1200=)
c.3466G= (p.Asp1156=)
c.3334G= (p.Asp1112=)
20g.32436199G>TCA408563163ASXL1c.3487G>T (p.Asp1163Tyr)
c.3304G>T (p.Asp1102Tyr)
n.5840G>T
c.1869+1618G>T (n.1869+1618G>T)
c.3472G>T (p.Asp1158Tyr)
c.3484G>T (p.Asp1162Tyr)
c.3457G>T (p.Asp1153Tyr)
c.3403G>T (p.Asp1135Tyr)
c.2803G>T (p.Asp935Tyr)
c.3751G>T (p.Asp1251Tyr)
c.3748G>T (p.Asp1250Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3598G>T (p.Asp1200Tyr)
c.3466G>T (p.Asp1156Tyr)
c.3334G>T (p.Asp1112Tyr)
20g.32436200A=CA2360293585ASXL1c.3488A= (p.Asp1163=)
c.3305A= (p.Asp1102=)
n.5841A=
c.1869+1619A= (n.1869+1619A=)
c.3473A= (p.Asp1158=)
c.3485A= (p.Asp1162=)
c.3458A= (p.Asp1153=)
c.3404A= (p.Asp1135=)
c.2804A= (p.Asp935=)
c.3752A= (p.Asp1251=)
c.3749A= (p.Asp1250=)
c.3668A= (p.Asp1223=)
c.3599A= (p.Asp1200=)
c.3467A= (p.Asp1156=)
c.3335A= (p.Asp1112=)
20g.32436200A>CCA408563164ASXL1c.3488A>C (p.Asp1163Ala)
c.3305A>C (p.Asp1102Ala)
n.5841A>C
c.1869+1619A>C (n.1869+1619A>C)
c.3473A>C (p.Asp1158Ala)
c.3485A>C (p.Asp1162Ala)
c.3458A>C (p.Asp1153Ala)
c.3404A>C (p.Asp1135Ala)
c.2804A>C (p.Asp935Ala)
c.3752A>C (p.Asp1251Ala)
c.3749A>C (p.Asp1250Ala)
c.3668A>C (p.Asp1223Ala)
c.3599A>C (p.Asp1200Ala)
c.3467A>C (p.Asp1156Ala)
c.3335A>C (p.Asp1112Ala)
20g.32436200A>GCA9808840ASXL1c.3488A>G (p.Asp1163Gly)
c.3305A>G (p.Asp1102Gly)
n.5841A>G
c.1869+1619A>G (n.1869+1619A>G)
c.3473A>G (p.Asp1158Gly)
c.3485A>G (p.Asp1162Gly)
c.3458A>G (p.Asp1153Gly)
c.3404A>G (p.Asp1135Gly)
c.2804A>G (p.Asp935Gly)
c.3752A>G (p.Asp1251Gly)
c.3749A>G (p.Asp1250Gly)
c.3668A>G (p.Asp1223Gly)
c.3599A>G (p.Asp1200Gly)
c.3467A>G (p.Asp1156Gly)
c.3335A>G (p.Asp1112Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436200A>TCA408563165ASXL1c.3488A>T (p.Asp1163Val)
c.3305A>T (p.Asp1102Val)
n.5841A>T
c.1869+1619A>T (n.1869+1619A>T)
c.3473A>T (p.Asp1158Val)
c.3485A>T (p.Asp1162Val)
c.3458A>T (p.Asp1153Val)
c.3404A>T (p.Asp1135Val)
c.2804A>T (p.Asp935Val)
c.3752A>T (p.Asp1251Val)
c.3749A>T (p.Asp1250Val)
c.3668A>T (p.Asp1223Val)
c.3599A>T (p.Asp1200Val)
c.3467A>T (p.Asp1156Val)
c.3335A>T (p.Asp1112Val)
20g.32436201T>ACA408563166ASXL1c.3489T>A (p.Asp1163Glu)
c.3306T>A (p.Asp1102Glu)
n.5842T>A
c.1869+1620T>A (n.1869+1620T>A)
c.3474T>A (p.Asp1158Glu)
c.3486T>A (p.Asp1162Glu)
c.3459T>A (p.Asp1153Glu)
c.3405T>A (p.Asp1135Glu)
c.2805T>A (p.Asp935Glu)
c.3753T>A (p.Asp1251Glu)
c.3750T>A (p.Asp1250Glu)
c.3669T>A (p.Asp1223Glu)
c.3600T>A (p.Asp1200Glu)
c.3468T>A (p.Asp1156Glu)
c.3336T>A (p.Asp1112Glu)
20g.32436201T>CCA510467279ASXL1c.3489T>C (p.Asp1163=)
c.3306T>C (p.Asp1102=)
n.5842T>C
c.1869+1620T>C (n.1869+1620T>C)
c.3474T>C (p.Asp1158=)
c.3486T>C (p.Asp1162=)
c.3459T>C (p.Asp1153=)
c.3405T>C (p.Asp1135=)
c.2805T>C (p.Asp935=)
c.3753T>C (p.Asp1251=)
c.3750T>C (p.Asp1250=)
c.3669T>C (p.Asp1223=)
c.3600T>C (p.Asp1200=)
c.3468T>C (p.Asp1156=)
c.3336T>C (p.Asp1112=)
20g.32436201T>GCA408563167ASXL1c.3489T>G (p.Asp1163Glu)
c.3306T>G (p.Asp1102Glu)
n.5842T>G
c.1869+1620T>G (n.1869+1620T>G)
c.3474T>G (p.Asp1158Glu)
c.3486T>G (p.Asp1162Glu)
c.3459T>G (p.Asp1153Glu)
c.3405T>G (p.Asp1135Glu)
c.2805T>G (p.Asp935Glu)
c.3753T>G (p.Asp1251Glu)
c.3750T>G (p.Asp1250Glu)
c.3669T>G (p.Asp1223Glu)
c.3600T>G (p.Asp1200Glu)
c.3468T>G (p.Asp1156Glu)
c.3336T>G (p.Asp1112Glu)
20g.32436202G>ACA408563170ASXL1c.3490G>A (p.Gly1164Arg)
c.3307G>A (p.Gly1103Arg)
n.5843G>A
c.1869+1621G>A (n.1869+1621G>A)
c.3475G>A (p.Gly1159Arg)
c.3487G>A (p.Gly1163Arg)
c.3460G>A (p.Gly1154Arg)
c.3406G>A (p.Gly1136Arg)
c.2806G>A (p.Gly936Arg)
c.3754G>A (p.Gly1252Arg)
c.3751G>A (p.Gly1251Arg)
c.3670G>A (p.Gly1224Arg)
c.3601G>A (p.Gly1201Arg)
c.3469G>A (p.Gly1157Arg)
c.3337G>A (p.Gly1113Arg)
 dbSNP
20g.32436202G>CCA408563169ASXL1c.3490G>C (p.Gly1164Arg)
c.3307G>C (p.Gly1103Arg)
n.5843G>C
c.1869+1621G>C (n.1869+1621G>C)
c.3475G>C (p.Gly1159Arg)
c.3487G>C (p.Gly1163Arg)
c.3460G>C (p.Gly1154Arg)
c.3406G>C (p.Gly1136Arg)
c.2806G>C (p.Gly936Arg)
c.3754G>C (p.Gly1252Arg)
c.3751G>C (p.Gly1251Arg)
c.3670G>C (p.Gly1224Arg)
c.3601G>C (p.Gly1201Arg)
c.3469G>C (p.Gly1157Arg)
c.3337G>C (p.Gly1113Arg)
 gnomAD v4
20g.32436202G>TCA408563168ASXL1c.3490G>T (p.Gly1164Ter)
c.3307G>T (p.Gly1103Ter)
n.5843G>T
c.1869+1621G>T (n.1869+1621G>T)
c.3475G>T (p.Gly1159Ter)
c.3487G>T (p.Gly1163Ter)
c.3460G>T (p.Gly1154Ter)
c.3406G>T (p.Gly1136Ter)
c.2806G>T (p.Gly936Ter)
c.3754G>T (p.Gly1252Ter)
c.3751G>T (p.Gly1251Ter)
c.3670G>T (p.Gly1224Ter)
c.3601G>T (p.Gly1201Ter)
c.3469G>T (p.Gly1157Ter)
c.3337G>T (p.Gly1113Ter)
20g.32436203G>ACA408563171ASXL1c.3491G>A (p.Gly1164Glu)
c.3308G>A (p.Gly1103Glu)
n.5844G>A
c.1869+1622G>A (n.1869+1622G>A)
c.3476G>A (p.Gly1159Glu)
c.3488G>A (p.Gly1163Glu)
c.3461G>A (p.Gly1154Glu)
c.3407G>A (p.Gly1136Glu)
c.2807G>A (p.Gly936Glu)
c.3755G>A (p.Gly1252Glu)
c.3752G>A (p.Gly1251Glu)
c.3671G>A (p.Gly1224Glu)
c.3602G>A (p.Gly1201Glu)
c.3470G>A (p.Gly1157Glu)
c.3338G>A (p.Gly1113Glu)
 dbSNP
20g.32436203G>CCA408563173ASXL1c.3491G>C (p.Gly1164Ala)
c.3308G>C (p.Gly1103Ala)
n.5844G>C
c.1869+1622G>C (n.1869+1622G>C)
c.3476G>C (p.Gly1159Ala)
c.3488G>C (p.Gly1163Ala)
c.3461G>C (p.Gly1154Ala)
c.3407G>C (p.Gly1136Ala)
c.2807G>C (p.Gly936Ala)
c.3755G>C (p.Gly1252Ala)
c.3752G>C (p.Gly1251Ala)
c.3671G>C (p.Gly1224Ala)
c.3602G>C (p.Gly1201Ala)
c.3470G>C (p.Gly1157Ala)
c.3338G>C (p.Gly1113Ala)
20g.32436203G=CA2360293586ASXL1c.3491G= (p.Gly1164=)
c.3308G= (p.Gly1103=)
n.5844G=
c.1869+1622G= (n.1869+1622G=)
c.3476G= (p.Gly1159=)
c.3488G= (p.Gly1163=)
c.3461G= (p.Gly1154=)
c.3407G= (p.Gly1136=)
c.2807G= (p.Gly936=)
c.3755G= (p.Gly1252=)
c.3752G= (p.Gly1251=)
c.3671G= (p.Gly1224=)
c.3602G= (p.Gly1201=)
c.3470G= (p.Gly1157=)
c.3338G= (p.Gly1113=)
20g.32436203G>TCA408563172ASXL1c.3491G>T (p.Gly1164Val)
c.3308G>T (p.Gly1103Val)
n.5844G>T
c.1869+1622G>T (n.1869+1622G>T)
c.3476G>T (p.Gly1159Val)
c.3488G>T (p.Gly1163Val)
c.3461G>T (p.Gly1154Val)
c.3407G>T (p.Gly1136Val)
c.2807G>T (p.Gly936Val)
c.3755G>T (p.Gly1252Val)
c.3752G>T (p.Gly1251Val)
c.3671G>T (p.Gly1224Val)
c.3602G>T (p.Gly1201Val)
c.3470G>T (p.Gly1157Val)
c.3338G>T (p.Gly1113Val)
 gnomAD v4
20g.32436204A=CA2360293587ASXL1c.3492A= (p.Gly1164=)
c.3309A= (p.Gly1103=)
n.5845A=
c.1869+1623A= (n.1869+1623A=)
c.3477A= (p.Gly1159=)
c.3489A= (p.Gly1163=)
c.3462A= (p.Gly1154=)
c.3408A= (p.Gly1136=)
c.2808A= (p.Gly936=)
c.3756A= (p.Gly1252=)
c.3753A= (p.Gly1251=)
c.3672A= (p.Gly1224=)
c.3603A= (p.Gly1201=)
c.3471A= (p.Gly1157=)
c.3339A= (p.Gly1113=)
20g.32436204A>CCA510467280ASXL1c.3492A>C (p.Gly1164=)
c.3309A>C (p.Gly1103=)
n.5845A>C
c.1869+1623A>C (n.1869+1623A>C)
c.3477A>C (p.Gly1159=)
c.3489A>C (p.Gly1163=)
c.3462A>C (p.Gly1154=)
c.3408A>C (p.Gly1136=)
c.2808A>C (p.Gly936=)
c.3756A>C (p.Gly1252=)
c.3753A>C (p.Gly1251=)
c.3672A>C (p.Gly1224=)
c.3603A>C (p.Gly1201=)
c.3471A>C (p.Gly1157=)
c.3339A>C (p.Gly1113=)
20g.32436204A>GCA510467281ASXL1c.3492A>G (p.Gly1164=)
c.3309A>G (p.Gly1103=)
n.5845A>G
c.1869+1623A>G (n.1869+1623A>G)
c.3477A>G (p.Gly1159=)
c.3489A>G (p.Gly1163=)
c.3462A>G (p.Gly1154=)
c.3408A>G (p.Gly1136=)
c.2808A>G (p.Gly936=)
c.3756A>G (p.Gly1252=)
c.3753A>G (p.Gly1251=)
c.3672A>G (p.Gly1224=)
c.3603A>G (p.Gly1201=)
c.3471A>G (p.Gly1157=)
c.3339A>G (p.Gly1113=)
20g.32436204A>TCA510467282ASXL1c.3492A>T (p.Gly1164=)
c.3309A>T (p.Gly1103=)
n.5845A>T
c.1869+1623A>T (n.1869+1623A>T)
c.3477A>T (p.Gly1159=)
c.3489A>T (p.Gly1163=)
c.3462A>T (p.Gly1154=)
c.3408A>T (p.Gly1136=)
c.2808A>T (p.Gly936=)
c.3756A>T (p.Gly1252=)
c.3753A>T (p.Gly1251=)
c.3672A>T (p.Gly1224=)
c.3603A>T (p.Gly1201=)
c.3471A>T (p.Gly1157=)
c.3339A>T (p.Gly1113=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436205A>CCA408563174ASXL1c.3493A>C (p.Ser1165Arg)
c.3310A>C (p.Ser1104Arg)
n.5846A>C
c.1869+1624A>C (n.1869+1624A>C)
c.3478A>C (p.Ser1160Arg)
c.3490A>C (p.Ser1164Arg)
c.3463A>C (p.Ser1155Arg)
c.3409A>C (p.Ser1137Arg)
c.2809A>C (p.Ser937Arg)
c.3757A>C (p.Ser1253Arg)
c.3754A>C (p.Ser1252Arg)
c.3673A>C (p.Ser1225Arg)
c.3604A>C (p.Ser1202Arg)
c.3472A>C (p.Ser1158Arg)
c.3340A>C (p.Ser1114Arg)
20g.32436205A>GCA408563176ASXL1c.3493A>G (p.Ser1165Gly)
c.3310A>G (p.Ser1104Gly)
n.5846A>G
c.1869+1624A>G (n.1869+1624A>G)
c.3478A>G (p.Ser1160Gly)
c.3490A>G (p.Ser1164Gly)
c.3463A>G (p.Ser1155Gly)
c.3409A>G (p.Ser1137Gly)
c.2809A>G (p.Ser937Gly)
c.3757A>G (p.Ser1253Gly)
c.3754A>G (p.Ser1252Gly)
c.3673A>G (p.Ser1225Gly)
c.3604A>G (p.Ser1202Gly)
c.3472A>G (p.Ser1158Gly)
c.3340A>G (p.Ser1114Gly)
20g.32436205A>TCA408563175ASXL1c.3493A>T (p.Ser1165Cys)
c.3310A>T (p.Ser1104Cys)
n.5846A>T
c.1869+1624A>T (n.1869+1624A>T)
c.3478A>T (p.Ser1160Cys)
c.3490A>T (p.Ser1164Cys)
c.3463A>T (p.Ser1155Cys)
c.3409A>T (p.Ser1137Cys)
c.2809A>T (p.Ser937Cys)
c.3757A>T (p.Ser1253Cys)
c.3754A>T (p.Ser1252Cys)
c.3673A>T (p.Ser1225Cys)
c.3604A>T (p.Ser1202Cys)
c.3472A>T (p.Ser1158Cys)
c.3340A>T (p.Ser1114Cys)
20g.32436206G>ACA408563177ASXL1c.3494G>A (p.Ser1165Asn)
c.3311G>A (p.Ser1104Asn)
n.5847G>A
c.1869+1625G>A (n.1869+1625G>A)
c.3479G>A (p.Ser1160Asn)
c.3491G>A (p.Ser1164Asn)
c.3464G>A (p.Ser1155Asn)
c.3410G>A (p.Ser1137Asn)
c.2810G>A (p.Ser937Asn)
c.3758G>A (p.Ser1253Asn)
c.3755G>A (p.Ser1252Asn)
c.3674G>A (p.Ser1225Asn)
c.3605G>A (p.Ser1202Asn)
c.3473G>A (p.Ser1158Asn)
c.3341G>A (p.Ser1114Asn)
20g.32436206G>CCA408563178ASXL1c.3494G>C (p.Ser1165Thr)
c.3311G>C (p.Ser1104Thr)
n.5847G>C
c.1869+1625G>C (n.1869+1625G>C)
c.3479G>C (p.Ser1160Thr)
c.3491G>C (p.Ser1164Thr)
c.3464G>C (p.Ser1155Thr)
c.3410G>C (p.Ser1137Thr)
c.2810G>C (p.Ser937Thr)
c.3758G>C (p.Ser1253Thr)
c.3755G>C (p.Ser1252Thr)
c.3674G>C (p.Ser1225Thr)
c.3605G>C (p.Ser1202Thr)
c.3473G>C (p.Ser1158Thr)
c.3341G>C (p.Ser1114Thr)
20g.32436206G>TCA408563179ASXL1c.3494G>T (p.Ser1165Ile)
c.3311G>T (p.Ser1104Ile)
n.5847G>T
c.1869+1625G>T (n.1869+1625G>T)
c.3479G>T (p.Ser1160Ile)
c.3491G>T (p.Ser1164Ile)
c.3464G>T (p.Ser1155Ile)
c.3410G>T (p.Ser1137Ile)
c.2810G>T (p.Ser937Ile)
c.3758G>T (p.Ser1253Ile)
c.3755G>T (p.Ser1252Ile)
c.3674G>T (p.Ser1225Ile)
c.3605G>T (p.Ser1202Ile)
c.3473G>T (p.Ser1158Ile)
c.3341G>T (p.Ser1114Ile)
20g.32436207C>ACA408563180ASXL1c.3495C>A (p.Ser1165Arg)
c.3312C>A (p.Ser1104Arg)
n.5848C>A
c.1869+1626C>A (n.1869+1626C>A)
c.3480C>A (p.Ser1160Arg)
c.3492C>A (p.Ser1164Arg)
c.3465C>A (p.Ser1155Arg)
c.3411C>A (p.Ser1137Arg)
c.2811C>A (p.Ser937Arg)
c.3759C>A (p.Ser1253Arg)
c.3756C>A (p.Ser1252Arg)
c.3675C>A (p.Ser1225Arg)
c.3606C>A (p.Ser1202Arg)
c.3474C>A (p.Ser1158Arg)
c.3342C>A (p.Ser1114Arg)
20g.32436207C>GCA408563181ASXL1c.3495C>G (p.Ser1165Arg)
c.3312C>G (p.Ser1104Arg)
n.5848C>G
c.1869+1626C>G (n.1869+1626C>G)
c.3480C>G (p.Ser1160Arg)
c.3492C>G (p.Ser1164Arg)
c.3465C>G (p.Ser1155Arg)
c.3411C>G (p.Ser1137Arg)
c.2811C>G (p.Ser937Arg)
c.3759C>G (p.Ser1253Arg)
c.3756C>G (p.Ser1252Arg)
c.3675C>G (p.Ser1225Arg)
c.3606C>G (p.Ser1202Arg)
c.3474C>G (p.Ser1158Arg)
c.3342C>G (p.Ser1114Arg)
20g.32436207C>TCA510467283ASXL1c.3495C>T (p.Ser1165=)
c.3312C>T (p.Ser1104=)
n.5848C>T
c.1869+1626C>T (n.1869+1626C>T)
c.3480C>T (p.Ser1160=)
c.3492C>T (p.Ser1164=)
c.3465C>T (p.Ser1155=)
c.3411C>T (p.Ser1137=)
c.2811C>T (p.Ser937=)
c.3759C>T (p.Ser1253=)
c.3756C>T (p.Ser1252=)
c.3675C>T (p.Ser1225=)
c.3606C>T (p.Ser1202=)
c.3474C>T (p.Ser1158=)
c.3342C>T (p.Ser1114=)
 dbSNP
20g.32436208A>CCA408563182ASXL1c.3496A>C (p.Ser1166Arg)
c.3313A>C (p.Ser1105Arg)
n.5849A>C
c.1869+1627A>C (n.1869+1627A>C)
c.3481A>C (p.Ser1161Arg)
c.3493A>C (p.Ser1165Arg)
c.3466A>C (p.Ser1156Arg)
c.3412A>C (p.Ser1138Arg)
c.2812A>C (p.Ser938Arg)
c.3760A>C (p.Ser1254Arg)
c.3757A>C (p.Ser1253Arg)
c.3676A>C (p.Ser1226Arg)
c.3607A>C (p.Ser1203Arg)
c.3475A>C (p.Ser1159Arg)
c.3343A>C (p.Ser1115Arg)
20g.32436208A>GCA408563183ASXL1c.3496A>G (p.Ser1166Gly)
c.3313A>G (p.Ser1105Gly)
n.5849A>G
c.1869+1627A>G (n.1869+1627A>G)
c.3481A>G (p.Ser1161Gly)
c.3493A>G (p.Ser1165Gly)
c.3466A>G (p.Ser1156Gly)
c.3412A>G (p.Ser1138Gly)
c.2812A>G (p.Ser938Gly)
c.3760A>G (p.Ser1254Gly)
c.3757A>G (p.Ser1253Gly)
c.3676A>G (p.Ser1226Gly)
c.3607A>G (p.Ser1203Gly)
c.3475A>G (p.Ser1159Gly)
c.3343A>G (p.Ser1115Gly)
20g.32436208A>TCA408563184ASXL1c.3496A>T (p.Ser1166Cys)
c.3313A>T (p.Ser1105Cys)
n.5849A>T
c.1869+1627A>T (n.1869+1627A>T)
c.3481A>T (p.Ser1161Cys)
c.3493A>T (p.Ser1165Cys)
c.3466A>T (p.Ser1156Cys)
c.3412A>T (p.Ser1138Cys)
c.2812A>T (p.Ser938Cys)
c.3760A>T (p.Ser1254Cys)
c.3757A>T (p.Ser1253Cys)
c.3676A>T (p.Ser1226Cys)
c.3607A>T (p.Ser1203Cys)
c.3475A>T (p.Ser1159Cys)
c.3343A>T (p.Ser1115Cys)
20g.32436209G>ACA408563185ASXL1c.3497G>A (p.Ser1166Asn)
c.3314G>A (p.Ser1105Asn)
n.5850G>A
c.1869+1628G>A (n.1869+1628G>A)
c.3482G>A (p.Ser1161Asn)
c.3494G>A (p.Ser1165Asn)
c.3467G>A (p.Ser1156Asn)
c.3413G>A (p.Ser1138Asn)
c.2813G>A (p.Ser938Asn)
c.3761G>A (p.Ser1254Asn)
c.3758G>A (p.Ser1253Asn)
c.3677G>A (p.Ser1226Asn)
c.3608G>A (p.Ser1203Asn)
c.3476G>A (p.Ser1159Asn)
c.3344G>A (p.Ser1115Asn)
 dbSNP
20g.32436209G>CCA408563186ASXL1c.3497G>C (p.Ser1166Thr)
c.3314G>C (p.Ser1105Thr)
n.5850G>C
c.1869+1628G>C (n.1869+1628G>C)
c.3482G>C (p.Ser1161Thr)
c.3494G>C (p.Ser1165Thr)
c.3467G>C (p.Ser1156Thr)
c.3413G>C (p.Ser1138Thr)
c.2813G>C (p.Ser938Thr)
c.3761G>C (p.Ser1254Thr)
c.3758G>C (p.Ser1253Thr)
c.3677G>C (p.Ser1226Thr)
c.3608G>C (p.Ser1203Thr)
c.3476G>C (p.Ser1159Thr)
c.3344G>C (p.Ser1115Thr)
20g.32436209G>TCA408563187ASXL1c.3497G>T (p.Ser1166Ile)
c.3314G>T (p.Ser1105Ile)
n.5850G>T
c.1869+1628G>T (n.1869+1628G>T)
c.3482G>T (p.Ser1161Ile)
c.3494G>T (p.Ser1165Ile)
c.3467G>T (p.Ser1156Ile)
c.3413G>T (p.Ser1138Ile)
c.2813G>T (p.Ser938Ile)
c.3761G>T (p.Ser1254Ile)
c.3758G>T (p.Ser1253Ile)
c.3677G>T (p.Ser1226Ile)
c.3608G>T (p.Ser1203Ile)
c.3476G>T (p.Ser1159Ile)
c.3344G>T (p.Ser1115Ile)
20g.32436210C>ACA408563188ASXL1c.3498C>A (p.Ser1166Arg)
c.3315C>A (p.Ser1105Arg)
n.5851C>A
c.1869+1629C>A (n.1869+1629C>A)
c.3483C>A (p.Ser1161Arg)
c.3495C>A (p.Ser1165Arg)
c.3468C>A (p.Ser1156Arg)
c.3414C>A (p.Ser1138Arg)
c.2814C>A (p.Ser938Arg)
c.3762C>A (p.Ser1254Arg)
c.3759C>A (p.Ser1253Arg)
c.3678C>A (p.Ser1226Arg)
c.3609C>A (p.Ser1203Arg)
c.3477C>A (p.Ser1159Arg)
c.3345C>A (p.Ser1115Arg)
20g.32436210C=CA2360293588ASXL1c.3498C= (p.Ser1166=)
c.3315C= (p.Ser1105=)
n.5851C=
c.1869+1629C= (n.1869+1629C=)
c.3483C= (p.Ser1161=)
c.3495C= (p.Ser1165=)
c.3468C= (p.Ser1156=)
c.3414C= (p.Ser1138=)
c.2814C= (p.Ser938=)
c.3762C= (p.Ser1254=)
c.3759C= (p.Ser1253=)
c.3678C= (p.Ser1226=)
c.3609C= (p.Ser1203=)
c.3477C= (p.Ser1159=)
c.3345C= (p.Ser1115=)
20g.32436210C>GCA157005ASXL1c.3498C>G (p.Ser1166Arg)
c.3315C>G (p.Ser1105Arg)
n.5851C>G
c.1869+1629C>G (n.1869+1629C>G)
c.3483C>G (p.Ser1161Arg)
c.3495C>G (p.Ser1165Arg)
c.3468C>G (p.Ser1156Arg)
c.3414C>G (p.Ser1138Arg)
c.2814C>G (p.Ser938Arg)
c.3762C>G (p.Ser1254Arg)
c.3759C>G (p.Ser1253Arg)
c.3678C>G (p.Ser1226Arg)
c.3609C>G (p.Ser1203Arg)
c.3477C>G (p.Ser1159Arg)
c.3345C>G (p.Ser1115Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436210C>TCA510467284ASXL1c.3498C>T (p.Ser1166=)
c.3315C>T (p.Ser1105=)
n.5851C>T
c.1869+1629C>T (n.1869+1629C>T)
c.3483C>T (p.Ser1161=)
c.3495C>T (p.Ser1165=)
c.3468C>T (p.Ser1156=)
c.3414C>T (p.Ser1138=)
c.2814C>T (p.Ser938=)
c.3762C>T (p.Ser1254=)
c.3759C>T (p.Ser1253=)
c.3678C>T (p.Ser1226=)
c.3609C>T (p.Ser1203=)
c.3477C>T (p.Ser1159=)
c.3345C>T (p.Ser1115=)
 dbSNP
20g.32436210_32436211insGGGCCCAGAGAATCA891842350ASXL1c.3498_3499insGGGCCCAGAGAAT (p.Pro1167GlyfsTer19)
c.3315_3316insGGGCCCAGAGAAT (p.Pro1106GlyfsTer19)
n.5851_5852insGGGCCCAGAGAAT
c.1869+1629_1869+1630insGGGCCCAGAGAAT (n.1869+1629_1869+1630insGGGCCCAGAGAAT)
c.3483_3484insGGGCCCAGAGAAT (p.Pro1162GlyfsTer19)
c.3495_3496insGGGCCCAGAGAAT (p.Pro1166GlyfsTer19)
c.3468_3469insGGGCCCAGAGAAT (p.Pro1157GlyfsTer19)
c.3414_3415insGGGCCCAGAGAAT (p.Pro1139GlyfsTer19)
c.2814_2815insGGGCCCAGAGAAT (p.Pro939GlyfsTer19)
c.3762_3763insGGGCCCAGAGAAT (p.Pro1255GlyfsTer19)
c.3759_3760insGGGCCCAGAGAAT (p.Pro1254GlyfsTer19)
c.3678_3679insGGGCCCAGAGAAT (p.Pro1227GlyfsTer19)
c.3609_3610insGGGCCCAGAGAAT (p.Pro1204GlyfsTer19)
c.3477_3478insGGGCCCAGAGAAT (p.Pro1160GlyfsTer19)
c.3345_3346insGGGCCCAGAGAAT (p.Pro1116GlyfsTer19)
20g.32436211C>ACA408563189ASXL1c.3499C>A (p.Pro1167Thr)
c.3316C>A (p.Pro1106Thr)
n.5852C>A
c.1869+1630C>A (n.1869+1630C>A)
c.3484C>A (p.Pro1162Thr)
c.3496C>A (p.Pro1166Thr)
c.3469C>A (p.Pro1157Thr)
c.3415C>A (p.Pro1139Thr)
c.2815C>A (p.Pro939Thr)
c.3763C>A (p.Pro1255Thr)
c.3760C>A (p.Pro1254Thr)
c.3679C>A (p.Pro1227Thr)
c.3610C>A (p.Pro1204Thr)
c.3478C>A (p.Pro1160Thr)
c.3346C>A (p.Pro1116Thr)
 dbSNP
20g.32436211C=CA2360293589ASXL1c.3499C= (p.Pro1167=)
c.3316C= (p.Pro1106=)
n.5852C=
c.1869+1630C= (n.1869+1630C=)
c.3484C= (p.Pro1162=)
c.3496C= (p.Pro1166=)
c.3469C= (p.Pro1157=)
c.3415C= (p.Pro1139=)
c.2815C= (p.Pro939=)
c.3763C= (p.Pro1255=)
c.3760C= (p.Pro1254=)
c.3679C= (p.Pro1227=)
c.3610C= (p.Pro1204=)
c.3478C= (p.Pro1160=)
c.3346C= (p.Pro1116=)
20g.32436211C>GCA408563190ASXL1c.3499C>G (p.Pro1167Ala)
c.3316C>G (p.Pro1106Ala)
n.5852C>G
c.1869+1630C>G (n.1869+1630C>G)
c.3484C>G (p.Pro1162Ala)
c.3496C>G (p.Pro1166Ala)
c.3469C>G (p.Pro1157Ala)
c.3415C>G (p.Pro1139Ala)
c.2815C>G (p.Pro939Ala)
c.3763C>G (p.Pro1255Ala)
c.3760C>G (p.Pro1254Ala)
c.3679C>G (p.Pro1227Ala)
c.3610C>G (p.Pro1204Ala)
c.3478C>G (p.Pro1160Ala)
c.3346C>G (p.Pro1116Ala)
 dbSNP gnomAD v4
20g.32436211C>TCA408563191ASXL1c.3499C>T (p.Pro1167Ser)
c.3316C>T (p.Pro1106Ser)
n.5852C>T
c.1869+1630C>T (n.1869+1630C>T)
c.3484C>T (p.Pro1162Ser)
c.3496C>T (p.Pro1166Ser)
c.3469C>T (p.Pro1157Ser)
c.3415C>T (p.Pro1139Ser)
c.2815C>T (p.Pro939Ser)
c.3763C>T (p.Pro1255Ser)
c.3760C>T (p.Pro1254Ser)
c.3679C>T (p.Pro1227Ser)
c.3610C>T (p.Pro1204Ser)
c.3478C>T (p.Pro1160Ser)
c.3346C>T (p.Pro1116Ser)
20g.32436212C>ACA408563192ASXL1c.3500C>A (p.Pro1167His)
c.3317C>A (p.Pro1106His)
n.5853C>A
c.1869+1631C>A (n.1869+1631C>A)
c.3485C>A (p.Pro1162His)
c.3497C>A (p.Pro1166His)
c.3470C>A (p.Pro1157His)
c.3416C>A (p.Pro1139His)
c.2816C>A (p.Pro939His)
c.3764C>A (p.Pro1255His)
c.3761C>A (p.Pro1254His)
c.3680C>A (p.Pro1227His)
c.3611C>A (p.Pro1204His)
c.3479C>A (p.Pro1160His)
c.3347C>A (p.Pro1116His)
20g.32436212C>GCA408563193ASXL1c.3500C>G (p.Pro1167Arg)
c.3317C>G (p.Pro1106Arg)
n.5853C>G
c.1869+1631C>G (n.1869+1631C>G)
c.3485C>G (p.Pro1162Arg)
c.3497C>G (p.Pro1166Arg)
c.3470C>G (p.Pro1157Arg)
c.3416C>G (p.Pro1139Arg)
c.2816C>G (p.Pro939Arg)
c.3764C>G (p.Pro1255Arg)
c.3761C>G (p.Pro1254Arg)
c.3680C>G (p.Pro1227Arg)
c.3611C>G (p.Pro1204Arg)
c.3479C>G (p.Pro1160Arg)
c.3347C>G (p.Pro1116Arg)
20g.32436212C>TCA408563194ASXL1c.3500C>T (p.Pro1167Leu)
c.3317C>T (p.Pro1106Leu)
n.5853C>T
c.1869+1631C>T (n.1869+1631C>T)
c.3485C>T (p.Pro1162Leu)
c.3497C>T (p.Pro1166Leu)
c.3470C>T (p.Pro1157Leu)
c.3416C>T (p.Pro1139Leu)
c.2816C>T (p.Pro939Leu)
c.3764C>T (p.Pro1255Leu)
c.3761C>T (p.Pro1254Leu)
c.3680C>T (p.Pro1227Leu)
c.3611C>T (p.Pro1204Leu)
c.3479C>T (p.Pro1160Leu)
c.3347C>T (p.Pro1116Leu)
 dbSNP
20g.32436213C>ACA510467285ASXL1c.3501C>A (p.Pro1167=)
c.3318C>A (p.Pro1106=)
n.5854C>A
c.1869+1632C>A (n.1869+1632C>A)
c.3486C>A (p.Pro1162=)
c.3498C>A (p.Pro1166=)
c.3471C>A (p.Pro1157=)
c.3417C>A (p.Pro1139=)
c.2817C>A (p.Pro939=)
c.3765C>A (p.Pro1255=)
c.3762C>A (p.Pro1254=)
c.3681C>A (p.Pro1227=)
c.3612C>A (p.Pro1204=)
c.3480C>A (p.Pro1160=)
c.3348C>A (p.Pro1116=)
20g.32436213C=CA2360293590ASXL1c.3501C= (p.Pro1167=)
c.3318C= (p.Pro1106=)
n.5854C=
c.1869+1632C= (n.1869+1632C=)
c.3486C= (p.Pro1162=)
c.3498C= (p.Pro1166=)
c.3471C= (p.Pro1157=)
c.3417C= (p.Pro1139=)
c.2817C= (p.Pro939=)
c.3765C= (p.Pro1255=)
c.3762C= (p.Pro1254=)
c.3681C= (p.Pro1227=)
c.3612C= (p.Pro1204=)
c.3480C= (p.Pro1160=)
c.3348C= (p.Pro1116=)
20g.32436213C>GCA510467286ASXL1c.3501C>G (p.Pro1167=)
c.3318C>G (p.Pro1106=)
n.5854C>G
c.1869+1632C>G (n.1869+1632C>G)
c.3486C>G (p.Pro1162=)
c.3498C>G (p.Pro1166=)
c.3471C>G (p.Pro1157=)
c.3417C>G (p.Pro1139=)
c.2817C>G (p.Pro939=)
c.3765C>G (p.Pro1255=)
c.3762C>G (p.Pro1254=)
c.3681C>G (p.Pro1227=)
c.3612C>G (p.Pro1204=)
c.3480C>G (p.Pro1160=)
c.3348C>G (p.Pro1116=)
20g.32436213C>TCA510467287ASXL1c.3501C>T (p.Pro1167=)
c.3318C>T (p.Pro1106=)
n.5854C>T
c.1869+1632C>T (n.1869+1632C>T)
c.3486C>T (p.Pro1162=)
c.3498C>T (p.Pro1166=)
c.3471C>T (p.Pro1157=)
c.3417C>T (p.Pro1139=)
c.2817C>T (p.Pro939=)
c.3765C>T (p.Pro1255=)
c.3762C>T (p.Pro1254=)
c.3681C>T (p.Pro1227=)
c.3612C>T (p.Pro1204=)
c.3480C>T (p.Pro1160=)
c.3348C>T (p.Pro1116=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436214delCA2577366313ASXL1c.3502del (p.Ser1168ValfsTer3)
c.3319del (p.Ser1107ValfsTer3)
n.5855del
c.1869+1633del (n.1869+1633del)
c.3487del (p.Ser1163ValfsTer3)
c.3499del (p.Ser1167ValfsTer3)
c.3472del (p.Ser1158ValfsTer3)
c.3418del (p.Ser1140ValfsTer3)
c.2818del (p.Ser940ValfsTer3)
c.3766del (p.Ser1256ValfsTer3)
c.3763del (p.Ser1255ValfsTer3)
c.3682del (p.Ser1228ValfsTer3)
c.3613del (p.Ser1205ValfsTer3)
c.3481del (p.Ser1161ValfsTer3)
c.3349del (p.Ser1117ValfsTer3)
20g.32436214A=CA2360293591ASXL1c.3502A= (p.Ser1168=)
c.3319A= (p.Ser1107=)
n.5855A=
c.1869+1633A= (n.1869+1633A=)
c.3487A= (p.Ser1163=)
c.3499A= (p.Ser1167=)
c.3472A= (p.Ser1158=)
c.3418A= (p.Ser1140=)
c.2818A= (p.Ser940=)
c.3766A= (p.Ser1256=)
c.3763A= (p.Ser1255=)
c.3682A= (p.Ser1228=)
c.3613A= (p.Ser1205=)
c.3481A= (p.Ser1161=)
c.3349A= (p.Ser1117=)
20g.32436214A>CCA408563195ASXL1c.3502A>C (p.Ser1168Arg)
c.3319A>C (p.Ser1107Arg)
n.5855A>C
c.1869+1633A>C (n.1869+1633A>C)
c.3487A>C (p.Ser1163Arg)
c.3499A>C (p.Ser1167Arg)
c.3472A>C (p.Ser1158Arg)
c.3418A>C (p.Ser1140Arg)
c.2818A>C (p.Ser940Arg)
c.3766A>C (p.Ser1256Arg)
c.3763A>C (p.Ser1255Arg)
c.3682A>C (p.Ser1228Arg)
c.3613A>C (p.Ser1205Arg)
c.3481A>C (p.Ser1161Arg)
c.3349A>C (p.Ser1117Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436214A>GCA408563196ASXL1c.3502A>G (p.Ser1168Gly)
c.3319A>G (p.Ser1107Gly)
n.5855A>G
c.1869+1633A>G (n.1869+1633A>G)
c.3487A>G (p.Ser1163Gly)
c.3499A>G (p.Ser1167Gly)
c.3472A>G (p.Ser1158Gly)
c.3418A>G (p.Ser1140Gly)
c.2818A>G (p.Ser940Gly)
c.3766A>G (p.Ser1256Gly)
c.3763A>G (p.Ser1255Gly)
c.3682A>G (p.Ser1228Gly)
c.3613A>G (p.Ser1205Gly)
c.3481A>G (p.Ser1161Gly)
c.3349A>G (p.Ser1117Gly)
20g.32436214A>TCA408563197ASXL1c.3502A>T (p.Ser1168Cys)
c.3319A>T (p.Ser1107Cys)
n.5855A>T
c.1869+1633A>T (n.1869+1633A>T)
c.3487A>T (p.Ser1163Cys)
c.3499A>T (p.Ser1167Cys)
c.3472A>T (p.Ser1158Cys)
c.3418A>T (p.Ser1140Cys)
c.2818A>T (p.Ser940Cys)
c.3766A>T (p.Ser1256Cys)
c.3763A>T (p.Ser1255Cys)
c.3682A>T (p.Ser1228Cys)
c.3613A>T (p.Ser1205Cys)
c.3481A>T (p.Ser1161Cys)
c.3349A>T (p.Ser1117Cys)
 gnomAD v4
20g.32436215G>ACA408563198ASXL1c.3503G>A (p.Ser1168Asn)
c.3320G>A (p.Ser1107Asn)
n.5856G>A
c.1869+1634G>A (n.1869+1634G>A)
c.3488G>A (p.Ser1163Asn)
c.3500G>A (p.Ser1167Asn)
c.3473G>A (p.Ser1158Asn)
c.3419G>A (p.Ser1140Asn)
c.2819G>A (p.Ser940Asn)
c.3767G>A (p.Ser1256Asn)
c.3764G>A (p.Ser1255Asn)
c.3683G>A (p.Ser1228Asn)
c.3614G>A (p.Ser1205Asn)
c.3482G>A (p.Ser1161Asn)
c.3350G>A (p.Ser1117Asn)
20g.32436215G>CCA157041ASXL1c.3503G>C (p.Ser1168Thr)
c.3320G>C (p.Ser1107Thr)
n.5856G>C
c.1869+1634G>C (n.1869+1634G>C)
c.3488G>C (p.Ser1163Thr)
c.3500G>C (p.Ser1167Thr)
c.3473G>C (p.Ser1158Thr)
c.3419G>C (p.Ser1140Thr)
c.2819G>C (p.Ser940Thr)
c.3767G>C (p.Ser1256Thr)
c.3764G>C (p.Ser1255Thr)
c.3683G>C (p.Ser1228Thr)
c.3614G>C (p.Ser1205Thr)
c.3482G>C (p.Ser1161Thr)
c.3350G>C (p.Ser1117Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436215G=CA2360293592ASXL1c.3503G= (p.Ser1168=)
c.3320G= (p.Ser1107=)
n.5856G=
c.1869+1634G= (n.1869+1634G=)
c.3488G= (p.Ser1163=)
c.3500G= (p.Ser1167=)
c.3473G= (p.Ser1158=)
c.3419G= (p.Ser1140=)
c.2819G= (p.Ser940=)
c.3767G= (p.Ser1256=)
c.3764G= (p.Ser1255=)
c.3683G= (p.Ser1228=)
c.3614G= (p.Ser1205=)
c.3482G= (p.Ser1161=)
c.3350G= (p.Ser1117=)
20g.32436215G>TCA408563199ASXL1c.3503G>T (p.Ser1168Ile)
c.3320G>T (p.Ser1107Ile)
n.5856G>T
c.1869+1634G>T (n.1869+1634G>T)
c.3488G>T (p.Ser1163Ile)
c.3500G>T (p.Ser1167Ile)
c.3473G>T (p.Ser1158Ile)
c.3419G>T (p.Ser1140Ile)
c.2819G>T (p.Ser940Ile)
c.3767G>T (p.Ser1256Ile)
c.3764G>T (p.Ser1255Ile)
c.3683G>T (p.Ser1228Ile)
c.3614G>T (p.Ser1205Ile)
c.3482G>T (p.Ser1161Ile)
c.3350G>T (p.Ser1117Ile)
20g.32436216T>ACA408563201ASXL1c.3504T>A (p.Ser1168Arg)
c.3321T>A (p.Ser1107Arg)
n.5857T>A
c.1869+1635T>A (n.1869+1635T>A)
c.3489T>A (p.Ser1163Arg)
c.3501T>A (p.Ser1167Arg)
c.3474T>A (p.Ser1158Arg)
c.3420T>A (p.Ser1140Arg)
c.2820T>A (p.Ser940Arg)
c.3768T>A (p.Ser1256Arg)
c.3765T>A (p.Ser1255Arg)
c.3684T>A (p.Ser1228Arg)
c.3615T>A (p.Ser1205Arg)
c.3483T>A (p.Ser1161Arg)
c.3351T>A (p.Ser1117Arg)
20g.32436216T>CCA510467288ASXL1c.3504T>C (p.Ser1168=)
c.3321T>C (p.Ser1107=)
n.5857T>C
c.1869+1635T>C (n.1869+1635T>C)
c.3489T>C (p.Ser1163=)
c.3501T>C (p.Ser1167=)
c.3474T>C (p.Ser1158=)
c.3420T>C (p.Ser1140=)
c.2820T>C (p.Ser940=)
c.3768T>C (p.Ser1256=)
c.3765T>C (p.Ser1255=)
c.3684T>C (p.Ser1228=)
c.3615T>C (p.Ser1205=)
c.3483T>C (p.Ser1161=)
c.3351T>C (p.Ser1117=)
20g.32436216T>GCA408563200ASXL1c.3504T>G (p.Ser1168Arg)
c.3321T>G (p.Ser1107Arg)
n.5857T>G
c.1869+1635T>G (n.1869+1635T>G)
c.3489T>G (p.Ser1163Arg)
c.3501T>G (p.Ser1167Arg)
c.3474T>G (p.Ser1158Arg)
c.3420T>G (p.Ser1140Arg)
c.2820T>G (p.Ser940Arg)
c.3768T>G (p.Ser1256Arg)
c.3765T>G (p.Ser1255Arg)
c.3684T>G (p.Ser1228Arg)
c.3615T>G (p.Ser1205Arg)
c.3483T>G (p.Ser1161Arg)
c.3351T>G (p.Ser1117Arg)
20g.32436217delCA2577366314ASXL1c.3505del (p.Ser1169LeufsTer2)
c.3322del (p.Ser1108LeufsTer2)
n.5858del
c.1869+1636del (n.1869+1636del)
c.3490del (p.Ser1164LeufsTer2)
c.3502del (p.Ser1168LeufsTer2)
c.3475del (p.Ser1159LeufsTer2)
c.3421del (p.Ser1141LeufsTer2)
c.2821del (p.Ser941LeufsTer2)
c.3769del (p.Ser1257LeufsTer2)
c.3766del (p.Ser1256LeufsTer2)
c.3685del (p.Ser1229LeufsTer2)
c.3616del (p.Ser1206LeufsTer2)
c.3484del (p.Ser1162LeufsTer2)
c.3352del (p.Ser1118LeufsTer2)
20g.32436217T>ACA408563202ASXL1c.3505T>A (p.Ser1169Thr)
c.3322T>A (p.Ser1108Thr)
n.5858T>A
c.1869+1636T>A (n.1869+1636T>A)
c.3490T>A (p.Ser1164Thr)
c.3502T>A (p.Ser1168Thr)
c.3475T>A (p.Ser1159Thr)
c.3421T>A (p.Ser1141Thr)
c.2821T>A (p.Ser941Thr)
c.3769T>A (p.Ser1257Thr)
c.3766T>A (p.Ser1256Thr)
c.3685T>A (p.Ser1229Thr)
c.3616T>A (p.Ser1206Thr)
c.3484T>A (p.Ser1162Thr)
c.3352T>A (p.Ser1118Thr)
 dbSNP
20g.32436217T>CCA408563203ASXL1c.3505T>C (p.Ser1169Pro)
c.3322T>C (p.Ser1108Pro)
n.5858T>C
c.1869+1636T>C (n.1869+1636T>C)
c.3490T>C (p.Ser1164Pro)
c.3502T>C (p.Ser1168Pro)
c.3475T>C (p.Ser1159Pro)
c.3421T>C (p.Ser1141Pro)
c.2821T>C (p.Ser941Pro)
c.3769T>C (p.Ser1257Pro)
c.3766T>C (p.Ser1256Pro)
c.3685T>C (p.Ser1229Pro)
c.3616T>C (p.Ser1206Pro)
c.3484T>C (p.Ser1162Pro)
c.3352T>C (p.Ser1118Pro)
20g.32436217T>GCA408563204ASXL1c.3505T>G (p.Ser1169Ala)
c.3322T>G (p.Ser1108Ala)
n.5858T>G
c.1869+1636T>G (n.1869+1636T>G)
c.3490T>G (p.Ser1164Ala)
c.3502T>G (p.Ser1168Ala)
c.3475T>G (p.Ser1159Ala)
c.3421T>G (p.Ser1141Ala)
c.2821T>G (p.Ser941Ala)
c.3769T>G (p.Ser1257Ala)
c.3766T>G (p.Ser1256Ala)
c.3685T>G (p.Ser1229Ala)
c.3616T>G (p.Ser1206Ala)
c.3484T>G (p.Ser1162Ala)
c.3352T>G (p.Ser1118Ala)
20g.32436218C>ACA408563205ASXL1c.3506C>A (p.Ser1169Tyr)
c.3323C>A (p.Ser1108Tyr)
n.5859C>A
c.1869+1637C>A (n.1869+1637C>A)
c.3491C>A (p.Ser1164Tyr)
c.3503C>A (p.Ser1168Tyr)
c.3476C>A (p.Ser1159Tyr)
c.3422C>A (p.Ser1141Tyr)
c.2822C>A (p.Ser941Tyr)
c.3770C>A (p.Ser1257Tyr)
c.3767C>A (p.Ser1256Tyr)
c.3686C>A (p.Ser1229Tyr)
c.3617C>A (p.Ser1206Tyr)
c.3485C>A (p.Ser1162Tyr)
c.3353C>A (p.Ser1118Tyr)
 dbSNP gnomAD v2 gnomAD v4
20g.32436218C=CA2360293593ASXL1c.3506C= (p.Ser1169=)
c.3323C= (p.Ser1108=)
n.5859C=
c.1869+1637C= (n.1869+1637C=)
c.3491C= (p.Ser1164=)
c.3503C= (p.Ser1168=)
c.3476C= (p.Ser1159=)
c.3422C= (p.Ser1141=)
c.2822C= (p.Ser941=)
c.3770C= (p.Ser1257=)
c.3767C= (p.Ser1256=)
c.3686C= (p.Ser1229=)
c.3617C= (p.Ser1206=)
c.3485C= (p.Ser1162=)
c.3353C= (p.Ser1118=)
20g.32436218C>GCA408563206ASXL1c.3506C>G (p.Ser1169Cys)
c.3323C>G (p.Ser1108Cys)
n.5859C>G
c.1869+1637C>G (n.1869+1637C>G)
c.3491C>G (p.Ser1164Cys)
c.3503C>G (p.Ser1168Cys)
c.3476C>G (p.Ser1159Cys)
c.3422C>G (p.Ser1141Cys)
c.2822C>G (p.Ser941Cys)
c.3770C>G (p.Ser1257Cys)
c.3767C>G (p.Ser1256Cys)
c.3686C>G (p.Ser1229Cys)
c.3617C>G (p.Ser1206Cys)
c.3485C>G (p.Ser1162Cys)
c.3353C>G (p.Ser1118Cys)
20g.32436218C>TCA408563207ASXL1c.3506C>T (p.Ser1169Phe)
c.3323C>T (p.Ser1108Phe)
n.5859C>T
c.1869+1637C>T (n.1869+1637C>T)
c.3491C>T (p.Ser1164Phe)
c.3503C>T (p.Ser1168Phe)
c.3476C>T (p.Ser1159Phe)
c.3422C>T (p.Ser1141Phe)
c.2822C>T (p.Ser941Phe)
c.3770C>T (p.Ser1257Phe)
c.3767C>T (p.Ser1256Phe)
c.3686C>T (p.Ser1229Phe)
c.3617C>T (p.Ser1206Phe)
c.3485C>T (p.Ser1162Phe)
c.3353C>T (p.Ser1118Phe)
 ClinVar gnomAD v4 COSMIC COSMIC
20g.32436219T>ACA510467289ASXL1c.3507T>A (p.Ser1169=)
c.3324T>A (p.Ser1108=)
n.5860T>A
c.1869+1638T>A (n.1869+1638T>A)
c.3492T>A (p.Ser1164=)
c.3504T>A (p.Ser1168=)
c.3477T>A (p.Ser1159=)
c.3423T>A (p.Ser1141=)
c.2823T>A (p.Ser941=)
c.3771T>A (p.Ser1257=)
c.3768T>A (p.Ser1256=)
c.3687T>A (p.Ser1229=)
c.3618T>A (p.Ser1206=)
c.3486T>A (p.Ser1162=)
c.3354T>A (p.Ser1118=)
20g.32436219T>CCA510467290ASXL1c.3507T>C (p.Ser1169=)
c.3324T>C (p.Ser1108=)
n.5860T>C
c.1869+1638T>C (n.1869+1638T>C)
c.3492T>C (p.Ser1164=)
c.3504T>C (p.Ser1168=)
c.3477T>C (p.Ser1159=)
c.3423T>C (p.Ser1141=)
c.2823T>C (p.Ser941=)
c.3771T>C (p.Ser1257=)
c.3768T>C (p.Ser1256=)
c.3687T>C (p.Ser1229=)
c.3618T>C (p.Ser1206=)
c.3486T>C (p.Ser1162=)
c.3354T>C (p.Ser1118=)
20g.32436219T>GCA510467291ASXL1c.3507T>G (p.Ser1169=)
c.3324T>G (p.Ser1108=)
n.5860T>G
c.1869+1638T>G (n.1869+1638T>G)
c.3492T>G (p.Ser1164=)
c.3504T>G (p.Ser1168=)
c.3477T>G (p.Ser1159=)
c.3423T>G (p.Ser1141=)
c.2823T>G (p.Ser941=)
c.3771T>G (p.Ser1257=)
c.3768T>G (p.Ser1256=)
c.3687T>G (p.Ser1229=)
c.3618T>G (p.Ser1206=)
c.3486T>G (p.Ser1162=)
c.3354T>G (p.Ser1118=)
20g.32436221dupCA510467292ASXL1c.3509dup (p.Leu1170PhefsTer12)
c.3326dup (p.Leu1109PhefsTer12)
n.5862dup
c.1869+1640dup (n.1869+1640dup)
c.3494dup (p.Leu1165PhefsTer12)
c.3506dup (p.Leu1169PhefsTer12)
c.3479dup (p.Leu1160PhefsTer12)
c.3425dup (p.Leu1142PhefsTer12)
c.2825dup (p.Leu942PhefsTer12)
c.3773dup (p.Leu1258PhefsTer12)
c.3770dup (p.Leu1257PhefsTer12)
c.3689dup (p.Leu1230PhefsTer12)
c.3620dup (p.Leu1207PhefsTer12)
c.3488dup (p.Leu1163PhefsTer12)
c.3356dup (p.Leu1119PhefsTer12)
 COSMIC
20g.32436220T>ACA408563208ASXL1c.3508T>A (p.Leu1170Ile)
c.3325T>A (p.Leu1109Ile)
n.5861T>A
c.1869+1639T>A (n.1869+1639T>A)
c.3493T>A (p.Leu1165Ile)
c.3505T>A (p.Leu1169Ile)
c.3478T>A (p.Leu1160Ile)
c.3424T>A (p.Leu1142Ile)
c.2824T>A (p.Leu942Ile)
c.3772T>A (p.Leu1258Ile)
c.3769T>A (p.Leu1257Ile)
c.3688T>A (p.Leu1230Ile)
c.3619T>A (p.Leu1207Ile)
c.3487T>A (p.Leu1163Ile)
c.3355T>A (p.Leu1119Ile)
20g.32436220T>CCA510467293ASXL1c.3508T>C (p.Leu1170=)
c.3325T>C (p.Leu1109=)
n.5861T>C
c.1869+1639T>C (n.1869+1639T>C)
c.3493T>C (p.Leu1165=)
c.3505T>C (p.Leu1169=)
c.3478T>C (p.Leu1160=)
c.3424T>C (p.Leu1142=)
c.2824T>C (p.Leu942=)
c.3772T>C (p.Leu1258=)
c.3769T>C (p.Leu1257=)
c.3688T>C (p.Leu1230=)
c.3619T>C (p.Leu1207=)
c.3487T>C (p.Leu1163=)
c.3355T>C (p.Leu1119=)
 gnomAD v4
20g.32436220T>GCA408563209ASXL1c.3508T>G (p.Leu1170Val)
c.3325T>G (p.Leu1109Val)
n.5861T>G
c.1869+1639T>G (n.1869+1639T>G)
c.3493T>G (p.Leu1165Val)
c.3505T>G (p.Leu1169Val)
c.3478T>G (p.Leu1160Val)
c.3424T>G (p.Leu1142Val)
c.2824T>G (p.Leu942Val)
c.3772T>G (p.Leu1258Val)
c.3769T>G (p.Leu1257Val)
c.3688T>G (p.Leu1230Val)
c.3619T>G (p.Leu1207Val)
c.3487T>G (p.Leu1163Val)
c.3355T>G (p.Leu1119Val)
20g.32436221T>ACA408563210ASXL1c.3509T>A (p.Leu1170Ter)
c.3326T>A (p.Leu1109Ter)
n.5862T>A
c.1869+1640T>A (n.1869+1640T>A)
c.3494T>A (p.Leu1165Ter)
c.3506T>A (p.Leu1169Ter)
c.3479T>A (p.Leu1160Ter)
c.3425T>A (p.Leu1142Ter)
c.2825T>A (p.Leu942Ter)
c.3773T>A (p.Leu1258Ter)
c.3770T>A (p.Leu1257Ter)
c.3689T>A (p.Leu1230Ter)
c.3620T>A (p.Leu1207Ter)
c.3488T>A (p.Leu1163Ter)
c.3356T>A (p.Leu1119Ter)
20g.32436221T>CCA408563211ASXL1c.3509T>C (p.Leu1170Ser)
c.3326T>C (p.Leu1109Ser)
n.5862T>C
c.1869+1640T>C (n.1869+1640T>C)
c.3494T>C (p.Leu1165Ser)
c.3506T>C (p.Leu1169Ser)
c.3479T>C (p.Leu1160Ser)
c.3425T>C (p.Leu1142Ser)
c.2825T>C (p.Leu942Ser)
c.3773T>C (p.Leu1258Ser)
c.3770T>C (p.Leu1257Ser)
c.3689T>C (p.Leu1230Ser)
c.3620T>C (p.Leu1207Ser)
c.3488T>C (p.Leu1163Ser)
c.3356T>C (p.Leu1119Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
20g.32436221T>GCA408563212ASXL1c.3509T>G (p.Leu1170Ter)
c.3326T>G (p.Leu1109Ter)
n.5862T>G
c.1869+1640T>G (n.1869+1640T>G)
c.3494T>G (p.Leu1165Ter)
c.3506T>G (p.Leu1169Ter)
c.3479T>G (p.Leu1160Ter)
c.3425T>G (p.Leu1142Ter)
c.2825T>G (p.Leu942Ter)
c.3773T>G (p.Leu1258Ter)
c.3770T>G (p.Leu1257Ter)
c.3689T>G (p.Leu1230Ter)
c.3620T>G (p.Leu1207Ter)
c.3488T>G (p.Leu1163Ter)
c.3356T>G (p.Leu1119Ter)
20g.32436221T=CA2360293594ASXL1c.3509T= (p.Leu1170=)
c.3326T= (p.Leu1109=)
n.5862T=
c.1869+1640T= (n.1869+1640T=)
c.3494T= (p.Leu1165=)
c.3506T= (p.Leu1169=)
c.3479T= (p.Leu1160=)
c.3425T= (p.Leu1142=)
c.2825T= (p.Leu942=)
c.3773T= (p.Leu1258=)
c.3770T= (p.Leu1257=)
c.3689T= (p.Leu1230=)
c.3620T= (p.Leu1207=)
c.3488T= (p.Leu1163=)
c.3356T= (p.Leu1119=)
20g.32436222A>CCA408563213ASXL1c.3510A>C (p.Leu1170Phe)
c.3327A>C (p.Leu1109Phe)
n.5863A>C
c.1869+1641A>C (n.1869+1641A>C)
c.3495A>C (p.Leu1165Phe)
c.3507A>C (p.Leu1169Phe)
c.3480A>C (p.Leu1160Phe)
c.3426A>C (p.Leu1142Phe)
c.2826A>C (p.Leu942Phe)
c.3774A>C (p.Leu1258Phe)
c.3771A>C (p.Leu1257Phe)
c.3690A>C (p.Leu1230Phe)
c.3621A>C (p.Leu1207Phe)
c.3489A>C (p.Leu1163Phe)
c.3357A>C (p.Leu1119Phe)
20g.32436222A>GCA510467295ASXL1c.3510A>G (p.Leu1170=)
c.3327A>G (p.Leu1109=)
n.5863A>G
c.1869+1641A>G (n.1869+1641A>G)
c.3495A>G (p.Leu1165=)
c.3507A>G (p.Leu1169=)
c.3480A>G (p.Leu1160=)
c.3426A>G (p.Leu1142=)
c.2826A>G (p.Leu942=)
c.3774A>G (p.Leu1258=)
c.3771A>G (p.Leu1257=)
c.3690A>G (p.Leu1230=)
c.3621A>G (p.Leu1207=)
c.3489A>G (p.Leu1163=)
c.3357A>G (p.Leu1119=)
20g.32436222A>TCA408563214ASXL1c.3510A>T (p.Leu1170Phe)
c.3327A>T (p.Leu1109Phe)
n.5863A>T
c.1869+1641A>T (n.1869+1641A>T)
c.3495A>T (p.Leu1165Phe)
c.3507A>T (p.Leu1169Phe)
c.3480A>T (p.Leu1160Phe)
c.3426A>T (p.Leu1142Phe)
c.2826A>T (p.Leu942Phe)
c.3774A>T (p.Leu1258Phe)
c.3771A>T (p.Leu1257Phe)
c.3690A>T (p.Leu1230Phe)
c.3621A>T (p.Leu1207Phe)
c.3489A>T (p.Leu1163Phe)
c.3357A>T (p.Leu1119Phe)
 gnomAD v4
20g.32436223A>CCA510467297ASXL1c.3511A>C (p.Arg1171=)
c.3328A>C (p.Arg1110=)
n.5864A>C
c.1869+1642A>C (n.1869+1642A>C)
c.3496A>C (p.Arg1166=)
c.3508A>C (p.Arg1170=)
c.3481A>C (p.Arg1161=)
c.3427A>C (p.Arg1143=)
c.2827A>C (p.Arg943=)
c.3775A>C (p.Arg1259=)
c.3772A>C (p.Arg1258=)
c.3691A>C (p.Arg1231=)
c.3622A>C (p.Arg1208=)
c.3490A>C (p.Arg1164=)
c.3358A>C (p.Arg1120=)
20g.32436223A>GCA408563216ASXL1c.3511A>G (p.Arg1171Gly)
c.3328A>G (p.Arg1110Gly)
n.5864A>G
c.1869+1642A>G (n.1869+1642A>G)
c.3496A>G (p.Arg1166Gly)
c.3508A>G (p.Arg1170Gly)
c.3481A>G (p.Arg1161Gly)
c.3427A>G (p.Arg1143Gly)
c.2827A>G (p.Arg943Gly)
c.3775A>G (p.Arg1259Gly)
c.3772A>G (p.Arg1258Gly)
c.3691A>G (p.Arg1231Gly)
c.3622A>G (p.Arg1208Gly)
c.3490A>G (p.Arg1164Gly)
c.3358A>G (p.Arg1120Gly)
 gnomAD v4
20g.32436223A>TCA408563215ASXL1c.3511A>T (p.Arg1171Trp)
c.3328A>T (p.Arg1110Trp)
n.5864A>T
c.1869+1642A>T (n.1869+1642A>T)
c.3496A>T (p.Arg1166Trp)
c.3508A>T (p.Arg1170Trp)
c.3481A>T (p.Arg1161Trp)
c.3427A>T (p.Arg1143Trp)
c.2827A>T (p.Arg943Trp)
c.3775A>T (p.Arg1259Trp)
c.3772A>T (p.Arg1258Trp)
c.3691A>T (p.Arg1231Trp)
c.3622A>T (p.Arg1208Trp)
c.3490A>T (p.Arg1164Trp)
c.3358A>T (p.Arg1120Trp)
20g.32436223_32436224delinsAGCA2360293595ASXL1c.3511_3512delinsAG (p.Arg1171=)
c.3328_3329delinsAG (p.Arg1110=)
n.5864_5865delinsAG
c.1869+1642_1869+1643delinsAG (n.1869+1642_1869+1643delinsAG)
c.3496_3497delinsAG (p.Arg1166=)
c.3508_3509delinsAG (p.Arg1170=)
c.3481_3482delinsAG (p.Arg1161=)
c.3427_3428delinsAG (p.Arg1143=)
c.2827_2828delinsAG (p.Arg943=)
c.3775_3776delinsAG (p.Arg1259=)
c.3772_3773delinsAG (p.Arg1258=)
c.3691_3692delinsAG (p.Arg1231=)
c.3622_3623delinsAG (p.Arg1208=)
c.3490_3491delinsAG (p.Arg1164=)
c.3358_3359delinsAG (p.Arg1120=)
20g.32436224G>ACA408563217ASXL1c.3512G>A (p.Arg1171Lys)
c.3329G>A (p.Arg1110Lys)
n.5865G>A
c.1869+1643G>A (n.1869+1643G>A)
c.3497G>A (p.Arg1166Lys)
c.3509G>A (p.Arg1170Lys)
c.3482G>A (p.Arg1161Lys)
c.3428G>A (p.Arg1143Lys)
c.2828G>A (p.Arg943Lys)
c.3776G>A (p.Arg1259Lys)
c.3773G>A (p.Arg1258Lys)
c.3692G>A (p.Arg1231Lys)
c.3623G>A (p.Arg1208Lys)
c.3491G>A (p.Arg1164Lys)
c.3359G>A (p.Arg1120Lys)
20g.32436224G>CCA408563218ASXL1c.3512G>C (p.Arg1171Thr)
c.3329G>C (p.Arg1110Thr)
n.5865G>C
c.1869+1643G>C (n.1869+1643G>C)
c.3497G>C (p.Arg1166Thr)
c.3509G>C (p.Arg1170Thr)
c.3482G>C (p.Arg1161Thr)
c.3428G>C (p.Arg1143Thr)
c.2828G>C (p.Arg943Thr)
c.3776G>C (p.Arg1259Thr)
c.3773G>C (p.Arg1258Thr)
c.3692G>C (p.Arg1231Thr)
c.3623G>C (p.Arg1208Thr)
c.3491G>C (p.Arg1164Thr)
c.3359G>C (p.Arg1120Thr)
 gnomAD v2 gnomAD v4
20g.32436224G>TCA408563219ASXL1c.3512G>T (p.Arg1171Met)
c.3329G>T (p.Arg1110Met)
n.5865G>T
c.1869+1643G>T (n.1869+1643G>T)
c.3497G>T (p.Arg1166Met)
c.3509G>T (p.Arg1170Met)
c.3482G>T (p.Arg1161Met)
c.3428G>T (p.Arg1143Met)
c.2828G>T (p.Arg943Met)
c.3776G>T (p.Arg1259Met)
c.3773G>T (p.Arg1258Met)
c.3692G>T (p.Arg1231Met)
c.3623G>T (p.Arg1208Met)
c.3491G>T (p.Arg1164Met)
c.3359G>T (p.Arg1120Met)
20g.32436226delCA645612965ASXL1c.3514del (p.Ala1172LeufsTer2)
c.3331del (p.Ala1111LeufsTer2)
n.5867del
c.1869+1645del (n.1869+1645del)
c.3499del (p.Ala1167LeufsTer2)
c.3511del (p.Ala1171LeufsTer2)
c.3484del (p.Ala1162LeufsTer2)
c.3430del (p.Ala1144LeufsTer2)
c.2830del (p.Ala944LeufsTer2)
c.3778del (p.Ala1260LeufsTer2)
c.3775del (p.Ala1259LeufsTer2)
c.3694del (p.Ala1232LeufsTer2)
c.3625del (p.Ala1209LeufsTer2)
c.3493del (p.Ala1165LeufsTer2)
c.3361del (p.Ala1121LeufsTer2)
 dbSNP gnomAD v4 COSMIC COSMIC
20g.32436225G>ACA9808841ASXL1c.3513G>A (p.Arg1171=)
c.3330G>A (p.Arg1110=)
n.5866G>A
c.1869+1644G>A (n.1869+1644G>A)
c.3498G>A (p.Arg1166=)
c.3510G>A (p.Arg1170=)
c.3483G>A (p.Arg1161=)
c.3429G>A (p.Arg1143=)
c.2829G>A (p.Arg943=)
c.3777G>A (p.Arg1259=)
c.3774G>A (p.Arg1258=)
c.3693G>A (p.Arg1231=)
c.3624G>A (p.Arg1208=)
c.3492G>A (p.Arg1164=)
c.3360G>A (p.Arg1120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436225G>CCA408563220ASXL1c.3513G>C (p.Arg1171Ser)
c.3330G>C (p.Arg1110Ser)
n.5866G>C
c.1869+1644G>C (n.1869+1644G>C)
c.3498G>C (p.Arg1166Ser)
c.3510G>C (p.Arg1170Ser)
c.3483G>C (p.Arg1161Ser)
c.3429G>C (p.Arg1143Ser)
c.2829G>C (p.Arg943Ser)
c.3777G>C (p.Arg1259Ser)
c.3774G>C (p.Arg1258Ser)
c.3693G>C (p.Arg1231Ser)
c.3624G>C (p.Arg1208Ser)
c.3492G>C (p.Arg1164Ser)
c.3360G>C (p.Arg1120Ser)
 dbSNP gnomAD v4
20g.32436225G=CA2360293596ASXL1c.3513G= (p.Arg1171=)
c.3330G= (p.Arg1110=)
n.5866G=
c.1869+1644G= (n.1869+1644G=)
c.3498G= (p.Arg1166=)
c.3510G= (p.Arg1170=)
c.3483G= (p.Arg1161=)
c.3429G= (p.Arg1143=)
c.2829G= (p.Arg943=)
c.3777G= (p.Arg1259=)
c.3774G= (p.Arg1258=)
c.3693G= (p.Arg1231=)
c.3624G= (p.Arg1208=)
c.3492G= (p.Arg1164=)
c.3360G= (p.Arg1120=)
20g.32436225G>TCA408563221ASXL1c.3513G>T (p.Arg1171Ser)
c.3330G>T (p.Arg1110Ser)
n.5866G>T
c.1869+1644G>T (n.1869+1644G>T)
c.3498G>T (p.Arg1166Ser)
c.3510G>T (p.Arg1170Ser)
c.3483G>T (p.Arg1161Ser)
c.3429G>T (p.Arg1143Ser)
c.2829G>T (p.Arg943Ser)
c.3777G>T (p.Arg1259Ser)
c.3774G>T (p.Arg1258Ser)
c.3693G>T (p.Arg1231Ser)
c.3624G>T (p.Arg1208Ser)
c.3492G>T (p.Arg1164Ser)
c.3360G>T (p.Arg1120Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32436226G>ACA9808842ASXL1c.3514G>A (p.Ala1172Thr)
c.3331G>A (p.Ala1111Thr)
n.5867G>A
c.1869+1645G>A (n.1869+1645G>A)
c.3499G>A (p.Ala1167Thr)
c.3511G>A (p.Ala1171Thr)
c.3484G>A (p.Ala1162Thr)
c.3430G>A (p.Ala1144Thr)
c.2830G>A (p.Ala944Thr)
c.3778G>A (p.Ala1260Thr)
c.3775G>A (p.Ala1259Thr)
c.3694G>A (p.Ala1232Thr)
c.3625G>A (p.Ala1209Thr)
c.3493G>A (p.Ala1165Thr)
c.3361G>A (p.Ala1121Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436226G>CCA408563222ASXL1c.3514G>C (p.Ala1172Pro)
c.3331G>C (p.Ala1111Pro)
n.5867G>C
c.1869+1645G>C (n.1869+1645G>C)
c.3499G>C (p.Ala1167Pro)
c.3511G>C (p.Ala1171Pro)
c.3484G>C (p.Ala1162Pro)
c.3430G>C (p.Ala1144Pro)
c.2830G>C (p.Ala944Pro)
c.3778G>C (p.Ala1260Pro)
c.3775G>C (p.Ala1259Pro)
c.3694G>C (p.Ala1232Pro)
c.3625G>C (p.Ala1209Pro)
c.3493G>C (p.Ala1165Pro)
c.3361G>C (p.Ala1121Pro)
20g.32436226G=CA2360293597ASXL1c.3514G= (p.Ala1172=)
c.3331G= (p.Ala1111=)
n.5867G=
c.1869+1645G= (n.1869+1645G=)
c.3499G= (p.Ala1167=)
c.3511G= (p.Ala1171=)
c.3484G= (p.Ala1162=)
c.3430G= (p.Ala1144=)
c.2830G= (p.Ala944=)
c.3778G= (p.Ala1260=)
c.3775G= (p.Ala1259=)
c.3694G= (p.Ala1232=)
c.3625G= (p.Ala1209=)
c.3493G= (p.Ala1165=)
c.3361G= (p.Ala1121=)
20g.32436226G>TCA408563223ASXL1c.3514G>T (p.Ala1172Ser)
c.3331G>T (p.Ala1111Ser)
n.5867G>T
c.1869+1645G>T (n.1869+1645G>T)
c.3499G>T (p.Ala1167Ser)
c.3511G>T (p.Ala1171Ser)
c.3484G>T (p.Ala1162Ser)
c.3430G>T (p.Ala1144Ser)
c.2830G>T (p.Ala944Ser)
c.3778G>T (p.Ala1260Ser)
c.3775G>T (p.Ala1259Ser)
c.3694G>T (p.Ala1232Ser)
c.3625G>T (p.Ala1209Ser)
c.3493G>T (p.Ala1165Ser)
c.3361G>T (p.Ala1121Ser)
20g.32436227C>ACA408563224ASXL1c.3515C>A (p.Ala1172Asp)
c.3332C>A (p.Ala1111Asp)
n.5868C>A
c.1869+1646C>A (n.1869+1646C>A)
c.3500C>A (p.Ala1167Asp)
c.3512C>A (p.Ala1171Asp)
c.3485C>A (p.Ala1162Asp)
c.3431C>A (p.Ala1144Asp)
c.2831C>A (p.Ala944Asp)
c.3779C>A (p.Ala1260Asp)
c.3776C>A (p.Ala1259Asp)
c.3695C>A (p.Ala1232Asp)
c.3626C>A (p.Ala1209Asp)
c.3494C>A (p.Ala1165Asp)
c.3362C>A (p.Ala1121Asp)
20g.32436227C=CA2360293598ASXL1c.3515C= (p.Ala1172=)
c.3332C= (p.Ala1111=)
n.5868C=
c.1869+1646C= (n.1869+1646C=)
c.3500C= (p.Ala1167=)
c.3512C= (p.Ala1171=)
c.3485C= (p.Ala1162=)
c.3431C= (p.Ala1144=)
c.2831C= (p.Ala944=)
c.3779C= (p.Ala1260=)
c.3776C= (p.Ala1259=)
c.3695C= (p.Ala1232=)
c.3626C= (p.Ala1209=)
c.3494C= (p.Ala1165=)
c.3362C= (p.Ala1121=)
20g.32436227C>GCA408563225ASXL1c.3515C>G (p.Ala1172Gly)
c.3332C>G (p.Ala1111Gly)
n.5868C>G
c.1869+1646C>G (n.1869+1646C>G)
c.3500C>G (p.Ala1167Gly)
c.3512C>G (p.Ala1171Gly)
c.3485C>G (p.Ala1162Gly)
c.3431C>G (p.Ala1144Gly)
c.2831C>G (p.Ala944Gly)
c.3779C>G (p.Ala1260Gly)
c.3776C>G (p.Ala1259Gly)
c.3695C>G (p.Ala1232Gly)
c.3626C>G (p.Ala1209Gly)
c.3494C>G (p.Ala1165Gly)
c.3362C>G (p.Ala1121Gly)
20g.32436227C>TCA408563226ASXL1c.3515C>T (p.Ala1172Val)
c.3332C>T (p.Ala1111Val)
n.5868C>T
c.1869+1646C>T (n.1869+1646C>T)
c.3500C>T (p.Ala1167Val)
c.3512C>T (p.Ala1171Val)
c.3485C>T (p.Ala1162Val)
c.3431C>T (p.Ala1144Val)
c.2831C>T (p.Ala944Val)
c.3779C>T (p.Ala1260Val)
c.3776C>T (p.Ala1259Val)
c.3695C>T (p.Ala1232Val)
c.3626C>T (p.Ala1209Val)
c.3494C>T (p.Ala1165Val)
c.3362C>T (p.Ala1121Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32436228T>ACA510467303ASXL1c.3516T>A (p.Ala1172=)
c.3333T>A (p.Ala1111=)
n.5869T>A
c.1869+1647T>A (n.1869+1647T>A)
c.3501T>A (p.Ala1167=)
c.3513T>A (p.Ala1171=)
c.3486T>A (p.Ala1162=)
c.3432T>A (p.Ala1144=)
c.2832T>A (p.Ala944=)
c.3780T>A (p.Ala1260=)
c.3777T>A (p.Ala1259=)
c.3696T>A (p.Ala1232=)
c.3627T>A (p.Ala1209=)
c.3495T>A (p.Ala1165=)
c.3363T>A (p.Ala1121=)
20g.32436228T>CCA510467305ASXL1c.3516T>C (p.Ala1172=)
c.3333T>C (p.Ala1111=)
n.5869T>C
c.1869+1647T>C (n.1869+1647T>C)
c.3501T>C (p.Ala1167=)
c.3513T>C (p.Ala1171=)
c.3486T>C (p.Ala1162=)
c.3432T>C (p.Ala1144=)
c.2832T>C (p.Ala944=)
c.3780T>C (p.Ala1260=)
c.3777T>C (p.Ala1259=)
c.3696T>C (p.Ala1232=)
c.3627T>C (p.Ala1209=)
c.3495T>C (p.Ala1165=)
c.3363T>C (p.Ala1121=)
20g.32436228T>GCA313926346ASXL1c.3516T>G (p.Ala1172=)
c.3333T>G (p.Ala1111=)
n.5869T>G
c.1869+1647T>G (n.1869+1647T>G)
c.3501T>G (p.Ala1167=)
c.3513T>G (p.Ala1171=)
c.3486T>G (p.Ala1162=)
c.3432T>G (p.Ala1144=)
c.2832T>G (p.Ala944=)
c.3780T>G (p.Ala1260=)
c.3777T>G (p.Ala1259=)
c.3696T>G (p.Ala1232=)
c.3627T>G (p.Ala1209=)
c.3495T>G (p.Ala1165=)
c.3363T>G (p.Ala1121=)
 ClinVar dbSNP gnomAD v4
20g.32436228T=CA2360293599ASXL1c.3516T= (p.Ala1172=)
c.3333T= (p.Ala1111=)
n.5869T=
c.1869+1647T= (n.1869+1647T=)
c.3501T= (p.Ala1167=)
c.3513T= (p.Ala1171=)
c.3486T= (p.Ala1162=)
c.3432T= (p.Ala1144=)
c.2832T= (p.Ala944=)
c.3780T= (p.Ala1260=)
c.3777T= (p.Ala1259=)
c.3696T= (p.Ala1232=)
c.3627T= (p.Ala1209=)
c.3495T= (p.Ala1165=)
c.3363T= (p.Ala1121=)
20g.32436229T>ACA408563228ASXL1c.3517T>A (p.Leu1173Met)
c.3334T>A (p.Leu1112Met)
n.5870T>A
c.1869+1648T>A (n.1869+1648T>A)
c.3502T>A (p.Leu1168Met)
c.3514T>A (p.Leu1172Met)
c.3487T>A (p.Leu1163Met)
c.3433T>A (p.Leu1145Met)
c.2833T>A (p.Leu945Met)
c.3781T>A (p.Leu1261Met)
c.3778T>A (p.Leu1260Met)
c.3697T>A (p.Leu1233Met)
c.3628T>A (p.Leu1210Met)
c.3496T>A (p.Leu1166Met)
c.3364T>A (p.Leu1122Met)
 gnomAD v4
20g.32436229T>CCA510467306ASXL1c.3517T>C (p.Leu1173=)
c.3334T>C (p.Leu1112=)
n.5870T>C
c.1869+1648T>C (n.1869+1648T>C)
c.3502T>C (p.Leu1168=)
c.3514T>C (p.Leu1172=)
c.3487T>C (p.Leu1163=)
c.3433T>C (p.Leu1145=)
c.2833T>C (p.Leu945=)
c.3781T>C (p.Leu1261=)
c.3778T>C (p.Leu1260=)
c.3697T>C (p.Leu1233=)
c.3628T>C (p.Leu1210=)
c.3496T>C (p.Leu1166=)
c.3364T>C (p.Leu1122=)
20g.32436229T>GCA408563227ASXL1c.3517T>G (p.Leu1173Val)
c.3334T>G (p.Leu1112Val)
n.5870T>G
c.1869+1648T>G (n.1869+1648T>G)
c.3502T>G (p.Leu1168Val)
c.3514T>G (p.Leu1172Val)
c.3487T>G (p.Leu1163Val)
c.3433T>G (p.Leu1145Val)
c.2833T>G (p.Leu945Val)
c.3781T>G (p.Leu1261Val)
c.3778T>G (p.Leu1260Val)
c.3697T>G (p.Leu1233Val)
c.3628T>G (p.Leu1210Val)
c.3496T>G (p.Leu1166Val)
c.3364T>G (p.Leu1122Val)
20g.32436230T>ACA408563229ASXL1c.3518T>A (p.Leu1173Ter)
c.3335T>A (p.Leu1112Ter)
n.5871T>A
c.1869+1649T>A (n.1869+1649T>A)
c.3503T>A (p.Leu1168Ter)
c.3515T>A (p.Leu1172Ter)
c.3488T>A (p.Leu1163Ter)
c.3434T>A (p.Leu1145Ter)
c.2834T>A (p.Leu945Ter)
c.3782T>A (p.Leu1261Ter)
c.3779T>A (p.Leu1260Ter)
c.3698T>A (p.Leu1233Ter)
c.3629T>A (p.Leu1210Ter)
c.3497T>A (p.Leu1166Ter)
c.3365T>A (p.Leu1122Ter)
20g.32436230T>CCA9808843ASXL1c.3518T>C (p.Leu1173Ser)
c.3335T>C (p.Leu1112Ser)
n.5871T>C
c.1869+1649T>C (n.1869+1649T>C)
c.3503T>C (p.Leu1168Ser)
c.3515T>C (p.Leu1172Ser)
c.3488T>C (p.Leu1163Ser)
c.3434T>C (p.Leu1145Ser)
c.2834T>C (p.Leu945Ser)
c.3782T>C (p.Leu1261Ser)
c.3779T>C (p.Leu1260Ser)
c.3698T>C (p.Leu1233Ser)
c.3629T>C (p.Leu1210Ser)
c.3497T>C (p.Leu1166Ser)
c.3365T>C (p.Leu1122Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436230T>GCA408563230ASXL1c.3518T>G (p.Leu1173Trp)
c.3335T>G (p.Leu1112Trp)
n.5871T>G
c.1869+1649T>G (n.1869+1649T>G)
c.3503T>G (p.Leu1168Trp)
c.3515T>G (p.Leu1172Trp)
c.3488T>G (p.Leu1163Trp)
c.3434T>G (p.Leu1145Trp)
c.2834T>G (p.Leu945Trp)
c.3782T>G (p.Leu1261Trp)
c.3779T>G (p.Leu1260Trp)
c.3698T>G (p.Leu1233Trp)
c.3629T>G (p.Leu1210Trp)
c.3497T>G (p.Leu1166Trp)
c.3365T>G (p.Leu1122Trp)
20g.32436230T=CA2360293600ASXL1c.3518T= (p.Leu1173=)
c.3335T= (p.Leu1112=)
n.5871T=
c.1869+1649T= (n.1869+1649T=)
c.3503T= (p.Leu1168=)
c.3515T= (p.Leu1172=)
c.3488T= (p.Leu1163=)
c.3434T= (p.Leu1145=)
c.2834T= (p.Leu945=)
c.3782T= (p.Leu1261=)
c.3779T= (p.Leu1260=)
c.3698T= (p.Leu1233=)
c.3629T= (p.Leu1210=)
c.3497T= (p.Leu1166=)
c.3365T= (p.Leu1122=)
20g.32436231G>ACA9808844ASXL1c.3519G>A (p.Leu1173=)
c.3336G>A (p.Leu1112=)
n.5872G>A
c.1869+1650G>A (n.1869+1650G>A)
c.3504G>A (p.Leu1168=)
c.3516G>A (p.Leu1172=)
c.3489G>A (p.Leu1163=)
c.3435G>A (p.Leu1145=)
c.2835G>A (p.Leu945=)
c.3783G>A (p.Leu1261=)
c.3780G>A (p.Leu1260=)
c.3699G>A (p.Leu1233=)
c.3630G>A (p.Leu1210=)
c.3498G>A (p.Leu1166=)
c.3366G>A (p.Leu1122=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436231G>CCA408563231ASXL1c.3519G>C (p.Leu1173Phe)
c.3336G>C (p.Leu1112Phe)
n.5872G>C
c.1869+1650G>C (n.1869+1650G>C)
c.3504G>C (p.Leu1168Phe)
c.3516G>C (p.Leu1172Phe)
c.3489G>C (p.Leu1163Phe)
c.3435G>C (p.Leu1145Phe)
c.2835G>C (p.Leu945Phe)
c.3783G>C (p.Leu1261Phe)
c.3780G>C (p.Leu1260Phe)
c.3699G>C (p.Leu1233Phe)
c.3630G>C (p.Leu1210Phe)
c.3498G>C (p.Leu1166Phe)
c.3366G>C (p.Leu1122Phe)
 COSMIC
20g.32436231G=CA2360293601ASXL1c.3519G= (p.Leu1173=)
c.3336G= (p.Leu1112=)
n.5872G=
c.1869+1650G= (n.1869+1650G=)
c.3504G= (p.Leu1168=)
c.3516G= (p.Leu1172=)
c.3489G= (p.Leu1163=)
c.3435G= (p.Leu1145=)
c.2835G= (p.Leu945=)
c.3783G= (p.Leu1261=)
c.3780G= (p.Leu1260=)
c.3699G= (p.Leu1233=)
c.3630G= (p.Leu1210=)
c.3498G= (p.Leu1166=)
c.3366G= (p.Leu1122=)
20g.32436231G>TCA408563232ASXL1c.3519G>T (p.Leu1173Phe)
c.3336G>T (p.Leu1112Phe)
n.5872G>T
c.1869+1650G>T (n.1869+1650G>T)
c.3504G>T (p.Leu1168Phe)
c.3516G>T (p.Leu1172Phe)
c.3489G>T (p.Leu1163Phe)
c.3435G>T (p.Leu1145Phe)
c.2835G>T (p.Leu945Phe)
c.3783G>T (p.Leu1261Phe)
c.3780G>T (p.Leu1260Phe)
c.3699G>T (p.Leu1233Phe)
c.3630G>T (p.Leu1210Phe)
c.3498G>T (p.Leu1166Phe)
c.3366G>T (p.Leu1122Phe)
20g.32436232A>CCA408563233ASXL1c.3520A>C (p.Lys1174Gln)
c.3337A>C (p.Lys1113Gln)
n.5873A>C
c.1869+1651A>C (n.1869+1651A>C)
c.3505A>C (p.Lys1169Gln)
c.3517A>C (p.Lys1173Gln)
c.3490A>C (p.Lys1164Gln)
c.3436A>C (p.Lys1146Gln)
c.2836A>C (p.Lys946Gln)
c.3784A>C (p.Lys1262Gln)
c.3781A>C (p.Lys1261Gln)
c.3700A>C (p.Lys1234Gln)
c.3631A>C (p.Lys1211Gln)
c.3499A>C (p.Lys1167Gln)
c.3367A>C (p.Lys1123Gln)
20g.32436232A>GCA408563234ASXL1c.3520A>G (p.Lys1174Glu)
c.3337A>G (p.Lys1113Glu)
n.5873A>G
c.1869+1651A>G (n.1869+1651A>G)
c.3505A>G (p.Lys1169Glu)
c.3517A>G (p.Lys1173Glu)
c.3490A>G (p.Lys1164Glu)
c.3436A>G (p.Lys1146Glu)
c.2836A>G (p.Lys946Glu)
c.3784A>G (p.Lys1262Glu)
c.3781A>G (p.Lys1261Glu)
c.3700A>G (p.Lys1234Glu)
c.3631A>G (p.Lys1211Glu)
c.3499A>G (p.Lys1167Glu)
c.3367A>G (p.Lys1123Glu)
20g.32436232A>TCA408563235ASXL1c.3520A>T (p.Lys1174Ter)
c.3337A>T (p.Lys1113Ter)
n.5873A>T
c.1869+1651A>T (n.1869+1651A>T)
c.3505A>T (p.Lys1169Ter)
c.3517A>T (p.Lys1173Ter)
c.3490A>T (p.Lys1164Ter)
c.3436A>T (p.Lys1146Ter)
c.2836A>T (p.Lys946Ter)
c.3784A>T (p.Lys1262Ter)
c.3781A>T (p.Lys1261Ter)
c.3700A>T (p.Lys1234Ter)
c.3631A>T (p.Lys1211Ter)
c.3499A>T (p.Lys1167Ter)
c.3367A>T (p.Lys1123Ter)
20g.32436233A>CCA408563236ASXL1c.3521A>C (p.Lys1174Thr)
c.3338A>C (p.Lys1113Thr)
n.5874A>C
c.1869+1652A>C (n.1869+1652A>C)
c.3506A>C (p.Lys1169Thr)
c.3518A>C (p.Lys1173Thr)
c.3491A>C (p.Lys1164Thr)
c.3437A>C (p.Lys1146Thr)
c.2837A>C (p.Lys946Thr)
c.3785A>C (p.Lys1262Thr)
c.3782A>C (p.Lys1261Thr)
c.3701A>C (p.Lys1234Thr)
c.3632A>C (p.Lys1211Thr)
c.3500A>C (p.Lys1167Thr)
c.3368A>C (p.Lys1123Thr)
20g.32436233A>GCA408563237ASXL1c.3521A>G (p.Lys1174Arg)
c.3338A>G (p.Lys1113Arg)
n.5874A>G
c.1869+1652A>G (n.1869+1652A>G)
c.3506A>G (p.Lys1169Arg)
c.3518A>G (p.Lys1173Arg)
c.3491A>G (p.Lys1164Arg)
c.3437A>G (p.Lys1146Arg)
c.2837A>G (p.Lys946Arg)
c.3785A>G (p.Lys1262Arg)
c.3782A>G (p.Lys1261Arg)
c.3701A>G (p.Lys1234Arg)
c.3632A>G (p.Lys1211Arg)
c.3500A>G (p.Lys1167Arg)
c.3368A>G (p.Lys1123Arg)
20g.32436233A>TCA408563238ASXL1c.3521A>T (p.Lys1174Met)
c.3338A>T (p.Lys1113Met)
n.5874A>T
c.1869+1652A>T (n.1869+1652A>T)
c.3506A>T (p.Lys1169Met)
c.3518A>T (p.Lys1173Met)
c.3491A>T (p.Lys1164Met)
c.3437A>T (p.Lys1146Met)
c.2837A>T (p.Lys946Met)
c.3785A>T (p.Lys1262Met)
c.3782A>T (p.Lys1261Met)
c.3701A>T (p.Lys1234Met)
c.3632A>T (p.Lys1211Met)
c.3500A>T (p.Lys1167Met)
c.3368A>T (p.Lys1123Met)
20g.32436234G>ACA9808846ASXL1c.3522G>A (p.Lys1174=)
c.3339G>A (p.Lys1113=)
n.5875G>A
c.1869+1653G>A (n.1869+1653G>A)
c.3507G>A (p.Lys1169=)
c.3519G>A (p.Lys1173=)
c.3492G>A (p.Lys1164=)
c.3438G>A (p.Lys1146=)
c.2838G>A (p.Lys946=)
c.3786G>A (p.Lys1262=)
c.3783G>A (p.Lys1261=)
c.3702G>A (p.Lys1234=)
c.3633G>A (p.Lys1211=)
c.3501G>A (p.Lys1167=)
c.3369G>A (p.Lys1123=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436234G>CCA9808845ASXL1c.3522G>C (p.Lys1174Asn)
c.3339G>C (p.Lys1113Asn)
n.5875G>C
c.1869+1653G>C (n.1869+1653G>C)
c.3507G>C (p.Lys1169Asn)
c.3519G>C (p.Lys1173Asn)
c.3492G>C (p.Lys1164Asn)
c.3438G>C (p.Lys1146Asn)
c.2838G>C (p.Lys946Asn)
c.3786G>C (p.Lys1262Asn)
c.3783G>C (p.Lys1261Asn)
c.3702G>C (p.Lys1234Asn)
c.3633G>C (p.Lys1211Asn)
c.3501G>C (p.Lys1167Asn)
c.3369G>C (p.Lys1123Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436234G=CA2360293602ASXL1c.3522G= (p.Lys1174=)
c.3339G= (p.Lys1113=)
n.5875G=
c.1869+1653G= (n.1869+1653G=)
c.3507G= (p.Lys1169=)
c.3519G= (p.Lys1173=)
c.3492G= (p.Lys1164=)
c.3438G= (p.Lys1146=)
c.2838G= (p.Lys946=)
c.3786G= (p.Lys1262=)
c.3783G= (p.Lys1261=)
c.3702G= (p.Lys1234=)
c.3633G= (p.Lys1211=)
c.3501G= (p.Lys1167=)
c.3369G= (p.Lys1123=)
20g.32436234G>TCA408563240ASXL1c.3522G>T (p.Lys1174Asn)
c.3339G>T (p.Lys1113Asn)
n.5875G>T
c.1869+1653G>T (n.1869+1653G>T)
c.3507G>T (p.Lys1169Asn)
c.3519G>T (p.Lys1173Asn)
c.3492G>T (p.Lys1164Asn)
c.3438G>T (p.Lys1146Asn)
c.2838G>T (p.Lys946Asn)
c.3786G>T (p.Lys1262Asn)
c.3783G>T (p.Lys1261Asn)
c.3702G>T (p.Lys1234Asn)
c.3633G>T (p.Lys1211Asn)
c.3501G>T (p.Lys1167Asn)
c.3369G>T (p.Lys1123Asn)
20g.32436235G>ACA408563243ASXL1c.3523G>A (p.Glu1175Lys)
c.3340G>A (p.Glu1114Lys)
n.5876G>A
c.1869+1654G>A (n.1869+1654G>A)
c.3508G>A (p.Glu1170Lys)
c.3520G>A (p.Glu1174Lys)
c.3493G>A (p.Glu1165Lys)
c.3439G>A (p.Glu1147Lys)
c.2839G>A (p.Glu947Lys)
c.3787G>A (p.Glu1263Lys)
c.3784G>A (p.Glu1262Lys)
c.3703G>A (p.Glu1235Lys)
c.3634G>A (p.Glu1212Lys)
c.3502G>A (p.Glu1168Lys)
c.3370G>A (p.Glu1124Lys)
 dbSNP
20g.32436235G>CCA408563241ASXL1c.3523G>C (p.Glu1175Gln)
c.3340G>C (p.Glu1114Gln)
n.5876G>C
c.1869+1654G>C (n.1869+1654G>C)
c.3508G>C (p.Glu1170Gln)
c.3520G>C (p.Glu1174Gln)
c.3493G>C (p.Glu1165Gln)
c.3439G>C (p.Glu1147Gln)
c.2839G>C (p.Glu947Gln)
c.3787G>C (p.Glu1263Gln)
c.3784G>C (p.Glu1262Gln)
c.3703G>C (p.Glu1235Gln)
c.3634G>C (p.Glu1212Gln)
c.3502G>C (p.Glu1168Gln)
c.3370G>C (p.Glu1124Gln)
20g.32436235G=CA2360293603ASXL1c.3523G= (p.Glu1175=)
c.3340G= (p.Glu1114=)
n.5876G=
c.1869+1654G= (n.1869+1654G=)
c.3508G= (p.Glu1170=)
c.3520G= (p.Glu1174=)
c.3493G= (p.Glu1165=)
c.3439G= (p.Glu1147=)
c.2839G= (p.Glu947=)
c.3787G= (p.Glu1263=)
c.3784G= (p.Glu1262=)
c.3703G= (p.Glu1235=)
c.3634G= (p.Glu1212=)
c.3502G= (p.Glu1168=)
c.3370G= (p.Glu1124=)
20g.32436235G>TCA408563242ASXL1c.3523G>T (p.Glu1175Ter)
c.3340G>T (p.Glu1114Ter)
n.5876G>T
c.1869+1654G>T (n.1869+1654G>T)
c.3508G>T (p.Glu1170Ter)
c.3520G>T (p.Glu1174Ter)
c.3493G>T (p.Glu1165Ter)
c.3439G>T (p.Glu1147Ter)
c.2839G>T (p.Glu947Ter)
c.3787G>T (p.Glu1263Ter)
c.3784G>T (p.Glu1262Ter)
c.3703G>T (p.Glu1235Ter)
c.3634G>T (p.Glu1212Ter)
c.3502G>T (p.Glu1168Ter)
c.3370G>T (p.Glu1124Ter)
20g.32436236A>CCA408563244ASXL1c.3524A>C (p.Glu1175Ala)
c.3341A>C (p.Glu1114Ala)
n.5877A>C
c.1869+1655A>C (n.1869+1655A>C)
c.3509A>C (p.Glu1170Ala)
c.3521A>C (p.Glu1174Ala)
c.3494A>C (p.Glu1165Ala)
c.3440A>C (p.Glu1147Ala)
c.2840A>C (p.Glu947Ala)
c.3788A>C (p.Glu1263Ala)
c.3785A>C (p.Glu1262Ala)
c.3704A>C (p.Glu1235Ala)
c.3635A>C (p.Glu1212Ala)
c.3503A>C (p.Glu1168Ala)
c.3371A>C (p.Glu1124Ala)
20g.32436236A>GCA408563245ASXL1c.3524A>G (p.Glu1175Gly)
c.3341A>G (p.Glu1114Gly)
n.5877A>G
c.1869+1655A>G (n.1869+1655A>G)
c.3509A>G (p.Glu1170Gly)
c.3521A>G (p.Glu1174Gly)
c.3494A>G (p.Glu1165Gly)
c.3440A>G (p.Glu1147Gly)
c.2840A>G (p.Glu947Gly)
c.3788A>G (p.Glu1263Gly)
c.3785A>G (p.Glu1262Gly)
c.3704A>G (p.Glu1235Gly)
c.3635A>G (p.Glu1212Gly)
c.3503A>G (p.Glu1168Gly)
c.3371A>G (p.Glu1124Gly)
 dbSNP
20g.32436236A>TCA408563246ASXL1c.3524A>T (p.Glu1175Val)
c.3341A>T (p.Glu1114Val)
n.5877A>T
c.1869+1655A>T (n.1869+1655A>T)
c.3509A>T (p.Glu1170Val)
c.3521A>T (p.Glu1174Val)
c.3494A>T (p.Glu1165Val)
c.3440A>T (p.Glu1147Val)
c.2840A>T (p.Glu947Val)
c.3788A>T (p.Glu1263Val)
c.3785A>T (p.Glu1262Val)
c.3704A>T (p.Glu1235Val)
c.3635A>T (p.Glu1212Val)
c.3503A>T (p.Glu1168Val)
c.3371A>T (p.Glu1124Val)
20g.32436237G>ACA510467315ASXL1c.3525G>A (p.Glu1175=)
c.3342G>A (p.Glu1114=)
n.5878G>A
c.1869+1656G>A (n.1869+1656G>A)
c.3510G>A (p.Glu1170=)
c.3522G>A (p.Glu1174=)
c.3495G>A (p.Glu1165=)
c.3441G>A (p.Glu1147=)
c.2841G>A (p.Glu947=)
c.3789G>A (p.Glu1263=)
c.3786G>A (p.Glu1262=)
c.3705G>A (p.Glu1235=)
c.3636G>A (p.Glu1212=)
c.3504G>A (p.Glu1168=)
c.3372G>A (p.Glu1124=)
 dbSNP
20g.32436237G>CCA408563247ASXL1c.3525G>C (p.Glu1175Asp)
c.3342G>C (p.Glu1114Asp)
n.5878G>C
c.1869+1656G>C (n.1869+1656G>C)
c.3510G>C (p.Glu1170Asp)
c.3522G>C (p.Glu1174Asp)
c.3495G>C (p.Glu1165Asp)
c.3441G>C (p.Glu1147Asp)
c.2841G>C (p.Glu947Asp)
c.3789G>C (p.Glu1263Asp)
c.3786G>C (p.Glu1262Asp)
c.3705G>C (p.Glu1235Asp)
c.3636G>C (p.Glu1212Asp)
c.3504G>C (p.Glu1168Asp)
c.3372G>C (p.Glu1124Asp)
20g.32436237G=CA2360293604ASXL1c.3525G= (p.Glu1175=)
c.3342G= (p.Glu1114=)
n.5878G=
c.1869+1656G= (n.1869+1656G=)
c.3510G= (p.Glu1170=)
c.3522G= (p.Glu1174=)
c.3495G= (p.Glu1165=)
c.3441G= (p.Glu1147=)
c.2841G= (p.Glu947=)
c.3789G= (p.Glu1263=)
c.3786G= (p.Glu1262=)
c.3705G= (p.Glu1235=)
c.3636G= (p.Glu1212=)
c.3504G= (p.Glu1168=)
c.3372G= (p.Glu1124=)
20g.32436237G>TCA408563248ASXL1c.3525G>T (p.Glu1175Asp)
c.3342G>T (p.Glu1114Asp)
n.5878G>T
c.1869+1656G>T (n.1869+1656G>T)
c.3510G>T (p.Glu1170Asp)
c.3522G>T (p.Glu1174Asp)
c.3495G>T (p.Glu1165Asp)
c.3441G>T (p.Glu1147Asp)
c.2841G>T (p.Glu947Asp)
c.3789G>T (p.Glu1263Asp)
c.3786G>T (p.Glu1262Asp)
c.3705G>T (p.Glu1235Asp)
c.3636G>T (p.Glu1212Asp)
c.3504G>T (p.Glu1168Asp)
c.3372G>T (p.Glu1124Asp)
 dbSNP
20g.32436238C>ACA408563249ASXL1c.3526C>A (p.Pro1176Thr)
c.3343C>A (p.Pro1115Thr)
n.5879C>A
c.1869+1657C>A (n.1869+1657C>A)
c.3511C>A (p.Pro1171Thr)
c.3523C>A (p.Pro1175Thr)
c.3496C>A (p.Pro1166Thr)
c.3442C>A (p.Pro1148Thr)
c.2842C>A (p.Pro948Thr)
c.3790C>A (p.Pro1264Thr)
c.3787C>A (p.Pro1263Thr)
c.3706C>A (p.Pro1236Thr)
c.3637C>A (p.Pro1213Thr)
c.3505C>A (p.Pro1169Thr)
c.3373C>A (p.Pro1125Thr)
 dbSNP
20g.32436238C=CA2360293605ASXL1c.3526C= (p.Pro1176=)
c.3343C= (p.Pro1115=)
n.5879C=
c.1869+1657C= (n.1869+1657C=)
c.3511C= (p.Pro1171=)
c.3523C= (p.Pro1175=)
c.3496C= (p.Pro1166=)
c.3442C= (p.Pro1148=)
c.2842C= (p.Pro948=)
c.3790C= (p.Pro1264=)
c.3787C= (p.Pro1263=)
c.3706C= (p.Pro1236=)
c.3637C= (p.Pro1213=)
c.3505C= (p.Pro1169=)
c.3373C= (p.Pro1125=)
20g.32436238C>GCA408563250ASXL1c.3526C>G (p.Pro1176Ala)
c.3343C>G (p.Pro1115Ala)
n.5879C>G
c.1869+1657C>G (n.1869+1657C>G)
c.3511C>G (p.Pro1171Ala)
c.3523C>G (p.Pro1175Ala)
c.3496C>G (p.Pro1166Ala)
c.3442C>G (p.Pro1148Ala)
c.2842C>G (p.Pro948Ala)
c.3790C>G (p.Pro1264Ala)
c.3787C>G (p.Pro1263Ala)
c.3706C>G (p.Pro1236Ala)
c.3637C>G (p.Pro1213Ala)
c.3505C>G (p.Pro1169Ala)
c.3373C>G (p.Pro1125Ala)
20g.32436238C>TCA408563251ASXL1c.3526C>T (p.Pro1176Ser)
c.3343C>T (p.Pro1115Ser)
n.5879C>T
c.1869+1657C>T (n.1869+1657C>T)
c.3511C>T (p.Pro1171Ser)
c.3523C>T (p.Pro1175Ser)
c.3496C>T (p.Pro1166Ser)
c.3442C>T (p.Pro1148Ser)
c.2842C>T (p.Pro948Ser)
c.3790C>T (p.Pro1264Ser)
c.3787C>T (p.Pro1263Ser)
c.3706C>T (p.Pro1236Ser)
c.3637C>T (p.Pro1213Ser)
c.3505C>T (p.Pro1169Ser)
c.3373C>T (p.Pro1125Ser)
 dbSNP
20g.32436239C>ACA408563252ASXL1c.3527C>A (p.Pro1176His)
c.3344C>A (p.Pro1115His)
n.5880C>A
c.1869+1658C>A (n.1869+1658C>A)
c.3512C>A (p.Pro1171His)
c.3524C>A (p.Pro1175His)
c.3497C>A (p.Pro1166His)
c.3443C>A (p.Pro1148His)
c.2843C>A (p.Pro948His)
c.3791C>A (p.Pro1264His)
c.3788C>A (p.Pro1263His)
c.3707C>A (p.Pro1236His)
c.3638C>A (p.Pro1213His)
c.3506C>A (p.Pro1169His)
c.3374C>A (p.Pro1125His)
20g.32436239C>GCA408563253ASXL1c.3527C>G (p.Pro1176Arg)
c.3344C>G (p.Pro1115Arg)
n.5880C>G
c.1869+1658C>G (n.1869+1658C>G)
c.3512C>G (p.Pro1171Arg)
c.3524C>G (p.Pro1175Arg)
c.3497C>G (p.Pro1166Arg)
c.3443C>G (p.Pro1148Arg)
c.2843C>G (p.Pro948Arg)
c.3791C>G (p.Pro1264Arg)
c.3788C>G (p.Pro1263Arg)
c.3707C>G (p.Pro1236Arg)
c.3638C>G (p.Pro1213Arg)
c.3506C>G (p.Pro1169Arg)
c.3374C>G (p.Pro1125Arg)
20g.32436239C>TCA408563254ASXL1c.3527C>T (p.Pro1176Leu)
c.3344C>T (p.Pro1115Leu)
n.5880C>T
c.1869+1658C>T (n.1869+1658C>T)
c.3512C>T (p.Pro1171Leu)
c.3524C>T (p.Pro1175Leu)
c.3497C>T (p.Pro1166Leu)
c.3443C>T (p.Pro1148Leu)
c.2843C>T (p.Pro948Leu)
c.3791C>T (p.Pro1264Leu)
c.3788C>T (p.Pro1263Leu)
c.3707C>T (p.Pro1236Leu)
c.3638C>T (p.Pro1213Leu)
c.3506C>T (p.Pro1169Leu)
c.3374C>T (p.Pro1125Leu)
 gnomAD v4
20g.32436240T>ACA510467320ASXL1c.3528T>A (p.Pro1176=)
c.3345T>A (p.Pro1115=)
n.5881T>A
c.1869+1659T>A (n.1869+1659T>A)
c.3513T>A (p.Pro1171=)
c.3525T>A (p.Pro1175=)
c.3498T>A (p.Pro1166=)
c.3444T>A (p.Pro1148=)
c.2844T>A (p.Pro948=)
c.3792T>A (p.Pro1264=)
c.3789T>A (p.Pro1263=)
c.3708T>A (p.Pro1236=)
c.3639T>A (p.Pro1213=)
c.3507T>A (p.Pro1169=)
c.3375T>A (p.Pro1125=)
20g.32436240T>CCA510467322ASXL1c.3528T>C (p.Pro1176=)
c.3345T>C (p.Pro1115=)
n.5881T>C
c.1869+1659T>C (n.1869+1659T>C)
c.3513T>C (p.Pro1171=)
c.3525T>C (p.Pro1175=)
c.3498T>C (p.Pro1166=)
c.3444T>C (p.Pro1148=)
c.2844T>C (p.Pro948=)
c.3792T>C (p.Pro1264=)
c.3789T>C (p.Pro1263=)
c.3708T>C (p.Pro1236=)
c.3639T>C (p.Pro1213=)
c.3507T>C (p.Pro1169=)
c.3375T>C (p.Pro1125=)
 gnomAD v4
20g.32436240T>GCA510467323ASXL1c.3528T>G (p.Pro1176=)
c.3345T>G (p.Pro1115=)
n.5881T>G
c.1869+1659T>G (n.1869+1659T>G)
c.3513T>G (p.Pro1171=)
c.3525T>G (p.Pro1175=)
c.3498T>G (p.Pro1166=)
c.3444T>G (p.Pro1148=)
c.2844T>G (p.Pro948=)
c.3792T>G (p.Pro1264=)
c.3789T>G (p.Pro1263=)
c.3708T>G (p.Pro1236=)
c.3639T>G (p.Pro1213=)
c.3507T>G (p.Pro1169=)
c.3375T>G (p.Pro1125=)
20g.32436241C>ACA408563257ASXL1c.3529C>A (p.Leu1177Ile)
c.3346C>A (p.Leu1116Ile)
n.5882C>A
c.1869+1660C>A (n.1869+1660C>A)
c.3514C>A (p.Leu1172Ile)
c.3526C>A (p.Leu1176Ile)
c.3499C>A (p.Leu1167Ile)
c.3445C>A (p.Leu1149Ile)
c.2845C>A (p.Leu949Ile)
c.3793C>A (p.Leu1265Ile)
c.3790C>A (p.Leu1264Ile)
c.3709C>A (p.Leu1237Ile)
c.3640C>A (p.Leu1214Ile)
c.3508C>A (p.Leu1170Ile)
c.3376C>A (p.Leu1126Ile)
20g.32436241C>GCA408563256ASXL1c.3529C>G (p.Leu1177Val)
c.3346C>G (p.Leu1116Val)
n.5882C>G
c.1869+1660C>G (n.1869+1660C>G)
c.3514C>G (p.Leu1172Val)
c.3526C>G (p.Leu1176Val)
c.3499C>G (p.Leu1167Val)
c.3445C>G (p.Leu1149Val)
c.2845C>G (p.Leu949Val)
c.3793C>G (p.Leu1265Val)
c.3790C>G (p.Leu1264Val)
c.3709C>G (p.Leu1237Val)
c.3640C>G (p.Leu1214Val)
c.3508C>G (p.Leu1170Val)
c.3376C>G (p.Leu1126Val)
20g.32436241C>TCA408563255ASXL1c.3529C>T (p.Leu1177Phe)
c.3346C>T (p.Leu1116Phe)
n.5882C>T
c.1869+1660C>T (n.1869+1660C>T)
c.3514C>T (p.Leu1172Phe)
c.3526C>T (p.Leu1176Phe)
c.3499C>T (p.Leu1167Phe)
c.3445C>T (p.Leu1149Phe)
c.2845C>T (p.Leu949Phe)
c.3793C>T (p.Leu1265Phe)
c.3790C>T (p.Leu1264Phe)
c.3709C>T (p.Leu1237Phe)
c.3640C>T (p.Leu1214Phe)
c.3508C>T (p.Leu1170Phe)
c.3376C>T (p.Leu1126Phe)
 gnomAD v4
20g.32436242T>ACA408563258ASXL1c.3530T>A (p.Leu1177His)
c.3347T>A (p.Leu1116His)
n.5883T>A
c.1869+1661T>A (n.1869+1661T>A)
c.3515T>A (p.Leu1172His)
c.3527T>A (p.Leu1176His)
c.3500T>A (p.Leu1167His)
c.3446T>A (p.Leu1149His)
c.2846T>A (p.Leu949His)
c.3794T>A (p.Leu1265His)
c.3791T>A (p.Leu1264His)
c.3710T>A (p.Leu1237His)
c.3641T>A (p.Leu1214His)
c.3509T>A (p.Leu1170His)
c.3377T>A (p.Leu1126His)
20g.32436242T>CCA408563259ASXL1c.3530T>C (p.Leu1177Pro)
c.3347T>C (p.Leu1116Pro)
n.5883T>C
c.1869+1661T>C (n.1869+1661T>C)
c.3515T>C (p.Leu1172Pro)
c.3527T>C (p.Leu1176Pro)
c.3500T>C (p.Leu1167Pro)
c.3446T>C (p.Leu1149Pro)
c.2846T>C (p.Leu949Pro)
c.3794T>C (p.Leu1265Pro)
c.3791T>C (p.Leu1264Pro)
c.3710T>C (p.Leu1237Pro)
c.3641T>C (p.Leu1214Pro)
c.3509T>C (p.Leu1170Pro)
c.3377T>C (p.Leu1126Pro)
20g.32436242T>GCA408563260ASXL1c.3530T>G (p.Leu1177Arg)
c.3347T>G (p.Leu1116Arg)
n.5883T>G
c.1869+1661T>G (n.1869+1661T>G)
c.3515T>G (p.Leu1172Arg)
c.3527T>G (p.Leu1176Arg)
c.3500T>G (p.Leu1167Arg)
c.3446T>G (p.Leu1149Arg)
c.2846T>G (p.Leu949Arg)
c.3794T>G (p.Leu1265Arg)
c.3791T>G (p.Leu1264Arg)
c.3710T>G (p.Leu1237Arg)
c.3641T>G (p.Leu1214Arg)
c.3509T>G (p.Leu1170Arg)
c.3377T>G (p.Leu1126Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.32436242T=CA2360293606ASXL1c.3530T= (p.Leu1177=)
c.3347T= (p.Leu1116=)
n.5883T=
c.1869+1661T= (n.1869+1661T=)
c.3515T= (p.Leu1172=)
c.3527T= (p.Leu1176=)
c.3500T= (p.Leu1167=)
c.3446T= (p.Leu1149=)
c.2846T= (p.Leu949=)
c.3794T= (p.Leu1265=)
c.3791T= (p.Leu1264=)
c.3710T= (p.Leu1237=)
c.3641T= (p.Leu1214=)
c.3509T= (p.Leu1170=)
c.3377T= (p.Leu1126=)
20g.32436243T>ACA510467324ASXL1c.3531T>A (p.Leu1177=)
c.3348T>A (p.Leu1116=)
n.5884T>A
c.1869+1662T>A (n.1869+1662T>A)
c.3516T>A (p.Leu1172=)
c.3528T>A (p.Leu1176=)
c.3501T>A (p.Leu1167=)
c.3447T>A (p.Leu1149=)
c.2847T>A (p.Leu949=)
c.3795T>A (p.Leu1265=)
c.3792T>A (p.Leu1264=)
c.3711T>A (p.Leu1237=)
c.3642T>A (p.Leu1214=)
c.3510T>A (p.Leu1170=)
c.3378T>A (p.Leu1126=)
20g.32436243T>CCA313926347ASXL1c.3531T>C (p.Leu1177=)
c.3348T>C (p.Leu1116=)
n.5884T>C
c.1869+1662T>C (n.1869+1662T>C)
c.3516T>C (p.Leu1172=)
c.3528T>C (p.Leu1176=)
c.3501T>C (p.Leu1167=)
c.3447T>C (p.Leu1149=)
c.2847T>C (p.Leu949=)
c.3795T>C (p.Leu1265=)
c.3792T>C (p.Leu1264=)
c.3711T>C (p.Leu1237=)
c.3642T>C (p.Leu1214=)
c.3510T>C (p.Leu1170=)
c.3378T>C (p.Leu1126=)
 dbSNP gnomAD v4
20g.32436243T>GCA510467326ASXL1c.3531T>G (p.Leu1177=)
c.3348T>G (p.Leu1116=)
n.5884T>G
c.1869+1662T>G (n.1869+1662T>G)
c.3516T>G (p.Leu1172=)
c.3528T>G (p.Leu1176=)
c.3501T>G (p.Leu1167=)
c.3447T>G (p.Leu1149=)
c.2847T>G (p.Leu949=)
c.3795T>G (p.Leu1265=)
c.3792T>G (p.Leu1264=)
c.3711T>G (p.Leu1237=)
c.3642T>G (p.Leu1214=)
c.3510T>G (p.Leu1170=)
c.3378T>G (p.Leu1126=)
20g.32436243T=CA2360293607ASXL1c.3531T= (p.Leu1177=)
c.3348T= (p.Leu1116=)
n.5884T=
c.1869+1662T= (n.1869+1662T=)
c.3516T= (p.Leu1172=)
c.3528T= (p.Leu1176=)
c.3501T= (p.Leu1167=)
c.3447T= (p.Leu1149=)
c.2847T= (p.Leu949=)
c.3795T= (p.Leu1265=)
c.3792T= (p.Leu1264=)
c.3711T= (p.Leu1237=)
c.3642T= (p.Leu1214=)
c.3510T= (p.Leu1170=)
c.3378T= (p.Leu1126=)
20g.32436244C>ACA408563261ASXL1c.3532C>A (p.Leu1178Met)
c.3349C>A (p.Leu1117Met)
n.5885C>A
c.1869+1663C>A (n.1869+1663C>A)
c.3517C>A (p.Leu1173Met)
c.3529C>A (p.Leu1177Met)
c.3502C>A (p.Leu1168Met)
c.3448C>A (p.Leu1150Met)
c.2848C>A (p.Leu950Met)
c.3796C>A (p.Leu1266Met)
c.3793C>A (p.Leu1265Met)
c.3712C>A (p.Leu1238Met)
c.3643C>A (p.Leu1215Met)
c.3511C>A (p.Leu1171Met)
c.3379C>A (p.Leu1127Met)
 dbSNP
20g.32436244C>GCA408563262ASXL1c.3532C>G (p.Leu1178Val)
c.3349C>G (p.Leu1117Val)
n.5885C>G
c.1869+1663C>G (n.1869+1663C>G)
c.3517C>G (p.Leu1173Val)
c.3529C>G (p.Leu1177Val)
c.3502C>G (p.Leu1168Val)
c.3448C>G (p.Leu1150Val)
c.2848C>G (p.Leu950Val)
c.3796C>G (p.Leu1266Val)
c.3793C>G (p.Leu1265Val)
c.3712C>G (p.Leu1238Val)
c.3643C>G (p.Leu1215Val)
c.3511C>G (p.Leu1171Val)
c.3379C>G (p.Leu1127Val)
20g.32436244C>TCA510467327ASXL1c.3532C>T (p.Leu1178=)
c.3349C>T (p.Leu1117=)
n.5885C>T
c.1869+1663C>T (n.1869+1663C>T)
c.3517C>T (p.Leu1173=)
c.3529C>T (p.Leu1177=)
c.3502C>T (p.Leu1168=)
c.3448C>T (p.Leu1150=)
c.2848C>T (p.Leu950=)
c.3796C>T (p.Leu1266=)
c.3793C>T (p.Leu1265=)
c.3712C>T (p.Leu1238=)
c.3643C>T (p.Leu1215=)
c.3511C>T (p.Leu1171=)
c.3379C>T (p.Leu1127=)
 dbSNP
20g.32436245T>ACA408563263ASXL1c.3533T>A (p.Leu1178Gln)
c.3350T>A (p.Leu1117Gln)
n.5886T>A
c.1869+1664T>A (n.1869+1664T>A)
c.3518T>A (p.Leu1173Gln)
c.3530T>A (p.Leu1177Gln)
c.3503T>A (p.Leu1168Gln)
c.3449T>A (p.Leu1150Gln)
c.2849T>A (p.Leu950Gln)
c.3797T>A (p.Leu1266Gln)
c.3794T>A (p.Leu1265Gln)
c.3713T>A (p.Leu1238Gln)
c.3644T>A (p.Leu1215Gln)
c.3512T>A (p.Leu1171Gln)
c.3380T>A (p.Leu1127Gln)
20g.32436245T>CCA408563264ASXL1c.3533T>C (p.Leu1178Pro)
c.3350T>C (p.Leu1117Pro)
n.5886T>C
c.1869+1664T>C (n.1869+1664T>C)
c.3518T>C (p.Leu1173Pro)
c.3530T>C (p.Leu1177Pro)
c.3503T>C (p.Leu1168Pro)
c.3449T>C (p.Leu1150Pro)
c.2849T>C (p.Leu950Pro)
c.3797T>C (p.Leu1266Pro)
c.3794T>C (p.Leu1265Pro)
c.3713T>C (p.Leu1238Pro)
c.3644T>C (p.Leu1215Pro)
c.3512T>C (p.Leu1171Pro)
c.3380T>C (p.Leu1127Pro)
20g.32436245T>GCA408563265ASXL1c.3533T>G (p.Leu1178Arg)
c.3350T>G (p.Leu1117Arg)
n.5886T>G
c.1869+1664T>G (n.1869+1664T>G)
c.3518T>G (p.Leu1173Arg)
c.3530T>G (p.Leu1177Arg)
c.3503T>G (p.Leu1168Arg)
c.3449T>G (p.Leu1150Arg)
c.2849T>G (p.Leu950Arg)
c.3797T>G (p.Leu1266Arg)
c.3794T>G (p.Leu1265Arg)
c.3713T>G (p.Leu1238Arg)
c.3644T>G (p.Leu1215Arg)
c.3512T>G (p.Leu1171Arg)
c.3380T>G (p.Leu1127Arg)
20g.32436246G>ACA510467328ASXL1c.3534G>A (p.Leu1178=)
c.3351G>A (p.Leu1117=)
n.5887G>A
c.1869+1665G>A (n.1869+1665G>A)
c.3519G>A (p.Leu1173=)
c.3531G>A (p.Leu1177=)
c.3504G>A (p.Leu1168=)
c.3450G>A (p.Leu1150=)
c.2850G>A (p.Leu950=)
c.3798G>A (p.Leu1266=)
c.3795G>A (p.Leu1265=)
c.3714G>A (p.Leu1238=)
c.3645G>A (p.Leu1215=)
c.3513G>A (p.Leu1171=)
c.3381G>A (p.Leu1127=)
 dbSNP gnomAD v4
20g.32436246G>CCA510467329ASXL1c.3534G>C (p.Leu1178=)
c.3351G>C (p.Leu1117=)
n.5887G>C
c.1869+1665G>C (n.1869+1665G>C)
c.3519G>C (p.Leu1173=)
c.3531G>C (p.Leu1177=)
c.3504G>C (p.Leu1168=)
c.3450G>C (p.Leu1150=)
c.2850G>C (p.Leu950=)
c.3798G>C (p.Leu1266=)
c.3795G>C (p.Leu1265=)
c.3714G>C (p.Leu1238=)
c.3645G>C (p.Leu1215=)
c.3513G>C (p.Leu1171=)
c.3381G>C (p.Leu1127=)
20g.32436246G=CA2360293608ASXL1c.3534G= (p.Leu1178=)
c.3351G= (p.Leu1117=)
n.5887G=
c.1869+1665G= (n.1869+1665G=)
c.3519G= (p.Leu1173=)
c.3531G= (p.Leu1177=)
c.3504G= (p.Leu1168=)
c.3450G= (p.Leu1150=)
c.2850G= (p.Leu950=)
c.3798G= (p.Leu1266=)
c.3795G= (p.Leu1265=)
c.3714G= (p.Leu1238=)
c.3645G= (p.Leu1215=)
c.3513G= (p.Leu1171=)
c.3381G= (p.Leu1127=)
20g.32436246G>TCA510467330ASXL1c.3534G>T (p.Leu1178=)
c.3351G>T (p.Leu1117=)
n.5887G>T
c.1869+1665G>T (n.1869+1665G>T)
c.3519G>T (p.Leu1173=)
c.3531G>T (p.Leu1177=)
c.3504G>T (p.Leu1168=)
c.3450G>T (p.Leu1150=)
c.2850G>T (p.Leu950=)
c.3798G>T (p.Leu1266=)
c.3795G>T (p.Leu1265=)
c.3714G>T (p.Leu1238=)
c.3645G>T (p.Leu1215=)
c.3513G>T (p.Leu1171=)
c.3381G>T (p.Leu1127=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436247C>ACA408563266ASXL1c.3535C>A (p.Pro1179Thr)
c.3352C>A (p.Pro1118Thr)
n.5888C>A
c.1869+1666C>A (n.1869+1666C>A)
c.3520C>A (p.Pro1174Thr)
c.3532C>A (p.Pro1178Thr)
c.3505C>A (p.Pro1169Thr)
c.3451C>A (p.Pro1151Thr)
c.2851C>A (p.Pro951Thr)
c.3799C>A (p.Pro1267Thr)
c.3796C>A (p.Pro1266Thr)
c.3715C>A (p.Pro1239Thr)
c.3646C>A (p.Pro1216Thr)
c.3514C>A (p.Pro1172Thr)
c.3382C>A (p.Pro1128Thr)
 dbSNP
20g.32436247C>GCA408563267ASXL1c.3535C>G (p.Pro1179Ala)
c.3352C>G (p.Pro1118Ala)
n.5888C>G
c.1869+1666C>G (n.1869+1666C>G)
c.3520C>G (p.Pro1174Ala)
c.3532C>G (p.Pro1178Ala)
c.3505C>G (p.Pro1169Ala)
c.3451C>G (p.Pro1151Ala)
c.2851C>G (p.Pro951Ala)
c.3799C>G (p.Pro1267Ala)
c.3796C>G (p.Pro1266Ala)
c.3715C>G (p.Pro1239Ala)
c.3646C>G (p.Pro1216Ala)
c.3514C>G (p.Pro1172Ala)
c.3382C>G (p.Pro1128Ala)
 dbSNP
20g.32436247C>TCA408563268ASXL1c.3535C>T (p.Pro1179Ser)
c.3352C>T (p.Pro1118Ser)
n.5888C>T
c.1869+1666C>T (n.1869+1666C>T)
c.3520C>T (p.Pro1174Ser)
c.3532C>T (p.Pro1178Ser)
c.3505C>T (p.Pro1169Ser)
c.3451C>T (p.Pro1151Ser)
c.2851C>T (p.Pro951Ser)
c.3799C>T (p.Pro1267Ser)
c.3796C>T (p.Pro1266Ser)
c.3715C>T (p.Pro1239Ser)
c.3646C>T (p.Pro1216Ser)
c.3514C>T (p.Pro1172Ser)
c.3382C>T (p.Pro1128Ser)
 dbSNP
20g.32436248C>ACA408563270ASXL1c.3536C>A (p.Pro1179Gln)
c.3353C>A (p.Pro1118Gln)
n.5889C>A
c.1869+1667C>A (n.1869+1667C>A)
c.3521C>A (p.Pro1174Gln)
c.3533C>A (p.Pro1178Gln)
c.3506C>A (p.Pro1169Gln)
c.3452C>A (p.Pro1151Gln)
c.2852C>A (p.Pro951Gln)
c.3800C>A (p.Pro1267Gln)
c.3797C>A (p.Pro1266Gln)
c.3716C>A (p.Pro1239Gln)
c.3647C>A (p.Pro1216Gln)
c.3515C>A (p.Pro1172Gln)
c.3383C>A (p.Pro1128Gln)
20g.32436248C>GCA408563271ASXL1c.3536C>G (p.Pro1179Arg)
c.3353C>G (p.Pro1118Arg)
n.5889C>G
c.1869+1667C>G (n.1869+1667C>G)
c.3521C>G (p.Pro1174Arg)
c.3533C>G (p.Pro1178Arg)
c.3506C>G (p.Pro1169Arg)
c.3452C>G (p.Pro1151Arg)
c.2852C>G (p.Pro951Arg)
c.3800C>G (p.Pro1267Arg)
c.3797C>G (p.Pro1266Arg)
c.3716C>G (p.Pro1239Arg)
c.3647C>G (p.Pro1216Arg)
c.3515C>G (p.Pro1172Arg)
c.3383C>G (p.Pro1128Arg)
20g.32436248C>TCA408563269ASXL1c.3536C>T (p.Pro1179Leu)
c.3353C>T (p.Pro1118Leu)
n.5889C>T
c.1869+1667C>T (n.1869+1667C>T)
c.3521C>T (p.Pro1174Leu)
c.3533C>T (p.Pro1178Leu)
c.3506C>T (p.Pro1169Leu)
c.3452C>T (p.Pro1151Leu)
c.2852C>T (p.Pro951Leu)
c.3800C>T (p.Pro1267Leu)
c.3797C>T (p.Pro1266Leu)
c.3716C>T (p.Pro1239Leu)
c.3647C>T (p.Pro1216Leu)
c.3515C>T (p.Pro1172Leu)
c.3383C>T (p.Pro1128Leu)

Number of alleles fetched