Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32435985C>ACA510467202ASXL1c.3273C>A (p.Ala1091=)
c.3090C>A (p.Ala1030=)
n.5626C>A
c.1869+1404C>A (n.1869+1404C>A)
c.3258C>A (p.Ala1086=)
c.3270C>A (p.Ala1090=)
c.3243C>A (p.Ala1081=)
c.3189C>A (p.Ala1063=)
c.2589C>A (p.Ala863=)
c.3537C>A (p.Ala1179=)
c.3534C>A (p.Ala1178=)
c.3453C>A (p.Ala1151=)
c.3384C>A (p.Ala1128=)
c.3252C>A (p.Ala1084=)
c.3120C>A (p.Ala1040=)
20g.32435985C=CA2360293483ASXL1c.3273C= (p.Ala1091=)
c.3090C= (p.Ala1030=)
n.5626C=
c.1869+1404C= (n.1869+1404C=)
c.3258C= (p.Ala1086=)
c.3270C= (p.Ala1090=)
c.3243C= (p.Ala1081=)
c.3189C= (p.Ala1063=)
c.2589C= (p.Ala863=)
c.3537C= (p.Ala1179=)
c.3534C= (p.Ala1178=)
c.3453C= (p.Ala1151=)
c.3384C= (p.Ala1128=)
c.3252C= (p.Ala1084=)
c.3120C= (p.Ala1040=)
20g.32435985C>GCA510467203ASXL1c.3273C>G (p.Ala1091=)
c.3090C>G (p.Ala1030=)
n.5626C>G
c.1869+1404C>G (n.1869+1404C>G)
c.3258C>G (p.Ala1086=)
c.3270C>G (p.Ala1090=)
c.3243C>G (p.Ala1081=)
c.3189C>G (p.Ala1063=)
c.2589C>G (p.Ala863=)
c.3537C>G (p.Ala1179=)
c.3534C>G (p.Ala1178=)
c.3453C>G (p.Ala1151=)
c.3384C>G (p.Ala1128=)
c.3252C>G (p.Ala1084=)
c.3120C>G (p.Ala1040=)
20g.32435985C>TCA9808785ASXL1c.3273C>T (p.Ala1091=)
c.3090C>T (p.Ala1030=)
n.5626C>T
c.1869+1404C>T (n.1869+1404C>T)
c.3258C>T (p.Ala1086=)
c.3270C>T (p.Ala1090=)
c.3243C>T (p.Ala1081=)
c.3189C>T (p.Ala1063=)
c.2589C>T (p.Ala863=)
c.3537C>T (p.Ala1179=)
c.3534C>T (p.Ala1178=)
c.3453C>T (p.Ala1151=)
c.3384C>T (p.Ala1128=)
c.3252C>T (p.Ala1084=)
c.3120C>T (p.Ala1040=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435986G>ACA9808786ASXL1c.3274G>A (p.Val1092Met)
c.3091G>A (p.Val1031Met)
n.5627G>A
c.1869+1405G>A (n.1869+1405G>A)
c.3259G>A (p.Val1087Met)
c.3271G>A (p.Val1091Met)
c.3244G>A (p.Val1082Met)
c.3190G>A (p.Val1064Met)
c.2590G>A (p.Val864Met)
c.3538G>A (p.Val1180Met)
c.3535G>A (p.Val1179Met)
c.3454G>A (p.Val1152Met)
c.3385G>A (p.Val1129Met)
c.3253G>A (p.Val1085Met)
c.3121G>A (p.Val1041Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435986G>CCA408562717ASXL1c.3274G>C (p.Val1092Leu)
c.3091G>C (p.Val1031Leu)
n.5627G>C
c.1869+1405G>C (n.1869+1405G>C)
c.3259G>C (p.Val1087Leu)
c.3271G>C (p.Val1091Leu)
c.3244G>C (p.Val1082Leu)
c.3190G>C (p.Val1064Leu)
c.2590G>C (p.Val864Leu)
c.3538G>C (p.Val1180Leu)
c.3535G>C (p.Val1179Leu)
c.3454G>C (p.Val1152Leu)
c.3385G>C (p.Val1129Leu)
c.3253G>C (p.Val1085Leu)
c.3121G>C (p.Val1041Leu)
20g.32435986G=CA2360293484ASXL1c.3274G= (p.Val1092=)
c.3091G= (p.Val1031=)
n.5627G=
c.1869+1405G= (n.1869+1405G=)
c.3259G= (p.Val1087=)
c.3271G= (p.Val1091=)
c.3244G= (p.Val1082=)
c.3190G= (p.Val1064=)
c.2590G= (p.Val864=)
c.3538G= (p.Val1180=)
c.3535G= (p.Val1179=)
c.3454G= (p.Val1152=)
c.3385G= (p.Val1129=)
c.3253G= (p.Val1085=)
c.3121G= (p.Val1041=)
20g.32435986G>TCA408562718ASXL1c.3274G>T (p.Val1092Leu)
c.3091G>T (p.Val1031Leu)
n.5627G>T
c.1869+1405G>T (n.1869+1405G>T)
c.3259G>T (p.Val1087Leu)
c.3271G>T (p.Val1091Leu)
c.3244G>T (p.Val1082Leu)
c.3190G>T (p.Val1064Leu)
c.2590G>T (p.Val864Leu)
c.3538G>T (p.Val1180Leu)
c.3535G>T (p.Val1179Leu)
c.3454G>T (p.Val1152Leu)
c.3385G>T (p.Val1129Leu)
c.3253G>T (p.Val1085Leu)
c.3121G>T (p.Val1041Leu)
 gnomAD v4
20g.32435987T>ACA408562719ASXL1c.3275T>A (p.Val1092Glu)
c.3092T>A (p.Val1031Glu)
n.5628T>A
c.1869+1406T>A (n.1869+1406T>A)
c.3260T>A (p.Val1087Glu)
c.3272T>A (p.Val1091Glu)
c.3245T>A (p.Val1082Glu)
c.3191T>A (p.Val1064Glu)
c.2591T>A (p.Val864Glu)
c.3539T>A (p.Val1180Glu)
c.3536T>A (p.Val1179Glu)
c.3455T>A (p.Val1152Glu)
c.3386T>A (p.Val1129Glu)
c.3254T>A (p.Val1085Glu)
c.3122T>A (p.Val1041Glu)
20g.32435987T>CCA408562720ASXL1c.3275T>C (p.Val1092Ala)
c.3092T>C (p.Val1031Ala)
n.5628T>C
c.1869+1406T>C (n.1869+1406T>C)
c.3260T>C (p.Val1087Ala)
c.3272T>C (p.Val1091Ala)
c.3245T>C (p.Val1082Ala)
c.3191T>C (p.Val1064Ala)
c.2591T>C (p.Val864Ala)
c.3539T>C (p.Val1180Ala)
c.3536T>C (p.Val1179Ala)
c.3455T>C (p.Val1152Ala)
c.3386T>C (p.Val1129Ala)
c.3254T>C (p.Val1085Ala)
c.3122T>C (p.Val1041Ala)
20g.32435987T>GCA408562721ASXL1c.3275T>G (p.Val1092Gly)
c.3092T>G (p.Val1031Gly)
n.5628T>G
c.1869+1406T>G (n.1869+1406T>G)
c.3260T>G (p.Val1087Gly)
c.3272T>G (p.Val1091Gly)
c.3245T>G (p.Val1082Gly)
c.3191T>G (p.Val1064Gly)
c.2591T>G (p.Val864Gly)
c.3539T>G (p.Val1180Gly)
c.3536T>G (p.Val1179Gly)
c.3455T>G (p.Val1152Gly)
c.3386T>G (p.Val1129Gly)
c.3254T>G (p.Val1085Gly)
c.3122T>G (p.Val1041Gly)
20g.32435988G>ACA510467210ASXL1c.3276G>A (p.Val1092=)
c.3093G>A (p.Val1031=)
n.5629G>A
c.1869+1407G>A (n.1869+1407G>A)
c.3261G>A (p.Val1087=)
c.3273G>A (p.Val1091=)
c.3246G>A (p.Val1082=)
c.3192G>A (p.Val1064=)
c.2592G>A (p.Val864=)
c.3540G>A (p.Val1180=)
c.3537G>A (p.Val1179=)
c.3456G>A (p.Val1152=)
c.3387G>A (p.Val1129=)
c.3255G>A (p.Val1085=)
c.3123G>A (p.Val1041=)
20g.32435988G>CCA510467209ASXL1c.3276G>C (p.Val1092=)
c.3093G>C (p.Val1031=)
n.5629G>C
c.1869+1407G>C (n.1869+1407G>C)
c.3261G>C (p.Val1087=)
c.3273G>C (p.Val1091=)
c.3246G>C (p.Val1082=)
c.3192G>C (p.Val1064=)
c.2592G>C (p.Val864=)
c.3540G>C (p.Val1180=)
c.3537G>C (p.Val1179=)
c.3456G>C (p.Val1152=)
c.3387G>C (p.Val1129=)
c.3255G>C (p.Val1085=)
c.3123G>C (p.Val1041=)
20g.32435988G>TCA510467208ASXL1c.3276G>T (p.Val1092=)
c.3093G>T (p.Val1031=)
n.5629G>T
c.1869+1407G>T (n.1869+1407G>T)
c.3261G>T (p.Val1087=)
c.3273G>T (p.Val1091=)
c.3246G>T (p.Val1082=)
c.3192G>T (p.Val1064=)
c.2592G>T (p.Val864=)
c.3540G>T (p.Val1180=)
c.3537G>T (p.Val1179=)
c.3456G>T (p.Val1152=)
c.3387G>T (p.Val1129=)
c.3255G>T (p.Val1085=)
c.3123G>T (p.Val1041=)
20g.32435989T>ACA408562722ASXL1c.3277T>A (p.Cys1093Ser)
c.3094T>A (p.Cys1032Ser)
n.5630T>A
c.1869+1408T>A (n.1869+1408T>A)
c.3262T>A (p.Cys1088Ser)
c.3274T>A (p.Cys1092Ser)
c.3247T>A (p.Cys1083Ser)
c.3193T>A (p.Cys1065Ser)
c.2593T>A (p.Cys865Ser)
c.3541T>A (p.Cys1181Ser)
c.3538T>A (p.Cys1180Ser)
c.3457T>A (p.Cys1153Ser)
c.3388T>A (p.Cys1130Ser)
c.3256T>A (p.Cys1086Ser)
c.3124T>A (p.Cys1042Ser)
20g.32435989T>CCA408562723ASXL1c.3277T>C (p.Cys1093Arg)
c.3094T>C (p.Cys1032Arg)
n.5630T>C
c.1869+1408T>C (n.1869+1408T>C)
c.3262T>C (p.Cys1088Arg)
c.3274T>C (p.Cys1092Arg)
c.3247T>C (p.Cys1083Arg)
c.3193T>C (p.Cys1065Arg)
c.2593T>C (p.Cys865Arg)
c.3541T>C (p.Cys1181Arg)
c.3538T>C (p.Cys1180Arg)
c.3457T>C (p.Cys1153Arg)
c.3388T>C (p.Cys1130Arg)
c.3256T>C (p.Cys1086Arg)
c.3124T>C (p.Cys1042Arg)
20g.32435989T>GCA408562724ASXL1c.3277T>G (p.Cys1093Gly)
c.3094T>G (p.Cys1032Gly)
n.5630T>G
c.1869+1408T>G (n.1869+1408T>G)
c.3262T>G (p.Cys1088Gly)
c.3274T>G (p.Cys1092Gly)
c.3247T>G (p.Cys1083Gly)
c.3193T>G (p.Cys1065Gly)
c.2593T>G (p.Cys865Gly)
c.3541T>G (p.Cys1181Gly)
c.3538T>G (p.Cys1180Gly)
c.3457T>G (p.Cys1153Gly)
c.3388T>G (p.Cys1130Gly)
c.3256T>G (p.Cys1086Gly)
c.3124T>G (p.Cys1042Gly)
20g.32435990G>ACA408562725ASXL1c.3278G>A (p.Cys1093Tyr)
c.3095G>A (p.Cys1032Tyr)
n.5631G>A
c.1869+1409G>A (n.1869+1409G>A)
c.3263G>A (p.Cys1088Tyr)
c.3275G>A (p.Cys1092Tyr)
c.3248G>A (p.Cys1083Tyr)
c.3194G>A (p.Cys1065Tyr)
c.2594G>A (p.Cys865Tyr)
c.3542G>A (p.Cys1181Tyr)
c.3539G>A (p.Cys1180Tyr)
c.3458G>A (p.Cys1153Tyr)
c.3389G>A (p.Cys1130Tyr)
c.3257G>A (p.Cys1086Tyr)
c.3125G>A (p.Cys1042Tyr)
 dbSNP gnomAD v4
20g.32435990G>CCA408562726ASXL1c.3278G>C (p.Cys1093Ser)
c.3095G>C (p.Cys1032Ser)
n.5631G>C
c.1869+1409G>C (n.1869+1409G>C)
c.3263G>C (p.Cys1088Ser)
c.3275G>C (p.Cys1092Ser)
c.3248G>C (p.Cys1083Ser)
c.3194G>C (p.Cys1065Ser)
c.2594G>C (p.Cys865Ser)
c.3542G>C (p.Cys1181Ser)
c.3539G>C (p.Cys1180Ser)
c.3458G>C (p.Cys1153Ser)
c.3389G>C (p.Cys1130Ser)
c.3257G>C (p.Cys1086Ser)
c.3125G>C (p.Cys1042Ser)
20g.32435990G>TCA408562727ASXL1c.3278G>T (p.Cys1093Phe)
c.3095G>T (p.Cys1032Phe)
n.5631G>T
c.1869+1409G>T (n.1869+1409G>T)
c.3263G>T (p.Cys1088Phe)
c.3275G>T (p.Cys1092Phe)
c.3248G>T (p.Cys1083Phe)
c.3194G>T (p.Cys1065Phe)
c.2594G>T (p.Cys865Phe)
c.3542G>T (p.Cys1181Phe)
c.3539G>T (p.Cys1180Phe)
c.3458G>T (p.Cys1153Phe)
c.3389G>T (p.Cys1130Phe)
c.3257G>T (p.Cys1086Phe)
c.3125G>T (p.Cys1042Phe)
20g.32435991C>ACA408562728ASXL1c.3279C>A (p.Cys1093Ter)
c.3096C>A (p.Cys1032Ter)
n.5632C>A
c.1869+1410C>A (n.1869+1410C>A)
c.3264C>A (p.Cys1088Ter)
c.3276C>A (p.Cys1092Ter)
c.3249C>A (p.Cys1083Ter)
c.3195C>A (p.Cys1065Ter)
c.2595C>A (p.Cys865Ter)
c.3543C>A (p.Cys1181Ter)
c.3540C>A (p.Cys1180Ter)
c.3459C>A (p.Cys1153Ter)
c.3390C>A (p.Cys1130Ter)
c.3258C>A (p.Cys1086Ter)
c.3126C>A (p.Cys1042Ter)
 dbSNP
20g.32435991C>GCA408562729ASXL1c.3279C>G (p.Cys1093Trp)
c.3096C>G (p.Cys1032Trp)
n.5632C>G
c.1869+1410C>G (n.1869+1410C>G)
c.3264C>G (p.Cys1088Trp)
c.3276C>G (p.Cys1092Trp)
c.3249C>G (p.Cys1083Trp)
c.3195C>G (p.Cys1065Trp)
c.2595C>G (p.Cys865Trp)
c.3543C>G (p.Cys1181Trp)
c.3540C>G (p.Cys1180Trp)
c.3459C>G (p.Cys1153Trp)
c.3390C>G (p.Cys1130Trp)
c.3258C>G (p.Cys1086Trp)
c.3126C>G (p.Cys1042Trp)
20g.32435991C>TCA510467211ASXL1c.3279C>T (p.Cys1093=)
c.3096C>T (p.Cys1032=)
n.5632C>T
c.1869+1410C>T (n.1869+1410C>T)
c.3264C>T (p.Cys1088=)
c.3276C>T (p.Cys1092=)
c.3249C>T (p.Cys1083=)
c.3195C>T (p.Cys1065=)
c.2595C>T (p.Cys865=)
c.3543C>T (p.Cys1181=)
c.3540C>T (p.Cys1180=)
c.3459C>T (p.Cys1153=)
c.3390C>T (p.Cys1130=)
c.3258C>T (p.Cys1086=)
c.3126C>T (p.Cys1042=)
 ClinVar dbSNP gnomAD v4
20g.32435992C>ACA408562731ASXL1c.3280C>A (p.Leu1094Met)
c.3097C>A (p.Leu1033Met)
n.5633C>A
c.1869+1411C>A (n.1869+1411C>A)
c.3265C>A (p.Leu1089Met)
c.3277C>A (p.Leu1093Met)
c.3250C>A (p.Leu1084Met)
c.3196C>A (p.Leu1066Met)
c.2596C>A (p.Leu866Met)
c.3544C>A (p.Leu1182Met)
c.3541C>A (p.Leu1181Met)
c.3460C>A (p.Leu1154Met)
c.3391C>A (p.Leu1131Met)
c.3259C>A (p.Leu1087Met)
c.3127C>A (p.Leu1043Met)
20g.32435992C=CA2360293485ASXL1c.3280C= (p.Leu1094=)
c.3097C= (p.Leu1033=)
n.5633C=
c.1869+1411C= (n.1869+1411C=)
c.3265C= (p.Leu1089=)
c.3277C= (p.Leu1093=)
c.3250C= (p.Leu1084=)
c.3196C= (p.Leu1066=)
c.2596C= (p.Leu866=)
c.3544C= (p.Leu1182=)
c.3541C= (p.Leu1181=)
c.3460C= (p.Leu1154=)
c.3391C= (p.Leu1131=)
c.3259C= (p.Leu1087=)
c.3127C= (p.Leu1043=)
20g.32435992C>GCA408562730ASXL1c.3280C>G (p.Leu1094Val)
c.3097C>G (p.Leu1033Val)
n.5633C>G
c.1869+1411C>G (n.1869+1411C>G)
c.3265C>G (p.Leu1089Val)
c.3277C>G (p.Leu1093Val)
c.3250C>G (p.Leu1084Val)
c.3196C>G (p.Leu1066Val)
c.2596C>G (p.Leu866Val)
c.3544C>G (p.Leu1182Val)
c.3541C>G (p.Leu1181Val)
c.3460C>G (p.Leu1154Val)
c.3391C>G (p.Leu1131Val)
c.3259C>G (p.Leu1087Val)
c.3127C>G (p.Leu1043Val)
 dbSNP gnomAD v4
20g.32435992C>TCA9808787ASXL1c.3280C>T (p.Leu1094=)
c.3097C>T (p.Leu1033=)
n.5633C>T
c.1869+1411C>T (n.1869+1411C>T)
c.3265C>T (p.Leu1089=)
c.3277C>T (p.Leu1093=)
c.3250C>T (p.Leu1084=)
c.3196C>T (p.Leu1066=)
c.2596C>T (p.Leu866=)
c.3544C>T (p.Leu1182=)
c.3541C>T (p.Leu1181=)
c.3460C>T (p.Leu1154=)
c.3391C>T (p.Leu1131=)
c.3259C>T (p.Leu1087=)
c.3127C>T (p.Leu1043=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435993T>ACA408562732ASXL1c.3281T>A (p.Leu1094Gln)
c.3098T>A (p.Leu1033Gln)
n.5634T>A
c.1869+1412T>A (n.1869+1412T>A)
c.3266T>A (p.Leu1089Gln)
c.3278T>A (p.Leu1093Gln)
c.3251T>A (p.Leu1084Gln)
c.3197T>A (p.Leu1066Gln)
c.2597T>A (p.Leu866Gln)
c.3545T>A (p.Leu1182Gln)
c.3542T>A (p.Leu1181Gln)
c.3461T>A (p.Leu1154Gln)
c.3392T>A (p.Leu1131Gln)
c.3260T>A (p.Leu1087Gln)
c.3128T>A (p.Leu1043Gln)
20g.32435993T>CCA408562733ASXL1c.3281T>C (p.Leu1094Pro)
c.3098T>C (p.Leu1033Pro)
n.5634T>C
c.1869+1412T>C (n.1869+1412T>C)
c.3266T>C (p.Leu1089Pro)
c.3278T>C (p.Leu1093Pro)
c.3251T>C (p.Leu1084Pro)
c.3197T>C (p.Leu1066Pro)
c.2597T>C (p.Leu866Pro)
c.3545T>C (p.Leu1182Pro)
c.3542T>C (p.Leu1181Pro)
c.3461T>C (p.Leu1154Pro)
c.3392T>C (p.Leu1131Pro)
c.3260T>C (p.Leu1087Pro)
c.3128T>C (p.Leu1043Pro)
 gnomAD v4
20g.32435993T>GCA408562734ASXL1c.3281T>G (p.Leu1094Arg)
c.3098T>G (p.Leu1033Arg)
n.5634T>G
c.1869+1412T>G (n.1869+1412T>G)
c.3266T>G (p.Leu1089Arg)
c.3278T>G (p.Leu1093Arg)
c.3251T>G (p.Leu1084Arg)
c.3197T>G (p.Leu1066Arg)
c.2597T>G (p.Leu866Arg)
c.3545T>G (p.Leu1182Arg)
c.3542T>G (p.Leu1181Arg)
c.3461T>G (p.Leu1154Arg)
c.3392T>G (p.Leu1131Arg)
c.3260T>G (p.Leu1087Arg)
c.3128T>G (p.Leu1043Arg)
20g.32435994G>ACA510467213ASXL1c.3282G>A (p.Leu1094=)
c.3099G>A (p.Leu1033=)
n.5635G>A
c.1869+1413G>A (n.1869+1413G>A)
c.3267G>A (p.Leu1089=)
c.3279G>A (p.Leu1093=)
c.3252G>A (p.Leu1084=)
c.3198G>A (p.Leu1066=)
c.2598G>A (p.Leu866=)
c.3546G>A (p.Leu1182=)
c.3543G>A (p.Leu1181=)
c.3462G>A (p.Leu1154=)
c.3393G>A (p.Leu1131=)
c.3261G>A (p.Leu1087=)
c.3129G>A (p.Leu1043=)
 dbSNP COSMIC COSMIC
20g.32435994G>CCA510467214ASXL1c.3282G>C (p.Leu1094=)
c.3099G>C (p.Leu1033=)
n.5635G>C
c.1869+1413G>C (n.1869+1413G>C)
c.3267G>C (p.Leu1089=)
c.3279G>C (p.Leu1093=)
c.3252G>C (p.Leu1084=)
c.3198G>C (p.Leu1066=)
c.2598G>C (p.Leu866=)
c.3546G>C (p.Leu1182=)
c.3543G>C (p.Leu1181=)
c.3462G>C (p.Leu1154=)
c.3393G>C (p.Leu1131=)
c.3261G>C (p.Leu1087=)
c.3129G>C (p.Leu1043=)
20g.32435994G>TCA510467215ASXL1c.3282G>T (p.Leu1094=)
c.3099G>T (p.Leu1033=)
n.5635G>T
c.1869+1413G>T (n.1869+1413G>T)
c.3267G>T (p.Leu1089=)
c.3279G>T (p.Leu1093=)
c.3252G>T (p.Leu1084=)
c.3198G>T (p.Leu1066=)
c.2598G>T (p.Leu866=)
c.3546G>T (p.Leu1182=)
c.3543G>T (p.Leu1181=)
c.3462G>T (p.Leu1154=)
c.3393G>T (p.Leu1131=)
c.3261G>T (p.Leu1087=)
c.3129G>T (p.Leu1043=)
20g.32435995T>ACA408562735ASXL1c.3283T>A (p.Ser1095Thr)
c.3100T>A (p.Ser1034Thr)
n.5636T>A
c.1869+1414T>A (n.1869+1414T>A)
c.3268T>A (p.Ser1090Thr)
c.3280T>A (p.Ser1094Thr)
c.3253T>A (p.Ser1085Thr)
c.3199T>A (p.Ser1067Thr)
c.2599T>A (p.Ser867Thr)
c.3547T>A (p.Ser1183Thr)
c.3544T>A (p.Ser1182Thr)
c.3463T>A (p.Ser1155Thr)
c.3394T>A (p.Ser1132Thr)
c.3262T>A (p.Ser1088Thr)
c.3130T>A (p.Ser1044Thr)
20g.32435995T>CCA408562736ASXL1c.3283T>C (p.Ser1095Pro)
c.3100T>C (p.Ser1034Pro)
n.5636T>C
c.1869+1414T>C (n.1869+1414T>C)
c.3268T>C (p.Ser1090Pro)
c.3280T>C (p.Ser1094Pro)
c.3253T>C (p.Ser1085Pro)
c.3199T>C (p.Ser1067Pro)
c.2599T>C (p.Ser867Pro)
c.3547T>C (p.Ser1183Pro)
c.3544T>C (p.Ser1182Pro)
c.3463T>C (p.Ser1155Pro)
c.3394T>C (p.Ser1132Pro)
c.3262T>C (p.Ser1088Pro)
c.3130T>C (p.Ser1044Pro)
 ClinVar
20g.32435995T>GCA408562737ASXL1c.3283T>G (p.Ser1095Ala)
c.3100T>G (p.Ser1034Ala)
n.5636T>G
c.1869+1414T>G (n.1869+1414T>G)
c.3268T>G (p.Ser1090Ala)
c.3280T>G (p.Ser1094Ala)
c.3253T>G (p.Ser1085Ala)
c.3199T>G (p.Ser1067Ala)
c.2599T>G (p.Ser867Ala)
c.3547T>G (p.Ser1183Ala)
c.3544T>G (p.Ser1182Ala)
c.3463T>G (p.Ser1155Ala)
c.3394T>G (p.Ser1132Ala)
c.3262T>G (p.Ser1088Ala)
c.3130T>G (p.Ser1044Ala)
20g.32435996C>ACA408562738ASXL1c.3284C>A (p.Ser1095Tyr)
c.3101C>A (p.Ser1034Tyr)
n.5637C>A
c.1869+1415C>A (n.1869+1415C>A)
c.3269C>A (p.Ser1090Tyr)
c.3281C>A (p.Ser1094Tyr)
c.3254C>A (p.Ser1085Tyr)
c.3200C>A (p.Ser1067Tyr)
c.2600C>A (p.Ser867Tyr)
c.3548C>A (p.Ser1183Tyr)
c.3545C>A (p.Ser1182Tyr)
c.3464C>A (p.Ser1155Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3263C>A (p.Ser1088Tyr)
c.3131C>A (p.Ser1044Tyr)
20g.32435996C=CA2360293486ASXL1c.3284C= (p.Ser1095=)
c.3101C= (p.Ser1034=)
n.5637C=
c.1869+1415C= (n.1869+1415C=)
c.3269C= (p.Ser1090=)
c.3281C= (p.Ser1094=)
c.3254C= (p.Ser1085=)
c.3200C= (p.Ser1067=)
c.2600C= (p.Ser867=)
c.3548C= (p.Ser1183=)
c.3545C= (p.Ser1182=)
c.3464C= (p.Ser1155=)
c.3395C= (p.Ser1132=)
c.3263C= (p.Ser1088=)
c.3131C= (p.Ser1044=)
20g.32435996C>GCA9808788ASXL1c.3284C>G (p.Ser1095Cys)
c.3101C>G (p.Ser1034Cys)
n.5637C>G
c.1869+1415C>G (n.1869+1415C>G)
c.3269C>G (p.Ser1090Cys)
c.3281C>G (p.Ser1094Cys)
c.3254C>G (p.Ser1085Cys)
c.3200C>G (p.Ser1067Cys)
c.2600C>G (p.Ser867Cys)
c.3548C>G (p.Ser1183Cys)
c.3545C>G (p.Ser1182Cys)
c.3464C>G (p.Ser1155Cys)
c.3395C>G (p.Ser1132Cys)
c.3263C>G (p.Ser1088Cys)
c.3131C>G (p.Ser1044Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435996C>TCA408562739ASXL1c.3284C>T (p.Ser1095Phe)
c.3101C>T (p.Ser1034Phe)
n.5637C>T
c.1869+1415C>T (n.1869+1415C>T)
c.3269C>T (p.Ser1090Phe)
c.3281C>T (p.Ser1094Phe)
c.3254C>T (p.Ser1085Phe)
c.3200C>T (p.Ser1067Phe)
c.2600C>T (p.Ser867Phe)
c.3548C>T (p.Ser1183Phe)
c.3545C>T (p.Ser1182Phe)
c.3464C>T (p.Ser1155Phe)
c.3395C>T (p.Ser1132Phe)
c.3263C>T (p.Ser1088Phe)
c.3131C>T (p.Ser1044Phe)
20g.32435997C>ACA510467219ASXL1c.3285C>A (p.Ser1095=)
c.3102C>A (p.Ser1034=)
n.5638C>A
c.1869+1416C>A (n.1869+1416C>A)
c.3270C>A (p.Ser1090=)
c.3282C>A (p.Ser1094=)
c.3255C>A (p.Ser1085=)
c.3201C>A (p.Ser1067=)
c.2601C>A (p.Ser867=)
c.3549C>A (p.Ser1183=)
c.3546C>A (p.Ser1182=)
c.3465C>A (p.Ser1155=)
c.3396C>A (p.Ser1132=)
c.3264C>A (p.Ser1088=)
c.3132C>A (p.Ser1044=)
20g.32435997C>GCA510467220ASXL1c.3285C>G (p.Ser1095=)
c.3102C>G (p.Ser1034=)
n.5638C>G
c.1869+1416C>G (n.1869+1416C>G)
c.3270C>G (p.Ser1090=)
c.3282C>G (p.Ser1094=)
c.3255C>G (p.Ser1085=)
c.3201C>G (p.Ser1067=)
c.2601C>G (p.Ser867=)
c.3549C>G (p.Ser1183=)
c.3546C>G (p.Ser1182=)
c.3465C>G (p.Ser1155=)
c.3396C>G (p.Ser1132=)
c.3264C>G (p.Ser1088=)
c.3132C>G (p.Ser1044=)
20g.32435997C>TCA510467221ASXL1c.3285C>T (p.Ser1095=)
c.3102C>T (p.Ser1034=)
n.5638C>T
c.1869+1416C>T (n.1869+1416C>T)
c.3270C>T (p.Ser1090=)
c.3282C>T (p.Ser1094=)
c.3255C>T (p.Ser1085=)
c.3201C>T (p.Ser1067=)
c.2601C>T (p.Ser867=)
c.3549C>T (p.Ser1183=)
c.3546C>T (p.Ser1182=)
c.3465C>T (p.Ser1155=)
c.3396C>T (p.Ser1132=)
c.3264C>T (p.Ser1088=)
c.3132C>T (p.Ser1044=)
 dbSNP
20g.32435998A=CA2360293487ASXL1c.3286A= (p.Met1096=)
c.3103A= (p.Met1035=)
n.5639A=
c.1869+1417A= (n.1869+1417A=)
c.3271A= (p.Met1091=)
c.3283A= (p.Met1095=)
c.3256A= (p.Met1086=)
c.3202A= (p.Met1068=)
c.2602A= (p.Met868=)
c.3550A= (p.Met1184=)
c.3547A= (p.Met1183=)
c.3466A= (p.Met1156=)
c.3397A= (p.Met1133=)
c.3265A= (p.Met1089=)
c.3133A= (p.Met1045=)
20g.32435998A>CCA408562740ASXL1c.3286A>C (p.Met1096Leu)
c.3103A>C (p.Met1035Leu)
n.5639A>C
c.1869+1417A>C (n.1869+1417A>C)
c.3271A>C (p.Met1091Leu)
c.3283A>C (p.Met1095Leu)
c.3256A>C (p.Met1086Leu)
c.3202A>C (p.Met1068Leu)
c.2602A>C (p.Met868Leu)
c.3550A>C (p.Met1184Leu)
c.3547A>C (p.Met1183Leu)
c.3466A>C (p.Met1156Leu)
c.3397A>C (p.Met1133Leu)
c.3265A>C (p.Met1089Leu)
c.3133A>C (p.Met1045Leu)
 dbSNP gnomAD v4
20g.32435998A>GCA9808789ASXL1c.3286A>G (p.Met1096Val)
c.3103A>G (p.Met1035Val)
n.5639A>G
c.1869+1417A>G (n.1869+1417A>G)
c.3271A>G (p.Met1091Val)
c.3283A>G (p.Met1095Val)
c.3256A>G (p.Met1086Val)
c.3202A>G (p.Met1068Val)
c.2602A>G (p.Met868Val)
c.3550A>G (p.Met1184Val)
c.3547A>G (p.Met1183Val)
c.3466A>G (p.Met1156Val)
c.3397A>G (p.Met1133Val)
c.3265A>G (p.Met1089Val)
c.3133A>G (p.Met1045Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435998A>TCA408562741ASXL1c.3286A>T (p.Met1096Leu)
c.3103A>T (p.Met1035Leu)
n.5639A>T
c.1869+1417A>T (n.1869+1417A>T)
c.3271A>T (p.Met1091Leu)
c.3283A>T (p.Met1095Leu)
c.3256A>T (p.Met1086Leu)
c.3202A>T (p.Met1068Leu)
c.2602A>T (p.Met868Leu)
c.3550A>T (p.Met1184Leu)
c.3547A>T (p.Met1183Leu)
c.3466A>T (p.Met1156Leu)
c.3397A>T (p.Met1133Leu)
c.3265A>T (p.Met1089Leu)
c.3133A>T (p.Met1045Leu)
20g.32435999T>ACA408562744ASXL1c.3287T>A (p.Met1096Lys)
c.3104T>A (p.Met1035Lys)
n.5640T>A
c.1869+1418T>A (n.1869+1418T>A)
c.3272T>A (p.Met1091Lys)
c.3284T>A (p.Met1095Lys)
c.3257T>A (p.Met1086Lys)
c.3203T>A (p.Met1068Lys)
c.2603T>A (p.Met868Lys)
c.3551T>A (p.Met1184Lys)
c.3548T>A (p.Met1183Lys)
c.3467T>A (p.Met1156Lys)
c.3398T>A (p.Met1133Lys)
c.3266T>A (p.Met1089Lys)
c.3134T>A (p.Met1045Lys)
20g.32435999T>CCA408562743ASXL1c.3287T>C (p.Met1096Thr)
c.3104T>C (p.Met1035Thr)
n.5640T>C
c.1869+1418T>C (n.1869+1418T>C)
c.3272T>C (p.Met1091Thr)
c.3284T>C (p.Met1095Thr)
c.3257T>C (p.Met1086Thr)
c.3203T>C (p.Met1068Thr)
c.2603T>C (p.Met868Thr)
c.3551T>C (p.Met1184Thr)
c.3548T>C (p.Met1183Thr)
c.3467T>C (p.Met1156Thr)
c.3398T>C (p.Met1133Thr)
c.3266T>C (p.Met1089Thr)
c.3134T>C (p.Met1045Thr)
20g.32435999T>GCA408562742ASXL1c.3287T>G (p.Met1096Arg)
c.3104T>G (p.Met1035Arg)
n.5640T>G
c.1869+1418T>G (n.1869+1418T>G)
c.3272T>G (p.Met1091Arg)
c.3284T>G (p.Met1095Arg)
c.3257T>G (p.Met1086Arg)
c.3203T>G (p.Met1068Arg)
c.2603T>G (p.Met868Arg)
c.3551T>G (p.Met1184Arg)
c.3548T>G (p.Met1183Arg)
c.3467T>G (p.Met1156Arg)
c.3398T>G (p.Met1133Arg)
c.3266T>G (p.Met1089Arg)
c.3134T>G (p.Met1045Arg)
 dbSNP
20g.32436000G>ACA408562745ASXL1c.3288G>A (p.Met1096Ile)
c.3105G>A (p.Met1035Ile)
n.5641G>A
c.1869+1419G>A (n.1869+1419G>A)
c.3273G>A (p.Met1091Ile)
c.3285G>A (p.Met1095Ile)
c.3258G>A (p.Met1086Ile)
c.3204G>A (p.Met1068Ile)
c.2604G>A (p.Met868Ile)
c.3552G>A (p.Met1184Ile)
c.3549G>A (p.Met1183Ile)
c.3468G>A (p.Met1156Ile)
c.3399G>A (p.Met1133Ile)
c.3267G>A (p.Met1089Ile)
c.3135G>A (p.Met1045Ile)
 dbSNP
20g.32436000G>CCA408562746ASXL1c.3288G>C (p.Met1096Ile)
c.3105G>C (p.Met1035Ile)
n.5641G>C
c.1869+1419G>C (n.1869+1419G>C)
c.3273G>C (p.Met1091Ile)
c.3285G>C (p.Met1095Ile)
c.3258G>C (p.Met1086Ile)
c.3204G>C (p.Met1068Ile)
c.2604G>C (p.Met868Ile)
c.3552G>C (p.Met1184Ile)
c.3549G>C (p.Met1183Ile)
c.3468G>C (p.Met1156Ile)
c.3399G>C (p.Met1133Ile)
c.3267G>C (p.Met1089Ile)
c.3135G>C (p.Met1045Ile)
 dbSNP
20g.32436000G=CA2360293488ASXL1c.3288G= (p.Met1096=)
c.3105G= (p.Met1035=)
n.5641G=
c.1869+1419G= (n.1869+1419G=)
c.3273G= (p.Met1091=)
c.3285G= (p.Met1095=)
c.3258G= (p.Met1086=)
c.3204G= (p.Met1068=)
c.2604G= (p.Met868=)
c.3552G= (p.Met1184=)
c.3549G= (p.Met1183=)
c.3468G= (p.Met1156=)
c.3399G= (p.Met1133=)
c.3267G= (p.Met1089=)
c.3135G= (p.Met1045=)
20g.32436000G>TCA408562747ASXL1c.3288G>T (p.Met1096Ile)
c.3105G>T (p.Met1035Ile)
n.5641G>T
c.1869+1419G>T (n.1869+1419G>T)
c.3273G>T (p.Met1091Ile)
c.3285G>T (p.Met1095Ile)
c.3258G>T (p.Met1086Ile)
c.3204G>T (p.Met1068Ile)
c.2604G>T (p.Met868Ile)
c.3552G>T (p.Met1184Ile)
c.3549G>T (p.Met1183Ile)
c.3468G>T (p.Met1156Ile)
c.3399G>T (p.Met1133Ile)
c.3267G>T (p.Met1089Ile)
c.3135G>T (p.Met1045Ile)
 dbSNP gnomAD v3 gnomAD v4
20g.32436001C>ACA408562748ASXL1c.3289C>A (p.Pro1097Thr)
c.3106C>A (p.Pro1036Thr)
n.5642C>A
c.1869+1420C>A (n.1869+1420C>A)
c.3274C>A (p.Pro1092Thr)
c.3286C>A (p.Pro1096Thr)
c.3259C>A (p.Pro1087Thr)
c.3205C>A (p.Pro1069Thr)
c.2605C>A (p.Pro869Thr)
c.3553C>A (p.Pro1185Thr)
c.3550C>A (p.Pro1184Thr)
c.3469C>A (p.Pro1157Thr)
c.3400C>A (p.Pro1134Thr)
c.3268C>A (p.Pro1090Thr)
c.3136C>A (p.Pro1046Thr)
20g.32436001C=CA2360293489ASXL1c.3289C= (p.Pro1097=)
c.3106C= (p.Pro1036=)
n.5642C=
c.1869+1420C= (n.1869+1420C=)
c.3274C= (p.Pro1092=)
c.3286C= (p.Pro1096=)
c.3259C= (p.Pro1087=)
c.3205C= (p.Pro1069=)
c.2605C= (p.Pro869=)
c.3553C= (p.Pro1185=)
c.3550C= (p.Pro1184=)
c.3469C= (p.Pro1157=)
c.3400C= (p.Pro1134=)
c.3268C= (p.Pro1090=)
c.3136C= (p.Pro1046=)
20g.32436001C>GCA408562749ASXL1c.3289C>G (p.Pro1097Ala)
c.3106C>G (p.Pro1036Ala)
n.5642C>G
c.1869+1420C>G (n.1869+1420C>G)
c.3274C>G (p.Pro1092Ala)
c.3286C>G (p.Pro1096Ala)
c.3259C>G (p.Pro1087Ala)
c.3205C>G (p.Pro1069Ala)
c.2605C>G (p.Pro869Ala)
c.3553C>G (p.Pro1185Ala)
c.3550C>G (p.Pro1184Ala)
c.3469C>G (p.Pro1157Ala)
c.3400C>G (p.Pro1134Ala)
c.3268C>G (p.Pro1090Ala)
c.3136C>G (p.Pro1046Ala)
20g.32436001C>TCA408562750ASXL1c.3289C>T (p.Pro1097Ser)
c.3106C>T (p.Pro1036Ser)
n.5642C>T
c.1869+1420C>T (n.1869+1420C>T)
c.3274C>T (p.Pro1092Ser)
c.3286C>T (p.Pro1096Ser)
c.3259C>T (p.Pro1087Ser)
c.3205C>T (p.Pro1069Ser)
c.2605C>T (p.Pro869Ser)
c.3553C>T (p.Pro1185Ser)
c.3550C>T (p.Pro1184Ser)
c.3469C>T (p.Pro1157Ser)
c.3400C>T (p.Pro1134Ser)
c.3268C>T (p.Pro1090Ser)
c.3136C>T (p.Pro1046Ser)
 dbSNP gnomAD v4
20g.32436002C>ACA408562751ASXL1c.3290C>A (p.Pro1097His)
c.3107C>A (p.Pro1036His)
n.5643C>A
c.1869+1421C>A (n.1869+1421C>A)
c.3275C>A (p.Pro1092His)
c.3287C>A (p.Pro1096His)
c.3260C>A (p.Pro1087His)
c.3206C>A (p.Pro1069His)
c.2606C>A (p.Pro869His)
c.3554C>A (p.Pro1185His)
c.3551C>A (p.Pro1184His)
c.3470C>A (p.Pro1157His)
c.3401C>A (p.Pro1134His)
c.3269C>A (p.Pro1090His)
c.3137C>A (p.Pro1046His)
20g.32436002C=CA2360293490ASXL1c.3290C= (p.Pro1097=)
c.3107C= (p.Pro1036=)
n.5643C=
c.1869+1421C= (n.1869+1421C=)
c.3275C= (p.Pro1092=)
c.3287C= (p.Pro1096=)
c.3260C= (p.Pro1087=)
c.3206C= (p.Pro1069=)
c.2606C= (p.Pro869=)
c.3554C= (p.Pro1185=)
c.3551C= (p.Pro1184=)
c.3470C= (p.Pro1157=)
c.3401C= (p.Pro1134=)
c.3269C= (p.Pro1090=)
c.3137C= (p.Pro1046=)
20g.32436002C>GCA408562752ASXL1c.3290C>G (p.Pro1097Arg)
c.3107C>G (p.Pro1036Arg)
n.5643C>G
c.1869+1421C>G (n.1869+1421C>G)
c.3275C>G (p.Pro1092Arg)
c.3287C>G (p.Pro1096Arg)
c.3260C>G (p.Pro1087Arg)
c.3206C>G (p.Pro1069Arg)
c.2606C>G (p.Pro869Arg)
c.3554C>G (p.Pro1185Arg)
c.3551C>G (p.Pro1184Arg)
c.3470C>G (p.Pro1157Arg)
c.3401C>G (p.Pro1134Arg)
c.3269C>G (p.Pro1090Arg)
c.3137C>G (p.Pro1046Arg)
20g.32436002C>TCA408562753ASXL1c.3290C>T (p.Pro1097Leu)
c.3107C>T (p.Pro1036Leu)
n.5643C>T
c.1869+1421C>T (n.1869+1421C>T)
c.3275C>T (p.Pro1092Leu)
c.3287C>T (p.Pro1096Leu)
c.3260C>T (p.Pro1087Leu)
c.3206C>T (p.Pro1069Leu)
c.2606C>T (p.Pro869Leu)
c.3554C>T (p.Pro1185Leu)
c.3551C>T (p.Pro1184Leu)
c.3470C>T (p.Pro1157Leu)
c.3401C>T (p.Pro1134Leu)
c.3269C>T (p.Pro1090Leu)
c.3137C>T (p.Pro1046Leu)
 dbSNP
20g.32436003T>ACA510466915ASXL1c.3291T>A (p.Pro1097=)
c.3108T>A (p.Pro1036=)
n.5644T>A
c.1869+1422T>A (n.1869+1422T>A)
c.3276T>A (p.Pro1092=)
c.3288T>A (p.Pro1096=)
c.3261T>A (p.Pro1087=)
c.3207T>A (p.Pro1069=)
c.2607T>A (p.Pro869=)
c.3555T>A (p.Pro1185=)
c.3552T>A (p.Pro1184=)
c.3471T>A (p.Pro1157=)
c.3402T>A (p.Pro1134=)
c.3270T>A (p.Pro1090=)
c.3138T>A (p.Pro1046=)
20g.32436003T>CCA510466916ASXL1c.3291T>C (p.Pro1097=)
c.3108T>C (p.Pro1036=)
n.5644T>C
c.1869+1422T>C (n.1869+1422T>C)
c.3276T>C (p.Pro1092=)
c.3288T>C (p.Pro1096=)
c.3261T>C (p.Pro1087=)
c.3207T>C (p.Pro1069=)
c.2607T>C (p.Pro869=)
c.3555T>C (p.Pro1185=)
c.3552T>C (p.Pro1184=)
c.3471T>C (p.Pro1157=)
c.3402T>C (p.Pro1134=)
c.3270T>C (p.Pro1090=)
c.3138T>C (p.Pro1046=)
20g.32436003T>GCA510466919ASXL1c.3291T>G (p.Pro1097=)
c.3108T>G (p.Pro1036=)
n.5644T>G
c.1869+1422T>G (n.1869+1422T>G)
c.3276T>G (p.Pro1092=)
c.3288T>G (p.Pro1096=)
c.3261T>G (p.Pro1087=)
c.3207T>G (p.Pro1069=)
c.2607T>G (p.Pro869=)
c.3555T>G (p.Pro1185=)
c.3552T>G (p.Pro1184=)
c.3471T>G (p.Pro1157=)
c.3402T>G (p.Pro1134=)
c.3270T>G (p.Pro1090=)
c.3138T>G (p.Pro1046=)
20g.32436004G>ACA408562754ASXL1c.3292G>A (p.Gly1098Arg)
c.3109G>A (p.Gly1037Arg)
n.5645G>A
c.1869+1423G>A (n.1869+1423G>A)
c.3277G>A (p.Gly1093Arg)
c.3289G>A (p.Gly1097Arg)
c.3262G>A (p.Gly1088Arg)
c.3208G>A (p.Gly1070Arg)
c.2608G>A (p.Gly870Arg)
c.3556G>A (p.Gly1186Arg)
c.3553G>A (p.Gly1185Arg)
c.3472G>A (p.Gly1158Arg)
c.3403G>A (p.Gly1135Arg)
c.3271G>A (p.Gly1091Arg)
c.3139G>A (p.Gly1047Arg)
20g.32436004G>CCA408562755ASXL1c.3292G>C (p.Gly1098Arg)
c.3109G>C (p.Gly1037Arg)
n.5645G>C
c.1869+1423G>C (n.1869+1423G>C)
c.3277G>C (p.Gly1093Arg)
c.3289G>C (p.Gly1097Arg)
c.3262G>C (p.Gly1088Arg)
c.3208G>C (p.Gly1070Arg)
c.2608G>C (p.Gly870Arg)
c.3556G>C (p.Gly1186Arg)
c.3553G>C (p.Gly1185Arg)
c.3472G>C (p.Gly1158Arg)
c.3403G>C (p.Gly1135Arg)
c.3271G>C (p.Gly1091Arg)
c.3139G>C (p.Gly1047Arg)
20g.32436004G>TCA408562756ASXL1c.3292G>T (p.Gly1098Trp)
c.3109G>T (p.Gly1037Trp)
n.5645G>T
c.1869+1423G>T (n.1869+1423G>T)
c.3277G>T (p.Gly1093Trp)
c.3289G>T (p.Gly1097Trp)
c.3262G>T (p.Gly1088Trp)
c.3208G>T (p.Gly1070Trp)
c.2608G>T (p.Gly870Trp)
c.3556G>T (p.Gly1186Trp)
c.3553G>T (p.Gly1185Trp)
c.3472G>T (p.Gly1158Trp)
c.3403G>T (p.Gly1135Trp)
c.3271G>T (p.Gly1091Trp)
c.3139G>T (p.Gly1047Trp)
20g.32436005G>ACA408562759ASXL1c.3293G>A (p.Gly1098Glu)
c.3110G>A (p.Gly1037Glu)
n.5646G>A
c.1869+1424G>A (n.1869+1424G>A)
c.3278G>A (p.Gly1093Glu)
c.3290G>A (p.Gly1097Glu)
c.3263G>A (p.Gly1088Glu)
c.3209G>A (p.Gly1070Glu)
c.2609G>A (p.Gly870Glu)
c.3557G>A (p.Gly1186Glu)
c.3554G>A (p.Gly1185Glu)
c.3473G>A (p.Gly1158Glu)
c.3404G>A (p.Gly1135Glu)
c.3272G>A (p.Gly1091Glu)
c.3140G>A (p.Gly1047Glu)
 dbSNP
20g.32436005G>CCA408562758ASXL1c.3293G>C (p.Gly1098Ala)
c.3110G>C (p.Gly1037Ala)
n.5646G>C
c.1869+1424G>C (n.1869+1424G>C)
c.3278G>C (p.Gly1093Ala)
c.3290G>C (p.Gly1097Ala)
c.3263G>C (p.Gly1088Ala)
c.3209G>C (p.Gly1070Ala)
c.2609G>C (p.Gly870Ala)
c.3557G>C (p.Gly1186Ala)
c.3554G>C (p.Gly1185Ala)
c.3473G>C (p.Gly1158Ala)
c.3404G>C (p.Gly1135Ala)
c.3272G>C (p.Gly1091Ala)
c.3140G>C (p.Gly1047Ala)
20g.32436005G>TCA408562757ASXL1c.3293G>T (p.Gly1098Val)
c.3110G>T (p.Gly1037Val)
n.5646G>T
c.1869+1424G>T (n.1869+1424G>T)
c.3278G>T (p.Gly1093Val)
c.3290G>T (p.Gly1097Val)
c.3263G>T (p.Gly1088Val)
c.3209G>T (p.Gly1070Val)
c.2609G>T (p.Gly870Val)
c.3557G>T (p.Gly1186Val)
c.3554G>T (p.Gly1185Val)
c.3473G>T (p.Gly1158Val)
c.3404G>T (p.Gly1135Val)
c.3272G>T (p.Gly1091Val)
c.3140G>T (p.Gly1047Val)
20g.32436006G>ACA510466935ASXL1c.3294G>A (p.Gly1098=)
c.3111G>A (p.Gly1037=)
n.5647G>A
c.1869+1425G>A (n.1869+1425G>A)
c.3279G>A (p.Gly1093=)
c.3291G>A (p.Gly1097=)
c.3264G>A (p.Gly1088=)
c.3210G>A (p.Gly1070=)
c.2610G>A (p.Gly870=)
c.3558G>A (p.Gly1186=)
c.3555G>A (p.Gly1185=)
c.3474G>A (p.Gly1158=)
c.3405G>A (p.Gly1135=)
c.3273G>A (p.Gly1091=)
c.3141G>A (p.Gly1047=)
 dbSNP
20g.32436006G>CCA510466938ASXL1c.3294G>C (p.Gly1098=)
c.3111G>C (p.Gly1037=)
n.5647G>C
c.1869+1425G>C (n.1869+1425G>C)
c.3279G>C (p.Gly1093=)
c.3291G>C (p.Gly1097=)
c.3264G>C (p.Gly1088=)
c.3210G>C (p.Gly1070=)
c.2610G>C (p.Gly870=)
c.3558G>C (p.Gly1186=)
c.3555G>C (p.Gly1185=)
c.3474G>C (p.Gly1158=)
c.3405G>C (p.Gly1135=)
c.3273G>C (p.Gly1091=)
c.3141G>C (p.Gly1047=)
20g.32436006G>TCA510466937ASXL1c.3294G>T (p.Gly1098=)
c.3111G>T (p.Gly1037=)
n.5647G>T
c.1869+1425G>T (n.1869+1425G>T)
c.3279G>T (p.Gly1093=)
c.3291G>T (p.Gly1097=)
c.3264G>T (p.Gly1088=)
c.3210G>T (p.Gly1070=)
c.2610G>T (p.Gly870=)
c.3558G>T (p.Gly1186=)
c.3555G>T (p.Gly1185=)
c.3474G>T (p.Gly1158=)
c.3405G>T (p.Gly1135=)
c.3273G>T (p.Gly1091=)
c.3141G>T (p.Gly1047=)
20g.32436007T>ACA408562760ASXL1c.3295T>A (p.Ser1099Thr)
c.3112T>A (p.Ser1038Thr)
n.5648T>A
c.1869+1426T>A (n.1869+1426T>A)
c.3280T>A (p.Ser1094Thr)
c.3292T>A (p.Ser1098Thr)
c.3265T>A (p.Ser1089Thr)
c.3211T>A (p.Ser1071Thr)
c.2611T>A (p.Ser871Thr)
c.3559T>A (p.Ser1187Thr)
c.3556T>A (p.Ser1186Thr)
c.3475T>A (p.Ser1159Thr)
c.3406T>A (p.Ser1136Thr)
c.3274T>A (p.Ser1092Thr)
c.3142T>A (p.Ser1048Thr)
20g.32436007T>CCA408562761ASXL1c.3295T>C (p.Ser1099Pro)
c.3112T>C (p.Ser1038Pro)
n.5648T>C
c.1869+1426T>C (n.1869+1426T>C)
c.3280T>C (p.Ser1094Pro)
c.3292T>C (p.Ser1098Pro)
c.3265T>C (p.Ser1089Pro)
c.3211T>C (p.Ser1071Pro)
c.2611T>C (p.Ser871Pro)
c.3559T>C (p.Ser1187Pro)
c.3556T>C (p.Ser1186Pro)
c.3475T>C (p.Ser1159Pro)
c.3406T>C (p.Ser1136Pro)
c.3274T>C (p.Ser1092Pro)
c.3142T>C (p.Ser1048Pro)
20g.32436007T>GCA408562762ASXL1c.3295T>G (p.Ser1099Ala)
c.3112T>G (p.Ser1038Ala)
n.5648T>G
c.1869+1426T>G (n.1869+1426T>G)
c.3280T>G (p.Ser1094Ala)
c.3292T>G (p.Ser1098Ala)
c.3265T>G (p.Ser1089Ala)
c.3211T>G (p.Ser1071Ala)
c.2611T>G (p.Ser871Ala)
c.3559T>G (p.Ser1187Ala)
c.3556T>G (p.Ser1186Ala)
c.3475T>G (p.Ser1159Ala)
c.3406T>G (p.Ser1136Ala)
c.3274T>G (p.Ser1092Ala)
c.3142T>G (p.Ser1048Ala)
20g.32436008C>ACA408562763ASXL1c.3296C>A (p.Ser1099Tyr)
c.3113C>A (p.Ser1038Tyr)
n.5649C>A
c.1869+1427C>A (n.1869+1427C>A)
c.3281C>A (p.Ser1094Tyr)
c.3293C>A (p.Ser1098Tyr)
c.3266C>A (p.Ser1089Tyr)
c.3212C>A (p.Ser1071Tyr)
c.2612C>A (p.Ser871Tyr)
c.3560C>A (p.Ser1187Tyr)
c.3557C>A (p.Ser1186Tyr)
c.3476C>A (p.Ser1159Tyr)
c.3407C>A (p.Ser1136Tyr)
c.3275C>A (p.Ser1092Tyr)
c.3143C>A (p.Ser1048Tyr)
20g.32436008C>GCA408562764ASXL1c.3296C>G (p.Ser1099Cys)
c.3113C>G (p.Ser1038Cys)
n.5649C>G
c.1869+1427C>G (n.1869+1427C>G)
c.3281C>G (p.Ser1094Cys)
c.3293C>G (p.Ser1098Cys)
c.3266C>G (p.Ser1089Cys)
c.3212C>G (p.Ser1071Cys)
c.2612C>G (p.Ser871Cys)
c.3560C>G (p.Ser1187Cys)
c.3557C>G (p.Ser1186Cys)
c.3476C>G (p.Ser1159Cys)
c.3407C>G (p.Ser1136Cys)
c.3275C>G (p.Ser1092Cys)
c.3143C>G (p.Ser1048Cys)
 gnomAD v4
20g.32436008C>TCA408562765ASXL1c.3296C>T (p.Ser1099Phe)
c.3113C>T (p.Ser1038Phe)
n.5649C>T
c.1869+1427C>T (n.1869+1427C>T)
c.3281C>T (p.Ser1094Phe)
c.3293C>T (p.Ser1098Phe)
c.3266C>T (p.Ser1089Phe)
c.3212C>T (p.Ser1071Phe)
c.2612C>T (p.Ser871Phe)
c.3560C>T (p.Ser1187Phe)
c.3557C>T (p.Ser1186Phe)
c.3476C>T (p.Ser1159Phe)
c.3407C>T (p.Ser1136Phe)
c.3275C>T (p.Ser1092Phe)
c.3143C>T (p.Ser1048Phe)
 gnomAD v4
20g.32436009C>ACA510466961ASXL1c.3297C>A (p.Ser1099=)
c.3114C>A (p.Ser1038=)
n.5650C>A
c.1869+1428C>A (n.1869+1428C>A)
c.3282C>A (p.Ser1094=)
c.3294C>A (p.Ser1098=)
c.3267C>A (p.Ser1089=)
c.3213C>A (p.Ser1071=)
c.2613C>A (p.Ser871=)
c.3561C>A (p.Ser1187=)
c.3558C>A (p.Ser1186=)
c.3477C>A (p.Ser1159=)
c.3408C>A (p.Ser1136=)
c.3276C>A (p.Ser1092=)
c.3144C>A (p.Ser1048=)
20g.32436009C=CA2360293491ASXL1c.3297C= (p.Ser1099=)
c.3114C= (p.Ser1038=)
n.5650C=
c.1869+1428C= (n.1869+1428C=)
c.3282C= (p.Ser1094=)
c.3294C= (p.Ser1098=)
c.3267C= (p.Ser1089=)
c.3213C= (p.Ser1071=)
c.2613C= (p.Ser871=)
c.3561C= (p.Ser1187=)
c.3558C= (p.Ser1186=)
c.3477C= (p.Ser1159=)
c.3408C= (p.Ser1136=)
c.3276C= (p.Ser1092=)
c.3144C= (p.Ser1048=)
20g.32436009C>GCA510466963ASXL1c.3297C>G (p.Ser1099=)
c.3114C>G (p.Ser1038=)
n.5650C>G
c.1869+1428C>G (n.1869+1428C>G)
c.3282C>G (p.Ser1094=)
c.3294C>G (p.Ser1098=)
c.3267C>G (p.Ser1089=)
c.3213C>G (p.Ser1071=)
c.2613C>G (p.Ser871=)
c.3561C>G (p.Ser1187=)
c.3558C>G (p.Ser1186=)
c.3477C>G (p.Ser1159=)
c.3408C>G (p.Ser1136=)
c.3276C>G (p.Ser1092=)
c.3144C>G (p.Ser1048=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436009C>TCA510466964ASXL1c.3297C>T (p.Ser1099=)
c.3114C>T (p.Ser1038=)
n.5650C>T
c.1869+1428C>T (n.1869+1428C>T)
c.3282C>T (p.Ser1094=)
c.3294C>T (p.Ser1098=)
c.3267C>T (p.Ser1089=)
c.3213C>T (p.Ser1071=)
c.2613C>T (p.Ser871=)
c.3561C>T (p.Ser1187=)
c.3558C>T (p.Ser1186=)
c.3477C>T (p.Ser1159=)
c.3408C>T (p.Ser1136=)
c.3276C>T (p.Ser1092=)
c.3144C>T (p.Ser1048=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436010T>ACA408562766ASXL1c.3298T>A (p.Ser1100Thr)
c.3115T>A (p.Ser1039Thr)
n.5651T>A
c.1869+1429T>A (n.1869+1429T>A)
c.3283T>A (p.Ser1095Thr)
c.3295T>A (p.Ser1099Thr)
c.3268T>A (p.Ser1090Thr)
c.3214T>A (p.Ser1072Thr)
c.2614T>A (p.Ser872Thr)
c.3562T>A (p.Ser1188Thr)
c.3559T>A (p.Ser1187Thr)
c.3478T>A (p.Ser1160Thr)
c.3409T>A (p.Ser1137Thr)
c.3277T>A (p.Ser1093Thr)
c.3145T>A (p.Ser1049Thr)
20g.32436010T>CCA408562767ASXL1c.3298T>C (p.Ser1100Pro)
c.3115T>C (p.Ser1039Pro)
n.5651T>C
c.1869+1429T>C (n.1869+1429T>C)
c.3283T>C (p.Ser1095Pro)
c.3295T>C (p.Ser1099Pro)
c.3268T>C (p.Ser1090Pro)
c.3214T>C (p.Ser1072Pro)
c.2614T>C (p.Ser872Pro)
c.3562T>C (p.Ser1188Pro)
c.3559T>C (p.Ser1187Pro)
c.3478T>C (p.Ser1160Pro)
c.3409T>C (p.Ser1137Pro)
c.3277T>C (p.Ser1093Pro)
c.3145T>C (p.Ser1049Pro)
 dbSNP
20g.32436010T>GCA408562768ASXL1c.3298T>G (p.Ser1100Ala)
c.3115T>G (p.Ser1039Ala)
n.5651T>G
c.1869+1429T>G (n.1869+1429T>G)
c.3283T>G (p.Ser1095Ala)
c.3295T>G (p.Ser1099Ala)
c.3268T>G (p.Ser1090Ala)
c.3214T>G (p.Ser1072Ala)
c.2614T>G (p.Ser872Ala)
c.3562T>G (p.Ser1188Ala)
c.3559T>G (p.Ser1187Ala)
c.3478T>G (p.Ser1160Ala)
c.3409T>G (p.Ser1137Ala)
c.3277T>G (p.Ser1093Ala)
c.3145T>G (p.Ser1049Ala)
20g.32436010T=CA2360293492ASXL1c.3298T= (p.Ser1100=)
c.3115T= (p.Ser1039=)
n.5651T=
c.1869+1429T= (n.1869+1429T=)
c.3283T= (p.Ser1095=)
c.3295T= (p.Ser1099=)
c.3268T= (p.Ser1090=)
c.3214T= (p.Ser1072=)
c.2614T= (p.Ser872=)
c.3562T= (p.Ser1188=)
c.3559T= (p.Ser1187=)
c.3478T= (p.Ser1160=)
c.3409T= (p.Ser1137=)
c.3277T= (p.Ser1093=)
c.3145T= (p.Ser1049=)
20g.32436011C>ACA408562769ASXL1c.3299C>A (p.Ser1100Ter)
c.3116C>A (p.Ser1039Ter)
n.5652C>A
c.1869+1430C>A (n.1869+1430C>A)
c.3284C>A (p.Ser1095Ter)
c.3296C>A (p.Ser1099Ter)
c.3269C>A (p.Ser1090Ter)
c.3215C>A (p.Ser1072Ter)
c.2615C>A (p.Ser872Ter)
c.3563C>A (p.Ser1188Ter)
c.3560C>A (p.Ser1187Ter)
c.3479C>A (p.Ser1160Ter)
c.3410C>A (p.Ser1137Ter)
c.3278C>A (p.Ser1093Ter)
c.3146C>A (p.Ser1049Ter)
 COSMIC COSMIC
20g.32436011C>GCA408562770ASXL1c.3299C>G (p.Ser1100Ter)
c.3116C>G (p.Ser1039Ter)
n.5652C>G
c.1869+1430C>G (n.1869+1430C>G)
c.3284C>G (p.Ser1095Ter)
c.3296C>G (p.Ser1099Ter)
c.3269C>G (p.Ser1090Ter)
c.3215C>G (p.Ser1072Ter)
c.2615C>G (p.Ser872Ter)
c.3563C>G (p.Ser1188Ter)
c.3560C>G (p.Ser1187Ter)
c.3479C>G (p.Ser1160Ter)
c.3410C>G (p.Ser1137Ter)
c.3278C>G (p.Ser1093Ter)
c.3146C>G (p.Ser1049Ter)
20g.32436011C>TCA408562771ASXL1c.3299C>T (p.Ser1100Leu)
c.3116C>T (p.Ser1039Leu)
n.5652C>T
c.1869+1430C>T (n.1869+1430C>T)
c.3284C>T (p.Ser1095Leu)
c.3296C>T (p.Ser1099Leu)
c.3269C>T (p.Ser1090Leu)
c.3215C>T (p.Ser1072Leu)
c.2615C>T (p.Ser872Leu)
c.3563C>T (p.Ser1188Leu)
c.3560C>T (p.Ser1187Leu)
c.3479C>T (p.Ser1160Leu)
c.3410C>T (p.Ser1137Leu)
c.3278C>T (p.Ser1093Leu)
c.3146C>T (p.Ser1049Leu)
20g.32436012A>CCA510466973ASXL1c.3300A>C (p.Ser1100=)
c.3117A>C (p.Ser1039=)
n.5653A>C
c.1869+1431A>C (n.1869+1431A>C)
c.3285A>C (p.Ser1095=)
c.3297A>C (p.Ser1099=)
c.3270A>C (p.Ser1090=)
c.3216A>C (p.Ser1072=)
c.2616A>C (p.Ser872=)
c.3564A>C (p.Ser1188=)
c.3561A>C (p.Ser1187=)
c.3480A>C (p.Ser1160=)
c.3411A>C (p.Ser1137=)
c.3279A>C (p.Ser1093=)
c.3147A>C (p.Ser1049=)
20g.32436012A>GCA510466976ASXL1c.3300A>G (p.Ser1100=)
c.3117A>G (p.Ser1039=)
n.5653A>G
c.1869+1431A>G (n.1869+1431A>G)
c.3285A>G (p.Ser1095=)
c.3297A>G (p.Ser1099=)
c.3270A>G (p.Ser1090=)
c.3216A>G (p.Ser1072=)
c.2616A>G (p.Ser872=)
c.3564A>G (p.Ser1188=)
c.3561A>G (p.Ser1187=)
c.3480A>G (p.Ser1160=)
c.3411A>G (p.Ser1137=)
c.3279A>G (p.Ser1093=)
c.3147A>G (p.Ser1049=)
20g.32436012A>TCA510466974ASXL1c.3300A>T (p.Ser1100=)
c.3117A>T (p.Ser1039=)
n.5653A>T
c.1869+1431A>T (n.1869+1431A>T)
c.3285A>T (p.Ser1095=)
c.3297A>T (p.Ser1099=)
c.3270A>T (p.Ser1090=)
c.3216A>T (p.Ser1072=)
c.2616A>T (p.Ser872=)
c.3564A>T (p.Ser1188=)
c.3561A>T (p.Ser1187=)
c.3480A>T (p.Ser1160=)
c.3411A>T (p.Ser1137=)
c.3279A>T (p.Ser1093=)
c.3147A>T (p.Ser1049=)
20g.32436013G>ACA408562774ASXL1c.3301G>A (p.Val1101Met)
c.3118G>A (p.Val1040Met)
n.5654G>A
c.1869+1432G>A (n.1869+1432G>A)
c.3286G>A (p.Val1096Met)
c.3298G>A (p.Val1100Met)
c.3271G>A (p.Val1091Met)
c.3217G>A (p.Val1073Met)
c.2617G>A (p.Val873Met)
c.3565G>A (p.Val1189Met)
c.3562G>A (p.Val1188Met)
c.3481G>A (p.Val1161Met)
c.3412G>A (p.Val1138Met)
c.3280G>A (p.Val1094Met)
c.3148G>A (p.Val1050Met)
 dbSNP gnomAD v3 gnomAD v4
20g.32436013G>CCA408562773ASXL1c.3301G>C (p.Val1101Leu)
c.3118G>C (p.Val1040Leu)
n.5654G>C
c.1869+1432G>C (n.1869+1432G>C)
c.3286G>C (p.Val1096Leu)
c.3298G>C (p.Val1100Leu)
c.3271G>C (p.Val1091Leu)
c.3217G>C (p.Val1073Leu)
c.2617G>C (p.Val873Leu)
c.3565G>C (p.Val1189Leu)
c.3562G>C (p.Val1188Leu)
c.3481G>C (p.Val1161Leu)
c.3412G>C (p.Val1138Leu)
c.3280G>C (p.Val1094Leu)
c.3148G>C (p.Val1050Leu)
20g.32436013G=CA2360293493ASXL1c.3301G= (p.Val1101=)
c.3118G= (p.Val1040=)
n.5654G=
c.1869+1432G= (n.1869+1432G=)
c.3286G= (p.Val1096=)
c.3298G= (p.Val1100=)
c.3271G= (p.Val1091=)
c.3217G= (p.Val1073=)
c.2617G= (p.Val873=)
c.3565G= (p.Val1189=)
c.3562G= (p.Val1188=)
c.3481G= (p.Val1161=)
c.3412G= (p.Val1138=)
c.3280G= (p.Val1094=)
c.3148G= (p.Val1050=)
20g.32436013G>TCA408562772ASXL1c.3301G>T (p.Val1101Leu)
c.3118G>T (p.Val1040Leu)
n.5654G>T
c.1869+1432G>T (n.1869+1432G>T)
c.3286G>T (p.Val1096Leu)
c.3298G>T (p.Val1100Leu)
c.3271G>T (p.Val1091Leu)
c.3217G>T (p.Val1073Leu)
c.2617G>T (p.Val873Leu)
c.3565G>T (p.Val1189Leu)
c.3562G>T (p.Val1188Leu)
c.3481G>T (p.Val1161Leu)
c.3412G>T (p.Val1138Leu)
c.3280G>T (p.Val1094Leu)
c.3148G>T (p.Val1050Leu)
20g.32436014_32436016delCA2816151276ASXL1c.3302_3304del (p.Val1101del)
c.3119_3121del (p.Val1040del)
n.5655_5657del
c.1869+1433_1869+1435del (n.1869+1433_1869+1435del)
c.3287_3289del (p.Val1096del)
c.3299_3301del (p.Val1100del)
c.3272_3274del (p.Val1091del)
c.3218_3220del (p.Val1073del)
c.2618_2620del (p.Val873del)
c.3566_3568del (p.Val1189del)
c.3563_3565del (p.Val1188del)
c.3482_3484del (p.Val1161del)
c.3413_3415del (p.Val1138del)
c.3281_3283del (p.Val1094del)
c.3149_3151del (p.Val1050del)
20g.32436014T>ACA408562775ASXL1c.3302T>A (p.Val1101Glu)
c.3119T>A (p.Val1040Glu)
n.5655T>A
c.1869+1433T>A (n.1869+1433T>A)
c.3287T>A (p.Val1096Glu)
c.3299T>A (p.Val1100Glu)
c.3272T>A (p.Val1091Glu)
c.3218T>A (p.Val1073Glu)
c.2618T>A (p.Val873Glu)
c.3566T>A (p.Val1189Glu)
c.3563T>A (p.Val1188Glu)
c.3482T>A (p.Val1161Glu)
c.3413T>A (p.Val1138Glu)
c.3281T>A (p.Val1094Glu)
c.3149T>A (p.Val1050Glu)
 ClinVar dbSNP
20g.32436014T>CCA408562777ASXL1c.3302T>C (p.Val1101Ala)
c.3119T>C (p.Val1040Ala)
n.5655T>C
c.1869+1433T>C (n.1869+1433T>C)
c.3287T>C (p.Val1096Ala)
c.3299T>C (p.Val1100Ala)
c.3272T>C (p.Val1091Ala)
c.3218T>C (p.Val1073Ala)
c.2618T>C (p.Val873Ala)
c.3566T>C (p.Val1189Ala)
c.3563T>C (p.Val1188Ala)
c.3482T>C (p.Val1161Ala)
c.3413T>C (p.Val1138Ala)
c.3281T>C (p.Val1094Ala)
c.3149T>C (p.Val1050Ala)
20g.32436014T>GCA408562776ASXL1c.3302T>G (p.Val1101Gly)
c.3119T>G (p.Val1040Gly)
n.5655T>G
c.1869+1433T>G (n.1869+1433T>G)
c.3287T>G (p.Val1096Gly)
c.3299T>G (p.Val1100Gly)
c.3272T>G (p.Val1091Gly)
c.3218T>G (p.Val1073Gly)
c.2618T>G (p.Val873Gly)
c.3566T>G (p.Val1189Gly)
c.3563T>G (p.Val1188Gly)
c.3482T>G (p.Val1161Gly)
c.3413T>G (p.Val1138Gly)
c.3281T>G (p.Val1094Gly)
c.3149T>G (p.Val1050Gly)
20g.32436015G>ACA510466979ASXL1c.3303G>A (p.Val1101=)
c.3120G>A (p.Val1040=)
n.5656G>A
c.1869+1434G>A (n.1869+1434G>A)
c.3288G>A (p.Val1096=)
c.3300G>A (p.Val1100=)
c.3273G>A (p.Val1091=)
c.3219G>A (p.Val1073=)
c.2619G>A (p.Val873=)
c.3567G>A (p.Val1189=)
c.3564G>A (p.Val1188=)
c.3483G>A (p.Val1161=)
c.3414G>A (p.Val1138=)
c.3282G>A (p.Val1094=)
c.3150G>A (p.Val1050=)
20g.32436015G>CCA510466980ASXL1c.3303G>C (p.Val1101=)
c.3120G>C (p.Val1040=)
n.5656G>C
c.1869+1434G>C (n.1869+1434G>C)
c.3288G>C (p.Val1096=)
c.3300G>C (p.Val1100=)
c.3273G>C (p.Val1091=)
c.3219G>C (p.Val1073=)
c.2619G>C (p.Val873=)
c.3567G>C (p.Val1189=)
c.3564G>C (p.Val1188=)
c.3483G>C (p.Val1161=)
c.3414G>C (p.Val1138=)
c.3282G>C (p.Val1094=)
c.3150G>C (p.Val1050=)
20g.32436015G>TCA510466981ASXL1c.3303G>T (p.Val1101=)
c.3120G>T (p.Val1040=)
n.5656G>T
c.1869+1434G>T (n.1869+1434G>T)
c.3288G>T (p.Val1096=)
c.3300G>T (p.Val1100=)
c.3273G>T (p.Val1091=)
c.3219G>T (p.Val1073=)
c.2619G>T (p.Val873=)
c.3567G>T (p.Val1189=)
c.3564G>T (p.Val1188=)
c.3483G>T (p.Val1161=)
c.3414G>T (p.Val1138=)
c.3282G>T (p.Val1094=)
c.3150G>T (p.Val1050=)
20g.32436016G>ACA408562778ASXL1c.3304G>A (p.Glu1102Lys)
c.3121G>A (p.Glu1041Lys)
n.5657G>A
c.1869+1435G>A (n.1869+1435G>A)
c.3289G>A (p.Glu1097Lys)
c.3301G>A (p.Glu1101Lys)
c.3274G>A (p.Glu1092Lys)
c.3220G>A (p.Glu1074Lys)
c.2620G>A (p.Glu874Lys)
c.3568G>A (p.Glu1190Lys)
c.3565G>A (p.Glu1189Lys)
c.3484G>A (p.Glu1162Lys)
c.3415G>A (p.Glu1139Lys)
c.3283G>A (p.Glu1095Lys)
c.3151G>A (p.Glu1051Lys)
 dbSNP
20g.32436016G>CCA408562779ASXL1c.3304G>C (p.Glu1102Gln)
c.3121G>C (p.Glu1041Gln)
n.5657G>C
c.1869+1435G>C (n.1869+1435G>C)
c.3289G>C (p.Glu1097Gln)
c.3301G>C (p.Glu1101Gln)
c.3274G>C (p.Glu1092Gln)
c.3220G>C (p.Glu1074Gln)
c.2620G>C (p.Glu874Gln)
c.3568G>C (p.Glu1190Gln)
c.3565G>C (p.Glu1189Gln)
c.3484G>C (p.Glu1162Gln)
c.3415G>C (p.Glu1139Gln)
c.3283G>C (p.Glu1095Gln)
c.3151G>C (p.Glu1051Gln)
 dbSNP
20g.32436016G>TCA408562780ASXL1c.3304G>T (p.Glu1102Ter)
c.3121G>T (p.Glu1041Ter)
n.5657G>T
c.1869+1435G>T (n.1869+1435G>T)
c.3289G>T (p.Glu1097Ter)
c.3301G>T (p.Glu1101Ter)
c.3274G>T (p.Glu1092Ter)
c.3220G>T (p.Glu1074Ter)
c.2620G>T (p.Glu874Ter)
c.3568G>T (p.Glu1190Ter)
c.3565G>T (p.Glu1189Ter)
c.3484G>T (p.Glu1162Ter)
c.3415G>T (p.Glu1139Ter)
c.3283G>T (p.Glu1095Ter)
c.3151G>T (p.Glu1051Ter)
20g.32436017A>CCA408562781ASXL1c.3305A>C (p.Glu1102Ala)
c.3122A>C (p.Glu1041Ala)
n.5658A>C
c.1869+1436A>C (n.1869+1436A>C)
c.3290A>C (p.Glu1097Ala)
c.3302A>C (p.Glu1101Ala)
c.3275A>C (p.Glu1092Ala)
c.3221A>C (p.Glu1074Ala)
c.2621A>C (p.Glu874Ala)
c.3569A>C (p.Glu1190Ala)
c.3566A>C (p.Glu1189Ala)
c.3485A>C (p.Glu1162Ala)
c.3416A>C (p.Glu1139Ala)
c.3284A>C (p.Glu1095Ala)
c.3152A>C (p.Glu1051Ala)
20g.32436017A>GCA408562782ASXL1c.3305A>G (p.Glu1102Gly)
c.3122A>G (p.Glu1041Gly)
n.5658A>G
c.1869+1436A>G (n.1869+1436A>G)
c.3290A>G (p.Glu1097Gly)
c.3302A>G (p.Glu1101Gly)
c.3275A>G (p.Glu1092Gly)
c.3221A>G (p.Glu1074Gly)
c.2621A>G (p.Glu874Gly)
c.3569A>G (p.Glu1190Gly)
c.3566A>G (p.Glu1189Gly)
c.3485A>G (p.Glu1162Gly)
c.3416A>G (p.Glu1139Gly)
c.3284A>G (p.Glu1095Gly)
c.3152A>G (p.Glu1051Gly)
 ClinVar dbSNP
20g.32436017A>TCA408562783ASXL1c.3305A>T (p.Glu1102Val)
c.3122A>T (p.Glu1041Val)
n.5658A>T
c.1869+1436A>T (n.1869+1436A>T)
c.3290A>T (p.Glu1097Val)
c.3302A>T (p.Glu1101Val)
c.3275A>T (p.Glu1092Val)
c.3221A>T (p.Glu1074Val)
c.2621A>T (p.Glu874Val)
c.3569A>T (p.Glu1190Val)
c.3566A>T (p.Glu1189Val)
c.3485A>T (p.Glu1162Val)
c.3416A>T (p.Glu1139Val)
c.3284A>T (p.Glu1095Val)
c.3152A>T (p.Glu1051Val)
20g.32436018G>ACA510466983ASXL1c.3306G>A (p.Glu1102=)
c.3123G>A (p.Glu1041=)
n.5659G>A
c.1869+1437G>A (n.1869+1437G>A)
c.3291G>A (p.Glu1097=)
c.3303G>A (p.Glu1101=)
c.3276G>A (p.Glu1092=)
c.3222G>A (p.Glu1074=)
c.2622G>A (p.Glu874=)
c.3570G>A (p.Glu1190=)
c.3567G>A (p.Glu1189=)
c.3486G>A (p.Glu1162=)
c.3417G>A (p.Glu1139=)
c.3285G>A (p.Glu1095=)
c.3153G>A (p.Glu1051=)
20g.32436018G>CCA408562784ASXL1c.3306G>C (p.Glu1102Asp)
c.3123G>C (p.Glu1041Asp)
n.5659G>C
c.1869+1437G>C (n.1869+1437G>C)
c.3291G>C (p.Glu1097Asp)
c.3303G>C (p.Glu1101Asp)
c.3276G>C (p.Glu1092Asp)
c.3222G>C (p.Glu1074Asp)
c.2622G>C (p.Glu874Asp)
c.3570G>C (p.Glu1190Asp)
c.3567G>C (p.Glu1189Asp)
c.3486G>C (p.Glu1162Asp)
c.3417G>C (p.Glu1139Asp)
c.3285G>C (p.Glu1095Asp)
c.3153G>C (p.Glu1051Asp)
 COSMIC
20g.32436018G=CA2360293494ASXL1c.3306G= (p.Glu1102=)
c.3123G= (p.Glu1041=)
n.5659G=
c.1869+1437G= (n.1869+1437G=)
c.3291G= (p.Glu1097=)
c.3303G= (p.Glu1101=)
c.3276G= (p.Glu1092=)
c.3222G= (p.Glu1074=)
c.2622G= (p.Glu874=)
c.3570G= (p.Glu1190=)
c.3567G= (p.Glu1189=)
c.3486G= (p.Glu1162=)
c.3417G= (p.Glu1139=)
c.3285G= (p.Glu1095=)
c.3153G= (p.Glu1051=)
20g.32436018G>TCA157038ASXL1c.3306G>T (p.Glu1102Asp)
c.3123G>T (p.Glu1041Asp)
n.5659G>T
c.1869+1437G>T (n.1869+1437G>T)
c.3291G>T (p.Glu1097Asp)
c.3303G>T (p.Glu1101Asp)
c.3276G>T (p.Glu1092Asp)
c.3222G>T (p.Glu1074Asp)
c.2622G>T (p.Glu874Asp)
c.3570G>T (p.Glu1190Asp)
c.3567G>T (p.Glu1189Asp)
c.3486G>T (p.Glu1162Asp)
c.3417G>T (p.Glu1139Asp)
c.3285G>T (p.Glu1095Asp)
c.3153G>T (p.Glu1051Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436019G>ACA408562785ASXL1c.3307G>A (p.Ala1103Thr)
c.3124G>A (p.Ala1042Thr)
n.5660G>A
c.1869+1438G>A (n.1869+1438G>A)
c.3292G>A (p.Ala1098Thr)
c.3304G>A (p.Ala1102Thr)
c.3277G>A (p.Ala1093Thr)
c.3223G>A (p.Ala1075Thr)
c.2623G>A (p.Ala875Thr)
c.3571G>A (p.Ala1191Thr)
c.3568G>A (p.Ala1190Thr)
c.3487G>A (p.Ala1163Thr)
c.3418G>A (p.Ala1140Thr)
c.3286G>A (p.Ala1096Thr)
c.3154G>A (p.Ala1052Thr)
20g.32436019G>CCA408562786ASXL1c.3307G>C (p.Ala1103Pro)
c.3124G>C (p.Ala1042Pro)
n.5660G>C
c.1869+1438G>C (n.1869+1438G>C)
c.3292G>C (p.Ala1098Pro)
c.3304G>C (p.Ala1102Pro)
c.3277G>C (p.Ala1093Pro)
c.3223G>C (p.Ala1075Pro)
c.2623G>C (p.Ala875Pro)
c.3571G>C (p.Ala1191Pro)
c.3568G>C (p.Ala1190Pro)
c.3487G>C (p.Ala1163Pro)
c.3418G>C (p.Ala1140Pro)
c.3286G>C (p.Ala1096Pro)
c.3154G>C (p.Ala1052Pro)
20g.32436019G>TCA408562787ASXL1c.3307G>T (p.Ala1103Ser)
c.3124G>T (p.Ala1042Ser)
n.5660G>T
c.1869+1438G>T (n.1869+1438G>T)
c.3292G>T (p.Ala1098Ser)
c.3304G>T (p.Ala1102Ser)
c.3277G>T (p.Ala1093Ser)
c.3223G>T (p.Ala1075Ser)
c.2623G>T (p.Ala875Ser)
c.3571G>T (p.Ala1191Ser)
c.3568G>T (p.Ala1190Ser)
c.3487G>T (p.Ala1163Ser)
c.3418G>T (p.Ala1140Ser)
c.3286G>T (p.Ala1096Ser)
c.3154G>T (p.Ala1052Ser)
20g.32436020C>ACA408562790ASXL1c.3308C>A (p.Ala1103Asp)
c.3125C>A (p.Ala1042Asp)
n.5661C>A
c.1869+1439C>A (n.1869+1439C>A)
c.3293C>A (p.Ala1098Asp)
c.3305C>A (p.Ala1102Asp)
c.3278C>A (p.Ala1093Asp)
c.3224C>A (p.Ala1075Asp)
c.2624C>A (p.Ala875Asp)
c.3572C>A (p.Ala1191Asp)
c.3569C>A (p.Ala1190Asp)
c.3488C>A (p.Ala1163Asp)
c.3419C>A (p.Ala1140Asp)
c.3287C>A (p.Ala1096Asp)
c.3155C>A (p.Ala1052Asp)
20g.32436020C>GCA408562789ASXL1c.3308C>G (p.Ala1103Gly)
c.3125C>G (p.Ala1042Gly)
n.5661C>G
c.1869+1439C>G (n.1869+1439C>G)
c.3293C>G (p.Ala1098Gly)
c.3305C>G (p.Ala1102Gly)
c.3278C>G (p.Ala1093Gly)
c.3224C>G (p.Ala1075Gly)
c.2624C>G (p.Ala875Gly)
c.3572C>G (p.Ala1191Gly)
c.3569C>G (p.Ala1190Gly)
c.3488C>G (p.Ala1163Gly)
c.3419C>G (p.Ala1140Gly)
c.3287C>G (p.Ala1096Gly)
c.3155C>G (p.Ala1052Gly)
 dbSNP
20g.32436020C>TCA408562788ASXL1c.3308C>T (p.Ala1103Val)
c.3125C>T (p.Ala1042Val)
n.5661C>T
c.1869+1439C>T (n.1869+1439C>T)
c.3293C>T (p.Ala1098Val)
c.3305C>T (p.Ala1102Val)
c.3278C>T (p.Ala1093Val)
c.3224C>T (p.Ala1075Val)
c.2624C>T (p.Ala875Val)
c.3572C>T (p.Ala1191Val)
c.3569C>T (p.Ala1190Val)
c.3488C>T (p.Ala1163Val)
c.3419C>T (p.Ala1140Val)
c.3287C>T (p.Ala1096Val)
c.3155C>T (p.Ala1052Val)
 dbSNP
20g.32436020_32436025delCA2652401180ASXL1c.3308_3313del (p.Ala1103_Asn1105delinsAsp)
c.3125_3130del (p.Ala1042_Asn1044delinsAsp)
n.5661_5666del
c.1869+1439_1869+1444del (n.1869+1439_1869+1444del)
c.3293_3298del (p.Ala1098_Asn1100delinsAsp)
c.3305_3310del (p.Ala1102_Asn1104delinsAsp)
c.3278_3283del (p.Ala1093_Asn1095delinsAsp)
c.3224_3229del (p.Ala1075_Asn1077delinsAsp)
c.2624_2629del (p.Ala875_Asn877delinsAsp)
c.3572_3577del (p.Ala1191_Asn1193delinsAsp)
c.3569_3574del (p.Ala1190_Asn1192delinsAsp)
c.3488_3493del (p.Ala1163_Asn1165delinsAsp)
c.3419_3424del (p.Ala1140_Asn1142delinsAsp)
c.3287_3292del (p.Ala1096_Asn1098delinsAsp)
c.3155_3160del (p.Ala1052_Asn1054delinsAsp)
 gnomAD v4
20g.32436021C>ACA510466999ASXL1c.3309C>A (p.Ala1103=)
c.3126C>A (p.Ala1042=)
n.5662C>A
c.1869+1440C>A (n.1869+1440C>A)
c.3294C>A (p.Ala1098=)
c.3306C>A (p.Ala1102=)
c.3279C>A (p.Ala1093=)
c.3225C>A (p.Ala1075=)
c.2625C>A (p.Ala875=)
c.3573C>A (p.Ala1191=)
c.3570C>A (p.Ala1190=)
c.3489C>A (p.Ala1163=)
c.3420C>A (p.Ala1140=)
c.3288C>A (p.Ala1096=)
c.3156C>A (p.Ala1052=)
20g.32436021C=CA2360293495ASXL1c.3309C= (p.Ala1103=)
c.3126C= (p.Ala1042=)
n.5662C=
c.1869+1440C= (n.1869+1440C=)
c.3294C= (p.Ala1098=)
c.3306C= (p.Ala1102=)
c.3279C= (p.Ala1093=)
c.3225C= (p.Ala1075=)
c.2625C= (p.Ala875=)
c.3573C= (p.Ala1191=)
c.3570C= (p.Ala1190=)
c.3489C= (p.Ala1163=)
c.3420C= (p.Ala1140=)
c.3288C= (p.Ala1096=)
c.3156C= (p.Ala1052=)
20g.32436021C>GCA510466997ASXL1c.3309C>G (p.Ala1103=)
c.3126C>G (p.Ala1042=)
n.5662C>G
c.1869+1440C>G (n.1869+1440C>G)
c.3294C>G (p.Ala1098=)
c.3306C>G (p.Ala1102=)
c.3279C>G (p.Ala1093=)
c.3225C>G (p.Ala1075=)
c.2625C>G (p.Ala875=)
c.3573C>G (p.Ala1191=)
c.3570C>G (p.Ala1190=)
c.3489C>G (p.Ala1163=)
c.3420C>G (p.Ala1140=)
c.3288C>G (p.Ala1096=)
c.3156C>G (p.Ala1052=)
20g.32436021C>TCA510466998ASXL1c.3309C>T (p.Ala1103=)
c.3126C>T (p.Ala1042=)
n.5662C>T
c.1869+1440C>T (n.1869+1440C>T)
c.3294C>T (p.Ala1098=)
c.3306C>T (p.Ala1102=)
c.3279C>T (p.Ala1093=)
c.3225C>T (p.Ala1075=)
c.2625C>T (p.Ala875=)
c.3573C>T (p.Ala1191=)
c.3570C>T (p.Ala1190=)
c.3489C>T (p.Ala1163=)
c.3420C>T (p.Ala1140=)
c.3288C>T (p.Ala1096=)
c.3156C>T (p.Ala1052=)
 dbSNP gnomAD v4
20g.32436022A=CA2360293496ASXL1c.3310A= (p.Thr1104=)
c.3127A= (p.Thr1043=)
n.5663A=
c.1869+1441A= (n.1869+1441A=)
c.3295A= (p.Thr1099=)
c.3307A= (p.Thr1103=)
c.3280A= (p.Thr1094=)
c.3226A= (p.Thr1076=)
c.2626A= (p.Thr876=)
c.3574A= (p.Thr1192=)
c.3571A= (p.Thr1191=)
c.3490A= (p.Thr1164=)
c.3421A= (p.Thr1141=)
c.3289A= (p.Thr1097=)
c.3157A= (p.Thr1053=)
20g.32436022A>CCA408562791ASXL1c.3310A>C (p.Thr1104Pro)
c.3127A>C (p.Thr1043Pro)
n.5663A>C
c.1869+1441A>C (n.1869+1441A>C)
c.3295A>C (p.Thr1099Pro)
c.3307A>C (p.Thr1103Pro)
c.3280A>C (p.Thr1094Pro)
c.3226A>C (p.Thr1076Pro)
c.2626A>C (p.Thr876Pro)
c.3574A>C (p.Thr1192Pro)
c.3571A>C (p.Thr1191Pro)
c.3490A>C (p.Thr1164Pro)
c.3421A>C (p.Thr1141Pro)
c.3289A>C (p.Thr1097Pro)
c.3157A>C (p.Thr1053Pro)
20g.32436022A>GCA313926342ASXL1c.3310A>G (p.Thr1104Ala)
c.3127A>G (p.Thr1043Ala)
n.5663A>G
c.1869+1441A>G (n.1869+1441A>G)
c.3295A>G (p.Thr1099Ala)
c.3307A>G (p.Thr1103Ala)
c.3280A>G (p.Thr1094Ala)
c.3226A>G (p.Thr1076Ala)
c.2626A>G (p.Thr876Ala)
c.3574A>G (p.Thr1192Ala)
c.3571A>G (p.Thr1191Ala)
c.3490A>G (p.Thr1164Ala)
c.3421A>G (p.Thr1141Ala)
c.3289A>G (p.Thr1097Ala)
c.3157A>G (p.Thr1053Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436022A>TCA408562792ASXL1c.3310A>T (p.Thr1104Ser)
c.3127A>T (p.Thr1043Ser)
n.5663A>T
c.1869+1441A>T (n.1869+1441A>T)
c.3295A>T (p.Thr1099Ser)
c.3307A>T (p.Thr1103Ser)
c.3280A>T (p.Thr1094Ser)
c.3226A>T (p.Thr1076Ser)
c.2626A>T (p.Thr876Ser)
c.3574A>T (p.Thr1192Ser)
c.3571A>T (p.Thr1191Ser)
c.3490A>T (p.Thr1164Ser)
c.3421A>T (p.Thr1141Ser)
c.3289A>T (p.Thr1097Ser)
c.3157A>T (p.Thr1053Ser)
20g.32436024_32436027dupCA2695202555ASXL1c.3312_3315dup (p.Pro1106Ter)
c.3129_3132dup (p.Pro1045Ter)
n.5665_5668dup
c.1869+1443_1869+1446dup (n.1869+1443_1869+1446dup)
c.3297_3300dup (p.Pro1101Ter)
c.3309_3312dup (p.Pro1105Ter)
c.3282_3285dup (p.Pro1096Ter)
c.3228_3231dup (p.Pro1078Ter)
c.2628_2631dup (p.Pro878Ter)
c.3576_3579dup (p.Pro1194Ter)
c.3573_3576dup (p.Pro1193Ter)
c.3492_3495dup (p.Pro1166Ter)
c.3423_3426dup (p.Pro1143Ter)
c.3291_3294dup (p.Pro1099Ter)
c.3159_3162dup (p.Pro1055Ter)
20g.32436023C>ACA408562793ASXL1c.3311C>A (p.Thr1104Asn)
c.3128C>A (p.Thr1043Asn)
n.5664C>A
c.1869+1442C>A (n.1869+1442C>A)
c.3296C>A (p.Thr1099Asn)
c.3308C>A (p.Thr1103Asn)
c.3281C>A (p.Thr1094Asn)
c.3227C>A (p.Thr1076Asn)
c.2627C>A (p.Thr876Asn)
c.3575C>A (p.Thr1192Asn)
c.3572C>A (p.Thr1191Asn)
c.3491C>A (p.Thr1164Asn)
c.3422C>A (p.Thr1141Asn)
c.3290C>A (p.Thr1097Asn)
c.3158C>A (p.Thr1053Asn)
20g.32436023C=CA2360293497ASXL1c.3311C= (p.Thr1104=)
c.3128C= (p.Thr1043=)
n.5664C=
c.1869+1442C= (n.1869+1442C=)
c.3296C= (p.Thr1099=)
c.3308C= (p.Thr1103=)
c.3281C= (p.Thr1094=)
c.3227C= (p.Thr1076=)
c.2627C= (p.Thr876=)
c.3575C= (p.Thr1192=)
c.3572C= (p.Thr1191=)
c.3491C= (p.Thr1164=)
c.3422C= (p.Thr1141=)
c.3290C= (p.Thr1097=)
c.3158C= (p.Thr1053=)
20g.32436023C>GCA9808790ASXL1c.3311C>G (p.Thr1104Ser)
c.3128C>G (p.Thr1043Ser)
n.5664C>G
c.1869+1442C>G (n.1869+1442C>G)
c.3296C>G (p.Thr1099Ser)
c.3308C>G (p.Thr1103Ser)
c.3281C>G (p.Thr1094Ser)
c.3227C>G (p.Thr1076Ser)
c.2627C>G (p.Thr876Ser)
c.3575C>G (p.Thr1192Ser)
c.3572C>G (p.Thr1191Ser)
c.3491C>G (p.Thr1164Ser)
c.3422C>G (p.Thr1141Ser)
c.3290C>G (p.Thr1097Ser)
c.3158C>G (p.Thr1053Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436023C>TCA408562794ASXL1c.3311C>T (p.Thr1104Ile)
c.3128C>T (p.Thr1043Ile)
n.5664C>T
c.1869+1442C>T (n.1869+1442C>T)
c.3296C>T (p.Thr1099Ile)
c.3308C>T (p.Thr1103Ile)
c.3281C>T (p.Thr1094Ile)
c.3227C>T (p.Thr1076Ile)
c.2627C>T (p.Thr876Ile)
c.3575C>T (p.Thr1192Ile)
c.3572C>T (p.Thr1191Ile)
c.3491C>T (p.Thr1164Ile)
c.3422C>T (p.Thr1141Ile)
c.3290C>T (p.Thr1097Ile)
c.3158C>T (p.Thr1053Ile)
 gnomAD v4
20g.32436024T>ACA510467009ASXL1c.3312T>A (p.Thr1104=)
c.3129T>A (p.Thr1043=)
n.5665T>A
c.1869+1443T>A (n.1869+1443T>A)
c.3297T>A (p.Thr1099=)
c.3309T>A (p.Thr1103=)
c.3282T>A (p.Thr1094=)
c.3228T>A (p.Thr1076=)
c.2628T>A (p.Thr876=)
c.3576T>A (p.Thr1192=)
c.3573T>A (p.Thr1191=)
c.3492T>A (p.Thr1164=)
c.3423T>A (p.Thr1141=)
c.3291T>A (p.Thr1097=)
c.3159T>A (p.Thr1053=)
20g.32436024T>CCA510467014ASXL1c.3312T>C (p.Thr1104=)
c.3129T>C (p.Thr1043=)
n.5665T>C
c.1869+1443T>C (n.1869+1443T>C)
c.3297T>C (p.Thr1099=)
c.3309T>C (p.Thr1103=)
c.3282T>C (p.Thr1094=)
c.3228T>C (p.Thr1076=)
c.2628T>C (p.Thr876=)
c.3576T>C (p.Thr1192=)
c.3573T>C (p.Thr1191=)
c.3492T>C (p.Thr1164=)
c.3423T>C (p.Thr1141=)
c.3291T>C (p.Thr1097=)
c.3159T>C (p.Thr1053=)
20g.32436024T>GCA510467015ASXL1c.3312T>G (p.Thr1104=)
c.3129T>G (p.Thr1043=)
n.5665T>G
c.1869+1443T>G (n.1869+1443T>G)
c.3297T>G (p.Thr1099=)
c.3309T>G (p.Thr1103=)
c.3282T>G (p.Thr1094=)
c.3228T>G (p.Thr1076=)
c.2628T>G (p.Thr876=)
c.3576T>G (p.Thr1192=)
c.3573T>G (p.Thr1191=)
c.3492T>G (p.Thr1164=)
c.3423T>G (p.Thr1141=)
c.3291T>G (p.Thr1097=)
c.3159T>G (p.Thr1053=)
20g.32436025A=CA2360293498ASXL1c.3313A= (p.Asn1105=)
c.3130A= (p.Asn1044=)
n.5666A=
c.1869+1444A= (n.1869+1444A=)
c.3298A= (p.Asn1100=)
c.3310A= (p.Asn1104=)
c.3283A= (p.Asn1095=)
c.3229A= (p.Asn1077=)
c.2629A= (p.Asn877=)
c.3577A= (p.Asn1193=)
c.3574A= (p.Asn1192=)
c.3493A= (p.Asn1165=)
c.3424A= (p.Asn1142=)
c.3292A= (p.Asn1098=)
c.3160A= (p.Asn1054=)
20g.32436025A>CCA408562795ASXL1c.3313A>C (p.Asn1105His)
c.3130A>C (p.Asn1044His)
n.5666A>C
c.1869+1444A>C (n.1869+1444A>C)
c.3298A>C (p.Asn1100His)
c.3310A>C (p.Asn1104His)
c.3283A>C (p.Asn1095His)
c.3229A>C (p.Asn1077His)
c.2629A>C (p.Asn877His)
c.3577A>C (p.Asn1193His)
c.3574A>C (p.Asn1192His)
c.3493A>C (p.Asn1165His)
c.3424A>C (p.Asn1142His)
c.3292A>C (p.Asn1098His)
c.3160A>C (p.Asn1054His)
20g.32436025A>GCA408562796ASXL1c.3313A>G (p.Asn1105Asp)
c.3130A>G (p.Asn1044Asp)
n.5666A>G
c.1869+1444A>G (n.1869+1444A>G)
c.3298A>G (p.Asn1100Asp)
c.3310A>G (p.Asn1104Asp)
c.3283A>G (p.Asn1095Asp)
c.3229A>G (p.Asn1077Asp)
c.2629A>G (p.Asn877Asp)
c.3577A>G (p.Asn1193Asp)
c.3574A>G (p.Asn1192Asp)
c.3493A>G (p.Asn1165Asp)
c.3424A>G (p.Asn1142Asp)
c.3292A>G (p.Asn1098Asp)
c.3160A>G (p.Asn1054Asp)
20g.32436025A>TCA9808791ASXL1c.3313A>T (p.Asn1105Tyr)
c.3130A>T (p.Asn1044Tyr)
n.5666A>T
c.1869+1444A>T (n.1869+1444A>T)
c.3298A>T (p.Asn1100Tyr)
c.3310A>T (p.Asn1104Tyr)
c.3283A>T (p.Asn1095Tyr)
c.3229A>T (p.Asn1077Tyr)
c.2629A>T (p.Asn877Tyr)
c.3577A>T (p.Asn1193Tyr)
c.3574A>T (p.Asn1192Tyr)
c.3493A>T (p.Asn1165Tyr)
c.3424A>T (p.Asn1142Tyr)
c.3292A>T (p.Asn1098Tyr)
c.3160A>T (p.Asn1054Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436026A>CCA408562797ASXL1c.3314A>C (p.Asn1105Thr)
c.3131A>C (p.Asn1044Thr)
n.5667A>C
c.1869+1445A>C (n.1869+1445A>C)
c.3299A>C (p.Asn1100Thr)
c.3311A>C (p.Asn1104Thr)
c.3284A>C (p.Asn1095Thr)
c.3230A>C (p.Asn1077Thr)
c.2630A>C (p.Asn877Thr)
c.3578A>C (p.Asn1193Thr)
c.3575A>C (p.Asn1192Thr)
c.3494A>C (p.Asn1165Thr)
c.3425A>C (p.Asn1142Thr)
c.3293A>C (p.Asn1098Thr)
c.3161A>C (p.Asn1054Thr)
20g.32436026A>GCA408562798ASXL1c.3314A>G (p.Asn1105Ser)
c.3131A>G (p.Asn1044Ser)
n.5667A>G
c.1869+1445A>G (n.1869+1445A>G)
c.3299A>G (p.Asn1100Ser)
c.3311A>G (p.Asn1104Ser)
c.3284A>G (p.Asn1095Ser)
c.3230A>G (p.Asn1077Ser)
c.2630A>G (p.Asn877Ser)
c.3578A>G (p.Asn1193Ser)
c.3575A>G (p.Asn1192Ser)
c.3494A>G (p.Asn1165Ser)
c.3425A>G (p.Asn1142Ser)
c.3293A>G (p.Asn1098Ser)
c.3161A>G (p.Asn1054Ser)
20g.32436026A>TCA408562799ASXL1c.3314A>T (p.Asn1105Ile)
c.3131A>T (p.Asn1044Ile)
n.5667A>T
c.1869+1445A>T (n.1869+1445A>T)
c.3299A>T (p.Asn1100Ile)
c.3311A>T (p.Asn1104Ile)
c.3284A>T (p.Asn1095Ile)
c.3230A>T (p.Asn1077Ile)
c.2630A>T (p.Asn877Ile)
c.3578A>T (p.Asn1193Ile)
c.3575A>T (p.Asn1192Ile)
c.3494A>T (p.Asn1165Ile)
c.3425A>T (p.Asn1142Ile)
c.3293A>T (p.Asn1098Ile)
c.3161A>T (p.Asn1054Ile)
20g.32436027C>ACA408562801ASXL1c.3315C>A (p.Asn1105Lys)
c.3132C>A (p.Asn1044Lys)
n.5668C>A
c.1869+1446C>A (n.1869+1446C>A)
c.3300C>A (p.Asn1100Lys)
c.3312C>A (p.Asn1104Lys)
c.3285C>A (p.Asn1095Lys)
c.3231C>A (p.Asn1077Lys)
c.2631C>A (p.Asn877Lys)
c.3579C>A (p.Asn1193Lys)
c.3576C>A (p.Asn1192Lys)
c.3495C>A (p.Asn1165Lys)
c.3426C>A (p.Asn1142Lys)
c.3294C>A (p.Asn1098Lys)
c.3162C>A (p.Asn1054Lys)
20g.32436027C=CA2360293499ASXL1c.3315C= (p.Asn1105=)
c.3132C= (p.Asn1044=)
n.5668C=
c.1869+1446C= (n.1869+1446C=)
c.3300C= (p.Asn1100=)
c.3312C= (p.Asn1104=)
c.3285C= (p.Asn1095=)
c.3231C= (p.Asn1077=)
c.2631C= (p.Asn877=)
c.3579C= (p.Asn1193=)
c.3576C= (p.Asn1192=)
c.3495C= (p.Asn1165=)
c.3426C= (p.Asn1142=)
c.3294C= (p.Asn1098=)
c.3162C= (p.Asn1054=)
20g.32436027C>GCA408562800ASXL1c.3315C>G (p.Asn1105Lys)
c.3132C>G (p.Asn1044Lys)
n.5668C>G
c.1869+1446C>G (n.1869+1446C>G)
c.3300C>G (p.Asn1100Lys)
c.3312C>G (p.Asn1104Lys)
c.3285C>G (p.Asn1095Lys)
c.3231C>G (p.Asn1077Lys)
c.2631C>G (p.Asn877Lys)
c.3579C>G (p.Asn1193Lys)
c.3576C>G (p.Asn1192Lys)
c.3495C>G (p.Asn1165Lys)
c.3426C>G (p.Asn1142Lys)
c.3294C>G (p.Asn1098Lys)
c.3162C>G (p.Asn1054Lys)
20g.32436027C>TCA9808792ASXL1c.3315C>T (p.Asn1105=)
c.3132C>T (p.Asn1044=)
n.5668C>T
c.1869+1446C>T (n.1869+1446C>T)
c.3300C>T (p.Asn1100=)
c.3312C>T (p.Asn1104=)
c.3285C>T (p.Asn1095=)
c.3231C>T (p.Asn1077=)
c.2631C>T (p.Asn877=)
c.3579C>T (p.Asn1193=)
c.3576C>T (p.Asn1192=)
c.3495C>T (p.Asn1165=)
c.3426C>T (p.Asn1142=)
c.3294C>T (p.Asn1098=)
c.3162C>T (p.Asn1054=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436028C>ACA408562802ASXL1c.3316C>A (p.Pro1106Thr)
c.3133C>A (p.Pro1045Thr)
n.5669C>A
c.1869+1447C>A (n.1869+1447C>A)
c.3301C>A (p.Pro1101Thr)
c.3313C>A (p.Pro1105Thr)
c.3286C>A (p.Pro1096Thr)
c.3232C>A (p.Pro1078Thr)
c.2632C>A (p.Pro878Thr)
c.3580C>A (p.Pro1194Thr)
c.3577C>A (p.Pro1193Thr)
c.3496C>A (p.Pro1166Thr)
c.3427C>A (p.Pro1143Thr)
c.3295C>A (p.Pro1099Thr)
c.3163C>A (p.Pro1055Thr)
 dbSNP
20g.32436028C>GCA408562803ASXL1c.3316C>G (p.Pro1106Ala)
c.3133C>G (p.Pro1045Ala)
n.5669C>G
c.1869+1447C>G (n.1869+1447C>G)
c.3301C>G (p.Pro1101Ala)
c.3313C>G (p.Pro1105Ala)
c.3286C>G (p.Pro1096Ala)
c.3232C>G (p.Pro1078Ala)
c.2632C>G (p.Pro878Ala)
c.3580C>G (p.Pro1194Ala)
c.3577C>G (p.Pro1193Ala)
c.3496C>G (p.Pro1166Ala)
c.3427C>G (p.Pro1143Ala)
c.3295C>G (p.Pro1099Ala)
c.3163C>G (p.Pro1055Ala)
 dbSNP gnomAD v4
20g.32436028C>TCA408562804ASXL1c.3316C>T (p.Pro1106Ser)
c.3133C>T (p.Pro1045Ser)
n.5669C>T
c.1869+1447C>T (n.1869+1447C>T)
c.3301C>T (p.Pro1101Ser)
c.3313C>T (p.Pro1105Ser)
c.3286C>T (p.Pro1096Ser)
c.3232C>T (p.Pro1078Ser)
c.2632C>T (p.Pro878Ser)
c.3580C>T (p.Pro1194Ser)
c.3577C>T (p.Pro1193Ser)
c.3496C>T (p.Pro1166Ser)
c.3427C>T (p.Pro1143Ser)
c.3295C>T (p.Pro1099Ser)
c.3163C>T (p.Pro1055Ser)
20g.32436029C>ACA408562805ASXL1c.3317C>A (p.Pro1106Gln)
c.3134C>A (p.Pro1045Gln)
n.5670C>A
c.1869+1448C>A (n.1869+1448C>A)
c.3302C>A (p.Pro1101Gln)
c.3314C>A (p.Pro1105Gln)
c.3287C>A (p.Pro1096Gln)
c.3233C>A (p.Pro1078Gln)
c.2633C>A (p.Pro878Gln)
c.3581C>A (p.Pro1194Gln)
c.3578C>A (p.Pro1193Gln)
c.3497C>A (p.Pro1166Gln)
c.3428C>A (p.Pro1143Gln)
c.3296C>A (p.Pro1099Gln)
c.3164C>A (p.Pro1055Gln)
 dbSNP
20g.32436029C>GCA408562806ASXL1c.3317C>G (p.Pro1106Arg)
c.3134C>G (p.Pro1045Arg)
n.5670C>G
c.1869+1448C>G (n.1869+1448C>G)
c.3302C>G (p.Pro1101Arg)
c.3314C>G (p.Pro1105Arg)
c.3287C>G (p.Pro1096Arg)
c.3233C>G (p.Pro1078Arg)
c.2633C>G (p.Pro878Arg)
c.3581C>G (p.Pro1194Arg)
c.3578C>G (p.Pro1193Arg)
c.3497C>G (p.Pro1166Arg)
c.3428C>G (p.Pro1143Arg)
c.3296C>G (p.Pro1099Arg)
c.3164C>G (p.Pro1055Arg)
20g.32436029C>TCA408562807ASXL1c.3317C>T (p.Pro1106Leu)
c.3134C>T (p.Pro1045Leu)
n.5670C>T
c.1869+1448C>T (n.1869+1448C>T)
c.3302C>T (p.Pro1101Leu)
c.3314C>T (p.Pro1105Leu)
c.3287C>T (p.Pro1096Leu)
c.3233C>T (p.Pro1078Leu)
c.2633C>T (p.Pro878Leu)
c.3581C>T (p.Pro1194Leu)
c.3578C>T (p.Pro1193Leu)
c.3497C>T (p.Pro1166Leu)
c.3428C>T (p.Pro1143Leu)
c.3296C>T (p.Pro1099Leu)
c.3164C>T (p.Pro1055Leu)
20g.32436030A>CCA510467028ASXL1c.3318A>C (p.Pro1106=)
c.3135A>C (p.Pro1045=)
n.5671A>C
c.1869+1449A>C (n.1869+1449A>C)
c.3303A>C (p.Pro1101=)
c.3315A>C (p.Pro1105=)
c.3288A>C (p.Pro1096=)
c.3234A>C (p.Pro1078=)
c.2634A>C (p.Pro878=)
c.3582A>C (p.Pro1194=)
c.3579A>C (p.Pro1193=)
c.3498A>C (p.Pro1166=)
c.3429A>C (p.Pro1143=)
c.3297A>C (p.Pro1099=)
c.3165A>C (p.Pro1055=)
20g.32436030A>GCA510467029ASXL1c.3318A>G (p.Pro1106=)
c.3135A>G (p.Pro1045=)
n.5671A>G
c.1869+1449A>G (n.1869+1449A>G)
c.3303A>G (p.Pro1101=)
c.3315A>G (p.Pro1105=)
c.3288A>G (p.Pro1096=)
c.3234A>G (p.Pro1078=)
c.2634A>G (p.Pro878=)
c.3582A>G (p.Pro1194=)
c.3579A>G (p.Pro1193=)
c.3498A>G (p.Pro1166=)
c.3429A>G (p.Pro1143=)
c.3297A>G (p.Pro1099=)
c.3165A>G (p.Pro1055=)
 gnomAD v4
20g.32436030A>TCA510467030ASXL1c.3318A>T (p.Pro1106=)
c.3135A>T (p.Pro1045=)
n.5671A>T
c.1869+1449A>T (n.1869+1449A>T)
c.3303A>T (p.Pro1101=)
c.3315A>T (p.Pro1105=)
c.3288A>T (p.Pro1096=)
c.3234A>T (p.Pro1078=)
c.2634A>T (p.Pro878=)
c.3582A>T (p.Pro1194=)
c.3579A>T (p.Pro1193=)
c.3498A>T (p.Pro1166=)
c.3429A>T (p.Pro1143=)
c.3297A>T (p.Pro1099=)
c.3165A>T (p.Pro1055=)
 dbSNP
20g.32436031C>ACA408562808ASXL1c.3319C>A (p.Leu1107Ile)
c.3136C>A (p.Leu1046Ile)
n.5672C>A
c.1869+1450C>A (n.1869+1450C>A)
c.3304C>A (p.Leu1102Ile)
c.3316C>A (p.Leu1106Ile)
c.3289C>A (p.Leu1097Ile)
c.3235C>A (p.Leu1079Ile)
c.2635C>A (p.Leu879Ile)
c.3583C>A (p.Leu1195Ile)
c.3580C>A (p.Leu1194Ile)
c.3499C>A (p.Leu1167Ile)
c.3430C>A (p.Leu1144Ile)
c.3298C>A (p.Leu1100Ile)
c.3166C>A (p.Leu1056Ile)
20g.32436031C>GCA408562809ASXL1c.3319C>G (p.Leu1107Val)
c.3136C>G (p.Leu1046Val)
n.5672C>G
c.1869+1450C>G (n.1869+1450C>G)
c.3304C>G (p.Leu1102Val)
c.3316C>G (p.Leu1106Val)
c.3289C>G (p.Leu1097Val)
c.3235C>G (p.Leu1079Val)
c.2635C>G (p.Leu879Val)
c.3583C>G (p.Leu1195Val)
c.3580C>G (p.Leu1194Val)
c.3499C>G (p.Leu1167Val)
c.3430C>G (p.Leu1144Val)
c.3298C>G (p.Leu1100Val)
c.3166C>G (p.Leu1056Val)
 gnomAD v4
20g.32436031C>TCA408562810ASXL1c.3319C>T (p.Leu1107Phe)
c.3136C>T (p.Leu1046Phe)
n.5672C>T
c.1869+1450C>T (n.1869+1450C>T)
c.3304C>T (p.Leu1102Phe)
c.3316C>T (p.Leu1106Phe)
c.3289C>T (p.Leu1097Phe)
c.3235C>T (p.Leu1079Phe)
c.2635C>T (p.Leu879Phe)
c.3583C>T (p.Leu1195Phe)
c.3580C>T (p.Leu1194Phe)
c.3499C>T (p.Leu1167Phe)
c.3430C>T (p.Leu1144Phe)
c.3298C>T (p.Leu1100Phe)
c.3166C>T (p.Leu1056Phe)
 gnomAD v4 COSMIC
20g.32436032T>ACA408562811ASXL1c.3320T>A (p.Leu1107His)
c.3137T>A (p.Leu1046His)
n.5673T>A
c.1869+1451T>A (n.1869+1451T>A)
c.3305T>A (p.Leu1102His)
c.3317T>A (p.Leu1106His)
c.3290T>A (p.Leu1097His)
c.3236T>A (p.Leu1079His)
c.2636T>A (p.Leu879His)
c.3584T>A (p.Leu1195His)
c.3581T>A (p.Leu1194His)
c.3500T>A (p.Leu1167His)
c.3431T>A (p.Leu1144His)
c.3299T>A (p.Leu1100His)
c.3167T>A (p.Leu1056His)
20g.32436032T>CCA408562812ASXL1c.3320T>C (p.Leu1107Pro)
c.3137T>C (p.Leu1046Pro)
n.5673T>C
c.1869+1451T>C (n.1869+1451T>C)
c.3305T>C (p.Leu1102Pro)
c.3317T>C (p.Leu1106Pro)
c.3290T>C (p.Leu1097Pro)
c.3236T>C (p.Leu1079Pro)
c.2636T>C (p.Leu879Pro)
c.3584T>C (p.Leu1195Pro)
c.3581T>C (p.Leu1194Pro)
c.3500T>C (p.Leu1167Pro)
c.3431T>C (p.Leu1144Pro)
c.3299T>C (p.Leu1100Pro)
c.3167T>C (p.Leu1056Pro)
20g.32436032T>GCA408562813ASXL1c.3320T>G (p.Leu1107Arg)
c.3137T>G (p.Leu1046Arg)
n.5673T>G
c.1869+1451T>G (n.1869+1451T>G)
c.3305T>G (p.Leu1102Arg)
c.3317T>G (p.Leu1106Arg)
c.3290T>G (p.Leu1097Arg)
c.3236T>G (p.Leu1079Arg)
c.2636T>G (p.Leu879Arg)
c.3584T>G (p.Leu1195Arg)
c.3581T>G (p.Leu1194Arg)
c.3500T>G (p.Leu1167Arg)
c.3431T>G (p.Leu1144Arg)
c.3299T>G (p.Leu1100Arg)
c.3167T>G (p.Leu1056Arg)
20g.32436033T>ACA510467041ASXL1c.3321T>A (p.Leu1107=)
c.3138T>A (p.Leu1046=)
n.5674T>A
c.1869+1452T>A (n.1869+1452T>A)
c.3306T>A (p.Leu1102=)
c.3318T>A (p.Leu1106=)
c.3291T>A (p.Leu1097=)
c.3237T>A (p.Leu1079=)
c.2637T>A (p.Leu879=)
c.3585T>A (p.Leu1195=)
c.3582T>A (p.Leu1194=)
c.3501T>A (p.Leu1167=)
c.3432T>A (p.Leu1144=)
c.3300T>A (p.Leu1100=)
c.3168T>A (p.Leu1056=)
20g.32436033T>CCA9808793ASXL1c.3321T>C (p.Leu1107=)
c.3138T>C (p.Leu1046=)
n.5674T>C
c.1869+1452T>C (n.1869+1452T>C)
c.3306T>C (p.Leu1102=)
c.3318T>C (p.Leu1106=)
c.3291T>C (p.Leu1097=)
c.3237T>C (p.Leu1079=)
c.2637T>C (p.Leu879=)
c.3585T>C (p.Leu1195=)
c.3582T>C (p.Leu1194=)
c.3501T>C (p.Leu1167=)
c.3432T>C (p.Leu1144=)
c.3300T>C (p.Leu1100=)
c.3168T>C (p.Leu1056=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436033T>GCA510467044ASXL1c.3321T>G (p.Leu1107=)
c.3138T>G (p.Leu1046=)
n.5674T>G
c.1869+1452T>G (n.1869+1452T>G)
c.3306T>G (p.Leu1102=)
c.3318T>G (p.Leu1106=)
c.3291T>G (p.Leu1097=)
c.3237T>G (p.Leu1079=)
c.2637T>G (p.Leu879=)
c.3585T>G (p.Leu1195=)
c.3582T>G (p.Leu1194=)
c.3501T>G (p.Leu1167=)
c.3432T>G (p.Leu1144=)
c.3300T>G (p.Leu1100=)
c.3168T>G (p.Leu1056=)
20g.32436033T=CA2360293500ASXL1c.3321T= (p.Leu1107=)
c.3138T= (p.Leu1046=)
n.5674T=
c.1869+1452T= (n.1869+1452T=)
c.3306T= (p.Leu1102=)
c.3318T= (p.Leu1106=)
c.3291T= (p.Leu1097=)
c.3237T= (p.Leu1079=)
c.2637T= (p.Leu879=)
c.3585T= (p.Leu1195=)
c.3582T= (p.Leu1194=)
c.3501T= (p.Leu1167=)
c.3432T= (p.Leu1144=)
c.3300T= (p.Leu1100=)
c.3168T= (p.Leu1056=)
20g.32436034G>ACA408562816ASXL1c.3322G>A (p.Val1108Met)
c.3139G>A (p.Val1047Met)
n.5675G>A
c.1869+1453G>A (n.1869+1453G>A)
c.3307G>A (p.Val1103Met)
c.3319G>A (p.Val1107Met)
c.3292G>A (p.Val1098Met)
c.3238G>A (p.Val1080Met)
c.2638G>A (p.Val880Met)
c.3586G>A (p.Val1196Met)
c.3583G>A (p.Val1195Met)
c.3502G>A (p.Val1168Met)
c.3433G>A (p.Val1145Met)
c.3301G>A (p.Val1101Met)
c.3169G>A (p.Val1057Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32436034G>CCA408562814ASXL1c.3322G>C (p.Val1108Leu)
c.3139G>C (p.Val1047Leu)
n.5675G>C
c.1869+1453G>C (n.1869+1453G>C)
c.3307G>C (p.Val1103Leu)
c.3319G>C (p.Val1107Leu)
c.3292G>C (p.Val1098Leu)
c.3238G>C (p.Val1080Leu)
c.2638G>C (p.Val880Leu)
c.3586G>C (p.Val1196Leu)
c.3583G>C (p.Val1195Leu)
c.3502G>C (p.Val1168Leu)
c.3433G>C (p.Val1145Leu)
c.3301G>C (p.Val1101Leu)
c.3169G>C (p.Val1057Leu)
 dbSNP gnomAD v4
20g.32436034G=CA2360293501ASXL1c.3322G= (p.Val1108=)
c.3139G= (p.Val1047=)
n.5675G=
c.1869+1453G= (n.1869+1453G=)
c.3307G= (p.Val1103=)
c.3319G= (p.Val1107=)
c.3292G= (p.Val1098=)
c.3238G= (p.Val1080=)
c.2638G= (p.Val880=)
c.3586G= (p.Val1196=)
c.3583G= (p.Val1195=)
c.3502G= (p.Val1168=)
c.3433G= (p.Val1145=)
c.3301G= (p.Val1101=)
c.3169G= (p.Val1057=)
20g.32436034G>TCA408562815ASXL1c.3322G>T (p.Val1108Leu)
c.3139G>T (p.Val1047Leu)
n.5675G>T
c.1869+1453G>T (n.1869+1453G>T)
c.3307G>T (p.Val1103Leu)
c.3319G>T (p.Val1107Leu)
c.3292G>T (p.Val1098Leu)
c.3238G>T (p.Val1080Leu)
c.2638G>T (p.Val880Leu)
c.3586G>T (p.Val1196Leu)
c.3583G>T (p.Val1195Leu)
c.3502G>T (p.Val1168Leu)
c.3433G>T (p.Val1145Leu)
c.3301G>T (p.Val1101Leu)
c.3169G>T (p.Val1057Leu)
20g.32436035T>ACA408562817ASXL1c.3323T>A (p.Val1108Glu)
c.3140T>A (p.Val1047Glu)
n.5676T>A
c.1869+1454T>A (n.1869+1454T>A)
c.3308T>A (p.Val1103Glu)
c.3320T>A (p.Val1107Glu)
c.3293T>A (p.Val1098Glu)
c.3239T>A (p.Val1080Glu)
c.2639T>A (p.Val880Glu)
c.3587T>A (p.Val1196Glu)
c.3584T>A (p.Val1195Glu)
c.3503T>A (p.Val1168Glu)
c.3434T>A (p.Val1145Glu)
c.3302T>A (p.Val1101Glu)
c.3170T>A (p.Val1057Glu)
20g.32436035T>CCA408562818ASXL1c.3323T>C (p.Val1108Ala)
c.3140T>C (p.Val1047Ala)
n.5676T>C
c.1869+1454T>C (n.1869+1454T>C)
c.3308T>C (p.Val1103Ala)
c.3320T>C (p.Val1107Ala)
c.3293T>C (p.Val1098Ala)
c.3239T>C (p.Val1080Ala)
c.2639T>C (p.Val880Ala)
c.3587T>C (p.Val1196Ala)
c.3584T>C (p.Val1195Ala)
c.3503T>C (p.Val1168Ala)
c.3434T>C (p.Val1145Ala)
c.3302T>C (p.Val1101Ala)
c.3170T>C (p.Val1057Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.32436035T>GCA408562819ASXL1c.3323T>G (p.Val1108Gly)
c.3140T>G (p.Val1047Gly)
n.5676T>G
c.1869+1454T>G (n.1869+1454T>G)
c.3308T>G (p.Val1103Gly)
c.3320T>G (p.Val1107Gly)
c.3293T>G (p.Val1098Gly)
c.3239T>G (p.Val1080Gly)
c.2639T>G (p.Val880Gly)
c.3587T>G (p.Val1196Gly)
c.3584T>G (p.Val1195Gly)
c.3503T>G (p.Val1168Gly)
c.3434T>G (p.Val1145Gly)
c.3302T>G (p.Val1101Gly)
c.3170T>G (p.Val1057Gly)
 ClinVar dbSNP
20g.32436035T=CA2360293502ASXL1c.3323T= (p.Val1108=)
c.3140T= (p.Val1047=)
n.5676T=
c.1869+1454T= (n.1869+1454T=)
c.3308T= (p.Val1103=)
c.3320T= (p.Val1107=)
c.3293T= (p.Val1098=)
c.3239T= (p.Val1080=)
c.2639T= (p.Val880=)
c.3587T= (p.Val1196=)
c.3584T= (p.Val1195=)
c.3503T= (p.Val1168=)
c.3434T= (p.Val1145=)
c.3302T= (p.Val1101=)
c.3170T= (p.Val1057=)
20g.32436036G>ACA510467049ASXL1c.3324G>A (p.Val1108=)
c.3141G>A (p.Val1047=)
n.5677G>A
c.1869+1455G>A (n.1869+1455G>A)
c.3309G>A (p.Val1103=)
c.3321G>A (p.Val1107=)
c.3294G>A (p.Val1098=)
c.3240G>A (p.Val1080=)
c.2640G>A (p.Val880=)
c.3588G>A (p.Val1196=)
c.3585G>A (p.Val1195=)
c.3504G>A (p.Val1168=)
c.3435G>A (p.Val1145=)
c.3303G>A (p.Val1101=)
c.3171G>A (p.Val1057=)
20g.32436036G>CCA510467051ASXL1c.3324G>C (p.Val1108=)
c.3141G>C (p.Val1047=)
n.5677G>C
c.1869+1455G>C (n.1869+1455G>C)
c.3309G>C (p.Val1103=)
c.3321G>C (p.Val1107=)
c.3294G>C (p.Val1098=)
c.3240G>C (p.Val1080=)
c.2640G>C (p.Val880=)
c.3588G>C (p.Val1196=)
c.3585G>C (p.Val1195=)
c.3504G>C (p.Val1168=)
c.3435G>C (p.Val1145=)
c.3303G>C (p.Val1101=)
c.3171G>C (p.Val1057=)
20g.32436036G>TCA510467052ASXL1c.3324G>T (p.Val1108=)
c.3141G>T (p.Val1047=)
n.5677G>T
c.1869+1455G>T (n.1869+1455G>T)
c.3309G>T (p.Val1103=)
c.3321G>T (p.Val1107=)
c.3294G>T (p.Val1098=)
c.3240G>T (p.Val1080=)
c.2640G>T (p.Val880=)
c.3588G>T (p.Val1196=)
c.3585G>T (p.Val1195=)
c.3504G>T (p.Val1168=)
c.3435G>T (p.Val1145=)
c.3303G>T (p.Val1101=)
c.3171G>T (p.Val1057=)
20g.32436037A=CA2360293503ASXL1c.3325A= (p.Met1109=)
c.3142A= (p.Met1048=)
n.5678A=
c.1869+1456A= (n.1869+1456A=)
c.3310A= (p.Met1104=)
c.3322A= (p.Met1108=)
c.3295A= (p.Met1099=)
c.3241A= (p.Met1081=)
c.2641A= (p.Met881=)
c.3589A= (p.Met1197=)
c.3586A= (p.Met1196=)
c.3505A= (p.Met1169=)
c.3436A= (p.Met1146=)
c.3304A= (p.Met1102=)
c.3172A= (p.Met1058=)
20g.32436037A>CCA408562820ASXL1c.3325A>C (p.Met1109Leu)
c.3142A>C (p.Met1048Leu)
n.5678A>C
c.1869+1456A>C (n.1869+1456A>C)
c.3310A>C (p.Met1104Leu)
c.3322A>C (p.Met1108Leu)
c.3295A>C (p.Met1099Leu)
c.3241A>C (p.Met1081Leu)
c.2641A>C (p.Met881Leu)
c.3589A>C (p.Met1197Leu)
c.3586A>C (p.Met1196Leu)
c.3505A>C (p.Met1169Leu)
c.3436A>C (p.Met1146Leu)
c.3304A>C (p.Met1102Leu)
c.3172A>C (p.Met1058Leu)
20g.32436037A>GCA408562821ASXL1c.3325A>G (p.Met1109Val)
c.3142A>G (p.Met1048Val)
n.5678A>G
c.1869+1456A>G (n.1869+1456A>G)
c.3310A>G (p.Met1104Val)
c.3322A>G (p.Met1108Val)
c.3295A>G (p.Met1099Val)
c.3241A>G (p.Met1081Val)
c.2641A>G (p.Met881Val)
c.3589A>G (p.Met1197Val)
c.3586A>G (p.Met1196Val)
c.3505A>G (p.Met1169Val)
c.3436A>G (p.Met1146Val)
c.3304A>G (p.Met1102Val)
c.3172A>G (p.Met1058Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32436037A>TCA408562822ASXL1c.3325A>T (p.Met1109Leu)
c.3142A>T (p.Met1048Leu)
n.5678A>T
c.1869+1456A>T (n.1869+1456A>T)
c.3310A>T (p.Met1104Leu)
c.3322A>T (p.Met1108Leu)
c.3295A>T (p.Met1099Leu)
c.3241A>T (p.Met1081Leu)
c.2641A>T (p.Met881Leu)
c.3589A>T (p.Met1197Leu)
c.3586A>T (p.Met1196Leu)
c.3505A>T (p.Met1169Leu)
c.3436A>T (p.Met1146Leu)
c.3304A>T (p.Met1102Leu)
c.3172A>T (p.Met1058Leu)
 gnomAD v4
20g.32436038T>ACA408562823ASXL1c.3326T>A (p.Met1109Lys)
c.3143T>A (p.Met1048Lys)
n.5679T>A
c.1869+1457T>A (n.1869+1457T>A)
c.3311T>A (p.Met1104Lys)
c.3323T>A (p.Met1108Lys)
c.3296T>A (p.Met1099Lys)
c.3242T>A (p.Met1081Lys)
c.2642T>A (p.Met881Lys)
c.3590T>A (p.Met1197Lys)
c.3587T>A (p.Met1196Lys)
c.3506T>A (p.Met1169Lys)
c.3437T>A (p.Met1146Lys)
c.3305T>A (p.Met1102Lys)
c.3173T>A (p.Met1058Lys)
20g.32436038T>CCA9808794ASXL1c.3326T>C (p.Met1109Thr)
c.3143T>C (p.Met1048Thr)
n.5679T>C
c.1869+1457T>C (n.1869+1457T>C)
c.3311T>C (p.Met1104Thr)
c.3323T>C (p.Met1108Thr)
c.3296T>C (p.Met1099Thr)
c.3242T>C (p.Met1081Thr)
c.2642T>C (p.Met881Thr)
c.3590T>C (p.Met1197Thr)
c.3587T>C (p.Met1196Thr)
c.3506T>C (p.Met1169Thr)
c.3437T>C (p.Met1146Thr)
c.3305T>C (p.Met1102Thr)
c.3173T>C (p.Met1058Thr)
 dbSNP ExAC gnomAD v4
20g.32436038T>GCA408562824ASXL1c.3326T>G (p.Met1109Arg)
c.3143T>G (p.Met1048Arg)
n.5679T>G
c.1869+1457T>G (n.1869+1457T>G)
c.3311T>G (p.Met1104Arg)
c.3323T>G (p.Met1108Arg)
c.3296T>G (p.Met1099Arg)
c.3242T>G (p.Met1081Arg)
c.2642T>G (p.Met881Arg)
c.3590T>G (p.Met1197Arg)
c.3587T>G (p.Met1196Arg)
c.3506T>G (p.Met1169Arg)
c.3437T>G (p.Met1146Arg)
c.3305T>G (p.Met1102Arg)
c.3173T>G (p.Met1058Arg)
20g.32436038T=CA2360293504ASXL1c.3326T= (p.Met1109=)
c.3143T= (p.Met1048=)
n.5679T=
c.1869+1457T= (n.1869+1457T=)
c.3311T= (p.Met1104=)
c.3323T= (p.Met1108=)
c.3296T= (p.Met1099=)
c.3242T= (p.Met1081=)
c.2642T= (p.Met881=)
c.3590T= (p.Met1197=)
c.3587T= (p.Met1196=)
c.3506T= (p.Met1169=)
c.3437T= (p.Met1146=)
c.3305T= (p.Met1102=)
c.3173T= (p.Met1058=)
20g.32436039G>ACA9808795ASXL1c.3327G>A (p.Met1109Ile)
c.3144G>A (p.Met1048Ile)
n.5680G>A
c.1869+1458G>A (n.1869+1458G>A)
c.3312G>A (p.Met1104Ile)
c.3324G>A (p.Met1108Ile)
c.3297G>A (p.Met1099Ile)
c.3243G>A (p.Met1081Ile)
c.2643G>A (p.Met881Ile)
c.3591G>A (p.Met1197Ile)
c.3588G>A (p.Met1196Ile)
c.3507G>A (p.Met1169Ile)
c.3438G>A (p.Met1146Ile)
c.3306G>A (p.Met1102Ile)
c.3174G>A (p.Met1058Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436039G>CCA408562825ASXL1c.3327G>C (p.Met1109Ile)
c.3144G>C (p.Met1048Ile)
n.5680G>C
c.1869+1458G>C (n.1869+1458G>C)
c.3312G>C (p.Met1104Ile)
c.3324G>C (p.Met1108Ile)
c.3297G>C (p.Met1099Ile)
c.3243G>C (p.Met1081Ile)
c.2643G>C (p.Met881Ile)
c.3591G>C (p.Met1197Ile)
c.3588G>C (p.Met1196Ile)
c.3507G>C (p.Met1169Ile)
c.3438G>C (p.Met1146Ile)
c.3306G>C (p.Met1102Ile)
c.3174G>C (p.Met1058Ile)
20g.32436039G=CA2360293505ASXL1c.3327G= (p.Met1109=)
c.3144G= (p.Met1048=)
n.5680G=
c.1869+1458G= (n.1869+1458G=)
c.3312G= (p.Met1104=)
c.3324G= (p.Met1108=)
c.3297G= (p.Met1099=)
c.3243G= (p.Met1081=)
c.2643G= (p.Met881=)
c.3591G= (p.Met1197=)
c.3588G= (p.Met1196=)
c.3507G= (p.Met1169=)
c.3438G= (p.Met1146=)
c.3306G= (p.Met1102=)
c.3174G= (p.Met1058=)
20g.32436039G>TCA408562826ASXL1c.3327G>T (p.Met1109Ile)
c.3144G>T (p.Met1048Ile)
n.5680G>T
c.1869+1458G>T (n.1869+1458G>T)
c.3312G>T (p.Met1104Ile)
c.3324G>T (p.Met1108Ile)
c.3297G>T (p.Met1099Ile)
c.3243G>T (p.Met1081Ile)
c.2643G>T (p.Met881Ile)
c.3591G>T (p.Met1197Ile)
c.3588G>T (p.Met1196Ile)
c.3507G>T (p.Met1169Ile)
c.3438G>T (p.Met1146Ile)
c.3306G>T (p.Met1102Ile)
c.3174G>T (p.Met1058Ile)
20g.32436040C>ACA408562828ASXL1c.3328C>A (p.Gln1110Lys)
c.3145C>A (p.Gln1049Lys)
n.5681C>A
c.1869+1459C>A (n.1869+1459C>A)
c.3313C>A (p.Gln1105Lys)
c.3325C>A (p.Gln1109Lys)
c.3298C>A (p.Gln1100Lys)
c.3244C>A (p.Gln1082Lys)
c.2644C>A (p.Gln882Lys)
c.3592C>A (p.Gln1198Lys)
c.3589C>A (p.Gln1197Lys)
c.3508C>A (p.Gln1170Lys)
c.3439C>A (p.Gln1147Lys)
c.3307C>A (p.Gln1103Lys)
c.3175C>A (p.Gln1059Lys)
20g.32436040C=CA2360293506ASXL1c.3328C= (p.Gln1110=)
c.3145C= (p.Gln1049=)
n.5681C=
c.1869+1459C= (n.1869+1459C=)
c.3313C= (p.Gln1105=)
c.3325C= (p.Gln1109=)
c.3298C= (p.Gln1100=)
c.3244C= (p.Gln1082=)
c.2644C= (p.Gln882=)
c.3592C= (p.Gln1198=)
c.3589C= (p.Gln1197=)
c.3508C= (p.Gln1170=)
c.3439C= (p.Gln1147=)
c.3307C= (p.Gln1103=)
c.3175C= (p.Gln1059=)
20g.32436040C>GCA9808796ASXL1c.3328C>G (p.Gln1110Glu)
c.3145C>G (p.Gln1049Glu)
n.5681C>G
c.1869+1459C>G (n.1869+1459C>G)
c.3313C>G (p.Gln1105Glu)
c.3325C>G (p.Gln1109Glu)
c.3298C>G (p.Gln1100Glu)
c.3244C>G (p.Gln1082Glu)
c.2644C>G (p.Gln882Glu)
c.3592C>G (p.Gln1198Glu)
c.3589C>G (p.Gln1197Glu)
c.3508C>G (p.Gln1170Glu)
c.3439C>G (p.Gln1147Glu)
c.3307C>G (p.Gln1103Glu)
c.3175C>G (p.Gln1059Glu)
 dbSNP ExAC
20g.32436040C>TCA408562827ASXL1c.3328C>T (p.Gln1110Ter)
c.3145C>T (p.Gln1049Ter)
n.5681C>T
c.1869+1459C>T (n.1869+1459C>T)
c.3313C>T (p.Gln1105Ter)
c.3325C>T (p.Gln1109Ter)
c.3298C>T (p.Gln1100Ter)
c.3244C>T (p.Gln1082Ter)
c.2644C>T (p.Gln882Ter)
c.3592C>T (p.Gln1198Ter)
c.3589C>T (p.Gln1197Ter)
c.3508C>T (p.Gln1170Ter)
c.3439C>T (p.Gln1147Ter)
c.3307C>T (p.Gln1103Ter)
c.3175C>T (p.Gln1059Ter)
 dbSNP
20g.32436041A=CA2360293507ASXL1c.3329A= (p.Gln1110=)
c.3146A= (p.Gln1049=)
n.5682A=
c.1869+1460A= (n.1869+1460A=)
c.3314A= (p.Gln1105=)
c.3326A= (p.Gln1109=)
c.3299A= (p.Gln1100=)
c.3245A= (p.Gln1082=)
c.2645A= (p.Gln882=)
c.3593A= (p.Gln1198=)
c.3590A= (p.Gln1197=)
c.3509A= (p.Gln1170=)
c.3440A= (p.Gln1147=)
c.3308A= (p.Gln1103=)
c.3176A= (p.Gln1059=)
20g.32436041A>CCA408562830ASXL1c.3329A>C (p.Gln1110Pro)
c.3146A>C (p.Gln1049Pro)
n.5682A>C
c.1869+1460A>C (n.1869+1460A>C)
c.3314A>C (p.Gln1105Pro)
c.3326A>C (p.Gln1109Pro)
c.3299A>C (p.Gln1100Pro)
c.3245A>C (p.Gln1082Pro)
c.2645A>C (p.Gln882Pro)
c.3593A>C (p.Gln1198Pro)
c.3590A>C (p.Gln1197Pro)
c.3509A>C (p.Gln1170Pro)
c.3440A>C (p.Gln1147Pro)
c.3308A>C (p.Gln1103Pro)
c.3176A>C (p.Gln1059Pro)
20g.32436041A>GCA408562829ASXL1c.3329A>G (p.Gln1110Arg)
c.3146A>G (p.Gln1049Arg)
n.5682A>G
c.1869+1460A>G (n.1869+1460A>G)
c.3314A>G (p.Gln1105Arg)
c.3326A>G (p.Gln1109Arg)
c.3299A>G (p.Gln1100Arg)
c.3245A>G (p.Gln1082Arg)
c.2645A>G (p.Gln882Arg)
c.3593A>G (p.Gln1198Arg)
c.3590A>G (p.Gln1197Arg)
c.3509A>G (p.Gln1170Arg)
c.3440A>G (p.Gln1147Arg)
c.3308A>G (p.Gln1103Arg)
c.3176A>G (p.Gln1059Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.32436041A>TCA408562831ASXL1c.3329A>T (p.Gln1110Leu)
c.3146A>T (p.Gln1049Leu)
n.5682A>T
c.1869+1460A>T (n.1869+1460A>T)
c.3314A>T (p.Gln1105Leu)
c.3326A>T (p.Gln1109Leu)
c.3299A>T (p.Gln1100Leu)
c.3245A>T (p.Gln1082Leu)
c.2645A>T (p.Gln882Leu)
c.3593A>T (p.Gln1198Leu)
c.3590A>T (p.Gln1197Leu)
c.3509A>T (p.Gln1170Leu)
c.3440A>T (p.Gln1147Leu)
c.3308A>T (p.Gln1103Leu)
c.3176A>T (p.Gln1059Leu)
20g.32436042G>ACA510467063ASXL1c.3330G>A (p.Gln1110=)
c.3147G>A (p.Gln1049=)
n.5683G>A
c.1869+1461G>A (n.1869+1461G>A)
c.3315G>A (p.Gln1105=)
c.3327G>A (p.Gln1109=)
c.3300G>A (p.Gln1100=)
c.3246G>A (p.Gln1082=)
c.2646G>A (p.Gln882=)
c.3594G>A (p.Gln1198=)
c.3591G>A (p.Gln1197=)
c.3510G>A (p.Gln1170=)
c.3441G>A (p.Gln1147=)
c.3309G>A (p.Gln1103=)
c.3177G>A (p.Gln1059=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436042G>CCA408562832ASXL1c.3330G>C (p.Gln1110His)
c.3147G>C (p.Gln1049His)
n.5683G>C
c.1869+1461G>C (n.1869+1461G>C)
c.3315G>C (p.Gln1105His)
c.3327G>C (p.Gln1109His)
c.3300G>C (p.Gln1100His)
c.3246G>C (p.Gln1082His)
c.2646G>C (p.Gln882His)
c.3594G>C (p.Gln1198His)
c.3591G>C (p.Gln1197His)
c.3510G>C (p.Gln1170His)
c.3441G>C (p.Gln1147His)
c.3309G>C (p.Gln1103His)
c.3177G>C (p.Gln1059His)
20g.32436042G=CA2360293508ASXL1c.3330G= (p.Gln1110=)
c.3147G= (p.Gln1049=)
n.5683G=
c.1869+1461G= (n.1869+1461G=)
c.3315G= (p.Gln1105=)
c.3327G= (p.Gln1109=)
c.3300G= (p.Gln1100=)
c.3246G= (p.Gln1082=)
c.2646G= (p.Gln882=)
c.3594G= (p.Gln1198=)
c.3591G= (p.Gln1197=)
c.3510G= (p.Gln1170=)
c.3441G= (p.Gln1147=)
c.3309G= (p.Gln1103=)
c.3177G= (p.Gln1059=)
20g.32436042G>TCA408562833ASXL1c.3330G>T (p.Gln1110His)
c.3147G>T (p.Gln1049His)
n.5683G>T
c.1869+1461G>T (n.1869+1461G>T)
c.3315G>T (p.Gln1105His)
c.3327G>T (p.Gln1109His)
c.3300G>T (p.Gln1100His)
c.3246G>T (p.Gln1082His)
c.2646G>T (p.Gln882His)
c.3594G>T (p.Gln1198His)
c.3591G>T (p.Gln1197His)
c.3510G>T (p.Gln1170His)
c.3441G>T (p.Gln1147His)
c.3309G>T (p.Gln1103His)
c.3177G>T (p.Gln1059His)
20g.32436043T>ACA408562834ASXL1c.3331T>A (p.Leu1111Met)
c.3148T>A (p.Leu1050Met)
n.5684T>A
c.1869+1462T>A (n.1869+1462T>A)
c.3316T>A (p.Leu1106Met)
c.3328T>A (p.Leu1110Met)
c.3301T>A (p.Leu1101Met)
c.3247T>A (p.Leu1083Met)
c.2647T>A (p.Leu883Met)
c.3595T>A (p.Leu1199Met)
c.3592T>A (p.Leu1198Met)
c.3511T>A (p.Leu1171Met)
c.3442T>A (p.Leu1148Met)
c.3310T>A (p.Leu1104Met)
c.3178T>A (p.Leu1060Met)
20g.32436043T>CCA510467064ASXL1c.3331T>C (p.Leu1111=)
c.3148T>C (p.Leu1050=)
n.5684T>C
c.1869+1462T>C (n.1869+1462T>C)
c.3316T>C (p.Leu1106=)
c.3328T>C (p.Leu1110=)
c.3301T>C (p.Leu1101=)
c.3247T>C (p.Leu1083=)
c.2647T>C (p.Leu883=)
c.3595T>C (p.Leu1199=)
c.3592T>C (p.Leu1198=)
c.3511T>C (p.Leu1171=)
c.3442T>C (p.Leu1148=)
c.3310T>C (p.Leu1104=)
c.3178T>C (p.Leu1060=)
20g.32436043T>GCA408562835ASXL1c.3331T>G (p.Leu1111Val)
c.3148T>G (p.Leu1050Val)
n.5684T>G
c.1869+1462T>G (n.1869+1462T>G)
c.3316T>G (p.Leu1106Val)
c.3328T>G (p.Leu1110Val)
c.3301T>G (p.Leu1101Val)
c.3247T>G (p.Leu1083Val)
c.2647T>G (p.Leu883Val)
c.3595T>G (p.Leu1199Val)
c.3592T>G (p.Leu1198Val)
c.3511T>G (p.Leu1171Val)
c.3442T>G (p.Leu1148Val)
c.3310T>G (p.Leu1104Val)
c.3178T>G (p.Leu1060Val)
20g.32436044T>ACA408562836ASXL1c.3332T>A (p.Leu1111Ter)
c.3149T>A (p.Leu1050Ter)
n.5685T>A
c.1869+1463T>A (n.1869+1463T>A)
c.3317T>A (p.Leu1106Ter)
c.3329T>A (p.Leu1110Ter)
c.3302T>A (p.Leu1101Ter)
c.3248T>A (p.Leu1083Ter)
c.2648T>A (p.Leu883Ter)
c.3596T>A (p.Leu1199Ter)
c.3593T>A (p.Leu1198Ter)
c.3512T>A (p.Leu1171Ter)
c.3443T>A (p.Leu1148Ter)
c.3311T>A (p.Leu1104Ter)
c.3179T>A (p.Leu1060Ter)
20g.32436044T>CCA408562838ASXL1c.3332T>C (p.Leu1111Ser)
c.3149T>C (p.Leu1050Ser)
n.5685T>C
c.1869+1463T>C (n.1869+1463T>C)
c.3317T>C (p.Leu1106Ser)
c.3329T>C (p.Leu1110Ser)
c.3302T>C (p.Leu1101Ser)
c.3248T>C (p.Leu1083Ser)
c.2648T>C (p.Leu883Ser)
c.3596T>C (p.Leu1199Ser)
c.3593T>C (p.Leu1198Ser)
c.3512T>C (p.Leu1171Ser)
c.3443T>C (p.Leu1148Ser)
c.3311T>C (p.Leu1104Ser)
c.3179T>C (p.Leu1060Ser)
20g.32436044T>GCA408562837ASXL1c.3332T>G (p.Leu1111Trp)
c.3149T>G (p.Leu1050Trp)
n.5685T>G
c.1869+1463T>G (n.1869+1463T>G)
c.3317T>G (p.Leu1106Trp)
c.3329T>G (p.Leu1110Trp)
c.3302T>G (p.Leu1101Trp)
c.3248T>G (p.Leu1083Trp)
c.2648T>G (p.Leu883Trp)
c.3596T>G (p.Leu1199Trp)
c.3593T>G (p.Leu1198Trp)
c.3512T>G (p.Leu1171Trp)
c.3443T>G (p.Leu1148Trp)
c.3311T>G (p.Leu1104Trp)
c.3179T>G (p.Leu1060Trp)
20g.32436045G>ACA510467070ASXL1c.3333G>A (p.Leu1111=)
c.3150G>A (p.Leu1050=)
n.5686G>A
c.1869+1464G>A (n.1869+1464G>A)
c.3318G>A (p.Leu1106=)
c.3330G>A (p.Leu1110=)
c.3303G>A (p.Leu1101=)
c.3249G>A (p.Leu1083=)
c.2649G>A (p.Leu883=)
c.3597G>A (p.Leu1199=)
c.3594G>A (p.Leu1198=)
c.3513G>A (p.Leu1171=)
c.3444G>A (p.Leu1148=)
c.3312G>A (p.Leu1104=)
c.3180G>A (p.Leu1060=)
20g.32436045G>CCA408562839ASXL1c.3333G>C (p.Leu1111Phe)
c.3150G>C (p.Leu1050Phe)
n.5686G>C
c.1869+1464G>C (n.1869+1464G>C)
c.3318G>C (p.Leu1106Phe)
c.3330G>C (p.Leu1110Phe)
c.3303G>C (p.Leu1101Phe)
c.3249G>C (p.Leu1083Phe)
c.2649G>C (p.Leu883Phe)
c.3597G>C (p.Leu1199Phe)
c.3594G>C (p.Leu1198Phe)
c.3513G>C (p.Leu1171Phe)
c.3444G>C (p.Leu1148Phe)
c.3312G>C (p.Leu1104Phe)
c.3180G>C (p.Leu1060Phe)
20g.32436045G>TCA408562840ASXL1c.3333G>T (p.Leu1111Phe)
c.3150G>T (p.Leu1050Phe)
n.5686G>T
c.1869+1464G>T (n.1869+1464G>T)
c.3318G>T (p.Leu1106Phe)
c.3330G>T (p.Leu1110Phe)
c.3303G>T (p.Leu1101Phe)
c.3249G>T (p.Leu1083Phe)
c.2649G>T (p.Leu883Phe)
c.3597G>T (p.Leu1199Phe)
c.3594G>T (p.Leu1198Phe)
c.3513G>T (p.Leu1171Phe)
c.3444G>T (p.Leu1148Phe)
c.3312G>T (p.Leu1104Phe)
c.3180G>T (p.Leu1060Phe)
20g.32436046C>ACA9808797ASXL1c.3334C>A (p.Leu1112Met)
c.3151C>A (p.Leu1051Met)
n.5687C>A
c.1869+1465C>A (n.1869+1465C>A)
c.3319C>A (p.Leu1107Met)
c.3331C>A (p.Leu1111Met)
c.3304C>A (p.Leu1102Met)
c.3250C>A (p.Leu1084Met)
c.2650C>A (p.Leu884Met)
c.3598C>A (p.Leu1200Met)
c.3595C>A (p.Leu1199Met)
c.3514C>A (p.Leu1172Met)
c.3445C>A (p.Leu1149Met)
c.3313C>A (p.Leu1105Met)
c.3181C>A (p.Leu1061Met)
 dbSNP ExAC gnomAD v2
20g.32436046C=CA2360293509ASXL1c.3334C= (p.Leu1112=)
c.3151C= (p.Leu1051=)
n.5687C=
c.1869+1465C= (n.1869+1465C=)
c.3319C= (p.Leu1107=)
c.3331C= (p.Leu1111=)
c.3304C= (p.Leu1102=)
c.3250C= (p.Leu1084=)
c.2650C= (p.Leu884=)
c.3598C= (p.Leu1200=)
c.3595C= (p.Leu1199=)
c.3514C= (p.Leu1172=)
c.3445C= (p.Leu1149=)
c.3313C= (p.Leu1105=)
c.3181C= (p.Leu1061=)
20g.32436046C>GCA408562841ASXL1c.3334C>G (p.Leu1112Val)
c.3151C>G (p.Leu1051Val)
n.5687C>G
c.1869+1465C>G (n.1869+1465C>G)
c.3319C>G (p.Leu1107Val)
c.3331C>G (p.Leu1111Val)
c.3304C>G (p.Leu1102Val)
c.3250C>G (p.Leu1084Val)
c.2650C>G (p.Leu884Val)
c.3598C>G (p.Leu1200Val)
c.3595C>G (p.Leu1199Val)
c.3514C>G (p.Leu1172Val)
c.3445C>G (p.Leu1149Val)
c.3313C>G (p.Leu1105Val)
c.3181C>G (p.Leu1061Val)
20g.32436046C>TCA510467075ASXL1c.3334C>T (p.Leu1112=)
c.3151C>T (p.Leu1051=)
n.5687C>T
c.1869+1465C>T (n.1869+1465C>T)
c.3319C>T (p.Leu1107=)
c.3331C>T (p.Leu1111=)
c.3304C>T (p.Leu1102=)
c.3250C>T (p.Leu1084=)
c.2650C>T (p.Leu884=)
c.3598C>T (p.Leu1200=)
c.3595C>T (p.Leu1199=)
c.3514C>T (p.Leu1172=)
c.3445C>T (p.Leu1149=)
c.3313C>T (p.Leu1105=)
c.3181C>T (p.Leu1061=)
20g.32436047T>ACA408562842ASXL1c.3335T>A (p.Leu1112Gln)
c.3152T>A (p.Leu1051Gln)
n.5688T>A
c.1869+1466T>A (n.1869+1466T>A)
c.3320T>A (p.Leu1107Gln)
c.3332T>A (p.Leu1111Gln)
c.3305T>A (p.Leu1102Gln)
c.3251T>A (p.Leu1084Gln)
c.2651T>A (p.Leu884Gln)
c.3599T>A (p.Leu1200Gln)
c.3596T>A (p.Leu1199Gln)
c.3515T>A (p.Leu1172Gln)
c.3446T>A (p.Leu1149Gln)
c.3314T>A (p.Leu1105Gln)
c.3182T>A (p.Leu1061Gln)
20g.32436047T>CCA408562843ASXL1c.3335T>C (p.Leu1112Pro)
c.3152T>C (p.Leu1051Pro)
n.5688T>C
c.1869+1466T>C (n.1869+1466T>C)
c.3320T>C (p.Leu1107Pro)
c.3332T>C (p.Leu1111Pro)
c.3305T>C (p.Leu1102Pro)
c.3251T>C (p.Leu1084Pro)
c.2651T>C (p.Leu884Pro)
c.3599T>C (p.Leu1200Pro)
c.3596T>C (p.Leu1199Pro)
c.3515T>C (p.Leu1172Pro)
c.3446T>C (p.Leu1149Pro)
c.3314T>C (p.Leu1105Pro)
c.3182T>C (p.Leu1061Pro)
20g.32436047T>GCA408562844ASXL1c.3335T>G (p.Leu1112Arg)
c.3152T>G (p.Leu1051Arg)
n.5688T>G
c.1869+1466T>G (n.1869+1466T>G)
c.3320T>G (p.Leu1107Arg)
c.3332T>G (p.Leu1111Arg)
c.3305T>G (p.Leu1102Arg)
c.3251T>G (p.Leu1084Arg)
c.2651T>G (p.Leu884Arg)
c.3599T>G (p.Leu1200Arg)
c.3596T>G (p.Leu1199Arg)
c.3515T>G (p.Leu1172Arg)
c.3446T>G (p.Leu1149Arg)
c.3314T>G (p.Leu1105Arg)
c.3182T>G (p.Leu1061Arg)
20g.32436048G>ACA510467080ASXL1c.3336G>A (p.Leu1112=)
c.3153G>A (p.Leu1051=)
n.5689G>A
c.1869+1467G>A (n.1869+1467G>A)
c.3321G>A (p.Leu1107=)
c.3333G>A (p.Leu1111=)
c.3306G>A (p.Leu1102=)
c.3252G>A (p.Leu1084=)
c.2652G>A (p.Leu884=)
c.3600G>A (p.Leu1200=)
c.3597G>A (p.Leu1199=)
c.3516G>A (p.Leu1172=)
c.3447G>A (p.Leu1149=)
c.3315G>A (p.Leu1105=)
c.3183G>A (p.Leu1061=)
 ClinVar dbSNP
20g.32436048G>CCA510467082ASXL1c.3336G>C (p.Leu1112=)
c.3153G>C (p.Leu1051=)
n.5689G>C
c.1869+1467G>C (n.1869+1467G>C)
c.3321G>C (p.Leu1107=)
c.3333G>C (p.Leu1111=)
c.3306G>C (p.Leu1102=)
c.3252G>C (p.Leu1084=)
c.2652G>C (p.Leu884=)
c.3600G>C (p.Leu1200=)
c.3597G>C (p.Leu1199=)
c.3516G>C (p.Leu1172=)
c.3447G>C (p.Leu1149=)
c.3315G>C (p.Leu1105=)
c.3183G>C (p.Leu1061=)
20g.32436048G=CA2360293510ASXL1c.3336G= (p.Leu1112=)
c.3153G= (p.Leu1051=)
n.5689G=
c.1869+1467G= (n.1869+1467G=)
c.3321G= (p.Leu1107=)
c.3333G= (p.Leu1111=)
c.3306G= (p.Leu1102=)
c.3252G= (p.Leu1084=)
c.2652G= (p.Leu884=)
c.3600G= (p.Leu1200=)
c.3597G= (p.Leu1199=)
c.3516G= (p.Leu1172=)
c.3447G= (p.Leu1149=)
c.3315G= (p.Leu1105=)
c.3183G= (p.Leu1061=)
20g.32436048G>TCA510467088ASXL1c.3336G>T (p.Leu1112=)
c.3153G>T (p.Leu1051=)
n.5689G>T
c.1869+1467G>T (n.1869+1467G>T)
c.3321G>T (p.Leu1107=)
c.3333G>T (p.Leu1111=)
c.3306G>T (p.Leu1102=)
c.3252G>T (p.Leu1084=)
c.2652G>T (p.Leu884=)
c.3600G>T (p.Leu1200=)
c.3597G>T (p.Leu1199=)
c.3516G>T (p.Leu1172=)
c.3447G>T (p.Leu1149=)
c.3315G>T (p.Leu1105=)
c.3183G>T (p.Leu1061=)
 dbSNP
20g.32436049C>ACA408562845ASXL1c.3337C>A (p.Gln1113Lys)
c.3154C>A (p.Gln1052Lys)
n.5690C>A
c.1869+1468C>A (n.1869+1468C>A)
c.3322C>A (p.Gln1108Lys)
c.3334C>A (p.Gln1112Lys)
c.3307C>A (p.Gln1103Lys)
c.3253C>A (p.Gln1085Lys)
c.2653C>A (p.Gln885Lys)
c.3601C>A (p.Gln1201Lys)
c.3598C>A (p.Gln1200Lys)
c.3517C>A (p.Gln1173Lys)
c.3448C>A (p.Gln1150Lys)
c.3316C>A (p.Gln1106Lys)
c.3184C>A (p.Gln1062Lys)
 dbSNP
20g.32436049C>GCA408562846ASXL1c.3337C>G (p.Gln1113Glu)
c.3154C>G (p.Gln1052Glu)
n.5690C>G
c.1869+1468C>G (n.1869+1468C>G)
c.3322C>G (p.Gln1108Glu)
c.3334C>G (p.Gln1112Glu)
c.3307C>G (p.Gln1103Glu)
c.3253C>G (p.Gln1085Glu)
c.2653C>G (p.Gln885Glu)
c.3601C>G (p.Gln1201Glu)
c.3598C>G (p.Gln1200Glu)
c.3517C>G (p.Gln1173Glu)
c.3448C>G (p.Gln1150Glu)
c.3316C>G (p.Gln1106Glu)
c.3184C>G (p.Gln1062Glu)
20g.32436049C>TCA408562847ASXL1c.3337C>T (p.Gln1113Ter)
c.3154C>T (p.Gln1052Ter)
n.5690C>T
c.1869+1468C>T (n.1869+1468C>T)
c.3322C>T (p.Gln1108Ter)
c.3334C>T (p.Gln1112Ter)
c.3307C>T (p.Gln1103Ter)
c.3253C>T (p.Gln1085Ter)
c.2653C>T (p.Gln885Ter)
c.3601C>T (p.Gln1201Ter)
c.3598C>T (p.Gln1200Ter)
c.3517C>T (p.Gln1173Ter)
c.3448C>T (p.Gln1150Ter)
c.3316C>T (p.Gln1106Ter)
c.3184C>T (p.Gln1062Ter)
 dbSNP
20g.32436050A>CCA408562848ASXL1c.3338A>C (p.Gln1113Pro)
c.3155A>C (p.Gln1052Pro)
n.5691A>C
c.1869+1469A>C (n.1869+1469A>C)
c.3323A>C (p.Gln1108Pro)
c.3335A>C (p.Gln1112Pro)
c.3308A>C (p.Gln1103Pro)
c.3254A>C (p.Gln1085Pro)
c.2654A>C (p.Gln885Pro)
c.3602A>C (p.Gln1201Pro)
c.3599A>C (p.Gln1200Pro)
c.3518A>C (p.Gln1173Pro)
c.3449A>C (p.Gln1150Pro)
c.3317A>C (p.Gln1106Pro)
c.3185A>C (p.Gln1062Pro)
20g.32436050A>GCA408562849ASXL1c.3338A>G (p.Gln1113Arg)
c.3155A>G (p.Gln1052Arg)
n.5691A>G
c.1869+1469A>G (n.1869+1469A>G)
c.3323A>G (p.Gln1108Arg)
c.3335A>G (p.Gln1112Arg)
c.3308A>G (p.Gln1103Arg)
c.3254A>G (p.Gln1085Arg)
c.2654A>G (p.Gln885Arg)
c.3602A>G (p.Gln1201Arg)
c.3599A>G (p.Gln1200Arg)
c.3518A>G (p.Gln1173Arg)
c.3449A>G (p.Gln1150Arg)
c.3317A>G (p.Gln1106Arg)
c.3185A>G (p.Gln1062Arg)
 gnomAD v4
20g.32436050A>TCA408562850ASXL1c.3338A>T (p.Gln1113Leu)
c.3155A>T (p.Gln1052Leu)
n.5691A>T
c.1869+1469A>T (n.1869+1469A>T)
c.3323A>T (p.Gln1108Leu)
c.3335A>T (p.Gln1112Leu)
c.3308A>T (p.Gln1103Leu)
c.3254A>T (p.Gln1085Leu)
c.2654A>T (p.Gln885Leu)
c.3602A>T (p.Gln1201Leu)
c.3599A>T (p.Gln1200Leu)
c.3518A>T (p.Gln1173Leu)
c.3449A>T (p.Gln1150Leu)
c.3317A>T (p.Gln1106Leu)
c.3185A>T (p.Gln1062Leu)
20g.32436051G>ACA510467094ASXL1c.3339G>A (p.Gln1113=)
c.3156G>A (p.Gln1052=)
n.5692G>A
c.1869+1470G>A (n.1869+1470G>A)
c.3324G>A (p.Gln1108=)
c.3336G>A (p.Gln1112=)
c.3309G>A (p.Gln1103=)
c.3255G>A (p.Gln1085=)
c.2655G>A (p.Gln885=)
c.3603G>A (p.Gln1201=)
c.3600G>A (p.Gln1200=)
c.3519G>A (p.Gln1173=)
c.3450G>A (p.Gln1150=)
c.3318G>A (p.Gln1106=)
c.3186G>A (p.Gln1062=)
20g.32436051G>CCA408562851ASXL1c.3339G>C (p.Gln1113His)
c.3156G>C (p.Gln1052His)
n.5692G>C
c.1869+1470G>C (n.1869+1470G>C)
c.3324G>C (p.Gln1108His)
c.3336G>C (p.Gln1112His)
c.3309G>C (p.Gln1103His)
c.3255G>C (p.Gln1085His)
c.2655G>C (p.Gln885His)
c.3603G>C (p.Gln1201His)
c.3600G>C (p.Gln1200His)
c.3519G>C (p.Gln1173His)
c.3450G>C (p.Gln1150His)
c.3318G>C (p.Gln1106His)
c.3186G>C (p.Gln1062His)
20g.32436051G>TCA408562852ASXL1c.3339G>T (p.Gln1113His)
c.3156G>T (p.Gln1052His)
n.5692G>T
c.1869+1470G>T (n.1869+1470G>T)
c.3324G>T (p.Gln1108His)
c.3336G>T (p.Gln1112His)
c.3309G>T (p.Gln1103His)
c.3255G>T (p.Gln1085His)
c.2655G>T (p.Gln885His)
c.3603G>T (p.Gln1201His)
c.3600G>T (p.Gln1200His)
c.3519G>T (p.Gln1173His)
c.3450G>T (p.Gln1150His)
c.3318G>T (p.Gln1106His)
c.3186G>T (p.Gln1062His)
20g.32436052G>ACA408562855ASXL1c.3340G>A (p.Gly1114Ser)
c.3157G>A (p.Gly1053Ser)
n.5693G>A
c.1869+1471G>A (n.1869+1471G>A)
c.3325G>A (p.Gly1109Ser)
c.3337G>A (p.Gly1113Ser)
c.3310G>A (p.Gly1104Ser)
c.3256G>A (p.Gly1086Ser)
c.2656G>A (p.Gly886Ser)
c.3604G>A (p.Gly1202Ser)
c.3601G>A (p.Gly1201Ser)
c.3520G>A (p.Gly1174Ser)
c.3451G>A (p.Gly1151Ser)
c.3319G>A (p.Gly1107Ser)
c.3187G>A (p.Gly1063Ser)
20g.32436052G>CCA408562854ASXL1c.3340G>C (p.Gly1114Arg)
c.3157G>C (p.Gly1053Arg)
n.5693G>C
c.1869+1471G>C (n.1869+1471G>C)
c.3325G>C (p.Gly1109Arg)
c.3337G>C (p.Gly1113Arg)
c.3310G>C (p.Gly1104Arg)
c.3256G>C (p.Gly1086Arg)
c.2656G>C (p.Gly886Arg)
c.3604G>C (p.Gly1202Arg)
c.3601G>C (p.Gly1201Arg)
c.3520G>C (p.Gly1174Arg)
c.3451G>C (p.Gly1151Arg)
c.3319G>C (p.Gly1107Arg)
c.3187G>C (p.Gly1063Arg)
20g.32436052G>TCA408562853ASXL1c.3340G>T (p.Gly1114Cys)
c.3157G>T (p.Gly1053Cys)
n.5693G>T
c.1869+1471G>T (n.1869+1471G>T)
c.3325G>T (p.Gly1109Cys)
c.3337G>T (p.Gly1113Cys)
c.3310G>T (p.Gly1104Cys)
c.3256G>T (p.Gly1086Cys)
c.2656G>T (p.Gly886Cys)
c.3604G>T (p.Gly1202Cys)
c.3601G>T (p.Gly1201Cys)
c.3520G>T (p.Gly1174Cys)
c.3451G>T (p.Gly1151Cys)
c.3319G>T (p.Gly1107Cys)
c.3187G>T (p.Gly1063Cys)
20g.32436053G>ACA408562856ASXL1c.3341G>A (p.Gly1114Asp)
c.3158G>A (p.Gly1053Asp)
n.5694G>A
c.1869+1472G>A (n.1869+1472G>A)
c.3326G>A (p.Gly1109Asp)
c.3338G>A (p.Gly1113Asp)
c.3311G>A (p.Gly1104Asp)
c.3257G>A (p.Gly1086Asp)
c.2657G>A (p.Gly886Asp)
c.3605G>A (p.Gly1202Asp)
c.3602G>A (p.Gly1201Asp)
c.3521G>A (p.Gly1174Asp)
c.3452G>A (p.Gly1151Asp)
c.3320G>A (p.Gly1107Asp)
c.3188G>A (p.Gly1063Asp)
 dbSNP
20g.32436053G>CCA408562857ASXL1c.3341G>C (p.Gly1114Ala)
c.3158G>C (p.Gly1053Ala)
n.5694G>C
c.1869+1472G>C (n.1869+1472G>C)
c.3326G>C (p.Gly1109Ala)
c.3338G>C (p.Gly1113Ala)
c.3311G>C (p.Gly1104Ala)
c.3257G>C (p.Gly1086Ala)
c.2657G>C (p.Gly886Ala)
c.3605G>C (p.Gly1202Ala)
c.3602G>C (p.Gly1201Ala)
c.3521G>C (p.Gly1174Ala)
c.3452G>C (p.Gly1151Ala)
c.3320G>C (p.Gly1107Ala)
c.3188G>C (p.Gly1063Ala)
20g.32436053G>TCA408562858ASXL1c.3341G>T (p.Gly1114Val)
c.3158G>T (p.Gly1053Val)
n.5694G>T
c.1869+1472G>T (n.1869+1472G>T)
c.3326G>T (p.Gly1109Val)
c.3338G>T (p.Gly1113Val)
c.3311G>T (p.Gly1104Val)
c.3257G>T (p.Gly1086Val)
c.2657G>T (p.Gly886Val)
c.3605G>T (p.Gly1202Val)
c.3602G>T (p.Gly1201Val)
c.3521G>T (p.Gly1174Val)
c.3452G>T (p.Gly1151Val)
c.3320G>T (p.Gly1107Val)
c.3188G>T (p.Gly1063Val)
20g.32436054T>ACA510467101ASXL1c.3342T>A (p.Gly1114=)
c.3159T>A (p.Gly1053=)
n.5695T>A
c.1869+1473T>A (n.1869+1473T>A)
c.3327T>A (p.Gly1109=)
c.3339T>A (p.Gly1113=)
c.3312T>A (p.Gly1104=)
c.3258T>A (p.Gly1086=)
c.2658T>A (p.Gly886=)
c.3606T>A (p.Gly1202=)
c.3603T>A (p.Gly1201=)
c.3522T>A (p.Gly1174=)
c.3453T>A (p.Gly1151=)
c.3321T>A (p.Gly1107=)
c.3189T>A (p.Gly1063=)
20g.32436054T>CCA510467102ASXL1c.3342T>C (p.Gly1114=)
c.3159T>C (p.Gly1053=)
n.5695T>C
c.1869+1473T>C (n.1869+1473T>C)
c.3327T>C (p.Gly1109=)
c.3339T>C (p.Gly1113=)
c.3312T>C (p.Gly1104=)
c.3258T>C (p.Gly1086=)
c.2658T>C (p.Gly886=)
c.3606T>C (p.Gly1202=)
c.3603T>C (p.Gly1201=)
c.3522T>C (p.Gly1174=)
c.3453T>C (p.Gly1151=)
c.3321T>C (p.Gly1107=)
c.3189T>C (p.Gly1063=)
20g.32436054T>GCA510467104ASXL1c.3342T>G (p.Gly1114=)
c.3159T>G (p.Gly1053=)
n.5695T>G
c.1869+1473T>G (n.1869+1473T>G)
c.3327T>G (p.Gly1109=)
c.3339T>G (p.Gly1113=)
c.3312T>G (p.Gly1104=)
c.3258T>G (p.Gly1086=)
c.2658T>G (p.Gly886=)
c.3606T>G (p.Gly1202=)
c.3603T>G (p.Gly1201=)
c.3522T>G (p.Gly1174=)
c.3453T>G (p.Gly1151=)
c.3321T>G (p.Gly1107=)
c.3189T>G (p.Gly1063=)
 dbSNP
20g.32436057_32436067delCA2652401188ASXL1c.3345_3355del (p.Ser1115ArgfsTer10)
c.3162_3172del (p.Ser1054ArgfsTer10)
n.5698_5708del
c.1869+1476_1869+1486del (n.1869+1476_1869+1486del)
c.3330_3340del (p.Ser1110ArgfsTer10)
c.3342_3352del (p.Ser1114ArgfsTer10)
c.3315_3325del (p.Ser1105ArgfsTer10)
c.3261_3271del (p.Ser1087ArgfsTer10)
c.2661_2671del (p.Ser887ArgfsTer10)
c.3609_3619del (p.Ser1203ArgfsTer10)
c.3606_3616del (p.Ser1202ArgfsTer10)
c.3525_3535del (p.Ser1175ArgfsTer10)
c.3456_3466del (p.Ser1152ArgfsTer10)
c.3324_3334del (p.Ser1108ArgfsTer10)
c.3192_3202del (p.Ser1064ArgfsTer10)
 gnomAD v4
20g.32436055A>CCA408562859ASXL1c.3343A>C (p.Ser1115Arg)
c.3160A>C (p.Ser1054Arg)
n.5696A>C
c.1869+1474A>C (n.1869+1474A>C)
c.3328A>C (p.Ser1110Arg)
c.3340A>C (p.Ser1114Arg)
c.3313A>C (p.Ser1105Arg)
c.3259A>C (p.Ser1087Arg)
c.2659A>C (p.Ser887Arg)
c.3607A>C (p.Ser1203Arg)
c.3604A>C (p.Ser1202Arg)
c.3523A>C (p.Ser1175Arg)
c.3454A>C (p.Ser1152Arg)
c.3322A>C (p.Ser1108Arg)
c.3190A>C (p.Ser1064Arg)
20g.32436055A>GCA408562860ASXL1c.3343A>G (p.Ser1115Gly)
c.3160A>G (p.Ser1054Gly)
n.5696A>G
c.1869+1474A>G (n.1869+1474A>G)
c.3328A>G (p.Ser1110Gly)
c.3340A>G (p.Ser1114Gly)
c.3313A>G (p.Ser1105Gly)
c.3259A>G (p.Ser1087Gly)
c.2659A>G (p.Ser887Gly)
c.3607A>G (p.Ser1203Gly)
c.3604A>G (p.Ser1202Gly)
c.3523A>G (p.Ser1175Gly)
c.3454A>G (p.Ser1152Gly)
c.3322A>G (p.Ser1108Gly)
c.3190A>G (p.Ser1064Gly)
 COSMIC
20g.32436055A>TCA408562861ASXL1c.3343A>T (p.Ser1115Cys)
c.3160A>T (p.Ser1054Cys)
n.5696A>T
c.1869+1474A>T (n.1869+1474A>T)
c.3328A>T (p.Ser1110Cys)
c.3340A>T (p.Ser1114Cys)
c.3313A>T (p.Ser1105Cys)
c.3259A>T (p.Ser1087Cys)
c.2659A>T (p.Ser887Cys)
c.3607A>T (p.Ser1203Cys)
c.3604A>T (p.Ser1202Cys)
c.3523A>T (p.Ser1175Cys)
c.3454A>T (p.Ser1152Cys)
c.3322A>T (p.Ser1108Cys)
c.3190A>T (p.Ser1064Cys)
20g.32436056G>ACA408562862ASXL1c.3344G>A (p.Ser1115Asn)
c.3161G>A (p.Ser1054Asn)
n.5697G>A
c.1869+1475G>A (n.1869+1475G>A)
c.3329G>A (p.Ser1110Asn)
c.3341G>A (p.Ser1114Asn)
c.3314G>A (p.Ser1105Asn)
c.3260G>A (p.Ser1087Asn)
c.2660G>A (p.Ser887Asn)
c.3608G>A (p.Ser1203Asn)
c.3605G>A (p.Ser1202Asn)
c.3524G>A (p.Ser1175Asn)
c.3455G>A (p.Ser1152Asn)
c.3323G>A (p.Ser1108Asn)
c.3191G>A (p.Ser1064Asn)
 dbSNP gnomAD v2 gnomAD v4
20g.32436056G>CCA408562863ASXL1c.3344G>C (p.Ser1115Thr)
c.3161G>C (p.Ser1054Thr)
n.5697G>C
c.1869+1475G>C (n.1869+1475G>C)
c.3329G>C (p.Ser1110Thr)
c.3341G>C (p.Ser1114Thr)
c.3314G>C (p.Ser1105Thr)
c.3260G>C (p.Ser1087Thr)
c.2660G>C (p.Ser887Thr)
c.3608G>C (p.Ser1203Thr)
c.3605G>C (p.Ser1202Thr)
c.3524G>C (p.Ser1175Thr)
c.3455G>C (p.Ser1152Thr)
c.3323G>C (p.Ser1108Thr)
c.3191G>C (p.Ser1064Thr)
20g.32436056G=CA2360293511ASXL1c.3344G= (p.Ser1115=)
c.3161G= (p.Ser1054=)
n.5697G=
c.1869+1475G= (n.1869+1475G=)
c.3329G= (p.Ser1110=)
c.3341G= (p.Ser1114=)
c.3314G= (p.Ser1105=)
c.3260G= (p.Ser1087=)
c.2660G= (p.Ser887=)
c.3608G= (p.Ser1203=)
c.3605G= (p.Ser1202=)
c.3524G= (p.Ser1175=)
c.3455G= (p.Ser1152=)
c.3323G= (p.Ser1108=)
c.3191G= (p.Ser1064=)
20g.32436056G>TCA408562864ASXL1c.3344G>T (p.Ser1115Ile)
c.3161G>T (p.Ser1054Ile)
n.5697G>T
c.1869+1475G>T (n.1869+1475G>T)
c.3329G>T (p.Ser1110Ile)
c.3341G>T (p.Ser1114Ile)
c.3314G>T (p.Ser1105Ile)
c.3260G>T (p.Ser1087Ile)
c.2660G>T (p.Ser887Ile)
c.3608G>T (p.Ser1203Ile)
c.3605G>T (p.Ser1202Ile)
c.3524G>T (p.Ser1175Ile)
c.3455G>T (p.Ser1152Ile)
c.3323G>T (p.Ser1108Ile)
c.3191G>T (p.Ser1064Ile)
20g.32436057C>ACA408562865ASXL1c.3345C>A (p.Ser1115Arg)
c.3162C>A (p.Ser1054Arg)
n.5698C>A
c.1869+1476C>A (n.1869+1476C>A)
c.3330C>A (p.Ser1110Arg)
c.3342C>A (p.Ser1114Arg)
c.3315C>A (p.Ser1105Arg)
c.3261C>A (p.Ser1087Arg)
c.2661C>A (p.Ser887Arg)
c.3609C>A (p.Ser1203Arg)
c.3606C>A (p.Ser1202Arg)
c.3525C>A (p.Ser1175Arg)
c.3456C>A (p.Ser1152Arg)
c.3324C>A (p.Ser1108Arg)
c.3192C>A (p.Ser1064Arg)
20g.32436057C=CA2360293512ASXL1c.3345C= (p.Ser1115=)
c.3162C= (p.Ser1054=)
n.5698C=
c.1869+1476C= (n.1869+1476C=)
c.3330C= (p.Ser1110=)
c.3342C= (p.Ser1114=)
c.3315C= (p.Ser1105=)
c.3261C= (p.Ser1087=)
c.2661C= (p.Ser887=)
c.3609C= (p.Ser1203=)
c.3606C= (p.Ser1202=)
c.3525C= (p.Ser1175=)
c.3456C= (p.Ser1152=)
c.3324C= (p.Ser1108=)
c.3192C= (p.Ser1064=)
20g.32436057C>GCA408562866ASXL1c.3345C>G (p.Ser1115Arg)
c.3162C>G (p.Ser1054Arg)
n.5698C>G
c.1869+1476C>G (n.1869+1476C>G)
c.3330C>G (p.Ser1110Arg)
c.3342C>G (p.Ser1114Arg)
c.3315C>G (p.Ser1105Arg)
c.3261C>G (p.Ser1087Arg)
c.2661C>G (p.Ser887Arg)
c.3609C>G (p.Ser1203Arg)
c.3606C>G (p.Ser1202Arg)
c.3525C>G (p.Ser1175Arg)
c.3456C>G (p.Ser1152Arg)
c.3324C>G (p.Ser1108Arg)
c.3192C>G (p.Ser1064Arg)
20g.32436057C>TCA510467110ASXL1c.3345C>T (p.Ser1115=)
c.3162C>T (p.Ser1054=)
n.5698C>T
c.1869+1476C>T (n.1869+1476C>T)
c.3330C>T (p.Ser1110=)
c.3342C>T (p.Ser1114=)
c.3315C>T (p.Ser1105=)
c.3261C>T (p.Ser1087=)
c.2661C>T (p.Ser887=)
c.3609C>T (p.Ser1203=)
c.3606C>T (p.Ser1202=)
c.3525C>T (p.Ser1175=)
c.3456C>T (p.Ser1152=)
c.3324C>T (p.Ser1108=)
c.3192C>T (p.Ser1064=)
 dbSNP
20g.32436058T>ACA408562867ASXL1c.3346T>A (p.Leu1116Met)
c.3163T>A (p.Leu1055Met)
n.5699T>A
c.1869+1477T>A (n.1869+1477T>A)
c.3331T>A (p.Leu1111Met)
c.3343T>A (p.Leu1115Met)
c.3316T>A (p.Leu1106Met)
c.3262T>A (p.Leu1088Met)
c.2662T>A (p.Leu888Met)
c.3610T>A (p.Leu1204Met)
c.3607T>A (p.Leu1203Met)
c.3526T>A (p.Leu1176Met)
c.3457T>A (p.Leu1153Met)
c.3325T>A (p.Leu1109Met)
c.3193T>A (p.Leu1065Met)
 dbSNP
20g.32436058T>CCA510467112ASXL1c.3346T>C (p.Leu1116=)
c.3163T>C (p.Leu1055=)
n.5699T>C
c.1869+1477T>C (n.1869+1477T>C)
c.3331T>C (p.Leu1111=)
c.3343T>C (p.Leu1115=)
c.3316T>C (p.Leu1106=)
c.3262T>C (p.Leu1088=)
c.2662T>C (p.Leu888=)
c.3610T>C (p.Leu1204=)
c.3607T>C (p.Leu1203=)
c.3526T>C (p.Leu1176=)
c.3457T>C (p.Leu1153=)
c.3325T>C (p.Leu1109=)
c.3193T>C (p.Leu1065=)
 gnomAD v4
20g.32436058T>GCA408562868ASXL1c.3346T>G (p.Leu1116Val)
c.3163T>G (p.Leu1055Val)
n.5699T>G
c.1869+1477T>G (n.1869+1477T>G)
c.3331T>G (p.Leu1111Val)
c.3343T>G (p.Leu1115Val)
c.3316T>G (p.Leu1106Val)
c.3262T>G (p.Leu1088Val)
c.2662T>G (p.Leu888Val)
c.3610T>G (p.Leu1204Val)
c.3607T>G (p.Leu1203Val)
c.3526T>G (p.Leu1176Val)
c.3457T>G (p.Leu1153Val)
c.3325T>G (p.Leu1109Val)
c.3193T>G (p.Leu1065Val)
20g.32436059T>ACA408562870ASXL1c.3347T>A (p.Leu1116Ter)
c.3164T>A (p.Leu1055Ter)
n.5700T>A
c.1869+1478T>A (n.1869+1478T>A)
c.3332T>A (p.Leu1111Ter)
c.3344T>A (p.Leu1115Ter)
c.3317T>A (p.Leu1106Ter)
c.3263T>A (p.Leu1088Ter)
c.2663T>A (p.Leu888Ter)
c.3611T>A (p.Leu1204Ter)
c.3608T>A (p.Leu1203Ter)
c.3527T>A (p.Leu1176Ter)
c.3458T>A (p.Leu1153Ter)
c.3326T>A (p.Leu1109Ter)
c.3194T>A (p.Leu1065Ter)
20g.32436059T>CCA408562871ASXL1c.3347T>C (p.Leu1116Ser)
c.3164T>C (p.Leu1055Ser)
n.5700T>C
c.1869+1478T>C (n.1869+1478T>C)
c.3332T>C (p.Leu1111Ser)
c.3344T>C (p.Leu1115Ser)
c.3317T>C (p.Leu1106Ser)
c.3263T>C (p.Leu1088Ser)
c.2663T>C (p.Leu888Ser)
c.3611T>C (p.Leu1204Ser)
c.3608T>C (p.Leu1203Ser)
c.3527T>C (p.Leu1176Ser)
c.3458T>C (p.Leu1153Ser)
c.3326T>C (p.Leu1109Ser)
c.3194T>C (p.Leu1065Ser)
20g.32436059T>GCA408562869ASXL1c.3347T>G (p.Leu1116Trp)
c.3164T>G (p.Leu1055Trp)
n.5700T>G
c.1869+1478T>G (n.1869+1478T>G)
c.3332T>G (p.Leu1111Trp)
c.3344T>G (p.Leu1115Trp)
c.3317T>G (p.Leu1106Trp)
c.3263T>G (p.Leu1088Trp)
c.2663T>G (p.Leu888Trp)
c.3611T>G (p.Leu1204Trp)
c.3608T>G (p.Leu1203Trp)
c.3527T>G (p.Leu1176Trp)
c.3458T>G (p.Leu1153Trp)
c.3326T>G (p.Leu1109Trp)
c.3194T>G (p.Leu1065Trp)
20g.32436060G>ACA9808798ASXL1c.3348G>A (p.Leu1116=)
c.3165G>A (p.Leu1055=)
n.5701G>A
c.1869+1479G>A (n.1869+1479G>A)
c.3333G>A (p.Leu1111=)
c.3345G>A (p.Leu1115=)
c.3318G>A (p.Leu1106=)
c.3264G>A (p.Leu1088=)
c.2664G>A (p.Leu888=)
c.3612G>A (p.Leu1204=)
c.3609G>A (p.Leu1203=)
c.3528G>A (p.Leu1176=)
c.3459G>A (p.Leu1153=)
c.3327G>A (p.Leu1109=)
c.3195G>A (p.Leu1065=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436060G>CCA408562872ASXL1c.3348G>C (p.Leu1116Phe)
c.3165G>C (p.Leu1055Phe)
n.5701G>C
c.1869+1479G>C (n.1869+1479G>C)
c.3333G>C (p.Leu1111Phe)
c.3345G>C (p.Leu1115Phe)
c.3318G>C (p.Leu1106Phe)
c.3264G>C (p.Leu1088Phe)
c.2664G>C (p.Leu888Phe)
c.3612G>C (p.Leu1204Phe)
c.3609G>C (p.Leu1203Phe)
c.3528G>C (p.Leu1176Phe)
c.3459G>C (p.Leu1153Phe)
c.3327G>C (p.Leu1109Phe)
c.3195G>C (p.Leu1065Phe)
20g.32436060G=CA2360293513ASXL1c.3348G= (p.Leu1116=)
c.3165G= (p.Leu1055=)
n.5701G=
c.1869+1479G= (n.1869+1479G=)
c.3333G= (p.Leu1111=)
c.3345G= (p.Leu1115=)
c.3318G= (p.Leu1106=)
c.3264G= (p.Leu1088=)
c.2664G= (p.Leu888=)
c.3612G= (p.Leu1204=)
c.3609G= (p.Leu1203=)
c.3528G= (p.Leu1176=)
c.3459G= (p.Leu1153=)
c.3327G= (p.Leu1109=)
c.3195G= (p.Leu1065=)
20g.32436060G>TCA408562873ASXL1c.3348G>T (p.Leu1116Phe)
c.3165G>T (p.Leu1055Phe)
n.5701G>T
c.1869+1479G>T (n.1869+1479G>T)
c.3333G>T (p.Leu1111Phe)
c.3345G>T (p.Leu1115Phe)
c.3318G>T (p.Leu1106Phe)
c.3264G>T (p.Leu1088Phe)
c.2664G>T (p.Leu888Phe)
c.3612G>T (p.Leu1204Phe)
c.3609G>T (p.Leu1203Phe)
c.3528G>T (p.Leu1176Phe)
c.3459G>T (p.Leu1153Phe)
c.3327G>T (p.Leu1109Phe)
c.3195G>T (p.Leu1065Phe)
 gnomAD v4
20g.32436061C>ACA408562874ASXL1c.3349C>A (p.Pro1117Thr)
c.3166C>A (p.Pro1056Thr)
n.5702C>A
c.1869+1480C>A (n.1869+1480C>A)
c.3334C>A (p.Pro1112Thr)
c.3346C>A (p.Pro1116Thr)
c.3319C>A (p.Pro1107Thr)
c.3265C>A (p.Pro1089Thr)
c.2665C>A (p.Pro889Thr)
c.3613C>A (p.Pro1205Thr)
c.3610C>A (p.Pro1204Thr)
c.3529C>A (p.Pro1177Thr)
c.3460C>A (p.Pro1154Thr)
c.3328C>A (p.Pro1110Thr)
c.3196C>A (p.Pro1066Thr)
 dbSNP gnomAD v4
20g.32436061C=CA2360293514ASXL1c.3349C= (p.Pro1117=)
c.3166C= (p.Pro1056=)
n.5702C=
c.1869+1480C= (n.1869+1480C=)
c.3334C= (p.Pro1112=)
c.3346C= (p.Pro1116=)
c.3319C= (p.Pro1107=)
c.3265C= (p.Pro1089=)
c.2665C= (p.Pro889=)
c.3613C= (p.Pro1205=)
c.3610C= (p.Pro1204=)
c.3529C= (p.Pro1177=)
c.3460C= (p.Pro1154=)
c.3328C= (p.Pro1110=)
c.3196C= (p.Pro1066=)
20g.32436061C>GCA408562875ASXL1c.3349C>G (p.Pro1117Ala)
c.3166C>G (p.Pro1056Ala)
n.5702C>G
c.1869+1480C>G (n.1869+1480C>G)
c.3334C>G (p.Pro1112Ala)
c.3346C>G (p.Pro1116Ala)
c.3319C>G (p.Pro1107Ala)
c.3265C>G (p.Pro1089Ala)
c.2665C>G (p.Pro889Ala)
c.3613C>G (p.Pro1205Ala)
c.3610C>G (p.Pro1204Ala)
c.3529C>G (p.Pro1177Ala)
c.3460C>G (p.Pro1154Ala)
c.3328C>G (p.Pro1110Ala)
c.3196C>G (p.Pro1066Ala)
20g.32436061C>TCA408562876ASXL1c.3349C>T (p.Pro1117Ser)
c.3166C>T (p.Pro1056Ser)
n.5702C>T
c.1869+1480C>T (n.1869+1480C>T)
c.3334C>T (p.Pro1112Ser)
c.3346C>T (p.Pro1116Ser)
c.3319C>T (p.Pro1107Ser)
c.3265C>T (p.Pro1089Ser)
c.2665C>T (p.Pro889Ser)
c.3613C>T (p.Pro1205Ser)
c.3610C>T (p.Pro1204Ser)
c.3529C>T (p.Pro1177Ser)
c.3460C>T (p.Pro1154Ser)
c.3328C>T (p.Pro1110Ser)
c.3196C>T (p.Pro1066Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.32436062C>ACA408562877ASXL1c.3350C>A (p.Pro1117His)
c.3167C>A (p.Pro1056His)
n.5703C>A
c.1869+1481C>A (n.1869+1481C>A)
c.3335C>A (p.Pro1112His)
c.3347C>A (p.Pro1116His)
c.3320C>A (p.Pro1107His)
c.3266C>A (p.Pro1089His)
c.2666C>A (p.Pro889His)
c.3614C>A (p.Pro1205His)
c.3611C>A (p.Pro1204His)
c.3530C>A (p.Pro1177His)
c.3461C>A (p.Pro1154His)
c.3329C>A (p.Pro1110His)
c.3197C>A (p.Pro1066His)
 dbSNP
20g.32436062C>GCA408562878ASXL1c.3350C>G (p.Pro1117Arg)
c.3167C>G (p.Pro1056Arg)
n.5703C>G
c.1869+1481C>G (n.1869+1481C>G)
c.3335C>G (p.Pro1112Arg)
c.3347C>G (p.Pro1116Arg)
c.3320C>G (p.Pro1107Arg)
c.3266C>G (p.Pro1089Arg)
c.2666C>G (p.Pro889Arg)
c.3614C>G (p.Pro1205Arg)
c.3611C>G (p.Pro1204Arg)
c.3530C>G (p.Pro1177Arg)
c.3461C>G (p.Pro1154Arg)
c.3329C>G (p.Pro1110Arg)
c.3197C>G (p.Pro1066Arg)
20g.32436062C>TCA408562879ASXL1c.3350C>T (p.Pro1117Leu)
c.3167C>T (p.Pro1056Leu)
n.5703C>T
c.1869+1481C>T (n.1869+1481C>T)
c.3335C>T (p.Pro1112Leu)
c.3347C>T (p.Pro1116Leu)
c.3320C>T (p.Pro1107Leu)
c.3266C>T (p.Pro1089Leu)
c.2666C>T (p.Pro889Leu)
c.3614C>T (p.Pro1205Leu)
c.3611C>T (p.Pro1204Leu)
c.3530C>T (p.Pro1177Leu)
c.3461C>T (p.Pro1154Leu)
c.3329C>T (p.Pro1110Leu)
c.3197C>T (p.Pro1066Leu)
 COSMIC
20g.32436063C>ACA9808799ASXL1c.3351C>A (p.Pro1117=)
c.3168C>A (p.Pro1056=)
n.5704C>A
c.1869+1482C>A (n.1869+1482C>A)
c.3336C>A (p.Pro1112=)
c.3348C>A (p.Pro1116=)
c.3321C>A (p.Pro1107=)
c.3267C>A (p.Pro1089=)
c.2667C>A (p.Pro889=)
c.3615C>A (p.Pro1205=)
c.3612C>A (p.Pro1204=)
c.3531C>A (p.Pro1177=)
c.3462C>A (p.Pro1154=)
c.3330C>A (p.Pro1110=)
c.3198C>A (p.Pro1066=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436063C=CA2360293515ASXL1c.3351C= (p.Pro1117=)
c.3168C= (p.Pro1056=)
n.5704C=
c.1869+1482C= (n.1869+1482C=)
c.3336C= (p.Pro1112=)
c.3348C= (p.Pro1116=)
c.3321C= (p.Pro1107=)
c.3267C= (p.Pro1089=)
c.2667C= (p.Pro889=)
c.3615C= (p.Pro1205=)
c.3612C= (p.Pro1204=)
c.3531C= (p.Pro1177=)
c.3462C= (p.Pro1154=)
c.3330C= (p.Pro1110=)
c.3198C= (p.Pro1066=)
20g.32436063C>GCA510467124ASXL1c.3351C>G (p.Pro1117=)
c.3168C>G (p.Pro1056=)
n.5704C>G
c.1869+1482C>G (n.1869+1482C>G)
c.3336C>G (p.Pro1112=)
c.3348C>G (p.Pro1116=)
c.3321C>G (p.Pro1107=)
c.3267C>G (p.Pro1089=)
c.2667C>G (p.Pro889=)
c.3615C>G (p.Pro1205=)
c.3612C>G (p.Pro1204=)
c.3531C>G (p.Pro1177=)
c.3462C>G (p.Pro1154=)
c.3330C>G (p.Pro1110=)
c.3198C>G (p.Pro1066=)
 dbSNP
20g.32436063C>TCA510467121ASXL1c.3351C>T (p.Pro1117=)
c.3168C>T (p.Pro1056=)
n.5704C>T
c.1869+1482C>T (n.1869+1482C>T)
c.3336C>T (p.Pro1112=)
c.3348C>T (p.Pro1116=)
c.3321C>T (p.Pro1107=)
c.3267C>T (p.Pro1089=)
c.2667C>T (p.Pro889=)
c.3615C>T (p.Pro1205=)
c.3612C>T (p.Pro1204=)
c.3531C>T (p.Pro1177=)
c.3462C>T (p.Pro1154=)
c.3330C>T (p.Pro1110=)
c.3198C>T (p.Pro1066=)
 dbSNP gnomAD v4 COSMIC
20g.32436064C>ACA408562880ASXL1c.3352C>A (p.Leu1118Ile)
c.3169C>A (p.Leu1057Ile)
n.5705C>A
c.1869+1483C>A (n.1869+1483C>A)
c.3337C>A (p.Leu1113Ile)
c.3349C>A (p.Leu1117Ile)
c.3322C>A (p.Leu1108Ile)
c.3268C>A (p.Leu1090Ile)
c.2668C>A (p.Leu890Ile)
c.3616C>A (p.Leu1206Ile)
c.3613C>A (p.Leu1205Ile)
c.3532C>A (p.Leu1178Ile)
c.3463C>A (p.Leu1155Ile)
c.3331C>A (p.Leu1111Ile)
c.3199C>A (p.Leu1067Ile)
20g.32436064C=CA2360293516ASXL1c.3352C= (p.Leu1118=)
c.3169C= (p.Leu1057=)
n.5705C=
c.1869+1483C= (n.1869+1483C=)
c.3337C= (p.Leu1113=)
c.3349C= (p.Leu1117=)
c.3322C= (p.Leu1108=)
c.3268C= (p.Leu1090=)
c.2668C= (p.Leu890=)
c.3616C= (p.Leu1206=)
c.3613C= (p.Leu1205=)
c.3532C= (p.Leu1178=)
c.3463C= (p.Leu1155=)
c.3331C= (p.Leu1111=)
c.3199C= (p.Leu1067=)
20g.32436064C>GCA408562881ASXL1c.3352C>G (p.Leu1118Val)
c.3169C>G (p.Leu1057Val)
n.5705C>G
c.1869+1483C>G (n.1869+1483C>G)
c.3337C>G (p.Leu1113Val)
c.3349C>G (p.Leu1117Val)
c.3322C>G (p.Leu1108Val)
c.3268C>G (p.Leu1090Val)
c.2668C>G (p.Leu890Val)
c.3616C>G (p.Leu1206Val)
c.3613C>G (p.Leu1205Val)
c.3532C>G (p.Leu1178Val)
c.3463C>G (p.Leu1155Val)
c.3331C>G (p.Leu1111Val)
c.3199C>G (p.Leu1067Val)
20g.32436064C>TCA510467125ASXL1c.3352C>T (p.Leu1118=)
c.3169C>T (p.Leu1057=)
n.5705C>T
c.1869+1483C>T (n.1869+1483C>T)
c.3337C>T (p.Leu1113=)
c.3349C>T (p.Leu1117=)
c.3322C>T (p.Leu1108=)
c.3268C>T (p.Leu1090=)
c.2668C>T (p.Leu890=)
c.3616C>T (p.Leu1206=)
c.3613C>T (p.Leu1205=)
c.3532C>T (p.Leu1178=)
c.3463C>T (p.Leu1155=)
c.3331C>T (p.Leu1111=)
c.3199C>T (p.Leu1067=)
 ClinVar dbSNP gnomAD v4
20g.32436065T>ACA408562884ASXL1c.3353T>A (p.Leu1118Gln)
c.3170T>A (p.Leu1057Gln)
n.5706T>A
c.1869+1484T>A (n.1869+1484T>A)
c.3338T>A (p.Leu1113Gln)
c.3350T>A (p.Leu1117Gln)
c.3323T>A (p.Leu1108Gln)
c.3269T>A (p.Leu1090Gln)
c.2669T>A (p.Leu890Gln)
c.3617T>A (p.Leu1206Gln)
c.3614T>A (p.Leu1205Gln)
c.3533T>A (p.Leu1178Gln)
c.3464T>A (p.Leu1155Gln)
c.3332T>A (p.Leu1111Gln)
c.3200T>A (p.Leu1067Gln)
20g.32436065T>CCA408562882ASXL1c.3353T>C (p.Leu1118Pro)
c.3170T>C (p.Leu1057Pro)
n.5706T>C
c.1869+1484T>C (n.1869+1484T>C)
c.3338T>C (p.Leu1113Pro)
c.3350T>C (p.Leu1117Pro)
c.3323T>C (p.Leu1108Pro)
c.3269T>C (p.Leu1090Pro)
c.2669T>C (p.Leu890Pro)
c.3617T>C (p.Leu1206Pro)
c.3614T>C (p.Leu1205Pro)
c.3533T>C (p.Leu1178Pro)
c.3464T>C (p.Leu1155Pro)
c.3332T>C (p.Leu1111Pro)
c.3200T>C (p.Leu1067Pro)
20g.32436065T>GCA408562883ASXL1c.3353T>G (p.Leu1118Arg)
c.3170T>G (p.Leu1057Arg)
n.5706T>G
c.1869+1484T>G (n.1869+1484T>G)
c.3338T>G (p.Leu1113Arg)
c.3350T>G (p.Leu1117Arg)
c.3323T>G (p.Leu1108Arg)
c.3269T>G (p.Leu1090Arg)
c.2669T>G (p.Leu890Arg)
c.3617T>G (p.Leu1206Arg)
c.3614T>G (p.Leu1205Arg)
c.3533T>G (p.Leu1178Arg)
c.3464T>G (p.Leu1155Arg)
c.3332T>G (p.Leu1111Arg)
c.3200T>G (p.Leu1067Arg)
 gnomAD v4
20g.32436066A>CCA510467128ASXL1c.3354A>C (p.Leu1118=)
c.3171A>C (p.Leu1057=)
n.5707A>C
c.1869+1485A>C (n.1869+1485A>C)
c.3339A>C (p.Leu1113=)
c.3351A>C (p.Leu1117=)
c.3324A>C (p.Leu1108=)
c.3270A>C (p.Leu1090=)
c.2670A>C (p.Leu890=)
c.3618A>C (p.Leu1206=)
c.3615A>C (p.Leu1205=)
c.3534A>C (p.Leu1178=)
c.3465A>C (p.Leu1155=)
c.3333A>C (p.Leu1111=)
c.3201A>C (p.Leu1067=)
20g.32436066A>GCA510467129ASXL1c.3354A>G (p.Leu1118=)
c.3171A>G (p.Leu1057=)
n.5707A>G
c.1869+1485A>G (n.1869+1485A>G)
c.3339A>G (p.Leu1113=)
c.3351A>G (p.Leu1117=)
c.3324A>G (p.Leu1108=)
c.3270A>G (p.Leu1090=)
c.2670A>G (p.Leu890=)
c.3618A>G (p.Leu1206=)
c.3615A>G (p.Leu1205=)
c.3534A>G (p.Leu1178=)
c.3465A>G (p.Leu1155=)
c.3333A>G (p.Leu1111=)
c.3201A>G (p.Leu1067=)
20g.32436066A>TCA510467130ASXL1c.3354A>T (p.Leu1118=)
c.3171A>T (p.Leu1057=)
n.5707A>T
c.1869+1485A>T (n.1869+1485A>T)
c.3339A>T (p.Leu1113=)
c.3351A>T (p.Leu1117=)
c.3324A>T (p.Leu1108=)
c.3270A>T (p.Leu1090=)
c.2670A>T (p.Leu890=)
c.3618A>T (p.Leu1206=)
c.3615A>T (p.Leu1205=)
c.3534A>T (p.Leu1178=)
c.3465A>T (p.Leu1155=)
c.3333A>T (p.Leu1111=)
c.3201A>T (p.Leu1067=)
20g.32436067G>ACA408562885ASXL1c.3355G>A (p.Glu1119Lys)
c.3172G>A (p.Glu1058Lys)
n.5708G>A
c.1869+1486G>A (n.1869+1486G>A)
c.3340G>A (p.Glu1114Lys)
c.3352G>A (p.Glu1118Lys)
c.3325G>A (p.Glu1109Lys)
c.3271G>A (p.Glu1091Lys)
c.2671G>A (p.Glu891Lys)
c.3619G>A (p.Glu1207Lys)
c.3616G>A (p.Glu1206Lys)
c.3535G>A (p.Glu1179Lys)
c.3466G>A (p.Glu1156Lys)
c.3334G>A (p.Glu1112Lys)
c.3202G>A (p.Glu1068Lys)
20g.32436067G>CCA408562886ASXL1c.3355G>C (p.Glu1119Gln)
c.3172G>C (p.Glu1058Gln)
n.5708G>C
c.1869+1486G>C (n.1869+1486G>C)
c.3340G>C (p.Glu1114Gln)
c.3352G>C (p.Glu1118Gln)
c.3325G>C (p.Glu1109Gln)
c.3271G>C (p.Glu1091Gln)
c.2671G>C (p.Glu891Gln)
c.3619G>C (p.Glu1207Gln)
c.3616G>C (p.Glu1206Gln)
c.3535G>C (p.Glu1179Gln)
c.3466G>C (p.Glu1156Gln)
c.3334G>C (p.Glu1112Gln)
c.3202G>C (p.Glu1068Gln)
20g.32436067G>TCA408562887ASXL1c.3355G>T (p.Glu1119Ter)
c.3172G>T (p.Glu1058Ter)
n.5708G>T
c.1869+1486G>T (n.1869+1486G>T)
c.3340G>T (p.Glu1114Ter)
c.3352G>T (p.Glu1118Ter)
c.3325G>T (p.Glu1109Ter)
c.3271G>T (p.Glu1091Ter)
c.2671G>T (p.Glu891Ter)
c.3619G>T (p.Glu1207Ter)
c.3616G>T (p.Glu1206Ter)
c.3535G>T (p.Glu1179Ter)
c.3466G>T (p.Glu1156Ter)
c.3334G>T (p.Glu1112Ter)
c.3202G>T (p.Glu1068Ter)
20g.32436068A>CCA408562888ASXL1c.3356A>C (p.Glu1119Ala)
c.3173A>C (p.Glu1058Ala)
n.5709A>C
c.1869+1487A>C (n.1869+1487A>C)
c.3341A>C (p.Glu1114Ala)
c.3353A>C (p.Glu1118Ala)
c.3326A>C (p.Glu1109Ala)
c.3272A>C (p.Glu1091Ala)
c.2672A>C (p.Glu891Ala)
c.3620A>C (p.Glu1207Ala)
c.3617A>C (p.Glu1206Ala)
c.3536A>C (p.Glu1179Ala)
c.3467A>C (p.Glu1156Ala)
c.3335A>C (p.Glu1112Ala)
c.3203A>C (p.Glu1068Ala)
20g.32436068A>GCA408562889ASXL1c.3356A>G (p.Glu1119Gly)
c.3173A>G (p.Glu1058Gly)
n.5709A>G
c.1869+1487A>G (n.1869+1487A>G)
c.3341A>G (p.Glu1114Gly)
c.3353A>G (p.Glu1118Gly)
c.3326A>G (p.Glu1109Gly)
c.3272A>G (p.Glu1091Gly)
c.2672A>G (p.Glu891Gly)
c.3620A>G (p.Glu1207Gly)
c.3617A>G (p.Glu1206Gly)
c.3536A>G (p.Glu1179Gly)
c.3467A>G (p.Glu1156Gly)
c.3335A>G (p.Glu1112Gly)
c.3203A>G (p.Glu1068Gly)
20g.32436068A>TCA408562890ASXL1c.3356A>T (p.Glu1119Val)
c.3173A>T (p.Glu1058Val)
n.5709A>T
c.1869+1487A>T (n.1869+1487A>T)
c.3341A>T (p.Glu1114Val)
c.3353A>T (p.Glu1118Val)
c.3326A>T (p.Glu1109Val)
c.3272A>T (p.Glu1091Val)
c.2672A>T (p.Glu891Val)
c.3620A>T (p.Glu1207Val)
c.3617A>T (p.Glu1206Val)
c.3536A>T (p.Glu1179Val)
c.3467A>T (p.Glu1156Val)
c.3335A>T (p.Glu1112Val)
c.3203A>T (p.Glu1068Val)
20g.32436069G>ACA510467135ASXL1c.3357G>A (p.Glu1119=)
c.3174G>A (p.Glu1058=)
n.5710G>A
c.1869+1488G>A (n.1869+1488G>A)
c.3342G>A (p.Glu1114=)
c.3354G>A (p.Glu1118=)
c.3327G>A (p.Glu1109=)
c.3273G>A (p.Glu1091=)
c.2673G>A (p.Glu891=)
c.3621G>A (p.Glu1207=)
c.3618G>A (p.Glu1206=)
c.3537G>A (p.Glu1179=)
c.3468G>A (p.Glu1156=)
c.3336G>A (p.Glu1112=)
c.3204G>A (p.Glu1068=)
20g.32436069G>CCA408562891ASXL1c.3357G>C (p.Glu1119Asp)
c.3174G>C (p.Glu1058Asp)
n.5710G>C
c.1869+1488G>C (n.1869+1488G>C)
c.3342G>C (p.Glu1114Asp)
c.3354G>C (p.Glu1118Asp)
c.3327G>C (p.Glu1109Asp)
c.3273G>C (p.Glu1091Asp)
c.2673G>C (p.Glu891Asp)
c.3621G>C (p.Glu1207Asp)
c.3618G>C (p.Glu1206Asp)
c.3537G>C (p.Glu1179Asp)
c.3468G>C (p.Glu1156Asp)
c.3336G>C (p.Glu1112Asp)
c.3204G>C (p.Glu1068Asp)
 dbSNP gnomAD v2 gnomAD v4
20g.32436069G=CA2360293517ASXL1c.3357G= (p.Glu1119=)
c.3174G= (p.Glu1058=)
n.5710G=
c.1869+1488G= (n.1869+1488G=)
c.3342G= (p.Glu1114=)
c.3354G= (p.Glu1118=)
c.3327G= (p.Glu1109=)
c.3273G= (p.Glu1091=)
c.2673G= (p.Glu891=)
c.3621G= (p.Glu1207=)
c.3618G= (p.Glu1206=)
c.3537G= (p.Glu1179=)
c.3468G= (p.Glu1156=)
c.3336G= (p.Glu1112=)
c.3204G= (p.Glu1068=)
20g.32436069G>TCA408562892ASXL1c.3357G>T (p.Glu1119Asp)
c.3174G>T (p.Glu1058Asp)
n.5710G>T
c.1869+1488G>T (n.1869+1488G>T)
c.3342G>T (p.Glu1114Asp)
c.3354G>T (p.Glu1118Asp)
c.3327G>T (p.Glu1109Asp)
c.3273G>T (p.Glu1091Asp)
c.2673G>T (p.Glu891Asp)
c.3621G>T (p.Glu1207Asp)
c.3618G>T (p.Glu1206Asp)
c.3537G>T (p.Glu1179Asp)
c.3468G>T (p.Glu1156Asp)
c.3336G>T (p.Glu1112Asp)
c.3204G>T (p.Glu1068Asp)
20g.32436070A>CCA408562893ASXL1c.3358A>C (p.Lys1120Gln)
c.3175A>C (p.Lys1059Gln)
n.5711A>C
c.1869+1489A>C (n.1869+1489A>C)
c.3343A>C (p.Lys1115Gln)
c.3355A>C (p.Lys1119Gln)
c.3328A>C (p.Lys1110Gln)
c.3274A>C (p.Lys1092Gln)
c.2674A>C (p.Lys892Gln)
c.3622A>C (p.Lys1208Gln)
c.3619A>C (p.Lys1207Gln)
c.3538A>C (p.Lys1180Gln)
c.3469A>C (p.Lys1157Gln)
c.3337A>C (p.Lys1113Gln)
c.3205A>C (p.Lys1069Gln)
20g.32436070A>GCA408562894ASXL1c.3358A>G (p.Lys1120Glu)
c.3175A>G (p.Lys1059Glu)
n.5711A>G
c.1869+1489A>G (n.1869+1489A>G)
c.3343A>G (p.Lys1115Glu)
c.3355A>G (p.Lys1119Glu)
c.3328A>G (p.Lys1110Glu)
c.3274A>G (p.Lys1092Glu)
c.2674A>G (p.Lys892Glu)
c.3622A>G (p.Lys1208Glu)
c.3619A>G (p.Lys1207Glu)
c.3538A>G (p.Lys1180Glu)
c.3469A>G (p.Lys1157Glu)
c.3337A>G (p.Lys1113Glu)
c.3205A>G (p.Lys1069Glu)
20g.32436070A>TCA408562895ASXL1c.3358A>T (p.Lys1120Ter)
c.3175A>T (p.Lys1059Ter)
n.5711A>T
c.1869+1489A>T (n.1869+1489A>T)
c.3343A>T (p.Lys1115Ter)
c.3355A>T (p.Lys1119Ter)
c.3328A>T (p.Lys1110Ter)
c.3274A>T (p.Lys1092Ter)
c.2674A>T (p.Lys892Ter)
c.3622A>T (p.Lys1208Ter)
c.3619A>T (p.Lys1207Ter)
c.3538A>T (p.Lys1180Ter)
c.3469A>T (p.Lys1157Ter)
c.3337A>T (p.Lys1113Ter)
c.3205A>T (p.Lys1069Ter)
20g.32436071A=CA2360293518ASXL1c.3359A= (p.Lys1120=)
c.3176A= (p.Lys1059=)
n.5712A=
c.1869+1490A= (n.1869+1490A=)
c.3344A= (p.Lys1115=)
c.3356A= (p.Lys1119=)
c.3329A= (p.Lys1110=)
c.3275A= (p.Lys1092=)
c.2675A= (p.Lys892=)
c.3623A= (p.Lys1208=)
c.3620A= (p.Lys1207=)
c.3539A= (p.Lys1180=)
c.3470A= (p.Lys1157=)
c.3338A= (p.Lys1113=)
c.3206A= (p.Lys1069=)
20g.32436071A>CCA408562897ASXL1c.3359A>C (p.Lys1120Thr)
c.3176A>C (p.Lys1059Thr)
n.5712A>C
c.1869+1490A>C (n.1869+1490A>C)
c.3344A>C (p.Lys1115Thr)
c.3356A>C (p.Lys1119Thr)
c.3329A>C (p.Lys1110Thr)
c.3275A>C (p.Lys1092Thr)
c.2675A>C (p.Lys892Thr)
c.3623A>C (p.Lys1208Thr)
c.3620A>C (p.Lys1207Thr)
c.3539A>C (p.Lys1180Thr)
c.3470A>C (p.Lys1157Thr)
c.3338A>C (p.Lys1113Thr)
c.3206A>C (p.Lys1069Thr)
20g.32436071A>GCA408562896ASXL1c.3359A>G (p.Lys1120Arg)
c.3176A>G (p.Lys1059Arg)
n.5712A>G
c.1869+1490A>G (n.1869+1490A>G)
c.3344A>G (p.Lys1115Arg)
c.3356A>G (p.Lys1119Arg)
c.3329A>G (p.Lys1110Arg)
c.3275A>G (p.Lys1092Arg)
c.2675A>G (p.Lys892Arg)
c.3623A>G (p.Lys1208Arg)
c.3620A>G (p.Lys1207Arg)
c.3539A>G (p.Lys1180Arg)
c.3470A>G (p.Lys1157Arg)
c.3338A>G (p.Lys1113Arg)
c.3206A>G (p.Lys1069Arg)
20g.32436071A>TCA9808800ASXL1c.3359A>T (p.Lys1120Met)
c.3176A>T (p.Lys1059Met)
n.5712A>T
c.1869+1490A>T (n.1869+1490A>T)
c.3344A>T (p.Lys1115Met)
c.3356A>T (p.Lys1119Met)
c.3329A>T (p.Lys1110Met)
c.3275A>T (p.Lys1092Met)
c.2675A>T (p.Lys892Met)
c.3623A>T (p.Lys1208Met)
c.3620A>T (p.Lys1207Met)
c.3539A>T (p.Lys1180Met)
c.3470A>T (p.Lys1157Met)
c.3338A>T (p.Lys1113Met)
c.3206A>T (p.Lys1069Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436072G>ACA10643726ASXL1c.3360G>A (p.Lys1120=)
c.3177G>A (p.Lys1059=)
n.5713G>A
c.1869+1491G>A (n.1869+1491G>A)
c.3345G>A (p.Lys1115=)
c.3357G>A (p.Lys1119=)
c.3330G>A (p.Lys1110=)
c.3276G>A (p.Lys1092=)
c.2676G>A (p.Lys892=)
c.3624G>A (p.Lys1208=)
c.3621G>A (p.Lys1207=)
c.3540G>A (p.Lys1180=)
c.3471G>A (p.Lys1157=)
c.3339G>A (p.Lys1113=)
c.3207G>A (p.Lys1069=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436072G>CCA408562898ASXL1c.3360G>C (p.Lys1120Asn)
c.3177G>C (p.Lys1059Asn)
n.5713G>C
c.1869+1491G>C (n.1869+1491G>C)
c.3345G>C (p.Lys1115Asn)
c.3357G>C (p.Lys1119Asn)
c.3330G>C (p.Lys1110Asn)
c.3276G>C (p.Lys1092Asn)
c.2676G>C (p.Lys892Asn)
c.3624G>C (p.Lys1208Asn)
c.3621G>C (p.Lys1207Asn)
c.3540G>C (p.Lys1180Asn)
c.3471G>C (p.Lys1157Asn)
c.3339G>C (p.Lys1113Asn)
c.3207G>C (p.Lys1069Asn)
 ClinVar gnomAD v4
20g.32436072G=CA2360293519ASXL1c.3360G= (p.Lys1120=)
c.3177G= (p.Lys1059=)
n.5713G=
c.1869+1491G= (n.1869+1491G=)
c.3345G= (p.Lys1115=)
c.3357G= (p.Lys1119=)
c.3330G= (p.Lys1110=)
c.3276G= (p.Lys1092=)
c.2676G= (p.Lys892=)
c.3624G= (p.Lys1208=)
c.3621G= (p.Lys1207=)
c.3540G= (p.Lys1180=)
c.3471G= (p.Lys1157=)
c.3339G= (p.Lys1113=)
c.3207G= (p.Lys1069=)
20g.32436072G>TCA408562899ASXL1c.3360G>T (p.Lys1120Asn)
c.3177G>T (p.Lys1059Asn)
n.5713G>T
c.1869+1491G>T (n.1869+1491G>T)
c.3345G>T (p.Lys1115Asn)
c.3357G>T (p.Lys1119Asn)
c.3330G>T (p.Lys1110Asn)
c.3276G>T (p.Lys1092Asn)
c.2676G>T (p.Lys892Asn)
c.3624G>T (p.Lys1208Asn)
c.3621G>T (p.Lys1207Asn)
c.3540G>T (p.Lys1180Asn)
c.3471G>T (p.Lys1157Asn)
c.3339G>T (p.Lys1113Asn)
c.3207G>T (p.Lys1069Asn)
20g.32436073G>ACA313926343ASXL1c.3361G>A (p.Val1121Ile)
c.3178G>A (p.Val1060Ile)
n.5714G>A
c.1869+1492G>A (n.1869+1492G>A)
c.3346G>A (p.Val1116Ile)
c.3358G>A (p.Val1120Ile)
c.3331G>A (p.Val1111Ile)
c.3277G>A (p.Val1093Ile)
c.2677G>A (p.Val893Ile)
c.3625G>A (p.Val1209Ile)
c.3622G>A (p.Val1208Ile)
c.3541G>A (p.Val1181Ile)
c.3472G>A (p.Val1158Ile)
c.3340G>A (p.Val1114Ile)
c.3208G>A (p.Val1070Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.32436073G>CCA408562900ASXL1c.3361G>C (p.Val1121Leu)
c.3178G>C (p.Val1060Leu)
n.5714G>C
c.1869+1492G>C (n.1869+1492G>C)
c.3346G>C (p.Val1116Leu)
c.3358G>C (p.Val1120Leu)
c.3331G>C (p.Val1111Leu)
c.3277G>C (p.Val1093Leu)
c.2677G>C (p.Val893Leu)
c.3625G>C (p.Val1209Leu)
c.3622G>C (p.Val1208Leu)
c.3541G>C (p.Val1181Leu)
c.3472G>C (p.Val1158Leu)
c.3340G>C (p.Val1114Leu)
c.3208G>C (p.Val1070Leu)
 dbSNP
20g.32436073G=CA2360293520ASXL1c.3361G= (p.Val1121=)
c.3178G= (p.Val1060=)
n.5714G=
c.1869+1492G= (n.1869+1492G=)
c.3346G= (p.Val1116=)
c.3358G= (p.Val1120=)
c.3331G= (p.Val1111=)
c.3277G= (p.Val1093=)
c.2677G= (p.Val893=)
c.3625G= (p.Val1209=)
c.3622G= (p.Val1208=)
c.3541G= (p.Val1181=)
c.3472G= (p.Val1158=)
c.3340G= (p.Val1114=)
c.3208G= (p.Val1070=)
20g.32436073G>TCA408562901ASXL1c.3361G>T (p.Val1121Phe)
c.3178G>T (p.Val1060Phe)
n.5714G>T
c.1869+1492G>T (n.1869+1492G>T)
c.3346G>T (p.Val1116Phe)
c.3358G>T (p.Val1120Phe)
c.3331G>T (p.Val1111Phe)
c.3277G>T (p.Val1093Phe)
c.2677G>T (p.Val893Phe)
c.3625G>T (p.Val1209Phe)
c.3622G>T (p.Val1208Phe)
c.3541G>T (p.Val1181Phe)
c.3472G>T (p.Val1158Phe)
c.3340G>T (p.Val1114Phe)
c.3208G>T (p.Val1070Phe)
20g.32436074T>ACA408562904ASXL1c.3362T>A (p.Val1121Asp)
c.3179T>A (p.Val1060Asp)
n.5715T>A
c.1869+1493T>A (n.1869+1493T>A)
c.3347T>A (p.Val1116Asp)
c.3359T>A (p.Val1120Asp)
c.3332T>A (p.Val1111Asp)
c.3278T>A (p.Val1093Asp)
c.2678T>A (p.Val893Asp)
c.3626T>A (p.Val1209Asp)
c.3623T>A (p.Val1208Asp)
c.3542T>A (p.Val1181Asp)
c.3473T>A (p.Val1158Asp)
c.3341T>A (p.Val1114Asp)
c.3209T>A (p.Val1070Asp)
20g.32436074T>CCA408562903ASXL1c.3362T>C (p.Val1121Ala)
c.3179T>C (p.Val1060Ala)
n.5715T>C
c.1869+1493T>C (n.1869+1493T>C)
c.3347T>C (p.Val1116Ala)
c.3359T>C (p.Val1120Ala)
c.3332T>C (p.Val1111Ala)
c.3278T>C (p.Val1093Ala)
c.2678T>C (p.Val893Ala)
c.3626T>C (p.Val1209Ala)
c.3623T>C (p.Val1208Ala)
c.3542T>C (p.Val1181Ala)
c.3473T>C (p.Val1158Ala)
c.3341T>C (p.Val1114Ala)
c.3209T>C (p.Val1070Ala)
20g.32436074T>GCA408562902ASXL1c.3362T>G (p.Val1121Gly)
c.3179T>G (p.Val1060Gly)
n.5715T>G
c.1869+1493T>G (n.1869+1493T>G)
c.3347T>G (p.Val1116Gly)
c.3359T>G (p.Val1120Gly)
c.3332T>G (p.Val1111Gly)
c.3278T>G (p.Val1093Gly)
c.2678T>G (p.Val893Gly)
c.3626T>G (p.Val1209Gly)
c.3623T>G (p.Val1208Gly)
c.3542T>G (p.Val1181Gly)
c.3473T>G (p.Val1158Gly)
c.3341T>G (p.Val1114Gly)
c.3209T>G (p.Val1070Gly)
 dbSNP
20g.32436075T>ACA510467151ASXL1c.3363T>A (p.Val1121=)
c.3180T>A (p.Val1060=)
n.5716T>A
c.1869+1494T>A (n.1869+1494T>A)
c.3348T>A (p.Val1116=)
c.3360T>A (p.Val1120=)
c.3333T>A (p.Val1111=)
c.3279T>A (p.Val1093=)
c.2679T>A (p.Val893=)
c.3627T>A (p.Val1209=)
c.3624T>A (p.Val1208=)
c.3543T>A (p.Val1181=)
c.3474T>A (p.Val1158=)
c.3342T>A (p.Val1114=)
c.3210T>A (p.Val1070=)
20g.32436075T>CCA510467153ASXL1c.3363T>C (p.Val1121=)
c.3180T>C (p.Val1060=)
n.5716T>C
c.1869+1494T>C (n.1869+1494T>C)
c.3348T>C (p.Val1116=)
c.3360T>C (p.Val1120=)
c.3333T>C (p.Val1111=)
c.3279T>C (p.Val1093=)
c.2679T>C (p.Val893=)
c.3627T>C (p.Val1209=)
c.3624T>C (p.Val1208=)
c.3543T>C (p.Val1181=)
c.3474T>C (p.Val1158=)
c.3342T>C (p.Val1114=)
c.3210T>C (p.Val1070=)
20g.32436075T>GCA510467152ASXL1c.3363T>G (p.Val1121=)
c.3180T>G (p.Val1060=)
n.5716T>G
c.1869+1494T>G (n.1869+1494T>G)
c.3348T>G (p.Val1116=)
c.3360T>G (p.Val1120=)
c.3333T>G (p.Val1111=)
c.3279T>G (p.Val1093=)
c.2679T>G (p.Val893=)
c.3627T>G (p.Val1209=)
c.3624T>G (p.Val1208=)
c.3543T>G (p.Val1181=)
c.3474T>G (p.Val1158=)
c.3342T>G (p.Val1114=)
c.3210T>G (p.Val1070=)
20g.32436076C>ACA408562905ASXL1c.3364C>A (p.Leu1122Ile)
c.3181C>A (p.Leu1061Ile)
n.5717C>A
c.1869+1495C>A (n.1869+1495C>A)
c.3349C>A (p.Leu1117Ile)
c.3361C>A (p.Leu1121Ile)
c.3334C>A (p.Leu1112Ile)
c.3280C>A (p.Leu1094Ile)
c.2680C>A (p.Leu894Ile)
c.3628C>A (p.Leu1210Ile)
c.3625C>A (p.Leu1209Ile)
c.3544C>A (p.Leu1182Ile)
c.3475C>A (p.Leu1159Ile)
c.3343C>A (p.Leu1115Ile)
c.3211C>A (p.Leu1071Ile)
 dbSNP gnomAD v3 gnomAD v4
20g.32436076C=CA2360293521ASXL1c.3364C= (p.Leu1122=)
c.3181C= (p.Leu1061=)
n.5717C=
c.1869+1495C= (n.1869+1495C=)
c.3349C= (p.Leu1117=)
c.3361C= (p.Leu1121=)
c.3334C= (p.Leu1112=)
c.3280C= (p.Leu1094=)
c.2680C= (p.Leu894=)
c.3628C= (p.Leu1210=)
c.3625C= (p.Leu1209=)
c.3544C= (p.Leu1182=)
c.3475C= (p.Leu1159=)
c.3343C= (p.Leu1115=)
c.3211C= (p.Leu1071=)
20g.32436076C>GCA408562906ASXL1c.3364C>G (p.Leu1122Val)
c.3181C>G (p.Leu1061Val)
n.5717C>G
c.1869+1495C>G (n.1869+1495C>G)
c.3349C>G (p.Leu1117Val)
c.3361C>G (p.Leu1121Val)
c.3334C>G (p.Leu1112Val)
c.3280C>G (p.Leu1094Val)
c.2680C>G (p.Leu894Val)
c.3628C>G (p.Leu1210Val)
c.3625C>G (p.Leu1209Val)
c.3544C>G (p.Leu1182Val)
c.3475C>G (p.Leu1159Val)
c.3343C>G (p.Leu1115Val)
c.3211C>G (p.Leu1071Val)
20g.32436076C>TCA408562907ASXL1c.3364C>T (p.Leu1122Phe)
c.3181C>T (p.Leu1061Phe)
n.5717C>T
c.1869+1495C>T (n.1869+1495C>T)
c.3349C>T (p.Leu1117Phe)
c.3361C>T (p.Leu1121Phe)
c.3334C>T (p.Leu1112Phe)
c.3280C>T (p.Leu1094Phe)
c.2680C>T (p.Leu894Phe)
c.3628C>T (p.Leu1210Phe)
c.3625C>T (p.Leu1209Phe)
c.3544C>T (p.Leu1182Phe)
c.3475C>T (p.Leu1159Phe)
c.3343C>T (p.Leu1115Phe)
c.3211C>T (p.Leu1071Phe)
 dbSNP
20g.32436077T>ACA408562908ASXL1c.3365T>A (p.Leu1122His)
c.3182T>A (p.Leu1061His)
n.5718T>A
c.1869+1496T>A (n.1869+1496T>A)
c.3350T>A (p.Leu1117His)
c.3362T>A (p.Leu1121His)
c.3335T>A (p.Leu1112His)
c.3281T>A (p.Leu1094His)
c.2681T>A (p.Leu894His)
c.3629T>A (p.Leu1210His)
c.3626T>A (p.Leu1209His)
c.3545T>A (p.Leu1182His)
c.3476T>A (p.Leu1159His)
c.3344T>A (p.Leu1115His)
c.3212T>A (p.Leu1071His)
20g.32436077T>CCA408562909ASXL1c.3365T>C (p.Leu1122Pro)
c.3182T>C (p.Leu1061Pro)
n.5718T>C
c.1869+1496T>C (n.1869+1496T>C)
c.3350T>C (p.Leu1117Pro)
c.3362T>C (p.Leu1121Pro)
c.3335T>C (p.Leu1112Pro)
c.3281T>C (p.Leu1094Pro)
c.2681T>C (p.Leu894Pro)
c.3629T>C (p.Leu1210Pro)
c.3626T>C (p.Leu1209Pro)
c.3545T>C (p.Leu1182Pro)
c.3476T>C (p.Leu1159Pro)
c.3344T>C (p.Leu1115Pro)
c.3212T>C (p.Leu1071Pro)
20g.32436077T>GCA408562910ASXL1c.3365T>G (p.Leu1122Arg)
c.3182T>G (p.Leu1061Arg)
n.5718T>G
c.1869+1496T>G (n.1869+1496T>G)
c.3350T>G (p.Leu1117Arg)
c.3362T>G (p.Leu1121Arg)
c.3335T>G (p.Leu1112Arg)
c.3281T>G (p.Leu1094Arg)
c.2681T>G (p.Leu894Arg)
c.3629T>G (p.Leu1210Arg)
c.3626T>G (p.Leu1209Arg)
c.3545T>G (p.Leu1182Arg)
c.3476T>G (p.Leu1159Arg)
c.3344T>G (p.Leu1115Arg)
c.3212T>G (p.Leu1071Arg)
20g.32436078T>ACA510467157ASXL1c.3366T>A (p.Leu1122=)
c.3183T>A (p.Leu1061=)
n.5719T>A
c.1869+1497T>A (n.1869+1497T>A)
c.3351T>A (p.Leu1117=)
c.3363T>A (p.Leu1121=)
c.3336T>A (p.Leu1112=)
c.3282T>A (p.Leu1094=)
c.2682T>A (p.Leu894=)
c.3630T>A (p.Leu1210=)
c.3627T>A (p.Leu1209=)
c.3546T>A (p.Leu1182=)
c.3477T>A (p.Leu1159=)
c.3345T>A (p.Leu1115=)
c.3213T>A (p.Leu1071=)
20g.32436078T>CCA510467158ASXL1c.3366T>C (p.Leu1122=)
c.3183T>C (p.Leu1061=)
n.5719T>C
c.1869+1497T>C (n.1869+1497T>C)
c.3351T>C (p.Leu1117=)
c.3363T>C (p.Leu1121=)
c.3336T>C (p.Leu1112=)
c.3282T>C (p.Leu1094=)
c.2682T>C (p.Leu894=)
c.3630T>C (p.Leu1210=)
c.3627T>C (p.Leu1209=)
c.3546T>C (p.Leu1182=)
c.3477T>C (p.Leu1159=)
c.3345T>C (p.Leu1115=)
c.3213T>C (p.Leu1071=)
20g.32436078T>GCA510467159ASXL1c.3366T>G (p.Leu1122=)
c.3183T>G (p.Leu1061=)
n.5719T>G
c.1869+1497T>G (n.1869+1497T>G)
c.3351T>G (p.Leu1117=)
c.3363T>G (p.Leu1121=)
c.3336T>G (p.Leu1112=)
c.3282T>G (p.Leu1094=)
c.2682T>G (p.Leu894=)
c.3630T>G (p.Leu1210=)
c.3627T>G (p.Leu1209=)
c.3546T>G (p.Leu1182=)
c.3477T>G (p.Leu1159=)
c.3345T>G (p.Leu1115=)
c.3213T>G (p.Leu1071=)
20g.32436079C>ACA408562911ASXL1c.3367C>A (p.Pro1123Thr)
c.3184C>A (p.Pro1062Thr)
n.5720C>A
c.1869+1498C>A (n.1869+1498C>A)
c.3352C>A (p.Pro1118Thr)
c.3364C>A (p.Pro1122Thr)
c.3337C>A (p.Pro1113Thr)
c.3283C>A (p.Pro1095Thr)
c.2683C>A (p.Pro895Thr)
c.3631C>A (p.Pro1211Thr)
c.3628C>A (p.Pro1210Thr)
c.3547C>A (p.Pro1183Thr)
c.3478C>A (p.Pro1160Thr)
c.3346C>A (p.Pro1116Thr)
c.3214C>A (p.Pro1072Thr)
20g.32436079C>GCA408562913ASXL1c.3367C>G (p.Pro1123Ala)
c.3184C>G (p.Pro1062Ala)
n.5720C>G
c.1869+1498C>G (n.1869+1498C>G)
c.3352C>G (p.Pro1118Ala)
c.3364C>G (p.Pro1122Ala)
c.3337C>G (p.Pro1113Ala)
c.3283C>G (p.Pro1095Ala)
c.2683C>G (p.Pro895Ala)
c.3631C>G (p.Pro1211Ala)
c.3628C>G (p.Pro1210Ala)
c.3547C>G (p.Pro1183Ala)
c.3478C>G (p.Pro1160Ala)
c.3346C>G (p.Pro1116Ala)
c.3214C>G (p.Pro1072Ala)
20g.32436079C>TCA408562912ASXL1c.3367C>T (p.Pro1123Ser)
c.3184C>T (p.Pro1062Ser)
n.5720C>T
c.1869+1498C>T (n.1869+1498C>T)
c.3352C>T (p.Pro1118Ser)
c.3364C>T (p.Pro1122Ser)
c.3337C>T (p.Pro1113Ser)
c.3283C>T (p.Pro1095Ser)
c.2683C>T (p.Pro895Ser)
c.3631C>T (p.Pro1211Ser)
c.3628C>T (p.Pro1210Ser)
c.3547C>T (p.Pro1183Ser)
c.3478C>T (p.Pro1160Ser)
c.3346C>T (p.Pro1116Ser)
c.3214C>T (p.Pro1072Ser)
 ClinVar gnomAD v4
20g.32436080delCA2652401192ASXL1c.3368del (p.Pro1123HisfsTer?)
c.3185del (p.Pro1062HisfsTer?)
n.5721del
c.1869+1499del (n.1869+1499del)
c.3353del (p.Pro1118HisfsTer?)
c.3365del (p.Pro1122HisfsTer?)
c.3338del (p.Pro1113HisfsTer?)
c.3284del (p.Pro1095HisfsTer?)
c.2684del (p.Pro895HisfsTer?)
c.3632del (p.Pro1211HisfsTer?)
c.3629del (p.Pro1210HisfsTer?)
c.3548del (p.Pro1183HisfsTer?)
c.3479del (p.Pro1160HisfsTer?)
c.3347del (p.Pro1116HisfsTer?)
c.3215del (p.Pro1072HisfsTer?)
 gnomAD v4
20g.32436080C>ACA408562914ASXL1c.3368C>A (p.Pro1123Gln)
c.3185C>A (p.Pro1062Gln)
n.5721C>A
c.1869+1499C>A (n.1869+1499C>A)
c.3353C>A (p.Pro1118Gln)
c.3365C>A (p.Pro1122Gln)
c.3338C>A (p.Pro1113Gln)
c.3284C>A (p.Pro1095Gln)
c.2684C>A (p.Pro895Gln)
c.3632C>A (p.Pro1211Gln)
c.3629C>A (p.Pro1210Gln)
c.3548C>A (p.Pro1183Gln)
c.3479C>A (p.Pro1160Gln)
c.3347C>A (p.Pro1116Gln)
c.3215C>A (p.Pro1072Gln)
20g.32436080C=CA2360293522ASXL1c.3368C= (p.Pro1123=)
c.3185C= (p.Pro1062=)
n.5721C=
c.1869+1499C= (n.1869+1499C=)
c.3353C= (p.Pro1118=)
c.3365C= (p.Pro1122=)
c.3338C= (p.Pro1113=)
c.3284C= (p.Pro1095=)
c.2684C= (p.Pro895=)
c.3632C= (p.Pro1211=)
c.3629C= (p.Pro1210=)
c.3548C= (p.Pro1183=)
c.3479C= (p.Pro1160=)
c.3347C= (p.Pro1116=)
c.3215C= (p.Pro1072=)
20g.32436080C>GCA408562915ASXL1c.3368C>G (p.Pro1123Arg)
c.3185C>G (p.Pro1062Arg)
n.5721C>G
c.1869+1499C>G (n.1869+1499C>G)
c.3353C>G (p.Pro1118Arg)
c.3365C>G (p.Pro1122Arg)
c.3338C>G (p.Pro1113Arg)
c.3284C>G (p.Pro1095Arg)
c.2684C>G (p.Pro895Arg)
c.3632C>G (p.Pro1211Arg)
c.3629C>G (p.Pro1210Arg)
c.3548C>G (p.Pro1183Arg)
c.3479C>G (p.Pro1160Arg)
c.3347C>G (p.Pro1116Arg)
c.3215C>G (p.Pro1072Arg)
 dbSNP
20g.32436080C>TCA9808801ASXL1c.3368C>T (p.Pro1123Leu)
c.3185C>T (p.Pro1062Leu)
n.5721C>T
c.1869+1499C>T (n.1869+1499C>T)
c.3353C>T (p.Pro1118Leu)
c.3365C>T (p.Pro1122Leu)
c.3338C>T (p.Pro1113Leu)
c.3284C>T (p.Pro1095Leu)
c.2684C>T (p.Pro895Leu)
c.3632C>T (p.Pro1211Leu)
c.3629C>T (p.Pro1210Leu)
c.3548C>T (p.Pro1183Leu)
c.3479C>T (p.Pro1160Leu)
c.3347C>T (p.Pro1116Leu)
c.3215C>T (p.Pro1072Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436081A>CCA510467165ASXL1c.3369A>C (p.Pro1123=)
c.3186A>C (p.Pro1062=)
n.5722A>C
c.1869+1500A>C (n.1869+1500A>C)
c.3354A>C (p.Pro1118=)
c.3366A>C (p.Pro1122=)
c.3339A>C (p.Pro1113=)
c.3285A>C (p.Pro1095=)
c.2685A>C (p.Pro895=)
c.3633A>C (p.Pro1211=)
c.3630A>C (p.Pro1210=)
c.3549A>C (p.Pro1183=)
c.3480A>C (p.Pro1160=)
c.3348A>C (p.Pro1116=)
c.3216A>C (p.Pro1072=)
20g.32436081A>GCA510467167ASXL1c.3369A>G (p.Pro1123=)
c.3186A>G (p.Pro1062=)
n.5722A>G
c.1869+1500A>G (n.1869+1500A>G)
c.3354A>G (p.Pro1118=)
c.3366A>G (p.Pro1122=)
c.3339A>G (p.Pro1113=)
c.3285A>G (p.Pro1095=)
c.2685A>G (p.Pro895=)
c.3633A>G (p.Pro1211=)
c.3630A>G (p.Pro1210=)
c.3549A>G (p.Pro1183=)
c.3480A>G (p.Pro1160=)
c.3348A>G (p.Pro1116=)
c.3216A>G (p.Pro1072=)
 gnomAD v4
20g.32436081A>TCA510467168ASXL1c.3369A>T (p.Pro1123=)
c.3186A>T (p.Pro1062=)
n.5722A>T
c.1869+1500A>T (n.1869+1500A>T)
c.3354A>T (p.Pro1118=)
c.3366A>T (p.Pro1122=)
c.3339A>T (p.Pro1113=)
c.3285A>T (p.Pro1095=)
c.2685A>T (p.Pro895=)
c.3633A>T (p.Pro1211=)
c.3630A>T (p.Pro1210=)
c.3549A>T (p.Pro1183=)
c.3480A>T (p.Pro1160=)
c.3348A>T (p.Pro1116=)
c.3216A>T (p.Pro1072=)
20g.32436082C>ACA408562916ASXL1c.3370C>A (p.Pro1124Thr)
c.3187C>A (p.Pro1063Thr)
n.5723C>A
c.1869+1501C>A (n.1869+1501C>A)
c.3355C>A (p.Pro1119Thr)
c.3367C>A (p.Pro1123Thr)
c.3340C>A (p.Pro1114Thr)
c.3286C>A (p.Pro1096Thr)
c.2686C>A (p.Pro896Thr)
c.3634C>A (p.Pro1212Thr)
c.3631C>A (p.Pro1211Thr)
c.3550C>A (p.Pro1184Thr)
c.3481C>A (p.Pro1161Thr)
c.3349C>A (p.Pro1117Thr)
c.3217C>A (p.Pro1073Thr)
20g.32436082C=CA2360293523ASXL1c.3370C= (p.Pro1124=)
c.3187C= (p.Pro1063=)
n.5723C=
c.1869+1501C= (n.1869+1501C=)
c.3355C= (p.Pro1119=)
c.3367C= (p.Pro1123=)
c.3340C= (p.Pro1114=)
c.3286C= (p.Pro1096=)
c.2686C= (p.Pro896=)
c.3634C= (p.Pro1212=)
c.3631C= (p.Pro1211=)
c.3550C= (p.Pro1184=)
c.3481C= (p.Pro1161=)
c.3349C= (p.Pro1117=)
c.3217C= (p.Pro1073=)
20g.32436082C>GCA408562917ASXL1c.3370C>G (p.Pro1124Ala)
c.3187C>G (p.Pro1063Ala)
n.5723C>G
c.1869+1501C>G (n.1869+1501C>G)
c.3355C>G (p.Pro1119Ala)
c.3367C>G (p.Pro1123Ala)
c.3340C>G (p.Pro1114Ala)
c.3286C>G (p.Pro1096Ala)
c.2686C>G (p.Pro896Ala)
c.3634C>G (p.Pro1212Ala)
c.3631C>G (p.Pro1211Ala)
c.3550C>G (p.Pro1184Ala)
c.3481C>G (p.Pro1161Ala)
c.3349C>G (p.Pro1117Ala)
c.3217C>G (p.Pro1073Ala)
 ClinVar
20g.32436082C>TCA9808802ASXL1c.3370C>T (p.Pro1124Ser)
c.3187C>T (p.Pro1063Ser)
n.5723C>T
c.1869+1501C>T (n.1869+1501C>T)
c.3355C>T (p.Pro1119Ser)
c.3367C>T (p.Pro1123Ser)
c.3340C>T (p.Pro1114Ser)
c.3286C>T (p.Pro1096Ser)
c.2686C>T (p.Pro896Ser)
c.3634C>T (p.Pro1212Ser)
c.3631C>T (p.Pro1211Ser)
c.3550C>T (p.Pro1184Ser)
c.3481C>T (p.Pro1161Ser)
c.3349C>T (p.Pro1117Ser)
c.3217C>T (p.Pro1073Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436083C>ACA408562918ASXL1c.3371C>A (p.Pro1124Gln)
c.3188C>A (p.Pro1063Gln)
n.5724C>A
c.1869+1502C>A (n.1869+1502C>A)
c.3356C>A (p.Pro1119Gln)
c.3368C>A (p.Pro1123Gln)
c.3341C>A (p.Pro1114Gln)
c.3287C>A (p.Pro1096Gln)
c.2687C>A (p.Pro896Gln)
c.3635C>A (p.Pro1212Gln)
c.3632C>A (p.Pro1211Gln)
c.3551C>A (p.Pro1184Gln)
c.3482C>A (p.Pro1161Gln)
c.3350C>A (p.Pro1117Gln)
c.3218C>A (p.Pro1073Gln)
 dbSNP
20g.32436083C=CA2360293524ASXL1c.3371C= (p.Pro1124=)
c.3188C= (p.Pro1063=)
n.5724C=
c.1869+1502C= (n.1869+1502C=)
c.3356C= (p.Pro1119=)
c.3368C= (p.Pro1123=)
c.3341C= (p.Pro1114=)
c.3287C= (p.Pro1096=)
c.2687C= (p.Pro896=)
c.3635C= (p.Pro1212=)
c.3632C= (p.Pro1211=)
c.3551C= (p.Pro1184=)
c.3482C= (p.Pro1161=)
c.3350C= (p.Pro1117=)
c.3218C= (p.Pro1073=)
20g.32436083C>GCA408562919ASXL1c.3371C>G (p.Pro1124Arg)
c.3188C>G (p.Pro1063Arg)
n.5724C>G
c.1869+1502C>G (n.1869+1502C>G)
c.3356C>G (p.Pro1119Arg)
c.3368C>G (p.Pro1123Arg)
c.3341C>G (p.Pro1114Arg)
c.3287C>G (p.Pro1096Arg)
c.2687C>G (p.Pro896Arg)
c.3635C>G (p.Pro1212Arg)
c.3632C>G (p.Pro1211Arg)
c.3551C>G (p.Pro1184Arg)
c.3482C>G (p.Pro1161Arg)
c.3350C>G (p.Pro1117Arg)
c.3218C>G (p.Pro1073Arg)
 dbSNP gnomAD v4
20g.32436083C>TCA9808803ASXL1c.3371C>T (p.Pro1124Leu)
c.3188C>T (p.Pro1063Leu)
n.5724C>T
c.1869+1502C>T (n.1869+1502C>T)
c.3356C>T (p.Pro1119Leu)
c.3368C>T (p.Pro1123Leu)
c.3341C>T (p.Pro1114Leu)
c.3287C>T (p.Pro1096Leu)
c.2687C>T (p.Pro896Leu)
c.3635C>T (p.Pro1212Leu)
c.3632C>T (p.Pro1211Leu)
c.3551C>T (p.Pro1184Leu)
c.3482C>T (p.Pro1161Leu)
c.3350C>T (p.Pro1117Leu)
c.3218C>T (p.Pro1073Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436084A>CCA510467172ASXL1c.3372A>C (p.Pro1124=)
c.3189A>C (p.Pro1063=)
n.5725A>C
c.1869+1503A>C (n.1869+1503A>C)
c.3357A>C (p.Pro1119=)
c.3369A>C (p.Pro1123=)
c.3342A>C (p.Pro1114=)
c.3288A>C (p.Pro1096=)
c.2688A>C (p.Pro896=)
c.3636A>C (p.Pro1212=)
c.3633A>C (p.Pro1211=)
c.3552A>C (p.Pro1184=)
c.3483A>C (p.Pro1161=)
c.3351A>C (p.Pro1117=)
c.3219A>C (p.Pro1073=)
20g.32436084A>GCA510467173ASXL1c.3372A>G (p.Pro1124=)
c.3189A>G (p.Pro1063=)
n.5725A>G
c.1869+1503A>G (n.1869+1503A>G)
c.3357A>G (p.Pro1119=)
c.3369A>G (p.Pro1123=)
c.3342A>G (p.Pro1114=)
c.3288A>G (p.Pro1096=)
c.2688A>G (p.Pro896=)
c.3636A>G (p.Pro1212=)
c.3633A>G (p.Pro1211=)
c.3552A>G (p.Pro1184=)
c.3483A>G (p.Pro1161=)
c.3351A>G (p.Pro1117=)
c.3219A>G (p.Pro1073=)
20g.32436084A>TCA510467174ASXL1c.3372A>T (p.Pro1124=)
c.3189A>T (p.Pro1063=)
n.5725A>T
c.1869+1503A>T (n.1869+1503A>T)
c.3357A>T (p.Pro1119=)
c.3369A>T (p.Pro1123=)
c.3342A>T (p.Pro1114=)
c.3288A>T (p.Pro1096=)
c.2688A>T (p.Pro896=)
c.3636A>T (p.Pro1212=)
c.3633A>T (p.Pro1211=)
c.3552A>T (p.Pro1184=)
c.3483A>T (p.Pro1161=)
c.3351A>T (p.Pro1117=)
c.3219A>T (p.Pro1073=)
20g.32436085G>ACA408562920ASXL1c.3373G>A (p.Ala1125Thr)
c.3190G>A (p.Ala1064Thr)
n.5726G>A
c.1869+1504G>A (n.1869+1504G>A)
c.3358G>A (p.Ala1120Thr)
c.3370G>A (p.Ala1124Thr)
c.3343G>A (p.Ala1115Thr)
c.3289G>A (p.Ala1097Thr)
c.2689G>A (p.Ala897Thr)
c.3637G>A (p.Ala1213Thr)
c.3634G>A (p.Ala1212Thr)
c.3553G>A (p.Ala1185Thr)
c.3484G>A (p.Ala1162Thr)
c.3352G>A (p.Ala1118Thr)
c.3220G>A (p.Ala1074Thr)
 dbSNP
20g.32436085G>CCA408562921ASXL1c.3373G>C (p.Ala1125Pro)
c.3190G>C (p.Ala1064Pro)
n.5726G>C
c.1869+1504G>C (n.1869+1504G>C)
c.3358G>C (p.Ala1120Pro)
c.3370G>C (p.Ala1124Pro)
c.3343G>C (p.Ala1115Pro)
c.3289G>C (p.Ala1097Pro)
c.2689G>C (p.Ala897Pro)
c.3637G>C (p.Ala1213Pro)
c.3634G>C (p.Ala1212Pro)
c.3553G>C (p.Ala1185Pro)
c.3484G>C (p.Ala1162Pro)
c.3352G>C (p.Ala1118Pro)
c.3220G>C (p.Ala1074Pro)
 dbSNP
20g.32436085G>TCA408562922ASXL1c.3373G>T (p.Ala1125Ser)
c.3190G>T (p.Ala1064Ser)
n.5726G>T
c.1869+1504G>T (n.1869+1504G>T)
c.3358G>T (p.Ala1120Ser)
c.3370G>T (p.Ala1124Ser)
c.3343G>T (p.Ala1115Ser)
c.3289G>T (p.Ala1097Ser)
c.2689G>T (p.Ala897Ser)
c.3637G>T (p.Ala1213Ser)
c.3634G>T (p.Ala1212Ser)
c.3553G>T (p.Ala1185Ser)
c.3484G>T (p.Ala1162Ser)
c.3352G>T (p.Ala1118Ser)
c.3220G>T (p.Ala1074Ser)

Number of alleles fetched