Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436086C>ACA408562923ASXL1c.3374C>A (p.Ala1125Asp)
c.3191C>A (p.Ala1064Asp)
n.5727C>A
c.1869+1505C>A (n.1869+1505C>A)
c.3359C>A (p.Ala1120Asp)
c.3371C>A (p.Ala1124Asp)
c.3344C>A (p.Ala1115Asp)
c.3290C>A (p.Ala1097Asp)
c.2690C>A (p.Ala897Asp)
c.3638C>A (p.Ala1213Asp)
c.3635C>A (p.Ala1212Asp)
c.3554C>A (p.Ala1185Asp)
c.3485C>A (p.Ala1162Asp)
c.3353C>A (p.Ala1118Asp)
c.3221C>A (p.Ala1074Asp)
20g.32436086C=CA2360293525ASXL1c.3374C= (p.Ala1125=)
c.3191C= (p.Ala1064=)
n.5727C=
c.1869+1505C= (n.1869+1505C=)
c.3359C= (p.Ala1120=)
c.3371C= (p.Ala1124=)
c.3344C= (p.Ala1115=)
c.3290C= (p.Ala1097=)
c.2690C= (p.Ala897=)
c.3638C= (p.Ala1213=)
c.3635C= (p.Ala1212=)
c.3554C= (p.Ala1185=)
c.3485C= (p.Ala1162=)
c.3353C= (p.Ala1118=)
c.3221C= (p.Ala1074=)
20g.32436086C>GCA408562925ASXL1c.3374C>G (p.Ala1125Gly)
c.3191C>G (p.Ala1064Gly)
n.5727C>G
c.1869+1505C>G (n.1869+1505C>G)
c.3359C>G (p.Ala1120Gly)
c.3371C>G (p.Ala1124Gly)
c.3344C>G (p.Ala1115Gly)
c.3290C>G (p.Ala1097Gly)
c.2690C>G (p.Ala897Gly)
c.3638C>G (p.Ala1213Gly)
c.3635C>G (p.Ala1212Gly)
c.3554C>G (p.Ala1185Gly)
c.3485C>G (p.Ala1162Gly)
c.3353C>G (p.Ala1118Gly)
c.3221C>G (p.Ala1074Gly)
20g.32436086C>TCA408562924ASXL1c.3374C>T (p.Ala1125Val)
c.3191C>T (p.Ala1064Val)
n.5727C>T
c.1869+1505C>T (n.1869+1505C>T)
c.3359C>T (p.Ala1120Val)
c.3371C>T (p.Ala1124Val)
c.3344C>T (p.Ala1115Val)
c.3290C>T (p.Ala1097Val)
c.2690C>T (p.Ala897Val)
c.3638C>T (p.Ala1213Val)
c.3635C>T (p.Ala1212Val)
c.3554C>T (p.Ala1185Val)
c.3485C>T (p.Ala1162Val)
c.3353C>T (p.Ala1118Val)
c.3221C>T (p.Ala1074Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436087C>ACA510467182ASXL1c.3375C>A (p.Ala1125=)
c.3192C>A (p.Ala1064=)
n.5728C>A
c.1869+1506C>A (n.1869+1506C>A)
c.3360C>A (p.Ala1120=)
c.3372C>A (p.Ala1124=)
c.3345C>A (p.Ala1115=)
c.3291C>A (p.Ala1097=)
c.2691C>A (p.Ala897=)
c.3639C>A (p.Ala1213=)
c.3636C>A (p.Ala1212=)
c.3555C>A (p.Ala1185=)
c.3486C>A (p.Ala1162=)
c.3354C>A (p.Ala1118=)
c.3222C>A (p.Ala1074=)
 dbSNP
20g.32436087C>GCA510467185ASXL1c.3375C>G (p.Ala1125=)
c.3192C>G (p.Ala1064=)
n.5728C>G
c.1869+1506C>G (n.1869+1506C>G)
c.3360C>G (p.Ala1120=)
c.3372C>G (p.Ala1124=)
c.3345C>G (p.Ala1115=)
c.3291C>G (p.Ala1097=)
c.2691C>G (p.Ala897=)
c.3639C>G (p.Ala1213=)
c.3636C>G (p.Ala1212=)
c.3555C>G (p.Ala1185=)
c.3486C>G (p.Ala1162=)
c.3354C>G (p.Ala1118=)
c.3222C>G (p.Ala1074=)
20g.32436087C>TCA510467186ASXL1c.3375C>T (p.Ala1125=)
c.3192C>T (p.Ala1064=)
n.5728C>T
c.1869+1506C>T (n.1869+1506C>T)
c.3360C>T (p.Ala1120=)
c.3372C>T (p.Ala1124=)
c.3345C>T (p.Ala1115=)
c.3291C>T (p.Ala1097=)
c.2691C>T (p.Ala897=)
c.3639C>T (p.Ala1213=)
c.3636C>T (p.Ala1212=)
c.3555C>T (p.Ala1185=)
c.3486C>T (p.Ala1162=)
c.3354C>T (p.Ala1118=)
c.3222C>T (p.Ala1074=)
20g.32436088C>ACA408562926ASXL1c.3376C>A (p.His1126Asn)
c.3193C>A (p.His1065Asn)
n.5729C>A
c.1869+1507C>A (n.1869+1507C>A)
c.3361C>A (p.His1121Asn)
c.3373C>A (p.His1125Asn)
c.3346C>A (p.His1116Asn)
c.3292C>A (p.His1098Asn)
c.2692C>A (p.His898Asn)
c.3640C>A (p.His1214Asn)
c.3637C>A (p.His1213Asn)
c.3556C>A (p.His1186Asn)
c.3487C>A (p.His1163Asn)
c.3355C>A (p.His1119Asn)
c.3223C>A (p.His1075Asn)
 dbSNP
20g.32436088C=CA2360293526ASXL1c.3376C= (p.His1126=)
c.3193C= (p.His1065=)
n.5729C=
c.1869+1507C= (n.1869+1507C=)
c.3361C= (p.His1121=)
c.3373C= (p.His1125=)
c.3346C= (p.His1116=)
c.3292C= (p.His1098=)
c.2692C= (p.His898=)
c.3640C= (p.His1214=)
c.3637C= (p.His1213=)
c.3556C= (p.His1186=)
c.3487C= (p.His1163=)
c.3355C= (p.His1119=)
c.3223C= (p.His1075=)
20g.32436088C>GCA408562927ASXL1c.3376C>G (p.His1126Asp)
c.3193C>G (p.His1065Asp)
n.5729C>G
c.1869+1507C>G (n.1869+1507C>G)
c.3361C>G (p.His1121Asp)
c.3373C>G (p.His1125Asp)
c.3346C>G (p.His1116Asp)
c.3292C>G (p.His1098Asp)
c.2692C>G (p.His898Asp)
c.3640C>G (p.His1214Asp)
c.3637C>G (p.His1213Asp)
c.3556C>G (p.His1186Asp)
c.3487C>G (p.His1163Asp)
c.3355C>G (p.His1119Asp)
c.3223C>G (p.His1075Asp)
20g.32436088C>TCA9808804ASXL1c.3376C>T (p.His1126Tyr)
c.3193C>T (p.His1065Tyr)
n.5729C>T
c.1869+1507C>T (n.1869+1507C>T)
c.3361C>T (p.His1121Tyr)
c.3373C>T (p.His1125Tyr)
c.3346C>T (p.His1116Tyr)
c.3292C>T (p.His1098Tyr)
c.2692C>T (p.His898Tyr)
c.3640C>T (p.His1214Tyr)
c.3637C>T (p.His1213Tyr)
c.3556C>T (p.His1186Tyr)
c.3487C>T (p.His1163Tyr)
c.3355C>T (p.His1119Tyr)
c.3223C>T (p.His1075Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436089A>CCA408562928ASXL1c.3377A>C (p.His1126Pro)
c.3194A>C (p.His1065Pro)
n.5730A>C
c.1869+1508A>C (n.1869+1508A>C)
c.3362A>C (p.His1121Pro)
c.3374A>C (p.His1125Pro)
c.3347A>C (p.His1116Pro)
c.3293A>C (p.His1098Pro)
c.2693A>C (p.His898Pro)
c.3641A>C (p.His1214Pro)
c.3638A>C (p.His1213Pro)
c.3557A>C (p.His1186Pro)
c.3488A>C (p.His1163Pro)
c.3356A>C (p.His1119Pro)
c.3224A>C (p.His1075Pro)
20g.32436089A>GCA408562929ASXL1c.3377A>G (p.His1126Arg)
c.3194A>G (p.His1065Arg)
n.5730A>G
c.1869+1508A>G (n.1869+1508A>G)
c.3362A>G (p.His1121Arg)
c.3374A>G (p.His1125Arg)
c.3347A>G (p.His1116Arg)
c.3293A>G (p.His1098Arg)
c.2693A>G (p.His898Arg)
c.3641A>G (p.His1214Arg)
c.3638A>G (p.His1213Arg)
c.3557A>G (p.His1186Arg)
c.3488A>G (p.His1163Arg)
c.3356A>G (p.His1119Arg)
c.3224A>G (p.His1075Arg)
 COSMIC COSMIC
20g.32436089A>TCA408562930ASXL1c.3377A>T (p.His1126Leu)
c.3194A>T (p.His1065Leu)
n.5730A>T
c.1869+1508A>T (n.1869+1508A>T)
c.3362A>T (p.His1121Leu)
c.3374A>T (p.His1125Leu)
c.3347A>T (p.His1116Leu)
c.3293A>T (p.His1098Leu)
c.2693A>T (p.His898Leu)
c.3641A>T (p.His1214Leu)
c.3638A>T (p.His1213Leu)
c.3557A>T (p.His1186Leu)
c.3488A>T (p.His1163Leu)
c.3356A>T (p.His1119Leu)
c.3224A>T (p.His1075Leu)
20g.32436090C>ACA408562931ASXL1c.3378C>A (p.His1126Gln)
c.3195C>A (p.His1065Gln)
n.5731C>A
c.1869+1509C>A (n.1869+1509C>A)
c.3363C>A (p.His1121Gln)
c.3375C>A (p.His1125Gln)
c.3348C>A (p.His1116Gln)
c.3294C>A (p.His1098Gln)
c.2694C>A (p.His898Gln)
c.3642C>A (p.His1214Gln)
c.3639C>A (p.His1213Gln)
c.3558C>A (p.His1186Gln)
c.3489C>A (p.His1163Gln)
c.3357C>A (p.His1119Gln)
c.3225C>A (p.His1075Gln)
20g.32436090C=CA2360293527ASXL1c.3378C= (p.His1126=)
c.3195C= (p.His1065=)
n.5731C=
c.1869+1509C= (n.1869+1509C=)
c.3363C= (p.His1121=)
c.3375C= (p.His1125=)
c.3348C= (p.His1116=)
c.3294C= (p.His1098=)
c.2694C= (p.His898=)
c.3642C= (p.His1214=)
c.3639C= (p.His1213=)
c.3558C= (p.His1186=)
c.3489C= (p.His1163=)
c.3357C= (p.His1119=)
c.3225C= (p.His1075=)
20g.32436090C>GCA408562932ASXL1c.3378C>G (p.His1126Gln)
c.3195C>G (p.His1065Gln)
n.5731C>G
c.1869+1509C>G (n.1869+1509C>G)
c.3363C>G (p.His1121Gln)
c.3375C>G (p.His1125Gln)
c.3348C>G (p.His1116Gln)
c.3294C>G (p.His1098Gln)
c.2694C>G (p.His898Gln)
c.3642C>G (p.His1214Gln)
c.3639C>G (p.His1213Gln)
c.3558C>G (p.His1186Gln)
c.3489C>G (p.His1163Gln)
c.3357C>G (p.His1119Gln)
c.3225C>G (p.His1075Gln)
20g.32436090C>TCA9808805ASXL1c.3378C>T (p.His1126=)
c.3195C>T (p.His1065=)
n.5731C>T
c.1869+1509C>T (n.1869+1509C>T)
c.3363C>T (p.His1121=)
c.3375C>T (p.His1125=)
c.3348C>T (p.His1116=)
c.3294C>T (p.His1098=)
c.2694C>T (p.His898=)
c.3642C>T (p.His1214=)
c.3639C>T (p.His1213=)
c.3558C>T (p.His1186=)
c.3489C>T (p.His1163=)
c.3357C>T (p.His1119=)
c.3225C>T (p.His1075=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436091G>ACA9808806ASXL1c.3379G>A (p.Asp1127Asn)
c.3196G>A (p.Asp1066Asn)
n.5732G>A
c.1869+1510G>A (n.1869+1510G>A)
c.3364G>A (p.Asp1122Asn)
c.3376G>A (p.Asp1126Asn)
c.3349G>A (p.Asp1117Asn)
c.3295G>A (p.Asp1099Asn)
c.2695G>A (p.Asp899Asn)
c.3643G>A (p.Asp1215Asn)
c.3640G>A (p.Asp1214Asn)
c.3559G>A (p.Asp1187Asn)
c.3490G>A (p.Asp1164Asn)
c.3358G>A (p.Asp1120Asn)
c.3226G>A (p.Asp1076Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436091G>CCA408562933ASXL1c.3379G>C (p.Asp1127His)
c.3196G>C (p.Asp1066His)
n.5732G>C
c.1869+1510G>C (n.1869+1510G>C)
c.3364G>C (p.Asp1122His)
c.3376G>C (p.Asp1126His)
c.3349G>C (p.Asp1117His)
c.3295G>C (p.Asp1099His)
c.2695G>C (p.Asp899His)
c.3643G>C (p.Asp1215His)
c.3640G>C (p.Asp1214His)
c.3559G>C (p.Asp1187His)
c.3490G>C (p.Asp1164His)
c.3358G>C (p.Asp1120His)
c.3226G>C (p.Asp1076His)
 dbSNP
20g.32436091G=CA2360293528ASXL1c.3379G= (p.Asp1127=)
c.3196G= (p.Asp1066=)
n.5732G=
c.1869+1510G= (n.1869+1510G=)
c.3364G= (p.Asp1122=)
c.3376G= (p.Asp1126=)
c.3349G= (p.Asp1117=)
c.3295G= (p.Asp1099=)
c.2695G= (p.Asp899=)
c.3643G= (p.Asp1215=)
c.3640G= (p.Asp1214=)
c.3559G= (p.Asp1187=)
c.3490G= (p.Asp1164=)
c.3358G= (p.Asp1120=)
c.3226G= (p.Asp1076=)
20g.32436091G>TCA408562934ASXL1c.3379G>T (p.Asp1127Tyr)
c.3196G>T (p.Asp1066Tyr)
n.5732G>T
c.1869+1510G>T (n.1869+1510G>T)
c.3364G>T (p.Asp1122Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3349G>T (p.Asp1117Tyr)
c.3295G>T (p.Asp1099Tyr)
c.2695G>T (p.Asp899Tyr)
c.3643G>T (p.Asp1215Tyr)
c.3640G>T (p.Asp1214Tyr)
c.3559G>T (p.Asp1187Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3358G>T (p.Asp1120Tyr)
c.3226G>T (p.Asp1076Tyr)
 dbSNP gnomAD v4
20g.32436092A>CCA408562937ASXL1c.3380A>C (p.Asp1127Ala)
c.3197A>C (p.Asp1066Ala)
n.5733A>C
c.1869+1511A>C (n.1869+1511A>C)
c.3365A>C (p.Asp1122Ala)
c.3377A>C (p.Asp1126Ala)
c.3350A>C (p.Asp1117Ala)
c.3296A>C (p.Asp1099Ala)
c.2696A>C (p.Asp899Ala)
c.3644A>C (p.Asp1215Ala)
c.3641A>C (p.Asp1214Ala)
c.3560A>C (p.Asp1187Ala)
c.3491A>C (p.Asp1164Ala)
c.3359A>C (p.Asp1120Ala)
c.3227A>C (p.Asp1076Ala)
20g.32436092A>GCA408562935ASXL1c.3380A>G (p.Asp1127Gly)
c.3197A>G (p.Asp1066Gly)
n.5733A>G
c.1869+1511A>G (n.1869+1511A>G)
c.3365A>G (p.Asp1122Gly)
c.3377A>G (p.Asp1126Gly)
c.3350A>G (p.Asp1117Gly)
c.3296A>G (p.Asp1099Gly)
c.2696A>G (p.Asp899Gly)
c.3644A>G (p.Asp1215Gly)
c.3641A>G (p.Asp1214Gly)
c.3560A>G (p.Asp1187Gly)
c.3491A>G (p.Asp1164Gly)
c.3359A>G (p.Asp1120Gly)
c.3227A>G (p.Asp1076Gly)
 gnomAD v4
20g.32436092A>TCA408562936ASXL1c.3380A>T (p.Asp1127Val)
c.3197A>T (p.Asp1066Val)
n.5733A>T
c.1869+1511A>T (n.1869+1511A>T)
c.3365A>T (p.Asp1122Val)
c.3377A>T (p.Asp1126Val)
c.3350A>T (p.Asp1117Val)
c.3296A>T (p.Asp1099Val)
c.2696A>T (p.Asp899Val)
c.3644A>T (p.Asp1215Val)
c.3641A>T (p.Asp1214Val)
c.3560A>T (p.Asp1187Val)
c.3491A>T (p.Asp1164Val)
c.3359A>T (p.Asp1120Val)
c.3227A>T (p.Asp1076Val)
20g.32436093T>ACA9808807ASXL1c.3381T>A (p.Asp1127Glu)
c.3198T>A (p.Asp1066Glu)
n.5734T>A
c.1869+1512T>A (n.1869+1512T>A)
c.3366T>A (p.Asp1122Glu)
c.3378T>A (p.Asp1126Glu)
c.3351T>A (p.Asp1117Glu)
c.3297T>A (p.Asp1099Glu)
c.2697T>A (p.Asp899Glu)
c.3645T>A (p.Asp1215Glu)
c.3642T>A (p.Asp1214Glu)
c.3561T>A (p.Asp1187Glu)
c.3492T>A (p.Asp1164Glu)
c.3360T>A (p.Asp1120Glu)
c.3228T>A (p.Asp1076Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436093T>CCA510467197ASXL1c.3381T>C (p.Asp1127=)
c.3198T>C (p.Asp1066=)
n.5734T>C
c.1869+1512T>C (n.1869+1512T>C)
c.3366T>C (p.Asp1122=)
c.3378T>C (p.Asp1126=)
c.3351T>C (p.Asp1117=)
c.3297T>C (p.Asp1099=)
c.2697T>C (p.Asp899=)
c.3645T>C (p.Asp1215=)
c.3642T>C (p.Asp1214=)
c.3561T>C (p.Asp1187=)
c.3492T>C (p.Asp1164=)
c.3360T>C (p.Asp1120=)
c.3228T>C (p.Asp1076=)
20g.32436093T>GCA408562938ASXL1c.3381T>G (p.Asp1127Glu)
c.3198T>G (p.Asp1066Glu)
n.5734T>G
c.1869+1512T>G (n.1869+1512T>G)
c.3366T>G (p.Asp1122Glu)
c.3378T>G (p.Asp1126Glu)
c.3351T>G (p.Asp1117Glu)
c.3297T>G (p.Asp1099Glu)
c.2697T>G (p.Asp899Glu)
c.3645T>G (p.Asp1215Glu)
c.3642T>G (p.Asp1214Glu)
c.3561T>G (p.Asp1187Glu)
c.3492T>G (p.Asp1164Glu)
c.3360T>G (p.Asp1120Glu)
c.3228T>G (p.Asp1076Glu)
20g.32436093T=CA2360293529ASXL1c.3381T= (p.Asp1127=)
c.3198T= (p.Asp1066=)
n.5734T=
c.1869+1512T= (n.1869+1512T=)
c.3366T= (p.Asp1122=)
c.3378T= (p.Asp1126=)
c.3351T= (p.Asp1117=)
c.3297T= (p.Asp1099=)
c.2697T= (p.Asp899=)
c.3645T= (p.Asp1215=)
c.3642T= (p.Asp1214=)
c.3561T= (p.Asp1187=)
c.3492T= (p.Asp1164=)
c.3360T= (p.Asp1120=)
c.3228T= (p.Asp1076=)
20g.32436094G>ACA408562939ASXL1c.3382G>A (p.Asp1128Asn)
c.3199G>A (p.Asp1067Asn)
n.5735G>A
c.1869+1513G>A (n.1869+1513G>A)
c.3367G>A (p.Asp1123Asn)
c.3379G>A (p.Asp1127Asn)
c.3352G>A (p.Asp1118Asn)
c.3298G>A (p.Asp1100Asn)
c.2698G>A (p.Asp900Asn)
c.3646G>A (p.Asp1216Asn)
c.3643G>A (p.Asp1215Asn)
c.3562G>A (p.Asp1188Asn)
c.3493G>A (p.Asp1165Asn)
c.3361G>A (p.Asp1121Asn)
c.3229G>A (p.Asp1077Asn)
20g.32436094G>CCA408562940ASXL1c.3382G>C (p.Asp1128His)
c.3199G>C (p.Asp1067His)
n.5735G>C
c.1869+1513G>C (n.1869+1513G>C)
c.3367G>C (p.Asp1123His)
c.3379G>C (p.Asp1127His)
c.3352G>C (p.Asp1118His)
c.3298G>C (p.Asp1100His)
c.2698G>C (p.Asp900His)
c.3646G>C (p.Asp1216His)
c.3643G>C (p.Asp1215His)
c.3562G>C (p.Asp1188His)
c.3493G>C (p.Asp1165His)
c.3361G>C (p.Asp1121His)
c.3229G>C (p.Asp1077His)
 dbSNP
20g.32436094G>TCA408562941ASXL1c.3382G>T (p.Asp1128Tyr)
c.3199G>T (p.Asp1067Tyr)
n.5735G>T
c.1869+1513G>T (n.1869+1513G>T)
c.3367G>T (p.Asp1123Tyr)
c.3379G>T (p.Asp1127Tyr)
c.3352G>T (p.Asp1118Tyr)
c.3298G>T (p.Asp1100Tyr)
c.2698G>T (p.Asp900Tyr)
c.3646G>T (p.Asp1216Tyr)
c.3643G>T (p.Asp1215Tyr)
c.3562G>T (p.Asp1188Tyr)
c.3493G>T (p.Asp1165Tyr)
c.3361G>T (p.Asp1121Tyr)
c.3229G>T (p.Asp1077Tyr)
20g.32436095A>CCA408562942ASXL1c.3383A>C (p.Asp1128Ala)
c.3200A>C (p.Asp1067Ala)
n.5736A>C
c.1869+1514A>C (n.1869+1514A>C)
c.3368A>C (p.Asp1123Ala)
c.3380A>C (p.Asp1127Ala)
c.3353A>C (p.Asp1118Ala)
c.3299A>C (p.Asp1100Ala)
c.2699A>C (p.Asp900Ala)
c.3647A>C (p.Asp1216Ala)
c.3644A>C (p.Asp1215Ala)
c.3563A>C (p.Asp1188Ala)
c.3494A>C (p.Asp1165Ala)
c.3362A>C (p.Asp1121Ala)
c.3230A>C (p.Asp1077Ala)
20g.32436095A>GCA408562943ASXL1c.3383A>G (p.Asp1128Gly)
c.3200A>G (p.Asp1067Gly)
n.5736A>G
c.1869+1514A>G (n.1869+1514A>G)
c.3368A>G (p.Asp1123Gly)
c.3380A>G (p.Asp1127Gly)
c.3353A>G (p.Asp1118Gly)
c.3299A>G (p.Asp1100Gly)
c.2699A>G (p.Asp900Gly)
c.3647A>G (p.Asp1216Gly)
c.3644A>G (p.Asp1215Gly)
c.3563A>G (p.Asp1188Gly)
c.3494A>G (p.Asp1165Gly)
c.3362A>G (p.Asp1121Gly)
c.3230A>G (p.Asp1077Gly)
20g.32436095A>TCA408562944ASXL1c.3383A>T (p.Asp1128Val)
c.3200A>T (p.Asp1067Val)
n.5736A>T
c.1869+1514A>T (n.1869+1514A>T)
c.3368A>T (p.Asp1123Val)
c.3380A>T (p.Asp1127Val)
c.3353A>T (p.Asp1118Val)
c.3299A>T (p.Asp1100Val)
c.2699A>T (p.Asp900Val)
c.3647A>T (p.Asp1216Val)
c.3644A>T (p.Asp1215Val)
c.3563A>T (p.Asp1188Val)
c.3494A>T (p.Asp1165Val)
c.3362A>T (p.Asp1121Val)
c.3230A>T (p.Asp1077Val)
20g.32436096C>ACA408562945ASXL1c.3384C>A (p.Asp1128Glu)
c.3201C>A (p.Asp1067Glu)
n.5737C>A
c.1869+1515C>A (n.1869+1515C>A)
c.3369C>A (p.Asp1123Glu)
c.3381C>A (p.Asp1127Glu)
c.3354C>A (p.Asp1118Glu)
c.3300C>A (p.Asp1100Glu)
c.2700C>A (p.Asp900Glu)
c.3648C>A (p.Asp1216Glu)
c.3645C>A (p.Asp1215Glu)
c.3564C>A (p.Asp1188Glu)
c.3495C>A (p.Asp1165Glu)
c.3363C>A (p.Asp1121Glu)
c.3231C>A (p.Asp1077Glu)
20g.32436096C=CA2360293530ASXL1c.3384C= (p.Asp1128=)
c.3201C= (p.Asp1067=)
n.5737C=
c.1869+1515C= (n.1869+1515C=)
c.3369C= (p.Asp1123=)
c.3381C= (p.Asp1127=)
c.3354C= (p.Asp1118=)
c.3300C= (p.Asp1100=)
c.2700C= (p.Asp900=)
c.3648C= (p.Asp1216=)
c.3645C= (p.Asp1215=)
c.3564C= (p.Asp1188=)
c.3495C= (p.Asp1165=)
c.3363C= (p.Asp1121=)
c.3231C= (p.Asp1077=)
20g.32436096C>GCA408562946ASXL1c.3384C>G (p.Asp1128Glu)
c.3201C>G (p.Asp1067Glu)
n.5737C>G
c.1869+1515C>G (n.1869+1515C>G)
c.3369C>G (p.Asp1123Glu)
c.3381C>G (p.Asp1127Glu)
c.3354C>G (p.Asp1118Glu)
c.3300C>G (p.Asp1100Glu)
c.2700C>G (p.Asp900Glu)
c.3648C>G (p.Asp1216Glu)
c.3645C>G (p.Asp1215Glu)
c.3564C>G (p.Asp1188Glu)
c.3495C>G (p.Asp1165Glu)
c.3363C>G (p.Asp1121Glu)
c.3231C>G (p.Asp1077Glu)
20g.32436096C>TCA9808808ASXL1c.3384C>T (p.Asp1128=)
c.3201C>T (p.Asp1067=)
n.5737C>T
c.1869+1515C>T (n.1869+1515C>T)
c.3369C>T (p.Asp1123=)
c.3381C>T (p.Asp1127=)
c.3354C>T (p.Asp1118=)
c.3300C>T (p.Asp1100=)
c.2700C>T (p.Asp900=)
c.3648C>T (p.Asp1216=)
c.3645C>T (p.Asp1215=)
c.3564C>T (p.Asp1188=)
c.3495C>T (p.Asp1165=)
c.3363C>T (p.Asp1121=)
c.3231C>T (p.Asp1077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436097A>CCA408562949ASXL1c.3385A>C (p.Ser1129Arg)
c.3202A>C (p.Ser1068Arg)
n.5738A>C
c.1869+1516A>C (n.1869+1516A>C)
c.3370A>C (p.Ser1124Arg)
c.3382A>C (p.Ser1128Arg)
c.3355A>C (p.Ser1119Arg)
c.3301A>C (p.Ser1101Arg)
c.2701A>C (p.Ser901Arg)
c.3649A>C (p.Ser1217Arg)
c.3646A>C (p.Ser1216Arg)
c.3565A>C (p.Ser1189Arg)
c.3496A>C (p.Ser1166Arg)
c.3364A>C (p.Ser1122Arg)
c.3232A>C (p.Ser1078Arg)
20g.32436097A>GCA408562948ASXL1c.3385A>G (p.Ser1129Gly)
c.3202A>G (p.Ser1068Gly)
n.5738A>G
c.1869+1516A>G (n.1869+1516A>G)
c.3370A>G (p.Ser1124Gly)
c.3382A>G (p.Ser1128Gly)
c.3355A>G (p.Ser1119Gly)
c.3301A>G (p.Ser1101Gly)
c.2701A>G (p.Ser901Gly)
c.3649A>G (p.Ser1217Gly)
c.3646A>G (p.Ser1216Gly)
c.3565A>G (p.Ser1189Gly)
c.3496A>G (p.Ser1166Gly)
c.3364A>G (p.Ser1122Gly)
c.3232A>G (p.Ser1078Gly)
20g.32436097A>TCA408562947ASXL1c.3385A>T (p.Ser1129Cys)
c.3202A>T (p.Ser1068Cys)
n.5738A>T
c.1869+1516A>T (n.1869+1516A>T)
c.3370A>T (p.Ser1124Cys)
c.3382A>T (p.Ser1128Cys)
c.3355A>T (p.Ser1119Cys)
c.3301A>T (p.Ser1101Cys)
c.2701A>T (p.Ser901Cys)
c.3649A>T (p.Ser1217Cys)
c.3646A>T (p.Ser1216Cys)
c.3565A>T (p.Ser1189Cys)
c.3496A>T (p.Ser1166Cys)
c.3364A>T (p.Ser1122Cys)
c.3232A>T (p.Ser1078Cys)
20g.32436098G>ACA408562950ASXL1c.3386G>A (p.Ser1129Asn)
c.3203G>A (p.Ser1068Asn)
n.5739G>A
c.1869+1517G>A (n.1869+1517G>A)
c.3371G>A (p.Ser1124Asn)
c.3383G>A (p.Ser1128Asn)
c.3356G>A (p.Ser1119Asn)
c.3302G>A (p.Ser1101Asn)
c.2702G>A (p.Ser901Asn)
c.3650G>A (p.Ser1217Asn)
c.3647G>A (p.Ser1216Asn)
c.3566G>A (p.Ser1189Asn)
c.3497G>A (p.Ser1166Asn)
c.3365G>A (p.Ser1122Asn)
c.3233G>A (p.Ser1078Asn)
 dbSNP gnomAD v4
20g.32436098G>CCA408562951ASXL1c.3386G>C (p.Ser1129Thr)
c.3203G>C (p.Ser1068Thr)
n.5739G>C
c.1869+1517G>C (n.1869+1517G>C)
c.3371G>C (p.Ser1124Thr)
c.3383G>C (p.Ser1128Thr)
c.3356G>C (p.Ser1119Thr)
c.3302G>C (p.Ser1101Thr)
c.2702G>C (p.Ser901Thr)
c.3650G>C (p.Ser1217Thr)
c.3647G>C (p.Ser1216Thr)
c.3566G>C (p.Ser1189Thr)
c.3497G>C (p.Ser1166Thr)
c.3365G>C (p.Ser1122Thr)
c.3233G>C (p.Ser1078Thr)
 dbSNP
20g.32436098G>TCA408562952ASXL1c.3386G>T (p.Ser1129Ile)
c.3203G>T (p.Ser1068Ile)
n.5739G>T
c.1869+1517G>T (n.1869+1517G>T)
c.3371G>T (p.Ser1124Ile)
c.3383G>T (p.Ser1128Ile)
c.3356G>T (p.Ser1119Ile)
c.3302G>T (p.Ser1101Ile)
c.2702G>T (p.Ser901Ile)
c.3650G>T (p.Ser1217Ile)
c.3647G>T (p.Ser1216Ile)
c.3566G>T (p.Ser1189Ile)
c.3497G>T (p.Ser1166Ile)
c.3365G>T (p.Ser1122Ile)
c.3233G>T (p.Ser1078Ile)
20g.32436099C>ACA408562953ASXL1c.3387C>A (p.Ser1129Arg)
c.3204C>A (p.Ser1068Arg)
n.5740C>A
c.1869+1518C>A (n.1869+1518C>A)
c.3372C>A (p.Ser1124Arg)
c.3384C>A (p.Ser1128Arg)
c.3357C>A (p.Ser1119Arg)
c.3303C>A (p.Ser1101Arg)
c.2703C>A (p.Ser901Arg)
c.3651C>A (p.Ser1217Arg)
c.3648C>A (p.Ser1216Arg)
c.3567C>A (p.Ser1189Arg)
c.3498C>A (p.Ser1166Arg)
c.3366C>A (p.Ser1122Arg)
c.3234C>A (p.Ser1078Arg)
 dbSNP
20g.32436099C>GCA408562954ASXL1c.3387C>G (p.Ser1129Arg)
c.3204C>G (p.Ser1068Arg)
n.5740C>G
c.1869+1518C>G (n.1869+1518C>G)
c.3372C>G (p.Ser1124Arg)
c.3384C>G (p.Ser1128Arg)
c.3357C>G (p.Ser1119Arg)
c.3303C>G (p.Ser1101Arg)
c.2703C>G (p.Ser901Arg)
c.3651C>G (p.Ser1217Arg)
c.3648C>G (p.Ser1216Arg)
c.3567C>G (p.Ser1189Arg)
c.3498C>G (p.Ser1166Arg)
c.3366C>G (p.Ser1122Arg)
c.3234C>G (p.Ser1078Arg)
20g.32436099C>TCA510467207ASXL1c.3387C>T (p.Ser1129=)
c.3204C>T (p.Ser1068=)
n.5740C>T
c.1869+1518C>T (n.1869+1518C>T)
c.3372C>T (p.Ser1124=)
c.3384C>T (p.Ser1128=)
c.3357C>T (p.Ser1119=)
c.3303C>T (p.Ser1101=)
c.2703C>T (p.Ser901=)
c.3651C>T (p.Ser1217=)
c.3648C>T (p.Ser1216=)
c.3567C>T (p.Ser1189=)
c.3498C>T (p.Ser1166=)
c.3366C>T (p.Ser1122=)
c.3234C>T (p.Ser1078=)
 dbSNP
20g.32436100A=CA2360293531ASXL1c.3388A= (p.Met1130=)
c.3205A= (p.Met1069=)
n.5741A=
c.1869+1519A= (n.1869+1519A=)
c.3373A= (p.Met1125=)
c.3385A= (p.Met1129=)
c.3358A= (p.Met1120=)
c.3304A= (p.Met1102=)
c.2704A= (p.Met902=)
c.3652A= (p.Met1218=)
c.3649A= (p.Met1217=)
c.3568A= (p.Met1190=)
c.3499A= (p.Met1167=)
c.3367A= (p.Met1123=)
c.3235A= (p.Met1079=)
20g.32436100A>CCA408562955ASXL1c.3388A>C (p.Met1130Leu)
c.3205A>C (p.Met1069Leu)
n.5741A>C
c.1869+1519A>C (n.1869+1519A>C)
c.3373A>C (p.Met1125Leu)
c.3385A>C (p.Met1129Leu)
c.3358A>C (p.Met1120Leu)
c.3304A>C (p.Met1102Leu)
c.2704A>C (p.Met902Leu)
c.3652A>C (p.Met1218Leu)
c.3649A>C (p.Met1217Leu)
c.3568A>C (p.Met1190Leu)
c.3499A>C (p.Met1167Leu)
c.3367A>C (p.Met1123Leu)
c.3235A>C (p.Met1079Leu)
 gnomAD v4
20g.32436100A>GCA408562956ASXL1c.3388A>G (p.Met1130Val)
c.3205A>G (p.Met1069Val)
n.5741A>G
c.1869+1519A>G (n.1869+1519A>G)
c.3373A>G (p.Met1125Val)
c.3385A>G (p.Met1129Val)
c.3358A>G (p.Met1120Val)
c.3304A>G (p.Met1102Val)
c.2704A>G (p.Met902Val)
c.3652A>G (p.Met1218Val)
c.3649A>G (p.Met1217Val)
c.3568A>G (p.Met1190Val)
c.3499A>G (p.Met1167Val)
c.3367A>G (p.Met1123Val)
c.3235A>G (p.Met1079Val)
 dbSNP gnomAD v4
20g.32436100A>TCA408562957ASXL1c.3388A>T (p.Met1130Leu)
c.3205A>T (p.Met1069Leu)
n.5741A>T
c.1869+1519A>T (n.1869+1519A>T)
c.3373A>T (p.Met1125Leu)
c.3385A>T (p.Met1129Leu)
c.3358A>T (p.Met1120Leu)
c.3304A>T (p.Met1102Leu)
c.2704A>T (p.Met902Leu)
c.3652A>T (p.Met1218Leu)
c.3649A>T (p.Met1217Leu)
c.3568A>T (p.Met1190Leu)
c.3499A>T (p.Met1167Leu)
c.3367A>T (p.Met1123Leu)
c.3235A>T (p.Met1079Leu)
 gnomAD v4
20g.32436101T>ACA408562958ASXL1c.3389T>A (p.Met1130Lys)
c.3206T>A (p.Met1069Lys)
n.5742T>A
c.1869+1520T>A (n.1869+1520T>A)
c.3374T>A (p.Met1125Lys)
c.3386T>A (p.Met1129Lys)
c.3359T>A (p.Met1120Lys)
c.3305T>A (p.Met1102Lys)
c.2705T>A (p.Met902Lys)
c.3653T>A (p.Met1218Lys)
c.3650T>A (p.Met1217Lys)
c.3569T>A (p.Met1190Lys)
c.3500T>A (p.Met1167Lys)
c.3368T>A (p.Met1123Lys)
c.3236T>A (p.Met1079Lys)
20g.32436101T>CCA408562959ASXL1c.3389T>C (p.Met1130Thr)
c.3206T>C (p.Met1069Thr)
n.5742T>C
c.1869+1520T>C (n.1869+1520T>C)
c.3374T>C (p.Met1125Thr)
c.3386T>C (p.Met1129Thr)
c.3359T>C (p.Met1120Thr)
c.3305T>C (p.Met1102Thr)
c.2705T>C (p.Met902Thr)
c.3653T>C (p.Met1218Thr)
c.3650T>C (p.Met1217Thr)
c.3569T>C (p.Met1190Thr)
c.3500T>C (p.Met1167Thr)
c.3368T>C (p.Met1123Thr)
c.3236T>C (p.Met1079Thr)
 gnomAD v4
20g.32436101T>GCA408562960ASXL1c.3389T>G (p.Met1130Arg)
c.3206T>G (p.Met1069Arg)
n.5742T>G
c.1869+1520T>G (n.1869+1520T>G)
c.3374T>G (p.Met1125Arg)
c.3386T>G (p.Met1129Arg)
c.3359T>G (p.Met1120Arg)
c.3305T>G (p.Met1102Arg)
c.2705T>G (p.Met902Arg)
c.3653T>G (p.Met1218Arg)
c.3650T>G (p.Met1217Arg)
c.3569T>G (p.Met1190Arg)
c.3500T>G (p.Met1167Arg)
c.3368T>G (p.Met1123Arg)
c.3236T>G (p.Met1079Arg)
20g.32436102G>ACA408562961ASXL1c.3390G>A (p.Met1130Ile)
c.3207G>A (p.Met1069Ile)
n.5743G>A
c.1869+1521G>A (n.1869+1521G>A)
c.3375G>A (p.Met1125Ile)
c.3387G>A (p.Met1129Ile)
c.3360G>A (p.Met1120Ile)
c.3306G>A (p.Met1102Ile)
c.2706G>A (p.Met902Ile)
c.3654G>A (p.Met1218Ile)
c.3651G>A (p.Met1217Ile)
c.3570G>A (p.Met1190Ile)
c.3501G>A (p.Met1167Ile)
c.3369G>A (p.Met1123Ile)
c.3237G>A (p.Met1079Ile)
20g.32436102G>CCA408562962ASXL1c.3390G>C (p.Met1130Ile)
c.3207G>C (p.Met1069Ile)
n.5743G>C
c.1869+1521G>C (n.1869+1521G>C)
c.3375G>C (p.Met1125Ile)
c.3387G>C (p.Met1129Ile)
c.3360G>C (p.Met1120Ile)
c.3306G>C (p.Met1102Ile)
c.2706G>C (p.Met902Ile)
c.3654G>C (p.Met1218Ile)
c.3651G>C (p.Met1217Ile)
c.3570G>C (p.Met1190Ile)
c.3501G>C (p.Met1167Ile)
c.3369G>C (p.Met1123Ile)
c.3237G>C (p.Met1079Ile)
 dbSNP
20g.32436102G>TCA408562963ASXL1c.3390G>T (p.Met1130Ile)
c.3207G>T (p.Met1069Ile)
n.5743G>T
c.1869+1521G>T (n.1869+1521G>T)
c.3375G>T (p.Met1125Ile)
c.3387G>T (p.Met1129Ile)
c.3360G>T (p.Met1120Ile)
c.3306G>T (p.Met1102Ile)
c.2706G>T (p.Met902Ile)
c.3654G>T (p.Met1218Ile)
c.3651G>T (p.Met1217Ile)
c.3570G>T (p.Met1190Ile)
c.3501G>T (p.Met1167Ile)
c.3369G>T (p.Met1123Ile)
c.3237G>T (p.Met1079Ile)
20g.32436103T>ACA408562965ASXL1c.3391T>A (p.Ser1131Thr)
c.3208T>A (p.Ser1070Thr)
n.5744T>A
c.1869+1522T>A (n.1869+1522T>A)
c.3376T>A (p.Ser1126Thr)
c.3388T>A (p.Ser1130Thr)
c.3361T>A (p.Ser1121Thr)
c.3307T>A (p.Ser1103Thr)
c.2707T>A (p.Ser903Thr)
c.3655T>A (p.Ser1219Thr)
c.3652T>A (p.Ser1218Thr)
c.3571T>A (p.Ser1191Thr)
c.3502T>A (p.Ser1168Thr)
c.3370T>A (p.Ser1124Thr)
c.3238T>A (p.Ser1080Thr)
20g.32436103T>CCA9808809ASXL1c.3391T>C (p.Ser1131Pro)
c.3208T>C (p.Ser1070Pro)
n.5744T>C
c.1869+1522T>C (n.1869+1522T>C)
c.3376T>C (p.Ser1126Pro)
c.3388T>C (p.Ser1130Pro)
c.3361T>C (p.Ser1121Pro)
c.3307T>C (p.Ser1103Pro)
c.2707T>C (p.Ser903Pro)
c.3655T>C (p.Ser1219Pro)
c.3652T>C (p.Ser1218Pro)
c.3571T>C (p.Ser1191Pro)
c.3502T>C (p.Ser1168Pro)
c.3370T>C (p.Ser1124Pro)
c.3238T>C (p.Ser1080Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436103T>GCA408562964ASXL1c.3391T>G (p.Ser1131Ala)
c.3208T>G (p.Ser1070Ala)
n.5744T>G
c.1869+1522T>G (n.1869+1522T>G)
c.3376T>G (p.Ser1126Ala)
c.3388T>G (p.Ser1130Ala)
c.3361T>G (p.Ser1121Ala)
c.3307T>G (p.Ser1103Ala)
c.2707T>G (p.Ser903Ala)
c.3655T>G (p.Ser1219Ala)
c.3652T>G (p.Ser1218Ala)
c.3571T>G (p.Ser1191Ala)
c.3502T>G (p.Ser1168Ala)
c.3370T>G (p.Ser1124Ala)
c.3238T>G (p.Ser1080Ala)
20g.32436103T=CA2360293532ASXL1c.3391T= (p.Ser1131=)
c.3208T= (p.Ser1070=)
n.5744T=
c.1869+1522T= (n.1869+1522T=)
c.3376T= (p.Ser1126=)
c.3388T= (p.Ser1130=)
c.3361T= (p.Ser1121=)
c.3307T= (p.Ser1103=)
c.2707T= (p.Ser903=)
c.3655T= (p.Ser1219=)
c.3652T= (p.Ser1218=)
c.3571T= (p.Ser1191=)
c.3502T= (p.Ser1168=)
c.3370T= (p.Ser1124=)
c.3238T= (p.Ser1080=)
20g.32436104C>ACA408562966ASXL1c.3392C>A (p.Ser1131Ter)
c.3209C>A (p.Ser1070Ter)
n.5745C>A
c.1869+1523C>A (n.1869+1523C>A)
c.3377C>A (p.Ser1126Ter)
c.3389C>A (p.Ser1130Ter)
c.3362C>A (p.Ser1121Ter)
c.3308C>A (p.Ser1103Ter)
c.2708C>A (p.Ser903Ter)
c.3656C>A (p.Ser1219Ter)
c.3653C>A (p.Ser1218Ter)
c.3572C>A (p.Ser1191Ter)
c.3503C>A (p.Ser1168Ter)
c.3371C>A (p.Ser1124Ter)
c.3239C>A (p.Ser1080Ter)
20g.32436104C=CA2360293533ASXL1c.3392C= (p.Ser1131=)
c.3209C= (p.Ser1070=)
n.5745C=
c.1869+1523C= (n.1869+1523C=)
c.3377C= (p.Ser1126=)
c.3389C= (p.Ser1130=)
c.3362C= (p.Ser1121=)
c.3308C= (p.Ser1103=)
c.2708C= (p.Ser903=)
c.3656C= (p.Ser1219=)
c.3653C= (p.Ser1218=)
c.3572C= (p.Ser1191=)
c.3503C= (p.Ser1168=)
c.3371C= (p.Ser1124=)
c.3239C= (p.Ser1080=)
20g.32436104C>GCA408562967ASXL1c.3392C>G (p.Ser1131Ter)
c.3209C>G (p.Ser1070Ter)
n.5745C>G
c.1869+1523C>G (n.1869+1523C>G)
c.3377C>G (p.Ser1126Ter)
c.3389C>G (p.Ser1130Ter)
c.3362C>G (p.Ser1121Ter)
c.3308C>G (p.Ser1103Ter)
c.2708C>G (p.Ser903Ter)
c.3656C>G (p.Ser1219Ter)
c.3653C>G (p.Ser1218Ter)
c.3572C>G (p.Ser1191Ter)
c.3503C>G (p.Ser1168Ter)
c.3371C>G (p.Ser1124Ter)
c.3239C>G (p.Ser1080Ter)
20g.32436104C>TCA408562968ASXL1c.3392C>T (p.Ser1131Leu)
c.3209C>T (p.Ser1070Leu)
n.5745C>T
c.1869+1523C>T (n.1869+1523C>T)
c.3377C>T (p.Ser1126Leu)
c.3389C>T (p.Ser1130Leu)
c.3362C>T (p.Ser1121Leu)
c.3308C>T (p.Ser1103Leu)
c.2708C>T (p.Ser903Leu)
c.3656C>T (p.Ser1219Leu)
c.3653C>T (p.Ser1218Leu)
c.3572C>T (p.Ser1191Leu)
c.3503C>T (p.Ser1168Leu)
c.3371C>T (p.Ser1124Leu)
c.3239C>T (p.Ser1080Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436105A>CCA510467218ASXL1c.3393A>C (p.Ser1131=)
c.3210A>C (p.Ser1070=)
n.5746A>C
c.1869+1524A>C (n.1869+1524A>C)
c.3378A>C (p.Ser1126=)
c.3390A>C (p.Ser1130=)
c.3363A>C (p.Ser1121=)
c.3309A>C (p.Ser1103=)
c.2709A>C (p.Ser903=)
c.3657A>C (p.Ser1219=)
c.3654A>C (p.Ser1218=)
c.3573A>C (p.Ser1191=)
c.3504A>C (p.Ser1168=)
c.3372A>C (p.Ser1124=)
c.3240A>C (p.Ser1080=)
20g.32436105A>GCA510467216ASXL1c.3393A>G (p.Ser1131=)
c.3210A>G (p.Ser1070=)
n.5746A>G
c.1869+1524A>G (n.1869+1524A>G)
c.3378A>G (p.Ser1126=)
c.3390A>G (p.Ser1130=)
c.3363A>G (p.Ser1121=)
c.3309A>G (p.Ser1103=)
c.2709A>G (p.Ser903=)
c.3657A>G (p.Ser1219=)
c.3654A>G (p.Ser1218=)
c.3573A>G (p.Ser1191=)
c.3504A>G (p.Ser1168=)
c.3372A>G (p.Ser1124=)
c.3240A>G (p.Ser1080=)
20g.32436105A>TCA510467217ASXL1c.3393A>T (p.Ser1131=)
c.3210A>T (p.Ser1070=)
n.5746A>T
c.1869+1524A>T (n.1869+1524A>T)
c.3378A>T (p.Ser1126=)
c.3390A>T (p.Ser1130=)
c.3363A>T (p.Ser1121=)
c.3309A>T (p.Ser1103=)
c.2709A>T (p.Ser903=)
c.3657A>T (p.Ser1219=)
c.3654A>T (p.Ser1218=)
c.3573A>T (p.Ser1191=)
c.3504A>T (p.Ser1168=)
c.3372A>T (p.Ser1124=)
c.3240A>T (p.Ser1080=)
 gnomAD v4
20g.32436106G>ACA408562969ASXL1c.3394G>A (p.Glu1132Lys)
c.3211G>A (p.Glu1071Lys)
n.5747G>A
c.1869+1525G>A (n.1869+1525G>A)
c.3379G>A (p.Glu1127Lys)
c.3391G>A (p.Glu1131Lys)
c.3364G>A (p.Glu1122Lys)
c.3310G>A (p.Glu1104Lys)
c.2710G>A (p.Glu904Lys)
c.3658G>A (p.Glu1220Lys)
c.3655G>A (p.Glu1219Lys)
c.3574G>A (p.Glu1192Lys)
c.3505G>A (p.Glu1169Lys)
c.3373G>A (p.Glu1125Lys)
c.3241G>A (p.Glu1081Lys)
 dbSNP
20g.32436106G>CCA408562970ASXL1c.3394G>C (p.Glu1132Gln)
c.3211G>C (p.Glu1071Gln)
n.5747G>C
c.1869+1525G>C (n.1869+1525G>C)
c.3379G>C (p.Glu1127Gln)
c.3391G>C (p.Glu1131Gln)
c.3364G>C (p.Glu1122Gln)
c.3310G>C (p.Glu1104Gln)
c.2710G>C (p.Glu904Gln)
c.3658G>C (p.Glu1220Gln)
c.3655G>C (p.Glu1219Gln)
c.3574G>C (p.Glu1192Gln)
c.3505G>C (p.Glu1169Gln)
c.3373G>C (p.Glu1125Gln)
c.3241G>C (p.Glu1081Gln)
20g.32436106G>TCA408562971ASXL1c.3394G>T (p.Glu1132Ter)
c.3211G>T (p.Glu1071Ter)
n.5747G>T
c.1869+1525G>T (n.1869+1525G>T)
c.3379G>T (p.Glu1127Ter)
c.3391G>T (p.Glu1131Ter)
c.3364G>T (p.Glu1122Ter)
c.3310G>T (p.Glu1104Ter)
c.2710G>T (p.Glu904Ter)
c.3658G>T (p.Glu1220Ter)
c.3655G>T (p.Glu1219Ter)
c.3574G>T (p.Glu1192Ter)
c.3505G>T (p.Glu1169Ter)
c.3373G>T (p.Glu1125Ter)
c.3241G>T (p.Glu1081Ter)
20g.32436107A>CCA408562972ASXL1c.3395A>C (p.Glu1132Ala)
c.3212A>C (p.Glu1071Ala)
n.5748A>C
c.1869+1526A>C (n.1869+1526A>C)
c.3380A>C (p.Glu1127Ala)
c.3392A>C (p.Glu1131Ala)
c.3365A>C (p.Glu1122Ala)
c.3311A>C (p.Glu1104Ala)
c.2711A>C (p.Glu904Ala)
c.3659A>C (p.Glu1220Ala)
c.3656A>C (p.Glu1219Ala)
c.3575A>C (p.Glu1192Ala)
c.3506A>C (p.Glu1169Ala)
c.3374A>C (p.Glu1125Ala)
c.3242A>C (p.Glu1081Ala)
20g.32436107A>GCA408562973ASXL1c.3395A>G (p.Glu1132Gly)
c.3212A>G (p.Glu1071Gly)
n.5748A>G
c.1869+1526A>G (n.1869+1526A>G)
c.3380A>G (p.Glu1127Gly)
c.3392A>G (p.Glu1131Gly)
c.3365A>G (p.Glu1122Gly)
c.3311A>G (p.Glu1104Gly)
c.2711A>G (p.Glu904Gly)
c.3659A>G (p.Glu1220Gly)
c.3656A>G (p.Glu1219Gly)
c.3575A>G (p.Glu1192Gly)
c.3506A>G (p.Glu1169Gly)
c.3374A>G (p.Glu1125Gly)
c.3242A>G (p.Glu1081Gly)
20g.32436107A>TCA408562974ASXL1c.3395A>T (p.Glu1132Val)
c.3212A>T (p.Glu1071Val)
n.5748A>T
c.1869+1526A>T (n.1869+1526A>T)
c.3380A>T (p.Glu1127Val)
c.3392A>T (p.Glu1131Val)
c.3365A>T (p.Glu1122Val)
c.3311A>T (p.Glu1104Val)
c.2711A>T (p.Glu904Val)
c.3659A>T (p.Glu1220Val)
c.3656A>T (p.Glu1219Val)
c.3575A>T (p.Glu1192Val)
c.3506A>T (p.Glu1169Val)
c.3374A>T (p.Glu1125Val)
c.3242A>T (p.Glu1081Val)
20g.32436107_32436108delCA2736732130ASXL1c.3395_3396del (p.Glu1132ValfsTer?)
c.3212_3213del (p.Glu1071ValfsTer?)
n.5748_5749del
c.1869+1526_1869+1527del (n.1869+1526_1869+1527del)
c.3380_3381del (p.Glu1127ValfsTer?)
c.3392_3393del (p.Glu1131ValfsTer?)
c.3365_3366del (p.Glu1122ValfsTer?)
c.3311_3312del (p.Glu1104ValfsTer?)
c.2711_2712del (p.Glu904ValfsTer?)
c.3659_3660del (p.Glu1220ValfsTer?)
c.3656_3657del (p.Glu1219ValfsTer?)
c.3575_3576del (p.Glu1192ValfsTer?)
c.3506_3507del (p.Glu1169ValfsTer?)
c.3374_3375del (p.Glu1125ValfsTer?)
c.3242_3243del (p.Glu1081ValfsTer?)
 dbSNP
20g.32436108A>CCA408562975ASXL1c.3396A>C (p.Glu1132Asp)
c.3213A>C (p.Glu1071Asp)
n.5749A>C
c.1869+1527A>C (n.1869+1527A>C)
c.3381A>C (p.Glu1127Asp)
c.3393A>C (p.Glu1131Asp)
c.3366A>C (p.Glu1122Asp)
c.3312A>C (p.Glu1104Asp)
c.2712A>C (p.Glu904Asp)
c.3660A>C (p.Glu1220Asp)
c.3657A>C (p.Glu1219Asp)
c.3576A>C (p.Glu1192Asp)
c.3507A>C (p.Glu1169Asp)
c.3375A>C (p.Glu1125Asp)
c.3243A>C (p.Glu1081Asp)
20g.32436108A>GCA510467222ASXL1c.3396A>G (p.Glu1132=)
c.3213A>G (p.Glu1071=)
n.5749A>G
c.1869+1527A>G (n.1869+1527A>G)
c.3381A>G (p.Glu1127=)
c.3393A>G (p.Glu1131=)
c.3366A>G (p.Glu1122=)
c.3312A>G (p.Glu1104=)
c.2712A>G (p.Glu904=)
c.3660A>G (p.Glu1220=)
c.3657A>G (p.Glu1219=)
c.3576A>G (p.Glu1192=)
c.3507A>G (p.Glu1169=)
c.3375A>G (p.Glu1125=)
c.3243A>G (p.Glu1081=)
20g.32436108A>TCA408562976ASXL1c.3396A>T (p.Glu1132Asp)
c.3213A>T (p.Glu1071Asp)
n.5749A>T
c.1869+1527A>T (n.1869+1527A>T)
c.3381A>T (p.Glu1127Asp)
c.3393A>T (p.Glu1131Asp)
c.3366A>T (p.Glu1122Asp)
c.3312A>T (p.Glu1104Asp)
c.2712A>T (p.Glu904Asp)
c.3660A>T (p.Glu1220Asp)
c.3657A>T (p.Glu1219Asp)
c.3576A>T (p.Glu1192Asp)
c.3507A>T (p.Glu1169Asp)
c.3375A>T (p.Glu1125Asp)
c.3243A>T (p.Glu1081Asp)
 gnomAD v4
20g.32436109T>ACA408562977ASXL1c.3397T>A (p.Ser1133Thr)
c.3214T>A (p.Ser1072Thr)
n.5750T>A
c.1869+1528T>A (n.1869+1528T>A)
c.3382T>A (p.Ser1128Thr)
c.3394T>A (p.Ser1132Thr)
c.3367T>A (p.Ser1123Thr)
c.3313T>A (p.Ser1105Thr)
c.2713T>A (p.Ser905Thr)
c.3661T>A (p.Ser1221Thr)
c.3658T>A (p.Ser1220Thr)
c.3577T>A (p.Ser1193Thr)
c.3508T>A (p.Ser1170Thr)
c.3376T>A (p.Ser1126Thr)
c.3244T>A (p.Ser1082Thr)
 dbSNP
20g.32436109T>CCA408562978ASXL1c.3397T>C (p.Ser1133Pro)
c.3214T>C (p.Ser1072Pro)
n.5750T>C
c.1869+1528T>C (n.1869+1528T>C)
c.3382T>C (p.Ser1128Pro)
c.3394T>C (p.Ser1132Pro)
c.3367T>C (p.Ser1123Pro)
c.3313T>C (p.Ser1105Pro)
c.2713T>C (p.Ser905Pro)
c.3661T>C (p.Ser1221Pro)
c.3658T>C (p.Ser1220Pro)
c.3577T>C (p.Ser1193Pro)
c.3508T>C (p.Ser1170Pro)
c.3376T>C (p.Ser1126Pro)
c.3244T>C (p.Ser1082Pro)
 dbSNP
20g.32436109T>GCA408562979ASXL1c.3397T>G (p.Ser1133Ala)
c.3214T>G (p.Ser1072Ala)
n.5750T>G
c.1869+1528T>G (n.1869+1528T>G)
c.3382T>G (p.Ser1128Ala)
c.3394T>G (p.Ser1132Ala)
c.3367T>G (p.Ser1123Ala)
c.3313T>G (p.Ser1105Ala)
c.2713T>G (p.Ser905Ala)
c.3661T>G (p.Ser1221Ala)
c.3658T>G (p.Ser1220Ala)
c.3577T>G (p.Ser1193Ala)
c.3508T>G (p.Ser1170Ala)
c.3376T>G (p.Ser1126Ala)
c.3244T>G (p.Ser1082Ala)
20g.32436109T=CA2360293534ASXL1c.3397T= (p.Ser1133=)
c.3214T= (p.Ser1072=)
n.5750T=
c.1869+1528T= (n.1869+1528T=)
c.3382T= (p.Ser1128=)
c.3394T= (p.Ser1132=)
c.3367T= (p.Ser1123=)
c.3313T= (p.Ser1105=)
c.2713T= (p.Ser905=)
c.3661T= (p.Ser1221=)
c.3658T= (p.Ser1220=)
c.3577T= (p.Ser1193=)
c.3508T= (p.Ser1170=)
c.3376T= (p.Ser1126=)
c.3244T= (p.Ser1082=)
20g.32436110C>ACA408562981ASXL1c.3398C>A (p.Ser1133Tyr)
c.3215C>A (p.Ser1072Tyr)
n.5751C>A
c.1869+1529C>A (n.1869+1529C>A)
c.3383C>A (p.Ser1128Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3368C>A (p.Ser1123Tyr)
c.3314C>A (p.Ser1105Tyr)
c.2714C>A (p.Ser905Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3659C>A (p.Ser1220Tyr)
c.3578C>A (p.Ser1193Tyr)
c.3509C>A (p.Ser1170Tyr)
c.3377C>A (p.Ser1126Tyr)
c.3245C>A (p.Ser1082Tyr)
20g.32436110C=CA2360293535ASXL1c.3398C= (p.Ser1133=)
c.3215C= (p.Ser1072=)
n.5751C=
c.1869+1529C= (n.1869+1529C=)
c.3383C= (p.Ser1128=)
c.3395C= (p.Ser1132=)
c.3368C= (p.Ser1123=)
c.3314C= (p.Ser1105=)
c.2714C= (p.Ser905=)
c.3662C= (p.Ser1221=)
c.3659C= (p.Ser1220=)
c.3578C= (p.Ser1193=)
c.3509C= (p.Ser1170=)
c.3377C= (p.Ser1126=)
c.3245C= (p.Ser1082=)
20g.32436110C>GCA408562982ASXL1c.3398C>G (p.Ser1133Cys)
c.3215C>G (p.Ser1072Cys)
n.5751C>G
c.1869+1529C>G (n.1869+1529C>G)
c.3383C>G (p.Ser1128Cys)
c.3395C>G (p.Ser1132Cys)
c.3368C>G (p.Ser1123Cys)
c.3314C>G (p.Ser1105Cys)
c.2714C>G (p.Ser905Cys)
c.3662C>G (p.Ser1221Cys)
c.3659C>G (p.Ser1220Cys)
c.3578C>G (p.Ser1193Cys)
c.3509C>G (p.Ser1170Cys)
c.3377C>G (p.Ser1126Cys)
c.3245C>G (p.Ser1082Cys)
20g.32436110C>TCA408562980ASXL1c.3398C>T (p.Ser1133Phe)
c.3215C>T (p.Ser1072Phe)
n.5751C>T
c.1869+1529C>T (n.1869+1529C>T)
c.3383C>T (p.Ser1128Phe)
c.3395C>T (p.Ser1132Phe)
c.3368C>T (p.Ser1123Phe)
c.3314C>T (p.Ser1105Phe)
c.2714C>T (p.Ser905Phe)
c.3662C>T (p.Ser1221Phe)
c.3659C>T (p.Ser1220Phe)
c.3578C>T (p.Ser1193Phe)
c.3509C>T (p.Ser1170Phe)
c.3377C>T (p.Ser1126Phe)
c.3245C>T (p.Ser1082Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32436113dupCA313926344ASXL1c.3401dup (p.Gln1135ThrfsTer29)
c.3218dup (p.Gln1074ThrfsTer29)
n.5754dup
c.1869+1532dup (n.1869+1532dup)
c.3386dup (p.Gln1130ThrfsTer29)
c.3398dup (p.Gln1134ThrfsTer29)
c.3371dup (p.Gln1125ThrfsTer29)
c.3317dup (p.Gln1107ThrfsTer29)
c.2717dup (p.Gln907ThrfsTer29)
c.3665dup (p.Gln1223ThrfsTer29)
c.3662dup (p.Gln1222ThrfsTer29)
c.3581dup (p.Gln1195ThrfsTer29)
c.3512dup (p.Gln1172ThrfsTer29)
c.3380dup (p.Gln1128ThrfsTer29)
c.3248dup (p.Gln1084ThrfsTer29)
 dbSNP
20g.32436111C>ACA510467224ASXL1c.3399C>A (p.Ser1133=)
c.3216C>A (p.Ser1072=)
n.5752C>A
c.1869+1530C>A (n.1869+1530C>A)
c.3384C>A (p.Ser1128=)
c.3396C>A (p.Ser1132=)
c.3369C>A (p.Ser1123=)
c.3315C>A (p.Ser1105=)
c.2715C>A (p.Ser905=)
c.3663C>A (p.Ser1221=)
c.3660C>A (p.Ser1220=)
c.3579C>A (p.Ser1193=)
c.3510C>A (p.Ser1170=)
c.3378C>A (p.Ser1126=)
c.3246C>A (p.Ser1082=)
20g.32436111C=CA2360293536ASXL1c.3399C= (p.Ser1133=)
c.3216C= (p.Ser1072=)
n.5752C=
c.1869+1530C= (n.1869+1530C=)
c.3384C= (p.Ser1128=)
c.3396C= (p.Ser1132=)
c.3369C= (p.Ser1123=)
c.3315C= (p.Ser1105=)
c.2715C= (p.Ser905=)
c.3663C= (p.Ser1221=)
c.3660C= (p.Ser1220=)
c.3579C= (p.Ser1193=)
c.3510C= (p.Ser1170=)
c.3378C= (p.Ser1126=)
c.3246C= (p.Ser1082=)
20g.32436111C>GCA9808810ASXL1c.3399C>G (p.Ser1133=)
c.3216C>G (p.Ser1072=)
n.5752C>G
c.1869+1530C>G (n.1869+1530C>G)
c.3384C>G (p.Ser1128=)
c.3396C>G (p.Ser1132=)
c.3369C>G (p.Ser1123=)
c.3315C>G (p.Ser1105=)
c.2715C>G (p.Ser905=)
c.3663C>G (p.Ser1221=)
c.3660C>G (p.Ser1220=)
c.3579C>G (p.Ser1193=)
c.3510C>G (p.Ser1170=)
c.3378C>G (p.Ser1126=)
c.3246C>G (p.Ser1082=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436111C>TCA510467223ASXL1c.3399C>T (p.Ser1133=)
c.3216C>T (p.Ser1072=)
n.5752C>T
c.1869+1530C>T (n.1869+1530C>T)
c.3384C>T (p.Ser1128=)
c.3396C>T (p.Ser1132=)
c.3369C>T (p.Ser1123=)
c.3315C>T (p.Ser1105=)
c.2715C>T (p.Ser905=)
c.3663C>T (p.Ser1221=)
c.3660C>T (p.Ser1220=)
c.3579C>T (p.Ser1193=)
c.3510C>T (p.Ser1170=)
c.3378C>T (p.Ser1126=)
c.3246C>T (p.Ser1082=)
 gnomAD v4 COSMIC COSMIC
20g.32436112C>ACA408562983ASXL1c.3400C>A (p.Pro1134Thr)
c.3217C>A (p.Pro1073Thr)
n.5753C>A
c.1869+1531C>A (n.1869+1531C>A)
c.3385C>A (p.Pro1129Thr)
c.3397C>A (p.Pro1133Thr)
c.3370C>A (p.Pro1124Thr)
c.3316C>A (p.Pro1106Thr)
c.2716C>A (p.Pro906Thr)
c.3664C>A (p.Pro1222Thr)
c.3661C>A (p.Pro1221Thr)
c.3580C>A (p.Pro1194Thr)
c.3511C>A (p.Pro1171Thr)
c.3379C>A (p.Pro1127Thr)
c.3247C>A (p.Pro1083Thr)
20g.32436112C=CA2360293537ASXL1c.3400C= (p.Pro1134=)
c.3217C= (p.Pro1073=)
n.5753C=
c.1869+1531C= (n.1869+1531C=)
c.3385C= (p.Pro1129=)
c.3397C= (p.Pro1133=)
c.3370C= (p.Pro1124=)
c.3316C= (p.Pro1106=)
c.2716C= (p.Pro906=)
c.3664C= (p.Pro1222=)
c.3661C= (p.Pro1221=)
c.3580C= (p.Pro1194=)
c.3511C= (p.Pro1171=)
c.3379C= (p.Pro1127=)
c.3247C= (p.Pro1083=)
20g.32436112C>GCA408562984ASXL1c.3400C>G (p.Pro1134Ala)
c.3217C>G (p.Pro1073Ala)
n.5753C>G
c.1869+1531C>G (n.1869+1531C>G)
c.3385C>G (p.Pro1129Ala)
c.3397C>G (p.Pro1133Ala)
c.3370C>G (p.Pro1124Ala)
c.3316C>G (p.Pro1106Ala)
c.2716C>G (p.Pro906Ala)
c.3664C>G (p.Pro1222Ala)
c.3661C>G (p.Pro1221Ala)
c.3580C>G (p.Pro1194Ala)
c.3511C>G (p.Pro1171Ala)
c.3379C>G (p.Pro1127Ala)
c.3247C>G (p.Pro1083Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.32436112C>TCA408562985ASXL1c.3400C>T (p.Pro1134Ser)
c.3217C>T (p.Pro1073Ser)
n.5753C>T
c.1869+1531C>T (n.1869+1531C>T)
c.3385C>T (p.Pro1129Ser)
c.3397C>T (p.Pro1133Ser)
c.3370C>T (p.Pro1124Ser)
c.3316C>T (p.Pro1106Ser)
c.2716C>T (p.Pro906Ser)
c.3664C>T (p.Pro1222Ser)
c.3661C>T (p.Pro1221Ser)
c.3580C>T (p.Pro1194Ser)
c.3511C>T (p.Pro1171Ser)
c.3379C>T (p.Pro1127Ser)
c.3247C>T (p.Pro1083Ser)
20g.32436113_32436115delCA2652401199ASXL1c.3401_3403del (p.Pro1134del)
c.3218_3220del (p.Pro1073del)
n.5754_5756del
c.1869+1532_1869+1534del (n.1869+1532_1869+1534del)
c.3386_3388del (p.Pro1129del)
c.3398_3400del (p.Pro1133del)
c.3371_3373del (p.Pro1124del)
c.3317_3319del (p.Pro1106del)
c.2717_2719del (p.Pro906del)
c.3665_3667del (p.Pro1222del)
c.3662_3664del (p.Pro1221del)
c.3581_3583del (p.Pro1194del)
c.3512_3514del (p.Pro1171del)
c.3380_3382del (p.Pro1127del)
c.3248_3250del (p.Pro1083del)
 gnomAD v4
20g.32436113C>ACA408562986ASXL1c.3401C>A (p.Pro1134Gln)
c.3218C>A (p.Pro1073Gln)
n.5754C>A
c.1869+1532C>A (n.1869+1532C>A)
c.3386C>A (p.Pro1129Gln)
c.3398C>A (p.Pro1133Gln)
c.3371C>A (p.Pro1124Gln)
c.3317C>A (p.Pro1106Gln)
c.2717C>A (p.Pro906Gln)
c.3665C>A (p.Pro1222Gln)
c.3662C>A (p.Pro1221Gln)
c.3581C>A (p.Pro1194Gln)
c.3512C>A (p.Pro1171Gln)
c.3380C>A (p.Pro1127Gln)
c.3248C>A (p.Pro1083Gln)
20g.32436113C=CA2360293538ASXL1c.3401C= (p.Pro1134=)
c.3218C= (p.Pro1073=)
n.5754C=
c.1869+1532C= (n.1869+1532C=)
c.3386C= (p.Pro1129=)
c.3398C= (p.Pro1133=)
c.3371C= (p.Pro1124=)
c.3317C= (p.Pro1106=)
c.2717C= (p.Pro906=)
c.3665C= (p.Pro1222=)
c.3662C= (p.Pro1221=)
c.3581C= (p.Pro1194=)
c.3512C= (p.Pro1171=)
c.3380C= (p.Pro1127=)
c.3248C= (p.Pro1083=)
20g.32436113C>GCA408562987ASXL1c.3401C>G (p.Pro1134Arg)
c.3218C>G (p.Pro1073Arg)
n.5754C>G
c.1869+1532C>G (n.1869+1532C>G)
c.3386C>G (p.Pro1129Arg)
c.3398C>G (p.Pro1133Arg)
c.3371C>G (p.Pro1124Arg)
c.3317C>G (p.Pro1106Arg)
c.2717C>G (p.Pro906Arg)
c.3665C>G (p.Pro1222Arg)
c.3662C>G (p.Pro1221Arg)
c.3581C>G (p.Pro1194Arg)
c.3512C>G (p.Pro1171Arg)
c.3380C>G (p.Pro1127Arg)
c.3248C>G (p.Pro1083Arg)
20g.32436113C>TCA9808811ASXL1c.3401C>T (p.Pro1134Leu)
c.3218C>T (p.Pro1073Leu)
n.5754C>T
c.1869+1532C>T (n.1869+1532C>T)
c.3386C>T (p.Pro1129Leu)
c.3398C>T (p.Pro1133Leu)
c.3371C>T (p.Pro1124Leu)
c.3317C>T (p.Pro1106Leu)
c.2717C>T (p.Pro906Leu)
c.3665C>T (p.Pro1222Leu)
c.3662C>T (p.Pro1221Leu)
c.3581C>T (p.Pro1194Leu)
c.3512C>T (p.Pro1171Leu)
c.3380C>T (p.Pro1127Leu)
c.3248C>T (p.Pro1083Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436114A>CCA510467225ASXL1c.3402A>C (p.Pro1134=)
c.3219A>C (p.Pro1073=)
n.5755A>C
c.1869+1533A>C (n.1869+1533A>C)
c.3387A>C (p.Pro1129=)
c.3399A>C (p.Pro1133=)
c.3372A>C (p.Pro1124=)
c.3318A>C (p.Pro1106=)
c.2718A>C (p.Pro906=)
c.3666A>C (p.Pro1222=)
c.3663A>C (p.Pro1221=)
c.3582A>C (p.Pro1194=)
c.3513A>C (p.Pro1171=)
c.3381A>C (p.Pro1127=)
c.3249A>C (p.Pro1083=)
20g.32436114A>GCA510467226ASXL1c.3402A>G (p.Pro1134=)
c.3219A>G (p.Pro1073=)
n.5755A>G
c.1869+1533A>G (n.1869+1533A>G)
c.3387A>G (p.Pro1129=)
c.3399A>G (p.Pro1133=)
c.3372A>G (p.Pro1124=)
c.3318A>G (p.Pro1106=)
c.2718A>G (p.Pro906=)
c.3666A>G (p.Pro1222=)
c.3663A>G (p.Pro1221=)
c.3582A>G (p.Pro1194=)
c.3513A>G (p.Pro1171=)
c.3381A>G (p.Pro1127=)
c.3249A>G (p.Pro1083=)
20g.32436114A>TCA510467227ASXL1c.3402A>T (p.Pro1134=)
c.3219A>T (p.Pro1073=)
n.5755A>T
c.1869+1533A>T (n.1869+1533A>T)
c.3387A>T (p.Pro1129=)
c.3399A>T (p.Pro1133=)
c.3372A>T (p.Pro1124=)
c.3318A>T (p.Pro1106=)
c.2718A>T (p.Pro906=)
c.3666A>T (p.Pro1222=)
c.3663A>T (p.Pro1221=)
c.3582A>T (p.Pro1194=)
c.3513A>T (p.Pro1171=)
c.3381A>T (p.Pro1127=)
c.3249A>T (p.Pro1083=)
 gnomAD v4
20g.32436115delCA2577366299ASXL1c.3403del (p.Gln1135LysfsTer?)
c.3220del (p.Gln1074LysfsTer?)
n.5756del
c.1869+1534del (n.1869+1534del)
c.3388del (p.Gln1130LysfsTer?)
c.3400del (p.Gln1134LysfsTer?)
c.3373del (p.Gln1125LysfsTer?)
c.3319del (p.Gln1107LysfsTer?)
c.2719del (p.Gln907LysfsTer?)
c.3667del (p.Gln1223LysfsTer?)
c.3664del (p.Gln1222LysfsTer?)
c.3583del (p.Gln1195LysfsTer?)
c.3514del (p.Gln1172LysfsTer?)
c.3382del (p.Gln1128LysfsTer?)
c.3250del (p.Gln1084LysfsTer?)
20g.32436115C>ACA408562988ASXL1c.3403C>A (p.Gln1135Lys)
c.3220C>A (p.Gln1074Lys)
n.5756C>A
c.1869+1534C>A (n.1869+1534C>A)
c.3388C>A (p.Gln1130Lys)
c.3400C>A (p.Gln1134Lys)
c.3373C>A (p.Gln1125Lys)
c.3319C>A (p.Gln1107Lys)
c.2719C>A (p.Gln907Lys)
c.3667C>A (p.Gln1223Lys)
c.3664C>A (p.Gln1222Lys)
c.3583C>A (p.Gln1195Lys)
c.3514C>A (p.Gln1172Lys)
c.3382C>A (p.Gln1128Lys)
c.3250C>A (p.Gln1084Lys)
20g.32436115C=CA2360293539ASXL1c.3403C= (p.Gln1135=)
c.3220C= (p.Gln1074=)
n.5756C=
c.1869+1534C= (n.1869+1534C=)
c.3388C= (p.Gln1130=)
c.3400C= (p.Gln1134=)
c.3373C= (p.Gln1125=)
c.3319C= (p.Gln1107=)
c.2719C= (p.Gln907=)
c.3667C= (p.Gln1223=)
c.3664C= (p.Gln1222=)
c.3583C= (p.Gln1195=)
c.3514C= (p.Gln1172=)
c.3382C= (p.Gln1128=)
c.3250C= (p.Gln1084=)
20g.32436115C>GCA408562989ASXL1c.3403C>G (p.Gln1135Glu)
c.3220C>G (p.Gln1074Glu)
n.5756C>G
c.1869+1534C>G (n.1869+1534C>G)
c.3388C>G (p.Gln1130Glu)
c.3400C>G (p.Gln1134Glu)
c.3373C>G (p.Gln1125Glu)
c.3319C>G (p.Gln1107Glu)
c.2719C>G (p.Gln907Glu)
c.3667C>G (p.Gln1223Glu)
c.3664C>G (p.Gln1222Glu)
c.3583C>G (p.Gln1195Glu)
c.3514C>G (p.Gln1172Glu)
c.3382C>G (p.Gln1128Glu)
c.3250C>G (p.Gln1084Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436115C>TCA408562990ASXL1c.3403C>T (p.Gln1135Ter)
c.3220C>T (p.Gln1074Ter)
n.5756C>T
c.1869+1534C>T (n.1869+1534C>T)
c.3388C>T (p.Gln1130Ter)
c.3400C>T (p.Gln1134Ter)
c.3373C>T (p.Gln1125Ter)
c.3319C>T (p.Gln1107Ter)
c.2719C>T (p.Gln907Ter)
c.3667C>T (p.Gln1223Ter)
c.3664C>T (p.Gln1222Ter)
c.3583C>T (p.Gln1195Ter)
c.3514C>T (p.Gln1172Ter)
c.3382C>T (p.Gln1128Ter)
c.3250C>T (p.Gln1084Ter)
20g.32436116A=CA2360293540ASXL1c.3404A= (p.Gln1135=)
c.3221A= (p.Gln1074=)
n.5757A=
c.1869+1535A= (n.1869+1535A=)
c.3389A= (p.Gln1130=)
c.3401A= (p.Gln1134=)
c.3374A= (p.Gln1125=)
c.3320A= (p.Gln1107=)
c.2720A= (p.Gln907=)
c.3668A= (p.Gln1223=)
c.3665A= (p.Gln1222=)
c.3584A= (p.Gln1195=)
c.3515A= (p.Gln1172=)
c.3383A= (p.Gln1128=)
c.3251A= (p.Gln1084=)
20g.32436116A>CCA408562991ASXL1c.3404A>C (p.Gln1135Pro)
c.3221A>C (p.Gln1074Pro)
n.5757A>C
c.1869+1535A>C (n.1869+1535A>C)
c.3389A>C (p.Gln1130Pro)
c.3401A>C (p.Gln1134Pro)
c.3374A>C (p.Gln1125Pro)
c.3320A>C (p.Gln1107Pro)
c.2720A>C (p.Gln907Pro)
c.3668A>C (p.Gln1223Pro)
c.3665A>C (p.Gln1222Pro)
c.3584A>C (p.Gln1195Pro)
c.3515A>C (p.Gln1172Pro)
c.3383A>C (p.Gln1128Pro)
c.3251A>C (p.Gln1084Pro)
20g.32436116A>GCA9808812ASXL1c.3404A>G (p.Gln1135Arg)
c.3221A>G (p.Gln1074Arg)
n.5757A>G
c.1869+1535A>G (n.1869+1535A>G)
c.3389A>G (p.Gln1130Arg)
c.3401A>G (p.Gln1134Arg)
c.3374A>G (p.Gln1125Arg)
c.3320A>G (p.Gln1107Arg)
c.2720A>G (p.Gln907Arg)
c.3668A>G (p.Gln1223Arg)
c.3665A>G (p.Gln1222Arg)
c.3584A>G (p.Gln1195Arg)
c.3515A>G (p.Gln1172Arg)
c.3383A>G (p.Gln1128Arg)
c.3251A>G (p.Gln1084Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436116A>TCA408562992ASXL1c.3404A>T (p.Gln1135Leu)
c.3221A>T (p.Gln1074Leu)
n.5757A>T
c.1869+1535A>T (n.1869+1535A>T)
c.3389A>T (p.Gln1130Leu)
c.3401A>T (p.Gln1134Leu)
c.3374A>T (p.Gln1125Leu)
c.3320A>T (p.Gln1107Leu)
c.2720A>T (p.Gln907Leu)
c.3668A>T (p.Gln1223Leu)
c.3665A>T (p.Gln1222Leu)
c.3584A>T (p.Gln1195Leu)
c.3515A>T (p.Gln1172Leu)
c.3383A>T (p.Gln1128Leu)
c.3251A>T (p.Gln1084Leu)
20g.32436117A=CA2360293541ASXL1c.3405A= (p.Gln1135=)
c.3222A= (p.Gln1074=)
n.5758A=
c.1869+1536A= (n.1869+1536A=)
c.3390A= (p.Gln1130=)
c.3402A= (p.Gln1134=)
c.3375A= (p.Gln1125=)
c.3321A= (p.Gln1107=)
c.2721A= (p.Gln907=)
c.3669A= (p.Gln1223=)
c.3666A= (p.Gln1222=)
c.3585A= (p.Gln1195=)
c.3516A= (p.Gln1172=)
c.3384A= (p.Gln1128=)
c.3252A= (p.Gln1084=)
20g.32436117A>CCA408562994ASXL1c.3405A>C (p.Gln1135His)
c.3222A>C (p.Gln1074His)
n.5758A>C
c.1869+1536A>C (n.1869+1536A>C)
c.3390A>C (p.Gln1130His)
c.3402A>C (p.Gln1134His)
c.3375A>C (p.Gln1125His)
c.3321A>C (p.Gln1107His)
c.2721A>C (p.Gln907His)
c.3669A>C (p.Gln1223His)
c.3666A>C (p.Gln1222His)
c.3585A>C (p.Gln1195His)
c.3516A>C (p.Gln1172His)
c.3384A>C (p.Gln1128His)
c.3252A>C (p.Gln1084His)
20g.32436117A>GCA9808813ASXL1c.3405A>G (p.Gln1135=)
c.3222A>G (p.Gln1074=)
n.5758A>G
c.1869+1536A>G (n.1869+1536A>G)
c.3390A>G (p.Gln1130=)
c.3402A>G (p.Gln1134=)
c.3375A>G (p.Gln1125=)
c.3321A>G (p.Gln1107=)
c.2721A>G (p.Gln907=)
c.3669A>G (p.Gln1223=)
c.3666A>G (p.Gln1222=)
c.3585A>G (p.Gln1195=)
c.3516A>G (p.Gln1172=)
c.3384A>G (p.Gln1128=)
c.3252A>G (p.Gln1084=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436117A>TCA408562993ASXL1c.3405A>T (p.Gln1135His)
c.3222A>T (p.Gln1074His)
n.5758A>T
c.1869+1536A>T (n.1869+1536A>T)
c.3390A>T (p.Gln1130His)
c.3402A>T (p.Gln1134His)
c.3375A>T (p.Gln1125His)
c.3321A>T (p.Gln1107His)
c.2721A>T (p.Gln907His)
c.3669A>T (p.Gln1223His)
c.3666A>T (p.Gln1222His)
c.3585A>T (p.Gln1195His)
c.3516A>T (p.Gln1172His)
c.3384A>T (p.Gln1128His)
c.3252A>T (p.Gln1084His)
20g.32436118G>ACA408562995ASXL1c.3406G>A (p.Val1136Ile)
c.3223G>A (p.Val1075Ile)
n.5759G>A
c.1869+1537G>A (n.1869+1537G>A)
c.3391G>A (p.Val1131Ile)
c.3403G>A (p.Val1135Ile)
c.3376G>A (p.Val1126Ile)
c.3322G>A (p.Val1108Ile)
c.2722G>A (p.Val908Ile)
c.3670G>A (p.Val1224Ile)
c.3667G>A (p.Val1223Ile)
c.3586G>A (p.Val1196Ile)
c.3517G>A (p.Val1173Ile)
c.3385G>A (p.Val1129Ile)
c.3253G>A (p.Val1085Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.32436118G>CCA9808814ASXL1c.3406G>C (p.Val1136Leu)
c.3223G>C (p.Val1075Leu)
n.5759G>C
c.1869+1537G>C (n.1869+1537G>C)
c.3391G>C (p.Val1131Leu)
c.3403G>C (p.Val1135Leu)
c.3376G>C (p.Val1126Leu)
c.3322G>C (p.Val1108Leu)
c.2722G>C (p.Val908Leu)
c.3670G>C (p.Val1224Leu)
c.3667G>C (p.Val1223Leu)
c.3586G>C (p.Val1196Leu)
c.3517G>C (p.Val1173Leu)
c.3385G>C (p.Val1129Leu)
c.3253G>C (p.Val1085Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436118G=CA2360293542ASXL1c.3406G= (p.Val1136=)
c.3223G= (p.Val1075=)
n.5759G=
c.1869+1537G= (n.1869+1537G=)
c.3391G= (p.Val1131=)
c.3403G= (p.Val1135=)
c.3376G= (p.Val1126=)
c.3322G= (p.Val1108=)
c.2722G= (p.Val908=)
c.3670G= (p.Val1224=)
c.3667G= (p.Val1223=)
c.3586G= (p.Val1196=)
c.3517G= (p.Val1173=)
c.3385G= (p.Val1129=)
c.3253G= (p.Val1085=)
20g.32436118G>TCA408562996ASXL1c.3406G>T (p.Val1136Leu)
c.3223G>T (p.Val1075Leu)
n.5759G>T
c.1869+1537G>T (n.1869+1537G>T)
c.3391G>T (p.Val1131Leu)
c.3403G>T (p.Val1135Leu)
c.3376G>T (p.Val1126Leu)
c.3322G>T (p.Val1108Leu)
c.2722G>T (p.Val908Leu)
c.3670G>T (p.Val1224Leu)
c.3667G>T (p.Val1223Leu)
c.3586G>T (p.Val1196Leu)
c.3517G>T (p.Val1173Leu)
c.3385G>T (p.Val1129Leu)
c.3253G>T (p.Val1085Leu)
20g.32436119T>ACA408562997ASXL1c.3407T>A (p.Val1136Glu)
c.3224T>A (p.Val1075Glu)
n.5760T>A
c.1869+1538T>A (n.1869+1538T>A)
c.3392T>A (p.Val1131Glu)
c.3404T>A (p.Val1135Glu)
c.3377T>A (p.Val1126Glu)
c.3323T>A (p.Val1108Glu)
c.2723T>A (p.Val908Glu)
c.3671T>A (p.Val1224Glu)
c.3668T>A (p.Val1223Glu)
c.3587T>A (p.Val1196Glu)
c.3518T>A (p.Val1173Glu)
c.3386T>A (p.Val1129Glu)
c.3254T>A (p.Val1085Glu)
 dbSNP
20g.32436119T>CCA408562998ASXL1c.3407T>C (p.Val1136Ala)
c.3224T>C (p.Val1075Ala)
n.5760T>C
c.1869+1538T>C (n.1869+1538T>C)
c.3392T>C (p.Val1131Ala)
c.3404T>C (p.Val1135Ala)
c.3377T>C (p.Val1126Ala)
c.3323T>C (p.Val1108Ala)
c.2723T>C (p.Val908Ala)
c.3671T>C (p.Val1224Ala)
c.3668T>C (p.Val1223Ala)
c.3587T>C (p.Val1196Ala)
c.3518T>C (p.Val1173Ala)
c.3386T>C (p.Val1129Ala)
c.3254T>C (p.Val1085Ala)
20g.32436119T>GCA408562999ASXL1c.3407T>G (p.Val1136Gly)
c.3224T>G (p.Val1075Gly)
n.5760T>G
c.1869+1538T>G (n.1869+1538T>G)
c.3392T>G (p.Val1131Gly)
c.3404T>G (p.Val1135Gly)
c.3377T>G (p.Val1126Gly)
c.3323T>G (p.Val1108Gly)
c.2723T>G (p.Val908Gly)
c.3671T>G (p.Val1224Gly)
c.3668T>G (p.Val1223Gly)
c.3587T>G (p.Val1196Gly)
c.3518T>G (p.Val1173Gly)
c.3386T>G (p.Val1129Gly)
c.3254T>G (p.Val1085Gly)
20g.32436120A>CCA510467228ASXL1c.3408A>C (p.Val1136=)
c.3225A>C (p.Val1075=)
n.5761A>C
c.1869+1539A>C (n.1869+1539A>C)
c.3393A>C (p.Val1131=)
c.3405A>C (p.Val1135=)
c.3378A>C (p.Val1126=)
c.3324A>C (p.Val1108=)
c.2724A>C (p.Val908=)
c.3672A>C (p.Val1224=)
c.3669A>C (p.Val1223=)
c.3588A>C (p.Val1196=)
c.3519A>C (p.Val1173=)
c.3387A>C (p.Val1129=)
c.3255A>C (p.Val1085=)
20g.32436120A>GCA510467229ASXL1c.3408A>G (p.Val1136=)
c.3225A>G (p.Val1075=)
n.5761A>G
c.1869+1539A>G (n.1869+1539A>G)
c.3393A>G (p.Val1131=)
c.3405A>G (p.Val1135=)
c.3378A>G (p.Val1126=)
c.3324A>G (p.Val1108=)
c.2724A>G (p.Val908=)
c.3672A>G (p.Val1224=)
c.3669A>G (p.Val1223=)
c.3588A>G (p.Val1196=)
c.3519A>G (p.Val1173=)
c.3387A>G (p.Val1129=)
c.3255A>G (p.Val1085=)
 gnomAD v4
20g.32436120A>TCA510467230ASXL1c.3408A>T (p.Val1136=)
c.3225A>T (p.Val1075=)
n.5761A>T
c.1869+1539A>T (n.1869+1539A>T)
c.3393A>T (p.Val1131=)
c.3405A>T (p.Val1135=)
c.3378A>T (p.Val1126=)
c.3324A>T (p.Val1108=)
c.2724A>T (p.Val908=)
c.3672A>T (p.Val1224=)
c.3669A>T (p.Val1223=)
c.3588A>T (p.Val1196=)
c.3519A>T (p.Val1173=)
c.3387A>T (p.Val1129=)
c.3255A>T (p.Val1085=)
20g.32436121C>ACA408563000ASXL1c.3409C>A (p.Pro1137Thr)
c.3226C>A (p.Pro1076Thr)
n.5762C>A
c.1869+1540C>A (n.1869+1540C>A)
c.3394C>A (p.Pro1132Thr)
c.3406C>A (p.Pro1136Thr)
c.3379C>A (p.Pro1127Thr)
c.3325C>A (p.Pro1109Thr)
c.2725C>A (p.Pro909Thr)
c.3673C>A (p.Pro1225Thr)
c.3670C>A (p.Pro1224Thr)
c.3589C>A (p.Pro1197Thr)
c.3520C>A (p.Pro1174Thr)
c.3388C>A (p.Pro1130Thr)
c.3256C>A (p.Pro1086Thr)
 dbSNP
20g.32436121C>GCA408563001ASXL1c.3409C>G (p.Pro1137Ala)
c.3226C>G (p.Pro1076Ala)
n.5762C>G
c.1869+1540C>G (n.1869+1540C>G)
c.3394C>G (p.Pro1132Ala)
c.3406C>G (p.Pro1136Ala)
c.3379C>G (p.Pro1127Ala)
c.3325C>G (p.Pro1109Ala)
c.2725C>G (p.Pro909Ala)
c.3673C>G (p.Pro1225Ala)
c.3670C>G (p.Pro1224Ala)
c.3589C>G (p.Pro1197Ala)
c.3520C>G (p.Pro1174Ala)
c.3388C>G (p.Pro1130Ala)
c.3256C>G (p.Pro1086Ala)
20g.32436121C>TCA408563002ASXL1c.3409C>T (p.Pro1137Ser)
c.3226C>T (p.Pro1076Ser)
n.5762C>T
c.1869+1540C>T (n.1869+1540C>T)
c.3394C>T (p.Pro1132Ser)
c.3406C>T (p.Pro1136Ser)
c.3379C>T (p.Pro1127Ser)
c.3325C>T (p.Pro1109Ser)
c.2725C>T (p.Pro909Ser)
c.3673C>T (p.Pro1225Ser)
c.3670C>T (p.Pro1224Ser)
c.3589C>T (p.Pro1197Ser)
c.3520C>T (p.Pro1174Ser)
c.3388C>T (p.Pro1130Ser)
c.3256C>T (p.Pro1086Ser)
20g.32436122C>ACA408563003ASXL1c.3410C>A (p.Pro1137Gln)
c.3227C>A (p.Pro1076Gln)
n.5763C>A
c.1869+1541C>A (n.1869+1541C>A)
c.3395C>A (p.Pro1132Gln)
c.3407C>A (p.Pro1136Gln)
c.3380C>A (p.Pro1127Gln)
c.3326C>A (p.Pro1109Gln)
c.2726C>A (p.Pro909Gln)
c.3674C>A (p.Pro1225Gln)
c.3671C>A (p.Pro1224Gln)
c.3590C>A (p.Pro1197Gln)
c.3521C>A (p.Pro1174Gln)
c.3389C>A (p.Pro1130Gln)
c.3257C>A (p.Pro1086Gln)
20g.32436122C=CA2360293543ASXL1c.3410C= (p.Pro1137=)
c.3227C= (p.Pro1076=)
n.5763C=
c.1869+1541C= (n.1869+1541C=)
c.3395C= (p.Pro1132=)
c.3407C= (p.Pro1136=)
c.3380C= (p.Pro1127=)
c.3326C= (p.Pro1109=)
c.2726C= (p.Pro909=)
c.3674C= (p.Pro1225=)
c.3671C= (p.Pro1224=)
c.3590C= (p.Pro1197=)
c.3521C= (p.Pro1174=)
c.3389C= (p.Pro1130=)
c.3257C= (p.Pro1086=)
20g.32436122C>GCA408563004ASXL1c.3410C>G (p.Pro1137Arg)
c.3227C>G (p.Pro1076Arg)
n.5763C>G
c.1869+1541C>G (n.1869+1541C>G)
c.3395C>G (p.Pro1132Arg)
c.3407C>G (p.Pro1136Arg)
c.3380C>G (p.Pro1127Arg)
c.3326C>G (p.Pro1109Arg)
c.2726C>G (p.Pro909Arg)
c.3674C>G (p.Pro1225Arg)
c.3671C>G (p.Pro1224Arg)
c.3590C>G (p.Pro1197Arg)
c.3521C>G (p.Pro1174Arg)
c.3389C>G (p.Pro1130Arg)
c.3257C>G (p.Pro1086Arg)
20g.32436122C>TCA408563005ASXL1c.3410C>T (p.Pro1137Leu)
c.3227C>T (p.Pro1076Leu)
n.5763C>T
c.1869+1541C>T (n.1869+1541C>T)
c.3395C>T (p.Pro1132Leu)
c.3407C>T (p.Pro1136Leu)
c.3380C>T (p.Pro1127Leu)
c.3326C>T (p.Pro1109Leu)
c.2726C>T (p.Pro909Leu)
c.3674C>T (p.Pro1225Leu)
c.3671C>T (p.Pro1224Leu)
c.3590C>T (p.Pro1197Leu)
c.3521C>T (p.Pro1174Leu)
c.3389C>T (p.Pro1130Leu)
c.3257C>T (p.Pro1086Leu)
 dbSNP gnomAD v4
20g.32436123A>CCA510467231ASXL1c.3411A>C (p.Pro1137=)
c.3228A>C (p.Pro1076=)
n.5764A>C
c.1869+1542A>C (n.1869+1542A>C)
c.3396A>C (p.Pro1132=)
c.3408A>C (p.Pro1136=)
c.3381A>C (p.Pro1127=)
c.3327A>C (p.Pro1109=)
c.2727A>C (p.Pro909=)
c.3675A>C (p.Pro1225=)
c.3672A>C (p.Pro1224=)
c.3591A>C (p.Pro1197=)
c.3522A>C (p.Pro1174=)
c.3390A>C (p.Pro1130=)
c.3258A>C (p.Pro1086=)
20g.32436123A>GCA510467232ASXL1c.3411A>G (p.Pro1137=)
c.3228A>G (p.Pro1076=)
n.5764A>G
c.1869+1542A>G (n.1869+1542A>G)
c.3396A>G (p.Pro1132=)
c.3408A>G (p.Pro1136=)
c.3381A>G (p.Pro1127=)
c.3327A>G (p.Pro1109=)
c.2727A>G (p.Pro909=)
c.3675A>G (p.Pro1225=)
c.3672A>G (p.Pro1224=)
c.3591A>G (p.Pro1197=)
c.3522A>G (p.Pro1174=)
c.3390A>G (p.Pro1130=)
c.3258A>G (p.Pro1086=)
20g.32436123A>TCA510467233ASXL1c.3411A>T (p.Pro1137=)
c.3228A>T (p.Pro1076=)
n.5764A>T
c.1869+1542A>T (n.1869+1542A>T)
c.3396A>T (p.Pro1132=)
c.3408A>T (p.Pro1136=)
c.3381A>T (p.Pro1127=)
c.3327A>T (p.Pro1109=)
c.2727A>T (p.Pro909=)
c.3675A>T (p.Pro1225=)
c.3672A>T (p.Pro1224=)
c.3591A>T (p.Pro1197=)
c.3522A>T (p.Pro1174=)
c.3390A>T (p.Pro1130=)
c.3258A>T (p.Pro1086=)
20g.32436124C>ACA408563006ASXL1c.3412C>A (p.Leu1138Ile)
c.3229C>A (p.Leu1077Ile)
n.5765C>A
c.1869+1543C>A (n.1869+1543C>A)
c.3397C>A (p.Leu1133Ile)
c.3409C>A (p.Leu1137Ile)
c.3382C>A (p.Leu1128Ile)
c.3328C>A (p.Leu1110Ile)
c.2728C>A (p.Leu910Ile)
c.3676C>A (p.Leu1226Ile)
c.3673C>A (p.Leu1225Ile)
c.3592C>A (p.Leu1198Ile)
c.3523C>A (p.Leu1175Ile)
c.3391C>A (p.Leu1131Ile)
c.3259C>A (p.Leu1087Ile)
20g.32436124C>GCA408563008ASXL1c.3412C>G (p.Leu1138Val)
c.3229C>G (p.Leu1077Val)
n.5765C>G
c.1869+1543C>G (n.1869+1543C>G)
c.3397C>G (p.Leu1133Val)
c.3409C>G (p.Leu1137Val)
c.3382C>G (p.Leu1128Val)
c.3328C>G (p.Leu1110Val)
c.2728C>G (p.Leu910Val)
c.3676C>G (p.Leu1226Val)
c.3673C>G (p.Leu1225Val)
c.3592C>G (p.Leu1198Val)
c.3523C>G (p.Leu1175Val)
c.3391C>G (p.Leu1131Val)
c.3259C>G (p.Leu1087Val)
20g.32436124C>TCA408563007ASXL1c.3412C>T (p.Leu1138Phe)
c.3229C>T (p.Leu1077Phe)
n.5765C>T
c.1869+1543C>T (n.1869+1543C>T)
c.3397C>T (p.Leu1133Phe)
c.3409C>T (p.Leu1137Phe)
c.3382C>T (p.Leu1128Phe)
c.3328C>T (p.Leu1110Phe)
c.2728C>T (p.Leu910Phe)
c.3676C>T (p.Leu1226Phe)
c.3673C>T (p.Leu1225Phe)
c.3592C>T (p.Leu1198Phe)
c.3523C>T (p.Leu1175Phe)
c.3391C>T (p.Leu1131Phe)
c.3259C>T (p.Leu1087Phe)
20g.32436125T>ACA408563009ASXL1c.3413T>A (p.Leu1138His)
c.3230T>A (p.Leu1077His)
n.5766T>A
c.1869+1544T>A (n.1869+1544T>A)
c.3398T>A (p.Leu1133His)
c.3410T>A (p.Leu1137His)
c.3383T>A (p.Leu1128His)
c.3329T>A (p.Leu1110His)
c.2729T>A (p.Leu910His)
c.3677T>A (p.Leu1226His)
c.3674T>A (p.Leu1225His)
c.3593T>A (p.Leu1198His)
c.3524T>A (p.Leu1175His)
c.3392T>A (p.Leu1131His)
c.3260T>A (p.Leu1087His)
20g.32436125T>CCA408563010ASXL1c.3413T>C (p.Leu1138Pro)
c.3230T>C (p.Leu1077Pro)
n.5766T>C
c.1869+1544T>C (n.1869+1544T>C)
c.3398T>C (p.Leu1133Pro)
c.3410T>C (p.Leu1137Pro)
c.3383T>C (p.Leu1128Pro)
c.3329T>C (p.Leu1110Pro)
c.2729T>C (p.Leu910Pro)
c.3677T>C (p.Leu1226Pro)
c.3674T>C (p.Leu1225Pro)
c.3593T>C (p.Leu1198Pro)
c.3524T>C (p.Leu1175Pro)
c.3392T>C (p.Leu1131Pro)
c.3260T>C (p.Leu1087Pro)
20g.32436125T>GCA408563011ASXL1c.3413T>G (p.Leu1138Arg)
c.3230T>G (p.Leu1077Arg)
n.5766T>G
c.1869+1544T>G (n.1869+1544T>G)
c.3398T>G (p.Leu1133Arg)
c.3410T>G (p.Leu1137Arg)
c.3383T>G (p.Leu1128Arg)
c.3329T>G (p.Leu1110Arg)
c.2729T>G (p.Leu910Arg)
c.3677T>G (p.Leu1226Arg)
c.3674T>G (p.Leu1225Arg)
c.3593T>G (p.Leu1198Arg)
c.3524T>G (p.Leu1175Arg)
c.3392T>G (p.Leu1131Arg)
c.3260T>G (p.Leu1087Arg)
20g.32436126T>ACA510467236ASXL1c.3414T>A (p.Leu1138=)
c.3231T>A (p.Leu1077=)
n.5767T>A
c.1869+1545T>A (n.1869+1545T>A)
c.3399T>A (p.Leu1133=)
c.3411T>A (p.Leu1137=)
c.3384T>A (p.Leu1128=)
c.3330T>A (p.Leu1110=)
c.2730T>A (p.Leu910=)
c.3678T>A (p.Leu1226=)
c.3675T>A (p.Leu1225=)
c.3594T>A (p.Leu1198=)
c.3525T>A (p.Leu1175=)
c.3393T>A (p.Leu1131=)
c.3261T>A (p.Leu1087=)
 dbSNP gnomAD v4
20g.32436126T>CCA510467234ASXL1c.3414T>C (p.Leu1138=)
c.3231T>C (p.Leu1077=)
n.5767T>C
c.1869+1545T>C (n.1869+1545T>C)
c.3399T>C (p.Leu1133=)
c.3411T>C (p.Leu1137=)
c.3384T>C (p.Leu1128=)
c.3330T>C (p.Leu1110=)
c.2730T>C (p.Leu910=)
c.3678T>C (p.Leu1226=)
c.3675T>C (p.Leu1225=)
c.3594T>C (p.Leu1198=)
c.3525T>C (p.Leu1175=)
c.3393T>C (p.Leu1131=)
c.3261T>C (p.Leu1087=)
 gnomAD v4
20g.32436126T>GCA510467235ASXL1c.3414T>G (p.Leu1138=)
c.3231T>G (p.Leu1077=)
n.5767T>G
c.1869+1545T>G (n.1869+1545T>G)
c.3399T>G (p.Leu1133=)
c.3411T>G (p.Leu1137=)
c.3384T>G (p.Leu1128=)
c.3330T>G (p.Leu1110=)
c.2730T>G (p.Leu910=)
c.3678T>G (p.Leu1226=)
c.3675T>G (p.Leu1225=)
c.3594T>G (p.Leu1198=)
c.3525T>G (p.Leu1175=)
c.3393T>G (p.Leu1131=)
c.3261T>G (p.Leu1087=)
20g.32436126T=CA2360293544ASXL1c.3414T= (p.Leu1138=)
c.3231T= (p.Leu1077=)
n.5767T=
c.1869+1545T= (n.1869+1545T=)
c.3399T= (p.Leu1133=)
c.3411T= (p.Leu1137=)
c.3384T= (p.Leu1128=)
c.3330T= (p.Leu1110=)
c.2730T= (p.Leu910=)
c.3678T= (p.Leu1226=)
c.3675T= (p.Leu1225=)
c.3594T= (p.Leu1198=)
c.3525T= (p.Leu1175=)
c.3393T= (p.Leu1131=)
c.3261T= (p.Leu1087=)
20g.32436127A=CA2360293545ASXL1c.3415A= (p.Thr1139=)
c.3232A= (p.Thr1078=)
n.5768A=
c.1869+1546A= (n.1869+1546A=)
c.3400A= (p.Thr1134=)
c.3412A= (p.Thr1138=)
c.3385A= (p.Thr1129=)
c.3331A= (p.Thr1111=)
c.2731A= (p.Thr911=)
c.3679A= (p.Thr1227=)
c.3676A= (p.Thr1226=)
c.3595A= (p.Thr1199=)
c.3526A= (p.Thr1176=)
c.3394A= (p.Thr1132=)
c.3262A= (p.Thr1088=)
20g.32436127A>CCA408563012ASXL1c.3415A>C (p.Thr1139Pro)
c.3232A>C (p.Thr1078Pro)
n.5768A>C
c.1869+1546A>C (n.1869+1546A>C)
c.3400A>C (p.Thr1134Pro)
c.3412A>C (p.Thr1138Pro)
c.3385A>C (p.Thr1129Pro)
c.3331A>C (p.Thr1111Pro)
c.2731A>C (p.Thr911Pro)
c.3679A>C (p.Thr1227Pro)
c.3676A>C (p.Thr1226Pro)
c.3595A>C (p.Thr1199Pro)
c.3526A>C (p.Thr1176Pro)
c.3394A>C (p.Thr1132Pro)
c.3262A>C (p.Thr1088Pro)
20g.32436127A>GCA408563013ASXL1c.3415A>G (p.Thr1139Ala)
c.3232A>G (p.Thr1078Ala)
n.5768A>G
c.1869+1546A>G (n.1869+1546A>G)
c.3400A>G (p.Thr1134Ala)
c.3412A>G (p.Thr1138Ala)
c.3385A>G (p.Thr1129Ala)
c.3331A>G (p.Thr1111Ala)
c.2731A>G (p.Thr911Ala)
c.3679A>G (p.Thr1227Ala)
c.3676A>G (p.Thr1226Ala)
c.3595A>G (p.Thr1199Ala)
c.3526A>G (p.Thr1176Ala)
c.3394A>G (p.Thr1132Ala)
c.3262A>G (p.Thr1088Ala)
 dbSNP gnomAD v2 gnomAD v4
20g.32436127A>TCA408563014ASXL1c.3415A>T (p.Thr1139Ser)
c.3232A>T (p.Thr1078Ser)
n.5768A>T
c.1869+1546A>T (n.1869+1546A>T)
c.3400A>T (p.Thr1134Ser)
c.3412A>T (p.Thr1138Ser)
c.3385A>T (p.Thr1129Ser)
c.3331A>T (p.Thr1111Ser)
c.2731A>T (p.Thr911Ser)
c.3679A>T (p.Thr1227Ser)
c.3676A>T (p.Thr1226Ser)
c.3595A>T (p.Thr1199Ser)
c.3526A>T (p.Thr1176Ser)
c.3394A>T (p.Thr1132Ser)
c.3262A>T (p.Thr1088Ser)
 dbSNP
20g.32436128C>ACA9808815ASXL1c.3416C>A (p.Thr1139Lys)
c.3233C>A (p.Thr1078Lys)
n.5769C>A
c.1869+1547C>A (n.1869+1547C>A)
c.3401C>A (p.Thr1134Lys)
c.3413C>A (p.Thr1138Lys)
c.3386C>A (p.Thr1129Lys)
c.3332C>A (p.Thr1111Lys)
c.2732C>A (p.Thr911Lys)
c.3680C>A (p.Thr1227Lys)
c.3677C>A (p.Thr1226Lys)
c.3596C>A (p.Thr1199Lys)
c.3527C>A (p.Thr1176Lys)
c.3395C>A (p.Thr1132Lys)
c.3263C>A (p.Thr1088Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436128C=CA2360293546ASXL1c.3416C= (p.Thr1139=)
c.3233C= (p.Thr1078=)
n.5769C=
c.1869+1547C= (n.1869+1547C=)
c.3401C= (p.Thr1134=)
c.3413C= (p.Thr1138=)
c.3386C= (p.Thr1129=)
c.3332C= (p.Thr1111=)
c.2732C= (p.Thr911=)
c.3680C= (p.Thr1227=)
c.3677C= (p.Thr1226=)
c.3596C= (p.Thr1199=)
c.3527C= (p.Thr1176=)
c.3395C= (p.Thr1132=)
c.3263C= (p.Thr1088=)
20g.32436128C>GCA408563015ASXL1c.3416C>G (p.Thr1139Arg)
c.3233C>G (p.Thr1078Arg)
n.5769C>G
c.1869+1547C>G (n.1869+1547C>G)
c.3401C>G (p.Thr1134Arg)
c.3413C>G (p.Thr1138Arg)
c.3386C>G (p.Thr1129Arg)
c.3332C>G (p.Thr1111Arg)
c.2732C>G (p.Thr911Arg)
c.3680C>G (p.Thr1227Arg)
c.3677C>G (p.Thr1226Arg)
c.3596C>G (p.Thr1199Arg)
c.3527C>G (p.Thr1176Arg)
c.3395C>G (p.Thr1132Arg)
c.3263C>G (p.Thr1088Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32436128C>TCA408563016ASXL1c.3416C>T (p.Thr1139Ile)
c.3233C>T (p.Thr1078Ile)
n.5769C>T
c.1869+1547C>T (n.1869+1547C>T)
c.3401C>T (p.Thr1134Ile)
c.3413C>T (p.Thr1138Ile)
c.3386C>T (p.Thr1129Ile)
c.3332C>T (p.Thr1111Ile)
c.2732C>T (p.Thr911Ile)
c.3680C>T (p.Thr1227Ile)
c.3677C>T (p.Thr1226Ile)
c.3596C>T (p.Thr1199Ile)
c.3527C>T (p.Thr1176Ile)
c.3395C>T (p.Thr1132Ile)
c.3263C>T (p.Thr1088Ile)
 dbSNP gnomAD v4
20g.32436129A=CA2360293547ASXL1c.3417A= (p.Thr1139=)
c.3234A= (p.Thr1078=)
n.5770A=
c.1869+1548A= (n.1869+1548A=)
c.3402A= (p.Thr1134=)
c.3414A= (p.Thr1138=)
c.3387A= (p.Thr1129=)
c.3333A= (p.Thr1111=)
c.2733A= (p.Thr911=)
c.3681A= (p.Thr1227=)
c.3678A= (p.Thr1226=)
c.3597A= (p.Thr1199=)
c.3528A= (p.Thr1176=)
c.3396A= (p.Thr1132=)
c.3264A= (p.Thr1088=)
20g.32436129A>CCA510467237ASXL1c.3417A>C (p.Thr1139=)
c.3234A>C (p.Thr1078=)
n.5770A>C
c.1869+1548A>C (n.1869+1548A>C)
c.3402A>C (p.Thr1134=)
c.3414A>C (p.Thr1138=)
c.3387A>C (p.Thr1129=)
c.3333A>C (p.Thr1111=)
c.2733A>C (p.Thr911=)
c.3681A>C (p.Thr1227=)
c.3678A>C (p.Thr1226=)
c.3597A>C (p.Thr1199=)
c.3528A>C (p.Thr1176=)
c.3396A>C (p.Thr1132=)
c.3264A>C (p.Thr1088=)
20g.32436129A>GCA9808816ASXL1c.3417A>G (p.Thr1139=)
c.3234A>G (p.Thr1078=)
n.5770A>G
c.1869+1548A>G (n.1869+1548A>G)
c.3402A>G (p.Thr1134=)
c.3414A>G (p.Thr1138=)
c.3387A>G (p.Thr1129=)
c.3333A>G (p.Thr1111=)
c.2733A>G (p.Thr911=)
c.3681A>G (p.Thr1227=)
c.3678A>G (p.Thr1226=)
c.3597A>G (p.Thr1199=)
c.3528A>G (p.Thr1176=)
c.3396A>G (p.Thr1132=)
c.3264A>G (p.Thr1088=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436129A>TCA510467238ASXL1c.3417A>T (p.Thr1139=)
c.3234A>T (p.Thr1078=)
n.5770A>T
c.1869+1548A>T (n.1869+1548A>T)
c.3402A>T (p.Thr1134=)
c.3414A>T (p.Thr1138=)
c.3387A>T (p.Thr1129=)
c.3333A>T (p.Thr1111=)
c.2733A>T (p.Thr911=)
c.3681A>T (p.Thr1227=)
c.3678A>T (p.Thr1226=)
c.3597A>T (p.Thr1199=)
c.3528A>T (p.Thr1176=)
c.3396A>T (p.Thr1132=)
c.3264A>T (p.Thr1088=)
20g.32436132dupCA313926345ASXL1c.3420dup (p.Asp1141ArgfsTer23)
c.3237dup (p.Asp1080ArgfsTer23)
n.5773dup
c.1869+1551dup (n.1869+1551dup)
c.3405dup (p.Asp1136ArgfsTer23)
c.3417dup (p.Asp1140ArgfsTer23)
c.3390dup (p.Asp1131ArgfsTer23)
c.3336dup (p.Asp1113ArgfsTer23)
c.2736dup (p.Asp913ArgfsTer23)
c.3684dup (p.Asp1229ArgfsTer23)
c.3681dup (p.Asp1228ArgfsTer23)
c.3600dup (p.Asp1201ArgfsTer23)
c.3531dup (p.Asp1178ArgfsTer23)
c.3399dup (p.Asp1134ArgfsTer23)
c.3267dup (p.Asp1090ArgfsTer23)
 dbSNP
20g.32436130A>CCA408563017ASXL1c.3418A>C (p.Lys1140Gln)
c.3235A>C (p.Lys1079Gln)
n.5771A>C
c.1869+1549A>C (n.1869+1549A>C)
c.3403A>C (p.Lys1135Gln)
c.3415A>C (p.Lys1139Gln)
c.3388A>C (p.Lys1130Gln)
c.3334A>C (p.Lys1112Gln)
c.2734A>C (p.Lys912Gln)
c.3682A>C (p.Lys1228Gln)
c.3679A>C (p.Lys1227Gln)
c.3598A>C (p.Lys1200Gln)
c.3529A>C (p.Lys1177Gln)
c.3397A>C (p.Lys1133Gln)
c.3265A>C (p.Lys1089Gln)
20g.32436130A>GCA408563018ASXL1c.3418A>G (p.Lys1140Glu)
c.3235A>G (p.Lys1079Glu)
n.5771A>G
c.1869+1549A>G (n.1869+1549A>G)
c.3403A>G (p.Lys1135Glu)
c.3415A>G (p.Lys1139Glu)
c.3388A>G (p.Lys1130Glu)
c.3334A>G (p.Lys1112Glu)
c.2734A>G (p.Lys912Glu)
c.3682A>G (p.Lys1228Glu)
c.3679A>G (p.Lys1227Glu)
c.3598A>G (p.Lys1200Glu)
c.3529A>G (p.Lys1177Glu)
c.3397A>G (p.Lys1133Glu)
c.3265A>G (p.Lys1089Glu)
20g.32436130A>TCA408563019ASXL1c.3418A>T (p.Lys1140Ter)
c.3235A>T (p.Lys1079Ter)
n.5771A>T
c.1869+1549A>T (n.1869+1549A>T)
c.3403A>T (p.Lys1135Ter)
c.3415A>T (p.Lys1139Ter)
c.3388A>T (p.Lys1130Ter)
c.3334A>T (p.Lys1112Ter)
c.2734A>T (p.Lys912Ter)
c.3682A>T (p.Lys1228Ter)
c.3679A>T (p.Lys1227Ter)
c.3598A>T (p.Lys1200Ter)
c.3529A>T (p.Lys1177Ter)
c.3397A>T (p.Lys1133Ter)
c.3265A>T (p.Lys1089Ter)
20g.32436131A>CCA408563022ASXL1c.3419A>C (p.Lys1140Thr)
c.3236A>C (p.Lys1079Thr)
n.5772A>C
c.1869+1550A>C (n.1869+1550A>C)
c.3404A>C (p.Lys1135Thr)
c.3416A>C (p.Lys1139Thr)
c.3389A>C (p.Lys1130Thr)
c.3335A>C (p.Lys1112Thr)
c.2735A>C (p.Lys912Thr)
c.3683A>C (p.Lys1228Thr)
c.3680A>C (p.Lys1227Thr)
c.3599A>C (p.Lys1200Thr)
c.3530A>C (p.Lys1177Thr)
c.3398A>C (p.Lys1133Thr)
c.3266A>C (p.Lys1089Thr)
20g.32436131A>GCA408563021ASXL1c.3419A>G (p.Lys1140Arg)
c.3236A>G (p.Lys1079Arg)
n.5772A>G
c.1869+1550A>G (n.1869+1550A>G)
c.3404A>G (p.Lys1135Arg)
c.3416A>G (p.Lys1139Arg)
c.3389A>G (p.Lys1130Arg)
c.3335A>G (p.Lys1112Arg)
c.2735A>G (p.Lys912Arg)
c.3683A>G (p.Lys1228Arg)
c.3680A>G (p.Lys1227Arg)
c.3599A>G (p.Lys1200Arg)
c.3530A>G (p.Lys1177Arg)
c.3398A>G (p.Lys1133Arg)
c.3266A>G (p.Lys1089Arg)
20g.32436131A>TCA408563020ASXL1c.3419A>T (p.Lys1140Ile)
c.3236A>T (p.Lys1079Ile)
n.5772A>T
c.1869+1550A>T (n.1869+1550A>T)
c.3404A>T (p.Lys1135Ile)
c.3416A>T (p.Lys1139Ile)
c.3389A>T (p.Lys1130Ile)
c.3335A>T (p.Lys1112Ile)
c.2735A>T (p.Lys912Ile)
c.3683A>T (p.Lys1228Ile)
c.3680A>T (p.Lys1227Ile)
c.3599A>T (p.Lys1200Ile)
c.3530A>T (p.Lys1177Ile)
c.3398A>T (p.Lys1133Ile)
c.3266A>T (p.Lys1089Ile)
20g.32436132A>CCA408563023ASXL1c.3420A>C (p.Lys1140Asn)
c.3237A>C (p.Lys1079Asn)
n.5773A>C
c.1869+1551A>C (n.1869+1551A>C)
c.3405A>C (p.Lys1135Asn)
c.3417A>C (p.Lys1139Asn)
c.3390A>C (p.Lys1130Asn)
c.3336A>C (p.Lys1112Asn)
c.2736A>C (p.Lys912Asn)
c.3684A>C (p.Lys1228Asn)
c.3681A>C (p.Lys1227Asn)
c.3600A>C (p.Lys1200Asn)
c.3531A>C (p.Lys1177Asn)
c.3399A>C (p.Lys1133Asn)
c.3267A>C (p.Lys1089Asn)
20g.32436132A>GCA510467239ASXL1c.3420A>G (p.Lys1140=)
c.3237A>G (p.Lys1079=)
n.5773A>G
c.1869+1551A>G (n.1869+1551A>G)
c.3405A>G (p.Lys1135=)
c.3417A>G (p.Lys1139=)
c.3390A>G (p.Lys1130=)
c.3336A>G (p.Lys1112=)
c.2736A>G (p.Lys912=)
c.3684A>G (p.Lys1228=)
c.3681A>G (p.Lys1227=)
c.3600A>G (p.Lys1200=)
c.3531A>G (p.Lys1177=)
c.3399A>G (p.Lys1133=)
c.3267A>G (p.Lys1089=)
20g.32436132A>TCA408563024ASXL1c.3420A>T (p.Lys1140Asn)
c.3237A>T (p.Lys1079Asn)
n.5773A>T
c.1869+1551A>T (n.1869+1551A>T)
c.3405A>T (p.Lys1135Asn)
c.3417A>T (p.Lys1139Asn)
c.3390A>T (p.Lys1130Asn)
c.3336A>T (p.Lys1112Asn)
c.2736A>T (p.Lys912Asn)
c.3684A>T (p.Lys1228Asn)
c.3681A>T (p.Lys1227Asn)
c.3600A>T (p.Lys1200Asn)
c.3531A>T (p.Lys1177Asn)
c.3399A>T (p.Lys1133Asn)
c.3267A>T (p.Lys1089Asn)
20g.32436133G>ACA408563025ASXL1c.3421G>A (p.Asp1141Asn)
c.3238G>A (p.Asp1080Asn)
n.5774G>A
c.1869+1552G>A (n.1869+1552G>A)
c.3406G>A (p.Asp1136Asn)
c.3418G>A (p.Asp1140Asn)
c.3391G>A (p.Asp1131Asn)
c.3337G>A (p.Asp1113Asn)
c.2737G>A (p.Asp913Asn)
c.3685G>A (p.Asp1229Asn)
c.3682G>A (p.Asp1228Asn)
c.3601G>A (p.Asp1201Asn)
c.3532G>A (p.Asp1178Asn)
c.3400G>A (p.Asp1134Asn)
c.3268G>A (p.Asp1090Asn)
20g.32436133G>CCA408563026ASXL1c.3421G>C (p.Asp1141His)
c.3238G>C (p.Asp1080His)
n.5774G>C
c.1869+1552G>C (n.1869+1552G>C)
c.3406G>C (p.Asp1136His)
c.3418G>C (p.Asp1140His)
c.3391G>C (p.Asp1131His)
c.3337G>C (p.Asp1113His)
c.2737G>C (p.Asp913His)
c.3685G>C (p.Asp1229His)
c.3682G>C (p.Asp1228His)
c.3601G>C (p.Asp1201His)
c.3532G>C (p.Asp1178His)
c.3400G>C (p.Asp1134His)
c.3268G>C (p.Asp1090His)
 dbSNP
20g.32436133G>TCA408563027ASXL1c.3421G>T (p.Asp1141Tyr)
c.3238G>T (p.Asp1080Tyr)
n.5774G>T
c.1869+1552G>T (n.1869+1552G>T)
c.3406G>T (p.Asp1136Tyr)
c.3418G>T (p.Asp1140Tyr)
c.3391G>T (p.Asp1131Tyr)
c.3337G>T (p.Asp1113Tyr)
c.2737G>T (p.Asp913Tyr)
c.3685G>T (p.Asp1229Tyr)
c.3682G>T (p.Asp1228Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3532G>T (p.Asp1178Tyr)
c.3400G>T (p.Asp1134Tyr)
c.3268G>T (p.Asp1090Tyr)
 gnomAD v4
20g.32436134A=CA2360293548ASXL1c.3422A= (p.Asp1141=)
c.3239A= (p.Asp1080=)
n.5775A=
c.1869+1553A= (n.1869+1553A=)
c.3407A= (p.Asp1136=)
c.3419A= (p.Asp1140=)
c.3392A= (p.Asp1131=)
c.3338A= (p.Asp1113=)
c.2738A= (p.Asp913=)
c.3686A= (p.Asp1229=)
c.3683A= (p.Asp1228=)
c.3602A= (p.Asp1201=)
c.3533A= (p.Asp1178=)
c.3401A= (p.Asp1134=)
c.3269A= (p.Asp1090=)
20g.32436134A>CCA9808817ASXL1c.3422A>C (p.Asp1141Ala)
c.3239A>C (p.Asp1080Ala)
n.5775A>C
c.1869+1553A>C (n.1869+1553A>C)
c.3407A>C (p.Asp1136Ala)
c.3419A>C (p.Asp1140Ala)
c.3392A>C (p.Asp1131Ala)
c.3338A>C (p.Asp1113Ala)
c.2738A>C (p.Asp913Ala)
c.3686A>C (p.Asp1229Ala)
c.3683A>C (p.Asp1228Ala)
c.3602A>C (p.Asp1201Ala)
c.3533A>C (p.Asp1178Ala)
c.3401A>C (p.Asp1134Ala)
c.3269A>C (p.Asp1090Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436134A>GCA408563028ASXL1c.3422A>G (p.Asp1141Gly)
c.3239A>G (p.Asp1080Gly)
n.5775A>G
c.1869+1553A>G (n.1869+1553A>G)
c.3407A>G (p.Asp1136Gly)
c.3419A>G (p.Asp1140Gly)
c.3392A>G (p.Asp1131Gly)
c.3338A>G (p.Asp1113Gly)
c.2738A>G (p.Asp913Gly)
c.3686A>G (p.Asp1229Gly)
c.3683A>G (p.Asp1228Gly)
c.3602A>G (p.Asp1201Gly)
c.3533A>G (p.Asp1178Gly)
c.3401A>G (p.Asp1134Gly)
c.3269A>G (p.Asp1090Gly)
20g.32436134A>TCA408563029ASXL1c.3422A>T (p.Asp1141Val)
c.3239A>T (p.Asp1080Val)
n.5775A>T
c.1869+1553A>T (n.1869+1553A>T)
c.3407A>T (p.Asp1136Val)
c.3419A>T (p.Asp1140Val)
c.3392A>T (p.Asp1131Val)
c.3338A>T (p.Asp1113Val)
c.2738A>T (p.Asp913Val)
c.3686A>T (p.Asp1229Val)
c.3683A>T (p.Asp1228Val)
c.3602A>T (p.Asp1201Val)
c.3533A>T (p.Asp1178Val)
c.3401A>T (p.Asp1134Val)
c.3269A>T (p.Asp1090Val)
20g.32436135C>ACA408563030ASXL1c.3423C>A (p.Asp1141Glu)
c.3240C>A (p.Asp1080Glu)
n.5776C>A
c.1869+1554C>A (n.1869+1554C>A)
c.3408C>A (p.Asp1136Glu)
c.3420C>A (p.Asp1140Glu)
c.3393C>A (p.Asp1131Glu)
c.3339C>A (p.Asp1113Glu)
c.2739C>A (p.Asp913Glu)
c.3687C>A (p.Asp1229Glu)
c.3684C>A (p.Asp1228Glu)
c.3603C>A (p.Asp1201Glu)
c.3534C>A (p.Asp1178Glu)
c.3402C>A (p.Asp1134Glu)
c.3270C>A (p.Asp1090Glu)
 dbSNP
20g.32436135C>GCA408563031ASXL1c.3423C>G (p.Asp1141Glu)
c.3240C>G (p.Asp1080Glu)
n.5776C>G
c.1869+1554C>G (n.1869+1554C>G)
c.3408C>G (p.Asp1136Glu)
c.3420C>G (p.Asp1140Glu)
c.3393C>G (p.Asp1131Glu)
c.3339C>G (p.Asp1113Glu)
c.2739C>G (p.Asp913Glu)
c.3687C>G (p.Asp1229Glu)
c.3684C>G (p.Asp1228Glu)
c.3603C>G (p.Asp1201Glu)
c.3534C>G (p.Asp1178Glu)
c.3402C>G (p.Asp1134Glu)
c.3270C>G (p.Asp1090Glu)
 dbSNP
20g.32436135C>TCA510467240ASXL1c.3423C>T (p.Asp1141=)
c.3240C>T (p.Asp1080=)
n.5776C>T
c.1869+1554C>T (n.1869+1554C>T)
c.3408C>T (p.Asp1136=)
c.3420C>T (p.Asp1140=)
c.3393C>T (p.Asp1131=)
c.3339C>T (p.Asp1113=)
c.2739C>T (p.Asp913=)
c.3687C>T (p.Asp1229=)
c.3684C>T (p.Asp1228=)
c.3603C>T (p.Asp1201=)
c.3534C>T (p.Asp1178=)
c.3402C>T (p.Asp1134=)
c.3270C>T (p.Asp1090=)
 gnomAD v3 gnomAD v4
20g.32436136delCA2736732344ASXL1c.3424del (p.Gln1142ArgfsTer29)
c.3241del (p.Gln1081ArgfsTer29)
n.5777del
c.1869+1555del (n.1869+1555del)
c.3409del (p.Gln1137ArgfsTer29)
c.3421del (p.Gln1141ArgfsTer29)
c.3394del (p.Gln1132ArgfsTer29)
c.3340del (p.Gln1114ArgfsTer29)
c.2740del (p.Gln914ArgfsTer29)
c.3688del (p.Gln1230ArgfsTer29)
c.3685del (p.Gln1229ArgfsTer29)
c.3604del (p.Gln1202ArgfsTer29)
c.3535del (p.Gln1179ArgfsTer29)
c.3403del (p.Gln1135ArgfsTer29)
c.3271del (p.Gln1091ArgfsTer29)
 dbSNP
20g.32436136C>ACA408563032ASXL1c.3424C>A (p.Gln1142Lys)
c.3241C>A (p.Gln1081Lys)
n.5777C>A
c.1869+1555C>A (n.1869+1555C>A)
c.3409C>A (p.Gln1137Lys)
c.3421C>A (p.Gln1141Lys)
c.3394C>A (p.Gln1132Lys)
c.3340C>A (p.Gln1114Lys)
c.2740C>A (p.Gln914Lys)
c.3688C>A (p.Gln1230Lys)
c.3685C>A (p.Gln1229Lys)
c.3604C>A (p.Gln1202Lys)
c.3535C>A (p.Gln1179Lys)
c.3403C>A (p.Gln1135Lys)
c.3271C>A (p.Gln1091Lys)
 dbSNP
20g.32436136C=CA2360293549ASXL1c.3424C= (p.Gln1142=)
c.3241C= (p.Gln1081=)
n.5777C=
c.1869+1555C= (n.1869+1555C=)
c.3409C= (p.Gln1137=)
c.3421C= (p.Gln1141=)
c.3394C= (p.Gln1132=)
c.3340C= (p.Gln1114=)
c.2740C= (p.Gln914=)
c.3688C= (p.Gln1230=)
c.3685C= (p.Gln1229=)
c.3604C= (p.Gln1202=)
c.3535C= (p.Gln1179=)
c.3403C= (p.Gln1135=)
c.3271C= (p.Gln1091=)
20g.32436136C>GCA408563033ASXL1c.3424C>G (p.Gln1142Glu)
c.3241C>G (p.Gln1081Glu)
n.5777C>G
c.1869+1555C>G (n.1869+1555C>G)
c.3409C>G (p.Gln1137Glu)
c.3421C>G (p.Gln1141Glu)
c.3394C>G (p.Gln1132Glu)
c.3340C>G (p.Gln1114Glu)
c.2740C>G (p.Gln914Glu)
c.3688C>G (p.Gln1230Glu)
c.3685C>G (p.Gln1229Glu)
c.3604C>G (p.Gln1202Glu)
c.3535C>G (p.Gln1179Glu)
c.3403C>G (p.Gln1135Glu)
c.3271C>G (p.Gln1091Glu)
20g.32436136C>TCA408563034ASXL1c.3424C>T (p.Gln1142Ter)
c.3241C>T (p.Gln1081Ter)
n.5777C>T
c.1869+1555C>T (n.1869+1555C>T)
c.3409C>T (p.Gln1137Ter)
c.3421C>T (p.Gln1141Ter)
c.3394C>T (p.Gln1132Ter)
c.3340C>T (p.Gln1114Ter)
c.2740C>T (p.Gln914Ter)
c.3688C>T (p.Gln1230Ter)
c.3685C>T (p.Gln1229Ter)
c.3604C>T (p.Gln1202Ter)
c.3535C>T (p.Gln1179Ter)
c.3403C>T (p.Gln1135Ter)
c.3271C>T (p.Gln1091Ter)
 dbSNP gnomAD v4
20g.32436137A=CA2360293550ASXL1c.3425A= (p.Gln1142=)
c.3242A= (p.Gln1081=)
n.5778A=
c.1869+1556A= (n.1869+1556A=)
c.3410A= (p.Gln1137=)
c.3422A= (p.Gln1141=)
c.3395A= (p.Gln1132=)
c.3341A= (p.Gln1114=)
c.2741A= (p.Gln914=)
c.3689A= (p.Gln1230=)
c.3686A= (p.Gln1229=)
c.3605A= (p.Gln1202=)
c.3536A= (p.Gln1179=)
c.3404A= (p.Gln1135=)
c.3272A= (p.Gln1091=)
20g.32436137A>CCA408563036ASXL1c.3425A>C (p.Gln1142Pro)
c.3242A>C (p.Gln1081Pro)
n.5778A>C
c.1869+1556A>C (n.1869+1556A>C)
c.3410A>C (p.Gln1137Pro)
c.3422A>C (p.Gln1141Pro)
c.3395A>C (p.Gln1132Pro)
c.3341A>C (p.Gln1114Pro)
c.2741A>C (p.Gln914Pro)
c.3689A>C (p.Gln1230Pro)
c.3686A>C (p.Gln1229Pro)
c.3605A>C (p.Gln1202Pro)
c.3536A>C (p.Gln1179Pro)
c.3404A>C (p.Gln1135Pro)
c.3272A>C (p.Gln1091Pro)
20g.32436137A>GCA408563037ASXL1c.3425A>G (p.Gln1142Arg)
c.3242A>G (p.Gln1081Arg)
n.5778A>G
c.1869+1556A>G (n.1869+1556A>G)
c.3410A>G (p.Gln1137Arg)
c.3422A>G (p.Gln1141Arg)
c.3395A>G (p.Gln1132Arg)
c.3341A>G (p.Gln1114Arg)
c.2741A>G (p.Gln914Arg)
c.3689A>G (p.Gln1230Arg)
c.3686A>G (p.Gln1229Arg)
c.3605A>G (p.Gln1202Arg)
c.3536A>G (p.Gln1179Arg)
c.3404A>G (p.Gln1135Arg)
c.3272A>G (p.Gln1091Arg)
 ClinVar dbSNP
20g.32436137A>TCA408563035ASXL1c.3425A>T (p.Gln1142Leu)
c.3242A>T (p.Gln1081Leu)
n.5778A>T
c.1869+1556A>T (n.1869+1556A>T)
c.3410A>T (p.Gln1137Leu)
c.3422A>T (p.Gln1141Leu)
c.3395A>T (p.Gln1132Leu)
c.3341A>T (p.Gln1114Leu)
c.2741A>T (p.Gln914Leu)
c.3689A>T (p.Gln1230Leu)
c.3686A>T (p.Gln1229Leu)
c.3605A>T (p.Gln1202Leu)
c.3536A>T (p.Gln1179Leu)
c.3404A>T (p.Gln1135Leu)
c.3272A>T (p.Gln1091Leu)
20g.32436138G>ACA510467241ASXL1c.3426G>A (p.Gln1142=)
c.3243G>A (p.Gln1081=)
n.5779G>A
c.1869+1557G>A (n.1869+1557G>A)
c.3411G>A (p.Gln1137=)
c.3423G>A (p.Gln1141=)
c.3396G>A (p.Gln1132=)
c.3342G>A (p.Gln1114=)
c.2742G>A (p.Gln914=)
c.3690G>A (p.Gln1230=)
c.3687G>A (p.Gln1229=)
c.3606G>A (p.Gln1202=)
c.3537G>A (p.Gln1179=)
c.3405G>A (p.Gln1135=)
c.3273G>A (p.Gln1091=)
20g.32436138G>CCA408563038ASXL1c.3426G>C (p.Gln1142His)
c.3243G>C (p.Gln1081His)
n.5779G>C
c.1869+1557G>C (n.1869+1557G>C)
c.3411G>C (p.Gln1137His)
c.3423G>C (p.Gln1141His)
c.3396G>C (p.Gln1132His)
c.3342G>C (p.Gln1114His)
c.2742G>C (p.Gln914His)
c.3690G>C (p.Gln1230His)
c.3687G>C (p.Gln1229His)
c.3606G>C (p.Gln1202His)
c.3537G>C (p.Gln1179His)
c.3405G>C (p.Gln1135His)
c.3273G>C (p.Gln1091His)
 dbSNP
20g.32436138G>TCA408563039ASXL1c.3426G>T (p.Gln1142His)
c.3243G>T (p.Gln1081His)
n.5779G>T
c.1869+1557G>T (n.1869+1557G>T)
c.3411G>T (p.Gln1137His)
c.3423G>T (p.Gln1141His)
c.3396G>T (p.Gln1132His)
c.3342G>T (p.Gln1114His)
c.2742G>T (p.Gln914His)
c.3690G>T (p.Gln1230His)
c.3687G>T (p.Gln1229His)
c.3606G>T (p.Gln1202His)
c.3537G>T (p.Gln1179His)
c.3405G>T (p.Gln1135His)
c.3273G>T (p.Gln1091His)
20g.32436139A=CA2360293551ASXL1c.3427A= (p.Ser1143=)
c.3244A= (p.Ser1082=)
n.5780A=
c.1869+1558A= (n.1869+1558A=)
c.3412A= (p.Ser1138=)
c.3424A= (p.Ser1142=)
c.3397A= (p.Ser1133=)
c.3343A= (p.Ser1115=)
c.2743A= (p.Ser915=)
c.3691A= (p.Ser1231=)
c.3688A= (p.Ser1230=)
c.3607A= (p.Ser1203=)
c.3538A= (p.Ser1180=)
c.3406A= (p.Ser1136=)
c.3274A= (p.Ser1092=)
20g.32436139A>CCA9808818ASXL1c.3427A>C (p.Ser1143Arg)
c.3244A>C (p.Ser1082Arg)
n.5780A>C
c.1869+1558A>C (n.1869+1558A>C)
c.3412A>C (p.Ser1138Arg)
c.3424A>C (p.Ser1142Arg)
c.3397A>C (p.Ser1133Arg)
c.3343A>C (p.Ser1115Arg)
c.2743A>C (p.Ser915Arg)
c.3691A>C (p.Ser1231Arg)
c.3688A>C (p.Ser1230Arg)
c.3607A>C (p.Ser1203Arg)
c.3538A>C (p.Ser1180Arg)
c.3406A>C (p.Ser1136Arg)
c.3274A>C (p.Ser1092Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436139A>GCA408563040ASXL1c.3427A>G (p.Ser1143Gly)
c.3244A>G (p.Ser1082Gly)
n.5780A>G
c.1869+1558A>G (n.1869+1558A>G)
c.3412A>G (p.Ser1138Gly)
c.3424A>G (p.Ser1142Gly)
c.3397A>G (p.Ser1133Gly)
c.3343A>G (p.Ser1115Gly)
c.2743A>G (p.Ser915Gly)
c.3691A>G (p.Ser1231Gly)
c.3688A>G (p.Ser1230Gly)
c.3607A>G (p.Ser1203Gly)
c.3538A>G (p.Ser1180Gly)
c.3406A>G (p.Ser1136Gly)
c.3274A>G (p.Ser1092Gly)
20g.32436139A>TCA408563041ASXL1c.3427A>T (p.Ser1143Cys)
c.3244A>T (p.Ser1082Cys)
n.5780A>T
c.1869+1558A>T (n.1869+1558A>T)
c.3412A>T (p.Ser1138Cys)
c.3424A>T (p.Ser1142Cys)
c.3397A>T (p.Ser1133Cys)
c.3343A>T (p.Ser1115Cys)
c.2743A>T (p.Ser915Cys)
c.3691A>T (p.Ser1231Cys)
c.3688A>T (p.Ser1230Cys)
c.3607A>T (p.Ser1203Cys)
c.3538A>T (p.Ser1180Cys)
c.3406A>T (p.Ser1136Cys)
c.3274A>T (p.Ser1092Cys)
20g.32436140G>ACA408563042ASXL1c.3428G>A (p.Ser1143Asn)
c.3245G>A (p.Ser1082Asn)
n.5781G>A
c.1869+1559G>A (n.1869+1559G>A)
c.3413G>A (p.Ser1138Asn)
c.3425G>A (p.Ser1142Asn)
c.3398G>A (p.Ser1133Asn)
c.3344G>A (p.Ser1115Asn)
c.2744G>A (p.Ser915Asn)
c.3692G>A (p.Ser1231Asn)
c.3689G>A (p.Ser1230Asn)
c.3608G>A (p.Ser1203Asn)
c.3539G>A (p.Ser1180Asn)
c.3407G>A (p.Ser1136Asn)
c.3275G>A (p.Ser1092Asn)
 dbSNP
20g.32436140G>CCA408563043ASXL1c.3428G>C (p.Ser1143Thr)
c.3245G>C (p.Ser1082Thr)
n.5781G>C
c.1869+1559G>C (n.1869+1559G>C)
c.3413G>C (p.Ser1138Thr)
c.3425G>C (p.Ser1142Thr)
c.3398G>C (p.Ser1133Thr)
c.3344G>C (p.Ser1115Thr)
c.2744G>C (p.Ser915Thr)
c.3692G>C (p.Ser1231Thr)
c.3689G>C (p.Ser1230Thr)
c.3608G>C (p.Ser1203Thr)
c.3539G>C (p.Ser1180Thr)
c.3407G>C (p.Ser1136Thr)
c.3275G>C (p.Ser1092Thr)
20g.32436140G>TCA408563044ASXL1c.3428G>T (p.Ser1143Ile)
c.3245G>T (p.Ser1082Ile)
n.5781G>T
c.1869+1559G>T (n.1869+1559G>T)
c.3413G>T (p.Ser1138Ile)
c.3425G>T (p.Ser1142Ile)
c.3398G>T (p.Ser1133Ile)
c.3344G>T (p.Ser1115Ile)
c.2744G>T (p.Ser915Ile)
c.3692G>T (p.Ser1231Ile)
c.3689G>T (p.Ser1230Ile)
c.3608G>T (p.Ser1203Ile)
c.3539G>T (p.Ser1180Ile)
c.3407G>T (p.Ser1136Ile)
c.3275G>T (p.Ser1092Ile)
20g.32436141C>ACA408563045ASXL1c.3429C>A (p.Ser1143Arg)
c.3246C>A (p.Ser1082Arg)
n.5782C>A
c.1869+1560C>A (n.1869+1560C>A)
c.3414C>A (p.Ser1138Arg)
c.3426C>A (p.Ser1142Arg)
c.3399C>A (p.Ser1133Arg)
c.3345C>A (p.Ser1115Arg)
c.2745C>A (p.Ser915Arg)
c.3693C>A (p.Ser1231Arg)
c.3690C>A (p.Ser1230Arg)
c.3609C>A (p.Ser1203Arg)
c.3540C>A (p.Ser1180Arg)
c.3408C>A (p.Ser1136Arg)
c.3276C>A (p.Ser1092Arg)
 dbSNP
20g.32436141C>GCA408563046ASXL1c.3429C>G (p.Ser1143Arg)
c.3246C>G (p.Ser1082Arg)
n.5782C>G
c.1869+1560C>G (n.1869+1560C>G)
c.3414C>G (p.Ser1138Arg)
c.3426C>G (p.Ser1142Arg)
c.3399C>G (p.Ser1133Arg)
c.3345C>G (p.Ser1115Arg)
c.2745C>G (p.Ser915Arg)
c.3693C>G (p.Ser1231Arg)
c.3690C>G (p.Ser1230Arg)
c.3609C>G (p.Ser1203Arg)
c.3540C>G (p.Ser1180Arg)
c.3408C>G (p.Ser1136Arg)
c.3276C>G (p.Ser1092Arg)
20g.32436141C>TCA510467242ASXL1c.3429C>T (p.Ser1143=)
c.3246C>T (p.Ser1082=)
n.5782C>T
c.1869+1560C>T (n.1869+1560C>T)
c.3414C>T (p.Ser1138=)
c.3426C>T (p.Ser1142=)
c.3399C>T (p.Ser1133=)
c.3345C>T (p.Ser1115=)
c.2745C>T (p.Ser915=)
c.3693C>T (p.Ser1231=)
c.3690C>T (p.Ser1230=)
c.3609C>T (p.Ser1203=)
c.3540C>T (p.Ser1180=)
c.3408C>T (p.Ser1136=)
c.3276C>T (p.Ser1092=)
20g.32436141_32436155delinsCCATGGCTCGCTACGCA2360293552ASXL1c.3429_3443delinsCCATGGCTCGCTACG (p.Ser1143=)
c.3246_3260delinsCCATGGCTCGCTACG (p.Ser1082=)
n.5782_5796delinsCCATGGCTCGCTACG
c.1869+1560_1869+1574delinsCCATGGCTCGCTACG (n.1869+1560_1869+1574delinsCCATGGCTCGCTACG)
c.3414_3428delinsCCATGGCTCGCTACG (p.Ser1138=)
c.3426_3440delinsCCATGGCTCGCTACG (p.Ser1142=)
c.3399_3413delinsCCATGGCTCGCTACG (p.Ser1133=)
c.3345_3359delinsCCATGGCTCGCTACG (p.Ser1115=)
c.2745_2759delinsCCATGGCTCGCTACG (p.Ser915=)
c.3693_3707delinsCCATGGCTCGCTACG (p.Ser1231=)
c.3690_3704delinsCCATGGCTCGCTACG (p.Ser1230=)
c.3609_3623delinsCCATGGCTCGCTACG (p.Ser1203=)
c.3540_3554delinsCCATGGCTCGCTACG (p.Ser1180=)
c.3408_3422delinsCCATGGCTCGCTACG (p.Ser1136=)
c.3276_3290delinsCCATGGCTCGCTACG (p.Ser1092=)
20g.32436142C>ACA408563049ASXL1c.3430C>A (p.His1144Asn)
c.3247C>A (p.His1083Asn)
n.5783C>A
c.1869+1561C>A (n.1869+1561C>A)
c.3415C>A (p.His1139Asn)
c.3427C>A (p.His1143Asn)
c.3400C>A (p.His1134Asn)
c.3346C>A (p.His1116Asn)
c.2746C>A (p.His916Asn)
c.3694C>A (p.His1232Asn)
c.3691C>A (p.His1231Asn)
c.3610C>A (p.His1204Asn)
c.3541C>A (p.His1181Asn)
c.3409C>A (p.His1137Asn)
c.3277C>A (p.His1093Asn)
20g.32436142C>GCA408563048ASXL1c.3430C>G (p.His1144Asp)
c.3247C>G (p.His1083Asp)
n.5783C>G
c.1869+1561C>G (n.1869+1561C>G)
c.3415C>G (p.His1139Asp)
c.3427C>G (p.His1143Asp)
c.3400C>G (p.His1134Asp)
c.3346C>G (p.His1116Asp)
c.2746C>G (p.His916Asp)
c.3694C>G (p.His1232Asp)
c.3691C>G (p.His1231Asp)
c.3610C>G (p.His1204Asp)
c.3541C>G (p.His1181Asp)
c.3409C>G (p.His1137Asp)
c.3277C>G (p.His1093Asp)
20g.32436142C>TCA408563047ASXL1c.3430C>T (p.His1144Tyr)
c.3247C>T (p.His1083Tyr)
n.5783C>T
c.1869+1561C>T (n.1869+1561C>T)
c.3415C>T (p.His1139Tyr)
c.3427C>T (p.His1143Tyr)
c.3400C>T (p.His1134Tyr)
c.3346C>T (p.His1116Tyr)
c.2746C>T (p.His916Tyr)
c.3694C>T (p.His1232Tyr)
c.3691C>T (p.His1231Tyr)
c.3610C>T (p.His1204Tyr)
c.3541C>T (p.His1181Tyr)
c.3409C>T (p.His1137Tyr)
c.3277C>T (p.His1093Tyr)
20g.32436147_32436160delCA9808819ASXL1c.3435_3448del (p.Ser1146IlefsTer13)
c.3252_3265del (p.Ser1085IlefsTer13)
n.5788_5801del
c.1869+1566_1869+1579del (n.1869+1566_1869+1579del)
c.3420_3433del (p.Ser1141IlefsTer13)
c.3432_3445del (p.Ser1145IlefsTer13)
c.3405_3418del (p.Ser1136IlefsTer13)
c.3351_3364del (p.Ser1118IlefsTer13)
c.2751_2764del (p.Ser918IlefsTer13)
c.3699_3712del (p.Ser1234IlefsTer13)
c.3696_3709del (p.Ser1233IlefsTer13)
c.3615_3628del (p.Ser1206IlefsTer13)
c.3546_3559del (p.Ser1183IlefsTer13)
c.3414_3427del (p.Ser1139IlefsTer13)
c.3282_3295del (p.Ser1095IlefsTer13)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436143A=CA2360293553ASXL1c.3431A= (p.His1144=)
c.3248A= (p.His1083=)
n.5784A=
c.1869+1562A= (n.1869+1562A=)
c.3416A= (p.His1139=)
c.3428A= (p.His1143=)
c.3401A= (p.His1134=)
c.3347A= (p.His1116=)
c.2747A= (p.His916=)
c.3695A= (p.His1232=)
c.3692A= (p.His1231=)
c.3611A= (p.His1204=)
c.3542A= (p.His1181=)
c.3410A= (p.His1137=)
c.3278A= (p.His1093=)
20g.32436143A>CCA408563050ASXL1c.3431A>C (p.His1144Pro)
c.3248A>C (p.His1083Pro)
n.5784A>C
c.1869+1562A>C (n.1869+1562A>C)
c.3416A>C (p.His1139Pro)
c.3428A>C (p.His1143Pro)
c.3401A>C (p.His1134Pro)
c.3347A>C (p.His1116Pro)
c.2747A>C (p.His916Pro)
c.3695A>C (p.His1232Pro)
c.3692A>C (p.His1231Pro)
c.3611A>C (p.His1204Pro)
c.3542A>C (p.His1181Pro)
c.3410A>C (p.His1137Pro)
c.3278A>C (p.His1093Pro)
20g.32436143A>GCA9808820ASXL1c.3431A>G (p.His1144Arg)
c.3248A>G (p.His1083Arg)
n.5784A>G
c.1869+1562A>G (n.1869+1562A>G)
c.3416A>G (p.His1139Arg)
c.3428A>G (p.His1143Arg)
c.3401A>G (p.His1134Arg)
c.3347A>G (p.His1116Arg)
c.2747A>G (p.His916Arg)
c.3695A>G (p.His1232Arg)
c.3692A>G (p.His1231Arg)
c.3611A>G (p.His1204Arg)
c.3542A>G (p.His1181Arg)
c.3410A>G (p.His1137Arg)
c.3278A>G (p.His1093Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436143A>TCA408563051ASXL1c.3431A>T (p.His1144Leu)
c.3248A>T (p.His1083Leu)
n.5784A>T
c.1869+1562A>T (n.1869+1562A>T)
c.3416A>T (p.His1139Leu)
c.3428A>T (p.His1143Leu)
c.3401A>T (p.His1134Leu)
c.3347A>T (p.His1116Leu)
c.2747A>T (p.His916Leu)
c.3695A>T (p.His1232Leu)
c.3692A>T (p.His1231Leu)
c.3611A>T (p.His1204Leu)
c.3542A>T (p.His1181Leu)
c.3410A>T (p.His1137Leu)
c.3278A>T (p.His1093Leu)
20g.32436144T>ACA408563052ASXL1c.3432T>A (p.His1144Gln)
c.3249T>A (p.His1083Gln)
n.5785T>A
c.1869+1563T>A (n.1869+1563T>A)
c.3417T>A (p.His1139Gln)
c.3429T>A (p.His1143Gln)
c.3402T>A (p.His1134Gln)
c.3348T>A (p.His1116Gln)
c.2748T>A (p.His916Gln)
c.3696T>A (p.His1232Gln)
c.3693T>A (p.His1231Gln)
c.3612T>A (p.His1204Gln)
c.3543T>A (p.His1181Gln)
c.3411T>A (p.His1137Gln)
c.3279T>A (p.His1093Gln)
20g.32436144T>CCA510467243ASXL1c.3432T>C (p.His1144=)
c.3249T>C (p.His1083=)
n.5785T>C
c.1869+1563T>C (n.1869+1563T>C)
c.3417T>C (p.His1139=)
c.3429T>C (p.His1143=)
c.3402T>C (p.His1134=)
c.3348T>C (p.His1116=)
c.2748T>C (p.His916=)
c.3696T>C (p.His1232=)
c.3693T>C (p.His1231=)
c.3612T>C (p.His1204=)
c.3543T>C (p.His1181=)
c.3411T>C (p.His1137=)
c.3279T>C (p.His1093=)
20g.32436144T>GCA408563053ASXL1c.3432T>G (p.His1144Gln)
c.3249T>G (p.His1083Gln)
n.5785T>G
c.1869+1563T>G (n.1869+1563T>G)
c.3417T>G (p.His1139Gln)
c.3429T>G (p.His1143Gln)
c.3402T>G (p.His1134Gln)
c.3348T>G (p.His1116Gln)
c.2748T>G (p.His916Gln)
c.3696T>G (p.His1232Gln)
c.3693T>G (p.His1231Gln)
c.3612T>G (p.His1204Gln)
c.3543T>G (p.His1181Gln)
c.3411T>G (p.His1137Gln)
c.3279T>G (p.His1093Gln)
20g.32436145G>ACA408563054ASXL1c.3433G>A (p.Gly1145Ser)
c.3250G>A (p.Gly1084Ser)
n.5786G>A
c.1869+1564G>A (n.1869+1564G>A)
c.3418G>A (p.Gly1140Ser)
c.3430G>A (p.Gly1144Ser)
c.3403G>A (p.Gly1135Ser)
c.3349G>A (p.Gly1117Ser)
c.2749G>A (p.Gly917Ser)
c.3697G>A (p.Gly1233Ser)
c.3694G>A (p.Gly1232Ser)
c.3613G>A (p.Gly1205Ser)
c.3544G>A (p.Gly1182Ser)
c.3412G>A (p.Gly1138Ser)
c.3280G>A (p.Gly1094Ser)
20g.32436145G>CCA408563055ASXL1c.3433G>C (p.Gly1145Arg)
c.3250G>C (p.Gly1084Arg)
n.5786G>C
c.1869+1564G>C (n.1869+1564G>C)
c.3418G>C (p.Gly1140Arg)
c.3430G>C (p.Gly1144Arg)
c.3403G>C (p.Gly1135Arg)
c.3349G>C (p.Gly1117Arg)
c.2749G>C (p.Gly917Arg)
c.3697G>C (p.Gly1233Arg)
c.3694G>C (p.Gly1232Arg)
c.3613G>C (p.Gly1205Arg)
c.3544G>C (p.Gly1182Arg)
c.3412G>C (p.Gly1138Arg)
c.3280G>C (p.Gly1094Arg)
20g.32436145G>TCA408563056ASXL1c.3433G>T (p.Gly1145Cys)
c.3250G>T (p.Gly1084Cys)
n.5786G>T
c.1869+1564G>T (n.1869+1564G>T)
c.3418G>T (p.Gly1140Cys)
c.3430G>T (p.Gly1144Cys)
c.3403G>T (p.Gly1135Cys)
c.3349G>T (p.Gly1117Cys)
c.2749G>T (p.Gly917Cys)
c.3697G>T (p.Gly1233Cys)
c.3694G>T (p.Gly1232Cys)
c.3613G>T (p.Gly1205Cys)
c.3544G>T (p.Gly1182Cys)
c.3412G>T (p.Gly1138Cys)
c.3280G>T (p.Gly1094Cys)
20g.32436146G>ACA9808821ASXL1c.3434G>A (p.Gly1145Asp)
c.3251G>A (p.Gly1084Asp)
n.5787G>A
c.1869+1565G>A (n.1869+1565G>A)
c.3419G>A (p.Gly1140Asp)
c.3431G>A (p.Gly1144Asp)
c.3404G>A (p.Gly1135Asp)
c.3350G>A (p.Gly1117Asp)
c.2750G>A (p.Gly917Asp)
c.3698G>A (p.Gly1233Asp)
c.3695G>A (p.Gly1232Asp)
c.3614G>A (p.Gly1205Asp)
c.3545G>A (p.Gly1182Asp)
c.3413G>A (p.Gly1138Asp)
c.3281G>A (p.Gly1094Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436146G>CCA408563057ASXL1c.3434G>C (p.Gly1145Ala)
c.3251G>C (p.Gly1084Ala)
n.5787G>C
c.1869+1565G>C (n.1869+1565G>C)
c.3419G>C (p.Gly1140Ala)
c.3431G>C (p.Gly1144Ala)
c.3404G>C (p.Gly1135Ala)
c.3350G>C (p.Gly1117Ala)
c.2750G>C (p.Gly917Ala)
c.3698G>C (p.Gly1233Ala)
c.3695G>C (p.Gly1232Ala)
c.3614G>C (p.Gly1205Ala)
c.3545G>C (p.Gly1182Ala)
c.3413G>C (p.Gly1138Ala)
c.3281G>C (p.Gly1094Ala)
 dbSNP
20g.32436146G=CA2360293554ASXL1c.3434G= (p.Gly1145=)
c.3251G= (p.Gly1084=)
n.5787G=
c.1869+1565G= (n.1869+1565G=)
c.3419G= (p.Gly1140=)
c.3431G= (p.Gly1144=)
c.3404G= (p.Gly1135=)
c.3350G= (p.Gly1117=)
c.2750G= (p.Gly917=)
c.3698G= (p.Gly1233=)
c.3695G= (p.Gly1232=)
c.3614G= (p.Gly1205=)
c.3545G= (p.Gly1182=)
c.3413G= (p.Gly1138=)
c.3281G= (p.Gly1094=)
20g.32436146G>TCA408563058ASXL1c.3434G>T (p.Gly1145Val)
c.3251G>T (p.Gly1084Val)
n.5787G>T
c.1869+1565G>T (n.1869+1565G>T)
c.3419G>T (p.Gly1140Val)
c.3431G>T (p.Gly1144Val)
c.3404G>T (p.Gly1135Val)
c.3350G>T (p.Gly1117Val)
c.2750G>T (p.Gly917Val)
c.3698G>T (p.Gly1233Val)
c.3695G>T (p.Gly1232Val)
c.3614G>T (p.Gly1205Val)
c.3545G>T (p.Gly1182Val)
c.3413G>T (p.Gly1138Val)
c.3281G>T (p.Gly1094Val)
20g.32436147C>ACA510467245ASXL1c.3435C>A (p.Gly1145=)
c.3252C>A (p.Gly1084=)
n.5788C>A
c.1869+1566C>A (n.1869+1566C>A)
c.3420C>A (p.Gly1140=)
c.3432C>A (p.Gly1144=)
c.3405C>A (p.Gly1135=)
c.3351C>A (p.Gly1117=)
c.2751C>A (p.Gly917=)
c.3699C>A (p.Gly1233=)
c.3696C>A (p.Gly1232=)
c.3615C>A (p.Gly1205=)
c.3546C>A (p.Gly1182=)
c.3414C>A (p.Gly1138=)
c.3282C>A (p.Gly1094=)
20g.32436147C=CA2360293555ASXL1c.3435C= (p.Gly1145=)
c.3252C= (p.Gly1084=)
n.5788C=
c.1869+1566C= (n.1869+1566C=)
c.3420C= (p.Gly1140=)
c.3432C= (p.Gly1144=)
c.3405C= (p.Gly1135=)
c.3351C= (p.Gly1117=)
c.2751C= (p.Gly917=)
c.3699C= (p.Gly1233=)
c.3696C= (p.Gly1232=)
c.3615C= (p.Gly1205=)
c.3546C= (p.Gly1182=)
c.3414C= (p.Gly1138=)
c.3282C= (p.Gly1094=)
20g.32436147C>GCA510467244ASXL1c.3435C>G (p.Gly1145=)
c.3252C>G (p.Gly1084=)
n.5788C>G
c.1869+1566C>G (n.1869+1566C>G)
c.3420C>G (p.Gly1140=)
c.3432C>G (p.Gly1144=)
c.3405C>G (p.Gly1135=)
c.3351C>G (p.Gly1117=)
c.2751C>G (p.Gly917=)
c.3699C>G (p.Gly1233=)
c.3696C>G (p.Gly1232=)
c.3615C>G (p.Gly1205=)
c.3546C>G (p.Gly1182=)
c.3414C>G (p.Gly1138=)
c.3282C>G (p.Gly1094=)
20g.32436147C>TCA9808822ASXL1c.3435C>T (p.Gly1145=)
c.3252C>T (p.Gly1084=)
n.5788C>T
c.1869+1566C>T (n.1869+1566C>T)
c.3420C>T (p.Gly1140=)
c.3432C>T (p.Gly1144=)
c.3405C>T (p.Gly1135=)
c.3351C>T (p.Gly1117=)
c.2751C>T (p.Gly917=)
c.3699C>T (p.Gly1233=)
c.3696C>T (p.Gly1232=)
c.3615C>T (p.Gly1205=)
c.3546C>T (p.Gly1182=)
c.3414C>T (p.Gly1138=)
c.3282C>T (p.Gly1094=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436148T>ACA408563061ASXL1c.3436T>A (p.Ser1146Thr)
c.3253T>A (p.Ser1085Thr)
n.5789T>A
c.1869+1567T>A (n.1869+1567T>A)
c.3421T>A (p.Ser1141Thr)
c.3433T>A (p.Ser1145Thr)
c.3406T>A (p.Ser1136Thr)
c.3352T>A (p.Ser1118Thr)
c.2752T>A (p.Ser918Thr)
c.3700T>A (p.Ser1234Thr)
c.3697T>A (p.Ser1233Thr)
c.3616T>A (p.Ser1206Thr)
c.3547T>A (p.Ser1183Thr)
c.3415T>A (p.Ser1139Thr)
c.3283T>A (p.Ser1095Thr)
 dbSNP
20g.32436148T>CCA408563060ASXL1c.3436T>C (p.Ser1146Pro)
c.3253T>C (p.Ser1085Pro)
n.5789T>C
c.1869+1567T>C (n.1869+1567T>C)
c.3421T>C (p.Ser1141Pro)
c.3433T>C (p.Ser1145Pro)
c.3406T>C (p.Ser1136Pro)
c.3352T>C (p.Ser1118Pro)
c.2752T>C (p.Ser918Pro)
c.3700T>C (p.Ser1234Pro)
c.3697T>C (p.Ser1233Pro)
c.3616T>C (p.Ser1206Pro)
c.3547T>C (p.Ser1183Pro)
c.3415T>C (p.Ser1139Pro)
c.3283T>C (p.Ser1095Pro)
 dbSNP gnomAD v3 gnomAD v4
20g.32436148T>GCA408563059ASXL1c.3436T>G (p.Ser1146Ala)
c.3253T>G (p.Ser1085Ala)
n.5789T>G
c.1869+1567T>G (n.1869+1567T>G)
c.3421T>G (p.Ser1141Ala)
c.3433T>G (p.Ser1145Ala)
c.3406T>G (p.Ser1136Ala)
c.3352T>G (p.Ser1118Ala)
c.2752T>G (p.Ser918Ala)
c.3700T>G (p.Ser1234Ala)
c.3697T>G (p.Ser1233Ala)
c.3616T>G (p.Ser1206Ala)
c.3547T>G (p.Ser1183Ala)
c.3415T>G (p.Ser1139Ala)
c.3283T>G (p.Ser1095Ala)
20g.32436148T=CA2360293556ASXL1c.3436T= (p.Ser1146=)
c.3253T= (p.Ser1085=)
n.5789T=
c.1869+1567T= (n.1869+1567T=)
c.3421T= (p.Ser1141=)
c.3433T= (p.Ser1145=)
c.3406T= (p.Ser1136=)
c.3352T= (p.Ser1118=)
c.2752T= (p.Ser918=)
c.3700T= (p.Ser1234=)
c.3697T= (p.Ser1233=)
c.3616T= (p.Ser1206=)
c.3547T= (p.Ser1183=)
c.3415T= (p.Ser1139=)
c.3283T= (p.Ser1095=)
20g.32436149C>ACA408563062ASXL1c.3437C>A (p.Ser1146Ter)
c.3254C>A (p.Ser1085Ter)
n.5790C>A
c.1869+1568C>A (n.1869+1568C>A)
c.3422C>A (p.Ser1141Ter)
c.3434C>A (p.Ser1145Ter)
c.3407C>A (p.Ser1136Ter)
c.3353C>A (p.Ser1118Ter)
c.2753C>A (p.Ser918Ter)
c.3701C>A (p.Ser1234Ter)
c.3698C>A (p.Ser1233Ter)
c.3617C>A (p.Ser1206Ter)
c.3548C>A (p.Ser1183Ter)
c.3416C>A (p.Ser1139Ter)
c.3284C>A (p.Ser1095Ter)
 ClinVar dbSNP
20g.32436149C=CA2360293557ASXL1c.3437C= (p.Ser1146=)
c.3254C= (p.Ser1085=)
n.5790C=
c.1869+1568C= (n.1869+1568C=)
c.3422C= (p.Ser1141=)
c.3434C= (p.Ser1145=)
c.3407C= (p.Ser1136=)
c.3353C= (p.Ser1118=)
c.2753C= (p.Ser918=)
c.3701C= (p.Ser1234=)
c.3698C= (p.Ser1233=)
c.3617C= (p.Ser1206=)
c.3548C= (p.Ser1183=)
c.3416C= (p.Ser1139=)
c.3284C= (p.Ser1095=)
20g.32436149C>GCA408563063ASXL1c.3437C>G (p.Ser1146Trp)
c.3254C>G (p.Ser1085Trp)
n.5790C>G
c.1869+1568C>G (n.1869+1568C>G)
c.3422C>G (p.Ser1141Trp)
c.3434C>G (p.Ser1145Trp)
c.3407C>G (p.Ser1136Trp)
c.3353C>G (p.Ser1118Trp)
c.2753C>G (p.Ser918Trp)
c.3701C>G (p.Ser1234Trp)
c.3698C>G (p.Ser1233Trp)
c.3617C>G (p.Ser1206Trp)
c.3548C>G (p.Ser1183Trp)
c.3416C>G (p.Ser1139Trp)
c.3284C>G (p.Ser1095Trp)
20g.32436149C>TCA9808823ASXL1c.3437C>T (p.Ser1146Leu)
c.3254C>T (p.Ser1085Leu)
n.5790C>T
c.1869+1568C>T (n.1869+1568C>T)
c.3422C>T (p.Ser1141Leu)
c.3434C>T (p.Ser1145Leu)
c.3407C>T (p.Ser1136Leu)
c.3353C>T (p.Ser1118Leu)
c.2753C>T (p.Ser918Leu)
c.3701C>T (p.Ser1234Leu)
c.3698C>T (p.Ser1233Leu)
c.3617C>T (p.Ser1206Leu)
c.3548C>T (p.Ser1183Leu)
c.3416C>T (p.Ser1139Leu)
c.3284C>T (p.Ser1095Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436149dupCA2652401206ASXL1c.3437dup (p.Leu1147AlafsTer17)
c.3254dup (p.Leu1086AlafsTer17)
n.5790dup
c.1869+1568dup (n.1869+1568dup)
c.3422dup (p.Leu1142AlafsTer17)
c.3434dup (p.Leu1146AlafsTer17)
c.3407dup (p.Leu1137AlafsTer17)
c.3353dup (p.Leu1119AlafsTer17)
c.2753dup (p.Leu919AlafsTer17)
c.3701dup (p.Leu1235AlafsTer17)
c.3698dup (p.Leu1234AlafsTer17)
c.3617dup (p.Leu1207AlafsTer17)
c.3548dup (p.Leu1184AlafsTer17)
c.3416dup (p.Leu1140AlafsTer17)
c.3284dup (p.Leu1096AlafsTer17)
 gnomAD v4
20g.32436150G>ACA9808824ASXL1c.3438G>A (p.Ser1146=)
c.3255G>A (p.Ser1085=)
n.5791G>A
c.1869+1569G>A (n.1869+1569G>A)
c.3423G>A (p.Ser1141=)
c.3435G>A (p.Ser1145=)
c.3408G>A (p.Ser1136=)
c.3354G>A (p.Ser1118=)
c.2754G>A (p.Ser918=)
c.3702G>A (p.Ser1234=)
c.3699G>A (p.Ser1233=)
c.3618G>A (p.Ser1206=)
c.3549G>A (p.Ser1183=)
c.3417G>A (p.Ser1139=)
c.3285G>A (p.Ser1095=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436150G>CCA510467246ASXL1c.3438G>C (p.Ser1146=)
c.3255G>C (p.Ser1085=)
n.5791G>C
c.1869+1569G>C (n.1869+1569G>C)
c.3423G>C (p.Ser1141=)
c.3435G>C (p.Ser1145=)
c.3408G>C (p.Ser1136=)
c.3354G>C (p.Ser1118=)
c.2754G>C (p.Ser918=)
c.3702G>C (p.Ser1234=)
c.3699G>C (p.Ser1233=)
c.3618G>C (p.Ser1206=)
c.3549G>C (p.Ser1183=)
c.3417G>C (p.Ser1139=)
c.3285G>C (p.Ser1095=)
20g.32436150G=CA2360293558ASXL1c.3438G= (p.Ser1146=)
c.3255G= (p.Ser1085=)
n.5791G=
c.1869+1569G= (n.1869+1569G=)
c.3423G= (p.Ser1141=)
c.3435G= (p.Ser1145=)
c.3408G= (p.Ser1136=)
c.3354G= (p.Ser1118=)
c.2754G= (p.Ser918=)
c.3702G= (p.Ser1234=)
c.3699G= (p.Ser1233=)
c.3618G= (p.Ser1206=)
c.3549G= (p.Ser1183=)
c.3417G= (p.Ser1139=)
c.3285G= (p.Ser1095=)
20g.32436150G>TCA510467247ASXL1c.3438G>T (p.Ser1146=)
c.3255G>T (p.Ser1085=)
n.5791G>T
c.1869+1569G>T (n.1869+1569G>T)
c.3423G>T (p.Ser1141=)
c.3435G>T (p.Ser1145=)
c.3408G>T (p.Ser1136=)
c.3354G>T (p.Ser1118=)
c.2754G>T (p.Ser918=)
c.3702G>T (p.Ser1234=)
c.3699G>T (p.Ser1233=)
c.3618G>T (p.Ser1206=)
c.3549G>T (p.Ser1183=)
c.3417G>T (p.Ser1139=)
c.3285G>T (p.Ser1095=)
 gnomAD v4
20g.32436151C>ACA408563064ASXL1c.3439C>A (p.Leu1147Ile)
c.3256C>A (p.Leu1086Ile)
n.5792C>A
c.1869+1570C>A (n.1869+1570C>A)
c.3424C>A (p.Leu1142Ile)
c.3436C>A (p.Leu1146Ile)
c.3409C>A (p.Leu1137Ile)
c.3355C>A (p.Leu1119Ile)
c.2755C>A (p.Leu919Ile)
c.3703C>A (p.Leu1235Ile)
c.3700C>A (p.Leu1234Ile)
c.3619C>A (p.Leu1207Ile)
c.3550C>A (p.Leu1184Ile)
c.3418C>A (p.Leu1140Ile)
c.3286C>A (p.Leu1096Ile)
20g.32436151C>GCA408563065ASXL1c.3439C>G (p.Leu1147Val)
c.3256C>G (p.Leu1086Val)
n.5792C>G
c.1869+1570C>G (n.1869+1570C>G)
c.3424C>G (p.Leu1142Val)
c.3436C>G (p.Leu1146Val)
c.3409C>G (p.Leu1137Val)
c.3355C>G (p.Leu1119Val)
c.2755C>G (p.Leu919Val)
c.3703C>G (p.Leu1235Val)
c.3700C>G (p.Leu1234Val)
c.3619C>G (p.Leu1207Val)
c.3550C>G (p.Leu1184Val)
c.3418C>G (p.Leu1140Val)
c.3286C>G (p.Leu1096Val)
 gnomAD v4
20g.32436151C>TCA510467248ASXL1c.3439C>T (p.Leu1147=)
c.3256C>T (p.Leu1086=)
n.5792C>T
c.1869+1570C>T (n.1869+1570C>T)
c.3424C>T (p.Leu1142=)
c.3436C>T (p.Leu1146=)
c.3409C>T (p.Leu1137=)
c.3355C>T (p.Leu1119=)
c.2755C>T (p.Leu919=)
c.3703C>T (p.Leu1235=)
c.3700C>T (p.Leu1234=)
c.3619C>T (p.Leu1207=)
c.3550C>T (p.Leu1184=)
c.3418C>T (p.Leu1140=)
c.3286C>T (p.Leu1096=)
20g.32436152T>ACA408563066ASXL1c.3440T>A (p.Leu1147Gln)
c.3257T>A (p.Leu1086Gln)
n.5793T>A
c.1869+1571T>A (n.1869+1571T>A)
c.3425T>A (p.Leu1142Gln)
c.3437T>A (p.Leu1146Gln)
c.3410T>A (p.Leu1137Gln)
c.3356T>A (p.Leu1119Gln)
c.2756T>A (p.Leu919Gln)
c.3704T>A (p.Leu1235Gln)
c.3701T>A (p.Leu1234Gln)
c.3620T>A (p.Leu1207Gln)
c.3551T>A (p.Leu1184Gln)
c.3419T>A (p.Leu1140Gln)
c.3287T>A (p.Leu1096Gln)
20g.32436152T>CCA408563067ASXL1c.3440T>C (p.Leu1147Pro)
c.3257T>C (p.Leu1086Pro)
n.5793T>C
c.1869+1571T>C (n.1869+1571T>C)
c.3425T>C (p.Leu1142Pro)
c.3437T>C (p.Leu1146Pro)
c.3410T>C (p.Leu1137Pro)
c.3356T>C (p.Leu1119Pro)
c.2756T>C (p.Leu919Pro)
c.3704T>C (p.Leu1235Pro)
c.3701T>C (p.Leu1234Pro)
c.3620T>C (p.Leu1207Pro)
c.3551T>C (p.Leu1184Pro)
c.3419T>C (p.Leu1140Pro)
c.3287T>C (p.Leu1096Pro)
20g.32436152T>GCA408563068ASXL1c.3440T>G (p.Leu1147Arg)
c.3257T>G (p.Leu1086Arg)
n.5793T>G
c.1869+1571T>G (n.1869+1571T>G)
c.3425T>G (p.Leu1142Arg)
c.3437T>G (p.Leu1146Arg)
c.3410T>G (p.Leu1137Arg)
c.3356T>G (p.Leu1119Arg)
c.2756T>G (p.Leu919Arg)
c.3704T>G (p.Leu1235Arg)
c.3701T>G (p.Leu1234Arg)
c.3620T>G (p.Leu1207Arg)
c.3551T>G (p.Leu1184Arg)
c.3419T>G (p.Leu1140Arg)
c.3287T>G (p.Leu1096Arg)
20g.32436153A>CCA510467249ASXL1c.3441A>C (p.Leu1147=)
c.3258A>C (p.Leu1086=)
n.5794A>C
c.1869+1572A>C (n.1869+1572A>C)
c.3426A>C (p.Leu1142=)
c.3438A>C (p.Leu1146=)
c.3411A>C (p.Leu1137=)
c.3357A>C (p.Leu1119=)
c.2757A>C (p.Leu919=)
c.3705A>C (p.Leu1235=)
c.3702A>C (p.Leu1234=)
c.3621A>C (p.Leu1207=)
c.3552A>C (p.Leu1184=)
c.3420A>C (p.Leu1140=)
c.3288A>C (p.Leu1096=)
20g.32436153A>GCA510467251ASXL1c.3441A>G (p.Leu1147=)
c.3258A>G (p.Leu1086=)
n.5794A>G
c.1869+1572A>G (n.1869+1572A>G)
c.3426A>G (p.Leu1142=)
c.3438A>G (p.Leu1146=)
c.3411A>G (p.Leu1137=)
c.3357A>G (p.Leu1119=)
c.2757A>G (p.Leu919=)
c.3705A>G (p.Leu1235=)
c.3702A>G (p.Leu1234=)
c.3621A>G (p.Leu1207=)
c.3552A>G (p.Leu1184=)
c.3420A>G (p.Leu1140=)
c.3288A>G (p.Leu1096=)
 dbSNP
20g.32436153A>TCA510467250ASXL1c.3441A>T (p.Leu1147=)
c.3258A>T (p.Leu1086=)
n.5794A>T
c.1869+1572A>T (n.1869+1572A>T)
c.3426A>T (p.Leu1142=)
c.3438A>T (p.Leu1146=)
c.3411A>T (p.Leu1137=)
c.3357A>T (p.Leu1119=)
c.2757A>T (p.Leu919=)
c.3705A>T (p.Leu1235=)
c.3702A>T (p.Leu1234=)
c.3621A>T (p.Leu1207=)
c.3552A>T (p.Leu1184=)
c.3420A>T (p.Leu1140=)
c.3288A>T (p.Leu1096=)
 dbSNP gnomAD v4
20g.32436154C>ACA408563070ASXL1c.3442C>A (p.Arg1148Ser)
c.3259C>A (p.Arg1087Ser)
n.5795C>A
c.1869+1573C>A (n.1869+1573C>A)
c.3427C>A (p.Arg1143Ser)
c.3439C>A (p.Arg1147Ser)
c.3412C>A (p.Arg1138Ser)
c.3358C>A (p.Arg1120Ser)
c.2758C>A (p.Arg920Ser)
c.3706C>A (p.Arg1236Ser)
c.3703C>A (p.Arg1235Ser)
c.3622C>A (p.Arg1208Ser)
c.3553C>A (p.Arg1185Ser)
c.3421C>A (p.Arg1141Ser)
c.3289C>A (p.Arg1097Ser)
20g.32436154C=CA2360293559ASXL1c.3442C= (p.Arg1148=)
c.3259C= (p.Arg1087=)
n.5795C=
c.1869+1573C= (n.1869+1573C=)
c.3427C= (p.Arg1143=)
c.3439C= (p.Arg1147=)
c.3412C= (p.Arg1138=)
c.3358C= (p.Arg1120=)
c.2758C= (p.Arg920=)
c.3706C= (p.Arg1236=)
c.3703C= (p.Arg1235=)
c.3622C= (p.Arg1208=)
c.3553C= (p.Arg1185=)
c.3421C= (p.Arg1141=)
c.3289C= (p.Arg1097=)
20g.32436154C>GCA408563069ASXL1c.3442C>G (p.Arg1148Gly)
c.3259C>G (p.Arg1087Gly)
n.5795C>G
c.1869+1573C>G (n.1869+1573C>G)
c.3427C>G (p.Arg1143Gly)
c.3439C>G (p.Arg1147Gly)
c.3412C>G (p.Arg1138Gly)
c.3358C>G (p.Arg1120Gly)
c.2758C>G (p.Arg920Gly)
c.3706C>G (p.Arg1236Gly)
c.3703C>G (p.Arg1235Gly)
c.3622C>G (p.Arg1208Gly)
c.3553C>G (p.Arg1185Gly)
c.3421C>G (p.Arg1141Gly)
c.3289C>G (p.Arg1097Gly)
20g.32436154C>TCA157002ASXL1c.3442C>T (p.Arg1148Cys)
c.3259C>T (p.Arg1087Cys)
n.5795C>T
c.1869+1573C>T (n.1869+1573C>T)
c.3427C>T (p.Arg1143Cys)
c.3439C>T (p.Arg1147Cys)
c.3412C>T (p.Arg1138Cys)
c.3358C>T (p.Arg1120Cys)
c.2758C>T (p.Arg920Cys)
c.3706C>T (p.Arg1236Cys)
c.3703C>T (p.Arg1235Cys)
c.3622C>T (p.Arg1208Cys)
c.3553C>T (p.Arg1185Cys)
c.3421C>T (p.Arg1141Cys)
c.3289C>T (p.Arg1097Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436155G>ACA9808825ASXL1c.3443G>A (p.Arg1148His)
c.3260G>A (p.Arg1087His)
n.5796G>A
c.1869+1574G>A (n.1869+1574G>A)
c.3428G>A (p.Arg1143His)
c.3440G>A (p.Arg1147His)
c.3413G>A (p.Arg1138His)
c.3359G>A (p.Arg1120His)
c.2759G>A (p.Arg920His)
c.3707G>A (p.Arg1236His)
c.3704G>A (p.Arg1235His)
c.3623G>A (p.Arg1208His)
c.3554G>A (p.Arg1185His)
c.3422G>A (p.Arg1141His)
c.3290G>A (p.Arg1097His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436155G>CCA408563071ASXL1c.3443G>C (p.Arg1148Pro)
c.3260G>C (p.Arg1087Pro)
n.5796G>C
c.1869+1574G>C (n.1869+1574G>C)
c.3428G>C (p.Arg1143Pro)
c.3440G>C (p.Arg1147Pro)
c.3413G>C (p.Arg1138Pro)
c.3359G>C (p.Arg1120Pro)
c.2759G>C (p.Arg920Pro)
c.3707G>C (p.Arg1236Pro)
c.3704G>C (p.Arg1235Pro)
c.3623G>C (p.Arg1208Pro)
c.3554G>C (p.Arg1185Pro)
c.3422G>C (p.Arg1141Pro)
c.3290G>C (p.Arg1097Pro)
20g.32436155G=CA2360293560ASXL1c.3443G= (p.Arg1148=)
c.3260G= (p.Arg1087=)
n.5796G=
c.1869+1574G= (n.1869+1574G=)
c.3428G= (p.Arg1143=)
c.3440G= (p.Arg1147=)
c.3413G= (p.Arg1138=)
c.3359G= (p.Arg1120=)
c.2759G= (p.Arg920=)
c.3707G= (p.Arg1236=)
c.3704G= (p.Arg1235=)
c.3623G= (p.Arg1208=)
c.3554G= (p.Arg1185=)
c.3422G= (p.Arg1141=)
c.3290G= (p.Arg1097=)
20g.32436155G>TCA408563072ASXL1c.3443G>T (p.Arg1148Leu)
c.3260G>T (p.Arg1087Leu)
n.5796G>T
c.1869+1574G>T (n.1869+1574G>T)
c.3428G>T (p.Arg1143Leu)
c.3440G>T (p.Arg1147Leu)
c.3413G>T (p.Arg1138Leu)
c.3359G>T (p.Arg1120Leu)
c.2759G>T (p.Arg920Leu)
c.3707G>T (p.Arg1236Leu)
c.3704G>T (p.Arg1235Leu)
c.3623G>T (p.Arg1208Leu)
c.3554G>T (p.Arg1185Leu)
c.3422G>T (p.Arg1141Leu)
c.3290G>T (p.Arg1097Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436155dupCA635268570ASXL1c.3443dup (p.Met1149HisfsTer15)
c.3260dup (p.Met1088HisfsTer15)
n.5796dup
c.1869+1574dup (n.1869+1574dup)
c.3428dup (p.Met1144HisfsTer15)
c.3440dup (p.Met1148HisfsTer15)
c.3413dup (p.Met1139HisfsTer15)
c.3359dup (p.Met1121HisfsTer15)
c.2759dup (p.Met921HisfsTer15)
c.3707dup (p.Met1237HisfsTer15)
c.3704dup (p.Met1236HisfsTer15)
c.3623dup (p.Met1209HisfsTer15)
c.3554dup (p.Met1186HisfsTer15)
c.3422dup (p.Met1142HisfsTer15)
c.3290dup (p.Met1098HisfsTer15)
 dbSNP gnomAD v2 gnomAD v4
20g.32436156C>ACA510467252ASXL1c.3444C>A (p.Arg1148=)
c.3261C>A (p.Arg1087=)
n.5797C>A
c.1869+1575C>A (n.1869+1575C>A)
c.3429C>A (p.Arg1143=)
c.3441C>A (p.Arg1147=)
c.3414C>A (p.Arg1138=)
c.3360C>A (p.Arg1120=)
c.2760C>A (p.Arg920=)
c.3708C>A (p.Arg1236=)
c.3705C>A (p.Arg1235=)
c.3624C>A (p.Arg1208=)
c.3555C>A (p.Arg1185=)
c.3423C>A (p.Arg1141=)
c.3291C>A (p.Arg1097=)
20g.32436156C>GCA510467253ASXL1c.3444C>G (p.Arg1148=)
c.3261C>G (p.Arg1087=)
n.5797C>G
c.1869+1575C>G (n.1869+1575C>G)
c.3429C>G (p.Arg1143=)
c.3441C>G (p.Arg1147=)
c.3414C>G (p.Arg1138=)
c.3360C>G (p.Arg1120=)
c.2760C>G (p.Arg920=)
c.3708C>G (p.Arg1236=)
c.3705C>G (p.Arg1235=)
c.3624C>G (p.Arg1208=)
c.3555C>G (p.Arg1185=)
c.3423C>G (p.Arg1141=)
c.3291C>G (p.Arg1097=)
 dbSNP
20g.32436156C>TCA510467254ASXL1c.3444C>T (p.Arg1148=)
c.3261C>T (p.Arg1087=)
n.5797C>T
c.1869+1575C>T (n.1869+1575C>T)
c.3429C>T (p.Arg1143=)
c.3441C>T (p.Arg1147=)
c.3414C>T (p.Arg1138=)
c.3360C>T (p.Arg1120=)
c.2760C>T (p.Arg920=)
c.3708C>T (p.Arg1236=)
c.3705C>T (p.Arg1235=)
c.3624C>T (p.Arg1208=)
c.3555C>T (p.Arg1185=)
c.3423C>T (p.Arg1141=)
c.3291C>T (p.Arg1097=)
20g.32436157A=CA2360293561ASXL1c.3445A= (p.Met1149=)
c.3262A= (p.Met1088=)
n.5798A=
c.1869+1576A= (n.1869+1576A=)
c.3430A= (p.Met1144=)
c.3442A= (p.Met1148=)
c.3415A= (p.Met1139=)
c.3361A= (p.Met1121=)
c.2761A= (p.Met921=)
c.3709A= (p.Met1237=)
c.3706A= (p.Met1236=)
c.3625A= (p.Met1209=)
c.3556A= (p.Met1186=)
c.3424A= (p.Met1142=)
c.3292A= (p.Met1098=)
20g.32436157A>CCA408563073ASXL1c.3445A>C (p.Met1149Leu)
c.3262A>C (p.Met1088Leu)
n.5798A>C
c.1869+1576A>C (n.1869+1576A>C)
c.3430A>C (p.Met1144Leu)
c.3442A>C (p.Met1148Leu)
c.3415A>C (p.Met1139Leu)
c.3361A>C (p.Met1121Leu)
c.2761A>C (p.Met921Leu)
c.3709A>C (p.Met1237Leu)
c.3706A>C (p.Met1236Leu)
c.3625A>C (p.Met1209Leu)
c.3556A>C (p.Met1186Leu)
c.3424A>C (p.Met1142Leu)
c.3292A>C (p.Met1098Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.32436157A>GCA408563074ASXL1c.3445A>G (p.Met1149Val)
c.3262A>G (p.Met1088Val)
n.5798A>G
c.1869+1576A>G (n.1869+1576A>G)
c.3430A>G (p.Met1144Val)
c.3442A>G (p.Met1148Val)
c.3415A>G (p.Met1139Val)
c.3361A>G (p.Met1121Val)
c.2761A>G (p.Met921Val)
c.3709A>G (p.Met1237Val)
c.3706A>G (p.Met1236Val)
c.3625A>G (p.Met1209Val)
c.3556A>G (p.Met1186Val)
c.3424A>G (p.Met1142Val)
c.3292A>G (p.Met1098Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436157A>TCA408563075ASXL1c.3445A>T (p.Met1149Leu)
c.3262A>T (p.Met1088Leu)
n.5798A>T
c.1869+1576A>T (n.1869+1576A>T)
c.3430A>T (p.Met1144Leu)
c.3442A>T (p.Met1148Leu)
c.3415A>T (p.Met1139Leu)
c.3361A>T (p.Met1121Leu)
c.2761A>T (p.Met921Leu)
c.3709A>T (p.Met1237Leu)
c.3706A>T (p.Met1236Leu)
c.3625A>T (p.Met1209Leu)
c.3556A>T (p.Met1186Leu)
c.3424A>T (p.Met1142Leu)
c.3292A>T (p.Met1098Leu)
20g.32436158T>ACA408563076ASXL1c.3446T>A (p.Met1149Lys)
c.3263T>A (p.Met1088Lys)
n.5799T>A
c.1869+1577T>A (n.1869+1577T>A)
c.3431T>A (p.Met1144Lys)
c.3443T>A (p.Met1148Lys)
c.3416T>A (p.Met1139Lys)
c.3362T>A (p.Met1121Lys)
c.2762T>A (p.Met921Lys)
c.3710T>A (p.Met1237Lys)
c.3707T>A (p.Met1236Lys)
c.3626T>A (p.Met1209Lys)
c.3557T>A (p.Met1186Lys)
c.3425T>A (p.Met1142Lys)
c.3293T>A (p.Met1098Lys)
20g.32436158T>CCA9808826ASXL1c.3446T>C (p.Met1149Thr)
c.3263T>C (p.Met1088Thr)
n.5799T>C
c.1869+1577T>C (n.1869+1577T>C)
c.3431T>C (p.Met1144Thr)
c.3443T>C (p.Met1148Thr)
c.3416T>C (p.Met1139Thr)
c.3362T>C (p.Met1121Thr)
c.2762T>C (p.Met921Thr)
c.3710T>C (p.Met1237Thr)
c.3707T>C (p.Met1236Thr)
c.3626T>C (p.Met1209Thr)
c.3557T>C (p.Met1186Thr)
c.3425T>C (p.Met1142Thr)
c.3293T>C (p.Met1098Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436158T>GCA408563077ASXL1c.3446T>G (p.Met1149Arg)
c.3263T>G (p.Met1088Arg)
n.5799T>G
c.1869+1577T>G (n.1869+1577T>G)
c.3431T>G (p.Met1144Arg)
c.3443T>G (p.Met1148Arg)
c.3416T>G (p.Met1139Arg)
c.3362T>G (p.Met1121Arg)
c.2762T>G (p.Met921Arg)
c.3710T>G (p.Met1237Arg)
c.3707T>G (p.Met1236Arg)
c.3626T>G (p.Met1209Arg)
c.3557T>G (p.Met1186Arg)
c.3425T>G (p.Met1142Arg)
c.3293T>G (p.Met1098Arg)
20g.32436158T=CA2360293562ASXL1c.3446T= (p.Met1149=)
c.3263T= (p.Met1088=)
n.5799T=
c.1869+1577T= (n.1869+1577T=)
c.3431T= (p.Met1144=)
c.3443T= (p.Met1148=)
c.3416T= (p.Met1139=)
c.3362T= (p.Met1121=)
c.2762T= (p.Met921=)
c.3710T= (p.Met1237=)
c.3707T= (p.Met1236=)
c.3626T= (p.Met1209=)
c.3557T= (p.Met1186=)
c.3425T= (p.Met1142=)
c.3293T= (p.Met1098=)
20g.32436159G>ACA408563078ASXL1c.3447G>A (p.Met1149Ile)
c.3264G>A (p.Met1088Ile)
n.5800G>A
c.1869+1578G>A (n.1869+1578G>A)
c.3432G>A (p.Met1144Ile)
c.3444G>A (p.Met1148Ile)
c.3417G>A (p.Met1139Ile)
c.3363G>A (p.Met1121Ile)
c.2763G>A (p.Met921Ile)
c.3711G>A (p.Met1237Ile)
c.3708G>A (p.Met1236Ile)
c.3627G>A (p.Met1209Ile)
c.3558G>A (p.Met1186Ile)
c.3426G>A (p.Met1142Ile)
c.3294G>A (p.Met1098Ile)
20g.32436159G>CCA408563079ASXL1c.3447G>C (p.Met1149Ile)
c.3264G>C (p.Met1088Ile)
n.5800G>C
c.1869+1578G>C (n.1869+1578G>C)
c.3432G>C (p.Met1144Ile)
c.3444G>C (p.Met1148Ile)
c.3417G>C (p.Met1139Ile)
c.3363G>C (p.Met1121Ile)
c.2763G>C (p.Met921Ile)
c.3711G>C (p.Met1237Ile)
c.3708G>C (p.Met1236Ile)
c.3627G>C (p.Met1209Ile)
c.3558G>C (p.Met1186Ile)
c.3426G>C (p.Met1142Ile)
c.3294G>C (p.Met1098Ile)
20g.32436159G=CA2360293563ASXL1c.3447G= (p.Met1149=)
c.3264G= (p.Met1088=)
n.5800G=
c.1869+1578G= (n.1869+1578G=)
c.3432G= (p.Met1144=)
c.3444G= (p.Met1148=)
c.3417G= (p.Met1139=)
c.3363G= (p.Met1121=)
c.2763G= (p.Met921=)
c.3711G= (p.Met1237=)
c.3708G= (p.Met1236=)
c.3627G= (p.Met1209=)
c.3558G= (p.Met1186=)
c.3426G= (p.Met1142=)
c.3294G= (p.Met1098=)
20g.32436159G>TCA9808827ASXL1c.3447G>T (p.Met1149Ile)
c.3264G>T (p.Met1088Ile)
n.5800G>T
c.1869+1578G>T (n.1869+1578G>T)
c.3432G>T (p.Met1144Ile)
c.3444G>T (p.Met1148Ile)
c.3417G>T (p.Met1139Ile)
c.3363G>T (p.Met1121Ile)
c.2763G>T (p.Met921Ile)
c.3711G>T (p.Met1237Ile)
c.3708G>T (p.Met1236Ile)
c.3627G>T (p.Met1209Ile)
c.3558G>T (p.Met1186Ile)
c.3426G>T (p.Met1142Ile)
c.3294G>T (p.Met1098Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436160G>ACA408563080ASXL1c.3448G>A (p.Gly1150Arg)
c.3265G>A (p.Gly1089Arg)
n.5801G>A
c.1869+1579G>A (n.1869+1579G>A)
c.3433G>A (p.Gly1145Arg)
c.3445G>A (p.Gly1149Arg)
c.3418G>A (p.Gly1140Arg)
c.3364G>A (p.Gly1122Arg)
c.2764G>A (p.Gly922Arg)
c.3712G>A (p.Gly1238Arg)
c.3709G>A (p.Gly1237Arg)
c.3628G>A (p.Gly1210Arg)
c.3559G>A (p.Gly1187Arg)
c.3427G>A (p.Gly1143Arg)
c.3295G>A (p.Gly1099Arg)
20g.32436160G>CCA9808828ASXL1c.3448G>C (p.Gly1150Arg)
c.3265G>C (p.Gly1089Arg)
n.5801G>C
c.1869+1579G>C (n.1869+1579G>C)
c.3433G>C (p.Gly1145Arg)
c.3445G>C (p.Gly1149Arg)
c.3418G>C (p.Gly1140Arg)
c.3364G>C (p.Gly1122Arg)
c.2764G>C (p.Gly922Arg)
c.3712G>C (p.Gly1238Arg)
c.3709G>C (p.Gly1237Arg)
c.3628G>C (p.Gly1210Arg)
c.3559G>C (p.Gly1187Arg)
c.3427G>C (p.Gly1143Arg)
c.3295G>C (p.Gly1099Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436160G=CA2360293564ASXL1c.3448G= (p.Gly1150=)
c.3265G= (p.Gly1089=)
n.5801G=
c.1869+1579G= (n.1869+1579G=)
c.3433G= (p.Gly1145=)
c.3445G= (p.Gly1149=)
c.3418G= (p.Gly1140=)
c.3364G= (p.Gly1122=)
c.2764G= (p.Gly922=)
c.3712G= (p.Gly1238=)
c.3709G= (p.Gly1237=)
c.3628G= (p.Gly1210=)
c.3559G= (p.Gly1187=)
c.3427G= (p.Gly1143=)
c.3295G= (p.Gly1099=)
20g.32436160G>TCA408563081ASXL1c.3448G>T (p.Gly1150Ter)
c.3265G>T (p.Gly1089Ter)
n.5801G>T
c.1869+1579G>T (n.1869+1579G>T)
c.3433G>T (p.Gly1145Ter)
c.3445G>T (p.Gly1149Ter)
c.3418G>T (p.Gly1140Ter)
c.3364G>T (p.Gly1122Ter)
c.2764G>T (p.Gly922Ter)
c.3712G>T (p.Gly1238Ter)
c.3709G>T (p.Gly1237Ter)
c.3628G>T (p.Gly1210Ter)
c.3559G>T (p.Gly1187Ter)
c.3427G>T (p.Gly1143Ter)
c.3295G>T (p.Gly1099Ter)
20g.32436161G>ACA408563082ASXL1c.3449G>A (p.Gly1150Glu)
c.3266G>A (p.Gly1089Glu)
n.5802G>A
c.1869+1580G>A (n.1869+1580G>A)
c.3434G>A (p.Gly1145Glu)
c.3446G>A (p.Gly1149Glu)
c.3419G>A (p.Gly1140Glu)
c.3365G>A (p.Gly1122Glu)
c.2765G>A (p.Gly922Glu)
c.3713G>A (p.Gly1238Glu)
c.3710G>A (p.Gly1237Glu)
c.3629G>A (p.Gly1210Glu)
c.3560G>A (p.Gly1187Glu)
c.3428G>A (p.Gly1143Glu)
c.3296G>A (p.Gly1099Glu)
 dbSNP gnomAD v4
20g.32436161G>CCA408563083ASXL1c.3449G>C (p.Gly1150Ala)
c.3266G>C (p.Gly1089Ala)
n.5802G>C
c.1869+1580G>C (n.1869+1580G>C)
c.3434G>C (p.Gly1145Ala)
c.3446G>C (p.Gly1149Ala)
c.3419G>C (p.Gly1140Ala)
c.3365G>C (p.Gly1122Ala)
c.2765G>C (p.Gly922Ala)
c.3713G>C (p.Gly1238Ala)
c.3710G>C (p.Gly1237Ala)
c.3629G>C (p.Gly1210Ala)
c.3560G>C (p.Gly1187Ala)
c.3428G>C (p.Gly1143Ala)
c.3296G>C (p.Gly1099Ala)
 dbSNP
20g.32436161G=CA2360293565ASXL1c.3449G= (p.Gly1150=)
c.3266G= (p.Gly1089=)
n.5802G=
c.1869+1580G= (n.1869+1580G=)
c.3434G= (p.Gly1145=)
c.3446G= (p.Gly1149=)
c.3419G= (p.Gly1140=)
c.3365G= (p.Gly1122=)
c.2765G= (p.Gly922=)
c.3713G= (p.Gly1238=)
c.3710G= (p.Gly1237=)
c.3629G= (p.Gly1210=)
c.3560G= (p.Gly1187=)
c.3428G= (p.Gly1143=)
c.3296G= (p.Gly1099=)
20g.32436161G>TCA9808829ASXL1c.3449G>T (p.Gly1150Val)
c.3266G>T (p.Gly1089Val)
n.5802G>T
c.1869+1580G>T (n.1869+1580G>T)
c.3434G>T (p.Gly1145Val)
c.3446G>T (p.Gly1149Val)
c.3419G>T (p.Gly1140Val)
c.3365G>T (p.Gly1122Val)
c.2765G>T (p.Gly922Val)
c.3713G>T (p.Gly1238Val)
c.3710G>T (p.Gly1237Val)
c.3629G>T (p.Gly1210Val)
c.3560G>T (p.Gly1187Val)
c.3428G>T (p.Gly1143Val)
c.3296G>T (p.Gly1099Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436162A>CCA510467255ASXL1c.3450A>C (p.Gly1150=)
c.3267A>C (p.Gly1089=)
n.5803A>C
c.1869+1581A>C (n.1869+1581A>C)
c.3435A>C (p.Gly1145=)
c.3447A>C (p.Gly1149=)
c.3420A>C (p.Gly1140=)
c.3366A>C (p.Gly1122=)
c.2766A>C (p.Gly922=)
c.3714A>C (p.Gly1238=)
c.3711A>C (p.Gly1237=)
c.3630A>C (p.Gly1210=)
c.3561A>C (p.Gly1187=)
c.3429A>C (p.Gly1143=)
c.3297A>C (p.Gly1099=)
20g.32436162A>GCA510467256ASXL1c.3450A>G (p.Gly1150=)
c.3267A>G (p.Gly1089=)
n.5803A>G
c.1869+1581A>G (n.1869+1581A>G)
c.3435A>G (p.Gly1145=)
c.3447A>G (p.Gly1149=)
c.3420A>G (p.Gly1140=)
c.3366A>G (p.Gly1122=)
c.2766A>G (p.Gly922=)
c.3714A>G (p.Gly1238=)
c.3711A>G (p.Gly1237=)
c.3630A>G (p.Gly1210=)
c.3561A>G (p.Gly1187=)
c.3429A>G (p.Gly1143=)
c.3297A>G (p.Gly1099=)
20g.32436162A>TCA510467257ASXL1c.3450A>T (p.Gly1150=)
c.3267A>T (p.Gly1089=)
n.5803A>T
c.1869+1581A>T (n.1869+1581A>T)
c.3435A>T (p.Gly1145=)
c.3447A>T (p.Gly1149=)
c.3420A>T (p.Gly1140=)
c.3366A>T (p.Gly1122=)
c.2766A>T (p.Gly922=)
c.3714A>T (p.Gly1238=)
c.3711A>T (p.Gly1237=)
c.3630A>T (p.Gly1210=)
c.3561A>T (p.Gly1187=)
c.3429A>T (p.Gly1143=)
c.3297A>T (p.Gly1099=)
 ClinVar
20g.32436163T>ACA408563084ASXL1c.3451T>A (p.Ser1151Thr)
c.3268T>A (p.Ser1090Thr)
n.5804T>A
c.1869+1582T>A (n.1869+1582T>A)
c.3436T>A (p.Ser1146Thr)
c.3448T>A (p.Ser1150Thr)
c.3421T>A (p.Ser1141Thr)
c.3367T>A (p.Ser1123Thr)
c.2767T>A (p.Ser923Thr)
c.3715T>A (p.Ser1239Thr)
c.3712T>A (p.Ser1238Thr)
c.3631T>A (p.Ser1211Thr)
c.3562T>A (p.Ser1188Thr)
c.3430T>A (p.Ser1144Thr)
c.3298T>A (p.Ser1100Thr)
 ClinVar
20g.32436163T>CCA408563085ASXL1c.3451T>C (p.Ser1151Pro)
c.3268T>C (p.Ser1090Pro)
n.5804T>C
c.1869+1582T>C (n.1869+1582T>C)
c.3436T>C (p.Ser1146Pro)
c.3448T>C (p.Ser1150Pro)
c.3421T>C (p.Ser1141Pro)
c.3367T>C (p.Ser1123Pro)
c.2767T>C (p.Ser923Pro)
c.3715T>C (p.Ser1239Pro)
c.3712T>C (p.Ser1238Pro)
c.3631T>C (p.Ser1211Pro)
c.3562T>C (p.Ser1188Pro)
c.3430T>C (p.Ser1144Pro)
c.3298T>C (p.Ser1100Pro)
20g.32436163T>GCA408563086ASXL1c.3451T>G (p.Ser1151Ala)
c.3268T>G (p.Ser1090Ala)
n.5804T>G
c.1869+1582T>G (n.1869+1582T>G)
c.3436T>G (p.Ser1146Ala)
c.3448T>G (p.Ser1150Ala)
c.3421T>G (p.Ser1141Ala)
c.3367T>G (p.Ser1123Ala)
c.2767T>G (p.Ser923Ala)
c.3715T>G (p.Ser1239Ala)
c.3712T>G (p.Ser1238Ala)
c.3631T>G (p.Ser1211Ala)
c.3562T>G (p.Ser1188Ala)
c.3430T>G (p.Ser1144Ala)
c.3298T>G (p.Ser1100Ala)
20g.32436164C>ACA408563089ASXL1c.3452C>A (p.Ser1151Tyr)
c.3269C>A (p.Ser1090Tyr)
n.5805C>A
c.1869+1583C>A (n.1869+1583C>A)
c.3437C>A (p.Ser1146Tyr)
c.3449C>A (p.Ser1150Tyr)
c.3422C>A (p.Ser1141Tyr)
c.3368C>A (p.Ser1123Tyr)
c.2768C>A (p.Ser923Tyr)
c.3716C>A (p.Ser1239Tyr)
c.3713C>A (p.Ser1238Tyr)
c.3632C>A (p.Ser1211Tyr)
c.3563C>A (p.Ser1188Tyr)
c.3431C>A (p.Ser1144Tyr)
c.3299C>A (p.Ser1100Tyr)
20g.32436164C=CA2360293566ASXL1c.3452C= (p.Ser1151=)
c.3269C= (p.Ser1090=)
n.5805C=
c.1869+1583C= (n.1869+1583C=)
c.3437C= (p.Ser1146=)
c.3449C= (p.Ser1150=)
c.3422C= (p.Ser1141=)
c.3368C= (p.Ser1123=)
c.2768C= (p.Ser923=)
c.3716C= (p.Ser1239=)
c.3713C= (p.Ser1238=)
c.3632C= (p.Ser1211=)
c.3563C= (p.Ser1188=)
c.3431C= (p.Ser1144=)
c.3299C= (p.Ser1100=)
20g.32436164C>GCA408563087ASXL1c.3452C>G (p.Ser1151Cys)
c.3269C>G (p.Ser1090Cys)
n.5805C>G
c.1869+1583C>G (n.1869+1583C>G)
c.3437C>G (p.Ser1146Cys)
c.3449C>G (p.Ser1150Cys)
c.3422C>G (p.Ser1141Cys)
c.3368C>G (p.Ser1123Cys)
c.2768C>G (p.Ser923Cys)
c.3716C>G (p.Ser1239Cys)
c.3713C>G (p.Ser1238Cys)
c.3632C>G (p.Ser1211Cys)
c.3563C>G (p.Ser1188Cys)
c.3431C>G (p.Ser1144Cys)
c.3299C>G (p.Ser1100Cys)
 ClinVar dbSNP
20g.32436164C>TCA408563088ASXL1c.3452C>T (p.Ser1151Phe)
c.3269C>T (p.Ser1090Phe)
n.5805C>T
c.1869+1583C>T (n.1869+1583C>T)
c.3437C>T (p.Ser1146Phe)
c.3449C>T (p.Ser1150Phe)
c.3422C>T (p.Ser1141Phe)
c.3368C>T (p.Ser1123Phe)
c.2768C>T (p.Ser923Phe)
c.3716C>T (p.Ser1239Phe)
c.3713C>T (p.Ser1238Phe)
c.3632C>T (p.Ser1211Phe)
c.3563C>T (p.Ser1188Phe)
c.3431C>T (p.Ser1144Phe)
c.3299C>T (p.Ser1100Phe)
20g.32436165T>ACA510467258ASXL1c.3453T>A (p.Ser1151=)
c.3270T>A (p.Ser1090=)
n.5806T>A
c.1869+1584T>A (n.1869+1584T>A)
c.3438T>A (p.Ser1146=)
c.3450T>A (p.Ser1150=)
c.3423T>A (p.Ser1141=)
c.3369T>A (p.Ser1123=)
c.2769T>A (p.Ser923=)
c.3717T>A (p.Ser1239=)
c.3714T>A (p.Ser1238=)
c.3633T>A (p.Ser1211=)
c.3564T>A (p.Ser1188=)
c.3432T>A (p.Ser1144=)
c.3300T>A (p.Ser1100=)
20g.32436165T>CCA510467259ASXL1c.3453T>C (p.Ser1151=)
c.3270T>C (p.Ser1090=)
n.5806T>C
c.1869+1584T>C (n.1869+1584T>C)
c.3438T>C (p.Ser1146=)
c.3450T>C (p.Ser1150=)
c.3423T>C (p.Ser1141=)
c.3369T>C (p.Ser1123=)
c.2769T>C (p.Ser923=)
c.3717T>C (p.Ser1239=)
c.3714T>C (p.Ser1238=)
c.3633T>C (p.Ser1211=)
c.3564T>C (p.Ser1188=)
c.3432T>C (p.Ser1144=)
c.3300T>C (p.Ser1100=)
 gnomAD v4
20g.32436165T>GCA510467260ASXL1c.3453T>G (p.Ser1151=)
c.3270T>G (p.Ser1090=)
n.5806T>G
c.1869+1584T>G (n.1869+1584T>G)
c.3438T>G (p.Ser1146=)
c.3450T>G (p.Ser1150=)
c.3423T>G (p.Ser1141=)
c.3369T>G (p.Ser1123=)
c.2769T>G (p.Ser923=)
c.3717T>G (p.Ser1239=)
c.3714T>G (p.Ser1238=)
c.3633T>G (p.Ser1211=)
c.3564T>G (p.Ser1188=)
c.3432T>G (p.Ser1144=)
c.3300T>G (p.Ser1100=)
20g.32436166T>ACA408563090ASXL1c.3454T>A (p.Leu1152Ile)
c.3271T>A (p.Leu1091Ile)
n.5807T>A
c.1869+1585T>A (n.1869+1585T>A)
c.3439T>A (p.Leu1147Ile)
c.3451T>A (p.Leu1151Ile)
c.3424T>A (p.Leu1142Ile)
c.3370T>A (p.Leu1124Ile)
c.2770T>A (p.Leu924Ile)
c.3718T>A (p.Leu1240Ile)
c.3715T>A (p.Leu1239Ile)
c.3634T>A (p.Leu1212Ile)
c.3565T>A (p.Leu1189Ile)
c.3433T>A (p.Leu1145Ile)
c.3301T>A (p.Leu1101Ile)
20g.32436166T>CCA510467261ASXL1c.3454T>C (p.Leu1152=)
c.3271T>C (p.Leu1091=)
n.5807T>C
c.1869+1585T>C (n.1869+1585T>C)
c.3439T>C (p.Leu1147=)
c.3451T>C (p.Leu1151=)
c.3424T>C (p.Leu1142=)
c.3370T>C (p.Leu1124=)
c.2770T>C (p.Leu924=)
c.3718T>C (p.Leu1240=)
c.3715T>C (p.Leu1239=)
c.3634T>C (p.Leu1212=)
c.3565T>C (p.Leu1189=)
c.3433T>C (p.Leu1145=)
c.3301T>C (p.Leu1101=)
20g.32436166T>GCA408563091ASXL1c.3454T>G (p.Leu1152Val)
c.3271T>G (p.Leu1091Val)
n.5807T>G
c.1869+1585T>G (n.1869+1585T>G)
c.3439T>G (p.Leu1147Val)
c.3451T>G (p.Leu1151Val)
c.3424T>G (p.Leu1142Val)
c.3370T>G (p.Leu1124Val)
c.2770T>G (p.Leu924Val)
c.3718T>G (p.Leu1240Val)
c.3715T>G (p.Leu1239Val)
c.3634T>G (p.Leu1212Val)
c.3565T>G (p.Leu1189Val)
c.3433T>G (p.Leu1145Val)
c.3301T>G (p.Leu1101Val)
20g.32436167T>ACA408563092ASXL1c.3455T>A (p.Leu1152Ter)
c.3272T>A (p.Leu1091Ter)
n.5808T>A
c.1869+1586T>A (n.1869+1586T>A)
c.3440T>A (p.Leu1147Ter)
c.3452T>A (p.Leu1151Ter)
c.3425T>A (p.Leu1142Ter)
c.3371T>A (p.Leu1124Ter)
c.2771T>A (p.Leu924Ter)
c.3719T>A (p.Leu1240Ter)
c.3716T>A (p.Leu1239Ter)
c.3635T>A (p.Leu1212Ter)
c.3566T>A (p.Leu1189Ter)
c.3434T>A (p.Leu1145Ter)
c.3302T>A (p.Leu1101Ter)
20g.32436167T>CCA408563093ASXL1c.3455T>C (p.Leu1152Ser)
c.3272T>C (p.Leu1091Ser)
n.5808T>C
c.1869+1586T>C (n.1869+1586T>C)
c.3440T>C (p.Leu1147Ser)
c.3452T>C (p.Leu1151Ser)
c.3425T>C (p.Leu1142Ser)
c.3371T>C (p.Leu1124Ser)
c.2771T>C (p.Leu924Ser)
c.3719T>C (p.Leu1240Ser)
c.3716T>C (p.Leu1239Ser)
c.3635T>C (p.Leu1212Ser)
c.3566T>C (p.Leu1189Ser)
c.3434T>C (p.Leu1145Ser)
c.3302T>C (p.Leu1101Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32436167T>GCA408563094ASXL1c.3455T>G (p.Leu1152Ter)
c.3272T>G (p.Leu1091Ter)
n.5808T>G
c.1869+1586T>G (n.1869+1586T>G)
c.3440T>G (p.Leu1147Ter)
c.3452T>G (p.Leu1151Ter)
c.3425T>G (p.Leu1142Ter)
c.3371T>G (p.Leu1124Ter)
c.2771T>G (p.Leu924Ter)
c.3719T>G (p.Leu1240Ter)
c.3716T>G (p.Leu1239Ter)
c.3635T>G (p.Leu1212Ter)
c.3566T>G (p.Leu1189Ter)
c.3434T>G (p.Leu1145Ter)
c.3302T>G (p.Leu1101Ter)
20g.32436167T=CA2360293567ASXL1c.3455T= (p.Leu1152=)
c.3272T= (p.Leu1091=)
n.5808T=
c.1869+1586T= (n.1869+1586T=)
c.3440T= (p.Leu1147=)
c.3452T= (p.Leu1151=)
c.3425T= (p.Leu1142=)
c.3371T= (p.Leu1124=)
c.2771T= (p.Leu924=)
c.3719T= (p.Leu1240=)
c.3716T= (p.Leu1239=)
c.3635T= (p.Leu1212=)
c.3566T= (p.Leu1189=)
c.3434T= (p.Leu1145=)
c.3302T= (p.Leu1101=)
20g.32436168A>CCA408563095ASXL1c.3456A>C (p.Leu1152Phe)
c.3273A>C (p.Leu1091Phe)
n.5809A>C
c.1869+1587A>C (n.1869+1587A>C)
c.3441A>C (p.Leu1147Phe)
c.3453A>C (p.Leu1151Phe)
c.3426A>C (p.Leu1142Phe)
c.3372A>C (p.Leu1124Phe)
c.2772A>C (p.Leu924Phe)
c.3720A>C (p.Leu1240Phe)
c.3717A>C (p.Leu1239Phe)
c.3636A>C (p.Leu1212Phe)
c.3567A>C (p.Leu1189Phe)
c.3435A>C (p.Leu1145Phe)
c.3303A>C (p.Leu1101Phe)
20g.32436168A>GCA510467262ASXL1c.3456A>G (p.Leu1152=)
c.3273A>G (p.Leu1091=)
n.5809A>G
c.1869+1587A>G (n.1869+1587A>G)
c.3441A>G (p.Leu1147=)
c.3453A>G (p.Leu1151=)
c.3426A>G (p.Leu1142=)
c.3372A>G (p.Leu1124=)
c.2772A>G (p.Leu924=)
c.3720A>G (p.Leu1240=)
c.3717A>G (p.Leu1239=)
c.3636A>G (p.Leu1212=)
c.3567A>G (p.Leu1189=)
c.3435A>G (p.Leu1145=)
c.3303A>G (p.Leu1101=)
20g.32436168A>TCA408563096ASXL1c.3456A>T (p.Leu1152Phe)
c.3273A>T (p.Leu1091Phe)
n.5809A>T
c.1869+1587A>T (n.1869+1587A>T)
c.3441A>T (p.Leu1147Phe)
c.3453A>T (p.Leu1151Phe)
c.3426A>T (p.Leu1142Phe)
c.3372A>T (p.Leu1124Phe)
c.2772A>T (p.Leu924Phe)
c.3720A>T (p.Leu1240Phe)
c.3717A>T (p.Leu1239Phe)
c.3636A>T (p.Leu1212Phe)
c.3567A>T (p.Leu1189Phe)
c.3435A>T (p.Leu1145Phe)
c.3303A>T (p.Leu1101Phe)
20g.32436169C>ACA408563097ASXL1c.3457C>A (p.His1153Asn)
c.3274C>A (p.His1092Asn)
n.5810C>A
c.1869+1588C>A (n.1869+1588C>A)
c.3442C>A (p.His1148Asn)
c.3454C>A (p.His1152Asn)
c.3427C>A (p.His1143Asn)
c.3373C>A (p.His1125Asn)
c.2773C>A (p.His925Asn)
c.3721C>A (p.His1241Asn)
c.3718C>A (p.His1240Asn)
c.3637C>A (p.His1213Asn)
c.3568C>A (p.His1190Asn)
c.3436C>A (p.His1146Asn)
c.3304C>A (p.His1102Asn)
20g.32436169C>GCA408563098ASXL1c.3457C>G (p.His1153Asp)
c.3274C>G (p.His1092Asp)
n.5810C>G
c.1869+1588C>G (n.1869+1588C>G)
c.3442C>G (p.His1148Asp)
c.3454C>G (p.His1152Asp)
c.3427C>G (p.His1143Asp)
c.3373C>G (p.His1125Asp)
c.2773C>G (p.His925Asp)
c.3721C>G (p.His1241Asp)
c.3718C>G (p.His1240Asp)
c.3637C>G (p.His1213Asp)
c.3568C>G (p.His1190Asp)
c.3436C>G (p.His1146Asp)
c.3304C>G (p.His1102Asp)
20g.32436169C>TCA408563099ASXL1c.3457C>T (p.His1153Tyr)
c.3274C>T (p.His1092Tyr)
n.5810C>T
c.1869+1588C>T (n.1869+1588C>T)
c.3442C>T (p.His1148Tyr)
c.3454C>T (p.His1152Tyr)
c.3427C>T (p.His1143Tyr)
c.3373C>T (p.His1125Tyr)
c.2773C>T (p.His925Tyr)
c.3721C>T (p.His1241Tyr)
c.3718C>T (p.His1240Tyr)
c.3637C>T (p.His1213Tyr)
c.3568C>T (p.His1190Tyr)
c.3436C>T (p.His1146Tyr)
c.3304C>T (p.His1102Tyr)
20g.32436170delCA645612964ASXL1c.3458del (p.His1153LeufsTer18)
c.3275del (p.His1092LeufsTer18)
n.5811del
c.1869+1589del (n.1869+1589del)
c.3443del (p.His1148LeufsTer18)
c.3455del (p.His1152LeufsTer18)
c.3428del (p.His1143LeufsTer18)
c.3374del (p.His1125LeufsTer18)
c.2774del (p.His925LeufsTer18)
c.3722del (p.His1241LeufsTer18)
c.3719del (p.His1240LeufsTer18)
c.3638del (p.His1213LeufsTer18)
c.3569del (p.His1190LeufsTer18)
c.3437del (p.His1146LeufsTer18)
c.3305del (p.His1102LeufsTer18)
 COSMIC
20g.32436170A=CA2360293568ASXL1c.3458A= (p.His1153=)
c.3275A= (p.His1092=)
n.5811A=
c.1869+1589A= (n.1869+1589A=)
c.3443A= (p.His1148=)
c.3455A= (p.His1152=)
c.3428A= (p.His1143=)
c.3374A= (p.His1125=)
c.2774A= (p.His925=)
c.3722A= (p.His1241=)
c.3719A= (p.His1240=)
c.3638A= (p.His1213=)
c.3569A= (p.His1190=)
c.3437A= (p.His1146=)
c.3305A= (p.His1102=)
20g.32436170A>CCA408563100ASXL1c.3458A>C (p.His1153Pro)
c.3275A>C (p.His1092Pro)
n.5811A>C
c.1869+1589A>C (n.1869+1589A>C)
c.3443A>C (p.His1148Pro)
c.3455A>C (p.His1152Pro)
c.3428A>C (p.His1143Pro)
c.3374A>C (p.His1125Pro)
c.2774A>C (p.His925Pro)
c.3722A>C (p.His1241Pro)
c.3719A>C (p.His1240Pro)
c.3638A>C (p.His1213Pro)
c.3569A>C (p.His1190Pro)
c.3437A>C (p.His1146Pro)
c.3305A>C (p.His1102Pro)
20g.32436170A>GCA9808830ASXL1c.3458A>G (p.His1153Arg)
c.3275A>G (p.His1092Arg)
n.5811A>G
c.1869+1589A>G (n.1869+1589A>G)
c.3443A>G (p.His1148Arg)
c.3455A>G (p.His1152Arg)
c.3428A>G (p.His1143Arg)
c.3374A>G (p.His1125Arg)
c.2774A>G (p.His925Arg)
c.3722A>G (p.His1241Arg)
c.3719A>G (p.His1240Arg)
c.3638A>G (p.His1213Arg)
c.3569A>G (p.His1190Arg)
c.3437A>G (p.His1146Arg)
c.3305A>G (p.His1102Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436170A>TCA408563101ASXL1c.3458A>T (p.His1153Leu)
c.3275A>T (p.His1092Leu)
n.5811A>T
c.1869+1589A>T (n.1869+1589A>T)
c.3443A>T (p.His1148Leu)
c.3455A>T (p.His1152Leu)
c.3428A>T (p.His1143Leu)
c.3374A>T (p.His1125Leu)
c.2774A>T (p.His925Leu)
c.3722A>T (p.His1241Leu)
c.3719A>T (p.His1240Leu)
c.3638A>T (p.His1213Leu)
c.3569A>T (p.His1190Leu)
c.3437A>T (p.His1146Leu)
c.3305A>T (p.His1102Leu)
 gnomAD v4
20g.32436171T>ACA408563103ASXL1c.3459T>A (p.His1153Gln)
c.3276T>A (p.His1092Gln)
n.5812T>A
c.1869+1590T>A (n.1869+1590T>A)
c.3444T>A (p.His1148Gln)
c.3456T>A (p.His1152Gln)
c.3429T>A (p.His1143Gln)
c.3375T>A (p.His1125Gln)
c.2775T>A (p.His925Gln)
c.3723T>A (p.His1241Gln)
c.3720T>A (p.His1240Gln)
c.3639T>A (p.His1213Gln)
c.3570T>A (p.His1190Gln)
c.3438T>A (p.His1146Gln)
c.3306T>A (p.His1102Gln)
20g.32436171T>CCA510467263ASXL1c.3459T>C (p.His1153=)
c.3276T>C (p.His1092=)
n.5812T>C
c.1869+1590T>C (n.1869+1590T>C)
c.3444T>C (p.His1148=)
c.3456T>C (p.His1152=)
c.3429T>C (p.His1143=)
c.3375T>C (p.His1125=)
c.2775T>C (p.His925=)
c.3723T>C (p.His1241=)
c.3720T>C (p.His1240=)
c.3639T>C (p.His1213=)
c.3570T>C (p.His1190=)
c.3438T>C (p.His1146=)
c.3306T>C (p.His1102=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436171T>GCA408563102ASXL1c.3459T>G (p.His1153Gln)
c.3276T>G (p.His1092Gln)
n.5812T>G
c.1869+1590T>G (n.1869+1590T>G)
c.3444T>G (p.His1148Gln)
c.3456T>G (p.His1152Gln)
c.3429T>G (p.His1143Gln)
c.3375T>G (p.His1125Gln)
c.2775T>G (p.His925Gln)
c.3723T>G (p.His1241Gln)
c.3720T>G (p.His1240Gln)
c.3639T>G (p.His1213Gln)
c.3570T>G (p.His1190Gln)
c.3438T>G (p.His1146Gln)
c.3306T>G (p.His1102Gln)
20g.32436171T=CA2360293569ASXL1c.3459T= (p.His1153=)
c.3276T= (p.His1092=)
n.5812T=
c.1869+1590T= (n.1869+1590T=)
c.3444T= (p.His1148=)
c.3456T= (p.His1152=)
c.3429T= (p.His1143=)
c.3375T= (p.His1125=)
c.2775T= (p.His925=)
c.3723T= (p.His1241=)
c.3720T= (p.His1240=)
c.3639T= (p.His1213=)
c.3570T= (p.His1190=)
c.3438T= (p.His1146=)
c.3306T= (p.His1102=)
20g.32436172G>ACA408563104ASXL1c.3460G>A (p.Gly1154Ser)
c.3277G>A (p.Gly1093Ser)
n.5813G>A
c.1869+1591G>A (n.1869+1591G>A)
c.3445G>A (p.Gly1149Ser)
c.3457G>A (p.Gly1153Ser)
c.3430G>A (p.Gly1144Ser)
c.3376G>A (p.Gly1126Ser)
c.2776G>A (p.Gly926Ser)
c.3724G>A (p.Gly1242Ser)
c.3721G>A (p.Gly1241Ser)
c.3640G>A (p.Gly1214Ser)
c.3571G>A (p.Gly1191Ser)
c.3439G>A (p.Gly1147Ser)
c.3307G>A (p.Gly1103Ser)
 ClinVar dbSNP gnomAD v4
20g.32436172G>CCA9808831ASXL1c.3460G>C (p.Gly1154Arg)
c.3277G>C (p.Gly1093Arg)
n.5813G>C
c.1869+1591G>C (n.1869+1591G>C)
c.3445G>C (p.Gly1149Arg)
c.3457G>C (p.Gly1153Arg)
c.3430G>C (p.Gly1144Arg)
c.3376G>C (p.Gly1126Arg)
c.2776G>C (p.Gly926Arg)
c.3724G>C (p.Gly1242Arg)
c.3721G>C (p.Gly1241Arg)
c.3640G>C (p.Gly1214Arg)
c.3571G>C (p.Gly1191Arg)
c.3439G>C (p.Gly1147Arg)
c.3307G>C (p.Gly1103Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436172G=CA2360293570ASXL1c.3460G= (p.Gly1154=)
c.3277G= (p.Gly1093=)
n.5813G=
c.1869+1591G= (n.1869+1591G=)
c.3445G= (p.Gly1149=)
c.3457G= (p.Gly1153=)
c.3430G= (p.Gly1144=)
c.3376G= (p.Gly1126=)
c.2776G= (p.Gly926=)
c.3724G= (p.Gly1242=)
c.3721G= (p.Gly1241=)
c.3640G= (p.Gly1214=)
c.3571G= (p.Gly1191=)
c.3439G= (p.Gly1147=)
c.3307G= (p.Gly1103=)
20g.32436172G>TCA408563105ASXL1c.3460G>T (p.Gly1154Cys)
c.3277G>T (p.Gly1093Cys)
n.5813G>T
c.1869+1591G>T (n.1869+1591G>T)
c.3445G>T (p.Gly1149Cys)
c.3457G>T (p.Gly1153Cys)
c.3430G>T (p.Gly1144Cys)
c.3376G>T (p.Gly1126Cys)
c.2776G>T (p.Gly926Cys)
c.3724G>T (p.Gly1242Cys)
c.3721G>T (p.Gly1241Cys)
c.3640G>T (p.Gly1214Cys)
c.3571G>T (p.Gly1191Cys)
c.3439G>T (p.Gly1147Cys)
c.3307G>T (p.Gly1103Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436173G>ACA408563106ASXL1c.3461G>A (p.Gly1154Asp)
c.3278G>A (p.Gly1093Asp)
n.5814G>A
c.1869+1592G>A (n.1869+1592G>A)
c.3446G>A (p.Gly1149Asp)
c.3458G>A (p.Gly1153Asp)
c.3431G>A (p.Gly1144Asp)
c.3377G>A (p.Gly1126Asp)
c.2777G>A (p.Gly926Asp)
c.3725G>A (p.Gly1242Asp)
c.3722G>A (p.Gly1241Asp)
c.3641G>A (p.Gly1214Asp)
c.3572G>A (p.Gly1191Asp)
c.3440G>A (p.Gly1147Asp)
c.3308G>A (p.Gly1103Asp)
20g.32436173G>CCA408563107ASXL1c.3461G>C (p.Gly1154Ala)
c.3278G>C (p.Gly1093Ala)
n.5814G>C
c.1869+1592G>C (n.1869+1592G>C)
c.3446G>C (p.Gly1149Ala)
c.3458G>C (p.Gly1153Ala)
c.3431G>C (p.Gly1144Ala)
c.3377G>C (p.Gly1126Ala)
c.2777G>C (p.Gly926Ala)
c.3725G>C (p.Gly1242Ala)
c.3722G>C (p.Gly1241Ala)
c.3641G>C (p.Gly1214Ala)
c.3572G>C (p.Gly1191Ala)
c.3440G>C (p.Gly1147Ala)
c.3308G>C (p.Gly1103Ala)
20g.32436173G>TCA408563108ASXL1c.3461G>T (p.Gly1154Val)
c.3278G>T (p.Gly1093Val)
n.5814G>T
c.1869+1592G>T (n.1869+1592G>T)
c.3446G>T (p.Gly1149Val)
c.3458G>T (p.Gly1153Val)
c.3431G>T (p.Gly1144Val)
c.3377G>T (p.Gly1126Val)
c.2777G>T (p.Gly926Val)
c.3725G>T (p.Gly1242Val)
c.3722G>T (p.Gly1241Val)
c.3641G>T (p.Gly1214Val)
c.3572G>T (p.Gly1191Val)
c.3440G>T (p.Gly1147Val)
c.3308G>T (p.Gly1103Val)
20g.32436174T>ACA510467266ASXL1c.3462T>A (p.Gly1154=)
c.3279T>A (p.Gly1093=)
n.5815T>A
c.1869+1593T>A (n.1869+1593T>A)
c.3447T>A (p.Gly1149=)
c.3459T>A (p.Gly1153=)
c.3432T>A (p.Gly1144=)
c.3378T>A (p.Gly1126=)
c.2778T>A (p.Gly926=)
c.3726T>A (p.Gly1242=)
c.3723T>A (p.Gly1241=)
c.3642T>A (p.Gly1214=)
c.3573T>A (p.Gly1191=)
c.3441T>A (p.Gly1147=)
c.3309T>A (p.Gly1103=)
 dbSNP
20g.32436174T>CCA510467265ASXL1c.3462T>C (p.Gly1154=)
c.3279T>C (p.Gly1093=)
n.5815T>C
c.1869+1593T>C (n.1869+1593T>C)
c.3447T>C (p.Gly1149=)
c.3459T>C (p.Gly1153=)
c.3432T>C (p.Gly1144=)
c.3378T>C (p.Gly1126=)
c.2778T>C (p.Gly926=)
c.3726T>C (p.Gly1242=)
c.3723T>C (p.Gly1241=)
c.3642T>C (p.Gly1214=)
c.3573T>C (p.Gly1191=)
c.3441T>C (p.Gly1147=)
c.3309T>C (p.Gly1103=)
20g.32436174T>GCA510467264ASXL1c.3462T>G (p.Gly1154=)
c.3279T>G (p.Gly1093=)
n.5815T>G
c.1869+1593T>G (n.1869+1593T>G)
c.3447T>G (p.Gly1149=)
c.3459T>G (p.Gly1153=)
c.3432T>G (p.Gly1144=)
c.3378T>G (p.Gly1126=)
c.2778T>G (p.Gly926=)
c.3726T>G (p.Gly1242=)
c.3723T>G (p.Gly1241=)
c.3642T>G (p.Gly1214=)
c.3573T>G (p.Gly1191=)
c.3441T>G (p.Gly1147=)
c.3309T>G (p.Gly1103=)
 gnomAD v4
20g.32436175C>ACA9808832ASXL1c.3463C>A (p.Leu1155Ile)
c.3280C>A (p.Leu1094Ile)
n.5816C>A
c.1869+1594C>A (n.1869+1594C>A)
c.3448C>A (p.Leu1150Ile)
c.3460C>A (p.Leu1154Ile)
c.3433C>A (p.Leu1145Ile)
c.3379C>A (p.Leu1127Ile)
c.2779C>A (p.Leu927Ile)
c.3727C>A (p.Leu1243Ile)
c.3724C>A (p.Leu1242Ile)
c.3643C>A (p.Leu1215Ile)
c.3574C>A (p.Leu1192Ile)
c.3442C>A (p.Leu1148Ile)
c.3310C>A (p.Leu1104Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436175C=CA2360293571ASXL1c.3463C= (p.Leu1155=)
c.3280C= (p.Leu1094=)
n.5816C=
c.1869+1594C= (n.1869+1594C=)
c.3448C= (p.Leu1150=)
c.3460C= (p.Leu1154=)
c.3433C= (p.Leu1145=)
c.3379C= (p.Leu1127=)
c.2779C= (p.Leu927=)
c.3727C= (p.Leu1243=)
c.3724C= (p.Leu1242=)
c.3643C= (p.Leu1215=)
c.3574C= (p.Leu1192=)
c.3442C= (p.Leu1148=)
c.3310C= (p.Leu1104=)
20g.32436175C>GCA408563109ASXL1c.3463C>G (p.Leu1155Val)
c.3280C>G (p.Leu1094Val)
n.5816C>G
c.1869+1594C>G (n.1869+1594C>G)
c.3448C>G (p.Leu1150Val)
c.3460C>G (p.Leu1154Val)
c.3433C>G (p.Leu1145Val)
c.3379C>G (p.Leu1127Val)
c.2779C>G (p.Leu927Val)
c.3727C>G (p.Leu1243Val)
c.3724C>G (p.Leu1242Val)
c.3643C>G (p.Leu1215Val)
c.3574C>G (p.Leu1192Val)
c.3442C>G (p.Leu1148Val)
c.3310C>G (p.Leu1104Val)
20g.32436175C>TCA408563110ASXL1c.3463C>T (p.Leu1155Phe)
c.3280C>T (p.Leu1094Phe)
n.5816C>T
c.1869+1594C>T (n.1869+1594C>T)
c.3448C>T (p.Leu1150Phe)
c.3460C>T (p.Leu1154Phe)
c.3433C>T (p.Leu1145Phe)
c.3379C>T (p.Leu1127Phe)
c.2779C>T (p.Leu927Phe)
c.3727C>T (p.Leu1243Phe)
c.3724C>T (p.Leu1242Phe)
c.3643C>T (p.Leu1215Phe)
c.3574C>T (p.Leu1192Phe)
c.3442C>T (p.Leu1148Phe)
c.3310C>T (p.Leu1104Phe)
20g.32436176T>ACA408563111ASXL1c.3464T>A (p.Leu1155His)
c.3281T>A (p.Leu1094His)
n.5817T>A
c.1869+1595T>A (n.1869+1595T>A)
c.3449T>A (p.Leu1150His)
c.3461T>A (p.Leu1154His)
c.3434T>A (p.Leu1145His)
c.3380T>A (p.Leu1127His)
c.2780T>A (p.Leu927His)
c.3728T>A (p.Leu1243His)
c.3725T>A (p.Leu1242His)
c.3644T>A (p.Leu1215His)
c.3575T>A (p.Leu1192His)
c.3443T>A (p.Leu1148His)
c.3311T>A (p.Leu1104His)
20g.32436176T>CCA408563112ASXL1c.3464T>C (p.Leu1155Pro)
c.3281T>C (p.Leu1094Pro)
n.5817T>C
c.1869+1595T>C (n.1869+1595T>C)
c.3449T>C (p.Leu1150Pro)
c.3461T>C (p.Leu1154Pro)
c.3434T>C (p.Leu1145Pro)
c.3380T>C (p.Leu1127Pro)
c.2780T>C (p.Leu927Pro)
c.3728T>C (p.Leu1243Pro)
c.3725T>C (p.Leu1242Pro)
c.3644T>C (p.Leu1215Pro)
c.3575T>C (p.Leu1192Pro)
c.3443T>C (p.Leu1148Pro)
c.3311T>C (p.Leu1104Pro)
20g.32436176T>GCA408563113ASXL1c.3464T>G (p.Leu1155Arg)
c.3281T>G (p.Leu1094Arg)
n.5817T>G
c.1869+1595T>G (n.1869+1595T>G)
c.3449T>G (p.Leu1150Arg)
c.3461T>G (p.Leu1154Arg)
c.3434T>G (p.Leu1145Arg)
c.3380T>G (p.Leu1127Arg)
c.2780T>G (p.Leu927Arg)
c.3728T>G (p.Leu1243Arg)
c.3725T>G (p.Leu1242Arg)
c.3644T>G (p.Leu1215Arg)
c.3575T>G (p.Leu1192Arg)
c.3443T>G (p.Leu1148Arg)
c.3311T>G (p.Leu1104Arg)
20g.32436177T>ACA510467268ASXL1c.3465T>A (p.Leu1155=)
c.3282T>A (p.Leu1094=)
n.5818T>A
c.1869+1596T>A (n.1869+1596T>A)
c.3450T>A (p.Leu1150=)
c.3462T>A (p.Leu1154=)
c.3435T>A (p.Leu1145=)
c.3381T>A (p.Leu1127=)
c.2781T>A (p.Leu927=)
c.3729T>A (p.Leu1243=)
c.3726T>A (p.Leu1242=)
c.3645T>A (p.Leu1215=)
c.3576T>A (p.Leu1192=)
c.3444T>A (p.Leu1148=)
c.3312T>A (p.Leu1104=)
20g.32436177T>CCA9808833ASXL1c.3465T>C (p.Leu1155=)
c.3282T>C (p.Leu1094=)
n.5818T>C
c.1869+1596T>C (n.1869+1596T>C)
c.3450T>C (p.Leu1150=)
c.3462T>C (p.Leu1154=)
c.3435T>C (p.Leu1145=)
c.3381T>C (p.Leu1127=)
c.2781T>C (p.Leu927=)
c.3729T>C (p.Leu1243=)
c.3726T>C (p.Leu1242=)
c.3645T>C (p.Leu1215=)
c.3576T>C (p.Leu1192=)
c.3444T>C (p.Leu1148=)
c.3312T>C (p.Leu1104=)
 dbSNP ExAC
20g.32436177T>GCA510467267ASXL1c.3465T>G (p.Leu1155=)
c.3282T>G (p.Leu1094=)
n.5818T>G
c.1869+1596T>G (n.1869+1596T>G)
c.3450T>G (p.Leu1150=)
c.3462T>G (p.Leu1154=)
c.3435T>G (p.Leu1145=)
c.3381T>G (p.Leu1127=)
c.2781T>G (p.Leu927=)
c.3729T>G (p.Leu1243=)
c.3726T>G (p.Leu1242=)
c.3645T>G (p.Leu1215=)
c.3576T>G (p.Leu1192=)
c.3444T>G (p.Leu1148=)
c.3312T>G (p.Leu1104=)
20g.32436177T=CA2360293572ASXL1c.3465T= (p.Leu1155=)
c.3282T= (p.Leu1094=)
n.5818T=
c.1869+1596T= (n.1869+1596T=)
c.3450T= (p.Leu1150=)
c.3462T= (p.Leu1154=)
c.3435T= (p.Leu1145=)
c.3381T= (p.Leu1127=)
c.2781T= (p.Leu927=)
c.3729T= (p.Leu1243=)
c.3726T= (p.Leu1242=)
c.3645T= (p.Leu1215=)
c.3576T= (p.Leu1192=)
c.3444T= (p.Leu1148=)
c.3312T= (p.Leu1104=)
20g.32436178G>ACA408563114ASXL1c.3466G>A (p.Gly1156Arg)
c.3283G>A (p.Gly1095Arg)
n.5819G>A
c.1869+1597G>A (n.1869+1597G>A)
c.3451G>A (p.Gly1151Arg)
c.3463G>A (p.Gly1155Arg)
c.3436G>A (p.Gly1146Arg)
c.3382G>A (p.Gly1128Arg)
c.2782G>A (p.Gly928Arg)
c.3730G>A (p.Gly1244Arg)
c.3727G>A (p.Gly1243Arg)
c.3646G>A (p.Gly1216Arg)
c.3577G>A (p.Gly1193Arg)
c.3445G>A (p.Gly1149Arg)
c.3313G>A (p.Gly1105Arg)
 dbSNP
20g.32436178G>CCA408563116ASXL1c.3466G>C (p.Gly1156Arg)
c.3283G>C (p.Gly1095Arg)
n.5819G>C
c.1869+1597G>C (n.1869+1597G>C)
c.3451G>C (p.Gly1151Arg)
c.3463G>C (p.Gly1155Arg)
c.3436G>C (p.Gly1146Arg)
c.3382G>C (p.Gly1128Arg)
c.2782G>C (p.Gly928Arg)
c.3730G>C (p.Gly1244Arg)
c.3727G>C (p.Gly1243Arg)
c.3646G>C (p.Gly1216Arg)
c.3577G>C (p.Gly1193Arg)
c.3445G>C (p.Gly1149Arg)
c.3313G>C (p.Gly1105Arg)
20g.32436178G>TCA408563115ASXL1c.3466G>T (p.Gly1156Ter)
c.3283G>T (p.Gly1095Ter)
n.5819G>T
c.1869+1597G>T (n.1869+1597G>T)
c.3451G>T (p.Gly1151Ter)
c.3463G>T (p.Gly1155Ter)
c.3436G>T (p.Gly1146Ter)
c.3382G>T (p.Gly1128Ter)
c.2782G>T (p.Gly928Ter)
c.3730G>T (p.Gly1244Ter)
c.3727G>T (p.Gly1243Ter)
c.3646G>T (p.Gly1216Ter)
c.3577G>T (p.Gly1193Ter)
c.3445G>T (p.Gly1149Ter)
c.3313G>T (p.Gly1105Ter)
20g.32436179G>ACA408563117ASXL1c.3467G>A (p.Gly1156Glu)
c.3284G>A (p.Gly1095Glu)
n.5820G>A
c.1869+1598G>A (n.1869+1598G>A)
c.3452G>A (p.Gly1151Glu)
c.3464G>A (p.Gly1155Glu)
c.3437G>A (p.Gly1146Glu)
c.3383G>A (p.Gly1128Glu)
c.2783G>A (p.Gly928Glu)
c.3731G>A (p.Gly1244Glu)
c.3728G>A (p.Gly1243Glu)
c.3647G>A (p.Gly1216Glu)
c.3578G>A (p.Gly1193Glu)
c.3446G>A (p.Gly1149Glu)
c.3314G>A (p.Gly1105Glu)
 dbSNP
20g.32436179G>CCA408563119ASXL1c.3467G>C (p.Gly1156Ala)
c.3284G>C (p.Gly1095Ala)
n.5820G>C
c.1869+1598G>C (n.1869+1598G>C)
c.3452G>C (p.Gly1151Ala)
c.3464G>C (p.Gly1155Ala)
c.3437G>C (p.Gly1146Ala)
c.3383G>C (p.Gly1128Ala)
c.2783G>C (p.Gly928Ala)
c.3731G>C (p.Gly1244Ala)
c.3728G>C (p.Gly1243Ala)
c.3647G>C (p.Gly1216Ala)
c.3578G>C (p.Gly1193Ala)
c.3446G>C (p.Gly1149Ala)
c.3314G>C (p.Gly1105Ala)
20g.32436179G=CA2360293573ASXL1c.3467G= (p.Gly1156=)
c.3284G= (p.Gly1095=)
n.5820G=
c.1869+1598G= (n.1869+1598G=)
c.3452G= (p.Gly1151=)
c.3464G= (p.Gly1155=)
c.3437G= (p.Gly1146=)
c.3383G= (p.Gly1128=)
c.2783G= (p.Gly928=)
c.3731G= (p.Gly1244=)
c.3728G= (p.Gly1243=)
c.3647G= (p.Gly1216=)
c.3578G= (p.Gly1193=)
c.3446G= (p.Gly1149=)
c.3314G= (p.Gly1105=)
20g.32436179G>TCA408563118ASXL1c.3467G>T (p.Gly1156Val)
c.3284G>T (p.Gly1095Val)
n.5820G>T
c.1869+1598G>T (n.1869+1598G>T)
c.3452G>T (p.Gly1151Val)
c.3464G>T (p.Gly1155Val)
c.3437G>T (p.Gly1146Val)
c.3383G>T (p.Gly1128Val)
c.2783G>T (p.Gly928Val)
c.3731G>T (p.Gly1244Val)
c.3728G>T (p.Gly1243Val)
c.3647G>T (p.Gly1216Val)
c.3578G>T (p.Gly1193Val)
c.3446G>T (p.Gly1149Val)
c.3314G>T (p.Gly1105Val)
20g.32436180A>CCA510467269ASXL1c.3468A>C (p.Gly1156=)
c.3285A>C (p.Gly1095=)
n.5821A>C
c.1869+1599A>C (n.1869+1599A>C)
c.3453A>C (p.Gly1151=)
c.3465A>C (p.Gly1155=)
c.3438A>C (p.Gly1146=)
c.3384A>C (p.Gly1128=)
c.2784A>C (p.Gly928=)
c.3732A>C (p.Gly1244=)
c.3729A>C (p.Gly1243=)
c.3648A>C (p.Gly1216=)
c.3579A>C (p.Gly1193=)
c.3447A>C (p.Gly1149=)
c.3315A>C (p.Gly1105=)
20g.32436180A>GCA510467271ASXL1c.3468A>G (p.Gly1156=)
c.3285A>G (p.Gly1095=)
n.5821A>G
c.1869+1599A>G (n.1869+1599A>G)
c.3453A>G (p.Gly1151=)
c.3465A>G (p.Gly1155=)
c.3438A>G (p.Gly1146=)
c.3384A>G (p.Gly1128=)
c.2784A>G (p.Gly928=)
c.3732A>G (p.Gly1244=)
c.3729A>G (p.Gly1243=)
c.3648A>G (p.Gly1216=)
c.3579A>G (p.Gly1193=)
c.3447A>G (p.Gly1149=)
c.3315A>G (p.Gly1105=)
20g.32436180A>TCA510467270ASXL1c.3468A>T (p.Gly1156=)
c.3285A>T (p.Gly1095=)
n.5821A>T
c.1869+1599A>T (n.1869+1599A>T)
c.3453A>T (p.Gly1151=)
c.3465A>T (p.Gly1155=)
c.3438A>T (p.Gly1146=)
c.3384A>T (p.Gly1128=)
c.2784A>T (p.Gly928=)
c.3732A>T (p.Gly1244=)
c.3729A>T (p.Gly1243=)
c.3648A>T (p.Gly1216=)
c.3579A>T (p.Gly1193=)
c.3447A>T (p.Gly1149=)
c.3315A>T (p.Gly1105=)
20g.32436185dupCA920201482ASXL1c.3473dup (p.Asn1158LysfsTer6)
c.3290dup (p.Asn1097LysfsTer6)
n.5826dup
c.1869+1604dup (n.1869+1604dup)
c.3458dup (p.Asn1153LysfsTer6)
c.3470dup (p.Asn1157LysfsTer6)
c.3443dup (p.Asn1148LysfsTer6)
c.3389dup (p.Asn1130LysfsTer6)
c.2789dup (p.Asn930LysfsTer6)
c.3737dup (p.Asn1246LysfsTer6)
c.3734dup (p.Asn1245LysfsTer6)
c.3653dup (p.Asn1218LysfsTer6)
c.3584dup (p.Asn1195LysfsTer6)
c.3452dup (p.Asn1151LysfsTer6)
c.3320dup (p.Asn1107LysfsTer6)
 dbSNP
20g.32436185delCA2736476292ASXL1c.3473del (p.Asn1158ThrfsTer13)
c.3290del (p.Asn1097ThrfsTer13)
n.5826del
c.1869+1604del (n.1869+1604del)
c.3458del (p.Asn1153ThrfsTer13)
c.3470del (p.Asn1157ThrfsTer13)
c.3443del (p.Asn1148ThrfsTer13)
c.3389del (p.Asn1130ThrfsTer13)
c.2789del (p.Asn930ThrfsTer13)
c.3737del (p.Asn1246ThrfsTer13)
c.3734del (p.Asn1245ThrfsTer13)
c.3653del (p.Asn1218ThrfsTer13)
c.3584del (p.Asn1195ThrfsTer13)
c.3452del (p.Asn1151ThrfsTer13)
c.3320del (p.Asn1107ThrfsTer13)
 dbSNP
20g.32436181A=CA2360293574ASXL1c.3469A= (p.Lys1157=)
c.3286A= (p.Lys1096=)
n.5822A=
c.1869+1600A= (n.1869+1600A=)
c.3454A= (p.Lys1152=)
c.3466A= (p.Lys1156=)
c.3439A= (p.Lys1147=)
c.3385A= (p.Lys1129=)
c.2785A= (p.Lys929=)
c.3733A= (p.Lys1245=)
c.3730A= (p.Lys1244=)
c.3649A= (p.Lys1217=)
c.3580A= (p.Lys1194=)
c.3448A= (p.Lys1150=)
c.3316A= (p.Lys1106=)
20g.32436181A>CCA408563120ASXL1c.3469A>C (p.Lys1157Gln)
c.3286A>C (p.Lys1096Gln)
n.5822A>C
c.1869+1600A>C (n.1869+1600A>C)
c.3454A>C (p.Lys1152Gln)
c.3466A>C (p.Lys1156Gln)
c.3439A>C (p.Lys1147Gln)
c.3385A>C (p.Lys1129Gln)
c.2785A>C (p.Lys929Gln)
c.3733A>C (p.Lys1245Gln)
c.3730A>C (p.Lys1244Gln)
c.3649A>C (p.Lys1217Gln)
c.3580A>C (p.Lys1194Gln)
c.3448A>C (p.Lys1150Gln)
c.3316A>C (p.Lys1106Gln)
20g.32436181A>GCA9808834ASXL1c.3469A>G (p.Lys1157Glu)
c.3286A>G (p.Lys1096Glu)
n.5822A>G
c.1869+1600A>G (n.1869+1600A>G)
c.3454A>G (p.Lys1152Glu)
c.3466A>G (p.Lys1156Glu)
c.3439A>G (p.Lys1147Glu)
c.3385A>G (p.Lys1129Glu)
c.2785A>G (p.Lys929Glu)
c.3733A>G (p.Lys1245Glu)
c.3730A>G (p.Lys1244Glu)
c.3649A>G (p.Lys1217Glu)
c.3580A>G (p.Lys1194Glu)
c.3448A>G (p.Lys1150Glu)
c.3316A>G (p.Lys1106Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436181A>TCA408563121ASXL1c.3469A>T (p.Lys1157Ter)
c.3286A>T (p.Lys1096Ter)
n.5822A>T
c.1869+1600A>T (n.1869+1600A>T)
c.3454A>T (p.Lys1152Ter)
c.3466A>T (p.Lys1156Ter)
c.3439A>T (p.Lys1147Ter)
c.3385A>T (p.Lys1129Ter)
c.2785A>T (p.Lys929Ter)
c.3733A>T (p.Lys1245Ter)
c.3730A>T (p.Lys1244Ter)
c.3649A>T (p.Lys1217Ter)
c.3580A>T (p.Lys1194Ter)
c.3448A>T (p.Lys1150Ter)
c.3316A>T (p.Lys1106Ter)
20g.32436182A=CA2360293575ASXL1c.3470A= (p.Lys1157=)
c.3287A= (p.Lys1096=)
n.5823A=
c.1869+1601A= (n.1869+1601A=)
c.3455A= (p.Lys1152=)
c.3467A= (p.Lys1156=)
c.3440A= (p.Lys1147=)
c.3386A= (p.Lys1129=)
c.2786A= (p.Lys929=)
c.3734A= (p.Lys1245=)
c.3731A= (p.Lys1244=)
c.3650A= (p.Lys1217=)
c.3581A= (p.Lys1194=)
c.3449A= (p.Lys1150=)
c.3317A= (p.Lys1106=)
20g.32436182A>CCA408563122ASXL1c.3470A>C (p.Lys1157Thr)
c.3287A>C (p.Lys1096Thr)
n.5823A>C
c.1869+1601A>C (n.1869+1601A>C)
c.3455A>C (p.Lys1152Thr)
c.3467A>C (p.Lys1156Thr)
c.3440A>C (p.Lys1147Thr)
c.3386A>C (p.Lys1129Thr)
c.2786A>C (p.Lys929Thr)
c.3734A>C (p.Lys1245Thr)
c.3731A>C (p.Lys1244Thr)
c.3650A>C (p.Lys1217Thr)
c.3581A>C (p.Lys1194Thr)
c.3449A>C (p.Lys1150Thr)
c.3317A>C (p.Lys1106Thr)
20g.32436182A>GCA9808835ASXL1c.3470A>G (p.Lys1157Arg)
c.3287A>G (p.Lys1096Arg)
n.5823A>G
c.1869+1601A>G (n.1869+1601A>G)
c.3455A>G (p.Lys1152Arg)
c.3467A>G (p.Lys1156Arg)
c.3440A>G (p.Lys1147Arg)
c.3386A>G (p.Lys1129Arg)
c.2786A>G (p.Lys929Arg)
c.3734A>G (p.Lys1245Arg)
c.3731A>G (p.Lys1244Arg)
c.3650A>G (p.Lys1217Arg)
c.3581A>G (p.Lys1194Arg)
c.3449A>G (p.Lys1150Arg)
c.3317A>G (p.Lys1106Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436182A>TCA408563123ASXL1c.3470A>T (p.Lys1157Ile)
c.3287A>T (p.Lys1096Ile)
n.5823A>T
c.1869+1601A>T (n.1869+1601A>T)
c.3455A>T (p.Lys1152Ile)
c.3467A>T (p.Lys1156Ile)
c.3440A>T (p.Lys1147Ile)
c.3386A>T (p.Lys1129Ile)
c.2786A>T (p.Lys929Ile)
c.3734A>T (p.Lys1245Ile)
c.3731A>T (p.Lys1244Ile)
c.3650A>T (p.Lys1217Ile)
c.3581A>T (p.Lys1194Ile)
c.3449A>T (p.Lys1150Ile)
c.3317A>T (p.Lys1106Ile)
20g.32436183A>CCA408563124ASXL1c.3471A>C (p.Lys1157Asn)
c.3288A>C (p.Lys1096Asn)
n.5824A>C
c.1869+1602A>C (n.1869+1602A>C)
c.3456A>C (p.Lys1152Asn)
c.3468A>C (p.Lys1156Asn)
c.3441A>C (p.Lys1147Asn)
c.3387A>C (p.Lys1129Asn)
c.2787A>C (p.Lys929Asn)
c.3735A>C (p.Lys1245Asn)
c.3732A>C (p.Lys1244Asn)
c.3651A>C (p.Lys1217Asn)
c.3582A>C (p.Lys1194Asn)
c.3450A>C (p.Lys1150Asn)
c.3318A>C (p.Lys1106Asn)
20g.32436183A>GCA510467272ASXL1c.3471A>G (p.Lys1157=)
c.3288A>G (p.Lys1096=)
n.5824A>G
c.1869+1602A>G (n.1869+1602A>G)
c.3456A>G (p.Lys1152=)
c.3468A>G (p.Lys1156=)
c.3441A>G (p.Lys1147=)
c.3387A>G (p.Lys1129=)
c.2787A>G (p.Lys929=)
c.3735A>G (p.Lys1245=)
c.3732A>G (p.Lys1244=)
c.3651A>G (p.Lys1217=)
c.3582A>G (p.Lys1194=)
c.3450A>G (p.Lys1150=)
c.3318A>G (p.Lys1106=)
20g.32436183A>TCA408563125ASXL1c.3471A>T (p.Lys1157Asn)
c.3288A>T (p.Lys1096Asn)
n.5824A>T
c.1869+1602A>T (n.1869+1602A>T)
c.3456A>T (p.Lys1152Asn)
c.3468A>T (p.Lys1156Asn)
c.3441A>T (p.Lys1147Asn)
c.3387A>T (p.Lys1129Asn)
c.2787A>T (p.Lys929Asn)
c.3735A>T (p.Lys1245Asn)
c.3732A>T (p.Lys1244Asn)
c.3651A>T (p.Lys1217Asn)
c.3582A>T (p.Lys1194Asn)
c.3450A>T (p.Lys1150Asn)
c.3318A>T (p.Lys1106Asn)
20g.32436183_32436186delinsAAACCA2360293576ASXL1c.3471_3474delinsAAAC (p.Lys1157=)
c.3288_3291delinsAAAC (p.Lys1096=)
n.5824_5827delinsAAAC
c.1869+1602_1869+1605delinsAAAC (n.1869+1602_1869+1605delinsAAAC)
c.3456_3459delinsAAAC (p.Lys1152=)
c.3468_3471delinsAAAC (p.Lys1156=)
c.3441_3444delinsAAAC (p.Lys1147=)
c.3387_3390delinsAAAC (p.Lys1129=)
c.2787_2790delinsAAAC (p.Lys929=)
c.3735_3738delinsAAAC (p.Lys1245=)
c.3732_3735delinsAAAC (p.Lys1244=)
c.3651_3654delinsAAAC (p.Lys1217=)
c.3582_3585delinsAAAC (p.Lys1194=)
c.3450_3453delinsAAAC (p.Lys1150=)
c.3318_3321delinsAAAC (p.Lys1106=)
20g.32436184A>CCA408563126ASXL1c.3472A>C (p.Asn1158His)
c.3289A>C (p.Asn1097His)
n.5825A>C
c.1869+1603A>C (n.1869+1603A>C)
c.3457A>C (p.Asn1153His)
c.3469A>C (p.Asn1157His)
c.3442A>C (p.Asn1148His)
c.3388A>C (p.Asn1130His)
c.2788A>C (p.Asn930His)
c.3736A>C (p.Asn1246His)
c.3733A>C (p.Asn1245His)
c.3652A>C (p.Asn1218His)
c.3583A>C (p.Asn1195His)
c.3451A>C (p.Asn1151His)
c.3319A>C (p.Asn1107His)
20g.32436184A>GCA408563127ASXL1c.3472A>G (p.Asn1158Asp)
c.3289A>G (p.Asn1097Asp)
n.5825A>G
c.1869+1603A>G (n.1869+1603A>G)
c.3457A>G (p.Asn1153Asp)
c.3469A>G (p.Asn1157Asp)
c.3442A>G (p.Asn1148Asp)
c.3388A>G (p.Asn1130Asp)
c.2788A>G (p.Asn930Asp)
c.3736A>G (p.Asn1246Asp)
c.3733A>G (p.Asn1245Asp)
c.3652A>G (p.Asn1218Asp)
c.3583A>G (p.Asn1195Asp)
c.3451A>G (p.Asn1151Asp)
c.3319A>G (p.Asn1107Asp)
20g.32436184A>TCA408563128ASXL1c.3472A>T (p.Asn1158Tyr)
c.3289A>T (p.Asn1097Tyr)
n.5825A>T
c.1869+1603A>T (n.1869+1603A>T)
c.3457A>T (p.Asn1153Tyr)
c.3469A>T (p.Asn1157Tyr)
c.3442A>T (p.Asn1148Tyr)
c.3388A>T (p.Asn1130Tyr)
c.2788A>T (p.Asn930Tyr)
c.3736A>T (p.Asn1246Tyr)
c.3733A>T (p.Asn1245Tyr)
c.3652A>T (p.Asn1218Tyr)
c.3583A>T (p.Asn1195Tyr)
c.3451A>T (p.Asn1151Tyr)
c.3319A>T (p.Asn1107Tyr)
20g.32436185_32436187delCA743615196ASXL1c.3473_3475del (p.Asn1158del)
c.3290_3292del (p.Asn1097del)
n.5826_5828del
c.1869+1604_1869+1606del (n.1869+1604_1869+1606del)
c.3458_3460del (p.Asn1153del)
c.3470_3472del (p.Asn1157del)
c.3443_3445del (p.Asn1148del)
c.3389_3391del (p.Asn1130del)
c.2789_2791del (p.Asn930del)
c.3737_3739del (p.Asn1246del)
c.3734_3736del (p.Asn1245del)
c.3653_3655del (p.Asn1218del)
c.3584_3586del (p.Asn1195del)
c.3452_3454del (p.Asn1151del)
c.3320_3322del (p.Asn1107del)
 dbSNP
20g.32436185A>CCA408563131ASXL1c.3473A>C (p.Asn1158Thr)
c.3290A>C (p.Asn1097Thr)
n.5826A>C
c.1869+1604A>C (n.1869+1604A>C)
c.3458A>C (p.Asn1153Thr)
c.3470A>C (p.Asn1157Thr)
c.3443A>C (p.Asn1148Thr)
c.3389A>C (p.Asn1130Thr)
c.2789A>C (p.Asn930Thr)
c.3737A>C (p.Asn1246Thr)
c.3734A>C (p.Asn1245Thr)
c.3653A>C (p.Asn1218Thr)
c.3584A>C (p.Asn1195Thr)
c.3452A>C (p.Asn1151Thr)
c.3320A>C (p.Asn1107Thr)
20g.32436185A>GCA408563129ASXL1c.3473A>G (p.Asn1158Ser)
c.3290A>G (p.Asn1097Ser)
n.5826A>G
c.1869+1604A>G (n.1869+1604A>G)
c.3458A>G (p.Asn1153Ser)
c.3470A>G (p.Asn1157Ser)
c.3443A>G (p.Asn1148Ser)
c.3389A>G (p.Asn1130Ser)
c.2789A>G (p.Asn930Ser)
c.3737A>G (p.Asn1246Ser)
c.3734A>G (p.Asn1245Ser)
c.3653A>G (p.Asn1218Ser)
c.3584A>G (p.Asn1195Ser)
c.3452A>G (p.Asn1151Ser)
c.3320A>G (p.Asn1107Ser)
 gnomAD v4
20g.32436185A>TCA408563130ASXL1c.3473A>T (p.Asn1158Ile)
c.3290A>T (p.Asn1097Ile)
n.5826A>T
c.1869+1604A>T (n.1869+1604A>T)
c.3458A>T (p.Asn1153Ile)
c.3470A>T (p.Asn1157Ile)
c.3443A>T (p.Asn1148Ile)
c.3389A>T (p.Asn1130Ile)
c.2789A>T (p.Asn930Ile)
c.3737A>T (p.Asn1246Ile)
c.3734A>T (p.Asn1245Ile)
c.3653A>T (p.Asn1218Ile)
c.3584A>T (p.Asn1195Ile)
c.3452A>T (p.Asn1151Ile)
c.3320A>T (p.Asn1107Ile)
20g.32436186C>ACA408563132ASXL1c.3474C>A (p.Asn1158Lys)
c.3291C>A (p.Asn1097Lys)
n.5827C>A
c.1869+1605C>A (n.1869+1605C>A)
c.3459C>A (p.Asn1153Lys)
c.3471C>A (p.Asn1157Lys)
c.3444C>A (p.Asn1148Lys)
c.3390C>A (p.Asn1130Lys)
c.2790C>A (p.Asn930Lys)
c.3738C>A (p.Asn1246Lys)
c.3735C>A (p.Asn1245Lys)
c.3654C>A (p.Asn1218Lys)
c.3585C>A (p.Asn1195Lys)
c.3453C>A (p.Asn1151Lys)
c.3321C>A (p.Asn1107Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436186C=CA2360293577ASXL1c.3474C= (p.Asn1158=)
c.3291C= (p.Asn1097=)
n.5827C=
c.1869+1605C= (n.1869+1605C=)
c.3459C= (p.Asn1153=)
c.3471C= (p.Asn1157=)
c.3444C= (p.Asn1148=)
c.3390C= (p.Asn1130=)
c.2790C= (p.Asn930=)
c.3738C= (p.Asn1246=)
c.3735C= (p.Asn1245=)
c.3654C= (p.Asn1218=)
c.3585C= (p.Asn1195=)
c.3453C= (p.Asn1151=)
c.3321C= (p.Asn1107=)
20g.32436186C>GCA408563133ASXL1c.3474C>G (p.Asn1158Lys)
c.3291C>G (p.Asn1097Lys)
n.5827C>G
c.1869+1605C>G (n.1869+1605C>G)
c.3459C>G (p.Asn1153Lys)
c.3471C>G (p.Asn1157Lys)
c.3444C>G (p.Asn1148Lys)
c.3390C>G (p.Asn1130Lys)
c.2790C>G (p.Asn930Lys)
c.3738C>G (p.Asn1246Lys)
c.3735C>G (p.Asn1245Lys)
c.3654C>G (p.Asn1218Lys)
c.3585C>G (p.Asn1195Lys)
c.3453C>G (p.Asn1151Lys)
c.3321C>G (p.Asn1107Lys)
 dbSNP
20g.32436186C>TCA510467273ASXL1c.3474C>T (p.Asn1158=)
c.3291C>T (p.Asn1097=)
n.5827C>T
c.1869+1605C>T (n.1869+1605C>T)
c.3459C>T (p.Asn1153=)
c.3471C>T (p.Asn1157=)
c.3444C>T (p.Asn1148=)
c.3390C>T (p.Asn1130=)
c.2790C>T (p.Asn930=)
c.3738C>T (p.Asn1246=)
c.3735C>T (p.Asn1245=)
c.3654C>T (p.Asn1218=)
c.3585C>T (p.Asn1195=)
c.3453C>T (p.Asn1151=)
c.3321C>T (p.Asn1107=)
 dbSNP

Number of alleles fetched