Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436057_32436067delCA2652401188ASXL1c.3345_3355del (p.Ser1115ArgfsTer10)
c.3162_3172del (p.Ser1054ArgfsTer10)
n.5698_5708del
c.1869+1476_1869+1486del (n.1869+1476_1869+1486del)
c.3330_3340del (p.Ser1110ArgfsTer10)
c.3342_3352del (p.Ser1114ArgfsTer10)
c.3315_3325del (p.Ser1105ArgfsTer10)
c.3261_3271del (p.Ser1087ArgfsTer10)
c.2661_2671del (p.Ser887ArgfsTer10)
c.3609_3619del (p.Ser1203ArgfsTer10)
c.3606_3616del (p.Ser1202ArgfsTer10)
c.3525_3535del (p.Ser1175ArgfsTer10)
c.3456_3466del (p.Ser1152ArgfsTer10)
c.3324_3334del (p.Ser1108ArgfsTer10)
c.3192_3202del (p.Ser1064ArgfsTer10)
 gnomAD v4
20g.32436061C>ACA408562874ASXL1c.3349C>A (p.Pro1117Thr)
c.3166C>A (p.Pro1056Thr)
n.5702C>A
c.1869+1480C>A (n.1869+1480C>A)
c.3334C>A (p.Pro1112Thr)
c.3346C>A (p.Pro1116Thr)
c.3319C>A (p.Pro1107Thr)
c.3265C>A (p.Pro1089Thr)
c.2665C>A (p.Pro889Thr)
c.3613C>A (p.Pro1205Thr)
c.3610C>A (p.Pro1204Thr)
c.3529C>A (p.Pro1177Thr)
c.3460C>A (p.Pro1154Thr)
c.3328C>A (p.Pro1110Thr)
c.3196C>A (p.Pro1066Thr)
 dbSNP gnomAD v4
20g.32436061C=CA2360293514ASXL1c.3349C= (p.Pro1117=)
c.3166C= (p.Pro1056=)
n.5702C=
c.1869+1480C= (n.1869+1480C=)
c.3334C= (p.Pro1112=)
c.3346C= (p.Pro1116=)
c.3319C= (p.Pro1107=)
c.3265C= (p.Pro1089=)
c.2665C= (p.Pro889=)
c.3613C= (p.Pro1205=)
c.3610C= (p.Pro1204=)
c.3529C= (p.Pro1177=)
c.3460C= (p.Pro1154=)
c.3328C= (p.Pro1110=)
c.3196C= (p.Pro1066=)
20g.32436061C>GCA408562875ASXL1c.3349C>G (p.Pro1117Ala)
c.3166C>G (p.Pro1056Ala)
n.5702C>G
c.1869+1480C>G (n.1869+1480C>G)
c.3334C>G (p.Pro1112Ala)
c.3346C>G (p.Pro1116Ala)
c.3319C>G (p.Pro1107Ala)
c.3265C>G (p.Pro1089Ala)
c.2665C>G (p.Pro889Ala)
c.3613C>G (p.Pro1205Ala)
c.3610C>G (p.Pro1204Ala)
c.3529C>G (p.Pro1177Ala)
c.3460C>G (p.Pro1154Ala)
c.3328C>G (p.Pro1110Ala)
c.3196C>G (p.Pro1066Ala)
20g.32436061C>TCA408562876ASXL1c.3349C>T (p.Pro1117Ser)
c.3166C>T (p.Pro1056Ser)
n.5702C>T
c.1869+1480C>T (n.1869+1480C>T)
c.3334C>T (p.Pro1112Ser)
c.3346C>T (p.Pro1116Ser)
c.3319C>T (p.Pro1107Ser)
c.3265C>T (p.Pro1089Ser)
c.2665C>T (p.Pro889Ser)
c.3613C>T (p.Pro1205Ser)
c.3610C>T (p.Pro1204Ser)
c.3529C>T (p.Pro1177Ser)
c.3460C>T (p.Pro1154Ser)
c.3328C>T (p.Pro1110Ser)
c.3196C>T (p.Pro1066Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.32436062C>ACA408562877ASXL1c.3350C>A (p.Pro1117His)
c.3167C>A (p.Pro1056His)
n.5703C>A
c.1869+1481C>A (n.1869+1481C>A)
c.3335C>A (p.Pro1112His)
c.3347C>A (p.Pro1116His)
c.3320C>A (p.Pro1107His)
c.3266C>A (p.Pro1089His)
c.2666C>A (p.Pro889His)
c.3614C>A (p.Pro1205His)
c.3611C>A (p.Pro1204His)
c.3530C>A (p.Pro1177His)
c.3461C>A (p.Pro1154His)
c.3329C>A (p.Pro1110His)
c.3197C>A (p.Pro1066His)
 dbSNP
20g.32436062C>GCA408562878ASXL1c.3350C>G (p.Pro1117Arg)
c.3167C>G (p.Pro1056Arg)
n.5703C>G
c.1869+1481C>G (n.1869+1481C>G)
c.3335C>G (p.Pro1112Arg)
c.3347C>G (p.Pro1116Arg)
c.3320C>G (p.Pro1107Arg)
c.3266C>G (p.Pro1089Arg)
c.2666C>G (p.Pro889Arg)
c.3614C>G (p.Pro1205Arg)
c.3611C>G (p.Pro1204Arg)
c.3530C>G (p.Pro1177Arg)
c.3461C>G (p.Pro1154Arg)
c.3329C>G (p.Pro1110Arg)
c.3197C>G (p.Pro1066Arg)
20g.32436062C>TCA408562879ASXL1c.3350C>T (p.Pro1117Leu)
c.3167C>T (p.Pro1056Leu)
n.5703C>T
c.1869+1481C>T (n.1869+1481C>T)
c.3335C>T (p.Pro1112Leu)
c.3347C>T (p.Pro1116Leu)
c.3320C>T (p.Pro1107Leu)
c.3266C>T (p.Pro1089Leu)
c.2666C>T (p.Pro889Leu)
c.3614C>T (p.Pro1205Leu)
c.3611C>T (p.Pro1204Leu)
c.3530C>T (p.Pro1177Leu)
c.3461C>T (p.Pro1154Leu)
c.3329C>T (p.Pro1110Leu)
c.3197C>T (p.Pro1066Leu)
 COSMIC
20g.32436063C>ACA9808799ASXL1c.3351C>A (p.Pro1117=)
c.3168C>A (p.Pro1056=)
n.5704C>A
c.1869+1482C>A (n.1869+1482C>A)
c.3336C>A (p.Pro1112=)
c.3348C>A (p.Pro1116=)
c.3321C>A (p.Pro1107=)
c.3267C>A (p.Pro1089=)
c.2667C>A (p.Pro889=)
c.3615C>A (p.Pro1205=)
c.3612C>A (p.Pro1204=)
c.3531C>A (p.Pro1177=)
c.3462C>A (p.Pro1154=)
c.3330C>A (p.Pro1110=)
c.3198C>A (p.Pro1066=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436063C=CA2360293515ASXL1c.3351C= (p.Pro1117=)
c.3168C= (p.Pro1056=)
n.5704C=
c.1869+1482C= (n.1869+1482C=)
c.3336C= (p.Pro1112=)
c.3348C= (p.Pro1116=)
c.3321C= (p.Pro1107=)
c.3267C= (p.Pro1089=)
c.2667C= (p.Pro889=)
c.3615C= (p.Pro1205=)
c.3612C= (p.Pro1204=)
c.3531C= (p.Pro1177=)
c.3462C= (p.Pro1154=)
c.3330C= (p.Pro1110=)
c.3198C= (p.Pro1066=)
20g.32436063C>GCA510467124ASXL1c.3351C>G (p.Pro1117=)
c.3168C>G (p.Pro1056=)
n.5704C>G
c.1869+1482C>G (n.1869+1482C>G)
c.3336C>G (p.Pro1112=)
c.3348C>G (p.Pro1116=)
c.3321C>G (p.Pro1107=)
c.3267C>G (p.Pro1089=)
c.2667C>G (p.Pro889=)
c.3615C>G (p.Pro1205=)
c.3612C>G (p.Pro1204=)
c.3531C>G (p.Pro1177=)
c.3462C>G (p.Pro1154=)
c.3330C>G (p.Pro1110=)
c.3198C>G (p.Pro1066=)
 dbSNP
20g.32436063C>TCA510467121ASXL1c.3351C>T (p.Pro1117=)
c.3168C>T (p.Pro1056=)
n.5704C>T
c.1869+1482C>T (n.1869+1482C>T)
c.3336C>T (p.Pro1112=)
c.3348C>T (p.Pro1116=)
c.3321C>T (p.Pro1107=)
c.3267C>T (p.Pro1089=)
c.2667C>T (p.Pro889=)
c.3615C>T (p.Pro1205=)
c.3612C>T (p.Pro1204=)
c.3531C>T (p.Pro1177=)
c.3462C>T (p.Pro1154=)
c.3330C>T (p.Pro1110=)
c.3198C>T (p.Pro1066=)
 dbSNP gnomAD v4 COSMIC
20g.32436064C>ACA408562880ASXL1c.3352C>A (p.Leu1118Ile)
c.3169C>A (p.Leu1057Ile)
n.5705C>A
c.1869+1483C>A (n.1869+1483C>A)
c.3337C>A (p.Leu1113Ile)
c.3349C>A (p.Leu1117Ile)
c.3322C>A (p.Leu1108Ile)
c.3268C>A (p.Leu1090Ile)
c.2668C>A (p.Leu890Ile)
c.3616C>A (p.Leu1206Ile)
c.3613C>A (p.Leu1205Ile)
c.3532C>A (p.Leu1178Ile)
c.3463C>A (p.Leu1155Ile)
c.3331C>A (p.Leu1111Ile)
c.3199C>A (p.Leu1067Ile)
20g.32436064C=CA2360293516ASXL1c.3352C= (p.Leu1118=)
c.3169C= (p.Leu1057=)
n.5705C=
c.1869+1483C= (n.1869+1483C=)
c.3337C= (p.Leu1113=)
c.3349C= (p.Leu1117=)
c.3322C= (p.Leu1108=)
c.3268C= (p.Leu1090=)
c.2668C= (p.Leu890=)
c.3616C= (p.Leu1206=)
c.3613C= (p.Leu1205=)
c.3532C= (p.Leu1178=)
c.3463C= (p.Leu1155=)
c.3331C= (p.Leu1111=)
c.3199C= (p.Leu1067=)
20g.32436064C>GCA408562881ASXL1c.3352C>G (p.Leu1118Val)
c.3169C>G (p.Leu1057Val)
n.5705C>G
c.1869+1483C>G (n.1869+1483C>G)
c.3337C>G (p.Leu1113Val)
c.3349C>G (p.Leu1117Val)
c.3322C>G (p.Leu1108Val)
c.3268C>G (p.Leu1090Val)
c.2668C>G (p.Leu890Val)
c.3616C>G (p.Leu1206Val)
c.3613C>G (p.Leu1205Val)
c.3532C>G (p.Leu1178Val)
c.3463C>G (p.Leu1155Val)
c.3331C>G (p.Leu1111Val)
c.3199C>G (p.Leu1067Val)
20g.32436064C>TCA510467125ASXL1c.3352C>T (p.Leu1118=)
c.3169C>T (p.Leu1057=)
n.5705C>T
c.1869+1483C>T (n.1869+1483C>T)
c.3337C>T (p.Leu1113=)
c.3349C>T (p.Leu1117=)
c.3322C>T (p.Leu1108=)
c.3268C>T (p.Leu1090=)
c.2668C>T (p.Leu890=)
c.3616C>T (p.Leu1206=)
c.3613C>T (p.Leu1205=)
c.3532C>T (p.Leu1178=)
c.3463C>T (p.Leu1155=)
c.3331C>T (p.Leu1111=)
c.3199C>T (p.Leu1067=)
 ClinVar dbSNP gnomAD v4
20g.32436065T>ACA408562884ASXL1c.3353T>A (p.Leu1118Gln)
c.3170T>A (p.Leu1057Gln)
n.5706T>A
c.1869+1484T>A (n.1869+1484T>A)
c.3338T>A (p.Leu1113Gln)
c.3350T>A (p.Leu1117Gln)
c.3323T>A (p.Leu1108Gln)
c.3269T>A (p.Leu1090Gln)
c.2669T>A (p.Leu890Gln)
c.3617T>A (p.Leu1206Gln)
c.3614T>A (p.Leu1205Gln)
c.3533T>A (p.Leu1178Gln)
c.3464T>A (p.Leu1155Gln)
c.3332T>A (p.Leu1111Gln)
c.3200T>A (p.Leu1067Gln)
20g.32436065T>CCA408562882ASXL1c.3353T>C (p.Leu1118Pro)
c.3170T>C (p.Leu1057Pro)
n.5706T>C
c.1869+1484T>C (n.1869+1484T>C)
c.3338T>C (p.Leu1113Pro)
c.3350T>C (p.Leu1117Pro)
c.3323T>C (p.Leu1108Pro)
c.3269T>C (p.Leu1090Pro)
c.2669T>C (p.Leu890Pro)
c.3617T>C (p.Leu1206Pro)
c.3614T>C (p.Leu1205Pro)
c.3533T>C (p.Leu1178Pro)
c.3464T>C (p.Leu1155Pro)
c.3332T>C (p.Leu1111Pro)
c.3200T>C (p.Leu1067Pro)
20g.32436065T>GCA408562883ASXL1c.3353T>G (p.Leu1118Arg)
c.3170T>G (p.Leu1057Arg)
n.5706T>G
c.1869+1484T>G (n.1869+1484T>G)
c.3338T>G (p.Leu1113Arg)
c.3350T>G (p.Leu1117Arg)
c.3323T>G (p.Leu1108Arg)
c.3269T>G (p.Leu1090Arg)
c.2669T>G (p.Leu890Arg)
c.3617T>G (p.Leu1206Arg)
c.3614T>G (p.Leu1205Arg)
c.3533T>G (p.Leu1178Arg)
c.3464T>G (p.Leu1155Arg)
c.3332T>G (p.Leu1111Arg)
c.3200T>G (p.Leu1067Arg)
 gnomAD v4
20g.32436066A>CCA510467128ASXL1c.3354A>C (p.Leu1118=)
c.3171A>C (p.Leu1057=)
n.5707A>C
c.1869+1485A>C (n.1869+1485A>C)
c.3339A>C (p.Leu1113=)
c.3351A>C (p.Leu1117=)
c.3324A>C (p.Leu1108=)
c.3270A>C (p.Leu1090=)
c.2670A>C (p.Leu890=)
c.3618A>C (p.Leu1206=)
c.3615A>C (p.Leu1205=)
c.3534A>C (p.Leu1178=)
c.3465A>C (p.Leu1155=)
c.3333A>C (p.Leu1111=)
c.3201A>C (p.Leu1067=)
20g.32436066A>GCA510467129ASXL1c.3354A>G (p.Leu1118=)
c.3171A>G (p.Leu1057=)
n.5707A>G
c.1869+1485A>G (n.1869+1485A>G)
c.3339A>G (p.Leu1113=)
c.3351A>G (p.Leu1117=)
c.3324A>G (p.Leu1108=)
c.3270A>G (p.Leu1090=)
c.2670A>G (p.Leu890=)
c.3618A>G (p.Leu1206=)
c.3615A>G (p.Leu1205=)
c.3534A>G (p.Leu1178=)
c.3465A>G (p.Leu1155=)
c.3333A>G (p.Leu1111=)
c.3201A>G (p.Leu1067=)
20g.32436066A>TCA510467130ASXL1c.3354A>T (p.Leu1118=)
c.3171A>T (p.Leu1057=)
n.5707A>T
c.1869+1485A>T (n.1869+1485A>T)
c.3339A>T (p.Leu1113=)
c.3351A>T (p.Leu1117=)
c.3324A>T (p.Leu1108=)
c.3270A>T (p.Leu1090=)
c.2670A>T (p.Leu890=)
c.3618A>T (p.Leu1206=)
c.3615A>T (p.Leu1205=)
c.3534A>T (p.Leu1178=)
c.3465A>T (p.Leu1155=)
c.3333A>T (p.Leu1111=)
c.3201A>T (p.Leu1067=)
20g.32436067G>ACA408562885ASXL1c.3355G>A (p.Glu1119Lys)
c.3172G>A (p.Glu1058Lys)
n.5708G>A
c.1869+1486G>A (n.1869+1486G>A)
c.3340G>A (p.Glu1114Lys)
c.3352G>A (p.Glu1118Lys)
c.3325G>A (p.Glu1109Lys)
c.3271G>A (p.Glu1091Lys)
c.2671G>A (p.Glu891Lys)
c.3619G>A (p.Glu1207Lys)
c.3616G>A (p.Glu1206Lys)
c.3535G>A (p.Glu1179Lys)
c.3466G>A (p.Glu1156Lys)
c.3334G>A (p.Glu1112Lys)
c.3202G>A (p.Glu1068Lys)
20g.32436067G>CCA408562886ASXL1c.3355G>C (p.Glu1119Gln)
c.3172G>C (p.Glu1058Gln)
n.5708G>C
c.1869+1486G>C (n.1869+1486G>C)
c.3340G>C (p.Glu1114Gln)
c.3352G>C (p.Glu1118Gln)
c.3325G>C (p.Glu1109Gln)
c.3271G>C (p.Glu1091Gln)
c.2671G>C (p.Glu891Gln)
c.3619G>C (p.Glu1207Gln)
c.3616G>C (p.Glu1206Gln)
c.3535G>C (p.Glu1179Gln)
c.3466G>C (p.Glu1156Gln)
c.3334G>C (p.Glu1112Gln)
c.3202G>C (p.Glu1068Gln)
20g.32436067G>TCA408562887ASXL1c.3355G>T (p.Glu1119Ter)
c.3172G>T (p.Glu1058Ter)
n.5708G>T
c.1869+1486G>T (n.1869+1486G>T)
c.3340G>T (p.Glu1114Ter)
c.3352G>T (p.Glu1118Ter)
c.3325G>T (p.Glu1109Ter)
c.3271G>T (p.Glu1091Ter)
c.2671G>T (p.Glu891Ter)
c.3619G>T (p.Glu1207Ter)
c.3616G>T (p.Glu1206Ter)
c.3535G>T (p.Glu1179Ter)
c.3466G>T (p.Glu1156Ter)
c.3334G>T (p.Glu1112Ter)
c.3202G>T (p.Glu1068Ter)
20g.32436068A>CCA408562888ASXL1c.3356A>C (p.Glu1119Ala)
c.3173A>C (p.Glu1058Ala)
n.5709A>C
c.1869+1487A>C (n.1869+1487A>C)
c.3341A>C (p.Glu1114Ala)
c.3353A>C (p.Glu1118Ala)
c.3326A>C (p.Glu1109Ala)
c.3272A>C (p.Glu1091Ala)
c.2672A>C (p.Glu891Ala)
c.3620A>C (p.Glu1207Ala)
c.3617A>C (p.Glu1206Ala)
c.3536A>C (p.Glu1179Ala)
c.3467A>C (p.Glu1156Ala)
c.3335A>C (p.Glu1112Ala)
c.3203A>C (p.Glu1068Ala)
20g.32436068A>GCA408562889ASXL1c.3356A>G (p.Glu1119Gly)
c.3173A>G (p.Glu1058Gly)
n.5709A>G
c.1869+1487A>G (n.1869+1487A>G)
c.3341A>G (p.Glu1114Gly)
c.3353A>G (p.Glu1118Gly)
c.3326A>G (p.Glu1109Gly)
c.3272A>G (p.Glu1091Gly)
c.2672A>G (p.Glu891Gly)
c.3620A>G (p.Glu1207Gly)
c.3617A>G (p.Glu1206Gly)
c.3536A>G (p.Glu1179Gly)
c.3467A>G (p.Glu1156Gly)
c.3335A>G (p.Glu1112Gly)
c.3203A>G (p.Glu1068Gly)
20g.32436068A>TCA408562890ASXL1c.3356A>T (p.Glu1119Val)
c.3173A>T (p.Glu1058Val)
n.5709A>T
c.1869+1487A>T (n.1869+1487A>T)
c.3341A>T (p.Glu1114Val)
c.3353A>T (p.Glu1118Val)
c.3326A>T (p.Glu1109Val)
c.3272A>T (p.Glu1091Val)
c.2672A>T (p.Glu891Val)
c.3620A>T (p.Glu1207Val)
c.3617A>T (p.Glu1206Val)
c.3536A>T (p.Glu1179Val)
c.3467A>T (p.Glu1156Val)
c.3335A>T (p.Glu1112Val)
c.3203A>T (p.Glu1068Val)
20g.32436069G>ACA510467135ASXL1c.3357G>A (p.Glu1119=)
c.3174G>A (p.Glu1058=)
n.5710G>A
c.1869+1488G>A (n.1869+1488G>A)
c.3342G>A (p.Glu1114=)
c.3354G>A (p.Glu1118=)
c.3327G>A (p.Glu1109=)
c.3273G>A (p.Glu1091=)
c.2673G>A (p.Glu891=)
c.3621G>A (p.Glu1207=)
c.3618G>A (p.Glu1206=)
c.3537G>A (p.Glu1179=)
c.3468G>A (p.Glu1156=)
c.3336G>A (p.Glu1112=)
c.3204G>A (p.Glu1068=)
20g.32436069G>CCA408562891ASXL1c.3357G>C (p.Glu1119Asp)
c.3174G>C (p.Glu1058Asp)
n.5710G>C
c.1869+1488G>C (n.1869+1488G>C)
c.3342G>C (p.Glu1114Asp)
c.3354G>C (p.Glu1118Asp)
c.3327G>C (p.Glu1109Asp)
c.3273G>C (p.Glu1091Asp)
c.2673G>C (p.Glu891Asp)
c.3621G>C (p.Glu1207Asp)
c.3618G>C (p.Glu1206Asp)
c.3537G>C (p.Glu1179Asp)
c.3468G>C (p.Glu1156Asp)
c.3336G>C (p.Glu1112Asp)
c.3204G>C (p.Glu1068Asp)
 dbSNP gnomAD v2 gnomAD v4
20g.32436069G=CA2360293517ASXL1c.3357G= (p.Glu1119=)
c.3174G= (p.Glu1058=)
n.5710G=
c.1869+1488G= (n.1869+1488G=)
c.3342G= (p.Glu1114=)
c.3354G= (p.Glu1118=)
c.3327G= (p.Glu1109=)
c.3273G= (p.Glu1091=)
c.2673G= (p.Glu891=)
c.3621G= (p.Glu1207=)
c.3618G= (p.Glu1206=)
c.3537G= (p.Glu1179=)
c.3468G= (p.Glu1156=)
c.3336G= (p.Glu1112=)
c.3204G= (p.Glu1068=)
20g.32436069G>TCA408562892ASXL1c.3357G>T (p.Glu1119Asp)
c.3174G>T (p.Glu1058Asp)
n.5710G>T
c.1869+1488G>T (n.1869+1488G>T)
c.3342G>T (p.Glu1114Asp)
c.3354G>T (p.Glu1118Asp)
c.3327G>T (p.Glu1109Asp)
c.3273G>T (p.Glu1091Asp)
c.2673G>T (p.Glu891Asp)
c.3621G>T (p.Glu1207Asp)
c.3618G>T (p.Glu1206Asp)
c.3537G>T (p.Glu1179Asp)
c.3468G>T (p.Glu1156Asp)
c.3336G>T (p.Glu1112Asp)
c.3204G>T (p.Glu1068Asp)
20g.32436070A>CCA408562893ASXL1c.3358A>C (p.Lys1120Gln)
c.3175A>C (p.Lys1059Gln)
n.5711A>C
c.1869+1489A>C (n.1869+1489A>C)
c.3343A>C (p.Lys1115Gln)
c.3355A>C (p.Lys1119Gln)
c.3328A>C (p.Lys1110Gln)
c.3274A>C (p.Lys1092Gln)
c.2674A>C (p.Lys892Gln)
c.3622A>C (p.Lys1208Gln)
c.3619A>C (p.Lys1207Gln)
c.3538A>C (p.Lys1180Gln)
c.3469A>C (p.Lys1157Gln)
c.3337A>C (p.Lys1113Gln)
c.3205A>C (p.Lys1069Gln)
20g.32436070A>GCA408562894ASXL1c.3358A>G (p.Lys1120Glu)
c.3175A>G (p.Lys1059Glu)
n.5711A>G
c.1869+1489A>G (n.1869+1489A>G)
c.3343A>G (p.Lys1115Glu)
c.3355A>G (p.Lys1119Glu)
c.3328A>G (p.Lys1110Glu)
c.3274A>G (p.Lys1092Glu)
c.2674A>G (p.Lys892Glu)
c.3622A>G (p.Lys1208Glu)
c.3619A>G (p.Lys1207Glu)
c.3538A>G (p.Lys1180Glu)
c.3469A>G (p.Lys1157Glu)
c.3337A>G (p.Lys1113Glu)
c.3205A>G (p.Lys1069Glu)
20g.32436070A>TCA408562895ASXL1c.3358A>T (p.Lys1120Ter)
c.3175A>T (p.Lys1059Ter)
n.5711A>T
c.1869+1489A>T (n.1869+1489A>T)
c.3343A>T (p.Lys1115Ter)
c.3355A>T (p.Lys1119Ter)
c.3328A>T (p.Lys1110Ter)
c.3274A>T (p.Lys1092Ter)
c.2674A>T (p.Lys892Ter)
c.3622A>T (p.Lys1208Ter)
c.3619A>T (p.Lys1207Ter)
c.3538A>T (p.Lys1180Ter)
c.3469A>T (p.Lys1157Ter)
c.3337A>T (p.Lys1113Ter)
c.3205A>T (p.Lys1069Ter)
20g.32436071A=CA2360293518ASXL1c.3359A= (p.Lys1120=)
c.3176A= (p.Lys1059=)
n.5712A=
c.1869+1490A= (n.1869+1490A=)
c.3344A= (p.Lys1115=)
c.3356A= (p.Lys1119=)
c.3329A= (p.Lys1110=)
c.3275A= (p.Lys1092=)
c.2675A= (p.Lys892=)
c.3623A= (p.Lys1208=)
c.3620A= (p.Lys1207=)
c.3539A= (p.Lys1180=)
c.3470A= (p.Lys1157=)
c.3338A= (p.Lys1113=)
c.3206A= (p.Lys1069=)
20g.32436071A>CCA408562897ASXL1c.3359A>C (p.Lys1120Thr)
c.3176A>C (p.Lys1059Thr)
n.5712A>C
c.1869+1490A>C (n.1869+1490A>C)
c.3344A>C (p.Lys1115Thr)
c.3356A>C (p.Lys1119Thr)
c.3329A>C (p.Lys1110Thr)
c.3275A>C (p.Lys1092Thr)
c.2675A>C (p.Lys892Thr)
c.3623A>C (p.Lys1208Thr)
c.3620A>C (p.Lys1207Thr)
c.3539A>C (p.Lys1180Thr)
c.3470A>C (p.Lys1157Thr)
c.3338A>C (p.Lys1113Thr)
c.3206A>C (p.Lys1069Thr)
20g.32436071A>GCA408562896ASXL1c.3359A>G (p.Lys1120Arg)
c.3176A>G (p.Lys1059Arg)
n.5712A>G
c.1869+1490A>G (n.1869+1490A>G)
c.3344A>G (p.Lys1115Arg)
c.3356A>G (p.Lys1119Arg)
c.3329A>G (p.Lys1110Arg)
c.3275A>G (p.Lys1092Arg)
c.2675A>G (p.Lys892Arg)
c.3623A>G (p.Lys1208Arg)
c.3620A>G (p.Lys1207Arg)
c.3539A>G (p.Lys1180Arg)
c.3470A>G (p.Lys1157Arg)
c.3338A>G (p.Lys1113Arg)
c.3206A>G (p.Lys1069Arg)
20g.32436071A>TCA9808800ASXL1c.3359A>T (p.Lys1120Met)
c.3176A>T (p.Lys1059Met)
n.5712A>T
c.1869+1490A>T (n.1869+1490A>T)
c.3344A>T (p.Lys1115Met)
c.3356A>T (p.Lys1119Met)
c.3329A>T (p.Lys1110Met)
c.3275A>T (p.Lys1092Met)
c.2675A>T (p.Lys892Met)
c.3623A>T (p.Lys1208Met)
c.3620A>T (p.Lys1207Met)
c.3539A>T (p.Lys1180Met)
c.3470A>T (p.Lys1157Met)
c.3338A>T (p.Lys1113Met)
c.3206A>T (p.Lys1069Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436072G>ACA10643726ASXL1c.3360G>A (p.Lys1120=)
c.3177G>A (p.Lys1059=)
n.5713G>A
c.1869+1491G>A (n.1869+1491G>A)
c.3345G>A (p.Lys1115=)
c.3357G>A (p.Lys1119=)
c.3330G>A (p.Lys1110=)
c.3276G>A (p.Lys1092=)
c.2676G>A (p.Lys892=)
c.3624G>A (p.Lys1208=)
c.3621G>A (p.Lys1207=)
c.3540G>A (p.Lys1180=)
c.3471G>A (p.Lys1157=)
c.3339G>A (p.Lys1113=)
c.3207G>A (p.Lys1069=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436072G>CCA408562898ASXL1c.3360G>C (p.Lys1120Asn)
c.3177G>C (p.Lys1059Asn)
n.5713G>C
c.1869+1491G>C (n.1869+1491G>C)
c.3345G>C (p.Lys1115Asn)
c.3357G>C (p.Lys1119Asn)
c.3330G>C (p.Lys1110Asn)
c.3276G>C (p.Lys1092Asn)
c.2676G>C (p.Lys892Asn)
c.3624G>C (p.Lys1208Asn)
c.3621G>C (p.Lys1207Asn)
c.3540G>C (p.Lys1180Asn)
c.3471G>C (p.Lys1157Asn)
c.3339G>C (p.Lys1113Asn)
c.3207G>C (p.Lys1069Asn)
 ClinVar gnomAD v4
20g.32436072G=CA2360293519ASXL1c.3360G= (p.Lys1120=)
c.3177G= (p.Lys1059=)
n.5713G=
c.1869+1491G= (n.1869+1491G=)
c.3345G= (p.Lys1115=)
c.3357G= (p.Lys1119=)
c.3330G= (p.Lys1110=)
c.3276G= (p.Lys1092=)
c.2676G= (p.Lys892=)
c.3624G= (p.Lys1208=)
c.3621G= (p.Lys1207=)
c.3540G= (p.Lys1180=)
c.3471G= (p.Lys1157=)
c.3339G= (p.Lys1113=)
c.3207G= (p.Lys1069=)
20g.32436072G>TCA408562899ASXL1c.3360G>T (p.Lys1120Asn)
c.3177G>T (p.Lys1059Asn)
n.5713G>T
c.1869+1491G>T (n.1869+1491G>T)
c.3345G>T (p.Lys1115Asn)
c.3357G>T (p.Lys1119Asn)
c.3330G>T (p.Lys1110Asn)
c.3276G>T (p.Lys1092Asn)
c.2676G>T (p.Lys892Asn)
c.3624G>T (p.Lys1208Asn)
c.3621G>T (p.Lys1207Asn)
c.3540G>T (p.Lys1180Asn)
c.3471G>T (p.Lys1157Asn)
c.3339G>T (p.Lys1113Asn)
c.3207G>T (p.Lys1069Asn)
20g.32436073G>ACA313926343ASXL1c.3361G>A (p.Val1121Ile)
c.3178G>A (p.Val1060Ile)
n.5714G>A
c.1869+1492G>A (n.1869+1492G>A)
c.3346G>A (p.Val1116Ile)
c.3358G>A (p.Val1120Ile)
c.3331G>A (p.Val1111Ile)
c.3277G>A (p.Val1093Ile)
c.2677G>A (p.Val893Ile)
c.3625G>A (p.Val1209Ile)
c.3622G>A (p.Val1208Ile)
c.3541G>A (p.Val1181Ile)
c.3472G>A (p.Val1158Ile)
c.3340G>A (p.Val1114Ile)
c.3208G>A (p.Val1070Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.32436073G>CCA408562900ASXL1c.3361G>C (p.Val1121Leu)
c.3178G>C (p.Val1060Leu)
n.5714G>C
c.1869+1492G>C (n.1869+1492G>C)
c.3346G>C (p.Val1116Leu)
c.3358G>C (p.Val1120Leu)
c.3331G>C (p.Val1111Leu)
c.3277G>C (p.Val1093Leu)
c.2677G>C (p.Val893Leu)
c.3625G>C (p.Val1209Leu)
c.3622G>C (p.Val1208Leu)
c.3541G>C (p.Val1181Leu)
c.3472G>C (p.Val1158Leu)
c.3340G>C (p.Val1114Leu)
c.3208G>C (p.Val1070Leu)
 dbSNP
20g.32436073G=CA2360293520ASXL1c.3361G= (p.Val1121=)
c.3178G= (p.Val1060=)
n.5714G=
c.1869+1492G= (n.1869+1492G=)
c.3346G= (p.Val1116=)
c.3358G= (p.Val1120=)
c.3331G= (p.Val1111=)
c.3277G= (p.Val1093=)
c.2677G= (p.Val893=)
c.3625G= (p.Val1209=)
c.3622G= (p.Val1208=)
c.3541G= (p.Val1181=)
c.3472G= (p.Val1158=)
c.3340G= (p.Val1114=)
c.3208G= (p.Val1070=)
20g.32436073G>TCA408562901ASXL1c.3361G>T (p.Val1121Phe)
c.3178G>T (p.Val1060Phe)
n.5714G>T
c.1869+1492G>T (n.1869+1492G>T)
c.3346G>T (p.Val1116Phe)
c.3358G>T (p.Val1120Phe)
c.3331G>T (p.Val1111Phe)
c.3277G>T (p.Val1093Phe)
c.2677G>T (p.Val893Phe)
c.3625G>T (p.Val1209Phe)
c.3622G>T (p.Val1208Phe)
c.3541G>T (p.Val1181Phe)
c.3472G>T (p.Val1158Phe)
c.3340G>T (p.Val1114Phe)
c.3208G>T (p.Val1070Phe)
20g.32436074T>ACA408562904ASXL1c.3362T>A (p.Val1121Asp)
c.3179T>A (p.Val1060Asp)
n.5715T>A
c.1869+1493T>A (n.1869+1493T>A)
c.3347T>A (p.Val1116Asp)
c.3359T>A (p.Val1120Asp)
c.3332T>A (p.Val1111Asp)
c.3278T>A (p.Val1093Asp)
c.2678T>A (p.Val893Asp)
c.3626T>A (p.Val1209Asp)
c.3623T>A (p.Val1208Asp)
c.3542T>A (p.Val1181Asp)
c.3473T>A (p.Val1158Asp)
c.3341T>A (p.Val1114Asp)
c.3209T>A (p.Val1070Asp)
20g.32436074T>CCA408562903ASXL1c.3362T>C (p.Val1121Ala)
c.3179T>C (p.Val1060Ala)
n.5715T>C
c.1869+1493T>C (n.1869+1493T>C)
c.3347T>C (p.Val1116Ala)
c.3359T>C (p.Val1120Ala)
c.3332T>C (p.Val1111Ala)
c.3278T>C (p.Val1093Ala)
c.2678T>C (p.Val893Ala)
c.3626T>C (p.Val1209Ala)
c.3623T>C (p.Val1208Ala)
c.3542T>C (p.Val1181Ala)
c.3473T>C (p.Val1158Ala)
c.3341T>C (p.Val1114Ala)
c.3209T>C (p.Val1070Ala)
20g.32436074T>GCA408562902ASXL1c.3362T>G (p.Val1121Gly)
c.3179T>G (p.Val1060Gly)
n.5715T>G
c.1869+1493T>G (n.1869+1493T>G)
c.3347T>G (p.Val1116Gly)
c.3359T>G (p.Val1120Gly)
c.3332T>G (p.Val1111Gly)
c.3278T>G (p.Val1093Gly)
c.2678T>G (p.Val893Gly)
c.3626T>G (p.Val1209Gly)
c.3623T>G (p.Val1208Gly)
c.3542T>G (p.Val1181Gly)
c.3473T>G (p.Val1158Gly)
c.3341T>G (p.Val1114Gly)
c.3209T>G (p.Val1070Gly)
 dbSNP
20g.32436075T>ACA510467151ASXL1c.3363T>A (p.Val1121=)
c.3180T>A (p.Val1060=)
n.5716T>A
c.1869+1494T>A (n.1869+1494T>A)
c.3348T>A (p.Val1116=)
c.3360T>A (p.Val1120=)
c.3333T>A (p.Val1111=)
c.3279T>A (p.Val1093=)
c.2679T>A (p.Val893=)
c.3627T>A (p.Val1209=)
c.3624T>A (p.Val1208=)
c.3543T>A (p.Val1181=)
c.3474T>A (p.Val1158=)
c.3342T>A (p.Val1114=)
c.3210T>A (p.Val1070=)
20g.32436075T>CCA510467153ASXL1c.3363T>C (p.Val1121=)
c.3180T>C (p.Val1060=)
n.5716T>C
c.1869+1494T>C (n.1869+1494T>C)
c.3348T>C (p.Val1116=)
c.3360T>C (p.Val1120=)
c.3333T>C (p.Val1111=)
c.3279T>C (p.Val1093=)
c.2679T>C (p.Val893=)
c.3627T>C (p.Val1209=)
c.3624T>C (p.Val1208=)
c.3543T>C (p.Val1181=)
c.3474T>C (p.Val1158=)
c.3342T>C (p.Val1114=)
c.3210T>C (p.Val1070=)
20g.32436075T>GCA510467152ASXL1c.3363T>G (p.Val1121=)
c.3180T>G (p.Val1060=)
n.5716T>G
c.1869+1494T>G (n.1869+1494T>G)
c.3348T>G (p.Val1116=)
c.3360T>G (p.Val1120=)
c.3333T>G (p.Val1111=)
c.3279T>G (p.Val1093=)
c.2679T>G (p.Val893=)
c.3627T>G (p.Val1209=)
c.3624T>G (p.Val1208=)
c.3543T>G (p.Val1181=)
c.3474T>G (p.Val1158=)
c.3342T>G (p.Val1114=)
c.3210T>G (p.Val1070=)
20g.32436076C>ACA408562905ASXL1c.3364C>A (p.Leu1122Ile)
c.3181C>A (p.Leu1061Ile)
n.5717C>A
c.1869+1495C>A (n.1869+1495C>A)
c.3349C>A (p.Leu1117Ile)
c.3361C>A (p.Leu1121Ile)
c.3334C>A (p.Leu1112Ile)
c.3280C>A (p.Leu1094Ile)
c.2680C>A (p.Leu894Ile)
c.3628C>A (p.Leu1210Ile)
c.3625C>A (p.Leu1209Ile)
c.3544C>A (p.Leu1182Ile)
c.3475C>A (p.Leu1159Ile)
c.3343C>A (p.Leu1115Ile)
c.3211C>A (p.Leu1071Ile)
 dbSNP gnomAD v3 gnomAD v4
20g.32436076C=CA2360293521ASXL1c.3364C= (p.Leu1122=)
c.3181C= (p.Leu1061=)
n.5717C=
c.1869+1495C= (n.1869+1495C=)
c.3349C= (p.Leu1117=)
c.3361C= (p.Leu1121=)
c.3334C= (p.Leu1112=)
c.3280C= (p.Leu1094=)
c.2680C= (p.Leu894=)
c.3628C= (p.Leu1210=)
c.3625C= (p.Leu1209=)
c.3544C= (p.Leu1182=)
c.3475C= (p.Leu1159=)
c.3343C= (p.Leu1115=)
c.3211C= (p.Leu1071=)
20g.32436076C>GCA408562906ASXL1c.3364C>G (p.Leu1122Val)
c.3181C>G (p.Leu1061Val)
n.5717C>G
c.1869+1495C>G (n.1869+1495C>G)
c.3349C>G (p.Leu1117Val)
c.3361C>G (p.Leu1121Val)
c.3334C>G (p.Leu1112Val)
c.3280C>G (p.Leu1094Val)
c.2680C>G (p.Leu894Val)
c.3628C>G (p.Leu1210Val)
c.3625C>G (p.Leu1209Val)
c.3544C>G (p.Leu1182Val)
c.3475C>G (p.Leu1159Val)
c.3343C>G (p.Leu1115Val)
c.3211C>G (p.Leu1071Val)
20g.32436076C>TCA408562907ASXL1c.3364C>T (p.Leu1122Phe)
c.3181C>T (p.Leu1061Phe)
n.5717C>T
c.1869+1495C>T (n.1869+1495C>T)
c.3349C>T (p.Leu1117Phe)
c.3361C>T (p.Leu1121Phe)
c.3334C>T (p.Leu1112Phe)
c.3280C>T (p.Leu1094Phe)
c.2680C>T (p.Leu894Phe)
c.3628C>T (p.Leu1210Phe)
c.3625C>T (p.Leu1209Phe)
c.3544C>T (p.Leu1182Phe)
c.3475C>T (p.Leu1159Phe)
c.3343C>T (p.Leu1115Phe)
c.3211C>T (p.Leu1071Phe)
 dbSNP
20g.32436077T>ACA408562908ASXL1c.3365T>A (p.Leu1122His)
c.3182T>A (p.Leu1061His)
n.5718T>A
c.1869+1496T>A (n.1869+1496T>A)
c.3350T>A (p.Leu1117His)
c.3362T>A (p.Leu1121His)
c.3335T>A (p.Leu1112His)
c.3281T>A (p.Leu1094His)
c.2681T>A (p.Leu894His)
c.3629T>A (p.Leu1210His)
c.3626T>A (p.Leu1209His)
c.3545T>A (p.Leu1182His)
c.3476T>A (p.Leu1159His)
c.3344T>A (p.Leu1115His)
c.3212T>A (p.Leu1071His)
20g.32436077T>CCA408562909ASXL1c.3365T>C (p.Leu1122Pro)
c.3182T>C (p.Leu1061Pro)
n.5718T>C
c.1869+1496T>C (n.1869+1496T>C)
c.3350T>C (p.Leu1117Pro)
c.3362T>C (p.Leu1121Pro)
c.3335T>C (p.Leu1112Pro)
c.3281T>C (p.Leu1094Pro)
c.2681T>C (p.Leu894Pro)
c.3629T>C (p.Leu1210Pro)
c.3626T>C (p.Leu1209Pro)
c.3545T>C (p.Leu1182Pro)
c.3476T>C (p.Leu1159Pro)
c.3344T>C (p.Leu1115Pro)
c.3212T>C (p.Leu1071Pro)
20g.32436077T>GCA408562910ASXL1c.3365T>G (p.Leu1122Arg)
c.3182T>G (p.Leu1061Arg)
n.5718T>G
c.1869+1496T>G (n.1869+1496T>G)
c.3350T>G (p.Leu1117Arg)
c.3362T>G (p.Leu1121Arg)
c.3335T>G (p.Leu1112Arg)
c.3281T>G (p.Leu1094Arg)
c.2681T>G (p.Leu894Arg)
c.3629T>G (p.Leu1210Arg)
c.3626T>G (p.Leu1209Arg)
c.3545T>G (p.Leu1182Arg)
c.3476T>G (p.Leu1159Arg)
c.3344T>G (p.Leu1115Arg)
c.3212T>G (p.Leu1071Arg)
20g.32436078T>ACA510467157ASXL1c.3366T>A (p.Leu1122=)
c.3183T>A (p.Leu1061=)
n.5719T>A
c.1869+1497T>A (n.1869+1497T>A)
c.3351T>A (p.Leu1117=)
c.3363T>A (p.Leu1121=)
c.3336T>A (p.Leu1112=)
c.3282T>A (p.Leu1094=)
c.2682T>A (p.Leu894=)
c.3630T>A (p.Leu1210=)
c.3627T>A (p.Leu1209=)
c.3546T>A (p.Leu1182=)
c.3477T>A (p.Leu1159=)
c.3345T>A (p.Leu1115=)
c.3213T>A (p.Leu1071=)
20g.32436078T>CCA510467158ASXL1c.3366T>C (p.Leu1122=)
c.3183T>C (p.Leu1061=)
n.5719T>C
c.1869+1497T>C (n.1869+1497T>C)
c.3351T>C (p.Leu1117=)
c.3363T>C (p.Leu1121=)
c.3336T>C (p.Leu1112=)
c.3282T>C (p.Leu1094=)
c.2682T>C (p.Leu894=)
c.3630T>C (p.Leu1210=)
c.3627T>C (p.Leu1209=)
c.3546T>C (p.Leu1182=)
c.3477T>C (p.Leu1159=)
c.3345T>C (p.Leu1115=)
c.3213T>C (p.Leu1071=)
20g.32436078T>GCA510467159ASXL1c.3366T>G (p.Leu1122=)
c.3183T>G (p.Leu1061=)
n.5719T>G
c.1869+1497T>G (n.1869+1497T>G)
c.3351T>G (p.Leu1117=)
c.3363T>G (p.Leu1121=)
c.3336T>G (p.Leu1112=)
c.3282T>G (p.Leu1094=)
c.2682T>G (p.Leu894=)
c.3630T>G (p.Leu1210=)
c.3627T>G (p.Leu1209=)
c.3546T>G (p.Leu1182=)
c.3477T>G (p.Leu1159=)
c.3345T>G (p.Leu1115=)
c.3213T>G (p.Leu1071=)
20g.32436079C>ACA408562911ASXL1c.3367C>A (p.Pro1123Thr)
c.3184C>A (p.Pro1062Thr)
n.5720C>A
c.1869+1498C>A (n.1869+1498C>A)
c.3352C>A (p.Pro1118Thr)
c.3364C>A (p.Pro1122Thr)
c.3337C>A (p.Pro1113Thr)
c.3283C>A (p.Pro1095Thr)
c.2683C>A (p.Pro895Thr)
c.3631C>A (p.Pro1211Thr)
c.3628C>A (p.Pro1210Thr)
c.3547C>A (p.Pro1183Thr)
c.3478C>A (p.Pro1160Thr)
c.3346C>A (p.Pro1116Thr)
c.3214C>A (p.Pro1072Thr)
20g.32436079C>GCA408562913ASXL1c.3367C>G (p.Pro1123Ala)
c.3184C>G (p.Pro1062Ala)
n.5720C>G
c.1869+1498C>G (n.1869+1498C>G)
c.3352C>G (p.Pro1118Ala)
c.3364C>G (p.Pro1122Ala)
c.3337C>G (p.Pro1113Ala)
c.3283C>G (p.Pro1095Ala)
c.2683C>G (p.Pro895Ala)
c.3631C>G (p.Pro1211Ala)
c.3628C>G (p.Pro1210Ala)
c.3547C>G (p.Pro1183Ala)
c.3478C>G (p.Pro1160Ala)
c.3346C>G (p.Pro1116Ala)
c.3214C>G (p.Pro1072Ala)
20g.32436079C>TCA408562912ASXL1c.3367C>T (p.Pro1123Ser)
c.3184C>T (p.Pro1062Ser)
n.5720C>T
c.1869+1498C>T (n.1869+1498C>T)
c.3352C>T (p.Pro1118Ser)
c.3364C>T (p.Pro1122Ser)
c.3337C>T (p.Pro1113Ser)
c.3283C>T (p.Pro1095Ser)
c.2683C>T (p.Pro895Ser)
c.3631C>T (p.Pro1211Ser)
c.3628C>T (p.Pro1210Ser)
c.3547C>T (p.Pro1183Ser)
c.3478C>T (p.Pro1160Ser)
c.3346C>T (p.Pro1116Ser)
c.3214C>T (p.Pro1072Ser)
 ClinVar gnomAD v4
20g.32436080delCA2652401192ASXL1c.3368del (p.Pro1123HisfsTer?)
c.3185del (p.Pro1062HisfsTer?)
n.5721del
c.1869+1499del (n.1869+1499del)
c.3353del (p.Pro1118HisfsTer?)
c.3365del (p.Pro1122HisfsTer?)
c.3338del (p.Pro1113HisfsTer?)
c.3284del (p.Pro1095HisfsTer?)
c.2684del (p.Pro895HisfsTer?)
c.3632del (p.Pro1211HisfsTer?)
c.3629del (p.Pro1210HisfsTer?)
c.3548del (p.Pro1183HisfsTer?)
c.3479del (p.Pro1160HisfsTer?)
c.3347del (p.Pro1116HisfsTer?)
c.3215del (p.Pro1072HisfsTer?)
 gnomAD v4
20g.32436080C>ACA408562914ASXL1c.3368C>A (p.Pro1123Gln)
c.3185C>A (p.Pro1062Gln)
n.5721C>A
c.1869+1499C>A (n.1869+1499C>A)
c.3353C>A (p.Pro1118Gln)
c.3365C>A (p.Pro1122Gln)
c.3338C>A (p.Pro1113Gln)
c.3284C>A (p.Pro1095Gln)
c.2684C>A (p.Pro895Gln)
c.3632C>A (p.Pro1211Gln)
c.3629C>A (p.Pro1210Gln)
c.3548C>A (p.Pro1183Gln)
c.3479C>A (p.Pro1160Gln)
c.3347C>A (p.Pro1116Gln)
c.3215C>A (p.Pro1072Gln)
20g.32436080C=CA2360293522ASXL1c.3368C= (p.Pro1123=)
c.3185C= (p.Pro1062=)
n.5721C=
c.1869+1499C= (n.1869+1499C=)
c.3353C= (p.Pro1118=)
c.3365C= (p.Pro1122=)
c.3338C= (p.Pro1113=)
c.3284C= (p.Pro1095=)
c.2684C= (p.Pro895=)
c.3632C= (p.Pro1211=)
c.3629C= (p.Pro1210=)
c.3548C= (p.Pro1183=)
c.3479C= (p.Pro1160=)
c.3347C= (p.Pro1116=)
c.3215C= (p.Pro1072=)
20g.32436080C>GCA408562915ASXL1c.3368C>G (p.Pro1123Arg)
c.3185C>G (p.Pro1062Arg)
n.5721C>G
c.1869+1499C>G (n.1869+1499C>G)
c.3353C>G (p.Pro1118Arg)
c.3365C>G (p.Pro1122Arg)
c.3338C>G (p.Pro1113Arg)
c.3284C>G (p.Pro1095Arg)
c.2684C>G (p.Pro895Arg)
c.3632C>G (p.Pro1211Arg)
c.3629C>G (p.Pro1210Arg)
c.3548C>G (p.Pro1183Arg)
c.3479C>G (p.Pro1160Arg)
c.3347C>G (p.Pro1116Arg)
c.3215C>G (p.Pro1072Arg)
 dbSNP
20g.32436080C>TCA9808801ASXL1c.3368C>T (p.Pro1123Leu)
c.3185C>T (p.Pro1062Leu)
n.5721C>T
c.1869+1499C>T (n.1869+1499C>T)
c.3353C>T (p.Pro1118Leu)
c.3365C>T (p.Pro1122Leu)
c.3338C>T (p.Pro1113Leu)
c.3284C>T (p.Pro1095Leu)
c.2684C>T (p.Pro895Leu)
c.3632C>T (p.Pro1211Leu)
c.3629C>T (p.Pro1210Leu)
c.3548C>T (p.Pro1183Leu)
c.3479C>T (p.Pro1160Leu)
c.3347C>T (p.Pro1116Leu)
c.3215C>T (p.Pro1072Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436081A>CCA510467165ASXL1c.3369A>C (p.Pro1123=)
c.3186A>C (p.Pro1062=)
n.5722A>C
c.1869+1500A>C (n.1869+1500A>C)
c.3354A>C (p.Pro1118=)
c.3366A>C (p.Pro1122=)
c.3339A>C (p.Pro1113=)
c.3285A>C (p.Pro1095=)
c.2685A>C (p.Pro895=)
c.3633A>C (p.Pro1211=)
c.3630A>C (p.Pro1210=)
c.3549A>C (p.Pro1183=)
c.3480A>C (p.Pro1160=)
c.3348A>C (p.Pro1116=)
c.3216A>C (p.Pro1072=)
20g.32436081A>GCA510467167ASXL1c.3369A>G (p.Pro1123=)
c.3186A>G (p.Pro1062=)
n.5722A>G
c.1869+1500A>G (n.1869+1500A>G)
c.3354A>G (p.Pro1118=)
c.3366A>G (p.Pro1122=)
c.3339A>G (p.Pro1113=)
c.3285A>G (p.Pro1095=)
c.2685A>G (p.Pro895=)
c.3633A>G (p.Pro1211=)
c.3630A>G (p.Pro1210=)
c.3549A>G (p.Pro1183=)
c.3480A>G (p.Pro1160=)
c.3348A>G (p.Pro1116=)
c.3216A>G (p.Pro1072=)
 gnomAD v4
20g.32436081A>TCA510467168ASXL1c.3369A>T (p.Pro1123=)
c.3186A>T (p.Pro1062=)
n.5722A>T
c.1869+1500A>T (n.1869+1500A>T)
c.3354A>T (p.Pro1118=)
c.3366A>T (p.Pro1122=)
c.3339A>T (p.Pro1113=)
c.3285A>T (p.Pro1095=)
c.2685A>T (p.Pro895=)
c.3633A>T (p.Pro1211=)
c.3630A>T (p.Pro1210=)
c.3549A>T (p.Pro1183=)
c.3480A>T (p.Pro1160=)
c.3348A>T (p.Pro1116=)
c.3216A>T (p.Pro1072=)
20g.32436082C>ACA408562916ASXL1c.3370C>A (p.Pro1124Thr)
c.3187C>A (p.Pro1063Thr)
n.5723C>A
c.1869+1501C>A (n.1869+1501C>A)
c.3355C>A (p.Pro1119Thr)
c.3367C>A (p.Pro1123Thr)
c.3340C>A (p.Pro1114Thr)
c.3286C>A (p.Pro1096Thr)
c.2686C>A (p.Pro896Thr)
c.3634C>A (p.Pro1212Thr)
c.3631C>A (p.Pro1211Thr)
c.3550C>A (p.Pro1184Thr)
c.3481C>A (p.Pro1161Thr)
c.3349C>A (p.Pro1117Thr)
c.3217C>A (p.Pro1073Thr)
20g.32436082C=CA2360293523ASXL1c.3370C= (p.Pro1124=)
c.3187C= (p.Pro1063=)
n.5723C=
c.1869+1501C= (n.1869+1501C=)
c.3355C= (p.Pro1119=)
c.3367C= (p.Pro1123=)
c.3340C= (p.Pro1114=)
c.3286C= (p.Pro1096=)
c.2686C= (p.Pro896=)
c.3634C= (p.Pro1212=)
c.3631C= (p.Pro1211=)
c.3550C= (p.Pro1184=)
c.3481C= (p.Pro1161=)
c.3349C= (p.Pro1117=)
c.3217C= (p.Pro1073=)
20g.32436082C>GCA408562917ASXL1c.3370C>G (p.Pro1124Ala)
c.3187C>G (p.Pro1063Ala)
n.5723C>G
c.1869+1501C>G (n.1869+1501C>G)
c.3355C>G (p.Pro1119Ala)
c.3367C>G (p.Pro1123Ala)
c.3340C>G (p.Pro1114Ala)
c.3286C>G (p.Pro1096Ala)
c.2686C>G (p.Pro896Ala)
c.3634C>G (p.Pro1212Ala)
c.3631C>G (p.Pro1211Ala)
c.3550C>G (p.Pro1184Ala)
c.3481C>G (p.Pro1161Ala)
c.3349C>G (p.Pro1117Ala)
c.3217C>G (p.Pro1073Ala)
 ClinVar
20g.32436082C>TCA9808802ASXL1c.3370C>T (p.Pro1124Ser)
c.3187C>T (p.Pro1063Ser)
n.5723C>T
c.1869+1501C>T (n.1869+1501C>T)
c.3355C>T (p.Pro1119Ser)
c.3367C>T (p.Pro1123Ser)
c.3340C>T (p.Pro1114Ser)
c.3286C>T (p.Pro1096Ser)
c.2686C>T (p.Pro896Ser)
c.3634C>T (p.Pro1212Ser)
c.3631C>T (p.Pro1211Ser)
c.3550C>T (p.Pro1184Ser)
c.3481C>T (p.Pro1161Ser)
c.3349C>T (p.Pro1117Ser)
c.3217C>T (p.Pro1073Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436083C>ACA408562918ASXL1c.3371C>A (p.Pro1124Gln)
c.3188C>A (p.Pro1063Gln)
n.5724C>A
c.1869+1502C>A (n.1869+1502C>A)
c.3356C>A (p.Pro1119Gln)
c.3368C>A (p.Pro1123Gln)
c.3341C>A (p.Pro1114Gln)
c.3287C>A (p.Pro1096Gln)
c.2687C>A (p.Pro896Gln)
c.3635C>A (p.Pro1212Gln)
c.3632C>A (p.Pro1211Gln)
c.3551C>A (p.Pro1184Gln)
c.3482C>A (p.Pro1161Gln)
c.3350C>A (p.Pro1117Gln)
c.3218C>A (p.Pro1073Gln)
 dbSNP
20g.32436083C=CA2360293524ASXL1c.3371C= (p.Pro1124=)
c.3188C= (p.Pro1063=)
n.5724C=
c.1869+1502C= (n.1869+1502C=)
c.3356C= (p.Pro1119=)
c.3368C= (p.Pro1123=)
c.3341C= (p.Pro1114=)
c.3287C= (p.Pro1096=)
c.2687C= (p.Pro896=)
c.3635C= (p.Pro1212=)
c.3632C= (p.Pro1211=)
c.3551C= (p.Pro1184=)
c.3482C= (p.Pro1161=)
c.3350C= (p.Pro1117=)
c.3218C= (p.Pro1073=)
20g.32436083C>GCA408562919ASXL1c.3371C>G (p.Pro1124Arg)
c.3188C>G (p.Pro1063Arg)
n.5724C>G
c.1869+1502C>G (n.1869+1502C>G)
c.3356C>G (p.Pro1119Arg)
c.3368C>G (p.Pro1123Arg)
c.3341C>G (p.Pro1114Arg)
c.3287C>G (p.Pro1096Arg)
c.2687C>G (p.Pro896Arg)
c.3635C>G (p.Pro1212Arg)
c.3632C>G (p.Pro1211Arg)
c.3551C>G (p.Pro1184Arg)
c.3482C>G (p.Pro1161Arg)
c.3350C>G (p.Pro1117Arg)
c.3218C>G (p.Pro1073Arg)
 dbSNP gnomAD v4
20g.32436083C>TCA9808803ASXL1c.3371C>T (p.Pro1124Leu)
c.3188C>T (p.Pro1063Leu)
n.5724C>T
c.1869+1502C>T (n.1869+1502C>T)
c.3356C>T (p.Pro1119Leu)
c.3368C>T (p.Pro1123Leu)
c.3341C>T (p.Pro1114Leu)
c.3287C>T (p.Pro1096Leu)
c.2687C>T (p.Pro896Leu)
c.3635C>T (p.Pro1212Leu)
c.3632C>T (p.Pro1211Leu)
c.3551C>T (p.Pro1184Leu)
c.3482C>T (p.Pro1161Leu)
c.3350C>T (p.Pro1117Leu)
c.3218C>T (p.Pro1073Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436084A>CCA510467172ASXL1c.3372A>C (p.Pro1124=)
c.3189A>C (p.Pro1063=)
n.5725A>C
c.1869+1503A>C (n.1869+1503A>C)
c.3357A>C (p.Pro1119=)
c.3369A>C (p.Pro1123=)
c.3342A>C (p.Pro1114=)
c.3288A>C (p.Pro1096=)
c.2688A>C (p.Pro896=)
c.3636A>C (p.Pro1212=)
c.3633A>C (p.Pro1211=)
c.3552A>C (p.Pro1184=)
c.3483A>C (p.Pro1161=)
c.3351A>C (p.Pro1117=)
c.3219A>C (p.Pro1073=)
20g.32436084A>GCA510467173ASXL1c.3372A>G (p.Pro1124=)
c.3189A>G (p.Pro1063=)
n.5725A>G
c.1869+1503A>G (n.1869+1503A>G)
c.3357A>G (p.Pro1119=)
c.3369A>G (p.Pro1123=)
c.3342A>G (p.Pro1114=)
c.3288A>G (p.Pro1096=)
c.2688A>G (p.Pro896=)
c.3636A>G (p.Pro1212=)
c.3633A>G (p.Pro1211=)
c.3552A>G (p.Pro1184=)
c.3483A>G (p.Pro1161=)
c.3351A>G (p.Pro1117=)
c.3219A>G (p.Pro1073=)
20g.32436084A>TCA510467174ASXL1c.3372A>T (p.Pro1124=)
c.3189A>T (p.Pro1063=)
n.5725A>T
c.1869+1503A>T (n.1869+1503A>T)
c.3357A>T (p.Pro1119=)
c.3369A>T (p.Pro1123=)
c.3342A>T (p.Pro1114=)
c.3288A>T (p.Pro1096=)
c.2688A>T (p.Pro896=)
c.3636A>T (p.Pro1212=)
c.3633A>T (p.Pro1211=)
c.3552A>T (p.Pro1184=)
c.3483A>T (p.Pro1161=)
c.3351A>T (p.Pro1117=)
c.3219A>T (p.Pro1073=)
20g.32436085G>ACA408562920ASXL1c.3373G>A (p.Ala1125Thr)
c.3190G>A (p.Ala1064Thr)
n.5726G>A
c.1869+1504G>A (n.1869+1504G>A)
c.3358G>A (p.Ala1120Thr)
c.3370G>A (p.Ala1124Thr)
c.3343G>A (p.Ala1115Thr)
c.3289G>A (p.Ala1097Thr)
c.2689G>A (p.Ala897Thr)
c.3637G>A (p.Ala1213Thr)
c.3634G>A (p.Ala1212Thr)
c.3553G>A (p.Ala1185Thr)
c.3484G>A (p.Ala1162Thr)
c.3352G>A (p.Ala1118Thr)
c.3220G>A (p.Ala1074Thr)
 dbSNP
20g.32436085G>CCA408562921ASXL1c.3373G>C (p.Ala1125Pro)
c.3190G>C (p.Ala1064Pro)
n.5726G>C
c.1869+1504G>C (n.1869+1504G>C)
c.3358G>C (p.Ala1120Pro)
c.3370G>C (p.Ala1124Pro)
c.3343G>C (p.Ala1115Pro)
c.3289G>C (p.Ala1097Pro)
c.2689G>C (p.Ala897Pro)
c.3637G>C (p.Ala1213Pro)
c.3634G>C (p.Ala1212Pro)
c.3553G>C (p.Ala1185Pro)
c.3484G>C (p.Ala1162Pro)
c.3352G>C (p.Ala1118Pro)
c.3220G>C (p.Ala1074Pro)
 dbSNP
20g.32436085G>TCA408562922ASXL1c.3373G>T (p.Ala1125Ser)
c.3190G>T (p.Ala1064Ser)
n.5726G>T
c.1869+1504G>T (n.1869+1504G>T)
c.3358G>T (p.Ala1120Ser)
c.3370G>T (p.Ala1124Ser)
c.3343G>T (p.Ala1115Ser)
c.3289G>T (p.Ala1097Ser)
c.2689G>T (p.Ala897Ser)
c.3637G>T (p.Ala1213Ser)
c.3634G>T (p.Ala1212Ser)
c.3553G>T (p.Ala1185Ser)
c.3484G>T (p.Ala1162Ser)
c.3352G>T (p.Ala1118Ser)
c.3220G>T (p.Ala1074Ser)
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

Number of alleles fetched