Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32435888T>ACA408562511ASXL1c.3176T>A (p.Met1059Lys)
c.2993T>A (p.Met998Lys)
n.5529T>A
c.1869+1307T>A (n.1869+1307T>A)
c.3161T>A (p.Met1054Lys)
c.3173T>A (p.Met1058Lys)
c.3146T>A (p.Met1049Lys)
c.3092T>A (p.Met1031Lys)
c.2492T>A (p.Met831Lys)
c.3440T>A (p.Met1147Lys)
c.3437T>A (p.Met1146Lys)
c.3356T>A (p.Met1119Lys)
c.3287T>A (p.Met1096Lys)
c.3155T>A (p.Met1052Lys)
c.3023T>A (p.Met1008Lys)
20g.32435888T>CCA408562512ASXL1c.3176T>C (p.Met1059Thr)
c.2993T>C (p.Met998Thr)
n.5529T>C
c.1869+1307T>C (n.1869+1307T>C)
c.3161T>C (p.Met1054Thr)
c.3173T>C (p.Met1058Thr)
c.3146T>C (p.Met1049Thr)
c.3092T>C (p.Met1031Thr)
c.2492T>C (p.Met831Thr)
c.3440T>C (p.Met1147Thr)
c.3437T>C (p.Met1146Thr)
c.3356T>C (p.Met1119Thr)
c.3287T>C (p.Met1096Thr)
c.3155T>C (p.Met1052Thr)
c.3023T>C (p.Met1008Thr)
20g.32435888T>GCA408562513ASXL1c.3176T>G (p.Met1059Arg)
c.2993T>G (p.Met998Arg)
n.5529T>G
c.1869+1307T>G (n.1869+1307T>G)
c.3161T>G (p.Met1054Arg)
c.3173T>G (p.Met1058Arg)
c.3146T>G (p.Met1049Arg)
c.3092T>G (p.Met1031Arg)
c.2492T>G (p.Met831Arg)
c.3440T>G (p.Met1147Arg)
c.3437T>G (p.Met1146Arg)
c.3356T>G (p.Met1119Arg)
c.3287T>G (p.Met1096Arg)
c.3155T>G (p.Met1052Arg)
c.3023T>G (p.Met1008Arg)
20g.32435889G>ACA408562514ASXL1c.3177G>A (p.Met1059Ile)
c.2994G>A (p.Met998Ile)
n.5530G>A
c.1869+1308G>A (n.1869+1308G>A)
c.3162G>A (p.Met1054Ile)
c.3174G>A (p.Met1058Ile)
c.3147G>A (p.Met1049Ile)
c.3093G>A (p.Met1031Ile)
c.2493G>A (p.Met831Ile)
c.3441G>A (p.Met1147Ile)
c.3438G>A (p.Met1146Ile)
c.3357G>A (p.Met1119Ile)
c.3288G>A (p.Met1096Ile)
c.3156G>A (p.Met1052Ile)
c.3024G>A (p.Met1008Ile)
20g.32435889G>CCA408562515ASXL1c.3177G>C (p.Met1059Ile)
c.2994G>C (p.Met998Ile)
n.5530G>C
c.1869+1308G>C (n.1869+1308G>C)
c.3162G>C (p.Met1054Ile)
c.3174G>C (p.Met1058Ile)
c.3147G>C (p.Met1049Ile)
c.3093G>C (p.Met1031Ile)
c.2493G>C (p.Met831Ile)
c.3441G>C (p.Met1147Ile)
c.3438G>C (p.Met1146Ile)
c.3357G>C (p.Met1119Ile)
c.3288G>C (p.Met1096Ile)
c.3156G>C (p.Met1052Ile)
c.3024G>C (p.Met1008Ile)
 gnomAD v4
20g.32435889G>TCA408562516ASXL1c.3177G>T (p.Met1059Ile)
c.2994G>T (p.Met998Ile)
n.5530G>T
c.1869+1308G>T (n.1869+1308G>T)
c.3162G>T (p.Met1054Ile)
c.3174G>T (p.Met1058Ile)
c.3147G>T (p.Met1049Ile)
c.3093G>T (p.Met1031Ile)
c.2493G>T (p.Met831Ile)
c.3441G>T (p.Met1147Ile)
c.3438G>T (p.Met1146Ile)
c.3357G>T (p.Met1119Ile)
c.3288G>T (p.Met1096Ile)
c.3156G>T (p.Met1052Ile)
c.3024G>T (p.Met1008Ile)
 gnomAD v4
20g.32435890G>ACA9808771ASXL1c.3178G>A (p.Val1060Ile)
c.2995G>A (p.Val999Ile)
n.5531G>A
c.1869+1309G>A (n.1869+1309G>A)
c.3163G>A (p.Val1055Ile)
c.3175G>A (p.Val1059Ile)
c.3148G>A (p.Val1050Ile)
c.3094G>A (p.Val1032Ile)
c.2494G>A (p.Val832Ile)
c.3442G>A (p.Val1148Ile)
c.3439G>A (p.Val1147Ile)
c.3358G>A (p.Val1120Ile)
c.3289G>A (p.Val1097Ile)
c.3157G>A (p.Val1053Ile)
c.3025G>A (p.Val1009Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435890G>CCA408562517ASXL1c.3178G>C (p.Val1060Leu)
c.2995G>C (p.Val999Leu)
n.5531G>C
c.1869+1309G>C (n.1869+1309G>C)
c.3163G>C (p.Val1055Leu)
c.3175G>C (p.Val1059Leu)
c.3148G>C (p.Val1050Leu)
c.3094G>C (p.Val1032Leu)
c.2494G>C (p.Val832Leu)
c.3442G>C (p.Val1148Leu)
c.3439G>C (p.Val1147Leu)
c.3358G>C (p.Val1120Leu)
c.3289G>C (p.Val1097Leu)
c.3157G>C (p.Val1053Leu)
c.3025G>C (p.Val1009Leu)
20g.32435890G=CA2360293445ASXL1c.3178G= (p.Val1060=)
c.2995G= (p.Val999=)
n.5531G=
c.1869+1309G= (n.1869+1309G=)
c.3163G= (p.Val1055=)
c.3175G= (p.Val1059=)
c.3148G= (p.Val1050=)
c.3094G= (p.Val1032=)
c.2494G= (p.Val832=)
c.3442G= (p.Val1148=)
c.3439G= (p.Val1147=)
c.3358G= (p.Val1120=)
c.3289G= (p.Val1097=)
c.3157G= (p.Val1053=)
c.3025G= (p.Val1009=)
20g.32435890G>TCA408562518ASXL1c.3178G>T (p.Val1060Phe)
c.2995G>T (p.Val999Phe)
n.5531G>T
c.1869+1309G>T (n.1869+1309G>T)
c.3163G>T (p.Val1055Phe)
c.3175G>T (p.Val1059Phe)
c.3148G>T (p.Val1050Phe)
c.3094G>T (p.Val1032Phe)
c.2494G>T (p.Val832Phe)
c.3442G>T (p.Val1148Phe)
c.3439G>T (p.Val1147Phe)
c.3358G>T (p.Val1120Phe)
c.3289G>T (p.Val1097Phe)
c.3157G>T (p.Val1053Phe)
c.3025G>T (p.Val1009Phe)
 dbSNP gnomAD v4
20g.32435891T>ACA408562519ASXL1c.3179T>A (p.Val1060Asp)
c.2996T>A (p.Val999Asp)
n.5532T>A
c.1869+1310T>A (n.1869+1310T>A)
c.3164T>A (p.Val1055Asp)
c.3176T>A (p.Val1059Asp)
c.3149T>A (p.Val1050Asp)
c.3095T>A (p.Val1032Asp)
c.2495T>A (p.Val832Asp)
c.3443T>A (p.Val1148Asp)
c.3440T>A (p.Val1147Asp)
c.3359T>A (p.Val1120Asp)
c.3290T>A (p.Val1097Asp)
c.3158T>A (p.Val1053Asp)
c.3026T>A (p.Val1009Asp)
 COSMIC
20g.32435891T>CCA408562520ASXL1c.3179T>C (p.Val1060Ala)
c.2996T>C (p.Val999Ala)
n.5532T>C
c.1869+1310T>C (n.1869+1310T>C)
c.3164T>C (p.Val1055Ala)
c.3176T>C (p.Val1059Ala)
c.3149T>C (p.Val1050Ala)
c.3095T>C (p.Val1032Ala)
c.2495T>C (p.Val832Ala)
c.3443T>C (p.Val1148Ala)
c.3440T>C (p.Val1147Ala)
c.3359T>C (p.Val1120Ala)
c.3290T>C (p.Val1097Ala)
c.3158T>C (p.Val1053Ala)
c.3026T>C (p.Val1009Ala)
 dbSNP
20g.32435891T>GCA408562521ASXL1c.3179T>G (p.Val1060Gly)
c.2996T>G (p.Val999Gly)
n.5532T>G
c.1869+1310T>G (n.1869+1310T>G)
c.3164T>G (p.Val1055Gly)
c.3176T>G (p.Val1059Gly)
c.3149T>G (p.Val1050Gly)
c.3095T>G (p.Val1032Gly)
c.2495T>G (p.Val832Gly)
c.3443T>G (p.Val1148Gly)
c.3440T>G (p.Val1147Gly)
c.3359T>G (p.Val1120Gly)
c.3290T>G (p.Val1097Gly)
c.3158T>G (p.Val1053Gly)
c.3026T>G (p.Val1009Gly)
20g.32435891T=CA2360293446ASXL1c.3179T= (p.Val1060=)
c.2996T= (p.Val999=)
n.5532T=
c.1869+1310T= (n.1869+1310T=)
c.3164T= (p.Val1055=)
c.3176T= (p.Val1059=)
c.3149T= (p.Val1050=)
c.3095T= (p.Val1032=)
c.2495T= (p.Val832=)
c.3443T= (p.Val1148=)
c.3440T= (p.Val1147=)
c.3359T= (p.Val1120=)
c.3290T= (p.Val1097=)
c.3158T= (p.Val1053=)
c.3026T= (p.Val1009=)
20g.32435892T>ACA510467039ASXL1c.3180T>A (p.Val1060=)
c.2997T>A (p.Val999=)
n.5533T>A
c.1869+1311T>A (n.1869+1311T>A)
c.3165T>A (p.Val1055=)
c.3177T>A (p.Val1059=)
c.3150T>A (p.Val1050=)
c.3096T>A (p.Val1032=)
c.2496T>A (p.Val832=)
c.3444T>A (p.Val1148=)
c.3441T>A (p.Val1147=)
c.3360T>A (p.Val1120=)
c.3291T>A (p.Val1097=)
c.3159T>A (p.Val1053=)
c.3027T>A (p.Val1009=)
20g.32435892T>CCA510467040ASXL1c.3180T>C (p.Val1060=)
c.2997T>C (p.Val999=)
n.5533T>C
c.1869+1311T>C (n.1869+1311T>C)
c.3165T>C (p.Val1055=)
c.3177T>C (p.Val1059=)
c.3150T>C (p.Val1050=)
c.3096T>C (p.Val1032=)
c.2496T>C (p.Val832=)
c.3444T>C (p.Val1148=)
c.3441T>C (p.Val1147=)
c.3360T>C (p.Val1120=)
c.3291T>C (p.Val1097=)
c.3159T>C (p.Val1053=)
c.3027T>C (p.Val1009=)
20g.32435892T>GCA510467043ASXL1c.3180T>G (p.Val1060=)
c.2997T>G (p.Val999=)
n.5533T>G
c.1869+1311T>G (n.1869+1311T>G)
c.3165T>G (p.Val1055=)
c.3177T>G (p.Val1059=)
c.3150T>G (p.Val1050=)
c.3096T>G (p.Val1032=)
c.2496T>G (p.Val832=)
c.3444T>G (p.Val1148=)
c.3441T>G (p.Val1147=)
c.3360T>G (p.Val1120=)
c.3291T>G (p.Val1097=)
c.3159T>G (p.Val1053=)
c.3027T>G (p.Val1009=)
20g.32435893G>ACA408562524ASXL1c.3181G>A (p.Ala1061Thr)
c.2998G>A (p.Ala1000Thr)
n.5534G>A
c.1869+1312G>A (n.1869+1312G>A)
c.3166G>A (p.Ala1056Thr)
c.3178G>A (p.Ala1060Thr)
c.3151G>A (p.Ala1051Thr)
c.3097G>A (p.Ala1033Thr)
c.2497G>A (p.Ala833Thr)
c.3445G>A (p.Ala1149Thr)
c.3442G>A (p.Ala1148Thr)
c.3361G>A (p.Ala1121Thr)
c.3292G>A (p.Ala1098Thr)
c.3160G>A (p.Ala1054Thr)
c.3028G>A (p.Ala1010Thr)
 dbSNP
20g.32435893G>CCA408562522ASXL1c.3181G>C (p.Ala1061Pro)
c.2998G>C (p.Ala1000Pro)
n.5534G>C
c.1869+1312G>C (n.1869+1312G>C)
c.3166G>C (p.Ala1056Pro)
c.3178G>C (p.Ala1060Pro)
c.3151G>C (p.Ala1051Pro)
c.3097G>C (p.Ala1033Pro)
c.2497G>C (p.Ala833Pro)
c.3445G>C (p.Ala1149Pro)
c.3442G>C (p.Ala1148Pro)
c.3361G>C (p.Ala1121Pro)
c.3292G>C (p.Ala1098Pro)
c.3160G>C (p.Ala1054Pro)
c.3028G>C (p.Ala1010Pro)
20g.32435893G>TCA408562523ASXL1c.3181G>T (p.Ala1061Ser)
c.2998G>T (p.Ala1000Ser)
n.5534G>T
c.1869+1312G>T (n.1869+1312G>T)
c.3166G>T (p.Ala1056Ser)
c.3178G>T (p.Ala1060Ser)
c.3151G>T (p.Ala1051Ser)
c.3097G>T (p.Ala1033Ser)
c.2497G>T (p.Ala833Ser)
c.3445G>T (p.Ala1149Ser)
c.3442G>T (p.Ala1148Ser)
c.3361G>T (p.Ala1121Ser)
c.3292G>T (p.Ala1098Ser)
c.3160G>T (p.Ala1054Ser)
c.3028G>T (p.Ala1010Ser)
20g.32435894C>ACA408562525ASXL1c.3182C>A (p.Ala1061Asp)
c.2999C>A (p.Ala1000Asp)
n.5535C>A
c.1869+1313C>A (n.1869+1313C>A)
c.3167C>A (p.Ala1056Asp)
c.3179C>A (p.Ala1060Asp)
c.3152C>A (p.Ala1051Asp)
c.3098C>A (p.Ala1033Asp)
c.2498C>A (p.Ala833Asp)
c.3446C>A (p.Ala1149Asp)
c.3443C>A (p.Ala1148Asp)
c.3362C>A (p.Ala1121Asp)
c.3293C>A (p.Ala1098Asp)
c.3161C>A (p.Ala1054Asp)
c.3029C>A (p.Ala1010Asp)
20g.32435894C>GCA408562526ASXL1c.3182C>G (p.Ala1061Gly)
c.2999C>G (p.Ala1000Gly)
n.5535C>G
c.1869+1313C>G (n.1869+1313C>G)
c.3167C>G (p.Ala1056Gly)
c.3179C>G (p.Ala1060Gly)
c.3152C>G (p.Ala1051Gly)
c.3098C>G (p.Ala1033Gly)
c.2498C>G (p.Ala833Gly)
c.3446C>G (p.Ala1149Gly)
c.3443C>G (p.Ala1148Gly)
c.3362C>G (p.Ala1121Gly)
c.3293C>G (p.Ala1098Gly)
c.3161C>G (p.Ala1054Gly)
c.3029C>G (p.Ala1010Gly)
20g.32435894C>TCA408562527ASXL1c.3182C>T (p.Ala1061Val)
c.2999C>T (p.Ala1000Val)
n.5535C>T
c.1869+1313C>T (n.1869+1313C>T)
c.3167C>T (p.Ala1056Val)
c.3179C>T (p.Ala1060Val)
c.3152C>T (p.Ala1051Val)
c.3098C>T (p.Ala1033Val)
c.2498C>T (p.Ala833Val)
c.3446C>T (p.Ala1149Val)
c.3443C>T (p.Ala1148Val)
c.3362C>T (p.Ala1121Val)
c.3293C>T (p.Ala1098Val)
c.3161C>T (p.Ala1054Val)
c.3029C>T (p.Ala1010Val)
 dbSNP gnomAD v4
20g.32435895T>ACA510467046ASXL1c.3183T>A (p.Ala1061=)
c.3000T>A (p.Ala1000=)
n.5536T>A
c.1869+1314T>A (n.1869+1314T>A)
c.3168T>A (p.Ala1056=)
c.3180T>A (p.Ala1060=)
c.3153T>A (p.Ala1051=)
c.3099T>A (p.Ala1033=)
c.2499T>A (p.Ala833=)
c.3447T>A (p.Ala1149=)
c.3444T>A (p.Ala1148=)
c.3363T>A (p.Ala1121=)
c.3294T>A (p.Ala1098=)
c.3162T>A (p.Ala1054=)
c.3030T>A (p.Ala1010=)
20g.32435895T>CCA510467047ASXL1c.3183T>C (p.Ala1061=)
c.3000T>C (p.Ala1000=)
n.5536T>C
c.1869+1314T>C (n.1869+1314T>C)
c.3168T>C (p.Ala1056=)
c.3180T>C (p.Ala1060=)
c.3153T>C (p.Ala1051=)
c.3099T>C (p.Ala1033=)
c.2499T>C (p.Ala833=)
c.3447T>C (p.Ala1149=)
c.3444T>C (p.Ala1148=)
c.3363T>C (p.Ala1121=)
c.3294T>C (p.Ala1098=)
c.3162T>C (p.Ala1054=)
c.3030T>C (p.Ala1010=)
20g.32435895T>GCA510467048ASXL1c.3183T>G (p.Ala1061=)
c.3000T>G (p.Ala1000=)
n.5536T>G
c.1869+1314T>G (n.1869+1314T>G)
c.3168T>G (p.Ala1056=)
c.3180T>G (p.Ala1060=)
c.3153T>G (p.Ala1051=)
c.3099T>G (p.Ala1033=)
c.2499T>G (p.Ala833=)
c.3447T>G (p.Ala1149=)
c.3444T>G (p.Ala1148=)
c.3363T>G (p.Ala1121=)
c.3294T>G (p.Ala1098=)
c.3162T>G (p.Ala1054=)
c.3030T>G (p.Ala1010=)
20g.32435896C>ACA408562528ASXL1c.3184C>A (p.Pro1062Thr)
c.3001C>A (p.Pro1001Thr)
n.5537C>A
c.1869+1315C>A (n.1869+1315C>A)
c.3169C>A (p.Pro1057Thr)
c.3181C>A (p.Pro1061Thr)
c.3154C>A (p.Pro1052Thr)
c.3100C>A (p.Pro1034Thr)
c.2500C>A (p.Pro834Thr)
c.3448C>A (p.Pro1150Thr)
c.3445C>A (p.Pro1149Thr)
c.3364C>A (p.Pro1122Thr)
c.3295C>A (p.Pro1099Thr)
c.3163C>A (p.Pro1055Thr)
c.3031C>A (p.Pro1011Thr)
20g.32435896C=CA2360293447ASXL1c.3184C= (p.Pro1062=)
c.3001C= (p.Pro1001=)
n.5537C=
c.1869+1315C= (n.1869+1315C=)
c.3169C= (p.Pro1057=)
c.3181C= (p.Pro1061=)
c.3154C= (p.Pro1052=)
c.3100C= (p.Pro1034=)
c.2500C= (p.Pro834=)
c.3448C= (p.Pro1150=)
c.3445C= (p.Pro1149=)
c.3364C= (p.Pro1122=)
c.3295C= (p.Pro1099=)
c.3163C= (p.Pro1055=)
c.3031C= (p.Pro1011=)
20g.32435896C>GCA408562529ASXL1c.3184C>G (p.Pro1062Ala)
c.3001C>G (p.Pro1001Ala)
n.5537C>G
c.1869+1315C>G (n.1869+1315C>G)
c.3169C>G (p.Pro1057Ala)
c.3181C>G (p.Pro1061Ala)
c.3154C>G (p.Pro1052Ala)
c.3100C>G (p.Pro1034Ala)
c.2500C>G (p.Pro834Ala)
c.3448C>G (p.Pro1150Ala)
c.3445C>G (p.Pro1149Ala)
c.3364C>G (p.Pro1122Ala)
c.3295C>G (p.Pro1099Ala)
c.3163C>G (p.Pro1055Ala)
c.3031C>G (p.Pro1011Ala)
20g.32435896C>TCA9808772ASXL1c.3184C>T (p.Pro1062Ser)
c.3001C>T (p.Pro1001Ser)
n.5537C>T
c.1869+1315C>T (n.1869+1315C>T)
c.3169C>T (p.Pro1057Ser)
c.3181C>T (p.Pro1061Ser)
c.3154C>T (p.Pro1052Ser)
c.3100C>T (p.Pro1034Ser)
c.2500C>T (p.Pro834Ser)
c.3448C>T (p.Pro1150Ser)
c.3445C>T (p.Pro1149Ser)
c.3364C>T (p.Pro1122Ser)
c.3295C>T (p.Pro1099Ser)
c.3163C>T (p.Pro1055Ser)
c.3031C>T (p.Pro1011Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32435897C>ACA408562530ASXL1c.3185C>A (p.Pro1062His)
c.3002C>A (p.Pro1001His)
n.5538C>A
c.1869+1316C>A (n.1869+1316C>A)
c.3170C>A (p.Pro1057His)
c.3182C>A (p.Pro1061His)
c.3155C>A (p.Pro1052His)
c.3101C>A (p.Pro1034His)
c.2501C>A (p.Pro834His)
c.3449C>A (p.Pro1150His)
c.3446C>A (p.Pro1149His)
c.3365C>A (p.Pro1122His)
c.3296C>A (p.Pro1099His)
c.3164C>A (p.Pro1055His)
c.3032C>A (p.Pro1011His)
20g.32435897C>GCA408562531ASXL1c.3185C>G (p.Pro1062Arg)
c.3002C>G (p.Pro1001Arg)
n.5538C>G
c.1869+1316C>G (n.1869+1316C>G)
c.3170C>G (p.Pro1057Arg)
c.3182C>G (p.Pro1061Arg)
c.3155C>G (p.Pro1052Arg)
c.3101C>G (p.Pro1034Arg)
c.2501C>G (p.Pro834Arg)
c.3449C>G (p.Pro1150Arg)
c.3446C>G (p.Pro1149Arg)
c.3365C>G (p.Pro1122Arg)
c.3296C>G (p.Pro1099Arg)
c.3164C>G (p.Pro1055Arg)
c.3032C>G (p.Pro1011Arg)
20g.32435897C>TCA408562532ASXL1c.3185C>T (p.Pro1062Leu)
c.3002C>T (p.Pro1001Leu)
n.5538C>T
c.1869+1316C>T (n.1869+1316C>T)
c.3170C>T (p.Pro1057Leu)
c.3182C>T (p.Pro1061Leu)
c.3155C>T (p.Pro1052Leu)
c.3101C>T (p.Pro1034Leu)
c.2501C>T (p.Pro834Leu)
c.3449C>T (p.Pro1150Leu)
c.3446C>T (p.Pro1149Leu)
c.3365C>T (p.Pro1122Leu)
c.3296C>T (p.Pro1099Leu)
c.3164C>T (p.Pro1055Leu)
c.3032C>T (p.Pro1011Leu)
20g.32435898T>ACA510467058ASXL1c.3186T>A (p.Pro1062=)
c.3003T>A (p.Pro1001=)
n.5539T>A
c.1869+1317T>A (n.1869+1317T>A)
c.3171T>A (p.Pro1057=)
c.3183T>A (p.Pro1061=)
c.3156T>A (p.Pro1052=)
c.3102T>A (p.Pro1034=)
c.2502T>A (p.Pro834=)
c.3450T>A (p.Pro1150=)
c.3447T>A (p.Pro1149=)
c.3366T>A (p.Pro1122=)
c.3297T>A (p.Pro1099=)
c.3165T>A (p.Pro1055=)
c.3033T>A (p.Pro1011=)
 dbSNP gnomAD v4
20g.32435898T>CCA510467057ASXL1c.3186T>C (p.Pro1062=)
c.3003T>C (p.Pro1001=)
n.5539T>C
c.1869+1317T>C (n.1869+1317T>C)
c.3171T>C (p.Pro1057=)
c.3183T>C (p.Pro1061=)
c.3156T>C (p.Pro1052=)
c.3102T>C (p.Pro1034=)
c.2502T>C (p.Pro834=)
c.3450T>C (p.Pro1150=)
c.3447T>C (p.Pro1149=)
c.3366T>C (p.Pro1122=)
c.3297T>C (p.Pro1099=)
c.3165T>C (p.Pro1055=)
c.3033T>C (p.Pro1011=)
20g.32435898T>GCA510467056ASXL1c.3186T>G (p.Pro1062=)
c.3003T>G (p.Pro1001=)
n.5539T>G
c.1869+1317T>G (n.1869+1317T>G)
c.3171T>G (p.Pro1057=)
c.3183T>G (p.Pro1061=)
c.3156T>G (p.Pro1052=)
c.3102T>G (p.Pro1034=)
c.2502T>G (p.Pro834=)
c.3450T>G (p.Pro1150=)
c.3447T>G (p.Pro1149=)
c.3366T>G (p.Pro1122=)
c.3297T>G (p.Pro1099=)
c.3165T>G (p.Pro1055=)
c.3033T>G (p.Pro1011=)
20g.32435899C>ACA408562533ASXL1c.3187C>A (p.Gln1063Lys)
c.3004C>A (p.Gln1002Lys)
n.5540C>A
c.1869+1318C>A (n.1869+1318C>A)
c.3172C>A (p.Gln1058Lys)
c.3184C>A (p.Gln1062Lys)
c.3157C>A (p.Gln1053Lys)
c.3103C>A (p.Gln1035Lys)
c.2503C>A (p.Gln835Lys)
c.3451C>A (p.Gln1151Lys)
c.3448C>A (p.Gln1150Lys)
c.3367C>A (p.Gln1123Lys)
c.3298C>A (p.Gln1100Lys)
c.3166C>A (p.Gln1056Lys)
c.3034C>A (p.Gln1012Lys)
20g.32435899C=CA2360293448ASXL1c.3187C= (p.Gln1063=)
c.3004C= (p.Gln1002=)
n.5540C=
c.1869+1318C= (n.1869+1318C=)
c.3172C= (p.Gln1058=)
c.3184C= (p.Gln1062=)
c.3157C= (p.Gln1053=)
c.3103C= (p.Gln1035=)
c.2503C= (p.Gln835=)
c.3451C= (p.Gln1151=)
c.3448C= (p.Gln1150=)
c.3367C= (p.Gln1123=)
c.3298C= (p.Gln1100=)
c.3166C= (p.Gln1056=)
c.3034C= (p.Gln1012=)
20g.32435899C>GCA408562534ASXL1c.3187C>G (p.Gln1063Glu)
c.3004C>G (p.Gln1002Glu)
n.5540C>G
c.1869+1318C>G (n.1869+1318C>G)
c.3172C>G (p.Gln1058Glu)
c.3184C>G (p.Gln1062Glu)
c.3157C>G (p.Gln1053Glu)
c.3103C>G (p.Gln1035Glu)
c.2503C>G (p.Gln835Glu)
c.3451C>G (p.Gln1151Glu)
c.3448C>G (p.Gln1150Glu)
c.3367C>G (p.Gln1123Glu)
c.3298C>G (p.Gln1100Glu)
c.3166C>G (p.Gln1056Glu)
c.3034C>G (p.Gln1012Glu)
 dbSNP
20g.32435899C>TCA408562535ASXL1c.3187C>T (p.Gln1063Ter)
c.3004C>T (p.Gln1002Ter)
n.5540C>T
c.1869+1318C>T (n.1869+1318C>T)
c.3172C>T (p.Gln1058Ter)
c.3184C>T (p.Gln1062Ter)
c.3157C>T (p.Gln1053Ter)
c.3103C>T (p.Gln1035Ter)
c.2503C>T (p.Gln835Ter)
c.3451C>T (p.Gln1151Ter)
c.3448C>T (p.Gln1150Ter)
c.3367C>T (p.Gln1123Ter)
c.3298C>T (p.Gln1100Ter)
c.3166C>T (p.Gln1056Ter)
c.3034C>T (p.Gln1012Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32435900A=CA2360293449ASXL1c.3188A= (p.Gln1063=)
c.3005A= (p.Gln1002=)
n.5541A=
c.1869+1319A= (n.1869+1319A=)
c.3173A= (p.Gln1058=)
c.3185A= (p.Gln1062=)
c.3158A= (p.Gln1053=)
c.3104A= (p.Gln1035=)
c.2504A= (p.Gln835=)
c.3452A= (p.Gln1151=)
c.3449A= (p.Gln1150=)
c.3368A= (p.Gln1123=)
c.3299A= (p.Gln1100=)
c.3167A= (p.Gln1056=)
c.3035A= (p.Gln1012=)
20g.32435900A>CCA408562537ASXL1c.3188A>C (p.Gln1063Pro)
c.3005A>C (p.Gln1002Pro)
n.5541A>C
c.1869+1319A>C (n.1869+1319A>C)
c.3173A>C (p.Gln1058Pro)
c.3185A>C (p.Gln1062Pro)
c.3158A>C (p.Gln1053Pro)
c.3104A>C (p.Gln1035Pro)
c.2504A>C (p.Gln835Pro)
c.3452A>C (p.Gln1151Pro)
c.3449A>C (p.Gln1150Pro)
c.3368A>C (p.Gln1123Pro)
c.3299A>C (p.Gln1100Pro)
c.3167A>C (p.Gln1056Pro)
c.3035A>C (p.Gln1012Pro)
20g.32435900A>GCA313926340ASXL1c.3188A>G (p.Gln1063Arg)
c.3005A>G (p.Gln1002Arg)
n.5541A>G
c.1869+1319A>G (n.1869+1319A>G)
c.3173A>G (p.Gln1058Arg)
c.3185A>G (p.Gln1062Arg)
c.3158A>G (p.Gln1053Arg)
c.3104A>G (p.Gln1035Arg)
c.2504A>G (p.Gln835Arg)
c.3452A>G (p.Gln1151Arg)
c.3449A>G (p.Gln1150Arg)
c.3368A>G (p.Gln1123Arg)
c.3299A>G (p.Gln1100Arg)
c.3167A>G (p.Gln1056Arg)
c.3035A>G (p.Gln1012Arg)
 dbSNP gnomAD v4
20g.32435900A>TCA408562536ASXL1c.3188A>T (p.Gln1063Leu)
c.3005A>T (p.Gln1002Leu)
n.5541A>T
c.1869+1319A>T (n.1869+1319A>T)
c.3173A>T (p.Gln1058Leu)
c.3185A>T (p.Gln1062Leu)
c.3158A>T (p.Gln1053Leu)
c.3104A>T (p.Gln1035Leu)
c.2504A>T (p.Gln835Leu)
c.3452A>T (p.Gln1151Leu)
c.3449A>T (p.Gln1150Leu)
c.3368A>T (p.Gln1123Leu)
c.3299A>T (p.Gln1100Leu)
c.3167A>T (p.Gln1056Leu)
c.3035A>T (p.Gln1012Leu)
20g.32435900dupCA645612963ASXL1c.3188dup (p.Ser1064GlufsTer23)
c.3005dup (p.Ser1003GlufsTer23)
n.5541dup
c.1869+1319dup (n.1869+1319dup)
c.3173dup (p.Ser1059GlufsTer23)
c.3185dup (p.Ser1063GlufsTer23)
c.3158dup (p.Ser1054GlufsTer23)
c.3104dup (p.Ser1036GlufsTer23)
c.2504dup (p.Ser836GlufsTer23)
c.3452dup (p.Ser1152GlufsTer23)
c.3449dup (p.Ser1151GlufsTer23)
c.3368dup (p.Ser1124GlufsTer23)
c.3299dup (p.Ser1101GlufsTer23)
c.3167dup (p.Ser1057GlufsTer23)
c.3035dup (p.Ser1013GlufsTer23)
 COSMIC COSMIC
20g.32435901G>ACA510467060ASXL1c.3189G>A (p.Gln1063=)
c.3006G>A (p.Gln1002=)
n.5542G>A
c.1869+1320G>A (n.1869+1320G>A)
c.3174G>A (p.Gln1058=)
c.3186G>A (p.Gln1062=)
c.3159G>A (p.Gln1053=)
c.3105G>A (p.Gln1035=)
c.2505G>A (p.Gln835=)
c.3453G>A (p.Gln1151=)
c.3450G>A (p.Gln1150=)
c.3369G>A (p.Gln1123=)
c.3300G>A (p.Gln1100=)
c.3168G>A (p.Gln1056=)
c.3036G>A (p.Gln1012=)
20g.32435901G>CCA408562539ASXL1c.3189G>C (p.Gln1063His)
c.3006G>C (p.Gln1002His)
n.5542G>C
c.1869+1320G>C (n.1869+1320G>C)
c.3174G>C (p.Gln1058His)
c.3186G>C (p.Gln1062His)
c.3159G>C (p.Gln1053His)
c.3105G>C (p.Gln1035His)
c.2505G>C (p.Gln835His)
c.3453G>C (p.Gln1151His)
c.3450G>C (p.Gln1150His)
c.3369G>C (p.Gln1123His)
c.3300G>C (p.Gln1100His)
c.3168G>C (p.Gln1056His)
c.3036G>C (p.Gln1012His)
20g.32435901G>TCA408562538ASXL1c.3189G>T (p.Gln1063His)
c.3006G>T (p.Gln1002His)
n.5542G>T
c.1869+1320G>T (n.1869+1320G>T)
c.3174G>T (p.Gln1058His)
c.3186G>T (p.Gln1062His)
c.3159G>T (p.Gln1053His)
c.3105G>T (p.Gln1035His)
c.2505G>T (p.Gln835His)
c.3453G>T (p.Gln1151His)
c.3450G>T (p.Gln1150His)
c.3369G>T (p.Gln1123His)
c.3300G>T (p.Gln1100His)
c.3168G>T (p.Gln1056His)
c.3036G>T (p.Gln1012His)
20g.32435902A>CCA408562540ASXL1c.3190A>C (p.Ser1064Arg)
c.3007A>C (p.Ser1003Arg)
n.5543A>C
c.1869+1321A>C (n.1869+1321A>C)
c.3175A>C (p.Ser1059Arg)
c.3187A>C (p.Ser1063Arg)
c.3160A>C (p.Ser1054Arg)
c.3106A>C (p.Ser1036Arg)
c.2506A>C (p.Ser836Arg)
c.3454A>C (p.Ser1152Arg)
c.3451A>C (p.Ser1151Arg)
c.3370A>C (p.Ser1124Arg)
c.3301A>C (p.Ser1101Arg)
c.3169A>C (p.Ser1057Arg)
c.3037A>C (p.Ser1013Arg)
20g.32435902A>GCA408562541ASXL1c.3190A>G (p.Ser1064Gly)
c.3007A>G (p.Ser1003Gly)
n.5543A>G
c.1869+1321A>G (n.1869+1321A>G)
c.3175A>G (p.Ser1059Gly)
c.3187A>G (p.Ser1063Gly)
c.3160A>G (p.Ser1054Gly)
c.3106A>G (p.Ser1036Gly)
c.2506A>G (p.Ser836Gly)
c.3454A>G (p.Ser1152Gly)
c.3451A>G (p.Ser1151Gly)
c.3370A>G (p.Ser1124Gly)
c.3301A>G (p.Ser1101Gly)
c.3169A>G (p.Ser1057Gly)
c.3037A>G (p.Ser1013Gly)
 gnomAD v4
20g.32435902A>TCA408562542ASXL1c.3190A>T (p.Ser1064Cys)
c.3007A>T (p.Ser1003Cys)
n.5543A>T
c.1869+1321A>T (n.1869+1321A>T)
c.3175A>T (p.Ser1059Cys)
c.3187A>T (p.Ser1063Cys)
c.3160A>T (p.Ser1054Cys)
c.3106A>T (p.Ser1036Cys)
c.2506A>T (p.Ser836Cys)
c.3454A>T (p.Ser1152Cys)
c.3451A>T (p.Ser1151Cys)
c.3370A>T (p.Ser1124Cys)
c.3301A>T (p.Ser1101Cys)
c.3169A>T (p.Ser1057Cys)
c.3037A>T (p.Ser1013Cys)
20g.32435903G>ACA408562543ASXL1c.3191G>A (p.Ser1064Asn)
c.3008G>A (p.Ser1003Asn)
n.5544G>A
c.1869+1322G>A (n.1869+1322G>A)
c.3176G>A (p.Ser1059Asn)
c.3188G>A (p.Ser1063Asn)
c.3161G>A (p.Ser1054Asn)
c.3107G>A (p.Ser1036Asn)
c.2507G>A (p.Ser836Asn)
c.3455G>A (p.Ser1152Asn)
c.3452G>A (p.Ser1151Asn)
c.3371G>A (p.Ser1124Asn)
c.3302G>A (p.Ser1101Asn)
c.3170G>A (p.Ser1057Asn)
c.3038G>A (p.Ser1013Asn)
20g.32435903G>CCA408562544ASXL1c.3191G>C (p.Ser1064Thr)
c.3008G>C (p.Ser1003Thr)
n.5544G>C
c.1869+1322G>C (n.1869+1322G>C)
c.3176G>C (p.Ser1059Thr)
c.3188G>C (p.Ser1063Thr)
c.3161G>C (p.Ser1054Thr)
c.3107G>C (p.Ser1036Thr)
c.2507G>C (p.Ser836Thr)
c.3455G>C (p.Ser1152Thr)
c.3452G>C (p.Ser1151Thr)
c.3371G>C (p.Ser1124Thr)
c.3302G>C (p.Ser1101Thr)
c.3170G>C (p.Ser1057Thr)
c.3038G>C (p.Ser1013Thr)
20g.32435903G>TCA408562545ASXL1c.3191G>T (p.Ser1064Ile)
c.3008G>T (p.Ser1003Ile)
n.5544G>T
c.1869+1322G>T (n.1869+1322G>T)
c.3176G>T (p.Ser1059Ile)
c.3188G>T (p.Ser1063Ile)
c.3161G>T (p.Ser1054Ile)
c.3107G>T (p.Ser1036Ile)
c.2507G>T (p.Ser836Ile)
c.3455G>T (p.Ser1152Ile)
c.3452G>T (p.Ser1151Ile)
c.3371G>T (p.Ser1124Ile)
c.3302G>T (p.Ser1101Ile)
c.3170G>T (p.Ser1057Ile)
c.3038G>T (p.Ser1013Ile)
20g.32435904C>ACA408562546ASXL1c.3192C>A (p.Ser1064Arg)
c.3009C>A (p.Ser1003Arg)
n.5545C>A
c.1869+1323C>A (n.1869+1323C>A)
c.3177C>A (p.Ser1059Arg)
c.3189C>A (p.Ser1063Arg)
c.3162C>A (p.Ser1054Arg)
c.3108C>A (p.Ser1036Arg)
c.2508C>A (p.Ser836Arg)
c.3456C>A (p.Ser1152Arg)
c.3453C>A (p.Ser1151Arg)
c.3372C>A (p.Ser1124Arg)
c.3303C>A (p.Ser1101Arg)
c.3171C>A (p.Ser1057Arg)
c.3039C>A (p.Ser1013Arg)
 gnomAD v4
20g.32435904C>GCA408562547ASXL1c.3192C>G (p.Ser1064Arg)
c.3009C>G (p.Ser1003Arg)
n.5545C>G
c.1869+1323C>G (n.1869+1323C>G)
c.3177C>G (p.Ser1059Arg)
c.3189C>G (p.Ser1063Arg)
c.3162C>G (p.Ser1054Arg)
c.3108C>G (p.Ser1036Arg)
c.2508C>G (p.Ser836Arg)
c.3456C>G (p.Ser1152Arg)
c.3453C>G (p.Ser1151Arg)
c.3372C>G (p.Ser1124Arg)
c.3303C>G (p.Ser1101Arg)
c.3171C>G (p.Ser1057Arg)
c.3039C>G (p.Ser1013Arg)
20g.32435904C>TCA510467062ASXL1c.3192C>T (p.Ser1064=)
c.3009C>T (p.Ser1003=)
n.5545C>T
c.1869+1323C>T (n.1869+1323C>T)
c.3177C>T (p.Ser1059=)
c.3189C>T (p.Ser1063=)
c.3162C>T (p.Ser1054=)
c.3108C>T (p.Ser1036=)
c.2508C>T (p.Ser836=)
c.3456C>T (p.Ser1152=)
c.3453C>T (p.Ser1151=)
c.3372C>T (p.Ser1124=)
c.3303C>T (p.Ser1101=)
c.3171C>T (p.Ser1057=)
c.3039C>T (p.Ser1013=)
 dbSNP gnomAD v4
20g.32435905T>ACA408562548ASXL1c.3193T>A (p.Trp1065Arg)
c.3010T>A (p.Trp1004Arg)
n.5546T>A
c.1869+1324T>A (n.1869+1324T>A)
c.3178T>A (p.Trp1060Arg)
c.3190T>A (p.Trp1064Arg)
c.3163T>A (p.Trp1055Arg)
c.3109T>A (p.Trp1037Arg)
c.2509T>A (p.Trp837Arg)
c.3457T>A (p.Trp1153Arg)
c.3454T>A (p.Trp1152Arg)
c.3373T>A (p.Trp1125Arg)
c.3304T>A (p.Trp1102Arg)
c.3172T>A (p.Trp1058Arg)
c.3040T>A (p.Trp1014Arg)
20g.32435905T>CCA408562549ASXL1c.3193T>C (p.Trp1065Arg)
c.3010T>C (p.Trp1004Arg)
n.5546T>C
c.1869+1324T>C (n.1869+1324T>C)
c.3178T>C (p.Trp1060Arg)
c.3190T>C (p.Trp1064Arg)
c.3163T>C (p.Trp1055Arg)
c.3109T>C (p.Trp1037Arg)
c.2509T>C (p.Trp837Arg)
c.3457T>C (p.Trp1153Arg)
c.3454T>C (p.Trp1152Arg)
c.3373T>C (p.Trp1125Arg)
c.3304T>C (p.Trp1102Arg)
c.3172T>C (p.Trp1058Arg)
c.3040T>C (p.Trp1014Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.32435905T>GCA408562550ASXL1c.3193T>G (p.Trp1065Gly)
c.3010T>G (p.Trp1004Gly)
n.5546T>G
c.1869+1324T>G (n.1869+1324T>G)
c.3178T>G (p.Trp1060Gly)
c.3190T>G (p.Trp1064Gly)
c.3163T>G (p.Trp1055Gly)
c.3109T>G (p.Trp1037Gly)
c.2509T>G (p.Trp837Gly)
c.3457T>G (p.Trp1153Gly)
c.3454T>G (p.Trp1152Gly)
c.3373T>G (p.Trp1125Gly)
c.3304T>G (p.Trp1102Gly)
c.3172T>G (p.Trp1058Gly)
c.3040T>G (p.Trp1014Gly)
20g.32435905T=CA2360293450ASXL1c.3193T= (p.Trp1065=)
c.3010T= (p.Trp1004=)
n.5546T=
c.1869+1324T= (n.1869+1324T=)
c.3178T= (p.Trp1060=)
c.3190T= (p.Trp1064=)
c.3163T= (p.Trp1055=)
c.3109T= (p.Trp1037=)
c.2509T= (p.Trp837=)
c.3457T= (p.Trp1153=)
c.3454T= (p.Trp1152=)
c.3373T= (p.Trp1125=)
c.3304T= (p.Trp1102=)
c.3172T= (p.Trp1058=)
c.3040T= (p.Trp1014=)
20g.32435906G>ACA408562553ASXL1c.3194G>A (p.Trp1065Ter)
c.3011G>A (p.Trp1004Ter)
n.5547G>A
c.1869+1325G>A (n.1869+1325G>A)
c.3179G>A (p.Trp1060Ter)
c.3191G>A (p.Trp1064Ter)
c.3164G>A (p.Trp1055Ter)
c.3110G>A (p.Trp1037Ter)
c.2510G>A (p.Trp837Ter)
c.3458G>A (p.Trp1153Ter)
c.3455G>A (p.Trp1152Ter)
c.3374G>A (p.Trp1125Ter)
c.3305G>A (p.Trp1102Ter)
c.3173G>A (p.Trp1058Ter)
c.3041G>A (p.Trp1014Ter)
 ClinVar dbSNP gnomAD v4
20g.32435906G>CCA408562551ASXL1c.3194G>C (p.Trp1065Ser)
c.3011G>C (p.Trp1004Ser)
n.5547G>C
c.1869+1325G>C (n.1869+1325G>C)
c.3179G>C (p.Trp1060Ser)
c.3191G>C (p.Trp1064Ser)
c.3164G>C (p.Trp1055Ser)
c.3110G>C (p.Trp1037Ser)
c.2510G>C (p.Trp837Ser)
c.3458G>C (p.Trp1153Ser)
c.3455G>C (p.Trp1152Ser)
c.3374G>C (p.Trp1125Ser)
c.3305G>C (p.Trp1102Ser)
c.3173G>C (p.Trp1058Ser)
c.3041G>C (p.Trp1014Ser)
20g.32435906G>TCA408562552ASXL1c.3194G>T (p.Trp1065Leu)
c.3011G>T (p.Trp1004Leu)
n.5547G>T
c.1869+1325G>T (n.1869+1325G>T)
c.3179G>T (p.Trp1060Leu)
c.3191G>T (p.Trp1064Leu)
c.3164G>T (p.Trp1055Leu)
c.3110G>T (p.Trp1037Leu)
c.2510G>T (p.Trp837Leu)
c.3458G>T (p.Trp1153Leu)
c.3455G>T (p.Trp1152Leu)
c.3374G>T (p.Trp1125Leu)
c.3305G>T (p.Trp1102Leu)
c.3173G>T (p.Trp1058Leu)
c.3041G>T (p.Trp1014Leu)
20g.32435907G>ACA408562554ASXL1c.3195G>A (p.Trp1065Ter)
c.3012G>A (p.Trp1004Ter)
n.5548G>A
c.1869+1326G>A (n.1869+1326G>A)
c.3180G>A (p.Trp1060Ter)
c.3192G>A (p.Trp1064Ter)
c.3165G>A (p.Trp1055Ter)
c.3111G>A (p.Trp1037Ter)
c.2511G>A (p.Trp837Ter)
c.3459G>A (p.Trp1153Ter)
c.3456G>A (p.Trp1152Ter)
c.3375G>A (p.Trp1125Ter)
c.3306G>A (p.Trp1102Ter)
c.3174G>A (p.Trp1058Ter)
c.3042G>A (p.Trp1014Ter)
 COSMIC COSMIC
20g.32435907G>CCA408562555ASXL1c.3195G>C (p.Trp1065Cys)
c.3012G>C (p.Trp1004Cys)
n.5548G>C
c.1869+1326G>C (n.1869+1326G>C)
c.3180G>C (p.Trp1060Cys)
c.3192G>C (p.Trp1064Cys)
c.3165G>C (p.Trp1055Cys)
c.3111G>C (p.Trp1037Cys)
c.2511G>C (p.Trp837Cys)
c.3459G>C (p.Trp1153Cys)
c.3456G>C (p.Trp1152Cys)
c.3375G>C (p.Trp1125Cys)
c.3306G>C (p.Trp1102Cys)
c.3174G>C (p.Trp1058Cys)
c.3042G>C (p.Trp1014Cys)
20g.32435907G>TCA408562556ASXL1c.3195G>T (p.Trp1065Cys)
c.3012G>T (p.Trp1004Cys)
n.5548G>T
c.1869+1326G>T (n.1869+1326G>T)
c.3180G>T (p.Trp1060Cys)
c.3192G>T (p.Trp1064Cys)
c.3165G>T (p.Trp1055Cys)
c.3111G>T (p.Trp1037Cys)
c.2511G>T (p.Trp837Cys)
c.3459G>T (p.Trp1153Cys)
c.3456G>T (p.Trp1152Cys)
c.3375G>T (p.Trp1125Cys)
c.3306G>T (p.Trp1102Cys)
c.3174G>T (p.Trp1058Cys)
c.3042G>T (p.Trp1014Cys)
20g.32435908G>ACA408562557ASXL1c.3196G>A (p.Val1066Met)
c.3013G>A (p.Val1005Met)
n.5549G>A
c.1869+1327G>A (n.1869+1327G>A)
c.3181G>A (p.Val1061Met)
c.3193G>A (p.Val1065Met)
c.3166G>A (p.Val1056Met)
c.3112G>A (p.Val1038Met)
c.2512G>A (p.Val838Met)
c.3460G>A (p.Val1154Met)
c.3457G>A (p.Val1153Met)
c.3376G>A (p.Val1126Met)
c.3307G>A (p.Val1103Met)
c.3175G>A (p.Val1059Met)
c.3043G>A (p.Val1015Met)
20g.32435908G>CCA408562558ASXL1c.3196G>C (p.Val1066Leu)
c.3013G>C (p.Val1005Leu)
n.5549G>C
c.1869+1327G>C (n.1869+1327G>C)
c.3181G>C (p.Val1061Leu)
c.3193G>C (p.Val1065Leu)
c.3166G>C (p.Val1056Leu)
c.3112G>C (p.Val1038Leu)
c.2512G>C (p.Val838Leu)
c.3460G>C (p.Val1154Leu)
c.3457G>C (p.Val1153Leu)
c.3376G>C (p.Val1126Leu)
c.3307G>C (p.Val1103Leu)
c.3175G>C (p.Val1059Leu)
c.3043G>C (p.Val1015Leu)
20g.32435908G>TCA408562559ASXL1c.3196G>T (p.Val1066Leu)
c.3013G>T (p.Val1005Leu)
n.5549G>T
c.1869+1327G>T (n.1869+1327G>T)
c.3181G>T (p.Val1061Leu)
c.3193G>T (p.Val1065Leu)
c.3166G>T (p.Val1056Leu)
c.3112G>T (p.Val1038Leu)
c.2512G>T (p.Val838Leu)
c.3460G>T (p.Val1154Leu)
c.3457G>T (p.Val1153Leu)
c.3376G>T (p.Val1126Leu)
c.3307G>T (p.Val1103Leu)
c.3175G>T (p.Val1059Leu)
c.3043G>T (p.Val1015Leu)
20g.32435909T>ACA408562560ASXL1c.3197T>A (p.Val1066Glu)
c.3014T>A (p.Val1005Glu)
n.5550T>A
c.1869+1328T>A (n.1869+1328T>A)
c.3182T>A (p.Val1061Glu)
c.3194T>A (p.Val1065Glu)
c.3167T>A (p.Val1056Glu)
c.3113T>A (p.Val1038Glu)
c.2513T>A (p.Val838Glu)
c.3461T>A (p.Val1154Glu)
c.3458T>A (p.Val1153Glu)
c.3377T>A (p.Val1126Glu)
c.3308T>A (p.Val1103Glu)
c.3176T>A (p.Val1059Glu)
c.3044T>A (p.Val1015Glu)
20g.32435909T>CCA408562561ASXL1c.3197T>C (p.Val1066Ala)
c.3014T>C (p.Val1005Ala)
n.5550T>C
c.1869+1328T>C (n.1869+1328T>C)
c.3182T>C (p.Val1061Ala)
c.3194T>C (p.Val1065Ala)
c.3167T>C (p.Val1056Ala)
c.3113T>C (p.Val1038Ala)
c.2513T>C (p.Val838Ala)
c.3461T>C (p.Val1154Ala)
c.3458T>C (p.Val1153Ala)
c.3377T>C (p.Val1126Ala)
c.3308T>C (p.Val1103Ala)
c.3176T>C (p.Val1059Ala)
c.3044T>C (p.Val1015Ala)
20g.32435909T>GCA408562562ASXL1c.3197T>G (p.Val1066Gly)
c.3014T>G (p.Val1005Gly)
n.5550T>G
c.1869+1328T>G (n.1869+1328T>G)
c.3182T>G (p.Val1061Gly)
c.3194T>G (p.Val1065Gly)
c.3167T>G (p.Val1056Gly)
c.3113T>G (p.Val1038Gly)
c.2513T>G (p.Val838Gly)
c.3461T>G (p.Val1154Gly)
c.3458T>G (p.Val1153Gly)
c.3377T>G (p.Val1126Gly)
c.3308T>G (p.Val1103Gly)
c.3176T>G (p.Val1059Gly)
c.3044T>G (p.Val1015Gly)
20g.32435910G>ACA510467073ASXL1c.3198G>A (p.Val1066=)
c.3015G>A (p.Val1005=)
n.5551G>A
c.1869+1329G>A (n.1869+1329G>A)
c.3183G>A (p.Val1061=)
c.3195G>A (p.Val1065=)
c.3168G>A (p.Val1056=)
c.3114G>A (p.Val1038=)
c.2514G>A (p.Val838=)
c.3462G>A (p.Val1154=)
c.3459G>A (p.Val1153=)
c.3378G>A (p.Val1126=)
c.3309G>A (p.Val1103=)
c.3177G>A (p.Val1059=)
c.3045G>A (p.Val1015=)
 dbSNP
20g.32435910G>CCA510467072ASXL1c.3198G>C (p.Val1066=)
c.3015G>C (p.Val1005=)
n.5551G>C
c.1869+1329G>C (n.1869+1329G>C)
c.3183G>C (p.Val1061=)
c.3195G>C (p.Val1065=)
c.3168G>C (p.Val1056=)
c.3114G>C (p.Val1038=)
c.2514G>C (p.Val838=)
c.3462G>C (p.Val1154=)
c.3459G>C (p.Val1153=)
c.3378G>C (p.Val1126=)
c.3309G>C (p.Val1103=)
c.3177G>C (p.Val1059=)
c.3045G>C (p.Val1015=)
20g.32435910G>TCA510467071ASXL1c.3198G>T (p.Val1066=)
c.3015G>T (p.Val1005=)
n.5551G>T
c.1869+1329G>T (n.1869+1329G>T)
c.3183G>T (p.Val1061=)
c.3195G>T (p.Val1065=)
c.3168G>T (p.Val1056=)
c.3114G>T (p.Val1038=)
c.2514G>T (p.Val838=)
c.3462G>T (p.Val1154=)
c.3459G>T (p.Val1153=)
c.3378G>T (p.Val1126=)
c.3309G>T (p.Val1103=)
c.3177G>T (p.Val1059=)
c.3045G>T (p.Val1015=)
20g.32435911T>ACA408562563ASXL1c.3199T>A (p.Ser1067Thr)
c.3016T>A (p.Ser1006Thr)
n.5552T>A
c.1869+1330T>A (n.1869+1330T>A)
c.3184T>A (p.Ser1062Thr)
c.3196T>A (p.Ser1066Thr)
c.3169T>A (p.Ser1057Thr)
c.3115T>A (p.Ser1039Thr)
c.2515T>A (p.Ser839Thr)
c.3463T>A (p.Ser1155Thr)
c.3460T>A (p.Ser1154Thr)
c.3379T>A (p.Ser1127Thr)
c.3310T>A (p.Ser1104Thr)
c.3178T>A (p.Ser1060Thr)
c.3046T>A (p.Ser1016Thr)
 dbSNP
20g.32435911T>CCA408562564ASXL1c.3199T>C (p.Ser1067Pro)
c.3016T>C (p.Ser1006Pro)
n.5552T>C
c.1869+1330T>C (n.1869+1330T>C)
c.3184T>C (p.Ser1062Pro)
c.3196T>C (p.Ser1066Pro)
c.3169T>C (p.Ser1057Pro)
c.3115T>C (p.Ser1039Pro)
c.2515T>C (p.Ser839Pro)
c.3463T>C (p.Ser1155Pro)
c.3460T>C (p.Ser1154Pro)
c.3379T>C (p.Ser1127Pro)
c.3310T>C (p.Ser1104Pro)
c.3178T>C (p.Ser1060Pro)
c.3046T>C (p.Ser1016Pro)
20g.32435911T>GCA408562565ASXL1c.3199T>G (p.Ser1067Ala)
c.3016T>G (p.Ser1006Ala)
n.5552T>G
c.1869+1330T>G (n.1869+1330T>G)
c.3184T>G (p.Ser1062Ala)
c.3196T>G (p.Ser1066Ala)
c.3169T>G (p.Ser1057Ala)
c.3115T>G (p.Ser1039Ala)
c.2515T>G (p.Ser839Ala)
c.3463T>G (p.Ser1155Ala)
c.3460T>G (p.Ser1154Ala)
c.3379T>G (p.Ser1127Ala)
c.3310T>G (p.Ser1104Ala)
c.3178T>G (p.Ser1060Ala)
c.3046T>G (p.Ser1016Ala)
20g.32435911T=CA2360293451ASXL1c.3199T= (p.Ser1067=)
c.3016T= (p.Ser1006=)
n.5552T=
c.1869+1330T= (n.1869+1330T=)
c.3184T= (p.Ser1062=)
c.3196T= (p.Ser1066=)
c.3169T= (p.Ser1057=)
c.3115T= (p.Ser1039=)
c.2515T= (p.Ser839=)
c.3463T= (p.Ser1155=)
c.3460T= (p.Ser1154=)
c.3379T= (p.Ser1127=)
c.3310T= (p.Ser1104=)
c.3178T= (p.Ser1060=)
c.3046T= (p.Ser1016=)
20g.32435913_32435914delCA2577366264ASXL1c.3201_3202del (p.Arg1068SerfsTer18)
c.3018_3019del (p.Arg1007SerfsTer18)
n.5554_5555del
c.1869+1332_1869+1333del (n.1869+1332_1869+1333del)
c.3186_3187del (p.Arg1063SerfsTer18)
c.3198_3199del (p.Arg1067SerfsTer18)
c.3171_3172del (p.Arg1058SerfsTer18)
c.3117_3118del (p.Arg1040SerfsTer18)
c.2517_2518del (p.Arg840SerfsTer18)
c.3465_3466del (p.Arg1156SerfsTer18)
c.3462_3463del (p.Arg1155SerfsTer18)
c.3381_3382del (p.Arg1128SerfsTer18)
c.3312_3313del (p.Arg1105SerfsTer18)
c.3180_3181del (p.Arg1061SerfsTer18)
c.3048_3049del (p.Arg1017SerfsTer18)
20g.32435912C>ACA408562566ASXL1c.3200C>A (p.Ser1067Tyr)
c.3017C>A (p.Ser1006Tyr)
n.5553C>A
c.1869+1331C>A (n.1869+1331C>A)
c.3185C>A (p.Ser1062Tyr)
c.3197C>A (p.Ser1066Tyr)
c.3170C>A (p.Ser1057Tyr)
c.3116C>A (p.Ser1039Tyr)
c.2516C>A (p.Ser839Tyr)
c.3464C>A (p.Ser1155Tyr)
c.3461C>A (p.Ser1154Tyr)
c.3380C>A (p.Ser1127Tyr)
c.3311C>A (p.Ser1104Tyr)
c.3179C>A (p.Ser1060Tyr)
c.3047C>A (p.Ser1016Tyr)
20g.32435912C=CA2360293452ASXL1c.3200C= (p.Ser1067=)
c.3017C= (p.Ser1006=)
n.5553C=
c.1869+1331C= (n.1869+1331C=)
c.3185C= (p.Ser1062=)
c.3197C= (p.Ser1066=)
c.3170C= (p.Ser1057=)
c.3116C= (p.Ser1039=)
c.2516C= (p.Ser839=)
c.3464C= (p.Ser1155=)
c.3461C= (p.Ser1154=)
c.3380C= (p.Ser1127=)
c.3311C= (p.Ser1104=)
c.3179C= (p.Ser1060=)
c.3047C= (p.Ser1016=)
20g.32435912C>GCA408562567ASXL1c.3200C>G (p.Ser1067Cys)
c.3017C>G (p.Ser1006Cys)
n.5553C>G
c.1869+1331C>G (n.1869+1331C>G)
c.3185C>G (p.Ser1062Cys)
c.3197C>G (p.Ser1066Cys)
c.3170C>G (p.Ser1057Cys)
c.3116C>G (p.Ser1039Cys)
c.2516C>G (p.Ser839Cys)
c.3464C>G (p.Ser1155Cys)
c.3461C>G (p.Ser1154Cys)
c.3380C>G (p.Ser1127Cys)
c.3311C>G (p.Ser1104Cys)
c.3179C>G (p.Ser1060Cys)
c.3047C>G (p.Ser1016Cys)
 dbSNP
20g.32435912C>TCA9808773ASXL1c.3200C>T (p.Ser1067Phe)
c.3017C>T (p.Ser1006Phe)
n.5553C>T
c.1869+1331C>T (n.1869+1331C>T)
c.3185C>T (p.Ser1062Phe)
c.3197C>T (p.Ser1066Phe)
c.3170C>T (p.Ser1057Phe)
c.3116C>T (p.Ser1039Phe)
c.2516C>T (p.Ser839Phe)
c.3464C>T (p.Ser1155Phe)
c.3461C>T (p.Ser1154Phe)
c.3380C>T (p.Ser1127Phe)
c.3311C>T (p.Ser1104Phe)
c.3179C>T (p.Ser1060Phe)
c.3047C>T (p.Ser1016Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435913T>ACA510467079ASXL1c.3201T>A (p.Ser1067=)
c.3018T>A (p.Ser1006=)
n.5554T>A
c.1869+1332T>A (n.1869+1332T>A)
c.3186T>A (p.Ser1062=)
c.3198T>A (p.Ser1066=)
c.3171T>A (p.Ser1057=)
c.3117T>A (p.Ser1039=)
c.2517T>A (p.Ser839=)
c.3465T>A (p.Ser1155=)
c.3462T>A (p.Ser1154=)
c.3381T>A (p.Ser1127=)
c.3312T>A (p.Ser1104=)
c.3180T>A (p.Ser1060=)
c.3048T>A (p.Ser1016=)
20g.32435913T>CCA510467081ASXL1c.3201T>C (p.Ser1067=)
c.3018T>C (p.Ser1006=)
n.5554T>C
c.1869+1332T>C (n.1869+1332T>C)
c.3186T>C (p.Ser1062=)
c.3198T>C (p.Ser1066=)
c.3171T>C (p.Ser1057=)
c.3117T>C (p.Ser1039=)
c.2517T>C (p.Ser839=)
c.3465T>C (p.Ser1155=)
c.3462T>C (p.Ser1154=)
c.3381T>C (p.Ser1127=)
c.3312T>C (p.Ser1104=)
c.3180T>C (p.Ser1060=)
c.3048T>C (p.Ser1016=)
20g.32435913T>GCA510467083ASXL1c.3201T>G (p.Ser1067=)
c.3018T>G (p.Ser1006=)
n.5554T>G
c.1869+1332T>G (n.1869+1332T>G)
c.3186T>G (p.Ser1062=)
c.3198T>G (p.Ser1066=)
c.3171T>G (p.Ser1057=)
c.3117T>G (p.Ser1039=)
c.2517T>G (p.Ser839=)
c.3465T>G (p.Ser1155=)
c.3462T>G (p.Ser1154=)
c.3381T>G (p.Ser1127=)
c.3312T>G (p.Ser1104=)
c.3180T>G (p.Ser1060=)
c.3048T>G (p.Ser1016=)
20g.32435914C>ACA510467085ASXL1c.3202C>A (p.Arg1068=)
c.3019C>A (p.Arg1007=)
n.5555C>A
c.1869+1333C>A (n.1869+1333C>A)
c.3187C>A (p.Arg1063=)
c.3199C>A (p.Arg1067=)
c.3172C>A (p.Arg1058=)
c.3118C>A (p.Arg1040=)
c.2518C>A (p.Arg840=)
c.3466C>A (p.Arg1156=)
c.3463C>A (p.Arg1155=)
c.3382C>A (p.Arg1128=)
c.3313C>A (p.Arg1105=)
c.3181C>A (p.Arg1061=)
c.3049C>A (p.Arg1017=)
 dbSNP
20g.32435914C=CA2360293453ASXL1c.3202C= (p.Arg1068=)
c.3019C= (p.Arg1007=)
n.5555C=
c.1869+1333C= (n.1869+1333C=)
c.3187C= (p.Arg1063=)
c.3199C= (p.Arg1067=)
c.3172C= (p.Arg1058=)
c.3118C= (p.Arg1040=)
c.2518C= (p.Arg840=)
c.3466C= (p.Arg1156=)
c.3463C= (p.Arg1155=)
c.3382C= (p.Arg1128=)
c.3313C= (p.Arg1105=)
c.3181C= (p.Arg1061=)
c.3049C= (p.Arg1017=)
20g.32435914C>GCA408562568ASXL1c.3202C>G (p.Arg1068Gly)
c.3019C>G (p.Arg1007Gly)
n.5555C>G
c.1869+1333C>G (n.1869+1333C>G)
c.3187C>G (p.Arg1063Gly)
c.3199C>G (p.Arg1067Gly)
c.3172C>G (p.Arg1058Gly)
c.3118C>G (p.Arg1040Gly)
c.2518C>G (p.Arg840Gly)
c.3466C>G (p.Arg1156Gly)
c.3463C>G (p.Arg1155Gly)
c.3382C>G (p.Arg1128Gly)
c.3313C>G (p.Arg1105Gly)
c.3181C>G (p.Arg1061Gly)
c.3049C>G (p.Arg1017Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.32435914C>TCA9808774ASXL1c.3202C>T (p.Arg1068Ter)
c.3019C>T (p.Arg1007Ter)
n.5555C>T
c.1869+1333C>T (n.1869+1333C>T)
c.3187C>T (p.Arg1063Ter)
c.3199C>T (p.Arg1067Ter)
c.3172C>T (p.Arg1058Ter)
c.3118C>T (p.Arg1040Ter)
c.2518C>T (p.Arg840Ter)
c.3466C>T (p.Arg1156Ter)
c.3463C>T (p.Arg1155Ter)
c.3382C>T (p.Arg1128Ter)
c.3313C>T (p.Arg1105Ter)
c.3181C>T (p.Arg1061Ter)
c.3049C>T (p.Arg1017Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32435915G>ACA9808775ASXL1c.3203G>A (p.Arg1068Gln)
c.3020G>A (p.Arg1007Gln)
n.5556G>A
c.1869+1334G>A (n.1869+1334G>A)
c.3188G>A (p.Arg1063Gln)
c.3200G>A (p.Arg1067Gln)
c.3173G>A (p.Arg1058Gln)
c.3119G>A (p.Arg1040Gln)
c.2519G>A (p.Arg840Gln)
c.3467G>A (p.Arg1156Gln)
c.3464G>A (p.Arg1155Gln)
c.3383G>A (p.Arg1128Gln)
c.3314G>A (p.Arg1105Gln)
c.3182G>A (p.Arg1061Gln)
c.3050G>A (p.Arg1017Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435915G>CCA408562569ASXL1c.3203G>C (p.Arg1068Pro)
c.3020G>C (p.Arg1007Pro)
n.5556G>C
c.1869+1334G>C (n.1869+1334G>C)
c.3188G>C (p.Arg1063Pro)
c.3200G>C (p.Arg1067Pro)
c.3173G>C (p.Arg1058Pro)
c.3119G>C (p.Arg1040Pro)
c.2519G>C (p.Arg840Pro)
c.3467G>C (p.Arg1156Pro)
c.3464G>C (p.Arg1155Pro)
c.3383G>C (p.Arg1128Pro)
c.3314G>C (p.Arg1105Pro)
c.3182G>C (p.Arg1061Pro)
c.3050G>C (p.Arg1017Pro)
20g.32435915G=CA2360293454ASXL1c.3203G= (p.Arg1068=)
c.3020G= (p.Arg1007=)
n.5556G=
c.1869+1334G= (n.1869+1334G=)
c.3188G= (p.Arg1063=)
c.3200G= (p.Arg1067=)
c.3173G= (p.Arg1058=)
c.3119G= (p.Arg1040=)
c.2519G= (p.Arg840=)
c.3467G= (p.Arg1156=)
c.3464G= (p.Arg1155=)
c.3383G= (p.Arg1128=)
c.3314G= (p.Arg1105=)
c.3182G= (p.Arg1061=)
c.3050G= (p.Arg1017=)
20g.32435915G>TCA408562570ASXL1c.3203G>T (p.Arg1068Leu)
c.3020G>T (p.Arg1007Leu)
n.5556G>T
c.1869+1334G>T (n.1869+1334G>T)
c.3188G>T (p.Arg1063Leu)
c.3200G>T (p.Arg1067Leu)
c.3173G>T (p.Arg1058Leu)
c.3119G>T (p.Arg1040Leu)
c.2519G>T (p.Arg840Leu)
c.3467G>T (p.Arg1156Leu)
c.3464G>T (p.Arg1155Leu)
c.3383G>T (p.Arg1128Leu)
c.3314G>T (p.Arg1105Leu)
c.3182G>T (p.Arg1061Leu)
c.3050G>T (p.Arg1017Leu)
20g.32435916A>CCA510467090ASXL1c.3204A>C (p.Arg1068=)
c.3021A>C (p.Arg1007=)
n.5557A>C
c.1869+1335A>C (n.1869+1335A>C)
c.3189A>C (p.Arg1063=)
c.3201A>C (p.Arg1067=)
c.3174A>C (p.Arg1058=)
c.3120A>C (p.Arg1040=)
c.2520A>C (p.Arg840=)
c.3468A>C (p.Arg1156=)
c.3465A>C (p.Arg1155=)
c.3384A>C (p.Arg1128=)
c.3315A>C (p.Arg1105=)
c.3183A>C (p.Arg1061=)
c.3051A>C (p.Arg1017=)
 dbSNP gnomAD v3 gnomAD v4
20g.32435916A>GCA510467091ASXL1c.3204A>G (p.Arg1068=)
c.3021A>G (p.Arg1007=)
n.5557A>G
c.1869+1335A>G (n.1869+1335A>G)
c.3189A>G (p.Arg1063=)
c.3201A>G (p.Arg1067=)
c.3174A>G (p.Arg1058=)
c.3120A>G (p.Arg1040=)
c.2520A>G (p.Arg840=)
c.3468A>G (p.Arg1156=)
c.3465A>G (p.Arg1155=)
c.3384A>G (p.Arg1128=)
c.3315A>G (p.Arg1105=)
c.3183A>G (p.Arg1061=)
c.3051A>G (p.Arg1017=)
20g.32435916A>TCA510467092ASXL1c.3204A>T (p.Arg1068=)
c.3021A>T (p.Arg1007=)
n.5557A>T
c.1869+1335A>T (n.1869+1335A>T)
c.3189A>T (p.Arg1063=)
c.3201A>T (p.Arg1067=)
c.3174A>T (p.Arg1058=)
c.3120A>T (p.Arg1040=)
c.2520A>T (p.Arg840=)
c.3468A>T (p.Arg1156=)
c.3465A>T (p.Arg1155=)
c.3384A>T (p.Arg1128=)
c.3315A>T (p.Arg1105=)
c.3183A>T (p.Arg1061=)
c.3051A>T (p.Arg1017=)
20g.32435917G>ACA9808776ASXL1c.3205G>A (p.Val1069Ile)
c.3022G>A (p.Val1008Ile)
n.5558G>A
c.1869+1336G>A (n.1869+1336G>A)
c.3190G>A (p.Val1064Ile)
c.3202G>A (p.Val1068Ile)
c.3175G>A (p.Val1059Ile)
c.3121G>A (p.Val1041Ile)
c.2521G>A (p.Val841Ile)
c.3469G>A (p.Val1157Ile)
c.3466G>A (p.Val1156Ile)
c.3385G>A (p.Val1129Ile)
c.3316G>A (p.Val1106Ile)
c.3184G>A (p.Val1062Ile)
c.3052G>A (p.Val1018Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435917G>CCA408562572ASXL1c.3205G>C (p.Val1069Leu)
c.3022G>C (p.Val1008Leu)
n.5558G>C
c.1869+1336G>C (n.1869+1336G>C)
c.3190G>C (p.Val1064Leu)
c.3202G>C (p.Val1068Leu)
c.3175G>C (p.Val1059Leu)
c.3121G>C (p.Val1041Leu)
c.2521G>C (p.Val841Leu)
c.3469G>C (p.Val1157Leu)
c.3466G>C (p.Val1156Leu)
c.3385G>C (p.Val1129Leu)
c.3316G>C (p.Val1106Leu)
c.3184G>C (p.Val1062Leu)
c.3052G>C (p.Val1018Leu)
20g.32435917G=CA2360293455ASXL1c.3205G= (p.Val1069=)
c.3022G= (p.Val1008=)
n.5558G=
c.1869+1336G= (n.1869+1336G=)
c.3190G= (p.Val1064=)
c.3202G= (p.Val1068=)
c.3175G= (p.Val1059=)
c.3121G= (p.Val1041=)
c.2521G= (p.Val841=)
c.3469G= (p.Val1157=)
c.3466G= (p.Val1156=)
c.3385G= (p.Val1129=)
c.3316G= (p.Val1106=)
c.3184G= (p.Val1062=)
c.3052G= (p.Val1018=)
20g.32435917G>TCA408562571ASXL1c.3205G>T (p.Val1069Leu)
c.3022G>T (p.Val1008Leu)
n.5558G>T
c.1869+1336G>T (n.1869+1336G>T)
c.3190G>T (p.Val1064Leu)
c.3202G>T (p.Val1068Leu)
c.3175G>T (p.Val1059Leu)
c.3121G>T (p.Val1041Leu)
c.2521G>T (p.Val841Leu)
c.3469G>T (p.Val1157Leu)
c.3466G>T (p.Val1156Leu)
c.3385G>T (p.Val1129Leu)
c.3316G>T (p.Val1106Leu)
c.3184G>T (p.Val1062Leu)
c.3052G>T (p.Val1018Leu)
 ClinVar
20g.32435918T>ACA408562573ASXL1c.3206T>A (p.Val1069Glu)
c.3023T>A (p.Val1008Glu)
n.5559T>A
c.1869+1337T>A (n.1869+1337T>A)
c.3191T>A (p.Val1064Glu)
c.3203T>A (p.Val1068Glu)
c.3176T>A (p.Val1059Glu)
c.3122T>A (p.Val1041Glu)
c.2522T>A (p.Val841Glu)
c.3470T>A (p.Val1157Glu)
c.3467T>A (p.Val1156Glu)
c.3386T>A (p.Val1129Glu)
c.3317T>A (p.Val1106Glu)
c.3185T>A (p.Val1062Glu)
c.3053T>A (p.Val1018Glu)
20g.32435918T>CCA408562574ASXL1c.3206T>C (p.Val1069Ala)
c.3023T>C (p.Val1008Ala)
n.5559T>C
c.1869+1337T>C (n.1869+1337T>C)
c.3191T>C (p.Val1064Ala)
c.3203T>C (p.Val1068Ala)
c.3176T>C (p.Val1059Ala)
c.3122T>C (p.Val1041Ala)
c.2522T>C (p.Val841Ala)
c.3470T>C (p.Val1157Ala)
c.3467T>C (p.Val1156Ala)
c.3386T>C (p.Val1129Ala)
c.3317T>C (p.Val1106Ala)
c.3185T>C (p.Val1062Ala)
c.3053T>C (p.Val1018Ala)
20g.32435918T>GCA408562575ASXL1c.3206T>G (p.Val1069Gly)
c.3023T>G (p.Val1008Gly)
n.5559T>G
c.1869+1337T>G (n.1869+1337T>G)
c.3191T>G (p.Val1064Gly)
c.3203T>G (p.Val1068Gly)
c.3176T>G (p.Val1059Gly)
c.3122T>G (p.Val1041Gly)
c.2522T>G (p.Val841Gly)
c.3470T>G (p.Val1157Gly)
c.3467T>G (p.Val1156Gly)
c.3386T>G (p.Val1129Gly)
c.3317T>G (p.Val1106Gly)
c.3185T>G (p.Val1062Gly)
c.3053T>G (p.Val1018Gly)
 gnomAD v4
20g.32435919_32435920delCA635268554ASXL1c.3207_3208del (p.Ala1071GlyfsTer15)
c.3024_3025del (p.Ala1010GlyfsTer15)
n.5560_5561del
c.1869+1338_1869+1339del (n.1869+1338_1869+1339del)
c.3192_3193del (p.Ala1066GlyfsTer15)
c.3204_3205del (p.Ala1070GlyfsTer15)
c.3177_3178del (p.Ala1061GlyfsTer15)
c.3123_3124del (p.Ala1043GlyfsTer15)
c.2523_2524del (p.Ala843GlyfsTer15)
c.3471_3472del (p.Ala1159GlyfsTer15)
c.3468_3469del (p.Ala1158GlyfsTer15)
c.3387_3388del (p.Ala1131GlyfsTer15)
c.3318_3319del (p.Ala1108GlyfsTer15)
c.3186_3187del (p.Ala1064GlyfsTer15)
c.3054_3055del (p.Ala1020GlyfsTer15)
 gnomAD v2 gnomAD v4
20g.32435919A=CA2360293456ASXL1c.3207A= (p.Val1069=)
c.3024A= (p.Val1008=)
n.5560A=
c.1869+1338A= (n.1869+1338A=)
c.3192A= (p.Val1064=)
c.3204A= (p.Val1068=)
c.3177A= (p.Val1059=)
c.3123A= (p.Val1041=)
c.2523A= (p.Val841=)
c.3471A= (p.Val1157=)
c.3468A= (p.Val1156=)
c.3387A= (p.Val1129=)
c.3318A= (p.Val1106=)
c.3186A= (p.Val1062=)
c.3054A= (p.Val1018=)
20g.32435919A>CCA510467097ASXL1c.3207A>C (p.Val1069=)
c.3024A>C (p.Val1008=)
n.5560A>C
c.1869+1338A>C (n.1869+1338A>C)
c.3192A>C (p.Val1064=)
c.3204A>C (p.Val1068=)
c.3177A>C (p.Val1059=)
c.3123A>C (p.Val1041=)
c.2523A>C (p.Val841=)
c.3471A>C (p.Val1157=)
c.3468A>C (p.Val1156=)
c.3387A>C (p.Val1129=)
c.3318A>C (p.Val1106=)
c.3186A>C (p.Val1062=)
c.3054A>C (p.Val1018=)
20g.32435919A>GCA510467098ASXL1c.3207A>G (p.Val1069=)
c.3024A>G (p.Val1008=)
n.5560A>G
c.1869+1338A>G (n.1869+1338A>G)
c.3192A>G (p.Val1064=)
c.3204A>G (p.Val1068=)
c.3177A>G (p.Val1059=)
c.3123A>G (p.Val1041=)
c.2523A>G (p.Val841=)
c.3471A>G (p.Val1157=)
c.3468A>G (p.Val1156=)
c.3387A>G (p.Val1129=)
c.3318A>G (p.Val1106=)
c.3186A>G (p.Val1062=)
c.3054A>G (p.Val1018=)
 dbSNP gnomAD v3 gnomAD v4
20g.32435919A>TCA510467099ASXL1c.3207A>T (p.Val1069=)
c.3024A>T (p.Val1008=)
n.5560A>T
c.1869+1338A>T (n.1869+1338A>T)
c.3192A>T (p.Val1064=)
c.3204A>T (p.Val1068=)
c.3177A>T (p.Val1059=)
c.3123A>T (p.Val1041=)
c.2523A>T (p.Val841=)
c.3471A>T (p.Val1157=)
c.3468A>T (p.Val1156=)
c.3387A>T (p.Val1129=)
c.3318A>T (p.Val1106=)
c.3186A>T (p.Val1062=)
c.3054A>T (p.Val1018=)
20g.32435920T>ACA408562576ASXL1c.3208T>A (p.Cys1070Ser)
c.3025T>A (p.Cys1009Ser)
n.5561T>A
c.1869+1339T>A (n.1869+1339T>A)
c.3193T>A (p.Cys1065Ser)
c.3205T>A (p.Cys1069Ser)
c.3178T>A (p.Cys1060Ser)
c.3124T>A (p.Cys1042Ser)
c.2524T>A (p.Cys842Ser)
c.3472T>A (p.Cys1158Ser)
c.3469T>A (p.Cys1157Ser)
c.3388T>A (p.Cys1130Ser)
c.3319T>A (p.Cys1107Ser)
c.3187T>A (p.Cys1063Ser)
c.3055T>A (p.Cys1019Ser)
 dbSNP
20g.32435920T>CCA408562577ASXL1c.3208T>C (p.Cys1070Arg)
c.3025T>C (p.Cys1009Arg)
n.5561T>C
c.1869+1339T>C (n.1869+1339T>C)
c.3193T>C (p.Cys1065Arg)
c.3205T>C (p.Cys1069Arg)
c.3178T>C (p.Cys1060Arg)
c.3124T>C (p.Cys1042Arg)
c.2524T>C (p.Cys842Arg)
c.3472T>C (p.Cys1158Arg)
c.3469T>C (p.Cys1157Arg)
c.3388T>C (p.Cys1130Arg)
c.3319T>C (p.Cys1107Arg)
c.3187T>C (p.Cys1063Arg)
c.3055T>C (p.Cys1019Arg)
20g.32435920T>GCA408562578ASXL1c.3208T>G (p.Cys1070Gly)
c.3025T>G (p.Cys1009Gly)
n.5561T>G
c.1869+1339T>G (n.1869+1339T>G)
c.3193T>G (p.Cys1065Gly)
c.3205T>G (p.Cys1069Gly)
c.3178T>G (p.Cys1060Gly)
c.3124T>G (p.Cys1042Gly)
c.2524T>G (p.Cys842Gly)
c.3472T>G (p.Cys1158Gly)
c.3469T>G (p.Cys1157Gly)
c.3388T>G (p.Cys1130Gly)
c.3319T>G (p.Cys1107Gly)
c.3187T>G (p.Cys1063Gly)
c.3055T>G (p.Cys1019Gly)
20g.32435921G>ACA408562579ASXL1c.3209G>A (p.Cys1070Tyr)
c.3026G>A (p.Cys1009Tyr)
n.5562G>A
c.1869+1340G>A (n.1869+1340G>A)
c.3194G>A (p.Cys1065Tyr)
c.3206G>A (p.Cys1069Tyr)
c.3179G>A (p.Cys1060Tyr)
c.3125G>A (p.Cys1042Tyr)
c.2525G>A (p.Cys842Tyr)
c.3473G>A (p.Cys1158Tyr)
c.3470G>A (p.Cys1157Tyr)
c.3389G>A (p.Cys1130Tyr)
c.3320G>A (p.Cys1107Tyr)
c.3188G>A (p.Cys1063Tyr)
c.3056G>A (p.Cys1019Tyr)
 dbSNP gnomAD v2 gnomAD v4
20g.32435921G>CCA408562581ASXL1c.3209G>C (p.Cys1070Ser)
c.3026G>C (p.Cys1009Ser)
n.5562G>C
c.1869+1340G>C (n.1869+1340G>C)
c.3194G>C (p.Cys1065Ser)
c.3206G>C (p.Cys1069Ser)
c.3179G>C (p.Cys1060Ser)
c.3125G>C (p.Cys1042Ser)
c.2525G>C (p.Cys842Ser)
c.3473G>C (p.Cys1158Ser)
c.3470G>C (p.Cys1157Ser)
c.3389G>C (p.Cys1130Ser)
c.3320G>C (p.Cys1107Ser)
c.3188G>C (p.Cys1063Ser)
c.3056G>C (p.Cys1019Ser)
20g.32435921G=CA2360293457ASXL1c.3209G= (p.Cys1070=)
c.3026G= (p.Cys1009=)
n.5562G=
c.1869+1340G= (n.1869+1340G=)
c.3194G= (p.Cys1065=)
c.3206G= (p.Cys1069=)
c.3179G= (p.Cys1060=)
c.3125G= (p.Cys1042=)
c.2525G= (p.Cys842=)
c.3473G= (p.Cys1158=)
c.3470G= (p.Cys1157=)
c.3389G= (p.Cys1130=)
c.3320G= (p.Cys1107=)
c.3188G= (p.Cys1063=)
c.3056G= (p.Cys1019=)
20g.32435921G>TCA408562580ASXL1c.3209G>T (p.Cys1070Phe)
c.3026G>T (p.Cys1009Phe)
n.5562G>T
c.1869+1340G>T (n.1869+1340G>T)
c.3194G>T (p.Cys1065Phe)
c.3206G>T (p.Cys1069Phe)
c.3179G>T (p.Cys1060Phe)
c.3125G>T (p.Cys1042Phe)
c.2525G>T (p.Cys842Phe)
c.3473G>T (p.Cys1158Phe)
c.3470G>T (p.Cys1157Phe)
c.3389G>T (p.Cys1130Phe)
c.3320G>T (p.Cys1107Phe)
c.3188G>T (p.Cys1063Phe)
c.3056G>T (p.Cys1019Phe)
20g.32435922T>ACA408562582ASXL1c.3210T>A (p.Cys1070Ter)
c.3027T>A (p.Cys1009Ter)
n.5563T>A
c.1869+1341T>A (n.1869+1341T>A)
c.3195T>A (p.Cys1065Ter)
c.3207T>A (p.Cys1069Ter)
c.3180T>A (p.Cys1060Ter)
c.3126T>A (p.Cys1042Ter)
c.2526T>A (p.Cys842Ter)
c.3474T>A (p.Cys1158Ter)
c.3471T>A (p.Cys1157Ter)
c.3390T>A (p.Cys1130Ter)
c.3321T>A (p.Cys1107Ter)
c.3189T>A (p.Cys1063Ter)
c.3057T>A (p.Cys1019Ter)
20g.32435922T>CCA510467103ASXL1c.3210T>C (p.Cys1070=)
c.3027T>C (p.Cys1009=)
n.5563T>C
c.1869+1341T>C (n.1869+1341T>C)
c.3195T>C (p.Cys1065=)
c.3207T>C (p.Cys1069=)
c.3180T>C (p.Cys1060=)
c.3126T>C (p.Cys1042=)
c.2526T>C (p.Cys842=)
c.3474T>C (p.Cys1158=)
c.3471T>C (p.Cys1157=)
c.3390T>C (p.Cys1130=)
c.3321T>C (p.Cys1107=)
c.3189T>C (p.Cys1063=)
c.3057T>C (p.Cys1019=)
 gnomAD v4
20g.32435922T>GCA408562583ASXL1c.3210T>G (p.Cys1070Trp)
c.3027T>G (p.Cys1009Trp)
n.5563T>G
c.1869+1341T>G (n.1869+1341T>G)
c.3195T>G (p.Cys1065Trp)
c.3207T>G (p.Cys1069Trp)
c.3180T>G (p.Cys1060Trp)
c.3126T>G (p.Cys1042Trp)
c.2526T>G (p.Cys842Trp)
c.3474T>G (p.Cys1158Trp)
c.3471T>G (p.Cys1157Trp)
c.3390T>G (p.Cys1130Trp)
c.3321T>G (p.Cys1107Trp)
c.3189T>G (p.Cys1063Trp)
c.3057T>G (p.Cys1019Trp)
20g.32435923G>ACA9808777ASXL1c.3211G>A (p.Ala1071Thr)
c.3028G>A (p.Ala1010Thr)
n.5564G>A
c.1869+1342G>A (n.1869+1342G>A)
c.3196G>A (p.Ala1066Thr)
c.3208G>A (p.Ala1070Thr)
c.3181G>A (p.Ala1061Thr)
c.3127G>A (p.Ala1043Thr)
c.2527G>A (p.Ala843Thr)
c.3475G>A (p.Ala1159Thr)
c.3472G>A (p.Ala1158Thr)
c.3391G>A (p.Ala1131Thr)
c.3322G>A (p.Ala1108Thr)
c.3190G>A (p.Ala1064Thr)
c.3058G>A (p.Ala1020Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435923G>CCA408562584ASXL1c.3211G>C (p.Ala1071Pro)
c.3028G>C (p.Ala1010Pro)
n.5564G>C
c.1869+1342G>C (n.1869+1342G>C)
c.3196G>C (p.Ala1066Pro)
c.3208G>C (p.Ala1070Pro)
c.3181G>C (p.Ala1061Pro)
c.3127G>C (p.Ala1043Pro)
c.2527G>C (p.Ala843Pro)
c.3475G>C (p.Ala1159Pro)
c.3472G>C (p.Ala1158Pro)
c.3391G>C (p.Ala1131Pro)
c.3322G>C (p.Ala1108Pro)
c.3190G>C (p.Ala1064Pro)
c.3058G>C (p.Ala1020Pro)
20g.32435923G=CA2360293458ASXL1c.3211G= (p.Ala1071=)
c.3028G= (p.Ala1010=)
n.5564G=
c.1869+1342G= (n.1869+1342G=)
c.3196G= (p.Ala1066=)
c.3208G= (p.Ala1070=)
c.3181G= (p.Ala1061=)
c.3127G= (p.Ala1043=)
c.2527G= (p.Ala843=)
c.3475G= (p.Ala1159=)
c.3472G= (p.Ala1158=)
c.3391G= (p.Ala1131=)
c.3322G= (p.Ala1108=)
c.3190G= (p.Ala1064=)
c.3058G= (p.Ala1020=)
20g.32435923G>TCA408562585ASXL1c.3211G>T (p.Ala1071Ser)
c.3028G>T (p.Ala1010Ser)
n.5564G>T
c.1869+1342G>T (n.1869+1342G>T)
c.3196G>T (p.Ala1066Ser)
c.3208G>T (p.Ala1070Ser)
c.3181G>T (p.Ala1061Ser)
c.3127G>T (p.Ala1043Ser)
c.2527G>T (p.Ala843Ser)
c.3475G>T (p.Ala1159Ser)
c.3472G>T (p.Ala1158Ser)
c.3391G>T (p.Ala1131Ser)
c.3322G>T (p.Ala1108Ser)
c.3190G>T (p.Ala1064Ser)
c.3058G>T (p.Ala1020Ser)
20g.32435924C>ACA408562586ASXL1c.3212C>A (p.Ala1071Glu)
c.3029C>A (p.Ala1010Glu)
n.5565C>A
c.1869+1343C>A (n.1869+1343C>A)
c.3197C>A (p.Ala1066Glu)
c.3209C>A (p.Ala1070Glu)
c.3182C>A (p.Ala1061Glu)
c.3128C>A (p.Ala1043Glu)
c.2528C>A (p.Ala843Glu)
c.3476C>A (p.Ala1159Glu)
c.3473C>A (p.Ala1158Glu)
c.3392C>A (p.Ala1131Glu)
c.3323C>A (p.Ala1108Glu)
c.3191C>A (p.Ala1064Glu)
c.3059C>A (p.Ala1020Glu)
20g.32435924C=CA2360293459ASXL1c.3212C= (p.Ala1071=)
c.3029C= (p.Ala1010=)
n.5565C=
c.1869+1343C= (n.1869+1343C=)
c.3197C= (p.Ala1066=)
c.3209C= (p.Ala1070=)
c.3182C= (p.Ala1061=)
c.3128C= (p.Ala1043=)
c.2528C= (p.Ala843=)
c.3476C= (p.Ala1159=)
c.3473C= (p.Ala1158=)
c.3392C= (p.Ala1131=)
c.3323C= (p.Ala1108=)
c.3191C= (p.Ala1064=)
c.3059C= (p.Ala1020=)
20g.32435924C>GCA408562587ASXL1c.3212C>G (p.Ala1071Gly)
c.3029C>G (p.Ala1010Gly)
n.5565C>G
c.1869+1343C>G (n.1869+1343C>G)
c.3197C>G (p.Ala1066Gly)
c.3209C>G (p.Ala1070Gly)
c.3182C>G (p.Ala1061Gly)
c.3128C>G (p.Ala1043Gly)
c.2528C>G (p.Ala843Gly)
c.3476C>G (p.Ala1159Gly)
c.3473C>G (p.Ala1158Gly)
c.3392C>G (p.Ala1131Gly)
c.3323C>G (p.Ala1108Gly)
c.3191C>G (p.Ala1064Gly)
c.3059C>G (p.Ala1020Gly)
20g.32435924C>TCA9808778ASXL1c.3212C>T (p.Ala1071Val)
c.3029C>T (p.Ala1010Val)
n.5565C>T
c.1869+1343C>T (n.1869+1343C>T)
c.3197C>T (p.Ala1066Val)
c.3209C>T (p.Ala1070Val)
c.3182C>T (p.Ala1061Val)
c.3128C>T (p.Ala1043Val)
c.2528C>T (p.Ala843Val)
c.3476C>T (p.Ala1159Val)
c.3473C>T (p.Ala1158Val)
c.3392C>T (p.Ala1131Val)
c.3323C>T (p.Ala1108Val)
c.3191C>T (p.Ala1064Val)
c.3059C>T (p.Ala1020Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435925G>ACA9808779ASXL1c.3213G>A (p.Ala1071=)
c.3030G>A (p.Ala1010=)
n.5566G>A
c.1869+1344G>A (n.1869+1344G>A)
c.3198G>A (p.Ala1066=)
c.3210G>A (p.Ala1070=)
c.3183G>A (p.Ala1061=)
c.3129G>A (p.Ala1043=)
c.2529G>A (p.Ala843=)
c.3477G>A (p.Ala1159=)
c.3474G>A (p.Ala1158=)
c.3393G>A (p.Ala1131=)
c.3324G>A (p.Ala1108=)
c.3192G>A (p.Ala1064=)
c.3060G>A (p.Ala1020=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32435925G>CCA510467107ASXL1c.3213G>C (p.Ala1071=)
c.3030G>C (p.Ala1010=)
n.5566G>C
c.1869+1344G>C (n.1869+1344G>C)
c.3198G>C (p.Ala1066=)
c.3210G>C (p.Ala1070=)
c.3183G>C (p.Ala1061=)
c.3129G>C (p.Ala1043=)
c.2529G>C (p.Ala843=)
c.3477G>C (p.Ala1159=)
c.3474G>C (p.Ala1158=)
c.3393G>C (p.Ala1131=)
c.3324G>C (p.Ala1108=)
c.3192G>C (p.Ala1064=)
c.3060G>C (p.Ala1020=)
 gnomAD v4
20g.32435925G=CA2360293460ASXL1c.3213G= (p.Ala1071=)
c.3030G= (p.Ala1010=)
n.5566G=
c.1869+1344G= (n.1869+1344G=)
c.3198G= (p.Ala1066=)
c.3210G= (p.Ala1070=)
c.3183G= (p.Ala1061=)
c.3129G= (p.Ala1043=)
c.2529G= (p.Ala843=)
c.3477G= (p.Ala1159=)
c.3474G= (p.Ala1158=)
c.3393G= (p.Ala1131=)
c.3324G= (p.Ala1108=)
c.3192G= (p.Ala1064=)
c.3060G= (p.Ala1020=)
20g.32435925G>TCA510467108ASXL1c.3213G>T (p.Ala1071=)
c.3030G>T (p.Ala1010=)
n.5566G>T
c.1869+1344G>T (n.1869+1344G>T)
c.3198G>T (p.Ala1066=)
c.3210G>T (p.Ala1070=)
c.3183G>T (p.Ala1061=)
c.3129G>T (p.Ala1043=)
c.2529G>T (p.Ala843=)
c.3477G>T (p.Ala1159=)
c.3474G>T (p.Ala1158=)
c.3393G>T (p.Ala1131=)
c.3324G>T (p.Ala1108=)
c.3192G>T (p.Ala1064=)
c.3060G>T (p.Ala1020=)
 gnomAD v4
20g.32435926G>ACA408562588ASXL1c.3214G>A (p.Val1072Ile)
c.3031G>A (p.Val1011Ile)
n.5567G>A
c.1869+1345G>A (n.1869+1345G>A)
c.3199G>A (p.Val1067Ile)
c.3211G>A (p.Val1071Ile)
c.3184G>A (p.Val1062Ile)
c.3130G>A (p.Val1044Ile)
c.2530G>A (p.Val844Ile)
c.3478G>A (p.Val1160Ile)
c.3475G>A (p.Val1159Ile)
c.3394G>A (p.Val1132Ile)
c.3325G>A (p.Val1109Ile)
c.3193G>A (p.Val1065Ile)
c.3061G>A (p.Val1021Ile)
 gnomAD v4 COSMIC COSMIC
20g.32435926G>CCA408562589ASXL1c.3214G>C (p.Val1072Leu)
c.3031G>C (p.Val1011Leu)
n.5567G>C
c.1869+1345G>C (n.1869+1345G>C)
c.3199G>C (p.Val1067Leu)
c.3211G>C (p.Val1071Leu)
c.3184G>C (p.Val1062Leu)
c.3130G>C (p.Val1044Leu)
c.2530G>C (p.Val844Leu)
c.3478G>C (p.Val1160Leu)
c.3475G>C (p.Val1159Leu)
c.3394G>C (p.Val1132Leu)
c.3325G>C (p.Val1109Leu)
c.3193G>C (p.Val1065Leu)
c.3061G>C (p.Val1021Leu)
20g.32435926G>TCA408562590ASXL1c.3214G>T (p.Val1072Phe)
c.3031G>T (p.Val1011Phe)
n.5567G>T
c.1869+1345G>T (n.1869+1345G>T)
c.3199G>T (p.Val1067Phe)
c.3211G>T (p.Val1071Phe)
c.3184G>T (p.Val1062Phe)
c.3130G>T (p.Val1044Phe)
c.2530G>T (p.Val844Phe)
c.3478G>T (p.Val1160Phe)
c.3475G>T (p.Val1159Phe)
c.3394G>T (p.Val1132Phe)
c.3325G>T (p.Val1109Phe)
c.3193G>T (p.Val1065Phe)
c.3061G>T (p.Val1021Phe)
20g.32435927T>ACA9808780ASXL1c.3215T>A (p.Val1072Asp)
c.3032T>A (p.Val1011Asp)
n.5568T>A
c.1869+1346T>A (n.1869+1346T>A)
c.3200T>A (p.Val1067Asp)
c.3212T>A (p.Val1071Asp)
c.3185T>A (p.Val1062Asp)
c.3131T>A (p.Val1044Asp)
c.2531T>A (p.Val844Asp)
c.3479T>A (p.Val1160Asp)
c.3476T>A (p.Val1159Asp)
c.3395T>A (p.Val1132Asp)
c.3326T>A (p.Val1109Asp)
c.3194T>A (p.Val1065Asp)
c.3062T>A (p.Val1021Asp)
 dbSNP ExAC
20g.32435927T>CCA408562592ASXL1c.3215T>C (p.Val1072Ala)
c.3032T>C (p.Val1011Ala)
n.5568T>C
c.1869+1346T>C (n.1869+1346T>C)
c.3200T>C (p.Val1067Ala)
c.3212T>C (p.Val1071Ala)
c.3185T>C (p.Val1062Ala)
c.3131T>C (p.Val1044Ala)
c.2531T>C (p.Val844Ala)
c.3479T>C (p.Val1160Ala)
c.3476T>C (p.Val1159Ala)
c.3395T>C (p.Val1132Ala)
c.3326T>C (p.Val1109Ala)
c.3194T>C (p.Val1065Ala)
c.3062T>C (p.Val1021Ala)
 dbSNP
20g.32435927T>GCA408562591ASXL1c.3215T>G (p.Val1072Gly)
c.3032T>G (p.Val1011Gly)
n.5568T>G
c.1869+1346T>G (n.1869+1346T>G)
c.3200T>G (p.Val1067Gly)
c.3212T>G (p.Val1071Gly)
c.3185T>G (p.Val1062Gly)
c.3131T>G (p.Val1044Gly)
c.2531T>G (p.Val844Gly)
c.3479T>G (p.Val1160Gly)
c.3476T>G (p.Val1159Gly)
c.3395T>G (p.Val1132Gly)
c.3326T>G (p.Val1109Gly)
c.3194T>G (p.Val1065Gly)
c.3062T>G (p.Val1021Gly)
20g.32435927T=CA2360293461ASXL1c.3215T= (p.Val1072=)
c.3032T= (p.Val1011=)
n.5568T=
c.1869+1346T= (n.1869+1346T=)
c.3200T= (p.Val1067=)
c.3212T= (p.Val1071=)
c.3185T= (p.Val1062=)
c.3131T= (p.Val1044=)
c.2531T= (p.Val844=)
c.3479T= (p.Val1160=)
c.3476T= (p.Val1159=)
c.3395T= (p.Val1132=)
c.3326T= (p.Val1109=)
c.3194T= (p.Val1065=)
c.3062T= (p.Val1021=)
20g.32435927_32435928insTCCA2519640378ASXL1c.3215_3216insTC (p.Arg1073ProfsTer?)
c.3032_3033insTC (p.Arg1012ProfsTer?)
n.5568_5569insTC
c.1869+1346_1869+1347insTC (n.1869+1346_1869+1347insTC)
c.3200_3201insTC (p.Arg1068ProfsTer?)
c.3212_3213insTC (p.Arg1072ProfsTer?)
c.3185_3186insTC (p.Arg1063ProfsTer?)
c.3131_3132insTC (p.Arg1045ProfsTer?)
c.2531_2532insTC (p.Arg845ProfsTer?)
c.3479_3480insTC (p.Arg1161ProfsTer?)
c.3476_3477insTC (p.Arg1160ProfsTer?)
c.3395_3396insTC (p.Arg1133ProfsTer?)
c.3326_3327insTC (p.Arg1110ProfsTer?)
c.3194_3195insTC (p.Arg1066ProfsTer?)
c.3062_3063insTC (p.Arg1022ProfsTer?)
20g.32435928C>ACA510467111ASXL1c.3216C>A (p.Val1072=)
c.3033C>A (p.Val1011=)
n.5569C>A
c.1869+1347C>A (n.1869+1347C>A)
c.3201C>A (p.Val1067=)
c.3213C>A (p.Val1071=)
c.3186C>A (p.Val1062=)
c.3132C>A (p.Val1044=)
c.2532C>A (p.Val844=)
c.3480C>A (p.Val1160=)
c.3477C>A (p.Val1159=)
c.3396C>A (p.Val1132=)
c.3327C>A (p.Val1109=)
c.3195C>A (p.Val1065=)
c.3063C>A (p.Val1021=)
20g.32435928C=CA2360293462ASXL1c.3216C= (p.Val1072=)
c.3033C= (p.Val1011=)
n.5569C=
c.1869+1347C= (n.1869+1347C=)
c.3201C= (p.Val1067=)
c.3213C= (p.Val1071=)
c.3186C= (p.Val1062=)
c.3132C= (p.Val1044=)
c.2532C= (p.Val844=)
c.3480C= (p.Val1160=)
c.3477C= (p.Val1159=)
c.3396C= (p.Val1132=)
c.3327C= (p.Val1109=)
c.3195C= (p.Val1065=)
c.3063C= (p.Val1021=)
20g.32435928C>GCA510467113ASXL1c.3216C>G (p.Val1072=)
c.3033C>G (p.Val1011=)
n.5569C>G
c.1869+1347C>G (n.1869+1347C>G)
c.3201C>G (p.Val1067=)
c.3213C>G (p.Val1071=)
c.3186C>G (p.Val1062=)
c.3132C>G (p.Val1044=)
c.2532C>G (p.Val844=)
c.3480C>G (p.Val1160=)
c.3477C>G (p.Val1159=)
c.3396C>G (p.Val1132=)
c.3327C>G (p.Val1109=)
c.3195C>G (p.Val1065=)
c.3063C>G (p.Val1021=)
 dbSNP
20g.32435928C>TCA510467114ASXL1c.3216C>T (p.Val1072=)
c.3033C>T (p.Val1011=)
n.5569C>T
c.1869+1347C>T (n.1869+1347C>T)
c.3201C>T (p.Val1067=)
c.3213C>T (p.Val1071=)
c.3186C>T (p.Val1062=)
c.3132C>T (p.Val1044=)
c.2532C>T (p.Val844=)
c.3480C>T (p.Val1160=)
c.3477C>T (p.Val1159=)
c.3396C>T (p.Val1132=)
c.3327C>T (p.Val1109=)
c.3195C>T (p.Val1065=)
c.3063C>T (p.Val1021=)
20g.32435929C>ACA9808782ASXL1c.3217C>A (p.Arg1073Ser)
c.3034C>A (p.Arg1012Ser)
n.5570C>A
c.1869+1348C>A (n.1869+1348C>A)
c.3202C>A (p.Arg1068Ser)
c.3214C>A (p.Arg1072Ser)
c.3187C>A (p.Arg1063Ser)
c.3133C>A (p.Arg1045Ser)
c.2533C>A (p.Arg845Ser)
c.3481C>A (p.Arg1161Ser)
c.3478C>A (p.Arg1160Ser)
c.3397C>A (p.Arg1133Ser)
c.3328C>A (p.Arg1110Ser)
c.3196C>A (p.Arg1066Ser)
c.3064C>A (p.Arg1022Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435929C=CA2360293463ASXL1c.3217C= (p.Arg1073=)
c.3034C= (p.Arg1012=)
n.5570C=
c.1869+1348C= (n.1869+1348C=)
c.3202C= (p.Arg1068=)
c.3214C= (p.Arg1072=)
c.3187C= (p.Arg1063=)
c.3133C= (p.Arg1045=)
c.2533C= (p.Arg845=)
c.3481C= (p.Arg1161=)
c.3478C= (p.Arg1160=)
c.3397C= (p.Arg1133=)
c.3328C= (p.Arg1110=)
c.3196C= (p.Arg1066=)
c.3064C= (p.Arg1022=)
20g.32435929C>GCA408562593ASXL1c.3217C>G (p.Arg1073Gly)
c.3034C>G (p.Arg1012Gly)
n.5570C>G
c.1869+1348C>G (n.1869+1348C>G)
c.3202C>G (p.Arg1068Gly)
c.3214C>G (p.Arg1072Gly)
c.3187C>G (p.Arg1063Gly)
c.3133C>G (p.Arg1045Gly)
c.2533C>G (p.Arg845Gly)
c.3481C>G (p.Arg1161Gly)
c.3478C>G (p.Arg1160Gly)
c.3397C>G (p.Arg1133Gly)
c.3328C>G (p.Arg1110Gly)
c.3196C>G (p.Arg1066Gly)
c.3064C>G (p.Arg1022Gly)
20g.32435929C>TCA9808781ASXL1c.3217C>T (p.Arg1073Cys)
c.3034C>T (p.Arg1012Cys)
n.5570C>T
c.1869+1348C>T (n.1869+1348C>T)
c.3202C>T (p.Arg1068Cys)
c.3214C>T (p.Arg1072Cys)
c.3187C>T (p.Arg1063Cys)
c.3133C>T (p.Arg1045Cys)
c.2533C>T (p.Arg845Cys)
c.3481C>T (p.Arg1161Cys)
c.3478C>T (p.Arg1160Cys)
c.3397C>T (p.Arg1133Cys)
c.3328C>T (p.Arg1110Cys)
c.3196C>T (p.Arg1066Cys)
c.3064C>T (p.Arg1022Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435930G>ACA408562594ASXL1c.3218G>A (p.Arg1073His)
c.3035G>A (p.Arg1012His)
n.5571G>A
c.1869+1349G>A (n.1869+1349G>A)
c.3203G>A (p.Arg1068His)
c.3215G>A (p.Arg1072His)
c.3188G>A (p.Arg1063His)
c.3134G>A (p.Arg1045His)
c.2534G>A (p.Arg845His)
c.3482G>A (p.Arg1161His)
c.3479G>A (p.Arg1160His)
c.3398G>A (p.Arg1133His)
c.3329G>A (p.Arg1110His)
c.3197G>A (p.Arg1066His)
c.3065G>A (p.Arg1022His)
 dbSNP gnomAD v2 gnomAD v4
20g.32435930G>CCA408562595ASXL1c.3218G>C (p.Arg1073Pro)
c.3035G>C (p.Arg1012Pro)
n.5571G>C
c.1869+1349G>C (n.1869+1349G>C)
c.3203G>C (p.Arg1068Pro)
c.3215G>C (p.Arg1072Pro)
c.3188G>C (p.Arg1063Pro)
c.3134G>C (p.Arg1045Pro)
c.2534G>C (p.Arg845Pro)
c.3482G>C (p.Arg1161Pro)
c.3479G>C (p.Arg1160Pro)
c.3398G>C (p.Arg1133Pro)
c.3329G>C (p.Arg1110Pro)
c.3197G>C (p.Arg1066Pro)
c.3065G>C (p.Arg1022Pro)
 dbSNP gnomAD v2 gnomAD v4
20g.32435930G=CA2360293464ASXL1c.3218G= (p.Arg1073=)
c.3035G= (p.Arg1012=)
n.5571G=
c.1869+1349G= (n.1869+1349G=)
c.3203G= (p.Arg1068=)
c.3215G= (p.Arg1072=)
c.3188G= (p.Arg1063=)
c.3134G= (p.Arg1045=)
c.2534G= (p.Arg845=)
c.3482G= (p.Arg1161=)
c.3479G= (p.Arg1160=)
c.3398G= (p.Arg1133=)
c.3329G= (p.Arg1110=)
c.3197G= (p.Arg1066=)
c.3065G= (p.Arg1022=)
20g.32435930G>TCA408562596ASXL1c.3218G>T (p.Arg1073Leu)
c.3035G>T (p.Arg1012Leu)
n.5571G>T
c.1869+1349G>T (n.1869+1349G>T)
c.3203G>T (p.Arg1068Leu)
c.3215G>T (p.Arg1072Leu)
c.3188G>T (p.Arg1063Leu)
c.3134G>T (p.Arg1045Leu)
c.2534G>T (p.Arg845Leu)
c.3482G>T (p.Arg1161Leu)
c.3479G>T (p.Arg1160Leu)
c.3398G>T (p.Arg1133Leu)
c.3329G>T (p.Arg1110Leu)
c.3197G>T (p.Arg1066Leu)
c.3065G>T (p.Arg1022Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32435931C>ACA510467116ASXL1c.3219C>A (p.Arg1073=)
c.3036C>A (p.Arg1012=)
n.5572C>A
c.1869+1350C>A (n.1869+1350C>A)
c.3204C>A (p.Arg1068=)
c.3216C>A (p.Arg1072=)
c.3189C>A (p.Arg1063=)
c.3135C>A (p.Arg1045=)
c.2535C>A (p.Arg845=)
c.3483C>A (p.Arg1161=)
c.3480C>A (p.Arg1160=)
c.3399C>A (p.Arg1133=)
c.3330C>A (p.Arg1110=)
c.3198C>A (p.Arg1066=)
c.3066C>A (p.Arg1022=)
20g.32435931C>GCA510467118ASXL1c.3219C>G (p.Arg1073=)
c.3036C>G (p.Arg1012=)
n.5572C>G
c.1869+1350C>G (n.1869+1350C>G)
c.3204C>G (p.Arg1068=)
c.3216C>G (p.Arg1072=)
c.3189C>G (p.Arg1063=)
c.3135C>G (p.Arg1045=)
c.2535C>G (p.Arg845=)
c.3483C>G (p.Arg1161=)
c.3480C>G (p.Arg1160=)
c.3399C>G (p.Arg1133=)
c.3330C>G (p.Arg1110=)
c.3198C>G (p.Arg1066=)
c.3066C>G (p.Arg1022=)
20g.32435931C>TCA510467117ASXL1c.3219C>T (p.Arg1073=)
c.3036C>T (p.Arg1012=)
n.5572C>T
c.1869+1350C>T (n.1869+1350C>T)
c.3204C>T (p.Arg1068=)
c.3216C>T (p.Arg1072=)
c.3189C>T (p.Arg1063=)
c.3135C>T (p.Arg1045=)
c.2535C>T (p.Arg845=)
c.3483C>T (p.Arg1161=)
c.3480C>T (p.Arg1160=)
c.3399C>T (p.Arg1133=)
c.3330C>T (p.Arg1110=)
c.3198C>T (p.Arg1066=)
c.3066C>T (p.Arg1022=)
20g.32435932C>ACA408562597ASXL1c.3220C>A (p.Gln1074Lys)
c.3037C>A (p.Gln1013Lys)
n.5573C>A
c.1869+1351C>A (n.1869+1351C>A)
c.3205C>A (p.Gln1069Lys)
c.3217C>A (p.Gln1073Lys)
c.3190C>A (p.Gln1064Lys)
c.3136C>A (p.Gln1046Lys)
c.2536C>A (p.Gln846Lys)
c.3484C>A (p.Gln1162Lys)
c.3481C>A (p.Gln1161Lys)
c.3400C>A (p.Gln1134Lys)
c.3331C>A (p.Gln1111Lys)
c.3199C>A (p.Gln1067Lys)
c.3067C>A (p.Gln1023Lys)
20g.32435932C=CA2360293465ASXL1c.3220C= (p.Gln1074=)
c.3037C= (p.Gln1013=)
n.5573C=
c.1869+1351C= (n.1869+1351C=)
c.3205C= (p.Gln1069=)
c.3217C= (p.Gln1073=)
c.3190C= (p.Gln1064=)
c.3136C= (p.Gln1046=)
c.2536C= (p.Gln846=)
c.3484C= (p.Gln1162=)
c.3481C= (p.Gln1161=)
c.3400C= (p.Gln1134=)
c.3331C= (p.Gln1111=)
c.3199C= (p.Gln1067=)
c.3067C= (p.Gln1023=)
20g.32435932C>GCA408562598ASXL1c.3220C>G (p.Gln1074Glu)
c.3037C>G (p.Gln1013Glu)
n.5573C>G
c.1869+1351C>G (n.1869+1351C>G)
c.3205C>G (p.Gln1069Glu)
c.3217C>G (p.Gln1073Glu)
c.3190C>G (p.Gln1064Glu)
c.3136C>G (p.Gln1046Glu)
c.2536C>G (p.Gln846Glu)
c.3484C>G (p.Gln1162Glu)
c.3481C>G (p.Gln1161Glu)
c.3400C>G (p.Gln1134Glu)
c.3331C>G (p.Gln1111Glu)
c.3199C>G (p.Gln1067Glu)
c.3067C>G (p.Gln1023Glu)
 dbSNP gnomAD v3 gnomAD v4
20g.32435932C>TCA408562599ASXL1c.3220C>T (p.Gln1074Ter)
c.3037C>T (p.Gln1013Ter)
n.5573C>T
c.1869+1351C>T (n.1869+1351C>T)
c.3205C>T (p.Gln1069Ter)
c.3217C>T (p.Gln1073Ter)
c.3190C>T (p.Gln1064Ter)
c.3136C>T (p.Gln1046Ter)
c.2536C>T (p.Gln846Ter)
c.3484C>T (p.Gln1162Ter)
c.3481C>T (p.Gln1161Ter)
c.3400C>T (p.Gln1134Ter)
c.3331C>T (p.Gln1111Ter)
c.3199C>T (p.Gln1067Ter)
c.3067C>T (p.Gln1023Ter)
20g.32435933A>CCA408562600ASXL1c.3221A>C (p.Gln1074Pro)
c.3038A>C (p.Gln1013Pro)
n.5574A>C
c.1869+1352A>C (n.1869+1352A>C)
c.3206A>C (p.Gln1069Pro)
c.3218A>C (p.Gln1073Pro)
c.3191A>C (p.Gln1064Pro)
c.3137A>C (p.Gln1046Pro)
c.2537A>C (p.Gln846Pro)
c.3485A>C (p.Gln1162Pro)
c.3482A>C (p.Gln1161Pro)
c.3401A>C (p.Gln1134Pro)
c.3332A>C (p.Gln1111Pro)
c.3200A>C (p.Gln1067Pro)
c.3068A>C (p.Gln1023Pro)
20g.32435933A>GCA408562601ASXL1c.3221A>G (p.Gln1074Arg)
c.3038A>G (p.Gln1013Arg)
n.5574A>G
c.1869+1352A>G (n.1869+1352A>G)
c.3206A>G (p.Gln1069Arg)
c.3218A>G (p.Gln1073Arg)
c.3191A>G (p.Gln1064Arg)
c.3137A>G (p.Gln1046Arg)
c.2537A>G (p.Gln846Arg)
c.3485A>G (p.Gln1162Arg)
c.3482A>G (p.Gln1161Arg)
c.3401A>G (p.Gln1134Arg)
c.3332A>G (p.Gln1111Arg)
c.3200A>G (p.Gln1067Arg)
c.3068A>G (p.Gln1023Arg)
 gnomAD v4
20g.32435933A>TCA408562602ASXL1c.3221A>T (p.Gln1074Leu)
c.3038A>T (p.Gln1013Leu)
n.5574A>T
c.1869+1352A>T (n.1869+1352A>T)
c.3206A>T (p.Gln1069Leu)
c.3218A>T (p.Gln1073Leu)
c.3191A>T (p.Gln1064Leu)
c.3137A>T (p.Gln1046Leu)
c.2537A>T (p.Gln846Leu)
c.3485A>T (p.Gln1162Leu)
c.3482A>T (p.Gln1161Leu)
c.3401A>T (p.Gln1134Leu)
c.3332A>T (p.Gln1111Leu)
c.3200A>T (p.Gln1067Leu)
c.3068A>T (p.Gln1023Leu)
20g.32435934A=CA2360293466ASXL1c.3222A= (p.Gln1074=)
c.3039A= (p.Gln1013=)
n.5575A=
c.1869+1353A= (n.1869+1353A=)
c.3207A= (p.Gln1069=)
c.3219A= (p.Gln1073=)
c.3192A= (p.Gln1064=)
c.3138A= (p.Gln1046=)
c.2538A= (p.Gln846=)
c.3486A= (p.Gln1162=)
c.3483A= (p.Gln1161=)
c.3402A= (p.Gln1134=)
c.3333A= (p.Gln1111=)
c.3201A= (p.Gln1067=)
c.3069A= (p.Gln1023=)
20g.32435934A>CCA408562603ASXL1c.3222A>C (p.Gln1074His)
c.3039A>C (p.Gln1013His)
n.5575A>C
c.1869+1353A>C (n.1869+1353A>C)
c.3207A>C (p.Gln1069His)
c.3219A>C (p.Gln1073His)
c.3192A>C (p.Gln1064His)
c.3138A>C (p.Gln1046His)
c.2538A>C (p.Gln846His)
c.3486A>C (p.Gln1162His)
c.3483A>C (p.Gln1161His)
c.3402A>C (p.Gln1134His)
c.3333A>C (p.Gln1111His)
c.3201A>C (p.Gln1067His)
c.3069A>C (p.Gln1023His)
20g.32435934A>GCA510467122ASXL1c.3222A>G (p.Gln1074=)
c.3039A>G (p.Gln1013=)
n.5575A>G
c.1869+1353A>G (n.1869+1353A>G)
c.3207A>G (p.Gln1069=)
c.3219A>G (p.Gln1073=)
c.3192A>G (p.Gln1064=)
c.3138A>G (p.Gln1046=)
c.2538A>G (p.Gln846=)
c.3486A>G (p.Gln1162=)
c.3483A>G (p.Gln1161=)
c.3402A>G (p.Gln1134=)
c.3333A>G (p.Gln1111=)
c.3201A>G (p.Gln1067=)
c.3069A>G (p.Gln1023=)
 dbSNP gnomAD v3 gnomAD v4
20g.32435934A>TCA408562604ASXL1c.3222A>T (p.Gln1074His)
c.3039A>T (p.Gln1013His)
n.5575A>T
c.1869+1353A>T (n.1869+1353A>T)
c.3207A>T (p.Gln1069His)
c.3219A>T (p.Gln1073His)
c.3192A>T (p.Gln1064His)
c.3138A>T (p.Gln1046His)
c.2538A>T (p.Gln846His)
c.3486A>T (p.Gln1162His)
c.3483A>T (p.Gln1161His)
c.3402A>T (p.Gln1134His)
c.3333A>T (p.Gln1111His)
c.3201A>T (p.Gln1067His)
c.3069A>T (p.Gln1023His)
20g.32435935A>CCA408562607ASXL1c.3223A>C (p.Lys1075Gln)
c.3040A>C (p.Lys1014Gln)
n.5576A>C
c.1869+1354A>C (n.1869+1354A>C)
c.3208A>C (p.Lys1070Gln)
c.3220A>C (p.Lys1074Gln)
c.3193A>C (p.Lys1065Gln)
c.3139A>C (p.Lys1047Gln)
c.2539A>C (p.Lys847Gln)
c.3487A>C (p.Lys1163Gln)
c.3484A>C (p.Lys1162Gln)
c.3403A>C (p.Lys1135Gln)
c.3334A>C (p.Lys1112Gln)
c.3202A>C (p.Lys1068Gln)
c.3070A>C (p.Lys1024Gln)
20g.32435935A>GCA408562606ASXL1c.3223A>G (p.Lys1075Glu)
c.3040A>G (p.Lys1014Glu)
n.5576A>G
c.1869+1354A>G (n.1869+1354A>G)
c.3208A>G (p.Lys1070Glu)
c.3220A>G (p.Lys1074Glu)
c.3193A>G (p.Lys1065Glu)
c.3139A>G (p.Lys1047Glu)
c.2539A>G (p.Lys847Glu)
c.3487A>G (p.Lys1163Glu)
c.3484A>G (p.Lys1162Glu)
c.3403A>G (p.Lys1135Glu)
c.3334A>G (p.Lys1112Glu)
c.3202A>G (p.Lys1068Glu)
c.3070A>G (p.Lys1024Glu)
20g.32435935A>TCA408562605ASXL1c.3223A>T (p.Lys1075Ter)
c.3040A>T (p.Lys1014Ter)
n.5576A>T
c.1869+1354A>T (n.1869+1354A>T)
c.3208A>T (p.Lys1070Ter)
c.3220A>T (p.Lys1074Ter)
c.3193A>T (p.Lys1065Ter)
c.3139A>T (p.Lys1047Ter)
c.2539A>T (p.Lys847Ter)
c.3487A>T (p.Lys1163Ter)
c.3484A>T (p.Lys1162Ter)
c.3403A>T (p.Lys1135Ter)
c.3334A>T (p.Lys1112Ter)
c.3202A>T (p.Lys1068Ter)
c.3070A>T (p.Lys1024Ter)
20g.32435936A>CCA408562608ASXL1c.3224A>C (p.Lys1075Thr)
c.3041A>C (p.Lys1014Thr)
n.5577A>C
c.1869+1355A>C (n.1869+1355A>C)
c.3209A>C (p.Lys1070Thr)
c.3221A>C (p.Lys1074Thr)
c.3194A>C (p.Lys1065Thr)
c.3140A>C (p.Lys1047Thr)
c.2540A>C (p.Lys847Thr)
c.3488A>C (p.Lys1163Thr)
c.3485A>C (p.Lys1162Thr)
c.3404A>C (p.Lys1135Thr)
c.3335A>C (p.Lys1112Thr)
c.3203A>C (p.Lys1068Thr)
c.3071A>C (p.Lys1024Thr)
20g.32435936A>GCA408562609ASXL1c.3224A>G (p.Lys1075Arg)
c.3041A>G (p.Lys1014Arg)
n.5577A>G
c.1869+1355A>G (n.1869+1355A>G)
c.3209A>G (p.Lys1070Arg)
c.3221A>G (p.Lys1074Arg)
c.3194A>G (p.Lys1065Arg)
c.3140A>G (p.Lys1047Arg)
c.2540A>G (p.Lys847Arg)
c.3488A>G (p.Lys1163Arg)
c.3485A>G (p.Lys1162Arg)
c.3404A>G (p.Lys1135Arg)
c.3335A>G (p.Lys1112Arg)
c.3203A>G (p.Lys1068Arg)
c.3071A>G (p.Lys1024Arg)
 dbSNP gnomAD v4
20g.32435936A>TCA408562610ASXL1c.3224A>T (p.Lys1075Met)
c.3041A>T (p.Lys1014Met)
n.5577A>T
c.1869+1355A>T (n.1869+1355A>T)
c.3209A>T (p.Lys1070Met)
c.3221A>T (p.Lys1074Met)
c.3194A>T (p.Lys1065Met)
c.3140A>T (p.Lys1047Met)
c.2540A>T (p.Lys847Met)
c.3488A>T (p.Lys1163Met)
c.3485A>T (p.Lys1162Met)
c.3404A>T (p.Lys1135Met)
c.3335A>T (p.Lys1112Met)
c.3203A>T (p.Lys1068Met)
c.3071A>T (p.Lys1024Met)
20g.32435937_32435938delCA2535703173ASXL1c.3225_3226del (p.Lys1075AsnfsTer11)
c.3042_3043del (p.Lys1014AsnfsTer11)
n.5578_5579del
c.1869+1356_1869+1357del (n.1869+1356_1869+1357del)
c.3210_3211del (p.Lys1070AsnfsTer11)
c.3222_3223del (p.Lys1074AsnfsTer11)
c.3195_3196del (p.Lys1065AsnfsTer11)
c.3141_3142del (p.Lys1047AsnfsTer11)
c.2541_2542del (p.Lys847AsnfsTer11)
c.3489_3490del (p.Lys1163AsnfsTer11)
c.3486_3487del (p.Lys1162AsnfsTer11)
c.3405_3406del (p.Lys1135AsnfsTer11)
c.3336_3337del (p.Lys1112AsnfsTer11)
c.3204_3205del (p.Lys1068AsnfsTer11)
c.3072_3073del (p.Lys1024AsnfsTer11)
20g.32435937G>ACA510467126ASXL1c.3225G>A (p.Lys1075=)
c.3042G>A (p.Lys1014=)
n.5578G>A
c.1869+1356G>A (n.1869+1356G>A)
c.3210G>A (p.Lys1070=)
c.3222G>A (p.Lys1074=)
c.3195G>A (p.Lys1065=)
c.3141G>A (p.Lys1047=)
c.2541G>A (p.Lys847=)
c.3489G>A (p.Lys1163=)
c.3486G>A (p.Lys1162=)
c.3405G>A (p.Lys1135=)
c.3336G>A (p.Lys1112=)
c.3204G>A (p.Lys1068=)
c.3072G>A (p.Lys1024=)
 dbSNP
20g.32435937G>CCA408562611ASXL1c.3225G>C (p.Lys1075Asn)
c.3042G>C (p.Lys1014Asn)
n.5578G>C
c.1869+1356G>C (n.1869+1356G>C)
c.3210G>C (p.Lys1070Asn)
c.3222G>C (p.Lys1074Asn)
c.3195G>C (p.Lys1065Asn)
c.3141G>C (p.Lys1047Asn)
c.2541G>C (p.Lys847Asn)
c.3489G>C (p.Lys1163Asn)
c.3486G>C (p.Lys1162Asn)
c.3405G>C (p.Lys1135Asn)
c.3336G>C (p.Lys1112Asn)
c.3204G>C (p.Lys1068Asn)
c.3072G>C (p.Lys1024Asn)
20g.32435937G=CA2360293467ASXL1c.3225G= (p.Lys1075=)
c.3042G= (p.Lys1014=)
n.5578G=
c.1869+1356G= (n.1869+1356G=)
c.3210G= (p.Lys1070=)
c.3222G= (p.Lys1074=)
c.3195G= (p.Lys1065=)
c.3141G= (p.Lys1047=)
c.2541G= (p.Lys847=)
c.3489G= (p.Lys1163=)
c.3486G= (p.Lys1162=)
c.3405G= (p.Lys1135=)
c.3336G= (p.Lys1112=)
c.3204G= (p.Lys1068=)
c.3072G= (p.Lys1024=)
20g.32435937G>TCA408562612ASXL1c.3225G>T (p.Lys1075Asn)
c.3042G>T (p.Lys1014Asn)
n.5578G>T
c.1869+1356G>T (n.1869+1356G>T)
c.3210G>T (p.Lys1070Asn)
c.3222G>T (p.Lys1074Asn)
c.3195G>T (p.Lys1065Asn)
c.3141G>T (p.Lys1047Asn)
c.2541G>T (p.Lys847Asn)
c.3489G>T (p.Lys1163Asn)
c.3486G>T (p.Lys1162Asn)
c.3405G>T (p.Lys1135Asn)
c.3336G>T (p.Lys1112Asn)
c.3204G>T (p.Lys1068Asn)
c.3072G>T (p.Lys1024Asn)
20g.32435938A>CCA408562613ASXL1c.3226A>C (p.Ile1076Leu)
c.3043A>C (p.Ile1015Leu)
n.5579A>C
c.1869+1357A>C (n.1869+1357A>C)
c.3211A>C (p.Ile1071Leu)
c.3223A>C (p.Ile1075Leu)
c.3196A>C (p.Ile1066Leu)
c.3142A>C (p.Ile1048Leu)
c.2542A>C (p.Ile848Leu)
c.3490A>C (p.Ile1164Leu)
c.3487A>C (p.Ile1163Leu)
c.3406A>C (p.Ile1136Leu)
c.3337A>C (p.Ile1113Leu)
c.3205A>C (p.Ile1069Leu)
c.3073A>C (p.Ile1025Leu)
20g.32435938A>GCA408562614ASXL1c.3226A>G (p.Ile1076Val)
c.3043A>G (p.Ile1015Val)
n.5579A>G
c.1869+1357A>G (n.1869+1357A>G)
c.3211A>G (p.Ile1071Val)
c.3223A>G (p.Ile1075Val)
c.3196A>G (p.Ile1066Val)
c.3142A>G (p.Ile1048Val)
c.2542A>G (p.Ile848Val)
c.3490A>G (p.Ile1164Val)
c.3487A>G (p.Ile1163Val)
c.3406A>G (p.Ile1136Val)
c.3337A>G (p.Ile1113Val)
c.3205A>G (p.Ile1069Val)
c.3073A>G (p.Ile1025Val)
20g.32435938A>TCA408562615ASXL1c.3226A>T (p.Ile1076Phe)
c.3043A>T (p.Ile1015Phe)
n.5579A>T
c.1869+1357A>T (n.1869+1357A>T)
c.3211A>T (p.Ile1071Phe)
c.3223A>T (p.Ile1075Phe)
c.3196A>T (p.Ile1066Phe)
c.3142A>T (p.Ile1048Phe)
c.2542A>T (p.Ile848Phe)
c.3490A>T (p.Ile1164Phe)
c.3487A>T (p.Ile1163Phe)
c.3406A>T (p.Ile1136Phe)
c.3337A>T (p.Ile1113Phe)
c.3205A>T (p.Ile1069Phe)
c.3073A>T (p.Ile1025Phe)
20g.32435939T>ACA408562616ASXL1c.3227T>A (p.Ile1076Asn)
c.3044T>A (p.Ile1015Asn)
n.5580T>A
c.1869+1358T>A (n.1869+1358T>A)
c.3212T>A (p.Ile1071Asn)
c.3224T>A (p.Ile1075Asn)
c.3197T>A (p.Ile1066Asn)
c.3143T>A (p.Ile1048Asn)
c.2543T>A (p.Ile848Asn)
c.3491T>A (p.Ile1164Asn)
c.3488T>A (p.Ile1163Asn)
c.3407T>A (p.Ile1136Asn)
c.3338T>A (p.Ile1113Asn)
c.3206T>A (p.Ile1069Asn)
c.3074T>A (p.Ile1025Asn)
20g.32435939T>CCA408562617ASXL1c.3227T>C (p.Ile1076Thr)
c.3044T>C (p.Ile1015Thr)
n.5580T>C
c.1869+1358T>C (n.1869+1358T>C)
c.3212T>C (p.Ile1071Thr)
c.3224T>C (p.Ile1075Thr)
c.3197T>C (p.Ile1066Thr)
c.3143T>C (p.Ile1048Thr)
c.2543T>C (p.Ile848Thr)
c.3491T>C (p.Ile1164Thr)
c.3488T>C (p.Ile1163Thr)
c.3407T>C (p.Ile1136Thr)
c.3338T>C (p.Ile1113Thr)
c.3206T>C (p.Ile1069Thr)
c.3074T>C (p.Ile1025Thr)
 ClinVar gnomAD v4
20g.32435939T>GCA408562618ASXL1c.3227T>G (p.Ile1076Ser)
c.3044T>G (p.Ile1015Ser)
n.5580T>G
c.1869+1358T>G (n.1869+1358T>G)
c.3212T>G (p.Ile1071Ser)
c.3224T>G (p.Ile1075Ser)
c.3197T>G (p.Ile1066Ser)
c.3143T>G (p.Ile1048Ser)
c.2543T>G (p.Ile848Ser)
c.3491T>G (p.Ile1164Ser)
c.3488T>G (p.Ile1163Ser)
c.3407T>G (p.Ile1136Ser)
c.3338T>G (p.Ile1113Ser)
c.3206T>G (p.Ile1069Ser)
c.3074T>G (p.Ile1025Ser)
20g.32435940C>ACA510467131ASXL1c.3228C>A (p.Ile1076=)
c.3045C>A (p.Ile1015=)
n.5581C>A
c.1869+1359C>A (n.1869+1359C>A)
c.3213C>A (p.Ile1071=)
c.3225C>A (p.Ile1075=)
c.3198C>A (p.Ile1066=)
c.3144C>A (p.Ile1048=)
c.2544C>A (p.Ile848=)
c.3492C>A (p.Ile1164=)
c.3489C>A (p.Ile1163=)
c.3408C>A (p.Ile1136=)
c.3339C>A (p.Ile1113=)
c.3207C>A (p.Ile1069=)
c.3075C>A (p.Ile1025=)
20g.32435940C>GCA408562619ASXL1c.3228C>G (p.Ile1076Met)
c.3045C>G (p.Ile1015Met)
n.5581C>G
c.1869+1359C>G (n.1869+1359C>G)
c.3213C>G (p.Ile1071Met)
c.3225C>G (p.Ile1075Met)
c.3198C>G (p.Ile1066Met)
c.3144C>G (p.Ile1048Met)
c.2544C>G (p.Ile848Met)
c.3492C>G (p.Ile1164Met)
c.3489C>G (p.Ile1163Met)
c.3408C>G (p.Ile1136Met)
c.3339C>G (p.Ile1113Met)
c.3207C>G (p.Ile1069Met)
c.3075C>G (p.Ile1025Met)
20g.32435940C>TCA510467132ASXL1c.3228C>T (p.Ile1076=)
c.3045C>T (p.Ile1015=)
n.5581C>T
c.1869+1359C>T (n.1869+1359C>T)
c.3213C>T (p.Ile1071=)
c.3225C>T (p.Ile1075=)
c.3198C>T (p.Ile1066=)
c.3144C>T (p.Ile1048=)
c.2544C>T (p.Ile848=)
c.3492C>T (p.Ile1164=)
c.3489C>T (p.Ile1163=)
c.3408C>T (p.Ile1136=)
c.3339C>T (p.Ile1113=)
c.3207C>T (p.Ile1069=)
c.3075C>T (p.Ile1025=)
 dbSNP
20g.32435941C>ACA408562622ASXL1c.3229C>A (p.Pro1077Thr)
c.3046C>A (p.Pro1016Thr)
n.5582C>A
c.1869+1360C>A (n.1869+1360C>A)
c.3214C>A (p.Pro1072Thr)
c.3226C>A (p.Pro1076Thr)
c.3199C>A (p.Pro1067Thr)
c.3145C>A (p.Pro1049Thr)
c.2545C>A (p.Pro849Thr)
c.3493C>A (p.Pro1165Thr)
c.3490C>A (p.Pro1164Thr)
c.3409C>A (p.Pro1137Thr)
c.3340C>A (p.Pro1114Thr)
c.3208C>A (p.Pro1070Thr)
c.3076C>A (p.Pro1026Thr)
20g.32435941C=CA2360293468ASXL1c.3229C= (p.Pro1077=)
c.3046C= (p.Pro1016=)
n.5582C=
c.1869+1360C= (n.1869+1360C=)
c.3214C= (p.Pro1072=)
c.3226C= (p.Pro1076=)
c.3199C= (p.Pro1067=)
c.3145C= (p.Pro1049=)
c.2545C= (p.Pro849=)
c.3493C= (p.Pro1165=)
c.3490C= (p.Pro1164=)
c.3409C= (p.Pro1137=)
c.3340C= (p.Pro1114=)
c.3208C= (p.Pro1070=)
c.3076C= (p.Pro1026=)
20g.32435941C>GCA408562621ASXL1c.3229C>G (p.Pro1077Ala)
c.3046C>G (p.Pro1016Ala)
n.5582C>G
c.1869+1360C>G (n.1869+1360C>G)
c.3214C>G (p.Pro1072Ala)
c.3226C>G (p.Pro1076Ala)
c.3199C>G (p.Pro1067Ala)
c.3145C>G (p.Pro1049Ala)
c.2545C>G (p.Pro849Ala)
c.3493C>G (p.Pro1165Ala)
c.3490C>G (p.Pro1164Ala)
c.3409C>G (p.Pro1137Ala)
c.3340C>G (p.Pro1114Ala)
c.3208C>G (p.Pro1070Ala)
c.3076C>G (p.Pro1026Ala)
20g.32435941C>TCA408562620ASXL1c.3229C>T (p.Pro1077Ser)
c.3046C>T (p.Pro1016Ser)
n.5582C>T
c.1869+1360C>T (n.1869+1360C>T)
c.3214C>T (p.Pro1072Ser)
c.3226C>T (p.Pro1076Ser)
c.3199C>T (p.Pro1067Ser)
c.3145C>T (p.Pro1049Ser)
c.2545C>T (p.Pro849Ser)
c.3493C>T (p.Pro1165Ser)
c.3490C>T (p.Pro1164Ser)
c.3409C>T (p.Pro1137Ser)
c.3340C>T (p.Pro1114Ser)
c.3208C>T (p.Pro1070Ser)
c.3076C>T (p.Pro1026Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.32435942C>ACA408562625ASXL1c.3230C>A (p.Pro1077Gln)
c.3047C>A (p.Pro1016Gln)
n.5583C>A
c.1869+1361C>A (n.1869+1361C>A)
c.3215C>A (p.Pro1072Gln)
c.3227C>A (p.Pro1076Gln)
c.3200C>A (p.Pro1067Gln)
c.3146C>A (p.Pro1049Gln)
c.2546C>A (p.Pro849Gln)
c.3494C>A (p.Pro1165Gln)
c.3491C>A (p.Pro1164Gln)
c.3410C>A (p.Pro1137Gln)
c.3341C>A (p.Pro1114Gln)
c.3209C>A (p.Pro1070Gln)
c.3077C>A (p.Pro1026Gln)
 dbSNP
20g.32435942C=CA2360293469ASXL1c.3230C= (p.Pro1077=)
c.3047C= (p.Pro1016=)
n.5583C=
c.1869+1361C= (n.1869+1361C=)
c.3215C= (p.Pro1072=)
c.3227C= (p.Pro1076=)
c.3200C= (p.Pro1067=)
c.3146C= (p.Pro1049=)
c.2546C= (p.Pro849=)
c.3494C= (p.Pro1165=)
c.3491C= (p.Pro1164=)
c.3410C= (p.Pro1137=)
c.3341C= (p.Pro1114=)
c.3209C= (p.Pro1070=)
c.3077C= (p.Pro1026=)
20g.32435942C>GCA408562623ASXL1c.3230C>G (p.Pro1077Arg)
c.3047C>G (p.Pro1016Arg)
n.5583C>G
c.1869+1361C>G (n.1869+1361C>G)
c.3215C>G (p.Pro1072Arg)
c.3227C>G (p.Pro1076Arg)
c.3200C>G (p.Pro1067Arg)
c.3146C>G (p.Pro1049Arg)
c.2546C>G (p.Pro849Arg)
c.3494C>G (p.Pro1165Arg)
c.3491C>G (p.Pro1164Arg)
c.3410C>G (p.Pro1137Arg)
c.3341C>G (p.Pro1114Arg)
c.3209C>G (p.Pro1070Arg)
c.3077C>G (p.Pro1026Arg)
 dbSNP gnomAD v4
20g.32435942C>TCA408562624ASXL1c.3230C>T (p.Pro1077Leu)
c.3047C>T (p.Pro1016Leu)
n.5583C>T
c.1869+1361C>T (n.1869+1361C>T)
c.3215C>T (p.Pro1072Leu)
c.3227C>T (p.Pro1076Leu)
c.3200C>T (p.Pro1067Leu)
c.3146C>T (p.Pro1049Leu)
c.2546C>T (p.Pro849Leu)
c.3494C>T (p.Pro1165Leu)
c.3491C>T (p.Pro1164Leu)
c.3410C>T (p.Pro1137Leu)
c.3341C>T (p.Pro1114Leu)
c.3209C>T (p.Pro1070Leu)
c.3077C>T (p.Pro1026Leu)
20g.32435943A>CCA510467137ASXL1c.3231A>C (p.Pro1077=)
c.3048A>C (p.Pro1016=)
n.5584A>C
c.1869+1362A>C (n.1869+1362A>C)
c.3216A>C (p.Pro1072=)
c.3228A>C (p.Pro1076=)
c.3201A>C (p.Pro1067=)
c.3147A>C (p.Pro1049=)
c.2547A>C (p.Pro849=)
c.3495A>C (p.Pro1165=)
c.3492A>C (p.Pro1164=)
c.3411A>C (p.Pro1137=)
c.3342A>C (p.Pro1114=)
c.3210A>C (p.Pro1070=)
c.3078A>C (p.Pro1026=)
20g.32435943A>GCA510467139ASXL1c.3231A>G (p.Pro1077=)
c.3048A>G (p.Pro1016=)
n.5584A>G
c.1869+1362A>G (n.1869+1362A>G)
c.3216A>G (p.Pro1072=)
c.3228A>G (p.Pro1076=)
c.3201A>G (p.Pro1067=)
c.3147A>G (p.Pro1049=)
c.2547A>G (p.Pro849=)
c.3495A>G (p.Pro1165=)
c.3492A>G (p.Pro1164=)
c.3411A>G (p.Pro1137=)
c.3342A>G (p.Pro1114=)
c.3210A>G (p.Pro1070=)
c.3078A>G (p.Pro1026=)
 gnomAD v4
20g.32435943A>TCA510467138ASXL1c.3231A>T (p.Pro1077=)
c.3048A>T (p.Pro1016=)
n.5584A>T
c.1869+1362A>T (n.1869+1362A>T)
c.3216A>T (p.Pro1072=)
c.3228A>T (p.Pro1076=)
c.3201A>T (p.Pro1067=)
c.3147A>T (p.Pro1049=)
c.2547A>T (p.Pro849=)
c.3495A>T (p.Pro1165=)
c.3492A>T (p.Pro1164=)
c.3411A>T (p.Pro1137=)
c.3342A>T (p.Pro1114=)
c.3210A>T (p.Pro1070=)
c.3078A>T (p.Pro1026=)
20g.32435944G>ACA408562626ASXL1c.3232G>A (p.Asp1078Asn)
c.3049G>A (p.Asp1017Asn)
n.5585G>A
c.1869+1363G>A (n.1869+1363G>A)
c.3217G>A (p.Asp1073Asn)
c.3229G>A (p.Asp1077Asn)
c.3202G>A (p.Asp1068Asn)
c.3148G>A (p.Asp1050Asn)
c.2548G>A (p.Asp850Asn)
c.3496G>A (p.Asp1166Asn)
c.3493G>A (p.Asp1165Asn)
c.3412G>A (p.Asp1138Asn)
c.3343G>A (p.Asp1115Asn)
c.3211G>A (p.Asp1071Asn)
c.3079G>A (p.Asp1027Asn)
20g.32435944G>CCA408562627ASXL1c.3232G>C (p.Asp1078His)
c.3049G>C (p.Asp1017His)
n.5585G>C
c.1869+1363G>C (n.1869+1363G>C)
c.3217G>C (p.Asp1073His)
c.3229G>C (p.Asp1077His)
c.3202G>C (p.Asp1068His)
c.3148G>C (p.Asp1050His)
c.2548G>C (p.Asp850His)
c.3496G>C (p.Asp1166His)
c.3493G>C (p.Asp1165His)
c.3412G>C (p.Asp1138His)
c.3343G>C (p.Asp1115His)
c.3211G>C (p.Asp1071His)
c.3079G>C (p.Asp1027His)
 dbSNP
20g.32435944G=CA2360293470ASXL1c.3232G= (p.Asp1078=)
c.3049G= (p.Asp1017=)
n.5585G=
c.1869+1363G= (n.1869+1363G=)
c.3217G= (p.Asp1073=)
c.3229G= (p.Asp1077=)
c.3202G= (p.Asp1068=)
c.3148G= (p.Asp1050=)
c.2548G= (p.Asp850=)
c.3496G= (p.Asp1166=)
c.3493G= (p.Asp1165=)
c.3412G= (p.Asp1138=)
c.3343G= (p.Asp1115=)
c.3211G= (p.Asp1071=)
c.3079G= (p.Asp1027=)
20g.32435944G>TCA408562628ASXL1c.3232G>T (p.Asp1078Tyr)
c.3049G>T (p.Asp1017Tyr)
n.5585G>T
c.1869+1363G>T (n.1869+1363G>T)
c.3217G>T (p.Asp1073Tyr)
c.3229G>T (p.Asp1077Tyr)
c.3202G>T (p.Asp1068Tyr)
c.3148G>T (p.Asp1050Tyr)
c.2548G>T (p.Asp850Tyr)
c.3496G>T (p.Asp1166Tyr)
c.3493G>T (p.Asp1165Tyr)
c.3412G>T (p.Asp1138Tyr)
c.3343G>T (p.Asp1115Tyr)
c.3211G>T (p.Asp1071Tyr)
c.3079G>T (p.Asp1027Tyr)
 dbSNP gnomAD v2 gnomAD v4
20g.32435945A>CCA408562629ASXL1c.3233A>C (p.Asp1078Ala)
c.3050A>C (p.Asp1017Ala)
n.5586A>C
c.1869+1364A>C (n.1869+1364A>C)
c.3218A>C (p.Asp1073Ala)
c.3230A>C (p.Asp1077Ala)
c.3203A>C (p.Asp1068Ala)
c.3149A>C (p.Asp1050Ala)
c.2549A>C (p.Asp850Ala)
c.3497A>C (p.Asp1166Ala)
c.3494A>C (p.Asp1165Ala)
c.3413A>C (p.Asp1138Ala)
c.3344A>C (p.Asp1115Ala)
c.3212A>C (p.Asp1071Ala)
c.3080A>C (p.Asp1027Ala)
20g.32435945A>GCA408562630ASXL1c.3233A>G (p.Asp1078Gly)
c.3050A>G (p.Asp1017Gly)
n.5586A>G
c.1869+1364A>G (n.1869+1364A>G)
c.3218A>G (p.Asp1073Gly)
c.3230A>G (p.Asp1077Gly)
c.3203A>G (p.Asp1068Gly)
c.3149A>G (p.Asp1050Gly)
c.2549A>G (p.Asp850Gly)
c.3497A>G (p.Asp1166Gly)
c.3494A>G (p.Asp1165Gly)
c.3413A>G (p.Asp1138Gly)
c.3344A>G (p.Asp1115Gly)
c.3212A>G (p.Asp1071Gly)
c.3080A>G (p.Asp1027Gly)
20g.32435945A>TCA408562631ASXL1c.3233A>T (p.Asp1078Val)
c.3050A>T (p.Asp1017Val)
n.5586A>T
c.1869+1364A>T (n.1869+1364A>T)
c.3218A>T (p.Asp1073Val)
c.3230A>T (p.Asp1077Val)
c.3203A>T (p.Asp1068Val)
c.3149A>T (p.Asp1050Val)
c.2549A>T (p.Asp850Val)
c.3497A>T (p.Asp1166Val)
c.3494A>T (p.Asp1165Val)
c.3413A>T (p.Asp1138Val)
c.3344A>T (p.Asp1115Val)
c.3212A>T (p.Asp1071Val)
c.3080A>T (p.Asp1027Val)
20g.32435946T>ACA408562632ASXL1c.3234T>A (p.Asp1078Glu)
c.3051T>A (p.Asp1017Glu)
n.5587T>A
c.1869+1365T>A (n.1869+1365T>A)
c.3219T>A (p.Asp1073Glu)
c.3231T>A (p.Asp1077Glu)
c.3204T>A (p.Asp1068Glu)
c.3150T>A (p.Asp1050Glu)
c.2550T>A (p.Asp850Glu)
c.3498T>A (p.Asp1166Glu)
c.3495T>A (p.Asp1165Glu)
c.3414T>A (p.Asp1138Glu)
c.3345T>A (p.Asp1115Glu)
c.3213T>A (p.Asp1071Glu)
c.3081T>A (p.Asp1027Glu)
20g.32435946T>CCA510467141ASXL1c.3234T>C (p.Asp1078=)
c.3051T>C (p.Asp1017=)
n.5587T>C
c.1869+1365T>C (n.1869+1365T>C)
c.3219T>C (p.Asp1073=)
c.3231T>C (p.Asp1077=)
c.3204T>C (p.Asp1068=)
c.3150T>C (p.Asp1050=)
c.2550T>C (p.Asp850=)
c.3498T>C (p.Asp1166=)
c.3495T>C (p.Asp1165=)
c.3414T>C (p.Asp1138=)
c.3345T>C (p.Asp1115=)
c.3213T>C (p.Asp1071=)
c.3081T>C (p.Asp1027=)
 dbSNP gnomAD v3 gnomAD v4
20g.32435946T>GCA408562633ASXL1c.3234T>G (p.Asp1078Glu)
c.3051T>G (p.Asp1017Glu)
n.5587T>G
c.1869+1365T>G (n.1869+1365T>G)
c.3219T>G (p.Asp1073Glu)
c.3231T>G (p.Asp1077Glu)
c.3204T>G (p.Asp1068Glu)
c.3150T>G (p.Asp1050Glu)
c.2550T>G (p.Asp850Glu)
c.3498T>G (p.Asp1166Glu)
c.3495T>G (p.Asp1165Glu)
c.3414T>G (p.Asp1138Glu)
c.3345T>G (p.Asp1115Glu)
c.3213T>G (p.Asp1071Glu)
c.3081T>G (p.Asp1027Glu)
20g.32435946T=CA2360293471ASXL1c.3234T= (p.Asp1078=)
c.3051T= (p.Asp1017=)
n.5587T=
c.1869+1365T= (n.1869+1365T=)
c.3219T= (p.Asp1073=)
c.3231T= (p.Asp1077=)
c.3204T= (p.Asp1068=)
c.3150T= (p.Asp1050=)
c.2550T= (p.Asp850=)
c.3498T= (p.Asp1166=)
c.3495T= (p.Asp1165=)
c.3414T= (p.Asp1138=)
c.3345T= (p.Asp1115=)
c.3213T= (p.Asp1071=)
c.3081T= (p.Asp1027=)
20g.32435947T>ACA408562634ASXL1c.3235T>A (p.Ser1079Thr)
c.3052T>A (p.Ser1018Thr)
n.5588T>A
c.1869+1366T>A (n.1869+1366T>A)
c.3220T>A (p.Ser1074Thr)
c.3232T>A (p.Ser1078Thr)
c.3205T>A (p.Ser1069Thr)
c.3151T>A (p.Ser1051Thr)
c.2551T>A (p.Ser851Thr)
c.3499T>A (p.Ser1167Thr)
c.3496T>A (p.Ser1166Thr)
c.3415T>A (p.Ser1139Thr)
c.3346T>A (p.Ser1116Thr)
c.3214T>A (p.Ser1072Thr)
c.3082T>A (p.Ser1028Thr)
20g.32435947T>CCA9808783ASXL1c.3235T>C (p.Ser1079Pro)
c.3052T>C (p.Ser1018Pro)
n.5588T>C
c.1869+1366T>C (n.1869+1366T>C)
c.3220T>C (p.Ser1074Pro)
c.3232T>C (p.Ser1078Pro)
c.3205T>C (p.Ser1069Pro)
c.3151T>C (p.Ser1051Pro)
c.2551T>C (p.Ser851Pro)
c.3499T>C (p.Ser1167Pro)
c.3496T>C (p.Ser1166Pro)
c.3415T>C (p.Ser1139Pro)
c.3346T>C (p.Ser1116Pro)
c.3214T>C (p.Ser1072Pro)
c.3082T>C (p.Ser1028Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435947T>GCA408562635ASXL1c.3235T>G (p.Ser1079Ala)
c.3052T>G (p.Ser1018Ala)
n.5588T>G
c.1869+1366T>G (n.1869+1366T>G)
c.3220T>G (p.Ser1074Ala)
c.3232T>G (p.Ser1078Ala)
c.3205T>G (p.Ser1069Ala)
c.3151T>G (p.Ser1051Ala)
c.2551T>G (p.Ser851Ala)
c.3499T>G (p.Ser1167Ala)
c.3496T>G (p.Ser1166Ala)
c.3415T>G (p.Ser1139Ala)
c.3346T>G (p.Ser1116Ala)
c.3214T>G (p.Ser1072Ala)
c.3082T>G (p.Ser1028Ala)
20g.32435947T=CA2360293472ASXL1c.3235T= (p.Ser1079=)
c.3052T= (p.Ser1018=)
n.5588T=
c.1869+1366T= (n.1869+1366T=)
c.3220T= (p.Ser1074=)
c.3232T= (p.Ser1078=)
c.3205T= (p.Ser1069=)
c.3151T= (p.Ser1051=)
c.2551T= (p.Ser851=)
c.3499T= (p.Ser1167=)
c.3496T= (p.Ser1166=)
c.3415T= (p.Ser1139=)
c.3346T= (p.Ser1116=)
c.3214T= (p.Ser1072=)
c.3082T= (p.Ser1028=)
20g.32435948C>ACA408562638ASXL1c.3236C>A (p.Ser1079Tyr)
c.3053C>A (p.Ser1018Tyr)
n.5589C>A
c.1869+1367C>A (n.1869+1367C>A)
c.3221C>A (p.Ser1074Tyr)
c.3233C>A (p.Ser1078Tyr)
c.3206C>A (p.Ser1069Tyr)
c.3152C>A (p.Ser1051Tyr)
c.2552C>A (p.Ser851Tyr)
c.3500C>A (p.Ser1167Tyr)
c.3497C>A (p.Ser1166Tyr)
c.3416C>A (p.Ser1139Tyr)
c.3347C>A (p.Ser1116Tyr)
c.3215C>A (p.Ser1072Tyr)
c.3083C>A (p.Ser1028Tyr)
 dbSNP
20g.32435948C>GCA408562636ASXL1c.3236C>G (p.Ser1079Cys)
c.3053C>G (p.Ser1018Cys)
n.5589C>G
c.1869+1367C>G (n.1869+1367C>G)
c.3221C>G (p.Ser1074Cys)
c.3233C>G (p.Ser1078Cys)
c.3206C>G (p.Ser1069Cys)
c.3152C>G (p.Ser1051Cys)
c.2552C>G (p.Ser851Cys)
c.3500C>G (p.Ser1167Cys)
c.3497C>G (p.Ser1166Cys)
c.3416C>G (p.Ser1139Cys)
c.3347C>G (p.Ser1116Cys)
c.3215C>G (p.Ser1072Cys)
c.3083C>G (p.Ser1028Cys)
20g.32435948C>TCA408562637ASXL1c.3236C>T (p.Ser1079Phe)
c.3053C>T (p.Ser1018Phe)
n.5589C>T
c.1869+1367C>T (n.1869+1367C>T)
c.3221C>T (p.Ser1074Phe)
c.3233C>T (p.Ser1078Phe)
c.3206C>T (p.Ser1069Phe)
c.3152C>T (p.Ser1051Phe)
c.2552C>T (p.Ser851Phe)
c.3500C>T (p.Ser1167Phe)
c.3497C>T (p.Ser1166Phe)
c.3416C>T (p.Ser1139Phe)
c.3347C>T (p.Ser1116Phe)
c.3215C>T (p.Ser1072Phe)
c.3083C>T (p.Ser1028Phe)
20g.32435950delCA2573054864ASXL1c.3238del (p.Leu1080TyrfsTer29)
c.3055del (p.Leu1019TyrfsTer29)
n.5591del
c.1869+1369del (n.1869+1369del)
c.3223del (p.Leu1075TyrfsTer29)
c.3235del (p.Leu1079TyrfsTer29)
c.3208del (p.Leu1070TyrfsTer29)
c.3154del (p.Leu1052TyrfsTer29)
c.2554del (p.Leu852TyrfsTer29)
c.3502del (p.Leu1168TyrfsTer29)
c.3499del (p.Leu1167TyrfsTer29)
c.3418del (p.Leu1140TyrfsTer29)
c.3349del (p.Leu1117TyrfsTer29)
c.3217del (p.Leu1073TyrfsTer29)
c.3085del (p.Leu1029TyrfsTer29)
 ClinVar dbSNP
20g.32435949C>ACA510467143ASXL1c.3237C>A (p.Ser1079=)
c.3054C>A (p.Ser1018=)
n.5590C>A
c.1869+1368C>A (n.1869+1368C>A)
c.3222C>A (p.Ser1074=)
c.3234C>A (p.Ser1078=)
c.3207C>A (p.Ser1069=)
c.3153C>A (p.Ser1051=)
c.2553C>A (p.Ser851=)
c.3501C>A (p.Ser1167=)
c.3498C>A (p.Ser1166=)
c.3417C>A (p.Ser1139=)
c.3348C>A (p.Ser1116=)
c.3216C>A (p.Ser1072=)
c.3084C>A (p.Ser1028=)
20g.32435949C>GCA510467144ASXL1c.3237C>G (p.Ser1079=)
c.3054C>G (p.Ser1018=)
n.5590C>G
c.1869+1368C>G (n.1869+1368C>G)
c.3222C>G (p.Ser1074=)
c.3234C>G (p.Ser1078=)
c.3207C>G (p.Ser1069=)
c.3153C>G (p.Ser1051=)
c.2553C>G (p.Ser851=)
c.3501C>G (p.Ser1167=)
c.3498C>G (p.Ser1166=)
c.3417C>G (p.Ser1139=)
c.3348C>G (p.Ser1116=)
c.3216C>G (p.Ser1072=)
c.3084C>G (p.Ser1028=)
 COSMIC COSMIC
20g.32435949C>TCA510467145ASXL1c.3237C>T (p.Ser1079=)
c.3054C>T (p.Ser1018=)
n.5590C>T
c.1869+1368C>T (n.1869+1368C>T)
c.3222C>T (p.Ser1074=)
c.3234C>T (p.Ser1078=)
c.3207C>T (p.Ser1069=)
c.3153C>T (p.Ser1051=)
c.2553C>T (p.Ser851=)
c.3501C>T (p.Ser1167=)
c.3498C>T (p.Ser1166=)
c.3417C>T (p.Ser1139=)
c.3348C>T (p.Ser1116=)
c.3216C>T (p.Ser1072=)
c.3084C>T (p.Ser1028=)
20g.32435950C>ACA408562639ASXL1c.3238C>A (p.Leu1080Ile)
c.3055C>A (p.Leu1019Ile)
n.5591C>A
c.1869+1369C>A (n.1869+1369C>A)
c.3223C>A (p.Leu1075Ile)
c.3235C>A (p.Leu1079Ile)
c.3208C>A (p.Leu1070Ile)
c.3154C>A (p.Leu1052Ile)
c.2554C>A (p.Leu852Ile)
c.3502C>A (p.Leu1168Ile)
c.3499C>A (p.Leu1167Ile)
c.3418C>A (p.Leu1140Ile)
c.3349C>A (p.Leu1117Ile)
c.3217C>A (p.Leu1073Ile)
c.3085C>A (p.Leu1029Ile)
 dbSNP
20g.32435950C=CA2360293473ASXL1c.3238C= (p.Leu1080=)
c.3055C= (p.Leu1019=)
n.5591C=
c.1869+1369C= (n.1869+1369C=)
c.3223C= (p.Leu1075=)
c.3235C= (p.Leu1079=)
c.3208C= (p.Leu1070=)
c.3154C= (p.Leu1052=)
c.2554C= (p.Leu852=)
c.3502C= (p.Leu1168=)
c.3499C= (p.Leu1167=)
c.3418C= (p.Leu1140=)
c.3349C= (p.Leu1117=)
c.3217C= (p.Leu1073=)
c.3085C= (p.Leu1029=)
20g.32435950C>GCA408562640ASXL1c.3238C>G (p.Leu1080Val)
c.3055C>G (p.Leu1019Val)
n.5591C>G
c.1869+1369C>G (n.1869+1369C>G)
c.3223C>G (p.Leu1075Val)
c.3235C>G (p.Leu1079Val)
c.3208C>G (p.Leu1070Val)
c.3154C>G (p.Leu1052Val)
c.2554C>G (p.Leu852Val)
c.3502C>G (p.Leu1168Val)
c.3499C>G (p.Leu1167Val)
c.3418C>G (p.Leu1140Val)
c.3349C>G (p.Leu1117Val)
c.3217C>G (p.Leu1073Val)
c.3085C>G (p.Leu1029Val)
20g.32435950C>TCA510467146ASXL1c.3238C>T (p.Leu1080=)
c.3055C>T (p.Leu1019=)
n.5591C>T
c.1869+1369C>T (n.1869+1369C>T)
c.3223C>T (p.Leu1075=)
c.3235C>T (p.Leu1079=)
c.3208C>T (p.Leu1070=)
c.3154C>T (p.Leu1052=)
c.2554C>T (p.Leu852=)
c.3502C>T (p.Leu1168=)
c.3499C>T (p.Leu1167=)
c.3418C>T (p.Leu1140=)
c.3349C>T (p.Leu1117=)
c.3217C>T (p.Leu1073=)
c.3085C>T (p.Leu1029=)
 ClinVar dbSNP gnomAD v4
20g.32435951T>ACA408562641ASXL1c.3239T>A (p.Leu1080Gln)
c.3056T>A (p.Leu1019Gln)
n.5592T>A
c.1869+1370T>A (n.1869+1370T>A)
c.3224T>A (p.Leu1075Gln)
c.3236T>A (p.Leu1079Gln)
c.3209T>A (p.Leu1070Gln)
c.3155T>A (p.Leu1052Gln)
c.2555T>A (p.Leu852Gln)
c.3503T>A (p.Leu1168Gln)
c.3500T>A (p.Leu1167Gln)
c.3419T>A (p.Leu1140Gln)
c.3350T>A (p.Leu1117Gln)
c.3218T>A (p.Leu1073Gln)
c.3086T>A (p.Leu1029Gln)
20g.32435951T>CCA408562642ASXL1c.3239T>C (p.Leu1080Pro)
c.3056T>C (p.Leu1019Pro)
n.5592T>C
c.1869+1370T>C (n.1869+1370T>C)
c.3224T>C (p.Leu1075Pro)
c.3236T>C (p.Leu1079Pro)
c.3209T>C (p.Leu1070Pro)
c.3155T>C (p.Leu1052Pro)
c.2555T>C (p.Leu852Pro)
c.3503T>C (p.Leu1168Pro)
c.3500T>C (p.Leu1167Pro)
c.3419T>C (p.Leu1140Pro)
c.3350T>C (p.Leu1117Pro)
c.3218T>C (p.Leu1073Pro)
c.3086T>C (p.Leu1029Pro)
20g.32435951T>GCA408562643ASXL1c.3239T>G (p.Leu1080Arg)
c.3056T>G (p.Leu1019Arg)
n.5592T>G
c.1869+1370T>G (n.1869+1370T>G)
c.3224T>G (p.Leu1075Arg)
c.3236T>G (p.Leu1079Arg)
c.3209T>G (p.Leu1070Arg)
c.3155T>G (p.Leu1052Arg)
c.2555T>G (p.Leu852Arg)
c.3503T>G (p.Leu1168Arg)
c.3500T>G (p.Leu1167Arg)
c.3419T>G (p.Leu1140Arg)
c.3350T>G (p.Leu1117Arg)
c.3218T>G (p.Leu1073Arg)
c.3086T>G (p.Leu1029Arg)
20g.32435952A>CCA510467148ASXL1c.3240A>C (p.Leu1080=)
c.3057A>C (p.Leu1019=)
n.5593A>C
c.1869+1371A>C (n.1869+1371A>C)
c.3225A>C (p.Leu1075=)
c.3237A>C (p.Leu1079=)
c.3210A>C (p.Leu1070=)
c.3156A>C (p.Leu1052=)
c.2556A>C (p.Leu852=)
c.3504A>C (p.Leu1168=)
c.3501A>C (p.Leu1167=)
c.3420A>C (p.Leu1140=)
c.3351A>C (p.Leu1117=)
c.3219A>C (p.Leu1073=)
c.3087A>C (p.Leu1029=)
 gnomAD v4
20g.32435952A>GCA510467149ASXL1c.3240A>G (p.Leu1080=)
c.3057A>G (p.Leu1019=)
n.5593A>G
c.1869+1371A>G (n.1869+1371A>G)
c.3225A>G (p.Leu1075=)
c.3237A>G (p.Leu1079=)
c.3210A>G (p.Leu1070=)
c.3156A>G (p.Leu1052=)
c.2556A>G (p.Leu852=)
c.3504A>G (p.Leu1168=)
c.3501A>G (p.Leu1167=)
c.3420A>G (p.Leu1140=)
c.3351A>G (p.Leu1117=)
c.3219A>G (p.Leu1073=)
c.3087A>G (p.Leu1029=)
 gnomAD v4
20g.32435952A>TCA510467147ASXL1c.3240A>T (p.Leu1080=)
c.3057A>T (p.Leu1019=)
n.5593A>T
c.1869+1371A>T (n.1869+1371A>T)
c.3225A>T (p.Leu1075=)
c.3237A>T (p.Leu1079=)
c.3210A>T (p.Leu1070=)
c.3156A>T (p.Leu1052=)
c.2556A>T (p.Leu852=)
c.3504A>T (p.Leu1168=)
c.3501A>T (p.Leu1167=)
c.3420A>T (p.Leu1140=)
c.3351A>T (p.Leu1117=)
c.3219A>T (p.Leu1073=)
c.3087A>T (p.Leu1029=)
20g.32435952_32435955delinsACTGCA2360293474ASXL1c.3240_3243delinsACTG (p.Leu1080=)
c.3057_3060delinsACTG (p.Leu1019=)
n.5593_5596delinsACTG
c.1869+1371_1869+1374delinsACTG (n.1869+1371_1869+1374delinsACTG)
c.3225_3228delinsACTG (p.Leu1075=)
c.3237_3240delinsACTG (p.Leu1079=)
c.3210_3213delinsACTG (p.Leu1070=)
c.3156_3159delinsACTG (p.Leu1052=)
c.2556_2559delinsACTG (p.Leu852=)
c.3504_3507delinsACTG (p.Leu1168=)
c.3501_3504delinsACTG (p.Leu1167=)
c.3420_3423delinsACTG (p.Leu1140=)
c.3351_3354delinsACTG (p.Leu1117=)
c.3219_3222delinsACTG (p.Leu1073=)
c.3087_3090delinsACTG (p.Leu1029=)
20g.32435953C>ACA408562644ASXL1c.3241C>A (p.Leu1081Met)
c.3058C>A (p.Leu1020Met)
n.5594C>A
c.1869+1372C>A (n.1869+1372C>A)
c.3226C>A (p.Leu1076Met)
c.3238C>A (p.Leu1080Met)
c.3211C>A (p.Leu1071Met)
c.3157C>A (p.Leu1053Met)
c.2557C>A (p.Leu853Met)
c.3505C>A (p.Leu1169Met)
c.3502C>A (p.Leu1168Met)
c.3421C>A (p.Leu1141Met)
c.3352C>A (p.Leu1118Met)
c.3220C>A (p.Leu1074Met)
c.3088C>A (p.Leu1030Met)
20g.32435953C>GCA408562645ASXL1c.3241C>G (p.Leu1081Val)
c.3058C>G (p.Leu1020Val)
n.5594C>G
c.1869+1372C>G (n.1869+1372C>G)
c.3226C>G (p.Leu1076Val)
c.3238C>G (p.Leu1080Val)
c.3211C>G (p.Leu1071Val)
c.3157C>G (p.Leu1053Val)
c.2557C>G (p.Leu853Val)
c.3505C>G (p.Leu1169Val)
c.3502C>G (p.Leu1168Val)
c.3421C>G (p.Leu1141Val)
c.3352C>G (p.Leu1118Val)
c.3220C>G (p.Leu1074Val)
c.3088C>G (p.Leu1030Val)
20g.32435953C>TCA510467150ASXL1c.3241C>T (p.Leu1081=)
c.3058C>T (p.Leu1020=)
n.5594C>T
c.1869+1372C>T (n.1869+1372C>T)
c.3226C>T (p.Leu1076=)
c.3238C>T (p.Leu1080=)
c.3211C>T (p.Leu1071=)
c.3157C>T (p.Leu1053=)
c.2557C>T (p.Leu853=)
c.3505C>T (p.Leu1169=)
c.3502C>T (p.Leu1168=)
c.3421C>T (p.Leu1141=)
c.3352C>T (p.Leu1118=)
c.3220C>T (p.Leu1074=)
c.3088C>T (p.Leu1030=)
 dbSNP gnomAD v4
20g.32435956_32435958delCA9808784ASXL1c.3244_3246del (p.Leu1082del)
c.3061_3063del (p.Leu1021del)
n.5597_5599del
c.1869+1375_1869+1377del (n.1869+1375_1869+1377del)
c.3229_3231del (p.Leu1077del)
c.3241_3243del (p.Leu1081del)
c.3214_3216del (p.Leu1072del)
c.3160_3162del (p.Leu1054del)
c.2560_2562del (p.Leu854del)
c.3508_3510del (p.Leu1170del)
c.3505_3507del (p.Leu1169del)
c.3424_3426del (p.Leu1142del)
c.3355_3357del (p.Leu1119del)
c.3223_3225del (p.Leu1075del)
c.3091_3093del (p.Leu1031del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435954T>ACA408562646ASXL1c.3242T>A (p.Leu1081Gln)
c.3059T>A (p.Leu1020Gln)
n.5595T>A
c.1869+1373T>A (n.1869+1373T>A)
c.3227T>A (p.Leu1076Gln)
c.3239T>A (p.Leu1080Gln)
c.3212T>A (p.Leu1071Gln)
c.3158T>A (p.Leu1053Gln)
c.2558T>A (p.Leu853Gln)
c.3506T>A (p.Leu1169Gln)
c.3503T>A (p.Leu1168Gln)
c.3422T>A (p.Leu1141Gln)
c.3353T>A (p.Leu1118Gln)
c.3221T>A (p.Leu1074Gln)
c.3089T>A (p.Leu1030Gln)
20g.32435954T>CCA408562647ASXL1c.3242T>C (p.Leu1081Pro)
c.3059T>C (p.Leu1020Pro)
n.5595T>C
c.1869+1373T>C (n.1869+1373T>C)
c.3227T>C (p.Leu1076Pro)
c.3239T>C (p.Leu1080Pro)
c.3212T>C (p.Leu1071Pro)
c.3158T>C (p.Leu1053Pro)
c.2558T>C (p.Leu853Pro)
c.3506T>C (p.Leu1169Pro)
c.3503T>C (p.Leu1168Pro)
c.3422T>C (p.Leu1141Pro)
c.3353T>C (p.Leu1118Pro)
c.3221T>C (p.Leu1074Pro)
c.3089T>C (p.Leu1030Pro)
 gnomAD v4
20g.32435954T>GCA408562648ASXL1c.3242T>G (p.Leu1081Arg)
c.3059T>G (p.Leu1020Arg)
n.5595T>G
c.1869+1373T>G (n.1869+1373T>G)
c.3227T>G (p.Leu1076Arg)
c.3239T>G (p.Leu1080Arg)
c.3212T>G (p.Leu1071Arg)
c.3158T>G (p.Leu1053Arg)
c.2558T>G (p.Leu853Arg)
c.3506T>G (p.Leu1169Arg)
c.3503T>G (p.Leu1168Arg)
c.3422T>G (p.Leu1141Arg)
c.3353T>G (p.Leu1118Arg)
c.3221T>G (p.Leu1074Arg)
c.3089T>G (p.Leu1030Arg)
20g.32435955G>ACA510467154ASXL1c.3243G>A (p.Leu1081=)
c.3060G>A (p.Leu1020=)
n.5596G>A
c.1869+1374G>A (n.1869+1374G>A)
c.3228G>A (p.Leu1076=)
c.3240G>A (p.Leu1080=)
c.3213G>A (p.Leu1071=)
c.3159G>A (p.Leu1053=)
c.2559G>A (p.Leu853=)
c.3507G>A (p.Leu1169=)
c.3504G>A (p.Leu1168=)
c.3423G>A (p.Leu1141=)
c.3354G>A (p.Leu1118=)
c.3222G>A (p.Leu1074=)
c.3090G>A (p.Leu1030=)
 dbSNP
20g.32435955G>CCA313926341ASXL1c.3243G>C (p.Leu1081=)
c.3060G>C (p.Leu1020=)
n.5596G>C
c.1869+1374G>C (n.1869+1374G>C)
c.3228G>C (p.Leu1076=)
c.3240G>C (p.Leu1080=)
c.3213G>C (p.Leu1071=)
c.3159G>C (p.Leu1053=)
c.2559G>C (p.Leu853=)
c.3507G>C (p.Leu1169=)
c.3504G>C (p.Leu1168=)
c.3423G>C (p.Leu1141=)
c.3354G>C (p.Leu1118=)
c.3222G>C (p.Leu1074=)
c.3090G>C (p.Leu1030=)
 dbSNP gnomAD v2 gnomAD v4
20g.32435955G=CA2360293475ASXL1c.3243G= (p.Leu1081=)
c.3060G= (p.Leu1020=)
n.5596G=
c.1869+1374G= (n.1869+1374G=)
c.3228G= (p.Leu1076=)
c.3240G= (p.Leu1080=)
c.3213G= (p.Leu1071=)
c.3159G= (p.Leu1053=)
c.2559G= (p.Leu853=)
c.3507G= (p.Leu1169=)
c.3504G= (p.Leu1168=)
c.3423G= (p.Leu1141=)
c.3354G= (p.Leu1118=)
c.3222G= (p.Leu1074=)
c.3090G= (p.Leu1030=)
20g.32435955G>TCA510467155ASXL1c.3243G>T (p.Leu1081=)
c.3060G>T (p.Leu1020=)
n.5596G>T
c.1869+1374G>T (n.1869+1374G>T)
c.3228G>T (p.Leu1076=)
c.3240G>T (p.Leu1080=)
c.3213G>T (p.Leu1071=)
c.3159G>T (p.Leu1053=)
c.2559G>T (p.Leu853=)
c.3507G>T (p.Leu1169=)
c.3504G>T (p.Leu1168=)
c.3423G>T (p.Leu1141=)
c.3354G>T (p.Leu1118=)
c.3222G>T (p.Leu1074=)
c.3090G>T (p.Leu1030=)
20g.32435956C>ACA408562649ASXL1c.3244C>A (p.Leu1082Met)
c.3061C>A (p.Leu1021Met)
n.5597C>A
c.1869+1375C>A (n.1869+1375C>A)
c.3229C>A (p.Leu1077Met)
c.3241C>A (p.Leu1081Met)
c.3214C>A (p.Leu1072Met)
c.3160C>A (p.Leu1054Met)
c.2560C>A (p.Leu854Met)
c.3508C>A (p.Leu1170Met)
c.3505C>A (p.Leu1169Met)
c.3424C>A (p.Leu1142Met)
c.3355C>A (p.Leu1119Met)
c.3223C>A (p.Leu1075Met)
c.3091C>A (p.Leu1031Met)
 dbSNP
20g.32435956C=CA2360293476ASXL1c.3244C= (p.Leu1082=)
c.3061C= (p.Leu1021=)
n.5597C=
c.1869+1375C= (n.1869+1375C=)
c.3229C= (p.Leu1077=)
c.3241C= (p.Leu1081=)
c.3214C= (p.Leu1072=)
c.3160C= (p.Leu1054=)
c.2560C= (p.Leu854=)
c.3508C= (p.Leu1170=)
c.3505C= (p.Leu1169=)
c.3424C= (p.Leu1142=)
c.3355C= (p.Leu1119=)
c.3223C= (p.Leu1075=)
c.3091C= (p.Leu1031=)
20g.32435956C>GCA408562650ASXL1c.3244C>G (p.Leu1082Val)
c.3061C>G (p.Leu1021Val)
n.5597C>G
c.1869+1375C>G (n.1869+1375C>G)
c.3229C>G (p.Leu1077Val)
c.3241C>G (p.Leu1081Val)
c.3214C>G (p.Leu1072Val)
c.3160C>G (p.Leu1054Val)
c.2560C>G (p.Leu854Val)
c.3508C>G (p.Leu1170Val)
c.3505C>G (p.Leu1169Val)
c.3424C>G (p.Leu1142Val)
c.3355C>G (p.Leu1119Val)
c.3223C>G (p.Leu1075Val)
c.3091C>G (p.Leu1031Val)
20g.32435956C>TCA510467156ASXL1c.3244C>T (p.Leu1082=)
c.3061C>T (p.Leu1021=)
n.5597C>T
c.1869+1375C>T (n.1869+1375C>T)
c.3229C>T (p.Leu1077=)
c.3241C>T (p.Leu1081=)
c.3214C>T (p.Leu1072=)
c.3160C>T (p.Leu1054=)
c.2560C>T (p.Leu854=)
c.3508C>T (p.Leu1170=)
c.3505C>T (p.Leu1169=)
c.3424C>T (p.Leu1142=)
c.3355C>T (p.Leu1119=)
c.3223C>T (p.Leu1075=)
c.3091C>T (p.Leu1031=)
 dbSNP gnomAD v2 gnomAD v4
20g.32435957T>ACA408562653ASXL1c.3245T>A (p.Leu1082Gln)
c.3062T>A (p.Leu1021Gln)
n.5598T>A
c.1869+1376T>A (n.1869+1376T>A)
c.3230T>A (p.Leu1077Gln)
c.3242T>A (p.Leu1081Gln)
c.3215T>A (p.Leu1072Gln)
c.3161T>A (p.Leu1054Gln)
c.2561T>A (p.Leu854Gln)
c.3509T>A (p.Leu1170Gln)
c.3506T>A (p.Leu1169Gln)
c.3425T>A (p.Leu1142Gln)
c.3356T>A (p.Leu1119Gln)
c.3224T>A (p.Leu1075Gln)
c.3092T>A (p.Leu1031Gln)
20g.32435957T>CCA408562652ASXL1c.3245T>C (p.Leu1082Pro)
c.3062T>C (p.Leu1021Pro)
n.5598T>C
c.1869+1376T>C (n.1869+1376T>C)
c.3230T>C (p.Leu1077Pro)
c.3242T>C (p.Leu1081Pro)
c.3215T>C (p.Leu1072Pro)
c.3161T>C (p.Leu1054Pro)
c.2561T>C (p.Leu854Pro)
c.3509T>C (p.Leu1170Pro)
c.3506T>C (p.Leu1169Pro)
c.3425T>C (p.Leu1142Pro)
c.3356T>C (p.Leu1119Pro)
c.3224T>C (p.Leu1075Pro)
c.3092T>C (p.Leu1031Pro)
20g.32435957T>GCA408562651ASXL1c.3245T>G (p.Leu1082Arg)
c.3062T>G (p.Leu1021Arg)
n.5598T>G
c.1869+1376T>G (n.1869+1376T>G)
c.3230T>G (p.Leu1077Arg)
c.3242T>G (p.Leu1081Arg)
c.3215T>G (p.Leu1072Arg)
c.3161T>G (p.Leu1054Arg)
c.2561T>G (p.Leu854Arg)
c.3509T>G (p.Leu1170Arg)
c.3506T>G (p.Leu1169Arg)
c.3425T>G (p.Leu1142Arg)
c.3356T>G (p.Leu1119Arg)
c.3224T>G (p.Leu1075Arg)
c.3092T>G (p.Leu1031Arg)
20g.32435958G>ACA510467160ASXL1c.3246G>A (p.Leu1082=)
c.3063G>A (p.Leu1021=)
n.5599G>A
c.1869+1377G>A (n.1869+1377G>A)
c.3231G>A (p.Leu1077=)
c.3243G>A (p.Leu1081=)
c.3216G>A (p.Leu1072=)
c.3162G>A (p.Leu1054=)
c.2562G>A (p.Leu854=)
c.3510G>A (p.Leu1170=)
c.3507G>A (p.Leu1169=)
c.3426G>A (p.Leu1142=)
c.3357G>A (p.Leu1119=)
c.3225G>A (p.Leu1075=)
c.3093G>A (p.Leu1031=)
20g.32435958G>CCA510467161ASXL1c.3246G>C (p.Leu1082=)
c.3063G>C (p.Leu1021=)
n.5599G>C
c.1869+1377G>C (n.1869+1377G>C)
c.3231G>C (p.Leu1077=)
c.3243G>C (p.Leu1081=)
c.3216G>C (p.Leu1072=)
c.3162G>C (p.Leu1054=)
c.2562G>C (p.Leu854=)
c.3510G>C (p.Leu1170=)
c.3507G>C (p.Leu1169=)
c.3426G>C (p.Leu1142=)
c.3357G>C (p.Leu1119=)
c.3225G>C (p.Leu1075=)
c.3093G>C (p.Leu1031=)
20g.32435958G>TCA510467162ASXL1c.3246G>T (p.Leu1082=)
c.3063G>T (p.Leu1021=)
n.5599G>T
c.1869+1377G>T (n.1869+1377G>T)
c.3231G>T (p.Leu1077=)
c.3243G>T (p.Leu1081=)
c.3216G>T (p.Leu1072=)
c.3162G>T (p.Leu1054=)
c.2562G>T (p.Leu854=)
c.3510G>T (p.Leu1170=)
c.3507G>T (p.Leu1169=)
c.3426G>T (p.Leu1142=)
c.3357G>T (p.Leu1119=)
c.3225G>T (p.Leu1075=)
c.3093G>T (p.Leu1031=)
20g.32435959G>ACA408562654ASXL1c.3247G>A (p.Ala1083Thr)
c.3064G>A (p.Ala1022Thr)
n.5600G>A
c.1869+1378G>A (n.1869+1378G>A)
c.3232G>A (p.Ala1078Thr)
c.3244G>A (p.Ala1082Thr)
c.3217G>A (p.Ala1073Thr)
c.3163G>A (p.Ala1055Thr)
c.2563G>A (p.Ala855Thr)
c.3511G>A (p.Ala1171Thr)
c.3508G>A (p.Ala1170Thr)
c.3427G>A (p.Ala1143Thr)
c.3358G>A (p.Ala1120Thr)
c.3226G>A (p.Ala1076Thr)
c.3094G>A (p.Ala1032Thr)
20g.32435959G>CCA408562656ASXL1c.3247G>C (p.Ala1083Pro)
c.3064G>C (p.Ala1022Pro)
n.5600G>C
c.1869+1378G>C (n.1869+1378G>C)
c.3232G>C (p.Ala1078Pro)
c.3244G>C (p.Ala1082Pro)
c.3217G>C (p.Ala1073Pro)
c.3163G>C (p.Ala1055Pro)
c.2563G>C (p.Ala855Pro)
c.3511G>C (p.Ala1171Pro)
c.3508G>C (p.Ala1170Pro)
c.3427G>C (p.Ala1143Pro)
c.3358G>C (p.Ala1120Pro)
c.3226G>C (p.Ala1076Pro)
c.3094G>C (p.Ala1032Pro)
 dbSNP
20g.32435959G>TCA408562655ASXL1c.3247G>T (p.Ala1083Ser)
c.3064G>T (p.Ala1022Ser)
n.5600G>T
c.1869+1378G>T (n.1869+1378G>T)
c.3232G>T (p.Ala1078Ser)
c.3244G>T (p.Ala1082Ser)
c.3217G>T (p.Ala1073Ser)
c.3163G>T (p.Ala1055Ser)
c.2563G>T (p.Ala855Ser)
c.3511G>T (p.Ala1171Ser)
c.3508G>T (p.Ala1170Ser)
c.3427G>T (p.Ala1143Ser)
c.3358G>T (p.Ala1120Ser)
c.3226G>T (p.Ala1076Ser)
c.3094G>T (p.Ala1032Ser)
20g.32435960C>ACA408562657ASXL1c.3248C>A (p.Ala1083Asp)
c.3065C>A (p.Ala1022Asp)
n.5601C>A
c.1869+1379C>A (n.1869+1379C>A)
c.3233C>A (p.Ala1078Asp)
c.3245C>A (p.Ala1082Asp)
c.3218C>A (p.Ala1073Asp)
c.3164C>A (p.Ala1055Asp)
c.2564C>A (p.Ala855Asp)
c.3512C>A (p.Ala1171Asp)
c.3509C>A (p.Ala1170Asp)
c.3428C>A (p.Ala1143Asp)
c.3359C>A (p.Ala1120Asp)
c.3227C>A (p.Ala1076Asp)
c.3095C>A (p.Ala1032Asp)
20g.32435960C>GCA408562658ASXL1c.3248C>G (p.Ala1083Gly)
c.3065C>G (p.Ala1022Gly)
n.5601C>G
c.1869+1379C>G (n.1869+1379C>G)
c.3233C>G (p.Ala1078Gly)
c.3245C>G (p.Ala1082Gly)
c.3218C>G (p.Ala1073Gly)
c.3164C>G (p.Ala1055Gly)
c.2564C>G (p.Ala855Gly)
c.3512C>G (p.Ala1171Gly)
c.3509C>G (p.Ala1170Gly)
c.3428C>G (p.Ala1143Gly)
c.3359C>G (p.Ala1120Gly)
c.3227C>G (p.Ala1076Gly)
c.3095C>G (p.Ala1032Gly)
20g.32435960C>TCA408562659ASXL1c.3248C>T (p.Ala1083Val)
c.3065C>T (p.Ala1022Val)
n.5601C>T
c.1869+1379C>T (n.1869+1379C>T)
c.3233C>T (p.Ala1078Val)
c.3245C>T (p.Ala1082Val)
c.3218C>T (p.Ala1073Val)
c.3164C>T (p.Ala1055Val)
c.2564C>T (p.Ala855Val)
c.3512C>T (p.Ala1171Val)
c.3509C>T (p.Ala1170Val)
c.3428C>T (p.Ala1143Val)
c.3359C>T (p.Ala1120Val)
c.3227C>T (p.Ala1076Val)
c.3095C>T (p.Ala1032Val)
 dbSNP gnomAD v4
20g.32435961C>ACA510467163ASXL1c.3249C>A (p.Ala1083=)
c.3066C>A (p.Ala1022=)
n.5602C>A
c.1869+1380C>A (n.1869+1380C>A)
c.3234C>A (p.Ala1078=)
c.3246C>A (p.Ala1082=)
c.3219C>A (p.Ala1073=)
c.3165C>A (p.Ala1055=)
c.2565C>A (p.Ala855=)
c.3513C>A (p.Ala1171=)
c.3510C>A (p.Ala1170=)
c.3429C>A (p.Ala1143=)
c.3360C>A (p.Ala1120=)
c.3228C>A (p.Ala1076=)
c.3096C>A (p.Ala1032=)
20g.32435961C>GCA510467164ASXL1c.3249C>G (p.Ala1083=)
c.3066C>G (p.Ala1022=)
n.5602C>G
c.1869+1380C>G (n.1869+1380C>G)
c.3234C>G (p.Ala1078=)
c.3246C>G (p.Ala1082=)
c.3219C>G (p.Ala1073=)
c.3165C>G (p.Ala1055=)
c.2565C>G (p.Ala855=)
c.3513C>G (p.Ala1171=)
c.3510C>G (p.Ala1170=)
c.3429C>G (p.Ala1143=)
c.3360C>G (p.Ala1120=)
c.3228C>G (p.Ala1076=)
c.3096C>G (p.Ala1032=)
20g.32435961C>TCA510467166ASXL1c.3249C>T (p.Ala1083=)
c.3066C>T (p.Ala1022=)
n.5602C>T
c.1869+1380C>T (n.1869+1380C>T)
c.3234C>T (p.Ala1078=)
c.3246C>T (p.Ala1082=)
c.3219C>T (p.Ala1073=)
c.3165C>T (p.Ala1055=)
c.2565C>T (p.Ala855=)
c.3513C>T (p.Ala1171=)
c.3510C>T (p.Ala1170=)
c.3429C>T (p.Ala1143=)
c.3360C>T (p.Ala1120=)
c.3228C>T (p.Ala1076=)
c.3096C>T (p.Ala1032=)
20g.32435962A>CCA408562660ASXL1c.3250A>C (p.Ser1084Arg)
c.3067A>C (p.Ser1023Arg)
n.5603A>C
c.1869+1381A>C (n.1869+1381A>C)
c.3235A>C (p.Ser1079Arg)
c.3247A>C (p.Ser1083Arg)
c.3220A>C (p.Ser1074Arg)
c.3166A>C (p.Ser1056Arg)
c.2566A>C (p.Ser856Arg)
c.3514A>C (p.Ser1172Arg)
c.3511A>C (p.Ser1171Arg)
c.3430A>C (p.Ser1144Arg)
c.3361A>C (p.Ser1121Arg)
c.3229A>C (p.Ser1077Arg)
c.3097A>C (p.Ser1033Arg)
20g.32435962A>GCA408562661ASXL1c.3250A>G (p.Ser1084Gly)
c.3067A>G (p.Ser1023Gly)
n.5603A>G
c.1869+1381A>G (n.1869+1381A>G)
c.3235A>G (p.Ser1079Gly)
c.3247A>G (p.Ser1083Gly)
c.3220A>G (p.Ser1074Gly)
c.3166A>G (p.Ser1056Gly)
c.2566A>G (p.Ser856Gly)
c.3514A>G (p.Ser1172Gly)
c.3511A>G (p.Ser1171Gly)
c.3430A>G (p.Ser1144Gly)
c.3361A>G (p.Ser1121Gly)
c.3229A>G (p.Ser1077Gly)
c.3097A>G (p.Ser1033Gly)
20g.32435962A>TCA408562662ASXL1c.3250A>T (p.Ser1084Cys)
c.3067A>T (p.Ser1023Cys)
n.5603A>T
c.1869+1381A>T (n.1869+1381A>T)
c.3235A>T (p.Ser1079Cys)
c.3247A>T (p.Ser1083Cys)
c.3220A>T (p.Ser1074Cys)
c.3166A>T (p.Ser1056Cys)
c.2566A>T (p.Ser856Cys)
c.3514A>T (p.Ser1172Cys)
c.3511A>T (p.Ser1171Cys)
c.3430A>T (p.Ser1144Cys)
c.3361A>T (p.Ser1121Cys)
c.3229A>T (p.Ser1077Cys)
c.3097A>T (p.Ser1033Cys)
20g.32435963G>ACA408562663ASXL1c.3251G>A (p.Ser1084Asn)
c.3068G>A (p.Ser1023Asn)
n.5604G>A
c.1869+1382G>A (n.1869+1382G>A)
c.3236G>A (p.Ser1079Asn)
c.3248G>A (p.Ser1083Asn)
c.3221G>A (p.Ser1074Asn)
c.3167G>A (p.Ser1056Asn)
c.2567G>A (p.Ser856Asn)
c.3515G>A (p.Ser1172Asn)
c.3512G>A (p.Ser1171Asn)
c.3431G>A (p.Ser1144Asn)
c.3362G>A (p.Ser1121Asn)
c.3230G>A (p.Ser1077Asn)
c.3098G>A (p.Ser1033Asn)
 dbSNP gnomAD v4 COSMIC COSMIC
20g.32435963G>CCA408562664ASXL1c.3251G>C (p.Ser1084Thr)
c.3068G>C (p.Ser1023Thr)
n.5604G>C
c.1869+1382G>C (n.1869+1382G>C)
c.3236G>C (p.Ser1079Thr)
c.3248G>C (p.Ser1083Thr)
c.3221G>C (p.Ser1074Thr)
c.3167G>C (p.Ser1056Thr)
c.2567G>C (p.Ser856Thr)
c.3515G>C (p.Ser1172Thr)
c.3512G>C (p.Ser1171Thr)
c.3431G>C (p.Ser1144Thr)
c.3362G>C (p.Ser1121Thr)
c.3230G>C (p.Ser1077Thr)
c.3098G>C (p.Ser1033Thr)
20g.32435963G=CA2360293477ASXL1c.3251G= (p.Ser1084=)
c.3068G= (p.Ser1023=)
n.5604G=
c.1869+1382G= (n.1869+1382G=)
c.3236G= (p.Ser1079=)
c.3248G= (p.Ser1083=)
c.3221G= (p.Ser1074=)
c.3167G= (p.Ser1056=)
c.2567G= (p.Ser856=)
c.3515G= (p.Ser1172=)
c.3512G= (p.Ser1171=)
c.3431G= (p.Ser1144=)
c.3362G= (p.Ser1121=)
c.3230G= (p.Ser1077=)
c.3098G= (p.Ser1033=)
20g.32435963G>TCA408562665ASXL1c.3251G>T (p.Ser1084Ile)
c.3068G>T (p.Ser1023Ile)
n.5604G>T
c.1869+1382G>T (n.1869+1382G>T)
c.3236G>T (p.Ser1079Ile)
c.3248G>T (p.Ser1083Ile)
c.3221G>T (p.Ser1074Ile)
c.3167G>T (p.Ser1056Ile)
c.2567G>T (p.Ser856Ile)
c.3515G>T (p.Ser1172Ile)
c.3512G>T (p.Ser1171Ile)
c.3431G>T (p.Ser1144Ile)
c.3362G>T (p.Ser1121Ile)
c.3230G>T (p.Ser1077Ile)
c.3098G>T (p.Ser1033Ile)
20g.32435964T>ACA408562666ASXL1c.3252T>A (p.Ser1084Arg)
c.3069T>A (p.Ser1023Arg)
n.5605T>A
c.1869+1383T>A (n.1869+1383T>A)
c.3237T>A (p.Ser1079Arg)
c.3249T>A (p.Ser1083Arg)
c.3222T>A (p.Ser1074Arg)
c.3168T>A (p.Ser1056Arg)
c.2568T>A (p.Ser856Arg)
c.3516T>A (p.Ser1172Arg)
c.3513T>A (p.Ser1171Arg)
c.3432T>A (p.Ser1144Arg)
c.3363T>A (p.Ser1121Arg)
c.3231T>A (p.Ser1077Arg)
c.3099T>A (p.Ser1033Arg)
20g.32435964T>CCA510467170ASXL1c.3252T>C (p.Ser1084=)
c.3069T>C (p.Ser1023=)
n.5605T>C
c.1869+1383T>C (n.1869+1383T>C)
c.3237T>C (p.Ser1079=)
c.3249T>C (p.Ser1083=)
c.3222T>C (p.Ser1074=)
c.3168T>C (p.Ser1056=)
c.2568T>C (p.Ser856=)
c.3516T>C (p.Ser1172=)
c.3513T>C (p.Ser1171=)
c.3432T>C (p.Ser1144=)
c.3363T>C (p.Ser1121=)
c.3231T>C (p.Ser1077=)
c.3099T>C (p.Ser1033=)
20g.32435964T>GCA408562667ASXL1c.3252T>G (p.Ser1084Arg)
c.3069T>G (p.Ser1023Arg)
n.5605T>G
c.1869+1383T>G (n.1869+1383T>G)
c.3237T>G (p.Ser1079Arg)
c.3249T>G (p.Ser1083Arg)
c.3222T>G (p.Ser1074Arg)
c.3168T>G (p.Ser1056Arg)
c.2568T>G (p.Ser856Arg)
c.3516T>G (p.Ser1172Arg)
c.3513T>G (p.Ser1171Arg)
c.3432T>G (p.Ser1144Arg)
c.3363T>G (p.Ser1121Arg)
c.3231T>G (p.Ser1077Arg)
c.3099T>G (p.Ser1033Arg)
20g.32435965A>CCA408562670ASXL1c.3253A>C (p.Thr1085Pro)
c.3070A>C (p.Thr1024Pro)
n.5606A>C
c.1869+1384A>C (n.1869+1384A>C)
c.3238A>C (p.Thr1080Pro)
c.3250A>C (p.Thr1084Pro)
c.3223A>C (p.Thr1075Pro)
c.3169A>C (p.Thr1057Pro)
c.2569A>C (p.Thr857Pro)
c.3517A>C (p.Thr1173Pro)
c.3514A>C (p.Thr1172Pro)
c.3433A>C (p.Thr1145Pro)
c.3364A>C (p.Thr1122Pro)
c.3232A>C (p.Thr1078Pro)
c.3100A>C (p.Thr1034Pro)
20g.32435965A>GCA408562668ASXL1c.3253A>G (p.Thr1085Ala)
c.3070A>G (p.Thr1024Ala)
n.5606A>G
c.1869+1384A>G (n.1869+1384A>G)
c.3238A>G (p.Thr1080Ala)
c.3250A>G (p.Thr1084Ala)
c.3223A>G (p.Thr1075Ala)
c.3169A>G (p.Thr1057Ala)
c.2569A>G (p.Thr857Ala)
c.3517A>G (p.Thr1173Ala)
c.3514A>G (p.Thr1172Ala)
c.3433A>G (p.Thr1145Ala)
c.3364A>G (p.Thr1122Ala)
c.3232A>G (p.Thr1078Ala)
c.3100A>G (p.Thr1034Ala)
20g.32435965A>TCA408562669ASXL1c.3253A>T (p.Thr1085Ser)
c.3070A>T (p.Thr1024Ser)
n.5606A>T
c.1869+1384A>T (n.1869+1384A>T)
c.3238A>T (p.Thr1080Ser)
c.3250A>T (p.Thr1084Ser)
c.3223A>T (p.Thr1075Ser)
c.3169A>T (p.Thr1057Ser)
c.2569A>T (p.Thr857Ser)
c.3517A>T (p.Thr1173Ser)
c.3514A>T (p.Thr1172Ser)
c.3433A>T (p.Thr1145Ser)
c.3364A>T (p.Thr1122Ser)
c.3232A>T (p.Thr1078Ser)
c.3100A>T (p.Thr1034Ser)
20g.32435966C>ACA408562671ASXL1c.3254C>A (p.Thr1085Asn)
c.3071C>A (p.Thr1024Asn)
n.5607C>A
c.1869+1385C>A (n.1869+1385C>A)
c.3239C>A (p.Thr1080Asn)
c.3251C>A (p.Thr1084Asn)
c.3224C>A (p.Thr1075Asn)
c.3170C>A (p.Thr1057Asn)
c.2570C>A (p.Thr857Asn)
c.3518C>A (p.Thr1173Asn)
c.3515C>A (p.Thr1172Asn)
c.3434C>A (p.Thr1145Asn)
c.3365C>A (p.Thr1122Asn)
c.3233C>A (p.Thr1078Asn)
c.3101C>A (p.Thr1034Asn)
20g.32435966C>GCA408562672ASXL1c.3254C>G (p.Thr1085Ser)
c.3071C>G (p.Thr1024Ser)
n.5607C>G
c.1869+1385C>G (n.1869+1385C>G)
c.3239C>G (p.Thr1080Ser)
c.3251C>G (p.Thr1084Ser)
c.3224C>G (p.Thr1075Ser)
c.3170C>G (p.Thr1057Ser)
c.2570C>G (p.Thr857Ser)
c.3518C>G (p.Thr1173Ser)
c.3515C>G (p.Thr1172Ser)
c.3434C>G (p.Thr1145Ser)
c.3365C>G (p.Thr1122Ser)
c.3233C>G (p.Thr1078Ser)
c.3101C>G (p.Thr1034Ser)
20g.32435966C>TCA408562673ASXL1c.3254C>T (p.Thr1085Ile)
c.3071C>T (p.Thr1024Ile)
n.5607C>T
c.1869+1385C>T (n.1869+1385C>T)
c.3239C>T (p.Thr1080Ile)
c.3251C>T (p.Thr1084Ile)
c.3224C>T (p.Thr1075Ile)
c.3170C>T (p.Thr1057Ile)
c.2570C>T (p.Thr857Ile)
c.3518C>T (p.Thr1173Ile)
c.3515C>T (p.Thr1172Ile)
c.3434C>T (p.Thr1145Ile)
c.3365C>T (p.Thr1122Ile)
c.3233C>T (p.Thr1078Ile)
c.3101C>T (p.Thr1034Ile)
 dbSNP
20g.32435967T>ACA510467176ASXL1c.3255T>A (p.Thr1085=)
c.3072T>A (p.Thr1024=)
n.5608T>A
c.1869+1386T>A (n.1869+1386T>A)
c.3240T>A (p.Thr1080=)
c.3252T>A (p.Thr1084=)
c.3225T>A (p.Thr1075=)
c.3171T>A (p.Thr1057=)
c.2571T>A (p.Thr857=)
c.3519T>A (p.Thr1173=)
c.3516T>A (p.Thr1172=)
c.3435T>A (p.Thr1145=)
c.3366T>A (p.Thr1122=)
c.3234T>A (p.Thr1078=)
c.3102T>A (p.Thr1034=)
20g.32435967T>CCA510467177ASXL1c.3255T>C (p.Thr1085=)
c.3072T>C (p.Thr1024=)
n.5608T>C
c.1869+1386T>C (n.1869+1386T>C)
c.3240T>C (p.Thr1080=)
c.3252T>C (p.Thr1084=)
c.3225T>C (p.Thr1075=)
c.3171T>C (p.Thr1057=)
c.2571T>C (p.Thr857=)
c.3519T>C (p.Thr1173=)
c.3516T>C (p.Thr1172=)
c.3435T>C (p.Thr1145=)
c.3366T>C (p.Thr1122=)
c.3234T>C (p.Thr1078=)
c.3102T>C (p.Thr1034=)
20g.32435967T>GCA510467178ASXL1c.3255T>G (p.Thr1085=)
c.3072T>G (p.Thr1024=)
n.5608T>G
c.1869+1386T>G (n.1869+1386T>G)
c.3240T>G (p.Thr1080=)
c.3252T>G (p.Thr1084=)
c.3225T>G (p.Thr1075=)
c.3171T>G (p.Thr1057=)
c.2571T>G (p.Thr857=)
c.3519T>G (p.Thr1173=)
c.3516T>G (p.Thr1172=)
c.3435T>G (p.Thr1145=)
c.3366T>G (p.Thr1122=)
c.3234T>G (p.Thr1078=)
c.3102T>G (p.Thr1034=)
20g.32435968G>ACA408562674ASXL1c.3256G>A (p.Glu1086Lys)
c.3073G>A (p.Glu1025Lys)
n.5609G>A
c.1869+1387G>A (n.1869+1387G>A)
c.3241G>A (p.Glu1081Lys)
c.3253G>A (p.Glu1085Lys)
c.3226G>A (p.Glu1076Lys)
c.3172G>A (p.Glu1058Lys)
c.2572G>A (p.Glu858Lys)
c.3520G>A (p.Glu1174Lys)
c.3517G>A (p.Glu1173Lys)
c.3436G>A (p.Glu1146Lys)
c.3367G>A (p.Glu1123Lys)
c.3235G>A (p.Glu1079Lys)
c.3103G>A (p.Glu1035Lys)
20g.32435968G>CCA408562675ASXL1c.3256G>C (p.Glu1086Gln)
c.3073G>C (p.Glu1025Gln)
n.5609G>C
c.1869+1387G>C (n.1869+1387G>C)
c.3241G>C (p.Glu1081Gln)
c.3253G>C (p.Glu1085Gln)
c.3226G>C (p.Glu1076Gln)
c.3172G>C (p.Glu1058Gln)
c.2572G>C (p.Glu858Gln)
c.3520G>C (p.Glu1174Gln)
c.3517G>C (p.Glu1173Gln)
c.3436G>C (p.Glu1146Gln)
c.3367G>C (p.Glu1123Gln)
c.3235G>C (p.Glu1079Gln)
c.3103G>C (p.Glu1035Gln)
20g.32435968G>TCA408562676ASXL1c.3256G>T (p.Glu1086Ter)
c.3073G>T (p.Glu1025Ter)
n.5609G>T
c.1869+1387G>T (n.1869+1387G>T)
c.3241G>T (p.Glu1081Ter)
c.3253G>T (p.Glu1085Ter)
c.3226G>T (p.Glu1076Ter)
c.3172G>T (p.Glu1058Ter)
c.2572G>T (p.Glu858Ter)
c.3520G>T (p.Glu1174Ter)
c.3517G>T (p.Glu1173Ter)
c.3436G>T (p.Glu1146Ter)
c.3367G>T (p.Glu1123Ter)
c.3235G>T (p.Glu1079Ter)
c.3103G>T (p.Glu1035Ter)
20g.32435969A>CCA408562677ASXL1c.3257A>C (p.Glu1086Ala)
c.3074A>C (p.Glu1025Ala)
n.5610A>C
c.1869+1388A>C (n.1869+1388A>C)
c.3242A>C (p.Glu1081Ala)
c.3254A>C (p.Glu1085Ala)
c.3227A>C (p.Glu1076Ala)
c.3173A>C (p.Glu1058Ala)
c.2573A>C (p.Glu858Ala)
c.3521A>C (p.Glu1174Ala)
c.3518A>C (p.Glu1173Ala)
c.3437A>C (p.Glu1146Ala)
c.3368A>C (p.Glu1123Ala)
c.3236A>C (p.Glu1079Ala)
c.3104A>C (p.Glu1035Ala)
20g.32435969A>GCA408562678ASXL1c.3257A>G (p.Glu1086Gly)
c.3074A>G (p.Glu1025Gly)
n.5610A>G
c.1869+1388A>G (n.1869+1388A>G)
c.3242A>G (p.Glu1081Gly)
c.3254A>G (p.Glu1085Gly)
c.3227A>G (p.Glu1076Gly)
c.3173A>G (p.Glu1058Gly)
c.2573A>G (p.Glu858Gly)
c.3521A>G (p.Glu1174Gly)
c.3518A>G (p.Glu1173Gly)
c.3437A>G (p.Glu1146Gly)
c.3368A>G (p.Glu1123Gly)
c.3236A>G (p.Glu1079Gly)
c.3104A>G (p.Glu1035Gly)
20g.32435969A>TCA408562679ASXL1c.3257A>T (p.Glu1086Val)
c.3074A>T (p.Glu1025Val)
n.5610A>T
c.1869+1388A>T (n.1869+1388A>T)
c.3242A>T (p.Glu1081Val)
c.3254A>T (p.Glu1085Val)
c.3227A>T (p.Glu1076Val)
c.3173A>T (p.Glu1058Val)
c.2573A>T (p.Glu858Val)
c.3521A>T (p.Glu1174Val)
c.3518A>T (p.Glu1173Val)
c.3437A>T (p.Glu1146Val)
c.3368A>T (p.Glu1123Val)
c.3236A>T (p.Glu1079Val)
c.3104A>T (p.Glu1035Val)
20g.32435970G>ACA510467183ASXL1c.3258G>A (p.Glu1086=)
c.3075G>A (p.Glu1025=)
n.5611G>A
c.1869+1389G>A (n.1869+1389G>A)
c.3243G>A (p.Glu1081=)
c.3255G>A (p.Glu1085=)
c.3228G>A (p.Glu1076=)
c.3174G>A (p.Glu1058=)
c.2574G>A (p.Glu858=)
c.3522G>A (p.Glu1174=)
c.3519G>A (p.Glu1173=)
c.3438G>A (p.Glu1146=)
c.3369G>A (p.Glu1123=)
c.3237G>A (p.Glu1079=)
c.3105G>A (p.Glu1035=)
 dbSNP
20g.32435970G>CCA408562680ASXL1c.3258G>C (p.Glu1086Asp)
c.3075G>C (p.Glu1025Asp)
n.5611G>C
c.1869+1389G>C (n.1869+1389G>C)
c.3243G>C (p.Glu1081Asp)
c.3255G>C (p.Glu1085Asp)
c.3228G>C (p.Glu1076Asp)
c.3174G>C (p.Glu1058Asp)
c.2574G>C (p.Glu858Asp)
c.3522G>C (p.Glu1174Asp)
c.3519G>C (p.Glu1173Asp)
c.3438G>C (p.Glu1146Asp)
c.3369G>C (p.Glu1123Asp)
c.3237G>C (p.Glu1079Asp)
c.3105G>C (p.Glu1035Asp)
 gnomAD v4
20g.32435970G>TCA408562681ASXL1c.3258G>T (p.Glu1086Asp)
c.3075G>T (p.Glu1025Asp)
n.5611G>T
c.1869+1389G>T (n.1869+1389G>T)
c.3243G>T (p.Glu1081Asp)
c.3255G>T (p.Glu1085Asp)
c.3228G>T (p.Glu1076Asp)
c.3174G>T (p.Glu1058Asp)
c.2574G>T (p.Glu858Asp)
c.3522G>T (p.Glu1174Asp)
c.3519G>T (p.Glu1173Asp)
c.3438G>T (p.Glu1146Asp)
c.3369G>T (p.Glu1123Asp)
c.3237G>T (p.Glu1079Asp)
c.3105G>T (p.Glu1035Asp)
20g.32435971T>ACA408562684ASXL1c.3259T>A (p.Tyr1087Asn)
c.3076T>A (p.Tyr1026Asn)
n.5612T>A
c.1869+1390T>A (n.1869+1390T>A)
c.3244T>A (p.Tyr1082Asn)
c.3256T>A (p.Tyr1086Asn)
c.3229T>A (p.Tyr1077Asn)
c.3175T>A (p.Tyr1059Asn)
c.2575T>A (p.Tyr859Asn)
c.3523T>A (p.Tyr1175Asn)
c.3520T>A (p.Tyr1174Asn)
c.3439T>A (p.Tyr1147Asn)
c.3370T>A (p.Tyr1124Asn)
c.3238T>A (p.Tyr1080Asn)
c.3106T>A (p.Tyr1036Asn)
20g.32435971T>CCA408562683ASXL1c.3259T>C (p.Tyr1087His)
c.3076T>C (p.Tyr1026His)
n.5612T>C
c.1869+1390T>C (n.1869+1390T>C)
c.3244T>C (p.Tyr1082His)
c.3256T>C (p.Tyr1086His)
c.3229T>C (p.Tyr1077His)
c.3175T>C (p.Tyr1059His)
c.2575T>C (p.Tyr859His)
c.3523T>C (p.Tyr1175His)
c.3520T>C (p.Tyr1174His)
c.3439T>C (p.Tyr1147His)
c.3370T>C (p.Tyr1124His)
c.3238T>C (p.Tyr1080His)
c.3106T>C (p.Tyr1036His)
 COSMIC
20g.32435971T>GCA408562682ASXL1c.3259T>G (p.Tyr1087Asp)
c.3076T>G (p.Tyr1026Asp)
n.5612T>G
c.1869+1390T>G (n.1869+1390T>G)
c.3244T>G (p.Tyr1082Asp)
c.3256T>G (p.Tyr1086Asp)
c.3229T>G (p.Tyr1077Asp)
c.3175T>G (p.Tyr1059Asp)
c.2575T>G (p.Tyr859Asp)
c.3523T>G (p.Tyr1175Asp)
c.3520T>G (p.Tyr1174Asp)
c.3439T>G (p.Tyr1147Asp)
c.3370T>G (p.Tyr1124Asp)
c.3238T>G (p.Tyr1080Asp)
c.3106T>G (p.Tyr1036Asp)
20g.32435972A=CA2360293478ASXL1c.3260A= (p.Tyr1087=)
c.3077A= (p.Tyr1026=)
n.5613A=
c.1869+1391A= (n.1869+1391A=)
c.3245A= (p.Tyr1082=)
c.3257A= (p.Tyr1086=)
c.3230A= (p.Tyr1077=)
c.3176A= (p.Tyr1059=)
c.2576A= (p.Tyr859=)
c.3524A= (p.Tyr1175=)
c.3521A= (p.Tyr1174=)
c.3440A= (p.Tyr1147=)
c.3371A= (p.Tyr1124=)
c.3239A= (p.Tyr1080=)
c.3107A= (p.Tyr1036=)
20g.32435972A>CCA408562687ASXL1c.3260A>C (p.Tyr1087Ser)
c.3077A>C (p.Tyr1026Ser)
n.5613A>C
c.1869+1391A>C (n.1869+1391A>C)
c.3245A>C (p.Tyr1082Ser)
c.3257A>C (p.Tyr1086Ser)
c.3230A>C (p.Tyr1077Ser)
c.3176A>C (p.Tyr1059Ser)
c.2576A>C (p.Tyr859Ser)
c.3524A>C (p.Tyr1175Ser)
c.3521A>C (p.Tyr1174Ser)
c.3440A>C (p.Tyr1147Ser)
c.3371A>C (p.Tyr1124Ser)
c.3239A>C (p.Tyr1080Ser)
c.3107A>C (p.Tyr1036Ser)
 dbSNP
20g.32435972A>GCA408562685ASXL1c.3260A>G (p.Tyr1087Cys)
c.3077A>G (p.Tyr1026Cys)
n.5613A>G
c.1869+1391A>G (n.1869+1391A>G)
c.3245A>G (p.Tyr1082Cys)
c.3257A>G (p.Tyr1086Cys)
c.3230A>G (p.Tyr1077Cys)
c.3176A>G (p.Tyr1059Cys)
c.2576A>G (p.Tyr859Cys)
c.3524A>G (p.Tyr1175Cys)
c.3521A>G (p.Tyr1174Cys)
c.3440A>G (p.Tyr1147Cys)
c.3371A>G (p.Tyr1124Cys)
c.3239A>G (p.Tyr1080Cys)
c.3107A>G (p.Tyr1036Cys)
20g.32435972A>TCA408562686ASXL1c.3260A>T (p.Tyr1087Phe)
c.3077A>T (p.Tyr1026Phe)
n.5613A>T
c.1869+1391A>T (n.1869+1391A>T)
c.3245A>T (p.Tyr1082Phe)
c.3257A>T (p.Tyr1086Phe)
c.3230A>T (p.Tyr1077Phe)
c.3176A>T (p.Tyr1059Phe)
c.2576A>T (p.Tyr859Phe)
c.3524A>T (p.Tyr1175Phe)
c.3521A>T (p.Tyr1174Phe)
c.3440A>T (p.Tyr1147Phe)
c.3371A>T (p.Tyr1124Phe)
c.3239A>T (p.Tyr1080Phe)
c.3107A>T (p.Tyr1036Phe)
20g.32435973C>ACA408562688ASXL1c.3261C>A (p.Tyr1087Ter)
c.3078C>A (p.Tyr1026Ter)
n.5614C>A
c.1869+1392C>A (n.1869+1392C>A)
c.3246C>A (p.Tyr1082Ter)
c.3258C>A (p.Tyr1086Ter)
c.3231C>A (p.Tyr1077Ter)
c.3177C>A (p.Tyr1059Ter)
c.2577C>A (p.Tyr859Ter)
c.3525C>A (p.Tyr1175Ter)
c.3522C>A (p.Tyr1174Ter)
c.3441C>A (p.Tyr1147Ter)
c.3372C>A (p.Tyr1124Ter)
c.3240C>A (p.Tyr1080Ter)
c.3108C>A (p.Tyr1036Ter)
20g.32435973C>GCA408562689ASXL1c.3261C>G (p.Tyr1087Ter)
c.3078C>G (p.Tyr1026Ter)
n.5614C>G
c.1869+1392C>G (n.1869+1392C>G)
c.3246C>G (p.Tyr1082Ter)
c.3258C>G (p.Tyr1086Ter)
c.3231C>G (p.Tyr1077Ter)
c.3177C>G (p.Tyr1059Ter)
c.2577C>G (p.Tyr859Ter)
c.3525C>G (p.Tyr1175Ter)
c.3522C>G (p.Tyr1174Ter)
c.3441C>G (p.Tyr1147Ter)
c.3372C>G (p.Tyr1124Ter)
c.3240C>G (p.Tyr1080Ter)
c.3108C>G (p.Tyr1036Ter)
20g.32435973C>TCA510467187ASXL1c.3261C>T (p.Tyr1087=)
c.3078C>T (p.Tyr1026=)
n.5614C>T
c.1869+1392C>T (n.1869+1392C>T)
c.3246C>T (p.Tyr1082=)
c.3258C>T (p.Tyr1086=)
c.3231C>T (p.Tyr1077=)
c.3177C>T (p.Tyr1059=)
c.2577C>T (p.Tyr859=)
c.3525C>T (p.Tyr1175=)
c.3522C>T (p.Tyr1174=)
c.3441C>T (p.Tyr1147=)
c.3372C>T (p.Tyr1124=)
c.3240C>T (p.Tyr1080=)
c.3108C>T (p.Tyr1036=)
 dbSNP
20g.32435974C>ACA408562690ASXL1c.3262C>A (p.Gln1088Lys)
c.3079C>A (p.Gln1027Lys)
n.5615C>A
c.1869+1393C>A (n.1869+1393C>A)
c.3247C>A (p.Gln1083Lys)
c.3259C>A (p.Gln1087Lys)
c.3232C>A (p.Gln1078Lys)
c.3178C>A (p.Gln1060Lys)
c.2578C>A (p.Gln860Lys)
c.3526C>A (p.Gln1176Lys)
c.3523C>A (p.Gln1175Lys)
c.3442C>A (p.Gln1148Lys)
c.3373C>A (p.Gln1125Lys)
c.3241C>A (p.Gln1081Lys)
c.3109C>A (p.Gln1037Lys)
20g.32435974C>GCA408562691ASXL1c.3262C>G (p.Gln1088Glu)
c.3079C>G (p.Gln1027Glu)
n.5615C>G
c.1869+1393C>G (n.1869+1393C>G)
c.3247C>G (p.Gln1083Glu)
c.3259C>G (p.Gln1087Glu)
c.3232C>G (p.Gln1078Glu)
c.3178C>G (p.Gln1060Glu)
c.2578C>G (p.Gln860Glu)
c.3526C>G (p.Gln1176Glu)
c.3523C>G (p.Gln1175Glu)
c.3442C>G (p.Gln1148Glu)
c.3373C>G (p.Gln1125Glu)
c.3241C>G (p.Gln1081Glu)
c.3109C>G (p.Gln1037Glu)
20g.32435974C>TCA408562692ASXL1c.3262C>T (p.Gln1088Ter)
c.3079C>T (p.Gln1027Ter)
n.5615C>T
c.1869+1393C>T (n.1869+1393C>T)
c.3247C>T (p.Gln1083Ter)
c.3259C>T (p.Gln1087Ter)
c.3232C>T (p.Gln1078Ter)
c.3178C>T (p.Gln1060Ter)
c.2578C>T (p.Gln860Ter)
c.3526C>T (p.Gln1176Ter)
c.3523C>T (p.Gln1175Ter)
c.3442C>T (p.Gln1148Ter)
c.3373C>T (p.Gln1125Ter)
c.3241C>T (p.Gln1081Ter)
c.3109C>T (p.Gln1037Ter)
20g.32435975A>CCA408562693ASXL1c.3263A>C (p.Gln1088Pro)
c.3080A>C (p.Gln1027Pro)
n.5616A>C
c.1869+1394A>C (n.1869+1394A>C)
c.3248A>C (p.Gln1083Pro)
c.3260A>C (p.Gln1087Pro)
c.3233A>C (p.Gln1078Pro)
c.3179A>C (p.Gln1060Pro)
c.2579A>C (p.Gln860Pro)
c.3527A>C (p.Gln1176Pro)
c.3524A>C (p.Gln1175Pro)
c.3443A>C (p.Gln1148Pro)
c.3374A>C (p.Gln1125Pro)
c.3242A>C (p.Gln1081Pro)
c.3110A>C (p.Gln1037Pro)
20g.32435975A>GCA408562694ASXL1c.3263A>G (p.Gln1088Arg)
c.3080A>G (p.Gln1027Arg)
n.5616A>G
c.1869+1394A>G (n.1869+1394A>G)
c.3248A>G (p.Gln1083Arg)
c.3260A>G (p.Gln1087Arg)
c.3233A>G (p.Gln1078Arg)
c.3179A>G (p.Gln1060Arg)
c.2579A>G (p.Gln860Arg)
c.3527A>G (p.Gln1176Arg)
c.3524A>G (p.Gln1175Arg)
c.3443A>G (p.Gln1148Arg)
c.3374A>G (p.Gln1125Arg)
c.3242A>G (p.Gln1081Arg)
c.3110A>G (p.Gln1037Arg)
20g.32435975A>TCA408562695ASXL1c.3263A>T (p.Gln1088Leu)
c.3080A>T (p.Gln1027Leu)
n.5616A>T
c.1869+1394A>T (n.1869+1394A>T)
c.3248A>T (p.Gln1083Leu)
c.3260A>T (p.Gln1087Leu)
c.3233A>T (p.Gln1078Leu)
c.3179A>T (p.Gln1060Leu)
c.2579A>T (p.Gln860Leu)
c.3527A>T (p.Gln1176Leu)
c.3524A>T (p.Gln1175Leu)
c.3443A>T (p.Gln1148Leu)
c.3374A>T (p.Gln1125Leu)
c.3242A>T (p.Gln1081Leu)
c.3110A>T (p.Gln1037Leu)
20g.32435976G>ACA510467191ASXL1c.3264G>A (p.Gln1088=)
c.3081G>A (p.Gln1027=)
n.5617G>A
c.1869+1395G>A (n.1869+1395G>A)
c.3249G>A (p.Gln1083=)
c.3261G>A (p.Gln1087=)
c.3234G>A (p.Gln1078=)
c.3180G>A (p.Gln1060=)
c.2580G>A (p.Gln860=)
c.3528G>A (p.Gln1176=)
c.3525G>A (p.Gln1175=)
c.3444G>A (p.Gln1148=)
c.3375G>A (p.Gln1125=)
c.3243G>A (p.Gln1081=)
c.3111G>A (p.Gln1037=)
 gnomAD v4
20g.32435976G>CCA408562696ASXL1c.3264G>C (p.Gln1088His)
c.3081G>C (p.Gln1027His)
n.5617G>C
c.1869+1395G>C (n.1869+1395G>C)
c.3249G>C (p.Gln1083His)
c.3261G>C (p.Gln1087His)
c.3234G>C (p.Gln1078His)
c.3180G>C (p.Gln1060His)
c.2580G>C (p.Gln860His)
c.3528G>C (p.Gln1176His)
c.3525G>C (p.Gln1175His)
c.3444G>C (p.Gln1148His)
c.3375G>C (p.Gln1125His)
c.3243G>C (p.Gln1081His)
c.3111G>C (p.Gln1037His)
20g.32435976G>TCA408562697ASXL1c.3264G>T (p.Gln1088His)
c.3081G>T (p.Gln1027His)
n.5617G>T
c.1869+1395G>T (n.1869+1395G>T)
c.3249G>T (p.Gln1083His)
c.3261G>T (p.Gln1087His)
c.3234G>T (p.Gln1078His)
c.3180G>T (p.Gln1060His)
c.2580G>T (p.Gln860His)
c.3528G>T (p.Gln1176His)
c.3525G>T (p.Gln1175His)
c.3444G>T (p.Gln1148His)
c.3375G>T (p.Gln1125His)
c.3243G>T (p.Gln1081His)
c.3111G>T (p.Gln1037His)
20g.32435977C>ACA408562700ASXL1c.3265C>A (p.Pro1089Thr)
c.3082C>A (p.Pro1028Thr)
n.5618C>A
c.1869+1396C>A (n.1869+1396C>A)
c.3250C>A (p.Pro1084Thr)
c.3262C>A (p.Pro1088Thr)
c.3235C>A (p.Pro1079Thr)
c.3181C>A (p.Pro1061Thr)
c.2581C>A (p.Pro861Thr)
c.3529C>A (p.Pro1177Thr)
c.3526C>A (p.Pro1176Thr)
c.3445C>A (p.Pro1149Thr)
c.3376C>A (p.Pro1126Thr)
c.3244C>A (p.Pro1082Thr)
c.3112C>A (p.Pro1038Thr)
 dbSNP
20g.32435977C=CA2360293479ASXL1c.3265C= (p.Pro1089=)
c.3082C= (p.Pro1028=)
n.5618C=
c.1869+1396C= (n.1869+1396C=)
c.3250C= (p.Pro1084=)
c.3262C= (p.Pro1088=)
c.3235C= (p.Pro1079=)
c.3181C= (p.Pro1061=)
c.2581C= (p.Pro861=)
c.3529C= (p.Pro1177=)
c.3526C= (p.Pro1176=)
c.3445C= (p.Pro1149=)
c.3376C= (p.Pro1126=)
c.3244C= (p.Pro1082=)
c.3112C= (p.Pro1038=)
20g.32435977C>GCA408562699ASXL1c.3265C>G (p.Pro1089Ala)
c.3082C>G (p.Pro1028Ala)
n.5618C>G
c.1869+1396C>G (n.1869+1396C>G)
c.3250C>G (p.Pro1084Ala)
c.3262C>G (p.Pro1088Ala)
c.3235C>G (p.Pro1079Ala)
c.3181C>G (p.Pro1061Ala)
c.2581C>G (p.Pro861Ala)
c.3529C>G (p.Pro1177Ala)
c.3526C>G (p.Pro1176Ala)
c.3445C>G (p.Pro1149Ala)
c.3376C>G (p.Pro1126Ala)
c.3244C>G (p.Pro1082Ala)
c.3112C>G (p.Pro1038Ala)
 ClinVar dbSNP
20g.32435977C>TCA408562698ASXL1c.3265C>T (p.Pro1089Ser)
c.3082C>T (p.Pro1028Ser)
n.5618C>T
c.1869+1396C>T (n.1869+1396C>T)
c.3250C>T (p.Pro1084Ser)
c.3262C>T (p.Pro1088Ser)
c.3235C>T (p.Pro1079Ser)
c.3181C>T (p.Pro1061Ser)
c.2581C>T (p.Pro861Ser)
c.3529C>T (p.Pro1177Ser)
c.3526C>T (p.Pro1176Ser)
c.3445C>T (p.Pro1149Ser)
c.3376C>T (p.Pro1126Ser)
c.3244C>T (p.Pro1082Ser)
c.3112C>T (p.Pro1038Ser)
 dbSNP
20g.32435978C>ACA408562701ASXL1c.3266C>A (p.Pro1089Gln)
c.3083C>A (p.Pro1028Gln)
n.5619C>A
c.1869+1397C>A (n.1869+1397C>A)
c.3251C>A (p.Pro1084Gln)
c.3263C>A (p.Pro1088Gln)
c.3236C>A (p.Pro1079Gln)
c.3182C>A (p.Pro1061Gln)
c.2582C>A (p.Pro861Gln)
c.3530C>A (p.Pro1177Gln)
c.3527C>A (p.Pro1176Gln)
c.3446C>A (p.Pro1149Gln)
c.3377C>A (p.Pro1126Gln)
c.3245C>A (p.Pro1082Gln)
c.3113C>A (p.Pro1038Gln)
20g.32435978C=CA2360293480ASXL1c.3266C= (p.Pro1089=)
c.3083C= (p.Pro1028=)
n.5619C=
c.1869+1397C= (n.1869+1397C=)
c.3251C= (p.Pro1084=)
c.3263C= (p.Pro1088=)
c.3236C= (p.Pro1079=)
c.3182C= (p.Pro1061=)
c.2582C= (p.Pro861=)
c.3530C= (p.Pro1177=)
c.3527C= (p.Pro1176=)
c.3446C= (p.Pro1149=)
c.3377C= (p.Pro1126=)
c.3245C= (p.Pro1082=)
c.3113C= (p.Pro1038=)
20g.32435978C>GCA408562702ASXL1c.3266C>G (p.Pro1089Arg)
c.3083C>G (p.Pro1028Arg)
n.5619C>G
c.1869+1397C>G (n.1869+1397C>G)
c.3251C>G (p.Pro1084Arg)
c.3263C>G (p.Pro1088Arg)
c.3236C>G (p.Pro1079Arg)
c.3182C>G (p.Pro1061Arg)
c.2582C>G (p.Pro861Arg)
c.3530C>G (p.Pro1177Arg)
c.3527C>G (p.Pro1176Arg)
c.3446C>G (p.Pro1149Arg)
c.3377C>G (p.Pro1126Arg)
c.3245C>G (p.Pro1082Arg)
c.3113C>G (p.Pro1038Arg)
20g.32435978C>TCA408562703ASXL1c.3266C>T (p.Pro1089Leu)
c.3083C>T (p.Pro1028Leu)
n.5619C>T
c.1869+1397C>T (n.1869+1397C>T)
c.3251C>T (p.Pro1084Leu)
c.3263C>T (p.Pro1088Leu)
c.3236C>T (p.Pro1079Leu)
c.3182C>T (p.Pro1061Leu)
c.2582C>T (p.Pro861Leu)
c.3530C>T (p.Pro1177Leu)
c.3527C>T (p.Pro1176Leu)
c.3446C>T (p.Pro1149Leu)
c.3377C>T (p.Pro1126Leu)
c.3245C>T (p.Pro1082Leu)
c.3113C>T (p.Pro1038Leu)
 dbSNP
20g.32435979A>CCA510467195ASXL1c.3267A>C (p.Pro1089=)
c.3084A>C (p.Pro1028=)
n.5620A>C
c.1869+1398A>C (n.1869+1398A>C)
c.3252A>C (p.Pro1084=)
c.3264A>C (p.Pro1088=)
c.3237A>C (p.Pro1079=)
c.3183A>C (p.Pro1061=)
c.2583A>C (p.Pro861=)
c.3531A>C (p.Pro1177=)
c.3528A>C (p.Pro1176=)
c.3447A>C (p.Pro1149=)
c.3378A>C (p.Pro1126=)
c.3246A>C (p.Pro1082=)
c.3114A>C (p.Pro1038=)
20g.32435979A>GCA510467196ASXL1c.3267A>G (p.Pro1089=)
c.3084A>G (p.Pro1028=)
n.5620A>G
c.1869+1398A>G (n.1869+1398A>G)
c.3252A>G (p.Pro1084=)
c.3264A>G (p.Pro1088=)
c.3237A>G (p.Pro1079=)
c.3183A>G (p.Pro1061=)
c.2583A>G (p.Pro861=)
c.3531A>G (p.Pro1177=)
c.3528A>G (p.Pro1176=)
c.3447A>G (p.Pro1149=)
c.3378A>G (p.Pro1126=)
c.3246A>G (p.Pro1082=)
c.3114A>G (p.Pro1038=)
 gnomAD v4
20g.32435979A>TCA510467198ASXL1c.3267A>T (p.Pro1089=)
c.3084A>T (p.Pro1028=)
n.5620A>T
c.1869+1398A>T (n.1869+1398A>T)
c.3252A>T (p.Pro1084=)
c.3264A>T (p.Pro1088=)
c.3237A>T (p.Pro1079=)
c.3183A>T (p.Pro1061=)
c.2583A>T (p.Pro861=)
c.3531A>T (p.Pro1177=)
c.3528A>T (p.Pro1176=)
c.3447A>T (p.Pro1149=)
c.3378A>T (p.Pro1126=)
c.3246A>T (p.Pro1082=)
c.3114A>T (p.Pro1038=)
20g.32435980A=CA2360293481ASXL1c.3268A= (p.Arg1090=)
c.3085A= (p.Arg1029=)
n.5621A=
c.1869+1399A= (n.1869+1399A=)
c.3253A= (p.Arg1085=)
c.3265A= (p.Arg1089=)
c.3238A= (p.Arg1080=)
c.3184A= (p.Arg1062=)
c.2584A= (p.Arg862=)
c.3532A= (p.Arg1178=)
c.3529A= (p.Arg1177=)
c.3448A= (p.Arg1150=)
c.3379A= (p.Arg1127=)
c.3247A= (p.Arg1083=)
c.3115A= (p.Arg1039=)
20g.32435980A>CCA510467199ASXL1c.3268A>C (p.Arg1090=)
c.3085A>C (p.Arg1029=)
n.5621A>C
c.1869+1399A>C (n.1869+1399A>C)
c.3253A>C (p.Arg1085=)
c.3265A>C (p.Arg1089=)
c.3238A>C (p.Arg1080=)
c.3184A>C (p.Arg1062=)
c.2584A>C (p.Arg862=)
c.3532A>C (p.Arg1178=)
c.3529A>C (p.Arg1177=)
c.3448A>C (p.Arg1150=)
c.3379A>C (p.Arg1127=)
c.3247A>C (p.Arg1083=)
c.3115A>C (p.Arg1039=)
 gnomAD v4
20g.32435980A>GCA408562704ASXL1c.3268A>G (p.Arg1090Gly)
c.3085A>G (p.Arg1029Gly)
n.5621A>G
c.1869+1399A>G (n.1869+1399A>G)
c.3253A>G (p.Arg1085Gly)
c.3265A>G (p.Arg1089Gly)
c.3238A>G (p.Arg1080Gly)
c.3184A>G (p.Arg1062Gly)
c.2584A>G (p.Arg862Gly)
c.3532A>G (p.Arg1178Gly)
c.3529A>G (p.Arg1177Gly)
c.3448A>G (p.Arg1150Gly)
c.3379A>G (p.Arg1127Gly)
c.3247A>G (p.Arg1083Gly)
c.3115A>G (p.Arg1039Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32435980A>TCA408562705ASXL1c.3268A>T (p.Arg1090Ter)
c.3085A>T (p.Arg1029Ter)
n.5621A>T
c.1869+1399A>T (n.1869+1399A>T)
c.3253A>T (p.Arg1085Ter)
c.3265A>T (p.Arg1089Ter)
c.3238A>T (p.Arg1080Ter)
c.3184A>T (p.Arg1062Ter)
c.2584A>T (p.Arg862Ter)
c.3532A>T (p.Arg1178Ter)
c.3529A>T (p.Arg1177Ter)
c.3448A>T (p.Arg1150Ter)
c.3379A>T (p.Arg1127Ter)
c.3247A>T (p.Arg1083Ter)
c.3115A>T (p.Arg1039Ter)
20g.32435981G>ACA408562706ASXL1c.3269G>A (p.Arg1090Lys)
c.3086G>A (p.Arg1029Lys)
n.5622G>A
c.1869+1400G>A (n.1869+1400G>A)
c.3254G>A (p.Arg1085Lys)
c.3266G>A (p.Arg1089Lys)
c.3239G>A (p.Arg1080Lys)
c.3185G>A (p.Arg1062Lys)
c.2585G>A (p.Arg862Lys)
c.3533G>A (p.Arg1178Lys)
c.3530G>A (p.Arg1177Lys)
c.3449G>A (p.Arg1150Lys)
c.3380G>A (p.Arg1127Lys)
c.3248G>A (p.Arg1083Lys)
c.3116G>A (p.Arg1039Lys)
20g.32435981G>CCA408562707ASXL1c.3269G>C (p.Arg1090Thr)
c.3086G>C (p.Arg1029Thr)
n.5622G>C
c.1869+1400G>C (n.1869+1400G>C)
c.3254G>C (p.Arg1085Thr)
c.3266G>C (p.Arg1089Thr)
c.3239G>C (p.Arg1080Thr)
c.3185G>C (p.Arg1062Thr)
c.2585G>C (p.Arg862Thr)
c.3533G>C (p.Arg1178Thr)
c.3530G>C (p.Arg1177Thr)
c.3449G>C (p.Arg1150Thr)
c.3380G>C (p.Arg1127Thr)
c.3248G>C (p.Arg1083Thr)
c.3116G>C (p.Arg1039Thr)
 COSMIC COSMIC
20g.32435981G>TCA408562708ASXL1c.3269G>T (p.Arg1090Ile)
c.3086G>T (p.Arg1029Ile)
n.5622G>T
c.1869+1400G>T (n.1869+1400G>T)
c.3254G>T (p.Arg1085Ile)
c.3266G>T (p.Arg1089Ile)
c.3239G>T (p.Arg1080Ile)
c.3185G>T (p.Arg1062Ile)
c.2585G>T (p.Arg862Ile)
c.3533G>T (p.Arg1178Ile)
c.3530G>T (p.Arg1177Ile)
c.3449G>T (p.Arg1150Ile)
c.3380G>T (p.Arg1127Ile)
c.3248G>T (p.Arg1083Ile)
c.3116G>T (p.Arg1039Ile)
20g.32435982A>CCA408562709ASXL1c.3270A>C (p.Arg1090Ser)
c.3087A>C (p.Arg1029Ser)
n.5623A>C
c.1869+1401A>C (n.1869+1401A>C)
c.3255A>C (p.Arg1085Ser)
c.3267A>C (p.Arg1089Ser)
c.3240A>C (p.Arg1080Ser)
c.3186A>C (p.Arg1062Ser)
c.2586A>C (p.Arg862Ser)
c.3534A>C (p.Arg1178Ser)
c.3531A>C (p.Arg1177Ser)
c.3450A>C (p.Arg1150Ser)
c.3381A>C (p.Arg1127Ser)
c.3249A>C (p.Arg1083Ser)
c.3117A>C (p.Arg1039Ser)
20g.32435982A>GCA510467200ASXL1c.3270A>G (p.Arg1090=)
c.3087A>G (p.Arg1029=)
n.5623A>G
c.1869+1401A>G (n.1869+1401A>G)
c.3255A>G (p.Arg1085=)
c.3267A>G (p.Arg1089=)
c.3240A>G (p.Arg1080=)
c.3186A>G (p.Arg1062=)
c.2586A>G (p.Arg862=)
c.3534A>G (p.Arg1178=)
c.3531A>G (p.Arg1177=)
c.3450A>G (p.Arg1150=)
c.3381A>G (p.Arg1127=)
c.3249A>G (p.Arg1083=)
c.3117A>G (p.Arg1039=)
20g.32435982A>TCA408562710ASXL1c.3270A>T (p.Arg1090Ser)
c.3087A>T (p.Arg1029Ser)
n.5623A>T
c.1869+1401A>T (n.1869+1401A>T)
c.3255A>T (p.Arg1085Ser)
c.3267A>T (p.Arg1089Ser)
c.3240A>T (p.Arg1080Ser)
c.3186A>T (p.Arg1062Ser)
c.2586A>T (p.Arg862Ser)
c.3534A>T (p.Arg1178Ser)
c.3531A>T (p.Arg1177Ser)
c.3450A>T (p.Arg1150Ser)
c.3381A>T (p.Arg1127Ser)
c.3249A>T (p.Arg1083Ser)
c.3117A>T (p.Arg1039Ser)
20g.32435983G>ACA408562711ASXL1c.3271G>A (p.Ala1091Thr)
c.3088G>A (p.Ala1030Thr)
n.5624G>A
c.1869+1402G>A (n.1869+1402G>A)
c.3256G>A (p.Ala1086Thr)
c.3268G>A (p.Ala1090Thr)
c.3241G>A (p.Ala1081Thr)
c.3187G>A (p.Ala1063Thr)
c.2587G>A (p.Ala863Thr)
c.3535G>A (p.Ala1179Thr)
c.3532G>A (p.Ala1178Thr)
c.3451G>A (p.Ala1151Thr)
c.3382G>A (p.Ala1128Thr)
c.3250G>A (p.Ala1084Thr)
c.3118G>A (p.Ala1040Thr)
 ClinVar dbSNP gnomAD v4
20g.32435983G>CCA408562712ASXL1c.3271G>C (p.Ala1091Pro)
c.3088G>C (p.Ala1030Pro)
n.5624G>C
c.1869+1402G>C (n.1869+1402G>C)
c.3256G>C (p.Ala1086Pro)
c.3268G>C (p.Ala1090Pro)
c.3241G>C (p.Ala1081Pro)
c.3187G>C (p.Ala1063Pro)
c.2587G>C (p.Ala863Pro)
c.3535G>C (p.Ala1179Pro)
c.3532G>C (p.Ala1178Pro)
c.3451G>C (p.Ala1151Pro)
c.3382G>C (p.Ala1128Pro)
c.3250G>C (p.Ala1084Pro)
c.3118G>C (p.Ala1040Pro)
 dbSNP
20g.32435983G=CA2360293482ASXL1c.3271G= (p.Ala1091=)
c.3088G= (p.Ala1030=)
n.5624G=
c.1869+1402G= (n.1869+1402G=)
c.3256G= (p.Ala1086=)
c.3268G= (p.Ala1090=)
c.3241G= (p.Ala1081=)
c.3187G= (p.Ala1063=)
c.2587G= (p.Ala863=)
c.3535G= (p.Ala1179=)
c.3532G= (p.Ala1178=)
c.3451G= (p.Ala1151=)
c.3382G= (p.Ala1128=)
c.3250G= (p.Ala1084=)
c.3118G= (p.Ala1040=)
20g.32435983G>TCA408562713ASXL1c.3271G>T (p.Ala1091Ser)
c.3088G>T (p.Ala1030Ser)
n.5624G>T
c.1869+1402G>T (n.1869+1402G>T)
c.3256G>T (p.Ala1086Ser)
c.3268G>T (p.Ala1090Ser)
c.3241G>T (p.Ala1081Ser)
c.3187G>T (p.Ala1063Ser)
c.2587G>T (p.Ala863Ser)
c.3535G>T (p.Ala1179Ser)
c.3532G>T (p.Ala1178Ser)
c.3451G>T (p.Ala1151Ser)
c.3382G>T (p.Ala1128Ser)
c.3250G>T (p.Ala1084Ser)
c.3118G>T (p.Ala1040Ser)
20g.32435984C>ACA408562715ASXL1c.3272C>A (p.Ala1091Asp)
c.3089C>A (p.Ala1030Asp)
n.5625C>A
c.1869+1403C>A (n.1869+1403C>A)
c.3257C>A (p.Ala1086Asp)
c.3269C>A (p.Ala1090Asp)
c.3242C>A (p.Ala1081Asp)
c.3188C>A (p.Ala1063Asp)
c.2588C>A (p.Ala863Asp)
c.3536C>A (p.Ala1179Asp)
c.3533C>A (p.Ala1178Asp)
c.3452C>A (p.Ala1151Asp)
c.3383C>A (p.Ala1128Asp)
c.3251C>A (p.Ala1084Asp)
c.3119C>A (p.Ala1040Asp)
20g.32435984C>GCA408562716ASXL1c.3272C>G (p.Ala1091Gly)
c.3089C>G (p.Ala1030Gly)
n.5625C>G
c.1869+1403C>G (n.1869+1403C>G)
c.3257C>G (p.Ala1086Gly)
c.3269C>G (p.Ala1090Gly)
c.3242C>G (p.Ala1081Gly)
c.3188C>G (p.Ala1063Gly)
c.2588C>G (p.Ala863Gly)
c.3536C>G (p.Ala1179Gly)
c.3533C>G (p.Ala1178Gly)
c.3452C>G (p.Ala1151Gly)
c.3383C>G (p.Ala1128Gly)
c.3251C>G (p.Ala1084Gly)
c.3119C>G (p.Ala1040Gly)
20g.32435984C>TCA408562714ASXL1c.3272C>T (p.Ala1091Val)
c.3089C>T (p.Ala1030Val)
n.5625C>T
c.1869+1403C>T (n.1869+1403C>T)
c.3257C>T (p.Ala1086Val)
c.3269C>T (p.Ala1090Val)
c.3242C>T (p.Ala1081Val)
c.3188C>T (p.Ala1063Val)
c.2588C>T (p.Ala863Val)
c.3536C>T (p.Ala1179Val)
c.3533C>T (p.Ala1178Val)
c.3452C>T (p.Ala1151Val)
c.3383C>T (p.Ala1128Val)
c.3251C>T (p.Ala1084Val)
c.3119C>T (p.Ala1040Val)
20g.32435985C>ACA510467202ASXL1c.3273C>A (p.Ala1091=)
c.3090C>A (p.Ala1030=)
n.5626C>A
c.1869+1404C>A (n.1869+1404C>A)
c.3258C>A (p.Ala1086=)
c.3270C>A (p.Ala1090=)
c.3243C>A (p.Ala1081=)
c.3189C>A (p.Ala1063=)
c.2589C>A (p.Ala863=)
c.3537C>A (p.Ala1179=)
c.3534C>A (p.Ala1178=)
c.3453C>A (p.Ala1151=)
c.3384C>A (p.Ala1128=)
c.3252C>A (p.Ala1084=)
c.3120C>A (p.Ala1040=)
20g.32435985C=CA2360293483ASXL1c.3273C= (p.Ala1091=)
c.3090C= (p.Ala1030=)
n.5626C=
c.1869+1404C= (n.1869+1404C=)
c.3258C= (p.Ala1086=)
c.3270C= (p.Ala1090=)
c.3243C= (p.Ala1081=)
c.3189C= (p.Ala1063=)
c.2589C= (p.Ala863=)
c.3537C= (p.Ala1179=)
c.3534C= (p.Ala1178=)
c.3453C= (p.Ala1151=)
c.3384C= (p.Ala1128=)
c.3252C= (p.Ala1084=)
c.3120C= (p.Ala1040=)
20g.32435985C>GCA510467203ASXL1c.3273C>G (p.Ala1091=)
c.3090C>G (p.Ala1030=)
n.5626C>G
c.1869+1404C>G (n.1869+1404C>G)
c.3258C>G (p.Ala1086=)
c.3270C>G (p.Ala1090=)
c.3243C>G (p.Ala1081=)
c.3189C>G (p.Ala1063=)
c.2589C>G (p.Ala863=)
c.3537C>G (p.Ala1179=)
c.3534C>G (p.Ala1178=)
c.3453C>G (p.Ala1151=)
c.3384C>G (p.Ala1128=)
c.3252C>G (p.Ala1084=)
c.3120C>G (p.Ala1040=)
20g.32435985C>TCA9808785ASXL1c.3273C>T (p.Ala1091=)
c.3090C>T (p.Ala1030=)
n.5626C>T
c.1869+1404C>T (n.1869+1404C>T)
c.3258C>T (p.Ala1086=)
c.3270C>T (p.Ala1090=)
c.3243C>T (p.Ala1081=)
c.3189C>T (p.Ala1063=)
c.2589C>T (p.Ala863=)
c.3537C>T (p.Ala1179=)
c.3534C>T (p.Ala1178=)
c.3453C>T (p.Ala1151=)
c.3384C>T (p.Ala1128=)
c.3252C>T (p.Ala1084=)
c.3120C>T (p.Ala1040=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435986G>ACA9808786ASXL1c.3274G>A (p.Val1092Met)
c.3091G>A (p.Val1031Met)
n.5627G>A
c.1869+1405G>A (n.1869+1405G>A)
c.3259G>A (p.Val1087Met)
c.3271G>A (p.Val1091Met)
c.3244G>A (p.Val1082Met)
c.3190G>A (p.Val1064Met)
c.2590G>A (p.Val864Met)
c.3538G>A (p.Val1180Met)
c.3535G>A (p.Val1179Met)
c.3454G>A (p.Val1152Met)
c.3385G>A (p.Val1129Met)
c.3253G>A (p.Val1085Met)
c.3121G>A (p.Val1041Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435986G>CCA408562717ASXL1c.3274G>C (p.Val1092Leu)
c.3091G>C (p.Val1031Leu)
n.5627G>C
c.1869+1405G>C (n.1869+1405G>C)
c.3259G>C (p.Val1087Leu)
c.3271G>C (p.Val1091Leu)
c.3244G>C (p.Val1082Leu)
c.3190G>C (p.Val1064Leu)
c.2590G>C (p.Val864Leu)
c.3538G>C (p.Val1180Leu)
c.3535G>C (p.Val1179Leu)
c.3454G>C (p.Val1152Leu)
c.3385G>C (p.Val1129Leu)
c.3253G>C (p.Val1085Leu)
c.3121G>C (p.Val1041Leu)
20g.32435986G=CA2360293484ASXL1c.3274G= (p.Val1092=)
c.3091G= (p.Val1031=)
n.5627G=
c.1869+1405G= (n.1869+1405G=)
c.3259G= (p.Val1087=)
c.3271G= (p.Val1091=)
c.3244G= (p.Val1082=)
c.3190G= (p.Val1064=)
c.2590G= (p.Val864=)
c.3538G= (p.Val1180=)
c.3535G= (p.Val1179=)
c.3454G= (p.Val1152=)
c.3385G= (p.Val1129=)
c.3253G= (p.Val1085=)
c.3121G= (p.Val1041=)
20g.32435986G>TCA408562718ASXL1c.3274G>T (p.Val1092Leu)
c.3091G>T (p.Val1031Leu)
n.5627G>T
c.1869+1405G>T (n.1869+1405G>T)
c.3259G>T (p.Val1087Leu)
c.3271G>T (p.Val1091Leu)
c.3244G>T (p.Val1082Leu)
c.3190G>T (p.Val1064Leu)
c.2590G>T (p.Val864Leu)
c.3538G>T (p.Val1180Leu)
c.3535G>T (p.Val1179Leu)
c.3454G>T (p.Val1152Leu)
c.3385G>T (p.Val1129Leu)
c.3253G>T (p.Val1085Leu)
c.3121G>T (p.Val1041Leu)
 gnomAD v4
20g.32435987T>ACA408562719ASXL1c.3275T>A (p.Val1092Glu)
c.3092T>A (p.Val1031Glu)
n.5628T>A
c.1869+1406T>A (n.1869+1406T>A)
c.3260T>A (p.Val1087Glu)
c.3272T>A (p.Val1091Glu)
c.3245T>A (p.Val1082Glu)
c.3191T>A (p.Val1064Glu)
c.2591T>A (p.Val864Glu)
c.3539T>A (p.Val1180Glu)
c.3536T>A (p.Val1179Glu)
c.3455T>A (p.Val1152Glu)
c.3386T>A (p.Val1129Glu)
c.3254T>A (p.Val1085Glu)
c.3122T>A (p.Val1041Glu)
20g.32435987T>CCA408562720ASXL1c.3275T>C (p.Val1092Ala)
c.3092T>C (p.Val1031Ala)
n.5628T>C
c.1869+1406T>C (n.1869+1406T>C)
c.3260T>C (p.Val1087Ala)
c.3272T>C (p.Val1091Ala)
c.3245T>C (p.Val1082Ala)
c.3191T>C (p.Val1064Ala)
c.2591T>C (p.Val864Ala)
c.3539T>C (p.Val1180Ala)
c.3536T>C (p.Val1179Ala)
c.3455T>C (p.Val1152Ala)
c.3386T>C (p.Val1129Ala)
c.3254T>C (p.Val1085Ala)
c.3122T>C (p.Val1041Ala)
20g.32435987T>GCA408562721ASXL1c.3275T>G (p.Val1092Gly)
c.3092T>G (p.Val1031Gly)
n.5628T>G
c.1869+1406T>G (n.1869+1406T>G)
c.3260T>G (p.Val1087Gly)
c.3272T>G (p.Val1091Gly)
c.3245T>G (p.Val1082Gly)
c.3191T>G (p.Val1064Gly)
c.2591T>G (p.Val864Gly)
c.3539T>G (p.Val1180Gly)
c.3536T>G (p.Val1179Gly)
c.3455T>G (p.Val1152Gly)
c.3386T>G (p.Val1129Gly)
c.3254T>G (p.Val1085Gly)
c.3122T>G (p.Val1041Gly)
20g.32435988G>ACA510467210ASXL1c.3276G>A (p.Val1092=)
c.3093G>A (p.Val1031=)
n.5629G>A
c.1869+1407G>A (n.1869+1407G>A)
c.3261G>A (p.Val1087=)
c.3273G>A (p.Val1091=)
c.3246G>A (p.Val1082=)
c.3192G>A (p.Val1064=)
c.2592G>A (p.Val864=)
c.3540G>A (p.Val1180=)
c.3537G>A (p.Val1179=)
c.3456G>A (p.Val1152=)
c.3387G>A (p.Val1129=)
c.3255G>A (p.Val1085=)
c.3123G>A (p.Val1041=)
20g.32435988G>CCA510467209ASXL1c.3276G>C (p.Val1092=)
c.3093G>C (p.Val1031=)
n.5629G>C
c.1869+1407G>C (n.1869+1407G>C)
c.3261G>C (p.Val1087=)
c.3273G>C (p.Val1091=)
c.3246G>C (p.Val1082=)
c.3192G>C (p.Val1064=)
c.2592G>C (p.Val864=)
c.3540G>C (p.Val1180=)
c.3537G>C (p.Val1179=)
c.3456G>C (p.Val1152=)
c.3387G>C (p.Val1129=)
c.3255G>C (p.Val1085=)
c.3123G>C (p.Val1041=)
20g.32435988G>TCA510467208ASXL1c.3276G>T (p.Val1092=)
c.3093G>T (p.Val1031=)
n.5629G>T
c.1869+1407G>T (n.1869+1407G>T)
c.3261G>T (p.Val1087=)
c.3273G>T (p.Val1091=)
c.3246G>T (p.Val1082=)
c.3192G>T (p.Val1064=)
c.2592G>T (p.Val864=)
c.3540G>T (p.Val1180=)
c.3537G>T (p.Val1179=)
c.3456G>T (p.Val1152=)
c.3387G>T (p.Val1129=)
c.3255G>T (p.Val1085=)
c.3123G>T (p.Val1041=)

Number of alleles fetched