Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436020_32436025delCA2652401180ASXL1c.3308_3313del (p.Ala1103_Asn1105delinsAsp)
c.3125_3130del (p.Ala1042_Asn1044delinsAsp)
n.5661_5666del
c.1869+1439_1869+1444del (n.1869+1439_1869+1444del)
c.3293_3298del (p.Ala1098_Asn1100delinsAsp)
c.3305_3310del (p.Ala1102_Asn1104delinsAsp)
c.3278_3283del (p.Ala1093_Asn1095delinsAsp)
c.3224_3229del (p.Ala1075_Asn1077delinsAsp)
c.2624_2629del (p.Ala875_Asn877delinsAsp)
c.3572_3577del (p.Ala1191_Asn1193delinsAsp)
c.3569_3574del (p.Ala1190_Asn1192delinsAsp)
c.3488_3493del (p.Ala1163_Asn1165delinsAsp)
c.3419_3424del (p.Ala1140_Asn1142delinsAsp)
c.3287_3292del (p.Ala1096_Asn1098delinsAsp)
c.3155_3160del (p.Ala1052_Asn1054delinsAsp)
 gnomAD v4
20g.32436024_32436027dupCA2695202555ASXL1c.3312_3315dup (p.Pro1106Ter)
c.3129_3132dup (p.Pro1045Ter)
n.5665_5668dup
c.1869+1443_1869+1446dup (n.1869+1443_1869+1446dup)
c.3297_3300dup (p.Pro1101Ter)
c.3309_3312dup (p.Pro1105Ter)
c.3282_3285dup (p.Pro1096Ter)
c.3228_3231dup (p.Pro1078Ter)
c.2628_2631dup (p.Pro878Ter)
c.3576_3579dup (p.Pro1194Ter)
c.3573_3576dup (p.Pro1193Ter)
c.3492_3495dup (p.Pro1166Ter)
c.3423_3426dup (p.Pro1143Ter)
c.3291_3294dup (p.Pro1099Ter)
c.3159_3162dup (p.Pro1055Ter)
20g.32436025A=CA2360293498ASXL1c.3313A= (p.Asn1105=)
c.3130A= (p.Asn1044=)
n.5666A=
c.1869+1444A= (n.1869+1444A=)
c.3298A= (p.Asn1100=)
c.3310A= (p.Asn1104=)
c.3283A= (p.Asn1095=)
c.3229A= (p.Asn1077=)
c.2629A= (p.Asn877=)
c.3577A= (p.Asn1193=)
c.3574A= (p.Asn1192=)
c.3493A= (p.Asn1165=)
c.3424A= (p.Asn1142=)
c.3292A= (p.Asn1098=)
c.3160A= (p.Asn1054=)
20g.32436025A>CCA408562795ASXL1c.3313A>C (p.Asn1105His)
c.3130A>C (p.Asn1044His)
n.5666A>C
c.1869+1444A>C (n.1869+1444A>C)
c.3298A>C (p.Asn1100His)
c.3310A>C (p.Asn1104His)
c.3283A>C (p.Asn1095His)
c.3229A>C (p.Asn1077His)
c.2629A>C (p.Asn877His)
c.3577A>C (p.Asn1193His)
c.3574A>C (p.Asn1192His)
c.3493A>C (p.Asn1165His)
c.3424A>C (p.Asn1142His)
c.3292A>C (p.Asn1098His)
c.3160A>C (p.Asn1054His)
20g.32436025A>GCA408562796ASXL1c.3313A>G (p.Asn1105Asp)
c.3130A>G (p.Asn1044Asp)
n.5666A>G
c.1869+1444A>G (n.1869+1444A>G)
c.3298A>G (p.Asn1100Asp)
c.3310A>G (p.Asn1104Asp)
c.3283A>G (p.Asn1095Asp)
c.3229A>G (p.Asn1077Asp)
c.2629A>G (p.Asn877Asp)
c.3577A>G (p.Asn1193Asp)
c.3574A>G (p.Asn1192Asp)
c.3493A>G (p.Asn1165Asp)
c.3424A>G (p.Asn1142Asp)
c.3292A>G (p.Asn1098Asp)
c.3160A>G (p.Asn1054Asp)
20g.32436025A>TCA9808791ASXL1c.3313A>T (p.Asn1105Tyr)
c.3130A>T (p.Asn1044Tyr)
n.5666A>T
c.1869+1444A>T (n.1869+1444A>T)
c.3298A>T (p.Asn1100Tyr)
c.3310A>T (p.Asn1104Tyr)
c.3283A>T (p.Asn1095Tyr)
c.3229A>T (p.Asn1077Tyr)
c.2629A>T (p.Asn877Tyr)
c.3577A>T (p.Asn1193Tyr)
c.3574A>T (p.Asn1192Tyr)
c.3493A>T (p.Asn1165Tyr)
c.3424A>T (p.Asn1142Tyr)
c.3292A>T (p.Asn1098Tyr)
c.3160A>T (p.Asn1054Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436026A>CCA408562797ASXL1c.3314A>C (p.Asn1105Thr)
c.3131A>C (p.Asn1044Thr)
n.5667A>C
c.1869+1445A>C (n.1869+1445A>C)
c.3299A>C (p.Asn1100Thr)
c.3311A>C (p.Asn1104Thr)
c.3284A>C (p.Asn1095Thr)
c.3230A>C (p.Asn1077Thr)
c.2630A>C (p.Asn877Thr)
c.3578A>C (p.Asn1193Thr)
c.3575A>C (p.Asn1192Thr)
c.3494A>C (p.Asn1165Thr)
c.3425A>C (p.Asn1142Thr)
c.3293A>C (p.Asn1098Thr)
c.3161A>C (p.Asn1054Thr)
20g.32436026A>GCA408562798ASXL1c.3314A>G (p.Asn1105Ser)
c.3131A>G (p.Asn1044Ser)
n.5667A>G
c.1869+1445A>G (n.1869+1445A>G)
c.3299A>G (p.Asn1100Ser)
c.3311A>G (p.Asn1104Ser)
c.3284A>G (p.Asn1095Ser)
c.3230A>G (p.Asn1077Ser)
c.2630A>G (p.Asn877Ser)
c.3578A>G (p.Asn1193Ser)
c.3575A>G (p.Asn1192Ser)
c.3494A>G (p.Asn1165Ser)
c.3425A>G (p.Asn1142Ser)
c.3293A>G (p.Asn1098Ser)
c.3161A>G (p.Asn1054Ser)
20g.32436026A>TCA408562799ASXL1c.3314A>T (p.Asn1105Ile)
c.3131A>T (p.Asn1044Ile)
n.5667A>T
c.1869+1445A>T (n.1869+1445A>T)
c.3299A>T (p.Asn1100Ile)
c.3311A>T (p.Asn1104Ile)
c.3284A>T (p.Asn1095Ile)
c.3230A>T (p.Asn1077Ile)
c.2630A>T (p.Asn877Ile)
c.3578A>T (p.Asn1193Ile)
c.3575A>T (p.Asn1192Ile)
c.3494A>T (p.Asn1165Ile)
c.3425A>T (p.Asn1142Ile)
c.3293A>T (p.Asn1098Ile)
c.3161A>T (p.Asn1054Ile)
20g.32436027C>ACA408562801ASXL1c.3315C>A (p.Asn1105Lys)
c.3132C>A (p.Asn1044Lys)
n.5668C>A
c.1869+1446C>A (n.1869+1446C>A)
c.3300C>A (p.Asn1100Lys)
c.3312C>A (p.Asn1104Lys)
c.3285C>A (p.Asn1095Lys)
c.3231C>A (p.Asn1077Lys)
c.2631C>A (p.Asn877Lys)
c.3579C>A (p.Asn1193Lys)
c.3576C>A (p.Asn1192Lys)
c.3495C>A (p.Asn1165Lys)
c.3426C>A (p.Asn1142Lys)
c.3294C>A (p.Asn1098Lys)
c.3162C>A (p.Asn1054Lys)
20g.32436027C=CA2360293499ASXL1c.3315C= (p.Asn1105=)
c.3132C= (p.Asn1044=)
n.5668C=
c.1869+1446C= (n.1869+1446C=)
c.3300C= (p.Asn1100=)
c.3312C= (p.Asn1104=)
c.3285C= (p.Asn1095=)
c.3231C= (p.Asn1077=)
c.2631C= (p.Asn877=)
c.3579C= (p.Asn1193=)
c.3576C= (p.Asn1192=)
c.3495C= (p.Asn1165=)
c.3426C= (p.Asn1142=)
c.3294C= (p.Asn1098=)
c.3162C= (p.Asn1054=)
20g.32436027C>GCA408562800ASXL1c.3315C>G (p.Asn1105Lys)
c.3132C>G (p.Asn1044Lys)
n.5668C>G
c.1869+1446C>G (n.1869+1446C>G)
c.3300C>G (p.Asn1100Lys)
c.3312C>G (p.Asn1104Lys)
c.3285C>G (p.Asn1095Lys)
c.3231C>G (p.Asn1077Lys)
c.2631C>G (p.Asn877Lys)
c.3579C>G (p.Asn1193Lys)
c.3576C>G (p.Asn1192Lys)
c.3495C>G (p.Asn1165Lys)
c.3426C>G (p.Asn1142Lys)
c.3294C>G (p.Asn1098Lys)
c.3162C>G (p.Asn1054Lys)
20g.32436027C>TCA9808792ASXL1c.3315C>T (p.Asn1105=)
c.3132C>T (p.Asn1044=)
n.5668C>T
c.1869+1446C>T (n.1869+1446C>T)
c.3300C>T (p.Asn1100=)
c.3312C>T (p.Asn1104=)
c.3285C>T (p.Asn1095=)
c.3231C>T (p.Asn1077=)
c.2631C>T (p.Asn877=)
c.3579C>T (p.Asn1193=)
c.3576C>T (p.Asn1192=)
c.3495C>T (p.Asn1165=)
c.3426C>T (p.Asn1142=)
c.3294C>T (p.Asn1098=)
c.3162C>T (p.Asn1054=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436028C>ACA408562802ASXL1c.3316C>A (p.Pro1106Thr)
c.3133C>A (p.Pro1045Thr)
n.5669C>A
c.1869+1447C>A (n.1869+1447C>A)
c.3301C>A (p.Pro1101Thr)
c.3313C>A (p.Pro1105Thr)
c.3286C>A (p.Pro1096Thr)
c.3232C>A (p.Pro1078Thr)
c.2632C>A (p.Pro878Thr)
c.3580C>A (p.Pro1194Thr)
c.3577C>A (p.Pro1193Thr)
c.3496C>A (p.Pro1166Thr)
c.3427C>A (p.Pro1143Thr)
c.3295C>A (p.Pro1099Thr)
c.3163C>A (p.Pro1055Thr)
 dbSNP
20g.32436028C>GCA408562803ASXL1c.3316C>G (p.Pro1106Ala)
c.3133C>G (p.Pro1045Ala)
n.5669C>G
c.1869+1447C>G (n.1869+1447C>G)
c.3301C>G (p.Pro1101Ala)
c.3313C>G (p.Pro1105Ala)
c.3286C>G (p.Pro1096Ala)
c.3232C>G (p.Pro1078Ala)
c.2632C>G (p.Pro878Ala)
c.3580C>G (p.Pro1194Ala)
c.3577C>G (p.Pro1193Ala)
c.3496C>G (p.Pro1166Ala)
c.3427C>G (p.Pro1143Ala)
c.3295C>G (p.Pro1099Ala)
c.3163C>G (p.Pro1055Ala)
 dbSNP gnomAD v4
20g.32436028C>TCA408562804ASXL1c.3316C>T (p.Pro1106Ser)
c.3133C>T (p.Pro1045Ser)
n.5669C>T
c.1869+1447C>T (n.1869+1447C>T)
c.3301C>T (p.Pro1101Ser)
c.3313C>T (p.Pro1105Ser)
c.3286C>T (p.Pro1096Ser)
c.3232C>T (p.Pro1078Ser)
c.2632C>T (p.Pro878Ser)
c.3580C>T (p.Pro1194Ser)
c.3577C>T (p.Pro1193Ser)
c.3496C>T (p.Pro1166Ser)
c.3427C>T (p.Pro1143Ser)
c.3295C>T (p.Pro1099Ser)
c.3163C>T (p.Pro1055Ser)
20g.32436029C>ACA408562805ASXL1c.3317C>A (p.Pro1106Gln)
c.3134C>A (p.Pro1045Gln)
n.5670C>A
c.1869+1448C>A (n.1869+1448C>A)
c.3302C>A (p.Pro1101Gln)
c.3314C>A (p.Pro1105Gln)
c.3287C>A (p.Pro1096Gln)
c.3233C>A (p.Pro1078Gln)
c.2633C>A (p.Pro878Gln)
c.3581C>A (p.Pro1194Gln)
c.3578C>A (p.Pro1193Gln)
c.3497C>A (p.Pro1166Gln)
c.3428C>A (p.Pro1143Gln)
c.3296C>A (p.Pro1099Gln)
c.3164C>A (p.Pro1055Gln)
 dbSNP
20g.32436029C>GCA408562806ASXL1c.3317C>G (p.Pro1106Arg)
c.3134C>G (p.Pro1045Arg)
n.5670C>G
c.1869+1448C>G (n.1869+1448C>G)
c.3302C>G (p.Pro1101Arg)
c.3314C>G (p.Pro1105Arg)
c.3287C>G (p.Pro1096Arg)
c.3233C>G (p.Pro1078Arg)
c.2633C>G (p.Pro878Arg)
c.3581C>G (p.Pro1194Arg)
c.3578C>G (p.Pro1193Arg)
c.3497C>G (p.Pro1166Arg)
c.3428C>G (p.Pro1143Arg)
c.3296C>G (p.Pro1099Arg)
c.3164C>G (p.Pro1055Arg)
20g.32436029C>TCA408562807ASXL1c.3317C>T (p.Pro1106Leu)
c.3134C>T (p.Pro1045Leu)
n.5670C>T
c.1869+1448C>T (n.1869+1448C>T)
c.3302C>T (p.Pro1101Leu)
c.3314C>T (p.Pro1105Leu)
c.3287C>T (p.Pro1096Leu)
c.3233C>T (p.Pro1078Leu)
c.2633C>T (p.Pro878Leu)
c.3581C>T (p.Pro1194Leu)
c.3578C>T (p.Pro1193Leu)
c.3497C>T (p.Pro1166Leu)
c.3428C>T (p.Pro1143Leu)
c.3296C>T (p.Pro1099Leu)
c.3164C>T (p.Pro1055Leu)
20g.32436030A>CCA510467028ASXL1c.3318A>C (p.Pro1106=)
c.3135A>C (p.Pro1045=)
n.5671A>C
c.1869+1449A>C (n.1869+1449A>C)
c.3303A>C (p.Pro1101=)
c.3315A>C (p.Pro1105=)
c.3288A>C (p.Pro1096=)
c.3234A>C (p.Pro1078=)
c.2634A>C (p.Pro878=)
c.3582A>C (p.Pro1194=)
c.3579A>C (p.Pro1193=)
c.3498A>C (p.Pro1166=)
c.3429A>C (p.Pro1143=)
c.3297A>C (p.Pro1099=)
c.3165A>C (p.Pro1055=)
20g.32436030A>GCA510467029ASXL1c.3318A>G (p.Pro1106=)
c.3135A>G (p.Pro1045=)
n.5671A>G
c.1869+1449A>G (n.1869+1449A>G)
c.3303A>G (p.Pro1101=)
c.3315A>G (p.Pro1105=)
c.3288A>G (p.Pro1096=)
c.3234A>G (p.Pro1078=)
c.2634A>G (p.Pro878=)
c.3582A>G (p.Pro1194=)
c.3579A>G (p.Pro1193=)
c.3498A>G (p.Pro1166=)
c.3429A>G (p.Pro1143=)
c.3297A>G (p.Pro1099=)
c.3165A>G (p.Pro1055=)
 gnomAD v4
20g.32436030A>TCA510467030ASXL1c.3318A>T (p.Pro1106=)
c.3135A>T (p.Pro1045=)
n.5671A>T
c.1869+1449A>T (n.1869+1449A>T)
c.3303A>T (p.Pro1101=)
c.3315A>T (p.Pro1105=)
c.3288A>T (p.Pro1096=)
c.3234A>T (p.Pro1078=)
c.2634A>T (p.Pro878=)
c.3582A>T (p.Pro1194=)
c.3579A>T (p.Pro1193=)
c.3498A>T (p.Pro1166=)
c.3429A>T (p.Pro1143=)
c.3297A>T (p.Pro1099=)
c.3165A>T (p.Pro1055=)
 dbSNP
20g.32436031C>ACA408562808ASXL1c.3319C>A (p.Leu1107Ile)
c.3136C>A (p.Leu1046Ile)
n.5672C>A
c.1869+1450C>A (n.1869+1450C>A)
c.3304C>A (p.Leu1102Ile)
c.3316C>A (p.Leu1106Ile)
c.3289C>A (p.Leu1097Ile)
c.3235C>A (p.Leu1079Ile)
c.2635C>A (p.Leu879Ile)
c.3583C>A (p.Leu1195Ile)
c.3580C>A (p.Leu1194Ile)
c.3499C>A (p.Leu1167Ile)
c.3430C>A (p.Leu1144Ile)
c.3298C>A (p.Leu1100Ile)
c.3166C>A (p.Leu1056Ile)
20g.32436031C>GCA408562809ASXL1c.3319C>G (p.Leu1107Val)
c.3136C>G (p.Leu1046Val)
n.5672C>G
c.1869+1450C>G (n.1869+1450C>G)
c.3304C>G (p.Leu1102Val)
c.3316C>G (p.Leu1106Val)
c.3289C>G (p.Leu1097Val)
c.3235C>G (p.Leu1079Val)
c.2635C>G (p.Leu879Val)
c.3583C>G (p.Leu1195Val)
c.3580C>G (p.Leu1194Val)
c.3499C>G (p.Leu1167Val)
c.3430C>G (p.Leu1144Val)
c.3298C>G (p.Leu1100Val)
c.3166C>G (p.Leu1056Val)
 gnomAD v4
20g.32436031C>TCA408562810ASXL1c.3319C>T (p.Leu1107Phe)
c.3136C>T (p.Leu1046Phe)
n.5672C>T
c.1869+1450C>T (n.1869+1450C>T)
c.3304C>T (p.Leu1102Phe)
c.3316C>T (p.Leu1106Phe)
c.3289C>T (p.Leu1097Phe)
c.3235C>T (p.Leu1079Phe)
c.2635C>T (p.Leu879Phe)
c.3583C>T (p.Leu1195Phe)
c.3580C>T (p.Leu1194Phe)
c.3499C>T (p.Leu1167Phe)
c.3430C>T (p.Leu1144Phe)
c.3298C>T (p.Leu1100Phe)
c.3166C>T (p.Leu1056Phe)
 gnomAD v4 COSMIC
20g.32436032T>ACA408562811ASXL1c.3320T>A (p.Leu1107His)
c.3137T>A (p.Leu1046His)
n.5673T>A
c.1869+1451T>A (n.1869+1451T>A)
c.3305T>A (p.Leu1102His)
c.3317T>A (p.Leu1106His)
c.3290T>A (p.Leu1097His)
c.3236T>A (p.Leu1079His)
c.2636T>A (p.Leu879His)
c.3584T>A (p.Leu1195His)
c.3581T>A (p.Leu1194His)
c.3500T>A (p.Leu1167His)
c.3431T>A (p.Leu1144His)
c.3299T>A (p.Leu1100His)
c.3167T>A (p.Leu1056His)
20g.32436032T>CCA408562812ASXL1c.3320T>C (p.Leu1107Pro)
c.3137T>C (p.Leu1046Pro)
n.5673T>C
c.1869+1451T>C (n.1869+1451T>C)
c.3305T>C (p.Leu1102Pro)
c.3317T>C (p.Leu1106Pro)
c.3290T>C (p.Leu1097Pro)
c.3236T>C (p.Leu1079Pro)
c.2636T>C (p.Leu879Pro)
c.3584T>C (p.Leu1195Pro)
c.3581T>C (p.Leu1194Pro)
c.3500T>C (p.Leu1167Pro)
c.3431T>C (p.Leu1144Pro)
c.3299T>C (p.Leu1100Pro)
c.3167T>C (p.Leu1056Pro)
20g.32436032T>GCA408562813ASXL1c.3320T>G (p.Leu1107Arg)
c.3137T>G (p.Leu1046Arg)
n.5673T>G
c.1869+1451T>G (n.1869+1451T>G)
c.3305T>G (p.Leu1102Arg)
c.3317T>G (p.Leu1106Arg)
c.3290T>G (p.Leu1097Arg)
c.3236T>G (p.Leu1079Arg)
c.2636T>G (p.Leu879Arg)
c.3584T>G (p.Leu1195Arg)
c.3581T>G (p.Leu1194Arg)
c.3500T>G (p.Leu1167Arg)
c.3431T>G (p.Leu1144Arg)
c.3299T>G (p.Leu1100Arg)
c.3167T>G (p.Leu1056Arg)
20g.32436033T>ACA510467041ASXL1c.3321T>A (p.Leu1107=)
c.3138T>A (p.Leu1046=)
n.5674T>A
c.1869+1452T>A (n.1869+1452T>A)
c.3306T>A (p.Leu1102=)
c.3318T>A (p.Leu1106=)
c.3291T>A (p.Leu1097=)
c.3237T>A (p.Leu1079=)
c.2637T>A (p.Leu879=)
c.3585T>A (p.Leu1195=)
c.3582T>A (p.Leu1194=)
c.3501T>A (p.Leu1167=)
c.3432T>A (p.Leu1144=)
c.3300T>A (p.Leu1100=)
c.3168T>A (p.Leu1056=)
20g.32436033T>CCA9808793ASXL1c.3321T>C (p.Leu1107=)
c.3138T>C (p.Leu1046=)
n.5674T>C
c.1869+1452T>C (n.1869+1452T>C)
c.3306T>C (p.Leu1102=)
c.3318T>C (p.Leu1106=)
c.3291T>C (p.Leu1097=)
c.3237T>C (p.Leu1079=)
c.2637T>C (p.Leu879=)
c.3585T>C (p.Leu1195=)
c.3582T>C (p.Leu1194=)
c.3501T>C (p.Leu1167=)
c.3432T>C (p.Leu1144=)
c.3300T>C (p.Leu1100=)
c.3168T>C (p.Leu1056=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436033T>GCA510467044ASXL1c.3321T>G (p.Leu1107=)
c.3138T>G (p.Leu1046=)
n.5674T>G
c.1869+1452T>G (n.1869+1452T>G)
c.3306T>G (p.Leu1102=)
c.3318T>G (p.Leu1106=)
c.3291T>G (p.Leu1097=)
c.3237T>G (p.Leu1079=)
c.2637T>G (p.Leu879=)
c.3585T>G (p.Leu1195=)
c.3582T>G (p.Leu1194=)
c.3501T>G (p.Leu1167=)
c.3432T>G (p.Leu1144=)
c.3300T>G (p.Leu1100=)
c.3168T>G (p.Leu1056=)
20g.32436033T=CA2360293500ASXL1c.3321T= (p.Leu1107=)
c.3138T= (p.Leu1046=)
n.5674T=
c.1869+1452T= (n.1869+1452T=)
c.3306T= (p.Leu1102=)
c.3318T= (p.Leu1106=)
c.3291T= (p.Leu1097=)
c.3237T= (p.Leu1079=)
c.2637T= (p.Leu879=)
c.3585T= (p.Leu1195=)
c.3582T= (p.Leu1194=)
c.3501T= (p.Leu1167=)
c.3432T= (p.Leu1144=)
c.3300T= (p.Leu1100=)
c.3168T= (p.Leu1056=)
20g.32436034G>ACA408562816ASXL1c.3322G>A (p.Val1108Met)
c.3139G>A (p.Val1047Met)
n.5675G>A
c.1869+1453G>A (n.1869+1453G>A)
c.3307G>A (p.Val1103Met)
c.3319G>A (p.Val1107Met)
c.3292G>A (p.Val1098Met)
c.3238G>A (p.Val1080Met)
c.2638G>A (p.Val880Met)
c.3586G>A (p.Val1196Met)
c.3583G>A (p.Val1195Met)
c.3502G>A (p.Val1168Met)
c.3433G>A (p.Val1145Met)
c.3301G>A (p.Val1101Met)
c.3169G>A (p.Val1057Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32436034G>CCA408562814ASXL1c.3322G>C (p.Val1108Leu)
c.3139G>C (p.Val1047Leu)
n.5675G>C
c.1869+1453G>C (n.1869+1453G>C)
c.3307G>C (p.Val1103Leu)
c.3319G>C (p.Val1107Leu)
c.3292G>C (p.Val1098Leu)
c.3238G>C (p.Val1080Leu)
c.2638G>C (p.Val880Leu)
c.3586G>C (p.Val1196Leu)
c.3583G>C (p.Val1195Leu)
c.3502G>C (p.Val1168Leu)
c.3433G>C (p.Val1145Leu)
c.3301G>C (p.Val1101Leu)
c.3169G>C (p.Val1057Leu)
 dbSNP gnomAD v4
20g.32436034G=CA2360293501ASXL1c.3322G= (p.Val1108=)
c.3139G= (p.Val1047=)
n.5675G=
c.1869+1453G= (n.1869+1453G=)
c.3307G= (p.Val1103=)
c.3319G= (p.Val1107=)
c.3292G= (p.Val1098=)
c.3238G= (p.Val1080=)
c.2638G= (p.Val880=)
c.3586G= (p.Val1196=)
c.3583G= (p.Val1195=)
c.3502G= (p.Val1168=)
c.3433G= (p.Val1145=)
c.3301G= (p.Val1101=)
c.3169G= (p.Val1057=)
20g.32436034G>TCA408562815ASXL1c.3322G>T (p.Val1108Leu)
c.3139G>T (p.Val1047Leu)
n.5675G>T
c.1869+1453G>T (n.1869+1453G>T)
c.3307G>T (p.Val1103Leu)
c.3319G>T (p.Val1107Leu)
c.3292G>T (p.Val1098Leu)
c.3238G>T (p.Val1080Leu)
c.2638G>T (p.Val880Leu)
c.3586G>T (p.Val1196Leu)
c.3583G>T (p.Val1195Leu)
c.3502G>T (p.Val1168Leu)
c.3433G>T (p.Val1145Leu)
c.3301G>T (p.Val1101Leu)
c.3169G>T (p.Val1057Leu)
20g.32436035T>ACA408562817ASXL1c.3323T>A (p.Val1108Glu)
c.3140T>A (p.Val1047Glu)
n.5676T>A
c.1869+1454T>A (n.1869+1454T>A)
c.3308T>A (p.Val1103Glu)
c.3320T>A (p.Val1107Glu)
c.3293T>A (p.Val1098Glu)
c.3239T>A (p.Val1080Glu)
c.2639T>A (p.Val880Glu)
c.3587T>A (p.Val1196Glu)
c.3584T>A (p.Val1195Glu)
c.3503T>A (p.Val1168Glu)
c.3434T>A (p.Val1145Glu)
c.3302T>A (p.Val1101Glu)
c.3170T>A (p.Val1057Glu)
20g.32436035T>CCA408562818ASXL1c.3323T>C (p.Val1108Ala)
c.3140T>C (p.Val1047Ala)
n.5676T>C
c.1869+1454T>C (n.1869+1454T>C)
c.3308T>C (p.Val1103Ala)
c.3320T>C (p.Val1107Ala)
c.3293T>C (p.Val1098Ala)
c.3239T>C (p.Val1080Ala)
c.2639T>C (p.Val880Ala)
c.3587T>C (p.Val1196Ala)
c.3584T>C (p.Val1195Ala)
c.3503T>C (p.Val1168Ala)
c.3434T>C (p.Val1145Ala)
c.3302T>C (p.Val1101Ala)
c.3170T>C (p.Val1057Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.32436035T>GCA408562819ASXL1c.3323T>G (p.Val1108Gly)
c.3140T>G (p.Val1047Gly)
n.5676T>G
c.1869+1454T>G (n.1869+1454T>G)
c.3308T>G (p.Val1103Gly)
c.3320T>G (p.Val1107Gly)
c.3293T>G (p.Val1098Gly)
c.3239T>G (p.Val1080Gly)
c.2639T>G (p.Val880Gly)
c.3587T>G (p.Val1196Gly)
c.3584T>G (p.Val1195Gly)
c.3503T>G (p.Val1168Gly)
c.3434T>G (p.Val1145Gly)
c.3302T>G (p.Val1101Gly)
c.3170T>G (p.Val1057Gly)
 ClinVar dbSNP
20g.32436035T=CA2360293502ASXL1c.3323T= (p.Val1108=)
c.3140T= (p.Val1047=)
n.5676T=
c.1869+1454T= (n.1869+1454T=)
c.3308T= (p.Val1103=)
c.3320T= (p.Val1107=)
c.3293T= (p.Val1098=)
c.3239T= (p.Val1080=)
c.2639T= (p.Val880=)
c.3587T= (p.Val1196=)
c.3584T= (p.Val1195=)
c.3503T= (p.Val1168=)
c.3434T= (p.Val1145=)
c.3302T= (p.Val1101=)
c.3170T= (p.Val1057=)
20g.32436036G>ACA510467049ASXL1c.3324G>A (p.Val1108=)
c.3141G>A (p.Val1047=)
n.5677G>A
c.1869+1455G>A (n.1869+1455G>A)
c.3309G>A (p.Val1103=)
c.3321G>A (p.Val1107=)
c.3294G>A (p.Val1098=)
c.3240G>A (p.Val1080=)
c.2640G>A (p.Val880=)
c.3588G>A (p.Val1196=)
c.3585G>A (p.Val1195=)
c.3504G>A (p.Val1168=)
c.3435G>A (p.Val1145=)
c.3303G>A (p.Val1101=)
c.3171G>A (p.Val1057=)
20g.32436036G>CCA510467051ASXL1c.3324G>C (p.Val1108=)
c.3141G>C (p.Val1047=)
n.5677G>C
c.1869+1455G>C (n.1869+1455G>C)
c.3309G>C (p.Val1103=)
c.3321G>C (p.Val1107=)
c.3294G>C (p.Val1098=)
c.3240G>C (p.Val1080=)
c.2640G>C (p.Val880=)
c.3588G>C (p.Val1196=)
c.3585G>C (p.Val1195=)
c.3504G>C (p.Val1168=)
c.3435G>C (p.Val1145=)
c.3303G>C (p.Val1101=)
c.3171G>C (p.Val1057=)
20g.32436036G>TCA510467052ASXL1c.3324G>T (p.Val1108=)
c.3141G>T (p.Val1047=)
n.5677G>T
c.1869+1455G>T (n.1869+1455G>T)
c.3309G>T (p.Val1103=)
c.3321G>T (p.Val1107=)
c.3294G>T (p.Val1098=)
c.3240G>T (p.Val1080=)
c.2640G>T (p.Val880=)
c.3588G>T (p.Val1196=)
c.3585G>T (p.Val1195=)
c.3504G>T (p.Val1168=)
c.3435G>T (p.Val1145=)
c.3303G>T (p.Val1101=)
c.3171G>T (p.Val1057=)
20g.32436037A=CA2360293503ASXL1c.3325A= (p.Met1109=)
c.3142A= (p.Met1048=)
n.5678A=
c.1869+1456A= (n.1869+1456A=)
c.3310A= (p.Met1104=)
c.3322A= (p.Met1108=)
c.3295A= (p.Met1099=)
c.3241A= (p.Met1081=)
c.2641A= (p.Met881=)
c.3589A= (p.Met1197=)
c.3586A= (p.Met1196=)
c.3505A= (p.Met1169=)
c.3436A= (p.Met1146=)
c.3304A= (p.Met1102=)
c.3172A= (p.Met1058=)
20g.32436037A>CCA408562820ASXL1c.3325A>C (p.Met1109Leu)
c.3142A>C (p.Met1048Leu)
n.5678A>C
c.1869+1456A>C (n.1869+1456A>C)
c.3310A>C (p.Met1104Leu)
c.3322A>C (p.Met1108Leu)
c.3295A>C (p.Met1099Leu)
c.3241A>C (p.Met1081Leu)
c.2641A>C (p.Met881Leu)
c.3589A>C (p.Met1197Leu)
c.3586A>C (p.Met1196Leu)
c.3505A>C (p.Met1169Leu)
c.3436A>C (p.Met1146Leu)
c.3304A>C (p.Met1102Leu)
c.3172A>C (p.Met1058Leu)
20g.32436037A>GCA408562821ASXL1c.3325A>G (p.Met1109Val)
c.3142A>G (p.Met1048Val)
n.5678A>G
c.1869+1456A>G (n.1869+1456A>G)
c.3310A>G (p.Met1104Val)
c.3322A>G (p.Met1108Val)
c.3295A>G (p.Met1099Val)
c.3241A>G (p.Met1081Val)
c.2641A>G (p.Met881Val)
c.3589A>G (p.Met1197Val)
c.3586A>G (p.Met1196Val)
c.3505A>G (p.Met1169Val)
c.3436A>G (p.Met1146Val)
c.3304A>G (p.Met1102Val)
c.3172A>G (p.Met1058Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32436037A>TCA408562822ASXL1c.3325A>T (p.Met1109Leu)
c.3142A>T (p.Met1048Leu)
n.5678A>T
c.1869+1456A>T (n.1869+1456A>T)
c.3310A>T (p.Met1104Leu)
c.3322A>T (p.Met1108Leu)
c.3295A>T (p.Met1099Leu)
c.3241A>T (p.Met1081Leu)
c.2641A>T (p.Met881Leu)
c.3589A>T (p.Met1197Leu)
c.3586A>T (p.Met1196Leu)
c.3505A>T (p.Met1169Leu)
c.3436A>T (p.Met1146Leu)
c.3304A>T (p.Met1102Leu)
c.3172A>T (p.Met1058Leu)
 gnomAD v4
20g.32436038T>ACA408562823ASXL1c.3326T>A (p.Met1109Lys)
c.3143T>A (p.Met1048Lys)
n.5679T>A
c.1869+1457T>A (n.1869+1457T>A)
c.3311T>A (p.Met1104Lys)
c.3323T>A (p.Met1108Lys)
c.3296T>A (p.Met1099Lys)
c.3242T>A (p.Met1081Lys)
c.2642T>A (p.Met881Lys)
c.3590T>A (p.Met1197Lys)
c.3587T>A (p.Met1196Lys)
c.3506T>A (p.Met1169Lys)
c.3437T>A (p.Met1146Lys)
c.3305T>A (p.Met1102Lys)
c.3173T>A (p.Met1058Lys)
20g.32436038T>CCA9808794ASXL1c.3326T>C (p.Met1109Thr)
c.3143T>C (p.Met1048Thr)
n.5679T>C
c.1869+1457T>C (n.1869+1457T>C)
c.3311T>C (p.Met1104Thr)
c.3323T>C (p.Met1108Thr)
c.3296T>C (p.Met1099Thr)
c.3242T>C (p.Met1081Thr)
c.2642T>C (p.Met881Thr)
c.3590T>C (p.Met1197Thr)
c.3587T>C (p.Met1196Thr)
c.3506T>C (p.Met1169Thr)
c.3437T>C (p.Met1146Thr)
c.3305T>C (p.Met1102Thr)
c.3173T>C (p.Met1058Thr)
 dbSNP ExAC gnomAD v4
20g.32436038T>GCA408562824ASXL1c.3326T>G (p.Met1109Arg)
c.3143T>G (p.Met1048Arg)
n.5679T>G
c.1869+1457T>G (n.1869+1457T>G)
c.3311T>G (p.Met1104Arg)
c.3323T>G (p.Met1108Arg)
c.3296T>G (p.Met1099Arg)
c.3242T>G (p.Met1081Arg)
c.2642T>G (p.Met881Arg)
c.3590T>G (p.Met1197Arg)
c.3587T>G (p.Met1196Arg)
c.3506T>G (p.Met1169Arg)
c.3437T>G (p.Met1146Arg)
c.3305T>G (p.Met1102Arg)
c.3173T>G (p.Met1058Arg)
20g.32436038T=CA2360293504ASXL1c.3326T= (p.Met1109=)
c.3143T= (p.Met1048=)
n.5679T=
c.1869+1457T= (n.1869+1457T=)
c.3311T= (p.Met1104=)
c.3323T= (p.Met1108=)
c.3296T= (p.Met1099=)
c.3242T= (p.Met1081=)
c.2642T= (p.Met881=)
c.3590T= (p.Met1197=)
c.3587T= (p.Met1196=)
c.3506T= (p.Met1169=)
c.3437T= (p.Met1146=)
c.3305T= (p.Met1102=)
c.3173T= (p.Met1058=)
20g.32436039G>ACA9808795ASXL1c.3327G>A (p.Met1109Ile)
c.3144G>A (p.Met1048Ile)
n.5680G>A
c.1869+1458G>A (n.1869+1458G>A)
c.3312G>A (p.Met1104Ile)
c.3324G>A (p.Met1108Ile)
c.3297G>A (p.Met1099Ile)
c.3243G>A (p.Met1081Ile)
c.2643G>A (p.Met881Ile)
c.3591G>A (p.Met1197Ile)
c.3588G>A (p.Met1196Ile)
c.3507G>A (p.Met1169Ile)
c.3438G>A (p.Met1146Ile)
c.3306G>A (p.Met1102Ile)
c.3174G>A (p.Met1058Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436039G>CCA408562825ASXL1c.3327G>C (p.Met1109Ile)
c.3144G>C (p.Met1048Ile)
n.5680G>C
c.1869+1458G>C (n.1869+1458G>C)
c.3312G>C (p.Met1104Ile)
c.3324G>C (p.Met1108Ile)
c.3297G>C (p.Met1099Ile)
c.3243G>C (p.Met1081Ile)
c.2643G>C (p.Met881Ile)
c.3591G>C (p.Met1197Ile)
c.3588G>C (p.Met1196Ile)
c.3507G>C (p.Met1169Ile)
c.3438G>C (p.Met1146Ile)
c.3306G>C (p.Met1102Ile)
c.3174G>C (p.Met1058Ile)
20g.32436039G=CA2360293505ASXL1c.3327G= (p.Met1109=)
c.3144G= (p.Met1048=)
n.5680G=
c.1869+1458G= (n.1869+1458G=)
c.3312G= (p.Met1104=)
c.3324G= (p.Met1108=)
c.3297G= (p.Met1099=)
c.3243G= (p.Met1081=)
c.2643G= (p.Met881=)
c.3591G= (p.Met1197=)
c.3588G= (p.Met1196=)
c.3507G= (p.Met1169=)
c.3438G= (p.Met1146=)
c.3306G= (p.Met1102=)
c.3174G= (p.Met1058=)
20g.32436039G>TCA408562826ASXL1c.3327G>T (p.Met1109Ile)
c.3144G>T (p.Met1048Ile)
n.5680G>T
c.1869+1458G>T (n.1869+1458G>T)
c.3312G>T (p.Met1104Ile)
c.3324G>T (p.Met1108Ile)
c.3297G>T (p.Met1099Ile)
c.3243G>T (p.Met1081Ile)
c.2643G>T (p.Met881Ile)
c.3591G>T (p.Met1197Ile)
c.3588G>T (p.Met1196Ile)
c.3507G>T (p.Met1169Ile)
c.3438G>T (p.Met1146Ile)
c.3306G>T (p.Met1102Ile)
c.3174G>T (p.Met1058Ile)
20g.32436040C>ACA408562828ASXL1c.3328C>A (p.Gln1110Lys)
c.3145C>A (p.Gln1049Lys)
n.5681C>A
c.1869+1459C>A (n.1869+1459C>A)
c.3313C>A (p.Gln1105Lys)
c.3325C>A (p.Gln1109Lys)
c.3298C>A (p.Gln1100Lys)
c.3244C>A (p.Gln1082Lys)
c.2644C>A (p.Gln882Lys)
c.3592C>A (p.Gln1198Lys)
c.3589C>A (p.Gln1197Lys)
c.3508C>A (p.Gln1170Lys)
c.3439C>A (p.Gln1147Lys)
c.3307C>A (p.Gln1103Lys)
c.3175C>A (p.Gln1059Lys)
20g.32436040C=CA2360293506ASXL1c.3328C= (p.Gln1110=)
c.3145C= (p.Gln1049=)
n.5681C=
c.1869+1459C= (n.1869+1459C=)
c.3313C= (p.Gln1105=)
c.3325C= (p.Gln1109=)
c.3298C= (p.Gln1100=)
c.3244C= (p.Gln1082=)
c.2644C= (p.Gln882=)
c.3592C= (p.Gln1198=)
c.3589C= (p.Gln1197=)
c.3508C= (p.Gln1170=)
c.3439C= (p.Gln1147=)
c.3307C= (p.Gln1103=)
c.3175C= (p.Gln1059=)
20g.32436040C>GCA9808796ASXL1c.3328C>G (p.Gln1110Glu)
c.3145C>G (p.Gln1049Glu)
n.5681C>G
c.1869+1459C>G (n.1869+1459C>G)
c.3313C>G (p.Gln1105Glu)
c.3325C>G (p.Gln1109Glu)
c.3298C>G (p.Gln1100Glu)
c.3244C>G (p.Gln1082Glu)
c.2644C>G (p.Gln882Glu)
c.3592C>G (p.Gln1198Glu)
c.3589C>G (p.Gln1197Glu)
c.3508C>G (p.Gln1170Glu)
c.3439C>G (p.Gln1147Glu)
c.3307C>G (p.Gln1103Glu)
c.3175C>G (p.Gln1059Glu)
 dbSNP ExAC
20g.32436040C>TCA408562827ASXL1c.3328C>T (p.Gln1110Ter)
c.3145C>T (p.Gln1049Ter)
n.5681C>T
c.1869+1459C>T (n.1869+1459C>T)
c.3313C>T (p.Gln1105Ter)
c.3325C>T (p.Gln1109Ter)
c.3298C>T (p.Gln1100Ter)
c.3244C>T (p.Gln1082Ter)
c.2644C>T (p.Gln882Ter)
c.3592C>T (p.Gln1198Ter)
c.3589C>T (p.Gln1197Ter)
c.3508C>T (p.Gln1170Ter)
c.3439C>T (p.Gln1147Ter)
c.3307C>T (p.Gln1103Ter)
c.3175C>T (p.Gln1059Ter)
 dbSNP
20g.32436041A=CA2360293507ASXL1c.3329A= (p.Gln1110=)
c.3146A= (p.Gln1049=)
n.5682A=
c.1869+1460A= (n.1869+1460A=)
c.3314A= (p.Gln1105=)
c.3326A= (p.Gln1109=)
c.3299A= (p.Gln1100=)
c.3245A= (p.Gln1082=)
c.2645A= (p.Gln882=)
c.3593A= (p.Gln1198=)
c.3590A= (p.Gln1197=)
c.3509A= (p.Gln1170=)
c.3440A= (p.Gln1147=)
c.3308A= (p.Gln1103=)
c.3176A= (p.Gln1059=)
20g.32436041A>CCA408562830ASXL1c.3329A>C (p.Gln1110Pro)
c.3146A>C (p.Gln1049Pro)
n.5682A>C
c.1869+1460A>C (n.1869+1460A>C)
c.3314A>C (p.Gln1105Pro)
c.3326A>C (p.Gln1109Pro)
c.3299A>C (p.Gln1100Pro)
c.3245A>C (p.Gln1082Pro)
c.2645A>C (p.Gln882Pro)
c.3593A>C (p.Gln1198Pro)
c.3590A>C (p.Gln1197Pro)
c.3509A>C (p.Gln1170Pro)
c.3440A>C (p.Gln1147Pro)
c.3308A>C (p.Gln1103Pro)
c.3176A>C (p.Gln1059Pro)
20g.32436041A>GCA408562829ASXL1c.3329A>G (p.Gln1110Arg)
c.3146A>G (p.Gln1049Arg)
n.5682A>G
c.1869+1460A>G (n.1869+1460A>G)
c.3314A>G (p.Gln1105Arg)
c.3326A>G (p.Gln1109Arg)
c.3299A>G (p.Gln1100Arg)
c.3245A>G (p.Gln1082Arg)
c.2645A>G (p.Gln882Arg)
c.3593A>G (p.Gln1198Arg)
c.3590A>G (p.Gln1197Arg)
c.3509A>G (p.Gln1170Arg)
c.3440A>G (p.Gln1147Arg)
c.3308A>G (p.Gln1103Arg)
c.3176A>G (p.Gln1059Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.32436041A>TCA408562831ASXL1c.3329A>T (p.Gln1110Leu)
c.3146A>T (p.Gln1049Leu)
n.5682A>T
c.1869+1460A>T (n.1869+1460A>T)
c.3314A>T (p.Gln1105Leu)
c.3326A>T (p.Gln1109Leu)
c.3299A>T (p.Gln1100Leu)
c.3245A>T (p.Gln1082Leu)
c.2645A>T (p.Gln882Leu)
c.3593A>T (p.Gln1198Leu)
c.3590A>T (p.Gln1197Leu)
c.3509A>T (p.Gln1170Leu)
c.3440A>T (p.Gln1147Leu)
c.3308A>T (p.Gln1103Leu)
c.3176A>T (p.Gln1059Leu)
20g.32436042G>ACA510467063ASXL1c.3330G>A (p.Gln1110=)
c.3147G>A (p.Gln1049=)
n.5683G>A
c.1869+1461G>A (n.1869+1461G>A)
c.3315G>A (p.Gln1105=)
c.3327G>A (p.Gln1109=)
c.3300G>A (p.Gln1100=)
c.3246G>A (p.Gln1082=)
c.2646G>A (p.Gln882=)
c.3594G>A (p.Gln1198=)
c.3591G>A (p.Gln1197=)
c.3510G>A (p.Gln1170=)
c.3441G>A (p.Gln1147=)
c.3309G>A (p.Gln1103=)
c.3177G>A (p.Gln1059=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436042G>CCA408562832ASXL1c.3330G>C (p.Gln1110His)
c.3147G>C (p.Gln1049His)
n.5683G>C
c.1869+1461G>C (n.1869+1461G>C)
c.3315G>C (p.Gln1105His)
c.3327G>C (p.Gln1109His)
c.3300G>C (p.Gln1100His)
c.3246G>C (p.Gln1082His)
c.2646G>C (p.Gln882His)
c.3594G>C (p.Gln1198His)
c.3591G>C (p.Gln1197His)
c.3510G>C (p.Gln1170His)
c.3441G>C (p.Gln1147His)
c.3309G>C (p.Gln1103His)
c.3177G>C (p.Gln1059His)
20g.32436042G=CA2360293508ASXL1c.3330G= (p.Gln1110=)
c.3147G= (p.Gln1049=)
n.5683G=
c.1869+1461G= (n.1869+1461G=)
c.3315G= (p.Gln1105=)
c.3327G= (p.Gln1109=)
c.3300G= (p.Gln1100=)
c.3246G= (p.Gln1082=)
c.2646G= (p.Gln882=)
c.3594G= (p.Gln1198=)
c.3591G= (p.Gln1197=)
c.3510G= (p.Gln1170=)
c.3441G= (p.Gln1147=)
c.3309G= (p.Gln1103=)
c.3177G= (p.Gln1059=)
20g.32436042G>TCA408562833ASXL1c.3330G>T (p.Gln1110His)
c.3147G>T (p.Gln1049His)
n.5683G>T
c.1869+1461G>T (n.1869+1461G>T)
c.3315G>T (p.Gln1105His)
c.3327G>T (p.Gln1109His)
c.3300G>T (p.Gln1100His)
c.3246G>T (p.Gln1082His)
c.2646G>T (p.Gln882His)
c.3594G>T (p.Gln1198His)
c.3591G>T (p.Gln1197His)
c.3510G>T (p.Gln1170His)
c.3441G>T (p.Gln1147His)
c.3309G>T (p.Gln1103His)
c.3177G>T (p.Gln1059His)
20g.32436043T>ACA408562834ASXL1c.3331T>A (p.Leu1111Met)
c.3148T>A (p.Leu1050Met)
n.5684T>A
c.1869+1462T>A (n.1869+1462T>A)
c.3316T>A (p.Leu1106Met)
c.3328T>A (p.Leu1110Met)
c.3301T>A (p.Leu1101Met)
c.3247T>A (p.Leu1083Met)
c.2647T>A (p.Leu883Met)
c.3595T>A (p.Leu1199Met)
c.3592T>A (p.Leu1198Met)
c.3511T>A (p.Leu1171Met)
c.3442T>A (p.Leu1148Met)
c.3310T>A (p.Leu1104Met)
c.3178T>A (p.Leu1060Met)
20g.32436043T>CCA510467064ASXL1c.3331T>C (p.Leu1111=)
c.3148T>C (p.Leu1050=)
n.5684T>C
c.1869+1462T>C (n.1869+1462T>C)
c.3316T>C (p.Leu1106=)
c.3328T>C (p.Leu1110=)
c.3301T>C (p.Leu1101=)
c.3247T>C (p.Leu1083=)
c.2647T>C (p.Leu883=)
c.3595T>C (p.Leu1199=)
c.3592T>C (p.Leu1198=)
c.3511T>C (p.Leu1171=)
c.3442T>C (p.Leu1148=)
c.3310T>C (p.Leu1104=)
c.3178T>C (p.Leu1060=)
20g.32436043T>GCA408562835ASXL1c.3331T>G (p.Leu1111Val)
c.3148T>G (p.Leu1050Val)
n.5684T>G
c.1869+1462T>G (n.1869+1462T>G)
c.3316T>G (p.Leu1106Val)
c.3328T>G (p.Leu1110Val)
c.3301T>G (p.Leu1101Val)
c.3247T>G (p.Leu1083Val)
c.2647T>G (p.Leu883Val)
c.3595T>G (p.Leu1199Val)
c.3592T>G (p.Leu1198Val)
c.3511T>G (p.Leu1171Val)
c.3442T>G (p.Leu1148Val)
c.3310T>G (p.Leu1104Val)
c.3178T>G (p.Leu1060Val)
20g.32436044T>ACA408562836ASXL1c.3332T>A (p.Leu1111Ter)
c.3149T>A (p.Leu1050Ter)
n.5685T>A
c.1869+1463T>A (n.1869+1463T>A)
c.3317T>A (p.Leu1106Ter)
c.3329T>A (p.Leu1110Ter)
c.3302T>A (p.Leu1101Ter)
c.3248T>A (p.Leu1083Ter)
c.2648T>A (p.Leu883Ter)
c.3596T>A (p.Leu1199Ter)
c.3593T>A (p.Leu1198Ter)
c.3512T>A (p.Leu1171Ter)
c.3443T>A (p.Leu1148Ter)
c.3311T>A (p.Leu1104Ter)
c.3179T>A (p.Leu1060Ter)
20g.32436044T>CCA408562838ASXL1c.3332T>C (p.Leu1111Ser)
c.3149T>C (p.Leu1050Ser)
n.5685T>C
c.1869+1463T>C (n.1869+1463T>C)
c.3317T>C (p.Leu1106Ser)
c.3329T>C (p.Leu1110Ser)
c.3302T>C (p.Leu1101Ser)
c.3248T>C (p.Leu1083Ser)
c.2648T>C (p.Leu883Ser)
c.3596T>C (p.Leu1199Ser)
c.3593T>C (p.Leu1198Ser)
c.3512T>C (p.Leu1171Ser)
c.3443T>C (p.Leu1148Ser)
c.3311T>C (p.Leu1104Ser)
c.3179T>C (p.Leu1060Ser)
20g.32436044T>GCA408562837ASXL1c.3332T>G (p.Leu1111Trp)
c.3149T>G (p.Leu1050Trp)
n.5685T>G
c.1869+1463T>G (n.1869+1463T>G)
c.3317T>G (p.Leu1106Trp)
c.3329T>G (p.Leu1110Trp)
c.3302T>G (p.Leu1101Trp)
c.3248T>G (p.Leu1083Trp)
c.2648T>G (p.Leu883Trp)
c.3596T>G (p.Leu1199Trp)
c.3593T>G (p.Leu1198Trp)
c.3512T>G (p.Leu1171Trp)
c.3443T>G (p.Leu1148Trp)
c.3311T>G (p.Leu1104Trp)
c.3179T>G (p.Leu1060Trp)
20g.32436045G>ACA510467070ASXL1c.3333G>A (p.Leu1111=)
c.3150G>A (p.Leu1050=)
n.5686G>A
c.1869+1464G>A (n.1869+1464G>A)
c.3318G>A (p.Leu1106=)
c.3330G>A (p.Leu1110=)
c.3303G>A (p.Leu1101=)
c.3249G>A (p.Leu1083=)
c.2649G>A (p.Leu883=)
c.3597G>A (p.Leu1199=)
c.3594G>A (p.Leu1198=)
c.3513G>A (p.Leu1171=)
c.3444G>A (p.Leu1148=)
c.3312G>A (p.Leu1104=)
c.3180G>A (p.Leu1060=)
20g.32436045G>CCA408562839ASXL1c.3333G>C (p.Leu1111Phe)
c.3150G>C (p.Leu1050Phe)
n.5686G>C
c.1869+1464G>C (n.1869+1464G>C)
c.3318G>C (p.Leu1106Phe)
c.3330G>C (p.Leu1110Phe)
c.3303G>C (p.Leu1101Phe)
c.3249G>C (p.Leu1083Phe)
c.2649G>C (p.Leu883Phe)
c.3597G>C (p.Leu1199Phe)
c.3594G>C (p.Leu1198Phe)
c.3513G>C (p.Leu1171Phe)
c.3444G>C (p.Leu1148Phe)
c.3312G>C (p.Leu1104Phe)
c.3180G>C (p.Leu1060Phe)
20g.32436045G>TCA408562840ASXL1c.3333G>T (p.Leu1111Phe)
c.3150G>T (p.Leu1050Phe)
n.5686G>T
c.1869+1464G>T (n.1869+1464G>T)
c.3318G>T (p.Leu1106Phe)
c.3330G>T (p.Leu1110Phe)
c.3303G>T (p.Leu1101Phe)
c.3249G>T (p.Leu1083Phe)
c.2649G>T (p.Leu883Phe)
c.3597G>T (p.Leu1199Phe)
c.3594G>T (p.Leu1198Phe)
c.3513G>T (p.Leu1171Phe)
c.3444G>T (p.Leu1148Phe)
c.3312G>T (p.Leu1104Phe)
c.3180G>T (p.Leu1060Phe)
20g.32436046C>ACA9808797ASXL1c.3334C>A (p.Leu1112Met)
c.3151C>A (p.Leu1051Met)
n.5687C>A
c.1869+1465C>A (n.1869+1465C>A)
c.3319C>A (p.Leu1107Met)
c.3331C>A (p.Leu1111Met)
c.3304C>A (p.Leu1102Met)
c.3250C>A (p.Leu1084Met)
c.2650C>A (p.Leu884Met)
c.3598C>A (p.Leu1200Met)
c.3595C>A (p.Leu1199Met)
c.3514C>A (p.Leu1172Met)
c.3445C>A (p.Leu1149Met)
c.3313C>A (p.Leu1105Met)
c.3181C>A (p.Leu1061Met)
 dbSNP ExAC gnomAD v2
20g.32436046C=CA2360293509ASXL1c.3334C= (p.Leu1112=)
c.3151C= (p.Leu1051=)
n.5687C=
c.1869+1465C= (n.1869+1465C=)
c.3319C= (p.Leu1107=)
c.3331C= (p.Leu1111=)
c.3304C= (p.Leu1102=)
c.3250C= (p.Leu1084=)
c.2650C= (p.Leu884=)
c.3598C= (p.Leu1200=)
c.3595C= (p.Leu1199=)
c.3514C= (p.Leu1172=)
c.3445C= (p.Leu1149=)
c.3313C= (p.Leu1105=)
c.3181C= (p.Leu1061=)
20g.32436046C>GCA408562841ASXL1c.3334C>G (p.Leu1112Val)
c.3151C>G (p.Leu1051Val)
n.5687C>G
c.1869+1465C>G (n.1869+1465C>G)
c.3319C>G (p.Leu1107Val)
c.3331C>G (p.Leu1111Val)
c.3304C>G (p.Leu1102Val)
c.3250C>G (p.Leu1084Val)
c.2650C>G (p.Leu884Val)
c.3598C>G (p.Leu1200Val)
c.3595C>G (p.Leu1199Val)
c.3514C>G (p.Leu1172Val)
c.3445C>G (p.Leu1149Val)
c.3313C>G (p.Leu1105Val)
c.3181C>G (p.Leu1061Val)
20g.32436046C>TCA510467075ASXL1c.3334C>T (p.Leu1112=)
c.3151C>T (p.Leu1051=)
n.5687C>T
c.1869+1465C>T (n.1869+1465C>T)
c.3319C>T (p.Leu1107=)
c.3331C>T (p.Leu1111=)
c.3304C>T (p.Leu1102=)
c.3250C>T (p.Leu1084=)
c.2650C>T (p.Leu884=)
c.3598C>T (p.Leu1200=)
c.3595C>T (p.Leu1199=)
c.3514C>T (p.Leu1172=)
c.3445C>T (p.Leu1149=)
c.3313C>T (p.Leu1105=)
c.3181C>T (p.Leu1061=)
20g.32436047T>ACA408562842ASXL1c.3335T>A (p.Leu1112Gln)
c.3152T>A (p.Leu1051Gln)
n.5688T>A
c.1869+1466T>A (n.1869+1466T>A)
c.3320T>A (p.Leu1107Gln)
c.3332T>A (p.Leu1111Gln)
c.3305T>A (p.Leu1102Gln)
c.3251T>A (p.Leu1084Gln)
c.2651T>A (p.Leu884Gln)
c.3599T>A (p.Leu1200Gln)
c.3596T>A (p.Leu1199Gln)
c.3515T>A (p.Leu1172Gln)
c.3446T>A (p.Leu1149Gln)
c.3314T>A (p.Leu1105Gln)
c.3182T>A (p.Leu1061Gln)
20g.32436047T>CCA408562843ASXL1c.3335T>C (p.Leu1112Pro)
c.3152T>C (p.Leu1051Pro)
n.5688T>C
c.1869+1466T>C (n.1869+1466T>C)
c.3320T>C (p.Leu1107Pro)
c.3332T>C (p.Leu1111Pro)
c.3305T>C (p.Leu1102Pro)
c.3251T>C (p.Leu1084Pro)
c.2651T>C (p.Leu884Pro)
c.3599T>C (p.Leu1200Pro)
c.3596T>C (p.Leu1199Pro)
c.3515T>C (p.Leu1172Pro)
c.3446T>C (p.Leu1149Pro)
c.3314T>C (p.Leu1105Pro)
c.3182T>C (p.Leu1061Pro)
20g.32436047T>GCA408562844ASXL1c.3335T>G (p.Leu1112Arg)
c.3152T>G (p.Leu1051Arg)
n.5688T>G
c.1869+1466T>G (n.1869+1466T>G)
c.3320T>G (p.Leu1107Arg)
c.3332T>G (p.Leu1111Arg)
c.3305T>G (p.Leu1102Arg)
c.3251T>G (p.Leu1084Arg)
c.2651T>G (p.Leu884Arg)
c.3599T>G (p.Leu1200Arg)
c.3596T>G (p.Leu1199Arg)
c.3515T>G (p.Leu1172Arg)
c.3446T>G (p.Leu1149Arg)
c.3314T>G (p.Leu1105Arg)
c.3182T>G (p.Leu1061Arg)
20g.32436048G>ACA510467080ASXL1c.3336G>A (p.Leu1112=)
c.3153G>A (p.Leu1051=)
n.5689G>A
c.1869+1467G>A (n.1869+1467G>A)
c.3321G>A (p.Leu1107=)
c.3333G>A (p.Leu1111=)
c.3306G>A (p.Leu1102=)
c.3252G>A (p.Leu1084=)
c.2652G>A (p.Leu884=)
c.3600G>A (p.Leu1200=)
c.3597G>A (p.Leu1199=)
c.3516G>A (p.Leu1172=)
c.3447G>A (p.Leu1149=)
c.3315G>A (p.Leu1105=)
c.3183G>A (p.Leu1061=)
 ClinVar dbSNP
20g.32436048G>CCA510467082ASXL1c.3336G>C (p.Leu1112=)
c.3153G>C (p.Leu1051=)
n.5689G>C
c.1869+1467G>C (n.1869+1467G>C)
c.3321G>C (p.Leu1107=)
c.3333G>C (p.Leu1111=)
c.3306G>C (p.Leu1102=)
c.3252G>C (p.Leu1084=)
c.2652G>C (p.Leu884=)
c.3600G>C (p.Leu1200=)
c.3597G>C (p.Leu1199=)
c.3516G>C (p.Leu1172=)
c.3447G>C (p.Leu1149=)
c.3315G>C (p.Leu1105=)
c.3183G>C (p.Leu1061=)
20g.32436048G=CA2360293510ASXL1c.3336G= (p.Leu1112=)
c.3153G= (p.Leu1051=)
n.5689G=
c.1869+1467G= (n.1869+1467G=)
c.3321G= (p.Leu1107=)
c.3333G= (p.Leu1111=)
c.3306G= (p.Leu1102=)
c.3252G= (p.Leu1084=)
c.2652G= (p.Leu884=)
c.3600G= (p.Leu1200=)
c.3597G= (p.Leu1199=)
c.3516G= (p.Leu1172=)
c.3447G= (p.Leu1149=)
c.3315G= (p.Leu1105=)
c.3183G= (p.Leu1061=)
20g.32436048G>TCA510467088ASXL1c.3336G>T (p.Leu1112=)
c.3153G>T (p.Leu1051=)
n.5689G>T
c.1869+1467G>T (n.1869+1467G>T)
c.3321G>T (p.Leu1107=)
c.3333G>T (p.Leu1111=)
c.3306G>T (p.Leu1102=)
c.3252G>T (p.Leu1084=)
c.2652G>T (p.Leu884=)
c.3600G>T (p.Leu1200=)
c.3597G>T (p.Leu1199=)
c.3516G>T (p.Leu1172=)
c.3447G>T (p.Leu1149=)
c.3315G>T (p.Leu1105=)
c.3183G>T (p.Leu1061=)
 dbSNP
20g.32436049C>ACA408562845ASXL1c.3337C>A (p.Gln1113Lys)
c.3154C>A (p.Gln1052Lys)
n.5690C>A
c.1869+1468C>A (n.1869+1468C>A)
c.3322C>A (p.Gln1108Lys)
c.3334C>A (p.Gln1112Lys)
c.3307C>A (p.Gln1103Lys)
c.3253C>A (p.Gln1085Lys)
c.2653C>A (p.Gln885Lys)
c.3601C>A (p.Gln1201Lys)
c.3598C>A (p.Gln1200Lys)
c.3517C>A (p.Gln1173Lys)
c.3448C>A (p.Gln1150Lys)
c.3316C>A (p.Gln1106Lys)
c.3184C>A (p.Gln1062Lys)
 dbSNP
20g.32436049C>GCA408562846ASXL1c.3337C>G (p.Gln1113Glu)
c.3154C>G (p.Gln1052Glu)
n.5690C>G
c.1869+1468C>G (n.1869+1468C>G)
c.3322C>G (p.Gln1108Glu)
c.3334C>G (p.Gln1112Glu)
c.3307C>G (p.Gln1103Glu)
c.3253C>G (p.Gln1085Glu)
c.2653C>G (p.Gln885Glu)
c.3601C>G (p.Gln1201Glu)
c.3598C>G (p.Gln1200Glu)
c.3517C>G (p.Gln1173Glu)
c.3448C>G (p.Gln1150Glu)
c.3316C>G (p.Gln1106Glu)
c.3184C>G (p.Gln1062Glu)
20g.32436049C>TCA408562847ASXL1c.3337C>T (p.Gln1113Ter)
c.3154C>T (p.Gln1052Ter)
n.5690C>T
c.1869+1468C>T (n.1869+1468C>T)
c.3322C>T (p.Gln1108Ter)
c.3334C>T (p.Gln1112Ter)
c.3307C>T (p.Gln1103Ter)
c.3253C>T (p.Gln1085Ter)
c.2653C>T (p.Gln885Ter)
c.3601C>T (p.Gln1201Ter)
c.3598C>T (p.Gln1200Ter)
c.3517C>T (p.Gln1173Ter)
c.3448C>T (p.Gln1150Ter)
c.3316C>T (p.Gln1106Ter)
c.3184C>T (p.Gln1062Ter)
 dbSNP
20g.32436050A>CCA408562848ASXL1c.3338A>C (p.Gln1113Pro)
c.3155A>C (p.Gln1052Pro)
n.5691A>C
c.1869+1469A>C (n.1869+1469A>C)
c.3323A>C (p.Gln1108Pro)
c.3335A>C (p.Gln1112Pro)
c.3308A>C (p.Gln1103Pro)
c.3254A>C (p.Gln1085Pro)
c.2654A>C (p.Gln885Pro)
c.3602A>C (p.Gln1201Pro)
c.3599A>C (p.Gln1200Pro)
c.3518A>C (p.Gln1173Pro)
c.3449A>C (p.Gln1150Pro)
c.3317A>C (p.Gln1106Pro)
c.3185A>C (p.Gln1062Pro)
20g.32436050A>GCA408562849ASXL1c.3338A>G (p.Gln1113Arg)
c.3155A>G (p.Gln1052Arg)
n.5691A>G
c.1869+1469A>G (n.1869+1469A>G)
c.3323A>G (p.Gln1108Arg)
c.3335A>G (p.Gln1112Arg)
c.3308A>G (p.Gln1103Arg)
c.3254A>G (p.Gln1085Arg)
c.2654A>G (p.Gln885Arg)
c.3602A>G (p.Gln1201Arg)
c.3599A>G (p.Gln1200Arg)
c.3518A>G (p.Gln1173Arg)
c.3449A>G (p.Gln1150Arg)
c.3317A>G (p.Gln1106Arg)
c.3185A>G (p.Gln1062Arg)
 gnomAD v4
20g.32436050A>TCA408562850ASXL1c.3338A>T (p.Gln1113Leu)
c.3155A>T (p.Gln1052Leu)
n.5691A>T
c.1869+1469A>T (n.1869+1469A>T)
c.3323A>T (p.Gln1108Leu)
c.3335A>T (p.Gln1112Leu)
c.3308A>T (p.Gln1103Leu)
c.3254A>T (p.Gln1085Leu)
c.2654A>T (p.Gln885Leu)
c.3602A>T (p.Gln1201Leu)
c.3599A>T (p.Gln1200Leu)
c.3518A>T (p.Gln1173Leu)
c.3449A>T (p.Gln1150Leu)
c.3317A>T (p.Gln1106Leu)
c.3185A>T (p.Gln1062Leu)
20g.32436051G>ACA510467094ASXL1c.3339G>A (p.Gln1113=)
c.3156G>A (p.Gln1052=)
n.5692G>A
c.1869+1470G>A (n.1869+1470G>A)
c.3324G>A (p.Gln1108=)
c.3336G>A (p.Gln1112=)
c.3309G>A (p.Gln1103=)
c.3255G>A (p.Gln1085=)
c.2655G>A (p.Gln885=)
c.3603G>A (p.Gln1201=)
c.3600G>A (p.Gln1200=)
c.3519G>A (p.Gln1173=)
c.3450G>A (p.Gln1150=)
c.3318G>A (p.Gln1106=)
c.3186G>A (p.Gln1062=)
20g.32436051G>CCA408562851ASXL1c.3339G>C (p.Gln1113His)
c.3156G>C (p.Gln1052His)
n.5692G>C
c.1869+1470G>C (n.1869+1470G>C)
c.3324G>C (p.Gln1108His)
c.3336G>C (p.Gln1112His)
c.3309G>C (p.Gln1103His)
c.3255G>C (p.Gln1085His)
c.2655G>C (p.Gln885His)
c.3603G>C (p.Gln1201His)
c.3600G>C (p.Gln1200His)
c.3519G>C (p.Gln1173His)
c.3450G>C (p.Gln1150His)
c.3318G>C (p.Gln1106His)
c.3186G>C (p.Gln1062His)
20g.32436051G>TCA408562852ASXL1c.3339G>T (p.Gln1113His)
c.3156G>T (p.Gln1052His)
n.5692G>T
c.1869+1470G>T (n.1869+1470G>T)
c.3324G>T (p.Gln1108His)
c.3336G>T (p.Gln1112His)
c.3309G>T (p.Gln1103His)
c.3255G>T (p.Gln1085His)
c.2655G>T (p.Gln885His)
c.3603G>T (p.Gln1201His)
c.3600G>T (p.Gln1200His)
c.3519G>T (p.Gln1173His)
c.3450G>T (p.Gln1150His)
c.3318G>T (p.Gln1106His)
c.3186G>T (p.Gln1062His)
20g.32436052G>ACA408562855ASXL1c.3340G>A (p.Gly1114Ser)
c.3157G>A (p.Gly1053Ser)
n.5693G>A
c.1869+1471G>A (n.1869+1471G>A)
c.3325G>A (p.Gly1109Ser)
c.3337G>A (p.Gly1113Ser)
c.3310G>A (p.Gly1104Ser)
c.3256G>A (p.Gly1086Ser)
c.2656G>A (p.Gly886Ser)
c.3604G>A (p.Gly1202Ser)
c.3601G>A (p.Gly1201Ser)
c.3520G>A (p.Gly1174Ser)
c.3451G>A (p.Gly1151Ser)
c.3319G>A (p.Gly1107Ser)
c.3187G>A (p.Gly1063Ser)
20g.32436052G>CCA408562854ASXL1c.3340G>C (p.Gly1114Arg)
c.3157G>C (p.Gly1053Arg)
n.5693G>C
c.1869+1471G>C (n.1869+1471G>C)
c.3325G>C (p.Gly1109Arg)
c.3337G>C (p.Gly1113Arg)
c.3310G>C (p.Gly1104Arg)
c.3256G>C (p.Gly1086Arg)
c.2656G>C (p.Gly886Arg)
c.3604G>C (p.Gly1202Arg)
c.3601G>C (p.Gly1201Arg)
c.3520G>C (p.Gly1174Arg)
c.3451G>C (p.Gly1151Arg)
c.3319G>C (p.Gly1107Arg)
c.3187G>C (p.Gly1063Arg)
20g.32436052G>TCA408562853ASXL1c.3340G>T (p.Gly1114Cys)
c.3157G>T (p.Gly1053Cys)
n.5693G>T
c.1869+1471G>T (n.1869+1471G>T)
c.3325G>T (p.Gly1109Cys)
c.3337G>T (p.Gly1113Cys)
c.3310G>T (p.Gly1104Cys)
c.3256G>T (p.Gly1086Cys)
c.2656G>T (p.Gly886Cys)
c.3604G>T (p.Gly1202Cys)
c.3601G>T (p.Gly1201Cys)
c.3520G>T (p.Gly1174Cys)
c.3451G>T (p.Gly1151Cys)
c.3319G>T (p.Gly1107Cys)
c.3187G>T (p.Gly1063Cys)
20g.32436053G>ACA408562856ASXL1c.3341G>A (p.Gly1114Asp)
c.3158G>A (p.Gly1053Asp)
n.5694G>A
c.1869+1472G>A (n.1869+1472G>A)
c.3326G>A (p.Gly1109Asp)
c.3338G>A (p.Gly1113Asp)
c.3311G>A (p.Gly1104Asp)
c.3257G>A (p.Gly1086Asp)
c.2657G>A (p.Gly886Asp)
c.3605G>A (p.Gly1202Asp)
c.3602G>A (p.Gly1201Asp)
c.3521G>A (p.Gly1174Asp)
c.3452G>A (p.Gly1151Asp)
c.3320G>A (p.Gly1107Asp)
c.3188G>A (p.Gly1063Asp)
 dbSNP
20g.32436053G>CCA408562857ASXL1c.3341G>C (p.Gly1114Ala)
c.3158G>C (p.Gly1053Ala)
n.5694G>C
c.1869+1472G>C (n.1869+1472G>C)
c.3326G>C (p.Gly1109Ala)
c.3338G>C (p.Gly1113Ala)
c.3311G>C (p.Gly1104Ala)
c.3257G>C (p.Gly1086Ala)
c.2657G>C (p.Gly886Ala)
c.3605G>C (p.Gly1202Ala)
c.3602G>C (p.Gly1201Ala)
c.3521G>C (p.Gly1174Ala)
c.3452G>C (p.Gly1151Ala)
c.3320G>C (p.Gly1107Ala)
c.3188G>C (p.Gly1063Ala)
20g.32436053G>TCA408562858ASXL1c.3341G>T (p.Gly1114Val)
c.3158G>T (p.Gly1053Val)
n.5694G>T
c.1869+1472G>T (n.1869+1472G>T)
c.3326G>T (p.Gly1109Val)
c.3338G>T (p.Gly1113Val)
c.3311G>T (p.Gly1104Val)
c.3257G>T (p.Gly1086Val)
c.2657G>T (p.Gly886Val)
c.3605G>T (p.Gly1202Val)
c.3602G>T (p.Gly1201Val)
c.3521G>T (p.Gly1174Val)
c.3452G>T (p.Gly1151Val)
c.3320G>T (p.Gly1107Val)
c.3188G>T (p.Gly1063Val)
20g.32436054T>ACA510467101ASXL1c.3342T>A (p.Gly1114=)
c.3159T>A (p.Gly1053=)
n.5695T>A
c.1869+1473T>A (n.1869+1473T>A)
c.3327T>A (p.Gly1109=)
c.3339T>A (p.Gly1113=)
c.3312T>A (p.Gly1104=)
c.3258T>A (p.Gly1086=)
c.2658T>A (p.Gly886=)
c.3606T>A (p.Gly1202=)
c.3603T>A (p.Gly1201=)
c.3522T>A (p.Gly1174=)
c.3453T>A (p.Gly1151=)
c.3321T>A (p.Gly1107=)
c.3189T>A (p.Gly1063=)
20g.32436054T>CCA510467102ASXL1c.3342T>C (p.Gly1114=)
c.3159T>C (p.Gly1053=)
n.5695T>C
c.1869+1473T>C (n.1869+1473T>C)
c.3327T>C (p.Gly1109=)
c.3339T>C (p.Gly1113=)
c.3312T>C (p.Gly1104=)
c.3258T>C (p.Gly1086=)
c.2658T>C (p.Gly886=)
c.3606T>C (p.Gly1202=)
c.3603T>C (p.Gly1201=)
c.3522T>C (p.Gly1174=)
c.3453T>C (p.Gly1151=)
c.3321T>C (p.Gly1107=)
c.3189T>C (p.Gly1063=)
20g.32436054T>GCA510467104ASXL1c.3342T>G (p.Gly1114=)
c.3159T>G (p.Gly1053=)
n.5695T>G
c.1869+1473T>G (n.1869+1473T>G)
c.3327T>G (p.Gly1109=)
c.3339T>G (p.Gly1113=)
c.3312T>G (p.Gly1104=)
c.3258T>G (p.Gly1086=)
c.2658T>G (p.Gly886=)
c.3606T>G (p.Gly1202=)
c.3603T>G (p.Gly1201=)
c.3522T>G (p.Gly1174=)
c.3453T>G (p.Gly1151=)
c.3321T>G (p.Gly1107=)
c.3189T>G (p.Gly1063=)
 dbSNP
20g.32436057_32436067delCA2652401188ASXL1c.3345_3355del (p.Ser1115ArgfsTer10)
c.3162_3172del (p.Ser1054ArgfsTer10)
n.5698_5708del
c.1869+1476_1869+1486del (n.1869+1476_1869+1486del)
c.3330_3340del (p.Ser1110ArgfsTer10)
c.3342_3352del (p.Ser1114ArgfsTer10)
c.3315_3325del (p.Ser1105ArgfsTer10)
c.3261_3271del (p.Ser1087ArgfsTer10)
c.2661_2671del (p.Ser887ArgfsTer10)
c.3609_3619del (p.Ser1203ArgfsTer10)
c.3606_3616del (p.Ser1202ArgfsTer10)
c.3525_3535del (p.Ser1175ArgfsTer10)
c.3456_3466del (p.Ser1152ArgfsTer10)
c.3324_3334del (p.Ser1108ArgfsTer10)
c.3192_3202del (p.Ser1064ArgfsTer10)
 gnomAD v4
20g.32436055A>CCA408562859ASXL1c.3343A>C (p.Ser1115Arg)
c.3160A>C (p.Ser1054Arg)
n.5696A>C
c.1869+1474A>C (n.1869+1474A>C)
c.3328A>C (p.Ser1110Arg)
c.3340A>C (p.Ser1114Arg)
c.3313A>C (p.Ser1105Arg)
c.3259A>C (p.Ser1087Arg)
c.2659A>C (p.Ser887Arg)
c.3607A>C (p.Ser1203Arg)
c.3604A>C (p.Ser1202Arg)
c.3523A>C (p.Ser1175Arg)
c.3454A>C (p.Ser1152Arg)
c.3322A>C (p.Ser1108Arg)
c.3190A>C (p.Ser1064Arg)
20g.32436055A>GCA408562860ASXL1c.3343A>G (p.Ser1115Gly)
c.3160A>G (p.Ser1054Gly)
n.5696A>G
c.1869+1474A>G (n.1869+1474A>G)
c.3328A>G (p.Ser1110Gly)
c.3340A>G (p.Ser1114Gly)
c.3313A>G (p.Ser1105Gly)
c.3259A>G (p.Ser1087Gly)
c.2659A>G (p.Ser887Gly)
c.3607A>G (p.Ser1203Gly)
c.3604A>G (p.Ser1202Gly)
c.3523A>G (p.Ser1175Gly)
c.3454A>G (p.Ser1152Gly)
c.3322A>G (p.Ser1108Gly)
c.3190A>G (p.Ser1064Gly)
 COSMIC
20g.32436055A>TCA408562861ASXL1c.3343A>T (p.Ser1115Cys)
c.3160A>T (p.Ser1054Cys)
n.5696A>T
c.1869+1474A>T (n.1869+1474A>T)
c.3328A>T (p.Ser1110Cys)
c.3340A>T (p.Ser1114Cys)
c.3313A>T (p.Ser1105Cys)
c.3259A>T (p.Ser1087Cys)
c.2659A>T (p.Ser887Cys)
c.3607A>T (p.Ser1203Cys)
c.3604A>T (p.Ser1202Cys)
c.3523A>T (p.Ser1175Cys)
c.3454A>T (p.Ser1152Cys)
c.3322A>T (p.Ser1108Cys)
c.3190A>T (p.Ser1064Cys)
20g.32436056G>ACA408562862ASXL1c.3344G>A (p.Ser1115Asn)
c.3161G>A (p.Ser1054Asn)
n.5697G>A
c.1869+1475G>A (n.1869+1475G>A)
c.3329G>A (p.Ser1110Asn)
c.3341G>A (p.Ser1114Asn)
c.3314G>A (p.Ser1105Asn)
c.3260G>A (p.Ser1087Asn)
c.2660G>A (p.Ser887Asn)
c.3608G>A (p.Ser1203Asn)
c.3605G>A (p.Ser1202Asn)
c.3524G>A (p.Ser1175Asn)
c.3455G>A (p.Ser1152Asn)
c.3323G>A (p.Ser1108Asn)
c.3191G>A (p.Ser1064Asn)
 dbSNP gnomAD v2 gnomAD v4
20g.32436056G>CCA408562863ASXL1c.3344G>C (p.Ser1115Thr)
c.3161G>C (p.Ser1054Thr)
n.5697G>C
c.1869+1475G>C (n.1869+1475G>C)
c.3329G>C (p.Ser1110Thr)
c.3341G>C (p.Ser1114Thr)
c.3314G>C (p.Ser1105Thr)
c.3260G>C (p.Ser1087Thr)
c.2660G>C (p.Ser887Thr)
c.3608G>C (p.Ser1203Thr)
c.3605G>C (p.Ser1202Thr)
c.3524G>C (p.Ser1175Thr)
c.3455G>C (p.Ser1152Thr)
c.3323G>C (p.Ser1108Thr)
c.3191G>C (p.Ser1064Thr)
20g.32436056G=CA2360293511ASXL1c.3344G= (p.Ser1115=)
c.3161G= (p.Ser1054=)
n.5697G=
c.1869+1475G= (n.1869+1475G=)
c.3329G= (p.Ser1110=)
c.3341G= (p.Ser1114=)
c.3314G= (p.Ser1105=)
c.3260G= (p.Ser1087=)
c.2660G= (p.Ser887=)
c.3608G= (p.Ser1203=)
c.3605G= (p.Ser1202=)
c.3524G= (p.Ser1175=)
c.3455G= (p.Ser1152=)
c.3323G= (p.Ser1108=)
c.3191G= (p.Ser1064=)
20g.32436056G>TCA408562864ASXL1c.3344G>T (p.Ser1115Ile)
c.3161G>T (p.Ser1054Ile)
n.5697G>T
c.1869+1475G>T (n.1869+1475G>T)
c.3329G>T (p.Ser1110Ile)
c.3341G>T (p.Ser1114Ile)
c.3314G>T (p.Ser1105Ile)
c.3260G>T (p.Ser1087Ile)
c.2660G>T (p.Ser887Ile)
c.3608G>T (p.Ser1203Ile)
c.3605G>T (p.Ser1202Ile)
c.3524G>T (p.Ser1175Ile)
c.3455G>T (p.Ser1152Ile)
c.3323G>T (p.Ser1108Ile)
c.3191G>T (p.Ser1064Ile)
20g.32436057C>ACA408562865ASXL1c.3345C>A (p.Ser1115Arg)
c.3162C>A (p.Ser1054Arg)
n.5698C>A
c.1869+1476C>A (n.1869+1476C>A)
c.3330C>A (p.Ser1110Arg)
c.3342C>A (p.Ser1114Arg)
c.3315C>A (p.Ser1105Arg)
c.3261C>A (p.Ser1087Arg)
c.2661C>A (p.Ser887Arg)
c.3609C>A (p.Ser1203Arg)
c.3606C>A (p.Ser1202Arg)
c.3525C>A (p.Ser1175Arg)
c.3456C>A (p.Ser1152Arg)
c.3324C>A (p.Ser1108Arg)
c.3192C>A (p.Ser1064Arg)
20g.32436057C=CA2360293512ASXL1c.3345C= (p.Ser1115=)
c.3162C= (p.Ser1054=)
n.5698C=
c.1869+1476C= (n.1869+1476C=)
c.3330C= (p.Ser1110=)
c.3342C= (p.Ser1114=)
c.3315C= (p.Ser1105=)
c.3261C= (p.Ser1087=)
c.2661C= (p.Ser887=)
c.3609C= (p.Ser1203=)
c.3606C= (p.Ser1202=)
c.3525C= (p.Ser1175=)
c.3456C= (p.Ser1152=)
c.3324C= (p.Ser1108=)
c.3192C= (p.Ser1064=)
20g.32436057C>GCA408562866ASXL1c.3345C>G (p.Ser1115Arg)
c.3162C>G (p.Ser1054Arg)
n.5698C>G
c.1869+1476C>G (n.1869+1476C>G)
c.3330C>G (p.Ser1110Arg)
c.3342C>G (p.Ser1114Arg)
c.3315C>G (p.Ser1105Arg)
c.3261C>G (p.Ser1087Arg)
c.2661C>G (p.Ser887Arg)
c.3609C>G (p.Ser1203Arg)
c.3606C>G (p.Ser1202Arg)
c.3525C>G (p.Ser1175Arg)
c.3456C>G (p.Ser1152Arg)
c.3324C>G (p.Ser1108Arg)
c.3192C>G (p.Ser1064Arg)
20g.32436057C>TCA510467110ASXL1c.3345C>T (p.Ser1115=)
c.3162C>T (p.Ser1054=)
n.5698C>T
c.1869+1476C>T (n.1869+1476C>T)
c.3330C>T (p.Ser1110=)
c.3342C>T (p.Ser1114=)
c.3315C>T (p.Ser1105=)
c.3261C>T (p.Ser1087=)
c.2661C>T (p.Ser887=)
c.3609C>T (p.Ser1203=)
c.3606C>T (p.Ser1202=)
c.3525C>T (p.Ser1175=)
c.3456C>T (p.Ser1152=)
c.3324C>T (p.Ser1108=)
c.3192C>T (p.Ser1064=)
 dbSNP
20g.32436058T>ACA408562867ASXL1c.3346T>A (p.Leu1116Met)
c.3163T>A (p.Leu1055Met)
n.5699T>A
c.1869+1477T>A (n.1869+1477T>A)
c.3331T>A (p.Leu1111Met)
c.3343T>A (p.Leu1115Met)
c.3316T>A (p.Leu1106Met)
c.3262T>A (p.Leu1088Met)
c.2662T>A (p.Leu888Met)
c.3610T>A (p.Leu1204Met)
c.3607T>A (p.Leu1203Met)
c.3526T>A (p.Leu1176Met)
c.3457T>A (p.Leu1153Met)
c.3325T>A (p.Leu1109Met)
c.3193T>A (p.Leu1065Met)
 dbSNP
20g.32436058T>CCA510467112ASXL1c.3346T>C (p.Leu1116=)
c.3163T>C (p.Leu1055=)
n.5699T>C
c.1869+1477T>C (n.1869+1477T>C)
c.3331T>C (p.Leu1111=)
c.3343T>C (p.Leu1115=)
c.3316T>C (p.Leu1106=)
c.3262T>C (p.Leu1088=)
c.2662T>C (p.Leu888=)
c.3610T>C (p.Leu1204=)
c.3607T>C (p.Leu1203=)
c.3526T>C (p.Leu1176=)
c.3457T>C (p.Leu1153=)
c.3325T>C (p.Leu1109=)
c.3193T>C (p.Leu1065=)
 gnomAD v4
20g.32436058T>GCA408562868ASXL1c.3346T>G (p.Leu1116Val)
c.3163T>G (p.Leu1055Val)
n.5699T>G
c.1869+1477T>G (n.1869+1477T>G)
c.3331T>G (p.Leu1111Val)
c.3343T>G (p.Leu1115Val)
c.3316T>G (p.Leu1106Val)
c.3262T>G (p.Leu1088Val)
c.2662T>G (p.Leu888Val)
c.3610T>G (p.Leu1204Val)
c.3607T>G (p.Leu1203Val)
c.3526T>G (p.Leu1176Val)
c.3457T>G (p.Leu1153Val)
c.3325T>G (p.Leu1109Val)
c.3193T>G (p.Leu1065Val)
20g.32436059T>ACA408562870ASXL1c.3347T>A (p.Leu1116Ter)
c.3164T>A (p.Leu1055Ter)
n.5700T>A
c.1869+1478T>A (n.1869+1478T>A)
c.3332T>A (p.Leu1111Ter)
c.3344T>A (p.Leu1115Ter)
c.3317T>A (p.Leu1106Ter)
c.3263T>A (p.Leu1088Ter)
c.2663T>A (p.Leu888Ter)
c.3611T>A (p.Leu1204Ter)
c.3608T>A (p.Leu1203Ter)
c.3527T>A (p.Leu1176Ter)
c.3458T>A (p.Leu1153Ter)
c.3326T>A (p.Leu1109Ter)
c.3194T>A (p.Leu1065Ter)
20g.32436059T>CCA408562871ASXL1c.3347T>C (p.Leu1116Ser)
c.3164T>C (p.Leu1055Ser)
n.5700T>C
c.1869+1478T>C (n.1869+1478T>C)
c.3332T>C (p.Leu1111Ser)
c.3344T>C (p.Leu1115Ser)
c.3317T>C (p.Leu1106Ser)
c.3263T>C (p.Leu1088Ser)
c.2663T>C (p.Leu888Ser)
c.3611T>C (p.Leu1204Ser)
c.3608T>C (p.Leu1203Ser)
c.3527T>C (p.Leu1176Ser)
c.3458T>C (p.Leu1153Ser)
c.3326T>C (p.Leu1109Ser)
c.3194T>C (p.Leu1065Ser)
20g.32436059T>GCA408562869ASXL1c.3347T>G (p.Leu1116Trp)
c.3164T>G (p.Leu1055Trp)
n.5700T>G
c.1869+1478T>G (n.1869+1478T>G)
c.3332T>G (p.Leu1111Trp)
c.3344T>G (p.Leu1115Trp)
c.3317T>G (p.Leu1106Trp)
c.3263T>G (p.Leu1088Trp)
c.2663T>G (p.Leu888Trp)
c.3611T>G (p.Leu1204Trp)
c.3608T>G (p.Leu1203Trp)
c.3527T>G (p.Leu1176Trp)
c.3458T>G (p.Leu1153Trp)
c.3326T>G (p.Leu1109Trp)
c.3194T>G (p.Leu1065Trp)
20g.32436060G>ACA9808798ASXL1c.3348G>A (p.Leu1116=)
c.3165G>A (p.Leu1055=)
n.5701G>A
c.1869+1479G>A (n.1869+1479G>A)
c.3333G>A (p.Leu1111=)
c.3345G>A (p.Leu1115=)
c.3318G>A (p.Leu1106=)
c.3264G>A (p.Leu1088=)
c.2664G>A (p.Leu888=)
c.3612G>A (p.Leu1204=)
c.3609G>A (p.Leu1203=)
c.3528G>A (p.Leu1176=)
c.3459G>A (p.Leu1153=)
c.3327G>A (p.Leu1109=)
c.3195G>A (p.Leu1065=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436060G>CCA408562872ASXL1c.3348G>C (p.Leu1116Phe)
c.3165G>C (p.Leu1055Phe)
n.5701G>C
c.1869+1479G>C (n.1869+1479G>C)
c.3333G>C (p.Leu1111Phe)
c.3345G>C (p.Leu1115Phe)
c.3318G>C (p.Leu1106Phe)
c.3264G>C (p.Leu1088Phe)
c.2664G>C (p.Leu888Phe)
c.3612G>C (p.Leu1204Phe)
c.3609G>C (p.Leu1203Phe)
c.3528G>C (p.Leu1176Phe)
c.3459G>C (p.Leu1153Phe)
c.3327G>C (p.Leu1109Phe)
c.3195G>C (p.Leu1065Phe)
20g.32436060G=CA2360293513ASXL1c.3348G= (p.Leu1116=)
c.3165G= (p.Leu1055=)
n.5701G=
c.1869+1479G= (n.1869+1479G=)
c.3333G= (p.Leu1111=)
c.3345G= (p.Leu1115=)
c.3318G= (p.Leu1106=)
c.3264G= (p.Leu1088=)
c.2664G= (p.Leu888=)
c.3612G= (p.Leu1204=)
c.3609G= (p.Leu1203=)
c.3528G= (p.Leu1176=)
c.3459G= (p.Leu1153=)
c.3327G= (p.Leu1109=)
c.3195G= (p.Leu1065=)
20g.32436060G>TCA408562873ASXL1c.3348G>T (p.Leu1116Phe)
c.3165G>T (p.Leu1055Phe)
n.5701G>T
c.1869+1479G>T (n.1869+1479G>T)
c.3333G>T (p.Leu1111Phe)
c.3345G>T (p.Leu1115Phe)
c.3318G>T (p.Leu1106Phe)
c.3264G>T (p.Leu1088Phe)
c.2664G>T (p.Leu888Phe)
c.3612G>T (p.Leu1204Phe)
c.3609G>T (p.Leu1203Phe)
c.3528G>T (p.Leu1176Phe)
c.3459G>T (p.Leu1153Phe)
c.3327G>T (p.Leu1109Phe)
c.3195G>T (p.Leu1065Phe)
 gnomAD v4
20g.32436061C>ACA408562874ASXL1c.3349C>A (p.Pro1117Thr)
c.3166C>A (p.Pro1056Thr)
n.5702C>A
c.1869+1480C>A (n.1869+1480C>A)
c.3334C>A (p.Pro1112Thr)
c.3346C>A (p.Pro1116Thr)
c.3319C>A (p.Pro1107Thr)
c.3265C>A (p.Pro1089Thr)
c.2665C>A (p.Pro889Thr)
c.3613C>A (p.Pro1205Thr)
c.3610C>A (p.Pro1204Thr)
c.3529C>A (p.Pro1177Thr)
c.3460C>A (p.Pro1154Thr)
c.3328C>A (p.Pro1110Thr)
c.3196C>A (p.Pro1066Thr)
 dbSNP gnomAD v4
20g.32436061C=CA2360293514ASXL1c.3349C= (p.Pro1117=)
c.3166C= (p.Pro1056=)
n.5702C=
c.1869+1480C= (n.1869+1480C=)
c.3334C= (p.Pro1112=)
c.3346C= (p.Pro1116=)
c.3319C= (p.Pro1107=)
c.3265C= (p.Pro1089=)
c.2665C= (p.Pro889=)
c.3613C= (p.Pro1205=)
c.3610C= (p.Pro1204=)
c.3529C= (p.Pro1177=)
c.3460C= (p.Pro1154=)
c.3328C= (p.Pro1110=)
c.3196C= (p.Pro1066=)
20g.32436061C>GCA408562875ASXL1c.3349C>G (p.Pro1117Ala)
c.3166C>G (p.Pro1056Ala)
n.5702C>G
c.1869+1480C>G (n.1869+1480C>G)
c.3334C>G (p.Pro1112Ala)
c.3346C>G (p.Pro1116Ala)
c.3319C>G (p.Pro1107Ala)
c.3265C>G (p.Pro1089Ala)
c.2665C>G (p.Pro889Ala)
c.3613C>G (p.Pro1205Ala)
c.3610C>G (p.Pro1204Ala)
c.3529C>G (p.Pro1177Ala)
c.3460C>G (p.Pro1154Ala)
c.3328C>G (p.Pro1110Ala)
c.3196C>G (p.Pro1066Ala)
20g.32436061C>TCA408562876ASXL1c.3349C>T (p.Pro1117Ser)
c.3166C>T (p.Pro1056Ser)
n.5702C>T
c.1869+1480C>T (n.1869+1480C>T)
c.3334C>T (p.Pro1112Ser)
c.3346C>T (p.Pro1116Ser)
c.3319C>T (p.Pro1107Ser)
c.3265C>T (p.Pro1089Ser)
c.2665C>T (p.Pro889Ser)
c.3613C>T (p.Pro1205Ser)
c.3610C>T (p.Pro1204Ser)
c.3529C>T (p.Pro1177Ser)
c.3460C>T (p.Pro1154Ser)
c.3328C>T (p.Pro1110Ser)
c.3196C>T (p.Pro1066Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.32436062C>ACA408562877ASXL1c.3350C>A (p.Pro1117His)
c.3167C>A (p.Pro1056His)
n.5703C>A
c.1869+1481C>A (n.1869+1481C>A)
c.3335C>A (p.Pro1112His)
c.3347C>A (p.Pro1116His)
c.3320C>A (p.Pro1107His)
c.3266C>A (p.Pro1089His)
c.2666C>A (p.Pro889His)
c.3614C>A (p.Pro1205His)
c.3611C>A (p.Pro1204His)
c.3530C>A (p.Pro1177His)
c.3461C>A (p.Pro1154His)
c.3329C>A (p.Pro1110His)
c.3197C>A (p.Pro1066His)
 dbSNP
20g.32436062C>GCA408562878ASXL1c.3350C>G (p.Pro1117Arg)
c.3167C>G (p.Pro1056Arg)
n.5703C>G
c.1869+1481C>G (n.1869+1481C>G)
c.3335C>G (p.Pro1112Arg)
c.3347C>G (p.Pro1116Arg)
c.3320C>G (p.Pro1107Arg)
c.3266C>G (p.Pro1089Arg)
c.2666C>G (p.Pro889Arg)
c.3614C>G (p.Pro1205Arg)
c.3611C>G (p.Pro1204Arg)
c.3530C>G (p.Pro1177Arg)
c.3461C>G (p.Pro1154Arg)
c.3329C>G (p.Pro1110Arg)
c.3197C>G (p.Pro1066Arg)
20g.32436062C>TCA408562879ASXL1c.3350C>T (p.Pro1117Leu)
c.3167C>T (p.Pro1056Leu)
n.5703C>T
c.1869+1481C>T (n.1869+1481C>T)
c.3335C>T (p.Pro1112Leu)
c.3347C>T (p.Pro1116Leu)
c.3320C>T (p.Pro1107Leu)
c.3266C>T (p.Pro1089Leu)
c.2666C>T (p.Pro889Leu)
c.3614C>T (p.Pro1205Leu)
c.3611C>T (p.Pro1204Leu)
c.3530C>T (p.Pro1177Leu)
c.3461C>T (p.Pro1154Leu)
c.3329C>T (p.Pro1110Leu)
c.3197C>T (p.Pro1066Leu)
 COSMIC
20g.32436063C>ACA9808799ASXL1c.3351C>A (p.Pro1117=)
c.3168C>A (p.Pro1056=)
n.5704C>A
c.1869+1482C>A (n.1869+1482C>A)
c.3336C>A (p.Pro1112=)
c.3348C>A (p.Pro1116=)
c.3321C>A (p.Pro1107=)
c.3267C>A (p.Pro1089=)
c.2667C>A (p.Pro889=)
c.3615C>A (p.Pro1205=)
c.3612C>A (p.Pro1204=)
c.3531C>A (p.Pro1177=)
c.3462C>A (p.Pro1154=)
c.3330C>A (p.Pro1110=)
c.3198C>A (p.Pro1066=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436063C=CA2360293515ASXL1c.3351C= (p.Pro1117=)
c.3168C= (p.Pro1056=)
n.5704C=
c.1869+1482C= (n.1869+1482C=)
c.3336C= (p.Pro1112=)
c.3348C= (p.Pro1116=)
c.3321C= (p.Pro1107=)
c.3267C= (p.Pro1089=)
c.2667C= (p.Pro889=)
c.3615C= (p.Pro1205=)
c.3612C= (p.Pro1204=)
c.3531C= (p.Pro1177=)
c.3462C= (p.Pro1154=)
c.3330C= (p.Pro1110=)
c.3198C= (p.Pro1066=)
20g.32436063C>GCA510467124ASXL1c.3351C>G (p.Pro1117=)
c.3168C>G (p.Pro1056=)
n.5704C>G
c.1869+1482C>G (n.1869+1482C>G)
c.3336C>G (p.Pro1112=)
c.3348C>G (p.Pro1116=)
c.3321C>G (p.Pro1107=)
c.3267C>G (p.Pro1089=)
c.2667C>G (p.Pro889=)
c.3615C>G (p.Pro1205=)
c.3612C>G (p.Pro1204=)
c.3531C>G (p.Pro1177=)
c.3462C>G (p.Pro1154=)
c.3330C>G (p.Pro1110=)
c.3198C>G (p.Pro1066=)
 dbSNP
20g.32436063C>TCA510467121ASXL1c.3351C>T (p.Pro1117=)
c.3168C>T (p.Pro1056=)
n.5704C>T
c.1869+1482C>T (n.1869+1482C>T)
c.3336C>T (p.Pro1112=)
c.3348C>T (p.Pro1116=)
c.3321C>T (p.Pro1107=)
c.3267C>T (p.Pro1089=)
c.2667C>T (p.Pro889=)
c.3615C>T (p.Pro1205=)
c.3612C>T (p.Pro1204=)
c.3531C>T (p.Pro1177=)
c.3462C>T (p.Pro1154=)
c.3330C>T (p.Pro1110=)
c.3198C>T (p.Pro1066=)
 dbSNP gnomAD v4 COSMIC
20g.32436064C>ACA408562880ASXL1c.3352C>A (p.Leu1118Ile)
c.3169C>A (p.Leu1057Ile)
n.5705C>A
c.1869+1483C>A (n.1869+1483C>A)
c.3337C>A (p.Leu1113Ile)
c.3349C>A (p.Leu1117Ile)
c.3322C>A (p.Leu1108Ile)
c.3268C>A (p.Leu1090Ile)
c.2668C>A (p.Leu890Ile)
c.3616C>A (p.Leu1206Ile)
c.3613C>A (p.Leu1205Ile)
c.3532C>A (p.Leu1178Ile)
c.3463C>A (p.Leu1155Ile)
c.3331C>A (p.Leu1111Ile)
c.3199C>A (p.Leu1067Ile)
20g.32436064C=CA2360293516ASXL1c.3352C= (p.Leu1118=)
c.3169C= (p.Leu1057=)
n.5705C=
c.1869+1483C= (n.1869+1483C=)
c.3337C= (p.Leu1113=)
c.3349C= (p.Leu1117=)
c.3322C= (p.Leu1108=)
c.3268C= (p.Leu1090=)
c.2668C= (p.Leu890=)
c.3616C= (p.Leu1206=)
c.3613C= (p.Leu1205=)
c.3532C= (p.Leu1178=)
c.3463C= (p.Leu1155=)
c.3331C= (p.Leu1111=)
c.3199C= (p.Leu1067=)
20g.32436064C>GCA408562881ASXL1c.3352C>G (p.Leu1118Val)
c.3169C>G (p.Leu1057Val)
n.5705C>G
c.1869+1483C>G (n.1869+1483C>G)
c.3337C>G (p.Leu1113Val)
c.3349C>G (p.Leu1117Val)
c.3322C>G (p.Leu1108Val)
c.3268C>G (p.Leu1090Val)
c.2668C>G (p.Leu890Val)
c.3616C>G (p.Leu1206Val)
c.3613C>G (p.Leu1205Val)
c.3532C>G (p.Leu1178Val)
c.3463C>G (p.Leu1155Val)
c.3331C>G (p.Leu1111Val)
c.3199C>G (p.Leu1067Val)
20g.32436064C>TCA510467125ASXL1c.3352C>T (p.Leu1118=)
c.3169C>T (p.Leu1057=)
n.5705C>T
c.1869+1483C>T (n.1869+1483C>T)
c.3337C>T (p.Leu1113=)
c.3349C>T (p.Leu1117=)
c.3322C>T (p.Leu1108=)
c.3268C>T (p.Leu1090=)
c.2668C>T (p.Leu890=)
c.3616C>T (p.Leu1206=)
c.3613C>T (p.Leu1205=)
c.3532C>T (p.Leu1178=)
c.3463C>T (p.Leu1155=)
c.3331C>T (p.Leu1111=)
c.3199C>T (p.Leu1067=)
 ClinVar dbSNP gnomAD v4
20g.32436065T>ACA408562884ASXL1c.3353T>A (p.Leu1118Gln)
c.3170T>A (p.Leu1057Gln)
n.5706T>A
c.1869+1484T>A (n.1869+1484T>A)
c.3338T>A (p.Leu1113Gln)
c.3350T>A (p.Leu1117Gln)
c.3323T>A (p.Leu1108Gln)
c.3269T>A (p.Leu1090Gln)
c.2669T>A (p.Leu890Gln)
c.3617T>A (p.Leu1206Gln)
c.3614T>A (p.Leu1205Gln)
c.3533T>A (p.Leu1178Gln)
c.3464T>A (p.Leu1155Gln)
c.3332T>A (p.Leu1111Gln)
c.3200T>A (p.Leu1067Gln)
20g.32436065T>CCA408562882ASXL1c.3353T>C (p.Leu1118Pro)
c.3170T>C (p.Leu1057Pro)
n.5706T>C
c.1869+1484T>C (n.1869+1484T>C)
c.3338T>C (p.Leu1113Pro)
c.3350T>C (p.Leu1117Pro)
c.3323T>C (p.Leu1108Pro)
c.3269T>C (p.Leu1090Pro)
c.2669T>C (p.Leu890Pro)
c.3617T>C (p.Leu1206Pro)
c.3614T>C (p.Leu1205Pro)
c.3533T>C (p.Leu1178Pro)
c.3464T>C (p.Leu1155Pro)
c.3332T>C (p.Leu1111Pro)
c.3200T>C (p.Leu1067Pro)
20g.32436065T>GCA408562883ASXL1c.3353T>G (p.Leu1118Arg)
c.3170T>G (p.Leu1057Arg)
n.5706T>G
c.1869+1484T>G (n.1869+1484T>G)
c.3338T>G (p.Leu1113Arg)
c.3350T>G (p.Leu1117Arg)
c.3323T>G (p.Leu1108Arg)
c.3269T>G (p.Leu1090Arg)
c.2669T>G (p.Leu890Arg)
c.3617T>G (p.Leu1206Arg)
c.3614T>G (p.Leu1205Arg)
c.3533T>G (p.Leu1178Arg)
c.3464T>G (p.Leu1155Arg)
c.3332T>G (p.Leu1111Arg)
c.3200T>G (p.Leu1067Arg)
 gnomAD v4
20g.32436066A>CCA510467128ASXL1c.3354A>C (p.Leu1118=)
c.3171A>C (p.Leu1057=)
n.5707A>C
c.1869+1485A>C (n.1869+1485A>C)
c.3339A>C (p.Leu1113=)
c.3351A>C (p.Leu1117=)
c.3324A>C (p.Leu1108=)
c.3270A>C (p.Leu1090=)
c.2670A>C (p.Leu890=)
c.3618A>C (p.Leu1206=)
c.3615A>C (p.Leu1205=)
c.3534A>C (p.Leu1178=)
c.3465A>C (p.Leu1155=)
c.3333A>C (p.Leu1111=)
c.3201A>C (p.Leu1067=)
20g.32436066A>GCA510467129ASXL1c.3354A>G (p.Leu1118=)
c.3171A>G (p.Leu1057=)
n.5707A>G
c.1869+1485A>G (n.1869+1485A>G)
c.3339A>G (p.Leu1113=)
c.3351A>G (p.Leu1117=)
c.3324A>G (p.Leu1108=)
c.3270A>G (p.Leu1090=)
c.2670A>G (p.Leu890=)
c.3618A>G (p.Leu1206=)
c.3615A>G (p.Leu1205=)
c.3534A>G (p.Leu1178=)
c.3465A>G (p.Leu1155=)
c.3333A>G (p.Leu1111=)
c.3201A>G (p.Leu1067=)
20g.32436066A>TCA510467130ASXL1c.3354A>T (p.Leu1118=)
c.3171A>T (p.Leu1057=)
n.5707A>T
c.1869+1485A>T (n.1869+1485A>T)
c.3339A>T (p.Leu1113=)
c.3351A>T (p.Leu1117=)
c.3324A>T (p.Leu1108=)
c.3270A>T (p.Leu1090=)
c.2670A>T (p.Leu890=)
c.3618A>T (p.Leu1206=)
c.3615A>T (p.Leu1205=)
c.3534A>T (p.Leu1178=)
c.3465A>T (p.Leu1155=)
c.3333A>T (p.Leu1111=)
c.3201A>T (p.Leu1067=)
20g.32436067G>ACA408562885ASXL1c.3355G>A (p.Glu1119Lys)
c.3172G>A (p.Glu1058Lys)
n.5708G>A
c.1869+1486G>A (n.1869+1486G>A)
c.3340G>A (p.Glu1114Lys)
c.3352G>A (p.Glu1118Lys)
c.3325G>A (p.Glu1109Lys)
c.3271G>A (p.Glu1091Lys)
c.2671G>A (p.Glu891Lys)
c.3619G>A (p.Glu1207Lys)
c.3616G>A (p.Glu1206Lys)
c.3535G>A (p.Glu1179Lys)
c.3466G>A (p.Glu1156Lys)
c.3334G>A (p.Glu1112Lys)
c.3202G>A (p.Glu1068Lys)
20g.32436067G>CCA408562886ASXL1c.3355G>C (p.Glu1119Gln)
c.3172G>C (p.Glu1058Gln)
n.5708G>C
c.1869+1486G>C (n.1869+1486G>C)
c.3340G>C (p.Glu1114Gln)
c.3352G>C (p.Glu1118Gln)
c.3325G>C (p.Glu1109Gln)
c.3271G>C (p.Glu1091Gln)
c.2671G>C (p.Glu891Gln)
c.3619G>C (p.Glu1207Gln)
c.3616G>C (p.Glu1206Gln)
c.3535G>C (p.Glu1179Gln)
c.3466G>C (p.Glu1156Gln)
c.3334G>C (p.Glu1112Gln)
c.3202G>C (p.Glu1068Gln)
20g.32436067G>TCA408562887ASXL1c.3355G>T (p.Glu1119Ter)
c.3172G>T (p.Glu1058Ter)
n.5708G>T
c.1869+1486G>T (n.1869+1486G>T)
c.3340G>T (p.Glu1114Ter)
c.3352G>T (p.Glu1118Ter)
c.3325G>T (p.Glu1109Ter)
c.3271G>T (p.Glu1091Ter)
c.2671G>T (p.Glu891Ter)
c.3619G>T (p.Glu1207Ter)
c.3616G>T (p.Glu1206Ter)
c.3535G>T (p.Glu1179Ter)
c.3466G>T (p.Glu1156Ter)
c.3334G>T (p.Glu1112Ter)
c.3202G>T (p.Glu1068Ter)
20g.32436068A>CCA408562888ASXL1c.3356A>C (p.Glu1119Ala)
c.3173A>C (p.Glu1058Ala)
n.5709A>C
c.1869+1487A>C (n.1869+1487A>C)
c.3341A>C (p.Glu1114Ala)
c.3353A>C (p.Glu1118Ala)
c.3326A>C (p.Glu1109Ala)
c.3272A>C (p.Glu1091Ala)
c.2672A>C (p.Glu891Ala)
c.3620A>C (p.Glu1207Ala)
c.3617A>C (p.Glu1206Ala)
c.3536A>C (p.Glu1179Ala)
c.3467A>C (p.Glu1156Ala)
c.3335A>C (p.Glu1112Ala)
c.3203A>C (p.Glu1068Ala)
20g.32436068A>GCA408562889ASXL1c.3356A>G (p.Glu1119Gly)
c.3173A>G (p.Glu1058Gly)
n.5709A>G
c.1869+1487A>G (n.1869+1487A>G)
c.3341A>G (p.Glu1114Gly)
c.3353A>G (p.Glu1118Gly)
c.3326A>G (p.Glu1109Gly)
c.3272A>G (p.Glu1091Gly)
c.2672A>G (p.Glu891Gly)
c.3620A>G (p.Glu1207Gly)
c.3617A>G (p.Glu1206Gly)
c.3536A>G (p.Glu1179Gly)
c.3467A>G (p.Glu1156Gly)
c.3335A>G (p.Glu1112Gly)
c.3203A>G (p.Glu1068Gly)
20g.32436068A>TCA408562890ASXL1c.3356A>T (p.Glu1119Val)
c.3173A>T (p.Glu1058Val)
n.5709A>T
c.1869+1487A>T (n.1869+1487A>T)
c.3341A>T (p.Glu1114Val)
c.3353A>T (p.Glu1118Val)
c.3326A>T (p.Glu1109Val)
c.3272A>T (p.Glu1091Val)
c.2672A>T (p.Glu891Val)
c.3620A>T (p.Glu1207Val)
c.3617A>T (p.Glu1206Val)
c.3536A>T (p.Glu1179Val)
c.3467A>T (p.Glu1156Val)
c.3335A>T (p.Glu1112Val)
c.3203A>T (p.Glu1068Val)
20g.32436069G>ACA510467135ASXL1c.3357G>A (p.Glu1119=)
c.3174G>A (p.Glu1058=)
n.5710G>A
c.1869+1488G>A (n.1869+1488G>A)
c.3342G>A (p.Glu1114=)
c.3354G>A (p.Glu1118=)
c.3327G>A (p.Glu1109=)
c.3273G>A (p.Glu1091=)
c.2673G>A (p.Glu891=)
c.3621G>A (p.Glu1207=)
c.3618G>A (p.Glu1206=)
c.3537G>A (p.Glu1179=)
c.3468G>A (p.Glu1156=)
c.3336G>A (p.Glu1112=)
c.3204G>A (p.Glu1068=)
20g.32436069G>CCA408562891ASXL1c.3357G>C (p.Glu1119Asp)
c.3174G>C (p.Glu1058Asp)
n.5710G>C
c.1869+1488G>C (n.1869+1488G>C)
c.3342G>C (p.Glu1114Asp)
c.3354G>C (p.Glu1118Asp)
c.3327G>C (p.Glu1109Asp)
c.3273G>C (p.Glu1091Asp)
c.2673G>C (p.Glu891Asp)
c.3621G>C (p.Glu1207Asp)
c.3618G>C (p.Glu1206Asp)
c.3537G>C (p.Glu1179Asp)
c.3468G>C (p.Glu1156Asp)
c.3336G>C (p.Glu1112Asp)
c.3204G>C (p.Glu1068Asp)
 dbSNP gnomAD v2 gnomAD v4
20g.32436069G=CA2360293517ASXL1c.3357G= (p.Glu1119=)
c.3174G= (p.Glu1058=)
n.5710G=
c.1869+1488G= (n.1869+1488G=)
c.3342G= (p.Glu1114=)
c.3354G= (p.Glu1118=)
c.3327G= (p.Glu1109=)
c.3273G= (p.Glu1091=)
c.2673G= (p.Glu891=)
c.3621G= (p.Glu1207=)
c.3618G= (p.Glu1206=)
c.3537G= (p.Glu1179=)
c.3468G= (p.Glu1156=)
c.3336G= (p.Glu1112=)
c.3204G= (p.Glu1068=)
20g.32436069G>TCA408562892ASXL1c.3357G>T (p.Glu1119Asp)
c.3174G>T (p.Glu1058Asp)
n.5710G>T
c.1869+1488G>T (n.1869+1488G>T)
c.3342G>T (p.Glu1114Asp)
c.3354G>T (p.Glu1118Asp)
c.3327G>T (p.Glu1109Asp)
c.3273G>T (p.Glu1091Asp)
c.2673G>T (p.Glu891Asp)
c.3621G>T (p.Glu1207Asp)
c.3618G>T (p.Glu1206Asp)
c.3537G>T (p.Glu1179Asp)
c.3468G>T (p.Glu1156Asp)
c.3336G>T (p.Glu1112Asp)
c.3204G>T (p.Glu1068Asp)
20g.32436070A>CCA408562893ASXL1c.3358A>C (p.Lys1120Gln)
c.3175A>C (p.Lys1059Gln)
n.5711A>C
c.1869+1489A>C (n.1869+1489A>C)
c.3343A>C (p.Lys1115Gln)
c.3355A>C (p.Lys1119Gln)
c.3328A>C (p.Lys1110Gln)
c.3274A>C (p.Lys1092Gln)
c.2674A>C (p.Lys892Gln)
c.3622A>C (p.Lys1208Gln)
c.3619A>C (p.Lys1207Gln)
c.3538A>C (p.Lys1180Gln)
c.3469A>C (p.Lys1157Gln)
c.3337A>C (p.Lys1113Gln)
c.3205A>C (p.Lys1069Gln)
20g.32436070A>GCA408562894ASXL1c.3358A>G (p.Lys1120Glu)
c.3175A>G (p.Lys1059Glu)
n.5711A>G
c.1869+1489A>G (n.1869+1489A>G)
c.3343A>G (p.Lys1115Glu)
c.3355A>G (p.Lys1119Glu)
c.3328A>G (p.Lys1110Glu)
c.3274A>G (p.Lys1092Glu)
c.2674A>G (p.Lys892Glu)
c.3622A>G (p.Lys1208Glu)
c.3619A>G (p.Lys1207Glu)
c.3538A>G (p.Lys1180Glu)
c.3469A>G (p.Lys1157Glu)
c.3337A>G (p.Lys1113Glu)
c.3205A>G (p.Lys1069Glu)
20g.32436070A>TCA408562895ASXL1c.3358A>T (p.Lys1120Ter)
c.3175A>T (p.Lys1059Ter)
n.5711A>T
c.1869+1489A>T (n.1869+1489A>T)
c.3343A>T (p.Lys1115Ter)
c.3355A>T (p.Lys1119Ter)
c.3328A>T (p.Lys1110Ter)
c.3274A>T (p.Lys1092Ter)
c.2674A>T (p.Lys892Ter)
c.3622A>T (p.Lys1208Ter)
c.3619A>T (p.Lys1207Ter)
c.3538A>T (p.Lys1180Ter)
c.3469A>T (p.Lys1157Ter)
c.3337A>T (p.Lys1113Ter)
c.3205A>T (p.Lys1069Ter)
20g.32436071A=CA2360293518ASXL1c.3359A= (p.Lys1120=)
c.3176A= (p.Lys1059=)
n.5712A=
c.1869+1490A= (n.1869+1490A=)
c.3344A= (p.Lys1115=)
c.3356A= (p.Lys1119=)
c.3329A= (p.Lys1110=)
c.3275A= (p.Lys1092=)
c.2675A= (p.Lys892=)
c.3623A= (p.Lys1208=)
c.3620A= (p.Lys1207=)
c.3539A= (p.Lys1180=)
c.3470A= (p.Lys1157=)
c.3338A= (p.Lys1113=)
c.3206A= (p.Lys1069=)
20g.32436071A>CCA408562897ASXL1c.3359A>C (p.Lys1120Thr)
c.3176A>C (p.Lys1059Thr)
n.5712A>C
c.1869+1490A>C (n.1869+1490A>C)
c.3344A>C (p.Lys1115Thr)
c.3356A>C (p.Lys1119Thr)
c.3329A>C (p.Lys1110Thr)
c.3275A>C (p.Lys1092Thr)
c.2675A>C (p.Lys892Thr)
c.3623A>C (p.Lys1208Thr)
c.3620A>C (p.Lys1207Thr)
c.3539A>C (p.Lys1180Thr)
c.3470A>C (p.Lys1157Thr)
c.3338A>C (p.Lys1113Thr)
c.3206A>C (p.Lys1069Thr)
20g.32436071A>GCA408562896ASXL1c.3359A>G (p.Lys1120Arg)
c.3176A>G (p.Lys1059Arg)
n.5712A>G
c.1869+1490A>G (n.1869+1490A>G)
c.3344A>G (p.Lys1115Arg)
c.3356A>G (p.Lys1119Arg)
c.3329A>G (p.Lys1110Arg)
c.3275A>G (p.Lys1092Arg)
c.2675A>G (p.Lys892Arg)
c.3623A>G (p.Lys1208Arg)
c.3620A>G (p.Lys1207Arg)
c.3539A>G (p.Lys1180Arg)
c.3470A>G (p.Lys1157Arg)
c.3338A>G (p.Lys1113Arg)
c.3206A>G (p.Lys1069Arg)
20g.32436071A>TCA9808800ASXL1c.3359A>T (p.Lys1120Met)
c.3176A>T (p.Lys1059Met)
n.5712A>T
c.1869+1490A>T (n.1869+1490A>T)
c.3344A>T (p.Lys1115Met)
c.3356A>T (p.Lys1119Met)
c.3329A>T (p.Lys1110Met)
c.3275A>T (p.Lys1092Met)
c.2675A>T (p.Lys892Met)
c.3623A>T (p.Lys1208Met)
c.3620A>T (p.Lys1207Met)
c.3539A>T (p.Lys1180Met)
c.3470A>T (p.Lys1157Met)
c.3338A>T (p.Lys1113Met)
c.3206A>T (p.Lys1069Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436072G>ACA10643726ASXL1c.3360G>A (p.Lys1120=)
c.3177G>A (p.Lys1059=)
n.5713G>A
c.1869+1491G>A (n.1869+1491G>A)
c.3345G>A (p.Lys1115=)
c.3357G>A (p.Lys1119=)
c.3330G>A (p.Lys1110=)
c.3276G>A (p.Lys1092=)
c.2676G>A (p.Lys892=)
c.3624G>A (p.Lys1208=)
c.3621G>A (p.Lys1207=)
c.3540G>A (p.Lys1180=)
c.3471G>A (p.Lys1157=)
c.3339G>A (p.Lys1113=)
c.3207G>A (p.Lys1069=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436072G>CCA408562898ASXL1c.3360G>C (p.Lys1120Asn)
c.3177G>C (p.Lys1059Asn)
n.5713G>C
c.1869+1491G>C (n.1869+1491G>C)
c.3345G>C (p.Lys1115Asn)
c.3357G>C (p.Lys1119Asn)
c.3330G>C (p.Lys1110Asn)
c.3276G>C (p.Lys1092Asn)
c.2676G>C (p.Lys892Asn)
c.3624G>C (p.Lys1208Asn)
c.3621G>C (p.Lys1207Asn)
c.3540G>C (p.Lys1180Asn)
c.3471G>C (p.Lys1157Asn)
c.3339G>C (p.Lys1113Asn)
c.3207G>C (p.Lys1069Asn)
 ClinVar gnomAD v4
20g.32436072G=CA2360293519ASXL1c.3360G= (p.Lys1120=)
c.3177G= (p.Lys1059=)
n.5713G=
c.1869+1491G= (n.1869+1491G=)
c.3345G= (p.Lys1115=)
c.3357G= (p.Lys1119=)
c.3330G= (p.Lys1110=)
c.3276G= (p.Lys1092=)
c.2676G= (p.Lys892=)
c.3624G= (p.Lys1208=)
c.3621G= (p.Lys1207=)
c.3540G= (p.Lys1180=)
c.3471G= (p.Lys1157=)
c.3339G= (p.Lys1113=)
c.3207G= (p.Lys1069=)
20g.32436072G>TCA408562899ASXL1c.3360G>T (p.Lys1120Asn)
c.3177G>T (p.Lys1059Asn)
n.5713G>T
c.1869+1491G>T (n.1869+1491G>T)
c.3345G>T (p.Lys1115Asn)
c.3357G>T (p.Lys1119Asn)
c.3330G>T (p.Lys1110Asn)
c.3276G>T (p.Lys1092Asn)
c.2676G>T (p.Lys892Asn)
c.3624G>T (p.Lys1208Asn)
c.3621G>T (p.Lys1207Asn)
c.3540G>T (p.Lys1180Asn)
c.3471G>T (p.Lys1157Asn)
c.3339G>T (p.Lys1113Asn)
c.3207G>T (p.Lys1069Asn)
20g.32436073G>ACA313926343ASXL1c.3361G>A (p.Val1121Ile)
c.3178G>A (p.Val1060Ile)
n.5714G>A
c.1869+1492G>A (n.1869+1492G>A)
c.3346G>A (p.Val1116Ile)
c.3358G>A (p.Val1120Ile)
c.3331G>A (p.Val1111Ile)
c.3277G>A (p.Val1093Ile)
c.2677G>A (p.Val893Ile)
c.3625G>A (p.Val1209Ile)
c.3622G>A (p.Val1208Ile)
c.3541G>A (p.Val1181Ile)
c.3472G>A (p.Val1158Ile)
c.3340G>A (p.Val1114Ile)
c.3208G>A (p.Val1070Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.32436073G>CCA408562900ASXL1c.3361G>C (p.Val1121Leu)
c.3178G>C (p.Val1060Leu)
n.5714G>C
c.1869+1492G>C (n.1869+1492G>C)
c.3346G>C (p.Val1116Leu)
c.3358G>C (p.Val1120Leu)
c.3331G>C (p.Val1111Leu)
c.3277G>C (p.Val1093Leu)
c.2677G>C (p.Val893Leu)
c.3625G>C (p.Val1209Leu)
c.3622G>C (p.Val1208Leu)
c.3541G>C (p.Val1181Leu)
c.3472G>C (p.Val1158Leu)
c.3340G>C (p.Val1114Leu)
c.3208G>C (p.Val1070Leu)
 dbSNP
20g.32436073G=CA2360293520ASXL1c.3361G= (p.Val1121=)
c.3178G= (p.Val1060=)
n.5714G=
c.1869+1492G= (n.1869+1492G=)
c.3346G= (p.Val1116=)
c.3358G= (p.Val1120=)
c.3331G= (p.Val1111=)
c.3277G= (p.Val1093=)
c.2677G= (p.Val893=)
c.3625G= (p.Val1209=)
c.3622G= (p.Val1208=)
c.3541G= (p.Val1181=)
c.3472G= (p.Val1158=)
c.3340G= (p.Val1114=)
c.3208G= (p.Val1070=)
20g.32436073G>TCA408562901ASXL1c.3361G>T (p.Val1121Phe)
c.3178G>T (p.Val1060Phe)
n.5714G>T
c.1869+1492G>T (n.1869+1492G>T)
c.3346G>T (p.Val1116Phe)
c.3358G>T (p.Val1120Phe)
c.3331G>T (p.Val1111Phe)
c.3277G>T (p.Val1093Phe)
c.2677G>T (p.Val893Phe)
c.3625G>T (p.Val1209Phe)
c.3622G>T (p.Val1208Phe)
c.3541G>T (p.Val1181Phe)
c.3472G>T (p.Val1158Phe)
c.3340G>T (p.Val1114Phe)
c.3208G>T (p.Val1070Phe)
20g.32436074T>ACA408562904ASXL1c.3362T>A (p.Val1121Asp)
c.3179T>A (p.Val1060Asp)
n.5715T>A
c.1869+1493T>A (n.1869+1493T>A)
c.3347T>A (p.Val1116Asp)
c.3359T>A (p.Val1120Asp)
c.3332T>A (p.Val1111Asp)
c.3278T>A (p.Val1093Asp)
c.2678T>A (p.Val893Asp)
c.3626T>A (p.Val1209Asp)
c.3623T>A (p.Val1208Asp)
c.3542T>A (p.Val1181Asp)
c.3473T>A (p.Val1158Asp)
c.3341T>A (p.Val1114Asp)
c.3209T>A (p.Val1070Asp)
20g.32436074T>CCA408562903ASXL1c.3362T>C (p.Val1121Ala)
c.3179T>C (p.Val1060Ala)
n.5715T>C
c.1869+1493T>C (n.1869+1493T>C)
c.3347T>C (p.Val1116Ala)
c.3359T>C (p.Val1120Ala)
c.3332T>C (p.Val1111Ala)
c.3278T>C (p.Val1093Ala)
c.2678T>C (p.Val893Ala)
c.3626T>C (p.Val1209Ala)
c.3623T>C (p.Val1208Ala)
c.3542T>C (p.Val1181Ala)
c.3473T>C (p.Val1158Ala)
c.3341T>C (p.Val1114Ala)
c.3209T>C (p.Val1070Ala)
20g.32436074T>GCA408562902ASXL1c.3362T>G (p.Val1121Gly)
c.3179T>G (p.Val1060Gly)
n.5715T>G
c.1869+1493T>G (n.1869+1493T>G)
c.3347T>G (p.Val1116Gly)
c.3359T>G (p.Val1120Gly)
c.3332T>G (p.Val1111Gly)
c.3278T>G (p.Val1093Gly)
c.2678T>G (p.Val893Gly)
c.3626T>G (p.Val1209Gly)
c.3623T>G (p.Val1208Gly)
c.3542T>G (p.Val1181Gly)
c.3473T>G (p.Val1158Gly)
c.3341T>G (p.Val1114Gly)
c.3209T>G (p.Val1070Gly)
 dbSNP
20g.32436075T>ACA510467151ASXL1c.3363T>A (p.Val1121=)
c.3180T>A (p.Val1060=)
n.5716T>A
c.1869+1494T>A (n.1869+1494T>A)
c.3348T>A (p.Val1116=)
c.3360T>A (p.Val1120=)
c.3333T>A (p.Val1111=)
c.3279T>A (p.Val1093=)
c.2679T>A (p.Val893=)
c.3627T>A (p.Val1209=)
c.3624T>A (p.Val1208=)
c.3543T>A (p.Val1181=)
c.3474T>A (p.Val1158=)
c.3342T>A (p.Val1114=)
c.3210T>A (p.Val1070=)
20g.32436075T>CCA510467153ASXL1c.3363T>C (p.Val1121=)
c.3180T>C (p.Val1060=)
n.5716T>C
c.1869+1494T>C (n.1869+1494T>C)
c.3348T>C (p.Val1116=)
c.3360T>C (p.Val1120=)
c.3333T>C (p.Val1111=)
c.3279T>C (p.Val1093=)
c.2679T>C (p.Val893=)
c.3627T>C (p.Val1209=)
c.3624T>C (p.Val1208=)
c.3543T>C (p.Val1181=)
c.3474T>C (p.Val1158=)
c.3342T>C (p.Val1114=)
c.3210T>C (p.Val1070=)
20g.32436075T>GCA510467152ASXL1c.3363T>G (p.Val1121=)
c.3180T>G (p.Val1060=)
n.5716T>G
c.1869+1494T>G (n.1869+1494T>G)
c.3348T>G (p.Val1116=)
c.3360T>G (p.Val1120=)
c.3333T>G (p.Val1111=)
c.3279T>G (p.Val1093=)
c.2679T>G (p.Val893=)
c.3627T>G (p.Val1209=)
c.3624T>G (p.Val1208=)
c.3543T>G (p.Val1181=)
c.3474T>G (p.Val1158=)
c.3342T>G (p.Val1114=)
c.3210T>G (p.Val1070=)
20g.32436076C>ACA408562905ASXL1c.3364C>A (p.Leu1122Ile)
c.3181C>A (p.Leu1061Ile)
n.5717C>A
c.1869+1495C>A (n.1869+1495C>A)
c.3349C>A (p.Leu1117Ile)
c.3361C>A (p.Leu1121Ile)
c.3334C>A (p.Leu1112Ile)
c.3280C>A (p.Leu1094Ile)
c.2680C>A (p.Leu894Ile)
c.3628C>A (p.Leu1210Ile)
c.3625C>A (p.Leu1209Ile)
c.3544C>A (p.Leu1182Ile)
c.3475C>A (p.Leu1159Ile)
c.3343C>A (p.Leu1115Ile)
c.3211C>A (p.Leu1071Ile)
 dbSNP gnomAD v3 gnomAD v4
20g.32436076C=CA2360293521ASXL1c.3364C= (p.Leu1122=)
c.3181C= (p.Leu1061=)
n.5717C=
c.1869+1495C= (n.1869+1495C=)
c.3349C= (p.Leu1117=)
c.3361C= (p.Leu1121=)
c.3334C= (p.Leu1112=)
c.3280C= (p.Leu1094=)
c.2680C= (p.Leu894=)
c.3628C= (p.Leu1210=)
c.3625C= (p.Leu1209=)
c.3544C= (p.Leu1182=)
c.3475C= (p.Leu1159=)
c.3343C= (p.Leu1115=)
c.3211C= (p.Leu1071=)
20g.32436076C>GCA408562906ASXL1c.3364C>G (p.Leu1122Val)
c.3181C>G (p.Leu1061Val)
n.5717C>G
c.1869+1495C>G (n.1869+1495C>G)
c.3349C>G (p.Leu1117Val)
c.3361C>G (p.Leu1121Val)
c.3334C>G (p.Leu1112Val)
c.3280C>G (p.Leu1094Val)
c.2680C>G (p.Leu894Val)
c.3628C>G (p.Leu1210Val)
c.3625C>G (p.Leu1209Val)
c.3544C>G (p.Leu1182Val)
c.3475C>G (p.Leu1159Val)
c.3343C>G (p.Leu1115Val)
c.3211C>G (p.Leu1071Val)
20g.32436076C>TCA408562907ASXL1c.3364C>T (p.Leu1122Phe)
c.3181C>T (p.Leu1061Phe)
n.5717C>T
c.1869+1495C>T (n.1869+1495C>T)
c.3349C>T (p.Leu1117Phe)
c.3361C>T (p.Leu1121Phe)
c.3334C>T (p.Leu1112Phe)
c.3280C>T (p.Leu1094Phe)
c.2680C>T (p.Leu894Phe)
c.3628C>T (p.Leu1210Phe)
c.3625C>T (p.Leu1209Phe)
c.3544C>T (p.Leu1182Phe)
c.3475C>T (p.Leu1159Phe)
c.3343C>T (p.Leu1115Phe)
c.3211C>T (p.Leu1071Phe)
 dbSNP
20g.32436077T>ACA408562908ASXL1c.3365T>A (p.Leu1122His)
c.3182T>A (p.Leu1061His)
n.5718T>A
c.1869+1496T>A (n.1869+1496T>A)
c.3350T>A (p.Leu1117His)
c.3362T>A (p.Leu1121His)
c.3335T>A (p.Leu1112His)
c.3281T>A (p.Leu1094His)
c.2681T>A (p.Leu894His)
c.3629T>A (p.Leu1210His)
c.3626T>A (p.Leu1209His)
c.3545T>A (p.Leu1182His)
c.3476T>A (p.Leu1159His)
c.3344T>A (p.Leu1115His)
c.3212T>A (p.Leu1071His)
20g.32436077T>CCA408562909ASXL1c.3365T>C (p.Leu1122Pro)
c.3182T>C (p.Leu1061Pro)
n.5718T>C
c.1869+1496T>C (n.1869+1496T>C)
c.3350T>C (p.Leu1117Pro)
c.3362T>C (p.Leu1121Pro)
c.3335T>C (p.Leu1112Pro)
c.3281T>C (p.Leu1094Pro)
c.2681T>C (p.Leu894Pro)
c.3629T>C (p.Leu1210Pro)
c.3626T>C (p.Leu1209Pro)
c.3545T>C (p.Leu1182Pro)
c.3476T>C (p.Leu1159Pro)
c.3344T>C (p.Leu1115Pro)
c.3212T>C (p.Leu1071Pro)
20g.32436077T>GCA408562910ASXL1c.3365T>G (p.Leu1122Arg)
c.3182T>G (p.Leu1061Arg)
n.5718T>G
c.1869+1496T>G (n.1869+1496T>G)
c.3350T>G (p.Leu1117Arg)
c.3362T>G (p.Leu1121Arg)
c.3335T>G (p.Leu1112Arg)
c.3281T>G (p.Leu1094Arg)
c.2681T>G (p.Leu894Arg)
c.3629T>G (p.Leu1210Arg)
c.3626T>G (p.Leu1209Arg)
c.3545T>G (p.Leu1182Arg)
c.3476T>G (p.Leu1159Arg)
c.3344T>G (p.Leu1115Arg)
c.3212T>G (p.Leu1071Arg)
20g.32436078T>ACA510467157ASXL1c.3366T>A (p.Leu1122=)
c.3183T>A (p.Leu1061=)
n.5719T>A
c.1869+1497T>A (n.1869+1497T>A)
c.3351T>A (p.Leu1117=)
c.3363T>A (p.Leu1121=)
c.3336T>A (p.Leu1112=)
c.3282T>A (p.Leu1094=)
c.2682T>A (p.Leu894=)
c.3630T>A (p.Leu1210=)
c.3627T>A (p.Leu1209=)
c.3546T>A (p.Leu1182=)
c.3477T>A (p.Leu1159=)
c.3345T>A (p.Leu1115=)
c.3213T>A (p.Leu1071=)
20g.32436078T>CCA510467158ASXL1c.3366T>C (p.Leu1122=)
c.3183T>C (p.Leu1061=)
n.5719T>C
c.1869+1497T>C (n.1869+1497T>C)
c.3351T>C (p.Leu1117=)
c.3363T>C (p.Leu1121=)
c.3336T>C (p.Leu1112=)
c.3282T>C (p.Leu1094=)
c.2682T>C (p.Leu894=)
c.3630T>C (p.Leu1210=)
c.3627T>C (p.Leu1209=)
c.3546T>C (p.Leu1182=)
c.3477T>C (p.Leu1159=)
c.3345T>C (p.Leu1115=)
c.3213T>C (p.Leu1071=)
20g.32436078T>GCA510467159ASXL1c.3366T>G (p.Leu1122=)
c.3183T>G (p.Leu1061=)
n.5719T>G
c.1869+1497T>G (n.1869+1497T>G)
c.3351T>G (p.Leu1117=)
c.3363T>G (p.Leu1121=)
c.3336T>G (p.Leu1112=)
c.3282T>G (p.Leu1094=)
c.2682T>G (p.Leu894=)
c.3630T>G (p.Leu1210=)
c.3627T>G (p.Leu1209=)
c.3546T>G (p.Leu1182=)
c.3477T>G (p.Leu1159=)
c.3345T>G (p.Leu1115=)
c.3213T>G (p.Leu1071=)
20g.32436079C>ACA408562911ASXL1c.3367C>A (p.Pro1123Thr)
c.3184C>A (p.Pro1062Thr)
n.5720C>A
c.1869+1498C>A (n.1869+1498C>A)
c.3352C>A (p.Pro1118Thr)
c.3364C>A (p.Pro1122Thr)
c.3337C>A (p.Pro1113Thr)
c.3283C>A (p.Pro1095Thr)
c.2683C>A (p.Pro895Thr)
c.3631C>A (p.Pro1211Thr)
c.3628C>A (p.Pro1210Thr)
c.3547C>A (p.Pro1183Thr)
c.3478C>A (p.Pro1160Thr)
c.3346C>A (p.Pro1116Thr)
c.3214C>A (p.Pro1072Thr)
20g.32436079C>GCA408562913ASXL1c.3367C>G (p.Pro1123Ala)
c.3184C>G (p.Pro1062Ala)
n.5720C>G
c.1869+1498C>G (n.1869+1498C>G)
c.3352C>G (p.Pro1118Ala)
c.3364C>G (p.Pro1122Ala)
c.3337C>G (p.Pro1113Ala)
c.3283C>G (p.Pro1095Ala)
c.2683C>G (p.Pro895Ala)
c.3631C>G (p.Pro1211Ala)
c.3628C>G (p.Pro1210Ala)
c.3547C>G (p.Pro1183Ala)
c.3478C>G (p.Pro1160Ala)
c.3346C>G (p.Pro1116Ala)
c.3214C>G (p.Pro1072Ala)
20g.32436079C>TCA408562912ASXL1c.3367C>T (p.Pro1123Ser)
c.3184C>T (p.Pro1062Ser)
n.5720C>T
c.1869+1498C>T (n.1869+1498C>T)
c.3352C>T (p.Pro1118Ser)
c.3364C>T (p.Pro1122Ser)
c.3337C>T (p.Pro1113Ser)
c.3283C>T (p.Pro1095Ser)
c.2683C>T (p.Pro895Ser)
c.3631C>T (p.Pro1211Ser)
c.3628C>T (p.Pro1210Ser)
c.3547C>T (p.Pro1183Ser)
c.3478C>T (p.Pro1160Ser)
c.3346C>T (p.Pro1116Ser)
c.3214C>T (p.Pro1072Ser)
 ClinVar gnomAD v4
20g.32436080delCA2652401192ASXL1c.3368del (p.Pro1123HisfsTer?)
c.3185del (p.Pro1062HisfsTer?)
n.5721del
c.1869+1499del (n.1869+1499del)
c.3353del (p.Pro1118HisfsTer?)
c.3365del (p.Pro1122HisfsTer?)
c.3338del (p.Pro1113HisfsTer?)
c.3284del (p.Pro1095HisfsTer?)
c.2684del (p.Pro895HisfsTer?)
c.3632del (p.Pro1211HisfsTer?)
c.3629del (p.Pro1210HisfsTer?)
c.3548del (p.Pro1183HisfsTer?)
c.3479del (p.Pro1160HisfsTer?)
c.3347del (p.Pro1116HisfsTer?)
c.3215del (p.Pro1072HisfsTer?)
 gnomAD v4
20g.32436080C>ACA408562914ASXL1c.3368C>A (p.Pro1123Gln)
c.3185C>A (p.Pro1062Gln)
n.5721C>A
c.1869+1499C>A (n.1869+1499C>A)
c.3353C>A (p.Pro1118Gln)
c.3365C>A (p.Pro1122Gln)
c.3338C>A (p.Pro1113Gln)
c.3284C>A (p.Pro1095Gln)
c.2684C>A (p.Pro895Gln)
c.3632C>A (p.Pro1211Gln)
c.3629C>A (p.Pro1210Gln)
c.3548C>A (p.Pro1183Gln)
c.3479C>A (p.Pro1160Gln)
c.3347C>A (p.Pro1116Gln)
c.3215C>A (p.Pro1072Gln)
20g.32436080C=CA2360293522ASXL1c.3368C= (p.Pro1123=)
c.3185C= (p.Pro1062=)
n.5721C=
c.1869+1499C= (n.1869+1499C=)
c.3353C= (p.Pro1118=)
c.3365C= (p.Pro1122=)
c.3338C= (p.Pro1113=)
c.3284C= (p.Pro1095=)
c.2684C= (p.Pro895=)
c.3632C= (p.Pro1211=)
c.3629C= (p.Pro1210=)
c.3548C= (p.Pro1183=)
c.3479C= (p.Pro1160=)
c.3347C= (p.Pro1116=)
c.3215C= (p.Pro1072=)
20g.32436080C>GCA408562915ASXL1c.3368C>G (p.Pro1123Arg)
c.3185C>G (p.Pro1062Arg)
n.5721C>G
c.1869+1499C>G (n.1869+1499C>G)
c.3353C>G (p.Pro1118Arg)
c.3365C>G (p.Pro1122Arg)
c.3338C>G (p.Pro1113Arg)
c.3284C>G (p.Pro1095Arg)
c.2684C>G (p.Pro895Arg)
c.3632C>G (p.Pro1211Arg)
c.3629C>G (p.Pro1210Arg)
c.3548C>G (p.Pro1183Arg)
c.3479C>G (p.Pro1160Arg)
c.3347C>G (p.Pro1116Arg)
c.3215C>G (p.Pro1072Arg)
 dbSNP
20g.32436080C>TCA9808801ASXL1c.3368C>T (p.Pro1123Leu)
c.3185C>T (p.Pro1062Leu)
n.5721C>T
c.1869+1499C>T (n.1869+1499C>T)
c.3353C>T (p.Pro1118Leu)
c.3365C>T (p.Pro1122Leu)
c.3338C>T (p.Pro1113Leu)
c.3284C>T (p.Pro1095Leu)
c.2684C>T (p.Pro895Leu)
c.3632C>T (p.Pro1211Leu)
c.3629C>T (p.Pro1210Leu)
c.3548C>T (p.Pro1183Leu)
c.3479C>T (p.Pro1160Leu)
c.3347C>T (p.Pro1116Leu)
c.3215C>T (p.Pro1072Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436081A>CCA510467165ASXL1c.3369A>C (p.Pro1123=)
c.3186A>C (p.Pro1062=)
n.5722A>C
c.1869+1500A>C (n.1869+1500A>C)
c.3354A>C (p.Pro1118=)
c.3366A>C (p.Pro1122=)
c.3339A>C (p.Pro1113=)
c.3285A>C (p.Pro1095=)
c.2685A>C (p.Pro895=)
c.3633A>C (p.Pro1211=)
c.3630A>C (p.Pro1210=)
c.3549A>C (p.Pro1183=)
c.3480A>C (p.Pro1160=)
c.3348A>C (p.Pro1116=)
c.3216A>C (p.Pro1072=)
20g.32436081A>GCA510467167ASXL1c.3369A>G (p.Pro1123=)
c.3186A>G (p.Pro1062=)
n.5722A>G
c.1869+1500A>G (n.1869+1500A>G)
c.3354A>G (p.Pro1118=)
c.3366A>G (p.Pro1122=)
c.3339A>G (p.Pro1113=)
c.3285A>G (p.Pro1095=)
c.2685A>G (p.Pro895=)
c.3633A>G (p.Pro1211=)
c.3630A>G (p.Pro1210=)
c.3549A>G (p.Pro1183=)
c.3480A>G (p.Pro1160=)
c.3348A>G (p.Pro1116=)
c.3216A>G (p.Pro1072=)
 gnomAD v4
20g.32436081A>TCA510467168ASXL1c.3369A>T (p.Pro1123=)
c.3186A>T (p.Pro1062=)
n.5722A>T
c.1869+1500A>T (n.1869+1500A>T)
c.3354A>T (p.Pro1118=)
c.3366A>T (p.Pro1122=)
c.3339A>T (p.Pro1113=)
c.3285A>T (p.Pro1095=)
c.2685A>T (p.Pro895=)
c.3633A>T (p.Pro1211=)
c.3630A>T (p.Pro1210=)
c.3549A>T (p.Pro1183=)
c.3480A>T (p.Pro1160=)
c.3348A>T (p.Pro1116=)
c.3216A>T (p.Pro1072=)
20g.32436082C>ACA408562916ASXL1c.3370C>A (p.Pro1124Thr)
c.3187C>A (p.Pro1063Thr)
n.5723C>A
c.1869+1501C>A (n.1869+1501C>A)
c.3355C>A (p.Pro1119Thr)
c.3367C>A (p.Pro1123Thr)
c.3340C>A (p.Pro1114Thr)
c.3286C>A (p.Pro1096Thr)
c.2686C>A (p.Pro896Thr)
c.3634C>A (p.Pro1212Thr)
c.3631C>A (p.Pro1211Thr)
c.3550C>A (p.Pro1184Thr)
c.3481C>A (p.Pro1161Thr)
c.3349C>A (p.Pro1117Thr)
c.3217C>A (p.Pro1073Thr)
20g.32436082C=CA2360293523ASXL1c.3370C= (p.Pro1124=)
c.3187C= (p.Pro1063=)
n.5723C=
c.1869+1501C= (n.1869+1501C=)
c.3355C= (p.Pro1119=)
c.3367C= (p.Pro1123=)
c.3340C= (p.Pro1114=)
c.3286C= (p.Pro1096=)
c.2686C= (p.Pro896=)
c.3634C= (p.Pro1212=)
c.3631C= (p.Pro1211=)
c.3550C= (p.Pro1184=)
c.3481C= (p.Pro1161=)
c.3349C= (p.Pro1117=)
c.3217C= (p.Pro1073=)
20g.32436082C>GCA408562917ASXL1c.3370C>G (p.Pro1124Ala)
c.3187C>G (p.Pro1063Ala)
n.5723C>G
c.1869+1501C>G (n.1869+1501C>G)
c.3355C>G (p.Pro1119Ala)
c.3367C>G (p.Pro1123Ala)
c.3340C>G (p.Pro1114Ala)
c.3286C>G (p.Pro1096Ala)
c.2686C>G (p.Pro896Ala)
c.3634C>G (p.Pro1212Ala)
c.3631C>G (p.Pro1211Ala)
c.3550C>G (p.Pro1184Ala)
c.3481C>G (p.Pro1161Ala)
c.3349C>G (p.Pro1117Ala)
c.3217C>G (p.Pro1073Ala)
 ClinVar
20g.32436082C>TCA9808802ASXL1c.3370C>T (p.Pro1124Ser)
c.3187C>T (p.Pro1063Ser)
n.5723C>T
c.1869+1501C>T (n.1869+1501C>T)
c.3355C>T (p.Pro1119Ser)
c.3367C>T (p.Pro1123Ser)
c.3340C>T (p.Pro1114Ser)
c.3286C>T (p.Pro1096Ser)
c.2686C>T (p.Pro896Ser)
c.3634C>T (p.Pro1212Ser)
c.3631C>T (p.Pro1211Ser)
c.3550C>T (p.Pro1184Ser)
c.3481C>T (p.Pro1161Ser)
c.3349C>T (p.Pro1117Ser)
c.3217C>T (p.Pro1073Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436083C>ACA408562918ASXL1c.3371C>A (p.Pro1124Gln)
c.3188C>A (p.Pro1063Gln)
n.5724C>A
c.1869+1502C>A (n.1869+1502C>A)
c.3356C>A (p.Pro1119Gln)
c.3368C>A (p.Pro1123Gln)
c.3341C>A (p.Pro1114Gln)
c.3287C>A (p.Pro1096Gln)
c.2687C>A (p.Pro896Gln)
c.3635C>A (p.Pro1212Gln)
c.3632C>A (p.Pro1211Gln)
c.3551C>A (p.Pro1184Gln)
c.3482C>A (p.Pro1161Gln)
c.3350C>A (p.Pro1117Gln)
c.3218C>A (p.Pro1073Gln)
 dbSNP
20g.32436083C=CA2360293524ASXL1c.3371C= (p.Pro1124=)
c.3188C= (p.Pro1063=)
n.5724C=
c.1869+1502C= (n.1869+1502C=)
c.3356C= (p.Pro1119=)
c.3368C= (p.Pro1123=)
c.3341C= (p.Pro1114=)
c.3287C= (p.Pro1096=)
c.2687C= (p.Pro896=)
c.3635C= (p.Pro1212=)
c.3632C= (p.Pro1211=)
c.3551C= (p.Pro1184=)
c.3482C= (p.Pro1161=)
c.3350C= (p.Pro1117=)
c.3218C= (p.Pro1073=)
20g.32436083C>GCA408562919ASXL1c.3371C>G (p.Pro1124Arg)
c.3188C>G (p.Pro1063Arg)
n.5724C>G
c.1869+1502C>G (n.1869+1502C>G)
c.3356C>G (p.Pro1119Arg)
c.3368C>G (p.Pro1123Arg)
c.3341C>G (p.Pro1114Arg)
c.3287C>G (p.Pro1096Arg)
c.2687C>G (p.Pro896Arg)
c.3635C>G (p.Pro1212Arg)
c.3632C>G (p.Pro1211Arg)
c.3551C>G (p.Pro1184Arg)
c.3482C>G (p.Pro1161Arg)
c.3350C>G (p.Pro1117Arg)
c.3218C>G (p.Pro1073Arg)
 dbSNP gnomAD v4
20g.32436083C>TCA9808803ASXL1c.3371C>T (p.Pro1124Leu)
c.3188C>T (p.Pro1063Leu)
n.5724C>T
c.1869+1502C>T (n.1869+1502C>T)
c.3356C>T (p.Pro1119Leu)
c.3368C>T (p.Pro1123Leu)
c.3341C>T (p.Pro1114Leu)
c.3287C>T (p.Pro1096Leu)
c.2687C>T (p.Pro896Leu)
c.3635C>T (p.Pro1212Leu)
c.3632C>T (p.Pro1211Leu)
c.3551C>T (p.Pro1184Leu)
c.3482C>T (p.Pro1161Leu)
c.3350C>T (p.Pro1117Leu)
c.3218C>T (p.Pro1073Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436084A>CCA510467172ASXL1c.3372A>C (p.Pro1124=)
c.3189A>C (p.Pro1063=)
n.5725A>C
c.1869+1503A>C (n.1869+1503A>C)
c.3357A>C (p.Pro1119=)
c.3369A>C (p.Pro1123=)
c.3342A>C (p.Pro1114=)
c.3288A>C (p.Pro1096=)
c.2688A>C (p.Pro896=)
c.3636A>C (p.Pro1212=)
c.3633A>C (p.Pro1211=)
c.3552A>C (p.Pro1184=)
c.3483A>C (p.Pro1161=)
c.3351A>C (p.Pro1117=)
c.3219A>C (p.Pro1073=)
20g.32436084A>GCA510467173ASXL1c.3372A>G (p.Pro1124=)
c.3189A>G (p.Pro1063=)
n.5725A>G
c.1869+1503A>G (n.1869+1503A>G)
c.3357A>G (p.Pro1119=)
c.3369A>G (p.Pro1123=)
c.3342A>G (p.Pro1114=)
c.3288A>G (p.Pro1096=)
c.2688A>G (p.Pro896=)
c.3636A>G (p.Pro1212=)
c.3633A>G (p.Pro1211=)
c.3552A>G (p.Pro1184=)
c.3483A>G (p.Pro1161=)
c.3351A>G (p.Pro1117=)
c.3219A>G (p.Pro1073=)
20g.32436084A>TCA510467174ASXL1c.3372A>T (p.Pro1124=)
c.3189A>T (p.Pro1063=)
n.5725A>T
c.1869+1503A>T (n.1869+1503A>T)
c.3357A>T (p.Pro1119=)
c.3369A>T (p.Pro1123=)
c.3342A>T (p.Pro1114=)
c.3288A>T (p.Pro1096=)
c.2688A>T (p.Pro896=)
c.3636A>T (p.Pro1212=)
c.3633A>T (p.Pro1211=)
c.3552A>T (p.Pro1184=)
c.3483A>T (p.Pro1161=)
c.3351A>T (p.Pro1117=)
c.3219A>T (p.Pro1073=)
20g.32436085G>ACA408562920ASXL1c.3373G>A (p.Ala1125Thr)
c.3190G>A (p.Ala1064Thr)
n.5726G>A
c.1869+1504G>A (n.1869+1504G>A)
c.3358G>A (p.Ala1120Thr)
c.3370G>A (p.Ala1124Thr)
c.3343G>A (p.Ala1115Thr)
c.3289G>A (p.Ala1097Thr)
c.2689G>A (p.Ala897Thr)
c.3637G>A (p.Ala1213Thr)
c.3634G>A (p.Ala1212Thr)
c.3553G>A (p.Ala1185Thr)
c.3484G>A (p.Ala1162Thr)
c.3352G>A (p.Ala1118Thr)
c.3220G>A (p.Ala1074Thr)
 dbSNP
20g.32436085G>CCA408562921ASXL1c.3373G>C (p.Ala1125Pro)
c.3190G>C (p.Ala1064Pro)
n.5726G>C
c.1869+1504G>C (n.1869+1504G>C)
c.3358G>C (p.Ala1120Pro)
c.3370G>C (p.Ala1124Pro)
c.3343G>C (p.Ala1115Pro)
c.3289G>C (p.Ala1097Pro)
c.2689G>C (p.Ala897Pro)
c.3637G>C (p.Ala1213Pro)
c.3634G>C (p.Ala1212Pro)
c.3553G>C (p.Ala1185Pro)
c.3484G>C (p.Ala1162Pro)
c.3352G>C (p.Ala1118Pro)
c.3220G>C (p.Ala1074Pro)
 dbSNP
20g.32436085G>TCA408562922ASXL1c.3373G>T (p.Ala1125Ser)
c.3190G>T (p.Ala1064Ser)
n.5726G>T
c.1869+1504G>T (n.1869+1504G>T)
c.3358G>T (p.Ala1120Ser)
c.3370G>T (p.Ala1124Ser)
c.3343G>T (p.Ala1115Ser)
c.3289G>T (p.Ala1097Ser)
c.2689G>T (p.Ala897Ser)
c.3637G>T (p.Ala1213Ser)
c.3634G>T (p.Ala1212Ser)
c.3553G>T (p.Ala1185Ser)
c.3484G>T (p.Ala1162Ser)
c.3352G>T (p.Ala1118Ser)
c.3220G>T (p.Ala1074Ser)
20g.32436086C>ACA408562923ASXL1c.3374C>A (p.Ala1125Asp)
c.3191C>A (p.Ala1064Asp)
n.5727C>A
c.1869+1505C>A (n.1869+1505C>A)
c.3359C>A (p.Ala1120Asp)
c.3371C>A (p.Ala1124Asp)
c.3344C>A (p.Ala1115Asp)
c.3290C>A (p.Ala1097Asp)
c.2690C>A (p.Ala897Asp)
c.3638C>A (p.Ala1213Asp)
c.3635C>A (p.Ala1212Asp)
c.3554C>A (p.Ala1185Asp)
c.3485C>A (p.Ala1162Asp)
c.3353C>A (p.Ala1118Asp)
c.3221C>A (p.Ala1074Asp)
20g.32436086C=CA2360293525ASXL1c.3374C= (p.Ala1125=)
c.3191C= (p.Ala1064=)
n.5727C=
c.1869+1505C= (n.1869+1505C=)
c.3359C= (p.Ala1120=)
c.3371C= (p.Ala1124=)
c.3344C= (p.Ala1115=)
c.3290C= (p.Ala1097=)
c.2690C= (p.Ala897=)
c.3638C= (p.Ala1213=)
c.3635C= (p.Ala1212=)
c.3554C= (p.Ala1185=)
c.3485C= (p.Ala1162=)
c.3353C= (p.Ala1118=)
c.3221C= (p.Ala1074=)
20g.32436086C>GCA408562925ASXL1c.3374C>G (p.Ala1125Gly)
c.3191C>G (p.Ala1064Gly)
n.5727C>G
c.1869+1505C>G (n.1869+1505C>G)
c.3359C>G (p.Ala1120Gly)
c.3371C>G (p.Ala1124Gly)
c.3344C>G (p.Ala1115Gly)
c.3290C>G (p.Ala1097Gly)
c.2690C>G (p.Ala897Gly)
c.3638C>G (p.Ala1213Gly)
c.3635C>G (p.Ala1212Gly)
c.3554C>G (p.Ala1185Gly)
c.3485C>G (p.Ala1162Gly)
c.3353C>G (p.Ala1118Gly)
c.3221C>G (p.Ala1074Gly)
20g.32436086C>TCA408562924ASXL1c.3374C>T (p.Ala1125Val)
c.3191C>T (p.Ala1064Val)
n.5727C>T
c.1869+1505C>T (n.1869+1505C>T)
c.3359C>T (p.Ala1120Val)
c.3371C>T (p.Ala1124Val)
c.3344C>T (p.Ala1115Val)
c.3290C>T (p.Ala1097Val)
c.2690C>T (p.Ala897Val)
c.3638C>T (p.Ala1213Val)
c.3635C>T (p.Ala1212Val)
c.3554C>T (p.Ala1185Val)
c.3485C>T (p.Ala1162Val)
c.3353C>T (p.Ala1118Val)
c.3221C>T (p.Ala1074Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436087C>ACA510467182ASXL1c.3375C>A (p.Ala1125=)
c.3192C>A (p.Ala1064=)
n.5728C>A
c.1869+1506C>A (n.1869+1506C>A)
c.3360C>A (p.Ala1120=)
c.3372C>A (p.Ala1124=)
c.3345C>A (p.Ala1115=)
c.3291C>A (p.Ala1097=)
c.2691C>A (p.Ala897=)
c.3639C>A (p.Ala1213=)
c.3636C>A (p.Ala1212=)
c.3555C>A (p.Ala1185=)
c.3486C>A (p.Ala1162=)
c.3354C>A (p.Ala1118=)
c.3222C>A (p.Ala1074=)
 dbSNP
20g.32436087C>GCA510467185ASXL1c.3375C>G (p.Ala1125=)
c.3192C>G (p.Ala1064=)
n.5728C>G
c.1869+1506C>G (n.1869+1506C>G)
c.3360C>G (p.Ala1120=)
c.3372C>G (p.Ala1124=)
c.3345C>G (p.Ala1115=)
c.3291C>G (p.Ala1097=)
c.2691C>G (p.Ala897=)
c.3639C>G (p.Ala1213=)
c.3636C>G (p.Ala1212=)
c.3555C>G (p.Ala1185=)
c.3486C>G (p.Ala1162=)
c.3354C>G (p.Ala1118=)
c.3222C>G (p.Ala1074=)
20g.32436087C>TCA510467186ASXL1c.3375C>T (p.Ala1125=)
c.3192C>T (p.Ala1064=)
n.5728C>T
c.1869+1506C>T (n.1869+1506C>T)
c.3360C>T (p.Ala1120=)
c.3372C>T (p.Ala1124=)
c.3345C>T (p.Ala1115=)
c.3291C>T (p.Ala1097=)
c.2691C>T (p.Ala897=)
c.3639C>T (p.Ala1213=)
c.3636C>T (p.Ala1212=)
c.3555C>T (p.Ala1185=)
c.3486C>T (p.Ala1162=)
c.3354C>T (p.Ala1118=)
c.3222C>T (p.Ala1074=)
20g.32436088C>ACA408562926ASXL1c.3376C>A (p.His1126Asn)
c.3193C>A (p.His1065Asn)
n.5729C>A
c.1869+1507C>A (n.1869+1507C>A)
c.3361C>A (p.His1121Asn)
c.3373C>A (p.His1125Asn)
c.3346C>A (p.His1116Asn)
c.3292C>A (p.His1098Asn)
c.2692C>A (p.His898Asn)
c.3640C>A (p.His1214Asn)
c.3637C>A (p.His1213Asn)
c.3556C>A (p.His1186Asn)
c.3487C>A (p.His1163Asn)
c.3355C>A (p.His1119Asn)
c.3223C>A (p.His1075Asn)
 dbSNP
20g.32436088C=CA2360293526ASXL1c.3376C= (p.His1126=)
c.3193C= (p.His1065=)
n.5729C=
c.1869+1507C= (n.1869+1507C=)
c.3361C= (p.His1121=)
c.3373C= (p.His1125=)
c.3346C= (p.His1116=)
c.3292C= (p.His1098=)
c.2692C= (p.His898=)
c.3640C= (p.His1214=)
c.3637C= (p.His1213=)
c.3556C= (p.His1186=)
c.3487C= (p.His1163=)
c.3355C= (p.His1119=)
c.3223C= (p.His1075=)
20g.32436088C>GCA408562927ASXL1c.3376C>G (p.His1126Asp)
c.3193C>G (p.His1065Asp)
n.5729C>G
c.1869+1507C>G (n.1869+1507C>G)
c.3361C>G (p.His1121Asp)
c.3373C>G (p.His1125Asp)
c.3346C>G (p.His1116Asp)
c.3292C>G (p.His1098Asp)
c.2692C>G (p.His898Asp)
c.3640C>G (p.His1214Asp)
c.3637C>G (p.His1213Asp)
c.3556C>G (p.His1186Asp)
c.3487C>G (p.His1163Asp)
c.3355C>G (p.His1119Asp)
c.3223C>G (p.His1075Asp)
20g.32436088C>TCA9808804ASXL1c.3376C>T (p.His1126Tyr)
c.3193C>T (p.His1065Tyr)
n.5729C>T
c.1869+1507C>T (n.1869+1507C>T)
c.3361C>T (p.His1121Tyr)
c.3373C>T (p.His1125Tyr)
c.3346C>T (p.His1116Tyr)
c.3292C>T (p.His1098Tyr)
c.2692C>T (p.His898Tyr)
c.3640C>T (p.His1214Tyr)
c.3637C>T (p.His1213Tyr)
c.3556C>T (p.His1186Tyr)
c.3487C>T (p.His1163Tyr)
c.3355C>T (p.His1119Tyr)
c.3223C>T (p.His1075Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436089A>CCA408562928ASXL1c.3377A>C (p.His1126Pro)
c.3194A>C (p.His1065Pro)
n.5730A>C
c.1869+1508A>C (n.1869+1508A>C)
c.3362A>C (p.His1121Pro)
c.3374A>C (p.His1125Pro)
c.3347A>C (p.His1116Pro)
c.3293A>C (p.His1098Pro)
c.2693A>C (p.His898Pro)
c.3641A>C (p.His1214Pro)
c.3638A>C (p.His1213Pro)
c.3557A>C (p.His1186Pro)
c.3488A>C (p.His1163Pro)
c.3356A>C (p.His1119Pro)
c.3224A>C (p.His1075Pro)
20g.32436089A>GCA408562929ASXL1c.3377A>G (p.His1126Arg)
c.3194A>G (p.His1065Arg)
n.5730A>G
c.1869+1508A>G (n.1869+1508A>G)
c.3362A>G (p.His1121Arg)
c.3374A>G (p.His1125Arg)
c.3347A>G (p.His1116Arg)
c.3293A>G (p.His1098Arg)
c.2693A>G (p.His898Arg)
c.3641A>G (p.His1214Arg)
c.3638A>G (p.His1213Arg)
c.3557A>G (p.His1186Arg)
c.3488A>G (p.His1163Arg)
c.3356A>G (p.His1119Arg)
c.3224A>G (p.His1075Arg)
 COSMIC COSMIC
20g.32436089A>TCA408562930ASXL1c.3377A>T (p.His1126Leu)
c.3194A>T (p.His1065Leu)
n.5730A>T
c.1869+1508A>T (n.1869+1508A>T)
c.3362A>T (p.His1121Leu)
c.3374A>T (p.His1125Leu)
c.3347A>T (p.His1116Leu)
c.3293A>T (p.His1098Leu)
c.2693A>T (p.His898Leu)
c.3641A>T (p.His1214Leu)
c.3638A>T (p.His1213Leu)
c.3557A>T (p.His1186Leu)
c.3488A>T (p.His1163Leu)
c.3356A>T (p.His1119Leu)
c.3224A>T (p.His1075Leu)
20g.32436090C>ACA408562931ASXL1c.3378C>A (p.His1126Gln)
c.3195C>A (p.His1065Gln)
n.5731C>A
c.1869+1509C>A (n.1869+1509C>A)
c.3363C>A (p.His1121Gln)
c.3375C>A (p.His1125Gln)
c.3348C>A (p.His1116Gln)
c.3294C>A (p.His1098Gln)
c.2694C>A (p.His898Gln)
c.3642C>A (p.His1214Gln)
c.3639C>A (p.His1213Gln)
c.3558C>A (p.His1186Gln)
c.3489C>A (p.His1163Gln)
c.3357C>A (p.His1119Gln)
c.3225C>A (p.His1075Gln)
20g.32436090C=CA2360293527ASXL1c.3378C= (p.His1126=)
c.3195C= (p.His1065=)
n.5731C=
c.1869+1509C= (n.1869+1509C=)
c.3363C= (p.His1121=)
c.3375C= (p.His1125=)
c.3348C= (p.His1116=)
c.3294C= (p.His1098=)
c.2694C= (p.His898=)
c.3642C= (p.His1214=)
c.3639C= (p.His1213=)
c.3558C= (p.His1186=)
c.3489C= (p.His1163=)
c.3357C= (p.His1119=)
c.3225C= (p.His1075=)
20g.32436090C>GCA408562932ASXL1c.3378C>G (p.His1126Gln)
c.3195C>G (p.His1065Gln)
n.5731C>G
c.1869+1509C>G (n.1869+1509C>G)
c.3363C>G (p.His1121Gln)
c.3375C>G (p.His1125Gln)
c.3348C>G (p.His1116Gln)
c.3294C>G (p.His1098Gln)
c.2694C>G (p.His898Gln)
c.3642C>G (p.His1214Gln)
c.3639C>G (p.His1213Gln)
c.3558C>G (p.His1186Gln)
c.3489C>G (p.His1163Gln)
c.3357C>G (p.His1119Gln)
c.3225C>G (p.His1075Gln)
20g.32436090C>TCA9808805ASXL1c.3378C>T (p.His1126=)
c.3195C>T (p.His1065=)
n.5731C>T
c.1869+1509C>T (n.1869+1509C>T)
c.3363C>T (p.His1121=)
c.3375C>T (p.His1125=)
c.3348C>T (p.His1116=)
c.3294C>T (p.His1098=)
c.2694C>T (p.His898=)
c.3642C>T (p.His1214=)
c.3639C>T (p.His1213=)
c.3558C>T (p.His1186=)
c.3489C>T (p.His1163=)
c.3357C>T (p.His1119=)
c.3225C>T (p.His1075=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436091G>ACA9808806ASXL1c.3379G>A (p.Asp1127Asn)
c.3196G>A (p.Asp1066Asn)
n.5732G>A
c.1869+1510G>A (n.1869+1510G>A)
c.3364G>A (p.Asp1122Asn)
c.3376G>A (p.Asp1126Asn)
c.3349G>A (p.Asp1117Asn)
c.3295G>A (p.Asp1099Asn)
c.2695G>A (p.Asp899Asn)
c.3643G>A (p.Asp1215Asn)
c.3640G>A (p.Asp1214Asn)
c.3559G>A (p.Asp1187Asn)
c.3490G>A (p.Asp1164Asn)
c.3358G>A (p.Asp1120Asn)
c.3226G>A (p.Asp1076Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436091G>CCA408562933ASXL1c.3379G>C (p.Asp1127His)
c.3196G>C (p.Asp1066His)
n.5732G>C
c.1869+1510G>C (n.1869+1510G>C)
c.3364G>C (p.Asp1122His)
c.3376G>C (p.Asp1126His)
c.3349G>C (p.Asp1117His)
c.3295G>C (p.Asp1099His)
c.2695G>C (p.Asp899His)
c.3643G>C (p.Asp1215His)
c.3640G>C (p.Asp1214His)
c.3559G>C (p.Asp1187His)
c.3490G>C (p.Asp1164His)
c.3358G>C (p.Asp1120His)
c.3226G>C (p.Asp1076His)
 dbSNP
20g.32436091G=CA2360293528ASXL1c.3379G= (p.Asp1127=)
c.3196G= (p.Asp1066=)
n.5732G=
c.1869+1510G= (n.1869+1510G=)
c.3364G= (p.Asp1122=)
c.3376G= (p.Asp1126=)
c.3349G= (p.Asp1117=)
c.3295G= (p.Asp1099=)
c.2695G= (p.Asp899=)
c.3643G= (p.Asp1215=)
c.3640G= (p.Asp1214=)
c.3559G= (p.Asp1187=)
c.3490G= (p.Asp1164=)
c.3358G= (p.Asp1120=)
c.3226G= (p.Asp1076=)
20g.32436091G>TCA408562934ASXL1c.3379G>T (p.Asp1127Tyr)
c.3196G>T (p.Asp1066Tyr)
n.5732G>T
c.1869+1510G>T (n.1869+1510G>T)
c.3364G>T (p.Asp1122Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3349G>T (p.Asp1117Tyr)
c.3295G>T (p.Asp1099Tyr)
c.2695G>T (p.Asp899Tyr)
c.3643G>T (p.Asp1215Tyr)
c.3640G>T (p.Asp1214Tyr)
c.3559G>T (p.Asp1187Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3358G>T (p.Asp1120Tyr)
c.3226G>T (p.Asp1076Tyr)
 dbSNP gnomAD v4
20g.32436092A>CCA408562937ASXL1c.3380A>C (p.Asp1127Ala)
c.3197A>C (p.Asp1066Ala)
n.5733A>C
c.1869+1511A>C (n.1869+1511A>C)
c.3365A>C (p.Asp1122Ala)
c.3377A>C (p.Asp1126Ala)
c.3350A>C (p.Asp1117Ala)
c.3296A>C (p.Asp1099Ala)
c.2696A>C (p.Asp899Ala)
c.3644A>C (p.Asp1215Ala)
c.3641A>C (p.Asp1214Ala)
c.3560A>C (p.Asp1187Ala)
c.3491A>C (p.Asp1164Ala)
c.3359A>C (p.Asp1120Ala)
c.3227A>C (p.Asp1076Ala)
20g.32436092A>GCA408562935ASXL1c.3380A>G (p.Asp1127Gly)
c.3197A>G (p.Asp1066Gly)
n.5733A>G
c.1869+1511A>G (n.1869+1511A>G)
c.3365A>G (p.Asp1122Gly)
c.3377A>G (p.Asp1126Gly)
c.3350A>G (p.Asp1117Gly)
c.3296A>G (p.Asp1099Gly)
c.2696A>G (p.Asp899Gly)
c.3644A>G (p.Asp1215Gly)
c.3641A>G (p.Asp1214Gly)
c.3560A>G (p.Asp1187Gly)
c.3491A>G (p.Asp1164Gly)
c.3359A>G (p.Asp1120Gly)
c.3227A>G (p.Asp1076Gly)
 gnomAD v4
20g.32436092A>TCA408562936ASXL1c.3380A>T (p.Asp1127Val)
c.3197A>T (p.Asp1066Val)
n.5733A>T
c.1869+1511A>T (n.1869+1511A>T)
c.3365A>T (p.Asp1122Val)
c.3377A>T (p.Asp1126Val)
c.3350A>T (p.Asp1117Val)
c.3296A>T (p.Asp1099Val)
c.2696A>T (p.Asp899Val)
c.3644A>T (p.Asp1215Val)
c.3641A>T (p.Asp1214Val)
c.3560A>T (p.Asp1187Val)
c.3491A>T (p.Asp1164Val)
c.3359A>T (p.Asp1120Val)
c.3227A>T (p.Asp1076Val)
20g.32436093T>ACA9808807ASXL1c.3381T>A (p.Asp1127Glu)
c.3198T>A (p.Asp1066Glu)
n.5734T>A
c.1869+1512T>A (n.1869+1512T>A)
c.3366T>A (p.Asp1122Glu)
c.3378T>A (p.Asp1126Glu)
c.3351T>A (p.Asp1117Glu)
c.3297T>A (p.Asp1099Glu)
c.2697T>A (p.Asp899Glu)
c.3645T>A (p.Asp1215Glu)
c.3642T>A (p.Asp1214Glu)
c.3561T>A (p.Asp1187Glu)
c.3492T>A (p.Asp1164Glu)
c.3360T>A (p.Asp1120Glu)
c.3228T>A (p.Asp1076Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436093T>CCA510467197ASXL1c.3381T>C (p.Asp1127=)
c.3198T>C (p.Asp1066=)
n.5734T>C
c.1869+1512T>C (n.1869+1512T>C)
c.3366T>C (p.Asp1122=)
c.3378T>C (p.Asp1126=)
c.3351T>C (p.Asp1117=)
c.3297T>C (p.Asp1099=)
c.2697T>C (p.Asp899=)
c.3645T>C (p.Asp1215=)
c.3642T>C (p.Asp1214=)
c.3561T>C (p.Asp1187=)
c.3492T>C (p.Asp1164=)
c.3360T>C (p.Asp1120=)
c.3228T>C (p.Asp1076=)
20g.32436093T>GCA408562938ASXL1c.3381T>G (p.Asp1127Glu)
c.3198T>G (p.Asp1066Glu)
n.5734T>G
c.1869+1512T>G (n.1869+1512T>G)
c.3366T>G (p.Asp1122Glu)
c.3378T>G (p.Asp1126Glu)
c.3351T>G (p.Asp1117Glu)
c.3297T>G (p.Asp1099Glu)
c.2697T>G (p.Asp899Glu)
c.3645T>G (p.Asp1215Glu)
c.3642T>G (p.Asp1214Glu)
c.3561T>G (p.Asp1187Glu)
c.3492T>G (p.Asp1164Glu)
c.3360T>G (p.Asp1120Glu)
c.3228T>G (p.Asp1076Glu)
20g.32436093T=CA2360293529ASXL1c.3381T= (p.Asp1127=)
c.3198T= (p.Asp1066=)
n.5734T=
c.1869+1512T= (n.1869+1512T=)
c.3366T= (p.Asp1122=)
c.3378T= (p.Asp1126=)
c.3351T= (p.Asp1117=)
c.3297T= (p.Asp1099=)
c.2697T= (p.Asp899=)
c.3645T= (p.Asp1215=)
c.3642T= (p.Asp1214=)
c.3561T= (p.Asp1187=)
c.3492T= (p.Asp1164=)
c.3360T= (p.Asp1120=)
c.3228T= (p.Asp1076=)
20g.32436094G>ACA408562939ASXL1c.3382G>A (p.Asp1128Asn)
c.3199G>A (p.Asp1067Asn)
n.5735G>A
c.1869+1513G>A (n.1869+1513G>A)
c.3367G>A (p.Asp1123Asn)
c.3379G>A (p.Asp1127Asn)
c.3352G>A (p.Asp1118Asn)
c.3298G>A (p.Asp1100Asn)
c.2698G>A (p.Asp900Asn)
c.3646G>A (p.Asp1216Asn)
c.3643G>A (p.Asp1215Asn)
c.3562G>A (p.Asp1188Asn)
c.3493G>A (p.Asp1165Asn)
c.3361G>A (p.Asp1121Asn)
c.3229G>A (p.Asp1077Asn)
20g.32436094G>CCA408562940ASXL1c.3382G>C (p.Asp1128His)
c.3199G>C (p.Asp1067His)
n.5735G>C
c.1869+1513G>C (n.1869+1513G>C)
c.3367G>C (p.Asp1123His)
c.3379G>C (p.Asp1127His)
c.3352G>C (p.Asp1118His)
c.3298G>C (p.Asp1100His)
c.2698G>C (p.Asp900His)
c.3646G>C (p.Asp1216His)
c.3643G>C (p.Asp1215His)
c.3562G>C (p.Asp1188His)
c.3493G>C (p.Asp1165His)
c.3361G>C (p.Asp1121His)
c.3229G>C (p.Asp1077His)
 dbSNP
20g.32436094G>TCA408562941ASXL1c.3382G>T (p.Asp1128Tyr)
c.3199G>T (p.Asp1067Tyr)
n.5735G>T
c.1869+1513G>T (n.1869+1513G>T)
c.3367G>T (p.Asp1123Tyr)
c.3379G>T (p.Asp1127Tyr)
c.3352G>T (p.Asp1118Tyr)
c.3298G>T (p.Asp1100Tyr)
c.2698G>T (p.Asp900Tyr)
c.3646G>T (p.Asp1216Tyr)
c.3643G>T (p.Asp1215Tyr)
c.3562G>T (p.Asp1188Tyr)
c.3493G>T (p.Asp1165Tyr)
c.3361G>T (p.Asp1121Tyr)
c.3229G>T (p.Asp1077Tyr)
20g.32436095A>CCA408562942ASXL1c.3383A>C (p.Asp1128Ala)
c.3200A>C (p.Asp1067Ala)
n.5736A>C
c.1869+1514A>C (n.1869+1514A>C)
c.3368A>C (p.Asp1123Ala)
c.3380A>C (p.Asp1127Ala)
c.3353A>C (p.Asp1118Ala)
c.3299A>C (p.Asp1100Ala)
c.2699A>C (p.Asp900Ala)
c.3647A>C (p.Asp1216Ala)
c.3644A>C (p.Asp1215Ala)
c.3563A>C (p.Asp1188Ala)
c.3494A>C (p.Asp1165Ala)
c.3362A>C (p.Asp1121Ala)
c.3230A>C (p.Asp1077Ala)
20g.32436095A>GCA408562943ASXL1c.3383A>G (p.Asp1128Gly)
c.3200A>G (p.Asp1067Gly)
n.5736A>G
c.1869+1514A>G (n.1869+1514A>G)
c.3368A>G (p.Asp1123Gly)
c.3380A>G (p.Asp1127Gly)
c.3353A>G (p.Asp1118Gly)
c.3299A>G (p.Asp1100Gly)
c.2699A>G (p.Asp900Gly)
c.3647A>G (p.Asp1216Gly)
c.3644A>G (p.Asp1215Gly)
c.3563A>G (p.Asp1188Gly)
c.3494A>G (p.Asp1165Gly)
c.3362A>G (p.Asp1121Gly)
c.3230A>G (p.Asp1077Gly)
20g.32436095A>TCA408562944ASXL1c.3383A>T (p.Asp1128Val)
c.3200A>T (p.Asp1067Val)
n.5736A>T
c.1869+1514A>T (n.1869+1514A>T)
c.3368A>T (p.Asp1123Val)
c.3380A>T (p.Asp1127Val)
c.3353A>T (p.Asp1118Val)
c.3299A>T (p.Asp1100Val)
c.2699A>T (p.Asp900Val)
c.3647A>T (p.Asp1216Val)
c.3644A>T (p.Asp1215Val)
c.3563A>T (p.Asp1188Val)
c.3494A>T (p.Asp1165Val)
c.3362A>T (p.Asp1121Val)
c.3230A>T (p.Asp1077Val)
20g.32436096C>ACA408562945ASXL1c.3384C>A (p.Asp1128Glu)
c.3201C>A (p.Asp1067Glu)
n.5737C>A
c.1869+1515C>A (n.1869+1515C>A)
c.3369C>A (p.Asp1123Glu)
c.3381C>A (p.Asp1127Glu)
c.3354C>A (p.Asp1118Glu)
c.3300C>A (p.Asp1100Glu)
c.2700C>A (p.Asp900Glu)
c.3648C>A (p.Asp1216Glu)
c.3645C>A (p.Asp1215Glu)
c.3564C>A (p.Asp1188Glu)
c.3495C>A (p.Asp1165Glu)
c.3363C>A (p.Asp1121Glu)
c.3231C>A (p.Asp1077Glu)
20g.32436096C=CA2360293530ASXL1c.3384C= (p.Asp1128=)
c.3201C= (p.Asp1067=)
n.5737C=
c.1869+1515C= (n.1869+1515C=)
c.3369C= (p.Asp1123=)
c.3381C= (p.Asp1127=)
c.3354C= (p.Asp1118=)
c.3300C= (p.Asp1100=)
c.2700C= (p.Asp900=)
c.3648C= (p.Asp1216=)
c.3645C= (p.Asp1215=)
c.3564C= (p.Asp1188=)
c.3495C= (p.Asp1165=)
c.3363C= (p.Asp1121=)
c.3231C= (p.Asp1077=)
20g.32436096C>GCA408562946ASXL1c.3384C>G (p.Asp1128Glu)
c.3201C>G (p.Asp1067Glu)
n.5737C>G
c.1869+1515C>G (n.1869+1515C>G)
c.3369C>G (p.Asp1123Glu)
c.3381C>G (p.Asp1127Glu)
c.3354C>G (p.Asp1118Glu)
c.3300C>G (p.Asp1100Glu)
c.2700C>G (p.Asp900Glu)
c.3648C>G (p.Asp1216Glu)
c.3645C>G (p.Asp1215Glu)
c.3564C>G (p.Asp1188Glu)
c.3495C>G (p.Asp1165Glu)
c.3363C>G (p.Asp1121Glu)
c.3231C>G (p.Asp1077Glu)
20g.32436096C>TCA9808808ASXL1c.3384C>T (p.Asp1128=)
c.3201C>T (p.Asp1067=)
n.5737C>T
c.1869+1515C>T (n.1869+1515C>T)
c.3369C>T (p.Asp1123=)
c.3381C>T (p.Asp1127=)
c.3354C>T (p.Asp1118=)
c.3300C>T (p.Asp1100=)
c.2700C>T (p.Asp900=)
c.3648C>T (p.Asp1216=)
c.3645C>T (p.Asp1215=)
c.3564C>T (p.Asp1188=)
c.3495C>T (p.Asp1165=)
c.3363C>T (p.Asp1121=)
c.3231C>T (p.Asp1077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436097A>CCA408562949ASXL1c.3385A>C (p.Ser1129Arg)
c.3202A>C (p.Ser1068Arg)
n.5738A>C
c.1869+1516A>C (n.1869+1516A>C)
c.3370A>C (p.Ser1124Arg)
c.3382A>C (p.Ser1128Arg)
c.3355A>C (p.Ser1119Arg)
c.3301A>C (p.Ser1101Arg)
c.2701A>C (p.Ser901Arg)
c.3649A>C (p.Ser1217Arg)
c.3646A>C (p.Ser1216Arg)
c.3565A>C (p.Ser1189Arg)
c.3496A>C (p.Ser1166Arg)
c.3364A>C (p.Ser1122Arg)
c.3232A>C (p.Ser1078Arg)
20g.32436097A>GCA408562948ASXL1c.3385A>G (p.Ser1129Gly)
c.3202A>G (p.Ser1068Gly)
n.5738A>G
c.1869+1516A>G (n.1869+1516A>G)
c.3370A>G (p.Ser1124Gly)
c.3382A>G (p.Ser1128Gly)
c.3355A>G (p.Ser1119Gly)
c.3301A>G (p.Ser1101Gly)
c.2701A>G (p.Ser901Gly)
c.3649A>G (p.Ser1217Gly)
c.3646A>G (p.Ser1216Gly)
c.3565A>G (p.Ser1189Gly)
c.3496A>G (p.Ser1166Gly)
c.3364A>G (p.Ser1122Gly)
c.3232A>G (p.Ser1078Gly)
20g.32436097A>TCA408562947ASXL1c.3385A>T (p.Ser1129Cys)
c.3202A>T (p.Ser1068Cys)
n.5738A>T
c.1869+1516A>T (n.1869+1516A>T)
c.3370A>T (p.Ser1124Cys)
c.3382A>T (p.Ser1128Cys)
c.3355A>T (p.Ser1119Cys)
c.3301A>T (p.Ser1101Cys)
c.2701A>T (p.Ser901Cys)
c.3649A>T (p.Ser1217Cys)
c.3646A>T (p.Ser1216Cys)
c.3565A>T (p.Ser1189Cys)
c.3496A>T (p.Ser1166Cys)
c.3364A>T (p.Ser1122Cys)
c.3232A>T (p.Ser1078Cys)
20g.32436098G>ACA408562950ASXL1c.3386G>A (p.Ser1129Asn)
c.3203G>A (p.Ser1068Asn)
n.5739G>A
c.1869+1517G>A (n.1869+1517G>A)
c.3371G>A (p.Ser1124Asn)
c.3383G>A (p.Ser1128Asn)
c.3356G>A (p.Ser1119Asn)
c.3302G>A (p.Ser1101Asn)
c.2702G>A (p.Ser901Asn)
c.3650G>A (p.Ser1217Asn)
c.3647G>A (p.Ser1216Asn)
c.3566G>A (p.Ser1189Asn)
c.3497G>A (p.Ser1166Asn)
c.3365G>A (p.Ser1122Asn)
c.3233G>A (p.Ser1078Asn)
 dbSNP gnomAD v4
20g.32436098G>CCA408562951ASXL1c.3386G>C (p.Ser1129Thr)
c.3203G>C (p.Ser1068Thr)
n.5739G>C
c.1869+1517G>C (n.1869+1517G>C)
c.3371G>C (p.Ser1124Thr)
c.3383G>C (p.Ser1128Thr)
c.3356G>C (p.Ser1119Thr)
c.3302G>C (p.Ser1101Thr)
c.2702G>C (p.Ser901Thr)
c.3650G>C (p.Ser1217Thr)
c.3647G>C (p.Ser1216Thr)
c.3566G>C (p.Ser1189Thr)
c.3497G>C (p.Ser1166Thr)
c.3365G>C (p.Ser1122Thr)
c.3233G>C (p.Ser1078Thr)
 dbSNP
20g.32436098G>TCA408562952ASXL1c.3386G>T (p.Ser1129Ile)
c.3203G>T (p.Ser1068Ile)
n.5739G>T
c.1869+1517G>T (n.1869+1517G>T)
c.3371G>T (p.Ser1124Ile)
c.3383G>T (p.Ser1128Ile)
c.3356G>T (p.Ser1119Ile)
c.3302G>T (p.Ser1101Ile)
c.2702G>T (p.Ser901Ile)
c.3650G>T (p.Ser1217Ile)
c.3647G>T (p.Ser1216Ile)
c.3566G>T (p.Ser1189Ile)
c.3497G>T (p.Ser1166Ile)
c.3365G>T (p.Ser1122Ile)
c.3233G>T (p.Ser1078Ile)
20g.32436099C>ACA408562953ASXL1c.3387C>A (p.Ser1129Arg)
c.3204C>A (p.Ser1068Arg)
n.5740C>A
c.1869+1518C>A (n.1869+1518C>A)
c.3372C>A (p.Ser1124Arg)
c.3384C>A (p.Ser1128Arg)
c.3357C>A (p.Ser1119Arg)
c.3303C>A (p.Ser1101Arg)
c.2703C>A (p.Ser901Arg)
c.3651C>A (p.Ser1217Arg)
c.3648C>A (p.Ser1216Arg)
c.3567C>A (p.Ser1189Arg)
c.3498C>A (p.Ser1166Arg)
c.3366C>A (p.Ser1122Arg)
c.3234C>A (p.Ser1078Arg)
 dbSNP
20g.32436099C>GCA408562954ASXL1c.3387C>G (p.Ser1129Arg)
c.3204C>G (p.Ser1068Arg)
n.5740C>G
c.1869+1518C>G (n.1869+1518C>G)
c.3372C>G (p.Ser1124Arg)
c.3384C>G (p.Ser1128Arg)
c.3357C>G (p.Ser1119Arg)
c.3303C>G (p.Ser1101Arg)
c.2703C>G (p.Ser901Arg)
c.3651C>G (p.Ser1217Arg)
c.3648C>G (p.Ser1216Arg)
c.3567C>G (p.Ser1189Arg)
c.3498C>G (p.Ser1166Arg)
c.3366C>G (p.Ser1122Arg)
c.3234C>G (p.Ser1078Arg)
20g.32436099C>TCA510467207ASXL1c.3387C>T (p.Ser1129=)
c.3204C>T (p.Ser1068=)
n.5740C>T
c.1869+1518C>T (n.1869+1518C>T)
c.3372C>T (p.Ser1124=)
c.3384C>T (p.Ser1128=)
c.3357C>T (p.Ser1119=)
c.3303C>T (p.Ser1101=)
c.2703C>T (p.Ser901=)
c.3651C>T (p.Ser1217=)
c.3648C>T (p.Ser1216=)
c.3567C>T (p.Ser1189=)
c.3498C>T (p.Ser1166=)
c.3366C>T (p.Ser1122=)
c.3234C>T (p.Ser1078=)
 dbSNP
20g.32436100A=CA2360293531ASXL1c.3388A= (p.Met1130=)
c.3205A= (p.Met1069=)
n.5741A=
c.1869+1519A= (n.1869+1519A=)
c.3373A= (p.Met1125=)
c.3385A= (p.Met1129=)
c.3358A= (p.Met1120=)
c.3304A= (p.Met1102=)
c.2704A= (p.Met902=)
c.3652A= (p.Met1218=)
c.3649A= (p.Met1217=)
c.3568A= (p.Met1190=)
c.3499A= (p.Met1167=)
c.3367A= (p.Met1123=)
c.3235A= (p.Met1079=)
20g.32436100A>CCA408562955ASXL1c.3388A>C (p.Met1130Leu)
c.3205A>C (p.Met1069Leu)
n.5741A>C
c.1869+1519A>C (n.1869+1519A>C)
c.3373A>C (p.Met1125Leu)
c.3385A>C (p.Met1129Leu)
c.3358A>C (p.Met1120Leu)
c.3304A>C (p.Met1102Leu)
c.2704A>C (p.Met902Leu)
c.3652A>C (p.Met1218Leu)
c.3649A>C (p.Met1217Leu)
c.3568A>C (p.Met1190Leu)
c.3499A>C (p.Met1167Leu)
c.3367A>C (p.Met1123Leu)
c.3235A>C (p.Met1079Leu)
 gnomAD v4
20g.32436100A>GCA408562956ASXL1c.3388A>G (p.Met1130Val)
c.3205A>G (p.Met1069Val)
n.5741A>G
c.1869+1519A>G (n.1869+1519A>G)
c.3373A>G (p.Met1125Val)
c.3385A>G (p.Met1129Val)
c.3358A>G (p.Met1120Val)
c.3304A>G (p.Met1102Val)
c.2704A>G (p.Met902Val)
c.3652A>G (p.Met1218Val)
c.3649A>G (p.Met1217Val)
c.3568A>G (p.Met1190Val)
c.3499A>G (p.Met1167Val)
c.3367A>G (p.Met1123Val)
c.3235A>G (p.Met1079Val)
 dbSNP gnomAD v4
20g.32436100A>TCA408562957ASXL1c.3388A>T (p.Met1130Leu)
c.3205A>T (p.Met1069Leu)
n.5741A>T
c.1869+1519A>T (n.1869+1519A>T)
c.3373A>T (p.Met1125Leu)
c.3385A>T (p.Met1129Leu)
c.3358A>T (p.Met1120Leu)
c.3304A>T (p.Met1102Leu)
c.2704A>T (p.Met902Leu)
c.3652A>T (p.Met1218Leu)
c.3649A>T (p.Met1217Leu)
c.3568A>T (p.Met1190Leu)
c.3499A>T (p.Met1167Leu)
c.3367A>T (p.Met1123Leu)
c.3235A>T (p.Met1079Leu)
 gnomAD v4
20g.32436101T>ACA408562958ASXL1c.3389T>A (p.Met1130Lys)
c.3206T>A (p.Met1069Lys)
n.5742T>A
c.1869+1520T>A (n.1869+1520T>A)
c.3374T>A (p.Met1125Lys)
c.3386T>A (p.Met1129Lys)
c.3359T>A (p.Met1120Lys)
c.3305T>A (p.Met1102Lys)
c.2705T>A (p.Met902Lys)
c.3653T>A (p.Met1218Lys)
c.3650T>A (p.Met1217Lys)
c.3569T>A (p.Met1190Lys)
c.3500T>A (p.Met1167Lys)
c.3368T>A (p.Met1123Lys)
c.3236T>A (p.Met1079Lys)
20g.32436101T>CCA408562959ASXL1c.3389T>C (p.Met1130Thr)
c.3206T>C (p.Met1069Thr)
n.5742T>C
c.1869+1520T>C (n.1869+1520T>C)
c.3374T>C (p.Met1125Thr)
c.3386T>C (p.Met1129Thr)
c.3359T>C (p.Met1120Thr)
c.3305T>C (p.Met1102Thr)
c.2705T>C (p.Met902Thr)
c.3653T>C (p.Met1218Thr)
c.3650T>C (p.Met1217Thr)
c.3569T>C (p.Met1190Thr)
c.3500T>C (p.Met1167Thr)
c.3368T>C (p.Met1123Thr)
c.3236T>C (p.Met1079Thr)
 gnomAD v4
20g.32436101T>GCA408562960ASXL1c.3389T>G (p.Met1130Arg)
c.3206T>G (p.Met1069Arg)
n.5742T>G
c.1869+1520T>G (n.1869+1520T>G)
c.3374T>G (p.Met1125Arg)
c.3386T>G (p.Met1129Arg)
c.3359T>G (p.Met1120Arg)
c.3305T>G (p.Met1102Arg)
c.2705T>G (p.Met902Arg)
c.3653T>G (p.Met1218Arg)
c.3650T>G (p.Met1217Arg)
c.3569T>G (p.Met1190Arg)
c.3500T>G (p.Met1167Arg)
c.3368T>G (p.Met1123Arg)
c.3236T>G (p.Met1079Arg)
20g.32436102G>ACA408562961ASXL1c.3390G>A (p.Met1130Ile)
c.3207G>A (p.Met1069Ile)
n.5743G>A
c.1869+1521G>A (n.1869+1521G>A)
c.3375G>A (p.Met1125Ile)
c.3387G>A (p.Met1129Ile)
c.3360G>A (p.Met1120Ile)
c.3306G>A (p.Met1102Ile)
c.2706G>A (p.Met902Ile)
c.3654G>A (p.Met1218Ile)
c.3651G>A (p.Met1217Ile)
c.3570G>A (p.Met1190Ile)
c.3501G>A (p.Met1167Ile)
c.3369G>A (p.Met1123Ile)
c.3237G>A (p.Met1079Ile)
20g.32436102G>CCA408562962ASXL1c.3390G>C (p.Met1130Ile)
c.3207G>C (p.Met1069Ile)
n.5743G>C
c.1869+1521G>C (n.1869+1521G>C)
c.3375G>C (p.Met1125Ile)
c.3387G>C (p.Met1129Ile)
c.3360G>C (p.Met1120Ile)
c.3306G>C (p.Met1102Ile)
c.2706G>C (p.Met902Ile)
c.3654G>C (p.Met1218Ile)
c.3651G>C (p.Met1217Ile)
c.3570G>C (p.Met1190Ile)
c.3501G>C (p.Met1167Ile)
c.3369G>C (p.Met1123Ile)
c.3237G>C (p.Met1079Ile)
 dbSNP
20g.32436102G>TCA408562963ASXL1c.3390G>T (p.Met1130Ile)
c.3207G>T (p.Met1069Ile)
n.5743G>T
c.1869+1521G>T (n.1869+1521G>T)
c.3375G>T (p.Met1125Ile)
c.3387G>T (p.Met1129Ile)
c.3360G>T (p.Met1120Ile)
c.3306G>T (p.Met1102Ile)
c.2706G>T (p.Met902Ile)
c.3654G>T (p.Met1218Ile)
c.3651G>T (p.Met1217Ile)
c.3570G>T (p.Met1190Ile)
c.3501G>T (p.Met1167Ile)
c.3369G>T (p.Met1123Ile)
c.3237G>T (p.Met1079Ile)
20g.32436103T>ACA408562965ASXL1c.3391T>A (p.Ser1131Thr)
c.3208T>A (p.Ser1070Thr)
n.5744T>A
c.1869+1522T>A (n.1869+1522T>A)
c.3376T>A (p.Ser1126Thr)
c.3388T>A (p.Ser1130Thr)
c.3361T>A (p.Ser1121Thr)
c.3307T>A (p.Ser1103Thr)
c.2707T>A (p.Ser903Thr)
c.3655T>A (p.Ser1219Thr)
c.3652T>A (p.Ser1218Thr)
c.3571T>A (p.Ser1191Thr)
c.3502T>A (p.Ser1168Thr)
c.3370T>A (p.Ser1124Thr)
c.3238T>A (p.Ser1080Thr)
20g.32436103T>CCA9808809ASXL1c.3391T>C (p.Ser1131Pro)
c.3208T>C (p.Ser1070Pro)
n.5744T>C
c.1869+1522T>C (n.1869+1522T>C)
c.3376T>C (p.Ser1126Pro)
c.3388T>C (p.Ser1130Pro)
c.3361T>C (p.Ser1121Pro)
c.3307T>C (p.Ser1103Pro)
c.2707T>C (p.Ser903Pro)
c.3655T>C (p.Ser1219Pro)
c.3652T>C (p.Ser1218Pro)
c.3571T>C (p.Ser1191Pro)
c.3502T>C (p.Ser1168Pro)
c.3370T>C (p.Ser1124Pro)
c.3238T>C (p.Ser1080Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436103T>GCA408562964ASXL1c.3391T>G (p.Ser1131Ala)
c.3208T>G (p.Ser1070Ala)
n.5744T>G
c.1869+1522T>G (n.1869+1522T>G)
c.3376T>G (p.Ser1126Ala)
c.3388T>G (p.Ser1130Ala)
c.3361T>G (p.Ser1121Ala)
c.3307T>G (p.Ser1103Ala)
c.2707T>G (p.Ser903Ala)
c.3655T>G (p.Ser1219Ala)
c.3652T>G (p.Ser1218Ala)
c.3571T>G (p.Ser1191Ala)
c.3502T>G (p.Ser1168Ala)
c.3370T>G (p.Ser1124Ala)
c.3238T>G (p.Ser1080Ala)
20g.32436103T=CA2360293532ASXL1c.3391T= (p.Ser1131=)
c.3208T= (p.Ser1070=)
n.5744T=
c.1869+1522T= (n.1869+1522T=)
c.3376T= (p.Ser1126=)
c.3388T= (p.Ser1130=)
c.3361T= (p.Ser1121=)
c.3307T= (p.Ser1103=)
c.2707T= (p.Ser903=)
c.3655T= (p.Ser1219=)
c.3652T= (p.Ser1218=)
c.3571T= (p.Ser1191=)
c.3502T= (p.Ser1168=)
c.3370T= (p.Ser1124=)
c.3238T= (p.Ser1080=)
20g.32436104C>ACA408562966ASXL1c.3392C>A (p.Ser1131Ter)
c.3209C>A (p.Ser1070Ter)
n.5745C>A
c.1869+1523C>A (n.1869+1523C>A)
c.3377C>A (p.Ser1126Ter)
c.3389C>A (p.Ser1130Ter)
c.3362C>A (p.Ser1121Ter)
c.3308C>A (p.Ser1103Ter)
c.2708C>A (p.Ser903Ter)
c.3656C>A (p.Ser1219Ter)
c.3653C>A (p.Ser1218Ter)
c.3572C>A (p.Ser1191Ter)
c.3503C>A (p.Ser1168Ter)
c.3371C>A (p.Ser1124Ter)
c.3239C>A (p.Ser1080Ter)
20g.32436104C=CA2360293533ASXL1c.3392C= (p.Ser1131=)
c.3209C= (p.Ser1070=)
n.5745C=
c.1869+1523C= (n.1869+1523C=)
c.3377C= (p.Ser1126=)
c.3389C= (p.Ser1130=)
c.3362C= (p.Ser1121=)
c.3308C= (p.Ser1103=)
c.2708C= (p.Ser903=)
c.3656C= (p.Ser1219=)
c.3653C= (p.Ser1218=)
c.3572C= (p.Ser1191=)
c.3503C= (p.Ser1168=)
c.3371C= (p.Ser1124=)
c.3239C= (p.Ser1080=)
20g.32436104C>GCA408562967ASXL1c.3392C>G (p.Ser1131Ter)
c.3209C>G (p.Ser1070Ter)
n.5745C>G
c.1869+1523C>G (n.1869+1523C>G)
c.3377C>G (p.Ser1126Ter)
c.3389C>G (p.Ser1130Ter)
c.3362C>G (p.Ser1121Ter)
c.3308C>G (p.Ser1103Ter)
c.2708C>G (p.Ser903Ter)
c.3656C>G (p.Ser1219Ter)
c.3653C>G (p.Ser1218Ter)
c.3572C>G (p.Ser1191Ter)
c.3503C>G (p.Ser1168Ter)
c.3371C>G (p.Ser1124Ter)
c.3239C>G (p.Ser1080Ter)
20g.32436104C>TCA408562968ASXL1c.3392C>T (p.Ser1131Leu)
c.3209C>T (p.Ser1070Leu)
n.5745C>T
c.1869+1523C>T (n.1869+1523C>T)
c.3377C>T (p.Ser1126Leu)
c.3389C>T (p.Ser1130Leu)
c.3362C>T (p.Ser1121Leu)
c.3308C>T (p.Ser1103Leu)
c.2708C>T (p.Ser903Leu)
c.3656C>T (p.Ser1219Leu)
c.3653C>T (p.Ser1218Leu)
c.3572C>T (p.Ser1191Leu)
c.3503C>T (p.Ser1168Leu)
c.3371C>T (p.Ser1124Leu)
c.3239C>T (p.Ser1080Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436105A>CCA510467218ASXL1c.3393A>C (p.Ser1131=)
c.3210A>C (p.Ser1070=)
n.5746A>C
c.1869+1524A>C (n.1869+1524A>C)
c.3378A>C (p.Ser1126=)
c.3390A>C (p.Ser1130=)
c.3363A>C (p.Ser1121=)
c.3309A>C (p.Ser1103=)
c.2709A>C (p.Ser903=)
c.3657A>C (p.Ser1219=)
c.3654A>C (p.Ser1218=)
c.3573A>C (p.Ser1191=)
c.3504A>C (p.Ser1168=)
c.3372A>C (p.Ser1124=)
c.3240A>C (p.Ser1080=)
20g.32436105A>GCA510467216ASXL1c.3393A>G (p.Ser1131=)
c.3210A>G (p.Ser1070=)
n.5746A>G
c.1869+1524A>G (n.1869+1524A>G)
c.3378A>G (p.Ser1126=)
c.3390A>G (p.Ser1130=)
c.3363A>G (p.Ser1121=)
c.3309A>G (p.Ser1103=)
c.2709A>G (p.Ser903=)
c.3657A>G (p.Ser1219=)
c.3654A>G (p.Ser1218=)
c.3573A>G (p.Ser1191=)
c.3504A>G (p.Ser1168=)
c.3372A>G (p.Ser1124=)
c.3240A>G (p.Ser1080=)
20g.32436105A>TCA510467217ASXL1c.3393A>T (p.Ser1131=)
c.3210A>T (p.Ser1070=)
n.5746A>T
c.1869+1524A>T (n.1869+1524A>T)
c.3378A>T (p.Ser1126=)
c.3390A>T (p.Ser1130=)
c.3363A>T (p.Ser1121=)
c.3309A>T (p.Ser1103=)
c.2709A>T (p.Ser903=)
c.3657A>T (p.Ser1219=)
c.3654A>T (p.Ser1218=)
c.3573A>T (p.Ser1191=)
c.3504A>T (p.Ser1168=)
c.3372A>T (p.Ser1124=)
c.3240A>T (p.Ser1080=)
 gnomAD v4
20g.32436106G>ACA408562969ASXL1c.3394G>A (p.Glu1132Lys)
c.3211G>A (p.Glu1071Lys)
n.5747G>A
c.1869+1525G>A (n.1869+1525G>A)
c.3379G>A (p.Glu1127Lys)
c.3391G>A (p.Glu1131Lys)
c.3364G>A (p.Glu1122Lys)
c.3310G>A (p.Glu1104Lys)
c.2710G>A (p.Glu904Lys)
c.3658G>A (p.Glu1220Lys)
c.3655G>A (p.Glu1219Lys)
c.3574G>A (p.Glu1192Lys)
c.3505G>A (p.Glu1169Lys)
c.3373G>A (p.Glu1125Lys)
c.3241G>A (p.Glu1081Lys)
 dbSNP
20g.32436106G>CCA408562970ASXL1c.3394G>C (p.Glu1132Gln)
c.3211G>C (p.Glu1071Gln)
n.5747G>C
c.1869+1525G>C (n.1869+1525G>C)
c.3379G>C (p.Glu1127Gln)
c.3391G>C (p.Glu1131Gln)
c.3364G>C (p.Glu1122Gln)
c.3310G>C (p.Glu1104Gln)
c.2710G>C (p.Glu904Gln)
c.3658G>C (p.Glu1220Gln)
c.3655G>C (p.Glu1219Gln)
c.3574G>C (p.Glu1192Gln)
c.3505G>C (p.Glu1169Gln)
c.3373G>C (p.Glu1125Gln)
c.3241G>C (p.Glu1081Gln)
20g.32436106G>TCA408562971ASXL1c.3394G>T (p.Glu1132Ter)
c.3211G>T (p.Glu1071Ter)
n.5747G>T
c.1869+1525G>T (n.1869+1525G>T)
c.3379G>T (p.Glu1127Ter)
c.3391G>T (p.Glu1131Ter)
c.3364G>T (p.Glu1122Ter)
c.3310G>T (p.Glu1104Ter)
c.2710G>T (p.Glu904Ter)
c.3658G>T (p.Glu1220Ter)
c.3655G>T (p.Glu1219Ter)
c.3574G>T (p.Glu1192Ter)
c.3505G>T (p.Glu1169Ter)
c.3373G>T (p.Glu1125Ter)
c.3241G>T (p.Glu1081Ter)
20g.32436107A>CCA408562972ASXL1c.3395A>C (p.Glu1132Ala)
c.3212A>C (p.Glu1071Ala)
n.5748A>C
c.1869+1526A>C (n.1869+1526A>C)
c.3380A>C (p.Glu1127Ala)
c.3392A>C (p.Glu1131Ala)
c.3365A>C (p.Glu1122Ala)
c.3311A>C (p.Glu1104Ala)
c.2711A>C (p.Glu904Ala)
c.3659A>C (p.Glu1220Ala)
c.3656A>C (p.Glu1219Ala)
c.3575A>C (p.Glu1192Ala)
c.3506A>C (p.Glu1169Ala)
c.3374A>C (p.Glu1125Ala)
c.3242A>C (p.Glu1081Ala)
20g.32436107A>GCA408562973ASXL1c.3395A>G (p.Glu1132Gly)
c.3212A>G (p.Glu1071Gly)
n.5748A>G
c.1869+1526A>G (n.1869+1526A>G)
c.3380A>G (p.Glu1127Gly)
c.3392A>G (p.Glu1131Gly)
c.3365A>G (p.Glu1122Gly)
c.3311A>G (p.Glu1104Gly)
c.2711A>G (p.Glu904Gly)
c.3659A>G (p.Glu1220Gly)
c.3656A>G (p.Glu1219Gly)
c.3575A>G (p.Glu1192Gly)
c.3506A>G (p.Glu1169Gly)
c.3374A>G (p.Glu1125Gly)
c.3242A>G (p.Glu1081Gly)
20g.32436107A>TCA408562974ASXL1c.3395A>T (p.Glu1132Val)
c.3212A>T (p.Glu1071Val)
n.5748A>T
c.1869+1526A>T (n.1869+1526A>T)
c.3380A>T (p.Glu1127Val)
c.3392A>T (p.Glu1131Val)
c.3365A>T (p.Glu1122Val)
c.3311A>T (p.Glu1104Val)
c.2711A>T (p.Glu904Val)
c.3659A>T (p.Glu1220Val)
c.3656A>T (p.Glu1219Val)
c.3575A>T (p.Glu1192Val)
c.3506A>T (p.Glu1169Val)
c.3374A>T (p.Glu1125Val)
c.3242A>T (p.Glu1081Val)
20g.32436107_32436108delCA2736732130ASXL1c.3395_3396del (p.Glu1132ValfsTer?)
c.3212_3213del (p.Glu1071ValfsTer?)
n.5748_5749del
c.1869+1526_1869+1527del (n.1869+1526_1869+1527del)
c.3380_3381del (p.Glu1127ValfsTer?)
c.3392_3393del (p.Glu1131ValfsTer?)
c.3365_3366del (p.Glu1122ValfsTer?)
c.3311_3312del (p.Glu1104ValfsTer?)
c.2711_2712del (p.Glu904ValfsTer?)
c.3659_3660del (p.Glu1220ValfsTer?)
c.3656_3657del (p.Glu1219ValfsTer?)
c.3575_3576del (p.Glu1192ValfsTer?)
c.3506_3507del (p.Glu1169ValfsTer?)
c.3374_3375del (p.Glu1125ValfsTer?)
c.3242_3243del (p.Glu1081ValfsTer?)
 dbSNP
20g.32436108A>CCA408562975ASXL1c.3396A>C (p.Glu1132Asp)
c.3213A>C (p.Glu1071Asp)
n.5749A>C
c.1869+1527A>C (n.1869+1527A>C)
c.3381A>C (p.Glu1127Asp)
c.3393A>C (p.Glu1131Asp)
c.3366A>C (p.Glu1122Asp)
c.3312A>C (p.Glu1104Asp)
c.2712A>C (p.Glu904Asp)
c.3660A>C (p.Glu1220Asp)
c.3657A>C (p.Glu1219Asp)
c.3576A>C (p.Glu1192Asp)
c.3507A>C (p.Glu1169Asp)
c.3375A>C (p.Glu1125Asp)
c.3243A>C (p.Glu1081Asp)
20g.32436108A>GCA510467222ASXL1c.3396A>G (p.Glu1132=)
c.3213A>G (p.Glu1071=)
n.5749A>G
c.1869+1527A>G (n.1869+1527A>G)
c.3381A>G (p.Glu1127=)
c.3393A>G (p.Glu1131=)
c.3366A>G (p.Glu1122=)
c.3312A>G (p.Glu1104=)
c.2712A>G (p.Glu904=)
c.3660A>G (p.Glu1220=)
c.3657A>G (p.Glu1219=)
c.3576A>G (p.Glu1192=)
c.3507A>G (p.Glu1169=)
c.3375A>G (p.Glu1125=)
c.3243A>G (p.Glu1081=)
20g.32436108A>TCA408562976ASXL1c.3396A>T (p.Glu1132Asp)
c.3213A>T (p.Glu1071Asp)
n.5749A>T
c.1869+1527A>T (n.1869+1527A>T)
c.3381A>T (p.Glu1127Asp)
c.3393A>T (p.Glu1131Asp)
c.3366A>T (p.Glu1122Asp)
c.3312A>T (p.Glu1104Asp)
c.2712A>T (p.Glu904Asp)
c.3660A>T (p.Glu1220Asp)
c.3657A>T (p.Glu1219Asp)
c.3576A>T (p.Glu1192Asp)
c.3507A>T (p.Glu1169Asp)
c.3375A>T (p.Glu1125Asp)
c.3243A>T (p.Glu1081Asp)
 gnomAD v4
20g.32436109T>ACA408562977ASXL1c.3397T>A (p.Ser1133Thr)
c.3214T>A (p.Ser1072Thr)
n.5750T>A
c.1869+1528T>A (n.1869+1528T>A)
c.3382T>A (p.Ser1128Thr)
c.3394T>A (p.Ser1132Thr)
c.3367T>A (p.Ser1123Thr)
c.3313T>A (p.Ser1105Thr)
c.2713T>A (p.Ser905Thr)
c.3661T>A (p.Ser1221Thr)
c.3658T>A (p.Ser1220Thr)
c.3577T>A (p.Ser1193Thr)
c.3508T>A (p.Ser1170Thr)
c.3376T>A (p.Ser1126Thr)
c.3244T>A (p.Ser1082Thr)
 dbSNP
20g.32436109T>CCA408562978ASXL1c.3397T>C (p.Ser1133Pro)
c.3214T>C (p.Ser1072Pro)
n.5750T>C
c.1869+1528T>C (n.1869+1528T>C)
c.3382T>C (p.Ser1128Pro)
c.3394T>C (p.Ser1132Pro)
c.3367T>C (p.Ser1123Pro)
c.3313T>C (p.Ser1105Pro)
c.2713T>C (p.Ser905Pro)
c.3661T>C (p.Ser1221Pro)
c.3658T>C (p.Ser1220Pro)
c.3577T>C (p.Ser1193Pro)
c.3508T>C (p.Ser1170Pro)
c.3376T>C (p.Ser1126Pro)
c.3244T>C (p.Ser1082Pro)
 dbSNP
20g.32436109T>GCA408562979ASXL1c.3397T>G (p.Ser1133Ala)
c.3214T>G (p.Ser1072Ala)
n.5750T>G
c.1869+1528T>G (n.1869+1528T>G)
c.3382T>G (p.Ser1128Ala)
c.3394T>G (p.Ser1132Ala)
c.3367T>G (p.Ser1123Ala)
c.3313T>G (p.Ser1105Ala)
c.2713T>G (p.Ser905Ala)
c.3661T>G (p.Ser1221Ala)
c.3658T>G (p.Ser1220Ala)
c.3577T>G (p.Ser1193Ala)
c.3508T>G (p.Ser1170Ala)
c.3376T>G (p.Ser1126Ala)
c.3244T>G (p.Ser1082Ala)
20g.32436109T=CA2360293534ASXL1c.3397T= (p.Ser1133=)
c.3214T= (p.Ser1072=)
n.5750T=
c.1869+1528T= (n.1869+1528T=)
c.3382T= (p.Ser1128=)
c.3394T= (p.Ser1132=)
c.3367T= (p.Ser1123=)
c.3313T= (p.Ser1105=)
c.2713T= (p.Ser905=)
c.3661T= (p.Ser1221=)
c.3658T= (p.Ser1220=)
c.3577T= (p.Ser1193=)
c.3508T= (p.Ser1170=)
c.3376T= (p.Ser1126=)
c.3244T= (p.Ser1082=)
20g.32436110C>ACA408562981ASXL1c.3398C>A (p.Ser1133Tyr)
c.3215C>A (p.Ser1072Tyr)
n.5751C>A
c.1869+1529C>A (n.1869+1529C>A)
c.3383C>A (p.Ser1128Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3368C>A (p.Ser1123Tyr)
c.3314C>A (p.Ser1105Tyr)
c.2714C>A (p.Ser905Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3659C>A (p.Ser1220Tyr)
c.3578C>A (p.Ser1193Tyr)
c.3509C>A (p.Ser1170Tyr)
c.3377C>A (p.Ser1126Tyr)
c.3245C>A (p.Ser1082Tyr)
20g.32436110C=CA2360293535ASXL1c.3398C= (p.Ser1133=)
c.3215C= (p.Ser1072=)
n.5751C=
c.1869+1529C= (n.1869+1529C=)
c.3383C= (p.Ser1128=)
c.3395C= (p.Ser1132=)
c.3368C= (p.Ser1123=)
c.3314C= (p.Ser1105=)
c.2714C= (p.Ser905=)
c.3662C= (p.Ser1221=)
c.3659C= (p.Ser1220=)
c.3578C= (p.Ser1193=)
c.3509C= (p.Ser1170=)
c.3377C= (p.Ser1126=)
c.3245C= (p.Ser1082=)
20g.32436110C>GCA408562982ASXL1c.3398C>G (p.Ser1133Cys)
c.3215C>G (p.Ser1072Cys)
n.5751C>G
c.1869+1529C>G (n.1869+1529C>G)
c.3383C>G (p.Ser1128Cys)
c.3395C>G (p.Ser1132Cys)
c.3368C>G (p.Ser1123Cys)
c.3314C>G (p.Ser1105Cys)
c.2714C>G (p.Ser905Cys)
c.3662C>G (p.Ser1221Cys)
c.3659C>G (p.Ser1220Cys)
c.3578C>G (p.Ser1193Cys)
c.3509C>G (p.Ser1170Cys)
c.3377C>G (p.Ser1126Cys)
c.3245C>G (p.Ser1082Cys)
20g.32436110C>TCA408562980ASXL1c.3398C>T (p.Ser1133Phe)
c.3215C>T (p.Ser1072Phe)
n.5751C>T
c.1869+1529C>T (n.1869+1529C>T)
c.3383C>T (p.Ser1128Phe)
c.3395C>T (p.Ser1132Phe)
c.3368C>T (p.Ser1123Phe)
c.3314C>T (p.Ser1105Phe)
c.2714C>T (p.Ser905Phe)
c.3662C>T (p.Ser1221Phe)
c.3659C>T (p.Ser1220Phe)
c.3578C>T (p.Ser1193Phe)
c.3509C>T (p.Ser1170Phe)
c.3377C>T (p.Ser1126Phe)
c.3245C>T (p.Ser1082Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32436113dupCA313926344ASXL1c.3401dup (p.Gln1135ThrfsTer29)
c.3218dup (p.Gln1074ThrfsTer29)
n.5754dup
c.1869+1532dup (n.1869+1532dup)
c.3386dup (p.Gln1130ThrfsTer29)
c.3398dup (p.Gln1134ThrfsTer29)
c.3371dup (p.Gln1125ThrfsTer29)
c.3317dup (p.Gln1107ThrfsTer29)
c.2717dup (p.Gln907ThrfsTer29)
c.3665dup (p.Gln1223ThrfsTer29)
c.3662dup (p.Gln1222ThrfsTer29)
c.3581dup (p.Gln1195ThrfsTer29)
c.3512dup (p.Gln1172ThrfsTer29)
c.3380dup (p.Gln1128ThrfsTer29)
c.3248dup (p.Gln1084ThrfsTer29)
 dbSNP
20g.32436111C>ACA510467224ASXL1c.3399C>A (p.Ser1133=)
c.3216C>A (p.Ser1072=)
n.5752C>A
c.1869+1530C>A (n.1869+1530C>A)
c.3384C>A (p.Ser1128=)
c.3396C>A (p.Ser1132=)
c.3369C>A (p.Ser1123=)
c.3315C>A (p.Ser1105=)
c.2715C>A (p.Ser905=)
c.3663C>A (p.Ser1221=)
c.3660C>A (p.Ser1220=)
c.3579C>A (p.Ser1193=)
c.3510C>A (p.Ser1170=)
c.3378C>A (p.Ser1126=)
c.3246C>A (p.Ser1082=)
20g.32436111C=CA2360293536ASXL1c.3399C= (p.Ser1133=)
c.3216C= (p.Ser1072=)
n.5752C=
c.1869+1530C= (n.1869+1530C=)
c.3384C= (p.Ser1128=)
c.3396C= (p.Ser1132=)
c.3369C= (p.Ser1123=)
c.3315C= (p.Ser1105=)
c.2715C= (p.Ser905=)
c.3663C= (p.Ser1221=)
c.3660C= (p.Ser1220=)
c.3579C= (p.Ser1193=)
c.3510C= (p.Ser1170=)
c.3378C= (p.Ser1126=)
c.3246C= (p.Ser1082=)
20g.32436111C>GCA9808810ASXL1c.3399C>G (p.Ser1133=)
c.3216C>G (p.Ser1072=)
n.5752C>G
c.1869+1530C>G (n.1869+1530C>G)
c.3384C>G (p.Ser1128=)
c.3396C>G (p.Ser1132=)
c.3369C>G (p.Ser1123=)
c.3315C>G (p.Ser1105=)
c.2715C>G (p.Ser905=)
c.3663C>G (p.Ser1221=)
c.3660C>G (p.Ser1220=)
c.3579C>G (p.Ser1193=)
c.3510C>G (p.Ser1170=)
c.3378C>G (p.Ser1126=)
c.3246C>G (p.Ser1082=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436111C>TCA510467223ASXL1c.3399C>T (p.Ser1133=)
c.3216C>T (p.Ser1072=)
n.5752C>T
c.1869+1530C>T (n.1869+1530C>T)
c.3384C>T (p.Ser1128=)
c.3396C>T (p.Ser1132=)
c.3369C>T (p.Ser1123=)
c.3315C>T (p.Ser1105=)
c.2715C>T (p.Ser905=)
c.3663C>T (p.Ser1221=)
c.3660C>T (p.Ser1220=)
c.3579C>T (p.Ser1193=)
c.3510C>T (p.Ser1170=)
c.3378C>T (p.Ser1126=)
c.3246C>T (p.Ser1082=)
 gnomAD v4 COSMIC COSMIC
20g.32436112C>ACA408562983ASXL1c.3400C>A (p.Pro1134Thr)
c.3217C>A (p.Pro1073Thr)
n.5753C>A
c.1869+1531C>A (n.1869+1531C>A)
c.3385C>A (p.Pro1129Thr)
c.3397C>A (p.Pro1133Thr)
c.3370C>A (p.Pro1124Thr)
c.3316C>A (p.Pro1106Thr)
c.2716C>A (p.Pro906Thr)
c.3664C>A (p.Pro1222Thr)
c.3661C>A (p.Pro1221Thr)
c.3580C>A (p.Pro1194Thr)
c.3511C>A (p.Pro1171Thr)
c.3379C>A (p.Pro1127Thr)
c.3247C>A (p.Pro1083Thr)
20g.32436112C=CA2360293537ASXL1c.3400C= (p.Pro1134=)
c.3217C= (p.Pro1073=)
n.5753C=
c.1869+1531C= (n.1869+1531C=)
c.3385C= (p.Pro1129=)
c.3397C= (p.Pro1133=)
c.3370C= (p.Pro1124=)
c.3316C= (p.Pro1106=)
c.2716C= (p.Pro906=)
c.3664C= (p.Pro1222=)
c.3661C= (p.Pro1221=)
c.3580C= (p.Pro1194=)
c.3511C= (p.Pro1171=)
c.3379C= (p.Pro1127=)
c.3247C= (p.Pro1083=)
20g.32436112C>GCA408562984ASXL1c.3400C>G (p.Pro1134Ala)
c.3217C>G (p.Pro1073Ala)
n.5753C>G
c.1869+1531C>G (n.1869+1531C>G)
c.3385C>G (p.Pro1129Ala)
c.3397C>G (p.Pro1133Ala)
c.3370C>G (p.Pro1124Ala)
c.3316C>G (p.Pro1106Ala)
c.2716C>G (p.Pro906Ala)
c.3664C>G (p.Pro1222Ala)
c.3661C>G (p.Pro1221Ala)
c.3580C>G (p.Pro1194Ala)
c.3511C>G (p.Pro1171Ala)
c.3379C>G (p.Pro1127Ala)
c.3247C>G (p.Pro1083Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.32436112C>TCA408562985ASXL1c.3400C>T (p.Pro1134Ser)
c.3217C>T (p.Pro1073Ser)
n.5753C>T
c.1869+1531C>T (n.1869+1531C>T)
c.3385C>T (p.Pro1129Ser)
c.3397C>T (p.Pro1133Ser)
c.3370C>T (p.Pro1124Ser)
c.3316C>T (p.Pro1106Ser)
c.2716C>T (p.Pro906Ser)
c.3664C>T (p.Pro1222Ser)
c.3661C>T (p.Pro1221Ser)
c.3580C>T (p.Pro1194Ser)
c.3511C>T (p.Pro1171Ser)
c.3379C>T (p.Pro1127Ser)
c.3247C>T (p.Pro1083Ser)
20g.32436113_32436115delCA2652401199ASXL1c.3401_3403del (p.Pro1134del)
c.3218_3220del (p.Pro1073del)
n.5754_5756del
c.1869+1532_1869+1534del (n.1869+1532_1869+1534del)
c.3386_3388del (p.Pro1129del)
c.3398_3400del (p.Pro1133del)
c.3371_3373del (p.Pro1124del)
c.3317_3319del (p.Pro1106del)
c.2717_2719del (p.Pro906del)
c.3665_3667del (p.Pro1222del)
c.3662_3664del (p.Pro1221del)
c.3581_3583del (p.Pro1194del)
c.3512_3514del (p.Pro1171del)
c.3380_3382del (p.Pro1127del)
c.3248_3250del (p.Pro1083del)
 gnomAD v4
20g.32436113C>ACA408562986ASXL1c.3401C>A (p.Pro1134Gln)
c.3218C>A (p.Pro1073Gln)
n.5754C>A
c.1869+1532C>A (n.1869+1532C>A)
c.3386C>A (p.Pro1129Gln)
c.3398C>A (p.Pro1133Gln)
c.3371C>A (p.Pro1124Gln)
c.3317C>A (p.Pro1106Gln)
c.2717C>A (p.Pro906Gln)
c.3665C>A (p.Pro1222Gln)
c.3662C>A (p.Pro1221Gln)
c.3581C>A (p.Pro1194Gln)
c.3512C>A (p.Pro1171Gln)
c.3380C>A (p.Pro1127Gln)
c.3248C>A (p.Pro1083Gln)
20g.32436113C=CA2360293538ASXL1c.3401C= (p.Pro1134=)
c.3218C= (p.Pro1073=)
n.5754C=
c.1869+1532C= (n.1869+1532C=)
c.3386C= (p.Pro1129=)
c.3398C= (p.Pro1133=)
c.3371C= (p.Pro1124=)
c.3317C= (p.Pro1106=)
c.2717C= (p.Pro906=)
c.3665C= (p.Pro1222=)
c.3662C= (p.Pro1221=)
c.3581C= (p.Pro1194=)
c.3512C= (p.Pro1171=)
c.3380C= (p.Pro1127=)
c.3248C= (p.Pro1083=)
20g.32436113C>GCA408562987ASXL1c.3401C>G (p.Pro1134Arg)
c.3218C>G (p.Pro1073Arg)
n.5754C>G
c.1869+1532C>G (n.1869+1532C>G)
c.3386C>G (p.Pro1129Arg)
c.3398C>G (p.Pro1133Arg)
c.3371C>G (p.Pro1124Arg)
c.3317C>G (p.Pro1106Arg)
c.2717C>G (p.Pro906Arg)
c.3665C>G (p.Pro1222Arg)
c.3662C>G (p.Pro1221Arg)
c.3581C>G (p.Pro1194Arg)
c.3512C>G (p.Pro1171Arg)
c.3380C>G (p.Pro1127Arg)
c.3248C>G (p.Pro1083Arg)
20g.32436113C>TCA9808811ASXL1c.3401C>T (p.Pro1134Leu)
c.3218C>T (p.Pro1073Leu)
n.5754C>T
c.1869+1532C>T (n.1869+1532C>T)
c.3386C>T (p.Pro1129Leu)
c.3398C>T (p.Pro1133Leu)
c.3371C>T (p.Pro1124Leu)
c.3317C>T (p.Pro1106Leu)
c.2717C>T (p.Pro906Leu)
c.3665C>T (p.Pro1222Leu)
c.3662C>T (p.Pro1221Leu)
c.3581C>T (p.Pro1194Leu)
c.3512C>T (p.Pro1171Leu)
c.3380C>T (p.Pro1127Leu)
c.3248C>T (p.Pro1083Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436114A>CCA510467225ASXL1c.3402A>C (p.Pro1134=)
c.3219A>C (p.Pro1073=)
n.5755A>C
c.1869+1533A>C (n.1869+1533A>C)
c.3387A>C (p.Pro1129=)
c.3399A>C (p.Pro1133=)
c.3372A>C (p.Pro1124=)
c.3318A>C (p.Pro1106=)
c.2718A>C (p.Pro906=)
c.3666A>C (p.Pro1222=)
c.3663A>C (p.Pro1221=)
c.3582A>C (p.Pro1194=)
c.3513A>C (p.Pro1171=)
c.3381A>C (p.Pro1127=)
c.3249A>C (p.Pro1083=)
20g.32436114A>GCA510467226ASXL1c.3402A>G (p.Pro1134=)
c.3219A>G (p.Pro1073=)
n.5755A>G
c.1869+1533A>G (n.1869+1533A>G)
c.3387A>G (p.Pro1129=)
c.3399A>G (p.Pro1133=)
c.3372A>G (p.Pro1124=)
c.3318A>G (p.Pro1106=)
c.2718A>G (p.Pro906=)
c.3666A>G (p.Pro1222=)
c.3663A>G (p.Pro1221=)
c.3582A>G (p.Pro1194=)
c.3513A>G (p.Pro1171=)
c.3381A>G (p.Pro1127=)
c.3249A>G (p.Pro1083=)
20g.32436114A>TCA510467227ASXL1c.3402A>T (p.Pro1134=)
c.3219A>T (p.Pro1073=)
n.5755A>T
c.1869+1533A>T (n.1869+1533A>T)
c.3387A>T (p.Pro1129=)
c.3399A>T (p.Pro1133=)
c.3372A>T (p.Pro1124=)
c.3318A>T (p.Pro1106=)
c.2718A>T (p.Pro906=)
c.3666A>T (p.Pro1222=)
c.3663A>T (p.Pro1221=)
c.3582A>T (p.Pro1194=)
c.3513A>T (p.Pro1171=)
c.3381A>T (p.Pro1127=)
c.3249A>T (p.Pro1083=)
 gnomAD v4
20g.32436115delCA2577366299ASXL1c.3403del (p.Gln1135LysfsTer?)
c.3220del (p.Gln1074LysfsTer?)
n.5756del
c.1869+1534del (n.1869+1534del)
c.3388del (p.Gln1130LysfsTer?)
c.3400del (p.Gln1134LysfsTer?)
c.3373del (p.Gln1125LysfsTer?)
c.3319del (p.Gln1107LysfsTer?)
c.2719del (p.Gln907LysfsTer?)
c.3667del (p.Gln1223LysfsTer?)
c.3664del (p.Gln1222LysfsTer?)
c.3583del (p.Gln1195LysfsTer?)
c.3514del (p.Gln1172LysfsTer?)
c.3382del (p.Gln1128LysfsTer?)
c.3250del (p.Gln1084LysfsTer?)
20g.32436115C>ACA408562988ASXL1c.3403C>A (p.Gln1135Lys)
c.3220C>A (p.Gln1074Lys)
n.5756C>A
c.1869+1534C>A (n.1869+1534C>A)
c.3388C>A (p.Gln1130Lys)
c.3400C>A (p.Gln1134Lys)
c.3373C>A (p.Gln1125Lys)
c.3319C>A (p.Gln1107Lys)
c.2719C>A (p.Gln907Lys)
c.3667C>A (p.Gln1223Lys)
c.3664C>A (p.Gln1222Lys)
c.3583C>A (p.Gln1195Lys)
c.3514C>A (p.Gln1172Lys)
c.3382C>A (p.Gln1128Lys)
c.3250C>A (p.Gln1084Lys)
20g.32436115C=CA2360293539ASXL1c.3403C= (p.Gln1135=)
c.3220C= (p.Gln1074=)
n.5756C=
c.1869+1534C= (n.1869+1534C=)
c.3388C= (p.Gln1130=)
c.3400C= (p.Gln1134=)
c.3373C= (p.Gln1125=)
c.3319C= (p.Gln1107=)
c.2719C= (p.Gln907=)
c.3667C= (p.Gln1223=)
c.3664C= (p.Gln1222=)
c.3583C= (p.Gln1195=)
c.3514C= (p.Gln1172=)
c.3382C= (p.Gln1128=)
c.3250C= (p.Gln1084=)
20g.32436115C>GCA408562989ASXL1c.3403C>G (p.Gln1135Glu)
c.3220C>G (p.Gln1074Glu)
n.5756C>G
c.1869+1534C>G (n.1869+1534C>G)
c.3388C>G (p.Gln1130Glu)
c.3400C>G (p.Gln1134Glu)
c.3373C>G (p.Gln1125Glu)
c.3319C>G (p.Gln1107Glu)
c.2719C>G (p.Gln907Glu)
c.3667C>G (p.Gln1223Glu)
c.3664C>G (p.Gln1222Glu)
c.3583C>G (p.Gln1195Glu)
c.3514C>G (p.Gln1172Glu)
c.3382C>G (p.Gln1128Glu)
c.3250C>G (p.Gln1084Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436115C>TCA408562990ASXL1c.3403C>T (p.Gln1135Ter)
c.3220C>T (p.Gln1074Ter)
n.5756C>T
c.1869+1534C>T (n.1869+1534C>T)
c.3388C>T (p.Gln1130Ter)
c.3400C>T (p.Gln1134Ter)
c.3373C>T (p.Gln1125Ter)
c.3319C>T (p.Gln1107Ter)
c.2719C>T (p.Gln907Ter)
c.3667C>T (p.Gln1223Ter)
c.3664C>T (p.Gln1222Ter)
c.3583C>T (p.Gln1195Ter)
c.3514C>T (p.Gln1172Ter)
c.3382C>T (p.Gln1128Ter)
c.3250C>T (p.Gln1084Ter)
20g.32436116A=CA2360293540ASXL1c.3404A= (p.Gln1135=)
c.3221A= (p.Gln1074=)
n.5757A=
c.1869+1535A= (n.1869+1535A=)
c.3389A= (p.Gln1130=)
c.3401A= (p.Gln1134=)
c.3374A= (p.Gln1125=)
c.3320A= (p.Gln1107=)
c.2720A= (p.Gln907=)
c.3668A= (p.Gln1223=)
c.3665A= (p.Gln1222=)
c.3584A= (p.Gln1195=)
c.3515A= (p.Gln1172=)
c.3383A= (p.Gln1128=)
c.3251A= (p.Gln1084=)
20g.32436116A>CCA408562991ASXL1c.3404A>C (p.Gln1135Pro)
c.3221A>C (p.Gln1074Pro)
n.5757A>C
c.1869+1535A>C (n.1869+1535A>C)
c.3389A>C (p.Gln1130Pro)
c.3401A>C (p.Gln1134Pro)
c.3374A>C (p.Gln1125Pro)
c.3320A>C (p.Gln1107Pro)
c.2720A>C (p.Gln907Pro)
c.3668A>C (p.Gln1223Pro)
c.3665A>C (p.Gln1222Pro)
c.3584A>C (p.Gln1195Pro)
c.3515A>C (p.Gln1172Pro)
c.3383A>C (p.Gln1128Pro)
c.3251A>C (p.Gln1084Pro)
20g.32436116A>GCA9808812ASXL1c.3404A>G (p.Gln1135Arg)
c.3221A>G (p.Gln1074Arg)
n.5757A>G
c.1869+1535A>G (n.1869+1535A>G)
c.3389A>G (p.Gln1130Arg)
c.3401A>G (p.Gln1134Arg)
c.3374A>G (p.Gln1125Arg)
c.3320A>G (p.Gln1107Arg)
c.2720A>G (p.Gln907Arg)
c.3668A>G (p.Gln1223Arg)
c.3665A>G (p.Gln1222Arg)
c.3584A>G (p.Gln1195Arg)
c.3515A>G (p.Gln1172Arg)
c.3383A>G (p.Gln1128Arg)
c.3251A>G (p.Gln1084Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436116A>TCA408562992ASXL1c.3404A>T (p.Gln1135Leu)
c.3221A>T (p.Gln1074Leu)
n.5757A>T
c.1869+1535A>T (n.1869+1535A>T)
c.3389A>T (p.Gln1130Leu)
c.3401A>T (p.Gln1134Leu)
c.3374A>T (p.Gln1125Leu)
c.3320A>T (p.Gln1107Leu)
c.2720A>T (p.Gln907Leu)
c.3668A>T (p.Gln1223Leu)
c.3665A>T (p.Gln1222Leu)
c.3584A>T (p.Gln1195Leu)
c.3515A>T (p.Gln1172Leu)
c.3383A>T (p.Gln1128Leu)
c.3251A>T (p.Gln1084Leu)
20g.32436117A=CA2360293541ASXL1c.3405A= (p.Gln1135=)
c.3222A= (p.Gln1074=)
n.5758A=
c.1869+1536A= (n.1869+1536A=)
c.3390A= (p.Gln1130=)
c.3402A= (p.Gln1134=)
c.3375A= (p.Gln1125=)
c.3321A= (p.Gln1107=)
c.2721A= (p.Gln907=)
c.3669A= (p.Gln1223=)
c.3666A= (p.Gln1222=)
c.3585A= (p.Gln1195=)
c.3516A= (p.Gln1172=)
c.3384A= (p.Gln1128=)
c.3252A= (p.Gln1084=)
20g.32436117A>CCA408562994ASXL1c.3405A>C (p.Gln1135His)
c.3222A>C (p.Gln1074His)
n.5758A>C
c.1869+1536A>C (n.1869+1536A>C)
c.3390A>C (p.Gln1130His)
c.3402A>C (p.Gln1134His)
c.3375A>C (p.Gln1125His)
c.3321A>C (p.Gln1107His)
c.2721A>C (p.Gln907His)
c.3669A>C (p.Gln1223His)
c.3666A>C (p.Gln1222His)
c.3585A>C (p.Gln1195His)
c.3516A>C (p.Gln1172His)
c.3384A>C (p.Gln1128His)
c.3252A>C (p.Gln1084His)
20g.32436117A>GCA9808813ASXL1c.3405A>G (p.Gln1135=)
c.3222A>G (p.Gln1074=)
n.5758A>G
c.1869+1536A>G (n.1869+1536A>G)
c.3390A>G (p.Gln1130=)
c.3402A>G (p.Gln1134=)
c.3375A>G (p.Gln1125=)
c.3321A>G (p.Gln1107=)
c.2721A>G (p.Gln907=)
c.3669A>G (p.Gln1223=)
c.3666A>G (p.Gln1222=)
c.3585A>G (p.Gln1195=)
c.3516A>G (p.Gln1172=)
c.3384A>G (p.Gln1128=)
c.3252A>G (p.Gln1084=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436117A>TCA408562993ASXL1c.3405A>T (p.Gln1135His)
c.3222A>T (p.Gln1074His)
n.5758A>T
c.1869+1536A>T (n.1869+1536A>T)
c.3390A>T (p.Gln1130His)
c.3402A>T (p.Gln1134His)
c.3375A>T (p.Gln1125His)
c.3321A>T (p.Gln1107His)
c.2721A>T (p.Gln907His)
c.3669A>T (p.Gln1223His)
c.3666A>T (p.Gln1222His)
c.3585A>T (p.Gln1195His)
c.3516A>T (p.Gln1172His)
c.3384A>T (p.Gln1128His)
c.3252A>T (p.Gln1084His)
20g.32436118G>ACA408562995ASXL1c.3406G>A (p.Val1136Ile)
c.3223G>A (p.Val1075Ile)
n.5759G>A
c.1869+1537G>A (n.1869+1537G>A)
c.3391G>A (p.Val1131Ile)
c.3403G>A (p.Val1135Ile)
c.3376G>A (p.Val1126Ile)
c.3322G>A (p.Val1108Ile)
c.2722G>A (p.Val908Ile)
c.3670G>A (p.Val1224Ile)
c.3667G>A (p.Val1223Ile)
c.3586G>A (p.Val1196Ile)
c.3517G>A (p.Val1173Ile)
c.3385G>A (p.Val1129Ile)
c.3253G>A (p.Val1085Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.32436118G>CCA9808814ASXL1c.3406G>C (p.Val1136Leu)
c.3223G>C (p.Val1075Leu)
n.5759G>C
c.1869+1537G>C (n.1869+1537G>C)
c.3391G>C (p.Val1131Leu)
c.3403G>C (p.Val1135Leu)
c.3376G>C (p.Val1126Leu)
c.3322G>C (p.Val1108Leu)
c.2722G>C (p.Val908Leu)
c.3670G>C (p.Val1224Leu)
c.3667G>C (p.Val1223Leu)
c.3586G>C (p.Val1196Leu)
c.3517G>C (p.Val1173Leu)
c.3385G>C (p.Val1129Leu)
c.3253G>C (p.Val1085Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436118G=CA2360293542ASXL1c.3406G= (p.Val1136=)
c.3223G= (p.Val1075=)
n.5759G=
c.1869+1537G= (n.1869+1537G=)
c.3391G= (p.Val1131=)
c.3403G= (p.Val1135=)
c.3376G= (p.Val1126=)
c.3322G= (p.Val1108=)
c.2722G= (p.Val908=)
c.3670G= (p.Val1224=)
c.3667G= (p.Val1223=)
c.3586G= (p.Val1196=)
c.3517G= (p.Val1173=)
c.3385G= (p.Val1129=)
c.3253G= (p.Val1085=)
20g.32436118G>TCA408562996ASXL1c.3406G>T (p.Val1136Leu)
c.3223G>T (p.Val1075Leu)
n.5759G>T
c.1869+1537G>T (n.1869+1537G>T)
c.3391G>T (p.Val1131Leu)
c.3403G>T (p.Val1135Leu)
c.3376G>T (p.Val1126Leu)
c.3322G>T (p.Val1108Leu)
c.2722G>T (p.Val908Leu)
c.3670G>T (p.Val1224Leu)
c.3667G>T (p.Val1223Leu)
c.3586G>T (p.Val1196Leu)
c.3517G>T (p.Val1173Leu)
c.3385G>T (p.Val1129Leu)
c.3253G>T (p.Val1085Leu)
20g.32436119T>ACA408562997ASXL1c.3407T>A (p.Val1136Glu)
c.3224T>A (p.Val1075Glu)
n.5760T>A
c.1869+1538T>A (n.1869+1538T>A)
c.3392T>A (p.Val1131Glu)
c.3404T>A (p.Val1135Glu)
c.3377T>A (p.Val1126Glu)
c.3323T>A (p.Val1108Glu)
c.2723T>A (p.Val908Glu)
c.3671T>A (p.Val1224Glu)
c.3668T>A (p.Val1223Glu)
c.3587T>A (p.Val1196Glu)
c.3518T>A (p.Val1173Glu)
c.3386T>A (p.Val1129Glu)
c.3254T>A (p.Val1085Glu)
 dbSNP
20g.32436119T>CCA408562998ASXL1c.3407T>C (p.Val1136Ala)
c.3224T>C (p.Val1075Ala)
n.5760T>C
c.1869+1538T>C (n.1869+1538T>C)
c.3392T>C (p.Val1131Ala)
c.3404T>C (p.Val1135Ala)
c.3377T>C (p.Val1126Ala)
c.3323T>C (p.Val1108Ala)
c.2723T>C (p.Val908Ala)
c.3671T>C (p.Val1224Ala)
c.3668T>C (p.Val1223Ala)
c.3587T>C (p.Val1196Ala)
c.3518T>C (p.Val1173Ala)
c.3386T>C (p.Val1129Ala)
c.3254T>C (p.Val1085Ala)
20g.32436119T>GCA408562999ASXL1c.3407T>G (p.Val1136Gly)
c.3224T>G (p.Val1075Gly)
n.5760T>G
c.1869+1538T>G (n.1869+1538T>G)
c.3392T>G (p.Val1131Gly)
c.3404T>G (p.Val1135Gly)
c.3377T>G (p.Val1126Gly)
c.3323T>G (p.Val1108Gly)
c.2723T>G (p.Val908Gly)
c.3671T>G (p.Val1224Gly)
c.3668T>G (p.Val1223Gly)
c.3587T>G (p.Val1196Gly)
c.3518T>G (p.Val1173Gly)
c.3386T>G (p.Val1129Gly)
c.3254T>G (p.Val1085Gly)
20g.32436120A>CCA510467228ASXL1c.3408A>C (p.Val1136=)
c.3225A>C (p.Val1075=)
n.5761A>C
c.1869+1539A>C (n.1869+1539A>C)
c.3393A>C (p.Val1131=)
c.3405A>C (p.Val1135=)
c.3378A>C (p.Val1126=)
c.3324A>C (p.Val1108=)
c.2724A>C (p.Val908=)
c.3672A>C (p.Val1224=)
c.3669A>C (p.Val1223=)
c.3588A>C (p.Val1196=)
c.3519A>C (p.Val1173=)
c.3387A>C (p.Val1129=)
c.3255A>C (p.Val1085=)
20g.32436120A>GCA510467229ASXL1c.3408A>G (p.Val1136=)
c.3225A>G (p.Val1075=)
n.5761A>G
c.1869+1539A>G (n.1869+1539A>G)
c.3393A>G (p.Val1131=)
c.3405A>G (p.Val1135=)
c.3378A>G (p.Val1126=)
c.3324A>G (p.Val1108=)
c.2724A>G (p.Val908=)
c.3672A>G (p.Val1224=)
c.3669A>G (p.Val1223=)
c.3588A>G (p.Val1196=)
c.3519A>G (p.Val1173=)
c.3387A>G (p.Val1129=)
c.3255A>G (p.Val1085=)
 gnomAD v4
20g.32436120A>TCA510467230ASXL1c.3408A>T (p.Val1136=)
c.3225A>T (p.Val1075=)
n.5761A>T
c.1869+1539A>T (n.1869+1539A>T)
c.3393A>T (p.Val1131=)
c.3405A>T (p.Val1135=)
c.3378A>T (p.Val1126=)
c.3324A>T (p.Val1108=)
c.2724A>T (p.Val908=)
c.3672A>T (p.Val1224=)
c.3669A>T (p.Val1223=)
c.3588A>T (p.Val1196=)
c.3519A>T (p.Val1173=)
c.3387A>T (p.Val1129=)
c.3255A>T (p.Val1085=)
20g.32436121C>ACA408563000ASXL1c.3409C>A (p.Pro1137Thr)
c.3226C>A (p.Pro1076Thr)
n.5762C>A
c.1869+1540C>A (n.1869+1540C>A)
c.3394C>A (p.Pro1132Thr)
c.3406C>A (p.Pro1136Thr)
c.3379C>A (p.Pro1127Thr)
c.3325C>A (p.Pro1109Thr)
c.2725C>A (p.Pro909Thr)
c.3673C>A (p.Pro1225Thr)
c.3670C>A (p.Pro1224Thr)
c.3589C>A (p.Pro1197Thr)
c.3520C>A (p.Pro1174Thr)
c.3388C>A (p.Pro1130Thr)
c.3256C>A (p.Pro1086Thr)
 dbSNP
20g.32436121C>GCA408563001ASXL1c.3409C>G (p.Pro1137Ala)
c.3226C>G (p.Pro1076Ala)
n.5762C>G
c.1869+1540C>G (n.1869+1540C>G)
c.3394C>G (p.Pro1132Ala)
c.3406C>G (p.Pro1136Ala)
c.3379C>G (p.Pro1127Ala)
c.3325C>G (p.Pro1109Ala)
c.2725C>G (p.Pro909Ala)
c.3673C>G (p.Pro1225Ala)
c.3670C>G (p.Pro1224Ala)
c.3589C>G (p.Pro1197Ala)
c.3520C>G (p.Pro1174Ala)
c.3388C>G (p.Pro1130Ala)
c.3256C>G (p.Pro1086Ala)
20g.32436121C>TCA408563002ASXL1c.3409C>T (p.Pro1137Ser)
c.3226C>T (p.Pro1076Ser)
n.5762C>T
c.1869+1540C>T (n.1869+1540C>T)
c.3394C>T (p.Pro1132Ser)
c.3406C>T (p.Pro1136Ser)
c.3379C>T (p.Pro1127Ser)
c.3325C>T (p.Pro1109Ser)
c.2725C>T (p.Pro909Ser)
c.3673C>T (p.Pro1225Ser)
c.3670C>T (p.Pro1224Ser)
c.3589C>T (p.Pro1197Ser)
c.3520C>T (p.Pro1174Ser)
c.3388C>T (p.Pro1130Ser)
c.3256C>T (p.Pro1086Ser)
20g.32436122C>ACA408563003ASXL1c.3410C>A (p.Pro1137Gln)
c.3227C>A (p.Pro1076Gln)
n.5763C>A
c.1869+1541C>A (n.1869+1541C>A)
c.3395C>A (p.Pro1132Gln)
c.3407C>A (p.Pro1136Gln)
c.3380C>A (p.Pro1127Gln)
c.3326C>A (p.Pro1109Gln)
c.2726C>A (p.Pro909Gln)
c.3674C>A (p.Pro1225Gln)
c.3671C>A (p.Pro1224Gln)
c.3590C>A (p.Pro1197Gln)
c.3521C>A (p.Pro1174Gln)
c.3389C>A (p.Pro1130Gln)
c.3257C>A (p.Pro1086Gln)
20g.32436122C=CA2360293543ASXL1c.3410C= (p.Pro1137=)
c.3227C= (p.Pro1076=)
n.5763C=
c.1869+1541C= (n.1869+1541C=)
c.3395C= (p.Pro1132=)
c.3407C= (p.Pro1136=)
c.3380C= (p.Pro1127=)
c.3326C= (p.Pro1109=)
c.2726C= (p.Pro909=)
c.3674C= (p.Pro1225=)
c.3671C= (p.Pro1224=)
c.3590C= (p.Pro1197=)
c.3521C= (p.Pro1174=)
c.3389C= (p.Pro1130=)
c.3257C= (p.Pro1086=)
20g.32436122C>GCA408563004ASXL1c.3410C>G (p.Pro1137Arg)
c.3227C>G (p.Pro1076Arg)
n.5763C>G
c.1869+1541C>G (n.1869+1541C>G)
c.3395C>G (p.Pro1132Arg)
c.3407C>G (p.Pro1136Arg)
c.3380C>G (p.Pro1127Arg)
c.3326C>G (p.Pro1109Arg)
c.2726C>G (p.Pro909Arg)
c.3674C>G (p.Pro1225Arg)
c.3671C>G (p.Pro1224Arg)
c.3590C>G (p.Pro1197Arg)
c.3521C>G (p.Pro1174Arg)
c.3389C>G (p.Pro1130Arg)
c.3257C>G (p.Pro1086Arg)
20g.32436122C>TCA408563005ASXL1c.3410C>T (p.Pro1137Leu)
c.3227C>T (p.Pro1076Leu)
n.5763C>T
c.1869+1541C>T (n.1869+1541C>T)
c.3395C>T (p.Pro1132Leu)
c.3407C>T (p.Pro1136Leu)
c.3380C>T (p.Pro1127Leu)
c.3326C>T (p.Pro1109Leu)
c.2726C>T (p.Pro909Leu)
c.3674C>T (p.Pro1225Leu)
c.3671C>T (p.Pro1224Leu)
c.3590C>T (p.Pro1197Leu)
c.3521C>T (p.Pro1174Leu)
c.3389C>T (p.Pro1130Leu)
c.3257C>T (p.Pro1086Leu)
 dbSNP gnomAD v4
20g.32436123A>CCA510467231ASXL1c.3411A>C (p.Pro1137=)
c.3228A>C (p.Pro1076=)
n.5764A>C
c.1869+1542A>C (n.1869+1542A>C)
c.3396A>C (p.Pro1132=)
c.3408A>C (p.Pro1136=)
c.3381A>C (p.Pro1127=)
c.3327A>C (p.Pro1109=)
c.2727A>C (p.Pro909=)
c.3675A>C (p.Pro1225=)
c.3672A>C (p.Pro1224=)
c.3591A>C (p.Pro1197=)
c.3522A>C (p.Pro1174=)
c.3390A>C (p.Pro1130=)
c.3258A>C (p.Pro1086=)
20g.32436123A>GCA510467232ASXL1c.3411A>G (p.Pro1137=)
c.3228A>G (p.Pro1076=)
n.5764A>G
c.1869+1542A>G (n.1869+1542A>G)
c.3396A>G (p.Pro1132=)
c.3408A>G (p.Pro1136=)
c.3381A>G (p.Pro1127=)
c.3327A>G (p.Pro1109=)
c.2727A>G (p.Pro909=)
c.3675A>G (p.Pro1225=)
c.3672A>G (p.Pro1224=)
c.3591A>G (p.Pro1197=)
c.3522A>G (p.Pro1174=)
c.3390A>G (p.Pro1130=)
c.3258A>G (p.Pro1086=)
20g.32436123A>TCA510467233ASXL1c.3411A>T (p.Pro1137=)
c.3228A>T (p.Pro1076=)
n.5764A>T
c.1869+1542A>T (n.1869+1542A>T)
c.3396A>T (p.Pro1132=)
c.3408A>T (p.Pro1136=)
c.3381A>T (p.Pro1127=)
c.3327A>T (p.Pro1109=)
c.2727A>T (p.Pro909=)
c.3675A>T (p.Pro1225=)
c.3672A>T (p.Pro1224=)
c.3591A>T (p.Pro1197=)
c.3522A>T (p.Pro1174=)
c.3390A>T (p.Pro1130=)
c.3258A>T (p.Pro1086=)
20g.32436124C>ACA408563006ASXL1c.3412C>A (p.Leu1138Ile)
c.3229C>A (p.Leu1077Ile)
n.5765C>A
c.1869+1543C>A (n.1869+1543C>A)
c.3397C>A (p.Leu1133Ile)
c.3409C>A (p.Leu1137Ile)
c.3382C>A (p.Leu1128Ile)
c.3328C>A (p.Leu1110Ile)
c.2728C>A (p.Leu910Ile)
c.3676C>A (p.Leu1226Ile)
c.3673C>A (p.Leu1225Ile)
c.3592C>A (p.Leu1198Ile)
c.3523C>A (p.Leu1175Ile)
c.3391C>A (p.Leu1131Ile)
c.3259C>A (p.Leu1087Ile)
20g.32436124C>GCA408563008ASXL1c.3412C>G (p.Leu1138Val)
c.3229C>G (p.Leu1077Val)
n.5765C>G
c.1869+1543C>G (n.1869+1543C>G)
c.3397C>G (p.Leu1133Val)
c.3409C>G (p.Leu1137Val)
c.3382C>G (p.Leu1128Val)
c.3328C>G (p.Leu1110Val)
c.2728C>G (p.Leu910Val)
c.3676C>G (p.Leu1226Val)
c.3673C>G (p.Leu1225Val)
c.3592C>G (p.Leu1198Val)
c.3523C>G (p.Leu1175Val)
c.3391C>G (p.Leu1131Val)
c.3259C>G (p.Leu1087Val)
20g.32436124C>TCA408563007ASXL1c.3412C>T (p.Leu1138Phe)
c.3229C>T (p.Leu1077Phe)
n.5765C>T
c.1869+1543C>T (n.1869+1543C>T)
c.3397C>T (p.Leu1133Phe)
c.3409C>T (p.Leu1137Phe)
c.3382C>T (p.Leu1128Phe)
c.3328C>T (p.Leu1110Phe)
c.2728C>T (p.Leu910Phe)
c.3676C>T (p.Leu1226Phe)
c.3673C>T (p.Leu1225Phe)
c.3592C>T (p.Leu1198Phe)
c.3523C>T (p.Leu1175Phe)
c.3391C>T (p.Leu1131Phe)
c.3259C>T (p.Leu1087Phe)
20g.32436125T>ACA408563009ASXL1c.3413T>A (p.Leu1138His)
c.3230T>A (p.Leu1077His)
n.5766T>A
c.1869+1544T>A (n.1869+1544T>A)
c.3398T>A (p.Leu1133His)
c.3410T>A (p.Leu1137His)
c.3383T>A (p.Leu1128His)
c.3329T>A (p.Leu1110His)
c.2729T>A (p.Leu910His)
c.3677T>A (p.Leu1226His)
c.3674T>A (p.Leu1225His)
c.3593T>A (p.Leu1198His)
c.3524T>A (p.Leu1175His)
c.3392T>A (p.Leu1131His)
c.3260T>A (p.Leu1087His)
20g.32436125T>CCA408563010ASXL1c.3413T>C (p.Leu1138Pro)
c.3230T>C (p.Leu1077Pro)
n.5766T>C
c.1869+1544T>C (n.1869+1544T>C)
c.3398T>C (p.Leu1133Pro)
c.3410T>C (p.Leu1137Pro)
c.3383T>C (p.Leu1128Pro)
c.3329T>C (p.Leu1110Pro)
c.2729T>C (p.Leu910Pro)
c.3677T>C (p.Leu1226Pro)
c.3674T>C (p.Leu1225Pro)
c.3593T>C (p.Leu1198Pro)
c.3524T>C (p.Leu1175Pro)
c.3392T>C (p.Leu1131Pro)
c.3260T>C (p.Leu1087Pro)
20g.32436125T>GCA408563011ASXL1c.3413T>G (p.Leu1138Arg)
c.3230T>G (p.Leu1077Arg)
n.5766T>G
c.1869+1544T>G (n.1869+1544T>G)
c.3398T>G (p.Leu1133Arg)
c.3410T>G (p.Leu1137Arg)
c.3383T>G (p.Leu1128Arg)
c.3329T>G (p.Leu1110Arg)
c.2729T>G (p.Leu910Arg)
c.3677T>G (p.Leu1226Arg)
c.3674T>G (p.Leu1225Arg)
c.3593T>G (p.Leu1198Arg)
c.3524T>G (p.Leu1175Arg)
c.3392T>G (p.Leu1131Arg)
c.3260T>G (p.Leu1087Arg)

Number of alleles fetched