Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32435678_32435679delCA16620924ASXL1c.2966_2967del (p.Ser989Ter)
c.2783_2784del (p.Ser928Ter)
n.5319_5320del
c.1869+1097_1869+1098del (n.1869+1097_1869+1098del)
c.2951_2952del (p.Ser984Ter)
c.2963_2964del (p.Ser988Ter)
c.2936_2937del (p.Ser979Ter)
c.2882_2883del (p.Ser961Ter)
c.2282_2283del (p.Ser761Ter)
c.3230_3231del (p.Ser1077Ter)
c.3227_3228del (p.Ser1076Ter)
c.3146_3147del (p.Ser1049Ter)
c.3077_3078del (p.Ser1026Ter)
c.2945_2946del (p.Ser982Ter)
c.2813_2814del (p.Ser938Ter)
 ClinVar dbSNP
20g.32435678C>ACA408561722ASXL1c.2966C>A (p.Ser989Tyr)
c.2783C>A (p.Ser928Tyr)
n.5319C>A
c.1869+1097C>A (n.1869+1097C>A)
c.2951C>A (p.Ser984Tyr)
c.2963C>A (p.Ser988Tyr)
c.2936C>A (p.Ser979Tyr)
c.2882C>A (p.Ser961Tyr)
c.2282C>A (p.Ser761Tyr)
c.3230C>A (p.Ser1077Tyr)
c.3227C>A (p.Ser1076Tyr)
c.3146C>A (p.Ser1049Tyr)
c.3077C>A (p.Ser1026Tyr)
c.2945C>A (p.Ser982Tyr)
c.2813C>A (p.Ser938Tyr)
20g.32435678C=CA2360293364ASXL1c.2966C= (p.Ser989=)
c.2783C= (p.Ser928=)
n.5319C=
c.1869+1097C= (n.1869+1097C=)
c.2951C= (p.Ser984=)
c.2963C= (p.Ser988=)
c.2936C= (p.Ser979=)
c.2882C= (p.Ser961=)
c.2282C= (p.Ser761=)
c.3230C= (p.Ser1077=)
c.3227C= (p.Ser1076=)
c.3146C= (p.Ser1049=)
c.3077C= (p.Ser1026=)
c.2945C= (p.Ser982=)
c.2813C= (p.Ser938=)
20g.32435678C>GCA408561723ASXL1c.2966C>G (p.Ser989Cys)
c.2783C>G (p.Ser928Cys)
n.5319C>G
c.1869+1097C>G (n.1869+1097C>G)
c.2951C>G (p.Ser984Cys)
c.2963C>G (p.Ser988Cys)
c.2936C>G (p.Ser979Cys)
c.2882C>G (p.Ser961Cys)
c.2282C>G (p.Ser761Cys)
c.3230C>G (p.Ser1077Cys)
c.3227C>G (p.Ser1076Cys)
c.3146C>G (p.Ser1049Cys)
c.3077C>G (p.Ser1026Cys)
c.2945C>G (p.Ser982Cys)
c.2813C>G (p.Ser938Cys)
20g.32435678C>TCA408561724ASXL1c.2966C>T (p.Ser989Phe)
c.2783C>T (p.Ser928Phe)
n.5319C>T
c.1869+1097C>T (n.1869+1097C>T)
c.2951C>T (p.Ser984Phe)
c.2963C>T (p.Ser988Phe)
c.2936C>T (p.Ser979Phe)
c.2882C>T (p.Ser961Phe)
c.2282C>T (p.Ser761Phe)
c.3230C>T (p.Ser1077Phe)
c.3227C>T (p.Ser1076Phe)
c.3146C>T (p.Ser1049Phe)
c.3077C>T (p.Ser1026Phe)
c.2945C>T (p.Ser982Phe)
c.2813C>T (p.Ser938Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32435679T>ACA510466851ASXL1c.2967T>A (p.Ser989=)
c.2784T>A (p.Ser928=)
n.5320T>A
c.1869+1098T>A (n.1869+1098T>A)
c.2952T>A (p.Ser984=)
c.2964T>A (p.Ser988=)
c.2937T>A (p.Ser979=)
c.2883T>A (p.Ser961=)
c.2283T>A (p.Ser761=)
c.3231T>A (p.Ser1077=)
c.3228T>A (p.Ser1076=)
c.3147T>A (p.Ser1049=)
c.3078T>A (p.Ser1026=)
c.2946T>A (p.Ser982=)
c.2814T>A (p.Ser938=)
20g.32435679T>CCA510466852ASXL1c.2967T>C (p.Ser989=)
c.2784T>C (p.Ser928=)
n.5320T>C
c.1869+1098T>C (n.1869+1098T>C)
c.2952T>C (p.Ser984=)
c.2964T>C (p.Ser988=)
c.2937T>C (p.Ser979=)
c.2883T>C (p.Ser961=)
c.2283T>C (p.Ser761=)
c.3231T>C (p.Ser1077=)
c.3228T>C (p.Ser1076=)
c.3147T>C (p.Ser1049=)
c.3078T>C (p.Ser1026=)
c.2946T>C (p.Ser982=)
c.2814T>C (p.Ser938=)
 gnomAD v4
20g.32435679T>GCA510466854ASXL1c.2967T>G (p.Ser989=)
c.2784T>G (p.Ser928=)
n.5320T>G
c.1869+1098T>G (n.1869+1098T>G)
c.2952T>G (p.Ser984=)
c.2964T>G (p.Ser988=)
c.2937T>G (p.Ser979=)
c.2883T>G (p.Ser961=)
c.2283T>G (p.Ser761=)
c.3231T>G (p.Ser1077=)
c.3228T>G (p.Ser1076=)
c.3147T>G (p.Ser1049=)
c.3078T>G (p.Ser1026=)
c.2946T>G (p.Ser982=)
c.2814T>G (p.Ser938=)
20g.32435679_32435680delCA2577366236ASXL1c.2967_2968del (p.Glu990SerfsTer7)
c.2784_2785del (p.Glu929SerfsTer7)
n.5320_5321del
c.1869+1098_1869+1099del (n.1869+1098_1869+1099del)
c.2952_2953del (p.Glu985SerfsTer7)
c.2964_2965del (p.Glu989SerfsTer7)
c.2937_2938del (p.Glu980SerfsTer7)
c.2883_2884del (p.Glu962SerfsTer7)
c.2283_2284del (p.Glu762SerfsTer7)
c.3231_3232del (p.Glu1078SerfsTer7)
c.3228_3229del (p.Glu1077SerfsTer7)
c.3147_3148del (p.Glu1050SerfsTer7)
c.3078_3079del (p.Glu1027SerfsTer7)
c.2946_2947del (p.Glu983SerfsTer7)
c.2814_2815del (p.Glu939SerfsTer7)
20g.32435680G>ACA408561725ASXL1c.2968G>A (p.Glu990Lys)
c.2785G>A (p.Glu929Lys)
n.5321G>A
c.1869+1099G>A (n.1869+1099G>A)
c.2953G>A (p.Glu985Lys)
c.2965G>A (p.Glu989Lys)
c.2938G>A (p.Glu980Lys)
c.2884G>A (p.Glu962Lys)
c.2284G>A (p.Glu762Lys)
c.3232G>A (p.Glu1078Lys)
c.3229G>A (p.Glu1077Lys)
c.3148G>A (p.Glu1050Lys)
c.3079G>A (p.Glu1027Lys)
c.2947G>A (p.Glu983Lys)
c.2815G>A (p.Glu939Lys)
 dbSNP
20g.32435680G>CCA408561726ASXL1c.2968G>C (p.Glu990Gln)
c.2785G>C (p.Glu929Gln)
n.5321G>C
c.1869+1099G>C (n.1869+1099G>C)
c.2953G>C (p.Glu985Gln)
c.2965G>C (p.Glu989Gln)
c.2938G>C (p.Glu980Gln)
c.2884G>C (p.Glu962Gln)
c.2284G>C (p.Glu762Gln)
c.3232G>C (p.Glu1078Gln)
c.3229G>C (p.Glu1077Gln)
c.3148G>C (p.Glu1050Gln)
c.3079G>C (p.Glu1027Gln)
c.2947G>C (p.Glu983Gln)
c.2815G>C (p.Glu939Gln)
20g.32435680G>TCA408561727ASXL1c.2968G>T (p.Glu990Ter)
c.2785G>T (p.Glu929Ter)
n.5321G>T
c.1869+1099G>T (n.1869+1099G>T)
c.2953G>T (p.Glu985Ter)
c.2965G>T (p.Glu989Ter)
c.2938G>T (p.Glu980Ter)
c.2884G>T (p.Glu962Ter)
c.2284G>T (p.Glu762Ter)
c.3232G>T (p.Glu1078Ter)
c.3229G>T (p.Glu1077Ter)
c.3148G>T (p.Glu1050Ter)
c.3079G>T (p.Glu1027Ter)
c.2947G>T (p.Glu983Ter)
c.2815G>T (p.Glu939Ter)
20g.32435680_32435684delinsACA2695202310ASXL1c.2968_2972delinsA (p.Glu990AsnfsTer2)
c.2785_2789delinsA (p.Glu929AsnfsTer2)
n.5321_5325delinsA
c.1869+1099_1869+1103delinsA (n.1869+1099_1869+1103delinsA)
c.2953_2957delinsA (p.Glu985AsnfsTer2)
c.2965_2969delinsA (p.Glu989AsnfsTer2)
c.2938_2942delinsA (p.Glu980AsnfsTer2)
c.2884_2888delinsA (p.Glu962AsnfsTer2)
c.2284_2288delinsA (p.Glu762AsnfsTer2)
c.3232_3236delinsA (p.Glu1078AsnfsTer2)
c.3229_3233delinsA (p.Glu1077AsnfsTer2)
c.3148_3152delinsA (p.Glu1050AsnfsTer2)
c.3079_3083delinsA (p.Glu1027AsnfsTer2)
c.2947_2951delinsA (p.Glu983AsnfsTer2)
c.2815_2819delinsA (p.Glu939AsnfsTer2)
20g.32435681A>CCA408561728ASXL1c.2969A>C (p.Glu990Ala)
c.2786A>C (p.Glu929Ala)
n.5322A>C
c.1869+1100A>C (n.1869+1100A>C)
c.2954A>C (p.Glu985Ala)
c.2966A>C (p.Glu989Ala)
c.2939A>C (p.Glu980Ala)
c.2885A>C (p.Glu962Ala)
c.2285A>C (p.Glu762Ala)
c.3233A>C (p.Glu1078Ala)
c.3230A>C (p.Glu1077Ala)
c.3149A>C (p.Glu1050Ala)
c.3080A>C (p.Glu1027Ala)
c.2948A>C (p.Glu983Ala)
c.2816A>C (p.Glu939Ala)
20g.32435681A>GCA408561729ASXL1c.2969A>G (p.Glu990Gly)
c.2786A>G (p.Glu929Gly)
n.5322A>G
c.1869+1100A>G (n.1869+1100A>G)
c.2954A>G (p.Glu985Gly)
c.2966A>G (p.Glu989Gly)
c.2939A>G (p.Glu980Gly)
c.2885A>G (p.Glu962Gly)
c.2285A>G (p.Glu762Gly)
c.3233A>G (p.Glu1078Gly)
c.3230A>G (p.Glu1077Gly)
c.3149A>G (p.Glu1050Gly)
c.3080A>G (p.Glu1027Gly)
c.2948A>G (p.Glu983Gly)
c.2816A>G (p.Glu939Gly)
20g.32435681A>TCA408561730ASXL1c.2969A>T (p.Glu990Val)
c.2786A>T (p.Glu929Val)
n.5322A>T
c.1869+1100A>T (n.1869+1100A>T)
c.2954A>T (p.Glu985Val)
c.2966A>T (p.Glu989Val)
c.2939A>T (p.Glu980Val)
c.2885A>T (p.Glu962Val)
c.2285A>T (p.Glu762Val)
c.3233A>T (p.Glu1078Val)
c.3230A>T (p.Glu1077Val)
c.3149A>T (p.Glu1050Val)
c.3080A>T (p.Glu1027Val)
c.2948A>T (p.Glu983Val)
c.2816A>T (p.Glu939Val)
20g.32435682A=CA2360293365ASXL1c.2970A= (p.Glu990=)
c.2787A= (p.Glu929=)
n.5323A=
c.1869+1101A= (n.1869+1101A=)
c.2955A= (p.Glu985=)
c.2967A= (p.Glu989=)
c.2940A= (p.Glu980=)
c.2886A= (p.Glu962=)
c.2286A= (p.Glu762=)
c.3234A= (p.Glu1078=)
c.3231A= (p.Glu1077=)
c.3150A= (p.Glu1050=)
c.3081A= (p.Glu1027=)
c.2949A= (p.Glu983=)
c.2817A= (p.Glu939=)
20g.32435682A>CCA408561731ASXL1c.2970A>C (p.Glu990Asp)
c.2787A>C (p.Glu929Asp)
n.5323A>C
c.1869+1101A>C (n.1869+1101A>C)
c.2955A>C (p.Glu985Asp)
c.2967A>C (p.Glu989Asp)
c.2940A>C (p.Glu980Asp)
c.2886A>C (p.Glu962Asp)
c.2286A>C (p.Glu762Asp)
c.3234A>C (p.Glu1078Asp)
c.3231A>C (p.Glu1077Asp)
c.3150A>C (p.Glu1050Asp)
c.3081A>C (p.Glu1027Asp)
c.2949A>C (p.Glu983Asp)
c.2817A>C (p.Glu939Asp)
20g.32435682A>GCA313926331ASXL1c.2970A>G (p.Glu990=)
c.2787A>G (p.Glu929=)
n.5323A>G
c.1869+1101A>G (n.1869+1101A>G)
c.2955A>G (p.Glu985=)
c.2967A>G (p.Glu989=)
c.2940A>G (p.Glu980=)
c.2886A>G (p.Glu962=)
c.2286A>G (p.Glu762=)
c.3234A>G (p.Glu1078=)
c.3231A>G (p.Glu1077=)
c.3150A>G (p.Glu1050=)
c.3081A>G (p.Glu1027=)
c.2949A>G (p.Glu983=)
c.2817A>G (p.Glu939=)
 dbSNP gnomAD v3 gnomAD v4
20g.32435682A>TCA408561732ASXL1c.2970A>T (p.Glu990Asp)
c.2787A>T (p.Glu929Asp)
n.5323A>T
c.1869+1101A>T (n.1869+1101A>T)
c.2955A>T (p.Glu985Asp)
c.2967A>T (p.Glu989Asp)
c.2940A>T (p.Glu980Asp)
c.2886A>T (p.Glu962Asp)
c.2286A>T (p.Glu762Asp)
c.3234A>T (p.Glu1078Asp)
c.3231A>T (p.Glu1077Asp)
c.3150A>T (p.Glu1050Asp)
c.3081A>T (p.Glu1027Asp)
c.2949A>T (p.Glu983Asp)
c.2817A>T (p.Glu939Asp)
20g.32435683G>ACA408561734ASXL1c.2971G>A (p.Ala991Thr)
c.2788G>A (p.Ala930Thr)
n.5324G>A
c.1869+1102G>A (n.1869+1102G>A)
c.2956G>A (p.Ala986Thr)
c.2968G>A (p.Ala990Thr)
c.2941G>A (p.Ala981Thr)
c.2887G>A (p.Ala963Thr)
c.2287G>A (p.Ala763Thr)
c.3235G>A (p.Ala1079Thr)
c.3232G>A (p.Ala1078Thr)
c.3151G>A (p.Ala1051Thr)
c.3082G>A (p.Ala1028Thr)
c.2950G>A (p.Ala984Thr)
c.2818G>A (p.Ala940Thr)
 dbSNP gnomAD v4
20g.32435683G>CCA408561735ASXL1c.2971G>C (p.Ala991Pro)
c.2788G>C (p.Ala930Pro)
n.5324G>C
c.1869+1102G>C (n.1869+1102G>C)
c.2956G>C (p.Ala986Pro)
c.2968G>C (p.Ala990Pro)
c.2941G>C (p.Ala981Pro)
c.2887G>C (p.Ala963Pro)
c.2287G>C (p.Ala763Pro)
c.3235G>C (p.Ala1079Pro)
c.3232G>C (p.Ala1078Pro)
c.3151G>C (p.Ala1051Pro)
c.3082G>C (p.Ala1028Pro)
c.2950G>C (p.Ala984Pro)
c.2818G>C (p.Ala940Pro)
20g.32435683G>TCA408561733ASXL1c.2971G>T (p.Ala991Ser)
c.2788G>T (p.Ala930Ser)
n.5324G>T
c.1869+1102G>T (n.1869+1102G>T)
c.2956G>T (p.Ala986Ser)
c.2968G>T (p.Ala990Ser)
c.2941G>T (p.Ala981Ser)
c.2887G>T (p.Ala963Ser)
c.2287G>T (p.Ala763Ser)
c.3235G>T (p.Ala1079Ser)
c.3232G>T (p.Ala1078Ser)
c.3151G>T (p.Ala1051Ser)
c.3082G>T (p.Ala1028Ser)
c.2950G>T (p.Ala984Ser)
c.2818G>T (p.Ala940Ser)
20g.32435683_32435684dupCA635268548ASXL1c.2971_2972dup (p.Leu992HisfsTer2)
c.2788_2789dup (p.Leu931HisfsTer2)
n.5324_5325dup
c.1869+1102_1869+1103dup (n.1869+1102_1869+1103dup)
c.2956_2957dup (p.Leu987HisfsTer2)
c.2968_2969dup (p.Leu991HisfsTer2)
c.2941_2942dup (p.Leu982HisfsTer2)
c.2887_2888dup (p.Leu964HisfsTer2)
c.2287_2288dup (p.Leu764HisfsTer2)
c.3235_3236dup (p.Leu1080HisfsTer2)
c.3232_3233dup (p.Leu1079HisfsTer2)
c.3151_3152dup (p.Leu1052HisfsTer2)
c.3082_3083dup (p.Leu1029HisfsTer2)
c.2950_2951dup (p.Leu985HisfsTer2)
c.2818_2819dup (p.Leu941HisfsTer2)
 dbSNP gnomAD v2
20g.32435684_32435688delCA2577366238ASXL1c.2972_2976del (p.Ala991GlufsTer5)
c.2789_2793del (p.Ala930GlufsTer5)
n.5325_5329del
c.1869+1103_1869+1107del (n.1869+1103_1869+1107del)
c.2957_2961del (p.Ala986GlufsTer5)
c.2969_2973del (p.Ala990GlufsTer5)
c.2942_2946del (p.Ala981GlufsTer5)
c.2888_2892del (p.Ala963GlufsTer5)
c.2288_2292del (p.Ala763GlufsTer5)
c.3236_3240del (p.Ala1079GlufsTer5)
c.3233_3237del (p.Ala1078GlufsTer5)
c.3152_3156del (p.Ala1051GlufsTer5)
c.3083_3087del (p.Ala1028GlufsTer5)
c.2951_2955del (p.Ala984GlufsTer5)
c.2819_2823del (p.Ala940GlufsTer5)
20g.32435684C>ACA408561736ASXL1c.2972C>A (p.Ala991Glu)
c.2789C>A (p.Ala930Glu)
n.5325C>A
c.1869+1103C>A (n.1869+1103C>A)
c.2957C>A (p.Ala986Glu)
c.2969C>A (p.Ala990Glu)
c.2942C>A (p.Ala981Glu)
c.2888C>A (p.Ala963Glu)
c.2288C>A (p.Ala763Glu)
c.3236C>A (p.Ala1079Glu)
c.3233C>A (p.Ala1078Glu)
c.3152C>A (p.Ala1051Glu)
c.3083C>A (p.Ala1028Glu)
c.2951C>A (p.Ala984Glu)
c.2819C>A (p.Ala940Glu)
20g.32435684C=CA2360293366ASXL1c.2972C= (p.Ala991=)
c.2789C= (p.Ala930=)
n.5325C=
c.1869+1103C= (n.1869+1103C=)
c.2957C= (p.Ala986=)
c.2969C= (p.Ala990=)
c.2942C= (p.Ala981=)
c.2888C= (p.Ala963=)
c.2288C= (p.Ala763=)
c.3236C= (p.Ala1079=)
c.3233C= (p.Ala1078=)
c.3152C= (p.Ala1051=)
c.3083C= (p.Ala1028=)
c.2951C= (p.Ala984=)
c.2819C= (p.Ala940=)
20g.32435684C>GCA408561738ASXL1c.2972C>G (p.Ala991Gly)
c.2789C>G (p.Ala930Gly)
n.5325C>G
c.1869+1103C>G (n.1869+1103C>G)
c.2957C>G (p.Ala986Gly)
c.2969C>G (p.Ala990Gly)
c.2942C>G (p.Ala981Gly)
c.2888C>G (p.Ala963Gly)
c.2288C>G (p.Ala763Gly)
c.3236C>G (p.Ala1079Gly)
c.3233C>G (p.Ala1078Gly)
c.3152C>G (p.Ala1051Gly)
c.3083C>G (p.Ala1028Gly)
c.2951C>G (p.Ala984Gly)
c.2819C>G (p.Ala940Gly)
20g.32435684C>TCA408561737ASXL1c.2972C>T (p.Ala991Val)
c.2789C>T (p.Ala930Val)
n.5325C>T
c.1869+1103C>T (n.1869+1103C>T)
c.2957C>T (p.Ala986Val)
c.2969C>T (p.Ala990Val)
c.2942C>T (p.Ala981Val)
c.2888C>T (p.Ala963Val)
c.2288C>T (p.Ala763Val)
c.3236C>T (p.Ala1079Val)
c.3233C>T (p.Ala1078Val)
c.3152C>T (p.Ala1051Val)
c.3083C>T (p.Ala1028Val)
c.2951C>T (p.Ala984Val)
c.2819C>T (p.Ala940Val)
 dbSNP
20g.32435685delCA2652401011ASXL1c.2973del (p.Leu992Ter)
c.2790del (p.Leu931Ter)
n.5326del
c.1869+1104del (n.1869+1104del)
c.2958del (p.Leu987Ter)
c.2970del (p.Leu991Ter)
c.2943del (p.Leu982Ter)
c.2889del (p.Leu964Ter)
c.2289del (p.Leu764Ter)
c.3237del (p.Leu1080Ter)
c.3234del (p.Leu1079Ter)
c.3153del (p.Leu1052Ter)
c.3084del (p.Leu1029Ter)
c.2952del (p.Leu985Ter)
c.2820del (p.Leu941Ter)
 gnomAD v4
20g.32435685A=CA2360293367ASXL1c.2973A= (p.Ala991=)
c.2790A= (p.Ala930=)
n.5326A=
c.1869+1104A= (n.1869+1104A=)
c.2958A= (p.Ala986=)
c.2970A= (p.Ala990=)
c.2943A= (p.Ala981=)
c.2889A= (p.Ala963=)
c.2289A= (p.Ala763=)
c.3237A= (p.Ala1079=)
c.3234A= (p.Ala1078=)
c.3153A= (p.Ala1051=)
c.3084A= (p.Ala1028=)
c.2952A= (p.Ala984=)
c.2820A= (p.Ala940=)
20g.32435685A>CCA510466858ASXL1c.2973A>C (p.Ala991=)
c.2790A>C (p.Ala930=)
n.5326A>C
c.1869+1104A>C (n.1869+1104A>C)
c.2958A>C (p.Ala986=)
c.2970A>C (p.Ala990=)
c.2943A>C (p.Ala981=)
c.2889A>C (p.Ala963=)
c.2289A>C (p.Ala763=)
c.3237A>C (p.Ala1079=)
c.3234A>C (p.Ala1078=)
c.3153A>C (p.Ala1051=)
c.3084A>C (p.Ala1028=)
c.2952A>C (p.Ala984=)
c.2820A>C (p.Ala940=)
20g.32435685A>GCA9808736ASXL1c.2973A>G (p.Ala991=)
c.2790A>G (p.Ala930=)
n.5326A>G
c.1869+1104A>G (n.1869+1104A>G)
c.2958A>G (p.Ala986=)
c.2970A>G (p.Ala990=)
c.2943A>G (p.Ala981=)
c.2889A>G (p.Ala963=)
c.2289A>G (p.Ala763=)
c.3237A>G (p.Ala1079=)
c.3234A>G (p.Ala1078=)
c.3153A>G (p.Ala1051=)
c.3084A>G (p.Ala1028=)
c.2952A>G (p.Ala984=)
c.2820A>G (p.Ala940=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435685A>TCA510466859ASXL1c.2973A>T (p.Ala991=)
c.2790A>T (p.Ala930=)
n.5326A>T
c.1869+1104A>T (n.1869+1104A>T)
c.2958A>T (p.Ala986=)
c.2970A>T (p.Ala990=)
c.2943A>T (p.Ala981=)
c.2889A>T (p.Ala963=)
c.2289A>T (p.Ala763=)
c.3237A>T (p.Ala1079=)
c.3234A>T (p.Ala1078=)
c.3153A>T (p.Ala1051=)
c.3084A>T (p.Ala1028=)
c.2952A>T (p.Ala984=)
c.2820A>T (p.Ala940=)
 dbSNP
20g.32435686C>ACA408561739ASXL1c.2974C>A (p.Leu992Met)
c.2791C>A (p.Leu931Met)
n.5327C>A
c.1869+1105C>A (n.1869+1105C>A)
c.2959C>A (p.Leu987Met)
c.2971C>A (p.Leu991Met)
c.2944C>A (p.Leu982Met)
c.2890C>A (p.Leu964Met)
c.2290C>A (p.Leu764Met)
c.3238C>A (p.Leu1080Met)
c.3235C>A (p.Leu1079Met)
c.3154C>A (p.Leu1052Met)
c.3085C>A (p.Leu1029Met)
c.2953C>A (p.Leu985Met)
c.2821C>A (p.Leu941Met)
20g.32435686C=CA2360293368ASXL1c.2974C= (p.Leu992=)
c.2791C= (p.Leu931=)
n.5327C=
c.1869+1105C= (n.1869+1105C=)
c.2959C= (p.Leu987=)
c.2971C= (p.Leu991=)
c.2944C= (p.Leu982=)
c.2890C= (p.Leu964=)
c.2290C= (p.Leu764=)
c.3238C= (p.Leu1080=)
c.3235C= (p.Leu1079=)
c.3154C= (p.Leu1052=)
c.3085C= (p.Leu1029=)
c.2953C= (p.Leu985=)
c.2821C= (p.Leu941=)
20g.32435686C>GCA408561740ASXL1c.2974C>G (p.Leu992Val)
c.2791C>G (p.Leu931Val)
n.5327C>G
c.1869+1105C>G (n.1869+1105C>G)
c.2959C>G (p.Leu987Val)
c.2971C>G (p.Leu991Val)
c.2944C>G (p.Leu982Val)
c.2890C>G (p.Leu964Val)
c.2290C>G (p.Leu764Val)
c.3238C>G (p.Leu1080Val)
c.3235C>G (p.Leu1079Val)
c.3154C>G (p.Leu1052Val)
c.3085C>G (p.Leu1029Val)
c.2953C>G (p.Leu985Val)
c.2821C>G (p.Leu941Val)
20g.32435686C>TCA510466863ASXL1c.2974C>T (p.Leu992=)
c.2791C>T (p.Leu931=)
n.5327C>T
c.1869+1105C>T (n.1869+1105C>T)
c.2959C>T (p.Leu987=)
c.2971C>T (p.Leu991=)
c.2944C>T (p.Leu982=)
c.2890C>T (p.Leu964=)
c.2290C>T (p.Leu764=)
c.3238C>T (p.Leu1080=)
c.3235C>T (p.Leu1079=)
c.3154C>T (p.Leu1052=)
c.3085C>T (p.Leu1029=)
c.2953C>T (p.Leu985=)
c.2821C>T (p.Leu941=)
 dbSNP gnomAD v2 gnomAD v4
20g.32435687T>ACA408561741ASXL1c.2975T>A (p.Leu992Gln)
c.2792T>A (p.Leu931Gln)
n.5328T>A
c.1869+1106T>A (n.1869+1106T>A)
c.2960T>A (p.Leu987Gln)
c.2972T>A (p.Leu991Gln)
c.2945T>A (p.Leu982Gln)
c.2891T>A (p.Leu964Gln)
c.2291T>A (p.Leu764Gln)
c.3239T>A (p.Leu1080Gln)
c.3236T>A (p.Leu1079Gln)
c.3155T>A (p.Leu1052Gln)
c.3086T>A (p.Leu1029Gln)
c.2954T>A (p.Leu985Gln)
c.2822T>A (p.Leu941Gln)
20g.32435687T>CCA408561742ASXL1c.2975T>C (p.Leu992Pro)
c.2792T>C (p.Leu931Pro)
n.5328T>C
c.1869+1106T>C (n.1869+1106T>C)
c.2960T>C (p.Leu987Pro)
c.2972T>C (p.Leu991Pro)
c.2945T>C (p.Leu982Pro)
c.2891T>C (p.Leu964Pro)
c.2291T>C (p.Leu764Pro)
c.3239T>C (p.Leu1080Pro)
c.3236T>C (p.Leu1079Pro)
c.3155T>C (p.Leu1052Pro)
c.3086T>C (p.Leu1029Pro)
c.2954T>C (p.Leu985Pro)
c.2822T>C (p.Leu941Pro)
20g.32435687T>GCA408561743ASXL1c.2975T>G (p.Leu992Arg)
c.2792T>G (p.Leu931Arg)
n.5328T>G
c.1869+1106T>G (n.1869+1106T>G)
c.2960T>G (p.Leu987Arg)
c.2972T>G (p.Leu991Arg)
c.2945T>G (p.Leu982Arg)
c.2891T>G (p.Leu964Arg)
c.2291T>G (p.Leu764Arg)
c.3239T>G (p.Leu1080Arg)
c.3236T>G (p.Leu1079Arg)
c.3155T>G (p.Leu1052Arg)
c.3086T>G (p.Leu1029Arg)
c.2954T>G (p.Leu985Arg)
c.2822T>G (p.Leu941Arg)
20g.32435687_32435688delinsTGCA2360293369ASXL1c.2975_2976delinsTG (p.Leu992=)
c.2792_2793delinsTG (p.Leu931=)
n.5328_5329delinsTG
c.1869+1106_1869+1107delinsTG (n.1869+1106_1869+1107delinsTG)
c.2960_2961delinsTG (p.Leu987=)
c.2972_2973delinsTG (p.Leu991=)
c.2945_2946delinsTG (p.Leu982=)
c.2891_2892delinsTG (p.Leu964=)
c.2291_2292delinsTG (p.Leu764=)
c.3239_3240delinsTG (p.Leu1080=)
c.3236_3237delinsTG (p.Leu1079=)
c.3155_3156delinsTG (p.Leu1052=)
c.3086_3087delinsTG (p.Leu1029=)
c.2954_2955delinsTG (p.Leu985=)
c.2822_2823delinsTG (p.Leu941=)
20g.32435694_32435706delCA2652401015ASXL1c.2982_2994del (p.His995ArgfsTer25)
c.2799_2811del (p.His934ArgfsTer25)
n.5335_5347del
c.1869+1113_1869+1125del (n.1869+1113_1869+1125del)
c.2967_2979del (p.His990ArgfsTer25)
c.2979_2991del (p.His994ArgfsTer25)
c.2952_2964del (p.His985ArgfsTer25)
c.2898_2910del (p.His967ArgfsTer25)
c.2298_2310del (p.His767ArgfsTer25)
c.3246_3258del (p.His1083ArgfsTer25)
c.3243_3255del (p.His1082ArgfsTer25)
c.3162_3174del (p.His1055ArgfsTer25)
c.3093_3105del (p.His1032ArgfsTer25)
c.2961_2973del (p.His988ArgfsTer25)
c.2829_2841del (p.His944ArgfsTer25)
 gnomAD v4
20g.32435688delCA635268549ASXL1c.2976del (p.Ser993ValfsTer?)
c.2793del (p.Ser932ValfsTer?)
n.5329del
c.1869+1107del (n.1869+1107del)
c.2961del (p.Ser988ValfsTer?)
c.2973del (p.Ser992ValfsTer?)
c.2946del (p.Ser983ValfsTer?)
c.2892del (p.Ser965ValfsTer?)
c.2292del (p.Ser765ValfsTer?)
c.3240del (p.Ser1081ValfsTer?)
c.3237del (p.Ser1080ValfsTer?)
c.3156del (p.Ser1053ValfsTer?)
c.3087del (p.Ser1030ValfsTer?)
c.2955del (p.Ser986ValfsTer?)
c.2823del (p.Ser942ValfsTer?)
 dbSNP gnomAD v2 gnomAD v4
20g.32435688G>ACA510466865ASXL1c.2976G>A (p.Leu992=)
c.2793G>A (p.Leu931=)
n.5329G>A
c.1869+1107G>A (n.1869+1107G>A)
c.2961G>A (p.Leu987=)
c.2973G>A (p.Leu991=)
c.2946G>A (p.Leu982=)
c.2892G>A (p.Leu964=)
c.2292G>A (p.Leu764=)
c.3240G>A (p.Leu1080=)
c.3237G>A (p.Leu1079=)
c.3156G>A (p.Leu1052=)
c.3087G>A (p.Leu1029=)
c.2955G>A (p.Leu985=)
c.2823G>A (p.Leu941=)
20g.32435688G>CCA510466866ASXL1c.2976G>C (p.Leu992=)
c.2793G>C (p.Leu931=)
n.5329G>C
c.1869+1107G>C (n.1869+1107G>C)
c.2961G>C (p.Leu987=)
c.2973G>C (p.Leu991=)
c.2946G>C (p.Leu982=)
c.2892G>C (p.Leu964=)
c.2292G>C (p.Leu764=)
c.3240G>C (p.Leu1080=)
c.3237G>C (p.Leu1079=)
c.3156G>C (p.Leu1052=)
c.3087G>C (p.Leu1029=)
c.2955G>C (p.Leu985=)
c.2823G>C (p.Leu941=)
20g.32435688G>TCA510466867ASXL1c.2976G>T (p.Leu992=)
c.2793G>T (p.Leu931=)
n.5329G>T
c.1869+1107G>T (n.1869+1107G>T)
c.2961G>T (p.Leu987=)
c.2973G>T (p.Leu991=)
c.2946G>T (p.Leu982=)
c.2892G>T (p.Leu964=)
c.2292G>T (p.Leu764=)
c.3240G>T (p.Leu1080=)
c.3237G>T (p.Leu1079=)
c.3156G>T (p.Leu1052=)
c.3087G>T (p.Leu1029=)
c.2955G>T (p.Leu985=)
c.2823G>T (p.Leu941=)
20g.32435689A>CCA408561744ASXL1c.2977A>C (p.Ser993Arg)
c.2794A>C (p.Ser932Arg)
n.5330A>C
c.1869+1108A>C (n.1869+1108A>C)
c.2962A>C (p.Ser988Arg)
c.2974A>C (p.Ser992Arg)
c.2947A>C (p.Ser983Arg)
c.2893A>C (p.Ser965Arg)
c.2293A>C (p.Ser765Arg)
c.3241A>C (p.Ser1081Arg)
c.3238A>C (p.Ser1080Arg)
c.3157A>C (p.Ser1053Arg)
c.3088A>C (p.Ser1030Arg)
c.2956A>C (p.Ser986Arg)
c.2824A>C (p.Ser942Arg)
20g.32435689A>GCA408561745ASXL1c.2977A>G (p.Ser993Gly)
c.2794A>G (p.Ser932Gly)
n.5330A>G
c.1869+1108A>G (n.1869+1108A>G)
c.2962A>G (p.Ser988Gly)
c.2974A>G (p.Ser992Gly)
c.2947A>G (p.Ser983Gly)
c.2893A>G (p.Ser965Gly)
c.2293A>G (p.Ser765Gly)
c.3241A>G (p.Ser1081Gly)
c.3238A>G (p.Ser1080Gly)
c.3157A>G (p.Ser1053Gly)
c.3088A>G (p.Ser1030Gly)
c.2956A>G (p.Ser986Gly)
c.2824A>G (p.Ser942Gly)
20g.32435689A>TCA408561746ASXL1c.2977A>T (p.Ser993Cys)
c.2794A>T (p.Ser932Cys)
n.5330A>T
c.1869+1108A>T (n.1869+1108A>T)
c.2962A>T (p.Ser988Cys)
c.2974A>T (p.Ser992Cys)
c.2947A>T (p.Ser983Cys)
c.2893A>T (p.Ser965Cys)
c.2293A>T (p.Ser765Cys)
c.3241A>T (p.Ser1081Cys)
c.3238A>T (p.Ser1080Cys)
c.3157A>T (p.Ser1053Cys)
c.3088A>T (p.Ser1030Cys)
c.2956A>T (p.Ser986Cys)
c.2824A>T (p.Ser942Cys)
 dbSNP

Number of alleles fetched