Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
20g.32435690G>ACA408561747ASXL1c.2978G>A (p.Ser993Asn)
c.2795G>A (p.Ser932Asn)
n.5331G>A
c.1869+1109G>A (n.1869+1109G>A)
c.2963G>A (p.Ser988Asn)
c.2975G>A (p.Ser992Asn)
c.2948G>A (p.Ser983Asn)
c.2894G>A (p.Ser965Asn)
c.2294G>A (p.Ser765Asn)
c.3242G>A (p.Ser1081Asn)
c.3239G>A (p.Ser1080Asn)
c.3158G>A (p.Ser1053Asn)
c.3089G>A (p.Ser1030Asn)
c.2957G>A (p.Ser986Asn)
c.2825G>A (p.Ser942Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32435690G>CCA408561748ASXL1c.2978G>C (p.Ser993Thr)
c.2795G>C (p.Ser932Thr)
n.5331G>C
c.1869+1109G>C (n.1869+1109G>C)
c.2963G>C (p.Ser988Thr)
c.2975G>C (p.Ser992Thr)
c.2948G>C (p.Ser983Thr)
c.2894G>C (p.Ser965Thr)
c.2294G>C (p.Ser765Thr)
c.3242G>C (p.Ser1081Thr)
c.3239G>C (p.Ser1080Thr)
c.3158G>C (p.Ser1053Thr)
c.3089G>C (p.Ser1030Thr)
c.2957G>C (p.Ser986Thr)
c.2825G>C (p.Ser942Thr)
20g.32435690G=CA2360293370ASXL1c.2978G= (p.Ser993=)
c.2795G= (p.Ser932=)
n.5331G=
c.1869+1109G= (n.1869+1109G=)
c.2963G= (p.Ser988=)
c.2975G= (p.Ser992=)
c.2948G= (p.Ser983=)
c.2894G= (p.Ser965=)
c.2294G= (p.Ser765=)
c.3242G= (p.Ser1081=)
c.3239G= (p.Ser1080=)
c.3158G= (p.Ser1053=)
c.3089G= (p.Ser1030=)
c.2957G= (p.Ser986=)
c.2825G= (p.Ser942=)
20g.32435690G>TCA408561749ASXL1c.2978G>T (p.Ser993Ile)
c.2795G>T (p.Ser932Ile)
n.5331G>T
c.1869+1109G>T (n.1869+1109G>T)
c.2963G>T (p.Ser988Ile)
c.2975G>T (p.Ser992Ile)
c.2948G>T (p.Ser983Ile)
c.2894G>T (p.Ser965Ile)
c.2294G>T (p.Ser765Ile)
c.3242G>T (p.Ser1081Ile)
c.3239G>T (p.Ser1080Ile)
c.3158G>T (p.Ser1053Ile)
c.3089G>T (p.Ser1030Ile)
c.2957G>T (p.Ser986Ile)
c.2825G>T (p.Ser942Ile)
20g.32435691T>ACA408561751ASXL1c.2979T>A (p.Ser993Arg)
c.2796T>A (p.Ser932Arg)
n.5332T>A
c.1869+1110T>A (n.1869+1110T>A)
c.2964T>A (p.Ser988Arg)
c.2976T>A (p.Ser992Arg)
c.2949T>A (p.Ser983Arg)
c.2895T>A (p.Ser965Arg)
c.2295T>A (p.Ser765Arg)
c.3243T>A (p.Ser1081Arg)
c.3240T>A (p.Ser1080Arg)
c.3159T>A (p.Ser1053Arg)
c.3090T>A (p.Ser1030Arg)
c.2958T>A (p.Ser986Arg)
c.2826T>A (p.Ser942Arg)
 dbSNP
20g.32435691T>CCA510466876ASXL1c.2979T>C (p.Ser993=)
c.2796T>C (p.Ser932=)
n.5332T>C
c.1869+1110T>C (n.1869+1110T>C)
c.2964T>C (p.Ser988=)
c.2976T>C (p.Ser992=)
c.2949T>C (p.Ser983=)
c.2895T>C (p.Ser965=)
c.2295T>C (p.Ser765=)
c.3243T>C (p.Ser1081=)
c.3240T>C (p.Ser1080=)
c.3159T>C (p.Ser1053=)
c.3090T>C (p.Ser1030=)
c.2958T>C (p.Ser986=)
c.2826T>C (p.Ser942=)
 ClinVar
20g.32435691T>GCA408561750ASXL1c.2979T>G (p.Ser993Arg)
c.2796T>G (p.Ser932Arg)
n.5332T>G
c.1869+1110T>G (n.1869+1110T>G)
c.2964T>G (p.Ser988Arg)
c.2976T>G (p.Ser992Arg)
c.2949T>G (p.Ser983Arg)
c.2895T>G (p.Ser965Arg)
c.2295T>G (p.Ser765Arg)
c.3243T>G (p.Ser1081Arg)
c.3240T>G (p.Ser1080Arg)
c.3159T>G (p.Ser1053Arg)
c.3090T>G (p.Ser1030Arg)
c.2958T>G (p.Ser986Arg)
c.2826T>G (p.Ser942Arg)
20g.32435692C>ACA408561752ASXL1c.2980C>A (p.Pro994Thr)
c.2797C>A (p.Pro933Thr)
n.5333C>A
c.1869+1111C>A (n.1869+1111C>A)
c.2965C>A (p.Pro989Thr)
c.2977C>A (p.Pro993Thr)
c.2950C>A (p.Pro984Thr)
c.2896C>A (p.Pro966Thr)
c.2296C>A (p.Pro766Thr)
c.3244C>A (p.Pro1082Thr)
c.3241C>A (p.Pro1081Thr)
c.3160C>A (p.Pro1054Thr)
c.3091C>A (p.Pro1031Thr)
c.2959C>A (p.Pro987Thr)
c.2827C>A (p.Pro943Thr)
 dbSNP gnomAD v4
20g.32435692C=CA2360293371ASXL1c.2980C= (p.Pro994=)
c.2797C= (p.Pro933=)
n.5333C=
c.1869+1111C= (n.1869+1111C=)
c.2965C= (p.Pro989=)
c.2977C= (p.Pro993=)
c.2950C= (p.Pro984=)
c.2896C= (p.Pro966=)
c.2296C= (p.Pro766=)
c.3244C= (p.Pro1082=)
c.3241C= (p.Pro1081=)
c.3160C= (p.Pro1054=)
c.3091C= (p.Pro1031=)
c.2959C= (p.Pro987=)
c.2827C= (p.Pro943=)
20g.32435692C>GCA408561753ASXL1c.2980C>G (p.Pro994Ala)
c.2797C>G (p.Pro933Ala)
n.5333C>G
c.1869+1111C>G (n.1869+1111C>G)
c.2965C>G (p.Pro989Ala)
c.2977C>G (p.Pro993Ala)
c.2950C>G (p.Pro984Ala)
c.2896C>G (p.Pro966Ala)
c.2296C>G (p.Pro766Ala)
c.3244C>G (p.Pro1082Ala)
c.3241C>G (p.Pro1081Ala)
c.3160C>G (p.Pro1054Ala)
c.3091C>G (p.Pro1031Ala)
c.2959C>G (p.Pro987Ala)
c.2827C>G (p.Pro943Ala)
 dbSNP
20g.32435692C>TCA408561754ASXL1c.2980C>T (p.Pro994Ser)
c.2797C>T (p.Pro933Ser)
n.5333C>T
c.1869+1111C>T (n.1869+1111C>T)
c.2965C>T (p.Pro989Ser)
c.2977C>T (p.Pro993Ser)
c.2950C>T (p.Pro984Ser)
c.2896C>T (p.Pro966Ser)
c.2296C>T (p.Pro766Ser)
c.3244C>T (p.Pro1082Ser)
c.3241C>T (p.Pro1081Ser)
c.3160C>T (p.Pro1054Ser)
c.3091C>T (p.Pro1031Ser)
c.2959C>T (p.Pro987Ser)
c.2827C>T (p.Pro943Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32435693delCA2695229721ASXL1c.2981del (p.Pro994LeufsTer30)
c.2798del (p.Pro933LeufsTer30)
n.5334del
c.1869+1112del (n.1869+1112del)
c.2966del (p.Pro989LeufsTer30)
c.2978del (p.Pro993LeufsTer30)
c.2951del (p.Pro984LeufsTer30)
c.2897del (p.Pro966LeufsTer30)
c.2297del (p.Pro766LeufsTer30)
c.3245del (p.Pro1082LeufsTer30)
c.3242del (p.Pro1081LeufsTer30)
c.3161del (p.Pro1054LeufsTer30)
c.3092del (p.Pro1031LeufsTer30)
c.2960del (p.Pro987LeufsTer30)
c.2828del (p.Pro943LeufsTer30)
20g.32435693C>ACA408561755ASXL1c.2981C>A (p.Pro994His)
c.2798C>A (p.Pro933His)
n.5334C>A
c.1869+1112C>A (n.1869+1112C>A)
c.2966C>A (p.Pro989His)
c.2978C>A (p.Pro993His)
c.2951C>A (p.Pro984His)
c.2897C>A (p.Pro966His)
c.2297C>A (p.Pro766His)
c.3245C>A (p.Pro1082His)
c.3242C>A (p.Pro1081His)
c.3161C>A (p.Pro1054His)
c.3092C>A (p.Pro1031His)
c.2960C>A (p.Pro987His)
c.2828C>A (p.Pro943His)
20g.32435693C=CA2360293372ASXL1c.2981C= (p.Pro994=)
c.2798C= (p.Pro933=)
n.5334C=
c.1869+1112C= (n.1869+1112C=)
c.2966C= (p.Pro989=)
c.2978C= (p.Pro993=)
c.2951C= (p.Pro984=)
c.2897C= (p.Pro966=)
c.2297C= (p.Pro766=)
c.3245C= (p.Pro1082=)
c.3242C= (p.Pro1081=)
c.3161C= (p.Pro1054=)
c.3092C= (p.Pro1031=)
c.2960C= (p.Pro987=)
c.2828C= (p.Pro943=)
20g.32435693C>GCA408561756ASXL1c.2981C>G (p.Pro994Arg)
c.2798C>G (p.Pro933Arg)
n.5334C>G
c.1869+1112C>G (n.1869+1112C>G)
c.2966C>G (p.Pro989Arg)
c.2978C>G (p.Pro993Arg)
c.2951C>G (p.Pro984Arg)
c.2897C>G (p.Pro966Arg)
c.2297C>G (p.Pro766Arg)
c.3245C>G (p.Pro1082Arg)
c.3242C>G (p.Pro1081Arg)
c.3161C>G (p.Pro1054Arg)
c.3092C>G (p.Pro1031Arg)
c.2960C>G (p.Pro987Arg)
c.2828C>G (p.Pro943Arg)
20g.32435693C>TCA9808737ASXL1c.2981C>T (p.Pro994Leu)
c.2798C>T (p.Pro933Leu)
n.5334C>T
c.1869+1112C>T (n.1869+1112C>T)
c.2966C>T (p.Pro989Leu)
c.2978C>T (p.Pro993Leu)
c.2951C>T (p.Pro984Leu)
c.2897C>T (p.Pro966Leu)
c.2297C>T (p.Pro766Leu)
c.3245C>T (p.Pro1082Leu)
c.3242C>T (p.Pro1081Leu)
c.3161C>T (p.Pro1054Leu)
c.3092C>T (p.Pro1031Leu)
c.2960C>T (p.Pro987Leu)
c.2828C>T (p.Pro943Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435694T>ACA510466887ASXL1c.2982T>A (p.Pro994=)
c.2799T>A (p.Pro933=)
n.5335T>A
c.1869+1113T>A (n.1869+1113T>A)
c.2967T>A (p.Pro989=)
c.2979T>A (p.Pro993=)
c.2952T>A (p.Pro984=)
c.2898T>A (p.Pro966=)
c.2298T>A (p.Pro766=)
c.3246T>A (p.Pro1082=)
c.3243T>A (p.Pro1081=)
c.3162T>A (p.Pro1054=)
c.3093T>A (p.Pro1031=)
c.2961T>A (p.Pro987=)
c.2829T>A (p.Pro943=)
20g.32435694T>CCA510466889ASXL1c.2982T>C (p.Pro994=)
c.2799T>C (p.Pro933=)
n.5335T>C
c.1869+1113T>C (n.1869+1113T>C)
c.2967T>C (p.Pro989=)
c.2979T>C (p.Pro993=)
c.2952T>C (p.Pro984=)
c.2898T>C (p.Pro966=)
c.2298T>C (p.Pro766=)
c.3246T>C (p.Pro1082=)
c.3243T>C (p.Pro1081=)
c.3162T>C (p.Pro1054=)
c.3093T>C (p.Pro1031=)
c.2961T>C (p.Pro987=)
c.2829T>C (p.Pro943=)
20g.32435694T>GCA510466892ASXL1c.2982T>G (p.Pro994=)
c.2799T>G (p.Pro933=)
n.5335T>G
c.1869+1113T>G (n.1869+1113T>G)
c.2967T>G (p.Pro989=)
c.2979T>G (p.Pro993=)
c.2952T>G (p.Pro984=)
c.2898T>G (p.Pro966=)
c.2298T>G (p.Pro766=)
c.3246T>G (p.Pro1082=)
c.3243T>G (p.Pro1081=)
c.3162T>G (p.Pro1054=)
c.3093T>G (p.Pro1031=)
c.2961T>G (p.Pro987=)
c.2829T>G (p.Pro943=)
20g.32435695C>ACA408561757ASXL1c.2983C>A (p.His995Asn)
c.2800C>A (p.His934Asn)
n.5336C>A
c.1869+1114C>A (n.1869+1114C>A)
c.2968C>A (p.His990Asn)
c.2980C>A (p.His994Asn)
c.2953C>A (p.His985Asn)
c.2899C>A (p.His967Asn)
c.2299C>A (p.His767Asn)
c.3247C>A (p.His1083Asn)
c.3244C>A (p.His1082Asn)
c.3163C>A (p.His1055Asn)
c.3094C>A (p.His1032Asn)
c.2962C>A (p.His988Asn)
c.2830C>A (p.His944Asn)
20g.32435695C>GCA408561758ASXL1c.2983C>G (p.His995Asp)
c.2800C>G (p.His934Asp)
n.5336C>G
c.1869+1114C>G (n.1869+1114C>G)
c.2968C>G (p.His990Asp)
c.2980C>G (p.His994Asp)
c.2953C>G (p.His985Asp)
c.2899C>G (p.His967Asp)
c.2299C>G (p.His767Asp)
c.3247C>G (p.His1083Asp)
c.3244C>G (p.His1082Asp)
c.3163C>G (p.His1055Asp)
c.3094C>G (p.His1032Asp)
c.2962C>G (p.His988Asp)
c.2830C>G (p.His944Asp)
20g.32435695C>TCA408561759ASXL1c.2983C>T (p.His995Tyr)
c.2800C>T (p.His934Tyr)
n.5336C>T
c.1869+1114C>T (n.1869+1114C>T)
c.2968C>T (p.His990Tyr)
c.2980C>T (p.His994Tyr)
c.2953C>T (p.His985Tyr)
c.2899C>T (p.His967Tyr)
c.2299C>T (p.His767Tyr)
c.3247C>T (p.His1083Tyr)
c.3244C>T (p.His1082Tyr)
c.3163C>T (p.His1055Tyr)
c.3094C>T (p.His1032Tyr)
c.2962C>T (p.His988Tyr)
c.2830C>T (p.His944Tyr)
20g.32435696A>CCA408561760ASXL1c.2984A>C (p.His995Pro)
c.2801A>C (p.His934Pro)
n.5337A>C
c.1869+1115A>C (n.1869+1115A>C)
c.2969A>C (p.His990Pro)
c.2981A>C (p.His994Pro)
c.2954A>C (p.His985Pro)
c.2900A>C (p.His967Pro)
c.2300A>C (p.His767Pro)
c.3248A>C (p.His1083Pro)
c.3245A>C (p.His1082Pro)
c.3164A>C (p.His1055Pro)
c.3095A>C (p.His1032Pro)
c.2963A>C (p.His988Pro)
c.2831A>C (p.His944Pro)
20g.32435696A>GCA408561761ASXL1c.2984A>G (p.His995Arg)
c.2801A>G (p.His934Arg)
n.5337A>G
c.1869+1115A>G (n.1869+1115A>G)
c.2969A>G (p.His990Arg)
c.2981A>G (p.His994Arg)
c.2954A>G (p.His985Arg)
c.2900A>G (p.His967Arg)
c.2300A>G (p.His767Arg)
c.3248A>G (p.His1083Arg)
c.3245A>G (p.His1082Arg)
c.3164A>G (p.His1055Arg)
c.3095A>G (p.His1032Arg)
c.2963A>G (p.His988Arg)
c.2831A>G (p.His944Arg)
20g.32435696A>TCA408561762ASXL1c.2984A>T (p.His995Leu)
c.2801A>T (p.His934Leu)
n.5337A>T
c.1869+1115A>T (n.1869+1115A>T)
c.2969A>T (p.His990Leu)
c.2981A>T (p.His994Leu)
c.2954A>T (p.His985Leu)
c.2900A>T (p.His967Leu)
c.2300A>T (p.His767Leu)
c.3248A>T (p.His1083Leu)
c.3245A>T (p.His1082Leu)
c.3164A>T (p.His1055Leu)
c.3095A>T (p.His1032Leu)
c.2963A>T (p.His988Leu)
c.2831A>T (p.His944Leu)
 dbSNP
20g.32435696dupCA2577366239ASXL1c.2984dup (p.His995GlnfsTer3)
c.2801dup (p.His934GlnfsTer3)
n.5337dup
c.1869+1115dup (n.1869+1115dup)
c.2969dup (p.His990GlnfsTer3)
c.2981dup (p.His994GlnfsTer3)
c.2954dup (p.His985GlnfsTer3)
c.2900dup (p.His967GlnfsTer3)
c.2300dup (p.His767GlnfsTer3)
c.3248dup (p.His1083GlnfsTer3)
c.3245dup (p.His1082GlnfsTer3)
c.3164dup (p.His1055GlnfsTer3)
c.3095dup (p.His1032GlnfsTer3)
c.2963dup (p.His988GlnfsTer3)
c.2831dup (p.His944GlnfsTer3)
 gnomAD v4
20g.32435697C>ACA408561764ASXL1c.2985C>A (p.His995Gln)
c.2802C>A (p.His934Gln)
n.5338C>A
c.1869+1116C>A (n.1869+1116C>A)
c.2970C>A (p.His990Gln)
c.2982C>A (p.His994Gln)
c.2955C>A (p.His985Gln)
c.2901C>A (p.His967Gln)
c.2301C>A (p.His767Gln)
c.3249C>A (p.His1083Gln)
c.3246C>A (p.His1082Gln)
c.3165C>A (p.His1055Gln)
c.3096C>A (p.His1032Gln)
c.2964C>A (p.His988Gln)
c.2832C>A (p.His944Gln)
20g.32435697C=CA2360293373ASXL1c.2985C= (p.His995=)
c.2802C= (p.His934=)
n.5338C=
c.1869+1116C= (n.1869+1116C=)
c.2970C= (p.His990=)
c.2982C= (p.His994=)
c.2955C= (p.His985=)
c.2901C= (p.His967=)
c.2301C= (p.His767=)
c.3249C= (p.His1083=)
c.3246C= (p.His1082=)
c.3165C= (p.His1055=)
c.3096C= (p.His1032=)
c.2964C= (p.His988=)
c.2832C= (p.His944=)
20g.32435697C>GCA408561763ASXL1c.2985C>G (p.His995Gln)
c.2802C>G (p.His934Gln)
n.5338C>G
c.1869+1116C>G (n.1869+1116C>G)
c.2970C>G (p.His990Gln)
c.2982C>G (p.His994Gln)
c.2955C>G (p.His985Gln)
c.2901C>G (p.His967Gln)
c.2301C>G (p.His767Gln)
c.3249C>G (p.His1083Gln)
c.3246C>G (p.His1082Gln)
c.3165C>G (p.His1055Gln)
c.3096C>G (p.His1032Gln)
c.2964C>G (p.His988Gln)
c.2832C>G (p.His944Gln)
20g.32435697C>TCA9808738ASXL1c.2985C>T (p.His995=)
c.2802C>T (p.His934=)
n.5338C>T
c.1869+1116C>T (n.1869+1116C>T)
c.2970C>T (p.His990=)
c.2982C>T (p.His994=)
c.2955C>T (p.His985=)
c.2901C>T (p.His967=)
c.2301C>T (p.His767=)
c.3249C>T (p.His1083=)
c.3246C>T (p.His1082=)
c.3165C>T (p.His1055=)
c.3096C>T (p.His1032=)
c.2964C>T (p.His988=)
c.2832C>T (p.His944=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435698G>ACA408561765ASXL1c.2986G>A (p.Gly996Ser)
c.2803G>A (p.Gly935Ser)
n.5339G>A
c.1869+1117G>A (n.1869+1117G>A)
c.2971G>A (p.Gly991Ser)
c.2983G>A (p.Gly995Ser)
c.2956G>A (p.Gly986Ser)
c.2902G>A (p.Gly968Ser)
c.2302G>A (p.Gly768Ser)
c.3250G>A (p.Gly1084Ser)
c.3247G>A (p.Gly1083Ser)
c.3166G>A (p.Gly1056Ser)
c.3097G>A (p.Gly1033Ser)
c.2965G>A (p.Gly989Ser)
c.2833G>A (p.Gly945Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32435698G>CCA408561766ASXL1c.2986G>C (p.Gly996Arg)
c.2803G>C (p.Gly935Arg)
n.5339G>C
c.1869+1117G>C (n.1869+1117G>C)
c.2971G>C (p.Gly991Arg)
c.2983G>C (p.Gly995Arg)
c.2956G>C (p.Gly986Arg)
c.2902G>C (p.Gly968Arg)
c.2302G>C (p.Gly768Arg)
c.3250G>C (p.Gly1084Arg)
c.3247G>C (p.Gly1083Arg)
c.3166G>C (p.Gly1056Arg)
c.3097G>C (p.Gly1033Arg)
c.2965G>C (p.Gly989Arg)
c.2833G>C (p.Gly945Arg)
 gnomAD v4
20g.32435698G=CA2360293374ASXL1c.2986G= (p.Gly996=)
c.2803G= (p.Gly935=)
n.5339G=
c.1869+1117G= (n.1869+1117G=)
c.2971G= (p.Gly991=)
c.2983G= (p.Gly995=)
c.2956G= (p.Gly986=)
c.2902G= (p.Gly968=)
c.2302G= (p.Gly768=)
c.3250G= (p.Gly1084=)
c.3247G= (p.Gly1083=)
c.3166G= (p.Gly1056=)
c.3097G= (p.Gly1033=)
c.2965G= (p.Gly989=)
c.2833G= (p.Gly945=)
20g.32435698G>TCA408561767ASXL1c.2986G>T (p.Gly996Cys)
c.2803G>T (p.Gly935Cys)
n.5339G>T
c.1869+1117G>T (n.1869+1117G>T)
c.2971G>T (p.Gly991Cys)
c.2983G>T (p.Gly995Cys)
c.2956G>T (p.Gly986Cys)
c.2902G>T (p.Gly968Cys)
c.2302G>T (p.Gly768Cys)
c.3250G>T (p.Gly1084Cys)
c.3247G>T (p.Gly1083Cys)
c.3166G>T (p.Gly1056Cys)
c.3097G>T (p.Gly1033Cys)
c.2965G>T (p.Gly989Cys)
c.2833G>T (p.Gly945Cys)
20g.32435699delCA2577366241ASXL1c.2987del (p.Gly996ValfsTer28)
c.2804del (p.Gly935ValfsTer28)
n.5340del
c.1869+1118del (n.1869+1118del)
c.2972del (p.Gly991ValfsTer28)
c.2984del (p.Gly995ValfsTer28)
c.2957del (p.Gly986ValfsTer28)
c.2903del (p.Gly968ValfsTer28)
c.2303del (p.Gly768ValfsTer28)
c.3251del (p.Gly1084ValfsTer28)
c.3248del (p.Gly1083ValfsTer28)
c.3167del (p.Gly1056ValfsTer28)
c.3098del (p.Gly1033ValfsTer28)
c.2966del (p.Gly989ValfsTer28)
c.2834del (p.Gly945ValfsTer28)
 ClinVar
20g.32435699G>ACA408561768ASXL1c.2987G>A (p.Gly996Asp)
c.2804G>A (p.Gly935Asp)
n.5340G>A
c.1869+1118G>A (n.1869+1118G>A)
c.2972G>A (p.Gly991Asp)
c.2984G>A (p.Gly995Asp)
c.2957G>A (p.Gly986Asp)
c.2903G>A (p.Gly968Asp)
c.2303G>A (p.Gly768Asp)
c.3251G>A (p.Gly1084Asp)
c.3248G>A (p.Gly1083Asp)
c.3167G>A (p.Gly1056Asp)
c.3098G>A (p.Gly1033Asp)
c.2966G>A (p.Gly989Asp)
c.2834G>A (p.Gly945Asp)
 dbSNP gnomAD v4
20g.32435699G>CCA408561769ASXL1c.2987G>C (p.Gly996Ala)
c.2804G>C (p.Gly935Ala)
n.5340G>C
c.1869+1118G>C (n.1869+1118G>C)
c.2972G>C (p.Gly991Ala)
c.2984G>C (p.Gly995Ala)
c.2957G>C (p.Gly986Ala)
c.2903G>C (p.Gly968Ala)
c.2303G>C (p.Gly768Ala)
c.3251G>C (p.Gly1084Ala)
c.3248G>C (p.Gly1083Ala)
c.3167G>C (p.Gly1056Ala)
c.3098G>C (p.Gly1033Ala)
c.2966G>C (p.Gly989Ala)
c.2834G>C (p.Gly945Ala)
20g.32435699G=CA2360293375ASXL1c.2987G= (p.Gly996=)
c.2804G= (p.Gly935=)
n.5340G=
c.1869+1118G= (n.1869+1118G=)
c.2972G= (p.Gly991=)
c.2984G= (p.Gly995=)
c.2957G= (p.Gly986=)
c.2903G= (p.Gly968=)
c.2303G= (p.Gly768=)
c.3251G= (p.Gly1084=)
c.3248G= (p.Gly1083=)
c.3167G= (p.Gly1056=)
c.3098G= (p.Gly1033=)
c.2966G= (p.Gly989=)
c.2834G= (p.Gly945=)
20g.32435699G>TCA408561770ASXL1c.2987G>T (p.Gly996Val)
c.2804G>T (p.Gly935Val)
n.5340G>T
c.1869+1118G>T (n.1869+1118G>T)
c.2972G>T (p.Gly991Val)
c.2984G>T (p.Gly995Val)
c.2957G>T (p.Gly986Val)
c.2903G>T (p.Gly968Val)
c.2303G>T (p.Gly768Val)
c.3251G>T (p.Gly1084Val)
c.3248G>T (p.Gly1083Val)
c.3167G>T (p.Gly1056Val)
c.3098G>T (p.Gly1033Val)
c.2966G>T (p.Gly989Val)
c.2834G>T (p.Gly945Val)
 ClinVar
20g.32435700T>ACA510466900ASXL1c.2988T>A (p.Gly996=)
c.2805T>A (p.Gly935=)
n.5341T>A
c.1869+1119T>A (n.1869+1119T>A)
c.2973T>A (p.Gly991=)
c.2985T>A (p.Gly995=)
c.2958T>A (p.Gly986=)
c.2904T>A (p.Gly968=)
c.2304T>A (p.Gly768=)
c.3252T>A (p.Gly1084=)
c.3249T>A (p.Gly1083=)
c.3168T>A (p.Gly1056=)
c.3099T>A (p.Gly1033=)
c.2967T>A (p.Gly989=)
c.2835T>A (p.Gly945=)
20g.32435700T>CCA510466901ASXL1c.2988T>C (p.Gly996=)
c.2805T>C (p.Gly935=)
n.5341T>C
c.1869+1119T>C (n.1869+1119T>C)
c.2973T>C (p.Gly991=)
c.2985T>C (p.Gly995=)
c.2958T>C (p.Gly986=)
c.2904T>C (p.Gly968=)
c.2304T>C (p.Gly768=)
c.3252T>C (p.Gly1084=)
c.3249T>C (p.Gly1083=)
c.3168T>C (p.Gly1056=)
c.3099T>C (p.Gly1033=)
c.2967T>C (p.Gly989=)
c.2835T>C (p.Gly945=)
20g.32435700T>GCA510466902ASXL1c.2988T>G (p.Gly996=)
c.2805T>G (p.Gly935=)
n.5341T>G
c.1869+1119T>G (n.1869+1119T>G)
c.2973T>G (p.Gly991=)
c.2985T>G (p.Gly995=)
c.2958T>G (p.Gly986=)
c.2904T>G (p.Gly968=)
c.2304T>G (p.Gly768=)
c.3252T>G (p.Gly1084=)
c.3249T>G (p.Gly1083=)
c.3168T>G (p.Gly1056=)
c.3099T>G (p.Gly1033=)
c.2967T>G (p.Gly989=)
c.2835T>G (p.Gly945=)
20g.32435700dupCA645612954ASXL1c.2988dup (p.Glu997Ter)
c.2805dup (p.Glu936Ter)
n.5341dup
c.1869+1119dup (n.1869+1119dup)
c.2973dup (p.Glu992Ter)
c.2985dup (p.Glu996Ter)
c.2958dup (p.Glu987Ter)
c.2904dup (p.Glu969Ter)
c.2304dup (p.Glu769Ter)
c.3252dup (p.Glu1085Ter)
c.3249dup (p.Glu1084Ter)
c.3168dup (p.Glu1057Ter)
c.3099dup (p.Glu1034Ter)
c.2967dup (p.Glu990Ter)
c.2835dup (p.Glu946Ter)
 gnomAD v4 COSMIC
20g.32435701G>ACA408561772ASXL1c.2989G>A (p.Glu997Lys)
c.2806G>A (p.Glu936Lys)
n.5342G>A
c.1869+1120G>A (n.1869+1120G>A)
c.2974G>A (p.Glu992Lys)
c.2986G>A (p.Glu996Lys)
c.2959G>A (p.Glu987Lys)
c.2905G>A (p.Glu969Lys)
c.2305G>A (p.Glu769Lys)
c.3253G>A (p.Glu1085Lys)
c.3250G>A (p.Glu1084Lys)
c.3169G>A (p.Glu1057Lys)
c.3100G>A (p.Glu1034Lys)
c.2968G>A (p.Glu990Lys)
c.2836G>A (p.Glu946Lys)
 dbSNP gnomAD v3 gnomAD v4
20g.32435701G>CCA236147ASXL1c.2989G>C (p.Glu997Gln)
c.2806G>C (p.Glu936Gln)
n.5342G>C
c.1869+1120G>C (n.1869+1120G>C)
c.2974G>C (p.Glu992Gln)
c.2986G>C (p.Glu996Gln)
c.2959G>C (p.Glu987Gln)
c.2905G>C (p.Glu969Gln)
c.2305G>C (p.Glu769Gln)
c.3253G>C (p.Glu1085Gln)
c.3250G>C (p.Glu1084Gln)
c.3169G>C (p.Glu1057Gln)
c.3100G>C (p.Glu1034Gln)
c.2968G>C (p.Glu990Gln)
c.2836G>C (p.Glu946Gln)
 ClinVar dbSNP
20g.32435701G=CA2360293376ASXL1c.2989G= (p.Glu997=)
c.2806G= (p.Glu936=)
n.5342G=
c.1869+1120G= (n.1869+1120G=)
c.2974G= (p.Glu992=)
c.2986G= (p.Glu996=)
c.2959G= (p.Glu987=)
c.2905G= (p.Glu969=)
c.2305G= (p.Glu769=)
c.3253G= (p.Glu1085=)
c.3250G= (p.Glu1084=)
c.3169G= (p.Glu1057=)
c.3100G= (p.Glu1034=)
c.2968G= (p.Glu990=)
c.2836G= (p.Glu946=)
20g.32435701G>TCA408561771ASXL1c.2989G>T (p.Glu997Ter)
c.2806G>T (p.Glu936Ter)
n.5342G>T
c.1869+1120G>T (n.1869+1120G>T)
c.2974G>T (p.Glu992Ter)
c.2986G>T (p.Glu996Ter)
c.2959G>T (p.Glu987Ter)
c.2905G>T (p.Glu969Ter)
c.2305G>T (p.Glu769Ter)
c.3253G>T (p.Glu1085Ter)
c.3250G>T (p.Glu1084Ter)
c.3169G>T (p.Glu1057Ter)
c.3100G>T (p.Glu1034Ter)
c.2968G>T (p.Glu990Ter)
c.2836G>T (p.Glu946Ter)
 dbSNP gnomAD v4 COSMIC
20g.32435701_32435702insTCA510466904ASXL1c.2989_2990insT (p.Glu997ValfsTer8)
c.2806_2807insT (p.Glu936ValfsTer8)
n.5342_5343insT
c.1869+1120_1869+1121insT (n.1869+1120_1869+1121insT)
c.2974_2975insT (p.Glu992ValfsTer8)
c.2986_2987insT (p.Glu996ValfsTer8)
c.2959_2960insT (p.Glu987ValfsTer8)
c.2905_2906insT (p.Glu969ValfsTer8)
c.2305_2306insT (p.Glu769ValfsTer8)
c.3253_3254insT (p.Glu1085ValfsTer8)
c.3250_3251insT (p.Glu1084ValfsTer8)
c.3169_3170insT (p.Glu1057ValfsTer8)
c.3100_3101insT (p.Glu1034ValfsTer8)
c.2968_2969insT (p.Glu990ValfsTer8)
c.2836_2837insT (p.Glu946ValfsTer8)
20g.32435702A>CCA408561773ASXL1c.2990A>C (p.Glu997Ala)
c.2807A>C (p.Glu936Ala)
n.5343A>C
c.1869+1121A>C (n.1869+1121A>C)
c.2975A>C (p.Glu992Ala)
c.2987A>C (p.Glu996Ala)
c.2960A>C (p.Glu987Ala)
c.2906A>C (p.Glu969Ala)
c.2306A>C (p.Glu769Ala)
c.3254A>C (p.Glu1085Ala)
c.3251A>C (p.Glu1084Ala)
c.3170A>C (p.Glu1057Ala)
c.3101A>C (p.Glu1034Ala)
c.2969A>C (p.Glu990Ala)
c.2837A>C (p.Glu946Ala)
20g.32435702A>GCA408561774ASXL1c.2990A>G (p.Glu997Gly)
c.2807A>G (p.Glu936Gly)
n.5343A>G
c.1869+1121A>G (n.1869+1121A>G)
c.2975A>G (p.Glu992Gly)
c.2987A>G (p.Glu996Gly)
c.2960A>G (p.Glu987Gly)
c.2906A>G (p.Glu969Gly)
c.2306A>G (p.Glu769Gly)
c.3254A>G (p.Glu1085Gly)
c.3251A>G (p.Glu1084Gly)
c.3170A>G (p.Glu1057Gly)
c.3101A>G (p.Glu1034Gly)
c.2969A>G (p.Glu990Gly)
c.2837A>G (p.Glu946Gly)
 dbSNP
20g.32435702A>TCA408561775ASXL1c.2990A>T (p.Glu997Val)
c.2807A>T (p.Glu936Val)
n.5343A>T
c.1869+1121A>T (n.1869+1121A>T)
c.2975A>T (p.Glu992Val)
c.2987A>T (p.Glu996Val)
c.2960A>T (p.Glu987Val)
c.2906A>T (p.Glu969Val)
c.2306A>T (p.Glu769Val)
c.3254A>T (p.Glu1085Val)
c.3251A>T (p.Glu1084Val)
c.3170A>T (p.Glu1057Val)
c.3101A>T (p.Glu1034Val)
c.2969A>T (p.Glu990Val)
c.2837A>T (p.Glu946Val)
20g.32435703G>ACA510466911ASXL1c.2991G>A (p.Glu997=)
c.2808G>A (p.Glu936=)
n.5344G>A
c.1869+1122G>A (n.1869+1122G>A)
c.2976G>A (p.Glu992=)
c.2988G>A (p.Glu996=)
c.2961G>A (p.Glu987=)
c.2907G>A (p.Glu969=)
c.2307G>A (p.Glu769=)
c.3255G>A (p.Glu1085=)
c.3252G>A (p.Glu1084=)
c.3171G>A (p.Glu1057=)
c.3102G>A (p.Glu1034=)
c.2970G>A (p.Glu990=)
c.2838G>A (p.Glu946=)
 dbSNP gnomAD v4
20g.32435703G>CCA408561776ASXL1c.2991G>C (p.Glu997Asp)
c.2808G>C (p.Glu936Asp)
n.5344G>C
c.1869+1122G>C (n.1869+1122G>C)
c.2976G>C (p.Glu992Asp)
c.2988G>C (p.Glu996Asp)
c.2961G>C (p.Glu987Asp)
c.2907G>C (p.Glu969Asp)
c.2307G>C (p.Glu769Asp)
c.3255G>C (p.Glu1085Asp)
c.3252G>C (p.Glu1084Asp)
c.3171G>C (p.Glu1057Asp)
c.3102G>C (p.Glu1034Asp)
c.2970G>C (p.Glu990Asp)
c.2838G>C (p.Glu946Asp)
20g.32435703G>TCA408561777ASXL1c.2991G>T (p.Glu997Asp)
c.2808G>T (p.Glu936Asp)
n.5344G>T
c.1869+1122G>T (n.1869+1122G>T)
c.2976G>T (p.Glu992Asp)
c.2988G>T (p.Glu996Asp)
c.2961G>T (p.Glu987Asp)
c.2907G>T (p.Glu969Asp)
c.2307G>T (p.Glu769Asp)
c.3255G>T (p.Glu1085Asp)
c.3252G>T (p.Glu1084Asp)
c.3171G>T (p.Glu1057Asp)
c.3102G>T (p.Glu1034Asp)
c.2970G>T (p.Glu990Asp)
c.2838G>T (p.Glu946Asp)
20g.32435704T>ACA9808739ASXL1c.2992T>A (p.Ser998Thr)
c.2809T>A (p.Ser937Thr)
n.5345T>A
c.1869+1123T>A (n.1869+1123T>A)
c.2977T>A (p.Ser993Thr)
c.2989T>A (p.Ser997Thr)
c.2962T>A (p.Ser988Thr)
c.2908T>A (p.Ser970Thr)
c.2308T>A (p.Ser770Thr)
c.3256T>A (p.Ser1086Thr)
c.3253T>A (p.Ser1085Thr)
c.3172T>A (p.Ser1058Thr)
c.3103T>A (p.Ser1035Thr)
c.2971T>A (p.Ser991Thr)
c.2839T>A (p.Ser947Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435704T>CCA408561779ASXL1c.2992T>C (p.Ser998Pro)
c.2809T>C (p.Ser937Pro)
n.5345T>C
c.1869+1123T>C (n.1869+1123T>C)
c.2977T>C (p.Ser993Pro)
c.2989T>C (p.Ser997Pro)
c.2962T>C (p.Ser988Pro)
c.2908T>C (p.Ser970Pro)
c.2308T>C (p.Ser770Pro)
c.3256T>C (p.Ser1086Pro)
c.3253T>C (p.Ser1085Pro)
c.3172T>C (p.Ser1058Pro)
c.3103T>C (p.Ser1035Pro)
c.2971T>C (p.Ser991Pro)
c.2839T>C (p.Ser947Pro)
20g.32435704T>GCA408561778ASXL1c.2992T>G (p.Ser998Ala)
c.2809T>G (p.Ser937Ala)
n.5345T>G
c.1869+1123T>G (n.1869+1123T>G)
c.2977T>G (p.Ser993Ala)
c.2989T>G (p.Ser997Ala)
c.2962T>G (p.Ser988Ala)
c.2908T>G (p.Ser970Ala)
c.2308T>G (p.Ser770Ala)
c.3256T>G (p.Ser1086Ala)
c.3253T>G (p.Ser1085Ala)
c.3172T>G (p.Ser1058Ala)
c.3103T>G (p.Ser1035Ala)
c.2971T>G (p.Ser991Ala)
c.2839T>G (p.Ser947Ala)
20g.32435704T=CA2360293377ASXL1c.2992T= (p.Ser998=)
c.2809T= (p.Ser937=)
n.5345T=
c.1869+1123T= (n.1869+1123T=)
c.2977T= (p.Ser993=)
c.2989T= (p.Ser997=)
c.2962T= (p.Ser988=)
c.2908T= (p.Ser970=)
c.2308T= (p.Ser770=)
c.3256T= (p.Ser1086=)
c.3253T= (p.Ser1085=)
c.3172T= (p.Ser1058=)
c.3103T= (p.Ser1035=)
c.2971T= (p.Ser991=)
c.2839T= (p.Ser947=)
20g.32435705C>ACA408561780ASXL1c.2993C>A (p.Ser998Tyr)
c.2810C>A (p.Ser937Tyr)
n.5346C>A
c.1869+1124C>A (n.1869+1124C>A)
c.2978C>A (p.Ser993Tyr)
c.2990C>A (p.Ser997Tyr)
c.2963C>A (p.Ser988Tyr)
c.2909C>A (p.Ser970Tyr)
c.2309C>A (p.Ser770Tyr)
c.3257C>A (p.Ser1086Tyr)
c.3254C>A (p.Ser1085Tyr)
c.3173C>A (p.Ser1058Tyr)
c.3104C>A (p.Ser1035Tyr)
c.2972C>A (p.Ser991Tyr)
c.2840C>A (p.Ser947Tyr)
20g.32435705C>GCA408561781ASXL1c.2993C>G (p.Ser998Cys)
c.2810C>G (p.Ser937Cys)
n.5346C>G
c.1869+1124C>G (n.1869+1124C>G)
c.2978C>G (p.Ser993Cys)
c.2990C>G (p.Ser997Cys)
c.2963C>G (p.Ser988Cys)
c.2909C>G (p.Ser970Cys)
c.2309C>G (p.Ser770Cys)
c.3257C>G (p.Ser1086Cys)
c.3254C>G (p.Ser1085Cys)
c.3173C>G (p.Ser1058Cys)
c.3104C>G (p.Ser1035Cys)
c.2972C>G (p.Ser991Cys)
c.2840C>G (p.Ser947Cys)
20g.32435705C>TCA408561782ASXL1c.2993C>T (p.Ser998Phe)
c.2810C>T (p.Ser937Phe)
n.5346C>T
c.1869+1124C>T (n.1869+1124C>T)
c.2978C>T (p.Ser993Phe)
c.2990C>T (p.Ser997Phe)
c.2963C>T (p.Ser988Phe)
c.2909C>T (p.Ser970Phe)
c.2309C>T (p.Ser770Phe)
c.3257C>T (p.Ser1086Phe)
c.3254C>T (p.Ser1085Phe)
c.3173C>T (p.Ser1058Phe)
c.3104C>T (p.Ser1035Phe)
c.2972C>T (p.Ser991Phe)
c.2840C>T (p.Ser947Phe)
20g.32435706C>ACA510466923ASXL1c.2994C>A (p.Ser998=)
c.2811C>A (p.Ser937=)
n.5347C>A
c.1869+1125C>A (n.1869+1125C>A)
c.2979C>A (p.Ser993=)
c.2991C>A (p.Ser997=)
c.2964C>A (p.Ser988=)
c.2910C>A (p.Ser970=)
c.2310C>A (p.Ser770=)
c.3258C>A (p.Ser1086=)
c.3255C>A (p.Ser1085=)
c.3174C>A (p.Ser1058=)
c.3105C>A (p.Ser1035=)
c.2973C>A (p.Ser991=)
c.2841C>A (p.Ser947=)
20g.32435706C>GCA510466924ASXL1c.2994C>G (p.Ser998=)
c.2811C>G (p.Ser937=)
n.5347C>G
c.1869+1125C>G (n.1869+1125C>G)
c.2979C>G (p.Ser993=)
c.2991C>G (p.Ser997=)
c.2964C>G (p.Ser988=)
c.2910C>G (p.Ser970=)
c.2310C>G (p.Ser770=)
c.3258C>G (p.Ser1086=)
c.3255C>G (p.Ser1085=)
c.3174C>G (p.Ser1058=)
c.3105C>G (p.Ser1035=)
c.2973C>G (p.Ser991=)
c.2841C>G (p.Ser947=)
20g.32435706C>TCA510466925ASXL1c.2994C>T (p.Ser998=)
c.2811C>T (p.Ser937=)
n.5347C>T
c.1869+1125C>T (n.1869+1125C>T)
c.2979C>T (p.Ser993=)
c.2991C>T (p.Ser997=)
c.2964C>T (p.Ser988=)
c.2910C>T (p.Ser970=)
c.2310C>T (p.Ser770=)
c.3258C>T (p.Ser1086=)
c.3255C>T (p.Ser1085=)
c.3174C>T (p.Ser1058=)
c.3105C>T (p.Ser1035=)
c.2973C>T (p.Ser991=)
c.2841C>T (p.Ser947=)
 gnomAD v4
20g.32435707A>CCA408561783ASXL1c.2995A>C (p.Thr999Pro)
c.2812A>C (p.Thr938Pro)
n.5348A>C
c.1869+1126A>C (n.1869+1126A>C)
c.2980A>C (p.Thr994Pro)
c.2992A>C (p.Thr998Pro)
c.2965A>C (p.Thr989Pro)
c.2911A>C (p.Thr971Pro)
c.2311A>C (p.Thr771Pro)
c.3259A>C (p.Thr1087Pro)
c.3256A>C (p.Thr1086Pro)
c.3175A>C (p.Thr1059Pro)
c.3106A>C (p.Thr1036Pro)
c.2974A>C (p.Thr992Pro)
c.2842A>C (p.Thr948Pro)
20g.32435707A>GCA408561784ASXL1c.2995A>G (p.Thr999Ala)
c.2812A>G (p.Thr938Ala)
n.5348A>G
c.1869+1126A>G (n.1869+1126A>G)
c.2980A>G (p.Thr994Ala)
c.2992A>G (p.Thr998Ala)
c.2965A>G (p.Thr989Ala)
c.2911A>G (p.Thr971Ala)
c.2311A>G (p.Thr771Ala)
c.3259A>G (p.Thr1087Ala)
c.3256A>G (p.Thr1086Ala)
c.3175A>G (p.Thr1059Ala)
c.3106A>G (p.Thr1036Ala)
c.2974A>G (p.Thr992Ala)
c.2842A>G (p.Thr948Ala)
20g.32435707A>TCA408561785ASXL1c.2995A>T (p.Thr999Ser)
c.2812A>T (p.Thr938Ser)
n.5348A>T
c.1869+1126A>T (n.1869+1126A>T)
c.2980A>T (p.Thr994Ser)
c.2992A>T (p.Thr998Ser)
c.2965A>T (p.Thr989Ser)
c.2911A>T (p.Thr971Ser)
c.2311A>T (p.Thr771Ser)
c.3259A>T (p.Thr1087Ser)
c.3256A>T (p.Thr1086Ser)
c.3175A>T (p.Thr1059Ser)
c.3106A>T (p.Thr1036Ser)
c.2974A>T (p.Thr992Ser)
c.2842A>T (p.Thr948Ser)
20g.32435708C>ACA408561786ASXL1c.2996C>A (p.Thr999Lys)
c.2813C>A (p.Thr938Lys)
n.5349C>A
c.1869+1127C>A (n.1869+1127C>A)
c.2981C>A (p.Thr994Lys)
c.2993C>A (p.Thr998Lys)
c.2966C>A (p.Thr989Lys)
c.2912C>A (p.Thr971Lys)
c.2312C>A (p.Thr771Lys)
c.3260C>A (p.Thr1087Lys)
c.3257C>A (p.Thr1086Lys)
c.3176C>A (p.Thr1059Lys)
c.3107C>A (p.Thr1036Lys)
c.2975C>A (p.Thr992Lys)
c.2843C>A (p.Thr948Lys)
20g.32435708C=CA2360293378ASXL1c.2996C= (p.Thr999=)
c.2813C= (p.Thr938=)
n.5349C=
c.1869+1127C= (n.1869+1127C=)
c.2981C= (p.Thr994=)
c.2993C= (p.Thr998=)
c.2966C= (p.Thr989=)
c.2912C= (p.Thr971=)
c.2312C= (p.Thr771=)
c.3260C= (p.Thr1087=)
c.3257C= (p.Thr1086=)
c.3176C= (p.Thr1059=)
c.3107C= (p.Thr1036=)
c.2975C= (p.Thr992=)
c.2843C= (p.Thr948=)
20g.32435708C>GCA408561787ASXL1c.2996C>G (p.Thr999Arg)
c.2813C>G (p.Thr938Arg)
n.5349C>G
c.1869+1127C>G (n.1869+1127C>G)
c.2981C>G (p.Thr994Arg)
c.2993C>G (p.Thr998Arg)
c.2966C>G (p.Thr989Arg)
c.2912C>G (p.Thr971Arg)
c.2312C>G (p.Thr771Arg)
c.3260C>G (p.Thr1087Arg)
c.3257C>G (p.Thr1086Arg)
c.3176C>G (p.Thr1059Arg)
c.3107C>G (p.Thr1036Arg)
c.2975C>G (p.Thr992Arg)
c.2843C>G (p.Thr948Arg)
 dbSNP
20g.32435708C>TCA9808740ASXL1c.2996C>T (p.Thr999Met)
c.2813C>T (p.Thr938Met)
n.5349C>T
c.1869+1127C>T (n.1869+1127C>T)
c.2981C>T (p.Thr994Met)
c.2993C>T (p.Thr998Met)
c.2966C>T (p.Thr989Met)
c.2912C>T (p.Thr971Met)
c.2312C>T (p.Thr771Met)
c.3260C>T (p.Thr1087Met)
c.3257C>T (p.Thr1086Met)
c.3176C>T (p.Thr1059Met)
c.3107C>T (p.Thr1036Met)
c.2975C>T (p.Thr992Met)
c.2843C>T (p.Thr948Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435709G>ACA313926332ASXL1c.2997G>A (p.Thr999=)
c.2814G>A (p.Thr938=)
n.5350G>A
c.1869+1128G>A (n.1869+1128G>A)
c.2982G>A (p.Thr994=)
c.2994G>A (p.Thr998=)
c.2967G>A (p.Thr989=)
c.2913G>A (p.Thr971=)
c.2313G>A (p.Thr771=)
c.3261G>A (p.Thr1087=)
c.3258G>A (p.Thr1086=)
c.3177G>A (p.Thr1059=)
c.3108G>A (p.Thr1036=)
c.2976G>A (p.Thr992=)
c.2844G>A (p.Thr948=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32435709G>CCA9808741ASXL1c.2997G>C (p.Thr999=)
c.2814G>C (p.Thr938=)
n.5350G>C
c.1869+1128G>C (n.1869+1128G>C)
c.2982G>C (p.Thr994=)
c.2994G>C (p.Thr998=)
c.2967G>C (p.Thr989=)
c.2913G>C (p.Thr971=)
c.2313G>C (p.Thr771=)
c.3261G>C (p.Thr1087=)
c.3258G>C (p.Thr1086=)
c.3177G>C (p.Thr1059=)
c.3108G>C (p.Thr1036=)
c.2976G>C (p.Thr992=)
c.2844G>C (p.Thr948=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435709G=CA2360293379ASXL1c.2997G= (p.Thr999=)
c.2814G= (p.Thr938=)
n.5350G=
c.1869+1128G= (n.1869+1128G=)
c.2982G= (p.Thr994=)
c.2994G= (p.Thr998=)
c.2967G= (p.Thr989=)
c.2913G= (p.Thr971=)
c.2313G= (p.Thr771=)
c.3261G= (p.Thr1087=)
c.3258G= (p.Thr1086=)
c.3177G= (p.Thr1059=)
c.3108G= (p.Thr1036=)
c.2976G= (p.Thr992=)
c.2844G= (p.Thr948=)
20g.32435709G>TCA510466931ASXL1c.2997G>T (p.Thr999=)
c.2814G>T (p.Thr938=)
n.5350G>T
c.1869+1128G>T (n.1869+1128G>T)
c.2982G>T (p.Thr994=)
c.2994G>T (p.Thr998=)
c.2967G>T (p.Thr989=)
c.2913G>T (p.Thr971=)
c.2313G>T (p.Thr771=)
c.3261G>T (p.Thr1087=)
c.3258G>T (p.Thr1086=)
c.3177G>T (p.Thr1059=)
c.3108G>T (p.Thr1036=)
c.2976G>T (p.Thr992=)
c.2844G>T (p.Thr948=)
20g.32435710delCA2652401046ASXL1c.2998del (p.Asp1000IlefsTer24)
c.2815del (p.Asp939IlefsTer24)
n.5351del
c.1869+1129del (n.1869+1129del)
c.2983del (p.Asp995IlefsTer24)
c.2995del (p.Asp999IlefsTer24)
c.2968del (p.Asp990IlefsTer24)
c.2914del (p.Asp972IlefsTer24)
c.2314del (p.Asp772IlefsTer24)
c.3262del (p.Asp1088IlefsTer24)
c.3259del (p.Asp1087IlefsTer24)
c.3178del (p.Asp1060IlefsTer24)
c.3109del (p.Asp1037IlefsTer24)
c.2977del (p.Asp993IlefsTer24)
c.2845del (p.Asp949IlefsTer24)
 gnomAD v4
20g.32435710G>ACA408561789ASXL1c.2998G>A (p.Asp1000Asn)
c.2815G>A (p.Asp939Asn)
n.5351G>A
c.1869+1129G>A (n.1869+1129G>A)
c.2983G>A (p.Asp995Asn)
c.2995G>A (p.Asp999Asn)
c.2968G>A (p.Asp990Asn)
c.2914G>A (p.Asp972Asn)
c.2314G>A (p.Asp772Asn)
c.3262G>A (p.Asp1088Asn)
c.3259G>A (p.Asp1087Asn)
c.3178G>A (p.Asp1060Asn)
c.3109G>A (p.Asp1037Asn)
c.2977G>A (p.Asp993Asn)
c.2845G>A (p.Asp949Asn)
20g.32435710G>CCA9808742ASXL1c.2998G>C (p.Asp1000His)
c.2815G>C (p.Asp939His)
n.5351G>C
c.1869+1129G>C (n.1869+1129G>C)
c.2983G>C (p.Asp995His)
c.2995G>C (p.Asp999His)
c.2968G>C (p.Asp990His)
c.2914G>C (p.Asp972His)
c.2314G>C (p.Asp772His)
c.3262G>C (p.Asp1088His)
c.3259G>C (p.Asp1087His)
c.3178G>C (p.Asp1060His)
c.3109G>C (p.Asp1037His)
c.2977G>C (p.Asp993His)
c.2845G>C (p.Asp949His)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435710G=CA2360293380ASXL1c.2998G= (p.Asp1000=)
c.2815G= (p.Asp939=)
n.5351G=
c.1869+1129G= (n.1869+1129G=)
c.2983G= (p.Asp995=)
c.2995G= (p.Asp999=)
c.2968G= (p.Asp990=)
c.2914G= (p.Asp972=)
c.2314G= (p.Asp772=)
c.3262G= (p.Asp1088=)
c.3259G= (p.Asp1087=)
c.3178G= (p.Asp1060=)
c.3109G= (p.Asp1037=)
c.2977G= (p.Asp993=)
c.2845G= (p.Asp949=)
20g.32435710G>TCA408561788ASXL1c.2998G>T (p.Asp1000Tyr)
c.2815G>T (p.Asp939Tyr)
n.5351G>T
c.1869+1129G>T (n.1869+1129G>T)
c.2983G>T (p.Asp995Tyr)
c.2995G>T (p.Asp999Tyr)
c.2968G>T (p.Asp990Tyr)
c.2914G>T (p.Asp972Tyr)
c.2314G>T (p.Asp772Tyr)
c.3262G>T (p.Asp1088Tyr)
c.3259G>T (p.Asp1087Tyr)
c.3178G>T (p.Asp1060Tyr)
c.3109G>T (p.Asp1037Tyr)
c.2977G>T (p.Asp993Tyr)
c.2845G>T (p.Asp949Tyr)
20g.32435711A=CA2360293381ASXL1c.2999A= (p.Asp1000=)
c.2816A= (p.Asp939=)
n.5352A=
c.1869+1130A= (n.1869+1130A=)
c.2984A= (p.Asp995=)
c.2996A= (p.Asp999=)
c.2969A= (p.Asp990=)
c.2915A= (p.Asp972=)
c.2315A= (p.Asp772=)
c.3263A= (p.Asp1088=)
c.3260A= (p.Asp1087=)
c.3179A= (p.Asp1060=)
c.3110A= (p.Asp1037=)
c.2978A= (p.Asp993=)
c.2846A= (p.Asp949=)
20g.32435711A>CCA408561790ASXL1c.2999A>C (p.Asp1000Ala)
c.2816A>C (p.Asp939Ala)
n.5352A>C
c.1869+1130A>C (n.1869+1130A>C)
c.2984A>C (p.Asp995Ala)
c.2996A>C (p.Asp999Ala)
c.2969A>C (p.Asp990Ala)
c.2915A>C (p.Asp972Ala)
c.2315A>C (p.Asp772Ala)
c.3263A>C (p.Asp1088Ala)
c.3260A>C (p.Asp1087Ala)
c.3179A>C (p.Asp1060Ala)
c.3110A>C (p.Asp1037Ala)
c.2978A>C (p.Asp993Ala)
c.2846A>C (p.Asp949Ala)
20g.32435711A>GCA9808743ASXL1c.2999A>G (p.Asp1000Gly)
c.2816A>G (p.Asp939Gly)
n.5352A>G
c.1869+1130A>G (n.1869+1130A>G)
c.2984A>G (p.Asp995Gly)
c.2996A>G (p.Asp999Gly)
c.2969A>G (p.Asp990Gly)
c.2915A>G (p.Asp972Gly)
c.2315A>G (p.Asp772Gly)
c.3263A>G (p.Asp1088Gly)
c.3260A>G (p.Asp1087Gly)
c.3179A>G (p.Asp1060Gly)
c.3110A>G (p.Asp1037Gly)
c.2978A>G (p.Asp993Gly)
c.2846A>G (p.Asp949Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.32435711A>TCA408561791ASXL1c.2999A>T (p.Asp1000Val)
c.2816A>T (p.Asp939Val)
n.5352A>T
c.1869+1130A>T (n.1869+1130A>T)
c.2984A>T (p.Asp995Val)
c.2996A>T (p.Asp999Val)
c.2969A>T (p.Asp990Val)
c.2915A>T (p.Asp972Val)
c.2315A>T (p.Asp772Val)
c.3263A>T (p.Asp1088Val)
c.3260A>T (p.Asp1087Val)
c.3179A>T (p.Asp1060Val)
c.3110A>T (p.Asp1037Val)
c.2978A>T (p.Asp993Val)
c.2846A>T (p.Asp949Val)
 dbSNP gnomAD v2 gnomAD v4
20g.32435712T>ACA408561792ASXL1c.3000T>A (p.Asp1000Glu)
c.2817T>A (p.Asp939Glu)
n.5353T>A
c.1869+1131T>A (n.1869+1131T>A)
c.2985T>A (p.Asp995Glu)
c.2997T>A (p.Asp999Glu)
c.2970T>A (p.Asp990Glu)
c.2916T>A (p.Asp972Glu)
c.2316T>A (p.Asp772Glu)
c.3264T>A (p.Asp1088Glu)
c.3261T>A (p.Asp1087Glu)
c.3180T>A (p.Asp1060Glu)
c.3111T>A (p.Asp1037Glu)
c.2979T>A (p.Asp993Glu)
c.2847T>A (p.Asp949Glu)
20g.32435712T>CCA510466936ASXL1c.3000T>C (p.Asp1000=)
c.2817T>C (p.Asp939=)
n.5353T>C
c.1869+1131T>C (n.1869+1131T>C)
c.2985T>C (p.Asp995=)
c.2997T>C (p.Asp999=)
c.2970T>C (p.Asp990=)
c.2916T>C (p.Asp972=)
c.2316T>C (p.Asp772=)
c.3264T>C (p.Asp1088=)
c.3261T>C (p.Asp1087=)
c.3180T>C (p.Asp1060=)
c.3111T>C (p.Asp1037=)
c.2979T>C (p.Asp993=)
c.2847T>C (p.Asp949=)
 dbSNP gnomAD v4
20g.32435712T>GCA408561793ASXL1c.3000T>G (p.Asp1000Glu)
c.2817T>G (p.Asp939Glu)
n.5353T>G
c.1869+1131T>G (n.1869+1131T>G)
c.2985T>G (p.Asp995Glu)
c.2997T>G (p.Asp999Glu)
c.2970T>G (p.Asp990Glu)
c.2916T>G (p.Asp972Glu)
c.2316T>G (p.Asp772Glu)
c.3264T>G (p.Asp1088Glu)
c.3261T>G (p.Asp1087Glu)
c.3180T>G (p.Asp1060Glu)
c.3111T>G (p.Asp1037Glu)
c.2979T>G (p.Asp993Glu)
c.2847T>G (p.Asp949Glu)
 dbSNP
20g.32435713A=CA2360293382ASXL1c.3001A= (p.Thr1001=)
c.2818A= (p.Thr940=)
n.5354A=
c.1869+1132A= (n.1869+1132A=)
c.2986A= (p.Thr996=)
c.2998A= (p.Thr1000=)
c.2971A= (p.Thr991=)
c.2917A= (p.Thr973=)
c.2317A= (p.Thr773=)
c.3265A= (p.Thr1089=)
c.3262A= (p.Thr1088=)
c.3181A= (p.Thr1061=)
c.3112A= (p.Thr1038=)
c.2980A= (p.Thr994=)
c.2848A= (p.Thr950=)
20g.32435713A>CCA408561794ASXL1c.3001A>C (p.Thr1001Pro)
c.2818A>C (p.Thr940Pro)
n.5354A>C
c.1869+1132A>C (n.1869+1132A>C)
c.2986A>C (p.Thr996Pro)
c.2998A>C (p.Thr1000Pro)
c.2971A>C (p.Thr991Pro)
c.2917A>C (p.Thr973Pro)
c.2317A>C (p.Thr773Pro)
c.3265A>C (p.Thr1089Pro)
c.3262A>C (p.Thr1088Pro)
c.3181A>C (p.Thr1061Pro)
c.3112A>C (p.Thr1038Pro)
c.2980A>C (p.Thr994Pro)
c.2848A>C (p.Thr950Pro)
20g.32435713A>GCA408561795ASXL1c.3001A>G (p.Thr1001Ala)
c.2818A>G (p.Thr940Ala)
n.5354A>G
c.1869+1132A>G (n.1869+1132A>G)
c.2986A>G (p.Thr996Ala)
c.2998A>G (p.Thr1000Ala)
c.2971A>G (p.Thr991Ala)
c.2917A>G (p.Thr973Ala)
c.2317A>G (p.Thr773Ala)
c.3265A>G (p.Thr1089Ala)
c.3262A>G (p.Thr1088Ala)
c.3181A>G (p.Thr1061Ala)
c.3112A>G (p.Thr1038Ala)
c.2980A>G (p.Thr994Ala)
c.2848A>G (p.Thr950Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32435713A>TCA408561796ASXL1c.3001A>T (p.Thr1001Ser)
c.2818A>T (p.Thr940Ser)
n.5354A>T
c.1869+1132A>T (n.1869+1132A>T)
c.2986A>T (p.Thr996Ser)
c.2998A>T (p.Thr1000Ser)
c.2971A>T (p.Thr991Ser)
c.2917A>T (p.Thr973Ser)
c.2317A>T (p.Thr773Ser)
c.3265A>T (p.Thr1089Ser)
c.3262A>T (p.Thr1088Ser)
c.3181A>T (p.Thr1061Ser)
c.3112A>T (p.Thr1038Ser)
c.2980A>T (p.Thr994Ser)
c.2848A>T (p.Thr950Ser)
20g.32435713dupCA2577366242ASXL1c.3001dup (p.Thr1001AsnfsTer4)
c.2818dup (p.Thr940AsnfsTer4)
n.5354dup
c.1869+1132dup (n.1869+1132dup)
c.2986dup (p.Thr996AsnfsTer4)
c.2998dup (p.Thr1000AsnfsTer4)
c.2971dup (p.Thr991AsnfsTer4)
c.2917dup (p.Thr973AsnfsTer4)
c.2317dup (p.Thr773AsnfsTer4)
c.3265dup (p.Thr1089AsnfsTer4)
c.3262dup (p.Thr1088AsnfsTer4)
c.3181dup (p.Thr1061AsnfsTer4)
c.3112dup (p.Thr1038AsnfsTer4)
c.2980dup (p.Thr994AsnfsTer4)
c.2848dup (p.Thr950AsnfsTer4)
 gnomAD v4
20g.32435714delCA891842349ASXL1c.3002del (p.Thr1001LysfsTer23)
c.2819del (p.Thr940LysfsTer23)
n.5355del
c.1869+1133del (n.1869+1133del)
c.2987del (p.Thr996LysfsTer23)
c.2999del (p.Thr1000LysfsTer23)
c.2972del (p.Thr991LysfsTer23)
c.2918del (p.Thr973LysfsTer23)
c.2318del (p.Thr773LysfsTer23)
c.3266del (p.Thr1089LysfsTer23)
c.3263del (p.Thr1088LysfsTer23)
c.3182del (p.Thr1061LysfsTer23)
c.3113del (p.Thr1038LysfsTer23)
c.2981del (p.Thr994LysfsTer23)
c.2849del (p.Thr950LysfsTer23)
20g.32435714C>ACA408561799ASXL1c.3002C>A (p.Thr1001Lys)
c.2819C>A (p.Thr940Lys)
n.5355C>A
c.1869+1133C>A (n.1869+1133C>A)
c.2987C>A (p.Thr996Lys)
c.2999C>A (p.Thr1000Lys)
c.2972C>A (p.Thr991Lys)
c.2918C>A (p.Thr973Lys)
c.2318C>A (p.Thr773Lys)
c.3266C>A (p.Thr1089Lys)
c.3263C>A (p.Thr1088Lys)
c.3182C>A (p.Thr1061Lys)
c.3113C>A (p.Thr1038Lys)
c.2981C>A (p.Thr994Lys)
c.2849C>A (p.Thr950Lys)
 dbSNP
20g.32435714C>GCA408561798ASXL1c.3002C>G (p.Thr1001Arg)
c.2819C>G (p.Thr940Arg)
n.5355C>G
c.1869+1133C>G (n.1869+1133C>G)
c.2987C>G (p.Thr996Arg)
c.2999C>G (p.Thr1000Arg)
c.2972C>G (p.Thr991Arg)
c.2918C>G (p.Thr973Arg)
c.2318C>G (p.Thr773Arg)
c.3266C>G (p.Thr1089Arg)
c.3263C>G (p.Thr1088Arg)
c.3182C>G (p.Thr1061Arg)
c.3113C>G (p.Thr1038Arg)
c.2981C>G (p.Thr994Arg)
c.2849C>G (p.Thr950Arg)
 dbSNP
20g.32435714C>TCA408561797ASXL1c.3002C>T (p.Thr1001Ile)
c.2819C>T (p.Thr940Ile)
n.5355C>T
c.1869+1133C>T (n.1869+1133C>T)
c.2987C>T (p.Thr996Ile)
c.2999C>T (p.Thr1000Ile)
c.2972C>T (p.Thr991Ile)
c.2918C>T (p.Thr973Ile)
c.2318C>T (p.Thr773Ile)
c.3266C>T (p.Thr1089Ile)
c.3263C>T (p.Thr1088Ile)
c.3182C>T (p.Thr1061Ile)
c.3113C>T (p.Thr1038Ile)
c.2981C>T (p.Thr994Ile)
c.2849C>T (p.Thr950Ile)
 dbSNP gnomAD v4
20g.32435714_32435723delinsTAGGCCA645612956ASXL1c.3002_3011delinsTAGGC (p.Thr1001IlefsTer4)
c.2819_2828delinsTAGGC (p.Thr940IlefsTer4)
n.5355_5364delinsTAGGC
c.1869+1133_1869+1142delinsTAGGC (n.1869+1133_1869+1142delinsTAGGC)
c.2987_2996delinsTAGGC (p.Thr996IlefsTer4)
c.2999_3008delinsTAGGC (p.Thr1000IlefsTer4)
c.2972_2981delinsTAGGC (p.Thr991IlefsTer4)
c.2918_2927delinsTAGGC (p.Thr973IlefsTer4)
c.2318_2327delinsTAGGC (p.Thr773IlefsTer4)
c.3266_3275delinsTAGGC (p.Thr1089IlefsTer4)
c.3263_3272delinsTAGGC (p.Thr1088IlefsTer4)
c.3182_3191delinsTAGGC (p.Thr1061IlefsTer4)
c.3113_3122delinsTAGGC (p.Thr1038IlefsTer4)
c.2981_2990delinsTAGGC (p.Thr994IlefsTer4)
c.2849_2858delinsTAGGC (p.Thr950IlefsTer4)
 COSMIC
20g.32435715A>CCA510466943ASXL1c.3003A>C (p.Thr1001=)
c.2820A>C (p.Thr940=)
n.5356A>C
c.1869+1134A>C (n.1869+1134A>C)
c.2988A>C (p.Thr996=)
c.3000A>C (p.Thr1000=)
c.2973A>C (p.Thr991=)
c.2919A>C (p.Thr973=)
c.2319A>C (p.Thr773=)
c.3267A>C (p.Thr1089=)
c.3264A>C (p.Thr1088=)
c.3183A>C (p.Thr1061=)
c.3114A>C (p.Thr1038=)
c.2982A>C (p.Thr994=)
c.2850A>C (p.Thr950=)
20g.32435715A>GCA510466944ASXL1c.3003A>G (p.Thr1001=)
c.2820A>G (p.Thr940=)
n.5356A>G
c.1869+1134A>G (n.1869+1134A>G)
c.2988A>G (p.Thr996=)
c.3000A>G (p.Thr1000=)
c.2973A>G (p.Thr991=)
c.2919A>G (p.Thr973=)
c.2319A>G (p.Thr773=)
c.3267A>G (p.Thr1089=)
c.3264A>G (p.Thr1088=)
c.3183A>G (p.Thr1061=)
c.3114A>G (p.Thr1038=)
c.2982A>G (p.Thr994=)
c.2850A>G (p.Thr950=)
20g.32435715A>TCA510466945ASXL1c.3003A>T (p.Thr1001=)
c.2820A>T (p.Thr940=)
n.5356A>T
c.1869+1134A>T (n.1869+1134A>T)
c.2988A>T (p.Thr996=)
c.3000A>T (p.Thr1000=)
c.2973A>T (p.Thr991=)
c.2919A>T (p.Thr973=)
c.2319A>T (p.Thr773=)
c.3267A>T (p.Thr1089=)
c.3264A>T (p.Thr1088=)
c.3183A>T (p.Thr1061=)
c.3114A>T (p.Thr1038=)
c.2982A>T (p.Thr994=)
c.2850A>T (p.Thr950=)
20g.32435715_32435725dupCA2652401052ASXL1c.3003_3013dup (p.Phe1005Ter)
c.2820_2830dup (p.Phe944Ter)
n.5356_5366dup
c.1869+1134_1869+1144dup (n.1869+1134_1869+1144dup)
c.2988_2998dup (p.Phe1000Ter)
c.3000_3010dup (p.Phe1004Ter)
c.2973_2983dup (p.Phe995Ter)
c.2919_2929dup (p.Phe977Ter)
c.2319_2329dup (p.Phe777Ter)
c.3267_3277dup (p.Phe1093Ter)
c.3264_3274dup (p.Phe1092Ter)
c.3183_3193dup (p.Phe1065Ter)
c.3114_3124dup (p.Phe1042Ter)
c.2982_2992dup (p.Phe998Ter)
c.2850_2860dup (p.Phe954Ter)
 gnomAD v4
20g.32435717_32435847dupCA645612957ASXL1c.3005_3135dup (p.Val1046ProfsTer22)
c.2822_2952dup (p.Val985ProfsTer22)
n.5358_5488dup
c.1869+1136_1869+1266dup (n.1869+1136_1869+1266dup)
c.2990_3120dup (p.Val1041ProfsTer22)
c.3002_3132dup (p.Val1045ProfsTer22)
c.2975_3105dup (p.Val1036ProfsTer22)
c.2921_3051dup (p.Val1018ProfsTer22)
c.2321_2451dup (p.Val818ProfsTer22)
c.3269_3399dup (p.Val1134ProfsTer22)
c.3266_3396dup (p.Val1133ProfsTer22)
c.3185_3315dup (p.Val1106ProfsTer22)
c.3116_3246dup (p.Val1083ProfsTer22)
c.2984_3114dup (p.Val1039ProfsTer22)
c.2852_2982dup (p.Val995ProfsTer22)
 COSMIC
20g.32435716G>ACA408561800ASXL1c.3004G>A (p.Ala1002Thr)
c.2821G>A (p.Ala941Thr)
n.5357G>A
c.1869+1135G>A (n.1869+1135G>A)
c.2989G>A (p.Ala997Thr)
c.3001G>A (p.Ala1001Thr)
c.2974G>A (p.Ala992Thr)
c.2920G>A (p.Ala974Thr)
c.2320G>A (p.Ala774Thr)
c.3268G>A (p.Ala1090Thr)
c.3265G>A (p.Ala1089Thr)
c.3184G>A (p.Ala1062Thr)
c.3115G>A (p.Ala1039Thr)
c.2983G>A (p.Ala995Thr)
c.2851G>A (p.Ala951Thr)
20g.32435716G>CCA408561801ASXL1c.3004G>C (p.Ala1002Pro)
c.2821G>C (p.Ala941Pro)
n.5357G>C
c.1869+1135G>C (n.1869+1135G>C)
c.2989G>C (p.Ala997Pro)
c.3001G>C (p.Ala1001Pro)
c.2974G>C (p.Ala992Pro)
c.2920G>C (p.Ala974Pro)
c.2320G>C (p.Ala774Pro)
c.3268G>C (p.Ala1090Pro)
c.3265G>C (p.Ala1089Pro)
c.3184G>C (p.Ala1062Pro)
c.3115G>C (p.Ala1039Pro)
c.2983G>C (p.Ala995Pro)
c.2851G>C (p.Ala951Pro)
 dbSNP
20g.32435716G=CA2360293383ASXL1c.3004G= (p.Ala1002=)
c.2821G= (p.Ala941=)
n.5357G=
c.1869+1135G= (n.1869+1135G=)
c.2989G= (p.Ala997=)
c.3001G= (p.Ala1001=)
c.2974G= (p.Ala992=)
c.2920G= (p.Ala974=)
c.2320G= (p.Ala774=)
c.3268G= (p.Ala1090=)
c.3265G= (p.Ala1089=)
c.3184G= (p.Ala1062=)
c.3115G= (p.Ala1039=)
c.2983G= (p.Ala995=)
c.2851G= (p.Ala951=)
20g.32435716G>TCA408561802ASXL1c.3004G>T (p.Ala1002Ser)
c.2821G>T (p.Ala941Ser)
n.5357G>T
c.1869+1135G>T (n.1869+1135G>T)
c.2989G>T (p.Ala997Ser)
c.3001G>T (p.Ala1001Ser)
c.2974G>T (p.Ala992Ser)
c.2920G>T (p.Ala974Ser)
c.2320G>T (p.Ala774Ser)
c.3268G>T (p.Ala1090Ser)
c.3265G>T (p.Ala1089Ser)
c.3184G>T (p.Ala1062Ser)
c.3115G>T (p.Ala1039Ser)
c.2983G>T (p.Ala995Ser)
c.2851G>T (p.Ala951Ser)
20g.32435717C>ACA408561803ASXL1c.3005C>A (p.Ala1002Asp)
c.2822C>A (p.Ala941Asp)
n.5358C>A
c.1869+1136C>A (n.1869+1136C>A)
c.2990C>A (p.Ala997Asp)
c.3002C>A (p.Ala1001Asp)
c.2975C>A (p.Ala992Asp)
c.2921C>A (p.Ala974Asp)
c.2321C>A (p.Ala774Asp)
c.3269C>A (p.Ala1090Asp)
c.3266C>A (p.Ala1089Asp)
c.3185C>A (p.Ala1062Asp)
c.3116C>A (p.Ala1039Asp)
c.2984C>A (p.Ala995Asp)
c.2852C>A (p.Ala951Asp)
 ClinVar dbSNP gnomAD v4
20g.32435717C=CA2360293384ASXL1c.3005C= (p.Ala1002=)
c.2822C= (p.Ala941=)
n.5358C=
c.1869+1136C= (n.1869+1136C=)
c.2990C= (p.Ala997=)
c.3002C= (p.Ala1001=)
c.2975C= (p.Ala992=)
c.2921C= (p.Ala974=)
c.2321C= (p.Ala774=)
c.3269C= (p.Ala1090=)
c.3266C= (p.Ala1089=)
c.3185C= (p.Ala1062=)
c.3116C= (p.Ala1039=)
c.2984C= (p.Ala995=)
c.2852C= (p.Ala951=)
20g.32435717C>GCA408561804ASXL1c.3005C>G (p.Ala1002Gly)
c.2822C>G (p.Ala941Gly)
n.5358C>G
c.1869+1136C>G (n.1869+1136C>G)
c.2990C>G (p.Ala997Gly)
c.3002C>G (p.Ala1001Gly)
c.2975C>G (p.Ala992Gly)
c.2921C>G (p.Ala974Gly)
c.2321C>G (p.Ala774Gly)
c.3269C>G (p.Ala1090Gly)
c.3266C>G (p.Ala1089Gly)
c.3185C>G (p.Ala1062Gly)
c.3116C>G (p.Ala1039Gly)
c.2984C>G (p.Ala995Gly)
c.2852C>G (p.Ala951Gly)
20g.32435717C>TCA408561805ASXL1c.3005C>T (p.Ala1002Val)
c.2822C>T (p.Ala941Val)
n.5358C>T
c.1869+1136C>T (n.1869+1136C>T)
c.2990C>T (p.Ala997Val)
c.3002C>T (p.Ala1001Val)
c.2975C>T (p.Ala992Val)
c.2921C>T (p.Ala974Val)
c.2321C>T (p.Ala774Val)
c.3269C>T (p.Ala1090Val)
c.3266C>T (p.Ala1089Val)
c.3185C>T (p.Ala1062Val)
c.3116C>T (p.Ala1039Val)
c.2984C>T (p.Ala995Val)
c.2852C>T (p.Ala951Val)
 gnomAD v4
20g.32435718delCA645612958ASXL1c.3006del (p.Ser1003LeufsTer21)
c.2823del (p.Ser942LeufsTer21)
n.5359del
c.1869+1137del (n.1869+1137del)
c.2991del (p.Ser998LeufsTer21)
c.3003del (p.Ser1002LeufsTer21)
c.2976del (p.Ser993LeufsTer21)
c.2922del (p.Ser975LeufsTer21)
c.2322del (p.Ser775LeufsTer21)
c.3270del (p.Ser1091LeufsTer21)
c.3267del (p.Ser1090LeufsTer21)
c.3186del (p.Ser1063LeufsTer21)
c.3117del (p.Ser1040LeufsTer21)
c.2985del (p.Ser996LeufsTer21)
c.2853del (p.Ser952LeufsTer21)
 gnomAD v4 COSMIC COSMIC
20g.32435718C>ACA510466949ASXL1c.3006C>A (p.Ala1002=)
c.2823C>A (p.Ala941=)
n.5359C>A
c.1869+1137C>A (n.1869+1137C>A)
c.2991C>A (p.Ala997=)
c.3003C>A (p.Ala1001=)
c.2976C>A (p.Ala992=)
c.2922C>A (p.Ala974=)
c.2322C>A (p.Ala774=)
c.3270C>A (p.Ala1090=)
c.3267C>A (p.Ala1089=)
c.3186C>A (p.Ala1062=)
c.3117C>A (p.Ala1039=)
c.2985C>A (p.Ala995=)
c.2853C>A (p.Ala951=)
20g.32435718C>GCA510466950ASXL1c.3006C>G (p.Ala1002=)
c.2823C>G (p.Ala941=)
n.5359C>G
c.1869+1137C>G (n.1869+1137C>G)
c.2991C>G (p.Ala997=)
c.3003C>G (p.Ala1001=)
c.2976C>G (p.Ala992=)
c.2922C>G (p.Ala974=)
c.2322C>G (p.Ala774=)
c.3270C>G (p.Ala1090=)
c.3267C>G (p.Ala1089=)
c.3186C>G (p.Ala1062=)
c.3117C>G (p.Ala1039=)
c.2985C>G (p.Ala995=)
c.2853C>G (p.Ala951=)
20g.32435718C>TCA510466948ASXL1c.3006C>T (p.Ala1002=)
c.2823C>T (p.Ala941=)
n.5359C>T
c.1869+1137C>T (n.1869+1137C>T)
c.2991C>T (p.Ala997=)
c.3003C>T (p.Ala1001=)
c.2976C>T (p.Ala992=)
c.2922C>T (p.Ala974=)
c.2322C>T (p.Ala774=)
c.3270C>T (p.Ala1090=)
c.3267C>T (p.Ala1089=)
c.3186C>T (p.Ala1062=)
c.3117C>T (p.Ala1039=)
c.2985C>T (p.Ala995=)
c.2853C>T (p.Ala951=)
20g.32435718_32435719delinsCTCA2360293385ASXL1c.3006_3007delinsCT (p.Ala1002=)
c.2823_2824delinsCT (p.Ala941=)
n.5359_5360delinsCT
c.1869+1137_1869+1138delinsCT (n.1869+1137_1869+1138delinsCT)
c.2991_2992delinsCT (p.Ala997=)
c.3003_3004delinsCT (p.Ala1001=)
c.2976_2977delinsCT (p.Ala992=)
c.2922_2923delinsCT (p.Ala974=)
c.2322_2323delinsCT (p.Ala774=)
c.3270_3271delinsCT (p.Ala1090=)
c.3267_3268delinsCT (p.Ala1089=)
c.3186_3187delinsCT (p.Ala1062=)
c.3117_3118delinsCT (p.Ala1039=)
c.2985_2986delinsCT (p.Ala995=)
c.2853_2854delinsCT (p.Ala951=)
20g.32435720_32435721dupCA2739299260ASXL1c.3008_3009dup (p.Asp1004LeufsTer21)
c.2825_2826dup (p.Asp943LeufsTer21)
n.5361_5362dup
c.1869+1139_1869+1140dup (n.1869+1139_1869+1140dup)
c.2993_2994dup (p.Asp999LeufsTer21)
c.3005_3006dup (p.Asp1003LeufsTer21)
c.2978_2979dup (p.Asp994LeufsTer21)
c.2924_2925dup (p.Asp976LeufsTer21)
c.2324_2325dup (p.Asp776LeufsTer21)
c.3272_3273dup (p.Asp1092LeufsTer21)
c.3269_3270dup (p.Asp1091LeufsTer21)
c.3188_3189dup (p.Asp1064LeufsTer21)
c.3119_3120dup (p.Asp1041LeufsTer21)
c.2987_2988dup (p.Asp997LeufsTer21)
c.2855_2856dup (p.Asp953LeufsTer21)
20g.32435719delCA635268550ASXL1c.3007del (p.Ser1003LeufsTer21)
c.2824del (p.Ser942LeufsTer21)
n.5360del
c.1869+1138del (n.1869+1138del)
c.2992del (p.Ser998LeufsTer21)
c.3004del (p.Ser1002LeufsTer21)
c.2977del (p.Ser993LeufsTer21)
c.2923del (p.Ser975LeufsTer21)
c.2323del (p.Ser775LeufsTer21)
c.3271del (p.Ser1091LeufsTer21)
c.3268del (p.Ser1090LeufsTer21)
c.3187del (p.Ser1063LeufsTer21)
c.3118del (p.Ser1040LeufsTer21)
c.2986del (p.Ser996LeufsTer21)
c.2854del (p.Ser952LeufsTer21)
 dbSNP gnomAD v2 gnomAD v4
20g.32435719T>ACA408561806ASXL1c.3007T>A (p.Ser1003Thr)
c.2824T>A (p.Ser942Thr)
n.5360T>A
c.1869+1138T>A (n.1869+1138T>A)
c.2992T>A (p.Ser998Thr)
c.3004T>A (p.Ser1002Thr)
c.2977T>A (p.Ser993Thr)
c.2923T>A (p.Ser975Thr)
c.2323T>A (p.Ser775Thr)
c.3271T>A (p.Ser1091Thr)
c.3268T>A (p.Ser1090Thr)
c.3187T>A (p.Ser1063Thr)
c.3118T>A (p.Ser1040Thr)
c.2986T>A (p.Ser996Thr)
c.2854T>A (p.Ser952Thr)
20g.32435719T>CCA408561808ASXL1c.3007T>C (p.Ser1003Pro)
c.2824T>C (p.Ser942Pro)
n.5360T>C
c.1869+1138T>C (n.1869+1138T>C)
c.2992T>C (p.Ser998Pro)
c.3004T>C (p.Ser1002Pro)
c.2977T>C (p.Ser993Pro)
c.2923T>C (p.Ser975Pro)
c.2323T>C (p.Ser775Pro)
c.3271T>C (p.Ser1091Pro)
c.3268T>C (p.Ser1090Pro)
c.3187T>C (p.Ser1063Pro)
c.3118T>C (p.Ser1040Pro)
c.2986T>C (p.Ser996Pro)
c.2854T>C (p.Ser952Pro)
20g.32435719T>GCA408561807ASXL1c.3007T>G (p.Ser1003Ala)
c.2824T>G (p.Ser942Ala)
n.5360T>G
c.1869+1138T>G (n.1869+1138T>G)
c.2992T>G (p.Ser998Ala)
c.3004T>G (p.Ser1002Ala)
c.2977T>G (p.Ser993Ala)
c.2923T>G (p.Ser975Ala)
c.2323T>G (p.Ser775Ala)
c.3271T>G (p.Ser1091Ala)
c.3268T>G (p.Ser1090Ala)
c.3187T>G (p.Ser1063Ala)
c.3118T>G (p.Ser1040Ala)
c.2986T>G (p.Ser996Ala)
c.2854T>G (p.Ser952Ala)
 dbSNP
20g.32435719T=CA2360293386ASXL1c.3007T= (p.Ser1003=)
c.2824T= (p.Ser942=)
n.5360T=
c.1869+1138T= (n.1869+1138T=)
c.2992T= (p.Ser998=)
c.3004T= (p.Ser1002=)
c.2977T= (p.Ser993=)
c.2923T= (p.Ser975=)
c.2323T= (p.Ser775=)
c.3271T= (p.Ser1091=)
c.3268T= (p.Ser1090=)
c.3187T= (p.Ser1063=)
c.3118T= (p.Ser1040=)
c.2986T= (p.Ser996=)
c.2854T= (p.Ser952=)
20g.32435720C>ACA408561809ASXL1c.3008C>A (p.Ser1003Tyr)
c.2825C>A (p.Ser942Tyr)
n.5361C>A
c.1869+1139C>A (n.1869+1139C>A)
c.2993C>A (p.Ser998Tyr)
c.3005C>A (p.Ser1002Tyr)
c.2978C>A (p.Ser993Tyr)
c.2924C>A (p.Ser975Tyr)
c.2324C>A (p.Ser775Tyr)
c.3272C>A (p.Ser1091Tyr)
c.3269C>A (p.Ser1090Tyr)
c.3188C>A (p.Ser1063Tyr)
c.3119C>A (p.Ser1040Tyr)
c.2987C>A (p.Ser996Tyr)
c.2855C>A (p.Ser952Tyr)
20g.32435720C>GCA408561810ASXL1c.3008C>G (p.Ser1003Cys)
c.2825C>G (p.Ser942Cys)
n.5361C>G
c.1869+1139C>G (n.1869+1139C>G)
c.2993C>G (p.Ser998Cys)
c.3005C>G (p.Ser1002Cys)
c.2978C>G (p.Ser993Cys)
c.2924C>G (p.Ser975Cys)
c.2324C>G (p.Ser775Cys)
c.3272C>G (p.Ser1091Cys)
c.3269C>G (p.Ser1090Cys)
c.3188C>G (p.Ser1063Cys)
c.3119C>G (p.Ser1040Cys)
c.2987C>G (p.Ser996Cys)
c.2855C>G (p.Ser952Cys)
20g.32435720C>TCA408561811ASXL1c.3008C>T (p.Ser1003Phe)
c.2825C>T (p.Ser942Phe)
n.5361C>T
c.1869+1139C>T (n.1869+1139C>T)
c.2993C>T (p.Ser998Phe)
c.3005C>T (p.Ser1002Phe)
c.2978C>T (p.Ser993Phe)
c.2924C>T (p.Ser975Phe)
c.2324C>T (p.Ser775Phe)
c.3272C>T (p.Ser1091Phe)
c.3269C>T (p.Ser1090Phe)
c.3188C>T (p.Ser1063Phe)
c.3119C>T (p.Ser1040Phe)
c.2987C>T (p.Ser996Phe)
c.2855C>T (p.Ser952Phe)
20g.32435721T>ACA510466951ASXL1c.3009T>A (p.Ser1003=)
c.2826T>A (p.Ser942=)
n.5362T>A
c.1869+1140T>A (n.1869+1140T>A)
c.2994T>A (p.Ser998=)
c.3006T>A (p.Ser1002=)
c.2979T>A (p.Ser993=)
c.2925T>A (p.Ser975=)
c.2325T>A (p.Ser775=)
c.3273T>A (p.Ser1091=)
c.3270T>A (p.Ser1090=)
c.3189T>A (p.Ser1063=)
c.3120T>A (p.Ser1040=)
c.2988T>A (p.Ser996=)
c.2856T>A (p.Ser952=)
20g.32435721T>CCA510466952ASXL1c.3009T>C (p.Ser1003=)
c.2826T>C (p.Ser942=)
n.5362T>C
c.1869+1140T>C (n.1869+1140T>C)
c.2994T>C (p.Ser998=)
c.3006T>C (p.Ser1002=)
c.2979T>C (p.Ser993=)
c.2925T>C (p.Ser975=)
c.2325T>C (p.Ser775=)
c.3273T>C (p.Ser1091=)
c.3270T>C (p.Ser1090=)
c.3189T>C (p.Ser1063=)
c.3120T>C (p.Ser1040=)
c.2988T>C (p.Ser996=)
c.2856T>C (p.Ser952=)
20g.32435721T>GCA510466953ASXL1c.3009T>G (p.Ser1003=)
c.2826T>G (p.Ser942=)
n.5362T>G
c.1869+1140T>G (n.1869+1140T>G)
c.2994T>G (p.Ser998=)
c.3006T>G (p.Ser1002=)
c.2979T>G (p.Ser993=)
c.2925T>G (p.Ser975=)
c.2325T>G (p.Ser775=)
c.3273T>G (p.Ser1091=)
c.3270T>G (p.Ser1090=)
c.3189T>G (p.Ser1063=)
c.3120T>G (p.Ser1040=)
c.2988T>G (p.Ser996=)
c.2856T>G (p.Ser952=)
20g.32435724_32435729delCA2577366243ASXL1c.3012_3017del (p.Asp1004_Phe1005del)
c.2829_2834del (p.Asp943_Phe944del)
n.5365_5370del
c.1869+1143_1869+1148del (n.1869+1143_1869+1148del)
c.2997_3002del (p.Asp999_Phe1000del)
c.3009_3014del (p.Asp1003_Phe1004del)
c.2982_2987del (p.Asp994_Phe995del)
c.2928_2933del (p.Asp976_Phe977del)
c.2328_2333del (p.Asp776_Phe777del)
c.3276_3281del (p.Asp1092_Phe1093del)
c.3273_3278del (p.Asp1091_Phe1092del)
c.3192_3197del (p.Asp1064_Phe1065del)
c.3123_3128del (p.Asp1041_Phe1042del)
c.2991_2996del (p.Asp997_Phe998del)
c.2859_2864del (p.Asp953_Phe954del)
20g.32435722G>ACA408561812ASXL1c.3010G>A (p.Asp1004Asn)
c.2827G>A (p.Asp943Asn)
n.5363G>A
c.1869+1141G>A (n.1869+1141G>A)
c.2995G>A (p.Asp999Asn)
c.3007G>A (p.Asp1003Asn)
c.2980G>A (p.Asp994Asn)
c.2926G>A (p.Asp976Asn)
c.2326G>A (p.Asp776Asn)
c.3274G>A (p.Asp1092Asn)
c.3271G>A (p.Asp1091Asn)
c.3190G>A (p.Asp1064Asn)
c.3121G>A (p.Asp1041Asn)
c.2989G>A (p.Asp997Asn)
c.2857G>A (p.Asp953Asn)
 COSMIC COSMIC
20g.32435722G>CCA408561813ASXL1c.3010G>C (p.Asp1004His)
c.2827G>C (p.Asp943His)
n.5363G>C
c.1869+1141G>C (n.1869+1141G>C)
c.2995G>C (p.Asp999His)
c.3007G>C (p.Asp1003His)
c.2980G>C (p.Asp994His)
c.2926G>C (p.Asp976His)
c.2326G>C (p.Asp776His)
c.3274G>C (p.Asp1092His)
c.3271G>C (p.Asp1091His)
c.3190G>C (p.Asp1064His)
c.3121G>C (p.Asp1041His)
c.2989G>C (p.Asp997His)
c.2857G>C (p.Asp953His)
20g.32435722G>TCA408561814ASXL1c.3010G>T (p.Asp1004Tyr)
c.2827G>T (p.Asp943Tyr)
n.5363G>T
c.1869+1141G>T (n.1869+1141G>T)
c.2995G>T (p.Asp999Tyr)
c.3007G>T (p.Asp1003Tyr)
c.2980G>T (p.Asp994Tyr)
c.2926G>T (p.Asp976Tyr)
c.2326G>T (p.Asp776Tyr)
c.3274G>T (p.Asp1092Tyr)
c.3271G>T (p.Asp1091Tyr)
c.3190G>T (p.Asp1064Tyr)
c.3121G>T (p.Asp1041Tyr)
c.2989G>T (p.Asp997Tyr)
c.2857G>T (p.Asp953Tyr)
20g.32435723A>CCA408561815ASXL1c.3011A>C (p.Asp1004Ala)
c.2828A>C (p.Asp943Ala)
n.5364A>C
c.1869+1142A>C (n.1869+1142A>C)
c.2996A>C (p.Asp999Ala)
c.3008A>C (p.Asp1003Ala)
c.2981A>C (p.Asp994Ala)
c.2927A>C (p.Asp976Ala)
c.2327A>C (p.Asp776Ala)
c.3275A>C (p.Asp1092Ala)
c.3272A>C (p.Asp1091Ala)
c.3191A>C (p.Asp1064Ala)
c.3122A>C (p.Asp1041Ala)
c.2990A>C (p.Asp997Ala)
c.2858A>C (p.Asp953Ala)
20g.32435723A>GCA408561816ASXL1c.3011A>G (p.Asp1004Gly)
c.2828A>G (p.Asp943Gly)
n.5364A>G
c.1869+1142A>G (n.1869+1142A>G)
c.2996A>G (p.Asp999Gly)
c.3008A>G (p.Asp1003Gly)
c.2981A>G (p.Asp994Gly)
c.2927A>G (p.Asp976Gly)
c.2327A>G (p.Asp776Gly)
c.3275A>G (p.Asp1092Gly)
c.3272A>G (p.Asp1091Gly)
c.3191A>G (p.Asp1064Gly)
c.3122A>G (p.Asp1041Gly)
c.2990A>G (p.Asp997Gly)
c.2858A>G (p.Asp953Gly)
20g.32435723A>TCA408561817ASXL1c.3011A>T (p.Asp1004Val)
c.2828A>T (p.Asp943Val)
n.5364A>T
c.1869+1142A>T (n.1869+1142A>T)
c.2996A>T (p.Asp999Val)
c.3008A>T (p.Asp1003Val)
c.2981A>T (p.Asp994Val)
c.2927A>T (p.Asp976Val)
c.2327A>T (p.Asp776Val)
c.3275A>T (p.Asp1092Val)
c.3272A>T (p.Asp1091Val)
c.3191A>T (p.Asp1064Val)
c.3122A>T (p.Asp1041Val)
c.2990A>T (p.Asp997Val)
c.2858A>T (p.Asp953Val)
20g.32435724C>ACA408561818ASXL1c.3012C>A (p.Asp1004Glu)
c.2829C>A (p.Asp943Glu)
n.5365C>A
c.1869+1143C>A (n.1869+1143C>A)
c.2997C>A (p.Asp999Glu)
c.3009C>A (p.Asp1003Glu)
c.2982C>A (p.Asp994Glu)
c.2928C>A (p.Asp976Glu)
c.2328C>A (p.Asp776Glu)
c.3276C>A (p.Asp1092Glu)
c.3273C>A (p.Asp1091Glu)
c.3192C>A (p.Asp1064Glu)
c.3123C>A (p.Asp1041Glu)
c.2991C>A (p.Asp997Glu)
c.2859C>A (p.Asp953Glu)
 COSMIC COSMIC
20g.32435724C>GCA408561819ASXL1c.3012C>G (p.Asp1004Glu)
c.2829C>G (p.Asp943Glu)
n.5365C>G
c.1869+1143C>G (n.1869+1143C>G)
c.2997C>G (p.Asp999Glu)
c.3009C>G (p.Asp1003Glu)
c.2982C>G (p.Asp994Glu)
c.2928C>G (p.Asp976Glu)
c.2328C>G (p.Asp776Glu)
c.3276C>G (p.Asp1092Glu)
c.3273C>G (p.Asp1091Glu)
c.3192C>G (p.Asp1064Glu)
c.3123C>G (p.Asp1041Glu)
c.2991C>G (p.Asp997Glu)
c.2859C>G (p.Asp953Glu)
20g.32435724C>TCA510466962ASXL1c.3012C>T (p.Asp1004=)
c.2829C>T (p.Asp943=)
n.5365C>T
c.1869+1143C>T (n.1869+1143C>T)
c.2997C>T (p.Asp999=)
c.3009C>T (p.Asp1003=)
c.2982C>T (p.Asp994=)
c.2928C>T (p.Asp976=)
c.2328C>T (p.Asp776=)
c.3276C>T (p.Asp1092=)
c.3273C>T (p.Asp1091=)
c.3192C>T (p.Asp1064=)
c.3123C>T (p.Asp1041=)
c.2991C>T (p.Asp997=)
c.2859C>T (p.Asp953=)
 dbSNP
20g.32435724_32435725delinsCTCA2360293387ASXL1c.3012_3013delinsCT (p.Asp1004=)
c.2829_2830delinsCT (p.Asp943=)
n.5365_5366delinsCT
c.1869+1143_1869+1144delinsCT (n.1869+1143_1869+1144delinsCT)
c.2997_2998delinsCT (p.Asp999=)
c.3009_3010delinsCT (p.Asp1003=)
c.2982_2983delinsCT (p.Asp994=)
c.2928_2929delinsCT (p.Asp976=)
c.2328_2329delinsCT (p.Asp776=)
c.3276_3277delinsCT (p.Asp1092=)
c.3273_3274delinsCT (p.Asp1091=)
c.3192_3193delinsCT (p.Asp1064=)
c.3123_3124delinsCT (p.Asp1041=)
c.2991_2992delinsCT (p.Asp997=)
c.2859_2860delinsCT (p.Asp953=)
20g.32435725T>ACA408561822ASXL1c.3013T>A (p.Phe1005Ile)
c.2830T>A (p.Phe944Ile)
n.5366T>A
c.1869+1144T>A (n.1869+1144T>A)
c.2998T>A (p.Phe1000Ile)
c.3010T>A (p.Phe1004Ile)
c.2983T>A (p.Phe995Ile)
c.2929T>A (p.Phe977Ile)
c.2329T>A (p.Phe777Ile)
c.3277T>A (p.Phe1093Ile)
c.3274T>A (p.Phe1092Ile)
c.3193T>A (p.Phe1065Ile)
c.3124T>A (p.Phe1042Ile)
c.2992T>A (p.Phe998Ile)
c.2860T>A (p.Phe954Ile)
20g.32435725T>CCA408561821ASXL1c.3013T>C (p.Phe1005Leu)
c.2830T>C (p.Phe944Leu)
n.5366T>C
c.1869+1144T>C (n.1869+1144T>C)
c.2998T>C (p.Phe1000Leu)
c.3010T>C (p.Phe1004Leu)
c.2983T>C (p.Phe995Leu)
c.2929T>C (p.Phe977Leu)
c.2329T>C (p.Phe777Leu)
c.3277T>C (p.Phe1093Leu)
c.3274T>C (p.Phe1092Leu)
c.3193T>C (p.Phe1065Leu)
c.3124T>C (p.Phe1042Leu)
c.2992T>C (p.Phe998Leu)
c.2860T>C (p.Phe954Leu)
20g.32435725T>GCA408561820ASXL1c.3013T>G (p.Phe1005Val)
c.2830T>G (p.Phe944Val)
n.5366T>G
c.1869+1144T>G (n.1869+1144T>G)
c.2998T>G (p.Phe1000Val)
c.3010T>G (p.Phe1004Val)
c.2983T>G (p.Phe995Val)
c.2929T>G (p.Phe977Val)
c.2329T>G (p.Phe777Val)
c.3277T>G (p.Phe1093Val)
c.3274T>G (p.Phe1092Val)
c.3193T>G (p.Phe1065Val)
c.3124T>G (p.Phe1042Val)
c.2992T>G (p.Phe998Val)
c.2860T>G (p.Phe954Val)
 dbSNP
20g.32435725T=CA2360293388ASXL1c.3013T= (p.Phe1005=)
c.2830T= (p.Phe944=)
n.5366T=
c.1869+1144T= (n.1869+1144T=)
c.2998T= (p.Phe1000=)
c.3010T= (p.Phe1004=)
c.2983T= (p.Phe995=)
c.2929T= (p.Phe977=)
c.2329T= (p.Phe777=)
c.3277T= (p.Phe1093=)
c.3274T= (p.Phe1092=)
c.3193T= (p.Phe1065=)
c.3124T= (p.Phe1042=)
c.2992T= (p.Phe998=)
c.2860T= (p.Phe954=)
20g.32435727dupCA2577366244ASXL1c.3015dup (p.Glu1006Ter)
c.2832dup (p.Glu945Ter)
n.5368dup
c.1869+1146dup (n.1869+1146dup)
c.3000dup (p.Glu1001Ter)
c.3012dup (p.Glu1005Ter)
c.2985dup (p.Glu996Ter)
c.2931dup (p.Glu978Ter)
c.2331dup (p.Glu778Ter)
c.3279dup (p.Glu1094Ter)
c.3276dup (p.Glu1093Ter)
c.3195dup (p.Glu1066Ter)
c.3126dup (p.Glu1043Ter)
c.2994dup (p.Glu999Ter)
c.2862dup (p.Glu955Ter)
20g.32435727delCA9808744ASXL1c.3015del (p.Phe1005LeufsTer19)
c.2832del (p.Phe944LeufsTer19)
n.5368del
c.1869+1146del (n.1869+1146del)
c.3000del (p.Phe1000LeufsTer19)
c.3012del (p.Phe1004LeufsTer19)
c.2985del (p.Phe995LeufsTer19)
c.2931del (p.Phe977LeufsTer19)
c.2331del (p.Phe777LeufsTer19)
c.3279del (p.Phe1093LeufsTer19)
c.3276del (p.Phe1092LeufsTer19)
c.3195del (p.Phe1065LeufsTer19)
c.3126del (p.Phe1042LeufsTer19)
c.2994del (p.Phe998LeufsTer19)
c.2862del (p.Phe954LeufsTer19)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435726T>ACA408561823ASXL1c.3014T>A (p.Phe1005Tyr)
c.2831T>A (p.Phe944Tyr)
n.5367T>A
c.1869+1145T>A (n.1869+1145T>A)
c.2999T>A (p.Phe1000Tyr)
c.3011T>A (p.Phe1004Tyr)
c.2984T>A (p.Phe995Tyr)
c.2930T>A (p.Phe977Tyr)
c.2330T>A (p.Phe777Tyr)
c.3278T>A (p.Phe1093Tyr)
c.3275T>A (p.Phe1092Tyr)
c.3194T>A (p.Phe1065Tyr)
c.3125T>A (p.Phe1042Tyr)
c.2993T>A (p.Phe998Tyr)
c.2861T>A (p.Phe954Tyr)
20g.32435726T>CCA408561824ASXL1c.3014T>C (p.Phe1005Ser)
c.2831T>C (p.Phe944Ser)
n.5367T>C
c.1869+1145T>C (n.1869+1145T>C)
c.2999T>C (p.Phe1000Ser)
c.3011T>C (p.Phe1004Ser)
c.2984T>C (p.Phe995Ser)
c.2930T>C (p.Phe977Ser)
c.2330T>C (p.Phe777Ser)
c.3278T>C (p.Phe1093Ser)
c.3275T>C (p.Phe1092Ser)
c.3194T>C (p.Phe1065Ser)
c.3125T>C (p.Phe1042Ser)
c.2993T>C (p.Phe998Ser)
c.2861T>C (p.Phe954Ser)
20g.32435726T>GCA408561825ASXL1c.3014T>G (p.Phe1005Cys)
c.2831T>G (p.Phe944Cys)
n.5367T>G
c.1869+1145T>G (n.1869+1145T>G)
c.2999T>G (p.Phe1000Cys)
c.3011T>G (p.Phe1004Cys)
c.2984T>G (p.Phe995Cys)
c.2930T>G (p.Phe977Cys)
c.2330T>G (p.Phe777Cys)
c.3278T>G (p.Phe1093Cys)
c.3275T>G (p.Phe1092Cys)
c.3194T>G (p.Phe1065Cys)
c.3125T>G (p.Phe1042Cys)
c.2993T>G (p.Phe998Cys)
c.2861T>G (p.Phe954Cys)
20g.32435727T>ACA408561826ASXL1c.3015T>A (p.Phe1005Leu)
c.2832T>A (p.Phe944Leu)
n.5368T>A
c.1869+1146T>A (n.1869+1146T>A)
c.3000T>A (p.Phe1000Leu)
c.3012T>A (p.Phe1004Leu)
c.2985T>A (p.Phe995Leu)
c.2931T>A (p.Phe977Leu)
c.2331T>A (p.Phe777Leu)
c.3279T>A (p.Phe1093Leu)
c.3276T>A (p.Phe1092Leu)
c.3195T>A (p.Phe1065Leu)
c.3126T>A (p.Phe1042Leu)
c.2994T>A (p.Phe998Leu)
c.2862T>A (p.Phe954Leu)
20g.32435727T>CCA510466971ASXL1c.3015T>C (p.Phe1005=)
c.2832T>C (p.Phe944=)
n.5368T>C
c.1869+1146T>C (n.1869+1146T>C)
c.3000T>C (p.Phe1000=)
c.3012T>C (p.Phe1004=)
c.2985T>C (p.Phe995=)
c.2931T>C (p.Phe977=)
c.2331T>C (p.Phe777=)
c.3279T>C (p.Phe1093=)
c.3276T>C (p.Phe1092=)
c.3195T>C (p.Phe1065=)
c.3126T>C (p.Phe1042=)
c.2994T>C (p.Phe998=)
c.2862T>C (p.Phe954=)
 gnomAD v4
20g.32435727T>GCA408561827ASXL1c.3015T>G (p.Phe1005Leu)
c.2832T>G (p.Phe944Leu)
n.5368T>G
c.1869+1146T>G (n.1869+1146T>G)
c.3000T>G (p.Phe1000Leu)
c.3012T>G (p.Phe1004Leu)
c.2985T>G (p.Phe995Leu)
c.2931T>G (p.Phe977Leu)
c.2331T>G (p.Phe777Leu)
c.3279T>G (p.Phe1093Leu)
c.3276T>G (p.Phe1092Leu)
c.3195T>G (p.Phe1065Leu)
c.3126T>G (p.Phe1042Leu)
c.2994T>G (p.Phe998Leu)
c.2862T>G (p.Phe954Leu)
20g.32435727_32435732delinsTGAAGGCA2360293389ASXL1c.3015_3020delinsTGAAGG (p.Phe1005=)
c.2832_2837delinsTGAAGG (p.Phe944=)
n.5368_5373delinsTGAAGG
c.1869+1146_1869+1151delinsTGAAGG (n.1869+1146_1869+1151delinsTGAAGG)
c.3000_3005delinsTGAAGG (p.Phe1000=)
c.3012_3017delinsTGAAGG (p.Phe1004=)
c.2985_2990delinsTGAAGG (p.Phe995=)
c.2931_2936delinsTGAAGG (p.Phe977=)
c.2331_2336delinsTGAAGG (p.Phe777=)
c.3279_3284delinsTGAAGG (p.Phe1093=)
c.3276_3281delinsTGAAGG (p.Phe1092=)
c.3195_3200delinsTGAAGG (p.Phe1065=)
c.3126_3131delinsTGAAGG (p.Phe1042=)
c.2994_2999delinsTGAAGG (p.Phe998=)
c.2862_2867delinsTGAAGG (p.Phe954=)
20g.32435728G>ACA408561830ASXL1c.3016G>A (p.Glu1006Lys)
c.2833G>A (p.Glu945Lys)
n.5369G>A
c.1869+1147G>A (n.1869+1147G>A)
c.3001G>A (p.Glu1001Lys)
c.3013G>A (p.Glu1005Lys)
c.2986G>A (p.Glu996Lys)
c.2932G>A (p.Glu978Lys)
c.2332G>A (p.Glu778Lys)
c.3280G>A (p.Glu1094Lys)
c.3277G>A (p.Glu1093Lys)
c.3196G>A (p.Glu1066Lys)
c.3127G>A (p.Glu1043Lys)
c.2995G>A (p.Glu999Lys)
c.2863G>A (p.Glu955Lys)
 COSMIC COSMIC
20g.32435728G>CCA408561829ASXL1c.3016G>C (p.Glu1006Gln)
c.2833G>C (p.Glu945Gln)
n.5369G>C
c.1869+1147G>C (n.1869+1147G>C)
c.3001G>C (p.Glu1001Gln)
c.3013G>C (p.Glu1005Gln)
c.2986G>C (p.Glu996Gln)
c.2932G>C (p.Glu978Gln)
c.2332G>C (p.Glu778Gln)
c.3280G>C (p.Glu1094Gln)
c.3277G>C (p.Glu1093Gln)
c.3196G>C (p.Glu1066Gln)
c.3127G>C (p.Glu1043Gln)
c.2995G>C (p.Glu999Gln)
c.2863G>C (p.Glu955Gln)
20g.32435728G>TCA408561828ASXL1c.3016G>T (p.Glu1006Ter)
c.2833G>T (p.Glu945Ter)
n.5369G>T
c.1869+1147G>T (n.1869+1147G>T)
c.3001G>T (p.Glu1001Ter)
c.3013G>T (p.Glu1005Ter)
c.2986G>T (p.Glu996Ter)
c.2932G>T (p.Glu978Ter)
c.2332G>T (p.Glu778Ter)
c.3280G>T (p.Glu1094Ter)
c.3277G>T (p.Glu1093Ter)
c.3196G>T (p.Glu1066Ter)
c.3127G>T (p.Glu1043Ter)
c.2995G>T (p.Glu999Ter)
c.2863G>T (p.Glu955Ter)
20g.32435728_32435732delCA635268551ASXL1c.3016_3020del (p.Glu1006SerfsTer8)
c.2833_2837del (p.Glu945SerfsTer8)
n.5369_5373del
c.1869+1147_1869+1151del (n.1869+1147_1869+1151del)
c.3001_3005del (p.Glu1001SerfsTer8)
c.3013_3017del (p.Glu1005SerfsTer8)
c.2986_2990del (p.Glu996SerfsTer8)
c.2932_2936del (p.Glu978SerfsTer8)
c.2332_2336del (p.Glu778SerfsTer8)
c.3280_3284del (p.Glu1094SerfsTer8)
c.3277_3281del (p.Glu1093SerfsTer8)
c.3196_3200del (p.Glu1066SerfsTer8)
c.3127_3131del (p.Glu1043SerfsTer8)
c.2995_2999del (p.Glu999SerfsTer8)
c.2863_2867del (p.Glu955SerfsTer8)
 dbSNP gnomAD v2 gnomAD v4
20g.32435729A>CCA408561831ASXL1c.3017A>C (p.Glu1006Ala)
c.2834A>C (p.Glu945Ala)
n.5370A>C
c.1869+1148A>C (n.1869+1148A>C)
c.3002A>C (p.Glu1001Ala)
c.3014A>C (p.Glu1005Ala)
c.2987A>C (p.Glu996Ala)
c.2933A>C (p.Glu978Ala)
c.2333A>C (p.Glu778Ala)
c.3281A>C (p.Glu1094Ala)
c.3278A>C (p.Glu1093Ala)
c.3197A>C (p.Glu1066Ala)
c.3128A>C (p.Glu1043Ala)
c.2996A>C (p.Glu999Ala)
c.2864A>C (p.Glu955Ala)
20g.32435729A>GCA408561832ASXL1c.3017A>G (p.Glu1006Gly)
c.2834A>G (p.Glu945Gly)
n.5370A>G
c.1869+1148A>G (n.1869+1148A>G)
c.3002A>G (p.Glu1001Gly)
c.3014A>G (p.Glu1005Gly)
c.2987A>G (p.Glu996Gly)
c.2933A>G (p.Glu978Gly)
c.2333A>G (p.Glu778Gly)
c.3281A>G (p.Glu1094Gly)
c.3278A>G (p.Glu1093Gly)
c.3197A>G (p.Glu1066Gly)
c.3128A>G (p.Glu1043Gly)
c.2996A>G (p.Glu999Gly)
c.2864A>G (p.Glu955Gly)
20g.32435729A>TCA408561833ASXL1c.3017A>T (p.Glu1006Val)
c.2834A>T (p.Glu945Val)
n.5370A>T
c.1869+1148A>T (n.1869+1148A>T)
c.3002A>T (p.Glu1001Val)
c.3014A>T (p.Glu1005Val)
c.2987A>T (p.Glu996Val)
c.2933A>T (p.Glu978Val)
c.2333A>T (p.Glu778Val)
c.3281A>T (p.Glu1094Val)
c.3278A>T (p.Glu1093Val)
c.3197A>T (p.Glu1066Val)
c.3128A>T (p.Glu1043Val)
c.2996A>T (p.Glu999Val)
c.2864A>T (p.Glu955Val)
20g.32435730A=CA2360293390ASXL1c.3018A= (p.Glu1006=)
c.2835A= (p.Glu945=)
n.5371A=
c.1869+1149A= (n.1869+1149A=)
c.3003A= (p.Glu1001=)
c.3015A= (p.Glu1005=)
c.2988A= (p.Glu996=)
c.2934A= (p.Glu978=)
c.2334A= (p.Glu778=)
c.3282A= (p.Glu1094=)
c.3279A= (p.Glu1093=)
c.3198A= (p.Glu1066=)
c.3129A= (p.Glu1043=)
c.2997A= (p.Glu999=)
c.2865A= (p.Glu955=)
20g.32435730A>CCA408561834ASXL1c.3018A>C (p.Glu1006Asp)
c.2835A>C (p.Glu945Asp)
n.5371A>C
c.1869+1149A>C (n.1869+1149A>C)
c.3003A>C (p.Glu1001Asp)
c.3015A>C (p.Glu1005Asp)
c.2988A>C (p.Glu996Asp)
c.2934A>C (p.Glu978Asp)
c.2334A>C (p.Glu778Asp)
c.3282A>C (p.Glu1094Asp)
c.3279A>C (p.Glu1093Asp)
c.3198A>C (p.Glu1066Asp)
c.3129A>C (p.Glu1043Asp)
c.2997A>C (p.Glu999Asp)
c.2865A>C (p.Glu955Asp)
20g.32435730A>GCA313926333ASXL1c.3018A>G (p.Glu1006=)
c.2835A>G (p.Glu945=)
n.5371A>G
c.1869+1149A>G (n.1869+1149A>G)
c.3003A>G (p.Glu1001=)
c.3015A>G (p.Glu1005=)
c.2988A>G (p.Glu996=)
c.2934A>G (p.Glu978=)
c.2334A>G (p.Glu778=)
c.3282A>G (p.Glu1094=)
c.3279A>G (p.Glu1093=)
c.3198A>G (p.Glu1066=)
c.3129A>G (p.Glu1043=)
c.2997A>G (p.Glu999=)
c.2865A>G (p.Glu955=)
 dbSNP gnomAD v3 gnomAD v4
20g.32435730A>TCA408561835ASXL1c.3018A>T (p.Glu1006Asp)
c.2835A>T (p.Glu945Asp)
n.5371A>T
c.1869+1149A>T (n.1869+1149A>T)
c.3003A>T (p.Glu1001Asp)
c.3015A>T (p.Glu1005Asp)
c.2988A>T (p.Glu996Asp)
c.2934A>T (p.Glu978Asp)
c.2334A>T (p.Glu778Asp)
c.3282A>T (p.Glu1094Asp)
c.3279A>T (p.Glu1093Asp)
c.3198A>T (p.Glu1066Asp)
c.3129A>T (p.Glu1043Asp)
c.2997A>T (p.Glu999Asp)
c.2865A>T (p.Glu955Asp)
20g.32435731G>ACA408561836ASXL1c.3019G>A (p.Gly1007Ser)
c.2836G>A (p.Gly946Ser)
n.5372G>A
c.1869+1150G>A (n.1869+1150G>A)
c.3004G>A (p.Gly1002Ser)
c.3016G>A (p.Gly1006Ser)
c.2989G>A (p.Gly997Ser)
c.2935G>A (p.Gly979Ser)
c.2335G>A (p.Gly779Ser)
c.3283G>A (p.Gly1095Ser)
c.3280G>A (p.Gly1094Ser)
c.3199G>A (p.Gly1067Ser)
c.3130G>A (p.Gly1044Ser)
c.2998G>A (p.Gly1000Ser)
c.2866G>A (p.Gly956Ser)
20g.32435731G>CCA408561838ASXL1c.3019G>C (p.Gly1007Arg)
c.2836G>C (p.Gly946Arg)
n.5372G>C
c.1869+1150G>C (n.1869+1150G>C)
c.3004G>C (p.Gly1002Arg)
c.3016G>C (p.Gly1006Arg)
c.2989G>C (p.Gly997Arg)
c.2935G>C (p.Gly979Arg)
c.2335G>C (p.Gly779Arg)
c.3283G>C (p.Gly1095Arg)
c.3280G>C (p.Gly1094Arg)
c.3199G>C (p.Gly1067Arg)
c.3130G>C (p.Gly1044Arg)
c.2998G>C (p.Gly1000Arg)
c.2866G>C (p.Gly956Arg)
20g.32435731G>TCA408561837ASXL1c.3019G>T (p.Gly1007Cys)
c.2836G>T (p.Gly946Cys)
n.5372G>T
c.1869+1150G>T (n.1869+1150G>T)
c.3004G>T (p.Gly1002Cys)
c.3016G>T (p.Gly1006Cys)
c.2989G>T (p.Gly997Cys)
c.2935G>T (p.Gly979Cys)
c.2335G>T (p.Gly779Cys)
c.3283G>T (p.Gly1095Cys)
c.3280G>T (p.Gly1094Cys)
c.3199G>T (p.Gly1067Cys)
c.3130G>T (p.Gly1044Cys)
c.2998G>T (p.Gly1000Cys)
c.2866G>T (p.Gly956Cys)
20g.32435731_32435732insCACA2577366245ASXL1c.3019_3020insCA (p.Gly1007AlafsTer18)
c.2836_2837insCA (p.Gly946AlafsTer18)
n.5372_5373insCA
c.1869+1150_1869+1151insCA (n.1869+1150_1869+1151insCA)
c.3004_3005insCA (p.Gly1002AlafsTer18)
c.3016_3017insCA (p.Gly1006AlafsTer18)
c.2989_2990insCA (p.Gly997AlafsTer18)
c.2935_2936insCA (p.Gly979AlafsTer18)
c.2335_2336insCA (p.Gly779AlafsTer18)
c.3283_3284insCA (p.Gly1095AlafsTer18)
c.3280_3281insCA (p.Gly1094AlafsTer18)
c.3199_3200insCA (p.Gly1067AlafsTer18)
c.3130_3131insCA (p.Gly1044AlafsTer18)
c.2998_2999insCA (p.Gly1000AlafsTer18)
c.2866_2867insCA (p.Gly956AlafsTer18)
20g.32435732G>ACA408561839ASXL1c.3020G>A (p.Gly1007Asp)
c.2837G>A (p.Gly946Asp)
n.5373G>A
c.1869+1151G>A (n.1869+1151G>A)
c.3005G>A (p.Gly1002Asp)
c.3017G>A (p.Gly1006Asp)
c.2990G>A (p.Gly997Asp)
c.2936G>A (p.Gly979Asp)
c.2336G>A (p.Gly779Asp)
c.3284G>A (p.Gly1095Asp)
c.3281G>A (p.Gly1094Asp)
c.3200G>A (p.Gly1067Asp)
c.3131G>A (p.Gly1044Asp)
c.2999G>A (p.Gly1000Asp)
c.2867G>A (p.Gly956Asp)
20g.32435732G>CCA408561840ASXL1c.3020G>C (p.Gly1007Ala)
c.2837G>C (p.Gly946Ala)
n.5373G>C
c.1869+1151G>C (n.1869+1151G>C)
c.3005G>C (p.Gly1002Ala)
c.3017G>C (p.Gly1006Ala)
c.2990G>C (p.Gly997Ala)
c.2936G>C (p.Gly979Ala)
c.2336G>C (p.Gly779Ala)
c.3284G>C (p.Gly1095Ala)
c.3281G>C (p.Gly1094Ala)
c.3200G>C (p.Gly1067Ala)
c.3131G>C (p.Gly1044Ala)
c.2999G>C (p.Gly1000Ala)
c.2867G>C (p.Gly956Ala)
 dbSNP
20g.32435732G>TCA408561841ASXL1c.3020G>T (p.Gly1007Val)
c.2837G>T (p.Gly946Val)
n.5373G>T
c.1869+1151G>T (n.1869+1151G>T)
c.3005G>T (p.Gly1002Val)
c.3017G>T (p.Gly1006Val)
c.2990G>T (p.Gly997Val)
c.2936G>T (p.Gly979Val)
c.2336G>T (p.Gly779Val)
c.3284G>T (p.Gly1095Val)
c.3281G>T (p.Gly1094Val)
c.3200G>T (p.Gly1067Val)
c.3131G>T (p.Gly1044Val)
c.2999G>T (p.Gly1000Val)
c.2867G>T (p.Gly956Val)
20g.32435732_32435733delCA2652401056ASXL1c.3020_3021del (p.Gly1007AlafsTer8)
c.2837_2838del (p.Gly946AlafsTer8)
n.5373_5374del
c.1869+1151_1869+1152del (n.1869+1151_1869+1152del)
c.3005_3006del (p.Gly1002AlafsTer8)
c.3017_3018del (p.Gly1006AlafsTer8)
c.2990_2991del (p.Gly997AlafsTer8)
c.2936_2937del (p.Gly979AlafsTer8)
c.2336_2337del (p.Gly779AlafsTer8)
c.3284_3285del (p.Gly1095AlafsTer8)
c.3281_3282del (p.Gly1094AlafsTer8)
c.3200_3201del (p.Gly1067AlafsTer8)
c.3131_3132del (p.Gly1044AlafsTer8)
c.2999_3000del (p.Gly1000AlafsTer8)
c.2867_2868del (p.Gly956AlafsTer8)
 gnomAD v4
20g.32435733T>ACA510466986ASXL1c.3021T>A (p.Gly1007=)
c.2838T>A (p.Gly946=)
n.5374T>A
c.1869+1152T>A (n.1869+1152T>A)
c.3006T>A (p.Gly1002=)
c.3018T>A (p.Gly1006=)
c.2991T>A (p.Gly997=)
c.2937T>A (p.Gly979=)
c.2337T>A (p.Gly779=)
c.3285T>A (p.Gly1095=)
c.3282T>A (p.Gly1094=)
c.3201T>A (p.Gly1067=)
c.3132T>A (p.Gly1044=)
c.3000T>A (p.Gly1000=)
c.2868T>A (p.Gly956=)
 dbSNP
20g.32435733T>CCA510466987ASXL1c.3021T>C (p.Gly1007=)
c.2838T>C (p.Gly946=)
n.5374T>C
c.1869+1152T>C (n.1869+1152T>C)
c.3006T>C (p.Gly1002=)
c.3018T>C (p.Gly1006=)
c.2991T>C (p.Gly997=)
c.2937T>C (p.Gly979=)
c.2337T>C (p.Gly779=)
c.3285T>C (p.Gly1095=)
c.3282T>C (p.Gly1094=)
c.3201T>C (p.Gly1067=)
c.3132T>C (p.Gly1044=)
c.3000T>C (p.Gly1000=)
c.2868T>C (p.Gly956=)
20g.32435733T>GCA510466990ASXL1c.3021T>G (p.Gly1007=)
c.2838T>G (p.Gly946=)
n.5374T>G
c.1869+1152T>G (n.1869+1152T>G)
c.3006T>G (p.Gly1002=)
c.3018T>G (p.Gly1006=)
c.2991T>G (p.Gly997=)
c.2937T>G (p.Gly979=)
c.2337T>G (p.Gly779=)
c.3285T>G (p.Gly1095=)
c.3282T>G (p.Gly1094=)
c.3201T>G (p.Gly1067=)
c.3132T>G (p.Gly1044=)
c.3000T>G (p.Gly1000=)
c.2868T>G (p.Gly956=)
 ClinVar
20g.32435737_32435741delCA2652401057ASXL1c.3025_3029del (p.Leu1009GlyfsTer5)
c.2842_2846del (p.Leu948GlyfsTer5)
n.5378_5382del
c.1869+1156_1869+1160del (n.1869+1156_1869+1160del)
c.3010_3014del (p.Leu1004GlyfsTer5)
c.3022_3026del (p.Leu1008GlyfsTer5)
c.2995_2999del (p.Leu999GlyfsTer5)
c.2941_2945del (p.Leu981GlyfsTer5)
c.2341_2345del (p.Leu781GlyfsTer5)
c.3289_3293del (p.Leu1097GlyfsTer5)
c.3286_3290del (p.Leu1096GlyfsTer5)
c.3205_3209del (p.Leu1069GlyfsTer5)
c.3136_3140del (p.Leu1046GlyfsTer5)
c.3004_3008del (p.Leu1002GlyfsTer5)
c.2872_2876del (p.Leu958GlyfsTer5)
 gnomAD v4
20g.32435734C>ACA408561842ASXL1c.3022C>A (p.His1008Asn)
c.2839C>A (p.His947Asn)
n.5375C>A
c.1869+1153C>A (n.1869+1153C>A)
c.3007C>A (p.His1003Asn)
c.3019C>A (p.His1007Asn)
c.2992C>A (p.His998Asn)
c.2938C>A (p.His980Asn)
c.2338C>A (p.His780Asn)
c.3286C>A (p.His1096Asn)
c.3283C>A (p.His1095Asn)
c.3202C>A (p.His1068Asn)
c.3133C>A (p.His1045Asn)
c.3001C>A (p.His1001Asn)
c.2869C>A (p.His957Asn)
20g.32435734C>GCA408561843ASXL1c.3022C>G (p.His1008Asp)
c.2839C>G (p.His947Asp)
n.5375C>G
c.1869+1153C>G (n.1869+1153C>G)
c.3007C>G (p.His1003Asp)
c.3019C>G (p.His1007Asp)
c.2992C>G (p.His998Asp)
c.2938C>G (p.His980Asp)
c.2338C>G (p.His780Asp)
c.3286C>G (p.His1096Asp)
c.3283C>G (p.His1095Asp)
c.3202C>G (p.His1068Asp)
c.3133C>G (p.His1045Asp)
c.3001C>G (p.His1001Asp)
c.2869C>G (p.His957Asp)
 dbSNP
20g.32435734C>TCA408561844ASXL1c.3022C>T (p.His1008Tyr)
c.2839C>T (p.His947Tyr)
n.5375C>T
c.1869+1153C>T (n.1869+1153C>T)
c.3007C>T (p.His1003Tyr)
c.3019C>T (p.His1007Tyr)
c.2992C>T (p.His998Tyr)
c.2938C>T (p.His980Tyr)
c.2338C>T (p.His780Tyr)
c.3286C>T (p.His1096Tyr)
c.3283C>T (p.His1095Tyr)
c.3202C>T (p.His1068Tyr)
c.3133C>T (p.His1045Tyr)
c.3001C>T (p.His1001Tyr)
c.2869C>T (p.His957Tyr)
20g.32435735A>CCA408561845ASXL1c.3023A>C (p.His1008Pro)
c.2840A>C (p.His947Pro)
n.5376A>C
c.1869+1154A>C (n.1869+1154A>C)
c.3008A>C (p.His1003Pro)
c.3020A>C (p.His1007Pro)
c.2993A>C (p.His998Pro)
c.2939A>C (p.His980Pro)
c.2339A>C (p.His780Pro)
c.3287A>C (p.His1096Pro)
c.3284A>C (p.His1095Pro)
c.3203A>C (p.His1068Pro)
c.3134A>C (p.His1045Pro)
c.3002A>C (p.His1001Pro)
c.2870A>C (p.His957Pro)
20g.32435735A>GCA408561846ASXL1c.3023A>G (p.His1008Arg)
c.2840A>G (p.His947Arg)
n.5376A>G
c.1869+1154A>G (n.1869+1154A>G)
c.3008A>G (p.His1003Arg)
c.3020A>G (p.His1007Arg)
c.2993A>G (p.His998Arg)
c.2939A>G (p.His980Arg)
c.2339A>G (p.His780Arg)
c.3287A>G (p.His1096Arg)
c.3284A>G (p.His1095Arg)
c.3203A>G (p.His1068Arg)
c.3134A>G (p.His1045Arg)
c.3002A>G (p.His1001Arg)
c.2870A>G (p.His957Arg)
20g.32435735A>TCA408561847ASXL1c.3023A>T (p.His1008Leu)
c.2840A>T (p.His947Leu)
n.5376A>T
c.1869+1154A>T (n.1869+1154A>T)
c.3008A>T (p.His1003Leu)
c.3020A>T (p.His1007Leu)
c.2993A>T (p.His998Leu)
c.2939A>T (p.His980Leu)
c.2339A>T (p.His780Leu)
c.3287A>T (p.His1096Leu)
c.3284A>T (p.His1095Leu)
c.3203A>T (p.His1068Leu)
c.3134A>T (p.His1045Leu)
c.3002A>T (p.His1001Leu)
c.2870A>T (p.His957Leu)
20g.32435736C>ACA408561848ASXL1c.3024C>A (p.His1008Gln)
c.2841C>A (p.His947Gln)
n.5377C>A
c.1869+1155C>A (n.1869+1155C>A)
c.3009C>A (p.His1003Gln)
c.3021C>A (p.His1007Gln)
c.2994C>A (p.His998Gln)
c.2940C>A (p.His980Gln)
c.2340C>A (p.His780Gln)
c.3288C>A (p.His1096Gln)
c.3285C>A (p.His1095Gln)
c.3204C>A (p.His1068Gln)
c.3135C>A (p.His1045Gln)
c.3003C>A (p.His1001Gln)
c.2871C>A (p.His957Gln)
20g.32435736C>GCA408561849ASXL1c.3024C>G (p.His1008Gln)
c.2841C>G (p.His947Gln)
n.5377C>G
c.1869+1155C>G (n.1869+1155C>G)
c.3009C>G (p.His1003Gln)
c.3021C>G (p.His1007Gln)
c.2994C>G (p.His998Gln)
c.2940C>G (p.His980Gln)
c.2340C>G (p.His780Gln)
c.3288C>G (p.His1096Gln)
c.3285C>G (p.His1095Gln)
c.3204C>G (p.His1068Gln)
c.3135C>G (p.His1045Gln)
c.3003C>G (p.His1001Gln)
c.2871C>G (p.His957Gln)
 gnomAD v4
20g.32435736C>TCA510467000ASXL1c.3024C>T (p.His1008=)
c.2841C>T (p.His947=)
n.5377C>T
c.1869+1155C>T (n.1869+1155C>T)
c.3009C>T (p.His1003=)
c.3021C>T (p.His1007=)
c.2994C>T (p.His998=)
c.2940C>T (p.His980=)
c.2340C>T (p.His780=)
c.3288C>T (p.His1096=)
c.3285C>T (p.His1095=)
c.3204C>T (p.His1068=)
c.3135C>T (p.His1045=)
c.3003C>T (p.His1001=)
c.2871C>T (p.His957=)
20g.32435737C>ACA408561850ASXL1c.3025C>A (p.Leu1009Ile)
c.2842C>A (p.Leu948Ile)
n.5378C>A
c.1869+1156C>A (n.1869+1156C>A)
c.3010C>A (p.Leu1004Ile)
c.3022C>A (p.Leu1008Ile)
c.2995C>A (p.Leu999Ile)
c.2941C>A (p.Leu981Ile)
c.2341C>A (p.Leu781Ile)
c.3289C>A (p.Leu1097Ile)
c.3286C>A (p.Leu1096Ile)
c.3205C>A (p.Leu1069Ile)
c.3136C>A (p.Leu1046Ile)
c.3004C>A (p.Leu1002Ile)
c.2872C>A (p.Leu958Ile)
20g.32435737C>GCA408561852ASXL1c.3025C>G (p.Leu1009Val)
c.2842C>G (p.Leu948Val)
n.5378C>G
c.1869+1156C>G (n.1869+1156C>G)
c.3010C>G (p.Leu1004Val)
c.3022C>G (p.Leu1008Val)
c.2995C>G (p.Leu999Val)
c.2941C>G (p.Leu981Val)
c.2341C>G (p.Leu781Val)
c.3289C>G (p.Leu1097Val)
c.3286C>G (p.Leu1096Val)
c.3205C>G (p.Leu1069Val)
c.3136C>G (p.Leu1046Val)
c.3004C>G (p.Leu1002Val)
c.2872C>G (p.Leu958Val)
20g.32435737C>TCA408561851ASXL1c.3025C>T (p.Leu1009Phe)
c.2842C>T (p.Leu948Phe)
n.5378C>T
c.1869+1156C>T (n.1869+1156C>T)
c.3010C>T (p.Leu1004Phe)
c.3022C>T (p.Leu1008Phe)
c.2995C>T (p.Leu999Phe)
c.2941C>T (p.Leu981Phe)
c.2341C>T (p.Leu781Phe)
c.3289C>T (p.Leu1097Phe)
c.3286C>T (p.Leu1096Phe)
c.3205C>T (p.Leu1069Phe)
c.3136C>T (p.Leu1046Phe)
c.3004C>T (p.Leu1002Phe)
c.2872C>T (p.Leu958Phe)
 dbSNP
20g.32435738T>ACA408561853ASXL1c.3026T>A (p.Leu1009His)
c.2843T>A (p.Leu948His)
n.5379T>A
c.1869+1157T>A (n.1869+1157T>A)
c.3011T>A (p.Leu1004His)
c.3023T>A (p.Leu1008His)
c.2996T>A (p.Leu999His)
c.2942T>A (p.Leu981His)
c.2342T>A (p.Leu781His)
c.3290T>A (p.Leu1097His)
c.3287T>A (p.Leu1096His)
c.3206T>A (p.Leu1069His)
c.3137T>A (p.Leu1046His)
c.3005T>A (p.Leu1002His)
c.2873T>A (p.Leu958His)
20g.32435738T>CCA408561855ASXL1c.3026T>C (p.Leu1009Pro)
c.2843T>C (p.Leu948Pro)
n.5379T>C
c.1869+1157T>C (n.1869+1157T>C)
c.3011T>C (p.Leu1004Pro)
c.3023T>C (p.Leu1008Pro)
c.2996T>C (p.Leu999Pro)
c.2942T>C (p.Leu981Pro)
c.2342T>C (p.Leu781Pro)
c.3290T>C (p.Leu1097Pro)
c.3287T>C (p.Leu1096Pro)
c.3206T>C (p.Leu1069Pro)
c.3137T>C (p.Leu1046Pro)
c.3005T>C (p.Leu1002Pro)
c.2873T>C (p.Leu958Pro)
 gnomAD v4
20g.32435738T>GCA408561854ASXL1c.3026T>G (p.Leu1009Arg)
c.2843T>G (p.Leu948Arg)
n.5379T>G
c.1869+1157T>G (n.1869+1157T>G)
c.3011T>G (p.Leu1004Arg)
c.3023T>G (p.Leu1008Arg)
c.2996T>G (p.Leu999Arg)
c.2942T>G (p.Leu981Arg)
c.2342T>G (p.Leu781Arg)
c.3290T>G (p.Leu1097Arg)
c.3287T>G (p.Leu1096Arg)
c.3206T>G (p.Leu1069Arg)
c.3137T>G (p.Leu1046Arg)
c.3005T>G (p.Leu1002Arg)
c.2873T>G (p.Leu958Arg)
20g.32435739C>ACA510467016ASXL1c.3027C>A (p.Leu1009=)
c.2844C>A (p.Leu948=)
n.5380C>A
c.1869+1158C>A (n.1869+1158C>A)
c.3012C>A (p.Leu1004=)
c.3024C>A (p.Leu1008=)
c.2997C>A (p.Leu999=)
c.2943C>A (p.Leu981=)
c.2343C>A (p.Leu781=)
c.3291C>A (p.Leu1097=)
c.3288C>A (p.Leu1096=)
c.3207C>A (p.Leu1069=)
c.3138C>A (p.Leu1046=)
c.3006C>A (p.Leu1002=)
c.2874C>A (p.Leu958=)
20g.32435739C>GCA510467008ASXL1c.3027C>G (p.Leu1009=)
c.2844C>G (p.Leu948=)
n.5380C>G
c.1869+1158C>G (n.1869+1158C>G)
c.3012C>G (p.Leu1004=)
c.3024C>G (p.Leu1008=)
c.2997C>G (p.Leu999=)
c.2943C>G (p.Leu981=)
c.2343C>G (p.Leu781=)
c.3291C>G (p.Leu1097=)
c.3288C>G (p.Leu1096=)
c.3207C>G (p.Leu1069=)
c.3138C>G (p.Leu1046=)
c.3006C>G (p.Leu1002=)
c.2874C>G (p.Leu958=)
20g.32435739C>TCA510467011ASXL1c.3027C>T (p.Leu1009=)
c.2844C>T (p.Leu948=)
n.5380C>T
c.1869+1158C>T (n.1869+1158C>T)
c.3012C>T (p.Leu1004=)
c.3024C>T (p.Leu1008=)
c.2997C>T (p.Leu999=)
c.2943C>T (p.Leu981=)
c.2343C>T (p.Leu781=)
c.3291C>T (p.Leu1097=)
c.3288C>T (p.Leu1096=)
c.3207C>T (p.Leu1069=)
c.3138C>T (p.Leu1046=)
c.3006C>T (p.Leu1002=)
c.2874C>T (p.Leu958=)
20g.32435740A>CCA408561856ASXL1c.3028A>C (p.Thr1010Pro)
c.2845A>C (p.Thr949Pro)
n.5381A>C
c.1869+1159A>C (n.1869+1159A>C)
c.3013A>C (p.Thr1005Pro)
c.3025A>C (p.Thr1009Pro)
c.2998A>C (p.Thr1000Pro)
c.2944A>C (p.Thr982Pro)
c.2344A>C (p.Thr782Pro)
c.3292A>C (p.Thr1098Pro)
c.3289A>C (p.Thr1097Pro)
c.3208A>C (p.Thr1070Pro)
c.3139A>C (p.Thr1047Pro)
c.3007A>C (p.Thr1003Pro)
c.2875A>C (p.Thr959Pro)
20g.32435740A>GCA408561857ASXL1c.3028A>G (p.Thr1010Ala)
c.2845A>G (p.Thr949Ala)
n.5381A>G
c.1869+1159A>G (n.1869+1159A>G)
c.3013A>G (p.Thr1005Ala)
c.3025A>G (p.Thr1009Ala)
c.2998A>G (p.Thr1000Ala)
c.2944A>G (p.Thr982Ala)
c.2344A>G (p.Thr782Ala)
c.3292A>G (p.Thr1098Ala)
c.3289A>G (p.Thr1097Ala)
c.3208A>G (p.Thr1070Ala)
c.3139A>G (p.Thr1047Ala)
c.3007A>G (p.Thr1003Ala)
c.2875A>G (p.Thr959Ala)
 ClinVar
20g.32435740A>TCA408561858ASXL1c.3028A>T (p.Thr1010Ser)
c.2845A>T (p.Thr949Ser)
n.5381A>T
c.1869+1159A>T (n.1869+1159A>T)
c.3013A>T (p.Thr1005Ser)
c.3025A>T (p.Thr1009Ser)
c.2998A>T (p.Thr1000Ser)
c.2944A>T (p.Thr982Ser)
c.2344A>T (p.Thr782Ser)
c.3292A>T (p.Thr1098Ser)
c.3289A>T (p.Thr1097Ser)
c.3208A>T (p.Thr1070Ser)
c.3139A>T (p.Thr1047Ser)
c.3007A>T (p.Thr1003Ser)
c.2875A>T (p.Thr959Ser)
20g.32435741C>ACA408561859ASXL1c.3029C>A (p.Thr1010Lys)
c.2846C>A (p.Thr949Lys)
n.5382C>A
c.1869+1160C>A (n.1869+1160C>A)
c.3014C>A (p.Thr1005Lys)
c.3026C>A (p.Thr1009Lys)
c.2999C>A (p.Thr1000Lys)
c.2945C>A (p.Thr982Lys)
c.2345C>A (p.Thr782Lys)
c.3293C>A (p.Thr1098Lys)
c.3290C>A (p.Thr1097Lys)
c.3209C>A (p.Thr1070Lys)
c.3140C>A (p.Thr1047Lys)
c.3008C>A (p.Thr1003Lys)
c.2876C>A (p.Thr959Lys)
20g.32435741C=CA2360293391ASXL1c.3029C= (p.Thr1010=)
c.2846C= (p.Thr949=)
n.5382C=
c.1869+1160C= (n.1869+1160C=)
c.3014C= (p.Thr1005=)
c.3026C= (p.Thr1009=)
c.2999C= (p.Thr1000=)
c.2945C= (p.Thr982=)
c.2345C= (p.Thr782=)
c.3293C= (p.Thr1098=)
c.3290C= (p.Thr1097=)
c.3209C= (p.Thr1070=)
c.3140C= (p.Thr1047=)
c.3008C= (p.Thr1003=)
c.2876C= (p.Thr959=)
20g.32435741C>GCA313926334ASXL1c.3029C>G (p.Thr1010Arg)
c.2846C>G (p.Thr949Arg)
n.5382C>G
c.1869+1160C>G (n.1869+1160C>G)
c.3014C>G (p.Thr1005Arg)
c.3026C>G (p.Thr1009Arg)
c.2999C>G (p.Thr1000Arg)
c.2945C>G (p.Thr982Arg)
c.2345C>G (p.Thr782Arg)
c.3293C>G (p.Thr1098Arg)
c.3290C>G (p.Thr1097Arg)
c.3209C>G (p.Thr1070Arg)
c.3140C>G (p.Thr1047Arg)
c.3008C>G (p.Thr1003Arg)
c.2876C>G (p.Thr959Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.32435741C>TCA9808745ASXL1c.3029C>T (p.Thr1010Met)
c.2846C>T (p.Thr949Met)
n.5382C>T
c.1869+1160C>T (n.1869+1160C>T)
c.3014C>T (p.Thr1005Met)
c.3026C>T (p.Thr1009Met)
c.2999C>T (p.Thr1000Met)
c.2945C>T (p.Thr982Met)
c.2345C>T (p.Thr782Met)
c.3293C>T (p.Thr1098Met)
c.3290C>T (p.Thr1097Met)
c.3209C>T (p.Thr1070Met)
c.3140C>T (p.Thr1047Met)
c.3008C>T (p.Thr1003Met)
c.2876C>T (p.Thr959Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435742G>ACA9808746ASXL1c.3030G>A (p.Thr1010=)
c.2847G>A (p.Thr949=)
n.5383G>A
c.1869+1161G>A (n.1869+1161G>A)
c.3015G>A (p.Thr1005=)
c.3027G>A (p.Thr1009=)
c.3000G>A (p.Thr1000=)
c.2946G>A (p.Thr982=)
c.2346G>A (p.Thr782=)
c.3294G>A (p.Thr1098=)
c.3291G>A (p.Thr1097=)
c.3210G>A (p.Thr1070=)
c.3141G>A (p.Thr1047=)
c.3009G>A (p.Thr1003=)
c.2877G>A (p.Thr959=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435742G>CCA510467021ASXL1c.3030G>C (p.Thr1010=)
c.2847G>C (p.Thr949=)
n.5383G>C
c.1869+1161G>C (n.1869+1161G>C)
c.3015G>C (p.Thr1005=)
c.3027G>C (p.Thr1009=)
c.3000G>C (p.Thr1000=)
c.2946G>C (p.Thr982=)
c.2346G>C (p.Thr782=)
c.3294G>C (p.Thr1098=)
c.3291G>C (p.Thr1097=)
c.3210G>C (p.Thr1070=)
c.3141G>C (p.Thr1047=)
c.3009G>C (p.Thr1003=)
c.2877G>C (p.Thr959=)
20g.32435742G=CA2360293392ASXL1c.3030G= (p.Thr1010=)
c.2847G= (p.Thr949=)
n.5383G=
c.1869+1161G= (n.1869+1161G=)
c.3015G= (p.Thr1005=)
c.3027G= (p.Thr1009=)
c.3000G= (p.Thr1000=)
c.2946G= (p.Thr982=)
c.2346G= (p.Thr782=)
c.3294G= (p.Thr1098=)
c.3291G= (p.Thr1097=)
c.3210G= (p.Thr1070=)
c.3141G= (p.Thr1047=)
c.3009G= (p.Thr1003=)
c.2877G= (p.Thr959=)
20g.32435742G>TCA9808747ASXL1c.3030G>T (p.Thr1010=)
c.2847G>T (p.Thr949=)
n.5383G>T
c.1869+1161G>T (n.1869+1161G>T)
c.3015G>T (p.Thr1005=)
c.3027G>T (p.Thr1009=)
c.3000G>T (p.Thr1000=)
c.2946G>T (p.Thr982=)
c.2346G>T (p.Thr782=)
c.3294G>T (p.Thr1098=)
c.3291G>T (p.Thr1097=)
c.3210G>T (p.Thr1070=)
c.3141G>T (p.Thr1047=)
c.3009G>T (p.Thr1003=)
c.2877G>T (p.Thr959=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
20g.32435743G>ACA408561860ASXL1c.3031G>A (p.Glu1011Lys)
c.2848G>A (p.Glu950Lys)
n.5384G>A
c.1869+1162G>A (n.1869+1162G>A)
c.3016G>A (p.Glu1006Lys)
c.3028G>A (p.Glu1010Lys)
c.3001G>A (p.Glu1001Lys)
c.2947G>A (p.Glu983Lys)
c.2347G>A (p.Glu783Lys)
c.3295G>A (p.Glu1099Lys)
c.3292G>A (p.Glu1098Lys)
c.3211G>A (p.Glu1071Lys)
c.3142G>A (p.Glu1048Lys)
c.3010G>A (p.Glu1004Lys)
c.2878G>A (p.Glu960Lys)
20g.32435743G>CCA408561861ASXL1c.3031G>C (p.Glu1011Gln)
c.2848G>C (p.Glu950Gln)
n.5384G>C
c.1869+1162G>C (n.1869+1162G>C)
c.3016G>C (p.Glu1006Gln)
c.3028G>C (p.Glu1010Gln)
c.3001G>C (p.Glu1001Gln)
c.2947G>C (p.Glu983Gln)
c.2347G>C (p.Glu783Gln)
c.3295G>C (p.Glu1099Gln)
c.3292G>C (p.Glu1098Gln)
c.3211G>C (p.Glu1071Gln)
c.3142G>C (p.Glu1048Gln)
c.3010G>C (p.Glu1004Gln)
c.2878G>C (p.Glu960Gln)
20g.32435743G>TCA408561862ASXL1c.3031G>T (p.Glu1011Ter)
c.2848G>T (p.Glu950Ter)
n.5384G>T
c.1869+1162G>T (n.1869+1162G>T)
c.3016G>T (p.Glu1006Ter)
c.3028G>T (p.Glu1010Ter)
c.3001G>T (p.Glu1001Ter)
c.2947G>T (p.Glu983Ter)
c.2347G>T (p.Glu783Ter)
c.3295G>T (p.Glu1099Ter)
c.3292G>T (p.Glu1098Ter)
c.3211G>T (p.Glu1071Ter)
c.3142G>T (p.Glu1048Ter)
c.3010G>T (p.Glu1004Ter)
c.2878G>T (p.Glu960Ter)
20g.32435744A>CCA408561865ASXL1c.3032A>C (p.Glu1011Ala)
c.2849A>C (p.Glu950Ala)
n.5385A>C
c.1869+1163A>C (n.1869+1163A>C)
c.3017A>C (p.Glu1006Ala)
c.3029A>C (p.Glu1010Ala)
c.3002A>C (p.Glu1001Ala)
c.2948A>C (p.Glu983Ala)
c.2348A>C (p.Glu783Ala)
c.3296A>C (p.Glu1099Ala)
c.3293A>C (p.Glu1098Ala)
c.3212A>C (p.Glu1071Ala)
c.3143A>C (p.Glu1048Ala)
c.3011A>C (p.Glu1004Ala)
c.2879A>C (p.Glu960Ala)
20g.32435744A>GCA408561863ASXL1c.3032A>G (p.Glu1011Gly)
c.2849A>G (p.Glu950Gly)
n.5385A>G
c.1869+1163A>G (n.1869+1163A>G)
c.3017A>G (p.Glu1006Gly)
c.3029A>G (p.Glu1010Gly)
c.3002A>G (p.Glu1001Gly)
c.2948A>G (p.Glu983Gly)
c.2348A>G (p.Glu783Gly)
c.3296A>G (p.Glu1099Gly)
c.3293A>G (p.Glu1098Gly)
c.3212A>G (p.Glu1071Gly)
c.3143A>G (p.Glu1048Gly)
c.3011A>G (p.Glu1004Gly)
c.2879A>G (p.Glu960Gly)
20g.32435744A>TCA408561864ASXL1c.3032A>T (p.Glu1011Val)
c.2849A>T (p.Glu950Val)
n.5385A>T
c.1869+1163A>T (n.1869+1163A>T)
c.3017A>T (p.Glu1006Val)
c.3029A>T (p.Glu1010Val)
c.3002A>T (p.Glu1001Val)
c.2948A>T (p.Glu983Val)
c.2348A>T (p.Glu783Val)
c.3296A>T (p.Glu1099Val)
c.3293A>T (p.Glu1098Val)
c.3212A>T (p.Glu1071Val)
c.3143A>T (p.Glu1048Val)
c.3011A>T (p.Glu1004Val)
c.2879A>T (p.Glu960Val)
20g.32435745G>ACA510466662ASXL1c.3033G>A (p.Glu1011=)
c.2850G>A (p.Glu950=)
n.5386G>A
c.1869+1164G>A (n.1869+1164G>A)
c.3018G>A (p.Glu1006=)
c.3030G>A (p.Glu1010=)
c.3003G>A (p.Glu1001=)
c.2949G>A (p.Glu983=)
c.2349G>A (p.Glu783=)
c.3297G>A (p.Glu1099=)
c.3294G>A (p.Glu1098=)
c.3213G>A (p.Glu1071=)
c.3144G>A (p.Glu1048=)
c.3012G>A (p.Glu1004=)
c.2880G>A (p.Glu960=)
 dbSNP
20g.32435745G>CCA408562206ASXL1c.3033G>C (p.Glu1011Asp)
c.2850G>C (p.Glu950Asp)
n.5386G>C
c.1869+1164G>C (n.1869+1164G>C)
c.3018G>C (p.Glu1006Asp)
c.3030G>C (p.Glu1010Asp)
c.3003G>C (p.Glu1001Asp)
c.2949G>C (p.Glu983Asp)
c.2349G>C (p.Glu783Asp)
c.3297G>C (p.Glu1099Asp)
c.3294G>C (p.Glu1098Asp)
c.3213G>C (p.Glu1071Asp)
c.3144G>C (p.Glu1048Asp)
c.3012G>C (p.Glu1004Asp)
c.2880G>C (p.Glu960Asp)
20g.32435745G>TCA408562207ASXL1c.3033G>T (p.Glu1011Asp)
c.2850G>T (p.Glu950Asp)
n.5386G>T
c.1869+1164G>T (n.1869+1164G>T)
c.3018G>T (p.Glu1006Asp)
c.3030G>T (p.Glu1010Asp)
c.3003G>T (p.Glu1001Asp)
c.2949G>T (p.Glu983Asp)
c.2349G>T (p.Glu783Asp)
c.3297G>T (p.Glu1099Asp)
c.3294G>T (p.Glu1098Asp)
c.3213G>T (p.Glu1071Asp)
c.3144G>T (p.Glu1048Asp)
c.3012G>T (p.Glu1004Asp)
c.2880G>T (p.Glu960Asp)
20g.32435746G>ACA408562208ASXL1c.3034G>A (p.Asp1012Asn)
c.2851G>A (p.Asp951Asn)
n.5387G>A
c.1869+1165G>A (n.1869+1165G>A)
c.3019G>A (p.Asp1007Asn)
c.3031G>A (p.Asp1011Asn)
c.3004G>A (p.Asp1002Asn)
c.2950G>A (p.Asp984Asn)
c.2350G>A (p.Asp784Asn)
c.3298G>A (p.Asp1100Asn)
c.3295G>A (p.Asp1099Asn)
c.3214G>A (p.Asp1072Asn)
c.3145G>A (p.Asp1049Asn)
c.3013G>A (p.Asp1005Asn)
c.2881G>A (p.Asp961Asn)
20g.32435746G>CCA408562209ASXL1c.3034G>C (p.Asp1012His)
c.2851G>C (p.Asp951His)
n.5387G>C
c.1869+1165G>C (n.1869+1165G>C)
c.3019G>C (p.Asp1007His)
c.3031G>C (p.Asp1011His)
c.3004G>C (p.Asp1002His)
c.2950G>C (p.Asp984His)
c.2350G>C (p.Asp784His)
c.3298G>C (p.Asp1100His)
c.3295G>C (p.Asp1099His)
c.3214G>C (p.Asp1072His)
c.3145G>C (p.Asp1049His)
c.3013G>C (p.Asp1005His)
c.2881G>C (p.Asp961His)
20g.32435746G>TCA408562210ASXL1c.3034G>T (p.Asp1012Tyr)
c.2851G>T (p.Asp951Tyr)
n.5387G>T
c.1869+1165G>T (n.1869+1165G>T)
c.3019G>T (p.Asp1007Tyr)
c.3031G>T (p.Asp1011Tyr)
c.3004G>T (p.Asp1002Tyr)
c.2950G>T (p.Asp984Tyr)
c.2350G>T (p.Asp784Tyr)
c.3298G>T (p.Asp1100Tyr)
c.3295G>T (p.Asp1099Tyr)
c.3214G>T (p.Asp1072Tyr)
c.3145G>T (p.Asp1049Tyr)
c.3013G>T (p.Asp1005Tyr)
c.2881G>T (p.Asp961Tyr)
20g.32435747A>CCA408562211ASXL1c.3035A>C (p.Asp1012Ala)
c.2852A>C (p.Asp951Ala)
n.5388A>C
c.1869+1166A>C (n.1869+1166A>C)
c.3020A>C (p.Asp1007Ala)
c.3032A>C (p.Asp1011Ala)
c.3005A>C (p.Asp1002Ala)
c.2951A>C (p.Asp984Ala)
c.2351A>C (p.Asp784Ala)
c.3299A>C (p.Asp1100Ala)
c.3296A>C (p.Asp1099Ala)
c.3215A>C (p.Asp1072Ala)
c.3146A>C (p.Asp1049Ala)
c.3014A>C (p.Asp1005Ala)
c.2882A>C (p.Asp961Ala)
20g.32435747A>GCA408562212ASXL1c.3035A>G (p.Asp1012Gly)
c.2852A>G (p.Asp951Gly)
n.5388A>G
c.1869+1166A>G (n.1869+1166A>G)
c.3020A>G (p.Asp1007Gly)
c.3032A>G (p.Asp1011Gly)
c.3005A>G (p.Asp1002Gly)
c.2951A>G (p.Asp984Gly)
c.2351A>G (p.Asp784Gly)
c.3299A>G (p.Asp1100Gly)
c.3296A>G (p.Asp1099Gly)
c.3215A>G (p.Asp1072Gly)
c.3146A>G (p.Asp1049Gly)
c.3014A>G (p.Asp1005Gly)
c.2882A>G (p.Asp961Gly)
20g.32435747A>TCA408562213ASXL1c.3035A>T (p.Asp1012Val)
c.2852A>T (p.Asp951Val)
n.5388A>T
c.1869+1166A>T (n.1869+1166A>T)
c.3020A>T (p.Asp1007Val)
c.3032A>T (p.Asp1011Val)
c.3005A>T (p.Asp1002Val)
c.2951A>T (p.Asp984Val)
c.2351A>T (p.Asp784Val)
c.3299A>T (p.Asp1100Val)
c.3296A>T (p.Asp1099Val)
c.3215A>T (p.Asp1072Val)
c.3146A>T (p.Asp1049Val)
c.3014A>T (p.Asp1005Val)
c.2882A>T (p.Asp961Val)
20g.32435748C>ACA408562214ASXL1c.3036C>A (p.Asp1012Glu)
c.2853C>A (p.Asp951Glu)
n.5389C>A
c.1869+1167C>A (n.1869+1167C>A)
c.3021C>A (p.Asp1007Glu)
c.3033C>A (p.Asp1011Glu)
c.3006C>A (p.Asp1002Glu)
c.2952C>A (p.Asp984Glu)
c.2352C>A (p.Asp784Glu)
c.3300C>A (p.Asp1100Glu)
c.3297C>A (p.Asp1099Glu)
c.3216C>A (p.Asp1072Glu)
c.3147C>A (p.Asp1049Glu)
c.3015C>A (p.Asp1005Glu)
c.2883C>A (p.Asp961Glu)
20g.32435748C=CA2360293393ASXL1c.3036C= (p.Asp1012=)
c.2853C= (p.Asp951=)
n.5389C=
c.1869+1167C= (n.1869+1167C=)
c.3021C= (p.Asp1007=)
c.3033C= (p.Asp1011=)
c.3006C= (p.Asp1002=)
c.2952C= (p.Asp984=)
c.2352C= (p.Asp784=)
c.3300C= (p.Asp1100=)
c.3297C= (p.Asp1099=)
c.3216C= (p.Asp1072=)
c.3147C= (p.Asp1049=)
c.3015C= (p.Asp1005=)
c.2883C= (p.Asp961=)
20g.32435748C>GCA408562215ASXL1c.3036C>G (p.Asp1012Glu)
c.2853C>G (p.Asp951Glu)
n.5389C>G
c.1869+1167C>G (n.1869+1167C>G)
c.3021C>G (p.Asp1007Glu)
c.3033C>G (p.Asp1011Glu)
c.3006C>G (p.Asp1002Glu)
c.2952C>G (p.Asp984Glu)
c.2352C>G (p.Asp784Glu)
c.3300C>G (p.Asp1100Glu)
c.3297C>G (p.Asp1099Glu)
c.3216C>G (p.Asp1072Glu)
c.3147C>G (p.Asp1049Glu)
c.3015C>G (p.Asp1005Glu)
c.2883C>G (p.Asp961Glu)
 dbSNP
20g.32435748C>TCA510466668ASXL1c.3036C>T (p.Asp1012=)
c.2853C>T (p.Asp951=)
n.5389C>T
c.1869+1167C>T (n.1869+1167C>T)
c.3021C>T (p.Asp1007=)
c.3033C>T (p.Asp1011=)
c.3006C>T (p.Asp1002=)
c.2952C>T (p.Asp984=)
c.2352C>T (p.Asp784=)
c.3300C>T (p.Asp1100=)
c.3297C>T (p.Asp1099=)
c.3216C>T (p.Asp1072=)
c.3147C>T (p.Asp1049=)
c.3015C>T (p.Asp1005=)
c.2883C>T (p.Asp961=)
20g.32435749A>CCA408562217ASXL1c.3037A>C (p.Ser1013Arg)
c.2854A>C (p.Ser952Arg)
n.5390A>C
c.1869+1168A>C (n.1869+1168A>C)
c.3022A>C (p.Ser1008Arg)
c.3034A>C (p.Ser1012Arg)
c.3007A>C (p.Ser1003Arg)
c.2953A>C (p.Ser985Arg)
c.2353A>C (p.Ser785Arg)
c.3301A>C (p.Ser1101Arg)
c.3298A>C (p.Ser1100Arg)
c.3217A>C (p.Ser1073Arg)
c.3148A>C (p.Ser1050Arg)
c.3016A>C (p.Ser1006Arg)
c.2884A>C (p.Ser962Arg)
 gnomAD v4
20g.32435749A>GCA408562218ASXL1c.3037A>G (p.Ser1013Gly)
c.2854A>G (p.Ser952Gly)
n.5390A>G
c.1869+1168A>G (n.1869+1168A>G)
c.3022A>G (p.Ser1008Gly)
c.3034A>G (p.Ser1012Gly)
c.3007A>G (p.Ser1003Gly)
c.2953A>G (p.Ser985Gly)
c.2353A>G (p.Ser785Gly)
c.3301A>G (p.Ser1101Gly)
c.3298A>G (p.Ser1100Gly)
c.3217A>G (p.Ser1073Gly)
c.3148A>G (p.Ser1050Gly)
c.3016A>G (p.Ser1006Gly)
c.2884A>G (p.Ser962Gly)
20g.32435749A>TCA408562216ASXL1c.3037A>T (p.Ser1013Cys)
c.2854A>T (p.Ser952Cys)
n.5390A>T
c.1869+1168A>T (n.1869+1168A>T)
c.3022A>T (p.Ser1008Cys)
c.3034A>T (p.Ser1012Cys)
c.3007A>T (p.Ser1003Cys)
c.2953A>T (p.Ser985Cys)
c.2353A>T (p.Ser785Cys)
c.3301A>T (p.Ser1101Cys)
c.3298A>T (p.Ser1100Cys)
c.3217A>T (p.Ser1073Cys)
c.3148A>T (p.Ser1050Cys)
c.3016A>T (p.Ser1006Cys)
c.2884A>T (p.Ser962Cys)
20g.32435751_32435757dupCA16620925ASXL1c.3039_3045dup (p.Ala1016GlnfsTer2)
c.2856_2862dup (p.Ala955GlnfsTer2)
n.5392_5398dup
c.1869+1170_1869+1176dup (n.1869+1170_1869+1176dup)
c.3024_3030dup (p.Ala1011GlnfsTer2)
c.3036_3042dup (p.Ala1015GlnfsTer2)
c.3009_3015dup (p.Ala1006GlnfsTer2)
c.2955_2961dup (p.Ala988GlnfsTer2)
c.2355_2361dup (p.Ala788GlnfsTer2)
c.3303_3309dup (p.Ala1104GlnfsTer2)
c.3300_3306dup (p.Ala1103GlnfsTer2)
c.3219_3225dup (p.Ala1076GlnfsTer2)
c.3150_3156dup (p.Ala1053GlnfsTer2)
c.3018_3024dup (p.Ala1009GlnfsTer2)
c.2886_2892dup (p.Ala965GlnfsTer2)
 ClinVar dbSNP
20g.32435750G>ACA408562219ASXL1c.3038G>A (p.Ser1013Asn)
c.2855G>A (p.Ser952Asn)
n.5391G>A
c.1869+1169G>A (n.1869+1169G>A)
c.3023G>A (p.Ser1008Asn)
c.3035G>A (p.Ser1012Asn)
c.3008G>A (p.Ser1003Asn)
c.2954G>A (p.Ser985Asn)
c.2354G>A (p.Ser785Asn)
c.3302G>A (p.Ser1101Asn)
c.3299G>A (p.Ser1100Asn)
c.3218G>A (p.Ser1073Asn)
c.3149G>A (p.Ser1050Asn)
c.3017G>A (p.Ser1006Asn)
c.2885G>A (p.Ser962Asn)
 dbSNP
20g.32435750G>CCA408562220ASXL1c.3038G>C (p.Ser1013Thr)
c.2855G>C (p.Ser952Thr)
n.5391G>C
c.1869+1169G>C (n.1869+1169G>C)
c.3023G>C (p.Ser1008Thr)
c.3035G>C (p.Ser1012Thr)
c.3008G>C (p.Ser1003Thr)
c.2954G>C (p.Ser985Thr)
c.2354G>C (p.Ser785Thr)
c.3302G>C (p.Ser1101Thr)
c.3299G>C (p.Ser1100Thr)
c.3218G>C (p.Ser1073Thr)
c.3149G>C (p.Ser1050Thr)
c.3017G>C (p.Ser1006Thr)
c.2885G>C (p.Ser962Thr)
20g.32435750G>TCA408562221ASXL1c.3038G>T (p.Ser1013Ile)
c.2855G>T (p.Ser952Ile)
n.5391G>T
c.1869+1169G>T (n.1869+1169G>T)
c.3023G>T (p.Ser1008Ile)
c.3035G>T (p.Ser1012Ile)
c.3008G>T (p.Ser1003Ile)
c.2954G>T (p.Ser985Ile)
c.2354G>T (p.Ser785Ile)
c.3302G>T (p.Ser1101Ile)
c.3299G>T (p.Ser1100Ile)
c.3218G>T (p.Ser1073Ile)
c.3149G>T (p.Ser1050Ile)
c.3017G>T (p.Ser1006Ile)
c.2885G>T (p.Ser962Ile)
20g.32435750_32435751insGACA2652401058ASXL1c.3038_3039insGA (p.Ser1013ArgfsTer12)
c.2855_2856insGA (p.Ser952ArgfsTer12)
n.5391_5392insGA
c.1869+1169_1869+1170insGA (n.1869+1169_1869+1170insGA)
c.3023_3024insGA (p.Ser1008ArgfsTer12)
c.3035_3036insGA (p.Ser1012ArgfsTer12)
c.3008_3009insGA (p.Ser1003ArgfsTer12)
c.2954_2955insGA (p.Ser985ArgfsTer12)
c.2354_2355insGA (p.Ser785ArgfsTer12)
c.3302_3303insGA (p.Ser1101ArgfsTer12)
c.3299_3300insGA (p.Ser1100ArgfsTer12)
c.3218_3219insGA (p.Ser1073ArgfsTer12)
c.3149_3150insGA (p.Ser1050ArgfsTer12)
c.3017_3018insGA (p.Ser1006ArgfsTer12)
c.2885_2886insGA (p.Ser962ArgfsTer12)
 gnomAD v4
20g.32435751C>ACA408562222ASXL1c.3039C>A (p.Ser1013Arg)
c.2856C>A (p.Ser952Arg)
n.5392C>A
c.1869+1170C>A (n.1869+1170C>A)
c.3024C>A (p.Ser1008Arg)
c.3036C>A (p.Ser1012Arg)
c.3009C>A (p.Ser1003Arg)
c.2955C>A (p.Ser985Arg)
c.2355C>A (p.Ser785Arg)
c.3303C>A (p.Ser1101Arg)
c.3300C>A (p.Ser1100Arg)
c.3219C>A (p.Ser1073Arg)
c.3150C>A (p.Ser1050Arg)
c.3018C>A (p.Ser1006Arg)
c.2886C>A (p.Ser962Arg)
 dbSNP
20g.32435751C=CA2360293394ASXL1c.3039C= (p.Ser1013=)
c.2856C= (p.Ser952=)
n.5392C=
c.1869+1170C= (n.1869+1170C=)
c.3024C= (p.Ser1008=)
c.3036C= (p.Ser1012=)
c.3009C= (p.Ser1003=)
c.2955C= (p.Ser985=)
c.2355C= (p.Ser785=)
c.3303C= (p.Ser1101=)
c.3300C= (p.Ser1100=)
c.3219C= (p.Ser1073=)
c.3150C= (p.Ser1050=)
c.3018C= (p.Ser1006=)
c.2886C= (p.Ser962=)
20g.32435751C>GCA408562223ASXL1c.3039C>G (p.Ser1013Arg)
c.2856C>G (p.Ser952Arg)
n.5392C>G
c.1869+1170C>G (n.1869+1170C>G)
c.3024C>G (p.Ser1008Arg)
c.3036C>G (p.Ser1012Arg)
c.3009C>G (p.Ser1003Arg)
c.2955C>G (p.Ser985Arg)
c.2355C>G (p.Ser785Arg)
c.3303C>G (p.Ser1101Arg)
c.3300C>G (p.Ser1100Arg)
c.3219C>G (p.Ser1073Arg)
c.3150C>G (p.Ser1050Arg)
c.3018C>G (p.Ser1006Arg)
c.2886C>G (p.Ser962Arg)
20g.32435751C>TCA510466675ASXL1c.3039C>T (p.Ser1013=)
c.2856C>T (p.Ser952=)
n.5392C>T
c.1869+1170C>T (n.1869+1170C>T)
c.3024C>T (p.Ser1008=)
c.3036C>T (p.Ser1012=)
c.3009C>T (p.Ser1003=)
c.2955C>T (p.Ser985=)
c.2355C>T (p.Ser785=)
c.3303C>T (p.Ser1101=)
c.3300C>T (p.Ser1100=)
c.3219C>T (p.Ser1073=)
c.3150C>T (p.Ser1050=)
c.3018C>T (p.Ser1006=)
c.2886C>T (p.Ser962=)
 dbSNP gnomAD v4
20g.32435752A=CA2360293395ASXL1c.3040A= (p.Ser1014=)
c.2857A= (p.Ser953=)
n.5393A=
c.1869+1171A= (n.1869+1171A=)
c.3025A= (p.Ser1009=)
c.3037A= (p.Ser1013=)
c.3010A= (p.Ser1004=)
c.2956A= (p.Ser986=)
c.2356A= (p.Ser786=)
c.3304A= (p.Ser1102=)
c.3301A= (p.Ser1101=)
c.3220A= (p.Ser1074=)
c.3151A= (p.Ser1051=)
c.3019A= (p.Ser1007=)
c.2887A= (p.Ser963=)
20g.32435752A>CCA408562224ASXL1c.3040A>C (p.Ser1014Arg)
c.2857A>C (p.Ser953Arg)
n.5393A>C
c.1869+1171A>C (n.1869+1171A>C)
c.3025A>C (p.Ser1009Arg)
c.3037A>C (p.Ser1013Arg)
c.3010A>C (p.Ser1004Arg)
c.2956A>C (p.Ser986Arg)
c.2356A>C (p.Ser786Arg)
c.3304A>C (p.Ser1102Arg)
c.3301A>C (p.Ser1101Arg)
c.3220A>C (p.Ser1074Arg)
c.3151A>C (p.Ser1051Arg)
c.3019A>C (p.Ser1007Arg)
c.2887A>C (p.Ser963Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.32435752A>GCA408562225ASXL1c.3040A>G (p.Ser1014Gly)
c.2857A>G (p.Ser953Gly)
n.5393A>G
c.1869+1171A>G (n.1869+1171A>G)
c.3025A>G (p.Ser1009Gly)
c.3037A>G (p.Ser1013Gly)
c.3010A>G (p.Ser1004Gly)
c.2956A>G (p.Ser986Gly)
c.2356A>G (p.Ser786Gly)
c.3304A>G (p.Ser1102Gly)
c.3301A>G (p.Ser1101Gly)
c.3220A>G (p.Ser1074Gly)
c.3151A>G (p.Ser1051Gly)
c.3019A>G (p.Ser1007Gly)
c.2887A>G (p.Ser963Gly)
20g.32435752A>TCA408562226ASXL1c.3040A>T (p.Ser1014Cys)
c.2857A>T (p.Ser953Cys)
n.5393A>T
c.1869+1171A>T (n.1869+1171A>T)
c.3025A>T (p.Ser1009Cys)
c.3037A>T (p.Ser1013Cys)
c.3010A>T (p.Ser1004Cys)
c.2956A>T (p.Ser986Cys)
c.2356A>T (p.Ser786Cys)
c.3304A>T (p.Ser1102Cys)
c.3301A>T (p.Ser1101Cys)
c.3220A>T (p.Ser1074Cys)
c.3151A>T (p.Ser1051Cys)
c.3019A>T (p.Ser1007Cys)
c.2887A>T (p.Ser963Cys)
20g.32435752_32435754dupCA2652401059ASXL1c.3040_3042dup (p.Ser1014_Glu1015insSer)
c.2857_2859dup (p.Ser953_Glu954insSer)
n.5393_5395dup
c.1869+1171_1869+1173dup (n.1869+1171_1869+1173dup)
c.3025_3027dup (p.Ser1009_Glu1010insSer)
c.3037_3039dup (p.Ser1013_Glu1014insSer)
c.3010_3012dup (p.Ser1004_Glu1005insSer)
c.2956_2958dup (p.Ser986_Glu987insSer)
c.2356_2358dup (p.Ser786_Glu787insSer)
c.3304_3306dup (p.Ser1102_Glu1103insSer)
c.3301_3303dup (p.Ser1101_Glu1102insSer)
c.3220_3222dup (p.Ser1074_Glu1075insSer)
c.3151_3153dup (p.Ser1051_Glu1052insSer)
c.3019_3021dup (p.Ser1007_Glu1008insSer)
c.2887_2889dup (p.Ser963_Glu964insSer)
 gnomAD v4
20g.32435753G>ACA408562227ASXL1c.3041G>A (p.Ser1014Asn)
c.2858G>A (p.Ser953Asn)
n.5394G>A
c.1869+1172G>A (n.1869+1172G>A)
c.3026G>A (p.Ser1009Asn)
c.3038G>A (p.Ser1013Asn)
c.3011G>A (p.Ser1004Asn)
c.2957G>A (p.Ser986Asn)
c.2357G>A (p.Ser786Asn)
c.3305G>A (p.Ser1102Asn)
c.3302G>A (p.Ser1101Asn)
c.3221G>A (p.Ser1074Asn)
c.3152G>A (p.Ser1051Asn)
c.3020G>A (p.Ser1007Asn)
c.2888G>A (p.Ser963Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32435753G>CCA9808748ASXL1c.3041G>C (p.Ser1014Thr)
c.2858G>C (p.Ser953Thr)
n.5394G>C
c.1869+1172G>C (n.1869+1172G>C)
c.3026G>C (p.Ser1009Thr)
c.3038G>C (p.Ser1013Thr)
c.3011G>C (p.Ser1004Thr)
c.2957G>C (p.Ser986Thr)
c.2357G>C (p.Ser786Thr)
c.3305G>C (p.Ser1102Thr)
c.3302G>C (p.Ser1101Thr)
c.3221G>C (p.Ser1074Thr)
c.3152G>C (p.Ser1051Thr)
c.3020G>C (p.Ser1007Thr)
c.2888G>C (p.Ser963Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435753G=CA2360293396ASXL1c.3041G= (p.Ser1014=)
c.2858G= (p.Ser953=)
n.5394G=
c.1869+1172G= (n.1869+1172G=)
c.3026G= (p.Ser1009=)
c.3038G= (p.Ser1013=)
c.3011G= (p.Ser1004=)
c.2957G= (p.Ser986=)
c.2357G= (p.Ser786=)
c.3305G= (p.Ser1102=)
c.3302G= (p.Ser1101=)
c.3221G= (p.Ser1074=)
c.3152G= (p.Ser1051=)
c.3020G= (p.Ser1007=)
c.2888G= (p.Ser963=)
20g.32435753G>TCA408562228ASXL1c.3041G>T (p.Ser1014Ile)
c.2858G>T (p.Ser953Ile)
n.5394G>T
c.1869+1172G>T (n.1869+1172G>T)
c.3026G>T (p.Ser1009Ile)
c.3038G>T (p.Ser1013Ile)
c.3011G>T (p.Ser1004Ile)
c.2957G>T (p.Ser986Ile)
c.2357G>T (p.Ser786Ile)
c.3305G>T (p.Ser1102Ile)
c.3302G>T (p.Ser1101Ile)
c.3221G>T (p.Ser1074Ile)
c.3152G>T (p.Ser1051Ile)
c.3020G>T (p.Ser1007Ile)
c.2888G>T (p.Ser963Ile)
20g.32435754T>ACA408562230ASXL1c.3042T>A (p.Ser1014Arg)
c.2859T>A (p.Ser953Arg)
n.5395T>A
c.1869+1173T>A (n.1869+1173T>A)
c.3027T>A (p.Ser1009Arg)
c.3039T>A (p.Ser1013Arg)
c.3012T>A (p.Ser1004Arg)
c.2958T>A (p.Ser986Arg)
c.2358T>A (p.Ser786Arg)
c.3306T>A (p.Ser1102Arg)
c.3303T>A (p.Ser1101Arg)
c.3222T>A (p.Ser1074Arg)
c.3153T>A (p.Ser1051Arg)
c.3021T>A (p.Ser1007Arg)
c.2889T>A (p.Ser963Arg)
20g.32435754T>CCA9808749ASXL1c.3042T>C (p.Ser1014=)
c.2859T>C (p.Ser953=)
n.5395T>C
c.1869+1173T>C (n.1869+1173T>C)
c.3027T>C (p.Ser1009=)
c.3039T>C (p.Ser1013=)
c.3012T>C (p.Ser1004=)
c.2958T>C (p.Ser986=)
c.2358T>C (p.Ser786=)
c.3306T>C (p.Ser1102=)
c.3303T>C (p.Ser1101=)
c.3222T>C (p.Ser1074=)
c.3153T>C (p.Ser1051=)
c.3021T>C (p.Ser1007=)
c.2889T>C (p.Ser963=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435754T>GCA408562229ASXL1c.3042T>G (p.Ser1014Arg)
c.2859T>G (p.Ser953Arg)
n.5395T>G
c.1869+1173T>G (n.1869+1173T>G)
c.3027T>G (p.Ser1009Arg)
c.3039T>G (p.Ser1013Arg)
c.3012T>G (p.Ser1004Arg)
c.2958T>G (p.Ser986Arg)
c.2358T>G (p.Ser786Arg)
c.3306T>G (p.Ser1102Arg)
c.3303T>G (p.Ser1101Arg)
c.3222T>G (p.Ser1074Arg)
c.3153T>G (p.Ser1051Arg)
c.3021T>G (p.Ser1007Arg)
c.2889T>G (p.Ser963Arg)
20g.32435754T=CA2360293397ASXL1c.3042T= (p.Ser1014=)
c.2859T= (p.Ser953=)
n.5395T=
c.1869+1173T= (n.1869+1173T=)
c.3027T= (p.Ser1009=)
c.3039T= (p.Ser1013=)
c.3012T= (p.Ser1004=)
c.2958T= (p.Ser986=)
c.2358T= (p.Ser786=)
c.3306T= (p.Ser1102=)
c.3303T= (p.Ser1101=)
c.3222T= (p.Ser1074=)
c.3153T= (p.Ser1051=)
c.3021T= (p.Ser1007=)
c.2889T= (p.Ser963=)
20g.32435755G>ACA408562231ASXL1c.3043G>A (p.Glu1015Lys)
c.2860G>A (p.Glu954Lys)
n.5396G>A
c.1869+1174G>A (n.1869+1174G>A)
c.3028G>A (p.Glu1010Lys)
c.3040G>A (p.Glu1014Lys)
c.3013G>A (p.Glu1005Lys)
c.2959G>A (p.Glu987Lys)
c.2359G>A (p.Glu787Lys)
c.3307G>A (p.Glu1103Lys)
c.3304G>A (p.Glu1102Lys)
c.3223G>A (p.Glu1075Lys)
c.3154G>A (p.Glu1052Lys)
c.3022G>A (p.Glu1008Lys)
c.2890G>A (p.Glu964Lys)
20g.32435755G>CCA408562232ASXL1c.3043G>C (p.Glu1015Gln)
c.2860G>C (p.Glu954Gln)
n.5396G>C
c.1869+1174G>C (n.1869+1174G>C)
c.3028G>C (p.Glu1010Gln)
c.3040G>C (p.Glu1014Gln)
c.3013G>C (p.Glu1005Gln)
c.2959G>C (p.Glu987Gln)
c.2359G>C (p.Glu787Gln)
c.3307G>C (p.Glu1103Gln)
c.3304G>C (p.Glu1102Gln)
c.3223G>C (p.Glu1075Gln)
c.3154G>C (p.Glu1052Gln)
c.3022G>C (p.Glu1008Gln)
c.2890G>C (p.Glu964Gln)
20g.32435755G>TCA408562233ASXL1c.3043G>T (p.Glu1015Ter)
c.2860G>T (p.Glu954Ter)
n.5396G>T
c.1869+1174G>T (n.1869+1174G>T)
c.3028G>T (p.Glu1010Ter)
c.3040G>T (p.Glu1014Ter)
c.3013G>T (p.Glu1005Ter)
c.2959G>T (p.Glu987Ter)
c.2359G>T (p.Glu787Ter)
c.3307G>T (p.Glu1103Ter)
c.3304G>T (p.Glu1102Ter)
c.3223G>T (p.Glu1075Ter)
c.3154G>T (p.Glu1052Ter)
c.3022G>T (p.Glu1008Ter)
c.2890G>T (p.Glu964Ter)
20g.32435756A=CA2360293398ASXL1c.3044A= (p.Glu1015=)
c.2861A= (p.Glu954=)
n.5397A=
c.1869+1175A= (n.1869+1175A=)
c.3029A= (p.Glu1010=)
c.3041A= (p.Glu1014=)
c.3014A= (p.Glu1005=)
c.2960A= (p.Glu987=)
c.2360A= (p.Glu787=)
c.3308A= (p.Glu1103=)
c.3305A= (p.Glu1102=)
c.3224A= (p.Glu1075=)
c.3155A= (p.Glu1052=)
c.3023A= (p.Glu1008=)
c.2891A= (p.Glu964=)
20g.32435756A>CCA408562234ASXL1c.3044A>C (p.Glu1015Ala)
c.2861A>C (p.Glu954Ala)
n.5397A>C
c.1869+1175A>C (n.1869+1175A>C)
c.3029A>C (p.Glu1010Ala)
c.3041A>C (p.Glu1014Ala)
c.3014A>C (p.Glu1005Ala)
c.2960A>C (p.Glu987Ala)
c.2360A>C (p.Glu787Ala)
c.3308A>C (p.Glu1103Ala)
c.3305A>C (p.Glu1102Ala)
c.3224A>C (p.Glu1075Ala)
c.3155A>C (p.Glu1052Ala)
c.3023A>C (p.Glu1008Ala)
c.2891A>C (p.Glu964Ala)
20g.32435756A>GCA9808750ASXL1c.3044A>G (p.Glu1015Gly)
c.2861A>G (p.Glu954Gly)
n.5397A>G
c.1869+1175A>G (n.1869+1175A>G)
c.3029A>G (p.Glu1010Gly)
c.3041A>G (p.Glu1014Gly)
c.3014A>G (p.Glu1005Gly)
c.2960A>G (p.Glu987Gly)
c.2360A>G (p.Glu787Gly)
c.3308A>G (p.Glu1103Gly)
c.3305A>G (p.Glu1102Gly)
c.3224A>G (p.Glu1075Gly)
c.3155A>G (p.Glu1052Gly)
c.3023A>G (p.Glu1008Gly)
c.2891A>G (p.Glu964Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.32435756A>TCA408562235ASXL1c.3044A>T (p.Glu1015Val)
c.2861A>T (p.Glu954Val)
n.5397A>T
c.1869+1175A>T (n.1869+1175A>T)
c.3029A>T (p.Glu1010Val)
c.3041A>T (p.Glu1014Val)
c.3014A>T (p.Glu1005Val)
c.2960A>T (p.Glu987Val)
c.2360A>T (p.Glu787Val)
c.3308A>T (p.Glu1103Val)
c.3305A>T (p.Glu1102Val)
c.3224A>T (p.Glu1075Val)
c.3155A>T (p.Glu1052Val)
c.3023A>T (p.Glu1008Val)
c.2891A>T (p.Glu964Val)
20g.32435757G>ACA510466689ASXL1c.3045G>A (p.Glu1015=)
c.2862G>A (p.Glu954=)
n.5398G>A
c.1869+1176G>A (n.1869+1176G>A)
c.3030G>A (p.Glu1010=)
c.3042G>A (p.Glu1014=)
c.3015G>A (p.Glu1005=)
c.2961G>A (p.Glu987=)
c.2361G>A (p.Glu787=)
c.3309G>A (p.Glu1103=)
c.3306G>A (p.Glu1102=)
c.3225G>A (p.Glu1075=)
c.3156G>A (p.Glu1052=)
c.3024G>A (p.Glu1008=)
c.2892G>A (p.Glu964=)
20g.32435757G>CCA408562236ASXL1c.3045G>C (p.Glu1015Asp)
c.2862G>C (p.Glu954Asp)
n.5398G>C
c.1869+1176G>C (n.1869+1176G>C)
c.3030G>C (p.Glu1010Asp)
c.3042G>C (p.Glu1014Asp)
c.3015G>C (p.Glu1005Asp)
c.2961G>C (p.Glu987Asp)
c.2361G>C (p.Glu787Asp)
c.3309G>C (p.Glu1103Asp)
c.3306G>C (p.Glu1102Asp)
c.3225G>C (p.Glu1075Asp)
c.3156G>C (p.Glu1052Asp)
c.3024G>C (p.Glu1008Asp)
c.2892G>C (p.Glu964Asp)
20g.32435757G>TCA408562237ASXL1c.3045G>T (p.Glu1015Asp)
c.2862G>T (p.Glu954Asp)
n.5398G>T
c.1869+1176G>T (n.1869+1176G>T)
c.3030G>T (p.Glu1010Asp)
c.3042G>T (p.Glu1014Asp)
c.3015G>T (p.Glu1005Asp)
c.2961G>T (p.Glu987Asp)
c.2361G>T (p.Glu787Asp)
c.3309G>T (p.Glu1103Asp)
c.3306G>T (p.Glu1102Asp)
c.3225G>T (p.Glu1075Asp)
c.3156G>T (p.Glu1052Asp)
c.3024G>T (p.Glu1008Asp)
c.2892G>T (p.Glu964Asp)
20g.32435758G>ACA408562238ASXL1c.3046G>A (p.Ala1016Thr)
c.2863G>A (p.Ala955Thr)
n.5399G>A
c.1869+1177G>A (n.1869+1177G>A)
c.3031G>A (p.Ala1011Thr)
c.3043G>A (p.Ala1015Thr)
c.3016G>A (p.Ala1006Thr)
c.2962G>A (p.Ala988Thr)
c.2362G>A (p.Ala788Thr)
c.3310G>A (p.Ala1104Thr)
c.3307G>A (p.Ala1103Thr)
c.3226G>A (p.Ala1076Thr)
c.3157G>A (p.Ala1053Thr)
c.3025G>A (p.Ala1009Thr)
c.2893G>A (p.Ala965Thr)
 dbSNP
20g.32435758G>CCA408562239ASXL1c.3046G>C (p.Ala1016Pro)
c.2863G>C (p.Ala955Pro)
n.5399G>C
c.1869+1177G>C (n.1869+1177G>C)
c.3031G>C (p.Ala1011Pro)
c.3043G>C (p.Ala1015Pro)
c.3016G>C (p.Ala1006Pro)
c.2962G>C (p.Ala988Pro)
c.2362G>C (p.Ala788Pro)
c.3310G>C (p.Ala1104Pro)
c.3307G>C (p.Ala1103Pro)
c.3226G>C (p.Ala1076Pro)
c.3157G>C (p.Ala1053Pro)
c.3025G>C (p.Ala1009Pro)
c.2893G>C (p.Ala965Pro)
 dbSNP
20g.32435758G>TCA408562240ASXL1c.3046G>T (p.Ala1016Ser)
c.2863G>T (p.Ala955Ser)
n.5399G>T
c.1869+1177G>T (n.1869+1177G>T)
c.3031G>T (p.Ala1011Ser)
c.3043G>T (p.Ala1015Ser)
c.3016G>T (p.Ala1006Ser)
c.2962G>T (p.Ala988Ser)
c.2362G>T (p.Ala788Ser)
c.3310G>T (p.Ala1104Ser)
c.3307G>T (p.Ala1103Ser)
c.3226G>T (p.Ala1076Ser)
c.3157G>T (p.Ala1053Ser)
c.3025G>T (p.Ala1009Ser)
c.2893G>T (p.Ala965Ser)
 dbSNP
20g.32435759C>ACA408562241ASXL1c.3047C>A (p.Ala1016Asp)
c.2864C>A (p.Ala955Asp)
n.5400C>A
c.1869+1178C>A (n.1869+1178C>A)
c.3032C>A (p.Ala1011Asp)
c.3044C>A (p.Ala1015Asp)
c.3017C>A (p.Ala1006Asp)
c.2963C>A (p.Ala988Asp)
c.2363C>A (p.Ala788Asp)
c.3311C>A (p.Ala1104Asp)
c.3308C>A (p.Ala1103Asp)
c.3227C>A (p.Ala1076Asp)
c.3158C>A (p.Ala1053Asp)
c.3026C>A (p.Ala1009Asp)
c.2894C>A (p.Ala965Asp)
20g.32435759C=CA2360293399ASXL1c.3047C= (p.Ala1016=)
c.2864C= (p.Ala955=)
n.5400C=
c.1869+1178C= (n.1869+1178C=)
c.3032C= (p.Ala1011=)
c.3044C= (p.Ala1015=)
c.3017C= (p.Ala1006=)
c.2963C= (p.Ala988=)
c.2363C= (p.Ala788=)
c.3311C= (p.Ala1104=)
c.3308C= (p.Ala1103=)
c.3227C= (p.Ala1076=)
c.3158C= (p.Ala1053=)
c.3026C= (p.Ala1009=)
c.2894C= (p.Ala965=)
20g.32435759C>GCA408562242ASXL1c.3047C>G (p.Ala1016Gly)
c.2864C>G (p.Ala955Gly)
n.5400C>G
c.1869+1178C>G (n.1869+1178C>G)
c.3032C>G (p.Ala1011Gly)
c.3044C>G (p.Ala1015Gly)
c.3017C>G (p.Ala1006Gly)
c.2963C>G (p.Ala988Gly)
c.2363C>G (p.Ala788Gly)
c.3311C>G (p.Ala1104Gly)
c.3308C>G (p.Ala1103Gly)
c.3227C>G (p.Ala1076Gly)
c.3158C>G (p.Ala1053Gly)
c.3026C>G (p.Ala1009Gly)
c.2894C>G (p.Ala965Gly)
20g.32435759C>TCA408562243ASXL1c.3047C>T (p.Ala1016Val)
c.2864C>T (p.Ala955Val)
n.5400C>T
c.1869+1178C>T (n.1869+1178C>T)
c.3032C>T (p.Ala1011Val)
c.3044C>T (p.Ala1015Val)
c.3017C>T (p.Ala1006Val)
c.2963C>T (p.Ala988Val)
c.2363C>T (p.Ala788Val)
c.3311C>T (p.Ala1104Val)
c.3308C>T (p.Ala1103Val)
c.3227C>T (p.Ala1076Val)
c.3158C>T (p.Ala1053Val)
c.3026C>T (p.Ala1009Val)
c.2894C>T (p.Ala965Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32435760T>ACA510466693ASXL1c.3048T>A (p.Ala1016=)
c.2865T>A (p.Ala955=)
n.5401T>A
c.1869+1179T>A (n.1869+1179T>A)
c.3033T>A (p.Ala1011=)
c.3045T>A (p.Ala1015=)
c.3018T>A (p.Ala1006=)
c.2964T>A (p.Ala988=)
c.2364T>A (p.Ala788=)
c.3312T>A (p.Ala1104=)
c.3309T>A (p.Ala1103=)
c.3228T>A (p.Ala1076=)
c.3159T>A (p.Ala1053=)
c.3027T>A (p.Ala1009=)
c.2895T>A (p.Ala965=)
20g.32435760T>CCA510466694ASXL1c.3048T>C (p.Ala1016=)
c.2865T>C (p.Ala955=)
n.5401T>C
c.1869+1179T>C (n.1869+1179T>C)
c.3033T>C (p.Ala1011=)
c.3045T>C (p.Ala1015=)
c.3018T>C (p.Ala1006=)
c.2964T>C (p.Ala988=)
c.2364T>C (p.Ala788=)
c.3312T>C (p.Ala1104=)
c.3309T>C (p.Ala1103=)
c.3228T>C (p.Ala1076=)
c.3159T>C (p.Ala1053=)
c.3027T>C (p.Ala1009=)
c.2895T>C (p.Ala965=)
 COSMIC COSMIC
20g.32435760T>GCA510466695ASXL1c.3048T>G (p.Ala1016=)
c.2865T>G (p.Ala955=)
n.5401T>G
c.1869+1179T>G (n.1869+1179T>G)
c.3033T>G (p.Ala1011=)
c.3045T>G (p.Ala1015=)
c.3018T>G (p.Ala1006=)
c.2964T>G (p.Ala988=)
c.2364T>G (p.Ala788=)
c.3312T>G (p.Ala1104=)
c.3309T>G (p.Ala1103=)
c.3228T>G (p.Ala1076=)
c.3159T>G (p.Ala1053=)
c.3027T>G (p.Ala1009=)
c.2895T>G (p.Ala965=)
20g.32435761G>ACA408562246ASXL1c.3049G>A (p.Asp1017Asn)
c.2866G>A (p.Asp956Asn)
n.5402G>A
c.1869+1180G>A (n.1869+1180G>A)
c.3034G>A (p.Asp1012Asn)
c.3046G>A (p.Asp1016Asn)
c.3019G>A (p.Asp1007Asn)
c.2965G>A (p.Asp989Asn)
c.2365G>A (p.Asp789Asn)
c.3313G>A (p.Asp1105Asn)
c.3310G>A (p.Asp1104Asn)
c.3229G>A (p.Asp1077Asn)
c.3160G>A (p.Asp1054Asn)
c.3028G>A (p.Asp1010Asn)
c.2896G>A (p.Asp966Asn)
20g.32435761G>CCA408562245ASXL1c.3049G>C (p.Asp1017His)
c.2866G>C (p.Asp956His)
n.5402G>C
c.1869+1180G>C (n.1869+1180G>C)
c.3034G>C (p.Asp1012His)
c.3046G>C (p.Asp1016His)
c.3019G>C (p.Asp1007His)
c.2965G>C (p.Asp989His)
c.2365G>C (p.Asp789His)
c.3313G>C (p.Asp1105His)
c.3310G>C (p.Asp1104His)
c.3229G>C (p.Asp1077His)
c.3160G>C (p.Asp1054His)
c.3028G>C (p.Asp1010His)
c.2896G>C (p.Asp966His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32435761G=CA2360293400ASXL1c.3049G= (p.Asp1017=)
c.2866G= (p.Asp956=)
n.5402G=
c.1869+1180G= (n.1869+1180G=)
c.3034G= (p.Asp1012=)
c.3046G= (p.Asp1016=)
c.3019G= (p.Asp1007=)
c.2965G= (p.Asp989=)
c.2365G= (p.Asp789=)
c.3313G= (p.Asp1105=)
c.3310G= (p.Asp1104=)
c.3229G= (p.Asp1077=)
c.3160G= (p.Asp1054=)
c.3028G= (p.Asp1010=)
c.2896G= (p.Asp966=)
20g.32435761G>TCA408562244ASXL1c.3049G>T (p.Asp1017Tyr)
c.2866G>T (p.Asp956Tyr)
n.5402G>T
c.1869+1180G>T (n.1869+1180G>T)
c.3034G>T (p.Asp1012Tyr)
c.3046G>T (p.Asp1016Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2965G>T (p.Asp989Tyr)
c.2365G>T (p.Asp789Tyr)
c.3313G>T (p.Asp1105Tyr)
c.3310G>T (p.Asp1104Tyr)
c.3229G>T (p.Asp1077Tyr)
c.3160G>T (p.Asp1054Tyr)
c.3028G>T (p.Asp1010Tyr)
c.2896G>T (p.Asp966Tyr)
20g.32435761_32435762insGTCA2652401060ASXL1c.3049_3050insGT (p.Asp1017GlyfsTer8)
c.2866_2867insGT (p.Asp956GlyfsTer8)
n.5402_5403insGT
c.1869+1180_1869+1181insGT (n.1869+1180_1869+1181insGT)
c.3034_3035insGT (p.Asp1012GlyfsTer8)
c.3046_3047insGT (p.Asp1016GlyfsTer8)
c.3019_3020insGT (p.Asp1007GlyfsTer8)
c.2965_2966insGT (p.Asp989GlyfsTer8)
c.2365_2366insGT (p.Asp789GlyfsTer8)
c.3313_3314insGT (p.Asp1105GlyfsTer8)
c.3310_3311insGT (p.Asp1104GlyfsTer8)
c.3229_3230insGT (p.Asp1077GlyfsTer8)
c.3160_3161insGT (p.Asp1054GlyfsTer8)
c.3028_3029insGT (p.Asp1010GlyfsTer8)
c.2896_2897insGT (p.Asp966GlyfsTer8)
 gnomAD v4
20g.32435762A=CA2360293401ASXL1c.3050A= (p.Asp1017=)
c.2867A= (p.Asp956=)
n.5403A=
c.1869+1181A= (n.1869+1181A=)
c.3035A= (p.Asp1012=)
c.3047A= (p.Asp1016=)
c.3020A= (p.Asp1007=)
c.2966A= (p.Asp989=)
c.2366A= (p.Asp789=)
c.3314A= (p.Asp1105=)
c.3311A= (p.Asp1104=)
c.3230A= (p.Asp1077=)
c.3161A= (p.Asp1054=)
c.3029A= (p.Asp1010=)
c.2897A= (p.Asp966=)
20g.32435762A>CCA9808751ASXL1c.3050A>C (p.Asp1017Ala)
c.2867A>C (p.Asp956Ala)
n.5403A>C
c.1869+1181A>C (n.1869+1181A>C)
c.3035A>C (p.Asp1012Ala)
c.3047A>C (p.Asp1016Ala)
c.3020A>C (p.Asp1007Ala)
c.2966A>C (p.Asp989Ala)
c.2366A>C (p.Asp789Ala)
c.3314A>C (p.Asp1105Ala)
c.3311A>C (p.Asp1104Ala)
c.3230A>C (p.Asp1077Ala)
c.3161A>C (p.Asp1054Ala)
c.3029A>C (p.Asp1010Ala)
c.2897A>C (p.Asp966Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32435762A>GCA408562247ASXL1c.3050A>G (p.Asp1017Gly)
c.2867A>G (p.Asp956Gly)
n.5403A>G
c.1869+1181A>G (n.1869+1181A>G)
c.3035A>G (p.Asp1012Gly)
c.3047A>G (p.Asp1016Gly)
c.3020A>G (p.Asp1007Gly)
c.2966A>G (p.Asp989Gly)
c.2366A>G (p.Asp789Gly)
c.3314A>G (p.Asp1105Gly)
c.3311A>G (p.Asp1104Gly)
c.3230A>G (p.Asp1077Gly)
c.3161A>G (p.Asp1054Gly)
c.3029A>G (p.Asp1010Gly)
c.2897A>G (p.Asp966Gly)
20g.32435762A>TCA408562248ASXL1c.3050A>T (p.Asp1017Val)
c.2867A>T (p.Asp956Val)
n.5403A>T
c.1869+1181A>T (n.1869+1181A>T)
c.3035A>T (p.Asp1012Val)
c.3047A>T (p.Asp1016Val)
c.3020A>T (p.Asp1007Val)
c.2966A>T (p.Asp989Val)
c.2366A>T (p.Asp789Val)
c.3314A>T (p.Asp1105Val)
c.3311A>T (p.Asp1104Val)
c.3230A>T (p.Asp1077Val)
c.3161A>T (p.Asp1054Val)
c.3029A>T (p.Asp1010Val)
c.2897A>T (p.Asp966Val)
20g.32435763C>ACA408562249ASXL1c.3051C>A (p.Asp1017Glu)
c.2868C>A (p.Asp956Glu)
n.5404C>A
c.1869+1182C>A (n.1869+1182C>A)
c.3036C>A (p.Asp1012Glu)
c.3048C>A (p.Asp1016Glu)
c.3021C>A (p.Asp1007Glu)
c.2967C>A (p.Asp989Glu)
c.2367C>A (p.Asp789Glu)
c.3315C>A (p.Asp1105Glu)
c.3312C>A (p.Asp1104Glu)
c.3231C>A (p.Asp1077Glu)
c.3162C>A (p.Asp1054Glu)
c.3030C>A (p.Asp1010Glu)
c.2898C>A (p.Asp966Glu)
20g.32435763C>GCA408562250ASXL1c.3051C>G (p.Asp1017Glu)
c.2868C>G (p.Asp956Glu)
n.5404C>G
c.1869+1182C>G (n.1869+1182C>G)
c.3036C>G (p.Asp1012Glu)
c.3048C>G (p.Asp1016Glu)
c.3021C>G (p.Asp1007Glu)
c.2967C>G (p.Asp989Glu)
c.2367C>G (p.Asp789Glu)
c.3315C>G (p.Asp1105Glu)
c.3312C>G (p.Asp1104Glu)
c.3231C>G (p.Asp1077Glu)
c.3162C>G (p.Asp1054Glu)
c.3030C>G (p.Asp1010Glu)
c.2898C>G (p.Asp966Glu)
20g.32435763C>TCA510466700ASXL1c.3051C>T (p.Asp1017=)
c.2868C>T (p.Asp956=)
n.5404C>T
c.1869+1182C>T (n.1869+1182C>T)
c.3036C>T (p.Asp1012=)
c.3048C>T (p.Asp1016=)
c.3021C>T (p.Asp1007=)
c.2967C>T (p.Asp989=)
c.2367C>T (p.Asp789=)
c.3315C>T (p.Asp1105=)
c.3312C>T (p.Asp1104=)
c.3231C>T (p.Asp1077=)
c.3162C>T (p.Asp1054=)
c.3030C>T (p.Asp1010=)
c.2898C>T (p.Asp966=)
 gnomAD v4
20g.32435764A=CA2360293402ASXL1c.3052A= (p.Thr1018=)
c.2869A= (p.Thr957=)
n.5405A=
c.1869+1183A= (n.1869+1183A=)
c.3037A= (p.Thr1013=)
c.3049A= (p.Thr1017=)
c.3022A= (p.Thr1008=)
c.2968A= (p.Thr990=)
c.2368A= (p.Thr790=)
c.3316A= (p.Thr1106=)
c.3313A= (p.Thr1105=)
c.3232A= (p.Thr1078=)
c.3163A= (p.Thr1055=)
c.3031A= (p.Thr1011=)
c.2899A= (p.Thr967=)
20g.32435764A>CCA9808752ASXL1c.3052A>C (p.Thr1018Pro)
c.2869A>C (p.Thr957Pro)
n.5405A>C
c.1869+1183A>C (n.1869+1183A>C)
c.3037A>C (p.Thr1013Pro)
c.3049A>C (p.Thr1017Pro)
c.3022A>C (p.Thr1008Pro)
c.2968A>C (p.Thr990Pro)
c.2368A>C (p.Thr790Pro)
c.3316A>C (p.Thr1106Pro)
c.3313A>C (p.Thr1105Pro)
c.3232A>C (p.Thr1078Pro)
c.3163A>C (p.Thr1055Pro)
c.3031A>C (p.Thr1011Pro)
c.2899A>C (p.Thr967Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32435764A>GCA408562251ASXL1c.3052A>G (p.Thr1018Ala)
c.2869A>G (p.Thr957Ala)
n.5405A>G
c.1869+1183A>G (n.1869+1183A>G)
c.3037A>G (p.Thr1013Ala)
c.3049A>G (p.Thr1017Ala)
c.3022A>G (p.Thr1008Ala)
c.2968A>G (p.Thr990Ala)
c.2368A>G (p.Thr790Ala)
c.3316A>G (p.Thr1106Ala)
c.3313A>G (p.Thr1105Ala)
c.3232A>G (p.Thr1078Ala)
c.3163A>G (p.Thr1055Ala)
c.3031A>G (p.Thr1011Ala)
c.2899A>G (p.Thr967Ala)
 gnomAD v4
20g.32435764A>TCA9808753ASXL1c.3052A>T (p.Thr1018Ser)
c.2869A>T (p.Thr957Ser)
n.5405A>T
c.1869+1183A>T (n.1869+1183A>T)
c.3037A>T (p.Thr1013Ser)
c.3049A>T (p.Thr1017Ser)
c.3022A>T (p.Thr1008Ser)
c.2968A>T (p.Thr990Ser)
c.2368A>T (p.Thr790Ser)
c.3316A>T (p.Thr1106Ser)
c.3313A>T (p.Thr1105Ser)
c.3232A>T (p.Thr1078Ser)
c.3163A>T (p.Thr1055Ser)
c.3031A>T (p.Thr1011Ser)
c.2899A>T (p.Thr967Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435765C>ACA408562252ASXL1c.3053C>A (p.Thr1018Asn)
c.2870C>A (p.Thr957Asn)
n.5406C>A
c.1869+1184C>A (n.1869+1184C>A)
c.3038C>A (p.Thr1013Asn)
c.3050C>A (p.Thr1017Asn)
c.3023C>A (p.Thr1008Asn)
c.2969C>A (p.Thr990Asn)
c.2369C>A (p.Thr790Asn)
c.3317C>A (p.Thr1106Asn)
c.3314C>A (p.Thr1105Asn)
c.3233C>A (p.Thr1078Asn)
c.3164C>A (p.Thr1055Asn)
c.3032C>A (p.Thr1011Asn)
c.2900C>A (p.Thr967Asn)
20g.32435765C=CA2360293403ASXL1c.3053C= (p.Thr1018=)
c.2870C= (p.Thr957=)
n.5406C=
c.1869+1184C= (n.1869+1184C=)
c.3038C= (p.Thr1013=)
c.3050C= (p.Thr1017=)
c.3023C= (p.Thr1008=)
c.2969C= (p.Thr990=)
c.2369C= (p.Thr790=)
c.3317C= (p.Thr1106=)
c.3314C= (p.Thr1105=)
c.3233C= (p.Thr1078=)
c.3164C= (p.Thr1055=)
c.3032C= (p.Thr1011=)
c.2900C= (p.Thr967=)
20g.32435765C>GCA408562253ASXL1c.3053C>G (p.Thr1018Ser)
c.2870C>G (p.Thr957Ser)
n.5406C>G
c.1869+1184C>G (n.1869+1184C>G)
c.3038C>G (p.Thr1013Ser)
c.3050C>G (p.Thr1017Ser)
c.3023C>G (p.Thr1008Ser)
c.2969C>G (p.Thr990Ser)
c.2369C>G (p.Thr790Ser)
c.3317C>G (p.Thr1106Ser)
c.3314C>G (p.Thr1105Ser)
c.3233C>G (p.Thr1078Ser)
c.3164C>G (p.Thr1055Ser)
c.3032C>G (p.Thr1011Ser)
c.2900C>G (p.Thr967Ser)
 dbSNP
20g.32435765C>TCA313926335ASXL1c.3053C>T (p.Thr1018Ile)
c.2870C>T (p.Thr957Ile)
n.5406C>T
c.1869+1184C>T (n.1869+1184C>T)
c.3038C>T (p.Thr1013Ile)
c.3050C>T (p.Thr1017Ile)
c.3023C>T (p.Thr1008Ile)
c.2969C>T (p.Thr990Ile)
c.2369C>T (p.Thr790Ile)
c.3317C>T (p.Thr1106Ile)
c.3314C>T (p.Thr1105Ile)
c.3233C>T (p.Thr1078Ile)
c.3164C>T (p.Thr1055Ile)
c.3032C>T (p.Thr1011Ile)
c.2900C>T (p.Thr967Ile)
 ClinVar dbSNP
20g.32435766T>ACA510466712ASXL1c.3054T>A (p.Thr1018=)
c.2871T>A (p.Thr957=)
n.5407T>A
c.1869+1185T>A (n.1869+1185T>A)
c.3039T>A (p.Thr1013=)
c.3051T>A (p.Thr1017=)
c.3024T>A (p.Thr1008=)
c.2970T>A (p.Thr990=)
c.2370T>A (p.Thr790=)
c.3318T>A (p.Thr1106=)
c.3315T>A (p.Thr1105=)
c.3234T>A (p.Thr1078=)
c.3165T>A (p.Thr1055=)
c.3033T>A (p.Thr1011=)
c.2901T>A (p.Thr967=)
20g.32435766T>CCA510466711ASXL1c.3054T>C (p.Thr1018=)
c.2871T>C (p.Thr957=)
n.5407T>C
c.1869+1185T>C (n.1869+1185T>C)
c.3039T>C (p.Thr1013=)
c.3051T>C (p.Thr1017=)
c.3024T>C (p.Thr1008=)
c.2970T>C (p.Thr990=)
c.2370T>C (p.Thr790=)
c.3318T>C (p.Thr1106=)
c.3315T>C (p.Thr1105=)
c.3234T>C (p.Thr1078=)
c.3165T>C (p.Thr1055=)
c.3033T>C (p.Thr1011=)
c.2901T>C (p.Thr967=)
20g.32435766T>GCA510466709ASXL1c.3054T>G (p.Thr1018=)
c.2871T>G (p.Thr957=)
n.5407T>G
c.1869+1185T>G (n.1869+1185T>G)
c.3039T>G (p.Thr1013=)
c.3051T>G (p.Thr1017=)
c.3024T>G (p.Thr1008=)
c.2970T>G (p.Thr990=)
c.2370T>G (p.Thr790=)
c.3318T>G (p.Thr1106=)
c.3315T>G (p.Thr1105=)
c.3234T>G (p.Thr1078=)
c.3165T>G (p.Thr1055=)
c.3033T>G (p.Thr1011=)
c.2901T>G (p.Thr967=)
20g.32435766_32435767delCA2652401061ASXL1c.3054_3055del (p.Glu1020SerfsTer13)
c.2871_2872del (p.Glu959SerfsTer13)
n.5407_5408del
c.1869+1185_1869+1186del (n.1869+1185_1869+1186del)
c.3039_3040del (p.Glu1015SerfsTer13)
c.3051_3052del (p.Glu1019SerfsTer13)
c.3024_3025del (p.Glu1010SerfsTer13)
c.2970_2971del (p.Glu992SerfsTer13)
c.2370_2371del (p.Glu792SerfsTer13)
c.3318_3319del (p.Glu1108SerfsTer13)
c.3315_3316del (p.Glu1107SerfsTer13)
c.3234_3235del (p.Glu1080SerfsTer13)
c.3165_3166del (p.Glu1057SerfsTer13)
c.3033_3034del (p.Glu1013SerfsTer13)
c.2901_2902del (p.Glu969SerfsTer13)
 gnomAD v4
20g.32435767A=CA2360293404ASXL1c.3055A= (p.Arg1019=)
c.2872A= (p.Arg958=)
n.5408A=
c.1869+1186A= (n.1869+1186A=)
c.3040A= (p.Arg1014=)
c.3052A= (p.Arg1018=)
c.3025A= (p.Arg1009=)
c.2971A= (p.Arg991=)
c.2371A= (p.Arg791=)
c.3319A= (p.Arg1107=)
c.3316A= (p.Arg1106=)
c.3235A= (p.Arg1079=)
c.3166A= (p.Arg1056=)
c.3034A= (p.Arg1012=)
c.2902A= (p.Arg968=)
20g.32435767A>CCA510466713ASXL1c.3055A>C (p.Arg1019=)
c.2872A>C (p.Arg958=)
n.5408A>C
c.1869+1186A>C (n.1869+1186A>C)
c.3040A>C (p.Arg1014=)
c.3052A>C (p.Arg1018=)
c.3025A>C (p.Arg1009=)
c.2971A>C (p.Arg991=)
c.2371A>C (p.Arg791=)
c.3319A>C (p.Arg1107=)
c.3316A>C (p.Arg1106=)
c.3235A>C (p.Arg1079=)
c.3166A>C (p.Arg1056=)
c.3034A>C (p.Arg1012=)
c.2902A>C (p.Arg968=)
 gnomAD v4
20g.32435767A>GCA9808754ASXL1c.3055A>G (p.Arg1019Gly)
c.2872A>G (p.Arg958Gly)
n.5408A>G
c.1869+1186A>G (n.1869+1186A>G)
c.3040A>G (p.Arg1014Gly)
c.3052A>G (p.Arg1018Gly)
c.3025A>G (p.Arg1009Gly)
c.2971A>G (p.Arg991Gly)
c.2371A>G (p.Arg791Gly)
c.3319A>G (p.Arg1107Gly)
c.3316A>G (p.Arg1106Gly)
c.3235A>G (p.Arg1079Gly)
c.3166A>G (p.Arg1056Gly)
c.3034A>G (p.Arg1012Gly)
c.2902A>G (p.Arg968Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.32435767A>TCA408562254ASXL1c.3055A>T (p.Arg1019Ter)
c.2872A>T (p.Arg958Ter)
n.5408A>T
c.1869+1186A>T (n.1869+1186A>T)
c.3040A>T (p.Arg1014Ter)
c.3052A>T (p.Arg1018Ter)
c.3025A>T (p.Arg1009Ter)
c.2971A>T (p.Arg991Ter)
c.2371A>T (p.Arg791Ter)
c.3319A>T (p.Arg1107Ter)
c.3316A>T (p.Arg1106Ter)
c.3235A>T (p.Arg1079Ter)
c.3166A>T (p.Arg1056Ter)
c.3034A>T (p.Arg1012Ter)
c.2902A>T (p.Arg968Ter)
 dbSNP
20g.32435768G>ACA408562255ASXL1c.3056G>A (p.Arg1019Lys)
c.2873G>A (p.Arg958Lys)
n.5409G>A
c.1869+1187G>A (n.1869+1187G>A)
c.3041G>A (p.Arg1014Lys)
c.3053G>A (p.Arg1018Lys)
c.3026G>A (p.Arg1009Lys)
c.2972G>A (p.Arg991Lys)
c.2372G>A (p.Arg791Lys)
c.3320G>A (p.Arg1107Lys)
c.3317G>A (p.Arg1106Lys)
c.3236G>A (p.Arg1079Lys)
c.3167G>A (p.Arg1056Lys)
c.3035G>A (p.Arg1012Lys)
c.2903G>A (p.Arg968Lys)
 dbSNP
20g.32435768G>CCA408562256ASXL1c.3056G>C (p.Arg1019Thr)
c.2873G>C (p.Arg958Thr)
n.5409G>C
c.1869+1187G>C (n.1869+1187G>C)
c.3041G>C (p.Arg1014Thr)
c.3053G>C (p.Arg1018Thr)
c.3026G>C (p.Arg1009Thr)
c.2972G>C (p.Arg991Thr)
c.2372G>C (p.Arg791Thr)
c.3320G>C (p.Arg1107Thr)
c.3317G>C (p.Arg1106Thr)
c.3236G>C (p.Arg1079Thr)
c.3167G>C (p.Arg1056Thr)
c.3035G>C (p.Arg1012Thr)
c.2903G>C (p.Arg968Thr)
20g.32435768G>TCA408562257ASXL1c.3056G>T (p.Arg1019Ile)
c.2873G>T (p.Arg958Ile)
n.5409G>T
c.1869+1187G>T (n.1869+1187G>T)
c.3041G>T (p.Arg1014Ile)
c.3053G>T (p.Arg1018Ile)
c.3026G>T (p.Arg1009Ile)
c.2972G>T (p.Arg991Ile)
c.2372G>T (p.Arg791Ile)
c.3320G>T (p.Arg1107Ile)
c.3317G>T (p.Arg1106Ile)
c.3236G>T (p.Arg1079Ile)
c.3167G>T (p.Arg1056Ile)
c.3035G>T (p.Arg1012Ile)
c.2903G>T (p.Arg968Ile)
20g.32435769A=CA2360293405ASXL1c.3057A= (p.Arg1019=)
c.2874A= (p.Arg958=)
n.5410A=
c.1869+1188A= (n.1869+1188A=)
c.3042A= (p.Arg1014=)
c.3054A= (p.Arg1018=)
c.3027A= (p.Arg1009=)
c.2973A= (p.Arg991=)
c.2373A= (p.Arg791=)
c.3321A= (p.Arg1107=)
c.3318A= (p.Arg1106=)
c.3237A= (p.Arg1079=)
c.3168A= (p.Arg1056=)
c.3036A= (p.Arg1012=)
c.2904A= (p.Arg968=)
20g.32435769A>CCA408562258ASXL1c.3057A>C (p.Arg1019Ser)
c.2874A>C (p.Arg958Ser)
n.5410A>C
c.1869+1188A>C (n.1869+1188A>C)
c.3042A>C (p.Arg1014Ser)
c.3054A>C (p.Arg1018Ser)
c.3027A>C (p.Arg1009Ser)
c.2973A>C (p.Arg991Ser)
c.2373A>C (p.Arg791Ser)
c.3321A>C (p.Arg1107Ser)
c.3318A>C (p.Arg1106Ser)
c.3237A>C (p.Arg1079Ser)
c.3168A>C (p.Arg1056Ser)
c.3036A>C (p.Arg1012Ser)
c.2904A>C (p.Arg968Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.32435769A>GCA510466723ASXL1c.3057A>G (p.Arg1019=)
c.2874A>G (p.Arg958=)
n.5410A>G
c.1869+1188A>G (n.1869+1188A>G)
c.3042A>G (p.Arg1014=)
c.3054A>G (p.Arg1018=)
c.3027A>G (p.Arg1009=)
c.2973A>G (p.Arg991=)
c.2373A>G (p.Arg791=)
c.3321A>G (p.Arg1107=)
c.3318A>G (p.Arg1106=)
c.3237A>G (p.Arg1079=)
c.3168A>G (p.Arg1056=)
c.3036A>G (p.Arg1012=)
c.2904A>G (p.Arg968=)
20g.32435769A>TCA408562259ASXL1c.3057A>T (p.Arg1019Ser)
c.2874A>T (p.Arg958Ser)
n.5410A>T
c.1869+1188A>T (n.1869+1188A>T)
c.3042A>T (p.Arg1014Ser)
c.3054A>T (p.Arg1018Ser)
c.3027A>T (p.Arg1009Ser)
c.2973A>T (p.Arg991Ser)
c.2373A>T (p.Arg791Ser)
c.3321A>T (p.Arg1107Ser)
c.3318A>T (p.Arg1106Ser)
c.3237A>T (p.Arg1079Ser)
c.3168A>T (p.Arg1056Ser)
c.3036A>T (p.Arg1012Ser)
c.2904A>T (p.Arg968Ser)
 dbSNP
20g.32435770G>ACA9808755ASXL1c.3058G>A (p.Glu1020Lys)
c.2875G>A (p.Glu959Lys)
n.5411G>A
c.1869+1189G>A (n.1869+1189G>A)
c.3043G>A (p.Glu1015Lys)
c.3055G>A (p.Glu1019Lys)
c.3028G>A (p.Glu1010Lys)
c.2974G>A (p.Glu992Lys)
c.2374G>A (p.Glu792Lys)
c.3322G>A (p.Glu1108Lys)
c.3319G>A (p.Glu1107Lys)
c.3238G>A (p.Glu1080Lys)
c.3169G>A (p.Glu1057Lys)
c.3037G>A (p.Glu1013Lys)
c.2905G>A (p.Glu969Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32435770G>CCA408562261ASXL1c.3058G>C (p.Glu1020Gln)
c.2875G>C (p.Glu959Gln)
n.5411G>C
c.1869+1189G>C (n.1869+1189G>C)
c.3043G>C (p.Glu1015Gln)
c.3055G>C (p.Glu1019Gln)
c.3028G>C (p.Glu1010Gln)
c.2974G>C (p.Glu992Gln)
c.2374G>C (p.Glu792Gln)
c.3322G>C (p.Glu1108Gln)
c.3319G>C (p.Glu1107Gln)
c.3238G>C (p.Glu1080Gln)
c.3169G>C (p.Glu1057Gln)
c.3037G>C (p.Glu1013Gln)
c.2905G>C (p.Glu969Gln)
20g.32435770G=CA2360293406ASXL1c.3058G= (p.Glu1020=)
c.2875G= (p.Glu959=)
n.5411G=
c.1869+1189G= (n.1869+1189G=)
c.3043G= (p.Glu1015=)
c.3055G= (p.Glu1019=)
c.3028G= (p.Glu1010=)
c.2974G= (p.Glu992=)
c.2374G= (p.Glu792=)
c.3322G= (p.Glu1108=)
c.3319G= (p.Glu1107=)
c.3238G= (p.Glu1080=)
c.3169G= (p.Glu1057=)
c.3037G= (p.Glu1013=)
c.2905G= (p.Glu969=)
20g.32435770G>TCA408562260ASXL1c.3058G>T (p.Glu1020Ter)
c.2875G>T (p.Glu959Ter)
n.5411G>T
c.1869+1189G>T (n.1869+1189G>T)
c.3043G>T (p.Glu1015Ter)
c.3055G>T (p.Glu1019Ter)
c.3028G>T (p.Glu1010Ter)
c.2974G>T (p.Glu992Ter)
c.2374G>T (p.Glu792Ter)
c.3322G>T (p.Glu1108Ter)
c.3319G>T (p.Glu1107Ter)
c.3238G>T (p.Glu1080Ter)
c.3169G>T (p.Glu1057Ter)
c.3037G>T (p.Glu1013Ter)
c.2905G>T (p.Glu969Ter)
20g.32435770_32435776delCA2652401062ASXL1c.3058_3064del (p.Glu1020GlnfsTer2)
c.2875_2881del (p.Glu959GlnfsTer2)
n.5411_5417del
c.1869+1189_1869+1195del (n.1869+1189_1869+1195del)
c.3043_3049del (p.Glu1015GlnfsTer2)
c.3055_3061del (p.Glu1019GlnfsTer2)
c.3028_3034del (p.Glu1010GlnfsTer2)
c.2974_2980del (p.Glu992GlnfsTer2)
c.2374_2380del (p.Glu792GlnfsTer2)
c.3322_3328del (p.Glu1108GlnfsTer2)
c.3319_3325del (p.Glu1107GlnfsTer2)
c.3238_3244del (p.Glu1080GlnfsTer2)
c.3169_3175del (p.Glu1057GlnfsTer2)
c.3037_3043del (p.Glu1013GlnfsTer2)
c.2905_2911del (p.Glu969GlnfsTer2)
 gnomAD v4
20g.32435771A>CCA408562262ASXL1c.3059A>C (p.Glu1020Ala)
c.2876A>C (p.Glu959Ala)
n.5412A>C
c.1869+1190A>C (n.1869+1190A>C)
c.3044A>C (p.Glu1015Ala)
c.3056A>C (p.Glu1019Ala)
c.3029A>C (p.Glu1010Ala)
c.2975A>C (p.Glu992Ala)
c.2375A>C (p.Glu792Ala)
c.3323A>C (p.Glu1108Ala)
c.3320A>C (p.Glu1107Ala)
c.3239A>C (p.Glu1080Ala)
c.3170A>C (p.Glu1057Ala)
c.3038A>C (p.Glu1013Ala)
c.2906A>C (p.Glu969Ala)
20g.32435771A>GCA408562263ASXL1c.3059A>G (p.Glu1020Gly)
c.2876A>G (p.Glu959Gly)
n.5412A>G
c.1869+1190A>G (n.1869+1190A>G)
c.3044A>G (p.Glu1015Gly)
c.3056A>G (p.Glu1019Gly)
c.3029A>G (p.Glu1010Gly)
c.2975A>G (p.Glu992Gly)
c.2375A>G (p.Glu792Gly)
c.3323A>G (p.Glu1108Gly)
c.3320A>G (p.Glu1107Gly)
c.3239A>G (p.Glu1080Gly)
c.3170A>G (p.Glu1057Gly)
c.3038A>G (p.Glu1013Gly)
c.2906A>G (p.Glu969Gly)
20g.32435771A>TCA408562264ASXL1c.3059A>T (p.Glu1020Val)
c.2876A>T (p.Glu959Val)
n.5412A>T
c.1869+1190A>T (n.1869+1190A>T)
c.3044A>T (p.Glu1015Val)
c.3056A>T (p.Glu1019Val)
c.3029A>T (p.Glu1010Val)
c.2975A>T (p.Glu992Val)
c.2375A>T (p.Glu792Val)
c.3323A>T (p.Glu1108Val)
c.3320A>T (p.Glu1107Val)
c.3239A>T (p.Glu1080Val)
c.3170A>T (p.Glu1057Val)
c.3038A>T (p.Glu1013Val)
c.2906A>T (p.Glu969Val)
20g.32435772A>CCA408562265ASXL1c.3060A>C (p.Glu1020Asp)
c.2877A>C (p.Glu959Asp)
n.5413A>C
c.1869+1191A>C (n.1869+1191A>C)
c.3045A>C (p.Glu1015Asp)
c.3057A>C (p.Glu1019Asp)
c.3030A>C (p.Glu1010Asp)
c.2976A>C (p.Glu992Asp)
c.2376A>C (p.Glu792Asp)
c.3324A>C (p.Glu1108Asp)
c.3321A>C (p.Glu1107Asp)
c.3240A>C (p.Glu1080Asp)
c.3171A>C (p.Glu1057Asp)
c.3039A>C (p.Glu1013Asp)
c.2907A>C (p.Glu969Asp)
20g.32435772A>GCA510466730ASXL1c.3060A>G (p.Glu1020=)
c.2877A>G (p.Glu959=)
n.5413A>G
c.1869+1191A>G (n.1869+1191A>G)
c.3045A>G (p.Glu1015=)
c.3057A>G (p.Glu1019=)
c.3030A>G (p.Glu1010=)
c.2976A>G (p.Glu992=)
c.2376A>G (p.Glu792=)
c.3324A>G (p.Glu1108=)
c.3321A>G (p.Glu1107=)
c.3240A>G (p.Glu1080=)
c.3171A>G (p.Glu1057=)
c.3039A>G (p.Glu1013=)
c.2907A>G (p.Glu969=)
 gnomAD v4
20g.32435772A>TCA408562266ASXL1c.3060A>T (p.Glu1020Asp)
c.2877A>T (p.Glu959Asp)
n.5413A>T
c.1869+1191A>T (n.1869+1191A>T)
c.3045A>T (p.Glu1015Asp)
c.3057A>T (p.Glu1019Asp)
c.3030A>T (p.Glu1010Asp)
c.2976A>T (p.Glu992Asp)
c.2376A>T (p.Glu792Asp)
c.3324A>T (p.Glu1108Asp)
c.3321A>T (p.Glu1107Asp)
c.3240A>T (p.Glu1080Asp)
c.3171A>T (p.Glu1057Asp)
c.3039A>T (p.Glu1013Asp)
c.2907A>T (p.Glu969Asp)
20g.32435773delCA2652401063ASXL1c.3061del (p.Ala1021LeufsTer3)
c.2878del (p.Ala960LeufsTer3)
n.5414del
c.1869+1192del (n.1869+1192del)
c.3046del (p.Ala1016LeufsTer3)
c.3058del (p.Ala1020LeufsTer3)
c.3031del (p.Ala1011LeufsTer3)
c.2977del (p.Ala993LeufsTer3)
c.2377del (p.Ala793LeufsTer3)
c.3325del (p.Ala1109LeufsTer3)
c.3322del (p.Ala1108LeufsTer3)
c.3241del (p.Ala1081LeufsTer3)
c.3172del (p.Ala1058LeufsTer3)
c.3040del (p.Ala1014LeufsTer3)
c.2908del (p.Ala970LeufsTer3)
 gnomAD v4
20g.32435773G>ACA408562267ASXL1c.3061G>A (p.Ala1021Thr)
c.2878G>A (p.Ala960Thr)
n.5414G>A
c.1869+1192G>A (n.1869+1192G>A)
c.3046G>A (p.Ala1016Thr)
c.3058G>A (p.Ala1020Thr)
c.3031G>A (p.Ala1011Thr)
c.2977G>A (p.Ala993Thr)
c.2377G>A (p.Ala793Thr)
c.3325G>A (p.Ala1109Thr)
c.3322G>A (p.Ala1108Thr)
c.3241G>A (p.Ala1081Thr)
c.3172G>A (p.Ala1058Thr)
c.3040G>A (p.Ala1014Thr)
c.2908G>A (p.Ala970Thr)
20g.32435773G>CCA408562268ASXL1c.3061G>C (p.Ala1021Pro)
c.2878G>C (p.Ala960Pro)
n.5414G>C
c.1869+1192G>C (n.1869+1192G>C)
c.3046G>C (p.Ala1016Pro)
c.3058G>C (p.Ala1020Pro)
c.3031G>C (p.Ala1011Pro)
c.2977G>C (p.Ala993Pro)
c.2377G>C (p.Ala793Pro)
c.3325G>C (p.Ala1109Pro)
c.3322G>C (p.Ala1108Pro)
c.3241G>C (p.Ala1081Pro)
c.3172G>C (p.Ala1058Pro)
c.3040G>C (p.Ala1014Pro)
c.2908G>C (p.Ala970Pro)
20g.32435773G>TCA408562269ASXL1c.3061G>T (p.Ala1021Ser)
c.2878G>T (p.Ala960Ser)
n.5414G>T
c.1869+1192G>T (n.1869+1192G>T)
c.3046G>T (p.Ala1016Ser)
c.3058G>T (p.Ala1020Ser)
c.3031G>T (p.Ala1011Ser)
c.2977G>T (p.Ala993Ser)
c.2377G>T (p.Ala793Ser)
c.3325G>T (p.Ala1109Ser)
c.3322G>T (p.Ala1108Ser)
c.3241G>T (p.Ala1081Ser)
c.3172G>T (p.Ala1058Ser)
c.3040G>T (p.Ala1014Ser)
c.2908G>T (p.Ala970Ser)
20g.32435774C>ACA408562270ASXL1c.3062C>A (p.Ala1021Asp)
c.2879C>A (p.Ala960Asp)
n.5415C>A
c.1869+1193C>A (n.1869+1193C>A)
c.3047C>A (p.Ala1016Asp)
c.3059C>A (p.Ala1020Asp)
c.3032C>A (p.Ala1011Asp)
c.2978C>A (p.Ala993Asp)
c.2378C>A (p.Ala793Asp)
c.3326C>A (p.Ala1109Asp)
c.3323C>A (p.Ala1108Asp)
c.3242C>A (p.Ala1081Asp)
c.3173C>A (p.Ala1058Asp)
c.3041C>A (p.Ala1014Asp)
c.2909C>A (p.Ala970Asp)
20g.32435774C>GCA408562271ASXL1c.3062C>G (p.Ala1021Gly)
c.2879C>G (p.Ala960Gly)
n.5415C>G
c.1869+1193C>G (n.1869+1193C>G)
c.3047C>G (p.Ala1016Gly)
c.3059C>G (p.Ala1020Gly)
c.3032C>G (p.Ala1011Gly)
c.2978C>G (p.Ala993Gly)
c.2378C>G (p.Ala793Gly)
c.3326C>G (p.Ala1109Gly)
c.3323C>G (p.Ala1108Gly)
c.3242C>G (p.Ala1081Gly)
c.3173C>G (p.Ala1058Gly)
c.3041C>G (p.Ala1014Gly)
c.2909C>G (p.Ala970Gly)
 dbSNP
20g.32435774C>TCA408562272ASXL1c.3062C>T (p.Ala1021Val)
c.2879C>T (p.Ala960Val)
n.5415C>T
c.1869+1193C>T (n.1869+1193C>T)
c.3047C>T (p.Ala1016Val)
c.3059C>T (p.Ala1020Val)
c.3032C>T (p.Ala1011Val)
c.2978C>T (p.Ala993Val)
c.2378C>T (p.Ala793Val)
c.3326C>T (p.Ala1109Val)
c.3323C>T (p.Ala1108Val)
c.3242C>T (p.Ala1081Val)
c.3173C>T (p.Ala1058Val)
c.3041C>T (p.Ala1014Val)
c.2909C>T (p.Ala970Val)
20g.32435775delCA2577366247ASXL1c.3063del (p.Ala1022GlnfsTer2)
c.2880del (p.Ala961GlnfsTer2)
n.5416del
c.1869+1194del (n.1869+1194del)
c.3048del (p.Ala1017GlnfsTer2)
c.3060del (p.Ala1021GlnfsTer2)
c.3033del (p.Ala1012GlnfsTer2)
c.2979del (p.Ala994GlnfsTer2)
c.2379del (p.Ala794GlnfsTer2)
c.3327del (p.Ala1110GlnfsTer2)
c.3324del (p.Ala1109GlnfsTer2)
c.3243del (p.Ala1082GlnfsTer2)
c.3174del (p.Ala1059GlnfsTer2)
c.3042del (p.Ala1015GlnfsTer2)
c.2910del (p.Ala971GlnfsTer2)
20g.32435775T>ACA510466734ASXL1c.3063T>A (p.Ala1021=)
c.2880T>A (p.Ala960=)
n.5416T>A
c.1869+1194T>A (n.1869+1194T>A)
c.3048T>A (p.Ala1016=)
c.3060T>A (p.Ala1020=)
c.3033T>A (p.Ala1011=)
c.2979T>A (p.Ala993=)
c.2379T>A (p.Ala793=)
c.3327T>A (p.Ala1109=)
c.3324T>A (p.Ala1108=)
c.3243T>A (p.Ala1081=)
c.3174T>A (p.Ala1058=)
c.3042T>A (p.Ala1014=)
c.2910T>A (p.Ala970=)
20g.32435775T>CCA510466735ASXL1c.3063T>C (p.Ala1021=)
c.2880T>C (p.Ala960=)
n.5416T>C
c.1869+1194T>C (n.1869+1194T>C)
c.3048T>C (p.Ala1016=)
c.3060T>C (p.Ala1020=)
c.3033T>C (p.Ala1011=)
c.2979T>C (p.Ala993=)
c.2379T>C (p.Ala793=)
c.3327T>C (p.Ala1109=)
c.3324T>C (p.Ala1108=)
c.3243T>C (p.Ala1081=)
c.3174T>C (p.Ala1058=)
c.3042T>C (p.Ala1014=)
c.2910T>C (p.Ala970=)
 gnomAD v4
20g.32435775T>GCA510466736ASXL1c.3063T>G (p.Ala1021=)
c.2880T>G (p.Ala960=)
n.5416T>G
c.1869+1194T>G (n.1869+1194T>G)
c.3048T>G (p.Ala1016=)
c.3060T>G (p.Ala1020=)
c.3033T>G (p.Ala1011=)
c.2979T>G (p.Ala993=)
c.2379T>G (p.Ala793=)
c.3327T>G (p.Ala1109=)
c.3324T>G (p.Ala1108=)
c.3243T>G (p.Ala1081=)
c.3174T>G (p.Ala1058=)
c.3042T>G (p.Ala1014=)
c.2910T>G (p.Ala970=)
20g.32435776G>ACA408562273ASXL1c.3064G>A (p.Ala1022Thr)
c.2881G>A (p.Ala961Thr)
n.5417G>A
c.1869+1195G>A (n.1869+1195G>A)
c.3049G>A (p.Ala1017Thr)
c.3061G>A (p.Ala1021Thr)
c.3034G>A (p.Ala1012Thr)
c.2980G>A (p.Ala994Thr)
c.2380G>A (p.Ala794Thr)
c.3328G>A (p.Ala1110Thr)
c.3325G>A (p.Ala1109Thr)
c.3244G>A (p.Ala1082Thr)
c.3175G>A (p.Ala1059Thr)
c.3043G>A (p.Ala1015Thr)
c.2911G>A (p.Ala971Thr)
 gnomAD v4
20g.32435776G>CCA408562275ASXL1c.3064G>C (p.Ala1022Pro)
c.2881G>C (p.Ala961Pro)
n.5417G>C
c.1869+1195G>C (n.1869+1195G>C)
c.3049G>C (p.Ala1017Pro)
c.3061G>C (p.Ala1021Pro)
c.3034G>C (p.Ala1012Pro)
c.2980G>C (p.Ala994Pro)
c.2380G>C (p.Ala794Pro)
c.3328G>C (p.Ala1110Pro)
c.3325G>C (p.Ala1109Pro)
c.3244G>C (p.Ala1082Pro)
c.3175G>C (p.Ala1059Pro)
c.3043G>C (p.Ala1015Pro)
c.2911G>C (p.Ala971Pro)
 dbSNP
20g.32435776G>TCA408562274ASXL1c.3064G>T (p.Ala1022Ser)
c.2881G>T (p.Ala961Ser)
n.5417G>T
c.1869+1195G>T (n.1869+1195G>T)
c.3049G>T (p.Ala1017Ser)
c.3061G>T (p.Ala1021Ser)
c.3034G>T (p.Ala1012Ser)
c.2980G>T (p.Ala994Ser)
c.2380G>T (p.Ala794Ser)
c.3328G>T (p.Ala1110Ser)
c.3325G>T (p.Ala1109Ser)
c.3244G>T (p.Ala1082Ser)
c.3175G>T (p.Ala1059Ser)
c.3043G>T (p.Ala1015Ser)
c.2911G>T (p.Ala971Ser)
20g.32435777delCA2652401064ASXL1c.3065del (p.Ala1022GlufsTer2)
c.2882del (p.Ala961GlufsTer2)
n.5418del
c.1869+1196del (n.1869+1196del)
c.3050del (p.Ala1017GlufsTer2)
c.3062del (p.Ala1021GlufsTer2)
c.3035del (p.Ala1012GlufsTer2)
c.2981del (p.Ala994GlufsTer2)
c.2381del (p.Ala794GlufsTer2)
c.3329del (p.Ala1110GlufsTer2)
c.3326del (p.Ala1109GlufsTer2)
c.3245del (p.Ala1082GlufsTer2)
c.3176del (p.Ala1059GlufsTer2)
c.3044del (p.Ala1015GlufsTer2)
c.2912del (p.Ala971GlufsTer2)
 gnomAD v4
20g.32435777C>ACA408562276ASXL1c.3065C>A (p.Ala1022Glu)
c.2882C>A (p.Ala961Glu)
n.5418C>A
c.1869+1196C>A (n.1869+1196C>A)
c.3050C>A (p.Ala1017Glu)
c.3062C>A (p.Ala1021Glu)
c.3035C>A (p.Ala1012Glu)
c.2981C>A (p.Ala994Glu)
c.2381C>A (p.Ala794Glu)
c.3329C>A (p.Ala1110Glu)
c.3326C>A (p.Ala1109Glu)
c.3245C>A (p.Ala1082Glu)
c.3176C>A (p.Ala1059Glu)
c.3044C>A (p.Ala1015Glu)
c.2912C>A (p.Ala971Glu)
 dbSNP
20g.32435777C=CA2360293407ASXL1c.3065C= (p.Ala1022=)
c.2882C= (p.Ala961=)
n.5418C=
c.1869+1196C= (n.1869+1196C=)
c.3050C= (p.Ala1017=)
c.3062C= (p.Ala1021=)
c.3035C= (p.Ala1012=)
c.2981C= (p.Ala994=)
c.2381C= (p.Ala794=)
c.3329C= (p.Ala1110=)
c.3326C= (p.Ala1109=)
c.3245C= (p.Ala1082=)
c.3176C= (p.Ala1059=)
c.3044C= (p.Ala1015=)
c.2912C= (p.Ala971=)
20g.32435777C>GCA408562277ASXL1c.3065C>G (p.Ala1022Gly)
c.2882C>G (p.Ala961Gly)
n.5418C>G
c.1869+1196C>G (n.1869+1196C>G)
c.3050C>G (p.Ala1017Gly)
c.3062C>G (p.Ala1021Gly)
c.3035C>G (p.Ala1012Gly)
c.2981C>G (p.Ala994Gly)
c.2381C>G (p.Ala794Gly)
c.3329C>G (p.Ala1110Gly)
c.3326C>G (p.Ala1109Gly)
c.3245C>G (p.Ala1082Gly)
c.3176C>G (p.Ala1059Gly)
c.3044C>G (p.Ala1015Gly)
c.2912C>G (p.Ala971Gly)
20g.32435777C>TCA408562278ASXL1c.3065C>T (p.Ala1022Val)
c.2882C>T (p.Ala961Val)
n.5418C>T
c.1869+1196C>T (n.1869+1196C>T)
c.3050C>T (p.Ala1017Val)
c.3062C>T (p.Ala1021Val)
c.3035C>T (p.Ala1012Val)
c.2981C>T (p.Ala994Val)
c.2381C>T (p.Ala794Val)
c.3329C>T (p.Ala1110Val)
c.3326C>T (p.Ala1109Val)
c.3245C>T (p.Ala1082Val)
c.3176C>T (p.Ala1059Val)
c.3044C>T (p.Ala1015Val)
c.2912C>T (p.Ala971Val)
 dbSNP
20g.32435778A=CA2360293408ASXL1c.3066A= (p.Ala1022=)
c.2883A= (p.Ala961=)
n.5419A=
c.1869+1197A= (n.1869+1197A=)
c.3051A= (p.Ala1017=)
c.3063A= (p.Ala1021=)
c.3036A= (p.Ala1012=)
c.2982A= (p.Ala994=)
c.2382A= (p.Ala794=)
c.3330A= (p.Ala1110=)
c.3327A= (p.Ala1109=)
c.3246A= (p.Ala1082=)
c.3177A= (p.Ala1059=)
c.3045A= (p.Ala1015=)
c.2913A= (p.Ala971=)
20g.32435778A>CCA510466744ASXL1c.3066A>C (p.Ala1022=)
c.2883A>C (p.Ala961=)
n.5419A>C
c.1869+1197A>C (n.1869+1197A>C)
c.3051A>C (p.Ala1017=)
c.3063A>C (p.Ala1021=)
c.3036A>C (p.Ala1012=)
c.2982A>C (p.Ala994=)
c.2382A>C (p.Ala794=)
c.3330A>C (p.Ala1110=)
c.3327A>C (p.Ala1109=)
c.3246A>C (p.Ala1082=)
c.3177A>C (p.Ala1059=)
c.3045A>C (p.Ala1015=)
c.2913A>C (p.Ala971=)
20g.32435778A>GCA510466747ASXL1c.3066A>G (p.Ala1022=)
c.2883A>G (p.Ala961=)
n.5419A>G
c.1869+1197A>G (n.1869+1197A>G)
c.3051A>G (p.Ala1017=)
c.3063A>G (p.Ala1021=)
c.3036A>G (p.Ala1012=)
c.2982A>G (p.Ala994=)
c.2382A>G (p.Ala794=)
c.3330A>G (p.Ala1110=)
c.3327A>G (p.Ala1109=)
c.3246A>G (p.Ala1082=)
c.3177A>G (p.Ala1059=)
c.3045A>G (p.Ala1015=)
c.2913A>G (p.Ala971=)
 dbSNP gnomAD v3 gnomAD v4
20g.32435778A>TCA510466745ASXL1c.3066A>T (p.Ala1022=)
c.2883A>T (p.Ala961=)
n.5419A>T
c.1869+1197A>T (n.1869+1197A>T)
c.3051A>T (p.Ala1017=)
c.3063A>T (p.Ala1021=)
c.3036A>T (p.Ala1012=)
c.2982A>T (p.Ala994=)
c.2382A>T (p.Ala794=)
c.3330A>T (p.Ala1110=)
c.3327A>T (p.Ala1109=)
c.3246A>T (p.Ala1082=)
c.3177A>T (p.Ala1059=)
c.3045A>T (p.Ala1015=)
c.2913A>T (p.Ala971=)
20g.32435779G>ACA408562279ASXL1c.3067G>A (p.Val1023Met)
c.2884G>A (p.Val962Met)
n.5420G>A
c.1869+1198G>A (n.1869+1198G>A)
c.3052G>A (p.Val1018Met)
c.3064G>A (p.Val1022Met)
c.3037G>A (p.Val1013Met)
c.2983G>A (p.Val995Met)
c.2383G>A (p.Val795Met)
c.3331G>A (p.Val1111Met)
c.3328G>A (p.Val1110Met)
c.3247G>A (p.Val1083Met)
c.3178G>A (p.Val1060Met)
c.3046G>A (p.Val1016Met)
c.2914G>A (p.Val972Met)
 dbSNP gnomAD v4
20g.32435779G>CCA408562280ASXL1c.3067G>C (p.Val1023Leu)
c.2884G>C (p.Val962Leu)
n.5420G>C
c.1869+1198G>C (n.1869+1198G>C)
c.3052G>C (p.Val1018Leu)
c.3064G>C (p.Val1022Leu)
c.3037G>C (p.Val1013Leu)
c.2983G>C (p.Val995Leu)
c.2383G>C (p.Val795Leu)
c.3331G>C (p.Val1111Leu)
c.3328G>C (p.Val1110Leu)
c.3247G>C (p.Val1083Leu)
c.3178G>C (p.Val1060Leu)
c.3046G>C (p.Val1016Leu)
c.2914G>C (p.Val972Leu)
20g.32435779G>TCA408562281ASXL1c.3067G>T (p.Val1023Leu)
c.2884G>T (p.Val962Leu)
n.5420G>T
c.1869+1198G>T (n.1869+1198G>T)
c.3052G>T (p.Val1018Leu)
c.3064G>T (p.Val1022Leu)
c.3037G>T (p.Val1013Leu)
c.2983G>T (p.Val995Leu)
c.2383G>T (p.Val795Leu)
c.3331G>T (p.Val1111Leu)
c.3328G>T (p.Val1110Leu)
c.3247G>T (p.Val1083Leu)
c.3178G>T (p.Val1060Leu)
c.3046G>T (p.Val1016Leu)
c.2914G>T (p.Val972Leu)
 gnomAD v4
20g.32435780T>ACA408562282ASXL1c.3068T>A (p.Val1023Glu)
c.2885T>A (p.Val962Glu)
n.5421T>A
c.1869+1199T>A (n.1869+1199T>A)
c.3053T>A (p.Val1018Glu)
c.3065T>A (p.Val1022Glu)
c.3038T>A (p.Val1013Glu)
c.2984T>A (p.Val995Glu)
c.2384T>A (p.Val795Glu)
c.3332T>A (p.Val1111Glu)
c.3329T>A (p.Val1110Glu)
c.3248T>A (p.Val1083Glu)
c.3179T>A (p.Val1060Glu)
c.3047T>A (p.Val1016Glu)
c.2915T>A (p.Val972Glu)
20g.32435780T>CCA408562283ASXL1c.3068T>C (p.Val1023Ala)
c.2885T>C (p.Val962Ala)
n.5421T>C
c.1869+1199T>C (n.1869+1199T>C)
c.3053T>C (p.Val1018Ala)
c.3065T>C (p.Val1022Ala)
c.3038T>C (p.Val1013Ala)
c.2984T>C (p.Val995Ala)
c.2384T>C (p.Val795Ala)
c.3332T>C (p.Val1111Ala)
c.3329T>C (p.Val1110Ala)
c.3248T>C (p.Val1083Ala)
c.3179T>C (p.Val1060Ala)
c.3047T>C (p.Val1016Ala)
c.2915T>C (p.Val972Ala)
20g.32435780T>GCA408562284ASXL1c.3068T>G (p.Val1023Gly)
c.2885T>G (p.Val962Gly)
n.5421T>G
c.1869+1199T>G (n.1869+1199T>G)
c.3053T>G (p.Val1018Gly)
c.3065T>G (p.Val1022Gly)
c.3038T>G (p.Val1013Gly)
c.2984T>G (p.Val995Gly)
c.2384T>G (p.Val795Gly)
c.3332T>G (p.Val1111Gly)
c.3329T>G (p.Val1110Gly)
c.3248T>G (p.Val1083Gly)
c.3179T>G (p.Val1060Gly)
c.3047T>G (p.Val1016Gly)
c.2915T>G (p.Val972Gly)
20g.32435781G>ACA510466751ASXL1c.3069G>A (p.Val1023=)
c.2886G>A (p.Val962=)
n.5422G>A
c.1869+1200G>A (n.1869+1200G>A)
c.3054G>A (p.Val1018=)
c.3066G>A (p.Val1022=)
c.3039G>A (p.Val1013=)
c.2985G>A (p.Val995=)
c.2385G>A (p.Val795=)
c.3333G>A (p.Val1111=)
c.3330G>A (p.Val1110=)
c.3249G>A (p.Val1083=)
c.3180G>A (p.Val1060=)
c.3048G>A (p.Val1016=)
c.2916G>A (p.Val972=)
20g.32435781G>CCA510466752ASXL1c.3069G>C (p.Val1023=)
c.2886G>C (p.Val962=)
n.5422G>C
c.1869+1200G>C (n.1869+1200G>C)
c.3054G>C (p.Val1018=)
c.3066G>C (p.Val1022=)
c.3039G>C (p.Val1013=)
c.2985G>C (p.Val995=)
c.2385G>C (p.Val795=)
c.3333G>C (p.Val1111=)
c.3330G>C (p.Val1110=)
c.3249G>C (p.Val1083=)
c.3180G>C (p.Val1060=)
c.3048G>C (p.Val1016=)
c.2916G>C (p.Val972=)
20g.32435781G>TCA510466753ASXL1c.3069G>T (p.Val1023=)
c.2886G>T (p.Val962=)
n.5422G>T
c.1869+1200G>T (n.1869+1200G>T)
c.3054G>T (p.Val1018=)
c.3066G>T (p.Val1022=)
c.3039G>T (p.Val1013=)
c.2985G>T (p.Val995=)
c.2385G>T (p.Val795=)
c.3333G>T (p.Val1111=)
c.3330G>T (p.Val1110=)
c.3249G>T (p.Val1083=)
c.3180G>T (p.Val1060=)
c.3048G>T (p.Val1016=)
c.2916G>T (p.Val972=)
20g.32435782A>CCA408562285ASXL1c.3070A>C (p.Thr1024Pro)
c.2887A>C (p.Thr963Pro)
n.5423A>C
c.1869+1201A>C (n.1869+1201A>C)
c.3055A>C (p.Thr1019Pro)
c.3067A>C (p.Thr1023Pro)
c.3040A>C (p.Thr1014Pro)
c.2986A>C (p.Thr996Pro)
c.2386A>C (p.Thr796Pro)
c.3334A>C (p.Thr1112Pro)
c.3331A>C (p.Thr1111Pro)
c.3250A>C (p.Thr1084Pro)
c.3181A>C (p.Thr1061Pro)
c.3049A>C (p.Thr1017Pro)
c.2917A>C (p.Thr973Pro)
20g.32435782A>GCA408562286ASXL1c.3070A>G (p.Thr1024Ala)
c.2887A>G (p.Thr963Ala)
n.5423A>G
c.1869+1201A>G (n.1869+1201A>G)
c.3055A>G (p.Thr1019Ala)
c.3067A>G (p.Thr1023Ala)
c.3040A>G (p.Thr1014Ala)
c.2986A>G (p.Thr996Ala)
c.2386A>G (p.Thr796Ala)
c.3334A>G (p.Thr1112Ala)
c.3331A>G (p.Thr1111Ala)
c.3250A>G (p.Thr1084Ala)
c.3181A>G (p.Thr1061Ala)
c.3049A>G (p.Thr1017Ala)
c.2917A>G (p.Thr973Ala)
20g.32435782A>TCA408562287ASXL1c.3070A>T (p.Thr1024Ser)
c.2887A>T (p.Thr963Ser)
n.5423A>T
c.1869+1201A>T (n.1869+1201A>T)
c.3055A>T (p.Thr1019Ser)
c.3067A>T (p.Thr1023Ser)
c.3040A>T (p.Thr1014Ser)
c.2986A>T (p.Thr996Ser)
c.2386A>T (p.Thr796Ser)
c.3334A>T (p.Thr1112Ser)
c.3331A>T (p.Thr1111Ser)
c.3250A>T (p.Thr1084Ser)
c.3181A>T (p.Thr1061Ser)
c.3049A>T (p.Thr1017Ser)
c.2917A>T (p.Thr973Ser)
20g.32435783C>ACA408562290ASXL1c.3071C>A (p.Thr1024Lys)
c.2888C>A (p.Thr963Lys)
n.5424C>A
c.1869+1202C>A (n.1869+1202C>A)
c.3056C>A (p.Thr1019Lys)
c.3068C>A (p.Thr1023Lys)
c.3041C>A (p.Thr1014Lys)
c.2987C>A (p.Thr996Lys)
c.2387C>A (p.Thr796Lys)
c.3335C>A (p.Thr1112Lys)
c.3332C>A (p.Thr1111Lys)
c.3251C>A (p.Thr1084Lys)
c.3182C>A (p.Thr1061Lys)
c.3050C>A (p.Thr1017Lys)
c.2918C>A (p.Thr973Lys)
20g.32435783C=CA2360293409ASXL1c.3071C= (p.Thr1024=)
c.2888C= (p.Thr963=)
n.5424C=
c.1869+1202C= (n.1869+1202C=)
c.3056C= (p.Thr1019=)
c.3068C= (p.Thr1023=)
c.3041C= (p.Thr1014=)
c.2987C= (p.Thr996=)
c.2387C= (p.Thr796=)
c.3335C= (p.Thr1112=)
c.3332C= (p.Thr1111=)
c.3251C= (p.Thr1084=)
c.3182C= (p.Thr1061=)
c.3050C= (p.Thr1017=)
c.2918C= (p.Thr973=)
20g.32435783C>GCA408562288ASXL1c.3071C>G (p.Thr1024Arg)
c.2888C>G (p.Thr963Arg)
n.5424C>G
c.1869+1202C>G (n.1869+1202C>G)
c.3056C>G (p.Thr1019Arg)
c.3068C>G (p.Thr1023Arg)
c.3041C>G (p.Thr1014Arg)
c.2987C>G (p.Thr996Arg)
c.2387C>G (p.Thr796Arg)
c.3335C>G (p.Thr1112Arg)
c.3332C>G (p.Thr1111Arg)
c.3251C>G (p.Thr1084Arg)
c.3182C>G (p.Thr1061Arg)
c.3050C>G (p.Thr1017Arg)
c.2918C>G (p.Thr973Arg)
 ClinVar dbSNP gnomAD v4
20g.32435783C>TCA408562289ASXL1c.3071C>T (p.Thr1024Ile)
c.2888C>T (p.Thr963Ile)
n.5424C>T
c.1869+1202C>T (n.1869+1202C>T)
c.3056C>T (p.Thr1019Ile)
c.3068C>T (p.Thr1023Ile)
c.3041C>T (p.Thr1014Ile)
c.2987C>T (p.Thr996Ile)
c.2387C>T (p.Thr796Ile)
c.3335C>T (p.Thr1112Ile)
c.3332C>T (p.Thr1111Ile)
c.3251C>T (p.Thr1084Ile)
c.3182C>T (p.Thr1061Ile)
c.3050C>T (p.Thr1017Ile)
c.2918C>T (p.Thr973Ile)
20g.32435784A>CCA510466757ASXL1c.3072A>C (p.Thr1024=)
c.2889A>C (p.Thr963=)
n.5425A>C
c.1869+1203A>C (n.1869+1203A>C)
c.3057A>C (p.Thr1019=)
c.3069A>C (p.Thr1023=)
c.3042A>C (p.Thr1014=)
c.2988A>C (p.Thr996=)
c.2388A>C (p.Thr796=)
c.3336A>C (p.Thr1112=)
c.3333A>C (p.Thr1111=)
c.3252A>C (p.Thr1084=)
c.3183A>C (p.Thr1061=)
c.3051A>C (p.Thr1017=)
c.2919A>C (p.Thr973=)
20g.32435784A>GCA510466758ASXL1c.3072A>G (p.Thr1024=)
c.2889A>G (p.Thr963=)
n.5425A>G
c.1869+1203A>G (n.1869+1203A>G)
c.3057A>G (p.Thr1019=)
c.3069A>G (p.Thr1023=)
c.3042A>G (p.Thr1014=)
c.2988A>G (p.Thr996=)
c.2388A>G (p.Thr796=)
c.3336A>G (p.Thr1112=)
c.3333A>G (p.Thr1111=)
c.3252A>G (p.Thr1084=)
c.3183A>G (p.Thr1061=)
c.3051A>G (p.Thr1017=)
c.2919A>G (p.Thr973=)
 gnomAD v4
20g.32435784A>TCA510466759ASXL1c.3072A>T (p.Thr1024=)
c.2889A>T (p.Thr963=)
n.5425A>T
c.1869+1203A>T (n.1869+1203A>T)
c.3057A>T (p.Thr1019=)
c.3069A>T (p.Thr1023=)
c.3042A>T (p.Thr1014=)
c.2988A>T (p.Thr996=)
c.2388A>T (p.Thr796=)
c.3336A>T (p.Thr1112=)
c.3333A>T (p.Thr1111=)
c.3252A>T (p.Thr1084=)
c.3183A>T (p.Thr1061=)
c.3051A>T (p.Thr1017=)
c.2919A>T (p.Thr973=)
20g.32435786delCA2577366248ASXL1c.3074del (p.Lys1025ArgfsTer22)
c.2891del (p.Lys964ArgfsTer22)
n.5427del
c.1869+1205del (n.1869+1205del)
c.3059del (p.Lys1020ArgfsTer22)
c.3071del (p.Lys1024ArgfsTer22)
c.3044del (p.Lys1015ArgfsTer22)
c.2990del (p.Lys997ArgfsTer22)
c.2390del (p.Lys797ArgfsTer22)
c.3338del (p.Lys1113ArgfsTer22)
c.3335del (p.Lys1112ArgfsTer22)
c.3254del (p.Lys1085ArgfsTer22)
c.3185del (p.Lys1062ArgfsTer22)
c.3053del (p.Lys1018ArgfsTer22)
c.2921del (p.Lys974ArgfsTer22)
 gnomAD v4
20g.32435785A>CCA408562291ASXL1c.3073A>C (p.Lys1025Gln)
c.2890A>C (p.Lys964Gln)
n.5426A>C
c.1869+1204A>C (n.1869+1204A>C)
c.3058A>C (p.Lys1020Gln)
c.3070A>C (p.Lys1024Gln)
c.3043A>C (p.Lys1015Gln)
c.2989A>C (p.Lys997Gln)
c.2389A>C (p.Lys797Gln)
c.3337A>C (p.Lys1113Gln)
c.3334A>C (p.Lys1112Gln)
c.3253A>C (p.Lys1085Gln)
c.3184A>C (p.Lys1062Gln)
c.3052A>C (p.Lys1018Gln)
c.2920A>C (p.Lys974Gln)
20g.32435785A>GCA408562292ASXL1c.3073A>G (p.Lys1025Glu)
c.2890A>G (p.Lys964Glu)
n.5426A>G
c.1869+1204A>G (n.1869+1204A>G)
c.3058A>G (p.Lys1020Glu)
c.3070A>G (p.Lys1024Glu)
c.3043A>G (p.Lys1015Glu)
c.2989A>G (p.Lys997Glu)
c.2389A>G (p.Lys797Glu)
c.3337A>G (p.Lys1113Glu)
c.3334A>G (p.Lys1112Glu)
c.3253A>G (p.Lys1085Glu)
c.3184A>G (p.Lys1062Glu)
c.3052A>G (p.Lys1018Glu)
c.2920A>G (p.Lys974Glu)
 gnomAD v4
20g.32435785A>TCA408562293ASXL1c.3073A>T (p.Lys1025Ter)
c.2890A>T (p.Lys964Ter)
n.5426A>T
c.1869+1204A>T (n.1869+1204A>T)
c.3058A>T (p.Lys1020Ter)
c.3070A>T (p.Lys1024Ter)
c.3043A>T (p.Lys1015Ter)
c.2989A>T (p.Lys997Ter)
c.2389A>T (p.Lys797Ter)
c.3337A>T (p.Lys1113Ter)
c.3334A>T (p.Lys1112Ter)
c.3253A>T (p.Lys1085Ter)
c.3184A>T (p.Lys1062Ter)
c.3052A>T (p.Lys1018Ter)
c.2920A>T (p.Lys974Ter)
20g.32435786A=CA2360293410ASXL1c.3074A= (p.Lys1025=)
c.2891A= (p.Lys964=)
n.5427A=
c.1869+1205A= (n.1869+1205A=)
c.3059A= (p.Lys1020=)
c.3071A= (p.Lys1024=)
c.3044A= (p.Lys1015=)
c.2990A= (p.Lys997=)
c.2390A= (p.Lys797=)
c.3338A= (p.Lys1113=)
c.3335A= (p.Lys1112=)
c.3254A= (p.Lys1085=)
c.3185A= (p.Lys1062=)
c.3053A= (p.Lys1018=)
c.2921A= (p.Lys974=)
20g.32435786A>CCA408562294ASXL1c.3074A>C (p.Lys1025Thr)
c.2891A>C (p.Lys964Thr)
n.5427A>C
c.1869+1205A>C (n.1869+1205A>C)
c.3059A>C (p.Lys1020Thr)
c.3071A>C (p.Lys1024Thr)
c.3044A>C (p.Lys1015Thr)
c.2990A>C (p.Lys997Thr)
c.2390A>C (p.Lys797Thr)
c.3338A>C (p.Lys1113Thr)
c.3335A>C (p.Lys1112Thr)
c.3254A>C (p.Lys1085Thr)
c.3185A>C (p.Lys1062Thr)
c.3053A>C (p.Lys1018Thr)
c.2921A>C (p.Lys974Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32435786A>GCA408562295ASXL1c.3074A>G (p.Lys1025Arg)
c.2891A>G (p.Lys964Arg)
n.5427A>G
c.1869+1205A>G (n.1869+1205A>G)
c.3059A>G (p.Lys1020Arg)
c.3071A>G (p.Lys1024Arg)
c.3044A>G (p.Lys1015Arg)
c.2990A>G (p.Lys997Arg)
c.2390A>G (p.Lys797Arg)
c.3338A>G (p.Lys1113Arg)
c.3335A>G (p.Lys1112Arg)
c.3254A>G (p.Lys1085Arg)
c.3185A>G (p.Lys1062Arg)
c.3053A>G (p.Lys1018Arg)
c.2921A>G (p.Lys974Arg)
20g.32435786A>TCA408562296ASXL1c.3074A>T (p.Lys1025Met)
c.2891A>T (p.Lys964Met)
n.5427A>T
c.1869+1205A>T (n.1869+1205A>T)
c.3059A>T (p.Lys1020Met)
c.3071A>T (p.Lys1024Met)
c.3044A>T (p.Lys1015Met)
c.2990A>T (p.Lys997Met)
c.2390A>T (p.Lys797Met)
c.3338A>T (p.Lys1113Met)
c.3335A>T (p.Lys1112Met)
c.3254A>T (p.Lys1085Met)
c.3185A>T (p.Lys1062Met)
c.3053A>T (p.Lys1018Met)
c.2921A>T (p.Lys974Met)
20g.32435787G>ACA510466767ASXL1c.3075G>A (p.Lys1025=)
c.2892G>A (p.Lys964=)
n.5428G>A
c.1869+1206G>A (n.1869+1206G>A)
c.3060G>A (p.Lys1020=)
c.3072G>A (p.Lys1024=)
c.3045G>A (p.Lys1015=)
c.2991G>A (p.Lys997=)
c.2391G>A (p.Lys797=)
c.3339G>A (p.Lys1113=)
c.3336G>A (p.Lys1112=)
c.3255G>A (p.Lys1085=)
c.3186G>A (p.Lys1062=)
c.3054G>A (p.Lys1018=)
c.2922G>A (p.Lys974=)
20g.32435787G>CCA408562297ASXL1c.3075G>C (p.Lys1025Asn)
c.2892G>C (p.Lys964Asn)
n.5428G>C
c.1869+1206G>C (n.1869+1206G>C)
c.3060G>C (p.Lys1020Asn)
c.3072G>C (p.Lys1024Asn)
c.3045G>C (p.Lys1015Asn)
c.2991G>C (p.Lys997Asn)
c.2391G>C (p.Lys797Asn)
c.3339G>C (p.Lys1113Asn)
c.3336G>C (p.Lys1112Asn)
c.3255G>C (p.Lys1085Asn)
c.3186G>C (p.Lys1062Asn)
c.3054G>C (p.Lys1018Asn)
c.2922G>C (p.Lys974Asn)
20g.32435787G>TCA408562298ASXL1c.3075G>T (p.Lys1025Asn)
c.2892G>T (p.Lys964Asn)
n.5428G>T
c.1869+1206G>T (n.1869+1206G>T)
c.3060G>T (p.Lys1020Asn)
c.3072G>T (p.Lys1024Asn)
c.3045G>T (p.Lys1015Asn)
c.2991G>T (p.Lys997Asn)
c.2391G>T (p.Lys797Asn)
c.3339G>T (p.Lys1113Asn)
c.3336G>T (p.Lys1112Asn)
c.3255G>T (p.Lys1085Asn)
c.3186G>T (p.Lys1062Asn)
c.3054G>T (p.Lys1018Asn)
c.2922G>T (p.Lys974Asn)
20g.32435789delCA2652401065ASXL1c.3077del (p.Gly1026AspfsTer21)
c.2894del (p.Gly965AspfsTer21)
n.5430del
c.1869+1208del (n.1869+1208del)
c.3062del (p.Gly1021AspfsTer21)
c.3074del (p.Gly1025AspfsTer21)
c.3047del (p.Gly1016AspfsTer21)
c.2993del (p.Gly998AspfsTer21)
c.2393del (p.Gly798AspfsTer21)
c.3341del (p.Gly1114AspfsTer21)
c.3338del (p.Gly1113AspfsTer21)
c.3257del (p.Gly1086AspfsTer21)
c.3188del (p.Gly1063AspfsTer21)
c.3056del (p.Gly1019AspfsTer21)
c.2924del (p.Gly975AspfsTer21)
 gnomAD v4
20g.32435788G>ACA408562299ASXL1c.3076G>A (p.Gly1026Arg)
c.2893G>A (p.Gly965Arg)
n.5429G>A
c.1869+1207G>A (n.1869+1207G>A)
c.3061G>A (p.Gly1021Arg)
c.3073G>A (p.Gly1025Arg)
c.3046G>A (p.Gly1016Arg)
c.2992G>A (p.Gly998Arg)
c.2392G>A (p.Gly798Arg)
c.3340G>A (p.Gly1114Arg)
c.3337G>A (p.Gly1113Arg)
c.3256G>A (p.Gly1086Arg)
c.3187G>A (p.Gly1063Arg)
c.3055G>A (p.Gly1019Arg)
c.2923G>A (p.Gly975Arg)
 dbSNP
20g.32435788G>CCA408562300ASXL1c.3076G>C (p.Gly1026Arg)
c.2893G>C (p.Gly965Arg)
n.5429G>C
c.1869+1207G>C (n.1869+1207G>C)
c.3061G>C (p.Gly1021Arg)
c.3073G>C (p.Gly1025Arg)
c.3046G>C (p.Gly1016Arg)
c.2992G>C (p.Gly998Arg)
c.2392G>C (p.Gly798Arg)
c.3340G>C (p.Gly1114Arg)
c.3337G>C (p.Gly1113Arg)
c.3256G>C (p.Gly1086Arg)
c.3187G>C (p.Gly1063Arg)
c.3055G>C (p.Gly1019Arg)
c.2923G>C (p.Gly975Arg)
20g.32435788G=CA2360293411ASXL1c.3076G= (p.Gly1026=)
c.2893G= (p.Gly965=)
n.5429G=
c.1869+1207G= (n.1869+1207G=)
c.3061G= (p.Gly1021=)
c.3073G= (p.Gly1025=)
c.3046G= (p.Gly1016=)
c.2992G= (p.Gly998=)
c.2392G= (p.Gly798=)
c.3340G= (p.Gly1114=)
c.3337G= (p.Gly1113=)
c.3256G= (p.Gly1086=)
c.3187G= (p.Gly1063=)
c.3055G= (p.Gly1019=)
c.2923G= (p.Gly975=)
20g.32435788G>TCA408562301ASXL1c.3076G>T (p.Gly1026Ter)
c.2893G>T (p.Gly965Ter)
n.5429G>T
c.1869+1207G>T (n.1869+1207G>T)
c.3061G>T (p.Gly1021Ter)
c.3073G>T (p.Gly1025Ter)
c.3046G>T (p.Gly1016Ter)
c.2992G>T (p.Gly998Ter)
c.2392G>T (p.Gly798Ter)
c.3340G>T (p.Gly1114Ter)
c.3337G>T (p.Gly1113Ter)
c.3256G>T (p.Gly1086Ter)
c.3187G>T (p.Gly1063Ter)
c.3055G>T (p.Gly1019Ter)
c.2923G>T (p.Gly975Ter)

Number of alleles fetched