Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33740509_33743845delinsAGAAGCCTAGGTGTACCA2740091793ASXL3c.3042+66_4000delinsAGAAGCCTAGGTGTAC
c.3039+66_3997delinsAGAAGCCTAGGTGTAC
c.2919+66_3877delinsAGAAGCCTAGGTGTAC
c.3015+66_3973delinsAGAAGCCTAGGTGTAC
c.2961+66_3919delinsAGAAGCCTAGGTGTAC
c.2922+66_3880delinsAGAAGCCTAGGTGTAC
c.2871+66_3829delinsAGAAGCCTAGGTGTAC
ClinVar
18g.33742891C>ACA402184063ASXL3c.3046C>A (p.Gln1016Lys)
c.3043C>A (p.Gln1015Lys)
c.*2167C>A (n.*2167C>A)
c.*2702C>A (n.*2702C>A)
c.3255C>A (n.3255C>A)
c.2875C>A (p.Gln959Lys)
c.2923C>A (p.Gln975Lys)
c.3019C>A (p.Gln1007Lys)
c.2965C>A (p.Gln989Lys)
c.2926C>A (p.Gln976Lys)
c.7C>A (p.Gln3Lys)
gnomAD v4
18g.33742891C=CA2294857477ASXL3c.3046C= (p.Gln1016=)
c.3043C= (p.Gln1015=)
c.*2167C= (n.*2167C=)
c.*2702C= (n.*2702C=)
c.3255C= (n.3255C=)
c.2875C= (p.Gln959=)
c.2923C= (p.Gln975=)
c.3019C= (p.Gln1007=)
c.2965C= (p.Gln989=)
c.2926C= (p.Gln976=)
c.7C= (p.Gln3=)
18g.33742891C>GCA402184066ASXL3c.3046C>G (p.Gln1016Glu)
c.3043C>G (p.Gln1015Glu)
c.*2167C>G (n.*2167C>G)
c.*2702C>G (n.*2702C>G)
c.3255C>G (n.3255C>G)
c.2875C>G (p.Gln959Glu)
c.2923C>G (p.Gln975Glu)
c.3019C>G (p.Gln1007Glu)
c.2965C>G (p.Gln989Glu)
c.2926C>G (p.Gln976Glu)
c.7C>G (p.Gln3Glu)
18g.33742891C>TCA16608739ASXL3c.3046C>T (p.Gln1016Ter)
c.3043C>T (p.Gln1015Ter)
c.*2167C>T (n.*2167C>T)
c.*2702C>T (n.*2702C>T)
c.3255C>T (n.3255C>T)
c.2875C>T (p.Gln959Ter)
c.2923C>T (p.Gln975Ter)
c.3019C>T (p.Gln1007Ter)
c.2965C>T (p.Gln989Ter)
c.2926C>T (p.Gln976Ter)
c.7C>T (p.Gln3Ter)
ClinVar dbSNP COSMIC COSMIC
18g.33742892A>CCA402184068ASXL3c.3047A>C (p.Gln1016Pro)
c.3044A>C (p.Gln1015Pro)
c.*2168A>C (n.*2168A>C)
c.*2703A>C (n.*2703A>C)
c.3256A>C (n.3256A>C)
c.2876A>C (p.Gln959Pro)
c.2924A>C (p.Gln975Pro)
c.3020A>C (p.Gln1007Pro)
c.2966A>C (p.Gln989Pro)
c.2927A>C (p.Gln976Pro)
c.8A>C (p.Gln3Pro)
18g.33742892A>GCA402184070ASXL3c.3047A>G (p.Gln1016Arg)
c.3044A>G (p.Gln1015Arg)
c.*2168A>G (n.*2168A>G)
c.*2703A>G (n.*2703A>G)
c.3256A>G (n.3256A>G)
c.2876A>G (p.Gln959Arg)
c.2924A>G (p.Gln975Arg)
c.3020A>G (p.Gln1007Arg)
c.2966A>G (p.Gln989Arg)
c.2927A>G (p.Gln976Arg)
c.8A>G (p.Gln3Arg)
18g.33742892A>TCA402184072ASXL3c.3047A>T (p.Gln1016Leu)
c.3044A>T (p.Gln1015Leu)
c.*2168A>T (n.*2168A>T)
c.*2703A>T (n.*2703A>T)
c.3256A>T (n.3256A>T)
c.2876A>T (p.Gln959Leu)
c.2924A>T (p.Gln975Leu)
c.3020A>T (p.Gln1007Leu)
c.2966A>T (p.Gln989Leu)
c.2927A>T (p.Gln976Leu)
c.8A>T (p.Gln3Leu)
18g.33742893G>ACA503769077ASXL3c.3048G>A (p.Gln1016=)
c.3045G>A (p.Gln1015=)
c.*2169G>A (n.*2169G>A)
c.*2704G>A (n.*2704G>A)
c.3257G>A (n.3257G>A)
c.2877G>A (p.Gln959=)
c.2925G>A (p.Gln975=)
c.3021G>A (p.Gln1007=)
c.2967G>A (p.Gln989=)
c.2928G>A (p.Gln976=)
c.9G>A (p.Gln3=)
gnomAD v4
18g.33742893G>CCA402184075ASXL3c.3048G>C (p.Gln1016His)
c.3045G>C (p.Gln1015His)
c.*2169G>C (n.*2169G>C)
c.*2704G>C (n.*2704G>C)
c.3257G>C (n.3257G>C)
c.2877G>C (p.Gln959His)
c.2925G>C (p.Gln975His)
c.3021G>C (p.Gln1007His)
c.2967G>C (p.Gln989His)
c.2928G>C (p.Gln976His)
c.9G>C (p.Gln3His)
18g.33742893G>TCA402184077ASXL3c.3048G>T (p.Gln1016His)
c.3045G>T (p.Gln1015His)
c.*2169G>T (n.*2169G>T)
c.*2704G>T (n.*2704G>T)
c.3257G>T (n.3257G>T)
c.2877G>T (p.Gln959His)
c.2925G>T (p.Gln975His)
c.3021G>T (p.Gln1007His)
c.2967G>T (p.Gln989His)
c.2928G>T (p.Gln976His)
c.9G>T (p.Gln3His)
18g.33742894C>ACA402184084ASXL3c.3049C>A (p.Leu1017Ile)
c.3046C>A (p.Leu1016Ile)
c.*2170C>A (n.*2170C>A)
c.*2705C>A (n.*2705C>A)
c.3258C>A (n.3258C>A)
c.2878C>A (p.Leu960Ile)
c.2926C>A (p.Leu976Ile)
c.3022C>A (p.Leu1008Ile)
c.2968C>A (p.Leu990Ile)
c.2929C>A (p.Leu977Ile)
c.10C>A (p.Leu4Ile)
18g.33742894C>GCA402184082ASXL3c.3049C>G (p.Leu1017Val)
c.3046C>G (p.Leu1016Val)
c.*2170C>G (n.*2170C>G)
c.*2705C>G (n.*2705C>G)
c.3258C>G (n.3258C>G)
c.2878C>G (p.Leu960Val)
c.2926C>G (p.Leu976Val)
c.3022C>G (p.Leu1008Val)
c.2968C>G (p.Leu990Val)
c.2929C>G (p.Leu977Val)
c.10C>G (p.Leu4Val)
18g.33742894C>TCA402184080ASXL3c.3049C>T (p.Leu1017Phe)
c.3046C>T (p.Leu1016Phe)
c.*2170C>T (n.*2170C>T)
c.*2705C>T (n.*2705C>T)
c.3258C>T (n.3258C>T)
c.2878C>T (p.Leu960Phe)
c.2926C>T (p.Leu976Phe)
c.3022C>T (p.Leu1008Phe)
c.2968C>T (p.Leu990Phe)
c.2929C>T (p.Leu977Phe)
c.10C>T (p.Leu4Phe)
18g.33742894_33742895delinsCTCA2294857478ASXL3c.3049_3050delinsCT (p.Leu1017=)
c.3046_3047delinsCT (p.Leu1016=)
c.*2170_*2171delinsCT (n.*2170_*2171delinsCT)
c.*2705_*2706delinsCT (n.*2705_*2706delinsCT)
c.3258_3259delinsCT (n.3258_3259delinsCT)
c.2878_2879delinsCT (p.Leu960=)
c.2926_2927delinsCT (p.Leu976=)
c.3022_3023delinsCT (p.Leu1008=)
c.2968_2969delinsCT (p.Leu990=)
c.2929_2930delinsCT (p.Leu977=)
c.10_11delinsCT (p.Leu4=)
18g.33742895T>ACA402184087ASXL3c.3050T>A (p.Leu1017His)
c.3047T>A (p.Leu1016His)
c.*2171T>A (n.*2171T>A)
c.*2706T>A (n.*2706T>A)
c.3259T>A (n.3259T>A)
c.2879T>A (p.Leu960His)
c.2927T>A (p.Leu976His)
c.3023T>A (p.Leu1008His)
c.2969T>A (p.Leu990His)
c.2930T>A (p.Leu977His)
c.11T>A (p.Leu4His)
18g.33742895T>CCA402184089ASXL3c.3050T>C (p.Leu1017Pro)
c.3047T>C (p.Leu1016Pro)
c.*2171T>C (n.*2171T>C)
c.*2706T>C (n.*2706T>C)
c.3259T>C (n.3259T>C)
c.2879T>C (p.Leu960Pro)
c.2927T>C (p.Leu976Pro)
c.3023T>C (p.Leu1008Pro)
c.2969T>C (p.Leu990Pro)
c.2930T>C (p.Leu977Pro)
c.11T>C (p.Leu4Pro)
dbSNP
18g.33742895T>GCA402184091ASXL3c.3050T>G (p.Leu1017Arg)
c.3047T>G (p.Leu1016Arg)
c.*2171T>G (n.*2171T>G)
c.*2706T>G (n.*2706T>G)
c.3259T>G (n.3259T>G)
c.2879T>G (p.Leu960Arg)
c.2927T>G (p.Leu976Arg)
c.3023T>G (p.Leu1008Arg)
c.2969T>G (p.Leu990Arg)
c.2930T>G (p.Leu977Arg)
c.11T>G (p.Leu4Arg)
18g.33742895T=CA2294857479ASXL3c.3050T= (p.Leu1017=)
c.3047T= (p.Leu1016=)
c.*2171T= (n.*2171T=)
c.*2706T= (n.*2706T=)
c.3259T= (n.3259T=)
c.2879T= (p.Leu960=)
c.2927T= (p.Leu976=)
c.3023T= (p.Leu1008=)
c.2969T= (p.Leu990=)
c.2930T= (p.Leu977=)
c.11T= (p.Leu4=)
18g.33742897delCA2294857480ASXL3c.3052del (p.Ser1018ProfsTer8)
c.3049del (p.Ser1017ProfsTer8)
c.*2173del (n.*2173del)
c.*2708del (n.*2708del)
c.3261del (n.3261del)
c.2881del (p.Ser961ProfsTer8)
c.2929del (p.Ser977ProfsTer8)
c.3025del (p.Ser1009ProfsTer8)
c.2971del (p.Ser991ProfsTer8)
c.2932del (p.Ser978ProfsTer8)
c.13del (p.Ser5ProfsTer8)
ClinVar dbSNP
18g.33742896T>ACA503769082ASXL3c.3051T>A (p.Leu1017=)
c.3048T>A (p.Leu1016=)
c.*2172T>A (n.*2172T>A)
c.*2707T>A (n.*2707T>A)
c.3260T>A (n.3260T>A)
c.2880T>A (p.Leu960=)
c.2928T>A (p.Leu976=)
c.3024T>A (p.Leu1008=)
c.2970T>A (p.Leu990=)
c.2931T>A (p.Leu977=)
c.12T>A (p.Leu4=)
18g.33742896T>CCA503769083ASXL3c.3051T>C (p.Leu1017=)
c.3048T>C (p.Leu1016=)
c.*2172T>C (n.*2172T>C)
c.*2707T>C (n.*2707T>C)
c.3260T>C (n.3260T>C)
c.2880T>C (p.Leu960=)
c.2928T>C (p.Leu976=)
c.3024T>C (p.Leu1008=)
c.2970T>C (p.Leu990=)
c.2931T>C (p.Leu977=)
c.12T>C (p.Leu4=)
18g.33742896T>GCA503769084ASXL3c.3051T>G (p.Leu1017=)
c.3048T>G (p.Leu1016=)
c.*2172T>G (n.*2172T>G)
c.*2707T>G (n.*2707T>G)
c.3260T>G (n.3260T>G)
c.2880T>G (p.Leu960=)
c.2928T>G (p.Leu976=)
c.3024T>G (p.Leu1008=)
c.2970T>G (p.Leu990=)
c.2931T>G (p.Leu977=)
c.12T>G (p.Leu4=)
18g.33742897T>ACA402184094ASXL3c.3052T>A (p.Ser1018Thr)
c.3049T>A (p.Ser1017Thr)
c.*2173T>A (n.*2173T>A)
c.*2708T>A (n.*2708T>A)
c.3261T>A (n.3261T>A)
c.2881T>A (p.Ser961Thr)
c.2929T>A (p.Ser977Thr)
c.3025T>A (p.Ser1009Thr)
c.2971T>A (p.Ser991Thr)
c.2932T>A (p.Ser978Thr)
c.13T>A (p.Ser5Thr)
18g.33742897T>CCA402184096ASXL3c.3052T>C (p.Ser1018Pro)
c.3049T>C (p.Ser1017Pro)
c.*2173T>C (n.*2173T>C)
c.*2708T>C (n.*2708T>C)
c.3261T>C (n.3261T>C)
c.2881T>C (p.Ser961Pro)
c.2929T>C (p.Ser977Pro)
c.3025T>C (p.Ser1009Pro)
c.2971T>C (p.Ser991Pro)
c.2932T>C (p.Ser978Pro)
c.13T>C (p.Ser5Pro)
18g.33742897T>GCA402184097ASXL3c.3052T>G (p.Ser1018Ala)
c.3049T>G (p.Ser1017Ala)
c.*2173T>G (n.*2173T>G)
c.*2708T>G (n.*2708T>G)
c.3261T>G (n.3261T>G)
c.2881T>G (p.Ser961Ala)
c.2929T>G (p.Ser977Ala)
c.3025T>G (p.Ser1009Ala)
c.2971T>G (p.Ser991Ala)
c.2932T>G (p.Ser978Ala)
c.13T>G (p.Ser5Ala)
18g.33742898C>ACA402184100ASXL3c.3053C>A (p.Ser1018Tyr)
c.3050C>A (p.Ser1017Tyr)
c.*2174C>A (n.*2174C>A)
c.*2709C>A (n.*2709C>A)
c.3262C>A (n.3262C>A)
c.2882C>A (p.Ser961Tyr)
c.2930C>A (p.Ser977Tyr)
c.3026C>A (p.Ser1009Tyr)
c.2972C>A (p.Ser991Tyr)
c.2933C>A (p.Ser978Tyr)
c.14C>A (p.Ser5Tyr)
18g.33742898C>GCA402184102ASXL3c.3053C>G (p.Ser1018Cys)
c.3050C>G (p.Ser1017Cys)
c.*2174C>G (n.*2174C>G)
c.*2709C>G (n.*2709C>G)
c.3262C>G (n.3262C>G)
c.2882C>G (p.Ser961Cys)
c.2930C>G (p.Ser977Cys)
c.3026C>G (p.Ser1009Cys)
c.2972C>G (p.Ser991Cys)
c.2933C>G (p.Ser978Cys)
c.14C>G (p.Ser5Cys)
18g.33742898C>TCA402184104ASXL3c.3053C>T (p.Ser1018Phe)
c.3050C>T (p.Ser1017Phe)
c.*2174C>T (n.*2174C>T)
c.*2709C>T (n.*2709C>T)
c.3262C>T (n.3262C>T)
c.2882C>T (p.Ser961Phe)
c.2930C>T (p.Ser977Phe)
c.3026C>T (p.Ser1009Phe)
c.2972C>T (p.Ser991Phe)
c.2933C>T (p.Ser978Phe)
c.14C>T (p.Ser5Phe)
COSMIC COSMIC
18g.33742899C>ACA503769086ASXL3c.3054C>A (p.Ser1018=)
c.3051C>A (p.Ser1017=)
c.*2175C>A (n.*2175C>A)
c.*2710C>A (n.*2710C>A)
c.3263C>A (n.3263C>A)
c.2883C>A (p.Ser961=)
c.2931C>A (p.Ser977=)
c.3027C>A (p.Ser1009=)
c.2973C>A (p.Ser991=)
c.2934C>A (p.Ser978=)
c.15C>A (p.Ser5=)
18g.33742899C>GCA503769087ASXL3c.3054C>G (p.Ser1018=)
c.3051C>G (p.Ser1017=)
c.*2175C>G (n.*2175C>G)
c.*2710C>G (n.*2710C>G)
c.3263C>G (n.3263C>G)
c.2883C>G (p.Ser961=)
c.2931C>G (p.Ser977=)
c.3027C>G (p.Ser1009=)
c.2973C>G (p.Ser991=)
c.2934C>G (p.Ser978=)
c.15C>G (p.Ser5=)
18g.33742899C>TCA503769088ASXL3c.3054C>T (p.Ser1018=)
c.3051C>T (p.Ser1017=)
c.*2175C>T (n.*2175C>T)
c.*2710C>T (n.*2710C>T)
c.3263C>T (n.3263C>T)
c.2883C>T (p.Ser961=)
c.2931C>T (p.Ser977=)
c.3027C>T (p.Ser1009=)
c.2973C>T (p.Ser991=)
c.2934C>T (p.Ser978=)
c.15C>T (p.Ser5=)
18g.33742900A>CCA402184107ASXL3c.3055A>C (p.Lys1019Gln)
c.3052A>C (p.Lys1018Gln)
c.*2176A>C (n.*2176A>C)
c.*2711A>C (n.*2711A>C)
c.3264A>C (n.3264A>C)
c.2884A>C (p.Lys962Gln)
c.2932A>C (p.Lys978Gln)
c.3028A>C (p.Lys1010Gln)
c.2974A>C (p.Lys992Gln)
c.2935A>C (p.Lys979Gln)
c.16A>C (p.Lys6Gln)
18g.33742900A>GCA402184109ASXL3c.3055A>G (p.Lys1019Glu)
c.3052A>G (p.Lys1018Glu)
c.*2176A>G (n.*2176A>G)
c.*2711A>G (n.*2711A>G)
c.3264A>G (n.3264A>G)
c.2884A>G (p.Lys962Glu)
c.2932A>G (p.Lys978Glu)
c.3028A>G (p.Lys1010Glu)
c.2974A>G (p.Lys992Glu)
c.2935A>G (p.Lys979Glu)
c.16A>G (p.Lys6Glu)
18g.33742900A>TCA402184111ASXL3c.3055A>T (p.Lys1019Ter)
c.3052A>T (p.Lys1018Ter)
c.*2176A>T (n.*2176A>T)
c.*2711A>T (n.*2711A>T)
c.3264A>T (n.3264A>T)
c.2884A>T (p.Lys962Ter)
c.2932A>T (p.Lys978Ter)
c.3028A>T (p.Lys1010Ter)
c.2974A>T (p.Lys992Ter)
c.2935A>T (p.Lys979Ter)
c.16A>T (p.Lys6Ter)
18g.33742901A=CA2294857481ASXL3c.3056A= (p.Lys1019=)
c.3053A= (p.Lys1018=)
c.*2177A= (n.*2177A=)
c.*2712A= (n.*2712A=)
c.3265A= (n.3265A=)
c.2885A= (p.Lys962=)
c.2933A= (p.Lys978=)
c.3029A= (p.Lys1010=)
c.2975A= (p.Lys992=)
c.2936A= (p.Lys979=)
c.17A= (p.Lys6=)
18g.33742901A>CCA8934017ASXL3c.3056A>C (p.Lys1019Thr)
c.3053A>C (p.Lys1018Thr)
c.*2177A>C (n.*2177A>C)
c.*2712A>C (n.*2712A>C)
c.3265A>C (n.3265A>C)
c.2885A>C (p.Lys962Thr)
c.2933A>C (p.Lys978Thr)
c.3029A>C (p.Lys1010Thr)
c.2975A>C (p.Lys992Thr)
c.2936A>C (p.Lys979Thr)
c.17A>C (p.Lys6Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33742901A>GCA402184116ASXL3c.3056A>G (p.Lys1019Arg)
c.3053A>G (p.Lys1018Arg)
c.*2177A>G (n.*2177A>G)
c.*2712A>G (n.*2712A>G)
c.3265A>G (n.3265A>G)
c.2885A>G (p.Lys962Arg)
c.2933A>G (p.Lys978Arg)
c.3029A>G (p.Lys1010Arg)
c.2975A>G (p.Lys992Arg)
c.2936A>G (p.Lys979Arg)
c.17A>G (p.Lys6Arg)
gnomAD v4
18g.33742901A>TCA402184113ASXL3c.3056A>T (p.Lys1019Ile)
c.3053A>T (p.Lys1018Ile)
c.*2177A>T (n.*2177A>T)
c.*2712A>T (n.*2712A>T)
c.3265A>T (n.3265A>T)
c.2885A>T (p.Lys962Ile)
c.2933A>T (p.Lys978Ile)
c.3029A>T (p.Lys1010Ile)
c.2975A>T (p.Lys992Ile)
c.2936A>T (p.Lys979Ile)
c.17A>T (p.Lys6Ile)
COSMIC COSMIC
18g.33742902A>CCA402184121ASXL3c.3057A>C (p.Lys1019Asn)
c.3054A>C (p.Lys1018Asn)
c.*2178A>C (n.*2178A>C)
c.*2713A>C (n.*2713A>C)
c.3266A>C (n.3266A>C)
c.2886A>C (p.Lys962Asn)
c.2934A>C (p.Lys978Asn)
c.3030A>C (p.Lys1010Asn)
c.2976A>C (p.Lys992Asn)
c.2937A>C (p.Lys979Asn)
c.18A>C (p.Lys6Asn)
18g.33742902A>GCA503769092ASXL3c.3057A>G (p.Lys1019=)
c.3054A>G (p.Lys1018=)
c.*2178A>G (n.*2178A>G)
c.*2713A>G (n.*2713A>G)
c.3266A>G (n.3266A>G)
c.2886A>G (p.Lys962=)
c.2934A>G (p.Lys978=)
c.3030A>G (p.Lys1010=)
c.2976A>G (p.Lys992=)
c.2937A>G (p.Lys979=)
c.18A>G (p.Lys6=)
18g.33742902A>TCA402184123ASXL3c.3057A>T (p.Lys1019Asn)
c.3054A>T (p.Lys1018Asn)
c.*2178A>T (n.*2178A>T)
c.*2713A>T (n.*2713A>T)
c.3266A>T (n.3266A>T)
c.2886A>T (p.Lys962Asn)
c.2934A>T (p.Lys978Asn)
c.3030A>T (p.Lys1010Asn)
c.2976A>T (p.Lys992Asn)
c.2937A>T (p.Lys979Asn)
c.18A>T (p.Lys6Asn)
COSMIC COSMIC
18g.33742903A>CCA402184125ASXL3c.3058A>C (p.Ile1020Leu)
c.3055A>C (p.Ile1019Leu)
c.*2179A>C (n.*2179A>C)
c.*2714A>C (n.*2714A>C)
c.3267A>C (n.3267A>C)
c.2887A>C (p.Ile963Leu)
c.2935A>C (p.Ile979Leu)
c.3031A>C (p.Ile1011Leu)
c.2977A>C (p.Ile993Leu)
c.2938A>C (p.Ile980Leu)
c.19A>C (p.Ile7Leu)
18g.33742903A>GCA402184128ASXL3c.3058A>G (p.Ile1020Val)
c.3055A>G (p.Ile1019Val)
c.*2179A>G (n.*2179A>G)
c.*2714A>G (n.*2714A>G)
c.3267A>G (n.3267A>G)
c.2887A>G (p.Ile963Val)
c.2935A>G (p.Ile979Val)
c.3031A>G (p.Ile1011Val)
c.2977A>G (p.Ile993Val)
c.2938A>G (p.Ile980Val)
c.19A>G (p.Ile7Val)
18g.33742903A>TCA402184130ASXL3c.3058A>T (p.Ile1020Phe)
c.3055A>T (p.Ile1019Phe)
c.*2179A>T (n.*2179A>T)
c.*2714A>T (n.*2714A>T)
c.3267A>T (n.3267A>T)
c.2887A>T (p.Ile963Phe)
c.2935A>T (p.Ile979Phe)
c.3031A>T (p.Ile1011Phe)
c.2977A>T (p.Ile993Phe)
c.2938A>T (p.Ile980Phe)
c.19A>T (p.Ile7Phe)
18g.33742904T>ACA402184133ASXL3c.3059T>A (p.Ile1020Asn)
c.3056T>A (p.Ile1019Asn)
c.*2180T>A (n.*2180T>A)
c.*2715T>A (n.*2715T>A)
c.3268T>A (n.3268T>A)
c.2888T>A (p.Ile963Asn)
c.2936T>A (p.Ile979Asn)
c.3032T>A (p.Ile1011Asn)
c.2978T>A (p.Ile993Asn)
c.2939T>A (p.Ile980Asn)
c.20T>A (p.Ile7Asn)
18g.33742904T>CCA402184135ASXL3c.3059T>C (p.Ile1020Thr)
c.3056T>C (p.Ile1019Thr)
c.*2180T>C (n.*2180T>C)
c.*2715T>C (n.*2715T>C)
c.3268T>C (n.3268T>C)
c.2888T>C (p.Ile963Thr)
c.2936T>C (p.Ile979Thr)
c.3032T>C (p.Ile1011Thr)
c.2978T>C (p.Ile993Thr)
c.2939T>C (p.Ile980Thr)
c.20T>C (p.Ile7Thr)
dbSNP gnomAD v3 gnomAD v4
18g.33742904T>GCA402184137ASXL3c.3059T>G (p.Ile1020Ser)
c.3056T>G (p.Ile1019Ser)
c.*2180T>G (n.*2180T>G)
c.*2715T>G (n.*2715T>G)
c.3268T>G (n.3268T>G)
c.2888T>G (p.Ile963Ser)
c.2936T>G (p.Ile979Ser)
c.3032T>G (p.Ile1011Ser)
c.2978T>G (p.Ile993Ser)
c.2939T>G (p.Ile980Ser)
c.20T>G (p.Ile7Ser)
18g.33742904T=CA2294857482ASXL3c.3059T= (p.Ile1020=)
c.3056T= (p.Ile1019=)
c.*2180T= (n.*2180T=)
c.*2715T= (n.*2715T=)
c.3268T= (n.3268T=)
c.2888T= (p.Ile963=)
c.2936T= (p.Ile979=)
c.3032T= (p.Ile1011=)
c.2978T= (p.Ile993=)
c.2939T= (p.Ile980=)
c.20T= (p.Ile7=)
18g.33742905T>ACA503769095ASXL3c.3060T>A (p.Ile1020=)
c.3057T>A (p.Ile1019=)
c.*2181T>A (n.*2181T>A)
c.*2716T>A (n.*2716T>A)
c.3269T>A (n.3269T>A)
c.2889T>A (p.Ile963=)
c.2937T>A (p.Ile979=)
c.3033T>A (p.Ile1011=)
c.2979T>A (p.Ile993=)
c.2940T>A (p.Ile980=)
c.21T>A (p.Ile7=)
18g.33742905T>CCA503769096ASXL3c.3060T>C (p.Ile1020=)
c.3057T>C (p.Ile1019=)
c.*2181T>C (n.*2181T>C)
c.*2716T>C (n.*2716T>C)
c.3269T>C (n.3269T>C)
c.2889T>C (p.Ile963=)
c.2937T>C (p.Ile979=)
c.3033T>C (p.Ile1011=)
c.2979T>C (p.Ile993=)
c.2940T>C (p.Ile980=)
c.21T>C (p.Ile7=)
18g.33742905T>GCA402184139ASXL3c.3060T>G (p.Ile1020Met)
c.3057T>G (p.Ile1019Met)
c.*2181T>G (n.*2181T>G)
c.*2716T>G (n.*2716T>G)
c.3269T>G (n.3269T>G)
c.2889T>G (p.Ile963Met)
c.2937T>G (p.Ile979Met)
c.3033T>G (p.Ile1011Met)
c.2979T>G (p.Ile993Met)
c.2940T>G (p.Ile980Met)
c.21T>G (p.Ile7Met)
18g.33742906G>ACA402184142ASXL3c.3061G>A (p.Gly1021Arg)
c.3058G>A (p.Gly1020Arg)
c.*2182G>A (n.*2182G>A)
c.*2717G>A (n.*2717G>A)
c.3270G>A (n.3270G>A)
c.2890G>A (p.Gly964Arg)
c.2938G>A (p.Gly980Arg)
c.3034G>A (p.Gly1012Arg)
c.2980G>A (p.Gly994Arg)
c.2941G>A (p.Gly981Arg)
c.22G>A (p.Gly8Arg)
18g.33742906G>CCA402184143ASXL3c.3061G>C (p.Gly1021Arg)
c.3058G>C (p.Gly1020Arg)
c.*2182G>C (n.*2182G>C)
c.*2717G>C (n.*2717G>C)
c.3270G>C (n.3270G>C)
c.2890G>C (p.Gly964Arg)
c.2938G>C (p.Gly980Arg)
c.3034G>C (p.Gly1012Arg)
c.2980G>C (p.Gly994Arg)
c.2941G>C (p.Gly981Arg)
c.22G>C (p.Gly8Arg)
gnomAD v4
18g.33742906G>TCA402184145ASXL3c.3061G>T (p.Gly1021Trp)
c.3058G>T (p.Gly1020Trp)
c.*2182G>T (n.*2182G>T)
c.*2717G>T (n.*2717G>T)
c.3270G>T (n.3270G>T)
c.2890G>T (p.Gly964Trp)
c.2938G>T (p.Gly980Trp)
c.3034G>T (p.Gly1012Trp)
c.2980G>T (p.Gly994Trp)
c.2941G>T (p.Gly981Trp)
c.22G>T (p.Gly8Trp)
gnomAD v4
18g.33742907G>ACA402184148ASXL3c.3062G>A (p.Gly1021Glu)
c.3059G>A (p.Gly1020Glu)
c.*2183G>A (n.*2183G>A)
c.*2718G>A (n.*2718G>A)
c.3271G>A (n.3271G>A)
c.2891G>A (p.Gly964Glu)
c.2939G>A (p.Gly980Glu)
c.3035G>A (p.Gly1012Glu)
c.2981G>A (p.Gly994Glu)
c.2942G>A (p.Gly981Glu)
c.23G>A (p.Gly8Glu)
COSMIC COSMIC
18g.33742907G>CCA402184149ASXL3c.3062G>C (p.Gly1021Ala)
c.3059G>C (p.Gly1020Ala)
c.*2183G>C (n.*2183G>C)
c.*2718G>C (n.*2718G>C)
c.3271G>C (n.3271G>C)
c.2891G>C (p.Gly964Ala)
c.2939G>C (p.Gly980Ala)
c.3035G>C (p.Gly1012Ala)
c.2981G>C (p.Gly994Ala)
c.2942G>C (p.Gly981Ala)
c.23G>C (p.Gly8Ala)
18g.33742907G>TCA402184151ASXL3c.3062G>T (p.Gly1021Val)
c.3059G>T (p.Gly1020Val)
c.*2183G>T (n.*2183G>T)
c.*2718G>T (n.*2718G>T)
c.3271G>T (n.3271G>T)
c.2891G>T (p.Gly964Val)
c.2939G>T (p.Gly980Val)
c.3035G>T (p.Gly1012Val)
c.2981G>T (p.Gly994Val)
c.2942G>T (p.Gly981Val)
c.23G>T (p.Gly8Val)
gnomAD v4
18g.33742908G>ACA503769100ASXL3c.3063G>A (p.Gly1021=)
c.3060G>A (p.Gly1020=)
c.*2184G>A (n.*2184G>A)
c.*2719G>A (n.*2719G>A)
c.3272G>A (n.3272G>A)
c.2892G>A (p.Gly964=)
c.2940G>A (p.Gly980=)
c.3036G>A (p.Gly1012=)
c.2982G>A (p.Gly994=)
c.2943G>A (p.Gly981=)
c.24G>A (p.Gly8=)
gnomAD v4
18g.33742908G>CCA503769102ASXL3c.3063G>C (p.Gly1021=)
c.3060G>C (p.Gly1020=)
c.*2184G>C (n.*2184G>C)
c.*2719G>C (n.*2719G>C)
c.3272G>C (n.3272G>C)
c.2892G>C (p.Gly964=)
c.2940G>C (p.Gly980=)
c.3036G>C (p.Gly1012=)
c.2982G>C (p.Gly994=)
c.2943G>C (p.Gly981=)
c.24G>C (p.Gly8=)
18g.33742908G>TCA503769101ASXL3c.3063G>T (p.Gly1021=)
c.3060G>T (p.Gly1020=)
c.*2184G>T (n.*2184G>T)
c.*2719G>T (n.*2719G>T)
c.3272G>T (n.3272G>T)
c.2892G>T (p.Gly964=)
c.2940G>T (p.Gly980=)
c.3036G>T (p.Gly1012=)
c.2982G>T (p.Gly994=)
c.2943G>T (p.Gly981=)
c.24G>T (p.Gly8=)
gnomAD v4
18g.33742909C>ACA402184155ASXL3c.3064C>A (p.Pro1022Thr)
c.3061C>A (p.Pro1021Thr)
c.*2185C>A (n.*2185C>A)
c.*2720C>A (n.*2720C>A)
c.3273C>A (n.3273C>A)
c.2893C>A (p.Pro965Thr)
c.2941C>A (p.Pro981Thr)
c.3037C>A (p.Pro1013Thr)
c.2983C>A (p.Pro995Thr)
c.2944C>A (p.Pro982Thr)
c.25C>A (p.Pro9Thr)
gnomAD v4
18g.33742909C>GCA402184159ASXL3c.3064C>G (p.Pro1022Ala)
c.3061C>G (p.Pro1021Ala)
c.*2185C>G (n.*2185C>G)
c.*2720C>G (n.*2720C>G)
c.3273C>G (n.3273C>G)
c.2893C>G (p.Pro965Ala)
c.2941C>G (p.Pro981Ala)
c.3037C>G (p.Pro1013Ala)
c.2983C>G (p.Pro995Ala)
c.2944C>G (p.Pro982Ala)
c.25C>G (p.Pro9Ala)
18g.33742909C>TCA402184157ASXL3c.3064C>T (p.Pro1022Ser)
c.3061C>T (p.Pro1021Ser)
c.*2185C>T (n.*2185C>T)
c.*2720C>T (n.*2720C>T)
c.3273C>T (n.3273C>T)
c.2893C>T (p.Pro965Ser)
c.2941C>T (p.Pro981Ser)
c.3037C>T (p.Pro1013Ser)
c.2983C>T (p.Pro995Ser)
c.2944C>T (p.Pro982Ser)
c.25C>T (p.Pro9Ser)
18g.33742910C>ACA402184162ASXL3c.3065C>A (p.Pro1022Gln)
c.3062C>A (p.Pro1021Gln)
c.*2186C>A (n.*2186C>A)
c.*2721C>A (n.*2721C>A)
c.3274C>A (n.3274C>A)
c.2894C>A (p.Pro965Gln)
c.2942C>A (p.Pro981Gln)
c.3038C>A (p.Pro1013Gln)
c.2984C>A (p.Pro995Gln)
c.2945C>A (p.Pro982Gln)
c.26C>A (p.Pro9Gln)
18g.33742910C=CA2294857483ASXL3c.3065C= (p.Pro1022=)
c.3062C= (p.Pro1021=)
c.*2186C= (n.*2186C=)
c.*2721C= (n.*2721C=)
c.3274C= (n.3274C=)
c.2894C= (p.Pro965=)
c.2942C= (p.Pro981=)
c.3038C= (p.Pro1013=)
c.2984C= (p.Pro995=)
c.2945C= (p.Pro982=)
c.26C= (p.Pro9=)
18g.33742910C>GCA402184164ASXL3c.3065C>G (p.Pro1022Arg)
c.3062C>G (p.Pro1021Arg)
c.*2186C>G (n.*2186C>G)
c.*2721C>G (n.*2721C>G)
c.3274C>G (n.3274C>G)
c.2894C>G (p.Pro965Arg)
c.2942C>G (p.Pro981Arg)
c.3038C>G (p.Pro1013Arg)
c.2984C>G (p.Pro995Arg)
c.2945C>G (p.Pro982Arg)
c.26C>G (p.Pro9Arg)
18g.33742910C>TCA402184166ASXL3c.3065C>T (p.Pro1022Leu)
c.3062C>T (p.Pro1021Leu)
c.*2186C>T (n.*2186C>T)
c.*2721C>T (n.*2721C>T)
c.3274C>T (n.3274C>T)
c.2894C>T (p.Pro965Leu)
c.2942C>T (p.Pro981Leu)
c.3038C>T (p.Pro1013Leu)
c.2984C>T (p.Pro995Leu)
c.2945C>T (p.Pro982Leu)
c.26C>T (p.Pro9Leu)
dbSNP gnomAD v3 gnomAD v4
18g.33742911A>CCA503769109ASXL3c.3066A>C (p.Pro1022=)
c.3063A>C (p.Pro1021=)
c.*2187A>C (n.*2187A>C)
c.*2722A>C (n.*2722A>C)
c.3275A>C (n.3275A>C)
c.2895A>C (p.Pro965=)
c.2943A>C (p.Pro981=)
c.3039A>C (p.Pro1013=)
c.2985A>C (p.Pro995=)
c.2946A>C (p.Pro982=)
c.27A>C (p.Pro9=)
gnomAD v4
18g.33742911A>GCA503769108ASXL3c.3066A>G (p.Pro1022=)
c.3063A>G (p.Pro1021=)
c.*2187A>G (n.*2187A>G)
c.*2722A>G (n.*2722A>G)
c.3275A>G (n.3275A>G)
c.2895A>G (p.Pro965=)
c.2943A>G (p.Pro981=)
c.3039A>G (p.Pro1013=)
c.2985A>G (p.Pro995=)
c.2946A>G (p.Pro982=)
c.27A>G (p.Pro9=)
gnomAD v4
18g.33742911A>TCA503769107ASXL3c.3066A>T (p.Pro1022=)
c.3063A>T (p.Pro1021=)
c.*2187A>T (n.*2187A>T)
c.*2722A>T (n.*2722A>T)
c.3275A>T (n.3275A>T)
c.2895A>T (p.Pro965=)
c.2943A>T (p.Pro981=)
c.3039A>T (p.Pro1013=)
c.2985A>T (p.Pro995=)
c.2946A>T (p.Pro982=)
c.27A>T (p.Pro9=)
18g.33742912C>ACA402184169ASXL3c.3067C>A (p.Pro1023Thr)
c.3064C>A (p.Pro1022Thr)
c.*2188C>A (n.*2188C>A)
c.*2723C>A (n.*2723C>A)
c.3276C>A (n.3276C>A)
c.2896C>A (p.Pro966Thr)
c.2944C>A (p.Pro982Thr)
c.3040C>A (p.Pro1014Thr)
c.2986C>A (p.Pro996Thr)
c.2947C>A (p.Pro983Thr)
c.28C>A (p.Pro10Thr)
18g.33742912C>GCA402184171ASXL3c.3067C>G (p.Pro1023Ala)
c.3064C>G (p.Pro1022Ala)
c.*2188C>G (n.*2188C>G)
c.*2723C>G (n.*2723C>G)
c.3276C>G (n.3276C>G)
c.2896C>G (p.Pro966Ala)
c.2944C>G (p.Pro982Ala)
c.3040C>G (p.Pro1014Ala)
c.2986C>G (p.Pro996Ala)
c.2947C>G (p.Pro983Ala)
c.28C>G (p.Pro10Ala)
18g.33742912C>TCA402184173ASXL3c.3067C>T (p.Pro1023Ser)
c.3064C>T (p.Pro1022Ser)
c.*2188C>T (n.*2188C>T)
c.*2723C>T (n.*2723C>T)
c.3276C>T (n.3276C>T)
c.2896C>T (p.Pro966Ser)
c.2944C>T (p.Pro982Ser)
c.3040C>T (p.Pro1014Ser)
c.2986C>T (p.Pro996Ser)
c.2947C>T (p.Pro983Ser)
c.28C>T (p.Pro10Ser)
18g.33742913delCA1139666025ASXL3c.3068del (p.Pro1023LeufsTer3)
c.3065del (p.Pro1022LeufsTer3)
c.*2189del (n.*2189del)
c.*2724del (n.*2724del)
c.3277del (n.3277del)
c.2897del (p.Pro966LeufsTer3)
c.2945del (p.Pro982LeufsTer3)
c.3041del (p.Pro1014LeufsTer3)
c.2987del (p.Pro996LeufsTer3)
c.2948del (p.Pro983LeufsTer3)
c.29del (p.Pro10LeufsTer3)
ClinVar
18g.33742913C>ACA402184177ASXL3c.3068C>A (p.Pro1023His)
c.3065C>A (p.Pro1022His)
c.*2189C>A (n.*2189C>A)
c.*2724C>A (n.*2724C>A)
c.3277C>A (n.3277C>A)
c.2897C>A (p.Pro966His)
c.2945C>A (p.Pro982His)
c.3041C>A (p.Pro1014His)
c.2987C>A (p.Pro996His)
c.2948C>A (p.Pro983His)
c.29C>A (p.Pro10His)
18g.33742913C>GCA402184179ASXL3c.3068C>G (p.Pro1023Arg)
c.3065C>G (p.Pro1022Arg)
c.*2189C>G (n.*2189C>G)
c.*2724C>G (n.*2724C>G)
c.3277C>G (n.3277C>G)
c.2897C>G (p.Pro966Arg)
c.2945C>G (p.Pro982Arg)
c.3041C>G (p.Pro1014Arg)
c.2987C>G (p.Pro996Arg)
c.2948C>G (p.Pro983Arg)
c.29C>G (p.Pro10Arg)
18g.33742913C>TCA402184180ASXL3c.3068C>T (p.Pro1023Leu)
c.3065C>T (p.Pro1022Leu)
c.*2189C>T (n.*2189C>T)
c.*2724C>T (n.*2724C>T)
c.3277C>T (n.3277C>T)
c.2897C>T (p.Pro966Leu)
c.2945C>T (p.Pro982Leu)
c.3041C>T (p.Pro1014Leu)
c.2987C>T (p.Pro996Leu)
c.2948C>T (p.Pro983Leu)
c.29C>T (p.Pro10Leu)
dbSNP gnomAD v4 COSMIC COSMIC
18g.33742914T>ACA503769112ASXL3c.3069T>A (p.Pro1023=)
c.3066T>A (p.Pro1022=)
c.*2190T>A (n.*2190T>A)
c.*2725T>A (n.*2725T>A)
c.3278T>A (n.3278T>A)
c.2898T>A (p.Pro966=)
c.2946T>A (p.Pro982=)
c.3042T>A (p.Pro1014=)
c.2988T>A (p.Pro996=)
c.2949T>A (p.Pro983=)
c.30T>A (p.Pro10=)
18g.33742914T>CCA503769115ASXL3c.3069T>C (p.Pro1023=)
c.3066T>C (p.Pro1022=)
c.*2190T>C (n.*2190T>C)
c.*2725T>C (n.*2725T>C)
c.3278T>C (n.3278T>C)
c.2898T>C (p.Pro966=)
c.2946T>C (p.Pro982=)
c.3042T>C (p.Pro1014=)
c.2988T>C (p.Pro996=)
c.2949T>C (p.Pro983=)
c.30T>C (p.Pro10=)
18g.33742914T>GCA503769113ASXL3c.3069T>G (p.Pro1023=)
c.3066T>G (p.Pro1022=)
c.*2190T>G (n.*2190T>G)
c.*2725T>G (n.*2725T>G)
c.3278T>G (n.3278T>G)
c.2898T>G (p.Pro966=)
c.2946T>G (p.Pro982=)
c.3042T>G (p.Pro1014=)
c.2988T>G (p.Pro996=)
c.2949T>G (p.Pro983=)
c.30T>G (p.Pro10=)
18g.33742915T>ACA402184182ASXL3c.3070T>A (p.Phe1024Ile)
c.3067T>A (p.Phe1023Ile)
c.*2191T>A (n.*2191T>A)
c.*2726T>A (n.*2726T>A)
c.3279T>A (n.3279T>A)
c.2899T>A (p.Phe967Ile)
c.2947T>A (p.Phe983Ile)
c.3043T>A (p.Phe1015Ile)
c.2989T>A (p.Phe997Ile)
c.2950T>A (p.Phe984Ile)
c.31T>A (p.Phe11Ile)
18g.33742915T>CCA402184184ASXL3c.3070T>C (p.Phe1024Leu)
c.3067T>C (p.Phe1023Leu)
c.*2191T>C (n.*2191T>C)
c.*2726T>C (n.*2726T>C)
c.3279T>C (n.3279T>C)
c.2899T>C (p.Phe967Leu)
c.2947T>C (p.Phe983Leu)
c.3043T>C (p.Phe1015Leu)
c.2989T>C (p.Phe997Leu)
c.2950T>C (p.Phe984Leu)
c.31T>C (p.Phe11Leu)
18g.33742915T>GCA402184187ASXL3c.3070T>G (p.Phe1024Val)
c.3067T>G (p.Phe1023Val)
c.*2191T>G (n.*2191T>G)
c.*2726T>G (n.*2726T>G)
c.3279T>G (n.3279T>G)
c.2899T>G (p.Phe967Val)
c.2947T>G (p.Phe983Val)
c.3043T>G (p.Phe1015Val)
c.2989T>G (p.Phe997Val)
c.2950T>G (p.Phe984Val)
c.31T>G (p.Phe11Val)
18g.33742916T>ACA402184190ASXL3c.3071T>A (p.Phe1024Tyr)
c.3068T>A (p.Phe1023Tyr)
c.*2192T>A (n.*2192T>A)
c.*2727T>A (n.*2727T>A)
c.3280T>A (n.3280T>A)
c.2900T>A (p.Phe967Tyr)
c.2948T>A (p.Phe983Tyr)
c.3044T>A (p.Phe1015Tyr)
c.2990T>A (p.Phe997Tyr)
c.2951T>A (p.Phe984Tyr)
c.32T>A (p.Phe11Tyr)
18g.33742916T>CCA402184193ASXL3c.3071T>C (p.Phe1024Ser)
c.3068T>C (p.Phe1023Ser)
c.*2192T>C (n.*2192T>C)
c.*2727T>C (n.*2727T>C)
c.3280T>C (n.3280T>C)
c.2900T>C (p.Phe967Ser)
c.2948T>C (p.Phe983Ser)
c.3044T>C (p.Phe1015Ser)
c.2990T>C (p.Phe997Ser)
c.2951T>C (p.Phe984Ser)
c.32T>C (p.Phe11Ser)
18g.33742916T>GCA402184192ASXL3c.3071T>G (p.Phe1024Cys)
c.3068T>G (p.Phe1023Cys)
c.*2192T>G (n.*2192T>G)
c.*2727T>G (n.*2727T>G)
c.3280T>G (n.3280T>G)
c.2900T>G (p.Phe967Cys)
c.2948T>G (p.Phe983Cys)
c.3044T>G (p.Phe1015Cys)
c.2990T>G (p.Phe997Cys)
c.2951T>G (p.Phe984Cys)
c.32T>G (p.Phe11Cys)
18g.33742917T>ACA402184195ASXL3c.3072T>A (p.Phe1024Leu)
c.3069T>A (p.Phe1023Leu)
c.*2193T>A (n.*2193T>A)
c.*2728T>A (n.*2728T>A)
c.3281T>A (n.3281T>A)
c.2901T>A (p.Phe967Leu)
c.2949T>A (p.Phe983Leu)
c.3045T>A (p.Phe1015Leu)
c.2991T>A (p.Phe997Leu)
c.2952T>A (p.Phe984Leu)
c.33T>A (p.Phe11Leu)
18g.33742917T>CCA503769119ASXL3c.3072T>C (p.Phe1024=)
c.3069T>C (p.Phe1023=)
c.*2193T>C (n.*2193T>C)
c.*2728T>C (n.*2728T>C)
c.3281T>C (n.3281T>C)
c.2901T>C (p.Phe967=)
c.2949T>C (p.Phe983=)
c.3045T>C (p.Phe1015=)
c.2991T>C (p.Phe997=)
c.2952T>C (p.Phe984=)
c.33T>C (p.Phe11=)
gnomAD v4
18g.33742917T>GCA402184197ASXL3c.3072T>G (p.Phe1024Leu)
c.3069T>G (p.Phe1023Leu)
c.*2193T>G (n.*2193T>G)
c.*2728T>G (n.*2728T>G)
c.3281T>G (n.3281T>G)
c.2901T>G (p.Phe967Leu)
c.2949T>G (p.Phe983Leu)
c.3045T>G (p.Phe1015Leu)
c.2991T>G (p.Phe997Leu)
c.2952T>G (p.Phe984Leu)
c.33T>G (p.Phe11Leu)
18g.33742918A>CCA402184199ASXL3c.3073A>C (p.Ile1025Leu)
c.3070A>C (p.Ile1024Leu)
c.*2194A>C (n.*2194A>C)
c.*2729A>C (n.*2729A>C)
c.3282A>C (n.3282A>C)
c.2902A>C (p.Ile968Leu)
c.2950A>C (p.Ile984Leu)
c.3046A>C (p.Ile1016Leu)
c.2992A>C (p.Ile998Leu)
c.2953A>C (p.Ile985Leu)
c.34A>C (p.Ile12Leu)
18g.33742918A>GCA402184200ASXL3c.3073A>G (p.Ile1025Val)
c.3070A>G (p.Ile1024Val)
c.*2194A>G (n.*2194A>G)
c.*2729A>G (n.*2729A>G)
c.3282A>G (n.3282A>G)
c.2902A>G (p.Ile968Val)
c.2950A>G (p.Ile984Val)
c.3046A>G (p.Ile1016Val)
c.2992A>G (p.Ile998Val)
c.2953A>G (p.Ile985Val)
c.34A>G (p.Ile12Val)
gnomAD v4
18g.33742918A>TCA402184202ASXL3c.3073A>T (p.Ile1025Leu)
c.3070A>T (p.Ile1024Leu)
c.*2194A>T (n.*2194A>T)
c.*2729A>T (n.*2729A>T)
c.3282A>T (n.3282A>T)
c.2902A>T (p.Ile968Leu)
c.2950A>T (p.Ile984Leu)
c.3046A>T (p.Ile1016Leu)
c.2992A>T (p.Ile998Leu)
c.2953A>T (p.Ile985Leu)
c.34A>T (p.Ile12Leu)
18g.33742919T>ACA402184205ASXL3c.3074T>A (p.Ile1025Lys)
c.3071T>A (p.Ile1024Lys)
c.*2195T>A (n.*2195T>A)
c.*2730T>A (n.*2730T>A)
c.3283T>A (n.3283T>A)
c.2903T>A (p.Ile968Lys)
c.2951T>A (p.Ile984Lys)
c.3047T>A (p.Ile1016Lys)
c.2993T>A (p.Ile998Lys)
c.2954T>A (p.Ile985Lys)
c.35T>A (p.Ile12Lys)
18g.33742919T>CCA402184207ASXL3c.3074T>C (p.Ile1025Thr)
c.3071T>C (p.Ile1024Thr)
c.*2195T>C (n.*2195T>C)
c.*2730T>C (n.*2730T>C)
c.3283T>C (n.3283T>C)
c.2903T>C (p.Ile968Thr)
c.2951T>C (p.Ile984Thr)
c.3047T>C (p.Ile1016Thr)
c.2993T>C (p.Ile998Thr)
c.2954T>C (p.Ile985Thr)
c.35T>C (p.Ile12Thr)
18g.33742919T>GCA402184208ASXL3c.3074T>G (p.Ile1025Arg)
c.3071T>G (p.Ile1024Arg)
c.*2195T>G (n.*2195T>G)
c.*2730T>G (n.*2730T>G)
c.3283T>G (n.3283T>G)
c.2903T>G (p.Ile968Arg)
c.2951T>G (p.Ile984Arg)
c.3047T>G (p.Ile1016Arg)
c.2993T>G (p.Ile998Arg)
c.2954T>G (p.Ile985Arg)
c.35T>G (p.Ile12Arg)
18g.33742920A>CCA503769121ASXL3c.3075A>C (p.Ile1025=)
c.3072A>C (p.Ile1024=)
c.*2196A>C (n.*2196A>C)
c.*2731A>C (n.*2731A>C)
c.3284A>C (n.3284A>C)
c.2904A>C (p.Ile968=)
c.2952A>C (p.Ile984=)
c.3048A>C (p.Ile1016=)
c.2994A>C (p.Ile998=)
c.2955A>C (p.Ile985=)
c.36A>C (p.Ile12=)
18g.33742920A>GCA402184211ASXL3c.3075A>G (p.Ile1025Met)
c.3072A>G (p.Ile1024Met)
c.*2196A>G (n.*2196A>G)
c.*2731A>G (n.*2731A>G)
c.3284A>G (n.3284A>G)
c.2904A>G (p.Ile968Met)
c.2952A>G (p.Ile984Met)
c.3048A>G (p.Ile1016Met)
c.2994A>G (p.Ile998Met)
c.2955A>G (p.Ile985Met)
c.36A>G (p.Ile12Met)
18g.33742920A>TCA503769122ASXL3c.3075A>T (p.Ile1025=)
c.3072A>T (p.Ile1024=)
c.*2196A>T (n.*2196A>T)
c.*2731A>T (n.*2731A>T)
c.3284A>T (n.3284A>T)
c.2904A>T (p.Ile968=)
c.2952A>T (p.Ile984=)
c.3048A>T (p.Ile1016=)
c.2994A>T (p.Ile998=)
c.2955A>T (p.Ile985=)
c.36A>T (p.Ile12=)
18g.33742921A>CCA402184214ASXL3c.3076A>C (p.Ile1026Leu)
c.3073A>C (p.Ile1025Leu)
c.*2197A>C (n.*2197A>C)
c.*2732A>C (n.*2732A>C)
c.3285A>C (n.3285A>C)
c.2905A>C (p.Ile969Leu)
c.2953A>C (p.Ile985Leu)
c.3049A>C (p.Ile1017Leu)
c.2995A>C (p.Ile999Leu)
c.2956A>C (p.Ile986Leu)
c.37A>C (p.Ile13Leu)
18g.33742921A>GCA402184216ASXL3c.3076A>G (p.Ile1026Val)
c.3073A>G (p.Ile1025Val)
c.*2197A>G (n.*2197A>G)
c.*2732A>G (n.*2732A>G)
c.3285A>G (n.3285A>G)
c.2905A>G (p.Ile969Val)
c.2953A>G (p.Ile985Val)
c.3049A>G (p.Ile1017Val)
c.2995A>G (p.Ile999Val)
c.2956A>G (p.Ile986Val)
c.37A>G (p.Ile13Val)
gnomAD v4
18g.33742921A>TCA402184218ASXL3c.3076A>T (p.Ile1026Phe)
c.3073A>T (p.Ile1025Phe)
c.*2197A>T (n.*2197A>T)
c.*2732A>T (n.*2732A>T)
c.3285A>T (n.3285A>T)
c.2905A>T (p.Ile969Phe)
c.2953A>T (p.Ile985Phe)
c.3049A>T (p.Ile1017Phe)
c.2995A>T (p.Ile999Phe)
c.2956A>T (p.Ile986Phe)
c.37A>T (p.Ile13Phe)
18g.33742922T>ACA402184225ASXL3c.3077T>A (p.Ile1026Asn)
c.3074T>A (p.Ile1025Asn)
c.*2198T>A (n.*2198T>A)
c.*2733T>A (n.*2733T>A)
c.3286T>A (n.3286T>A)
c.2906T>A (p.Ile969Asn)
c.2954T>A (p.Ile985Asn)
c.3050T>A (p.Ile1017Asn)
c.2996T>A (p.Ile999Asn)
c.2957T>A (p.Ile986Asn)
c.38T>A (p.Ile13Asn)
18g.33742922T>CCA402184223ASXL3c.3077T>C (p.Ile1026Thr)
c.3074T>C (p.Ile1025Thr)
c.*2198T>C (n.*2198T>C)
c.*2733T>C (n.*2733T>C)
c.3286T>C (n.3286T>C)
c.2906T>C (p.Ile969Thr)
c.2954T>C (p.Ile985Thr)
c.3050T>C (p.Ile1017Thr)
c.2996T>C (p.Ile999Thr)
c.2957T>C (p.Ile986Thr)
c.38T>C (p.Ile13Thr)
18g.33742922T>GCA402184221ASXL3c.3077T>G (p.Ile1026Ser)
c.3074T>G (p.Ile1025Ser)
c.*2198T>G (n.*2198T>G)
c.*2733T>G (n.*2733T>G)
c.3286T>G (n.3286T>G)
c.2906T>G (p.Ile969Ser)
c.2954T>G (p.Ile985Ser)
c.3050T>G (p.Ile1017Ser)
c.2996T>G (p.Ile999Ser)
c.2957T>G (p.Ile986Ser)
c.38T>G (p.Ile13Ser)
18g.33742923C>ACA503769124ASXL3c.3078C>A (p.Ile1026=)
c.3075C>A (p.Ile1025=)
c.*2199C>A (n.*2199C>A)
c.*2734C>A (n.*2734C>A)
c.3287C>A (n.3287C>A)
c.2907C>A (p.Ile969=)
c.2955C>A (p.Ile985=)
c.3051C>A (p.Ile1017=)
c.2997C>A (p.Ile999=)
c.2958C>A (p.Ile986=)
c.39C>A (p.Ile13=)
18g.33742923C>GCA402184228ASXL3c.3078C>G (p.Ile1026Met)
c.3075C>G (p.Ile1025Met)
c.*2199C>G (n.*2199C>G)
c.*2734C>G (n.*2734C>G)
c.3287C>G (n.3287C>G)
c.2907C>G (p.Ile969Met)
c.2955C>G (p.Ile985Met)
c.3051C>G (p.Ile1017Met)
c.2997C>G (p.Ile999Met)
c.2958C>G (p.Ile986Met)
c.39C>G (p.Ile13Met)
18g.33742923C>TCA503769125ASXL3c.3078C>T (p.Ile1026=)
c.3075C>T (p.Ile1025=)
c.*2199C>T (n.*2199C>T)
c.*2734C>T (n.*2734C>T)
c.3287C>T (n.3287C>T)
c.2907C>T (p.Ile969=)
c.2955C>T (p.Ile985=)
c.3051C>T (p.Ile1017=)
c.2997C>T (p.Ile999=)
c.2958C>T (p.Ile986=)
c.39C>T (p.Ile13=)
18g.33742924A>CCA402184231ASXL3c.3079A>C (p.Lys1027Gln)
c.3076A>C (p.Lys1026Gln)
c.*2200A>C (n.*2200A>C)
c.*2735A>C (n.*2735A>C)
c.3288A>C (n.3288A>C)
c.2908A>C (p.Lys970Gln)
c.2956A>C (p.Lys986Gln)
c.3052A>C (p.Lys1018Gln)
c.2998A>C (p.Lys1000Gln)
c.2959A>C (p.Lys987Gln)
c.40A>C (p.Lys14Gln)
18g.33742924A>GCA402184233ASXL3c.3079A>G (p.Lys1027Glu)
c.3076A>G (p.Lys1026Glu)
c.*2200A>G (n.*2200A>G)
c.*2735A>G (n.*2735A>G)
c.3288A>G (n.3288A>G)
c.2908A>G (p.Lys970Glu)
c.2956A>G (p.Lys986Glu)
c.3052A>G (p.Lys1018Glu)
c.2998A>G (p.Lys1000Glu)
c.2959A>G (p.Lys987Glu)
c.40A>G (p.Lys14Glu)
18g.33742924A>TCA402184235ASXL3c.3079A>T (p.Lys1027Ter)
c.3076A>T (p.Lys1026Ter)
c.*2200A>T (n.*2200A>T)
c.*2735A>T (n.*2735A>T)
c.3288A>T (n.3288A>T)
c.2908A>T (p.Lys970Ter)
c.2956A>T (p.Lys986Ter)
c.3052A>T (p.Lys1018Ter)
c.2998A>T (p.Lys1000Ter)
c.2959A>T (p.Lys987Ter)
c.40A>T (p.Lys14Ter)
ClinVar
18g.33742925A>CCA402184238ASXL3c.3080A>C (p.Lys1027Thr)
c.3077A>C (p.Lys1026Thr)
c.*2201A>C (n.*2201A>C)
c.*2736A>C (n.*2736A>C)
c.3289A>C (n.3289A>C)
c.2909A>C (p.Lys970Thr)
c.2957A>C (p.Lys986Thr)
c.3053A>C (p.Lys1018Thr)
c.2999A>C (p.Lys1000Thr)
c.2960A>C (p.Lys987Thr)
c.41A>C (p.Lys14Thr)
18g.33742925A>GCA402184240ASXL3c.3080A>G (p.Lys1027Arg)
c.3077A>G (p.Lys1026Arg)
c.*2201A>G (n.*2201A>G)
c.*2736A>G (n.*2736A>G)
c.3289A>G (n.3289A>G)
c.2909A>G (p.Lys970Arg)
c.2957A>G (p.Lys986Arg)
c.3053A>G (p.Lys1018Arg)
c.2999A>G (p.Lys1000Arg)
c.2960A>G (p.Lys987Arg)
c.41A>G (p.Lys14Arg)
18g.33742925A>TCA402184242ASXL3c.3080A>T (p.Lys1027Met)
c.3077A>T (p.Lys1026Met)
c.*2201A>T (n.*2201A>T)
c.*2736A>T (n.*2736A>T)
c.3289A>T (n.3289A>T)
c.2909A>T (p.Lys970Met)
c.2957A>T (p.Lys986Met)
c.3053A>T (p.Lys1018Met)
c.2999A>T (p.Lys1000Met)
c.2960A>T (p.Lys987Met)
c.41A>T (p.Lys14Met)
18g.33742926G>ACA503769129ASXL3c.3081G>A (p.Lys1027=)
c.3078G>A (p.Lys1026=)
c.*2202G>A (n.*2202G>A)
c.*2737G>A (n.*2737G>A)
c.3290G>A (n.3290G>A)
c.2910G>A (p.Lys970=)
c.2958G>A (p.Lys986=)
c.3054G>A (p.Lys1018=)
c.3000G>A (p.Lys1000=)
c.2961G>A (p.Lys987=)
c.42G>A (p.Lys14=)
18g.33742926G>CCA8934018ASXL3c.3081G>C (p.Lys1027Asn)
c.3078G>C (p.Lys1026Asn)
c.*2202G>C (n.*2202G>C)
c.*2737G>C (n.*2737G>C)
c.3290G>C (n.3290G>C)
c.2910G>C (p.Lys970Asn)
c.2958G>C (p.Lys986Asn)
c.3054G>C (p.Lys1018Asn)
c.3000G>C (p.Lys1000Asn)
c.2961G>C (p.Lys987Asn)
c.42G>C (p.Lys14Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33742926G=CA2294857484ASXL3c.3081G= (p.Lys1027=)
c.3078G= (p.Lys1026=)
c.*2202G= (n.*2202G=)
c.*2737G= (n.*2737G=)
c.3290G= (n.3290G=)
c.2910G= (p.Lys970=)
c.2958G= (p.Lys986=)
c.3054G= (p.Lys1018=)
c.3000G= (p.Lys1000=)
c.2961G= (p.Lys987=)
c.42G= (p.Lys14=)
18g.33742926G>TCA402184247ASXL3c.3081G>T (p.Lys1027Asn)
c.3078G>T (p.Lys1026Asn)
c.*2202G>T (n.*2202G>T)
c.*2737G>T (n.*2737G>T)
c.3290G>T (n.3290G>T)
c.2910G>T (p.Lys970Asn)
c.2958G>T (p.Lys986Asn)
c.3054G>T (p.Lys1018Asn)
c.3000G>T (p.Lys1000Asn)
c.2961G>T (p.Lys987Asn)
c.42G>T (p.Lys14Asn)
dbSNP gnomAD v2
18g.33742927A>CCA402184250ASXL3c.3082A>C (p.Ser1028Arg)
c.3079A>C (p.Ser1027Arg)
c.*2203A>C (n.*2203A>C)
c.*2738A>C (n.*2738A>C)
c.3291A>C (n.3291A>C)
c.2911A>C (p.Ser971Arg)
c.2959A>C (p.Ser987Arg)
c.3055A>C (p.Ser1019Arg)
c.3001A>C (p.Ser1001Arg)
c.2962A>C (p.Ser988Arg)
c.43A>C (p.Ser15Arg)
18g.33742927A>GCA402184252ASXL3c.3082A>G (p.Ser1028Gly)
c.3079A>G (p.Ser1027Gly)
c.*2203A>G (n.*2203A>G)
c.*2738A>G (n.*2738A>G)
c.3291A>G (n.3291A>G)
c.2911A>G (p.Ser971Gly)
c.2959A>G (p.Ser987Gly)
c.3055A>G (p.Ser1019Gly)
c.3001A>G (p.Ser1001Gly)
c.2962A>G (p.Ser988Gly)
c.43A>G (p.Ser15Gly)
18g.33742927A>TCA402184254ASXL3c.3082A>T (p.Ser1028Cys)
c.3079A>T (p.Ser1027Cys)
c.*2203A>T (n.*2203A>T)
c.*2738A>T (n.*2738A>T)
c.3291A>T (n.3291A>T)
c.2911A>T (p.Ser971Cys)
c.2959A>T (p.Ser987Cys)
c.3055A>T (p.Ser1019Cys)
c.3001A>T (p.Ser1001Cys)
c.2962A>T (p.Ser988Cys)
c.43A>T (p.Ser15Cys)
18g.33742928G>ACA402184257ASXL3c.3083G>A (p.Ser1028Asn)
c.3080G>A (p.Ser1027Asn)
c.*2204G>A (n.*2204G>A)
c.*2739G>A (n.*2739G>A)
c.3292G>A (n.3292G>A)
c.2912G>A (p.Ser971Asn)
c.2960G>A (p.Ser987Asn)
c.3056G>A (p.Ser1019Asn)
c.3002G>A (p.Ser1001Asn)
c.2963G>A (p.Ser988Asn)
c.44G>A (p.Ser15Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33742928G>CCA402184261ASXL3c.3083G>C (p.Ser1028Thr)
c.3080G>C (p.Ser1027Thr)
c.*2204G>C (n.*2204G>C)
c.*2739G>C (n.*2739G>C)
c.3292G>C (n.3292G>C)
c.2912G>C (p.Ser971Thr)
c.2960G>C (p.Ser987Thr)
c.3056G>C (p.Ser1019Thr)
c.3002G>C (p.Ser1001Thr)
c.2963G>C (p.Ser988Thr)
c.44G>C (p.Ser15Thr)
18g.33742928G=CA2294857485ASXL3c.3083G= (p.Ser1028=)
c.3080G= (p.Ser1027=)
c.*2204G= (n.*2204G=)
c.*2739G= (n.*2739G=)
c.3292G= (n.3292G=)
c.2912G= (p.Ser971=)
c.2960G= (p.Ser987=)
c.3056G= (p.Ser1019=)
c.3002G= (p.Ser1001=)
c.2963G= (p.Ser988=)
c.44G= (p.Ser15=)
18g.33742928G>TCA402184259ASXL3c.3083G>T (p.Ser1028Ile)
c.3080G>T (p.Ser1027Ile)
c.*2204G>T (n.*2204G>T)
c.*2739G>T (n.*2739G>T)
c.3292G>T (n.3292G>T)
c.2912G>T (p.Ser971Ile)
c.2960G>T (p.Ser987Ile)
c.3056G>T (p.Ser1019Ile)
c.3002G>T (p.Ser1001Ile)
c.2963G>T (p.Ser988Ile)
c.44G>T (p.Ser15Ile)
18g.33742929C>ACA402184264ASXL3c.3084C>A (p.Ser1028Arg)
c.3081C>A (p.Ser1027Arg)
c.*2205C>A (n.*2205C>A)
c.*2740C>A (n.*2740C>A)
c.3293C>A (n.3293C>A)
c.2913C>A (p.Ser971Arg)
c.2961C>A (p.Ser987Arg)
c.3057C>A (p.Ser1019Arg)
c.3003C>A (p.Ser1001Arg)
c.2964C>A (p.Ser988Arg)
c.45C>A (p.Ser15Arg)
dbSNP gnomAD v2 gnomAD v4
18g.33742929C=CA2294857486ASXL3c.3084C= (p.Ser1028=)
c.3081C= (p.Ser1027=)
c.*2205C= (n.*2205C=)
c.*2740C= (n.*2740C=)
c.3293C= (n.3293C=)
c.2913C= (p.Ser971=)
c.2961C= (p.Ser987=)
c.3057C= (p.Ser1019=)
c.3003C= (p.Ser1001=)
c.2964C= (p.Ser988=)
c.45C= (p.Ser15=)
18g.33742929C>GCA402184266ASXL3c.3084C>G (p.Ser1028Arg)
c.3081C>G (p.Ser1027Arg)
c.*2205C>G (n.*2205C>G)
c.*2740C>G (n.*2740C>G)
c.3293C>G (n.3293C>G)
c.2913C>G (p.Ser971Arg)
c.2961C>G (p.Ser987Arg)
c.3057C>G (p.Ser1019Arg)
c.3003C>G (p.Ser1001Arg)
c.2964C>G (p.Ser988Arg)
c.45C>G (p.Ser15Arg)
gnomAD v4
18g.33742929C>TCA503769130ASXL3c.3084C>T (p.Ser1028=)
c.3081C>T (p.Ser1027=)
c.*2205C>T (n.*2205C>T)
c.*2740C>T (n.*2740C>T)
c.3293C>T (n.3293C>T)
c.2913C>T (p.Ser971=)
c.2961C>T (p.Ser987=)
c.3057C>T (p.Ser1019=)
c.3003C>T (p.Ser1001=)
c.2964C>T (p.Ser988=)
c.45C>T (p.Ser15=)
18g.33742930C>ACA402184270ASXL3c.3085C>A (p.Gln1029Lys)
c.3082C>A (p.Gln1028Lys)
c.*2206C>A (n.*2206C>A)
c.*2741C>A (n.*2741C>A)
c.3294C>A (n.3294C>A)
c.2914C>A (p.Gln972Lys)
c.2962C>A (p.Gln988Lys)
c.3058C>A (p.Gln1020Lys)
c.3004C>A (p.Gln1002Lys)
c.2965C>A (p.Gln989Lys)
c.46C>A (p.Gln16Lys)
18g.33742930C>GCA402184273ASXL3c.3085C>G (p.Gln1029Glu)
c.3082C>G (p.Gln1028Glu)
c.*2206C>G (n.*2206C>G)
c.*2741C>G (n.*2741C>G)
c.3294C>G (n.3294C>G)
c.2914C>G (p.Gln972Glu)
c.2962C>G (p.Gln988Glu)
c.3058C>G (p.Gln1020Glu)
c.3004C>G (p.Gln1002Glu)
c.2965C>G (p.Gln989Glu)
c.46C>G (p.Gln16Glu)
18g.33742930C>TCA402184271ASXL3c.3085C>T (p.Gln1029Ter)
c.3082C>T (p.Gln1028Ter)
c.*2206C>T (n.*2206C>T)
c.*2741C>T (n.*2741C>T)
c.3294C>T (n.3294C>T)
c.2914C>T (p.Gln972Ter)
c.2962C>T (p.Gln988Ter)
c.3058C>T (p.Gln1020Ter)
c.3004C>T (p.Gln1002Ter)
c.2965C>T (p.Gln989Ter)
c.46C>T (p.Gln16Ter)
18g.33742931A>CCA402184276ASXL3c.3086A>C (p.Gln1029Pro)
c.3083A>C (p.Gln1028Pro)
c.*2207A>C (n.*2207A>C)
c.*2742A>C (n.*2742A>C)
c.3295A>C (n.3295A>C)
c.2915A>C (p.Gln972Pro)
c.2963A>C (p.Gln988Pro)
c.3059A>C (p.Gln1020Pro)
c.3005A>C (p.Gln1002Pro)
c.2966A>C (p.Gln989Pro)
c.47A>C (p.Gln16Pro)
18g.33742931A>GCA402184279ASXL3c.3086A>G (p.Gln1029Arg)
c.3083A>G (p.Gln1028Arg)
c.*2207A>G (n.*2207A>G)
c.*2742A>G (n.*2742A>G)
c.3295A>G (n.3295A>G)
c.2915A>G (p.Gln972Arg)
c.2963A>G (p.Gln988Arg)
c.3059A>G (p.Gln1020Arg)
c.3005A>G (p.Gln1002Arg)
c.2966A>G (p.Gln989Arg)
c.47A>G (p.Gln16Arg)
18g.33742931A>TCA402184277ASXL3c.3086A>T (p.Gln1029Leu)
c.3083A>T (p.Gln1028Leu)
c.*2207A>T (n.*2207A>T)
c.*2742A>T (n.*2742A>T)
c.3295A>T (n.3295A>T)
c.2915A>T (p.Gln972Leu)
c.2963A>T (p.Gln988Leu)
c.3059A>T (p.Gln1020Leu)
c.3005A>T (p.Gln1002Leu)
c.2966A>T (p.Gln989Leu)
c.47A>T (p.Gln16Leu)
18g.33742932A>CCA402184281ASXL3c.3087A>C (p.Gln1029His)
c.3084A>C (p.Gln1028His)
c.*2208A>C (n.*2208A>C)
c.*2743A>C (n.*2743A>C)
c.3296A>C (n.3296A>C)
c.2916A>C (p.Gln972His)
c.2964A>C (p.Gln988His)
c.3060A>C (p.Gln1020His)
c.3006A>C (p.Gln1002His)
c.2967A>C (p.Gln989His)
c.48A>C (p.Gln16His)
18g.33742932A>GCA503769133ASXL3c.3087A>G (p.Gln1029=)
c.3084A>G (p.Gln1028=)
c.*2208A>G (n.*2208A>G)
c.*2743A>G (n.*2743A>G)
c.3296A>G (n.3296A>G)
c.2916A>G (p.Gln972=)
c.2964A>G (p.Gln988=)
c.3060A>G (p.Gln1020=)
c.3006A>G (p.Gln1002=)
c.2967A>G (p.Gln989=)
c.48A>G (p.Gln16=)
gnomAD v4
18g.33742932A>TCA402184282ASXL3c.3087A>T (p.Gln1029His)
c.3084A>T (p.Gln1028His)
c.*2208A>T (n.*2208A>T)
c.*2743A>T (n.*2743A>T)
c.3296A>T (n.3296A>T)
c.2916A>T (p.Gln972His)
c.2964A>T (p.Gln988His)
c.3060A>T (p.Gln1020His)
c.3006A>T (p.Gln1002His)
c.2967A>T (p.Gln989His)
c.48A>T (p.Gln16His)
gnomAD v4
18g.33742933C>ACA402184285ASXL3c.3088C>A (p.Pro1030Thr)
c.3085C>A (p.Pro1029Thr)
c.*2209C>A (n.*2209C>A)
c.*2744C>A (n.*2744C>A)
c.3297C>A (n.3297C>A)
c.2917C>A (p.Pro973Thr)
c.2965C>A (p.Pro989Thr)
c.3061C>A (p.Pro1021Thr)
c.3007C>A (p.Pro1003Thr)
c.2968C>A (p.Pro990Thr)
c.49C>A (p.Pro17Thr)
COSMIC COSMIC
18g.33742933C=CA2294857487ASXL3c.3088C= (p.Pro1030=)
c.3085C= (p.Pro1029=)
c.*2209C= (n.*2209C=)
c.*2744C= (n.*2744C=)
c.3297C= (n.3297C=)
c.2917C= (p.Pro973=)
c.2965C= (p.Pro989=)
c.3061C= (p.Pro1021=)
c.3007C= (p.Pro1003=)
c.2968C= (p.Pro990=)
c.49C= (p.Pro17=)
18g.33742933C>GCA402184287ASXL3c.3088C>G (p.Pro1030Ala)
c.3085C>G (p.Pro1029Ala)
c.*2209C>G (n.*2209C>G)
c.*2744C>G (n.*2744C>G)
c.3297C>G (n.3297C>G)
c.2917C>G (p.Pro973Ala)
c.2965C>G (p.Pro989Ala)
c.3061C>G (p.Pro1021Ala)
c.3007C>G (p.Pro1003Ala)
c.2968C>G (p.Pro990Ala)
c.49C>G (p.Pro17Ala)
18g.33742933C>TCA8934019ASXL3c.3088C>T (p.Pro1030Ser)
c.3085C>T (p.Pro1029Ser)
c.*2209C>T (n.*2209C>T)
c.*2744C>T (n.*2744C>T)
c.3297C>T (n.3297C>T)
c.2917C>T (p.Pro973Ser)
c.2965C>T (p.Pro989Ser)
c.3061C>T (p.Pro1021Ser)
c.3007C>T (p.Pro1003Ser)
c.2968C>T (p.Pro990Ser)
c.49C>T (p.Pro17Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33742934C>ACA402184291ASXL3c.3089C>A (p.Pro1030Gln)
c.3086C>A (p.Pro1029Gln)
c.*2210C>A (n.*2210C>A)
c.*2745C>A (n.*2745C>A)
c.3298C>A (n.3298C>A)
c.2918C>A (p.Pro973Gln)
c.2966C>A (p.Pro989Gln)
c.3062C>A (p.Pro1021Gln)
c.3008C>A (p.Pro1003Gln)
c.2969C>A (p.Pro990Gln)
c.50C>A (p.Pro17Gln)
18g.33742934C>GCA402184293ASXL3c.3089C>G (p.Pro1030Arg)
c.3086C>G (p.Pro1029Arg)
c.*2210C>G (n.*2210C>G)
c.*2745C>G (n.*2745C>G)
c.3298C>G (n.3298C>G)
c.2918C>G (p.Pro973Arg)
c.2966C>G (p.Pro989Arg)
c.3062C>G (p.Pro1021Arg)
c.3008C>G (p.Pro1003Arg)
c.2969C>G (p.Pro990Arg)
c.50C>G (p.Pro17Arg)
18g.33742934C>TCA402184295ASXL3c.3089C>T (p.Pro1030Leu)
c.3086C>T (p.Pro1029Leu)
c.*2210C>T (n.*2210C>T)
c.*2745C>T (n.*2745C>T)
c.3298C>T (n.3298C>T)
c.2918C>T (p.Pro973Leu)
c.2966C>T (p.Pro989Leu)
c.3062C>T (p.Pro1021Leu)
c.3008C>T (p.Pro1003Leu)
c.2969C>T (p.Pro990Leu)
c.50C>T (p.Pro17Leu)
18g.33742935A=CA2294857488ASXL3c.3090A= (p.Pro1030=)
c.3087A= (p.Pro1029=)
c.*2211A= (n.*2211A=)
c.*2746A= (n.*2746A=)
c.3299A= (n.3299A=)
c.2919A= (p.Pro973=)
c.2967A= (p.Pro989=)
c.3063A= (p.Pro1021=)
c.3009A= (p.Pro1003=)
c.2970A= (p.Pro990=)
c.51A= (p.Pro17=)
18g.33742935A>CCA503769421ASXL3c.3090A>C (p.Pro1030=)
c.3087A>C (p.Pro1029=)
c.*2211A>C (n.*2211A>C)
c.*2746A>C (n.*2746A>C)
c.3299A>C (n.3299A>C)
c.2919A>C (p.Pro973=)
c.2967A>C (p.Pro989=)
c.3063A>C (p.Pro1021=)
c.3009A>C (p.Pro1003=)
c.2970A>C (p.Pro990=)
c.51A>C (p.Pro17=)
18g.33742935A>GCA503769422ASXL3c.3090A>G (p.Pro1030=)
c.3087A>G (p.Pro1029=)
c.*2211A>G (n.*2211A>G)
c.*2746A>G (n.*2746A>G)
c.3299A>G (n.3299A>G)
c.2919A>G (p.Pro973=)
c.2967A>G (p.Pro989=)
c.3063A>G (p.Pro1021=)
c.3009A>G (p.Pro1003=)
c.2970A>G (p.Pro990=)
c.51A>G (p.Pro17=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33742935A>TCA503769423ASXL3c.3090A>T (p.Pro1030=)
c.3087A>T (p.Pro1029=)
c.*2211A>T (n.*2211A>T)
c.*2746A>T (n.*2746A>T)
c.3299A>T (n.3299A>T)
c.2919A>T (p.Pro973=)
c.2967A>T (p.Pro989=)
c.3063A>T (p.Pro1021=)
c.3009A>T (p.Pro1003=)
c.2970A>T (p.Pro990=)
c.51A>T (p.Pro17=)
18g.33742936G>ACA402184299ASXL3c.3091G>A (p.Val1031Ile)
c.3088G>A (p.Val1030Ile)
c.*2212G>A (n.*2212G>A)
c.*2747G>A (n.*2747G>A)
c.3300G>A (n.3300G>A)
c.2920G>A (p.Val974Ile)
c.2968G>A (p.Val990Ile)
c.3064G>A (p.Val1022Ile)
c.3010G>A (p.Val1004Ile)
c.2971G>A (p.Val991Ile)
c.52G>A (p.Val18Ile)
18g.33742936G>CCA402184303ASXL3c.3091G>C (p.Val1031Leu)
c.3088G>C (p.Val1030Leu)
c.*2212G>C (n.*2212G>C)
c.*2747G>C (n.*2747G>C)
c.3300G>C (n.3300G>C)
c.2920G>C (p.Val974Leu)
c.2968G>C (p.Val990Leu)
c.3064G>C (p.Val1022Leu)
c.3010G>C (p.Val1004Leu)
c.2971G>C (p.Val991Leu)
c.52G>C (p.Val18Leu)
18g.33742936G>TCA402184301ASXL3c.3091G>T (p.Val1031Phe)
c.3088G>T (p.Val1030Phe)
c.*2212G>T (n.*2212G>T)
c.*2747G>T (n.*2747G>T)
c.3300G>T (n.3300G>T)
c.2920G>T (p.Val974Phe)
c.2968G>T (p.Val990Phe)
c.3064G>T (p.Val1022Phe)
c.3010G>T (p.Val1004Phe)
c.2971G>T (p.Val991Phe)
c.52G>T (p.Val18Phe)
18g.33742937T>ACA402184306ASXL3c.3092T>A (p.Val1031Asp)
c.3089T>A (p.Val1030Asp)
c.*2213T>A (n.*2213T>A)
c.*2748T>A (n.*2748T>A)
c.3301T>A (n.3301T>A)
c.2921T>A (p.Val974Asp)
c.2969T>A (p.Val990Asp)
c.3065T>A (p.Val1022Asp)
c.3011T>A (p.Val1004Asp)
c.2972T>A (p.Val991Asp)
c.53T>A (p.Val18Asp)
18g.33742937T>CCA402184308ASXL3c.3092T>C (p.Val1031Ala)
c.3089T>C (p.Val1030Ala)
c.*2213T>C (n.*2213T>C)
c.*2748T>C (n.*2748T>C)
c.3301T>C (n.3301T>C)
c.2921T>C (p.Val974Ala)
c.2969T>C (p.Val990Ala)
c.3065T>C (p.Val1022Ala)
c.3011T>C (p.Val1004Ala)
c.2972T>C (p.Val991Ala)
c.53T>C (p.Val18Ala)
18g.33742937T>GCA402184310ASXL3c.3092T>G (p.Val1031Gly)
c.3089T>G (p.Val1030Gly)
c.*2213T>G (n.*2213T>G)
c.*2748T>G (n.*2748T>G)
c.3301T>G (n.3301T>G)
c.2921T>G (p.Val974Gly)
c.2969T>G (p.Val990Gly)
c.3065T>G (p.Val1022Gly)
c.3011T>G (p.Val1004Gly)
c.2972T>G (p.Val991Gly)
c.53T>G (p.Val18Gly)
18g.33742938C>ACA503769424ASXL3c.3093C>A (p.Val1031=)
c.3090C>A (p.Val1030=)
c.*2214C>A (n.*2214C>A)
c.*2749C>A (n.*2749C>A)
c.3302C>A (n.3302C>A)
c.2922C>A (p.Val974=)
c.2970C>A (p.Val990=)
c.3066C>A (p.Val1022=)
c.3012C>A (p.Val1004=)
c.2973C>A (p.Val991=)
c.54C>A (p.Val18=)
18g.33742938C=CA2294857489ASXL3c.3093C= (p.Val1031=)
c.3090C= (p.Val1030=)
c.*2214C= (n.*2214C=)
c.*2749C= (n.*2749C=)
c.3302C= (n.3302C=)
c.2922C= (p.Val974=)
c.2970C= (p.Val990=)
c.3066C= (p.Val1022=)
c.3012C= (p.Val1004=)
c.2973C= (p.Val991=)
c.54C= (p.Val18=)
18g.33742938C>GCA503769425ASXL3c.3093C>G (p.Val1031=)
c.3090C>G (p.Val1030=)
c.*2214C>G (n.*2214C>G)
c.*2749C>G (n.*2749C>G)
c.3302C>G (n.3302C>G)
c.2922C>G (p.Val974=)
c.2970C>G (p.Val990=)
c.3066C>G (p.Val1022=)
c.3012C>G (p.Val1004=)
c.2973C>G (p.Val991=)
c.54C>G (p.Val18=)
18g.33742938C>TCA8934020ASXL3c.3093C>T (p.Val1031=)
c.3090C>T (p.Val1030=)
c.*2214C>T (n.*2214C>T)
c.*2749C>T (n.*2749C>T)
c.3302C>T (n.3302C>T)
c.2922C>T (p.Val974=)
c.2970C>T (p.Val990=)
c.3066C>T (p.Val1022=)
c.3012C>T (p.Val1004=)
c.2973C>T (p.Val991=)
c.54C>T (p.Val18=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33742939T>ACA402184314ASXL3c.3094T>A (p.Ser1032Thr)
c.3091T>A (p.Ser1031Thr)
c.*2215T>A (n.*2215T>A)
c.*2750T>A (n.*2750T>A)
c.3303T>A (n.3303T>A)
c.2923T>A (p.Ser975Thr)
c.2971T>A (p.Ser991Thr)
c.3067T>A (p.Ser1023Thr)
c.3013T>A (p.Ser1005Thr)
c.2974T>A (p.Ser992Thr)
c.55T>A (p.Ser19Thr)
18g.33742939T>CCA402184319ASXL3c.3094T>C (p.Ser1032Pro)
c.3091T>C (p.Ser1031Pro)
c.*2215T>C (n.*2215T>C)
c.*2750T>C (n.*2750T>C)
c.3303T>C (n.3303T>C)
c.2923T>C (p.Ser975Pro)
c.2971T>C (p.Ser991Pro)
c.3067T>C (p.Ser1023Pro)
c.3013T>C (p.Ser1005Pro)
c.2974T>C (p.Ser992Pro)
c.55T>C (p.Ser19Pro)
18g.33742939T>GCA402184317ASXL3c.3094T>G (p.Ser1032Ala)
c.3091T>G (p.Ser1031Ala)
c.*2215T>G (n.*2215T>G)
c.*2750T>G (n.*2750T>G)
c.3303T>G (n.3303T>G)
c.2923T>G (p.Ser975Ala)
c.2971T>G (p.Ser991Ala)
c.3067T>G (p.Ser1023Ala)
c.3013T>G (p.Ser1005Ala)
c.2974T>G (p.Ser992Ala)
c.55T>G (p.Ser19Ala)
18g.33742940C>ACA402184322ASXL3c.3095C>A (p.Ser1032Tyr)
c.3092C>A (p.Ser1031Tyr)
c.*2216C>A (n.*2216C>A)
c.*2751C>A (n.*2751C>A)
c.3304C>A (n.3304C>A)
c.2924C>A (p.Ser975Tyr)
c.2972C>A (p.Ser991Tyr)
c.3068C>A (p.Ser1023Tyr)
c.3014C>A (p.Ser1005Tyr)
c.2975C>A (p.Ser992Tyr)
c.56C>A (p.Ser19Tyr)
18g.33742940C=CA2294857490ASXL3c.3095C= (p.Ser1032=)
c.3092C= (p.Ser1031=)
c.*2216C= (n.*2216C=)
c.*2751C= (n.*2751C=)
c.3304C= (n.3304C=)
c.2924C= (p.Ser975=)
c.2972C= (p.Ser991=)
c.3068C= (p.Ser1023=)
c.3014C= (p.Ser1005=)
c.2975C= (p.Ser992=)
c.56C= (p.Ser19=)
18g.33742940C>GCA402184324ASXL3c.3095C>G (p.Ser1032Cys)
c.3092C>G (p.Ser1031Cys)
c.*2216C>G (n.*2216C>G)
c.*2751C>G (n.*2751C>G)
c.3304C>G (n.3304C>G)
c.2924C>G (p.Ser975Cys)
c.2972C>G (p.Ser991Cys)
c.3068C>G (p.Ser1023Cys)
c.3014C>G (p.Ser1005Cys)
c.2975C>G (p.Ser992Cys)
c.56C>G (p.Ser19Cys)
18g.33742940C>TCA8934021ASXL3c.3095C>T (p.Ser1032Phe)
c.3092C>T (p.Ser1031Phe)
c.*2216C>T (n.*2216C>T)
c.*2751C>T (n.*2751C>T)
c.3304C>T (n.3304C>T)
c.2924C>T (p.Ser975Phe)
c.2972C>T (p.Ser991Phe)
c.3068C>T (p.Ser1023Phe)
c.3014C>T (p.Ser1005Phe)
c.2975C>T (p.Ser992Phe)
c.56C>T (p.Ser19Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.33742941C>ACA503769426ASXL3c.3096C>A (p.Ser1032=)
c.3093C>A (p.Ser1031=)
c.*2217C>A (n.*2217C>A)
c.*2752C>A (n.*2752C>A)
c.3305C>A (n.3305C>A)
c.2925C>A (p.Ser975=)
c.2973C>A (p.Ser991=)
c.3069C>A (p.Ser1023=)
c.3015C>A (p.Ser1005=)
c.2976C>A (p.Ser992=)
c.57C>A (p.Ser19=)
18g.33742941C>GCA503769427ASXL3c.3096C>G (p.Ser1032=)
c.3093C>G (p.Ser1031=)
c.*2217C>G (n.*2217C>G)
c.*2752C>G (n.*2752C>G)
c.3305C>G (n.3305C>G)
c.2925C>G (p.Ser975=)
c.2973C>G (p.Ser991=)
c.3069C>G (p.Ser1023=)
c.3015C>G (p.Ser1005=)
c.2976C>G (p.Ser992=)
c.57C>G (p.Ser19=)
18g.33742941C>TCA503769428ASXL3c.3096C>T (p.Ser1032=)
c.3093C>T (p.Ser1031=)
c.*2217C>T (n.*2217C>T)
c.*2752C>T (n.*2752C>T)
c.3305C>T (n.3305C>T)
c.2925C>T (p.Ser975=)
c.2973C>T (p.Ser991=)
c.3069C>T (p.Ser1023=)
c.3015C>T (p.Ser1005=)
c.2976C>T (p.Ser992=)
c.57C>T (p.Ser19=)
gnomAD v4
18g.33742942A>CCA402184329ASXL3c.3097A>C (p.Lys1033Gln)
c.3094A>C (p.Lys1032Gln)
c.*2218A>C (n.*2218A>C)
c.*2753A>C (n.*2753A>C)
c.3306A>C (n.3306A>C)
c.2926A>C (p.Lys976Gln)
c.2974A>C (p.Lys992Gln)
c.3070A>C (p.Lys1024Gln)
c.3016A>C (p.Lys1006Gln)
c.2977A>C (p.Lys993Gln)
c.58A>C (p.Lys20Gln)
18g.33742942A>GCA402184331ASXL3c.3097A>G (p.Lys1033Glu)
c.3094A>G (p.Lys1032Glu)
c.*2218A>G (n.*2218A>G)
c.*2753A>G (n.*2753A>G)
c.3306A>G (n.3306A>G)
c.2926A>G (p.Lys976Glu)
c.2974A>G (p.Lys992Glu)
c.3070A>G (p.Lys1024Glu)
c.3016A>G (p.Lys1006Glu)
c.2977A>G (p.Lys993Glu)
c.58A>G (p.Lys20Glu)
18g.33742942A>TCA402184333ASXL3c.3097A>T (p.Lys1033Ter)
c.3094A>T (p.Lys1032Ter)
c.*2218A>T (n.*2218A>T)
c.*2753A>T (n.*2753A>T)
c.3306A>T (n.3306A>T)
c.2926A>T (p.Lys976Ter)
c.2974A>T (p.Lys992Ter)
c.3070A>T (p.Lys1024Ter)
c.3016A>T (p.Lys1006Ter)
c.2977A>T (p.Lys993Ter)
c.58A>T (p.Lys20Ter)
18g.33742944dupCA2695227391ASXL3c.3099dup (p.Pro1034ThrfsTer2)
c.3096dup (p.Pro1033ThrfsTer2)
c.*2220dup (n.*2220dup)
c.*2755dup (n.*2755dup)
c.3308dup (n.3308dup)
c.2928dup (p.Pro977ThrfsTer2)
c.2976dup (p.Pro993ThrfsTer2)
c.3072dup (p.Pro1025ThrfsTer2)
c.3018dup (p.Pro1007ThrfsTer2)
c.2979dup (p.Pro994ThrfsTer2)
c.60dup (p.Pro21ThrfsTer2)
18g.33742943A=CA2294857491ASXL3c.3098A= (p.Lys1033=)
c.3095A= (p.Lys1032=)
c.*2219A= (n.*2219A=)
c.*2754A= (n.*2754A=)
c.3307A= (n.3307A=)
c.2927A= (p.Lys976=)
c.2975A= (p.Lys992=)
c.3071A= (p.Lys1024=)
c.3017A= (p.Lys1006=)
c.2978A= (p.Lys993=)
c.59A= (p.Lys20=)
18g.33742943A>CCA402184337ASXL3c.3098A>C (p.Lys1033Thr)
c.3095A>C (p.Lys1032Thr)
c.*2219A>C (n.*2219A>C)
c.*2754A>C (n.*2754A>C)
c.3307A>C (n.3307A>C)
c.2927A>C (p.Lys976Thr)
c.2975A>C (p.Lys992Thr)
c.3071A>C (p.Lys1024Thr)
c.3017A>C (p.Lys1006Thr)
c.2978A>C (p.Lys993Thr)
c.59A>C (p.Lys20Thr)
18g.33742943A>GCA8934022ASXL3c.3098A>G (p.Lys1033Arg)
c.3095A>G (p.Lys1032Arg)
c.*2219A>G (n.*2219A>G)
c.*2754A>G (n.*2754A>G)
c.3307A>G (n.3307A>G)
c.2927A>G (p.Lys976Arg)
c.2975A>G (p.Lys992Arg)
c.3071A>G (p.Lys1024Arg)
c.3017A>G (p.Lys1006Arg)
c.2978A>G (p.Lys993Arg)
c.59A>G (p.Lys20Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33742943A>TCA402184340ASXL3c.3098A>T (p.Lys1033Ile)
c.3095A>T (p.Lys1032Ile)
c.*2219A>T (n.*2219A>T)
c.*2754A>T (n.*2754A>T)
c.3307A>T (n.3307A>T)
c.2927A>T (p.Lys976Ile)
c.2975A>T (p.Lys992Ile)
c.3071A>T (p.Lys1024Ile)
c.3017A>T (p.Lys1006Ile)
c.2978A>T (p.Lys993Ile)
c.59A>T (p.Lys20Ile)
18g.33742944A=CA2294857492ASXL3c.3099A= (p.Lys1033=)
c.3096A= (p.Lys1032=)
c.*2220A= (n.*2220A=)
c.*2755A= (n.*2755A=)
c.3308A= (n.3308A=)
c.2928A= (p.Lys976=)
c.2976A= (p.Lys992=)
c.3072A= (p.Lys1024=)
c.3018A= (p.Lys1006=)
c.2979A= (p.Lys993=)
c.60A= (p.Lys20=)
18g.33742944A>CCA297792786ASXL3c.3099A>C (p.Lys1033Asn)
c.3096A>C (p.Lys1032Asn)
c.*2220A>C (n.*2220A>C)
c.*2755A>C (n.*2755A>C)
c.3308A>C (n.3308A>C)
c.2928A>C (p.Lys976Asn)
c.2976A>C (p.Lys992Asn)
c.3072A>C (p.Lys1024Asn)
c.3018A>C (p.Lys1006Asn)
c.2979A>C (p.Lys993Asn)
c.60A>C (p.Lys20Asn)
dbSNP gnomAD v2
18g.33742944A>GCA503769429ASXL3c.3099A>G (p.Lys1033=)
c.3096A>G (p.Lys1032=)
c.*2220A>G (n.*2220A>G)
c.*2755A>G (n.*2755A>G)
c.3308A>G (n.3308A>G)
c.2928A>G (p.Lys976=)
c.2976A>G (p.Lys992=)
c.3072A>G (p.Lys1024=)
c.3018A>G (p.Lys1006=)
c.2979A>G (p.Lys993=)
c.60A>G (p.Lys20=)
18g.33742944A>TCA402184344ASXL3c.3099A>T (p.Lys1033Asn)
c.3096A>T (p.Lys1032Asn)
c.*2220A>T (n.*2220A>T)
c.*2755A>T (n.*2755A>T)
c.3308A>T (n.3308A>T)
c.2928A>T (p.Lys976Asn)
c.2976A>T (p.Lys992Asn)
c.3072A>T (p.Lys1024Asn)
c.3018A>T (p.Lys1006Asn)
c.2979A>T (p.Lys993Asn)
c.60A>T (p.Lys20Asn)
18g.33742945C>ACA402184347ASXL3c.3100C>A (p.Pro1034Thr)
c.3097C>A (p.Pro1033Thr)
c.*2221C>A (n.*2221C>A)
c.*2756C>A (n.*2756C>A)
c.3309C>A (n.3309C>A)
c.2929C>A (p.Pro977Thr)
c.2977C>A (p.Pro993Thr)
c.3073C>A (p.Pro1025Thr)
c.3019C>A (p.Pro1007Thr)
c.2980C>A (p.Pro994Thr)
c.61C>A (p.Pro21Thr)
18g.33742945C>GCA402184351ASXL3c.3100C>G (p.Pro1034Ala)
c.3097C>G (p.Pro1033Ala)
c.*2221C>G (n.*2221C>G)
c.*2756C>G (n.*2756C>G)
c.3309C>G (n.3309C>G)
c.2929C>G (p.Pro977Ala)
c.2977C>G (p.Pro993Ala)
c.3073C>G (p.Pro1025Ala)
c.3019C>G (p.Pro1007Ala)
c.2980C>G (p.Pro994Ala)
c.61C>G (p.Pro21Ala)
18g.33742945C>TCA402184349ASXL3c.3100C>T (p.Pro1034Ser)
c.3097C>T (p.Pro1033Ser)
c.*2221C>T (n.*2221C>T)
c.*2756C>T (n.*2756C>T)
c.3309C>T (n.3309C>T)
c.2929C>T (p.Pro977Ser)
c.2977C>T (p.Pro993Ser)
c.3073C>T (p.Pro1025Ser)
c.3019C>T (p.Pro1007Ser)
c.2980C>T (p.Pro994Ser)
c.61C>T (p.Pro21Ser)
gnomAD v4
18g.33742946C>ACA402184355ASXL3c.3101C>A (p.Pro1034His)
c.3098C>A (p.Pro1033His)
c.*2222C>A (n.*2222C>A)
c.*2757C>A (n.*2757C>A)
c.3310C>A (n.3310C>A)
c.2930C>A (p.Pro977His)
c.2978C>A (p.Pro993His)
c.3074C>A (p.Pro1025His)
c.3020C>A (p.Pro1007His)
c.2981C>A (p.Pro994His)
c.62C>A (p.Pro21His)
18g.33742946C=CA2294857493ASXL3c.3101C= (p.Pro1034=)
c.3098C= (p.Pro1033=)
c.*2222C= (n.*2222C=)
c.*2757C= (n.*2757C=)
c.3310C= (n.3310C=)
c.2930C= (p.Pro977=)
c.2978C= (p.Pro993=)
c.3074C= (p.Pro1025=)
c.3020C= (p.Pro1007=)
c.2981C= (p.Pro994=)
c.62C= (p.Pro21=)
18g.33742946C>GCA402184356ASXL3c.3101C>G (p.Pro1034Arg)
c.3098C>G (p.Pro1033Arg)
c.*2222C>G (n.*2222C>G)
c.*2757C>G (n.*2757C>G)
c.3310C>G (n.3310C>G)
c.2930C>G (p.Pro977Arg)
c.2978C>G (p.Pro993Arg)
c.3074C>G (p.Pro1025Arg)
c.3020C>G (p.Pro1007Arg)
c.2981C>G (p.Pro994Arg)
c.62C>G (p.Pro21Arg)
dbSNP
18g.33742946C>TCA402184359ASXL3c.3101C>T (p.Pro1034Leu)
c.3098C>T (p.Pro1033Leu)
c.*2222C>T (n.*2222C>T)
c.*2757C>T (n.*2757C>T)
c.3310C>T (n.3310C>T)
c.2930C>T (p.Pro977Leu)
c.2978C>T (p.Pro993Leu)
c.3074C>T (p.Pro1025Leu)
c.3020C>T (p.Pro1007Leu)
c.2981C>T (p.Pro994Leu)
c.62C>T (p.Pro21Leu)
gnomAD v4
18g.33742947T>ACA503769430ASXL3c.3102T>A (p.Pro1034=)
c.3099T>A (p.Pro1033=)
c.*2223T>A (n.*2223T>A)
c.*2758T>A (n.*2758T>A)
c.3311T>A (n.3311T>A)
c.2931T>A (p.Pro977=)
c.2979T>A (p.Pro993=)
c.3075T>A (p.Pro1025=)
c.3021T>A (p.Pro1007=)
c.2982T>A (p.Pro994=)
c.63T>A (p.Pro21=)
18g.33742947T>CCA503769431ASXL3c.3102T>C (p.Pro1034=)
c.3099T>C (p.Pro1033=)
c.*2223T>C (n.*2223T>C)
c.*2758T>C (n.*2758T>C)
c.3311T>C (n.3311T>C)
c.2931T>C (p.Pro977=)
c.2979T>C (p.Pro993=)
c.3075T>C (p.Pro1025=)
c.3021T>C (p.Pro1007=)
c.2982T>C (p.Pro994=)
c.63T>C (p.Pro21=)
18g.33742947T>GCA503769432ASXL3c.3102T>G (p.Pro1034=)
c.3099T>G (p.Pro1033=)
c.*2223T>G (n.*2223T>G)
c.*2758T>G (n.*2758T>G)
c.3311T>G (n.3311T>G)
c.2931T>G (p.Pro977=)
c.2979T>G (p.Pro993=)
c.3075T>G (p.Pro1025=)
c.3021T>G (p.Pro1007=)
c.2982T>G (p.Pro994=)
c.63T>G (p.Pro21=)
18g.33742948G>ACA402184362ASXL3c.3103G>A (p.Glu1035Lys)
c.3100G>A (p.Glu1034Lys)
c.*2224G>A (n.*2224G>A)
c.*2759G>A (n.*2759G>A)
c.3312G>A (n.3312G>A)
c.2932G>A (p.Glu978Lys)
c.2980G>A (p.Glu994Lys)
c.3076G>A (p.Glu1026Lys)
c.3022G>A (p.Glu1008Lys)
c.2983G>A (p.Glu995Lys)
c.64G>A (p.Glu22Lys)
18g.33742948G>CCA402184364ASXL3c.3103G>C (p.Glu1035Gln)
c.3100G>C (p.Glu1034Gln)
c.*2224G>C (n.*2224G>C)
c.*2759G>C (n.*2759G>C)
c.3312G>C (n.3312G>C)
c.2932G>C (p.Glu978Gln)
c.2980G>C (p.Glu994Gln)
c.3076G>C (p.Glu1026Gln)
c.3022G>C (p.Glu1008Gln)
c.2983G>C (p.Glu995Gln)
c.64G>C (p.Glu22Gln)
18g.33742948G>TCA402184366ASXL3c.3103G>T (p.Glu1035Ter)
c.3100G>T (p.Glu1034Ter)
c.*2224G>T (n.*2224G>T)
c.*2759G>T (n.*2759G>T)
c.3312G>T (n.3312G>T)
c.2932G>T (p.Glu978Ter)
c.2980G>T (p.Glu994Ter)
c.3076G>T (p.Glu1026Ter)
c.3022G>T (p.Glu1008Ter)
c.2983G>T (p.Glu995Ter)
c.64G>T (p.Glu22Ter)
18g.33742949A>CCA402184369ASXL3c.3104A>C (p.Glu1035Ala)
c.3101A>C (p.Glu1034Ala)
c.*2225A>C (n.*2225A>C)
c.*2760A>C (n.*2760A>C)
c.3313A>C (n.3313A>C)
c.2933A>C (p.Glu978Ala)
c.2981A>C (p.Glu994Ala)
c.3077A>C (p.Glu1026Ala)
c.3023A>C (p.Glu1008Ala)
c.2984A>C (p.Glu995Ala)
c.65A>C (p.Glu22Ala)
18g.33742949A>GCA402184370ASXL3c.3104A>G (p.Glu1035Gly)
c.3101A>G (p.Glu1034Gly)
c.*2225A>G (n.*2225A>G)
c.*2760A>G (n.*2760A>G)
c.3313A>G (n.3313A>G)
c.2933A>G (p.Glu978Gly)
c.2981A>G (p.Glu994Gly)
c.3077A>G (p.Glu1026Gly)
c.3023A>G (p.Glu1008Gly)
c.2984A>G (p.Glu995Gly)
c.65A>G (p.Glu22Gly)
18g.33742949A>TCA402184372ASXL3c.3104A>T (p.Glu1035Val)
c.3101A>T (p.Glu1034Val)
c.*2225A>T (n.*2225A>T)
c.*2760A>T (n.*2760A>T)
c.3313A>T (n.3313A>T)
c.2933A>T (p.Glu978Val)
c.2981A>T (p.Glu994Val)
c.3077A>T (p.Glu1026Val)
c.3023A>T (p.Glu1008Val)
c.2984A>T (p.Glu995Val)
c.65A>T (p.Glu22Val)
18g.33742950G>ACA503769433ASXL3c.3105G>A (p.Glu1035=)
c.3102G>A (p.Glu1034=)
c.*2226G>A (n.*2226G>A)
c.*2761G>A (n.*2761G>A)
c.3314G>A (n.3314G>A)
c.2934G>A (p.Glu978=)
c.2982G>A (p.Glu994=)
c.3078G>A (p.Glu1026=)
c.3024G>A (p.Glu1008=)
c.2985G>A (p.Glu995=)
c.66G>A (p.Glu22=)
18g.33742950G>CCA402184375ASXL3c.3105G>C (p.Glu1035Asp)
c.3102G>C (p.Glu1034Asp)
c.*2226G>C (n.*2226G>C)
c.*2761G>C (n.*2761G>C)
c.3314G>C (n.3314G>C)
c.2934G>C (p.Glu978Asp)
c.2982G>C (p.Glu994Asp)
c.3078G>C (p.Glu1026Asp)
c.3024G>C (p.Glu1008Asp)
c.2985G>C (p.Glu995Asp)
c.66G>C (p.Glu22Asp)
18g.33742950G>TCA402184378ASXL3c.3105G>T (p.Glu1035Asp)
c.3102G>T (p.Glu1034Asp)
c.*2226G>T (n.*2226G>T)
c.*2761G>T (n.*2761G>T)
c.3314G>T (n.3314G>T)
c.2934G>T (p.Glu978Asp)
c.2982G>T (p.Glu994Asp)
c.3078G>T (p.Glu1026Asp)
c.3024G>T (p.Glu1008Asp)
c.2985G>T (p.Glu995Asp)
c.66G>T (p.Glu22Asp)
18g.33742951T>ACA402184383ASXL3c.3106T>A (p.Ser1036Thr)
c.3103T>A (p.Ser1035Thr)
c.*2227T>A (n.*2227T>A)
c.*2762T>A (n.*2762T>A)
c.3315T>A (n.3315T>A)
c.2935T>A (p.Ser979Thr)
c.2983T>A (p.Ser995Thr)
c.3079T>A (p.Ser1027Thr)
c.3025T>A (p.Ser1009Thr)
c.2986T>A (p.Ser996Thr)
c.67T>A (p.Ser23Thr)
18g.33742951T>CCA402184381ASXL3c.3106T>C (p.Ser1036Pro)
c.3103T>C (p.Ser1035Pro)
c.*2227T>C (n.*2227T>C)
c.*2762T>C (n.*2762T>C)
c.3315T>C (n.3315T>C)
c.2935T>C (p.Ser979Pro)
c.2983T>C (p.Ser995Pro)
c.3079T>C (p.Ser1027Pro)
c.3025T>C (p.Ser1009Pro)
c.2986T>C (p.Ser996Pro)
c.67T>C (p.Ser23Pro)
18g.33742951T>GCA402184379ASXL3c.3106T>G (p.Ser1036Ala)
c.3103T>G (p.Ser1035Ala)
c.*2227T>G (n.*2227T>G)
c.*2762T>G (n.*2762T>G)
c.3315T>G (n.3315T>G)
c.2935T>G (p.Ser979Ala)
c.2983T>G (p.Ser995Ala)
c.3079T>G (p.Ser1027Ala)
c.3025T>G (p.Ser1009Ala)
c.2986T>G (p.Ser996Ala)
c.67T>G (p.Ser23Ala)
18g.33742952C>ACA402184384ASXL3c.3107C>A (p.Ser1036Tyr)
c.3104C>A (p.Ser1035Tyr)
c.*2228C>A (n.*2228C>A)
c.*2763C>A (n.*2763C>A)
c.3316C>A (n.3316C>A)
c.2936C>A (p.Ser979Tyr)
c.2984C>A (p.Ser995Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3026C>A (p.Ser1009Tyr)
c.2987C>A (p.Ser996Tyr)
c.68C>A (p.Ser23Tyr)
18g.33742952C=CA2294857494ASXL3c.3107C= (p.Ser1036=)
c.3104C= (p.Ser1035=)
c.*2228C= (n.*2228C=)
c.*2763C= (n.*2763C=)
c.3316C= (n.3316C=)
c.2936C= (p.Ser979=)
c.2984C= (p.Ser995=)
c.3080C= (p.Ser1027=)
c.3026C= (p.Ser1009=)
c.2987C= (p.Ser996=)
c.68C= (p.Ser23=)
18g.33742952C>GCA402184387ASXL3c.3107C>G (p.Ser1036Cys)
c.3104C>G (p.Ser1035Cys)
c.*2228C>G (n.*2228C>G)
c.*2763C>G (n.*2763C>G)
c.3316C>G (n.3316C>G)
c.2936C>G (p.Ser979Cys)
c.2984C>G (p.Ser995Cys)
c.3080C>G (p.Ser1027Cys)
c.3026C>G (p.Ser1009Cys)
c.2987C>G (p.Ser996Cys)
c.68C>G (p.Ser23Cys)
18g.33742952C>TCA8934023ASXL3c.3107C>T (p.Ser1036Phe)
c.3104C>T (p.Ser1035Phe)
c.*2228C>T (n.*2228C>T)
c.*2763C>T (n.*2763C>T)
c.3316C>T (n.3316C>T)
c.2936C>T (p.Ser979Phe)
c.2984C>T (p.Ser995Phe)
c.3080C>T (p.Ser1027Phe)
c.3026C>T (p.Ser1009Phe)
c.2987C>T (p.Ser996Phe)
c.68C>T (p.Ser23Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33742953T>ACA503769436ASXL3c.3108T>A (p.Ser1036=)
c.3105T>A (p.Ser1035=)
c.*2229T>A (n.*2229T>A)
c.*2764T>A (n.*2764T>A)
c.3317T>A (n.3317T>A)
c.2937T>A (p.Ser979=)
c.2985T>A (p.Ser995=)
c.3081T>A (p.Ser1027=)
c.3027T>A (p.Ser1009=)
c.2988T>A (p.Ser996=)
c.69T>A (p.Ser23=)
18g.33742953T>CCA503769434ASXL3c.3108T>C (p.Ser1036=)
c.3105T>C (p.Ser1035=)
c.*2229T>C (n.*2229T>C)
c.*2764T>C (n.*2764T>C)
c.3317T>C (n.3317T>C)
c.2937T>C (p.Ser979=)
c.2985T>C (p.Ser995=)
c.3081T>C (p.Ser1027=)
c.3027T>C (p.Ser1009=)
c.2988T>C (p.Ser996=)
c.69T>C (p.Ser23=)
18g.33742953T>GCA503769435ASXL3c.3108T>G (p.Ser1036=)
c.3105T>G (p.Ser1035=)
c.*2229T>G (n.*2229T>G)
c.*2764T>G (n.*2764T>G)
c.3317T>G (n.3317T>G)
c.2937T>G (p.Ser979=)
c.2985T>G (p.Ser995=)
c.3081T>G (p.Ser1027=)
c.3027T>G (p.Ser1009=)
c.2988T>G (p.Ser996=)
c.69T>G (p.Ser23=)
18g.33742954C>ACA503769437ASXL3c.3109C>A (p.Arg1037=)
c.3106C>A (p.Arg1036=)
c.*2230C>A (n.*2230C>A)
c.*2765C>A (n.*2765C>A)
c.3318C>A (n.3318C>A)
c.2938C>A (p.Arg980=)
c.2986C>A (p.Arg996=)
c.3082C>A (p.Arg1028=)
c.3028C>A (p.Arg1010=)
c.2989C>A (p.Arg997=)
c.70C>A (p.Arg24=)
18g.33742954C=CA2294857495ASXL3c.3109C= (p.Arg1037=)
c.3106C= (p.Arg1036=)
c.*2230C= (n.*2230C=)
c.*2765C= (n.*2765C=)
c.3318C= (n.3318C=)
c.2938C= (p.Arg980=)
c.2986C= (p.Arg996=)
c.3082C= (p.Arg1028=)
c.3028C= (p.Arg1010=)
c.2989C= (p.Arg997=)
c.70C= (p.Arg24=)
18g.33742954C>GCA402184391ASXL3c.3109C>G (p.Arg1037Gly)
c.3106C>G (p.Arg1036Gly)
c.*2230C>G (n.*2230C>G)
c.*2765C>G (n.*2765C>G)
c.3318C>G (n.3318C>G)
c.2938C>G (p.Arg980Gly)
c.2986C>G (p.Arg996Gly)
c.3082C>G (p.Arg1028Gly)
c.3028C>G (p.Arg1010Gly)
c.2989C>G (p.Arg997Gly)
c.70C>G (p.Arg24Gly)
18g.33742954C>TCA402184392ASXL3c.3109C>T (p.Arg1037Ter)
c.3106C>T (p.Arg1036Ter)
c.*2230C>T (n.*2230C>T)
c.*2765C>T (n.*2765C>T)
c.3318C>T (n.3318C>T)
c.2938C>T (p.Arg980Ter)
c.2986C>T (p.Arg996Ter)
c.3082C>T (p.Arg1028Ter)
c.3028C>T (p.Arg1010Ter)
c.2989C>T (p.Arg997Ter)
c.70C>T (p.Arg24Ter)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
18g.33742954_33742955insCACCA2576484143ASXL3c.3109_3110insCAC (p.Ser1036_Arg1037insPro)
c.3106_3107insCAC (p.Ser1035_Arg1036insPro)
c.*2230_*2231insCAC (n.*2230_*2231insCAC)
c.*2765_*2766insCAC (n.*2765_*2766insCAC)
c.3318_3319insCAC (n.3318_3319insCAC)
c.2938_2939insCAC (p.Ser979_Arg980insPro)
c.2986_2987insCAC (p.Ser995_Arg996insPro)
c.3082_3083insCAC (p.Ser1027_Arg1028insPro)
c.3028_3029insCAC (p.Ser1009_Arg1010insPro)
c.2989_2990insCAC (p.Ser996_Arg997insPro)
c.70_71insCAC (p.Ser23_Arg24insPro)
18g.33742955G>ACA297792793ASXL3c.3110G>A (p.Arg1037Gln)
c.3107G>A (p.Arg1036Gln)
c.*2231G>A (n.*2231G>A)
c.*2766G>A (n.*2766G>A)
c.3319G>A (n.3319G>A)
c.2939G>A (p.Arg980Gln)
c.2987G>A (p.Arg996Gln)
c.3083G>A (p.Arg1028Gln)
c.3029G>A (p.Arg1010Gln)
c.2990G>A (p.Arg997Gln)
c.71G>A (p.Arg24Gln)
dbSNP gnomAD v4
18g.33742955G>CCA8934024ASXL3c.3110G>C (p.Arg1037Pro)
c.3107G>C (p.Arg1036Pro)
c.*2231G>C (n.*2231G>C)
c.*2766G>C (n.*2766G>C)
c.3319G>C (n.3319G>C)
c.2939G>C (p.Arg980Pro)
c.2987G>C (p.Arg996Pro)
c.3083G>C (p.Arg1028Pro)
c.3029G>C (p.Arg1010Pro)
c.2990G>C (p.Arg997Pro)
c.71G>C (p.Arg24Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33742955G=CA2294857496ASXL3c.3110G= (p.Arg1037=)
c.3107G= (p.Arg1036=)
c.*2231G= (n.*2231G=)
c.*2766G= (n.*2766G=)
c.3319G= (n.3319G=)
c.2939G= (p.Arg980=)
c.2987G= (p.Arg996=)
c.3083G= (p.Arg1028=)
c.3029G= (p.Arg1010=)
c.2990G= (p.Arg997=)
c.71G= (p.Arg24=)
18g.33742955G>TCA8934025ASXL3c.3110G>T (p.Arg1037Leu)
c.3107G>T (p.Arg1036Leu)
c.*2231G>T (n.*2231G>T)
c.*2766G>T (n.*2766G>T)
c.3319G>T (n.3319G>T)
c.2939G>T (p.Arg980Leu)
c.2987G>T (p.Arg996Leu)
c.3083G>T (p.Arg1028Leu)
c.3029G>T (p.Arg1010Leu)
c.2990G>T (p.Arg997Leu)
c.71G>T (p.Arg24Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.33742956A>CCA503769438ASXL3c.3111A>C (p.Arg1037=)
c.3108A>C (p.Arg1036=)
c.*2232A>C (n.*2232A>C)
c.*2767A>C (n.*2767A>C)
c.3320A>C (n.3320A>C)
c.2940A>C (p.Arg980=)
c.2988A>C (p.Arg996=)
c.3084A>C (p.Arg1028=)
c.3030A>C (p.Arg1010=)
c.2991A>C (p.Arg997=)
c.72A>C (p.Arg24=)
18g.33742956A>GCA503769440ASXL3c.3111A>G (p.Arg1037=)
c.3108A>G (p.Arg1036=)
c.*2232A>G (n.*2232A>G)
c.*2767A>G (n.*2767A>G)
c.3320A>G (n.3320A>G)
c.2940A>G (p.Arg980=)
c.2988A>G (p.Arg996=)
c.3084A>G (p.Arg1028=)
c.3030A>G (p.Arg1010=)
c.2991A>G (p.Arg997=)
c.72A>G (p.Arg24=)
gnomAD v4
18g.33742956A>TCA503769439ASXL3c.3111A>T (p.Arg1037=)
c.3108A>T (p.Arg1036=)
c.*2232A>T (n.*2232A>T)
c.*2767A>T (n.*2767A>T)
c.3320A>T (n.3320A>T)
c.2940A>T (p.Arg980=)
c.2988A>T (p.Arg996=)
c.3084A>T (p.Arg1028=)
c.3030A>T (p.Arg1010=)
c.2991A>T (p.Arg997=)
c.72A>T (p.Arg24=)
18g.33742957G>ACA8934026ASXL3c.3112G>A (p.Ala1038Thr)
c.3109G>A (p.Ala1037Thr)
c.*2233G>A (n.*2233G>A)
c.*2768G>A (n.*2768G>A)
c.3321G>A (n.3321G>A)
c.2941G>A (p.Ala981Thr)
c.2989G>A (p.Ala997Thr)
c.3085G>A (p.Ala1029Thr)
c.3031G>A (p.Ala1011Thr)
c.2992G>A (p.Ala998Thr)
c.73G>A (p.Ala25Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33742957G>CCA8934027ASXL3c.3112G>C (p.Ala1038Pro)
c.3109G>C (p.Ala1037Pro)
c.*2233G>C (n.*2233G>C)
c.*2768G>C (n.*2768G>C)
c.3321G>C (n.3321G>C)
c.2941G>C (p.Ala981Pro)
c.2989G>C (p.Ala997Pro)
c.3085G>C (p.Ala1029Pro)
c.3031G>C (p.Ala1011Pro)
c.2992G>C (p.Ala998Pro)
c.73G>C (p.Ala25Pro)
dbSNP ExAC gnomAD v2
18g.33742957G=CA2294857497ASXL3c.3112G= (p.Ala1038=)
c.3109G= (p.Ala1037=)
c.*2233G= (n.*2233G=)
c.*2768G= (n.*2768G=)
c.3321G= (n.3321G=)
c.2941G= (p.Ala981=)
c.2989G= (p.Ala997=)
c.3085G= (p.Ala1029=)
c.3031G= (p.Ala1011=)
c.2992G= (p.Ala998=)
c.73G= (p.Ala25=)
18g.33742957G>TCA402184402ASXL3c.3112G>T (p.Ala1038Ser)
c.3109G>T (p.Ala1037Ser)
c.*2233G>T (n.*2233G>T)
c.*2768G>T (n.*2768G>T)
c.3321G>T (n.3321G>T)
c.2941G>T (p.Ala981Ser)
c.2989G>T (p.Ala997Ser)
c.3085G>T (p.Ala1029Ser)
c.3031G>T (p.Ala1011Ser)
c.2992G>T (p.Ala998Ser)
c.73G>T (p.Ala25Ser)
18g.33742958C>ACA402184409ASXL3c.3113C>A (p.Ala1038Glu)
c.3110C>A (p.Ala1037Glu)
c.*2234C>A (n.*2234C>A)
c.*2769C>A (n.*2769C>A)
c.3322C>A (n.3322C>A)
c.2942C>A (p.Ala981Glu)
c.2990C>A (p.Ala997Glu)
c.3086C>A (p.Ala1029Glu)
c.3032C>A (p.Ala1011Glu)
c.2993C>A (p.Ala998Glu)
c.74C>A (p.Ala25Glu)
18g.33742958C>GCA402184407ASXL3c.3113C>G (p.Ala1038Gly)
c.3110C>G (p.Ala1037Gly)
c.*2234C>G (n.*2234C>G)
c.*2769C>G (n.*2769C>G)
c.3322C>G (n.3322C>G)
c.2942C>G (p.Ala981Gly)
c.2990C>G (p.Ala997Gly)
c.3086C>G (p.Ala1029Gly)
c.3032C>G (p.Ala1011Gly)
c.2993C>G (p.Ala998Gly)
c.74C>G (p.Ala25Gly)
18g.33742958C>TCA402184405ASXL3c.3113C>T (p.Ala1038Val)
c.3110C>T (p.Ala1037Val)
c.*2234C>T (n.*2234C>T)
c.*2769C>T (n.*2769C>T)
c.3322C>T (n.3322C>T)
c.2942C>T (p.Ala981Val)
c.2990C>T (p.Ala997Val)
c.3086C>T (p.Ala1029Val)
c.3032C>T (p.Ala1011Val)
c.2993C>T (p.Ala998Val)
c.74C>T (p.Ala25Val)
18g.33742959A>CCA503769441ASXL3c.3114A>C (p.Ala1038=)
c.3111A>C (p.Ala1037=)
c.*2235A>C (n.*2235A>C)
c.*2770A>C (n.*2770A>C)
c.3323A>C (n.3323A>C)
c.2943A>C (p.Ala981=)
c.2991A>C (p.Ala997=)
c.3087A>C (p.Ala1029=)
c.3033A>C (p.Ala1011=)
c.2994A>C (p.Ala998=)
c.75A>C (p.Ala25=)
gnomAD v4
18g.33742959A>GCA503769442ASXL3c.3114A>G (p.Ala1038=)
c.3111A>G (p.Ala1037=)
c.*2235A>G (n.*2235A>G)
c.*2770A>G (n.*2770A>G)
c.3323A>G (n.3323A>G)
c.2943A>G (p.Ala981=)
c.2991A>G (p.Ala997=)
c.3087A>G (p.Ala1029=)
c.3033A>G (p.Ala1011=)
c.2994A>G (p.Ala998=)
c.75A>G (p.Ala25=)
18g.33742959A>TCA503769443ASXL3c.3114A>T (p.Ala1038=)
c.3111A>T (p.Ala1037=)
c.*2235A>T (n.*2235A>T)
c.*2770A>T (n.*2770A>T)
c.3323A>T (n.3323A>T)
c.2943A>T (p.Ala981=)
c.2991A>T (p.Ala997=)
c.3087A>T (p.Ala1029=)
c.3033A>T (p.Ala1011=)
c.2994A>T (p.Ala998=)
c.75A>T (p.Ala25=)
18g.33742960T>ACA402184412ASXL3c.3115T>A (p.Ser1039Thr)
c.3112T>A (p.Ser1038Thr)
c.*2236T>A (n.*2236T>A)
c.*2771T>A (n.*2771T>A)
c.3324T>A (n.3324T>A)
c.2944T>A (p.Ser982Thr)
c.2992T>A (p.Ser998Thr)
c.3088T>A (p.Ser1030Thr)
c.3034T>A (p.Ser1012Thr)
c.2995T>A (p.Ser999Thr)
c.76T>A (p.Ser26Thr)
18g.33742960T>CCA402184416ASXL3c.3115T>C (p.Ser1039Pro)
c.3112T>C (p.Ser1038Pro)
c.*2236T>C (n.*2236T>C)
c.*2771T>C (n.*2771T>C)
c.3324T>C (n.3324T>C)
c.2944T>C (p.Ser982Pro)
c.2992T>C (p.Ser998Pro)
c.3088T>C (p.Ser1030Pro)
c.3034T>C (p.Ser1012Pro)
c.2995T>C (p.Ser999Pro)
c.76T>C (p.Ser26Pro)
18g.33742960T>GCA402184414ASXL3c.3115T>G (p.Ser1039Ala)
c.3112T>G (p.Ser1038Ala)
c.*2236T>G (n.*2236T>G)
c.*2771T>G (n.*2771T>G)
c.3324T>G (n.3324T>G)
c.2944T>G (p.Ser982Ala)
c.2992T>G (p.Ser998Ala)
c.3088T>G (p.Ser1030Ala)
c.3034T>G (p.Ser1012Ala)
c.2995T>G (p.Ser999Ala)
c.76T>G (p.Ser26Ala)
18g.33742961C>ACA8934028ASXL3c.3116C>A (p.Ser1039Tyr)
c.3113C>A (p.Ser1038Tyr)
c.*2237C>A (n.*2237C>A)
c.*2772C>A (n.*2772C>A)
c.3325C>A (n.3325C>A)
c.2945C>A (p.Ser982Tyr)
c.2993C>A (p.Ser998Tyr)
c.3089C>A (p.Ser1030Tyr)
c.3035C>A (p.Ser1012Tyr)
c.2996C>A (p.Ser999Tyr)
c.77C>A (p.Ser26Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33742961C=CA2294857498ASXL3c.3116C= (p.Ser1039=)
c.3113C= (p.Ser1038=)
c.*2237C= (n.*2237C=)
c.*2772C= (n.*2772C=)
c.3325C= (n.3325C=)
c.2945C= (p.Ser982=)
c.2993C= (p.Ser998=)
c.3089C= (p.Ser1030=)
c.3035C= (p.Ser1012=)
c.2996C= (p.Ser999=)
c.77C= (p.Ser26=)
18g.33742961C>GCA402184420ASXL3c.3116C>G (p.Ser1039Cys)
c.3113C>G (p.Ser1038Cys)
c.*2237C>G (n.*2237C>G)
c.*2772C>G (n.*2772C>G)
c.3325C>G (n.3325C>G)
c.2945C>G (p.Ser982Cys)
c.2993C>G (p.Ser998Cys)
c.3089C>G (p.Ser1030Cys)
c.3035C>G (p.Ser1012Cys)
c.2996C>G (p.Ser999Cys)
c.77C>G (p.Ser26Cys)
18g.33742961C>TCA402184423ASXL3c.3116C>T (p.Ser1039Phe)
c.3113C>T (p.Ser1038Phe)
c.*2237C>T (n.*2237C>T)
c.*2772C>T (n.*2772C>T)
c.3325C>T (n.3325C>T)
c.2945C>T (p.Ser982Phe)
c.2993C>T (p.Ser998Phe)
c.3089C>T (p.Ser1030Phe)
c.3035C>T (p.Ser1012Phe)
c.2996C>T (p.Ser999Phe)
c.77C>T (p.Ser26Phe)
18g.33742962C>ACA503769444ASXL3c.3117C>A (p.Ser1039=)
c.3114C>A (p.Ser1038=)
c.*2238C>A (n.*2238C>A)
c.*2773C>A (n.*2773C>A)
c.3326C>A (n.3326C>A)
c.2946C>A (p.Ser982=)
c.2994C>A (p.Ser998=)
c.3090C>A (p.Ser1030=)
c.3036C>A (p.Ser1012=)
c.2997C>A (p.Ser999=)
c.78C>A (p.Ser26=)
18g.33742962C>GCA503769445ASXL3c.3117C>G (p.Ser1039=)
c.3114C>G (p.Ser1038=)
c.*2238C>G (n.*2238C>G)
c.*2773C>G (n.*2773C>G)
c.3326C>G (n.3326C>G)
c.2946C>G (p.Ser982=)
c.2994C>G (p.Ser998=)
c.3090C>G (p.Ser1030=)
c.3036C>G (p.Ser1012=)
c.2997C>G (p.Ser999=)
c.78C>G (p.Ser26=)
18g.33742962C>TCA503769446ASXL3c.3117C>T (p.Ser1039=)
c.3114C>T (p.Ser1038=)
c.*2238C>T (n.*2238C>T)
c.*2773C>T (n.*2773C>T)
c.3326C>T (n.3326C>T)
c.2946C>T (p.Ser982=)
c.2994C>T (p.Ser998=)
c.3090C>T (p.Ser1030=)
c.3036C>T (p.Ser1012=)
c.2997C>T (p.Ser999=)
c.78C>T (p.Ser26=)
18g.33742963A>CCA402184425ASXL3c.3118A>C (p.Thr1040Pro)
c.3115A>C (p.Thr1039Pro)
c.*2239A>C (n.*2239A>C)
c.*2774A>C (n.*2774A>C)
c.3327A>C (n.3327A>C)
c.2947A>C (p.Thr983Pro)
c.2995A>C (p.Thr999Pro)
c.3091A>C (p.Thr1031Pro)
c.3037A>C (p.Thr1013Pro)
c.2998A>C (p.Thr1000Pro)
c.79A>C (p.Thr27Pro)
18g.33742963A>GCA402184427ASXL3c.3118A>G (p.Thr1040Ala)
c.3115A>G (p.Thr1039Ala)
c.*2239A>G (n.*2239A>G)
c.*2774A>G (n.*2774A>G)
c.3327A>G (n.3327A>G)
c.2947A>G (p.Thr983Ala)
c.2995A>G (p.Thr999Ala)
c.3091A>G (p.Thr1031Ala)
c.3037A>G (p.Thr1013Ala)
c.2998A>G (p.Thr1000Ala)
c.79A>G (p.Thr27Ala)
18g.33742963A>TCA402184430ASXL3c.3118A>T (p.Thr1040Ser)
c.3115A>T (p.Thr1039Ser)
c.*2239A>T (n.*2239A>T)
c.*2774A>T (n.*2774A>T)
c.3327A>T (n.3327A>T)
c.2947A>T (p.Thr983Ser)
c.2995A>T (p.Thr999Ser)
c.3091A>T (p.Thr1031Ser)
c.3037A>T (p.Thr1013Ser)
c.2998A>T (p.Thr1000Ser)
c.79A>T (p.Thr27Ser)
18g.33742964C>ACA402184432ASXL3c.3119C>A (p.Thr1040Asn)
c.3116C>A (p.Thr1039Asn)
c.*2240C>A (n.*2240C>A)
c.*2775C>A (n.*2775C>A)
c.3328C>A (n.3328C>A)
c.2948C>A (p.Thr983Asn)
c.2996C>A (p.Thr999Asn)
c.3092C>A (p.Thr1031Asn)
c.3038C>A (p.Thr1013Asn)
c.2999C>A (p.Thr1000Asn)
c.80C>A (p.Thr27Asn)
18g.33742964C=CA2294857499ASXL3c.3119C= (p.Thr1040=)
c.3116C= (p.Thr1039=)
c.*2240C= (n.*2240C=)
c.*2775C= (n.*2775C=)
c.3328C= (n.3328C=)
c.2948C= (p.Thr983=)
c.2996C= (p.Thr999=)
c.3092C= (p.Thr1031=)
c.3038C= (p.Thr1013=)
c.2999C= (p.Thr1000=)
c.80C= (p.Thr27=)
18g.33742964C>GCA402184434ASXL3c.3119C>G (p.Thr1040Ser)
c.3116C>G (p.Thr1039Ser)
c.*2240C>G (n.*2240C>G)
c.*2775C>G (n.*2775C>G)
c.3328C>G (n.3328C>G)
c.2948C>G (p.Thr983Ser)
c.2996C>G (p.Thr999Ser)
c.3092C>G (p.Thr1031Ser)
c.3038C>G (p.Thr1013Ser)
c.2999C>G (p.Thr1000Ser)
c.80C>G (p.Thr27Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.33742964C>TCA402184436ASXL3c.3119C>T (p.Thr1040Ile)
c.3116C>T (p.Thr1039Ile)
c.*2240C>T (n.*2240C>T)
c.*2775C>T (n.*2775C>T)
c.3328C>T (n.3328C>T)
c.2948C>T (p.Thr983Ile)
c.2996C>T (p.Thr999Ile)
c.3092C>T (p.Thr1031Ile)
c.3038C>T (p.Thr1013Ile)
c.2999C>T (p.Thr1000Ile)
c.80C>T (p.Thr27Ile)
gnomAD v4
18g.33742965T>ACA503769447ASXL3c.3120T>A (p.Thr1040=)
c.3117T>A (p.Thr1039=)
c.*2241T>A (n.*2241T>A)
c.*2776T>A (n.*2776T>A)
c.3329T>A (n.3329T>A)
c.2949T>A (p.Thr983=)
c.2997T>A (p.Thr999=)
c.3093T>A (p.Thr1031=)
c.3039T>A (p.Thr1013=)
c.3000T>A (p.Thr1000=)
c.81T>A (p.Thr27=)
gnomAD v4
18g.33742965T>CCA503769448ASXL3c.3120T>C (p.Thr1040=)
c.3117T>C (p.Thr1039=)
c.*2241T>C (n.*2241T>C)
c.*2776T>C (n.*2776T>C)
c.3329T>C (n.3329T>C)
c.2949T>C (p.Thr983=)
c.2997T>C (p.Thr999=)
c.3093T>C (p.Thr1031=)
c.3039T>C (p.Thr1013=)
c.3000T>C (p.Thr1000=)
c.81T>C (p.Thr27=)
18g.33742965T>GCA503769449ASXL3c.3120T>G (p.Thr1040=)
c.3117T>G (p.Thr1039=)
c.*2241T>G (n.*2241T>G)
c.*2776T>G (n.*2776T>G)
c.3329T>G (n.3329T>G)
c.2949T>G (p.Thr983=)
c.2997T>G (p.Thr999=)
c.3093T>G (p.Thr1031=)
c.3039T>G (p.Thr1013=)
c.3000T>G (p.Thr1000=)
c.81T>G (p.Thr27=)
18g.33742966A=CA2294857500ASXL3c.3121A= (p.Ser1041=)
c.3118A= (p.Ser1040=)
c.*2242A= (n.*2242A=)
c.*2777A= (n.*2777A=)
c.3330A= (n.3330A=)
c.2950A= (p.Ser984=)
c.2998A= (p.Ser1000=)
c.3094A= (p.Ser1032=)
c.3040A= (p.Ser1014=)
c.3001A= (p.Ser1001=)
c.82A= (p.Ser28=)
18g.33742966A>CCA402184439ASXL3c.3121A>C (p.Ser1041Arg)
c.3118A>C (p.Ser1040Arg)
c.*2242A>C (n.*2242A>C)
c.*2777A>C (n.*2777A>C)
c.3330A>C (n.3330A>C)
c.2950A>C (p.Ser984Arg)
c.2998A>C (p.Ser1000Arg)
c.3094A>C (p.Ser1032Arg)
c.3040A>C (p.Ser1014Arg)
c.3001A>C (p.Ser1001Arg)
c.82A>C (p.Ser28Arg)
18g.33742966A>GCA402184441ASXL3c.3121A>G (p.Ser1041Gly)
c.3118A>G (p.Ser1040Gly)
c.*2242A>G (n.*2242A>G)
c.*2777A>G (n.*2777A>G)
c.3330A>G (n.3330A>G)
c.2950A>G (p.Ser984Gly)
c.2998A>G (p.Ser1000Gly)
c.3094A>G (p.Ser1032Gly)
c.3040A>G (p.Ser1014Gly)
c.3001A>G (p.Ser1001Gly)
c.82A>G (p.Ser28Gly)
dbSNP
18g.33742966A>TCA402184443ASXL3c.3121A>T (p.Ser1041Cys)
c.3118A>T (p.Ser1040Cys)
c.*2242A>T (n.*2242A>T)
c.*2777A>T (n.*2777A>T)
c.3330A>T (n.3330A>T)
c.2950A>T (p.Ser984Cys)
c.2998A>T (p.Ser1000Cys)
c.3094A>T (p.Ser1032Cys)
c.3040A>T (p.Ser1014Cys)
c.3001A>T (p.Ser1001Cys)
c.82A>T (p.Ser28Cys)
18g.33742967G>ACA402184450ASXL3c.3122G>A (p.Ser1041Asn)
c.3119G>A (p.Ser1040Asn)
c.*2243G>A (n.*2243G>A)
c.*2778G>A (n.*2778G>A)
c.3331G>A (n.3331G>A)
c.2951G>A (p.Ser984Asn)
c.2999G>A (p.Ser1000Asn)
c.3095G>A (p.Ser1032Asn)
c.3041G>A (p.Ser1014Asn)
c.3002G>A (p.Ser1001Asn)
c.83G>A (p.Ser28Asn)
18g.33742967G>CCA402184446ASXL3c.3122G>C (p.Ser1041Thr)
c.3119G>C (p.Ser1040Thr)
c.*2243G>C (n.*2243G>C)
c.*2778G>C (n.*2778G>C)
c.3331G>C (n.3331G>C)
c.2951G>C (p.Ser984Thr)
c.2999G>C (p.Ser1000Thr)
c.3095G>C (p.Ser1032Thr)
c.3041G>C (p.Ser1014Thr)
c.3002G>C (p.Ser1001Thr)
c.83G>C (p.Ser28Thr)
gnomAD v4
18g.33742967G>TCA402184448ASXL3c.3122G>T (p.Ser1041Ile)
c.3119G>T (p.Ser1040Ile)
c.*2243G>T (n.*2243G>T)
c.*2778G>T (n.*2778G>T)
c.3331G>T (n.3331G>T)
c.2951G>T (p.Ser984Ile)
c.2999G>T (p.Ser1000Ile)
c.3095G>T (p.Ser1032Ile)
c.3041G>T (p.Ser1014Ile)
c.3002G>T (p.Ser1001Ile)
c.83G>T (p.Ser28Ile)
18g.33742968C>ACA402184453ASXL3c.3123C>A (p.Ser1041Arg)
c.3120C>A (p.Ser1040Arg)
c.*2244C>A (n.*2244C>A)
c.*2779C>A (n.*2779C>A)
c.3332C>A (n.3332C>A)
c.2952C>A (p.Ser984Arg)
c.3000C>A (p.Ser1000Arg)
c.3096C>A (p.Ser1032Arg)
c.3042C>A (p.Ser1014Arg)
c.3003C>A (p.Ser1001Arg)
c.84C>A (p.Ser28Arg)
dbSNP gnomAD v3 gnomAD v4
18g.33742968C=CA2294857501ASXL3c.3123C= (p.Ser1041=)
c.3120C= (p.Ser1040=)
c.*2244C= (n.*2244C=)
c.*2779C= (n.*2779C=)
c.3332C= (n.3332C=)
c.2952C= (p.Ser984=)
c.3000C= (p.Ser1000=)
c.3096C= (p.Ser1032=)
c.3042C= (p.Ser1014=)
c.3003C= (p.Ser1001=)
c.84C= (p.Ser28=)
18g.33742968C>GCA297792801ASXL3c.3123C>G (p.Ser1041Arg)
c.3120C>G (p.Ser1040Arg)
c.*2244C>G (n.*2244C>G)
c.*2779C>G (n.*2779C>G)
c.3332C>G (n.3332C>G)
c.2952C>G (p.Ser984Arg)
c.3000C>G (p.Ser1000Arg)
c.3096C>G (p.Ser1032Arg)
c.3042C>G (p.Ser1014Arg)
c.3003C>G (p.Ser1001Arg)
c.84C>G (p.Ser28Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.33742968C>TCA503769450ASXL3c.3123C>T (p.Ser1041=)
c.3120C>T (p.Ser1040=)
c.*2244C>T (n.*2244C>T)
c.*2779C>T (n.*2779C>T)
c.3332C>T (n.3332C>T)
c.2952C>T (p.Ser984=)
c.3000C>T (p.Ser1000=)
c.3096C>T (p.Ser1032=)
c.3042C>T (p.Ser1014=)
c.3003C>T (p.Ser1001=)
c.84C>T (p.Ser28=)
18g.33742969A>CCA402184458ASXL3c.3124A>C (p.Thr1042Pro)
c.3121A>C (p.Thr1041Pro)
c.*2245A>C (n.*2245A>C)
c.*2780A>C (n.*2780A>C)
c.3333A>C (n.3333A>C)
c.2953A>C (p.Thr985Pro)
c.3001A>C (p.Thr1001Pro)
c.3097A>C (p.Thr1033Pro)
c.3043A>C (p.Thr1015Pro)
c.3004A>C (p.Thr1002Pro)
c.85A>C (p.Thr29Pro)
18g.33742969A>GCA402184460ASXL3c.3124A>G (p.Thr1042Ala)
c.3121A>G (p.Thr1041Ala)
c.*2245A>G (n.*2245A>G)
c.*2780A>G (n.*2780A>G)
c.3333A>G (n.3333A>G)
c.2953A>G (p.Thr985Ala)
c.3001A>G (p.Thr1001Ala)
c.3097A>G (p.Thr1033Ala)
c.3043A>G (p.Thr1015Ala)
c.3004A>G (p.Thr1002Ala)
c.85A>G (p.Thr29Ala)
gnomAD v4
18g.33742969A>TCA402184462ASXL3c.3124A>T (p.Thr1042Ser)
c.3121A>T (p.Thr1041Ser)
c.*2245A>T (n.*2245A>T)
c.*2780A>T (n.*2780A>T)
c.3333A>T (n.3333A>T)
c.2953A>T (p.Thr985Ser)
c.3001A>T (p.Thr1001Ser)
c.3097A>T (p.Thr1033Ser)
c.3043A>T (p.Thr1015Ser)
c.3004A>T (p.Thr1002Ser)
c.85A>T (p.Thr29Ser)
18g.33742970C>ACA402184464ASXL3c.3125C>A (p.Thr1042Lys)
c.3122C>A (p.Thr1041Lys)
c.*2246C>A (n.*2246C>A)
c.*2781C>A (n.*2781C>A)
c.3334C>A (n.3334C>A)
c.2954C>A (p.Thr985Lys)
c.3002C>A (p.Thr1001Lys)
c.3098C>A (p.Thr1033Lys)
c.3044C>A (p.Thr1015Lys)
c.3005C>A (p.Thr1002Lys)
c.86C>A (p.Thr29Lys)
18g.33742970C=CA2294857502ASXL3c.3125C= (p.Thr1042=)
c.3122C= (p.Thr1041=)
c.*2246C= (n.*2246C=)
c.*2781C= (n.*2781C=)
c.3334C= (n.3334C=)
c.2954C= (p.Thr985=)
c.3002C= (p.Thr1001=)
c.3098C= (p.Thr1033=)
c.3044C= (p.Thr1015=)
c.3005C= (p.Thr1002=)
c.86C= (p.Thr29=)
18g.33742970C>GCA402184465ASXL3c.3125C>G (p.Thr1042Arg)
c.3122C>G (p.Thr1041Arg)
c.*2246C>G (n.*2246C>G)
c.*2781C>G (n.*2781C>G)
c.3334C>G (n.3334C>G)
c.2954C>G (p.Thr985Arg)
c.3002C>G (p.Thr1001Arg)
c.3098C>G (p.Thr1033Arg)
c.3044C>G (p.Thr1015Arg)
c.3005C>G (p.Thr1002Arg)
c.86C>G (p.Thr29Arg)
18g.33742970C>TCA8934029ASXL3c.3125C>T (p.Thr1042Ile)
c.3122C>T (p.Thr1041Ile)
c.*2246C>T (n.*2246C>T)
c.*2781C>T (n.*2781C>T)
c.3334C>T (n.3334C>T)
c.2954C>T (p.Thr985Ile)
c.3002C>T (p.Thr1001Ile)
c.3098C>T (p.Thr1033Ile)
c.3044C>T (p.Thr1015Ile)
c.3005C>T (p.Thr1002Ile)
c.86C>T (p.Thr29Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33742971A>CCA503769451ASXL3c.3126A>C (p.Thr1042=)
c.3123A>C (p.Thr1041=)
c.*2247A>C (n.*2247A>C)
c.*2782A>C (n.*2782A>C)
c.3335A>C (n.3335A>C)
c.2955A>C (p.Thr985=)
c.3003A>C (p.Thr1001=)
c.3099A>C (p.Thr1033=)
c.3045A>C (p.Thr1015=)
c.3006A>C (p.Thr1002=)
c.87A>C (p.Thr29=)
18g.33742971A>GCA503769453ASXL3c.3126A>G (p.Thr1042=)
c.3123A>G (p.Thr1041=)
c.*2247A>G (n.*2247A>G)
c.*2782A>G (n.*2782A>G)
c.3335A>G (n.3335A>G)
c.2955A>G (p.Thr985=)
c.3003A>G (p.Thr1001=)
c.3099A>G (p.Thr1033=)
c.3045A>G (p.Thr1015=)
c.3006A>G (p.Thr1002=)
c.87A>G (p.Thr29=)
gnomAD v4
18g.33742971A>TCA503769452ASXL3c.3126A>T (p.Thr1042=)
c.3123A>T (p.Thr1041=)
c.*2247A>T (n.*2247A>T)
c.*2782A>T (n.*2782A>T)
c.3335A>T (n.3335A>T)
c.2955A>T (p.Thr985=)
c.3003A>T (p.Thr1001=)
c.3099A>T (p.Thr1033=)
c.3045A>T (p.Thr1015=)
c.3006A>T (p.Thr1002=)
c.87A>T (p.Thr29=)
18g.33742972T>ACA402184468ASXL3c.3127T>A (p.Ser1043Thr)
c.3124T>A (p.Ser1042Thr)
c.*2248T>A (n.*2248T>A)
c.*2783T>A (n.*2783T>A)
c.3336T>A (n.3336T>A)
c.2956T>A (p.Ser986Thr)
c.3004T>A (p.Ser1002Thr)
c.3100T>A (p.Ser1034Thr)
c.3046T>A (p.Ser1016Thr)
c.3007T>A (p.Ser1003Thr)
c.88T>A (p.Ser30Thr)
dbSNP
18g.33742972T>CCA8934030ASXL3c.3127T>C (p.Ser1043Pro)
c.3124T>C (p.Ser1042Pro)
c.*2248T>C (n.*2248T>C)
c.*2783T>C (n.*2783T>C)
c.3336T>C (n.3336T>C)
c.2956T>C (p.Ser986Pro)
c.3004T>C (p.Ser1002Pro)
c.3100T>C (p.Ser1034Pro)
c.3046T>C (p.Ser1016Pro)
c.3007T>C (p.Ser1003Pro)
c.88T>C (p.Ser30Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33742972T>GCA402184471ASXL3c.3127T>G (p.Ser1043Ala)
c.3124T>G (p.Ser1042Ala)
c.*2248T>G (n.*2248T>G)
c.*2783T>G (n.*2783T>G)
c.3336T>G (n.3336T>G)
c.2956T>G (p.Ser986Ala)
c.3004T>G (p.Ser1002Ala)
c.3100T>G (p.Ser1034Ala)
c.3046T>G (p.Ser1016Ala)
c.3007T>G (p.Ser1003Ala)
c.88T>G (p.Ser30Ala)
18g.33742972T=CA2294857503ASXL3c.3127T= (p.Ser1043=)
c.3124T= (p.Ser1042=)
c.*2248T= (n.*2248T=)
c.*2783T= (n.*2783T=)
c.3336T= (n.3336T=)
c.2956T= (p.Ser986=)
c.3004T= (p.Ser1002=)
c.3100T= (p.Ser1034=)
c.3046T= (p.Ser1016=)
c.3007T= (p.Ser1003=)
c.88T= (p.Ser30=)
18g.33742973C>ACA402184478ASXL3c.3128C>A (p.Ser1043Tyr)
c.3125C>A (p.Ser1042Tyr)
c.*2249C>A (n.*2249C>A)
c.*2784C>A (n.*2784C>A)
c.3337C>A (n.3337C>A)
c.2957C>A (p.Ser986Tyr)
c.3005C>A (p.Ser1002Tyr)
c.3101C>A (p.Ser1034Tyr)
c.3047C>A (p.Ser1016Tyr)
c.3008C>A (p.Ser1003Tyr)
c.89C>A (p.Ser30Tyr)
18g.33742973C>GCA402184476ASXL3c.3128C>G (p.Ser1043Cys)
c.3125C>G (p.Ser1042Cys)
c.*2249C>G (n.*2249C>G)
c.*2784C>G (n.*2784C>G)
c.3337C>G (n.3337C>G)
c.2957C>G (p.Ser986Cys)
c.3005C>G (p.Ser1002Cys)
c.3101C>G (p.Ser1034Cys)
c.3047C>G (p.Ser1016Cys)
c.3008C>G (p.Ser1003Cys)
c.89C>G (p.Ser30Cys)
18g.33742973C>TCA402184474ASXL3c.3128C>T (p.Ser1043Phe)
c.3125C>T (p.Ser1042Phe)
c.*2249C>T (n.*2249C>T)
c.*2784C>T (n.*2784C>T)
c.3337C>T (n.3337C>T)
c.2957C>T (p.Ser986Phe)
c.3005C>T (p.Ser1002Phe)
c.3101C>T (p.Ser1034Phe)
c.3047C>T (p.Ser1016Phe)
c.3008C>T (p.Ser1003Phe)
c.89C>T (p.Ser30Phe)
18g.33742974T>ACA503769454ASXL3c.3129T>A (p.Ser1043=)
c.3126T>A (p.Ser1042=)
c.*2250T>A (n.*2250T>A)
c.*2785T>A (n.*2785T>A)
c.3338T>A (n.3338T>A)
c.2958T>A (p.Ser986=)
c.3006T>A (p.Ser1002=)
c.3102T>A (p.Ser1034=)
c.3048T>A (p.Ser1016=)
c.3009T>A (p.Ser1003=)
c.90T>A (p.Ser30=)
18g.33742974T>CCA503769455ASXL3c.3129T>C (p.Ser1043=)
c.3126T>C (p.Ser1042=)
c.*2250T>C (n.*2250T>C)
c.*2785T>C (n.*2785T>C)
c.3338T>C (n.3338T>C)
c.2958T>C (p.Ser986=)
c.3006T>C (p.Ser1002=)
c.3102T>C (p.Ser1034=)
c.3048T>C (p.Ser1016=)
c.3009T>C (p.Ser1003=)
c.90T>C (p.Ser30=)
dbSNP COSMIC COSMIC
18g.33742974T>GCA503769456ASXL3c.3129T>G (p.Ser1043=)
c.3126T>G (p.Ser1042=)
c.*2250T>G (n.*2250T>G)
c.*2785T>G (n.*2785T>G)
c.3338T>G (n.3338T>G)
c.2958T>G (p.Ser986=)
c.3006T>G (p.Ser1002=)
c.3102T>G (p.Ser1034=)
c.3048T>G (p.Ser1016=)
c.3009T>G (p.Ser1003=)
c.90T>G (p.Ser30=)
18g.33742974T=CA2294857504ASXL3c.3129T= (p.Ser1043=)
c.3126T= (p.Ser1042=)
c.*2250T= (n.*2250T=)
c.*2785T= (n.*2785T=)
c.3338T= (n.3338T=)
c.2958T= (p.Ser986=)
c.3006T= (p.Ser1002=)
c.3102T= (p.Ser1034=)
c.3048T= (p.Ser1016=)
c.3009T= (p.Ser1003=)
c.90T= (p.Ser30=)
18g.33742974_33742975insCAGTCA658791350ASXL3c.3129_3130insCAGT (p.Val1044GlnfsTer?)
c.3126_3127insCAGT (p.Val1043GlnfsTer?)
c.*2250_*2251insCAGT (n.*2250_*2251insCAGT)
c.*2785_*2786insCAGT (n.*2785_*2786insCAGT)
c.3338_3339insCAGT (n.3338_3339insCAGT)
c.2958_2959insCAGT (p.Val987GlnfsTer?)
c.3006_3007insCAGT (p.Val1003GlnfsTer?)
c.3102_3103insCAGT (p.Val1035GlnfsTer?)
c.3048_3049insCAGT (p.Val1017GlnfsTer?)
c.3009_3010insCAGT (p.Val1004GlnfsTer?)
c.90_91insCAGT (p.Val31GlnfsTer?)
18g.33742975_33742976dupCA2695227392ASXL3c.3130_3131dup (p.Gly1046ValfsTer?)
c.3127_3128dup (p.Gly1045ValfsTer?)
c.*2251_*2252dup (n.*2251_*2252dup)
c.*2786_*2787dup (n.*2786_*2787dup)
c.3339_3340dup (n.3339_3340dup)
c.2959_2960dup (p.Gly989ValfsTer?)
c.3007_3008dup (p.Gly1005ValfsTer?)
c.3103_3104dup (p.Gly1037ValfsTer?)
c.3049_3050dup (p.Gly1019ValfsTer?)
c.3010_3011dup (p.Gly1006ValfsTer?)
c.91_92dup (p.Gly33ValfsTer?)
18g.33742975G>ACA402184481ASXL3c.3130G>A (p.Val1044Ile)
c.3127G>A (p.Val1043Ile)
c.*2251G>A (n.*2251G>A)
c.*2786G>A (n.*2786G>A)
c.3339G>A (n.3339G>A)
c.2959G>A (p.Val987Ile)
c.3007G>A (p.Val1003Ile)
c.3103G>A (p.Val1035Ile)
c.3049G>A (p.Val1017Ile)
c.3010G>A (p.Val1004Ile)
c.91G>A (p.Val31Ile)
dbSNP gnomAD v2 gnomAD v4
18g.33742975G>CCA402184483ASXL3c.3130G>C (p.Val1044Leu)
c.3127G>C (p.Val1043Leu)
c.*2251G>C (n.*2251G>C)
c.*2786G>C (n.*2786G>C)
c.3339G>C (n.3339G>C)
c.2959G>C (p.Val987Leu)
c.3007G>C (p.Val1003Leu)
c.3103G>C (p.Val1035Leu)
c.3049G>C (p.Val1017Leu)
c.3010G>C (p.Val1004Leu)
c.91G>C (p.Val31Leu)
gnomAD v4
18g.33742975G=CA2294857505ASXL3c.3130G= (p.Val1044=)
c.3127G= (p.Val1043=)
c.*2251G= (n.*2251G=)
c.*2786G= (n.*2786G=)
c.3339G= (n.3339G=)
c.2959G= (p.Val987=)
c.3007G= (p.Val1003=)
c.3103G= (p.Val1035=)
c.3049G= (p.Val1017=)
c.3010G= (p.Val1004=)
c.91G= (p.Val31=)
18g.33742975G>TCA402184486ASXL3c.3130G>T (p.Val1044Phe)
c.3127G>T (p.Val1043Phe)
c.*2251G>T (n.*2251G>T)
c.*2786G>T (n.*2786G>T)
c.3339G>T (n.3339G>T)
c.2959G>T (p.Val987Phe)
c.3007G>T (p.Val1003Phe)
c.3103G>T (p.Val1035Phe)
c.3049G>T (p.Val1017Phe)
c.3010G>T (p.Val1004Phe)
c.91G>T (p.Val31Phe)
18g.33742977_33742980dupCA2739291100ASXL3c.3132_3135dup (p.Gly1046GlnfsTer?)
c.3129_3132dup (p.Gly1045GlnfsTer?)
c.*2253_*2256dup (n.*2253_*2256dup)
c.*2788_*2791dup (n.*2788_*2791dup)
c.3341_3344dup (n.3341_3344dup)
c.2961_2964dup (p.Gly989GlnfsTer?)
c.3009_3012dup (p.Gly1005GlnfsTer?)
c.3105_3108dup (p.Gly1037GlnfsTer?)
c.3051_3054dup (p.Gly1019GlnfsTer?)
c.3012_3015dup (p.Gly1006GlnfsTer?)
c.93_96dup (p.Gly33GlnfsTer?)
18g.33742976T>ACA402184489ASXL3c.3131T>A (p.Val1044Asp)
c.3128T>A (p.Val1043Asp)
c.*2252T>A (n.*2252T>A)
c.*2787T>A (n.*2787T>A)
c.3340T>A (n.3340T>A)
c.2960T>A (p.Val987Asp)
c.3008T>A (p.Val1003Asp)
c.3104T>A (p.Val1035Asp)
c.3050T>A (p.Val1017Asp)
c.3011T>A (p.Val1004Asp)
c.92T>A (p.Val31Asp)
18g.33742976T>CCA402184491ASXL3c.3131T>C (p.Val1044Ala)
c.3128T>C (p.Val1043Ala)
c.*2252T>C (n.*2252T>C)
c.*2787T>C (n.*2787T>C)
c.3340T>C (n.3340T>C)
c.2960T>C (p.Val987Ala)
c.3008T>C (p.Val1003Ala)
c.3104T>C (p.Val1035Ala)
c.3050T>C (p.Val1017Ala)
c.3011T>C (p.Val1004Ala)
c.92T>C (p.Val31Ala)
gnomAD v4
18g.33742976T>GCA402184493ASXL3c.3131T>G (p.Val1044Gly)
c.3128T>G (p.Val1043Gly)
c.*2252T>G (n.*2252T>G)
c.*2787T>G (n.*2787T>G)
c.3340T>G (n.3340T>G)
c.2960T>G (p.Val987Gly)
c.3008T>G (p.Val1003Gly)
c.3104T>G (p.Val1035Gly)
c.3050T>G (p.Val1017Gly)
c.3011T>G (p.Val1004Gly)
c.92T>G (p.Val31Gly)
18g.33742977C>ACA503769457ASXL3c.3132C>A (p.Val1044=)
c.3129C>A (p.Val1043=)
c.*2253C>A (n.*2253C>A)
c.*2788C>A (n.*2788C>A)
c.3341C>A (n.3341C>A)
c.2961C>A (p.Val987=)
c.3009C>A (p.Val1003=)
c.3105C>A (p.Val1035=)
c.3051C>A (p.Val1017=)
c.3012C>A (p.Val1004=)
c.93C>A (p.Val31=)
18g.33742977C>GCA503769458ASXL3c.3132C>G (p.Val1044=)
c.3129C>G (p.Val1043=)
c.*2253C>G (n.*2253C>G)
c.*2788C>G (n.*2788C>G)
c.3341C>G (n.3341C>G)
c.2961C>G (p.Val987=)
c.3009C>G (p.Val1003=)
c.3105C>G (p.Val1035=)
c.3051C>G (p.Val1017=)
c.3012C>G (p.Val1004=)
c.93C>G (p.Val31=)
18g.33742977C>TCA503769459ASXL3c.3132C>T (p.Val1044=)
c.3129C>T (p.Val1043=)
c.*2253C>T (n.*2253C>T)
c.*2788C>T (n.*2788C>T)
c.3341C>T (n.3341C>T)
c.2961C>T (p.Val987=)
c.3009C>T (p.Val1003=)
c.3105C>T (p.Val1035=)
c.3051C>T (p.Val1017=)
c.3012C>T (p.Val1004=)
c.93C>T (p.Val31=)
18g.33742978A=CA2294857506ASXL3c.3133A= (p.Ser1045=)
c.3130A= (p.Ser1044=)
c.*2254A= (n.*2254A=)
c.*2789A= (n.*2789A=)
c.3342A= (n.3342A=)
c.2962A= (p.Ser988=)
c.3010A= (p.Ser1004=)
c.3106A= (p.Ser1036=)
c.3052A= (p.Ser1018=)
c.3013A= (p.Ser1005=)
c.94A= (p.Ser32=)
18g.33742978A>CCA402184495ASXL3c.3133A>C (p.Ser1045Arg)
c.3130A>C (p.Ser1044Arg)
c.*2254A>C (n.*2254A>C)
c.*2789A>C (n.*2789A>C)
c.3342A>C (n.3342A>C)
c.2962A>C (p.Ser988Arg)
c.3010A>C (p.Ser1004Arg)
c.3106A>C (p.Ser1036Arg)
c.3052A>C (p.Ser1018Arg)
c.3013A>C (p.Ser1005Arg)
c.94A>C (p.Ser32Arg)
gnomAD v4
18g.33742978A>GCA8934031ASXL3c.3133A>G (p.Ser1045Gly)
c.3130A>G (p.Ser1044Gly)
c.*2254A>G (n.*2254A>G)
c.*2789A>G (n.*2789A>G)
c.3342A>G (n.3342A>G)
c.2962A>G (p.Ser988Gly)
c.3010A>G (p.Ser1004Gly)
c.3106A>G (p.Ser1036Gly)
c.3052A>G (p.Ser1018Gly)
c.3013A>G (p.Ser1005Gly)
c.94A>G (p.Ser32Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33742978A>TCA402184499ASXL3c.3133A>T (p.Ser1045Cys)
c.3130A>T (p.Ser1044Cys)
c.*2254A>T (n.*2254A>T)
c.*2789A>T (n.*2789A>T)
c.3342A>T (n.3342A>T)
c.2962A>T (p.Ser988Cys)
c.3010A>T (p.Ser1004Cys)
c.3106A>T (p.Ser1036Cys)
c.3052A>T (p.Ser1018Cys)
c.3013A>T (p.Ser1005Cys)
c.94A>T (p.Ser32Cys)
18g.33742979G>ACA402184502ASXL3c.3134G>A (p.Ser1045Asn)
c.3131G>A (p.Ser1044Asn)
c.*2255G>A (n.*2255G>A)
c.*2790G>A (n.*2790G>A)
c.3343G>A (n.3343G>A)
c.2963G>A (p.Ser988Asn)
c.3011G>A (p.Ser1004Asn)
c.3107G>A (p.Ser1036Asn)
c.3053G>A (p.Ser1018Asn)
c.3014G>A (p.Ser1005Asn)
c.95G>A (p.Ser32Asn)
18g.33742979G>CCA402184504ASXL3c.3134G>C (p.Ser1045Thr)
c.3131G>C (p.Ser1044Thr)
c.*2255G>C (n.*2255G>C)
c.*2790G>C (n.*2790G>C)
c.3343G>C (n.3343G>C)
c.2963G>C (p.Ser988Thr)
c.3011G>C (p.Ser1004Thr)
c.3107G>C (p.Ser1036Thr)
c.3053G>C (p.Ser1018Thr)
c.3014G>C (p.Ser1005Thr)
c.95G>C (p.Ser32Thr)
18g.33742979G>TCA402184506ASXL3c.3134G>T (p.Ser1045Ile)
c.3131G>T (p.Ser1044Ile)
c.*2255G>T (n.*2255G>T)
c.*2790G>T (n.*2790G>T)
c.3343G>T (n.3343G>T)
c.2963G>T (p.Ser988Ile)
c.3011G>T (p.Ser1004Ile)
c.3107G>T (p.Ser1036Ile)
c.3053G>T (p.Ser1018Ile)
c.3014G>T (p.Ser1005Ile)
c.95G>T (p.Ser32Ile)
18g.33742980T>ACA402184512ASXL3c.3135T>A (p.Ser1045Arg)
c.3132T>A (p.Ser1044Arg)
c.*2256T>A (n.*2256T>A)
c.*2791T>A (n.*2791T>A)
c.3344T>A (n.3344T>A)
c.2964T>A (p.Ser988Arg)
c.3012T>A (p.Ser1004Arg)
c.3108T>A (p.Ser1036Arg)
c.3054T>A (p.Ser1018Arg)
c.3015T>A (p.Ser1005Arg)
c.96T>A (p.Ser32Arg)
18g.33742980T>CCA8934032ASXL3c.3135T>C (p.Ser1045=)
c.3132T>C (p.Ser1044=)
c.*2256T>C (n.*2256T>C)
c.*2791T>C (n.*2791T>C)
c.3344T>C (n.3344T>C)
c.2964T>C (p.Ser988=)
c.3012T>C (p.Ser1004=)
c.3108T>C (p.Ser1036=)
c.3054T>C (p.Ser1018=)
c.3015T>C (p.Ser1005=)
c.96T>C (p.Ser32=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33742980T>GCA402184510ASXL3c.3135T>G (p.Ser1045Arg)
c.3132T>G (p.Ser1044Arg)
c.*2256T>G (n.*2256T>G)
c.*2791T>G (n.*2791T>G)
c.3344T>G (n.3344T>G)
c.2964T>G (p.Ser988Arg)
c.3012T>G (p.Ser1004Arg)
c.3108T>G (p.Ser1036Arg)
c.3054T>G (p.Ser1018Arg)
c.3015T>G (p.Ser1005Arg)
c.96T>G (p.Ser32Arg)
18g.33742980T=CA2294857507ASXL3c.3135T= (p.Ser1045=)
c.3132T= (p.Ser1044=)
c.*2256T= (n.*2256T=)
c.*2791T= (n.*2791T=)
c.3344T= (n.3344T=)
c.2964T= (p.Ser988=)
c.3012T= (p.Ser1004=)
c.3108T= (p.Ser1036=)
c.3054T= (p.Ser1018=)
c.3015T= (p.Ser1005=)
c.96T= (p.Ser32=)
18g.33742981G>ACA402184514ASXL3c.3136G>A (p.Gly1046Ser)
c.3133G>A (p.Gly1045Ser)
c.*2257G>A (n.*2257G>A)
c.*2792G>A (n.*2792G>A)
c.3345G>A (n.3345G>A)
c.2965G>A (p.Gly989Ser)
c.3013G>A (p.Gly1005Ser)
c.3109G>A (p.Gly1037Ser)
c.3055G>A (p.Gly1019Ser)
c.3016G>A (p.Gly1006Ser)
c.97G>A (p.Gly33Ser)
dbSNP gnomAD v2 gnomAD v4
18g.33742981G>CCA402184516ASXL3c.3136G>C (p.Gly1046Arg)
c.3133G>C (p.Gly1045Arg)
c.*2257G>C (n.*2257G>C)
c.*2792G>C (n.*2792G>C)
c.3345G>C (n.3345G>C)
c.2965G>C (p.Gly989Arg)
c.3013G>C (p.Gly1005Arg)
c.3109G>C (p.Gly1037Arg)
c.3055G>C (p.Gly1019Arg)
c.3016G>C (p.Gly1006Arg)
c.97G>C (p.Gly33Arg)
18g.33742981G=CA2294857508ASXL3c.3136G= (p.Gly1046=)
c.3133G= (p.Gly1045=)
c.*2257G= (n.*2257G=)
c.*2792G= (n.*2792G=)
c.3345G= (n.3345G=)
c.2965G= (p.Gly989=)
c.3013G= (p.Gly1005=)
c.3109G= (p.Gly1037=)
c.3055G= (p.Gly1019=)
c.3016G= (p.Gly1006=)
c.97G= (p.Gly33=)
18g.33742981G>TCA402184517ASXL3c.3136G>T (p.Gly1046Cys)
c.3133G>T (p.Gly1045Cys)
c.*2257G>T (n.*2257G>T)
c.*2792G>T (n.*2792G>T)
c.3345G>T (n.3345G>T)
c.2965G>T (p.Gly989Cys)
c.3013G>T (p.Gly1005Cys)
c.3109G>T (p.Gly1037Cys)
c.3055G>T (p.Gly1019Cys)
c.3016G>T (p.Gly1006Cys)
c.97G>T (p.Gly33Cys)
18g.33742982G>ACA402184520ASXL3c.3137G>A (p.Gly1046Asp)
c.3134G>A (p.Gly1045Asp)
c.*2258G>A (n.*2258G>A)
c.*2793G>A (n.*2793G>A)
c.3346G>A (n.3346G>A)
c.2966G>A (p.Gly989Asp)
c.3014G>A (p.Gly1005Asp)
c.3110G>A (p.Gly1037Asp)
c.3056G>A (p.Gly1019Asp)
c.3017G>A (p.Gly1006Asp)
c.98G>A (p.Gly33Asp)
COSMIC COSMIC
18g.33742982G>CCA402184521ASXL3c.3137G>C (p.Gly1046Ala)
c.3134G>C (p.Gly1045Ala)
c.*2258G>C (n.*2258G>C)
c.*2793G>C (n.*2793G>C)
c.3346G>C (n.3346G>C)
c.2966G>C (p.Gly989Ala)
c.3014G>C (p.Gly1005Ala)
c.3110G>C (p.Gly1037Ala)
c.3056G>C (p.Gly1019Ala)
c.3017G>C (p.Gly1006Ala)
c.98G>C (p.Gly33Ala)
18g.33742982G>TCA402184523ASXL3c.3137G>T (p.Gly1046Val)
c.3134G>T (p.Gly1045Val)
c.*2258G>T (n.*2258G>T)
c.*2793G>T (n.*2793G>T)
c.3346G>T (n.3346G>T)
c.2966G>T (p.Gly989Val)
c.3014G>T (p.Gly1005Val)
c.3110G>T (p.Gly1037Val)
c.3056G>T (p.Gly1019Val)
c.3017G>T (p.Gly1006Val)
c.98G>T (p.Gly33Val)
COSMIC COSMIC
18g.33742983C>ACA503769461ASXL3c.3138C>A (p.Gly1046=)
c.3135C>A (p.Gly1045=)
c.*2259C>A (n.*2259C>A)
c.*2794C>A (n.*2794C>A)
c.3347C>A (n.3347C>A)
c.2967C>A (p.Gly989=)
c.3015C>A (p.Gly1005=)
c.3111C>A (p.Gly1037=)
c.3057C>A (p.Gly1019=)
c.3018C>A (p.Gly1006=)
c.99C>A (p.Gly33=)
18g.33742983C=CA2294857509ASXL3c.3138C= (p.Gly1046=)
c.3135C= (p.Gly1045=)
c.*2259C= (n.*2259C=)
c.*2794C= (n.*2794C=)
c.3347C= (n.3347C=)
c.2967C= (p.Gly989=)
c.3015C= (p.Gly1005=)
c.3111C= (p.Gly1037=)
c.3057C= (p.Gly1019=)
c.3018C= (p.Gly1006=)
c.99C= (p.Gly33=)
18g.33742983C>GCA503769460ASXL3c.3138C>G (p.Gly1046=)
c.3135C>G (p.Gly1045=)
c.*2259C>G (n.*2259C>G)
c.*2794C>G (n.*2794C>G)
c.3347C>G (n.3347C>G)
c.2967C>G (p.Gly989=)
c.3015C>G (p.Gly1005=)
c.3111C>G (p.Gly1037=)
c.3057C>G (p.Gly1019=)
c.3018C>G (p.Gly1006=)
c.99C>G (p.Gly33=)
18g.33742983C>TCA297792813ASXL3c.3138C>T (p.Gly1046=)
c.3135C>T (p.Gly1045=)
c.*2259C>T (n.*2259C>T)
c.*2794C>T (n.*2794C>T)
c.3347C>T (n.3347C>T)
c.2967C>T (p.Gly989=)
c.3015C>T (p.Gly1005=)
c.3111C>T (p.Gly1037=)
c.3057C>T (p.Gly1019=)
c.3018C>T (p.Gly1006=)
c.99C>T (p.Gly33=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33742984G>ACA8934033ASXL3c.3139G>A (p.Gly1047Arg)
c.3136G>A (p.Gly1046Arg)
c.*2260G>A (n.*2260G>A)
c.*2795G>A (n.*2795G>A)
c.3348G>A (n.3348G>A)
c.2968G>A (p.Gly990Arg)
c.3016G>A (p.Gly1006Arg)
c.3112G>A (p.Gly1038Arg)
c.3058G>A (p.Gly1020Arg)
c.3019G>A (p.Gly1007Arg)
c.100G>A (p.Gly34Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33742984G>CCA402184528ASXL3c.3139G>C (p.Gly1047Arg)
c.3136G>C (p.Gly1046Arg)
c.*2260G>C (n.*2260G>C)
c.*2795G>C (n.*2795G>C)
c.3348G>C (n.3348G>C)
c.2968G>C (p.Gly990Arg)
c.3016G>C (p.Gly1006Arg)
c.3112G>C (p.Gly1038Arg)
c.3058G>C (p.Gly1020Arg)
c.3019G>C (p.Gly1007Arg)
c.100G>C (p.Gly34Arg)
COSMIC COSMIC
18g.33742984G=CA2294857510ASXL3c.3139G= (p.Gly1047=)
c.3136G= (p.Gly1046=)
c.*2260G= (n.*2260G=)
c.*2795G= (n.*2795G=)
c.3348G= (n.3348G=)
c.2968G= (p.Gly990=)
c.3016G= (p.Gly1006=)
c.3112G= (p.Gly1038=)
c.3058G= (p.Gly1020=)
c.3019G= (p.Gly1007=)
c.100G= (p.Gly34=)
18g.33742984G>TCA402184531ASXL3c.3139G>T (p.Gly1047Trp)
c.3136G>T (p.Gly1046Trp)
c.*2260G>T (n.*2260G>T)
c.*2795G>T (n.*2795G>T)
c.3348G>T (n.3348G>T)
c.2968G>T (p.Gly990Trp)
c.3016G>T (p.Gly1006Trp)
c.3112G>T (p.Gly1038Trp)
c.3058G>T (p.Gly1020Trp)
c.3019G>T (p.Gly1007Trp)
c.100G>T (p.Gly34Trp)
gnomAD v4
18g.33742985G>ACA402184533ASXL3c.3140G>A (p.Gly1047Glu)
c.3137G>A (p.Gly1046Glu)
c.*2261G>A (n.*2261G>A)
c.*2796G>A (n.*2796G>A)
c.3349G>A (n.3349G>A)
c.2969G>A (p.Gly990Glu)
c.3017G>A (p.Gly1006Glu)
c.3113G>A (p.Gly1038Glu)
c.3059G>A (p.Gly1020Glu)
c.3020G>A (p.Gly1007Glu)
c.101G>A (p.Gly34Glu)
dbSNP
18g.33742985G>CCA402184535ASXL3c.3140G>C (p.Gly1047Ala)
c.3137G>C (p.Gly1046Ala)
c.*2261G>C (n.*2261G>C)
c.*2796G>C (n.*2796G>C)
c.3349G>C (n.3349G>C)
c.2969G>C (p.Gly990Ala)
c.3017G>C (p.Gly1006Ala)
c.3113G>C (p.Gly1038Ala)
c.3059G>C (p.Gly1020Ala)
c.3020G>C (p.Gly1007Ala)
c.101G>C (p.Gly34Ala)
18g.33742985G=CA2294857511ASXL3c.3140G= (p.Gly1047=)
c.3137G= (p.Gly1046=)
c.*2261G= (n.*2261G=)
c.*2796G= (n.*2796G=)
c.3349G= (n.3349G=)
c.2969G= (p.Gly990=)
c.3017G= (p.Gly1006=)
c.3113G= (p.Gly1038=)
c.3059G= (p.Gly1020=)
c.3020G= (p.Gly1007=)
c.101G= (p.Gly34=)
18g.33742985G>TCA402184537ASXL3c.3140G>T (p.Gly1047Val)
c.3137G>T (p.Gly1046Val)
c.*2261G>T (n.*2261G>T)
c.*2796G>T (n.*2796G>T)
c.3349G>T (n.3349G>T)
c.2969G>T (p.Gly990Val)
c.3017G>T (p.Gly1006Val)
c.3113G>T (p.Gly1038Val)
c.3059G>T (p.Gly1020Val)
c.3020G>T (p.Gly1007Val)
c.101G>T (p.Gly34Val)
18g.33742985_33742992delCA2573054656ASXL3c.3140_3147del (p.Gly1047AspfsTer?)
c.3137_3144del (p.Gly1046AspfsTer?)
c.*2261_*2268del (n.*2261_*2268del)
c.*2796_*2803del (n.*2796_*2803del)
c.3349_3356del (n.3349_3356del)
c.2969_2976del (p.Gly990AspfsTer?)
c.3017_3024del (p.Gly1006AspfsTer?)
c.3113_3120del (p.Gly1038AspfsTer?)
c.3059_3066del (p.Gly1020AspfsTer?)
c.3020_3027del (p.Gly1007AspfsTer?)
c.101_108del (p.Gly34AspfsTer?)
ClinVar dbSNP
18g.33742986G>ACA503769464ASXL3c.3141G>A (p.Gly1047=)
c.3138G>A (p.Gly1046=)
c.*2262G>A (n.*2262G>A)
c.*2797G>A (n.*2797G>A)
c.3350G>A (n.3350G>A)
c.2970G>A (p.Gly990=)
c.3018G>A (p.Gly1006=)
c.3114G>A (p.Gly1038=)
c.3060G>A (p.Gly1020=)
c.3021G>A (p.Gly1007=)
c.102G>A (p.Gly34=)
18g.33742986G>CCA503769463ASXL3c.3141G>C (p.Gly1047=)
c.3138G>C (p.Gly1046=)
c.*2262G>C (n.*2262G>C)
c.*2797G>C (n.*2797G>C)
c.3350G>C (n.3350G>C)
c.2970G>C (p.Gly990=)
c.3018G>C (p.Gly1006=)
c.3114G>C (p.Gly1038=)
c.3060G>C (p.Gly1020=)
c.3021G>C (p.Gly1007=)
c.102G>C (p.Gly34=)
18g.33742986G>TCA503769462ASXL3c.3141G>T (p.Gly1047=)
c.3138G>T (p.Gly1046=)
c.*2262G>T (n.*2262G>T)
c.*2797G>T (n.*2797G>T)
c.3350G>T (n.3350G>T)
c.2970G>T (p.Gly990=)
c.3018G>T (p.Gly1006=)
c.3114G>T (p.Gly1038=)
c.3060G>T (p.Gly1020=)
c.3021G>T (p.Gly1007=)
c.102G>T (p.Gly34=)
18g.33742987A=CA2294857512ASXL3c.3142A= (p.Arg1048=)
c.3139A= (p.Arg1047=)
c.*2263A= (n.*2263A=)
c.*2798A= (n.*2798A=)
c.3351A= (n.3351A=)
c.2971A= (p.Arg991=)
c.3019A= (p.Arg1007=)
c.3115A= (p.Arg1039=)
c.3061A= (p.Arg1021=)
c.3022A= (p.Arg1008=)
c.103A= (p.Arg35=)
18g.33742987A>CCA503769465ASXL3c.3142A>C (p.Arg1048=)
c.3139A>C (p.Arg1047=)
c.*2263A>C (n.*2263A>C)
c.*2798A>C (n.*2798A>C)
c.3351A>C (n.3351A>C)
c.2971A>C (p.Arg991=)
c.3019A>C (p.Arg1007=)
c.3115A>C (p.Arg1039=)
c.3061A>C (p.Arg1021=)
c.3022A>C (p.Arg1008=)
c.103A>C (p.Arg35=)
18g.33742987A>GCA8934034ASXL3c.3142A>G (p.Arg1048Gly)
c.3139A>G (p.Arg1047Gly)
c.*2263A>G (n.*2263A>G)
c.*2798A>G (n.*2798A>G)
c.3351A>G (n.3351A>G)
c.2971A>G (p.Arg991Gly)
c.3019A>G (p.Arg1007Gly)
c.3115A>G (p.Arg1039Gly)
c.3061A>G (p.Arg1021Gly)
c.3022A>G (p.Arg1008Gly)
c.103A>G (p.Arg35Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33742987A>TCA402184540ASXL3c.3142A>T (p.Arg1048Trp)
c.3139A>T (p.Arg1047Trp)
c.*2263A>T (n.*2263A>T)
c.*2798A>T (n.*2798A>T)
c.3351A>T (n.3351A>T)
c.2971A>T (p.Arg991Trp)
c.3019A>T (p.Arg1007Trp)
c.3115A>T (p.Arg1039Trp)
c.3061A>T (p.Arg1021Trp)
c.3022A>T (p.Arg1008Trp)
c.103A>T (p.Arg35Trp)
18g.33742988G>ACA402184544ASXL3c.3143G>A (p.Arg1048Lys)
c.3140G>A (p.Arg1047Lys)
c.*2264G>A (n.*2264G>A)
c.*2799G>A (n.*2799G>A)
c.3352G>A (n.3352G>A)
c.2972G>A (p.Arg991Lys)
c.3020G>A (p.Arg1007Lys)
c.3116G>A (p.Arg1039Lys)
c.3062G>A (p.Arg1021Lys)
c.3023G>A (p.Arg1008Lys)
c.104G>A (p.Arg35Lys)
gnomAD v4
18g.33742988G>CCA402184549ASXL3c.3143G>C (p.Arg1048Thr)
c.3140G>C (p.Arg1047Thr)
c.*2264G>C (n.*2264G>C)
c.*2799G>C (n.*2799G>C)
c.3352G>C (n.3352G>C)
c.2972G>C (p.Arg991Thr)
c.3020G>C (p.Arg1007Thr)
c.3116G>C (p.Arg1039Thr)
c.3062G>C (p.Arg1021Thr)
c.3023G>C (p.Arg1008Thr)
c.104G>C (p.Arg35Thr)
18g.33742988G>TCA402184547ASXL3c.3143G>T (p.Arg1048Met)
c.3140G>T (p.Arg1047Met)
c.*2264G>T (n.*2264G>T)
c.*2799G>T (n.*2799G>T)
c.3352G>T (n.3352G>T)
c.2972G>T (p.Arg991Met)
c.3020G>T (p.Arg1007Met)
c.3116G>T (p.Arg1039Met)
c.3062G>T (p.Arg1021Met)
c.3023G>T (p.Arg1008Met)
c.104G>T (p.Arg35Met)
18g.33742989G>ACA8934035ASXL3c.3144G>A (p.Arg1048=)
c.3141G>A (p.Arg1047=)
c.*2265G>A (n.*2265G>A)
c.*2800G>A (n.*2800G>A)
c.3353G>A (n.3353G>A)
c.2973G>A (p.Arg991=)
c.3021G>A (p.Arg1007=)
c.3117G>A (p.Arg1039=)
c.3063G>A (p.Arg1021=)
c.3024G>A (p.Arg1008=)
c.105G>A (p.Arg35=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33742989G>CCA402184555ASXL3c.3144G>C (p.Arg1048Ser)
c.3141G>C (p.Arg1047Ser)
c.*2265G>C (n.*2265G>C)
c.*2800G>C (n.*2800G>C)
c.3353G>C (n.3353G>C)
c.2973G>C (p.Arg991Ser)
c.3021G>C (p.Arg1007Ser)
c.3117G>C (p.Arg1039Ser)
c.3063G>C (p.Arg1021Ser)
c.3024G>C (p.Arg1008Ser)
c.105G>C (p.Arg35Ser)
18g.33742989G=CA2294857513ASXL3c.3144G= (p.Arg1048=)
c.3141G= (p.Arg1047=)
c.*2265G= (n.*2265G=)
c.*2800G= (n.*2800G=)
c.3353G= (n.3353G=)
c.2973G= (p.Arg991=)
c.3021G= (p.Arg1007=)
c.3117G= (p.Arg1039=)
c.3063G= (p.Arg1021=)
c.3024G= (p.Arg1008=)
c.105G= (p.Arg35=)
18g.33742989G>TCA402184552ASXL3c.3144G>T (p.Arg1048Ser)
c.3141G>T (p.Arg1047Ser)
c.*2265G>T (n.*2265G>T)
c.*2800G>T (n.*2800G>T)
c.3353G>T (n.3353G>T)
c.2973G>T (p.Arg991Ser)
c.3021G>T (p.Arg1007Ser)
c.3117G>T (p.Arg1039Ser)
c.3063G>T (p.Arg1021Ser)
c.3024G>T (p.Arg1008Ser)
c.105G>T (p.Arg35Ser)
18g.33742990A=CA2294857514ASXL3c.3145A= (p.Asn1049=)
c.3142A= (p.Asn1048=)
c.*2266A= (n.*2266A=)
c.*2801A= (n.*2801A=)
c.3354A= (n.3354A=)
c.2974A= (p.Asn992=)
c.3022A= (p.Asn1008=)
c.3118A= (p.Asn1040=)
c.3064A= (p.Asn1022=)
c.3025A= (p.Asn1009=)
c.106A= (p.Asn36=)
18g.33742990A>CCA402184557ASXL3c.3145A>C (p.Asn1049His)
c.3142A>C (p.Asn1048His)
c.*2266A>C (n.*2266A>C)
c.*2801A>C (n.*2801A>C)
c.3354A>C (n.3354A>C)
c.2974A>C (p.Asn992His)
c.3022A>C (p.Asn1008His)
c.3118A>C (p.Asn1040His)
c.3064A>C (p.Asn1022His)
c.3025A>C (p.Asn1009His)
c.106A>C (p.Asn36His)
18g.33742990A>GCA297792824ASXL3c.3145A>G (p.Asn1049Asp)
c.3142A>G (p.Asn1048Asp)
c.*2266A>G (n.*2266A>G)
c.*2801A>G (n.*2801A>G)
c.3354A>G (n.3354A>G)
c.2974A>G (p.Asn992Asp)
c.3022A>G (p.Asn1008Asp)
c.3118A>G (p.Asn1040Asp)
c.3064A>G (p.Asn1022Asp)
c.3025A>G (p.Asn1009Asp)
c.106A>G (p.Asn36Asp)
dbSNP gnomAD v2 gnomAD v4
18g.33742990A>TCA402184560ASXL3c.3145A>T (p.Asn1049Tyr)
c.3142A>T (p.Asn1048Tyr)
c.*2266A>T (n.*2266A>T)
c.*2801A>T (n.*2801A>T)
c.3354A>T (n.3354A>T)
c.2974A>T (p.Asn992Tyr)
c.3022A>T (p.Asn1008Tyr)
c.3118A>T (p.Asn1040Tyr)
c.3064A>T (p.Asn1022Tyr)
c.3025A>T (p.Asn1009Tyr)
c.106A>T (p.Asn36Tyr)
18g.33742991A>CCA402184564ASXL3c.3146A>C (p.Asn1049Thr)
c.3143A>C (p.Asn1048Thr)
c.*2267A>C (n.*2267A>C)
c.*2802A>C (n.*2802A>C)
c.3355A>C (n.3355A>C)
c.2975A>C (p.Asn992Thr)
c.3023A>C (p.Asn1008Thr)
c.3119A>C (p.Asn1040Thr)
c.3065A>C (p.Asn1022Thr)
c.3026A>C (p.Asn1009Thr)
c.107A>C (p.Asn36Thr)
18g.33742991A>GCA402184566ASXL3c.3146A>G (p.Asn1049Ser)
c.3143A>G (p.Asn1048Ser)
c.*2267A>G (n.*2267A>G)
c.*2802A>G (n.*2802A>G)
c.3355A>G (n.3355A>G)
c.2975A>G (p.Asn992Ser)
c.3023A>G (p.Asn1008Ser)
c.3119A>G (p.Asn1040Ser)
c.3065A>G (p.Asn1022Ser)
c.3026A>G (p.Asn1009Ser)
c.107A>G (p.Asn36Ser)
18g.33742991A>TCA402184568ASXL3c.3146A>T (p.Asn1049Ile)
c.3143A>T (p.Asn1048Ile)
c.*2267A>T (n.*2267A>T)
c.*2802A>T (n.*2802A>T)
c.3355A>T (n.3355A>T)
c.2975A>T (p.Asn992Ile)
c.3023A>T (p.Asn1008Ile)
c.3119A>T (p.Asn1040Ile)
c.3065A>T (p.Asn1022Ile)
c.3026A>T (p.Asn1009Ile)
c.107A>T (p.Asn36Ile)

Number of alleles fetched