Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33740509_33743845delinsAGAAGCCTAGGTGTAC | CA2740091793 | ASXL3 | c.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 |
18 | g.33742891C>A | CA402184063 | ASXL3 | c.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 |
18 | g.33742891C= | CA2294857477 | ASXL3 | c.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=) | |
18 | g.33742891C>G | CA402184066 | ASXL3 | c.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) | |
18 | g.33742891C>T | CA16608739 | ASXL3 | c.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 |
18 | g.33742892A>C | CA402184068 | ASXL3 | c.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) | |
18 | g.33742892A>G | CA402184070 | ASXL3 | c.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) | |
18 | g.33742892A>T | CA402184072 | ASXL3 | c.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) | |
18 | g.33742893G>A | CA503769077 | ASXL3 | c.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 |
18 | g.33742893G>C | CA402184075 | ASXL3 | c.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) | |
18 | g.33742893G>T | CA402184077 | ASXL3 | c.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) | |
18 | g.33742894C>A | CA402184084 | ASXL3 | c.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) | |
18 | g.33742894C>G | CA402184082 | ASXL3 | c.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) | |
18 | g.33742894C>T | CA402184080 | ASXL3 | c.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) | |
18 | g.33742894_33742895delinsCT | CA2294857478 | ASXL3 | c.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=) | |
18 | g.33742895T>A | CA402184087 | ASXL3 | c.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) | |
18 | g.33742895T>C | CA402184089 | ASXL3 | c.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 |
18 | g.33742895T>G | CA402184091 | ASXL3 | c.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) | |
18 | g.33742895T= | CA2294857479 | ASXL3 | c.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=) | |
18 | g.33742897del | CA2294857480 | ASXL3 | c.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 |
18 | g.33742896T>A | CA503769082 | ASXL3 | c.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=) | |
18 | g.33742896T>C | CA503769083 | ASXL3 | c.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=) | |
18 | g.33742896T>G | CA503769084 | ASXL3 | c.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=) | |
18 | g.33742897T>A | CA402184094 | ASXL3 | c.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) | |
18 | g.33742897T>C | CA402184096 | ASXL3 | c.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) | |
18 | g.33742897T>G | CA402184097 | ASXL3 | c.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) | |
18 | g.33742898C>A | CA402184100 | ASXL3 | c.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) | |
18 | g.33742898C>G | CA402184102 | ASXL3 | c.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) | |
18 | g.33742898C>T | CA402184104 | ASXL3 | c.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 |
18 | g.33742899C>A | CA503769086 | ASXL3 | c.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=) | |
18 | g.33742899C>G | CA503769087 | ASXL3 | c.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=) | |
18 | g.33742899C>T | CA503769088 | ASXL3 | c.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=) | |
18 | g.33742900A>C | CA402184107 | ASXL3 | c.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) | |
18 | g.33742900A>G | CA402184109 | ASXL3 | c.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) | |
18 | g.33742900A>T | CA402184111 | ASXL3 | c.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) | |
18 | g.33742901A= | CA2294857481 | ASXL3 | c.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=) | |
18 | g.33742901A>C | CA8934017 | ASXL3 | c.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 |
18 | g.33742901A>G | CA402184116 | ASXL3 | c.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 |
18 | g.33742901A>T | CA402184113 | ASXL3 | c.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 |
18 | g.33742902A>C | CA402184121 | ASXL3 | c.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) | |
18 | g.33742902A>G | CA503769092 | ASXL3 | c.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=) | |
18 | g.33742902A>T | CA402184123 | ASXL3 | c.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 |
18 | g.33742903A>C | CA402184125 | ASXL3 | c.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) | |
18 | g.33742903A>G | CA402184128 | ASXL3 | c.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) | |
18 | g.33742903A>T | CA402184130 | ASXL3 | c.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) | |
18 | g.33742904T>A | CA402184133 | ASXL3 | c.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) | |
18 | g.33742904T>C | CA402184135 | ASXL3 | c.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 |
18 | g.33742904T>G | CA402184137 | ASXL3 | c.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) | |
18 | g.33742904T= | CA2294857482 | ASXL3 | c.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=) | |
18 | g.33742905T>A | CA503769095 | ASXL3 | c.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=) | |
18 | g.33742905T>C | CA503769096 | ASXL3 | c.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=) | |
18 | g.33742905T>G | CA402184139 | ASXL3 | c.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) | |
18 | g.33742906G>A | CA402184142 | ASXL3 | c.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) | |
18 | g.33742906G>C | CA402184143 | ASXL3 | c.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 |
18 | g.33742906G>T | CA402184145 | ASXL3 | c.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 |
18 | g.33742907G>A | CA402184148 | ASXL3 | c.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 |
18 | g.33742907G>C | CA402184149 | ASXL3 | c.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) | |
18 | g.33742907G>T | CA402184151 | ASXL3 | c.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 |
18 | g.33742908G>A | CA503769100 | ASXL3 | c.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 |
18 | g.33742908G>C | CA503769102 | ASXL3 | c.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=) | |
18 | g.33742908G>T | CA503769101 | ASXL3 | c.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 |
18 | g.33742909C>A | CA402184155 | ASXL3 | c.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 |
18 | g.33742909C>G | CA402184159 | ASXL3 | c.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) | |
18 | g.33742909C>T | CA402184157 | ASXL3 | c.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) | |
18 | g.33742910C>A | CA402184162 | ASXL3 | c.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) | |
18 | g.33742910C= | CA2294857483 | ASXL3 | c.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=) | |
18 | g.33742910C>G | CA402184164 | ASXL3 | c.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) | |
18 | g.33742910C>T | CA402184166 | ASXL3 | c.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 |
18 | g.33742911A>C | CA503769109 | ASXL3 | c.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 |
18 | g.33742911A>G | CA503769108 | ASXL3 | c.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 |
18 | g.33742911A>T | CA503769107 | ASXL3 | c.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=) | |
18 | g.33742912C>A | CA402184169 | ASXL3 | c.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) | |
18 | g.33742912C>G | CA402184171 | ASXL3 | c.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) | |
18 | g.33742912C>T | CA402184173 | ASXL3 | c.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) | |
18 | g.33742913del | CA1139666025 | ASXL3 | c.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 |
18 | g.33742913C>A | CA402184177 | ASXL3 | c.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) | |
18 | g.33742913C>G | CA402184179 | ASXL3 | c.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) | |
18 | g.33742913C>T | CA402184180 | ASXL3 | c.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 |
18 | g.33742914T>A | CA503769112 | ASXL3 | c.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=) | |
18 | g.33742914T>C | CA503769115 | ASXL3 | c.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=) | |
18 | g.33742914T>G | CA503769113 | ASXL3 | c.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=) | |
18 | g.33742915T>A | CA402184182 | ASXL3 | c.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) | |
18 | g.33742915T>C | CA402184184 | ASXL3 | c.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) | |
18 | g.33742915T>G | CA402184187 | ASXL3 | c.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) | |
18 | g.33742916T>A | CA402184190 | ASXL3 | c.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) | |
18 | g.33742916T>C | CA402184193 | ASXL3 | c.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) | |
18 | g.33742916T>G | CA402184192 | ASXL3 | c.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) | |
18 | g.33742917T>A | CA402184195 | ASXL3 | c.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) | |
18 | g.33742917T>C | CA503769119 | ASXL3 | c.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 |
18 | g.33742917T>G | CA402184197 | ASXL3 | c.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) | |
18 | g.33742918A>C | CA402184199 | ASXL3 | c.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) | |
18 | g.33742918A>G | CA402184200 | ASXL3 | c.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 |
18 | g.33742918A>T | CA402184202 | ASXL3 | c.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) | |
18 | g.33742919T>A | CA402184205 | ASXL3 | c.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) | |
18 | g.33742919T>C | CA402184207 | ASXL3 | c.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) | |
18 | g.33742919T>G | CA402184208 | ASXL3 | c.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) | |
18 | g.33742920A>C | CA503769121 | ASXL3 | c.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=) | |
18 | g.33742920A>G | CA402184211 | ASXL3 | c.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) | |
18 | g.33742920A>T | CA503769122 | ASXL3 | c.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=) | |
18 | g.33742921A>C | CA402184214 | ASXL3 | c.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) | |
18 | g.33742921A>G | CA402184216 | ASXL3 | c.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 |
18 | g.33742921A>T | CA402184218 | ASXL3 | c.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) | |
18 | g.33742922T>A | CA402184225 | ASXL3 | c.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) | |
18 | g.33742922T>C | CA402184223 | ASXL3 | c.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) | |
18 | g.33742922T>G | CA402184221 | ASXL3 | c.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) | |
18 | g.33742923C>A | CA503769124 | ASXL3 | c.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=) | |
18 | g.33742923C>G | CA402184228 | ASXL3 | c.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) | |
18 | g.33742923C>T | CA503769125 | ASXL3 | c.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=) | |
18 | g.33742924A>C | CA402184231 | ASXL3 | c.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) | |
18 | g.33742924A>G | CA402184233 | ASXL3 | c.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) | |
18 | g.33742924A>T | CA402184235 | ASXL3 | c.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 |
18 | g.33742925A>C | CA402184238 | ASXL3 | c.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) | |
18 | g.33742925A>G | CA402184240 | ASXL3 | c.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) | |
18 | g.33742925A>T | CA402184242 | ASXL3 | c.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) | |
18 | g.33742926G>A | CA503769129 | ASXL3 | c.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=) | |
18 | g.33742926G>C | CA8934018 | ASXL3 | c.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 |
18 | g.33742926G= | CA2294857484 | ASXL3 | c.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=) | |
18 | g.33742926G>T | CA402184247 | ASXL3 | c.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 |
18 | g.33742927A>C | CA402184250 | ASXL3 | c.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) | |
18 | g.33742927A>G | CA402184252 | ASXL3 | c.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) | |
18 | g.33742927A>T | CA402184254 | ASXL3 | c.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) | |
18 | g.33742928G>A | CA402184257 | ASXL3 | c.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 |
18 | g.33742928G>C | CA402184261 | ASXL3 | c.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) | |
18 | g.33742928G= | CA2294857485 | ASXL3 | c.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=) | |
18 | g.33742928G>T | CA402184259 | ASXL3 | c.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) | |
18 | g.33742929C>A | CA402184264 | ASXL3 | c.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 |
18 | g.33742929C= | CA2294857486 | ASXL3 | c.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=) | |
18 | g.33742929C>G | CA402184266 | ASXL3 | c.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 |
18 | g.33742929C>T | CA503769130 | ASXL3 | c.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=) | |
18 | g.33742930C>A | CA402184270 | ASXL3 | c.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) | |
18 | g.33742930C>G | CA402184273 | ASXL3 | c.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) | |
18 | g.33742930C>T | CA402184271 | ASXL3 | c.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) | |
18 | g.33742931A>C | CA402184276 | ASXL3 | c.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) | |
18 | g.33742931A>G | CA402184279 | ASXL3 | c.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) | |
18 | g.33742931A>T | CA402184277 | ASXL3 | c.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) | |
18 | g.33742932A>C | CA402184281 | ASXL3 | c.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) | |
18 | g.33742932A>G | CA503769133 | ASXL3 | c.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 |
18 | g.33742932A>T | CA402184282 | ASXL3 | c.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 |
18 | g.33742933C>A | CA402184285 | ASXL3 | c.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 |
18 | g.33742933C= | CA2294857487 | ASXL3 | c.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=) | |
18 | g.33742933C>G | CA402184287 | ASXL3 | c.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) | |
18 | g.33742933C>T | CA8934019 | ASXL3 | c.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 |
18 | g.33742934C>A | CA402184291 | ASXL3 | c.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) | |
18 | g.33742934C>G | CA402184293 | ASXL3 | c.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) | |
18 | g.33742934C>T | CA402184295 | ASXL3 | c.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) | |
18 | g.33742935A= | CA2294857488 | ASXL3 | c.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=) | |
18 | g.33742935A>C | CA503769421 | ASXL3 | c.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=) | |
18 | g.33742935A>G | CA503769422 | ASXL3 | c.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 |
18 | g.33742935A>T | CA503769423 | ASXL3 | c.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=) | |
18 | g.33742936G>A | CA402184299 | ASXL3 | c.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) | |
18 | g.33742936G>C | CA402184303 | ASXL3 | c.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) | |
18 | g.33742936G>T | CA402184301 | ASXL3 | c.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) | |
18 | g.33742937T>A | CA402184306 | ASXL3 | c.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) | |
18 | g.33742937T>C | CA402184308 | ASXL3 | c.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) | |
18 | g.33742937T>G | CA402184310 | ASXL3 | c.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) | |
18 | g.33742938C>A | CA503769424 | ASXL3 | c.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=) | |
18 | g.33742938C= | CA2294857489 | ASXL3 | c.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=) | |
18 | g.33742938C>G | CA503769425 | ASXL3 | c.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=) | |
18 | g.33742938C>T | CA8934020 | ASXL3 | c.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 |
18 | g.33742939T>A | CA402184314 | ASXL3 | c.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) | |
18 | g.33742939T>C | CA402184319 | ASXL3 | c.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) | |
18 | g.33742939T>G | CA402184317 | ASXL3 | c.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) | |
18 | g.33742940C>A | CA402184322 | ASXL3 | c.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) | |
18 | g.33742940C= | CA2294857490 | ASXL3 | c.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=) | |
18 | g.33742940C>G | CA402184324 | ASXL3 | c.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) | |
18 | g.33742940C>T | CA8934021 | ASXL3 | c.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 |
18 | g.33742941C>A | CA503769426 | ASXL3 | c.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=) | |
18 | g.33742941C>G | CA503769427 | ASXL3 | c.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=) | |
18 | g.33742941C>T | CA503769428 | ASXL3 | c.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 |
18 | g.33742942A>C | CA402184329 | ASXL3 | c.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) | |
18 | g.33742942A>G | CA402184331 | ASXL3 | c.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) | |
18 | g.33742942A>T | CA402184333 | ASXL3 | c.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) | |
18 | g.33742944dup | CA2695227391 | ASXL3 | c.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) | |
18 | g.33742943A= | CA2294857491 | ASXL3 | c.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=) | |
18 | g.33742943A>C | CA402184337 | ASXL3 | c.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) | |
18 | g.33742943A>G | CA8934022 | ASXL3 | c.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 |
18 | g.33742943A>T | CA402184340 | ASXL3 | c.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) | |
18 | g.33742944A= | CA2294857492 | ASXL3 | c.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=) | |
18 | g.33742944A>C | CA297792786 | ASXL3 | c.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 |
18 | g.33742944A>G | CA503769429 | ASXL3 | c.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=) | |
18 | g.33742944A>T | CA402184344 | ASXL3 | c.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) | |
18 | g.33742945C>A | CA402184347 | ASXL3 | c.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) | |
18 | g.33742945C>G | CA402184351 | ASXL3 | c.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) | |
18 | g.33742945C>T | CA402184349 | ASXL3 | c.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 |
18 | g.33742946C>A | CA402184355 | ASXL3 | c.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) | |
18 | g.33742946C= | CA2294857493 | ASXL3 | c.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=) | |
18 | g.33742946C>G | CA402184356 | ASXL3 | c.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 |
18 | g.33742946C>T | CA402184359 | ASXL3 | c.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 |
18 | g.33742947T>A | CA503769430 | ASXL3 | c.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=) | |
18 | g.33742947T>C | CA503769431 | ASXL3 | c.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=) | |
18 | g.33742947T>G | CA503769432 | ASXL3 | c.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=) | |
18 | g.33742948G>A | CA402184362 | ASXL3 | c.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) | |
18 | g.33742948G>C | CA402184364 | ASXL3 | c.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) | |
18 | g.33742948G>T | CA402184366 | ASXL3 | c.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) | |
18 | g.33742949A>C | CA402184369 | ASXL3 | c.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) | |
18 | g.33742949A>G | CA402184370 | ASXL3 | c.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) | |
18 | g.33742949A>T | CA402184372 | ASXL3 | c.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) | |
18 | g.33742950G>A | CA503769433 | ASXL3 | c.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=) | |
18 | g.33742950G>C | CA402184375 | ASXL3 | c.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) | |
18 | g.33742950G>T | CA402184378 | ASXL3 | c.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) | |
18 | g.33742951T>A | CA402184383 | ASXL3 | c.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) | |
18 | g.33742951T>C | CA402184381 | ASXL3 | c.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) | |
18 | g.33742951T>G | CA402184379 | ASXL3 | c.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) | |
18 | g.33742952C>A | CA402184384 | ASXL3 | c.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) | |
18 | g.33742952C= | CA2294857494 | ASXL3 | c.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=) | |
18 | g.33742952C>G | CA402184387 | ASXL3 | c.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) | |
18 | g.33742952C>T | CA8934023 | ASXL3 | c.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 |
18 | g.33742953T>A | CA503769436 | ASXL3 | c.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=) | |
18 | g.33742953T>C | CA503769434 | ASXL3 | c.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=) | |
18 | g.33742953T>G | CA503769435 | ASXL3 | c.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=) | |
18 | g.33742954C>A | CA503769437 | ASXL3 | c.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=) | |
18 | g.33742954C= | CA2294857495 | ASXL3 | c.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=) | |
18 | g.33742954C>G | CA402184391 | ASXL3 | c.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) | |
18 | g.33742954C>T | CA402184392 | ASXL3 | c.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 |
18 | g.33742954_33742955insCAC | CA2576484143 | ASXL3 | c.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) | |
18 | g.33742955G>A | CA297792793 | ASXL3 | c.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 |
18 | g.33742955G>C | CA8934024 | ASXL3 | c.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 |
18 | g.33742955G= | CA2294857496 | ASXL3 | c.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=) | |
18 | g.33742955G>T | CA8934025 | ASXL3 | c.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 |
18 | g.33742956A>C | CA503769438 | ASXL3 | c.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=) | |
18 | g.33742956A>G | CA503769440 | ASXL3 | c.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 |
18 | g.33742956A>T | CA503769439 | ASXL3 | c.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=) | |
18 | g.33742957G>A | CA8934026 | ASXL3 | c.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 |
18 | g.33742957G>C | CA8934027 | ASXL3 | c.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 |
18 | g.33742957G= | CA2294857497 | ASXL3 | c.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=) | |
18 | g.33742957G>T | CA402184402 | ASXL3 | c.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) | |
18 | g.33742958C>A | CA402184409 | ASXL3 | c.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) | |
18 | g.33742958C>G | CA402184407 | ASXL3 | c.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) | |
18 | g.33742958C>T | CA402184405 | ASXL3 | c.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) | |
18 | g.33742959A>C | CA503769441 | ASXL3 | c.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 |
18 | g.33742959A>G | CA503769442 | ASXL3 | c.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=) | |
18 | g.33742959A>T | CA503769443 | ASXL3 | c.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=) | |
18 | g.33742960T>A | CA402184412 | ASXL3 | c.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) | |
18 | g.33742960T>C | CA402184416 | ASXL3 | c.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) | |
18 | g.33742960T>G | CA402184414 | ASXL3 | c.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) | |
18 | g.33742961C>A | CA8934028 | ASXL3 | c.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 |
18 | g.33742961C= | CA2294857498 | ASXL3 | c.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=) | |
18 | g.33742961C>G | CA402184420 | ASXL3 | c.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) | |
18 | g.33742961C>T | CA402184423 | ASXL3 | c.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) | |
18 | g.33742962C>A | CA503769444 | ASXL3 | c.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=) | |
18 | g.33742962C>G | CA503769445 | ASXL3 | c.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=) | |
18 | g.33742962C>T | CA503769446 | ASXL3 | c.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=) | |
18 | g.33742963A>C | CA402184425 | ASXL3 | c.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) | |
18 | g.33742963A>G | CA402184427 | ASXL3 | c.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) | |
18 | g.33742963A>T | CA402184430 | ASXL3 | c.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) | |
18 | g.33742964C>A | CA402184432 | ASXL3 | c.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) | |
18 | g.33742964C= | CA2294857499 | ASXL3 | c.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=) | |
18 | g.33742964C>G | CA402184434 | ASXL3 | c.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 |
18 | g.33742964C>T | CA402184436 | ASXL3 | c.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 |
18 | g.33742965T>A | CA503769447 | ASXL3 | c.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 |
18 | g.33742965T>C | CA503769448 | ASXL3 | c.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=) | |
18 | g.33742965T>G | CA503769449 | ASXL3 | c.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=) | |
18 | g.33742966A= | CA2294857500 | ASXL3 | c.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=) | |
18 | g.33742966A>C | CA402184439 | ASXL3 | c.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) | |
18 | g.33742966A>G | CA402184441 | ASXL3 | c.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 |
18 | g.33742966A>T | CA402184443 | ASXL3 | c.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) | |
18 | g.33742967G>A | CA402184450 | ASXL3 | c.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) | |
18 | g.33742967G>C | CA402184446 | ASXL3 | c.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 |
18 | g.33742967G>T | CA402184448 | ASXL3 | c.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) | |
18 | g.33742968C>A | CA402184453 | ASXL3 | c.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 |
18 | g.33742968C= | CA2294857501 | ASXL3 | c.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=) | |
18 | g.33742968C>G | CA297792801 | ASXL3 | c.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 |
18 | g.33742968C>T | CA503769450 | ASXL3 | c.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=) | |
18 | g.33742969A>C | CA402184458 | ASXL3 | c.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) | |
18 | g.33742969A>G | CA402184460 | ASXL3 | c.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 |
18 | g.33742969A>T | CA402184462 | ASXL3 | c.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) | |
18 | g.33742970C>A | CA402184464 | ASXL3 | c.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) | |
18 | g.33742970C= | CA2294857502 | ASXL3 | c.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=) | |
18 | g.33742970C>G | CA402184465 | ASXL3 | c.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) | |
18 | g.33742970C>T | CA8934029 | ASXL3 | c.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 |
18 | g.33742971A>C | CA503769451 | ASXL3 | c.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=) | |
18 | g.33742971A>G | CA503769453 | ASXL3 | c.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 |
18 | g.33742971A>T | CA503769452 | ASXL3 | c.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=) | |
18 | g.33742972T>A | CA402184468 | ASXL3 | c.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 |
18 | g.33742972T>C | CA8934030 | ASXL3 | c.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 |
18 | g.33742972T>G | CA402184471 | ASXL3 | c.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) | |
18 | g.33742972T= | CA2294857503 | ASXL3 | c.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=) | |
18 | g.33742973C>A | CA402184478 | ASXL3 | c.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) | |
18 | g.33742973C>G | CA402184476 | ASXL3 | c.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) | |
18 | g.33742973C>T | CA402184474 | ASXL3 | c.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) | |
18 | g.33742974T>A | CA503769454 | ASXL3 | c.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=) | |
18 | g.33742974T>C | CA503769455 | ASXL3 | c.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 |
18 | g.33742974T>G | CA503769456 | ASXL3 | c.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=) | |
18 | g.33742974T= | CA2294857504 | ASXL3 | c.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=) | |
18 | g.33742974_33742975insCAGT | CA658791350 | ASXL3 | c.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?) | |
18 | g.33742975_33742976dup | CA2695227392 | ASXL3 | c.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?) | |
18 | g.33742975G>A | CA402184481 | ASXL3 | c.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 |
18 | g.33742975G>C | CA402184483 | ASXL3 | c.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 |
18 | g.33742975G= | CA2294857505 | ASXL3 | c.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=) | |
18 | g.33742975G>T | CA402184486 | ASXL3 | c.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) | |
18 | g.33742977_33742980dup | CA2739291100 | ASXL3 | c.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?) | |
18 | g.33742976T>A | CA402184489 | ASXL3 | c.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) | |
18 | g.33742976T>C | CA402184491 | ASXL3 | c.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 |
18 | g.33742976T>G | CA402184493 | ASXL3 | c.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) | |
18 | g.33742977C>A | CA503769457 | ASXL3 | c.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=) | |
18 | g.33742977C>G | CA503769458 | ASXL3 | c.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=) | |
18 | g.33742977C>T | CA503769459 | ASXL3 | c.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=) | |
18 | g.33742978A= | CA2294857506 | ASXL3 | c.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=) | |
18 | g.33742978A>C | CA402184495 | ASXL3 | c.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 |
18 | g.33742978A>G | CA8934031 | ASXL3 | c.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 |
18 | g.33742978A>T | CA402184499 | ASXL3 | c.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) | |
18 | g.33742979G>A | CA402184502 | ASXL3 | c.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) | |
18 | g.33742979G>C | CA402184504 | ASXL3 | c.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) | |
18 | g.33742979G>T | CA402184506 | ASXL3 | c.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) | |
18 | g.33742980T>A | CA402184512 | ASXL3 | c.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) | |
18 | g.33742980T>C | CA8934032 | ASXL3 | c.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 |
18 | g.33742980T>G | CA402184510 | ASXL3 | c.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) | |
18 | g.33742980T= | CA2294857507 | ASXL3 | c.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=) | |
18 | g.33742981G>A | CA402184514 | ASXL3 | c.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 |
18 | g.33742981G>C | CA402184516 | ASXL3 | c.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) | |
18 | g.33742981G= | CA2294857508 | ASXL3 | c.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=) | |
18 | g.33742981G>T | CA402184517 | ASXL3 | c.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) | |
18 | g.33742982G>A | CA402184520 | ASXL3 | c.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 |
18 | g.33742982G>C | CA402184521 | ASXL3 | c.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) | |
18 | g.33742982G>T | CA402184523 | ASXL3 | c.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 |
18 | g.33742983C>A | CA503769461 | ASXL3 | c.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=) | |
18 | g.33742983C= | CA2294857509 | ASXL3 | c.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=) | |
18 | g.33742983C>G | CA503769460 | ASXL3 | c.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=) | |
18 | g.33742983C>T | CA297792813 | ASXL3 | c.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 |
18 | g.33742984G>A | CA8934033 | ASXL3 | c.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 |
18 | g.33742984G>C | CA402184528 | ASXL3 | c.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 |
18 | g.33742984G= | CA2294857510 | ASXL3 | c.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=) | |
18 | g.33742984G>T | CA402184531 | ASXL3 | c.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 |
18 | g.33742985G>A | CA402184533 | ASXL3 | c.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 |
18 | g.33742985G>C | CA402184535 | ASXL3 | c.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) | |
18 | g.33742985G= | CA2294857511 | ASXL3 | c.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=) | |
18 | g.33742985G>T | CA402184537 | ASXL3 | c.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) | |
18 | g.33742985_33742992del | CA2573054656 | ASXL3 | c.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 |
18 | g.33742986G>A | CA503769464 | ASXL3 | c.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=) | |
18 | g.33742986G>C | CA503769463 | ASXL3 | c.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=) | |
18 | g.33742986G>T | CA503769462 | ASXL3 | c.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=) | |
18 | g.33742987A= | CA2294857512 | ASXL3 | c.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=) | |
18 | g.33742987A>C | CA503769465 | ASXL3 | c.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=) | |
18 | g.33742987A>G | CA8934034 | ASXL3 | c.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 |
18 | g.33742987A>T | CA402184540 | ASXL3 | c.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) | |
18 | g.33742988G>A | CA402184544 | ASXL3 | c.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 |
18 | g.33742988G>C | CA402184549 | ASXL3 | c.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) | |
18 | g.33742988G>T | CA402184547 | ASXL3 | c.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) | |
18 | g.33742989G>A | CA8934035 | ASXL3 | c.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 |
18 | g.33742989G>C | CA402184555 | ASXL3 | c.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) | |
18 | g.33742989G= | CA2294857513 | ASXL3 | c.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=) | |
18 | g.33742989G>T | CA402184552 | ASXL3 | c.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) | |
18 | g.33742990A= | CA2294857514 | ASXL3 | c.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=) | |
18 | g.33742990A>C | CA402184557 | ASXL3 | c.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) | |
18 | g.33742990A>G | CA297792824 | ASXL3 | c.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 |
18 | g.33742990A>T | CA402184560 | ASXL3 | c.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) | |
18 | g.33742991A>C | CA402184564 | ASXL3 | c.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) | |
18 | g.33742991A>G | CA402184566 | ASXL3 | c.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) | |
18 | g.33742991A>T | CA402184568 | ASXL3 | c.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) |