Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28836039_28836056dup | CA2632529252 | ATXN2L | c.3002_3019dup (p.Pro1006_Gln1007insProGlnGlyAlaValPro) c.977_994dup (p.Pro331_Gln332insProGlnGlyAlaValPro) n.3376_3393dup c.197_214dup (p.Pro71_Gln72insProGlnGlyAlaValPro) c.3020_3037dup (p.Pro1012_Gln1013insProGlnGlyAlaValPro) c.2066_2083dup (n.2066_2083dup) c.271_288dup c.980_997dup (p.Pro332_Gln333insProGlnGlyAlaValPro) c.522_539dup c.3023_3040dup (p.Pro1013_Gln1014insProGlnGlyAlaValPro) c.3005_3022dup (p.Pro1007_Gln1008insProGlnGlyAlaValPro) c.2843_2860dup (p.Pro953_Gln954insProGlnGlyAlaValPro) c.2951_2968dup (p.Pro989_Gln990insProGlnGlyAlaValPro) c.2933_2950dup (p.Pro983_Gln984insProGlnGlyAlaValPro) c.2657_2674dup (p.Pro891_Gln892insProGlnGlyAlaValPro) n.3232_3249dup c.2825_2842dup (p.Pro947_Gln948insProGlnGlyAlaValPro) c.2639_2656dup (p.Pro885_Gln886insProGlnGlyAlaValPro) n.3235_3252dup c.2930_2947dup (p.Pro982_Gln983insProGlnGlyAlaValPro) c.2996_3013dup (p.Pro1004_Gln1005insProGlnGlyAlaValPro) c.2948_2965dup (p.Pro988_Gln989insProGlnGlyAlaValPro) c.2813_2830dup (p.Pro943_Gln944insProGlnGlyAlaValPro) c.2896-84_2896-67dup (n.2896-84_2896-67dup) | gnomAD v4 |
16 | g.28836045G>A | CA395409180 | ATXN2L | c.3008G>A (p.Gly1003Asp) c.983G>A (p.Gly328Asp) n.3382G>A c.203G>A (p.Gly68Asp) c.3026G>A (p.Gly1009Asp) c.2072G>A (n.2072G>A) c.277G>A c.986G>A (p.Gly329Asp) c.528G>A c.3029G>A (p.Gly1010Asp) c.3011G>A (p.Gly1004Asp) c.2849G>A (p.Gly950Asp) c.2957G>A (p.Gly986Asp) c.2939G>A (p.Gly980Asp) c.2663G>A (p.Gly888Asp) n.3238G>A c.2831G>A (p.Gly944Asp) c.2645G>A (p.Gly882Asp) n.3241G>A c.2936G>A (p.Gly979Asp) c.3002G>A (p.Gly1001Asp) c.2954G>A (p.Gly985Asp) c.2819G>A (p.Gly940Asp) c.2896-78G>A (n.2896-78G>A) | |
16 | g.28836045G>C | CA395409182 | ATXN2L | c.3008G>C (p.Gly1003Ala) c.983G>C (p.Gly328Ala) n.3382G>C c.203G>C (p.Gly68Ala) c.3026G>C (p.Gly1009Ala) c.2072G>C (n.2072G>C) c.277G>C c.986G>C (p.Gly329Ala) c.528G>C c.3029G>C (p.Gly1010Ala) c.3011G>C (p.Gly1004Ala) c.2849G>C (p.Gly950Ala) c.2957G>C (p.Gly986Ala) c.2939G>C (p.Gly980Ala) c.2663G>C (p.Gly888Ala) n.3238G>C c.2831G>C (p.Gly944Ala) c.2645G>C (p.Gly882Ala) n.3241G>C c.2936G>C (p.Gly979Ala) c.3002G>C (p.Gly1001Ala) c.2954G>C (p.Gly985Ala) c.2819G>C (p.Gly940Ala) c.2896-78G>C (n.2896-78G>C) | |
16 | g.28836045G>T | CA395409184 | ATXN2L | c.3008G>T (p.Gly1003Val) c.983G>T (p.Gly328Val) n.3382G>T c.203G>T (p.Gly68Val) c.3026G>T (p.Gly1009Val) c.2072G>T (n.2072G>T) c.277G>T c.986G>T (p.Gly329Val) c.528G>T c.3029G>T (p.Gly1010Val) c.3011G>T (p.Gly1004Val) c.2849G>T (p.Gly950Val) c.2957G>T (p.Gly986Val) c.2939G>T (p.Gly980Val) c.2663G>T (p.Gly888Val) n.3238G>T c.2831G>T (p.Gly944Val) c.2645G>T (p.Gly882Val) n.3241G>T c.2936G>T (p.Gly979Val) c.3002G>T (p.Gly1001Val) c.2954G>T (p.Gly985Val) c.2819G>T (p.Gly940Val) c.2896-78G>T (n.2896-78G>T) | |
16 | g.28836046C>A | CA494869167 | ATXN2L | c.3009C>A (p.Gly1003=) c.984C>A (p.Gly328=) n.3383C>A c.204C>A (p.Gly68=) c.3027C>A (p.Gly1009=) c.2073C>A (n.2073C>A) c.278C>A c.987C>A (p.Gly329=) c.529C>A c.3030C>A (p.Gly1010=) c.3012C>A (p.Gly1004=) c.2850C>A (p.Gly950=) c.2958C>A (p.Gly986=) c.2940C>A (p.Gly980=) c.2664C>A (p.Gly888=) n.3239C>A c.2832C>A (p.Gly944=) c.2646C>A (p.Gly882=) n.3242C>A c.2937C>A (p.Gly979=) c.3003C>A (p.Gly1001=) c.2955C>A (p.Gly985=) c.2820C>A (p.Gly940=) c.2896-77C>A (n.2896-77C>A) | gnomAD v4 |
16 | g.28836046C= | CA2215806863 | ATXN2L | c.3009C= (p.Gly1003=) c.984C= (p.Gly328=) n.3383C= c.204C= (p.Gly68=) c.3027C= (p.Gly1009=) c.2073C= (n.2073C=) c.278C= c.987C= (p.Gly329=) c.529C= c.3030C= (p.Gly1010=) c.3012C= (p.Gly1004=) c.2850C= (p.Gly950=) c.2958C= (p.Gly986=) c.2940C= (p.Gly980=) c.2664C= (p.Gly888=) n.3239C= c.2832C= (p.Gly944=) c.2646C= (p.Gly882=) n.3242C= c.2937C= (p.Gly979=) c.3003C= (p.Gly1001=) c.2955C= (p.Gly985=) c.2820C= (p.Gly940=) c.2896-77C= (n.2896-77C=) | |
16 | g.28836046C>G | CA494869169 | ATXN2L | c.3009C>G (p.Gly1003=) c.984C>G (p.Gly328=) n.3383C>G c.204C>G (p.Gly68=) c.3027C>G (p.Gly1009=) c.2073C>G (n.2073C>G) c.278C>G c.987C>G (p.Gly329=) c.529C>G c.3030C>G (p.Gly1010=) c.3012C>G (p.Gly1004=) c.2850C>G (p.Gly950=) c.2958C>G (p.Gly986=) c.2940C>G (p.Gly980=) c.2664C>G (p.Gly888=) n.3239C>G c.2832C>G (p.Gly944=) c.2646C>G (p.Gly882=) n.3242C>G c.2937C>G (p.Gly979=) c.3003C>G (p.Gly1001=) c.2955C>G (p.Gly985=) c.2820C>G (p.Gly940=) c.2896-77C>G (n.2896-77C>G) | gnomAD v4 |
16 | g.28836046C>T | CA7985156 | ATXN2L | c.3009C>T (p.Gly1003=) c.984C>T (p.Gly328=) n.3383C>T c.204C>T (p.Gly68=) c.3027C>T (p.Gly1009=) c.2073C>T (n.2073C>T) c.278C>T c.987C>T (p.Gly329=) c.529C>T c.3030C>T (p.Gly1010=) c.3012C>T (p.Gly1004=) c.2850C>T (p.Gly950=) c.2958C>T (p.Gly986=) c.2940C>T (p.Gly980=) c.2664C>T (p.Gly888=) n.3239C>T c.2832C>T (p.Gly944=) c.2646C>T (p.Gly882=) n.3242C>T c.2937C>T (p.Gly979=) c.3003C>T (p.Gly1001=) c.2955C>T (p.Gly985=) c.2820C>T (p.Gly940=) c.2896-77C>T (n.2896-77C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836047G>A | CA7985157 | ATXN2L | c.3010G>A (p.Ala1004Thr) c.985G>A (p.Ala329Thr) n.3384G>A c.205G>A (p.Ala69Thr) c.3028G>A (p.Ala1010Thr) c.2074G>A (n.2074G>A) c.279G>A c.988G>A (p.Ala330Thr) c.530G>A c.3031G>A (p.Ala1011Thr) c.3013G>A (p.Ala1005Thr) c.2851G>A (p.Ala951Thr) c.2959G>A (p.Ala987Thr) c.2941G>A (p.Ala981Thr) c.2665G>A (p.Ala889Thr) n.3240G>A c.2833G>A (p.Ala945Thr) c.2647G>A (p.Ala883Thr) n.3243G>A c.2938G>A (p.Ala980Thr) c.3004G>A (p.Ala1002Thr) c.2956G>A (p.Ala986Thr) c.2821G>A (p.Ala941Thr) c.2896-76G>A (n.2896-76G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836047G>C | CA395409188 | ATXN2L | c.3010G>C (p.Ala1004Pro) c.985G>C (p.Ala329Pro) n.3384G>C c.205G>C (p.Ala69Pro) c.3028G>C (p.Ala1010Pro) c.2074G>C (n.2074G>C) c.279G>C c.988G>C (p.Ala330Pro) c.530G>C c.3031G>C (p.Ala1011Pro) c.3013G>C (p.Ala1005Pro) c.2851G>C (p.Ala951Pro) c.2959G>C (p.Ala987Pro) c.2941G>C (p.Ala981Pro) c.2665G>C (p.Ala889Pro) n.3240G>C c.2833G>C (p.Ala945Pro) c.2647G>C (p.Ala883Pro) n.3243G>C c.2938G>C (p.Ala980Pro) c.3004G>C (p.Ala1002Pro) c.2956G>C (p.Ala986Pro) c.2821G>C (p.Ala941Pro) c.2896-76G>C (n.2896-76G>C) | dbSNP |
16 | g.28836047G= | CA2215806866 | ATXN2L | c.3010G= (p.Ala1004=) c.985G= (p.Ala329=) n.3384G= c.205G= (p.Ala69=) c.3028G= (p.Ala1010=) c.2074G= (n.2074G=) c.279G= c.988G= (p.Ala330=) c.530G= c.3031G= (p.Ala1011=) c.3013G= (p.Ala1005=) c.2851G= (p.Ala951=) c.2959G= (p.Ala987=) c.2941G= (p.Ala981=) c.2665G= (p.Ala889=) n.3240G= c.2833G= (p.Ala945=) c.2647G= (p.Ala883=) n.3243G= c.2938G= (p.Ala980=) c.3004G= (p.Ala1002=) c.2956G= (p.Ala986=) c.2821G= (p.Ala941=) c.2896-76G= (n.2896-76G=) | |
16 | g.28836047G>T | CA395409189 | ATXN2L | c.3010G>T (p.Ala1004Ser) c.985G>T (p.Ala329Ser) n.3384G>T c.205G>T (p.Ala69Ser) c.3028G>T (p.Ala1010Ser) c.2074G>T (n.2074G>T) c.279G>T c.988G>T (p.Ala330Ser) c.530G>T c.3031G>T (p.Ala1011Ser) c.3013G>T (p.Ala1005Ser) c.2851G>T (p.Ala951Ser) c.2959G>T (p.Ala987Ser) c.2941G>T (p.Ala981Ser) c.2665G>T (p.Ala889Ser) n.3240G>T c.2833G>T (p.Ala945Ser) c.2647G>T (p.Ala883Ser) n.3243G>T c.2938G>T (p.Ala980Ser) c.3004G>T (p.Ala1002Ser) c.2956G>T (p.Ala986Ser) c.2821G>T (p.Ala941Ser) c.2896-76G>T (n.2896-76G>T) | |
16 | g.28836048C>A | CA395409191 | ATXN2L | c.3011C>A (p.Ala1004Glu) c.986C>A (p.Ala329Glu) n.3385C>A c.206C>A (p.Ala69Glu) c.3029C>A (p.Ala1010Glu) c.2075C>A (n.2075C>A) c.280C>A c.989C>A (p.Ala330Glu) c.531C>A c.3032C>A (p.Ala1011Glu) c.3014C>A (p.Ala1005Glu) c.2852C>A (p.Ala951Glu) c.2960C>A (p.Ala987Glu) c.2942C>A (p.Ala981Glu) c.2666C>A (p.Ala889Glu) n.3241C>A c.2834C>A (p.Ala945Glu) c.2648C>A (p.Ala883Glu) n.3244C>A c.2939C>A (p.Ala980Glu) c.3005C>A (p.Ala1002Glu) c.2957C>A (p.Ala986Glu) c.2822C>A (p.Ala941Glu) c.2896-75C>A (n.2896-75C>A) | |
16 | g.28836048C= | CA2215806869 | ATXN2L | c.3011C= (p.Ala1004=) c.986C= (p.Ala329=) n.3385C= c.206C= (p.Ala69=) c.3029C= (p.Ala1010=) c.2075C= (n.2075C=) c.280C= c.989C= (p.Ala330=) c.531C= c.3032C= (p.Ala1011=) c.3014C= (p.Ala1005=) c.2852C= (p.Ala951=) c.2960C= (p.Ala987=) c.2942C= (p.Ala981=) c.2666C= (p.Ala889=) n.3241C= c.2834C= (p.Ala945=) c.2648C= (p.Ala883=) n.3244C= c.2939C= (p.Ala980=) c.3005C= (p.Ala1002=) c.2957C= (p.Ala986=) c.2822C= (p.Ala941=) c.2896-75C= (n.2896-75C=) | |
16 | g.28836048C>G | CA395409193 | ATXN2L | c.3011C>G (p.Ala1004Gly) c.986C>G (p.Ala329Gly) n.3385C>G c.206C>G (p.Ala69Gly) c.3029C>G (p.Ala1010Gly) c.2075C>G (n.2075C>G) c.280C>G c.989C>G (p.Ala330Gly) c.531C>G c.3032C>G (p.Ala1011Gly) c.3014C>G (p.Ala1005Gly) c.2852C>G (p.Ala951Gly) c.2960C>G (p.Ala987Gly) c.2942C>G (p.Ala981Gly) c.2666C>G (p.Ala889Gly) n.3241C>G c.2834C>G (p.Ala945Gly) c.2648C>G (p.Ala883Gly) n.3244C>G c.2939C>G (p.Ala980Gly) c.3005C>G (p.Ala1002Gly) c.2957C>G (p.Ala986Gly) c.2822C>G (p.Ala941Gly) c.2896-75C>G (n.2896-75C>G) | |
16 | g.28836048C>T | CA7985158 | ATXN2L | c.3011C>T (p.Ala1004Val) c.986C>T (p.Ala329Val) n.3385C>T c.206C>T (p.Ala69Val) c.3029C>T (p.Ala1010Val) c.2075C>T (n.2075C>T) c.280C>T c.989C>T (p.Ala330Val) c.531C>T c.3032C>T (p.Ala1011Val) c.3014C>T (p.Ala1005Val) c.2852C>T (p.Ala951Val) c.2960C>T (p.Ala987Val) c.2942C>T (p.Ala981Val) c.2666C>T (p.Ala889Val) n.3241C>T c.2834C>T (p.Ala945Val) c.2648C>T (p.Ala883Val) n.3244C>T c.2939C>T (p.Ala980Val) c.3005C>T (p.Ala1002Val) c.2957C>T (p.Ala986Val) c.2822C>T (p.Ala941Val) c.2896-75C>T (n.2896-75C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28836049G>A | CA7985159 | ATXN2L | c.3012G>A (p.Ala1004=) c.987G>A (p.Ala329=) n.3386G>A c.207G>A (p.Ala69=) c.3030G>A (p.Ala1010=) c.2076G>A (n.2076G>A) c.281G>A c.990G>A (p.Ala330=) c.532G>A c.3033G>A (p.Ala1011=) c.3015G>A (p.Ala1005=) c.2853G>A (p.Ala951=) c.2961G>A (p.Ala987=) c.2943G>A (p.Ala981=) c.2667G>A (p.Ala889=) n.3242G>A c.2835G>A (p.Ala945=) c.2649G>A (p.Ala883=) n.3245G>A c.2940G>A (p.Ala980=) c.3006G>A (p.Ala1002=) c.2958G>A (p.Ala986=) c.2823G>A (p.Ala941=) c.2896-74G>A (n.2896-74G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836049G>C | CA494869190 | ATXN2L | c.3012G>C (p.Ala1004=) c.987G>C (p.Ala329=) n.3386G>C c.207G>C (p.Ala69=) c.3030G>C (p.Ala1010=) c.2076G>C (n.2076G>C) c.281G>C c.990G>C (p.Ala330=) c.532G>C c.3033G>C (p.Ala1011=) c.3015G>C (p.Ala1005=) c.2853G>C (p.Ala951=) c.2961G>C (p.Ala987=) c.2943G>C (p.Ala981=) c.2667G>C (p.Ala889=) n.3242G>C c.2835G>C (p.Ala945=) c.2649G>C (p.Ala883=) n.3245G>C c.2940G>C (p.Ala980=) c.3006G>C (p.Ala1002=) c.2958G>C (p.Ala986=) c.2823G>C (p.Ala941=) c.2896-74G>C (n.2896-74G>C) | |
16 | g.28836049G= | CA2215806872 | ATXN2L | c.3012G= (p.Ala1004=) c.987G= (p.Ala329=) n.3386G= c.207G= (p.Ala69=) c.3030G= (p.Ala1010=) c.2076G= (n.2076G=) c.281G= c.990G= (p.Ala330=) c.532G= c.3033G= (p.Ala1011=) c.3015G= (p.Ala1005=) c.2853G= (p.Ala951=) c.2961G= (p.Ala987=) c.2943G= (p.Ala981=) c.2667G= (p.Ala889=) n.3242G= c.2835G= (p.Ala945=) c.2649G= (p.Ala883=) n.3245G= c.2940G= (p.Ala980=) c.3006G= (p.Ala1002=) c.2958G= (p.Ala986=) c.2823G= (p.Ala941=) c.2896-74G= (n.2896-74G=) | |
16 | g.28836049G>T | CA494869193 | ATXN2L | c.3012G>T (p.Ala1004=) c.987G>T (p.Ala329=) n.3386G>T c.207G>T (p.Ala69=) c.3030G>T (p.Ala1010=) c.2076G>T (n.2076G>T) c.281G>T c.990G>T (p.Ala330=) c.532G>T c.3033G>T (p.Ala1011=) c.3015G>T (p.Ala1005=) c.2853G>T (p.Ala951=) c.2961G>T (p.Ala987=) c.2943G>T (p.Ala981=) c.2667G>T (p.Ala889=) n.3242G>T c.2835G>T (p.Ala945=) c.2649G>T (p.Ala883=) n.3245G>T c.2940G>T (p.Ala980=) c.3006G>T (p.Ala1002=) c.2958G>T (p.Ala986=) c.2823G>T (p.Ala941=) c.2896-74G>T (n.2896-74G>T) | dbSNP gnomAD v2 |
16 | g.28836050G>A | CA395409201 | ATXN2L | c.3013G>A (p.Val1005Met) c.988G>A (p.Val330Met) n.3387G>A c.208G>A (p.Val70Met) c.3031G>A (p.Val1011Met) c.2077G>A (n.2077G>A) c.282G>A c.991G>A (p.Val331Met) c.533G>A c.3034G>A (p.Val1012Met) c.3016G>A (p.Val1006Met) c.2854G>A (p.Val952Met) c.2962G>A (p.Val988Met) c.2944G>A (p.Val982Met) c.2668G>A (p.Val890Met) n.3243G>A c.2836G>A (p.Val946Met) c.2650G>A (p.Val884Met) n.3246G>A c.2941G>A (p.Val981Met) c.3007G>A (p.Val1003Met) c.2959G>A (p.Val987Met) c.2824G>A (p.Val942Met) c.2896-73G>A (n.2896-73G>A) | |
16 | g.28836050G>C | CA395409198 | ATXN2L | c.3013G>C (p.Val1005Leu) c.988G>C (p.Val330Leu) n.3387G>C c.208G>C (p.Val70Leu) c.3031G>C (p.Val1011Leu) c.2077G>C (n.2077G>C) c.282G>C c.991G>C (p.Val331Leu) c.533G>C c.3034G>C (p.Val1012Leu) c.3016G>C (p.Val1006Leu) c.2854G>C (p.Val952Leu) c.2962G>C (p.Val988Leu) c.2944G>C (p.Val982Leu) c.2668G>C (p.Val890Leu) n.3243G>C c.2836G>C (p.Val946Leu) c.2650G>C (p.Val884Leu) n.3246G>C c.2941G>C (p.Val981Leu) c.3007G>C (p.Val1003Leu) c.2959G>C (p.Val987Leu) c.2824G>C (p.Val942Leu) c.2896-73G>C (n.2896-73G>C) | |
16 | g.28836050G>T | CA395409197 | ATXN2L | c.3013G>T (p.Val1005Leu) c.988G>T (p.Val330Leu) n.3387G>T c.208G>T (p.Val70Leu) c.3031G>T (p.Val1011Leu) c.2077G>T (n.2077G>T) c.282G>T c.991G>T (p.Val331Leu) c.533G>T c.3034G>T (p.Val1012Leu) c.3016G>T (p.Val1006Leu) c.2854G>T (p.Val952Leu) c.2962G>T (p.Val988Leu) c.2944G>T (p.Val982Leu) c.2668G>T (p.Val890Leu) n.3243G>T c.2836G>T (p.Val946Leu) c.2650G>T (p.Val884Leu) n.3246G>T c.2941G>T (p.Val981Leu) c.3007G>T (p.Val1003Leu) c.2959G>T (p.Val987Leu) c.2824G>T (p.Val942Leu) c.2896-73G>T (n.2896-73G>T) | |
16 | g.28836051T>A | CA395409203 | ATXN2L | c.3014T>A (p.Val1005Glu) c.989T>A (p.Val330Glu) n.3388T>A c.209T>A (p.Val70Glu) c.3032T>A (p.Val1011Glu) c.2078T>A (n.2078T>A) c.283T>A c.992T>A (p.Val331Glu) c.534T>A c.3035T>A (p.Val1012Glu) c.3017T>A (p.Val1006Glu) c.2855T>A (p.Val952Glu) c.2963T>A (p.Val988Glu) c.2945T>A (p.Val982Glu) c.2669T>A (p.Val890Glu) n.3244T>A c.2837T>A (p.Val946Glu) c.2651T>A (p.Val884Glu) n.3247T>A c.2942T>A (p.Val981Glu) c.3008T>A (p.Val1003Glu) c.2960T>A (p.Val987Glu) c.2825T>A (p.Val942Glu) c.2896-72T>A (n.2896-72T>A) | |
16 | g.28836051T>C | CA395409207 | ATXN2L | c.3014T>C (p.Val1005Ala) c.989T>C (p.Val330Ala) n.3388T>C c.209T>C (p.Val70Ala) c.3032T>C (p.Val1011Ala) c.2078T>C (n.2078T>C) c.283T>C c.992T>C (p.Val331Ala) c.534T>C c.3035T>C (p.Val1012Ala) c.3017T>C (p.Val1006Ala) c.2855T>C (p.Val952Ala) c.2963T>C (p.Val988Ala) c.2945T>C (p.Val982Ala) c.2669T>C (p.Val890Ala) n.3244T>C c.2837T>C (p.Val946Ala) c.2651T>C (p.Val884Ala) n.3247T>C c.2942T>C (p.Val981Ala) c.3008T>C (p.Val1003Ala) c.2960T>C (p.Val987Ala) c.2825T>C (p.Val942Ala) c.2896-72T>C (n.2896-72T>C) | |
16 | g.28836051T>G | CA395409205 | ATXN2L | c.3014T>G (p.Val1005Gly) c.989T>G (p.Val330Gly) n.3388T>G c.209T>G (p.Val70Gly) c.3032T>G (p.Val1011Gly) c.2078T>G (n.2078T>G) c.283T>G c.992T>G (p.Val331Gly) c.534T>G c.3035T>G (p.Val1012Gly) c.3017T>G (p.Val1006Gly) c.2855T>G (p.Val952Gly) c.2963T>G (p.Val988Gly) c.2945T>G (p.Val982Gly) c.2669T>G (p.Val890Gly) n.3244T>G c.2837T>G (p.Val946Gly) c.2651T>G (p.Val884Gly) n.3247T>G c.2942T>G (p.Val981Gly) c.3008T>G (p.Val1003Gly) c.2960T>G (p.Val987Gly) c.2825T>G (p.Val942Gly) c.2896-72T>G (n.2896-72T>G) | |
16 | g.28836052G>A | CA494869210 | ATXN2L | c.3015G>A (p.Val1005=) c.990G>A (p.Val330=) n.3389G>A c.210G>A (p.Val70=) c.3033G>A (p.Val1011=) c.2079G>A (n.2079G>A) c.284G>A c.993G>A (p.Val331=) c.535G>A c.3036G>A (p.Val1012=) c.3018G>A (p.Val1006=) c.2856G>A (p.Val952=) c.2964G>A (p.Val988=) c.2946G>A (p.Val982=) c.2670G>A (p.Val890=) n.3245G>A c.2838G>A (p.Val946=) c.2652G>A (p.Val884=) n.3248G>A c.2943G>A (p.Val981=) c.3009G>A (p.Val1003=) c.2961G>A (p.Val987=) c.2826G>A (p.Val942=) c.2896-71G>A (n.2896-71G>A) | |
16 | g.28836052G>C | CA494869214 | ATXN2L | c.3015G>C (p.Val1005=) c.990G>C (p.Val330=) n.3389G>C c.210G>C (p.Val70=) c.3033G>C (p.Val1011=) c.2079G>C (n.2079G>C) c.284G>C c.993G>C (p.Val331=) c.535G>C c.3036G>C (p.Val1012=) c.3018G>C (p.Val1006=) c.2856G>C (p.Val952=) c.2964G>C (p.Val988=) c.2946G>C (p.Val982=) c.2670G>C (p.Val890=) n.3245G>C c.2838G>C (p.Val946=) c.2652G>C (p.Val884=) n.3248G>C c.2943G>C (p.Val981=) c.3009G>C (p.Val1003=) c.2961G>C (p.Val987=) c.2826G>C (p.Val942=) c.2896-71G>C (n.2896-71G>C) | |
16 | g.28836052G>T | CA494869224 | ATXN2L | c.3015G>T (p.Val1005=) c.990G>T (p.Val330=) n.3389G>T c.210G>T (p.Val70=) c.3033G>T (p.Val1011=) c.2079G>T (n.2079G>T) c.284G>T c.993G>T (p.Val331=) c.535G>T c.3036G>T (p.Val1012=) c.3018G>T (p.Val1006=) c.2856G>T (p.Val952=) c.2964G>T (p.Val988=) c.2946G>T (p.Val982=) c.2670G>T (p.Val890=) n.3245G>T c.2838G>T (p.Val946=) c.2652G>T (p.Val884=) n.3248G>T c.2943G>T (p.Val981=) c.3009G>T (p.Val1003=) c.2961G>T (p.Val987=) c.2826G>T (p.Val942=) c.2896-71G>T (n.2896-71G>T) | |
16 | g.28836053C>A | CA395409208 | ATXN2L | c.3016C>A (p.Pro1006Thr) c.991C>A (p.Pro331Thr) n.3390C>A c.211C>A (p.Pro71Thr) c.3034C>A (p.Pro1012Thr) c.2080C>A (n.2080C>A) c.285C>A c.994C>A (p.Pro332Thr) c.536C>A c.3037C>A (p.Pro1013Thr) c.3019C>A (p.Pro1007Thr) c.2857C>A (p.Pro953Thr) c.2965C>A (p.Pro989Thr) c.2947C>A (p.Pro983Thr) c.2671C>A (p.Pro891Thr) n.3246C>A c.2839C>A (p.Pro947Thr) c.2653C>A (p.Pro885Thr) n.3249C>A c.2944C>A (p.Pro982Thr) c.3010C>A (p.Pro1004Thr) c.2962C>A (p.Pro988Thr) c.2827C>A (p.Pro943Thr) c.2896-70C>A (n.2896-70C>A) | |
16 | g.28836053C>G | CA395409209 | ATXN2L | c.3016C>G (p.Pro1006Ala) c.991C>G (p.Pro331Ala) n.3390C>G c.211C>G (p.Pro71Ala) c.3034C>G (p.Pro1012Ala) c.2080C>G (n.2080C>G) c.285C>G c.994C>G (p.Pro332Ala) c.536C>G c.3037C>G (p.Pro1013Ala) c.3019C>G (p.Pro1007Ala) c.2857C>G (p.Pro953Ala) c.2965C>G (p.Pro989Ala) c.2947C>G (p.Pro983Ala) c.2671C>G (p.Pro891Ala) n.3246C>G c.2839C>G (p.Pro947Ala) c.2653C>G (p.Pro885Ala) n.3249C>G c.2944C>G (p.Pro982Ala) c.3010C>G (p.Pro1004Ala) c.2962C>G (p.Pro988Ala) c.2827C>G (p.Pro943Ala) c.2896-70C>G (n.2896-70C>G) | |
16 | g.28836053C>T | CA395409210 | ATXN2L | c.3016C>T (p.Pro1006Ser) c.991C>T (p.Pro331Ser) n.3390C>T c.211C>T (p.Pro71Ser) c.3034C>T (p.Pro1012Ser) c.2080C>T (n.2080C>T) c.285C>T c.994C>T (p.Pro332Ser) c.536C>T c.3037C>T (p.Pro1013Ser) c.3019C>T (p.Pro1007Ser) c.2857C>T (p.Pro953Ser) c.2965C>T (p.Pro989Ser) c.2947C>T (p.Pro983Ser) c.2671C>T (p.Pro891Ser) n.3246C>T c.2839C>T (p.Pro947Ser) c.2653C>T (p.Pro885Ser) n.3249C>T c.2944C>T (p.Pro982Ser) c.3010C>T (p.Pro1004Ser) c.2962C>T (p.Pro988Ser) c.2827C>T (p.Pro943Ser) c.2896-70C>T (n.2896-70C>T) | |
16 | g.28836054C>A | CA395409211 | ATXN2L | c.3017C>A (p.Pro1006His) c.992C>A (p.Pro331His) n.3391C>A c.212C>A (p.Pro71His) c.3035C>A (p.Pro1012His) c.2081C>A (n.2081C>A) c.286C>A c.995C>A (p.Pro332His) c.537C>A c.3038C>A (p.Pro1013His) c.3020C>A (p.Pro1007His) c.2858C>A (p.Pro953His) c.2966C>A (p.Pro989His) c.2948C>A (p.Pro983His) c.2672C>A (p.Pro891His) n.3247C>A c.2840C>A (p.Pro947His) c.2654C>A (p.Pro885His) n.3250C>A c.2945C>A (p.Pro982His) c.3011C>A (p.Pro1004His) c.2963C>A (p.Pro988His) c.2828C>A (p.Pro943His) c.2896-69C>A (n.2896-69C>A) | |
16 | g.28836054C>G | CA395409212 | ATXN2L | c.3017C>G (p.Pro1006Arg) c.992C>G (p.Pro331Arg) n.3391C>G c.212C>G (p.Pro71Arg) c.3035C>G (p.Pro1012Arg) c.2081C>G (n.2081C>G) c.286C>G c.995C>G (p.Pro332Arg) c.537C>G c.3038C>G (p.Pro1013Arg) c.3020C>G (p.Pro1007Arg) c.2858C>G (p.Pro953Arg) c.2966C>G (p.Pro989Arg) c.2948C>G (p.Pro983Arg) c.2672C>G (p.Pro891Arg) n.3247C>G c.2840C>G (p.Pro947Arg) c.2654C>G (p.Pro885Arg) n.3250C>G c.2945C>G (p.Pro982Arg) c.3011C>G (p.Pro1004Arg) c.2963C>G (p.Pro988Arg) c.2828C>G (p.Pro943Arg) c.2896-69C>G (n.2896-69C>G) | |
16 | g.28836054C>T | CA395409213 | ATXN2L | c.3017C>T (p.Pro1006Leu) c.992C>T (p.Pro331Leu) n.3391C>T c.212C>T (p.Pro71Leu) c.3035C>T (p.Pro1012Leu) c.2081C>T (n.2081C>T) c.286C>T c.995C>T (p.Pro332Leu) c.537C>T c.3038C>T (p.Pro1013Leu) c.3020C>T (p.Pro1007Leu) c.2858C>T (p.Pro953Leu) c.2966C>T (p.Pro989Leu) c.2948C>T (p.Pro983Leu) c.2672C>T (p.Pro891Leu) n.3247C>T c.2840C>T (p.Pro947Leu) c.2654C>T (p.Pro885Leu) n.3250C>T c.2945C>T (p.Pro982Leu) c.3011C>T (p.Pro1004Leu) c.2963C>T (p.Pro988Leu) c.2828C>T (p.Pro943Leu) c.2896-69C>T (n.2896-69C>T) | |
16 | g.28836055C>A | CA494869237 | ATXN2L | c.3018C>A (p.Pro1006=) c.993C>A (p.Pro331=) n.3392C>A c.213C>A (p.Pro71=) c.3036C>A (p.Pro1012=) c.2082C>A (n.2082C>A) c.287C>A c.996C>A (p.Pro332=) c.538C>A c.3039C>A (p.Pro1013=) c.3021C>A (p.Pro1007=) c.2859C>A (p.Pro953=) c.2967C>A (p.Pro989=) c.2949C>A (p.Pro983=) c.2673C>A (p.Pro891=) n.3248C>A c.2841C>A (p.Pro947=) c.2655C>A (p.Pro885=) n.3251C>A c.2946C>A (p.Pro982=) c.3012C>A (p.Pro1004=) c.2964C>A (p.Pro988=) c.2829C>A (p.Pro943=) c.2896-68C>A (n.2896-68C>A) | |
16 | g.28836055C= | CA2215806875 | ATXN2L | c.3018C= (p.Pro1006=) c.993C= (p.Pro331=) n.3392C= c.213C= (p.Pro71=) c.3036C= (p.Pro1012=) c.2082C= (n.2082C=) c.287C= c.996C= (p.Pro332=) c.538C= c.3039C= (p.Pro1013=) c.3021C= (p.Pro1007=) c.2859C= (p.Pro953=) c.2967C= (p.Pro989=) c.2949C= (p.Pro983=) c.2673C= (p.Pro891=) n.3248C= c.2841C= (p.Pro947=) c.2655C= (p.Pro885=) n.3251C= c.2946C= (p.Pro982=) c.3012C= (p.Pro1004=) c.2964C= (p.Pro988=) c.2829C= (p.Pro943=) c.2896-68C= (n.2896-68C=) | |
16 | g.28836055C>G | CA494869235 | ATXN2L | c.3018C>G (p.Pro1006=) c.993C>G (p.Pro331=) n.3392C>G c.213C>G (p.Pro71=) c.3036C>G (p.Pro1012=) c.2082C>G (n.2082C>G) c.287C>G c.996C>G (p.Pro332=) c.538C>G c.3039C>G (p.Pro1013=) c.3021C>G (p.Pro1007=) c.2859C>G (p.Pro953=) c.2967C>G (p.Pro989=) c.2949C>G (p.Pro983=) c.2673C>G (p.Pro891=) n.3248C>G c.2841C>G (p.Pro947=) c.2655C>G (p.Pro885=) n.3251C>G c.2946C>G (p.Pro982=) c.3012C>G (p.Pro1004=) c.2964C>G (p.Pro988=) c.2829C>G (p.Pro943=) c.2896-68C>G (n.2896-68C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28836055C>T | CA494869236 | ATXN2L | c.3018C>T (p.Pro1006=) c.993C>T (p.Pro331=) n.3392C>T c.213C>T (p.Pro71=) c.3036C>T (p.Pro1012=) c.2082C>T (n.2082C>T) c.287C>T c.996C>T (p.Pro332=) c.538C>T c.3039C>T (p.Pro1013=) c.3021C>T (p.Pro1007=) c.2859C>T (p.Pro953=) c.2967C>T (p.Pro989=) c.2949C>T (p.Pro983=) c.2673C>T (p.Pro891=) n.3248C>T c.2841C>T (p.Pro947=) c.2655C>T (p.Pro885=) n.3251C>T c.2946C>T (p.Pro982=) c.3012C>T (p.Pro1004=) c.2964C>T (p.Pro988=) c.2829C>T (p.Pro943=) c.2896-68C>T (n.2896-68C>T) | |
16 | g.28836056C>A | CA395409214 | ATXN2L | c.3019C>A (p.Gln1007Lys) c.994C>A (p.Gln332Lys) n.3393C>A c.214C>A (p.Gln72Lys) c.3037C>A (p.Gln1013Lys) c.2083C>A (n.2083C>A) c.288C>A c.997C>A (p.Gln333Lys) c.539C>A c.3040C>A (p.Gln1014Lys) c.3022C>A (p.Gln1008Lys) c.2860C>A (p.Gln954Lys) c.2968C>A (p.Gln990Lys) c.2950C>A (p.Gln984Lys) c.2674C>A (p.Gln892Lys) n.3249C>A c.2842C>A (p.Gln948Lys) c.2656C>A (p.Gln886Lys) n.3252C>A c.2947C>A (p.Gln983Lys) c.3013C>A (p.Gln1005Lys) c.2965C>A (p.Gln989Lys) c.2830C>A (p.Gln944Lys) c.2896-67C>A (n.2896-67C>A) | |
16 | g.28836056C>G | CA395409215 | ATXN2L | c.3019C>G (p.Gln1007Glu) c.994C>G (p.Gln332Glu) n.3393C>G c.214C>G (p.Gln72Glu) c.3037C>G (p.Gln1013Glu) c.2083C>G (n.2083C>G) c.288C>G c.997C>G (p.Gln333Glu) c.539C>G c.3040C>G (p.Gln1014Glu) c.3022C>G (p.Gln1008Glu) c.2860C>G (p.Gln954Glu) c.2968C>G (p.Gln990Glu) c.2950C>G (p.Gln984Glu) c.2674C>G (p.Gln892Glu) n.3249C>G c.2842C>G (p.Gln948Glu) c.2656C>G (p.Gln886Glu) n.3252C>G c.2947C>G (p.Gln983Glu) c.3013C>G (p.Gln1005Glu) c.2965C>G (p.Gln989Glu) c.2830C>G (p.Gln944Glu) c.2896-67C>G (n.2896-67C>G) | |
16 | g.28836056C>T | CA395409216 | ATXN2L | c.3019C>T (p.Gln1007Ter) c.994C>T (p.Gln332Ter) n.3393C>T c.214C>T (p.Gln72Ter) c.3037C>T (p.Gln1013Ter) c.2083C>T (n.2083C>T) c.288C>T c.997C>T (p.Gln333Ter) c.539C>T c.3040C>T (p.Gln1014Ter) c.3022C>T (p.Gln1008Ter) c.2860C>T (p.Gln954Ter) c.2968C>T (p.Gln990Ter) c.2950C>T (p.Gln984Ter) c.2674C>T (p.Gln892Ter) n.3249C>T c.2842C>T (p.Gln948Ter) c.2656C>T (p.Gln886Ter) n.3252C>T c.2947C>T (p.Gln983Ter) c.3013C>T (p.Gln1005Ter) c.2965C>T (p.Gln989Ter) c.2830C>T (p.Gln944Ter) c.2896-67C>T (n.2896-67C>T) | |
16 | g.28836057A>C | CA395409217 | ATXN2L | c.3020A>C (p.Gln1007Pro) c.995A>C (p.Gln332Pro) n.3394A>C c.215A>C (p.Gln72Pro) c.3038A>C (p.Gln1013Pro) c.2084A>C (n.2084A>C) c.289A>C c.998A>C (p.Gln333Pro) c.540A>C c.3041A>C (p.Gln1014Pro) c.3023A>C (p.Gln1008Pro) c.2861A>C (p.Gln954Pro) c.2969A>C (p.Gln990Pro) c.2951A>C (p.Gln984Pro) c.2675A>C (p.Gln892Pro) n.3250A>C c.2843A>C (p.Gln948Pro) c.2657A>C (p.Gln886Pro) n.3253A>C c.2948A>C (p.Gln983Pro) c.3014A>C (p.Gln1005Pro) c.2966A>C (p.Gln989Pro) c.2831A>C (p.Gln944Pro) c.2896-66A>C (n.2896-66A>C) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28836057A>G | CA395409218 | ATXN2L | c.3020A>G (p.Gln1007Arg) c.995A>G (p.Gln332Arg) n.3394A>G c.215A>G (p.Gln72Arg) c.3038A>G (p.Gln1013Arg) c.2084A>G (n.2084A>G) c.289A>G c.998A>G (p.Gln333Arg) c.540A>G c.3041A>G (p.Gln1014Arg) c.3023A>G (p.Gln1008Arg) c.2861A>G (p.Gln954Arg) c.2969A>G (p.Gln990Arg) c.2951A>G (p.Gln984Arg) c.2675A>G (p.Gln892Arg) n.3250A>G c.2843A>G (p.Gln948Arg) c.2657A>G (p.Gln886Arg) n.3253A>G c.2948A>G (p.Gln983Arg) c.3014A>G (p.Gln1005Arg) c.2966A>G (p.Gln989Arg) c.2831A>G (p.Gln944Arg) c.2896-66A>G (n.2896-66A>G) | |
16 | g.28836057A>T | CA395409219 | ATXN2L | c.3020A>T (p.Gln1007Leu) c.995A>T (p.Gln332Leu) n.3394A>T c.215A>T (p.Gln72Leu) c.3038A>T (p.Gln1013Leu) c.2084A>T (n.2084A>T) c.289A>T c.998A>T (p.Gln333Leu) c.540A>T c.3041A>T (p.Gln1014Leu) c.3023A>T (p.Gln1008Leu) c.2861A>T (p.Gln954Leu) c.2969A>T (p.Gln990Leu) c.2951A>T (p.Gln984Leu) c.2675A>T (p.Gln892Leu) n.3250A>T c.2843A>T (p.Gln948Leu) c.2657A>T (p.Gln886Leu) n.3253A>T c.2948A>T (p.Gln983Leu) c.3014A>T (p.Gln1005Leu) c.2966A>T (p.Gln989Leu) c.2831A>T (p.Gln944Leu) c.2896-66A>T (n.2896-66A>T) | |
16 | g.28836058G>A | CA494869254 | ATXN2L | c.3021G>A (p.Gln1007=) c.996G>A (p.Gln332=) n.3395G>A c.216G>A (p.Gln72=) c.3039G>A (p.Gln1013=) c.2085G>A (n.2085G>A) c.290G>A c.999G>A (p.Gln333=) c.541G>A c.3042G>A (p.Gln1014=) c.3024G>A (p.Gln1008=) c.2862G>A (p.Gln954=) c.2970G>A (p.Gln990=) c.2952G>A (p.Gln984=) c.2676G>A (p.Gln892=) n.3251G>A c.2844G>A (p.Gln948=) c.2658G>A (p.Gln886=) n.3254G>A c.2949G>A (p.Gln983=) c.3015G>A (p.Gln1005=) c.2967G>A (p.Gln989=) c.2832G>A (p.Gln944=) c.2896-65G>A (n.2896-65G>A) | |
16 | g.28836058G>C | CA395409220 | ATXN2L | c.3021G>C (p.Gln1007His) c.996G>C (p.Gln332His) n.3395G>C c.216G>C (p.Gln72His) c.3039G>C (p.Gln1013His) c.2085G>C (n.2085G>C) c.290G>C c.999G>C (p.Gln333His) c.541G>C c.3042G>C (p.Gln1014His) c.3024G>C (p.Gln1008His) c.2862G>C (p.Gln954His) c.2970G>C (p.Gln990His) c.2952G>C (p.Gln984His) c.2676G>C (p.Gln892His) n.3251G>C c.2844G>C (p.Gln948His) c.2658G>C (p.Gln886His) n.3254G>C c.2949G>C (p.Gln983His) c.3015G>C (p.Gln1005His) c.2967G>C (p.Gln989His) c.2832G>C (p.Gln944His) c.2896-65G>C (n.2896-65G>C) | |
16 | g.28836058G>T | CA395409221 | ATXN2L | c.3021G>T (p.Gln1007His) c.996G>T (p.Gln332His) n.3395G>T c.216G>T (p.Gln72His) c.3039G>T (p.Gln1013His) c.2085G>T (n.2085G>T) c.290G>T c.999G>T (p.Gln333His) c.541G>T c.3042G>T (p.Gln1014His) c.3024G>T (p.Gln1008His) c.2862G>T (p.Gln954His) c.2970G>T (p.Gln990His) c.2952G>T (p.Gln984His) c.2676G>T (p.Gln892His) n.3251G>T c.2844G>T (p.Gln948His) c.2658G>T (p.Gln886His) n.3254G>T c.2949G>T (p.Gln983His) c.3015G>T (p.Gln1005His) c.2967G>T (p.Gln989His) c.2832G>T (p.Gln944His) c.2896-65G>T (n.2896-65G>T) | |
16 | g.28836059A>C | CA395409222 | ATXN2L | c.3022A>C (p.Ser1008Arg) c.997A>C (p.Ser333Arg) n.3396A>C c.217A>C (p.Ser73Arg) c.3040A>C (p.Ser1014Arg) c.2086A>C (n.2086A>C) c.291A>C c.1000A>C (p.Ser334Arg) c.542A>C c.3043A>C (p.Ser1015Arg) c.3025A>C (p.Ser1009Arg) c.2863A>C (p.Ser955Arg) c.2971A>C (p.Ser991Arg) c.2953A>C (p.Ser985Arg) c.2677A>C (p.Ser893Arg) n.3252A>C c.2845A>C (p.Ser949Arg) c.2659A>C (p.Ser887Arg) n.3255A>C c.2950A>C (p.Ser984Arg) c.3016A>C (p.Ser1006Arg) c.2968A>C (p.Ser990Arg) c.2833A>C (p.Ser945Arg) c.2896-64A>C (n.2896-64A>C) | |
16 | g.28836059A>G | CA395409223 | ATXN2L | c.3022A>G (p.Ser1008Gly) c.997A>G (p.Ser333Gly) n.3396A>G c.217A>G (p.Ser73Gly) c.3040A>G (p.Ser1014Gly) c.2086A>G (n.2086A>G) c.291A>G c.1000A>G (p.Ser334Gly) c.542A>G c.3043A>G (p.Ser1015Gly) c.3025A>G (p.Ser1009Gly) c.2863A>G (p.Ser955Gly) c.2971A>G (p.Ser991Gly) c.2953A>G (p.Ser985Gly) c.2677A>G (p.Ser893Gly) n.3252A>G c.2845A>G (p.Ser949Gly) c.2659A>G (p.Ser887Gly) n.3255A>G c.2950A>G (p.Ser984Gly) c.3016A>G (p.Ser1006Gly) c.2968A>G (p.Ser990Gly) c.2833A>G (p.Ser945Gly) c.2896-64A>G (n.2896-64A>G) | |
16 | g.28836059A>T | CA395409224 | ATXN2L | c.3022A>T (p.Ser1008Cys) c.997A>T (p.Ser333Cys) n.3396A>T c.217A>T (p.Ser73Cys) c.3040A>T (p.Ser1014Cys) c.2086A>T (n.2086A>T) c.291A>T c.1000A>T (p.Ser334Cys) c.542A>T c.3043A>T (p.Ser1015Cys) c.3025A>T (p.Ser1009Cys) c.2863A>T (p.Ser955Cys) c.2971A>T (p.Ser991Cys) c.2953A>T (p.Ser985Cys) c.2677A>T (p.Ser893Cys) n.3252A>T c.2845A>T (p.Ser949Cys) c.2659A>T (p.Ser887Cys) n.3255A>T c.2950A>T (p.Ser984Cys) c.3016A>T (p.Ser1006Cys) c.2968A>T (p.Ser990Cys) c.2833A>T (p.Ser945Cys) c.2896-64A>T (n.2896-64A>T) | |
16 | g.28836060G>A | CA395409225 | ATXN2L | c.3023G>A (p.Ser1008Asn) c.998G>A (p.Ser333Asn) n.3397G>A c.218G>A (p.Ser73Asn) c.3041G>A (p.Ser1014Asn) c.2087G>A (n.2087G>A) c.292G>A c.1001G>A (p.Ser334Asn) c.543G>A c.3044G>A (p.Ser1015Asn) c.3026G>A (p.Ser1009Asn) c.2864G>A (p.Ser955Asn) c.2972G>A (p.Ser991Asn) c.2954G>A (p.Ser985Asn) c.2678G>A (p.Ser893Asn) n.3253G>A c.2846G>A (p.Ser949Asn) c.2660G>A (p.Ser887Asn) n.3256G>A c.2951G>A (p.Ser984Asn) c.3017G>A (p.Ser1006Asn) c.2969G>A (p.Ser990Asn) c.2834G>A (p.Ser945Asn) c.2896-63G>A (n.2896-63G>A) | |
16 | g.28836060G>C | CA395409226 | ATXN2L | c.3023G>C (p.Ser1008Thr) c.998G>C (p.Ser333Thr) n.3397G>C c.218G>C (p.Ser73Thr) c.3041G>C (p.Ser1014Thr) c.2087G>C (n.2087G>C) c.292G>C c.1001G>C (p.Ser334Thr) c.543G>C c.3044G>C (p.Ser1015Thr) c.3026G>C (p.Ser1009Thr) c.2864G>C (p.Ser955Thr) c.2972G>C (p.Ser991Thr) c.2954G>C (p.Ser985Thr) c.2678G>C (p.Ser893Thr) n.3253G>C c.2846G>C (p.Ser949Thr) c.2660G>C (p.Ser887Thr) n.3256G>C c.2951G>C (p.Ser984Thr) c.3017G>C (p.Ser1006Thr) c.2969G>C (p.Ser990Thr) c.2834G>C (p.Ser945Thr) c.2896-63G>C (n.2896-63G>C) | |
16 | g.28836060G>T | CA395409227 | ATXN2L | c.3023G>T (p.Ser1008Ile) c.998G>T (p.Ser333Ile) n.3397G>T c.218G>T (p.Ser73Ile) c.3041G>T (p.Ser1014Ile) c.2087G>T (n.2087G>T) c.292G>T c.1001G>T (p.Ser334Ile) c.543G>T c.3044G>T (p.Ser1015Ile) c.3026G>T (p.Ser1009Ile) c.2864G>T (p.Ser955Ile) c.2972G>T (p.Ser991Ile) c.2954G>T (p.Ser985Ile) c.2678G>T (p.Ser893Ile) n.3253G>T c.2846G>T (p.Ser949Ile) c.2660G>T (p.Ser887Ile) n.3256G>T c.2951G>T (p.Ser984Ile) c.3017G>T (p.Ser1006Ile) c.2969G>T (p.Ser990Ile) c.2834G>T (p.Ser945Ile) c.2896-63G>T (n.2896-63G>T) | |
16 | g.28836061T>A | CA395409228 | ATXN2L | c.3024T>A (p.Ser1008Arg) c.999T>A (p.Ser333Arg) n.3398T>A c.219T>A (p.Ser73Arg) c.3042T>A (p.Ser1014Arg) c.2088T>A (n.2088T>A) c.293T>A c.1002T>A (p.Ser334Arg) c.544T>A c.3045T>A (p.Ser1015Arg) c.3027T>A (p.Ser1009Arg) c.2865T>A (p.Ser955Arg) c.2973T>A (p.Ser991Arg) c.2955T>A (p.Ser985Arg) c.2679T>A (p.Ser893Arg) n.3254T>A c.2847T>A (p.Ser949Arg) c.2661T>A (p.Ser887Arg) n.3257T>A c.2952T>A (p.Ser984Arg) c.3018T>A (p.Ser1006Arg) c.2970T>A (p.Ser990Arg) c.2835T>A (p.Ser945Arg) c.2896-62T>A (n.2896-62T>A) | |
16 | g.28836061T>C | CA494869268 | ATXN2L | c.3024T>C (p.Ser1008=) c.999T>C (p.Ser333=) n.3398T>C c.219T>C (p.Ser73=) c.3042T>C (p.Ser1014=) c.2088T>C (n.2088T>C) c.293T>C c.1002T>C (p.Ser334=) c.544T>C c.3045T>C (p.Ser1015=) c.3027T>C (p.Ser1009=) c.2865T>C (p.Ser955=) c.2973T>C (p.Ser991=) c.2955T>C (p.Ser985=) c.2679T>C (p.Ser893=) n.3254T>C c.2847T>C (p.Ser949=) c.2661T>C (p.Ser887=) n.3257T>C c.2952T>C (p.Ser984=) c.3018T>C (p.Ser1006=) c.2970T>C (p.Ser990=) c.2835T>C (p.Ser945=) c.2896-62T>C (n.2896-62T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28836061T>G | CA395409229 | ATXN2L | c.3024T>G (p.Ser1008Arg) c.999T>G (p.Ser333Arg) n.3398T>G c.219T>G (p.Ser73Arg) c.3042T>G (p.Ser1014Arg) c.2088T>G (n.2088T>G) c.293T>G c.1002T>G (p.Ser334Arg) c.544T>G c.3045T>G (p.Ser1015Arg) c.3027T>G (p.Ser1009Arg) c.2865T>G (p.Ser955Arg) c.2973T>G (p.Ser991Arg) c.2955T>G (p.Ser985Arg) c.2679T>G (p.Ser893Arg) n.3254T>G c.2847T>G (p.Ser949Arg) c.2661T>G (p.Ser887Arg) n.3257T>G c.2952T>G (p.Ser984Arg) c.3018T>G (p.Ser1006Arg) c.2970T>G (p.Ser990Arg) c.2835T>G (p.Ser945Arg) c.2896-62T>G (n.2896-62T>G) | gnomAD v4 |
16 | g.28836061T= | CA2215806879 | ATXN2L | c.3024T= (p.Ser1008=) c.999T= (p.Ser333=) n.3398T= c.219T= (p.Ser73=) c.3042T= (p.Ser1014=) c.2088T= (n.2088T=) c.293T= c.1002T= (p.Ser334=) c.544T= c.3045T= (p.Ser1015=) c.3027T= (p.Ser1009=) c.2865T= (p.Ser955=) c.2973T= (p.Ser991=) c.2955T= (p.Ser985=) c.2679T= (p.Ser893=) n.3254T= c.2847T= (p.Ser949=) c.2661T= (p.Ser887=) n.3257T= c.2952T= (p.Ser984=) c.3018T= (p.Ser1006=) c.2970T= (p.Ser990=) c.2835T= (p.Ser945=) c.2896-62T= (n.2896-62T=) | |
16 | g.28836062G>A | CA395409230 | ATXN2L | c.3025G>A (p.Gly1009Arg) c.1000G>A (p.Gly334Arg) n.3399G>A c.220G>A (p.Gly74Arg) c.3043G>A (p.Gly1015Arg) c.2089G>A (n.2089G>A) c.294G>A c.1003G>A (p.Gly335Arg) c.545G>A c.3046G>A (p.Gly1016Arg) c.3028G>A (p.Gly1010Arg) c.2866G>A (p.Gly956Arg) c.2974G>A (p.Gly992Arg) c.2956G>A (p.Gly986Arg) c.2680G>A (p.Gly894Arg) n.3255G>A c.2848G>A (p.Gly950Arg) c.2662G>A (p.Gly888Arg) n.3258G>A c.2953G>A (p.Gly985Arg) c.3019G>A (p.Gly1007Arg) c.2971G>A (p.Gly991Arg) c.2836G>A (p.Gly946Arg) c.2896-61G>A (n.2896-61G>A) | |
16 | g.28836062G>C | CA395409231 | ATXN2L | c.3025G>C (p.Gly1009Arg) c.1000G>C (p.Gly334Arg) n.3399G>C c.220G>C (p.Gly74Arg) c.3043G>C (p.Gly1015Arg) c.2089G>C (n.2089G>C) c.294G>C c.1003G>C (p.Gly335Arg) c.545G>C c.3046G>C (p.Gly1016Arg) c.3028G>C (p.Gly1010Arg) c.2866G>C (p.Gly956Arg) c.2974G>C (p.Gly992Arg) c.2956G>C (p.Gly986Arg) c.2680G>C (p.Gly894Arg) n.3255G>C c.2848G>C (p.Gly950Arg) c.2662G>C (p.Gly888Arg) n.3258G>C c.2953G>C (p.Gly985Arg) c.3019G>C (p.Gly1007Arg) c.2971G>C (p.Gly991Arg) c.2836G>C (p.Gly946Arg) c.2896-61G>C (n.2896-61G>C) | |
16 | g.28836062G>T | CA395409232 | ATXN2L | c.3025G>T (p.Gly1009Trp) c.1000G>T (p.Gly334Trp) n.3399G>T c.220G>T (p.Gly74Trp) c.3043G>T (p.Gly1015Trp) c.2089G>T (n.2089G>T) c.294G>T c.1003G>T (p.Gly335Trp) c.545G>T c.3046G>T (p.Gly1016Trp) c.3028G>T (p.Gly1010Trp) c.2866G>T (p.Gly956Trp) c.2974G>T (p.Gly992Trp) c.2956G>T (p.Gly986Trp) c.2680G>T (p.Gly894Trp) n.3255G>T c.2848G>T (p.Gly950Trp) c.2662G>T (p.Gly888Trp) n.3258G>T c.2953G>T (p.Gly985Trp) c.3019G>T (p.Gly1007Trp) c.2971G>T (p.Gly991Trp) c.2836G>T (p.Gly946Trp) c.2896-61G>T (n.2896-61G>T) | |
16 | g.28836063G>A | CA395409234 | ATXN2L | c.3026G>A (p.Gly1009Glu) c.1001G>A (p.Gly334Glu) n.3400G>A c.221G>A (p.Gly74Glu) c.3044G>A (p.Gly1015Glu) c.2090G>A (n.2090G>A) c.295G>A c.1004G>A (p.Gly335Glu) c.546G>A c.3047G>A (p.Gly1016Glu) c.3029G>A (p.Gly1010Glu) c.2867G>A (p.Gly956Glu) c.2975G>A (p.Gly992Glu) c.2957G>A (p.Gly986Glu) c.2681G>A (p.Gly894Glu) n.3256G>A c.2849G>A (p.Gly950Glu) c.2663G>A (p.Gly888Glu) n.3259G>A c.2954G>A (p.Gly985Glu) c.3020G>A (p.Gly1007Glu) c.2972G>A (p.Gly991Glu) c.2837G>A (p.Gly946Glu) c.2896-60G>A (n.2896-60G>A) | |
16 | g.28836063G>C | CA395409235 | ATXN2L | c.3026G>C (p.Gly1009Ala) c.1001G>C (p.Gly334Ala) n.3400G>C c.221G>C (p.Gly74Ala) c.3044G>C (p.Gly1015Ala) c.2090G>C (n.2090G>C) c.295G>C c.1004G>C (p.Gly335Ala) c.546G>C c.3047G>C (p.Gly1016Ala) c.3029G>C (p.Gly1010Ala) c.2867G>C (p.Gly956Ala) c.2975G>C (p.Gly992Ala) c.2957G>C (p.Gly986Ala) c.2681G>C (p.Gly894Ala) n.3256G>C c.2849G>C (p.Gly950Ala) c.2663G>C (p.Gly888Ala) n.3259G>C c.2954G>C (p.Gly985Ala) c.3020G>C (p.Gly1007Ala) c.2972G>C (p.Gly991Ala) c.2837G>C (p.Gly946Ala) c.2896-60G>C (n.2896-60G>C) | gnomAD v4 |
16 | g.28836063G>T | CA395409233 | ATXN2L | c.3026G>T (p.Gly1009Val) c.1001G>T (p.Gly334Val) n.3400G>T c.221G>T (p.Gly74Val) c.3044G>T (p.Gly1015Val) c.2090G>T (n.2090G>T) c.295G>T c.1004G>T (p.Gly335Val) c.546G>T c.3047G>T (p.Gly1016Val) c.3029G>T (p.Gly1010Val) c.2867G>T (p.Gly956Val) c.2975G>T (p.Gly992Val) c.2957G>T (p.Gly986Val) c.2681G>T (p.Gly894Val) n.3256G>T c.2849G>T (p.Gly950Val) c.2663G>T (p.Gly888Val) n.3259G>T c.2954G>T (p.Gly985Val) c.3020G>T (p.Gly1007Val) c.2972G>T (p.Gly991Val) c.2837G>T (p.Gly946Val) c.2896-60G>T (n.2896-60G>T) | |
16 | g.28836064G>A | CA7985160 | ATXN2L | c.3027G>A (p.Gly1009=) c.1002G>A (p.Gly334=) n.3401G>A c.222G>A (p.Gly74=) c.3045G>A (p.Gly1015=) c.2091G>A (n.2091G>A) c.296G>A c.1005G>A (p.Gly335=) c.547G>A c.3048G>A (p.Gly1016=) c.3030G>A (p.Gly1010=) c.2868G>A (p.Gly956=) c.2976G>A (p.Gly992=) c.2958G>A (p.Gly986=) c.2682G>A (p.Gly894=) n.3257G>A c.2850G>A (p.Gly950=) c.2664G>A (p.Gly888=) n.3260G>A c.2955G>A (p.Gly985=) c.3021G>A (p.Gly1007=) c.2973G>A (p.Gly991=) c.2838G>A (p.Gly946=) c.2896-59G>A (n.2896-59G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836064G>C | CA7985161 | ATXN2L | c.3027G>C (p.Gly1009=) c.1002G>C (p.Gly334=) n.3401G>C c.222G>C (p.Gly74=) c.3045G>C (p.Gly1015=) c.2091G>C (n.2091G>C) c.296G>C c.1005G>C (p.Gly335=) c.547G>C c.3048G>C (p.Gly1016=) c.3030G>C (p.Gly1010=) c.2868G>C (p.Gly956=) c.2976G>C (p.Gly992=) c.2958G>C (p.Gly986=) c.2682G>C (p.Gly894=) n.3257G>C c.2850G>C (p.Gly950=) c.2664G>C (p.Gly888=) n.3260G>C c.2955G>C (p.Gly985=) c.3021G>C (p.Gly1007=) c.2973G>C (p.Gly991=) c.2838G>C (p.Gly946=) c.2896-59G>C (n.2896-59G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836064G= | CA2215806884 | ATXN2L | c.3027G= (p.Gly1009=) c.1002G= (p.Gly334=) n.3401G= c.222G= (p.Gly74=) c.3045G= (p.Gly1015=) c.2091G= (n.2091G=) c.296G= c.1005G= (p.Gly335=) c.547G= c.3048G= (p.Gly1016=) c.3030G= (p.Gly1010=) c.2868G= (p.Gly956=) c.2976G= (p.Gly992=) c.2958G= (p.Gly986=) c.2682G= (p.Gly894=) n.3257G= c.2850G= (p.Gly950=) c.2664G= (p.Gly888=) n.3260G= c.2955G= (p.Gly985=) c.3021G= (p.Gly1007=) c.2973G= (p.Gly991=) c.2838G= (p.Gly946=) c.2896-59G= (n.2896-59G=) | |
16 | g.28836064G>T | CA494869330 | ATXN2L | c.3027G>T (p.Gly1009=) c.1002G>T (p.Gly334=) n.3401G>T c.222G>T (p.Gly74=) c.3045G>T (p.Gly1015=) c.2091G>T (n.2091G>T) c.296G>T c.1005G>T (p.Gly335=) c.547G>T c.3048G>T (p.Gly1016=) c.3030G>T (p.Gly1010=) c.2868G>T (p.Gly956=) c.2976G>T (p.Gly992=) c.2958G>T (p.Gly986=) c.2682G>T (p.Gly894=) n.3257G>T c.2850G>T (p.Gly950=) c.2664G>T (p.Gly888=) n.3260G>T c.2955G>T (p.Gly985=) c.3021G>T (p.Gly1007=) c.2973G>T (p.Gly991=) c.2838G>T (p.Gly946=) c.2896-59G>T (n.2896-59G>T) | |
16 | g.28836065G>A | CA395409236 | ATXN2L | c.3028G>A (p.Val1010Met) c.1003G>A (p.Val335Met) n.3402G>A c.223G>A (p.Val75Met) c.3046G>A (p.Val1016Met) c.2092G>A (n.2092G>A) c.297G>A c.1006G>A (p.Val336Met) c.548G>A c.3049G>A (p.Val1017Met) c.3031G>A (p.Val1011Met) c.2869G>A (p.Val957Met) c.2977G>A (p.Val993Met) c.2959G>A (p.Val987Met) c.2683G>A (p.Val895Met) n.3258G>A c.2851G>A (p.Val951Met) c.2665G>A (p.Val889Met) n.3261G>A c.2956G>A (p.Val986Met) c.3022G>A (p.Val1008Met) c.2974G>A (p.Val992Met) c.2839G>A (p.Val947Met) c.2896-58G>A (n.2896-58G>A) | gnomAD v4 |
16 | g.28836065G>C | CA395409237 | ATXN2L | c.3028G>C (p.Val1010Leu) c.1003G>C (p.Val335Leu) n.3402G>C c.223G>C (p.Val75Leu) c.3046G>C (p.Val1016Leu) c.2092G>C (n.2092G>C) c.297G>C c.1006G>C (p.Val336Leu) c.548G>C c.3049G>C (p.Val1017Leu) c.3031G>C (p.Val1011Leu) c.2869G>C (p.Val957Leu) c.2977G>C (p.Val993Leu) c.2959G>C (p.Val987Leu) c.2683G>C (p.Val895Leu) n.3258G>C c.2851G>C (p.Val951Leu) c.2665G>C (p.Val889Leu) n.3261G>C c.2956G>C (p.Val986Leu) c.3022G>C (p.Val1008Leu) c.2974G>C (p.Val992Leu) c.2839G>C (p.Val947Leu) c.2896-58G>C (n.2896-58G>C) | |
16 | g.28836065G= | CA2215806887 | ATXN2L | c.3028G= (p.Val1010=) c.1003G= (p.Val335=) n.3402G= c.223G= (p.Val75=) c.3046G= (p.Val1016=) c.2092G= (n.2092G=) c.297G= c.1006G= (p.Val336=) c.548G= c.3049G= (p.Val1017=) c.3031G= (p.Val1011=) c.2869G= (p.Val957=) c.2977G= (p.Val993=) c.2959G= (p.Val987=) c.2683G= (p.Val895=) n.3258G= c.2851G= (p.Val951=) c.2665G= (p.Val889=) n.3261G= c.2956G= (p.Val986=) c.3022G= (p.Val1008=) c.2974G= (p.Val992=) c.2839G= (p.Val947=) c.2896-58G= (n.2896-58G=) | |
16 | g.28836065G>T | CA395409238 | ATXN2L | c.3028G>T (p.Val1010Leu) c.1003G>T (p.Val335Leu) n.3402G>T c.223G>T (p.Val75Leu) c.3046G>T (p.Val1016Leu) c.2092G>T (n.2092G>T) c.297G>T c.1006G>T (p.Val336Leu) c.548G>T c.3049G>T (p.Val1017Leu) c.3031G>T (p.Val1011Leu) c.2869G>T (p.Val957Leu) c.2977G>T (p.Val993Leu) c.2959G>T (p.Val987Leu) c.2683G>T (p.Val895Leu) n.3258G>T c.2851G>T (p.Val951Leu) c.2665G>T (p.Val889Leu) n.3261G>T c.2956G>T (p.Val986Leu) c.3022G>T (p.Val1008Leu) c.2974G>T (p.Val992Leu) c.2839G>T (p.Val947Leu) c.2896-58G>T (n.2896-58G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28836066T>A | CA395409239 | ATXN2L | c.3029T>A (p.Val1010Glu) c.1004T>A (p.Val335Glu) n.3403T>A c.224T>A (p.Val75Glu) c.3047T>A (p.Val1016Glu) c.2093T>A (n.2093T>A) c.298T>A c.1007T>A (p.Val336Glu) c.549T>A c.3050T>A (p.Val1017Glu) c.3032T>A (p.Val1011Glu) c.2870T>A (p.Val957Glu) c.2978T>A (p.Val993Glu) c.2960T>A (p.Val987Glu) c.2684T>A (p.Val895Glu) n.3259T>A c.2852T>A (p.Val951Glu) c.2666T>A (p.Val889Glu) n.3262T>A c.2957T>A (p.Val986Glu) c.3023T>A (p.Val1008Glu) c.2975T>A (p.Val992Glu) c.2840T>A (p.Val947Glu) c.2896-57T>A (n.2896-57T>A) | |
16 | g.28836066T>C | CA395409240 | ATXN2L | c.3029T>C (p.Val1010Ala) c.1004T>C (p.Val335Ala) n.3403T>C c.224T>C (p.Val75Ala) c.3047T>C (p.Val1016Ala) c.2093T>C (n.2093T>C) c.298T>C c.1007T>C (p.Val336Ala) c.549T>C c.3050T>C (p.Val1017Ala) c.3032T>C (p.Val1011Ala) c.2870T>C (p.Val957Ala) c.2978T>C (p.Val993Ala) c.2960T>C (p.Val987Ala) c.2684T>C (p.Val895Ala) n.3259T>C c.2852T>C (p.Val951Ala) c.2666T>C (p.Val889Ala) n.3262T>C c.2957T>C (p.Val986Ala) c.3023T>C (p.Val1008Ala) c.2975T>C (p.Val992Ala) c.2840T>C (p.Val947Ala) c.2896-57T>C (n.2896-57T>C) | |
16 | g.28836066T>G | CA395409241 | ATXN2L | c.3029T>G (p.Val1010Gly) c.1004T>G (p.Val335Gly) n.3403T>G c.224T>G (p.Val75Gly) c.3047T>G (p.Val1016Gly) c.2093T>G (n.2093T>G) c.298T>G c.1007T>G (p.Val336Gly) c.549T>G c.3050T>G (p.Val1017Gly) c.3032T>G (p.Val1011Gly) c.2870T>G (p.Val957Gly) c.2978T>G (p.Val993Gly) c.2960T>G (p.Val987Gly) c.2684T>G (p.Val895Gly) n.3259T>G c.2852T>G (p.Val951Gly) c.2666T>G (p.Val889Gly) n.3262T>G c.2957T>G (p.Val986Gly) c.3023T>G (p.Val1008Gly) c.2975T>G (p.Val992Gly) c.2840T>G (p.Val947Gly) c.2896-57T>G (n.2896-57T>G) | |
16 | g.28836067G>A | CA279230914 | ATXN2L | c.3030G>A (p.Val1010=) c.1005G>A (p.Val335=) n.3404G>A c.225G>A (p.Val75=) c.3048G>A (p.Val1016=) c.2094G>A (n.2094G>A) c.299G>A c.1008G>A (p.Val336=) c.550G>A c.3051G>A (p.Val1017=) c.3033G>A (p.Val1011=) c.2871G>A (p.Val957=) c.2979G>A (p.Val993=) c.2961G>A (p.Val987=) c.2685G>A (p.Val895=) n.3260G>A c.2853G>A (p.Val951=) c.2667G>A (p.Val889=) n.3263G>A c.2958G>A (p.Val986=) c.3024G>A (p.Val1008=) c.2976G>A (p.Val992=) c.2841G>A (p.Val947=) c.2896-56G>A (n.2896-56G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836067G>C | CA494869339 | ATXN2L | c.3030G>C (p.Val1010=) c.1005G>C (p.Val335=) n.3404G>C c.225G>C (p.Val75=) c.3048G>C (p.Val1016=) c.2094G>C (n.2094G>C) c.299G>C c.1008G>C (p.Val336=) c.550G>C c.3051G>C (p.Val1017=) c.3033G>C (p.Val1011=) c.2871G>C (p.Val957=) c.2979G>C (p.Val993=) c.2961G>C (p.Val987=) c.2685G>C (p.Val895=) n.3260G>C c.2853G>C (p.Val951=) c.2667G>C (p.Val889=) n.3263G>C c.2958G>C (p.Val986=) c.3024G>C (p.Val1008=) c.2976G>C (p.Val992=) c.2841G>C (p.Val947=) c.2896-56G>C (n.2896-56G>C) | |
16 | g.28836067G= | CA2215806890 | ATXN2L | c.3030G= (p.Val1010=) c.1005G= (p.Val335=) n.3404G= c.225G= (p.Val75=) c.3048G= (p.Val1016=) c.2094G= (n.2094G=) c.299G= c.1008G= (p.Val336=) c.550G= c.3051G= (p.Val1017=) c.3033G= (p.Val1011=) c.2871G= (p.Val957=) c.2979G= (p.Val993=) c.2961G= (p.Val987=) c.2685G= (p.Val895=) n.3260G= c.2853G= (p.Val951=) c.2667G= (p.Val889=) n.3263G= c.2958G= (p.Val986=) c.3024G= (p.Val1008=) c.2976G= (p.Val992=) c.2841G= (p.Val947=) c.2896-56G= (n.2896-56G=) | |
16 | g.28836067G>T | CA494869341 | ATXN2L | c.3030G>T (p.Val1010=) c.1005G>T (p.Val335=) n.3404G>T c.225G>T (p.Val75=) c.3048G>T (p.Val1016=) c.2094G>T (n.2094G>T) c.299G>T c.1008G>T (p.Val336=) c.550G>T c.3051G>T (p.Val1017=) c.3033G>T (p.Val1011=) c.2871G>T (p.Val957=) c.2979G>T (p.Val993=) c.2961G>T (p.Val987=) c.2685G>T (p.Val895=) n.3260G>T c.2853G>T (p.Val951=) c.2667G>T (p.Val889=) n.3263G>T c.2958G>T (p.Val986=) c.3024G>T (p.Val1008=) c.2976G>T (p.Val992=) c.2841G>T (p.Val947=) c.2896-56G>T (n.2896-56G>T) | gnomAD v4 |
16 | g.28836068C>A | CA7985163 | ATXN2L | c.3031C>A (p.Pro1011Thr) c.1006C>A (p.Pro336Thr) n.3405C>A c.226C>A (p.Pro76Thr) c.3049C>A (p.Pro1017Thr) c.2095C>A (n.2095C>A) c.300C>A c.1009C>A (p.Pro337Thr) c.551C>A c.3052C>A (p.Pro1018Thr) c.3034C>A (p.Pro1012Thr) c.2872C>A (p.Pro958Thr) c.2980C>A (p.Pro994Thr) c.2962C>A (p.Pro988Thr) c.2686C>A (p.Pro896Thr) n.3261C>A c.2854C>A (p.Pro952Thr) c.2668C>A (p.Pro890Thr) n.3264C>A c.2959C>A (p.Pro987Thr) c.3025C>A (p.Pro1009Thr) c.2977C>A (p.Pro993Thr) c.2842C>A (p.Pro948Thr) c.2896-55C>A (n.2896-55C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836068C= | CA2215806894 | ATXN2L | c.3031C= (p.Pro1011=) c.1006C= (p.Pro336=) n.3405C= c.226C= (p.Pro76=) c.3049C= (p.Pro1017=) c.2095C= (n.2095C=) c.300C= c.1009C= (p.Pro337=) c.551C= c.3052C= (p.Pro1018=) c.3034C= (p.Pro1012=) c.2872C= (p.Pro958=) c.2980C= (p.Pro994=) c.2962C= (p.Pro988=) c.2686C= (p.Pro896=) n.3261C= c.2854C= (p.Pro952=) c.2668C= (p.Pro890=) n.3264C= c.2959C= (p.Pro987=) c.3025C= (p.Pro1009=) c.2977C= (p.Pro993=) c.2842C= (p.Pro948=) c.2896-55C= (n.2896-55C=) | |
16 | g.28836068C>G | CA395409242 | ATXN2L | c.3031C>G (p.Pro1011Ala) c.1006C>G (p.Pro336Ala) n.3405C>G c.226C>G (p.Pro76Ala) c.3049C>G (p.Pro1017Ala) c.2095C>G (n.2095C>G) c.300C>G c.1009C>G (p.Pro337Ala) c.551C>G c.3052C>G (p.Pro1018Ala) c.3034C>G (p.Pro1012Ala) c.2872C>G (p.Pro958Ala) c.2980C>G (p.Pro994Ala) c.2962C>G (p.Pro988Ala) c.2686C>G (p.Pro896Ala) n.3261C>G c.2854C>G (p.Pro952Ala) c.2668C>G (p.Pro890Ala) n.3264C>G c.2959C>G (p.Pro987Ala) c.3025C>G (p.Pro1009Ala) c.2977C>G (p.Pro993Ala) c.2842C>G (p.Pro948Ala) c.2896-55C>G (n.2896-55C>G) | |
16 | g.28836068C>T | CA7985162 | ATXN2L | c.3031C>T (p.Pro1011Ser) c.1006C>T (p.Pro336Ser) n.3405C>T c.226C>T (p.Pro76Ser) c.3049C>T (p.Pro1017Ser) c.2095C>T (n.2095C>T) c.300C>T c.1009C>T (p.Pro337Ser) c.551C>T c.3052C>T (p.Pro1018Ser) c.3034C>T (p.Pro1012Ser) c.2872C>T (p.Pro958Ser) c.2980C>T (p.Pro994Ser) c.2962C>T (p.Pro988Ser) c.2686C>T (p.Pro896Ser) n.3261C>T c.2854C>T (p.Pro952Ser) c.2668C>T (p.Pro890Ser) n.3264C>T c.2959C>T (p.Pro987Ser) c.3025C>T (p.Pro1009Ser) c.2977C>T (p.Pro993Ser) c.2842C>T (p.Pro948Ser) c.2896-55C>T (n.2896-55C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836069C>A | CA395409244 | ATXN2L | c.3032C>A (p.Pro1011His) c.1007C>A (p.Pro336His) n.3406C>A c.227C>A (p.Pro76His) c.3050C>A (p.Pro1017His) c.2096C>A (n.2096C>A) c.301C>A c.1010C>A (p.Pro337His) c.552C>A c.3053C>A (p.Pro1018His) c.3035C>A (p.Pro1012His) c.2873C>A (p.Pro958His) c.2981C>A (p.Pro994His) c.2963C>A (p.Pro988His) c.2687C>A (p.Pro896His) n.3262C>A c.2855C>A (p.Pro952His) c.2669C>A (p.Pro890His) n.3265C>A c.2960C>A (p.Pro987His) c.3026C>A (p.Pro1009His) c.2978C>A (p.Pro993His) c.2843C>A (p.Pro948His) c.2896-54C>A (n.2896-54C>A) | |
16 | g.28836069C= | CA2215806896 | ATXN2L | c.3032C= (p.Pro1011=) c.1007C= (p.Pro336=) n.3406C= c.227C= (p.Pro76=) c.3050C= (p.Pro1017=) c.2096C= (n.2096C=) c.301C= c.1010C= (p.Pro337=) c.552C= c.3053C= (p.Pro1018=) c.3035C= (p.Pro1012=) c.2873C= (p.Pro958=) c.2981C= (p.Pro994=) c.2963C= (p.Pro988=) c.2687C= (p.Pro896=) n.3262C= c.2855C= (p.Pro952=) c.2669C= (p.Pro890=) n.3265C= c.2960C= (p.Pro987=) c.3026C= (p.Pro1009=) c.2978C= (p.Pro993=) c.2843C= (p.Pro948=) c.2896-54C= (n.2896-54C=) | |
16 | g.28836069C>G | CA7985164 | ATXN2L | c.3032C>G (p.Pro1011Arg) c.1007C>G (p.Pro336Arg) n.3406C>G c.227C>G (p.Pro76Arg) c.3050C>G (p.Pro1017Arg) c.2096C>G (n.2096C>G) c.301C>G c.1010C>G (p.Pro337Arg) c.552C>G c.3053C>G (p.Pro1018Arg) c.3035C>G (p.Pro1012Arg) c.2873C>G (p.Pro958Arg) c.2981C>G (p.Pro994Arg) c.2963C>G (p.Pro988Arg) c.2687C>G (p.Pro896Arg) n.3262C>G c.2855C>G (p.Pro952Arg) c.2669C>G (p.Pro890Arg) n.3265C>G c.2960C>G (p.Pro987Arg) c.3026C>G (p.Pro1009Arg) c.2978C>G (p.Pro993Arg) c.2843C>G (p.Pro948Arg) c.2896-54C>G (n.2896-54C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836069C>T | CA395409243 | ATXN2L | c.3032C>T (p.Pro1011Leu) c.1007C>T (p.Pro336Leu) n.3406C>T c.227C>T (p.Pro76Leu) c.3050C>T (p.Pro1017Leu) c.2096C>T (n.2096C>T) c.301C>T c.1010C>T (p.Pro337Leu) c.552C>T c.3053C>T (p.Pro1018Leu) c.3035C>T (p.Pro1012Leu) c.2873C>T (p.Pro958Leu) c.2981C>T (p.Pro994Leu) c.2963C>T (p.Pro988Leu) c.2687C>T (p.Pro896Leu) n.3262C>T c.2855C>T (p.Pro952Leu) c.2669C>T (p.Pro890Leu) n.3265C>T c.2960C>T (p.Pro987Leu) c.3026C>T (p.Pro1009Leu) c.2978C>T (p.Pro993Leu) c.2843C>T (p.Pro948Leu) c.2896-54C>T (n.2896-54C>T) | gnomAD v4 |
16 | g.28836070T>A | CA494869354 | ATXN2L | c.3033T>A (p.Pro1011=) c.1008T>A (p.Pro336=) n.3407T>A c.228T>A (p.Pro76=) c.3051T>A (p.Pro1017=) c.2097T>A (n.2097T>A) c.302T>A c.1011T>A (p.Pro337=) c.553T>A c.3054T>A (p.Pro1018=) c.3036T>A (p.Pro1012=) c.2874T>A (p.Pro958=) c.2982T>A (p.Pro994=) c.2964T>A (p.Pro988=) c.2688T>A (p.Pro896=) n.3263T>A c.2856T>A (p.Pro952=) c.2670T>A (p.Pro890=) n.3266T>A c.2961T>A (p.Pro987=) c.3027T>A (p.Pro1009=) c.2979T>A (p.Pro993=) c.2844T>A (p.Pro948=) c.2896-53T>A (n.2896-53T>A) | |
16 | g.28836070T>C | CA494869357 | ATXN2L | c.3033T>C (p.Pro1011=) c.1008T>C (p.Pro336=) n.3407T>C c.228T>C (p.Pro76=) c.3051T>C (p.Pro1017=) c.2097T>C (n.2097T>C) c.302T>C c.1011T>C (p.Pro337=) c.553T>C c.3054T>C (p.Pro1018=) c.3036T>C (p.Pro1012=) c.2874T>C (p.Pro958=) c.2982T>C (p.Pro994=) c.2964T>C (p.Pro988=) c.2688T>C (p.Pro896=) n.3263T>C c.2856T>C (p.Pro952=) c.2670T>C (p.Pro890=) n.3266T>C c.2961T>C (p.Pro987=) c.3027T>C (p.Pro1009=) c.2979T>C (p.Pro993=) c.2844T>C (p.Pro948=) c.2896-53T>C (n.2896-53T>C) | |
16 | g.28836070T>G | CA494869358 | ATXN2L | c.3033T>G (p.Pro1011=) c.1008T>G (p.Pro336=) n.3407T>G c.228T>G (p.Pro76=) c.3051T>G (p.Pro1017=) c.2097T>G (n.2097T>G) c.302T>G c.1011T>G (p.Pro337=) c.553T>G c.3054T>G (p.Pro1018=) c.3036T>G (p.Pro1012=) c.2874T>G (p.Pro958=) c.2982T>G (p.Pro994=) c.2964T>G (p.Pro988=) c.2688T>G (p.Pro896=) n.3263T>G c.2856T>G (p.Pro952=) c.2670T>G (p.Pro890=) n.3266T>G c.2961T>G (p.Pro987=) c.3027T>G (p.Pro1009=) c.2979T>G (p.Pro993=) c.2844T>G (p.Pro948=) c.2896-53T>G (n.2896-53T>G) | |
16 | g.28836071G>A | CA7985165 | ATXN2L | c.3034G>A (p.Ala1012Thr) c.1009G>A (p.Ala337Thr) n.3408G>A c.229G>A (p.Ala77Thr) c.3052G>A (p.Ala1018Thr) c.2098G>A (n.2098G>A) c.303G>A c.1012G>A (p.Ala338Thr) c.554G>A c.3055G>A (p.Ala1019Thr) c.3037G>A (p.Ala1013Thr) c.2875G>A (p.Ala959Thr) c.2983G>A (p.Ala995Thr) c.2965G>A (p.Ala989Thr) c.2689G>A (p.Ala897Thr) n.3264G>A c.2857G>A (p.Ala953Thr) c.2671G>A (p.Ala891Thr) n.3267G>A c.2962G>A (p.Ala988Thr) c.3028G>A (p.Ala1010Thr) c.2980G>A (p.Ala994Thr) c.2845G>A (p.Ala949Thr) c.2896-52G>A (n.2896-52G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836071G>C | CA395409245 | ATXN2L | c.3034G>C (p.Ala1012Pro) c.1009G>C (p.Ala337Pro) n.3408G>C c.229G>C (p.Ala77Pro) c.3052G>C (p.Ala1018Pro) c.2098G>C (n.2098G>C) c.303G>C c.1012G>C (p.Ala338Pro) c.554G>C c.3055G>C (p.Ala1019Pro) c.3037G>C (p.Ala1013Pro) c.2875G>C (p.Ala959Pro) c.2983G>C (p.Ala995Pro) c.2965G>C (p.Ala989Pro) c.2689G>C (p.Ala897Pro) n.3264G>C c.2857G>C (p.Ala953Pro) c.2671G>C (p.Ala891Pro) n.3267G>C c.2962G>C (p.Ala988Pro) c.3028G>C (p.Ala1010Pro) c.2980G>C (p.Ala994Pro) c.2845G>C (p.Ala949Pro) c.2896-52G>C (n.2896-52G>C) | |
16 | g.28836071G= | CA2215806900 | ATXN2L | c.3034G= (p.Ala1012=) c.1009G= (p.Ala337=) n.3408G= c.229G= (p.Ala77=) c.3052G= (p.Ala1018=) c.2098G= (n.2098G=) c.303G= c.1012G= (p.Ala338=) c.554G= c.3055G= (p.Ala1019=) c.3037G= (p.Ala1013=) c.2875G= (p.Ala959=) c.2983G= (p.Ala995=) c.2965G= (p.Ala989=) c.2689G= (p.Ala897=) n.3264G= c.2857G= (p.Ala953=) c.2671G= (p.Ala891=) n.3267G= c.2962G= (p.Ala988=) c.3028G= (p.Ala1010=) c.2980G= (p.Ala994=) c.2845G= (p.Ala949=) c.2896-52G= (n.2896-52G=) | |
16 | g.28836071G>T | CA395409246 | ATXN2L | c.3034G>T (p.Ala1012Ser) c.1009G>T (p.Ala337Ser) n.3408G>T c.229G>T (p.Ala77Ser) c.3052G>T (p.Ala1018Ser) c.2098G>T (n.2098G>T) c.303G>T c.1012G>T (p.Ala338Ser) c.554G>T c.3055G>T (p.Ala1019Ser) c.3037G>T (p.Ala1013Ser) c.2875G>T (p.Ala959Ser) c.2983G>T (p.Ala995Ser) c.2965G>T (p.Ala989Ser) c.2689G>T (p.Ala897Ser) n.3264G>T c.2857G>T (p.Ala953Ser) c.2671G>T (p.Ala891Ser) n.3267G>T c.2962G>T (p.Ala988Ser) c.3028G>T (p.Ala1010Ser) c.2980G>T (p.Ala994Ser) c.2845G>T (p.Ala949Ser) c.2896-52G>T (n.2896-52G>T) | |
16 | g.28836072C>A | CA395409247 | ATXN2L | c.3035C>A (p.Ala1012Glu) c.1010C>A (p.Ala337Glu) n.3409C>A c.230C>A (p.Ala77Glu) c.3053C>A (p.Ala1018Glu) c.2099C>A (n.2099C>A) c.304C>A c.1013C>A (p.Ala338Glu) c.555C>A c.3056C>A (p.Ala1019Glu) c.3038C>A (p.Ala1013Glu) c.2876C>A (p.Ala959Glu) c.2984C>A (p.Ala995Glu) c.2966C>A (p.Ala989Glu) c.2690C>A (p.Ala897Glu) n.3265C>A c.2858C>A (p.Ala953Glu) c.2672C>A (p.Ala891Glu) n.3268C>A c.2963C>A (p.Ala988Glu) c.3029C>A (p.Ala1010Glu) c.2981C>A (p.Ala994Glu) c.2846C>A (p.Ala949Glu) c.2896-51C>A (n.2896-51C>A) | |
16 | g.28836072C>G | CA395409248 | ATXN2L | c.3035C>G (p.Ala1012Gly) c.1010C>G (p.Ala337Gly) n.3409C>G c.230C>G (p.Ala77Gly) c.3053C>G (p.Ala1018Gly) c.2099C>G (n.2099C>G) c.304C>G c.1013C>G (p.Ala338Gly) c.555C>G c.3056C>G (p.Ala1019Gly) c.3038C>G (p.Ala1013Gly) c.2876C>G (p.Ala959Gly) c.2984C>G (p.Ala995Gly) c.2966C>G (p.Ala989Gly) c.2690C>G (p.Ala897Gly) n.3265C>G c.2858C>G (p.Ala953Gly) c.2672C>G (p.Ala891Gly) n.3268C>G c.2963C>G (p.Ala988Gly) c.3029C>G (p.Ala1010Gly) c.2981C>G (p.Ala994Gly) c.2846C>G (p.Ala949Gly) c.2896-51C>G (n.2896-51C>G) | |
16 | g.28836072C>T | CA395409249 | ATXN2L | c.3035C>T (p.Ala1012Val) c.1010C>T (p.Ala337Val) n.3409C>T c.230C>T (p.Ala77Val) c.3053C>T (p.Ala1018Val) c.2099C>T (n.2099C>T) c.304C>T c.1013C>T (p.Ala338Val) c.555C>T c.3056C>T (p.Ala1019Val) c.3038C>T (p.Ala1013Val) c.2876C>T (p.Ala959Val) c.2984C>T (p.Ala995Val) c.2966C>T (p.Ala989Val) c.2690C>T (p.Ala897Val) n.3265C>T c.2858C>T (p.Ala953Val) c.2672C>T (p.Ala891Val) n.3268C>T c.2963C>T (p.Ala988Val) c.3029C>T (p.Ala1010Val) c.2981C>T (p.Ala994Val) c.2846C>T (p.Ala949Val) c.2896-51C>T (n.2896-51C>T) | gnomAD v4 |
16 | g.28836073A>C | CA494869370 | ATXN2L | c.3036A>C (p.Ala1012=) c.1011A>C (p.Ala337=) n.3410A>C c.231A>C (p.Ala77=) c.3054A>C (p.Ala1018=) c.2100A>C (n.2100A>C) c.305A>C c.1014A>C (p.Ala338=) c.556A>C c.3057A>C (p.Ala1019=) c.3039A>C (p.Ala1013=) c.2877A>C (p.Ala959=) c.2985A>C (p.Ala995=) c.2967A>C (p.Ala989=) c.2691A>C (p.Ala897=) n.3266A>C c.2859A>C (p.Ala953=) c.2673A>C (p.Ala891=) n.3269A>C c.2964A>C (p.Ala988=) c.3030A>C (p.Ala1010=) c.2982A>C (p.Ala994=) c.2847A>C (p.Ala949=) c.2896-50A>C (n.2896-50A>C) | |
16 | g.28836073A>G | CA494869371 | ATXN2L | c.3036A>G (p.Ala1012=) c.1011A>G (p.Ala337=) n.3410A>G c.231A>G (p.Ala77=) c.3054A>G (p.Ala1018=) c.2100A>G (n.2100A>G) c.305A>G c.1014A>G (p.Ala338=) c.556A>G c.3057A>G (p.Ala1019=) c.3039A>G (p.Ala1013=) c.2877A>G (p.Ala959=) c.2985A>G (p.Ala995=) c.2967A>G (p.Ala989=) c.2691A>G (p.Ala897=) n.3266A>G c.2859A>G (p.Ala953=) c.2673A>G (p.Ala891=) n.3269A>G c.2964A>G (p.Ala988=) c.3030A>G (p.Ala1010=) c.2982A>G (p.Ala994=) c.2847A>G (p.Ala949=) c.2896-50A>G (n.2896-50A>G) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28836073A>T | CA494869374 | ATXN2L | c.3036A>T (p.Ala1012=) c.1011A>T (p.Ala337=) n.3410A>T c.231A>T (p.Ala77=) c.3054A>T (p.Ala1018=) c.2100A>T (n.2100A>T) c.305A>T c.1014A>T (p.Ala338=) c.556A>T c.3057A>T (p.Ala1019=) c.3039A>T (p.Ala1013=) c.2877A>T (p.Ala959=) c.2985A>T (p.Ala995=) c.2967A>T (p.Ala989=) c.2691A>T (p.Ala897=) n.3266A>T c.2859A>T (p.Ala953=) c.2673A>T (p.Ala891=) n.3269A>T c.2964A>T (p.Ala988=) c.3030A>T (p.Ala1010=) c.2982A>T (p.Ala994=) c.2847A>T (p.Ala949=) c.2896-50A>T (n.2896-50A>T) | |
16 | g.28836074C>A | CA395409250 | ATXN2L | c.3037C>A (p.Leu1013Ile) c.1012C>A (p.Leu338Ile) n.3411C>A c.232C>A (p.Leu78Ile) c.3055C>A (p.Leu1019Ile) c.2101C>A (n.2101C>A) c.306C>A c.1015C>A (p.Leu339Ile) c.557C>A c.3058C>A (p.Leu1020Ile) c.3040C>A (p.Leu1014Ile) c.2878C>A (p.Leu960Ile) c.2986C>A (p.Leu996Ile) c.2968C>A (p.Leu990Ile) c.2692C>A (p.Leu898Ile) n.3267C>A c.2860C>A (p.Leu954Ile) c.2674C>A (p.Leu892Ile) n.3270C>A c.2965C>A (p.Leu989Ile) c.3031C>A (p.Leu1011Ile) c.2983C>A (p.Leu995Ile) c.2848C>A (p.Leu950Ile) c.2896-49C>A (n.2896-49C>A) | |
16 | g.28836074C= | CA2215806903 | ATXN2L | c.3037C= (p.Leu1013=) c.1012C= (p.Leu338=) n.3411C= c.232C= (p.Leu78=) c.3055C= (p.Leu1019=) c.2101C= (n.2101C=) c.306C= c.1015C= (p.Leu339=) c.557C= c.3058C= (p.Leu1020=) c.3040C= (p.Leu1014=) c.2878C= (p.Leu960=) c.2986C= (p.Leu996=) c.2968C= (p.Leu990=) c.2692C= (p.Leu898=) n.3267C= c.2860C= (p.Leu954=) c.2674C= (p.Leu892=) n.3270C= c.2965C= (p.Leu989=) c.3031C= (p.Leu1011=) c.2983C= (p.Leu995=) c.2848C= (p.Leu950=) c.2896-49C= (n.2896-49C=) | |
16 | g.28836074C>G | CA395409252 | ATXN2L | c.3037C>G (p.Leu1013Val) c.1012C>G (p.Leu338Val) n.3411C>G c.232C>G (p.Leu78Val) c.3055C>G (p.Leu1019Val) c.2101C>G (n.2101C>G) c.306C>G c.1015C>G (p.Leu339Val) c.557C>G c.3058C>G (p.Leu1020Val) c.3040C>G (p.Leu1014Val) c.2878C>G (p.Leu960Val) c.2986C>G (p.Leu996Val) c.2968C>G (p.Leu990Val) c.2692C>G (p.Leu898Val) n.3267C>G c.2860C>G (p.Leu954Val) c.2674C>G (p.Leu892Val) n.3270C>G c.2965C>G (p.Leu989Val) c.3031C>G (p.Leu1011Val) c.2983C>G (p.Leu995Val) c.2848C>G (p.Leu950Val) c.2896-49C>G (n.2896-49C>G) | dbSNP |
16 | g.28836074C>T | CA395409251 | ATXN2L | c.3037C>T (p.Leu1013Phe) c.1012C>T (p.Leu338Phe) n.3411C>T c.232C>T (p.Leu78Phe) c.3055C>T (p.Leu1019Phe) c.2101C>T (n.2101C>T) c.306C>T c.1015C>T (p.Leu339Phe) c.557C>T c.3058C>T (p.Leu1020Phe) c.3040C>T (p.Leu1014Phe) c.2878C>T (p.Leu960Phe) c.2986C>T (p.Leu996Phe) c.2968C>T (p.Leu990Phe) c.2692C>T (p.Leu898Phe) n.3267C>T c.2860C>T (p.Leu954Phe) c.2674C>T (p.Leu892Phe) n.3270C>T c.2965C>T (p.Leu989Phe) c.3031C>T (p.Leu1011Phe) c.2983C>T (p.Leu995Phe) c.2848C>T (p.Leu950Phe) c.2896-49C>T (n.2896-49C>T) | |
16 | g.28836075T>A | CA395409253 | ATXN2L | c.3038T>A (p.Leu1013His) c.1013T>A (p.Leu338His) n.3412T>A c.233T>A (p.Leu78His) c.3056T>A (p.Leu1019His) c.2102T>A (n.2102T>A) c.307T>A c.1016T>A (p.Leu339His) c.558T>A c.3059T>A (p.Leu1020His) c.3041T>A (p.Leu1014His) c.2879T>A (p.Leu960His) c.2987T>A (p.Leu996His) c.2969T>A (p.Leu990His) c.2693T>A (p.Leu898His) n.3268T>A c.2861T>A (p.Leu954His) c.2675T>A (p.Leu892His) n.3271T>A c.2966T>A (p.Leu989His) c.3032T>A (p.Leu1011His) c.2984T>A (p.Leu995His) c.2849T>A (p.Leu950His) c.2896-48T>A (n.2896-48T>A) | gnomAD v4 |
16 | g.28836075T>C | CA395409254 | ATXN2L | c.3038T>C (p.Leu1013Pro) c.1013T>C (p.Leu338Pro) n.3412T>C c.233T>C (p.Leu78Pro) c.3056T>C (p.Leu1019Pro) c.2102T>C (n.2102T>C) c.307T>C c.1016T>C (p.Leu339Pro) c.558T>C c.3059T>C (p.Leu1020Pro) c.3041T>C (p.Leu1014Pro) c.2879T>C (p.Leu960Pro) c.2987T>C (p.Leu996Pro) c.2969T>C (p.Leu990Pro) c.2693T>C (p.Leu898Pro) n.3268T>C c.2861T>C (p.Leu954Pro) c.2675T>C (p.Leu892Pro) n.3271T>C c.2966T>C (p.Leu989Pro) c.3032T>C (p.Leu1011Pro) c.2984T>C (p.Leu995Pro) c.2849T>C (p.Leu950Pro) c.2896-48T>C (n.2896-48T>C) | |
16 | g.28836075T>G | CA395409255 | ATXN2L | c.3038T>G (p.Leu1013Arg) c.1013T>G (p.Leu338Arg) n.3412T>G c.233T>G (p.Leu78Arg) c.3056T>G (p.Leu1019Arg) c.2102T>G (n.2102T>G) c.307T>G c.1016T>G (p.Leu339Arg) c.558T>G c.3059T>G (p.Leu1020Arg) c.3041T>G (p.Leu1014Arg) c.2879T>G (p.Leu960Arg) c.2987T>G (p.Leu996Arg) c.2969T>G (p.Leu990Arg) c.2693T>G (p.Leu898Arg) n.3268T>G c.2861T>G (p.Leu954Arg) c.2675T>G (p.Leu892Arg) n.3271T>G c.2966T>G (p.Leu989Arg) c.3032T>G (p.Leu1011Arg) c.2984T>G (p.Leu995Arg) c.2849T>G (p.Leu950Arg) c.2896-48T>G (n.2896-48T>G) | |
16 | g.28836076C>A | CA494869380 | ATXN2L | c.3039C>A (p.Leu1013=) c.1014C>A (p.Leu338=) n.3413C>A c.234C>A (p.Leu78=) c.3057C>A (p.Leu1019=) c.2103C>A (n.2103C>A) c.308C>A c.1017C>A (p.Leu339=) c.559C>A c.3060C>A (p.Leu1020=) c.3042C>A (p.Leu1014=) c.2880C>A (p.Leu960=) c.2988C>A (p.Leu996=) c.2970C>A (p.Leu990=) c.2694C>A (p.Leu898=) n.3269C>A c.2862C>A (p.Leu954=) c.2676C>A (p.Leu892=) n.3272C>A c.2967C>A (p.Leu989=) c.3033C>A (p.Leu1011=) c.2985C>A (p.Leu995=) c.2850C>A (p.Leu950=) c.2896-47C>A (n.2896-47C>A) | |
16 | g.28836076C= | CA2215806907 | ATXN2L | c.3039C= (p.Leu1013=) c.1014C= (p.Leu338=) n.3413C= c.234C= (p.Leu78=) c.3057C= (p.Leu1019=) c.2103C= (n.2103C=) c.308C= c.1017C= (p.Leu339=) c.559C= c.3060C= (p.Leu1020=) c.3042C= (p.Leu1014=) c.2880C= (p.Leu960=) c.2988C= (p.Leu996=) c.2970C= (p.Leu990=) c.2694C= (p.Leu898=) n.3269C= c.2862C= (p.Leu954=) c.2676C= (p.Leu892=) n.3272C= c.2967C= (p.Leu989=) c.3033C= (p.Leu1011=) c.2985C= (p.Leu995=) c.2850C= (p.Leu950=) c.2896-47C= (n.2896-47C=) | |
16 | g.28836076C>G | CA494869382 | ATXN2L | c.3039C>G (p.Leu1013=) c.1014C>G (p.Leu338=) n.3413C>G c.234C>G (p.Leu78=) c.3057C>G (p.Leu1019=) c.2103C>G (n.2103C>G) c.308C>G c.1017C>G (p.Leu339=) c.559C>G c.3060C>G (p.Leu1020=) c.3042C>G (p.Leu1014=) c.2880C>G (p.Leu960=) c.2988C>G (p.Leu996=) c.2970C>G (p.Leu990=) c.2694C>G (p.Leu898=) n.3269C>G c.2862C>G (p.Leu954=) c.2676C>G (p.Leu892=) n.3272C>G c.2967C>G (p.Leu989=) c.3033C>G (p.Leu1011=) c.2985C>G (p.Leu995=) c.2850C>G (p.Leu950=) c.2896-47C>G (n.2896-47C>G) | gnomAD v4 COSMIC COSMIC |
16 | g.28836076C>T | CA7985166 | ATXN2L | c.3039C>T (p.Leu1013=) c.1014C>T (p.Leu338=) n.3413C>T c.234C>T (p.Leu78=) c.3057C>T (p.Leu1019=) c.2103C>T (n.2103C>T) c.308C>T c.1017C>T (p.Leu339=) c.559C>T c.3060C>T (p.Leu1020=) c.3042C>T (p.Leu1014=) c.2880C>T (p.Leu960=) c.2988C>T (p.Leu996=) c.2970C>T (p.Leu990=) c.2694C>T (p.Leu898=) n.3269C>T c.2862C>T (p.Leu954=) c.2676C>T (p.Leu892=) n.3272C>T c.2967C>T (p.Leu989=) c.3033C>T (p.Leu1011=) c.2985C>T (p.Leu995=) c.2850C>T (p.Leu950=) c.2896-47C>T (n.2896-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836077T>A | CA395409258 | ATXN2L | c.3040T>A (p.Ser1014Thr) c.1015T>A (p.Ser339Thr) n.3414T>A c.235T>A (p.Ser79Thr) c.3058T>A (p.Ser1020Thr) c.2104T>A (n.2104T>A) c.309T>A c.1018T>A (p.Ser340Thr) c.3061T>A (p.Ser1021Thr) c.3043T>A (p.Ser1015Thr) c.2881T>A (p.Ser961Thr) c.2989T>A (p.Ser997Thr) c.2971T>A (p.Ser991Thr) c.2695T>A (p.Ser899Thr) n.3270T>A c.2863T>A (p.Ser955Thr) c.2677T>A (p.Ser893Thr) n.3273T>A c.2968T>A (p.Ser990Thr) c.3034T>A (p.Ser1012Thr) c.2986T>A (p.Ser996Thr) c.2851T>A (p.Ser951Thr) c.2896-46T>A (n.2896-46T>A) | |
16 | g.28836077T>C | CA395409257 | ATXN2L | c.3040T>C (p.Ser1014Pro) c.1015T>C (p.Ser339Pro) n.3414T>C c.235T>C (p.Ser79Pro) c.3058T>C (p.Ser1020Pro) c.2104T>C (n.2104T>C) c.309T>C c.1018T>C (p.Ser340Pro) c.3061T>C (p.Ser1021Pro) c.3043T>C (p.Ser1015Pro) c.2881T>C (p.Ser961Pro) c.2989T>C (p.Ser997Pro) c.2971T>C (p.Ser991Pro) c.2695T>C (p.Ser899Pro) n.3270T>C c.2863T>C (p.Ser955Pro) c.2677T>C (p.Ser893Pro) n.3273T>C c.2968T>C (p.Ser990Pro) c.3034T>C (p.Ser1012Pro) c.2986T>C (p.Ser996Pro) c.2851T>C (p.Ser951Pro) c.2896-46T>C (n.2896-46T>C) | |
16 | g.28836077T>G | CA395409256 | ATXN2L | c.3040T>G (p.Ser1014Ala) c.1015T>G (p.Ser339Ala) n.3414T>G c.235T>G (p.Ser79Ala) c.3058T>G (p.Ser1020Ala) c.2104T>G (n.2104T>G) c.309T>G c.1018T>G (p.Ser340Ala) c.3061T>G (p.Ser1021Ala) c.3043T>G (p.Ser1015Ala) c.2881T>G (p.Ser961Ala) c.2989T>G (p.Ser997Ala) c.2971T>G (p.Ser991Ala) c.2695T>G (p.Ser899Ala) n.3270T>G c.2863T>G (p.Ser955Ala) c.2677T>G (p.Ser893Ala) n.3273T>G c.2968T>G (p.Ser990Ala) c.3034T>G (p.Ser1012Ala) c.2986T>G (p.Ser996Ala) c.2851T>G (p.Ser951Ala) c.2896-46T>G (n.2896-46T>G) | |
16 | g.28836078C>A | CA395409259 | ATXN2L | c.3041C>A (p.Ser1014Ter) c.1016C>A (p.Ser339Ter) n.3415C>A c.236C>A (p.Ser79Ter) c.3059C>A (p.Ser1020Ter) c.2105C>A (n.2105C>A) c.310C>A c.1019C>A (p.Ser340Ter) c.3062C>A (p.Ser1021Ter) c.3044C>A (p.Ser1015Ter) c.2882C>A (p.Ser961Ter) c.2990C>A (p.Ser997Ter) c.2972C>A (p.Ser991Ter) c.2696C>A (p.Ser899Ter) n.3271C>A c.2864C>A (p.Ser955Ter) c.2678C>A (p.Ser893Ter) n.3274C>A c.2969C>A (p.Ser990Ter) c.3035C>A (p.Ser1012Ter) c.2987C>A (p.Ser996Ter) c.2852C>A (p.Ser951Ter) c.2896-45C>A (n.2896-45C>A) | |
16 | g.28836078C= | CA2215806910 | ATXN2L | c.3041C= (p.Ser1014=) c.1016C= (p.Ser339=) n.3415C= c.236C= (p.Ser79=) c.3059C= (p.Ser1020=) c.2105C= (n.2105C=) c.310C= c.1019C= (p.Ser340=) c.3062C= (p.Ser1021=) c.3044C= (p.Ser1015=) c.2882C= (p.Ser961=) c.2990C= (p.Ser997=) c.2972C= (p.Ser991=) c.2696C= (p.Ser899=) n.3271C= c.2864C= (p.Ser955=) c.2678C= (p.Ser893=) n.3274C= c.2969C= (p.Ser990=) c.3035C= (p.Ser1012=) c.2987C= (p.Ser996=) c.2852C= (p.Ser951=) c.2896-45C= (n.2896-45C=) | |
16 | g.28836078C>G | CA395409261 | ATXN2L | c.3041C>G (p.Ser1014Ter) c.1016C>G (p.Ser339Ter) n.3415C>G c.236C>G (p.Ser79Ter) c.3059C>G (p.Ser1020Ter) c.2105C>G (n.2105C>G) c.310C>G c.1019C>G (p.Ser340Ter) c.3062C>G (p.Ser1021Ter) c.3044C>G (p.Ser1015Ter) c.2882C>G (p.Ser961Ter) c.2990C>G (p.Ser997Ter) c.2972C>G (p.Ser991Ter) c.2696C>G (p.Ser899Ter) n.3271C>G c.2864C>G (p.Ser955Ter) c.2678C>G (p.Ser893Ter) n.3274C>G c.2969C>G (p.Ser990Ter) c.3035C>G (p.Ser1012Ter) c.2987C>G (p.Ser996Ter) c.2852C>G (p.Ser951Ter) c.2896-45C>G (n.2896-45C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836078C>T | CA395409260 | ATXN2L | c.3041C>T (p.Ser1014Leu) c.1016C>T (p.Ser339Leu) n.3415C>T c.236C>T (p.Ser79Leu) c.3059C>T (p.Ser1020Leu) c.2105C>T (n.2105C>T) c.310C>T c.1019C>T (p.Ser340Leu) c.3062C>T (p.Ser1021Leu) c.3044C>T (p.Ser1015Leu) c.2882C>T (p.Ser961Leu) c.2990C>T (p.Ser997Leu) c.2972C>T (p.Ser991Leu) c.2696C>T (p.Ser899Leu) n.3271C>T c.2864C>T (p.Ser955Leu) c.2678C>T (p.Ser893Leu) n.3274C>T c.2969C>T (p.Ser990Leu) c.3035C>T (p.Ser1012Leu) c.2987C>T (p.Ser996Leu) c.2852C>T (p.Ser951Leu) c.2896-45C>T (n.2896-45C>T) | gnomAD v4 |
16 | g.28836079A>C | CA494869394 | ATXN2L | c.3042A>C (p.Ser1014=) c.1017A>C (p.Ser339=) n.3416A>C c.237A>C (p.Ser79=) c.3060A>C (p.Ser1020=) c.2106A>C (n.2106A>C) c.311A>C c.1020A>C (p.Ser340=) c.3063A>C (p.Ser1021=) c.3045A>C (p.Ser1015=) c.2883A>C (p.Ser961=) c.2991A>C (p.Ser997=) c.2973A>C (p.Ser991=) c.2697A>C (p.Ser899=) n.3272A>C c.2865A>C (p.Ser955=) c.2679A>C (p.Ser893=) n.3275A>C c.2970A>C (p.Ser990=) c.3036A>C (p.Ser1012=) c.2988A>C (p.Ser996=) c.2853A>C (p.Ser951=) c.2896-44A>C (n.2896-44A>C) | |
16 | g.28836079A>G | CA494869395 | ATXN2L | c.3042A>G (p.Ser1014=) c.1017A>G (p.Ser339=) n.3416A>G c.237A>G (p.Ser79=) c.3060A>G (p.Ser1020=) c.2106A>G (n.2106A>G) c.311A>G c.1020A>G (p.Ser340=) c.3063A>G (p.Ser1021=) c.3045A>G (p.Ser1015=) c.2883A>G (p.Ser961=) c.2991A>G (p.Ser997=) c.2973A>G (p.Ser991=) c.2697A>G (p.Ser899=) n.3272A>G c.2865A>G (p.Ser955=) c.2679A>G (p.Ser893=) n.3275A>G c.2970A>G (p.Ser990=) c.3036A>G (p.Ser1012=) c.2988A>G (p.Ser996=) c.2853A>G (p.Ser951=) c.2896-44A>G (n.2896-44A>G) | |
16 | g.28836079A>T | CA494869398 | ATXN2L | c.3042A>T (p.Ser1014=) c.1017A>T (p.Ser339=) n.3416A>T c.237A>T (p.Ser79=) c.3060A>T (p.Ser1020=) c.2106A>T (n.2106A>T) c.311A>T c.1020A>T (p.Ser340=) c.3063A>T (p.Ser1021=) c.3045A>T (p.Ser1015=) c.2883A>T (p.Ser961=) c.2991A>T (p.Ser997=) c.2973A>T (p.Ser991=) c.2697A>T (p.Ser899=) n.3272A>T c.2865A>T (p.Ser955=) c.2679A>T (p.Ser893=) n.3275A>T c.2970A>T (p.Ser990=) c.3036A>T (p.Ser1012=) c.2988A>T (p.Ser996=) c.2853A>T (p.Ser951=) c.2896-44A>T (n.2896-44A>T) | |
16 | g.28836080G>A | CA395409262 | ATXN2L | c.3043G>A (p.Ala1015Thr) c.1018G>A (p.Ala340Thr) n.3417G>A c.238G>A (p.Ala80Thr) c.3061G>A (p.Ala1021Thr) c.2107G>A (n.2107G>A) c.312G>A c.1021G>A (p.Ala341Thr) c.3064G>A (p.Ala1022Thr) c.3046G>A (p.Ala1016Thr) c.2884G>A (p.Ala962Thr) c.2992G>A (p.Ala998Thr) c.2974G>A (p.Ala992Thr) c.2698G>A (p.Ala900Thr) n.3273G>A c.2866G>A (p.Ala956Thr) c.2680G>A (p.Ala894Thr) n.3276G>A c.2971G>A (p.Ala991Thr) c.3037G>A (p.Ala1013Thr) c.2989G>A (p.Ala997Thr) c.2854G>A (p.Ala952Thr) c.2896-43G>A (n.2896-43G>A) | gnomAD v4 |
16 | g.28836080G>C | CA395409263 | ATXN2L | c.3043G>C (p.Ala1015Pro) c.1018G>C (p.Ala340Pro) n.3417G>C c.238G>C (p.Ala80Pro) c.3061G>C (p.Ala1021Pro) c.2107G>C (n.2107G>C) c.312G>C c.1021G>C (p.Ala341Pro) c.3064G>C (p.Ala1022Pro) c.3046G>C (p.Ala1016Pro) c.2884G>C (p.Ala962Pro) c.2992G>C (p.Ala998Pro) c.2974G>C (p.Ala992Pro) c.2698G>C (p.Ala900Pro) n.3273G>C c.2866G>C (p.Ala956Pro) c.2680G>C (p.Ala894Pro) n.3276G>C c.2971G>C (p.Ala991Pro) c.3037G>C (p.Ala1013Pro) c.2989G>C (p.Ala997Pro) c.2854G>C (p.Ala952Pro) c.2896-43G>C (n.2896-43G>C) | |
16 | g.28836080G>T | CA395409264 | ATXN2L | c.3043G>T (p.Ala1015Ser) c.1018G>T (p.Ala340Ser) n.3417G>T c.238G>T (p.Ala80Ser) c.3061G>T (p.Ala1021Ser) c.2107G>T (n.2107G>T) c.312G>T c.1021G>T (p.Ala341Ser) c.3064G>T (p.Ala1022Ser) c.3046G>T (p.Ala1016Ser) c.2884G>T (p.Ala962Ser) c.2992G>T (p.Ala998Ser) c.2974G>T (p.Ala992Ser) c.2698G>T (p.Ala900Ser) n.3273G>T c.2866G>T (p.Ala956Ser) c.2680G>T (p.Ala894Ser) n.3276G>T c.2971G>T (p.Ala991Ser) c.3037G>T (p.Ala1013Ser) c.2989G>T (p.Ala997Ser) c.2854G>T (p.Ala952Ser) c.2896-43G>T (n.2896-43G>T) | |
16 | g.28836081C>A | CA395409265 | ATXN2L | c.3044C>A (p.Ala1015Asp) c.1019C>A (p.Ala340Asp) n.3418C>A c.239C>A (p.Ala80Asp) c.3062C>A (p.Ala1021Asp) c.2108C>A (n.2108C>A) c.313C>A c.1022C>A (p.Ala341Asp) c.3065C>A (p.Ala1022Asp) c.3047C>A (p.Ala1016Asp) c.2885C>A (p.Ala962Asp) c.2993C>A (p.Ala998Asp) c.2975C>A (p.Ala992Asp) c.2699C>A (p.Ala900Asp) n.3274C>A c.2867C>A (p.Ala956Asp) c.2681C>A (p.Ala894Asp) n.3277C>A c.2972C>A (p.Ala991Asp) c.3038C>A (p.Ala1013Asp) c.2990C>A (p.Ala997Asp) c.2855C>A (p.Ala952Asp) c.2896-42C>A (n.2896-42C>A) | |
16 | g.28836081C= | CA2215806913 | ATXN2L | c.3044C= (p.Ala1015=) c.1019C= (p.Ala340=) n.3418C= c.239C= (p.Ala80=) c.3062C= (p.Ala1021=) c.2108C= (n.2108C=) c.313C= c.1022C= (p.Ala341=) c.3065C= (p.Ala1022=) c.3047C= (p.Ala1016=) c.2885C= (p.Ala962=) c.2993C= (p.Ala998=) c.2975C= (p.Ala992=) c.2699C= (p.Ala900=) n.3274C= c.2867C= (p.Ala956=) c.2681C= (p.Ala894=) n.3277C= c.2972C= (p.Ala991=) c.3038C= (p.Ala1013=) c.2990C= (p.Ala997=) c.2855C= (p.Ala952=) c.2896-42C= (n.2896-42C=) | |
16 | g.28836081C>G | CA395409266 | ATXN2L | c.3044C>G (p.Ala1015Gly) c.1019C>G (p.Ala340Gly) n.3418C>G c.239C>G (p.Ala80Gly) c.3062C>G (p.Ala1021Gly) c.2108C>G (n.2108C>G) c.313C>G c.1022C>G (p.Ala341Gly) c.3065C>G (p.Ala1022Gly) c.3047C>G (p.Ala1016Gly) c.2885C>G (p.Ala962Gly) c.2993C>G (p.Ala998Gly) c.2975C>G (p.Ala992Gly) c.2699C>G (p.Ala900Gly) n.3274C>G c.2867C>G (p.Ala956Gly) c.2681C>G (p.Ala894Gly) n.3277C>G c.2972C>G (p.Ala991Gly) c.3038C>G (p.Ala1013Gly) c.2990C>G (p.Ala997Gly) c.2855C>G (p.Ala952Gly) c.2896-42C>G (n.2896-42C>G) | |
16 | g.28836081C>T | CA7985167 | ATXN2L | c.3044C>T (p.Ala1015Val) c.1019C>T (p.Ala340Val) n.3418C>T c.239C>T (p.Ala80Val) c.3062C>T (p.Ala1021Val) c.2108C>T (n.2108C>T) c.313C>T c.1022C>T (p.Ala341Val) c.3065C>T (p.Ala1022Val) c.3047C>T (p.Ala1016Val) c.2885C>T (p.Ala962Val) c.2993C>T (p.Ala998Val) c.2975C>T (p.Ala992Val) c.2699C>T (p.Ala900Val) n.3274C>T c.2867C>T (p.Ala956Val) c.2681C>T (p.Ala894Val) n.3277C>T c.2972C>T (p.Ala991Val) c.3038C>T (p.Ala1013Val) c.2990C>T (p.Ala997Val) c.2855C>T (p.Ala952Val) c.2896-42C>T (n.2896-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836082T>A | CA494869411 | ATXN2L | c.3045T>A (p.Ala1015=) c.1020T>A (p.Ala340=) n.3419T>A c.240T>A (p.Ala80=) c.3063T>A (p.Ala1021=) c.2109T>A (n.2109T>A) c.314T>A c.1023T>A (p.Ala341=) c.3066T>A (p.Ala1022=) c.3048T>A (p.Ala1016=) c.2886T>A (p.Ala962=) c.2994T>A (p.Ala998=) c.2976T>A (p.Ala992=) c.2700T>A (p.Ala900=) n.3275T>A c.2868T>A (p.Ala956=) c.2682T>A (p.Ala894=) n.3278T>A c.2973T>A (p.Ala991=) c.3039T>A (p.Ala1013=) c.2991T>A (p.Ala997=) c.2856T>A (p.Ala952=) c.2896-41T>A (n.2896-41T>A) | |
16 | g.28836082T>C | CA494869407 | ATXN2L | c.3045T>C (p.Ala1015=) c.1020T>C (p.Ala340=) n.3419T>C c.240T>C (p.Ala80=) c.3063T>C (p.Ala1021=) c.2109T>C (n.2109T>C) c.314T>C c.1023T>C (p.Ala341=) c.3066T>C (p.Ala1022=) c.3048T>C (p.Ala1016=) c.2886T>C (p.Ala962=) c.2994T>C (p.Ala998=) c.2976T>C (p.Ala992=) c.2700T>C (p.Ala900=) n.3275T>C c.2868T>C (p.Ala956=) c.2682T>C (p.Ala894=) n.3278T>C c.2973T>C (p.Ala991=) c.3039T>C (p.Ala1013=) c.2991T>C (p.Ala997=) c.2856T>C (p.Ala952=) c.2896-41T>C (n.2896-41T>C) | |
16 | g.28836082T>G | CA494869406 | ATXN2L | c.3045T>G (p.Ala1015=) c.1020T>G (p.Ala340=) n.3419T>G c.240T>G (p.Ala80=) c.3063T>G (p.Ala1021=) c.2109T>G (n.2109T>G) c.314T>G c.1023T>G (p.Ala341=) c.3066T>G (p.Ala1022=) c.3048T>G (p.Ala1016=) c.2886T>G (p.Ala962=) c.2994T>G (p.Ala998=) c.2976T>G (p.Ala992=) c.2700T>G (p.Ala900=) n.3275T>G c.2868T>G (p.Ala956=) c.2682T>G (p.Ala894=) n.3278T>G c.2973T>G (p.Ala991=) c.3039T>G (p.Ala1013=) c.2991T>G (p.Ala997=) c.2856T>G (p.Ala952=) c.2896-41T>G (n.2896-41T>G) | |
16 | g.28836083T>A | CA395409269 | ATXN2L | c.3046T>A (p.Ser1016Thr) c.1021T>A (p.Ser341Thr) n.3420T>A c.241T>A (p.Ser81Thr) c.3064T>A (p.Ser1022Thr) c.2110T>A (n.2110T>A) c.315T>A c.1024T>A (p.Ser342Thr) c.3067T>A (p.Ser1023Thr) c.3049T>A (p.Ser1017Thr) c.2887T>A (p.Ser963Thr) c.2995T>A (p.Ser999Thr) c.2977T>A (p.Ser993Thr) c.2701T>A (p.Ser901Thr) n.3276T>A c.2869T>A (p.Ser957Thr) c.2683T>A (p.Ser895Thr) n.3279T>A c.2974T>A (p.Ser992Thr) c.3040T>A (p.Ser1014Thr) c.2992T>A (p.Ser998Thr) c.2857T>A (p.Ser953Thr) c.2896-40T>A (n.2896-40T>A) | |
16 | g.28836083T>C | CA395409268 | ATXN2L | c.3046T>C (p.Ser1016Pro) c.1021T>C (p.Ser341Pro) n.3420T>C c.241T>C (p.Ser81Pro) c.3064T>C (p.Ser1022Pro) c.2110T>C (n.2110T>C) c.315T>C c.1024T>C (p.Ser342Pro) c.3067T>C (p.Ser1023Pro) c.3049T>C (p.Ser1017Pro) c.2887T>C (p.Ser963Pro) c.2995T>C (p.Ser999Pro) c.2977T>C (p.Ser993Pro) c.2701T>C (p.Ser901Pro) n.3276T>C c.2869T>C (p.Ser957Pro) c.2683T>C (p.Ser895Pro) n.3279T>C c.2974T>C (p.Ser992Pro) c.3040T>C (p.Ser1014Pro) c.2992T>C (p.Ser998Pro) c.2857T>C (p.Ser953Pro) c.2896-40T>C (n.2896-40T>C) | |
16 | g.28836083T>G | CA395409267 | ATXN2L | c.3046T>G (p.Ser1016Ala) c.1021T>G (p.Ser341Ala) n.3420T>G c.241T>G (p.Ser81Ala) c.3064T>G (p.Ser1022Ala) c.2110T>G (n.2110T>G) c.315T>G c.1024T>G (p.Ser342Ala) c.3067T>G (p.Ser1023Ala) c.3049T>G (p.Ser1017Ala) c.2887T>G (p.Ser963Ala) c.2995T>G (p.Ser999Ala) c.2977T>G (p.Ser993Ala) c.2701T>G (p.Ser901Ala) n.3276T>G c.2869T>G (p.Ser957Ala) c.2683T>G (p.Ser895Ala) n.3279T>G c.2974T>G (p.Ser992Ala) c.3040T>G (p.Ser1014Ala) c.2992T>G (p.Ser998Ala) c.2857T>G (p.Ser953Ala) c.2896-40T>G (n.2896-40T>G) | |
16 | g.28836084C>A | CA395409270 | ATXN2L | c.3047C>A (p.Ser1016Tyr) c.1022C>A (p.Ser341Tyr) n.3421C>A c.242C>A (p.Ser81Tyr) c.3065C>A (p.Ser1022Tyr) c.2111C>A (n.2111C>A) c.316C>A c.1025C>A (p.Ser342Tyr) c.3068C>A (p.Ser1023Tyr) c.3050C>A (p.Ser1017Tyr) c.2888C>A (p.Ser963Tyr) c.2996C>A (p.Ser999Tyr) c.2978C>A (p.Ser993Tyr) c.2702C>A (p.Ser901Tyr) n.3277C>A c.2870C>A (p.Ser957Tyr) c.2684C>A (p.Ser895Tyr) n.3280C>A c.2975C>A (p.Ser992Tyr) c.3041C>A (p.Ser1014Tyr) c.2993C>A (p.Ser998Tyr) c.2858C>A (p.Ser953Tyr) c.2896-39C>A (n.2896-39C>A) | |
16 | g.28836084C= | CA2215806916 | ATXN2L | c.3047C= (p.Ser1016=) c.1022C= (p.Ser341=) n.3421C= c.242C= (p.Ser81=) c.3065C= (p.Ser1022=) c.2111C= (n.2111C=) c.316C= c.1025C= (p.Ser342=) c.3068C= (p.Ser1023=) c.3050C= (p.Ser1017=) c.2888C= (p.Ser963=) c.2996C= (p.Ser999=) c.2978C= (p.Ser993=) c.2702C= (p.Ser901=) n.3277C= c.2870C= (p.Ser957=) c.2684C= (p.Ser895=) n.3280C= c.2975C= (p.Ser992=) c.3041C= (p.Ser1014=) c.2993C= (p.Ser998=) c.2858C= (p.Ser953=) c.2896-39C= (n.2896-39C=) | |
16 | g.28836084C>G | CA395409271 | ATXN2L | c.3047C>G (p.Ser1016Cys) c.1022C>G (p.Ser341Cys) n.3421C>G c.242C>G (p.Ser81Cys) c.3065C>G (p.Ser1022Cys) c.2111C>G (n.2111C>G) c.316C>G c.1025C>G (p.Ser342Cys) c.3068C>G (p.Ser1023Cys) c.3050C>G (p.Ser1017Cys) c.2888C>G (p.Ser963Cys) c.2996C>G (p.Ser999Cys) c.2978C>G (p.Ser993Cys) c.2702C>G (p.Ser901Cys) n.3277C>G c.2870C>G (p.Ser957Cys) c.2684C>G (p.Ser895Cys) n.3280C>G c.2975C>G (p.Ser992Cys) c.3041C>G (p.Ser1014Cys) c.2993C>G (p.Ser998Cys) c.2858C>G (p.Ser953Cys) c.2896-39C>G (n.2896-39C>G) | |
16 | g.28836084C>T | CA279230922 | ATXN2L | c.3047C>T (p.Ser1016Phe) c.1022C>T (p.Ser341Phe) n.3421C>T c.242C>T (p.Ser81Phe) c.3065C>T (p.Ser1022Phe) c.2111C>T (n.2111C>T) c.316C>T c.1025C>T (p.Ser342Phe) c.3068C>T (p.Ser1023Phe) c.3050C>T (p.Ser1017Phe) c.2888C>T (p.Ser963Phe) c.2996C>T (p.Ser999Phe) c.2978C>T (p.Ser993Phe) c.2702C>T (p.Ser901Phe) n.3277C>T c.2870C>T (p.Ser957Phe) c.2684C>T (p.Ser895Phe) n.3280C>T c.2975C>T (p.Ser992Phe) c.3041C>T (p.Ser1014Phe) c.2993C>T (p.Ser998Phe) c.2858C>T (p.Ser953Phe) c.2896-39C>T (n.2896-39C>T) | dbSNP |
16 | g.28836085C>A | CA494869427 | ATXN2L | c.3048C>A (p.Ser1016=) c.1023C>A (p.Ser341=) n.3422C>A c.243C>A (p.Ser81=) c.3066C>A (p.Ser1022=) c.2112C>A (n.2112C>A) c.317C>A c.1026C>A (p.Ser342=) c.3069C>A (p.Ser1023=) c.3051C>A (p.Ser1017=) c.2889C>A (p.Ser963=) c.2997C>A (p.Ser999=) c.2979C>A (p.Ser993=) c.2703C>A (p.Ser901=) n.3278C>A c.2871C>A (p.Ser957=) c.2685C>A (p.Ser895=) n.3281C>A c.2976C>A (p.Ser992=) c.3042C>A (p.Ser1014=) c.2994C>A (p.Ser998=) c.2859C>A (p.Ser953=) c.2896-38C>A (n.2896-38C>A) | |
16 | g.28836085C>G | CA494869426 | ATXN2L | c.3048C>G (p.Ser1016=) c.1023C>G (p.Ser341=) n.3422C>G c.243C>G (p.Ser81=) c.3066C>G (p.Ser1022=) c.2112C>G (n.2112C>G) c.317C>G c.1026C>G (p.Ser342=) c.3069C>G (p.Ser1023=) c.3051C>G (p.Ser1017=) c.2889C>G (p.Ser963=) c.2997C>G (p.Ser999=) c.2979C>G (p.Ser993=) c.2703C>G (p.Ser901=) n.3278C>G c.2871C>G (p.Ser957=) c.2685C>G (p.Ser895=) n.3281C>G c.2976C>G (p.Ser992=) c.3042C>G (p.Ser1014=) c.2994C>G (p.Ser998=) c.2859C>G (p.Ser953=) c.2896-38C>G (n.2896-38C>G) | |
16 | g.28836085C>T | CA494869424 | ATXN2L | c.3048C>T (p.Ser1016=) c.1023C>T (p.Ser341=) n.3422C>T c.243C>T (p.Ser81=) c.3066C>T (p.Ser1022=) c.2112C>T (n.2112C>T) c.317C>T c.1026C>T (p.Ser342=) c.3069C>T (p.Ser1023=) c.3051C>T (p.Ser1017=) c.2889C>T (p.Ser963=) c.2997C>T (p.Ser999=) c.2979C>T (p.Ser993=) c.2703C>T (p.Ser901=) n.3278C>T c.2871C>T (p.Ser957=) c.2685C>T (p.Ser895=) n.3281C>T c.2976C>T (p.Ser992=) c.3042C>T (p.Ser1014=) c.2994C>T (p.Ser998=) c.2859C>T (p.Ser953=) c.2896-38C>T (n.2896-38C>T) | |
16 | g.28836086A>C | CA395409272 | ATXN2L | c.3049A>C (p.Thr1017Pro) c.1024A>C (p.Thr342Pro) n.3423A>C c.244A>C (p.Thr82Pro) c.3067A>C (p.Thr1023Pro) c.2113A>C (n.2113A>C) c.318A>C c.1027A>C (p.Thr343Pro) c.3070A>C (p.Thr1024Pro) c.3052A>C (p.Thr1018Pro) c.2890A>C (p.Thr964Pro) c.2998A>C (p.Thr1000Pro) c.2980A>C (p.Thr994Pro) c.2704A>C (p.Thr902Pro) n.3279A>C c.2872A>C (p.Thr958Pro) c.2686A>C (p.Thr896Pro) n.3282A>C c.2977A>C (p.Thr993Pro) c.3043A>C (p.Thr1015Pro) c.2995A>C (p.Thr999Pro) c.2860A>C (p.Thr954Pro) c.2896-37A>C (n.2896-37A>C) | |
16 | g.28836086A>G | CA395409273 | ATXN2L | c.3049A>G (p.Thr1017Ala) c.1024A>G (p.Thr342Ala) n.3423A>G c.244A>G (p.Thr82Ala) c.3067A>G (p.Thr1023Ala) c.2113A>G (n.2113A>G) c.318A>G c.1027A>G (p.Thr343Ala) c.3070A>G (p.Thr1024Ala) c.3052A>G (p.Thr1018Ala) c.2890A>G (p.Thr964Ala) c.2998A>G (p.Thr1000Ala) c.2980A>G (p.Thr994Ala) c.2704A>G (p.Thr902Ala) n.3279A>G c.2872A>G (p.Thr958Ala) c.2686A>G (p.Thr896Ala) n.3282A>G c.2977A>G (p.Thr993Ala) c.3043A>G (p.Thr1015Ala) c.2995A>G (p.Thr999Ala) c.2860A>G (p.Thr954Ala) c.2896-37A>G (n.2896-37A>G) | gnomAD v4 |
16 | g.28836086A>T | CA395409274 | ATXN2L | c.3049A>T (p.Thr1017Ser) c.1024A>T (p.Thr342Ser) n.3423A>T c.244A>T (p.Thr82Ser) c.3067A>T (p.Thr1023Ser) c.2113A>T (n.2113A>T) c.318A>T c.1027A>T (p.Thr343Ser) c.3070A>T (p.Thr1024Ser) c.3052A>T (p.Thr1018Ser) c.2890A>T (p.Thr964Ser) c.2998A>T (p.Thr1000Ser) c.2980A>T (p.Thr994Ser) c.2704A>T (p.Thr902Ser) n.3279A>T c.2872A>T (p.Thr958Ser) c.2686A>T (p.Thr896Ser) n.3282A>T c.2977A>T (p.Thr993Ser) c.3043A>T (p.Thr1015Ser) c.2995A>T (p.Thr999Ser) c.2860A>T (p.Thr954Ser) c.2896-37A>T (n.2896-37A>T) | |
16 | g.28836087C>A | CA395409275 | ATXN2L | c.3050C>A (p.Thr1017Lys) c.1025C>A (p.Thr342Lys) n.3424C>A c.245C>A (p.Thr82Lys) c.3068C>A (p.Thr1023Lys) c.2114C>A (n.2114C>A) c.319C>A c.1028C>A (p.Thr343Lys) c.3071C>A (p.Thr1024Lys) c.3053C>A (p.Thr1018Lys) c.2891C>A (p.Thr964Lys) c.2999C>A (p.Thr1000Lys) c.2981C>A (p.Thr994Lys) c.2705C>A (p.Thr902Lys) n.3280C>A c.2873C>A (p.Thr958Lys) c.2687C>A (p.Thr896Lys) n.3283C>A c.2978C>A (p.Thr993Lys) c.3044C>A (p.Thr1015Lys) c.2996C>A (p.Thr999Lys) c.2861C>A (p.Thr954Lys) c.2896-36C>A (n.2896-36C>A) | |
16 | g.28836087C>G | CA395409277 | ATXN2L | c.3050C>G (p.Thr1017Arg) c.1025C>G (p.Thr342Arg) n.3424C>G c.245C>G (p.Thr82Arg) c.3068C>G (p.Thr1023Arg) c.2114C>G (n.2114C>G) c.319C>G c.1028C>G (p.Thr343Arg) c.3071C>G (p.Thr1024Arg) c.3053C>G (p.Thr1018Arg) c.2891C>G (p.Thr964Arg) c.2999C>G (p.Thr1000Arg) c.2981C>G (p.Thr994Arg) c.2705C>G (p.Thr902Arg) n.3280C>G c.2873C>G (p.Thr958Arg) c.2687C>G (p.Thr896Arg) n.3283C>G c.2978C>G (p.Thr993Arg) c.3044C>G (p.Thr1015Arg) c.2996C>G (p.Thr999Arg) c.2861C>G (p.Thr954Arg) c.2896-36C>G (n.2896-36C>G) | |
16 | g.28836087C>T | CA395409276 | ATXN2L | c.3050C>T (p.Thr1017Ile) c.1025C>T (p.Thr342Ile) n.3424C>T c.245C>T (p.Thr82Ile) c.3068C>T (p.Thr1023Ile) c.2114C>T (n.2114C>T) c.319C>T c.1028C>T (p.Thr343Ile) c.3071C>T (p.Thr1024Ile) c.3053C>T (p.Thr1018Ile) c.2891C>T (p.Thr964Ile) c.2999C>T (p.Thr1000Ile) c.2981C>T (p.Thr994Ile) c.2705C>T (p.Thr902Ile) n.3280C>T c.2873C>T (p.Thr958Ile) c.2687C>T (p.Thr896Ile) n.3283C>T c.2978C>T (p.Thr993Ile) c.3044C>T (p.Thr1015Ile) c.2996C>T (p.Thr999Ile) c.2861C>T (p.Thr954Ile) c.2896-36C>T (n.2896-36C>T) | |
16 | g.28836088A>C | CA494869437 | ATXN2L | c.3051A>C (p.Thr1017=) c.1026A>C (p.Thr342=) n.3425A>C c.246A>C (p.Thr82=) c.3069A>C (p.Thr1023=) c.2115A>C (n.2115A>C) c.320A>C c.1029A>C (p.Thr343=) c.3072A>C (p.Thr1024=) c.3054A>C (p.Thr1018=) c.2892A>C (p.Thr964=) c.3000A>C (p.Thr1000=) c.2982A>C (p.Thr994=) c.2706A>C (p.Thr902=) n.3281A>C c.2874A>C (p.Thr958=) c.2688A>C (p.Thr896=) n.3284A>C c.2979A>C (p.Thr993=) c.3045A>C (p.Thr1015=) c.2997A>C (p.Thr999=) c.2862A>C (p.Thr954=) c.2896-35A>C (n.2896-35A>C) | |
16 | g.28836088A>G | CA494869441 | ATXN2L | c.3051A>G (p.Thr1017=) c.1026A>G (p.Thr342=) n.3425A>G c.246A>G (p.Thr82=) c.3069A>G (p.Thr1023=) c.2115A>G (n.2115A>G) c.320A>G c.1029A>G (p.Thr343=) c.3072A>G (p.Thr1024=) c.3054A>G (p.Thr1018=) c.2892A>G (p.Thr964=) c.3000A>G (p.Thr1000=) c.2982A>G (p.Thr994=) c.2706A>G (p.Thr902=) n.3281A>G c.2874A>G (p.Thr958=) c.2688A>G (p.Thr896=) n.3284A>G c.2979A>G (p.Thr993=) c.3045A>G (p.Thr1015=) c.2997A>G (p.Thr999=) c.2862A>G (p.Thr954=) c.2896-35A>G (n.2896-35A>G) | |
16 | g.28836088A>T | CA494869439 | ATXN2L | c.3051A>T (p.Thr1017=) c.1026A>T (p.Thr342=) n.3425A>T c.246A>T (p.Thr82=) c.3069A>T (p.Thr1023=) c.2115A>T (n.2115A>T) c.320A>T c.1029A>T (p.Thr343=) c.3072A>T (p.Thr1024=) c.3054A>T (p.Thr1018=) c.2892A>T (p.Thr964=) c.3000A>T (p.Thr1000=) c.2982A>T (p.Thr994=) c.2706A>T (p.Thr902=) n.3281A>T c.2874A>T (p.Thr958=) c.2688A>T (p.Thr896=) n.3284A>T c.2979A>T (p.Thr993=) c.3045A>T (p.Thr1015=) c.2997A>T (p.Thr999=) c.2862A>T (p.Thr954=) c.2896-35A>T (n.2896-35A>T) | |
16 | g.28836089C>A | CA395409278 | ATXN2L | c.3052C>A (p.Pro1018Thr) c.1027C>A (p.Pro343Thr) n.3426C>A c.247C>A (p.Pro83Thr) c.3070C>A (p.Pro1024Thr) c.2116C>A (n.2116C>A) c.321C>A c.1030C>A (p.Pro344Thr) c.3073C>A (p.Pro1025Thr) c.3055C>A (p.Pro1019Thr) c.2893C>A (p.Pro965Thr) c.3001C>A (p.Pro1001Thr) c.2983C>A (p.Pro995Thr) c.2707C>A (p.Pro903Thr) n.3282C>A c.2875C>A (p.Pro959Thr) c.2689C>A (p.Pro897Thr) n.3285C>A c.2980C>A (p.Pro994Thr) c.3046C>A (p.Pro1016Thr) c.2998C>A (p.Pro1000Thr) c.2863C>A (p.Pro955Thr) c.2896-34C>A (n.2896-34C>A) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28836089C= | CA2215806919 | ATXN2L | c.3052C= (p.Pro1018=) c.1027C= (p.Pro343=) n.3426C= c.247C= (p.Pro83=) c.3070C= (p.Pro1024=) c.2116C= (n.2116C=) c.321C= c.1030C= (p.Pro344=) c.3073C= (p.Pro1025=) c.3055C= (p.Pro1019=) c.2893C= (p.Pro965=) c.3001C= (p.Pro1001=) c.2983C= (p.Pro995=) c.2707C= (p.Pro903=) n.3282C= c.2875C= (p.Pro959=) c.2689C= (p.Pro897=) n.3285C= c.2980C= (p.Pro994=) c.3046C= (p.Pro1016=) c.2998C= (p.Pro1000=) c.2863C= (p.Pro955=) c.2896-34C= (n.2896-34C=) | |
16 | g.28836089C>G | CA395409279 | ATXN2L | c.3052C>G (p.Pro1018Ala) c.1027C>G (p.Pro343Ala) n.3426C>G c.247C>G (p.Pro83Ala) c.3070C>G (p.Pro1024Ala) c.2116C>G (n.2116C>G) c.321C>G c.1030C>G (p.Pro344Ala) c.3073C>G (p.Pro1025Ala) c.3055C>G (p.Pro1019Ala) c.2893C>G (p.Pro965Ala) c.3001C>G (p.Pro1001Ala) c.2983C>G (p.Pro995Ala) c.2707C>G (p.Pro903Ala) n.3282C>G c.2875C>G (p.Pro959Ala) c.2689C>G (p.Pro897Ala) n.3285C>G c.2980C>G (p.Pro994Ala) c.3046C>G (p.Pro1016Ala) c.2998C>G (p.Pro1000Ala) c.2863C>G (p.Pro955Ala) c.2896-34C>G (n.2896-34C>G) | |
16 | g.28836089C>T | CA395409280 | ATXN2L | c.3052C>T (p.Pro1018Ser) c.1027C>T (p.Pro343Ser) n.3426C>T c.247C>T (p.Pro83Ser) c.3070C>T (p.Pro1024Ser) c.2116C>T (n.2116C>T) c.321C>T c.1030C>T (p.Pro344Ser) c.3073C>T (p.Pro1025Ser) c.3055C>T (p.Pro1019Ser) c.2893C>T (p.Pro965Ser) c.3001C>T (p.Pro1001Ser) c.2983C>T (p.Pro995Ser) c.2707C>T (p.Pro903Ser) n.3282C>T c.2875C>T (p.Pro959Ser) c.2689C>T (p.Pro897Ser) n.3285C>T c.2980C>T (p.Pro994Ser) c.3046C>T (p.Pro1016Ser) c.2998C>T (p.Pro1000Ser) c.2863C>T (p.Pro955Ser) c.2896-34C>T (n.2896-34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836090C>A | CA395409281 | ATXN2L | c.3053C>A (p.Pro1018His) c.1028C>A (p.Pro343His) n.3427C>A c.248C>A (p.Pro83His) c.3071C>A (p.Pro1024His) c.2117C>A (n.2117C>A) c.322C>A c.1031C>A (p.Pro344His) c.3074C>A (p.Pro1025His) c.3056C>A (p.Pro1019His) c.2894C>A (p.Pro965His) c.3002C>A (p.Pro1001His) c.2984C>A (p.Pro995His) c.2708C>A (p.Pro903His) n.3283C>A c.2876C>A (p.Pro959His) c.2690C>A (p.Pro897His) n.3286C>A c.2981C>A (p.Pro994His) c.3047C>A (p.Pro1016His) c.2999C>A (p.Pro1000His) c.2864C>A (p.Pro955His) c.2896-33C>A (n.2896-33C>A) | |
16 | g.28836090C>G | CA395409282 | ATXN2L | c.3053C>G (p.Pro1018Arg) c.1028C>G (p.Pro343Arg) n.3427C>G c.248C>G (p.Pro83Arg) c.3071C>G (p.Pro1024Arg) c.2117C>G (n.2117C>G) c.322C>G c.1031C>G (p.Pro344Arg) c.3074C>G (p.Pro1025Arg) c.3056C>G (p.Pro1019Arg) c.2894C>G (p.Pro965Arg) c.3002C>G (p.Pro1001Arg) c.2984C>G (p.Pro995Arg) c.2708C>G (p.Pro903Arg) n.3283C>G c.2876C>G (p.Pro959Arg) c.2690C>G (p.Pro897Arg) n.3286C>G c.2981C>G (p.Pro994Arg) c.3047C>G (p.Pro1016Arg) c.2999C>G (p.Pro1000Arg) c.2864C>G (p.Pro955Arg) c.2896-33C>G (n.2896-33C>G) | |
16 | g.28836090C>T | CA395409283 | ATXN2L | c.3053C>T (p.Pro1018Leu) c.1028C>T (p.Pro343Leu) n.3427C>T c.248C>T (p.Pro83Leu) c.3071C>T (p.Pro1024Leu) c.2117C>T (n.2117C>T) c.322C>T c.1031C>T (p.Pro344Leu) c.3074C>T (p.Pro1025Leu) c.3056C>T (p.Pro1019Leu) c.2894C>T (p.Pro965Leu) c.3002C>T (p.Pro1001Leu) c.2984C>T (p.Pro995Leu) c.2708C>T (p.Pro903Leu) n.3283C>T c.2876C>T (p.Pro959Leu) c.2690C>T (p.Pro897Leu) n.3286C>T c.2981C>T (p.Pro994Leu) c.3047C>T (p.Pro1016Leu) c.2999C>T (p.Pro1000Leu) c.2864C>T (p.Pro955Leu) c.2896-33C>T (n.2896-33C>T) | |
16 | g.28836091C>A | CA494869452 | ATXN2L | c.3054C>A (p.Pro1018=) c.1029C>A (p.Pro343=) n.3428C>A c.249C>A (p.Pro83=) c.3072C>A (p.Pro1024=) c.2118C>A (n.2118C>A) c.323C>A c.1032C>A (p.Pro344=) c.3075C>A (p.Pro1025=) c.3057C>A (p.Pro1019=) c.2895C>A (p.Pro965=) c.3003C>A (p.Pro1001=) c.2985C>A (p.Pro995=) c.2709C>A (p.Pro903=) n.3284C>A c.2877C>A (p.Pro959=) c.2691C>A (p.Pro897=) n.3287C>A c.2982C>A (p.Pro994=) c.3048C>A (p.Pro1016=) c.3000C>A (p.Pro1000=) c.2865C>A (p.Pro955=) c.2896-32C>A (n.2896-32C>A) | |
16 | g.28836091C>G | CA494869454 | ATXN2L | c.3054C>G (p.Pro1018=) c.1029C>G (p.Pro343=) n.3428C>G c.249C>G (p.Pro83=) c.3072C>G (p.Pro1024=) c.2118C>G (n.2118C>G) c.323C>G c.1032C>G (p.Pro344=) c.3075C>G (p.Pro1025=) c.3057C>G (p.Pro1019=) c.2895C>G (p.Pro965=) c.3003C>G (p.Pro1001=) c.2985C>G (p.Pro995=) c.2709C>G (p.Pro903=) n.3284C>G c.2877C>G (p.Pro959=) c.2691C>G (p.Pro897=) n.3287C>G c.2982C>G (p.Pro994=) c.3048C>G (p.Pro1016=) c.3000C>G (p.Pro1000=) c.2865C>G (p.Pro955=) c.2896-32C>G (n.2896-32C>G) | gnomAD v4 |
16 | g.28836091C>T | CA494869459 | ATXN2L | c.3054C>T (p.Pro1018=) c.1029C>T (p.Pro343=) n.3428C>T c.249C>T (p.Pro83=) c.3072C>T (p.Pro1024=) c.2118C>T (n.2118C>T) c.323C>T c.1032C>T (p.Pro344=) c.3075C>T (p.Pro1025=) c.3057C>T (p.Pro1019=) c.2895C>T (p.Pro965=) c.3003C>T (p.Pro1001=) c.2985C>T (p.Pro995=) c.2709C>T (p.Pro903=) n.3284C>T c.2877C>T (p.Pro959=) c.2691C>T (p.Pro897=) n.3287C>T c.2982C>T (p.Pro994=) c.3048C>T (p.Pro1016=) c.3000C>T (p.Pro1000=) c.2865C>T (p.Pro955=) c.2896-32C>T (n.2896-32C>T) | |
16 | g.28836092T>A | CA395409844 | ATXN2L | c.3055T>A (p.Ser1019Thr) c.1030T>A (p.Ser344Thr) n.3429T>A c.250T>A (p.Ser84Thr) c.3073T>A (p.Ser1025Thr) c.2119T>A (n.2119T>A) c.324T>A c.1033T>A (p.Ser345Thr) c.3076T>A (p.Ser1026Thr) c.3058T>A (p.Ser1020Thr) c.2896T>A (p.Ser966Thr) c.3004T>A (p.Ser1002Thr) c.2986T>A (p.Ser996Thr) c.2710T>A (p.Ser904Thr) n.3285T>A c.2878T>A (p.Ser960Thr) c.2692T>A (p.Ser898Thr) n.3288T>A c.2983T>A (p.Ser995Thr) c.3049T>A (p.Ser1017Thr) c.3001T>A (p.Ser1001Thr) c.2866T>A (p.Ser956Thr) c.2896-31T>A (n.2896-31T>A) | |
16 | g.28836092T>C | CA395409845 | ATXN2L | c.3055T>C (p.Ser1019Pro) c.1030T>C (p.Ser344Pro) n.3429T>C c.250T>C (p.Ser84Pro) c.3073T>C (p.Ser1025Pro) c.2119T>C (n.2119T>C) c.324T>C c.1033T>C (p.Ser345Pro) c.3076T>C (p.Ser1026Pro) c.3058T>C (p.Ser1020Pro) c.2896T>C (p.Ser966Pro) c.3004T>C (p.Ser1002Pro) c.2986T>C (p.Ser996Pro) c.2710T>C (p.Ser904Pro) n.3285T>C c.2878T>C (p.Ser960Pro) c.2692T>C (p.Ser898Pro) n.3288T>C c.2983T>C (p.Ser995Pro) c.3049T>C (p.Ser1017Pro) c.3001T>C (p.Ser1001Pro) c.2866T>C (p.Ser956Pro) c.2896-31T>C (n.2896-31T>C) | |
16 | g.28836092T>G | CA395409847 | ATXN2L | c.3055T>G (p.Ser1019Ala) c.1030T>G (p.Ser344Ala) n.3429T>G c.250T>G (p.Ser84Ala) c.3073T>G (p.Ser1025Ala) c.2119T>G (n.2119T>G) c.324T>G c.1033T>G (p.Ser345Ala) c.3076T>G (p.Ser1026Ala) c.3058T>G (p.Ser1020Ala) c.2896T>G (p.Ser966Ala) c.3004T>G (p.Ser1002Ala) c.2986T>G (p.Ser996Ala) c.2710T>G (p.Ser904Ala) n.3285T>G c.2878T>G (p.Ser960Ala) c.2692T>G (p.Ser898Ala) n.3288T>G c.2983T>G (p.Ser995Ala) c.3049T>G (p.Ser1017Ala) c.3001T>G (p.Ser1001Ala) c.2866T>G (p.Ser956Ala) c.2896-31T>G (n.2896-31T>G) | |
16 | g.28836093C>A | CA395409850 | ATXN2L | c.3056C>A (p.Ser1019Ter) c.1031C>A (p.Ser344Ter) n.3430C>A c.251C>A (p.Ser84Ter) c.3074C>A (p.Ser1025Ter) c.2120C>A (n.2120C>A) c.325C>A c.1034C>A (p.Ser345Ter) c.3077C>A (p.Ser1026Ter) c.3059C>A (p.Ser1020Ter) c.2897C>A (p.Ser966Ter) c.3005C>A (p.Ser1002Ter) c.2987C>A (p.Ser996Ter) c.2711C>A (p.Ser904Ter) n.3286C>A c.2879C>A (p.Ser960Ter) c.2693C>A (p.Ser898Ter) n.3289C>A c.2984C>A (p.Ser995Ter) c.3050C>A (p.Ser1017Ter) c.3002C>A (p.Ser1001Ter) c.2867C>A (p.Ser956Ter) c.2896-30C>A (n.2896-30C>A) | |
16 | g.28836093C>G | CA395409852 | ATXN2L | c.3056C>G (p.Ser1019Ter) c.1031C>G (p.Ser344Ter) n.3430C>G c.251C>G (p.Ser84Ter) c.3074C>G (p.Ser1025Ter) c.2120C>G (n.2120C>G) c.325C>G c.1034C>G (p.Ser345Ter) c.3077C>G (p.Ser1026Ter) c.3059C>G (p.Ser1020Ter) c.2897C>G (p.Ser966Ter) c.3005C>G (p.Ser1002Ter) c.2987C>G (p.Ser996Ter) c.2711C>G (p.Ser904Ter) n.3286C>G c.2879C>G (p.Ser960Ter) c.2693C>G (p.Ser898Ter) n.3289C>G c.2984C>G (p.Ser995Ter) c.3050C>G (p.Ser1017Ter) c.3002C>G (p.Ser1001Ter) c.2867C>G (p.Ser956Ter) c.2896-30C>G (n.2896-30C>G) | |
16 | g.28836093C>T | CA395409854 | ATXN2L | c.3056C>T (p.Ser1019Leu) c.1031C>T (p.Ser344Leu) n.3430C>T c.251C>T (p.Ser84Leu) c.3074C>T (p.Ser1025Leu) c.2120C>T (n.2120C>T) c.325C>T c.1034C>T (p.Ser345Leu) c.3077C>T (p.Ser1026Leu) c.3059C>T (p.Ser1020Leu) c.2897C>T (p.Ser966Leu) c.3005C>T (p.Ser1002Leu) c.2987C>T (p.Ser996Leu) c.2711C>T (p.Ser904Leu) n.3286C>T c.2879C>T (p.Ser960Leu) c.2693C>T (p.Ser898Leu) n.3289C>T c.2984C>T (p.Ser995Leu) c.3050C>T (p.Ser1017Leu) c.3002C>T (p.Ser1001Leu) c.2867C>T (p.Ser956Leu) c.2896-30C>T (n.2896-30C>T) | gnomAD v4 COSMIC COSMIC |
16 | g.28836094A>C | CA494868418 | ATXN2L | c.3057A>C (p.Ser1019=) c.1032A>C (p.Ser344=) n.3431A>C c.252A>C (p.Ser84=) c.3075A>C (p.Ser1025=) c.2121A>C (n.2121A>C) c.326A>C c.1035A>C (p.Ser345=) c.3078A>C (p.Ser1026=) c.3060A>C (p.Ser1020=) c.2898A>C (p.Ser966=) c.3006A>C (p.Ser1002=) c.2988A>C (p.Ser996=) c.2712A>C (p.Ser904=) n.3287A>C c.2880A>C (p.Ser960=) c.2694A>C (p.Ser898=) n.3290A>C c.2985A>C (p.Ser995=) c.3051A>C (p.Ser1017=) c.3003A>C (p.Ser1001=) c.2868A>C (p.Ser956=) c.2896-29A>C (n.2896-29A>C) | |
16 | g.28836094A>G | CA494868423 | ATXN2L | c.3057A>G (p.Ser1019=) c.1032A>G (p.Ser344=) n.3431A>G c.252A>G (p.Ser84=) c.3075A>G (p.Ser1025=) c.2121A>G (n.2121A>G) c.326A>G c.1035A>G (p.Ser345=) c.3078A>G (p.Ser1026=) c.3060A>G (p.Ser1020=) c.2898A>G (p.Ser966=) c.3006A>G (p.Ser1002=) c.2988A>G (p.Ser996=) c.2712A>G (p.Ser904=) n.3287A>G c.2880A>G (p.Ser960=) c.2694A>G (p.Ser898=) n.3290A>G c.2985A>G (p.Ser995=) c.3051A>G (p.Ser1017=) c.3003A>G (p.Ser1001=) c.2868A>G (p.Ser956=) c.2896-29A>G (n.2896-29A>G) | |
16 | g.28836094A>T | CA494868426 | ATXN2L | c.3057A>T (p.Ser1019=) c.1032A>T (p.Ser344=) n.3431A>T c.252A>T (p.Ser84=) c.3075A>T (p.Ser1025=) c.2121A>T (n.2121A>T) c.326A>T c.1035A>T (p.Ser345=) c.3078A>T (p.Ser1026=) c.3060A>T (p.Ser1020=) c.2898A>T (p.Ser966=) c.3006A>T (p.Ser1002=) c.2988A>T (p.Ser996=) c.2712A>T (p.Ser904=) n.3287A>T c.2880A>T (p.Ser960=) c.2694A>T (p.Ser898=) n.3290A>T c.2985A>T (p.Ser995=) c.3051A>T (p.Ser1017=) c.3003A>T (p.Ser1001=) c.2868A>T (p.Ser956=) c.2896-29A>T (n.2896-29A>T) | |
16 | g.28836095C>A | CA7985168 | ATXN2L | c.3058C>A (p.Pro1020Thr) c.1033C>A (p.Pro345Thr) n.3432C>A c.253C>A (p.Pro85Thr) c.3076C>A (p.Pro1026Thr) c.2122C>A (n.2122C>A) c.327C>A c.1036C>A (p.Pro346Thr) c.3079C>A (p.Pro1027Thr) c.3061C>A (p.Pro1021Thr) c.2899C>A (p.Pro967Thr) c.3007C>A (p.Pro1003Thr) c.2989C>A (p.Pro997Thr) c.2713C>A (p.Pro905Thr) n.3288C>A c.2881C>A (p.Pro961Thr) c.2695C>A (p.Pro899Thr) n.3291C>A c.2986C>A (p.Pro996Thr) c.3052C>A (p.Pro1018Thr) c.3004C>A (p.Pro1002Thr) c.2869C>A (p.Pro957Thr) c.2896-28C>A (n.2896-28C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836095C= | CA2215806921 | ATXN2L | c.3058C= (p.Pro1020=) c.1033C= (p.Pro345=) n.3432C= c.253C= (p.Pro85=) c.3076C= (p.Pro1026=) c.2122C= (n.2122C=) c.327C= c.1036C= (p.Pro346=) c.3079C= (p.Pro1027=) c.3061C= (p.Pro1021=) c.2899C= (p.Pro967=) c.3007C= (p.Pro1003=) c.2989C= (p.Pro997=) c.2713C= (p.Pro905=) n.3288C= c.2881C= (p.Pro961=) c.2695C= (p.Pro899=) n.3291C= c.2986C= (p.Pro996=) c.3052C= (p.Pro1018=) c.3004C= (p.Pro1002=) c.2869C= (p.Pro957=) c.2896-28C= (n.2896-28C=) | |
16 | g.28836095C>G | CA395409860 | ATXN2L | c.3058C>G (p.Pro1020Ala) c.1033C>G (p.Pro345Ala) n.3432C>G c.253C>G (p.Pro85Ala) c.3076C>G (p.Pro1026Ala) c.2122C>G (n.2122C>G) c.327C>G c.1036C>G (p.Pro346Ala) c.3079C>G (p.Pro1027Ala) c.3061C>G (p.Pro1021Ala) c.2899C>G (p.Pro967Ala) c.3007C>G (p.Pro1003Ala) c.2989C>G (p.Pro997Ala) c.2713C>G (p.Pro905Ala) n.3288C>G c.2881C>G (p.Pro961Ala) c.2695C>G (p.Pro899Ala) n.3291C>G c.2986C>G (p.Pro996Ala) c.3052C>G (p.Pro1018Ala) c.3004C>G (p.Pro1002Ala) c.2869C>G (p.Pro957Ala) c.2896-28C>G (n.2896-28C>G) | |
16 | g.28836095C>T | CA395409857 | ATXN2L | c.3058C>T (p.Pro1020Ser) c.1033C>T (p.Pro345Ser) n.3432C>T c.253C>T (p.Pro85Ser) c.3076C>T (p.Pro1026Ser) c.2122C>T (n.2122C>T) c.327C>T c.1036C>T (p.Pro346Ser) c.3079C>T (p.Pro1027Ser) c.3061C>T (p.Pro1021Ser) c.2899C>T (p.Pro967Ser) c.3007C>T (p.Pro1003Ser) c.2989C>T (p.Pro997Ser) c.2713C>T (p.Pro905Ser) n.3288C>T c.2881C>T (p.Pro961Ser) c.2695C>T (p.Pro899Ser) n.3291C>T c.2986C>T (p.Pro996Ser) c.3052C>T (p.Pro1018Ser) c.3004C>T (p.Pro1002Ser) c.2869C>T (p.Pro957Ser) c.2896-28C>T (n.2896-28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28836096C>A | CA395409862 | ATXN2L | c.3059C>A (p.Pro1020His) c.1034C>A (p.Pro345His) n.3433C>A c.254C>A (p.Pro85His) c.3077C>A (p.Pro1026His) c.2123C>A (n.2123C>A) c.328C>A c.1037C>A (p.Pro346His) c.3080C>A (p.Pro1027His) c.3062C>A (p.Pro1021His) c.2900C>A (p.Pro967His) c.3008C>A (p.Pro1003His) c.2990C>A (p.Pro997His) c.2714C>A (p.Pro905His) n.3289C>A c.2882C>A (p.Pro961His) c.2696C>A (p.Pro899His) n.3292C>A c.2987C>A (p.Pro996His) c.3053C>A (p.Pro1018His) c.3005C>A (p.Pro1002His) c.2870C>A (p.Pro957His) c.2896-27C>A (n.2896-27C>A) | gnomAD v4 |
16 | g.28836096C= | CA2215806924 | ATXN2L | c.3059C= (p.Pro1020=) c.1034C= (p.Pro345=) n.3433C= c.254C= (p.Pro85=) c.3077C= (p.Pro1026=) c.2123C= (n.2123C=) c.328C= c.1037C= (p.Pro346=) c.3080C= (p.Pro1027=) c.3062C= (p.Pro1021=) c.2900C= (p.Pro967=) c.3008C= (p.Pro1003=) c.2990C= (p.Pro997=) c.2714C= (p.Pro905=) n.3289C= c.2882C= (p.Pro961=) c.2696C= (p.Pro899=) n.3292C= c.2987C= (p.Pro996=) c.3053C= (p.Pro1018=) c.3005C= (p.Pro1002=) c.2870C= (p.Pro957=) c.2896-27C= (n.2896-27C=) | |
16 | g.28836096C>G | CA395409864 | ATXN2L | c.3059C>G (p.Pro1020Arg) c.1034C>G (p.Pro345Arg) n.3433C>G c.254C>G (p.Pro85Arg) c.3077C>G (p.Pro1026Arg) c.2123C>G (n.2123C>G) c.328C>G c.1037C>G (p.Pro346Arg) c.3080C>G (p.Pro1027Arg) c.3062C>G (p.Pro1021Arg) c.2900C>G (p.Pro967Arg) c.3008C>G (p.Pro1003Arg) c.2990C>G (p.Pro997Arg) c.2714C>G (p.Pro905Arg) n.3289C>G c.2882C>G (p.Pro961Arg) c.2696C>G (p.Pro899Arg) n.3292C>G c.2987C>G (p.Pro996Arg) c.3053C>G (p.Pro1018Arg) c.3005C>G (p.Pro1002Arg) c.2870C>G (p.Pro957Arg) c.2896-27C>G (n.2896-27C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836096C>T | CA395409865 | ATXN2L | c.3059C>T (p.Pro1020Leu) c.1034C>T (p.Pro345Leu) n.3433C>T c.254C>T (p.Pro85Leu) c.3077C>T (p.Pro1026Leu) c.2123C>T (n.2123C>T) c.328C>T c.1037C>T (p.Pro346Leu) c.3080C>T (p.Pro1027Leu) c.3062C>T (p.Pro1021Leu) c.2900C>T (p.Pro967Leu) c.3008C>T (p.Pro1003Leu) c.2990C>T (p.Pro997Leu) c.2714C>T (p.Pro905Leu) n.3289C>T c.2882C>T (p.Pro961Leu) c.2696C>T (p.Pro899Leu) n.3292C>T c.2987C>T (p.Pro996Leu) c.3053C>T (p.Pro1018Leu) c.3005C>T (p.Pro1002Leu) c.2870C>T (p.Pro957Leu) c.2896-27C>T (n.2896-27C>T) | dbSNP gnomAD v2 |
16 | g.28836097C>A | CA494868442 | ATXN2L | c.3060C>A (p.Pro1020=) c.1035C>A (p.Pro345=) n.3434C>A c.255C>A (p.Pro85=) c.3078C>A (p.Pro1026=) c.2124C>A (n.2124C>A) c.329C>A c.1038C>A (p.Pro346=) c.3081C>A (p.Pro1027=) c.3063C>A (p.Pro1021=) c.2901C>A (p.Pro967=) c.3009C>A (p.Pro1003=) c.2991C>A (p.Pro997=) c.2715C>A (p.Pro905=) n.3290C>A c.2883C>A (p.Pro961=) c.2697C>A (p.Pro899=) n.3293C>A c.2988C>A (p.Pro996=) c.3054C>A (p.Pro1018=) c.3006C>A (p.Pro1002=) c.2871C>A (p.Pro957=) c.2896-26C>A (n.2896-26C>A) | |
16 | g.28836097C= | CA2215806926 | ATXN2L | c.3060C= (p.Pro1020=) c.1035C= (p.Pro345=) n.3434C= c.255C= (p.Pro85=) c.3078C= (p.Pro1026=) c.2124C= (n.2124C=) c.329C= c.1038C= (p.Pro346=) c.3081C= (p.Pro1027=) c.3063C= (p.Pro1021=) c.2901C= (p.Pro967=) c.3009C= (p.Pro1003=) c.2991C= (p.Pro997=) c.2715C= (p.Pro905=) n.3290C= c.2883C= (p.Pro961=) c.2697C= (p.Pro899=) n.3293C= c.2988C= (p.Pro996=) c.3054C= (p.Pro1018=) c.3006C= (p.Pro1002=) c.2871C= (p.Pro957=) c.2896-26C= (n.2896-26C=) | |
16 | g.28836097C>G | CA494868444 | ATXN2L | c.3060C>G (p.Pro1020=) c.1035C>G (p.Pro345=) n.3434C>G c.255C>G (p.Pro85=) c.3078C>G (p.Pro1026=) c.2124C>G (n.2124C>G) c.329C>G c.1038C>G (p.Pro346=) c.3081C>G (p.Pro1027=) c.3063C>G (p.Pro1021=) c.2901C>G (p.Pro967=) c.3009C>G (p.Pro1003=) c.2991C>G (p.Pro997=) c.2715C>G (p.Pro905=) n.3290C>G c.2883C>G (p.Pro961=) c.2697C>G (p.Pro899=) n.3293C>G c.2988C>G (p.Pro996=) c.3054C>G (p.Pro1018=) c.3006C>G (p.Pro1002=) c.2871C>G (p.Pro957=) c.2896-26C>G (n.2896-26C>G) | |
16 | g.28836097C>T | CA494868446 | ATXN2L | c.3060C>T (p.Pro1020=) c.1035C>T (p.Pro345=) n.3434C>T c.255C>T (p.Pro85=) c.3078C>T (p.Pro1026=) c.2124C>T (n.2124C>T) c.329C>T c.1038C>T (p.Pro346=) c.3081C>T (p.Pro1027=) c.3063C>T (p.Pro1021=) c.2901C>T (p.Pro967=) c.3009C>T (p.Pro1003=) c.2991C>T (p.Pro997=) c.2715C>T (p.Pro905=) n.3290C>T c.2883C>T (p.Pro961=) c.2697C>T (p.Pro899=) n.3293C>T c.2988C>T (p.Pro996=) c.3054C>T (p.Pro1018=) c.3006C>T (p.Pro1002=) c.2871C>T (p.Pro957=) c.2896-26C>T (n.2896-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836098T>A | CA395409867 | ATXN2L | c.3061T>A (p.Tyr1021Asn) c.1036T>A (p.Tyr346Asn) n.3435T>A c.256T>A (p.Tyr86Asn) c.3079T>A (p.Tyr1027Asn) c.2125T>A (n.2125T>A) c.330T>A c.1039T>A (p.Tyr347Asn) c.3082T>A (p.Tyr1028Asn) c.3064T>A (p.Tyr1022Asn) c.2902T>A (p.Tyr968Asn) c.3010T>A (p.Tyr1004Asn) c.2992T>A (p.Tyr998Asn) c.2716T>A (p.Tyr906Asn) n.3291T>A c.2884T>A (p.Tyr962Asn) c.2698T>A (p.Tyr900Asn) n.3294T>A c.2989T>A (p.Tyr997Asn) c.3055T>A (p.Tyr1019Asn) c.3007T>A (p.Tyr1003Asn) c.2872T>A (p.Tyr958Asn) c.2896-25T>A (n.2896-25T>A) | |
16 | g.28836098T>C | CA395409869 | ATXN2L | c.3061T>C (p.Tyr1021His) c.1036T>C (p.Tyr346His) n.3435T>C c.256T>C (p.Tyr86His) c.3079T>C (p.Tyr1027His) c.2125T>C (n.2125T>C) c.330T>C c.1039T>C (p.Tyr347His) c.3082T>C (p.Tyr1028His) c.3064T>C (p.Tyr1022His) c.2902T>C (p.Tyr968His) c.3010T>C (p.Tyr1004His) c.2992T>C (p.Tyr998His) c.2716T>C (p.Tyr906His) n.3291T>C c.2884T>C (p.Tyr962His) c.2698T>C (p.Tyr900His) n.3294T>C c.2989T>C (p.Tyr997His) c.3055T>C (p.Tyr1019His) c.3007T>C (p.Tyr1003His) c.2872T>C (p.Tyr958His) c.2896-25T>C (n.2896-25T>C) | |
16 | g.28836098T>G | CA395409871 | ATXN2L | c.3061T>G (p.Tyr1021Asp) c.1036T>G (p.Tyr346Asp) n.3435T>G c.256T>G (p.Tyr86Asp) c.3079T>G (p.Tyr1027Asp) c.2125T>G (n.2125T>G) c.330T>G c.1039T>G (p.Tyr347Asp) c.3082T>G (p.Tyr1028Asp) c.3064T>G (p.Tyr1022Asp) c.2902T>G (p.Tyr968Asp) c.3010T>G (p.Tyr1004Asp) c.2992T>G (p.Tyr998Asp) c.2716T>G (p.Tyr906Asp) n.3291T>G c.2884T>G (p.Tyr962Asp) c.2698T>G (p.Tyr900Asp) n.3294T>G c.2989T>G (p.Tyr997Asp) c.3055T>G (p.Tyr1019Asp) c.3007T>G (p.Tyr1003Asp) c.2872T>G (p.Tyr958Asp) c.2896-25T>G (n.2896-25T>G) | |
16 | g.28836099A= | CA2215806932 | ATXN2L | c.3062A= (p.Tyr1021=) c.1037A= (p.Tyr346=) n.3436A= c.257A= (p.Tyr86=) c.3080A= (p.Tyr1027=) c.2126A= (n.2126A=) c.331A= c.1040A= (p.Tyr347=) c.3083A= (p.Tyr1028=) c.3065A= (p.Tyr1022=) c.2903A= (p.Tyr968=) c.3011A= (p.Tyr1004=) c.2993A= (p.Tyr998=) c.2717A= (p.Tyr906=) n.3292A= c.2885A= (p.Tyr962=) c.2699A= (p.Tyr900=) n.3295A= c.2990A= (p.Tyr997=) c.3056A= (p.Tyr1019=) c.3008A= (p.Tyr1003=) c.2873A= (p.Tyr958=) c.2896-24A= (n.2896-24A=) | |
16 | g.28836099A>C | CA395409876 | ATXN2L | c.3062A>C (p.Tyr1021Ser) c.1037A>C (p.Tyr346Ser) n.3436A>C c.257A>C (p.Tyr86Ser) c.3080A>C (p.Tyr1027Ser) c.2126A>C (n.2126A>C) c.331A>C c.1040A>C (p.Tyr347Ser) c.3083A>C (p.Tyr1028Ser) c.3065A>C (p.Tyr1022Ser) c.2903A>C (p.Tyr968Ser) c.3011A>C (p.Tyr1004Ser) c.2993A>C (p.Tyr998Ser) c.2717A>C (p.Tyr906Ser) n.3292A>C c.2885A>C (p.Tyr962Ser) c.2699A>C (p.Tyr900Ser) n.3295A>C c.2990A>C (p.Tyr997Ser) c.3056A>C (p.Tyr1019Ser) c.3008A>C (p.Tyr1003Ser) c.2873A>C (p.Tyr958Ser) c.2896-24A>C (n.2896-24A>C) | |
16 | g.28836099A>G | CA279232139 | ATXN2L | c.3062A>G (p.Tyr1021Cys) c.1037A>G (p.Tyr346Cys) n.3436A>G c.257A>G (p.Tyr86Cys) c.3080A>G (p.Tyr1027Cys) c.2126A>G (n.2126A>G) c.331A>G c.1040A>G (p.Tyr347Cys) c.3083A>G (p.Tyr1028Cys) c.3065A>G (p.Tyr1022Cys) c.2903A>G (p.Tyr968Cys) c.3011A>G (p.Tyr1004Cys) c.2993A>G (p.Tyr998Cys) c.2717A>G (p.Tyr906Cys) n.3292A>G c.2885A>G (p.Tyr962Cys) c.2699A>G (p.Tyr900Cys) n.3295A>G c.2990A>G (p.Tyr997Cys) c.3056A>G (p.Tyr1019Cys) c.3008A>G (p.Tyr1003Cys) c.2873A>G (p.Tyr958Cys) c.2896-24A>G (n.2896-24A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28836099A>T | CA395409875 | ATXN2L | c.3062A>T (p.Tyr1021Phe) c.1037A>T (p.Tyr346Phe) n.3436A>T c.257A>T (p.Tyr86Phe) c.3080A>T (p.Tyr1027Phe) c.2126A>T (n.2126A>T) c.331A>T c.1040A>T (p.Tyr347Phe) c.3083A>T (p.Tyr1028Phe) c.3065A>T (p.Tyr1022Phe) c.2903A>T (p.Tyr968Phe) c.3011A>T (p.Tyr1004Phe) c.2993A>T (p.Tyr998Phe) c.2717A>T (p.Tyr906Phe) n.3292A>T c.2885A>T (p.Tyr962Phe) c.2699A>T (p.Tyr900Phe) n.3295A>T c.2990A>T (p.Tyr997Phe) c.3056A>T (p.Tyr1019Phe) c.3008A>T (p.Tyr1003Phe) c.2873A>T (p.Tyr958Phe) c.2896-24A>T (n.2896-24A>T) | dbSNP gnomAD v2 |
16 | g.28836100C>A | CA395409878 | ATXN2L | c.3063C>A (p.Tyr1021Ter) c.1038C>A (p.Tyr346Ter) n.3437C>A c.258C>A (p.Tyr86Ter) c.3081C>A (p.Tyr1027Ter) c.2127C>A (n.2127C>A) c.332C>A c.1041C>A (p.Tyr347Ter) c.3084C>A (p.Tyr1028Ter) c.3066C>A (p.Tyr1022Ter) c.2904C>A (p.Tyr968Ter) c.3012C>A (p.Tyr1004Ter) c.2994C>A (p.Tyr998Ter) c.2718C>A (p.Tyr906Ter) n.3293C>A c.2886C>A (p.Tyr962Ter) c.2700C>A (p.Tyr900Ter) n.3296C>A c.2991C>A (p.Tyr997Ter) c.3057C>A (p.Tyr1019Ter) c.3009C>A (p.Tyr1003Ter) c.2874C>A (p.Tyr958Ter) c.2896-23C>A (n.2896-23C>A) | |
16 | g.28836100C= | CA2215806937 | ATXN2L | c.3063C= (p.Tyr1021=) c.1038C= (p.Tyr346=) n.3437C= c.258C= (p.Tyr86=) c.3081C= (p.Tyr1027=) c.2127C= (n.2127C=) c.332C= c.1041C= (p.Tyr347=) c.3084C= (p.Tyr1028=) c.3066C= (p.Tyr1022=) c.2904C= (p.Tyr968=) c.3012C= (p.Tyr1004=) c.2994C= (p.Tyr998=) c.2718C= (p.Tyr906=) n.3293C= c.2886C= (p.Tyr962=) c.2700C= (p.Tyr900=) n.3296C= c.2991C= (p.Tyr997=) c.3057C= (p.Tyr1019=) c.3009C= (p.Tyr1003=) c.2874C= (p.Tyr958=) c.2896-23C= (n.2896-23C=) | |
16 | g.28836100C>G | CA395409879 | ATXN2L | c.3063C>G (p.Tyr1021Ter) c.1038C>G (p.Tyr346Ter) n.3437C>G c.258C>G (p.Tyr86Ter) c.3081C>G (p.Tyr1027Ter) c.2127C>G (n.2127C>G) c.332C>G c.1041C>G (p.Tyr347Ter) c.3084C>G (p.Tyr1028Ter) c.3066C>G (p.Tyr1022Ter) c.2904C>G (p.Tyr968Ter) c.3012C>G (p.Tyr1004Ter) c.2994C>G (p.Tyr998Ter) c.2718C>G (p.Tyr906Ter) n.3293C>G c.2886C>G (p.Tyr962Ter) c.2700C>G (p.Tyr900Ter) n.3296C>G c.2991C>G (p.Tyr997Ter) c.3057C>G (p.Tyr1019Ter) c.3009C>G (p.Tyr1003Ter) c.2874C>G (p.Tyr958Ter) c.2896-23C>G (n.2896-23C>G) | |
16 | g.28836100C>T | CA494868460 | ATXN2L | c.3063C>T (p.Tyr1021=) c.1038C>T (p.Tyr346=) n.3437C>T c.258C>T (p.Tyr86=) c.3081C>T (p.Tyr1027=) c.2127C>T (n.2127C>T) c.332C>T c.1041C>T (p.Tyr347=) c.3084C>T (p.Tyr1028=) c.3066C>T (p.Tyr1022=) c.2904C>T (p.Tyr968=) c.3012C>T (p.Tyr1004=) c.2994C>T (p.Tyr998=) c.2718C>T (p.Tyr906=) n.3293C>T c.2886C>T (p.Tyr962=) c.2700C>T (p.Tyr900=) n.3296C>T c.2991C>T (p.Tyr997=) c.3057C>T (p.Tyr1019=) c.3009C>T (p.Tyr1003=) c.2874C>T (p.Tyr958=) c.2896-23C>T (n.2896-23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836101C>A | CA395409881 | ATXN2L | c.3064C>A (p.Pro1022Thr) c.1039C>A (p.Pro347Thr) n.3438C>A c.259C>A (p.Pro87Thr) c.3082C>A (p.Pro1028Thr) c.2128C>A (n.2128C>A) c.333C>A c.1042C>A (p.Pro348Thr) c.3085C>A (p.Pro1029Thr) c.3067C>A (p.Pro1023Thr) c.2905C>A (p.Pro969Thr) c.3013C>A (p.Pro1005Thr) c.2995C>A (p.Pro999Thr) c.2719C>A (p.Pro907Thr) n.3294C>A c.2887C>A (p.Pro963Thr) c.2701C>A (p.Pro901Thr) n.3297C>A c.2992C>A (p.Pro998Thr) c.3058C>A (p.Pro1020Thr) c.3010C>A (p.Pro1004Thr) c.2875C>A (p.Pro959Thr) c.2896-22C>A (n.2896-22C>A) | |
16 | g.28836101C= | CA2215806941 | ATXN2L | c.3064C= (p.Pro1022=) c.1039C= (p.Pro347=) n.3438C= c.259C= (p.Pro87=) c.3082C= (p.Pro1028=) c.2128C= (n.2128C=) c.333C= c.1042C= (p.Pro348=) c.3085C= (p.Pro1029=) c.3067C= (p.Pro1023=) c.2905C= (p.Pro969=) c.3013C= (p.Pro1005=) c.2995C= (p.Pro999=) c.2719C= (p.Pro907=) n.3294C= c.2887C= (p.Pro963=) c.2701C= (p.Pro901=) n.3297C= c.2992C= (p.Pro998=) c.3058C= (p.Pro1020=) c.3010C= (p.Pro1004=) c.2875C= (p.Pro959=) c.2896-22C= (n.2896-22C=) | |
16 | g.28836101C>G | CA395409883 | ATXN2L | c.3064C>G (p.Pro1022Ala) c.1039C>G (p.Pro347Ala) n.3438C>G c.259C>G (p.Pro87Ala) c.3082C>G (p.Pro1028Ala) c.2128C>G (n.2128C>G) c.333C>G c.1042C>G (p.Pro348Ala) c.3085C>G (p.Pro1029Ala) c.3067C>G (p.Pro1023Ala) c.2905C>G (p.Pro969Ala) c.3013C>G (p.Pro1005Ala) c.2995C>G (p.Pro999Ala) c.2719C>G (p.Pro907Ala) n.3294C>G c.2887C>G (p.Pro963Ala) c.2701C>G (p.Pro901Ala) n.3297C>G c.2992C>G (p.Pro998Ala) c.3058C>G (p.Pro1020Ala) c.3010C>G (p.Pro1004Ala) c.2875C>G (p.Pro959Ala) c.2896-22C>G (n.2896-22C>G) | |
16 | g.28836101C>T | CA7985169 | ATXN2L | c.3064C>T (p.Pro1022Ser) c.1039C>T (p.Pro347Ser) n.3438C>T c.259C>T (p.Pro87Ser) c.3082C>T (p.Pro1028Ser) c.2128C>T (n.2128C>T) c.333C>T c.1042C>T (p.Pro348Ser) c.3085C>T (p.Pro1029Ser) c.3067C>T (p.Pro1023Ser) c.2905C>T (p.Pro969Ser) c.3013C>T (p.Pro1005Ser) c.2995C>T (p.Pro999Ser) c.2719C>T (p.Pro907Ser) n.3294C>T c.2887C>T (p.Pro963Ser) c.2701C>T (p.Pro901Ser) n.3297C>T c.2992C>T (p.Pro998Ser) c.3058C>T (p.Pro1020Ser) c.3010C>T (p.Pro1004Ser) c.2875C>T (p.Pro959Ser) c.2896-22C>T (n.2896-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836102C>A | CA395409886 | ATXN2L | c.3065C>A (p.Pro1022His) c.1040C>A (p.Pro347His) n.3439C>A c.260C>A (p.Pro87His) c.3083C>A (p.Pro1028His) c.2129C>A (n.2129C>A) c.334C>A c.1043C>A (p.Pro348His) c.3086C>A (p.Pro1029His) c.3068C>A (p.Pro1023His) c.2906C>A (p.Pro969His) c.3014C>A (p.Pro1005His) c.2996C>A (p.Pro999His) c.2720C>A (p.Pro907His) n.3295C>A c.2888C>A (p.Pro963His) c.2702C>A (p.Pro901His) n.3298C>A c.2993C>A (p.Pro998His) c.3059C>A (p.Pro1020His) c.3011C>A (p.Pro1004His) c.2876C>A (p.Pro959His) c.2896-21C>A (n.2896-21C>A) | |
16 | g.28836102C>G | CA395409890 | ATXN2L | c.3065C>G (p.Pro1022Arg) c.1040C>G (p.Pro347Arg) n.3439C>G c.260C>G (p.Pro87Arg) c.3083C>G (p.Pro1028Arg) c.2129C>G (n.2129C>G) c.334C>G c.1043C>G (p.Pro348Arg) c.3086C>G (p.Pro1029Arg) c.3068C>G (p.Pro1023Arg) c.2906C>G (p.Pro969Arg) c.3014C>G (p.Pro1005Arg) c.2996C>G (p.Pro999Arg) c.2720C>G (p.Pro907Arg) n.3295C>G c.2888C>G (p.Pro963Arg) c.2702C>G (p.Pro901Arg) n.3298C>G c.2993C>G (p.Pro998Arg) c.3059C>G (p.Pro1020Arg) c.3011C>G (p.Pro1004Arg) c.2876C>G (p.Pro959Arg) c.2896-21C>G (n.2896-21C>G) | |
16 | g.28836102C>T | CA395409889 | ATXN2L | c.3065C>T (p.Pro1022Leu) c.1040C>T (p.Pro347Leu) n.3439C>T c.260C>T (p.Pro87Leu) c.3083C>T (p.Pro1028Leu) c.2129C>T (n.2129C>T) c.334C>T c.1043C>T (p.Pro348Leu) c.3086C>T (p.Pro1029Leu) c.3068C>T (p.Pro1023Leu) c.2906C>T (p.Pro969Leu) c.3014C>T (p.Pro1005Leu) c.2996C>T (p.Pro999Leu) c.2720C>T (p.Pro907Leu) n.3295C>T c.2888C>T (p.Pro963Leu) c.2702C>T (p.Pro901Leu) n.3298C>T c.2993C>T (p.Pro998Leu) c.3059C>T (p.Pro1020Leu) c.3011C>T (p.Pro1004Leu) c.2876C>T (p.Pro959Leu) c.2896-21C>T (n.2896-21C>T) | gnomAD v4 |
16 | g.28836103C>A | CA279232140 | ATXN2L | c.3066C>A (p.Pro1022=) c.1041C>A (p.Pro347=) n.3440C>A c.261C>A (p.Pro87=) c.3084C>A (p.Pro1028=) c.2130C>A (n.2130C>A) c.335C>A c.1044C>A (p.Pro348=) c.3087C>A (p.Pro1029=) c.3069C>A (p.Pro1023=) c.2907C>A (p.Pro969=) c.3015C>A (p.Pro1005=) c.2997C>A (p.Pro999=) c.2721C>A (p.Pro907=) n.3296C>A c.2889C>A (p.Pro963=) c.2703C>A (p.Pro901=) n.3299C>A c.2994C>A (p.Pro998=) c.3060C>A (p.Pro1020=) c.3012C>A (p.Pro1004=) c.2877C>A (p.Pro959=) c.2896-20C>A (n.2896-20C>A) | dbSNP |
16 | g.28836103C= | CA2215806943 | ATXN2L | c.3066C= (p.Pro1022=) c.1041C= (p.Pro347=) n.3440C= c.261C= (p.Pro87=) c.3084C= (p.Pro1028=) c.2130C= (n.2130C=) c.335C= c.1044C= (p.Pro348=) c.3087C= (p.Pro1029=) c.3069C= (p.Pro1023=) c.2907C= (p.Pro969=) c.3015C= (p.Pro1005=) c.2997C= (p.Pro999=) c.2721C= (p.Pro907=) n.3296C= c.2889C= (p.Pro963=) c.2703C= (p.Pro901=) n.3299C= c.2994C= (p.Pro998=) c.3060C= (p.Pro1020=) c.3012C= (p.Pro1004=) c.2877C= (p.Pro959=) c.2896-20C= (n.2896-20C=) | |
16 | g.28836103C>G | CA494868489 | ATXN2L | c.3066C>G (p.Pro1022=) c.1041C>G (p.Pro347=) n.3440C>G c.261C>G (p.Pro87=) c.3084C>G (p.Pro1028=) c.2130C>G (n.2130C>G) c.335C>G c.1044C>G (p.Pro348=) c.3087C>G (p.Pro1029=) c.3069C>G (p.Pro1023=) c.2907C>G (p.Pro969=) c.3015C>G (p.Pro1005=) c.2997C>G (p.Pro999=) c.2721C>G (p.Pro907=) n.3296C>G c.2889C>G (p.Pro963=) c.2703C>G (p.Pro901=) n.3299C>G c.2994C>G (p.Pro998=) c.3060C>G (p.Pro1020=) c.3012C>G (p.Pro1004=) c.2877C>G (p.Pro959=) c.2896-20C>G (n.2896-20C>G) | |
16 | g.28836103C>T | CA7985170 | ATXN2L | c.3066C>T (p.Pro1022=) c.1041C>T (p.Pro347=) n.3440C>T c.261C>T (p.Pro87=) c.3084C>T (p.Pro1028=) c.2130C>T (n.2130C>T) c.335C>T c.1044C>T (p.Pro348=) c.3087C>T (p.Pro1029=) c.3069C>T (p.Pro1023=) c.2907C>T (p.Pro969=) c.3015C>T (p.Pro1005=) c.2997C>T (p.Pro999=) c.2721C>T (p.Pro907=) n.3296C>T c.2889C>T (p.Pro963=) c.2703C>T (p.Pro901=) n.3299C>T c.2994C>T (p.Pro998=) c.3060C>T (p.Pro1020=) c.3012C>T (p.Pro1004=) c.2877C>T (p.Pro959=) c.2896-20C>T (n.2896-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28836104T>A | CA395409895 | ATXN2L | c.3067T>A (p.Tyr1023Asn) c.1042T>A (p.Tyr348Asn) n.3441T>A c.262T>A (p.Tyr88Asn) c.3085T>A (p.Tyr1029Asn) c.2131T>A (n.2131T>A) c.336T>A c.1045T>A (p.Tyr349Asn) c.3088T>A (p.Tyr1030Asn) c.3070T>A (p.Tyr1024Asn) c.2908T>A (p.Tyr970Asn) c.3016T>A (p.Tyr1006Asn) c.2998T>A (p.Tyr1000Asn) c.2722T>A (p.Tyr908Asn) n.3297T>A c.2890T>A (p.Tyr964Asn) c.2704T>A (p.Tyr902Asn) n.3300T>A c.2995T>A (p.Tyr999Asn) c.3061T>A (p.Tyr1021Asn) c.3013T>A (p.Tyr1005Asn) c.2878T>A (p.Tyr960Asn) c.2896-19T>A (n.2896-19T>A) | |
16 | g.28836104T>C | CA395409897 | ATXN2L | c.3067T>C (p.Tyr1023His) c.1042T>C (p.Tyr348His) n.3441T>C c.262T>C (p.Tyr88His) c.3085T>C (p.Tyr1029His) c.2131T>C (n.2131T>C) c.336T>C c.1045T>C (p.Tyr349His) c.3088T>C (p.Tyr1030His) c.3070T>C (p.Tyr1024His) c.2908T>C (p.Tyr970His) c.3016T>C (p.Tyr1006His) c.2998T>C (p.Tyr1000His) c.2722T>C (p.Tyr908His) n.3297T>C c.2890T>C (p.Tyr964His) c.2704T>C (p.Tyr902His) n.3300T>C c.2995T>C (p.Tyr999His) c.3061T>C (p.Tyr1021His) c.3013T>C (p.Tyr1005His) c.2878T>C (p.Tyr960His) c.2896-19T>C (n.2896-19T>C) | |
16 | g.28836104T>G | CA395409902 | ATXN2L | c.3067T>G (p.Tyr1023Asp) c.1042T>G (p.Tyr348Asp) n.3441T>G c.262T>G (p.Tyr88Asp) c.3085T>G (p.Tyr1029Asp) c.2131T>G (n.2131T>G) c.336T>G c.1045T>G (p.Tyr349Asp) c.3088T>G (p.Tyr1030Asp) c.3070T>G (p.Tyr1024Asp) c.2908T>G (p.Tyr970Asp) c.3016T>G (p.Tyr1006Asp) c.2998T>G (p.Tyr1000Asp) c.2722T>G (p.Tyr908Asp) n.3297T>G c.2890T>G (p.Tyr964Asp) c.2704T>G (p.Tyr902Asp) n.3300T>G c.2995T>G (p.Tyr999Asp) c.3061T>G (p.Tyr1021Asp) c.3013T>G (p.Tyr1005Asp) c.2878T>G (p.Tyr960Asp) c.2896-19T>G (n.2896-19T>G) | |
16 | g.28836105A>C | CA395409904 | ATXN2L | c.3068A>C (p.Tyr1023Ser) c.1043A>C (p.Tyr348Ser) n.3442A>C c.263A>C (p.Tyr88Ser) c.3086A>C (p.Tyr1029Ser) c.2132A>C (n.2132A>C) c.337A>C c.1046A>C (p.Tyr349Ser) c.3089A>C (p.Tyr1030Ser) c.3071A>C (p.Tyr1024Ser) c.2909A>C (p.Tyr970Ser) c.3017A>C (p.Tyr1006Ser) c.2999A>C (p.Tyr1000Ser) c.2723A>C (p.Tyr908Ser) n.3298A>C c.2891A>C (p.Tyr964Ser) c.2705A>C (p.Tyr902Ser) n.3301A>C c.2996A>C (p.Tyr999Ser) c.3062A>C (p.Tyr1021Ser) c.3014A>C (p.Tyr1005Ser) c.2879A>C (p.Tyr960Ser) c.2896-18A>C (n.2896-18A>C) | |
16 | g.28836105A>G | CA395409907 | ATXN2L | c.3068A>G (p.Tyr1023Cys) c.1043A>G (p.Tyr348Cys) n.3442A>G c.263A>G (p.Tyr88Cys) c.3086A>G (p.Tyr1029Cys) c.2132A>G (n.2132A>G) c.337A>G c.1046A>G (p.Tyr349Cys) c.3089A>G (p.Tyr1030Cys) c.3071A>G (p.Tyr1024Cys) c.2909A>G (p.Tyr970Cys) c.3017A>G (p.Tyr1006Cys) c.2999A>G (p.Tyr1000Cys) c.2723A>G (p.Tyr908Cys) n.3298A>G c.2891A>G (p.Tyr964Cys) c.2705A>G (p.Tyr902Cys) n.3301A>G c.2996A>G (p.Tyr999Cys) c.3062A>G (p.Tyr1021Cys) c.3014A>G (p.Tyr1005Cys) c.2879A>G (p.Tyr960Cys) c.2896-18A>G (n.2896-18A>G) | |
16 | g.28836105A>T | CA395409908 | ATXN2L | c.3068A>T (p.Tyr1023Phe) c.1043A>T (p.Tyr348Phe) n.3442A>T c.263A>T (p.Tyr88Phe) c.3086A>T (p.Tyr1029Phe) c.2132A>T (n.2132A>T) c.337A>T c.1046A>T (p.Tyr349Phe) c.3089A>T (p.Tyr1030Phe) c.3071A>T (p.Tyr1024Phe) c.2909A>T (p.Tyr970Phe) c.3017A>T (p.Tyr1006Phe) c.2999A>T (p.Tyr1000Phe) c.2723A>T (p.Tyr908Phe) n.3298A>T c.2891A>T (p.Tyr964Phe) c.2705A>T (p.Tyr902Phe) n.3301A>T c.2996A>T (p.Tyr999Phe) c.3062A>T (p.Tyr1021Phe) c.3014A>T (p.Tyr1005Phe) c.2879A>T (p.Tyr960Phe) c.2896-18A>T (n.2896-18A>T) | gnomAD v4 |
16 | g.28836106C>A | CA395409910 | ATXN2L | c.3069C>A (p.Tyr1023Ter) c.1044C>A (p.Tyr348Ter) n.3443C>A c.264C>A (p.Tyr88Ter) c.3087C>A (p.Tyr1029Ter) c.2133C>A (n.2133C>A) c.338C>A c.1047C>A (p.Tyr349Ter) c.3090C>A (p.Tyr1030Ter) c.3072C>A (p.Tyr1024Ter) c.2910C>A (p.Tyr970Ter) c.3018C>A (p.Tyr1006Ter) c.3000C>A (p.Tyr1000Ter) c.2724C>A (p.Tyr908Ter) n.3299C>A c.2892C>A (p.Tyr964Ter) c.2706C>A (p.Tyr902Ter) n.3302C>A c.2997C>A (p.Tyr999Ter) c.3063C>A (p.Tyr1021Ter) c.3015C>A (p.Tyr1005Ter) c.2880C>A (p.Tyr960Ter) c.2896-17C>A (n.2896-17C>A) | |
16 | g.28836106C= | CA2215806947 | ATXN2L | c.3069C= (p.Tyr1023=) c.1044C= (p.Tyr348=) n.3443C= c.264C= (p.Tyr88=) c.3087C= (p.Tyr1029=) c.2133C= (n.2133C=) c.338C= c.1047C= (p.Tyr349=) c.3090C= (p.Tyr1030=) c.3072C= (p.Tyr1024=) c.2910C= (p.Tyr970=) c.3018C= (p.Tyr1006=) c.3000C= (p.Tyr1000=) c.2724C= (p.Tyr908=) n.3299C= c.2892C= (p.Tyr964=) c.2706C= (p.Tyr902=) n.3302C= c.2997C= (p.Tyr999=) c.3063C= (p.Tyr1021=) c.3015C= (p.Tyr1005=) c.2880C= (p.Tyr960=) c.2896-17C= (n.2896-17C=) | |
16 | g.28836106C>G | CA395409911 | ATXN2L | c.3069C>G (p.Tyr1023Ter) c.1044C>G (p.Tyr348Ter) n.3443C>G c.264C>G (p.Tyr88Ter) c.3087C>G (p.Tyr1029Ter) c.2133C>G (n.2133C>G) c.338C>G c.1047C>G (p.Tyr349Ter) c.3090C>G (p.Tyr1030Ter) c.3072C>G (p.Tyr1024Ter) c.2910C>G (p.Tyr970Ter) c.3018C>G (p.Tyr1006Ter) c.3000C>G (p.Tyr1000Ter) c.2724C>G (p.Tyr908Ter) n.3299C>G c.2892C>G (p.Tyr964Ter) c.2706C>G (p.Tyr902Ter) n.3302C>G c.2997C>G (p.Tyr999Ter) c.3063C>G (p.Tyr1021Ter) c.3015C>G (p.Tyr1005Ter) c.2880C>G (p.Tyr960Ter) c.2896-17C>G (n.2896-17C>G) | |
16 | g.28836106C>T | CA494868515 | ATXN2L | c.3069C>T (p.Tyr1023=) c.1044C>T (p.Tyr348=) n.3443C>T c.264C>T (p.Tyr88=) c.3087C>T (p.Tyr1029=) c.2133C>T (n.2133C>T) c.338C>T c.1047C>T (p.Tyr349=) c.3090C>T (p.Tyr1030=) c.3072C>T (p.Tyr1024=) c.2910C>T (p.Tyr970=) c.3018C>T (p.Tyr1006=) c.3000C>T (p.Tyr1000=) c.2724C>T (p.Tyr908=) n.3299C>T c.2892C>T (p.Tyr964=) c.2706C>T (p.Tyr902=) n.3302C>T c.2997C>T (p.Tyr999=) c.3063C>T (p.Tyr1021=) c.3015C>T (p.Tyr1005=) c.2880C>T (p.Tyr960=) c.2896-17C>T (n.2896-17C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836107A= | CA2215806950 | ATXN2L | c.3070A= (p.Ile1024=) c.1045A= (p.Ile349=) n.3444A= c.265A= (p.Ile89=) c.3088A= (p.Ile1030=) c.2134A= (n.2134A=) c.339A= c.1048A= (p.Ile350=) c.3091A= (p.Ile1031=) c.3073A= (p.Ile1025=) c.2911A= (p.Ile971=) c.3019A= (p.Ile1007=) c.3001A= (p.Ile1001=) c.2725A= (p.Ile909=) n.3300A= c.2893A= (p.Ile965=) c.2707A= (p.Ile903=) n.3303A= c.2998A= (p.Ile1000=) c.3064A= (p.Ile1022=) c.3016A= (p.Ile1006=) c.2881A= (p.Ile961=) c.2896-16A= (n.2896-16A=) | |
16 | g.28836107A>C | CA395409914 | ATXN2L | c.3070A>C (p.Ile1024Leu) c.1045A>C (p.Ile349Leu) n.3444A>C c.265A>C (p.Ile89Leu) c.3088A>C (p.Ile1030Leu) c.2134A>C (n.2134A>C) c.339A>C c.1048A>C (p.Ile350Leu) c.3091A>C (p.Ile1031Leu) c.3073A>C (p.Ile1025Leu) c.2911A>C (p.Ile971Leu) c.3019A>C (p.Ile1007Leu) c.3001A>C (p.Ile1001Leu) c.2725A>C (p.Ile909Leu) n.3300A>C c.2893A>C (p.Ile965Leu) c.2707A>C (p.Ile903Leu) n.3303A>C c.2998A>C (p.Ile1000Leu) c.3064A>C (p.Ile1022Leu) c.3016A>C (p.Ile1006Leu) c.2881A>C (p.Ile961Leu) c.2896-16A>C (n.2896-16A>C) | |
16 | g.28836107A>G | CA395409916 | ATXN2L | c.3070A>G (p.Ile1024Val) c.1045A>G (p.Ile349Val) n.3444A>G c.265A>G (p.Ile89Val) c.3088A>G (p.Ile1030Val) c.2134A>G (n.2134A>G) c.339A>G c.1048A>G (p.Ile350Val) c.3091A>G (p.Ile1031Val) c.3073A>G (p.Ile1025Val) c.2911A>G (p.Ile971Val) c.3019A>G (p.Ile1007Val) c.3001A>G (p.Ile1001Val) c.2725A>G (p.Ile909Val) n.3300A>G c.2893A>G (p.Ile965Val) c.2707A>G (p.Ile903Val) n.3303A>G c.2998A>G (p.Ile1000Val) c.3064A>G (p.Ile1022Val) c.3016A>G (p.Ile1006Val) c.2881A>G (p.Ile961Val) c.2896-16A>G (n.2896-16A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836107A>T | CA395409915 | ATXN2L | c.3070A>T (p.Ile1024Phe) c.1045A>T (p.Ile349Phe) n.3444A>T c.265A>T (p.Ile89Phe) c.3088A>T (p.Ile1030Phe) c.2134A>T (n.2134A>T) c.339A>T c.1048A>T (p.Ile350Phe) c.3091A>T (p.Ile1031Phe) c.3073A>T (p.Ile1025Phe) c.2911A>T (p.Ile971Phe) c.3019A>T (p.Ile1007Phe) c.3001A>T (p.Ile1001Phe) c.2725A>T (p.Ile909Phe) n.3300A>T c.2893A>T (p.Ile965Phe) c.2707A>T (p.Ile903Phe) n.3303A>T c.2998A>T (p.Ile1000Phe) c.3064A>T (p.Ile1022Phe) c.3016A>T (p.Ile1006Phe) c.2881A>T (p.Ile961Phe) c.2896-16A>T (n.2896-16A>T) | |
16 | g.28836108T>A | CA395409918 | ATXN2L | c.3071T>A (p.Ile1024Asn) c.1046T>A (p.Ile349Asn) n.3445T>A c.266T>A (p.Ile89Asn) c.3089T>A (p.Ile1030Asn) c.2135T>A (n.2135T>A) c.340T>A c.1049T>A (p.Ile350Asn) c.3092T>A (p.Ile1031Asn) c.3074T>A (p.Ile1025Asn) c.2912T>A (p.Ile971Asn) c.3020T>A (p.Ile1007Asn) c.3002T>A (p.Ile1001Asn) c.2726T>A (p.Ile909Asn) n.3301T>A c.2894T>A (p.Ile965Asn) c.2708T>A (p.Ile903Asn) n.3304T>A c.2999T>A (p.Ile1000Asn) c.3065T>A (p.Ile1022Asn) c.3017T>A (p.Ile1006Asn) c.2882T>A (p.Ile961Asn) c.2896-15T>A (n.2896-15T>A) | |
16 | g.28836108T>C | CA395409921 | ATXN2L | c.3071T>C (p.Ile1024Thr) c.1046T>C (p.Ile349Thr) n.3445T>C c.266T>C (p.Ile89Thr) c.3089T>C (p.Ile1030Thr) c.2135T>C (n.2135T>C) c.340T>C c.1049T>C (p.Ile350Thr) c.3092T>C (p.Ile1031Thr) c.3074T>C (p.Ile1025Thr) c.2912T>C (p.Ile971Thr) c.3020T>C (p.Ile1007Thr) c.3002T>C (p.Ile1001Thr) c.2726T>C (p.Ile909Thr) n.3301T>C c.2894T>C (p.Ile965Thr) c.2708T>C (p.Ile903Thr) n.3304T>C c.2999T>C (p.Ile1000Thr) c.3065T>C (p.Ile1022Thr) c.3017T>C (p.Ile1006Thr) c.2882T>C (p.Ile961Thr) c.2896-15T>C (n.2896-15T>C) | gnomAD v4 |
16 | g.28836108T>G | CA395409919 | ATXN2L | c.3071T>G (p.Ile1024Ser) c.1046T>G (p.Ile349Ser) n.3445T>G c.266T>G (p.Ile89Ser) c.3089T>G (p.Ile1030Ser) c.2135T>G (n.2135T>G) c.340T>G c.1049T>G (p.Ile350Ser) c.3092T>G (p.Ile1031Ser) c.3074T>G (p.Ile1025Ser) c.2912T>G (p.Ile971Ser) c.3020T>G (p.Ile1007Ser) c.3002T>G (p.Ile1001Ser) c.2726T>G (p.Ile909Ser) n.3301T>G c.2894T>G (p.Ile965Ser) c.2708T>G (p.Ile903Ser) n.3304T>G c.2999T>G (p.Ile1000Ser) c.3065T>G (p.Ile1022Ser) c.3017T>G (p.Ile1006Ser) c.2882T>G (p.Ile961Ser) c.2896-15T>G (n.2896-15T>G) | |
16 | g.28836109C>A | CA494868534 | ATXN2L | c.3072C>A (p.Ile1024=) c.1047C>A (p.Ile349=) n.3446C>A c.267C>A (p.Ile89=) c.3090C>A (p.Ile1030=) c.2136C>A (n.2136C>A) c.341C>A c.1050C>A (p.Ile350=) c.3093C>A (p.Ile1031=) c.3075C>A (p.Ile1025=) c.2913C>A (p.Ile971=) c.3021C>A (p.Ile1007=) c.3003C>A (p.Ile1001=) c.2727C>A (p.Ile909=) n.3302C>A c.2895C>A (p.Ile965=) c.2709C>A (p.Ile903=) n.3305C>A c.3000C>A (p.Ile1000=) c.3066C>A (p.Ile1022=) c.3018C>A (p.Ile1006=) c.2883C>A (p.Ile961=) c.2896-14C>A (n.2896-14C>A) | |
16 | g.28836109C= | CA2215806955 | ATXN2L | c.3072C= (p.Ile1024=) c.1047C= (p.Ile349=) n.3446C= c.267C= (p.Ile89=) c.3090C= (p.Ile1030=) c.2136C= (n.2136C=) c.341C= c.1050C= (p.Ile350=) c.3093C= (p.Ile1031=) c.3075C= (p.Ile1025=) c.2913C= (p.Ile971=) c.3021C= (p.Ile1007=) c.3003C= (p.Ile1001=) c.2727C= (p.Ile909=) n.3302C= c.2895C= (p.Ile965=) c.2709C= (p.Ile903=) n.3305C= c.3000C= (p.Ile1000=) c.3066C= (p.Ile1022=) c.3018C= (p.Ile1006=) c.2883C= (p.Ile961=) c.2896-14C= (n.2896-14C=) | |
16 | g.28836109C>G | CA395409923 | ATXN2L | c.3072C>G (p.Ile1024Met) c.1047C>G (p.Ile349Met) n.3446C>G c.267C>G (p.Ile89Met) c.3090C>G (p.Ile1030Met) c.2136C>G (n.2136C>G) c.341C>G c.1050C>G (p.Ile350Met) c.3093C>G (p.Ile1031Met) c.3075C>G (p.Ile1025Met) c.2913C>G (p.Ile971Met) c.3021C>G (p.Ile1007Met) c.3003C>G (p.Ile1001Met) c.2727C>G (p.Ile909Met) n.3302C>G c.2895C>G (p.Ile965Met) c.2709C>G (p.Ile903Met) n.3305C>G c.3000C>G (p.Ile1000Met) c.3066C>G (p.Ile1022Met) c.3018C>G (p.Ile1006Met) c.2883C>G (p.Ile961Met) c.2896-14C>G (n.2896-14C>G) | |
16 | g.28836109C>T | CA7985171 | ATXN2L | c.3072C>T (p.Ile1024=) c.1047C>T (p.Ile349=) n.3446C>T c.267C>T (p.Ile89=) c.3090C>T (p.Ile1030=) c.2136C>T (n.2136C>T) c.341C>T c.1050C>T (p.Ile350=) c.3093C>T (p.Ile1031=) c.3075C>T (p.Ile1025=) c.2913C>T (p.Ile971=) c.3021C>T (p.Ile1007=) c.3003C>T (p.Ile1001=) c.2727C>T (p.Ile909=) n.3302C>T c.2895C>T (p.Ile965=) c.2709C>T (p.Ile903=) n.3305C>T c.3000C>T (p.Ile1000=) c.3066C>T (p.Ile1022=) c.3018C>T (p.Ile1006=) c.2883C>T (p.Ile961=) c.2896-14C>T (n.2896-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28836110G>A | CA7985172 | ATXN2L | c.3073G>A (p.Gly1025Arg) c.1048G>A (p.Gly350Arg) n.3447G>A c.268G>A (p.Gly90Arg) c.3091G>A (p.Gly1031Arg) c.2137G>A (n.2137G>A) c.342G>A c.1051G>A (p.Gly351Arg) c.3094G>A (p.Gly1032Arg) c.3076G>A (p.Gly1026Arg) c.2914G>A (p.Gly972Arg) c.3022G>A (p.Gly1008Arg) c.3004G>A (p.Gly1002Arg) c.2728G>A (p.Gly910Arg) n.3303G>A c.2896G>A (p.Gly966Arg) c.2710G>A (p.Gly904Arg) n.3306G>A c.3001G>A (p.Gly1001Arg) c.3067G>A (p.Gly1023Arg) c.3019G>A (p.Gly1007Arg) c.2884G>A (p.Gly962Arg) c.2896-13G>A (n.2896-13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836110G>C | CA395409926 | ATXN2L | c.3073G>C (p.Gly1025Arg) c.1048G>C (p.Gly350Arg) n.3447G>C c.268G>C (p.Gly90Arg) c.3091G>C (p.Gly1031Arg) c.2137G>C (n.2137G>C) c.342G>C c.1051G>C (p.Gly351Arg) c.3094G>C (p.Gly1032Arg) c.3076G>C (p.Gly1026Arg) c.2914G>C (p.Gly972Arg) c.3022G>C (p.Gly1008Arg) c.3004G>C (p.Gly1002Arg) c.2728G>C (p.Gly910Arg) n.3303G>C c.2896G>C (p.Gly966Arg) c.2710G>C (p.Gly904Arg) n.3306G>C c.3001G>C (p.Gly1001Arg) c.3067G>C (p.Gly1023Arg) c.3019G>C (p.Gly1007Arg) c.2884G>C (p.Gly962Arg) c.2896-13G>C (n.2896-13G>C) | |
16 | g.28836110G= | CA2215806960 | ATXN2L | c.3073G= (p.Gly1025=) c.1048G= (p.Gly350=) n.3447G= c.268G= (p.Gly90=) c.3091G= (p.Gly1031=) c.2137G= (n.2137G=) c.342G= c.1051G= (p.Gly351=) c.3094G= (p.Gly1032=) c.3076G= (p.Gly1026=) c.2914G= (p.Gly972=) c.3022G= (p.Gly1008=) c.3004G= (p.Gly1002=) c.2728G= (p.Gly910=) n.3303G= c.2896G= (p.Gly966=) c.2710G= (p.Gly904=) n.3306G= c.3001G= (p.Gly1001=) c.3067G= (p.Gly1023=) c.3019G= (p.Gly1007=) c.2884G= (p.Gly962=) c.2896-13G= (n.2896-13G=) | |
16 | g.28836110G>T | CA395409928 | ATXN2L | c.3073G>T (p.Gly1025Ter) c.1048G>T (p.Gly350Ter) n.3447G>T c.268G>T (p.Gly90Ter) c.3091G>T (p.Gly1031Ter) c.2137G>T (n.2137G>T) c.342G>T c.1051G>T (p.Gly351Ter) c.3094G>T (p.Gly1032Ter) c.3076G>T (p.Gly1026Ter) c.2914G>T (p.Gly972Ter) c.3022G>T (p.Gly1008Ter) c.3004G>T (p.Gly1002Ter) c.2728G>T (p.Gly910Ter) n.3303G>T c.2896G>T (p.Gly966Ter) c.2710G>T (p.Gly904Ter) n.3306G>T c.3001G>T (p.Gly1001Ter) c.3067G>T (p.Gly1023Ter) c.3019G>T (p.Gly1007Ter) c.2884G>T (p.Gly962Ter) c.2896-13G>T (n.2896-13G>T) | |
16 | g.28836111G>A | CA395409930 | ATXN2L | c.3074G>A (p.Gly1025Glu) c.1049G>A (p.Gly350Glu) n.3448G>A c.269G>A (p.Gly90Glu) c.3092G>A (p.Gly1031Glu) c.2138G>A (n.2138G>A) c.343G>A c.1052G>A (p.Gly351Glu) c.3095G>A (p.Gly1032Glu) c.3077G>A (p.Gly1026Glu) c.2915G>A (p.Gly972Glu) c.3023G>A (p.Gly1008Glu) c.3005G>A (p.Gly1002Glu) c.2729G>A (p.Gly910Glu) n.3304G>A c.2897G>A (p.Gly966Glu) c.2711G>A (p.Gly904Glu) n.3307G>A c.3002G>A (p.Gly1001Glu) c.3068G>A (p.Gly1023Glu) c.3020G>A (p.Gly1007Glu) c.2885G>A (p.Gly962Glu) c.2896-12G>A (n.2896-12G>A) | |
16 | g.28836111G>C | CA395409933 | ATXN2L | c.3074G>C (p.Gly1025Ala) c.1049G>C (p.Gly350Ala) n.3448G>C c.269G>C (p.Gly90Ala) c.3092G>C (p.Gly1031Ala) c.2138G>C (n.2138G>C) c.343G>C c.1052G>C (p.Gly351Ala) c.3095G>C (p.Gly1032Ala) c.3077G>C (p.Gly1026Ala) c.2915G>C (p.Gly972Ala) c.3023G>C (p.Gly1008Ala) c.3005G>C (p.Gly1002Ala) c.2729G>C (p.Gly910Ala) n.3304G>C c.2897G>C (p.Gly966Ala) c.2711G>C (p.Gly904Ala) n.3307G>C c.3002G>C (p.Gly1001Ala) c.3068G>C (p.Gly1023Ala) c.3020G>C (p.Gly1007Ala) c.2885G>C (p.Gly962Ala) c.2896-12G>C (n.2896-12G>C) | |
16 | g.28836111G>T | CA395409934 | ATXN2L | c.3074G>T (p.Gly1025Val) c.1049G>T (p.Gly350Val) n.3448G>T c.269G>T (p.Gly90Val) c.3092G>T (p.Gly1031Val) c.2138G>T (n.2138G>T) c.343G>T c.1052G>T (p.Gly351Val) c.3095G>T (p.Gly1032Val) c.3077G>T (p.Gly1026Val) c.2915G>T (p.Gly972Val) c.3023G>T (p.Gly1008Val) c.3005G>T (p.Gly1002Val) c.2729G>T (p.Gly910Val) n.3304G>T c.2897G>T (p.Gly966Val) c.2711G>T (p.Gly904Val) n.3307G>T c.3002G>T (p.Gly1001Val) c.3068G>T (p.Gly1023Val) c.3020G>T (p.Gly1007Val) c.2885G>T (p.Gly962Val) c.2896-12G>T (n.2896-12G>T) | |
16 | g.28836112A>C | CA494868594 | ATXN2L | c.3075A>C (p.Gly1025=) c.1050A>C (p.Gly350=) n.3449A>C c.270A>C (p.Gly90=) c.3093A>C (p.Gly1031=) c.2139A>C (n.2139A>C) c.344A>C c.1053A>C (p.Gly351=) c.3096A>C (p.Gly1032=) c.3078A>C (p.Gly1026=) c.2916A>C (p.Gly972=) c.3024A>C (p.Gly1008=) c.3006A>C (p.Gly1002=) c.2730A>C (p.Gly910=) n.3305A>C c.2898A>C (p.Gly966=) c.2712A>C (p.Gly904=) n.3308A>C c.3003A>C (p.Gly1001=) c.3069A>C (p.Gly1023=) c.3021A>C (p.Gly1007=) c.2886A>C (p.Gly962=) c.2896-11A>C (n.2896-11A>C) | |
16 | g.28836112A>G | CA494868600 | ATXN2L | c.3075A>G (p.Gly1025=) c.1050A>G (p.Gly350=) n.3449A>G c.270A>G (p.Gly90=) c.3093A>G (p.Gly1031=) c.2139A>G (n.2139A>G) c.344A>G c.1053A>G (p.Gly351=) c.3096A>G (p.Gly1032=) c.3078A>G (p.Gly1026=) c.2916A>G (p.Gly972=) c.3024A>G (p.Gly1008=) c.3006A>G (p.Gly1002=) c.2730A>G (p.Gly910=) n.3305A>G c.2898A>G (p.Gly966=) c.2712A>G (p.Gly904=) n.3308A>G c.3003A>G (p.Gly1001=) c.3069A>G (p.Gly1023=) c.3021A>G (p.Gly1007=) c.2886A>G (p.Gly962=) c.2896-11A>G (n.2896-11A>G) | |
16 | g.28836112A>T | CA494868603 | ATXN2L | c.3075A>T (p.Gly1025=) c.1050A>T (p.Gly350=) n.3449A>T c.270A>T (p.Gly90=) c.3093A>T (p.Gly1031=) c.2139A>T (n.2139A>T) c.344A>T c.1053A>T (p.Gly351=) c.3096A>T (p.Gly1032=) c.3078A>T (p.Gly1026=) c.2916A>T (p.Gly972=) c.3024A>T (p.Gly1008=) c.3006A>T (p.Gly1002=) c.2730A>T (p.Gly910=) n.3305A>T c.2898A>T (p.Gly966=) c.2712A>T (p.Gly904=) n.3308A>T c.3003A>T (p.Gly1001=) c.3069A>T (p.Gly1023=) c.3021A>T (p.Gly1007=) c.2886A>T (p.Gly962=) c.2896-11A>T (n.2896-11A>T) | |
16 | g.28836113C>A | CA395409937 | ATXN2L | c.3076C>A (p.His1026Asn) c.1051C>A (p.His351Asn) n.3450C>A c.271C>A (p.His91Asn) c.3094C>A (p.His1032Asn) c.2140C>A (n.2140C>A) c.345C>A c.1054C>A (p.His352Asn) c.3097C>A (p.His1033Asn) c.3079C>A (p.His1027Asn) c.2917C>A (p.His973Asn) c.3025C>A (p.His1009Asn) c.3007C>A (p.His1003Asn) c.2731C>A (p.His911Asn) n.3306C>A c.2899C>A (p.His967Asn) c.2713C>A (p.His905Asn) n.3309C>A c.3004C>A (p.His1002Asn) c.3070C>A (p.His1024Asn) c.3022C>A (p.His1008Asn) c.2887C>A (p.His963Asn) c.2896-10C>A (n.2896-10C>A) | |
16 | g.28836113C= | CA2215806962 | ATXN2L | c.3076C= (p.His1026=) c.1051C= (p.His351=) n.3450C= c.271C= (p.His91=) c.3094C= (p.His1032=) c.2140C= (n.2140C=) c.345C= c.1054C= (p.His352=) c.3097C= (p.His1033=) c.3079C= (p.His1027=) c.2917C= (p.His973=) c.3025C= (p.His1009=) c.3007C= (p.His1003=) c.2731C= (p.His911=) n.3306C= c.2899C= (p.His967=) c.2713C= (p.His905=) n.3309C= c.3004C= (p.His1002=) c.3070C= (p.His1024=) c.3022C= (p.His1008=) c.2887C= (p.His963=) c.2896-10C= (n.2896-10C=) | |
16 | g.28836113C>G | CA395409938 | ATXN2L | c.3076C>G (p.His1026Asp) c.1051C>G (p.His351Asp) n.3450C>G c.271C>G (p.His91Asp) c.3094C>G (p.His1032Asp) c.2140C>G (n.2140C>G) c.345C>G c.1054C>G (p.His352Asp) c.3097C>G (p.His1033Asp) c.3079C>G (p.His1027Asp) c.2917C>G (p.His973Asp) c.3025C>G (p.His1009Asp) c.3007C>G (p.His1003Asp) c.2731C>G (p.His911Asp) n.3306C>G c.2899C>G (p.His967Asp) c.2713C>G (p.His905Asp) n.3309C>G c.3004C>G (p.His1002Asp) c.3070C>G (p.His1024Asp) c.3022C>G (p.His1008Asp) c.2887C>G (p.His963Asp) c.2896-10C>G (n.2896-10C>G) | |
16 | g.28836113C>T | CA395409942 | ATXN2L | c.3076C>T (p.His1026Tyr) c.1051C>T (p.His351Tyr) n.3450C>T c.271C>T (p.His91Tyr) c.3094C>T (p.His1032Tyr) c.2140C>T (n.2140C>T) c.345C>T c.1054C>T (p.His352Tyr) c.3097C>T (p.His1033Tyr) c.3079C>T (p.His1027Tyr) c.2917C>T (p.His973Tyr) c.3025C>T (p.His1009Tyr) c.3007C>T (p.His1003Tyr) c.2731C>T (p.His911Tyr) n.3306C>T c.2899C>T (p.His967Tyr) c.2713C>T (p.His905Tyr) n.3309C>T c.3004C>T (p.His1002Tyr) c.3070C>T (p.His1024Tyr) c.3022C>T (p.His1008Tyr) c.2887C>T (p.His963Tyr) c.2896-10C>T (n.2896-10C>T) | dbSNP gnomAD v4 |
16 | g.28836114A>C | CA395409945 | ATXN2L | c.3077A>C (p.His1026Pro) c.1052A>C (p.His351Pro) n.3451A>C c.272A>C (p.His91Pro) c.3095A>C (p.His1032Pro) c.2141A>C (n.2141A>C) c.346A>C c.1055A>C (p.His352Pro) c.3098A>C (p.His1033Pro) c.3080A>C (p.His1027Pro) c.2918A>C (p.His973Pro) c.3026A>C (p.His1009Pro) c.3008A>C (p.His1003Pro) c.2732A>C (p.His911Pro) n.3307A>C c.2900A>C (p.His967Pro) c.2714A>C (p.His905Pro) n.3310A>C c.3005A>C (p.His1002Pro) c.3071A>C (p.His1024Pro) c.3023A>C (p.His1008Pro) c.2888A>C (p.His963Pro) c.2896-9A>C (n.2896-9A>C) | |
16 | g.28836114A>G | CA395409947 | ATXN2L | c.3077A>G (p.His1026Arg) c.1052A>G (p.His351Arg) n.3451A>G c.272A>G (p.His91Arg) c.3095A>G (p.His1032Arg) c.2141A>G (n.2141A>G) c.346A>G c.1055A>G (p.His352Arg) c.3098A>G (p.His1033Arg) c.3080A>G (p.His1027Arg) c.2918A>G (p.His973Arg) c.3026A>G (p.His1009Arg) c.3008A>G (p.His1003Arg) c.2732A>G (p.His911Arg) n.3307A>G c.2900A>G (p.His967Arg) c.2714A>G (p.His905Arg) n.3310A>G c.3005A>G (p.His1002Arg) c.3071A>G (p.His1024Arg) c.3023A>G (p.His1008Arg) c.2888A>G (p.His963Arg) c.2896-9A>G (n.2896-9A>G) | |
16 | g.28836114A>T | CA395409946 | ATXN2L | c.3077A>T (p.His1026Leu) c.1052A>T (p.His351Leu) n.3451A>T c.272A>T (p.His91Leu) c.3095A>T (p.His1032Leu) c.2141A>T (n.2141A>T) c.346A>T c.1055A>T (p.His352Leu) c.3098A>T (p.His1033Leu) c.3080A>T (p.His1027Leu) c.2918A>T (p.His973Leu) c.3026A>T (p.His1009Leu) c.3008A>T (p.His1003Leu) c.2732A>T (p.His911Leu) n.3307A>T c.2900A>T (p.His967Leu) c.2714A>T (p.His905Leu) n.3310A>T c.3005A>T (p.His1002Leu) c.3071A>T (p.His1024Leu) c.3023A>T (p.His1008Leu) c.2888A>T (p.His963Leu) c.2896-9A>T (n.2896-9A>T) | |
16 | g.28836115C>A | CA395409950 | ATXN2L | c.3078C>A (p.His1026Gln) c.1053C>A (p.His351Gln) n.3452C>A c.273C>A (p.His91Gln) c.3096C>A (p.His1032Gln) c.2142C>A (n.2142C>A) c.347C>A c.1056C>A (p.His352Gln) c.3099C>A (p.His1033Gln) c.3081C>A (p.His1027Gln) c.2919C>A (p.His973Gln) c.3027C>A (p.His1009Gln) c.3009C>A (p.His1003Gln) c.2733C>A (p.His911Gln) n.3308C>A c.2901C>A (p.His967Gln) c.2715C>A (p.His905Gln) n.3311C>A c.3006C>A (p.His1002Gln) c.3072C>A (p.His1024Gln) c.3024C>A (p.His1008Gln) c.2889C>A (p.His963Gln) c.2896-8C>A (n.2896-8C>A) | |
16 | g.28836115C= | CA2215806969 | ATXN2L | c.3078C= (p.His1026=) c.1053C= (p.His351=) n.3452C= c.273C= (p.His91=) c.3096C= (p.His1032=) c.2142C= (n.2142C=) c.347C= c.1056C= (p.His352=) c.3099C= (p.His1033=) c.3081C= (p.His1027=) c.2919C= (p.His973=) c.3027C= (p.His1009=) c.3009C= (p.His1003=) c.2733C= (p.His911=) n.3308C= c.2901C= (p.His967=) c.2715C= (p.His905=) n.3311C= c.3006C= (p.His1002=) c.3072C= (p.His1024=) c.3024C= (p.His1008=) c.2889C= (p.His963=) c.2896-8C= (n.2896-8C=) | |
16 | g.28836115C>G | CA395409952 | ATXN2L | c.3078C>G (p.His1026Gln) c.1053C>G (p.His351Gln) n.3452C>G c.273C>G (p.His91Gln) c.3096C>G (p.His1032Gln) c.2142C>G (n.2142C>G) c.347C>G c.1056C>G (p.His352Gln) c.3099C>G (p.His1033Gln) c.3081C>G (p.His1027Gln) c.2919C>G (p.His973Gln) c.3027C>G (p.His1009Gln) c.3009C>G (p.His1003Gln) c.2733C>G (p.His911Gln) n.3308C>G c.2901C>G (p.His967Gln) c.2715C>G (p.His905Gln) n.3311C>G c.3006C>G (p.His1002Gln) c.3072C>G (p.His1024Gln) c.3024C>G (p.His1008Gln) c.2889C>G (p.His963Gln) c.2896-8C>G (n.2896-8C>G) | gnomAD v4 |
16 | g.28836115C>T | CA494868629 | ATXN2L | c.3078C>T (p.His1026=) c.1053C>T (p.His351=) n.3452C>T c.273C>T (p.His91=) c.3096C>T (p.His1032=) c.2142C>T (n.2142C>T) c.347C>T c.1056C>T (p.His352=) c.3099C>T (p.His1033=) c.3081C>T (p.His1027=) c.2919C>T (p.His973=) c.3027C>T (p.His1009=) c.3009C>T (p.His1003=) c.2733C>T (p.His911=) n.3308C>T c.2901C>T (p.His967=) c.2715C>T (p.His905=) n.3311C>T c.3006C>T (p.His1002=) c.3072C>T (p.His1024=) c.3024C>T (p.His1008=) c.2889C>T (p.His963=) c.2896-8C>T (n.2896-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836116C>A | CA395409955 | ATXN2L | c.3079C>A (p.Pro1027Thr) c.1054C>A (p.Pro352Thr) n.3453C>A c.274C>A (p.Pro92Thr) c.3097C>A (p.Pro1033Thr) c.2143C>A (n.2143C>A) c.348C>A c.1057C>A (p.Pro353Thr) c.3100C>A (p.Pro1034Thr) c.3082C>A (p.Pro1028Thr) c.2920C>A (p.Pro974Thr) c.3028C>A (p.Pro1010Thr) c.3010C>A (p.Pro1004Thr) c.2734C>A (p.Pro912Thr) n.3309C>A c.2902C>A (p.Pro968Thr) c.2716C>A (p.Pro906Thr) n.3312C>A c.3007C>A (p.Pro1003Thr) c.3073C>A (p.Pro1025Thr) c.3025C>A (p.Pro1009Thr) c.2890C>A (p.Pro964Thr) c.2896-7C>A (n.2896-7C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836116C= | CA2215806972 | ATXN2L | c.3079C= (p.Pro1027=) c.1054C= (p.Pro352=) n.3453C= c.274C= (p.Pro92=) c.3097C= (p.Pro1033=) c.2143C= (n.2143C=) c.348C= c.1057C= (p.Pro353=) c.3100C= (p.Pro1034=) c.3082C= (p.Pro1028=) c.2920C= (p.Pro974=) c.3028C= (p.Pro1010=) c.3010C= (p.Pro1004=) c.2734C= (p.Pro912=) n.3309C= c.2902C= (p.Pro968=) c.2716C= (p.Pro906=) n.3312C= c.3007C= (p.Pro1003=) c.3073C= (p.Pro1025=) c.3025C= (p.Pro1009=) c.2890C= (p.Pro964=) c.2896-7C= (n.2896-7C=) | |
16 | g.28836116C>G | CA395409957 | ATXN2L | c.3079C>G (p.Pro1027Ala) c.1054C>G (p.Pro352Ala) n.3453C>G c.274C>G (p.Pro92Ala) c.3097C>G (p.Pro1033Ala) c.2143C>G (n.2143C>G) c.348C>G c.1057C>G (p.Pro353Ala) c.3100C>G (p.Pro1034Ala) c.3082C>G (p.Pro1028Ala) c.2920C>G (p.Pro974Ala) c.3028C>G (p.Pro1010Ala) c.3010C>G (p.Pro1004Ala) c.2734C>G (p.Pro912Ala) n.3309C>G c.2902C>G (p.Pro968Ala) c.2716C>G (p.Pro906Ala) n.3312C>G c.3007C>G (p.Pro1003Ala) c.3073C>G (p.Pro1025Ala) c.3025C>G (p.Pro1009Ala) c.2890C>G (p.Pro964Ala) c.2896-7C>G (n.2896-7C>G) | |
16 | g.28836116C>T | CA395409958 | ATXN2L | c.3079C>T (p.Pro1027Ser) c.1054C>T (p.Pro352Ser) n.3453C>T c.274C>T (p.Pro92Ser) c.3097C>T (p.Pro1033Ser) c.2143C>T (n.2143C>T) c.348C>T c.1057C>T (p.Pro353Ser) c.3100C>T (p.Pro1034Ser) c.3082C>T (p.Pro1028Ser) c.2920C>T (p.Pro974Ser) c.3028C>T (p.Pro1010Ser) c.3010C>T (p.Pro1004Ser) c.2734C>T (p.Pro912Ser) n.3309C>T c.2902C>T (p.Pro968Ser) c.2716C>T (p.Pro906Ser) n.3312C>T c.3007C>T (p.Pro1003Ser) c.3073C>T (p.Pro1025Ser) c.3025C>T (p.Pro1009Ser) c.2890C>T (p.Pro964Ser) c.2896-7C>T (n.2896-7C>T) | COSMIC COSMIC |
16 | g.28836117C>A | CA395409959 | ATXN2L | c.3080C>A (p.Pro1027His) c.1055C>A (p.Pro352His) n.3454C>A c.275C>A (p.Pro92His) c.3098C>A (p.Pro1033His) c.2144C>A (n.2144C>A) c.349C>A c.1058C>A (p.Pro353His) c.3101C>A (p.Pro1034His) c.3083C>A (p.Pro1028His) c.2921C>A (p.Pro974His) c.3029C>A (p.Pro1010His) c.3011C>A (p.Pro1004His) c.2735C>A (p.Pro912His) n.3310C>A c.2903C>A (p.Pro968His) c.2717C>A (p.Pro906His) n.3313C>A c.3008C>A (p.Pro1003His) c.3074C>A (p.Pro1025His) c.3026C>A (p.Pro1009His) c.2891C>A (p.Pro964His) c.2896-6C>A (n.2896-6C>A) | |
16 | g.28836117C= | CA2215806974 | ATXN2L | c.3080C= (p.Pro1027=) c.1055C= (p.Pro352=) n.3454C= c.275C= (p.Pro92=) c.3098C= (p.Pro1033=) c.2144C= (n.2144C=) c.349C= c.1058C= (p.Pro353=) c.3101C= (p.Pro1034=) c.3083C= (p.Pro1028=) c.2921C= (p.Pro974=) c.3029C= (p.Pro1010=) c.3011C= (p.Pro1004=) c.2735C= (p.Pro912=) n.3310C= c.2903C= (p.Pro968=) c.2717C= (p.Pro906=) n.3313C= c.3008C= (p.Pro1003=) c.3074C= (p.Pro1025=) c.3026C= (p.Pro1009=) c.2891C= (p.Pro964=) c.2896-6C= (n.2896-6C=) | |
16 | g.28836117C>G | CA395409964 | ATXN2L | c.3080C>G (p.Pro1027Arg) c.1055C>G (p.Pro352Arg) n.3454C>G c.275C>G (p.Pro92Arg) c.3098C>G (p.Pro1033Arg) c.2144C>G (n.2144C>G) c.349C>G c.1058C>G (p.Pro353Arg) c.3101C>G (p.Pro1034Arg) c.3083C>G (p.Pro1028Arg) c.2921C>G (p.Pro974Arg) c.3029C>G (p.Pro1010Arg) c.3011C>G (p.Pro1004Arg) c.2735C>G (p.Pro912Arg) n.3310C>G c.2903C>G (p.Pro968Arg) c.2717C>G (p.Pro906Arg) n.3313C>G c.3008C>G (p.Pro1003Arg) c.3074C>G (p.Pro1025Arg) c.3026C>G (p.Pro1009Arg) c.2891C>G (p.Pro964Arg) c.2896-6C>G (n.2896-6C>G) | |
16 | g.28836117C>T | CA395409966 | ATXN2L | c.3080C>T (p.Pro1027Leu) c.1055C>T (p.Pro352Leu) n.3454C>T c.275C>T (p.Pro92Leu) c.3098C>T (p.Pro1033Leu) c.2144C>T (n.2144C>T) c.349C>T c.1058C>T (p.Pro353Leu) c.3101C>T (p.Pro1034Leu) c.3083C>T (p.Pro1028Leu) c.2921C>T (p.Pro974Leu) c.3029C>T (p.Pro1010Leu) c.3011C>T (p.Pro1004Leu) c.2735C>T (p.Pro912Leu) n.3310C>T c.2903C>T (p.Pro968Leu) c.2717C>T (p.Pro906Leu) n.3313C>T c.3008C>T (p.Pro1003Leu) c.3074C>T (p.Pro1025Leu) c.3026C>T (p.Pro1009Leu) c.2891C>T (p.Pro964Leu) c.2896-6C>T (n.2896-6C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836118C>A | CA494868675 | ATXN2L | c.3081C>A (p.Pro1027=) c.1056C>A (p.Pro352=) n.3455C>A c.276C>A (p.Pro92=) c.3099C>A (p.Pro1033=) c.2145C>A (n.2145C>A) c.350C>A c.1059C>A (p.Pro353=) c.3102C>A (p.Pro1034=) c.3084C>A (p.Pro1028=) c.2922C>A (p.Pro974=) c.3030C>A (p.Pro1010=) c.3012C>A (p.Pro1004=) c.2736C>A (p.Pro912=) n.3311C>A c.2904C>A (p.Pro968=) c.2718C>A (p.Pro906=) n.3314C>A c.3009C>A (p.Pro1003=) c.3075C>A (p.Pro1025=) c.3027C>A (p.Pro1009=) c.2892C>A (p.Pro964=) c.2896-5C>A (n.2896-5C>A) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28836118C= | CA2215806978 | ATXN2L | c.3081C= (p.Pro1027=) c.1056C= (p.Pro352=) n.3455C= c.276C= (p.Pro92=) c.3099C= (p.Pro1033=) c.2145C= (n.2145C=) c.350C= c.1059C= (p.Pro353=) c.3102C= (p.Pro1034=) c.3084C= (p.Pro1028=) c.2922C= (p.Pro974=) c.3030C= (p.Pro1010=) c.3012C= (p.Pro1004=) c.2736C= (p.Pro912=) n.3311C= c.2904C= (p.Pro968=) c.2718C= (p.Pro906=) n.3314C= c.3009C= (p.Pro1003=) c.3075C= (p.Pro1025=) c.3027C= (p.Pro1009=) c.2892C= (p.Pro964=) c.2896-5C= (n.2896-5C=) | |
16 | g.28836118C>G | CA7985173 | ATXN2L | c.3081C>G (p.Pro1027=) c.1056C>G (p.Pro352=) n.3455C>G c.276C>G (p.Pro92=) c.3099C>G (p.Pro1033=) c.2145C>G (n.2145C>G) c.350C>G c.1059C>G (p.Pro353=) c.3102C>G (p.Pro1034=) c.3084C>G (p.Pro1028=) c.2922C>G (p.Pro974=) c.3030C>G (p.Pro1010=) c.3012C>G (p.Pro1004=) c.2736C>G (p.Pro912=) n.3311C>G c.2904C>G (p.Pro968=) c.2718C>G (p.Pro906=) n.3314C>G c.3009C>G (p.Pro1003=) c.3075C>G (p.Pro1025=) c.3027C>G (p.Pro1009=) c.2892C>G (p.Pro964=) c.2896-5C>G (n.2896-5C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836118C>T | CA494868684 | ATXN2L | c.3081C>T (p.Pro1027=) c.1056C>T (p.Pro352=) n.3455C>T c.276C>T (p.Pro92=) c.3099C>T (p.Pro1033=) c.2145C>T (n.2145C>T) c.350C>T c.1059C>T (p.Pro353=) c.3102C>T (p.Pro1034=) c.3084C>T (p.Pro1028=) c.2922C>T (p.Pro974=) c.3030C>T (p.Pro1010=) c.3012C>T (p.Pro1004=) c.2736C>T (p.Pro912=) n.3311C>T c.2904C>T (p.Pro968=) c.2718C>T (p.Pro906=) n.3314C>T c.3009C>T (p.Pro1003=) c.3075C>T (p.Pro1025=) c.3027C>T (p.Pro1009=) c.2892C>T (p.Pro964=) c.2896-5C>T (n.2896-5C>T) | |
16 | g.28836119C>A | CA395409970 | ATXN2L | c.3082C>A (p.Gln1028Lys) c.1057C>A (p.Gln353Lys) n.3456C>A c.277C>A (p.Gln93Lys) c.3100C>A (p.Gln1034Lys) c.2146C>A (n.2146C>A) c.351C>A c.1060C>A (p.Gln354Lys) c.3103C>A (p.Gln1035Lys) c.3085C>A (p.Gln1029Lys) c.2923C>A (p.Gln975Lys) c.3031C>A (p.Gln1011Lys) c.3013C>A (p.Gln1005Lys) c.2737C>A (p.Gln913Lys) n.3312C>A c.2905C>A (p.Gln969Lys) c.2719C>A (p.Gln907Lys) n.3315C>A c.3010C>A (p.Gln1004Lys) c.3076C>A (p.Gln1026Lys) c.3028C>A (p.Gln1010Lys) c.2893C>A (p.Gln965Lys) c.2896-4C>A (n.2896-4C>A) | |
16 | g.28836119C>G | CA395409972 | ATXN2L | c.3082C>G (p.Gln1028Glu) c.1057C>G (p.Gln353Glu) n.3456C>G c.277C>G (p.Gln93Glu) c.3100C>G (p.Gln1034Glu) c.2146C>G (n.2146C>G) c.351C>G c.1060C>G (p.Gln354Glu) c.3103C>G (p.Gln1035Glu) c.3085C>G (p.Gln1029Glu) c.2923C>G (p.Gln975Glu) c.3031C>G (p.Gln1011Glu) c.3013C>G (p.Gln1005Glu) c.2737C>G (p.Gln913Glu) n.3312C>G c.2905C>G (p.Gln969Glu) c.2719C>G (p.Gln907Glu) n.3315C>G c.3010C>G (p.Gln1004Glu) c.3076C>G (p.Gln1026Glu) c.3028C>G (p.Gln1010Glu) c.2893C>G (p.Gln965Glu) c.2896-4C>G (n.2896-4C>G) | |
16 | g.28836119C>T | CA395409968 | ATXN2L | c.3082C>T (p.Gln1028Ter) c.1057C>T (p.Gln353Ter) n.3456C>T c.277C>T (p.Gln93Ter) c.3100C>T (p.Gln1034Ter) c.2146C>T (n.2146C>T) c.351C>T c.1060C>T (p.Gln354Ter) c.3103C>T (p.Gln1035Ter) c.3085C>T (p.Gln1029Ter) c.2923C>T (p.Gln975Ter) c.3031C>T (p.Gln1011Ter) c.3013C>T (p.Gln1005Ter) c.2737C>T (p.Gln913Ter) n.3312C>T c.2905C>T (p.Gln969Ter) c.2719C>T (p.Gln907Ter) n.3315C>T c.3010C>T (p.Gln1004Ter) c.3076C>T (p.Gln1026Ter) c.3028C>T (p.Gln1010Ter) c.2893C>T (p.Gln965Ter) c.2896-4C>T (n.2896-4C>T) | gnomAD v4 |
16 | g.28836120A>C | CA395409974 | ATXN2L | c.3083A>C (p.Gln1028Pro) c.1058A>C (p.Gln353Pro) n.3457A>C c.278A>C (p.Gln93Pro) c.3101A>C (p.Gln1034Pro) c.2147A>C (n.2147A>C) c.352A>C c.1061A>C (p.Gln354Pro) c.3104A>C (p.Gln1035Pro) c.3086A>C (p.Gln1029Pro) c.2924A>C (p.Gln975Pro) c.3032A>C (p.Gln1011Pro) c.3014A>C (p.Gln1005Pro) c.2738A>C (p.Gln913Pro) n.3313A>C c.2906A>C (p.Gln969Pro) c.2720A>C (p.Gln907Pro) n.3316A>C c.3011A>C (p.Gln1004Pro) c.3077A>C (p.Gln1026Pro) c.3029A>C (p.Gln1010Pro) c.2894A>C (p.Gln965Pro) c.2896-3A>C (n.2896-3A>C) | |
16 | g.28836120A>G | CA395409976 | ATXN2L | c.3083A>G (p.Gln1028Arg) c.1058A>G (p.Gln353Arg) n.3457A>G c.278A>G (p.Gln93Arg) c.3101A>G (p.Gln1034Arg) c.2147A>G (n.2147A>G) c.352A>G c.1061A>G (p.Gln354Arg) c.3104A>G (p.Gln1035Arg) c.3086A>G (p.Gln1029Arg) c.2924A>G (p.Gln975Arg) c.3032A>G (p.Gln1011Arg) c.3014A>G (p.Gln1005Arg) c.2738A>G (p.Gln913Arg) n.3313A>G c.2906A>G (p.Gln969Arg) c.2720A>G (p.Gln907Arg) n.3316A>G c.3011A>G (p.Gln1004Arg) c.3077A>G (p.Gln1026Arg) c.3029A>G (p.Gln1010Arg) c.2894A>G (p.Gln965Arg) c.2896-3A>G (n.2896-3A>G) | |
16 | g.28836120A>T | CA395409978 | ATXN2L | c.3083A>T (p.Gln1028Leu) c.1058A>T (p.Gln353Leu) n.3457A>T c.278A>T (p.Gln93Leu) c.3101A>T (p.Gln1034Leu) c.2147A>T (n.2147A>T) c.352A>T c.1061A>T (p.Gln354Leu) c.3104A>T (p.Gln1035Leu) c.3086A>T (p.Gln1029Leu) c.2924A>T (p.Gln975Leu) c.3032A>T (p.Gln1011Leu) c.3014A>T (p.Gln1005Leu) c.2738A>T (p.Gln913Leu) n.3313A>T c.2906A>T (p.Gln969Leu) c.2720A>T (p.Gln907Leu) n.3316A>T c.3011A>T (p.Gln1004Leu) c.3077A>T (p.Gln1026Leu) c.3029A>T (p.Gln1010Leu) c.2894A>T (p.Gln965Leu) c.2896-3A>T (n.2896-3A>T) | |
16 | g.28836121A>C | CA395409980 | ATXN2L | c.3084A>C (p.Gln1028His) c.1059A>C (p.Gln353His) n.3458A>C c.279A>C (p.Gln93His) c.3102A>C (p.Gln1034His) c.2148A>C (n.2148A>C) c.353A>C c.1062A>C (p.Gln354His) c.3105A>C (p.Gln1035His) c.3087A>C (p.Gln1029His) c.2925A>C (p.Gln975His) c.3033A>C (p.Gln1011His) c.3015A>C (p.Gln1005His) c.2739A>C (p.Gln913His) n.3314A>C c.2907A>C (p.Gln969His) c.2721A>C (p.Gln907His) n.3317A>C c.3012A>C (p.Gln1004His) c.3078A>C (p.Gln1026His) c.3030A>C (p.Gln1010His) c.2895A>C (p.Gln965His) c.2896-2A>C (n.2896-2A>C) | |
16 | g.28836121A>G | CA494868726 | ATXN2L | c.3084A>G (p.Gln1028=) c.1059A>G (p.Gln353=) n.3458A>G c.279A>G (p.Gln93=) c.3102A>G (p.Gln1034=) c.2148A>G (n.2148A>G) c.353A>G c.1062A>G (p.Gln354=) c.3105A>G (p.Gln1035=) c.3087A>G (p.Gln1029=) c.2925A>G (p.Gln975=) c.3033A>G (p.Gln1011=) c.3015A>G (p.Gln1005=) c.2739A>G (p.Gln913=) n.3314A>G c.2907A>G (p.Gln969=) c.2721A>G (p.Gln907=) n.3317A>G c.3012A>G (p.Gln1004=) c.3078A>G (p.Gln1026=) c.3030A>G (p.Gln1010=) c.2895A>G (p.Gln965=) c.2896-2A>G (n.2896-2A>G) | |
16 | g.28836121A>T | CA395409982 | ATXN2L | c.3084A>T (p.Gln1028His) c.1059A>T (p.Gln353His) n.3458A>T c.279A>T (p.Gln93His) c.3102A>T (p.Gln1034His) c.2148A>T (n.2148A>T) c.353A>T c.1062A>T (p.Gln354His) c.3105A>T (p.Gln1035His) c.3087A>T (p.Gln1029His) c.2925A>T (p.Gln975His) c.3033A>T (p.Gln1011His) c.3015A>T (p.Gln1005His) c.2739A>T (p.Gln913His) n.3314A>T c.2907A>T (p.Gln969His) c.2721A>T (p.Gln907His) n.3317A>T c.3012A>T (p.Gln1004His) c.3078A>T (p.Gln1026His) c.3030A>T (p.Gln1010His) c.2895A>T (p.Gln965His) c.2896-2A>T (n.2896-2A>T) | gnomAD v4 |
16 | g.28836122G>A | CA395409984 | ATXN2L | c.3085G>A (p.Gly1029Ser) c.3085G>A (p.Val1029Ile) c.3085G>A (p.Ala1029Thr) c.1060G>A (p.Gly354Ser) n.3459G>A c.280G>A (p.Ala94Thr) c.3103G>A (p.Gly1035Ser) c.2149G>A (n.2149G>A) c.354G>A c.1063G>A (p.Gly355Ser) c.3106G>A (p.Gly1036Ser) c.3088G>A (p.Gly1030Ser) c.3106G>A (p.Val1036Ile) c.3106G>A (p.Ala1036Thr) c.3103G>A (p.Val1035Ile) c.2926G>A (p.Gly976Ser) c.3034G>A (p.Gly1012Ser) c.3016G>A (p.Gly1006Ser) c.2740G>A (p.Gly914Ser) n.3315G>A c.2908G>A (p.Gly970Ser) c.2722G>A (p.Gly908Ser) n.3318G>A c.3088G>A (p.Val1030Ile) c.3013G>A (p.Gly1005Ser) c.3079G>A (p.Gly1027Ser) c.3013G>A (p.Val1005Ile) c.3103G>A (p.Ala1035Thr) c.3088G>A (p.Ala1030Thr) c.3031G>A (p.Gly1011Ser) c.3016G>A (p.Val1006Ile) c.3031G>A (p.Ala1011Thr) c.2896G>A (p.Gly966Ser) c.2896-1G>A (n.2896-1G>A) | |
16 | g.28836122G>C | CA395409985 | ATXN2L | c.3085G>C (p.Gly1029Arg) c.3085G>C (p.Val1029Leu) c.3085G>C (p.Ala1029Pro) c.1060G>C (p.Gly354Arg) n.3459G>C c.280G>C (p.Ala94Pro) c.3103G>C (p.Gly1035Arg) c.2149G>C (n.2149G>C) c.354G>C c.1063G>C (p.Gly355Arg) c.3106G>C (p.Gly1036Arg) c.3088G>C (p.Gly1030Arg) c.3106G>C (p.Val1036Leu) c.3106G>C (p.Ala1036Pro) c.3103G>C (p.Val1035Leu) c.2926G>C (p.Gly976Arg) c.3034G>C (p.Gly1012Arg) c.3016G>C (p.Gly1006Arg) c.2740G>C (p.Gly914Arg) n.3315G>C c.2908G>C (p.Gly970Arg) c.2722G>C (p.Gly908Arg) n.3318G>C c.3088G>C (p.Val1030Leu) c.3013G>C (p.Gly1005Arg) c.3079G>C (p.Gly1027Arg) c.3013G>C (p.Val1005Leu) c.3103G>C (p.Ala1035Pro) c.3088G>C (p.Ala1030Pro) c.3031G>C (p.Gly1011Arg) c.3016G>C (p.Val1006Leu) c.3031G>C (p.Ala1011Pro) c.2896G>C (p.Gly966Arg) c.2896-1G>C (n.2896-1G>C) | |
16 | g.28836122G>T | CA395409987 | ATXN2L | c.3085G>T (p.Gly1029Cys) c.3085G>T (p.Val1029Phe) c.3085G>T (p.Ala1029Ser) c.1060G>T (p.Gly354Cys) n.3459G>T c.280G>T (p.Ala94Ser) c.3103G>T (p.Gly1035Cys) c.2149G>T (n.2149G>T) c.354G>T c.1063G>T (p.Gly355Cys) c.3106G>T (p.Gly1036Cys) c.3088G>T (p.Gly1030Cys) c.3106G>T (p.Val1036Leu) c.3106G>T (p.Val1036Phe) c.3106G>T (p.Ala1036Ser) c.3103G>T (p.Val1035Phe) c.2926G>T (p.Gly976Cys) c.3034G>T (p.Gly1012Cys) c.3016G>T (p.Gly1006Cys) c.2740G>T (p.Gly914Cys) n.3315G>T c.2908G>T (p.Gly970Cys) c.2722G>T (p.Gly908Cys) n.3318G>T c.3103G>T (p.Val1035Leu) c.3088G>T (p.Val1030Leu) c.3085G>T (p.Val1029Leu) c.3013G>T (p.Gly1005Cys) c.3079G>T (p.Gly1027Cys) c.3013G>T (p.Val1005Leu) c.3103G>T (p.Ala1035Ser) c.3088G>T (p.Ala1030Ser) c.3088G>T (p.Val1030Phe) c.3031G>T (p.Gly1011Cys) c.3016G>T (p.Val1006Phe) c.3031G>T (p.Ala1011Ser) c.3013G>T (p.Val1005Phe) c.2896G>T (p.Gly966Cys) c.2896-1G>T (n.2896-1G>T) | gnomAD v4 |
16 | g.28836123G>A | CA395409988 | ATXN2L | c.3086G>A (p.Gly1029Asp) c.3085+1G>A (n.3085+1G>A) c.1061G>A (p.Gly354Asp) n.3460G>A c.280+1G>A (n.280+1G>A) c.3104G>A (p.Gly1035Asp) c.2150G>A (n.2150G>A) c.354+1G>A c.1064G>A (p.Gly355Asp) c.3107G>A (p.Gly1036Asp) c.3089G>A (p.Gly1030Asp) c.3106+1G>A (n.3106+1G>A) c.3103+1G>A (n.3103+1G>A) c.2927G>A (p.Gly976Asp) c.3035G>A (p.Gly1012Asp) c.3017G>A (p.Gly1006Asp) c.2741G>A (p.Gly914Asp) n.3316G>A c.2909G>A (p.Gly970Asp) c.2723G>A (p.Gly908Asp) n.3319G>A c.3088+1G>A (n.3088+1G>A) c.3014G>A (p.Gly1005Asp) c.3080G>A (p.Gly1027Asp) c.3013+1G>A (n.3013+1G>A) c.3032G>A (p.Gly1011Asp) c.3016+1G>A (n.3016+1G>A) c.3031+1G>A (n.3031+1G>A) c.2897G>A (p.Gly966Asp) c.2896G>A (p.Val966Met) | |
16 | g.28836123G>C | CA395409989 | ATXN2L | c.3086G>C (p.Gly1029Ala) c.3085+1G>C (n.3085+1G>C) c.1061G>C (p.Gly354Ala) n.3460G>C c.280+1G>C (n.280+1G>C) c.3104G>C (p.Gly1035Ala) c.2150G>C (n.2150G>C) c.354+1G>C c.1064G>C (p.Gly355Ala) c.3107G>C (p.Gly1036Ala) c.3089G>C (p.Gly1030Ala) c.3106+1G>C (n.3106+1G>C) c.3103+1G>C (n.3103+1G>C) c.2927G>C (p.Gly976Ala) c.3035G>C (p.Gly1012Ala) c.3017G>C (p.Gly1006Ala) c.2741G>C (p.Gly914Ala) n.3316G>C c.2909G>C (p.Gly970Ala) c.2723G>C (p.Gly908Ala) n.3319G>C c.3088+1G>C (n.3088+1G>C) c.3014G>C (p.Gly1005Ala) c.3080G>C (p.Gly1027Ala) c.3013+1G>C (n.3013+1G>C) c.3032G>C (p.Gly1011Ala) c.3016+1G>C (n.3016+1G>C) c.3031+1G>C (n.3031+1G>C) c.2897G>C (p.Gly966Ala) c.2896G>C (p.Val966Leu) | |
16 | g.28836123G>T | CA395409990 | ATXN2L | c.3086G>T (p.Gly1029Val) c.3085+1G>T (n.3085+1G>T) c.1061G>T (p.Gly354Val) n.3460G>T c.280+1G>T (n.280+1G>T) c.3104G>T (p.Gly1035Val) c.2150G>T (n.2150G>T) c.354+1G>T c.1064G>T (p.Gly355Val) c.3107G>T (p.Gly1036Val) c.3089G>T (p.Gly1030Val) c.3106+1G>T (n.3106+1G>T) c.3103+1G>T (n.3103+1G>T) c.2927G>T (p.Gly976Val) c.3035G>T (p.Gly1012Val) c.3017G>T (p.Gly1006Val) c.2741G>T (p.Gly914Val) n.3316G>T c.2909G>T (p.Gly970Val) c.2723G>T (p.Gly908Val) n.3319G>T c.3088+1G>T (n.3088+1G>T) c.3014G>T (p.Gly1005Val) c.3080G>T (p.Gly1027Val) c.3013+1G>T (n.3013+1G>T) c.3032G>T (p.Gly1011Val) c.3016+1G>T (n.3016+1G>T) c.3031+1G>T (n.3031+1G>T) c.2897G>T (p.Gly966Val) c.2896G>T (p.Val966Leu) | |
16 | g.28836124T>A | CA395409992 | ATXN2L | c.3087T>A (p.Gly1029=) c.3085+2T>A (n.3085+2T>A) c.1062T>A (p.Gly354=) n.3461T>A c.280+2T>A (n.280+2T>A) c.3105T>A (p.Gly1035=) c.2151T>A (n.2151T>A) c.354+2T>A c.1065T>A (p.Gly355=) c.3108T>A (p.Gly1036=) c.3090T>A (p.Gly1030=) c.3106+2T>A (n.3106+2T>A) c.3103+2T>A (n.3103+2T>A) c.2928T>A (p.Gly976=) c.3036T>A (p.Gly1012=) c.3018T>A (p.Gly1006=) c.2742T>A (p.Gly914=) n.3317T>A c.2910T>A (p.Gly970=) c.2724T>A (p.Gly908=) n.3320T>A c.3088+2T>A (n.3088+2T>A) c.3015T>A (p.Gly1005=) c.3081T>A (p.Gly1027=) c.3013+2T>A (n.3013+2T>A) c.3033T>A (p.Gly1011=) c.3016+2T>A (n.3016+2T>A) c.3031+2T>A (n.3031+2T>A) c.2898T>A (p.Gly966=) c.2897T>A (p.Val966Glu) | |
16 | g.28836124T>C | CA395409994 | ATXN2L | c.3087T>C (p.Gly1029=) c.3085+2T>C (n.3085+2T>C) c.1062T>C (p.Gly354=) n.3461T>C c.280+2T>C (n.280+2T>C) c.3105T>C (p.Gly1035=) c.2151T>C (n.2151T>C) c.354+2T>C c.1065T>C (p.Gly355=) c.3108T>C (p.Gly1036=) c.3090T>C (p.Gly1030=) c.3106+2T>C (n.3106+2T>C) c.3103+2T>C (n.3103+2T>C) c.2928T>C (p.Gly976=) c.3036T>C (p.Gly1012=) c.3018T>C (p.Gly1006=) c.2742T>C (p.Gly914=) n.3317T>C c.2910T>C (p.Gly970=) c.2724T>C (p.Gly908=) n.3320T>C c.3088+2T>C (n.3088+2T>C) c.3015T>C (p.Gly1005=) c.3081T>C (p.Gly1027=) c.3013+2T>C (n.3013+2T>C) c.3033T>C (p.Gly1011=) c.3016+2T>C (n.3016+2T>C) c.3031+2T>C (n.3031+2T>C) c.2898T>C (p.Gly966=) c.2897T>C (p.Val966Ala) | |
16 | g.28836124T>G | CA395409991 | ATXN2L | c.3087T>G (p.Gly1029=) c.3085+2T>G (n.3085+2T>G) c.1062T>G (p.Gly354=) n.3461T>G c.280+2T>G (n.280+2T>G) c.3105T>G (p.Gly1035=) c.2151T>G (n.2151T>G) c.354+2T>G c.1065T>G (p.Gly355=) c.3108T>G (p.Gly1036=) c.3090T>G (p.Gly1030=) c.3106+2T>G (n.3106+2T>G) c.3103+2T>G (n.3103+2T>G) c.2928T>G (p.Gly976=) c.3036T>G (p.Gly1012=) c.3018T>G (p.Gly1006=) c.2742T>G (p.Gly914=) n.3317T>G c.2910T>G (p.Gly970=) c.2724T>G (p.Gly908=) n.3320T>G c.3088+2T>G (n.3088+2T>G) c.3015T>G (p.Gly1005=) c.3081T>G (p.Gly1027=) c.3013+2T>G (n.3013+2T>G) c.3033T>G (p.Gly1011=) c.3016+2T>G (n.3016+2T>G) c.3031+2T>G (n.3031+2T>G) c.2898T>G (p.Gly966=) c.2897T>G (p.Val966Gly) | |
16 | g.28836125G>A | CA395409995 | ATXN2L | c.3088G>A (p.Glu1030Lys) c.3085+3G>A (n.3085+3G>A) c.1063G>A (p.Glu355Lys) n.3462G>A c.280+3G>A (n.280+3G>A) c.3106G>A (p.Glu1036Lys) c.2152G>A (n.2152G>A) c.354+3G>A c.1066G>A (p.Glu356Lys) c.3109G>A (p.Glu1037Lys) c.3091G>A (p.Glu1031Lys) c.3106+3G>A (n.3106+3G>A) c.3103+3G>A (n.3103+3G>A) c.2929G>A (p.Glu977Lys) c.3037G>A (p.Glu1013Lys) c.3019G>A (p.Glu1007Lys) c.2743G>A (p.Glu915Lys) n.3318G>A c.2911G>A (p.Glu971Lys) c.2725G>A (p.Glu909Lys) n.3321G>A c.3088+3G>A (n.3088+3G>A) c.3016G>A (p.Glu1006Lys) c.3082G>A (p.Glu1028Lys) c.3013+3G>A (n.3013+3G>A) c.3034G>A (p.Glu1012Lys) c.3016+3G>A (n.3016+3G>A) c.3031+3G>A (n.3031+3G>A) c.2899G>A (p.Glu967Lys) c.2898G>A (p.Val966=) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28836125G>C | CA395409996 | ATXN2L | c.3088G>C (p.Glu1030Gln) c.3085+3G>C (n.3085+3G>C) c.1063G>C (p.Glu355Gln) n.3462G>C c.280+3G>C (n.280+3G>C) c.3106G>C (p.Glu1036Gln) c.2152G>C (n.2152G>C) c.354+3G>C c.1066G>C (p.Glu356Gln) c.3109G>C (p.Glu1037Gln) c.3091G>C (p.Glu1031Gln) c.3106+3G>C (n.3106+3G>C) c.3103+3G>C (n.3103+3G>C) c.2929G>C (p.Glu977Gln) c.3037G>C (p.Glu1013Gln) c.3019G>C (p.Glu1007Gln) c.2743G>C (p.Glu915Gln) n.3318G>C c.2911G>C (p.Glu971Gln) c.2725G>C (p.Glu909Gln) n.3321G>C c.3088+3G>C (n.3088+3G>C) c.3016G>C (p.Glu1006Gln) c.3082G>C (p.Glu1028Gln) c.3013+3G>C (n.3013+3G>C) c.3034G>C (p.Glu1012Gln) c.3016+3G>C (n.3016+3G>C) c.3031+3G>C (n.3031+3G>C) c.2899G>C (p.Glu967Gln) c.2898G>C (p.Val966=) | |
16 | g.28836125G>T | CA395409998 | ATXN2L | c.3088G>T (p.Glu1030Ter) c.3085+3G>T (n.3085+3G>T) c.1063G>T (p.Glu355Ter) n.3462G>T c.280+3G>T (n.280+3G>T) c.3106G>T (p.Glu1036Ter) c.2152G>T (n.2152G>T) c.354+3G>T c.1066G>T (p.Glu356Ter) c.3109G>T (p.Glu1037Ter) c.3091G>T (p.Glu1031Ter) c.3106+3G>T (n.3106+3G>T) c.3103+3G>T (n.3103+3G>T) c.2929G>T (p.Glu977Ter) c.3037G>T (p.Glu1013Ter) c.3019G>T (p.Glu1007Ter) c.2743G>T (p.Glu915Ter) n.3318G>T c.2911G>T (p.Glu971Ter) c.2725G>T (p.Glu909Ter) n.3321G>T c.3088+3G>T (n.3088+3G>T) c.3016G>T (p.Glu1006Ter) c.3082G>T (p.Glu1028Ter) c.3013+3G>T (n.3013+3G>T) c.3034G>T (p.Glu1012Ter) c.3016+3G>T (n.3016+3G>T) c.3031+3G>T (n.3031+3G>T) c.2899G>T (p.Glu967Ter) c.2898G>T (p.Val966=) | |
16 | g.28836126A>C | CA395410001 | ATXN2L | c.3089A>C (p.Glu1030Ala) c.3085+4A>C (n.3085+4A>C) c.1064A>C (p.Glu355Ala) n.3463A>C c.280+4A>C (n.280+4A>C) c.3107A>C (p.Glu1036Ala) c.2153A>C (n.2153A>C) c.354+4A>C c.1067A>C (p.Glu356Ala) c.3110A>C (p.Glu1037Ala) c.3092A>C (p.Glu1031Ala) c.3106+4A>C (n.3106+4A>C) c.3103+4A>C (n.3103+4A>C) c.2930A>C (p.Glu977Ala) c.3038A>C (p.Glu1013Ala) c.3020A>C (p.Glu1007Ala) c.2744A>C (p.Glu915Ala) n.3319A>C c.2912A>C (p.Glu971Ala) c.2726A>C (p.Glu909Ala) n.3322A>C c.3088+4A>C (n.3088+4A>C) c.3017A>C (p.Glu1006Ala) c.3083A>C (p.Glu1028Ala) c.3013+4A>C (n.3013+4A>C) c.3035A>C (p.Glu1012Ala) c.3016+4A>C (n.3016+4A>C) c.3031+4A>C (n.3031+4A>C) c.2900A>C (p.Glu967Ala) c.2899A>C (p.Ser967Arg) | |
16 | g.28836126A>G | CA395410002 | ATXN2L | c.3089A>G (p.Glu1030Gly) c.3085+4A>G (n.3085+4A>G) c.1064A>G (p.Glu355Gly) n.3463A>G c.280+4A>G (n.280+4A>G) c.3107A>G (p.Glu1036Gly) c.2153A>G (n.2153A>G) c.354+4A>G c.1067A>G (p.Glu356Gly) c.3110A>G (p.Glu1037Gly) c.3092A>G (p.Glu1031Gly) c.3106+4A>G (n.3106+4A>G) c.3103+4A>G (n.3103+4A>G) c.2930A>G (p.Glu977Gly) c.3038A>G (p.Glu1013Gly) c.3020A>G (p.Glu1007Gly) c.2744A>G (p.Glu915Gly) n.3319A>G c.2912A>G (p.Glu971Gly) c.2726A>G (p.Glu909Gly) n.3322A>G c.3088+4A>G (n.3088+4A>G) c.3017A>G (p.Glu1006Gly) c.3083A>G (p.Glu1028Gly) c.3013+4A>G (n.3013+4A>G) c.3035A>G (p.Glu1012Gly) c.3016+4A>G (n.3016+4A>G) c.3031+4A>G (n.3031+4A>G) c.2900A>G (p.Glu967Gly) c.2899A>G (p.Ser967Gly) | |
16 | g.28836126A>T | CA395410004 | ATXN2L | c.3089A>T (p.Glu1030Val) c.3085+4A>T (n.3085+4A>T) c.1064A>T (p.Glu355Val) n.3463A>T c.280+4A>T (n.280+4A>T) c.3107A>T (p.Glu1036Val) c.2153A>T (n.2153A>T) c.354+4A>T c.1067A>T (p.Glu356Val) c.3110A>T (p.Glu1037Val) c.3092A>T (p.Glu1031Val) c.3106+4A>T (n.3106+4A>T) c.3103+4A>T (n.3103+4A>T) c.2930A>T (p.Glu977Val) c.3038A>T (p.Glu1013Val) c.3020A>T (p.Glu1007Val) c.2744A>T (p.Glu915Val) n.3319A>T c.2912A>T (p.Glu971Val) c.2726A>T (p.Glu909Val) n.3322A>T c.3088+4A>T (n.3088+4A>T) c.3017A>T (p.Glu1006Val) c.3083A>T (p.Glu1028Val) c.3013+4A>T (n.3013+4A>T) c.3035A>T (p.Glu1012Val) c.3016+4A>T (n.3016+4A>T) c.3031+4A>T (n.3031+4A>T) c.2900A>T (p.Glu967Val) c.2899A>T (p.Ser967Cys) | |
16 | g.28836127G>A | CA494868790 | ATXN2L | c.3090G>A (p.Glu1030=) c.3085+5G>A (n.3085+5G>A) c.1065G>A (p.Glu355=) n.3464G>A c.280+5G>A (n.280+5G>A) c.3108G>A (p.Glu1036=) c.2154G>A (n.2154G>A) c.354+5G>A c.1068G>A (p.Glu356=) c.3111G>A (p.Glu1037=) c.3093G>A (p.Glu1031=) c.3106+5G>A (n.3106+5G>A) c.3103+5G>A (n.3103+5G>A) c.2931G>A (p.Glu977=) c.3039G>A (p.Glu1013=) c.3021G>A (p.Glu1007=) c.2745G>A (p.Glu915=) n.3320G>A c.2913G>A (p.Glu971=) c.2727G>A (p.Glu909=) n.3323G>A c.3088+5G>A (n.3088+5G>A) c.3018G>A (p.Glu1006=) c.3084G>A (p.Glu1028=) c.3013+5G>A (n.3013+5G>A) c.3036G>A (p.Glu1012=) c.3016+5G>A (n.3016+5G>A) c.3031+5G>A (n.3031+5G>A) c.2901G>A (p.Glu967=) c.2900G>A (p.Ser967Asn) | |
16 | g.28836127G>C | CA395410006 | ATXN2L | c.3090G>C (p.Glu1030Asp) c.3085+5G>C (n.3085+5G>C) c.1065G>C (p.Glu355Asp) n.3464G>C c.280+5G>C (n.280+5G>C) c.3108G>C (p.Glu1036Asp) c.2154G>C (n.2154G>C) c.354+5G>C c.1068G>C (p.Glu356Asp) c.3111G>C (p.Glu1037Asp) c.3093G>C (p.Glu1031Asp) c.3106+5G>C (n.3106+5G>C) c.3103+5G>C (n.3103+5G>C) c.2931G>C (p.Glu977Asp) c.3039G>C (p.Glu1013Asp) c.3021G>C (p.Glu1007Asp) c.2745G>C (p.Glu915Asp) n.3320G>C c.2913G>C (p.Glu971Asp) c.2727G>C (p.Glu909Asp) n.3323G>C c.3088+5G>C (n.3088+5G>C) c.3018G>C (p.Glu1006Asp) c.3084G>C (p.Glu1028Asp) c.3013+5G>C (n.3013+5G>C) c.3036G>C (p.Glu1012Asp) c.3016+5G>C (n.3016+5G>C) c.3031+5G>C (n.3031+5G>C) c.2901G>C (p.Glu967Asp) c.2900G>C (p.Ser967Thr) | |
16 | g.28836127G>T | CA395410015 | ATXN2L | c.3090G>T (p.Glu1030Asp) c.3085+5G>T (n.3085+5G>T) c.1065G>T (p.Glu355Asp) n.3464G>T c.280+5G>T (n.280+5G>T) c.3108G>T (p.Glu1036Asp) c.2154G>T (n.2154G>T) c.354+5G>T c.1068G>T (p.Glu356Asp) c.3111G>T (p.Glu1037Asp) c.3093G>T (p.Glu1031Asp) c.3106+5G>T (n.3106+5G>T) c.3103+5G>T (n.3103+5G>T) c.2931G>T (p.Glu977Asp) c.3039G>T (p.Glu1013Asp) c.3021G>T (p.Glu1007Asp) c.2745G>T (p.Glu915Asp) n.3320G>T c.2913G>T (p.Glu971Asp) c.2727G>T (p.Glu909Asp) n.3323G>T c.3088+5G>T (n.3088+5G>T) c.3018G>T (p.Glu1006Asp) c.3084G>T (p.Glu1028Asp) c.3013+5G>T (n.3013+5G>T) c.3036G>T (p.Glu1012Asp) c.3016+5G>T (n.3016+5G>T) c.3031+5G>T (n.3031+5G>T) c.2901G>T (p.Glu967Asp) c.2900G>T (p.Ser967Ile) | |
16 | g.28836128C>A | CA395410017 | ATXN2L | c.3091C>A (p.Gln1031Lys) c.3085+6C>A (n.3085+6C>A) c.1066C>A (p.Gln356Lys) n.3465C>A c.280+6C>A (n.280+6C>A) c.3109C>A (p.Gln1037Lys) c.2155C>A (n.2155C>A) c.354+6C>A c.1069C>A (p.Gln357Lys) c.3112C>A (p.Gln1038Lys) c.3094C>A (p.Gln1032Lys) c.3106+6C>A (n.3106+6C>A) c.3103+6C>A (n.3103+6C>A) c.2932C>A (p.Gln978Lys) c.3040C>A (p.Gln1014Lys) c.3022C>A (p.Gln1008Lys) c.2746C>A (p.Gln916Lys) n.3321C>A c.2914C>A (p.Gln972Lys) c.2728C>A (p.Gln910Lys) n.3324C>A c.3088+6C>A (n.3088+6C>A) c.3019C>A (p.Gln1007Lys) c.3085C>A (p.Gln1029Lys) c.3013+6C>A (n.3013+6C>A) c.3037C>A (p.Gln1013Lys) c.3016+6C>A (n.3016+6C>A) c.3031+6C>A (n.3031+6C>A) c.2902C>A (p.Gln968Lys) c.2901C>A (p.Ser967Arg) | |
16 | g.28836128C>G | CA395410019 | ATXN2L | c.3091C>G (p.Gln1031Glu) c.3085+6C>G (n.3085+6C>G) c.1066C>G (p.Gln356Glu) n.3465C>G c.280+6C>G (n.280+6C>G) c.3109C>G (p.Gln1037Glu) c.2155C>G (n.2155C>G) c.354+6C>G c.1069C>G (p.Gln357Glu) c.3112C>G (p.Gln1038Glu) c.3094C>G (p.Gln1032Glu) c.3106+6C>G (n.3106+6C>G) c.3103+6C>G (n.3103+6C>G) c.2932C>G (p.Gln978Glu) c.3040C>G (p.Gln1014Glu) c.3022C>G (p.Gln1008Glu) c.2746C>G (p.Gln916Glu) n.3321C>G c.2914C>G (p.Gln972Glu) c.2728C>G (p.Gln910Glu) n.3324C>G c.3088+6C>G (n.3088+6C>G) c.3019C>G (p.Gln1007Glu) c.3085C>G (p.Gln1029Glu) c.3013+6C>G (n.3013+6C>G) c.3037C>G (p.Gln1013Glu) c.3016+6C>G (n.3016+6C>G) c.3031+6C>G (n.3031+6C>G) c.2902C>G (p.Gln968Glu) c.2901C>G (p.Ser967Arg) | |
16 | g.28836128C>T | CA395410021 | ATXN2L | c.3091C>T (p.Gln1031Ter) c.3085+6C>T (n.3085+6C>T) c.1066C>T (p.Gln356Ter) n.3465C>T c.280+6C>T (n.280+6C>T) c.3109C>T (p.Gln1037Ter) c.2155C>T (n.2155C>T) c.354+6C>T c.1069C>T (p.Gln357Ter) c.3112C>T (p.Gln1038Ter) c.3094C>T (p.Gln1032Ter) c.3106+6C>T (n.3106+6C>T) c.3103+6C>T (n.3103+6C>T) c.2932C>T (p.Gln978Ter) c.3040C>T (p.Gln1014Ter) c.3022C>T (p.Gln1008Ter) c.2746C>T (p.Gln916Ter) n.3321C>T c.2914C>T (p.Gln972Ter) c.2728C>T (p.Gln910Ter) n.3324C>T c.3088+6C>T (n.3088+6C>T) c.3019C>T (p.Gln1007Ter) c.3085C>T (p.Gln1029Ter) c.3013+6C>T (n.3013+6C>T) c.3037C>T (p.Gln1013Ter) c.3016+6C>T (n.3016+6C>T) c.3031+6C>T (n.3031+6C>T) c.2902C>T (p.Gln968Ter) c.2901C>T (p.Ser967=) | |
16 | g.28836129A>C | CA395410023 | ATXN2L | c.3092A>C (p.Gln1031Pro) c.3085+7A>C (n.3085+7A>C) c.1067A>C (p.Gln356Pro) n.3466A>C c.280+7A>C (n.280+7A>C) c.3110A>C (p.Gln1037Pro) c.2156A>C (n.2156A>C) c.354+7A>C c.1070A>C (p.Gln357Pro) c.3113A>C (p.Gln1038Pro) c.3095A>C (p.Gln1032Pro) c.3106+7A>C (n.3106+7A>C) c.3103+7A>C (n.3103+7A>C) c.2933A>C (p.Gln978Pro) c.3041A>C (p.Gln1014Pro) c.3023A>C (p.Gln1008Pro) c.2747A>C (p.Gln916Pro) n.3322A>C c.2915A>C (p.Gln972Pro) c.2729A>C (p.Gln910Pro) n.3325A>C c.3088+7A>C (n.3088+7A>C) c.3020A>C (p.Gln1007Pro) c.3086A>C (p.Gln1029Pro) c.3013+7A>C (n.3013+7A>C) c.3038A>C (p.Gln1013Pro) c.3016+7A>C (n.3016+7A>C) c.3031+7A>C (n.3031+7A>C) c.2903A>C (p.Gln968Pro) c.2902A>C (p.Ser968Arg) | gnomAD v4 |
16 | g.28836129A>G | CA395410025 | ATXN2L | c.3092A>G (p.Gln1031Arg) c.3085+7A>G (n.3085+7A>G) c.1067A>G (p.Gln356Arg) n.3466A>G c.280+7A>G (n.280+7A>G) c.3110A>G (p.Gln1037Arg) c.2156A>G (n.2156A>G) c.354+7A>G c.1070A>G (p.Gln357Arg) c.3113A>G (p.Gln1038Arg) c.3095A>G (p.Gln1032Arg) c.3106+7A>G (n.3106+7A>G) c.3103+7A>G (n.3103+7A>G) c.2933A>G (p.Gln978Arg) c.3041A>G (p.Gln1014Arg) c.3023A>G (p.Gln1008Arg) c.2747A>G (p.Gln916Arg) n.3322A>G c.2915A>G (p.Gln972Arg) c.2729A>G (p.Gln910Arg) n.3325A>G c.3088+7A>G (n.3088+7A>G) c.3020A>G (p.Gln1007Arg) c.3086A>G (p.Gln1029Arg) c.3013+7A>G (n.3013+7A>G) c.3038A>G (p.Gln1013Arg) c.3016+7A>G (n.3016+7A>G) c.3031+7A>G (n.3031+7A>G) c.2903A>G (p.Gln968Arg) c.2902A>G (p.Ser968Gly) | |
16 | g.28836129A>T | CA395410027 | ATXN2L | c.3092A>T (p.Gln1031Leu) c.3085+7A>T (n.3085+7A>T) c.1067A>T (p.Gln356Leu) n.3466A>T c.280+7A>T (n.280+7A>T) c.3110A>T (p.Gln1037Leu) c.2156A>T (n.2156A>T) c.354+7A>T c.1070A>T (p.Gln357Leu) c.3113A>T (p.Gln1038Leu) c.3095A>T (p.Gln1032Leu) c.3106+7A>T (n.3106+7A>T) c.3103+7A>T (n.3103+7A>T) c.2933A>T (p.Gln978Leu) c.3041A>T (p.Gln1014Leu) c.3023A>T (p.Gln1008Leu) c.2747A>T (p.Gln916Leu) n.3322A>T c.2915A>T (p.Gln972Leu) c.2729A>T (p.Gln910Leu) n.3325A>T c.3088+7A>T (n.3088+7A>T) c.3020A>T (p.Gln1007Leu) c.3086A>T (p.Gln1029Leu) c.3013+7A>T (n.3013+7A>T) c.3038A>T (p.Gln1013Leu) c.3016+7A>T (n.3016+7A>T) c.3031+7A>T (n.3031+7A>T) c.2903A>T (p.Gln968Leu) c.2902A>T (p.Ser968Cys) | |
16 | g.28836130G>A | CA7985174 | ATXN2L | c.3093G>A (p.Gln1031=) c.3085+8G>A (n.3085+8G>A) c.1068G>A (p.Gln356=) n.3467G>A c.280+8G>A (n.280+8G>A) c.3111G>A (p.Gln1037=) c.2157G>A (n.2157G>A) c.354+8G>A c.1071G>A (p.Gln357=) c.3114G>A (p.Gln1038=) c.3096G>A (p.Gln1032=) c.3106+8G>A (n.3106+8G>A) c.3103+8G>A (n.3103+8G>A) c.2934G>A (p.Gln978=) c.3042G>A (p.Gln1014=) c.3024G>A (p.Gln1008=) c.2748G>A (p.Gln916=) n.3323G>A c.2916G>A (p.Gln972=) c.2730G>A (p.Gln910=) n.3326G>A c.3088+8G>A (n.3088+8G>A) c.3021G>A (p.Gln1007=) c.3087G>A (p.Gln1029=) c.3013+8G>A (n.3013+8G>A) c.3039G>A (p.Gln1013=) c.3016+8G>A (n.3016+8G>A) c.3031+8G>A (n.3031+8G>A) c.2904G>A (p.Gln968=) c.2903G>A (p.Ser968Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836130G>C | CA395410031 | ATXN2L | c.3093G>C (p.Gln1031His) c.3085+8G>C (n.3085+8G>C) c.1068G>C (p.Gln356His) n.3467G>C c.280+8G>C (n.280+8G>C) c.3111G>C (p.Gln1037His) c.2157G>C (n.2157G>C) c.354+8G>C c.1071G>C (p.Gln357His) c.3114G>C (p.Gln1038His) c.3096G>C (p.Gln1032His) c.3106+8G>C (n.3106+8G>C) c.3103+8G>C (n.3103+8G>C) c.2934G>C (p.Gln978His) c.3042G>C (p.Gln1014His) c.3024G>C (p.Gln1008His) c.2748G>C (p.Gln916His) n.3323G>C c.2916G>C (p.Gln972His) c.2730G>C (p.Gln910His) n.3326G>C c.3088+8G>C (n.3088+8G>C) c.3021G>C (p.Gln1007His) c.3087G>C (p.Gln1029His) c.3013+8G>C (n.3013+8G>C) c.3039G>C (p.Gln1013His) c.3016+8G>C (n.3016+8G>C) c.3031+8G>C (n.3031+8G>C) c.2904G>C (p.Gln968His) c.2903G>C (p.Ser968Thr) | |
16 | g.28836130G= | CA2215806983 | ATXN2L | c.3093G= (p.Gln1031=) c.3085+8G= (n.3085+8G=) c.1068G= (p.Gln356=) n.3467G= c.280+8G= (n.280+8G=) c.3111G= (p.Gln1037=) c.2157G= (n.2157G=) c.354+8G= c.1071G= (p.Gln357=) c.3114G= (p.Gln1038=) c.3096G= (p.Gln1032=) c.3106+8G= (n.3106+8G=) c.3103+8G= (n.3103+8G=) c.2934G= (p.Gln978=) c.3042G= (p.Gln1014=) c.3024G= (p.Gln1008=) c.2748G= (p.Gln916=) n.3323G= c.2916G= (p.Gln972=) c.2730G= (p.Gln910=) n.3326G= c.3088+8G= (n.3088+8G=) c.3021G= (p.Gln1007=) c.3087G= (p.Gln1029=) c.3013+8G= (n.3013+8G=) c.3039G= (p.Gln1013=) c.3016+8G= (n.3016+8G=) c.3031+8G= (n.3031+8G=) c.2904G= (p.Gln968=) c.2903G= (p.Ser968=) | |
16 | g.28836130G>T | CA395410029 | ATXN2L | c.3093G>T (p.Gln1031His) c.3085+8G>T (n.3085+8G>T) c.1068G>T (p.Gln356His) n.3467G>T c.280+8G>T (n.280+8G>T) c.3111G>T (p.Gln1037His) c.2157G>T (n.2157G>T) c.354+8G>T c.1071G>T (p.Gln357His) c.3114G>T (p.Gln1038His) c.3096G>T (p.Gln1032His) c.3106+8G>T (n.3106+8G>T) c.3103+8G>T (n.3103+8G>T) c.2934G>T (p.Gln978His) c.3042G>T (p.Gln1014His) c.3024G>T (p.Gln1008His) c.2748G>T (p.Gln916His) n.3323G>T c.2916G>T (p.Gln972His) c.2730G>T (p.Gln910His) n.3326G>T c.3088+8G>T (n.3088+8G>T) c.3021G>T (p.Gln1007His) c.3087G>T (p.Gln1029His) c.3013+8G>T (n.3013+8G>T) c.3039G>T (p.Gln1013His) c.3016+8G>T (n.3016+8G>T) c.3031+8G>T (n.3031+8G>T) c.2904G>T (p.Gln968His) c.2903G>T (p.Ser968Ile) | |
16 | g.28836131C>A | CA395410033 | ATXN2L | c.3094C>A (p.Pro1032Thr) c.3085+9C>A (n.3085+9C>A) c.1069C>A (p.Pro357Thr) n.3468C>A c.280+9C>A (n.280+9C>A) c.3112C>A (p.Pro1038Thr) c.2158C>A (n.2158C>A) c.354+9C>A c.1072C>A (p.Pro358Thr) c.3115C>A (p.Pro1039Thr) c.3097C>A (p.Pro1033Thr) c.3106+9C>A (n.3106+9C>A) c.3103+9C>A (n.3103+9C>A) c.2935C>A (p.Pro979Thr) c.3043C>A (p.Pro1015Thr) c.3025C>A (p.Pro1009Thr) c.2749C>A (p.Pro917Thr) n.3324C>A c.2917C>A (p.Pro973Thr) c.2731C>A (p.Pro911Thr) n.3327C>A c.3088+9C>A (n.3088+9C>A) c.3022C>A (p.Pro1008Thr) c.3088C>A (p.Pro1030Thr) c.3013+9C>A (n.3013+9C>A) c.3040C>A (p.Pro1014Thr) c.3016+9C>A (n.3016+9C>A) c.3031+9C>A (n.3031+9C>A) c.2905C>A (p.Pro969Thr) c.2904C>A (p.Ser968Arg) | |
16 | g.28836131C>G | CA395410035 | ATXN2L | c.3094C>G (p.Pro1032Ala) c.3085+9C>G (n.3085+9C>G) c.1069C>G (p.Pro357Ala) n.3468C>G c.280+9C>G (n.280+9C>G) c.3112C>G (p.Pro1038Ala) c.2158C>G (n.2158C>G) c.354+9C>G c.1072C>G (p.Pro358Ala) c.3115C>G (p.Pro1039Ala) c.3097C>G (p.Pro1033Ala) c.3106+9C>G (n.3106+9C>G) c.3103+9C>G (n.3103+9C>G) c.2935C>G (p.Pro979Ala) c.3043C>G (p.Pro1015Ala) c.3025C>G (p.Pro1009Ala) c.2749C>G (p.Pro917Ala) n.3324C>G c.2917C>G (p.Pro973Ala) c.2731C>G (p.Pro911Ala) n.3327C>G c.3088+9C>G (n.3088+9C>G) c.3022C>G (p.Pro1008Ala) c.3088C>G (p.Pro1030Ala) c.3013+9C>G (n.3013+9C>G) c.3040C>G (p.Pro1014Ala) c.3016+9C>G (n.3016+9C>G) c.3031+9C>G (n.3031+9C>G) c.2905C>G (p.Pro969Ala) c.2904C>G (p.Ser968Arg) | |
16 | g.28836131C>T | CA395410037 | ATXN2L | c.3094C>T (p.Pro1032Ser) c.3085+9C>T (n.3085+9C>T) c.1069C>T (p.Pro357Ser) n.3468C>T c.280+9C>T (n.280+9C>T) c.3112C>T (p.Pro1038Ser) c.2158C>T (n.2158C>T) c.354+9C>T c.1072C>T (p.Pro358Ser) c.3115C>T (p.Pro1039Ser) c.3097C>T (p.Pro1033Ser) c.3106+9C>T (n.3106+9C>T) c.3103+9C>T (n.3103+9C>T) c.2935C>T (p.Pro979Ser) c.3043C>T (p.Pro1015Ser) c.3025C>T (p.Pro1009Ser) c.2749C>T (p.Pro917Ser) n.3324C>T c.2917C>T (p.Pro973Ser) c.2731C>T (p.Pro911Ser) n.3327C>T c.3088+9C>T (n.3088+9C>T) c.3022C>T (p.Pro1008Ser) c.3088C>T (p.Pro1030Ser) c.3013+9C>T (n.3013+9C>T) c.3040C>T (p.Pro1014Ser) c.3016+9C>T (n.3016+9C>T) c.3031+9C>T (n.3031+9C>T) c.2905C>T (p.Pro969Ser) c.2904C>T (p.Ser968=) | |
16 | g.28836132C>A | CA395410039 | ATXN2L | c.3095C>A (p.Pro1032His) c.3085+10C>A (n.3085+10C>A) c.1070C>A (p.Pro357His) n.3469C>A c.280+10C>A (n.280+10C>A) c.3113C>A (p.Pro1038His) c.2159C>A (n.2159C>A) c.354+10C>A c.1073C>A (p.Pro358His) c.3116C>A (p.Pro1039His) c.3098C>A (p.Pro1033His) c.3106+10C>A (n.3106+10C>A) c.3103+10C>A (n.3103+10C>A) c.2936C>A (p.Pro979His) c.3044C>A (p.Pro1015His) c.3026C>A (p.Pro1009His) c.2750C>A (p.Pro917His) n.3325C>A c.2918C>A (p.Pro973His) c.2732C>A (p.Pro911His) n.3328C>A c.3088+10C>A (n.3088+10C>A) c.3023C>A (p.Pro1008His) c.3089C>A (p.Pro1030His) c.3013+10C>A (n.3013+10C>A) c.3041C>A (p.Pro1014His) c.3016+10C>A (n.3016+10C>A) c.3031+10C>A (n.3031+10C>A) c.2906C>A (p.Pro969His) c.2905C>A (p.Leu969Met) | |
16 | g.28836132C>G | CA395410040 | ATXN2L | c.3095C>G (p.Pro1032Arg) c.3085+10C>G (n.3085+10C>G) c.1070C>G (p.Pro357Arg) n.3469C>G c.280+10C>G (n.280+10C>G) c.3113C>G (p.Pro1038Arg) c.2159C>G (n.2159C>G) c.354+10C>G c.1073C>G (p.Pro358Arg) c.3116C>G (p.Pro1039Arg) c.3098C>G (p.Pro1033Arg) c.3106+10C>G (n.3106+10C>G) c.3103+10C>G (n.3103+10C>G) c.2936C>G (p.Pro979Arg) c.3044C>G (p.Pro1015Arg) c.3026C>G (p.Pro1009Arg) c.2750C>G (p.Pro917Arg) n.3325C>G c.2918C>G (p.Pro973Arg) c.2732C>G (p.Pro911Arg) n.3328C>G c.3088+10C>G (n.3088+10C>G) c.3023C>G (p.Pro1008Arg) c.3089C>G (p.Pro1030Arg) c.3013+10C>G (n.3013+10C>G) c.3041C>G (p.Pro1014Arg) c.3016+10C>G (n.3016+10C>G) c.3031+10C>G (n.3031+10C>G) c.2906C>G (p.Pro969Arg) c.2905C>G (p.Leu969Val) | |
16 | g.28836132C>T | CA395410042 | ATXN2L | c.3095C>T (p.Pro1032Leu) c.3085+10C>T (n.3085+10C>T) c.1070C>T (p.Pro357Leu) n.3469C>T c.280+10C>T (n.280+10C>T) c.3113C>T (p.Pro1038Leu) c.2159C>T (n.2159C>T) c.354+10C>T c.1073C>T (p.Pro358Leu) c.3116C>T (p.Pro1039Leu) c.3098C>T (p.Pro1033Leu) c.3106+10C>T (n.3106+10C>T) c.3103+10C>T (n.3103+10C>T) c.2936C>T (p.Pro979Leu) c.3044C>T (p.Pro1015Leu) c.3026C>T (p.Pro1009Leu) c.2750C>T (p.Pro917Leu) n.3325C>T c.2918C>T (p.Pro973Leu) c.2732C>T (p.Pro911Leu) n.3328C>T c.3088+10C>T (n.3088+10C>T) c.3023C>T (p.Pro1008Leu) c.3089C>T (p.Pro1030Leu) c.3013+10C>T (n.3013+10C>T) c.3041C>T (p.Pro1014Leu) c.3016+10C>T (n.3016+10C>T) c.3031+10C>T (n.3031+10C>T) c.2906C>T (p.Pro969Leu) c.2905C>T (p.Leu969=) | |
16 | g.28836133T>A | CA494868861 | ATXN2L | c.3096T>A (p.Pro1032=) c.3085+11T>A (n.3085+11T>A) c.1071T>A (p.Pro357=) n.3470T>A c.280+11T>A (n.280+11T>A) c.3114T>A (p.Pro1038=) c.2160T>A (n.2160T>A) c.354+11T>A c.1074T>A (p.Pro358=) c.3117T>A (p.Pro1039=) c.3099T>A (p.Pro1033=) c.3106+11T>A (n.3106+11T>A) c.3103+11T>A (n.3103+11T>A) c.2937T>A (p.Pro979=) c.3045T>A (p.Pro1015=) c.3027T>A (p.Pro1009=) c.2751T>A (p.Pro917=) n.3326T>A c.2919T>A (p.Pro973=) c.2733T>A (p.Pro911=) n.3329T>A c.3088+11T>A (n.3088+11T>A) c.3024T>A (p.Pro1008=) c.3090T>A (p.Pro1030=) c.3013+11T>A (n.3013+11T>A) c.3042T>A (p.Pro1014=) c.3016+11T>A (n.3016+11T>A) c.3031+11T>A (n.3031+11T>A) c.2907T>A (p.Pro969=) c.2906T>A (p.Leu969Gln) | |
16 | g.28836133T>C | CA494868864 | ATXN2L | c.3096T>C (p.Pro1032=) c.3085+11T>C (n.3085+11T>C) c.1071T>C (p.Pro357=) n.3470T>C c.280+11T>C (n.280+11T>C) c.3114T>C (p.Pro1038=) c.2160T>C (n.2160T>C) c.354+11T>C c.1074T>C (p.Pro358=) c.3117T>C (p.Pro1039=) c.3099T>C (p.Pro1033=) c.3106+11T>C (n.3106+11T>C) c.3103+11T>C (n.3103+11T>C) c.2937T>C (p.Pro979=) c.3045T>C (p.Pro1015=) c.3027T>C (p.Pro1009=) c.2751T>C (p.Pro917=) n.3326T>C c.2919T>C (p.Pro973=) c.2733T>C (p.Pro911=) n.3329T>C c.3088+11T>C (n.3088+11T>C) c.3024T>C (p.Pro1008=) c.3090T>C (p.Pro1030=) c.3013+11T>C (n.3013+11T>C) c.3042T>C (p.Pro1014=) c.3016+11T>C (n.3016+11T>C) c.3031+11T>C (n.3031+11T>C) c.2907T>C (p.Pro969=) c.2906T>C (p.Leu969Pro) | gnomAD v4 |
16 | g.28836133T>G | CA494868868 | ATXN2L | c.3096T>G (p.Pro1032=) c.3085+11T>G (n.3085+11T>G) c.1071T>G (p.Pro357=) n.3470T>G c.280+11T>G (n.280+11T>G) c.3114T>G (p.Pro1038=) c.2160T>G (n.2160T>G) c.354+11T>G c.1074T>G (p.Pro358=) c.3117T>G (p.Pro1039=) c.3099T>G (p.Pro1033=) c.3106+11T>G (n.3106+11T>G) c.3103+11T>G (n.3103+11T>G) c.2937T>G (p.Pro979=) c.3045T>G (p.Pro1015=) c.3027T>G (p.Pro1009=) c.2751T>G (p.Pro917=) n.3326T>G c.2919T>G (p.Pro973=) c.2733T>G (p.Pro911=) n.3329T>G c.3088+11T>G (n.3088+11T>G) c.3024T>G (p.Pro1008=) c.3090T>G (p.Pro1030=) c.3013+11T>G (n.3013+11T>G) c.3042T>G (p.Pro1014=) c.3016+11T>G (n.3016+11T>G) c.3031+11T>G (n.3031+11T>G) c.2907T>G (p.Pro969=) c.2906T>G (p.Leu969Arg) | dbSNP |
16 | g.28836133T= | CA2215806988 | ATXN2L | c.3096T= (p.Pro1032=) c.3085+11T= (n.3085+11T=) c.1071T= (p.Pro357=) n.3470T= c.280+11T= (n.280+11T=) c.3114T= (p.Pro1038=) c.2160T= (n.2160T=) c.354+11T= c.1074T= (p.Pro358=) c.3117T= (p.Pro1039=) c.3099T= (p.Pro1033=) c.3106+11T= (n.3106+11T=) c.3103+11T= (n.3103+11T=) c.2937T= (p.Pro979=) c.3045T= (p.Pro1015=) c.3027T= (p.Pro1009=) c.2751T= (p.Pro917=) n.3326T= c.2919T= (p.Pro973=) c.2733T= (p.Pro911=) n.3329T= c.3088+11T= (n.3088+11T=) c.3024T= (p.Pro1008=) c.3090T= (p.Pro1030=) c.3013+11T= (n.3013+11T=) c.3042T= (p.Pro1014=) c.3016+11T= (n.3016+11T=) c.3031+11T= (n.3031+11T=) c.2907T= (p.Pro969=) c.2906T= (p.Leu969=) | |
16 | g.28836134G>A | CA395410044 | ATXN2L | c.3097G>A (p.Gly1033Ser) c.3085+12G>A (n.3085+12G>A) c.1072G>A (p.Gly358Ser) n.3471G>A c.280+12G>A (n.280+12G>A) c.3115G>A (p.Gly1039Ser) c.2161G>A (n.2161G>A) c.354+12G>A c.1075G>A (p.Gly359Ser) c.3118G>A (p.Gly1040Ser) c.3100G>A (p.Gly1034Ser) c.3106+12G>A (n.3106+12G>A) c.3103+12G>A (n.3103+12G>A) c.2938G>A (p.Gly980Ser) c.3046G>A (p.Gly1016Ser) c.3028G>A (p.Gly1010Ser) c.2752G>A (p.Gly918Ser) n.3327G>A c.2920G>A (p.Gly974Ser) c.2734G>A (p.Gly912Ser) n.3330G>A c.3088+12G>A (n.3088+12G>A) c.3025G>A (p.Gly1009Ser) c.3091G>A (p.Gly1031Ser) c.3013+12G>A (n.3013+12G>A) c.3043G>A (p.Gly1015Ser) c.3016+12G>A (n.3016+12G>A) c.3031+12G>A (n.3031+12G>A) c.2908G>A (p.Gly970Ser) c.2907G>A (p.Leu969=) | |
16 | g.28836134G>C | CA395410046 | ATXN2L | c.3097G>C (p.Gly1033Arg) c.3085+12G>C (n.3085+12G>C) c.1072G>C (p.Gly358Arg) n.3471G>C c.280+12G>C (n.280+12G>C) c.3115G>C (p.Gly1039Arg) c.2161G>C (n.2161G>C) c.354+12G>C c.1075G>C (p.Gly359Arg) c.3118G>C (p.Gly1040Arg) c.3100G>C (p.Gly1034Arg) c.3106+12G>C (n.3106+12G>C) c.3103+12G>C (n.3103+12G>C) c.2938G>C (p.Gly980Arg) c.3046G>C (p.Gly1016Arg) c.3028G>C (p.Gly1010Arg) c.2752G>C (p.Gly918Arg) n.3327G>C c.2920G>C (p.Gly974Arg) c.2734G>C (p.Gly912Arg) n.3330G>C c.3088+12G>C (n.3088+12G>C) c.3025G>C (p.Gly1009Arg) c.3091G>C (p.Gly1031Arg) c.3013+12G>C (n.3013+12G>C) c.3043G>C (p.Gly1015Arg) c.3016+12G>C (n.3016+12G>C) c.3031+12G>C (n.3031+12G>C) c.2908G>C (p.Gly970Arg) c.2907G>C (p.Leu969=) | |
16 | g.28836134G>T | CA395410048 | ATXN2L | c.3097G>T (p.Gly1033Cys) c.3085+12G>T (n.3085+12G>T) c.1072G>T (p.Gly358Cys) n.3471G>T c.280+12G>T (n.280+12G>T) c.3115G>T (p.Gly1039Cys) c.2161G>T (n.2161G>T) c.354+12G>T c.1075G>T (p.Gly359Cys) c.3118G>T (p.Gly1040Cys) c.3100G>T (p.Gly1034Cys) c.3106+12G>T (n.3106+12G>T) c.3103+12G>T (n.3103+12G>T) c.2938G>T (p.Gly980Cys) c.3046G>T (p.Gly1016Cys) c.3028G>T (p.Gly1010Cys) c.2752G>T (p.Gly918Cys) n.3327G>T c.2920G>T (p.Gly974Cys) c.2734G>T (p.Gly912Cys) n.3330G>T c.3088+12G>T (n.3088+12G>T) c.3025G>T (p.Gly1009Cys) c.3091G>T (p.Gly1031Cys) c.3013+12G>T (n.3013+12G>T) c.3043G>T (p.Gly1015Cys) c.3016+12G>T (n.3016+12G>T) c.3031+12G>T (n.3031+12G>T) c.2908G>T (p.Gly970Cys) c.2907G>T (p.Leu969=) | |
16 | g.28836135G>A | CA7985176 | ATXN2L | c.3098G>A (p.Gly1033Asp) c.3085+13G>A (n.3085+13G>A) c.1073G>A (p.Gly358Asp) n.3472G>A c.280+13G>A (n.280+13G>A) c.3116G>A (p.Gly1039Asp) c.2162G>A (n.2162G>A) c.354+13G>A c.1076G>A (p.Gly359Asp) c.3119G>A (p.Gly1040Asp) c.3101G>A (p.Gly1034Asp) c.3106+13G>A (n.3106+13G>A) c.3103+13G>A (n.3103+13G>A) c.2939G>A (p.Gly980Asp) c.3047G>A (p.Gly1016Asp) c.3029G>A (p.Gly1010Asp) c.2753G>A (p.Gly918Asp) n.3328G>A c.2921G>A (p.Gly974Asp) c.2735G>A (p.Gly912Asp) n.3331G>A c.3088+13G>A (n.3088+13G>A) c.3026G>A (p.Gly1009Asp) c.3092G>A (p.Gly1031Asp) c.3013+13G>A (n.3013+13G>A) c.3044G>A (p.Gly1015Asp) c.3016+13G>A (n.3016+13G>A) c.3031+13G>A (n.3031+13G>A) c.2909G>A (p.Gly970Asp) c.2908G>A (p.Ala970Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836135G>C | CA7985175 | ATXN2L | c.3098G>C (p.Gly1033Ala) c.3085+13G>C (n.3085+13G>C) c.1073G>C (p.Gly358Ala) n.3472G>C c.280+13G>C (n.280+13G>C) c.3116G>C (p.Gly1039Ala) c.2162G>C (n.2162G>C) c.354+13G>C c.1076G>C (p.Gly359Ala) c.3119G>C (p.Gly1040Ala) c.3101G>C (p.Gly1034Ala) c.3106+13G>C (n.3106+13G>C) c.3103+13G>C (n.3103+13G>C) c.2939G>C (p.Gly980Ala) c.3047G>C (p.Gly1016Ala) c.3029G>C (p.Gly1010Ala) c.2753G>C (p.Gly918Ala) n.3328G>C c.2921G>C (p.Gly974Ala) c.2735G>C (p.Gly912Ala) n.3331G>C c.3088+13G>C (n.3088+13G>C) c.3026G>C (p.Gly1009Ala) c.3092G>C (p.Gly1031Ala) c.3013+13G>C (n.3013+13G>C) c.3044G>C (p.Gly1015Ala) c.3016+13G>C (n.3016+13G>C) c.3031+13G>C (n.3031+13G>C) c.2909G>C (p.Gly970Ala) c.2908G>C (p.Ala970Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836135G= | CA2215806997 | ATXN2L | c.3098G= (p.Gly1033=) c.3085+13G= (n.3085+13G=) c.1073G= (p.Gly358=) n.3472G= c.280+13G= (n.280+13G=) c.3116G= (p.Gly1039=) c.2162G= (n.2162G=) c.354+13G= c.1076G= (p.Gly359=) c.3119G= (p.Gly1040=) c.3101G= (p.Gly1034=) c.3106+13G= (n.3106+13G=) c.3103+13G= (n.3103+13G=) c.2939G= (p.Gly980=) c.3047G= (p.Gly1016=) c.3029G= (p.Gly1010=) c.2753G= (p.Gly918=) n.3328G= c.2921G= (p.Gly974=) c.2735G= (p.Gly912=) n.3331G= c.3088+13G= (n.3088+13G=) c.3026G= (p.Gly1009=) c.3092G= (p.Gly1031=) c.3013+13G= (n.3013+13G=) c.3044G= (p.Gly1015=) c.3016+13G= (n.3016+13G=) c.3031+13G= (n.3031+13G=) c.2909G= (p.Gly970=) c.2908G= (p.Ala970=) | |
16 | g.28836135G>T | CA395410052 | ATXN2L | c.3098G>T (p.Gly1033Val) c.3085+13G>T (n.3085+13G>T) c.1073G>T (p.Gly358Val) n.3472G>T c.280+13G>T (n.280+13G>T) c.3116G>T (p.Gly1039Val) c.2162G>T (n.2162G>T) c.354+13G>T c.1076G>T (p.Gly359Val) c.3119G>T (p.Gly1040Val) c.3101G>T (p.Gly1034Val) c.3106+13G>T (n.3106+13G>T) c.3103+13G>T (n.3103+13G>T) c.2939G>T (p.Gly980Val) c.3047G>T (p.Gly1016Val) c.3029G>T (p.Gly1010Val) c.2753G>T (p.Gly918Val) n.3328G>T c.2921G>T (p.Gly974Val) c.2735G>T (p.Gly912Val) n.3331G>T c.3088+13G>T (n.3088+13G>T) c.3026G>T (p.Gly1009Val) c.3092G>T (p.Gly1031Val) c.3013+13G>T (n.3013+13G>T) c.3044G>T (p.Gly1015Val) c.3016+13G>T (n.3016+13G>T) c.3031+13G>T (n.3031+13G>T) c.2909G>T (p.Gly970Val) c.2908G>T (p.Ala970Ser) | |
16 | g.28836136C>A | CA494868910 | ATXN2L | c.3099C>A (p.Gly1033=) c.3085+14C>A (n.3085+14C>A) c.1074C>A (p.Gly358=) n.3473C>A c.280+14C>A (n.280+14C>A) c.3117C>A (p.Gly1039=) c.2163C>A (n.2163C>A) c.354+14C>A c.1077C>A (p.Gly359=) c.3120C>A (p.Gly1040=) c.3102C>A (p.Gly1034=) c.3106+14C>A (n.3106+14C>A) c.3103+14C>A (n.3103+14C>A) c.2940C>A (p.Gly980=) c.3048C>A (p.Gly1016=) c.3030C>A (p.Gly1010=) c.2754C>A (p.Gly918=) n.3329C>A c.2922C>A (p.Gly974=) c.2736C>A (p.Gly912=) n.3332C>A c.3088+14C>A (n.3088+14C>A) c.3027C>A (p.Gly1009=) c.3093C>A (p.Gly1031=) c.3013+14C>A (n.3013+14C>A) c.3045C>A (p.Gly1015=) c.3016+14C>A (n.3016+14C>A) c.3031+14C>A (n.3031+14C>A) c.2910C>A (p.Gly970=) c.2909C>A (p.Ala970Asp) | |
16 | g.28836136C= | CA2215807000 | ATXN2L | c.3099C= (p.Gly1033=) c.3085+14C= (n.3085+14C=) c.1074C= (p.Gly358=) n.3473C= c.280+14C= (n.280+14C=) c.3117C= (p.Gly1039=) c.2163C= (n.2163C=) c.354+14C= c.1077C= (p.Gly359=) c.3120C= (p.Gly1040=) c.3102C= (p.Gly1034=) c.3106+14C= (n.3106+14C=) c.3103+14C= (n.3103+14C=) c.2940C= (p.Gly980=) c.3048C= (p.Gly1016=) c.3030C= (p.Gly1010=) c.2754C= (p.Gly918=) n.3329C= c.2922C= (p.Gly974=) c.2736C= (p.Gly912=) n.3332C= c.3088+14C= (n.3088+14C=) c.3027C= (p.Gly1009=) c.3093C= (p.Gly1031=) c.3013+14C= (n.3013+14C=) c.3045C= (p.Gly1015=) c.3016+14C= (n.3016+14C=) c.3031+14C= (n.3031+14C=) c.2910C= (p.Gly970=) c.2909C= (p.Ala970=) | |
16 | g.28836136C>G | CA494868912 | ATXN2L | c.3099C>G (p.Gly1033=) c.3085+14C>G (n.3085+14C>G) c.1074C>G (p.Gly358=) n.3473C>G c.280+14C>G (n.280+14C>G) c.3117C>G (p.Gly1039=) c.2163C>G (n.2163C>G) c.354+14C>G c.1077C>G (p.Gly359=) c.3120C>G (p.Gly1040=) c.3102C>G (p.Gly1034=) c.3106+14C>G (n.3106+14C>G) c.3103+14C>G (n.3103+14C>G) c.2940C>G (p.Gly980=) c.3048C>G (p.Gly1016=) c.3030C>G (p.Gly1010=) c.2754C>G (p.Gly918=) n.3329C>G c.2922C>G (p.Gly974=) c.2736C>G (p.Gly912=) n.3332C>G c.3088+14C>G (n.3088+14C>G) c.3027C>G (p.Gly1009=) c.3093C>G (p.Gly1031=) c.3013+14C>G (n.3013+14C>G) c.3045C>G (p.Gly1015=) c.3016+14C>G (n.3016+14C>G) c.3031+14C>G (n.3031+14C>G) c.2910C>G (p.Gly970=) c.2909C>G (p.Ala970Gly) | |
16 | g.28836136C>T | CA7985177 | ATXN2L | c.3099C>T (p.Gly1033=) c.3085+14C>T (n.3085+14C>T) c.1074C>T (p.Gly358=) n.3473C>T c.280+14C>T (n.280+14C>T) c.3117C>T (p.Gly1039=) c.2163C>T (n.2163C>T) c.354+14C>T c.1077C>T (p.Gly359=) c.3120C>T (p.Gly1040=) c.3102C>T (p.Gly1034=) c.3106+14C>T (n.3106+14C>T) c.3103+14C>T (n.3103+14C>T) c.2940C>T (p.Gly980=) c.3048C>T (p.Gly1016=) c.3030C>T (p.Gly1010=) c.2754C>T (p.Gly918=) n.3329C>T c.2922C>T (p.Gly974=) c.2736C>T (p.Gly912=) n.3332C>T c.3088+14C>T (n.3088+14C>T) c.3027C>T (p.Gly1009=) c.3093C>T (p.Gly1031=) c.3013+14C>T (n.3013+14C>T) c.3045C>T (p.Gly1015=) c.3016+14C>T (n.3016+14C>T) c.3031+14C>T (n.3031+14C>T) c.2910C>T (p.Gly970=) c.2909C>T (p.Ala970Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836137C>A | CA395410059 | ATXN2L | c.3100C>A (p.Gln1034Lys) c.3085+15C>A (n.3085+15C>A) c.1075C>A (p.Gln359Lys) n.3474C>A c.280+15C>A (n.280+15C>A) c.3118C>A (p.Gln1040Lys) c.2164C>A (n.2164C>A) c.354+15C>A c.1078C>A (p.Gln360Lys) c.3121C>A (p.Gln1041Lys) c.3103C>A (p.Gln1035Lys) c.3106+15C>A (n.3106+15C>A) c.3103+15C>A (n.3103+15C>A) c.2941C>A (p.Gln981Lys) c.3049C>A (p.Gln1017Lys) c.3031C>A (p.Gln1011Lys) c.2755C>A (p.Gln919Lys) n.3330C>A c.2923C>A (p.Gln975Lys) c.2737C>A (p.Gln913Lys) n.3333C>A c.3088+15C>A (n.3088+15C>A) c.3028C>A (p.Gln1010Lys) c.3094C>A (p.Gln1032Lys) c.3013+15C>A (n.3013+15C>A) c.3046C>A (p.Gln1016Lys) c.3016+15C>A (n.3016+15C>A) c.3031+15C>A (n.3031+15C>A) c.2911C>A (p.Gln971Lys) c.2910C>A (p.Ala970=) | |
16 | g.28836137C= | CA2215807001 | ATXN2L | c.3100C= (p.Gln1034=) c.3085+15C= (n.3085+15C=) c.1075C= (p.Gln359=) n.3474C= c.280+15C= (n.280+15C=) c.3118C= (p.Gln1040=) c.2164C= (n.2164C=) c.354+15C= c.1078C= (p.Gln360=) c.3121C= (p.Gln1041=) c.3103C= (p.Gln1035=) c.3106+15C= (n.3106+15C=) c.3103+15C= (n.3103+15C=) c.2941C= (p.Gln981=) c.3049C= (p.Gln1017=) c.3031C= (p.Gln1011=) c.2755C= (p.Gln919=) n.3330C= c.2923C= (p.Gln975=) c.2737C= (p.Gln913=) n.3333C= c.3088+15C= (n.3088+15C=) c.3028C= (p.Gln1010=) c.3094C= (p.Gln1032=) c.3013+15C= (n.3013+15C=) c.3046C= (p.Gln1016=) c.3016+15C= (n.3016+15C=) c.3031+15C= (n.3031+15C=) c.2911C= (p.Gln971=) c.2910C= (p.Ala970=) | |
16 | g.28836137C>G | CA395410057 | ATXN2L | c.3100C>G (p.Gln1034Glu) c.3085+15C>G (n.3085+15C>G) c.1075C>G (p.Gln359Glu) n.3474C>G c.280+15C>G (n.280+15C>G) c.3118C>G (p.Gln1040Glu) c.2164C>G (n.2164C>G) c.354+15C>G c.1078C>G (p.Gln360Glu) c.3121C>G (p.Gln1041Glu) c.3103C>G (p.Gln1035Glu) c.3106+15C>G (n.3106+15C>G) c.3103+15C>G (n.3103+15C>G) c.2941C>G (p.Gln981Glu) c.3049C>G (p.Gln1017Glu) c.3031C>G (p.Gln1011Glu) c.2755C>G (p.Gln919Glu) n.3330C>G c.2923C>G (p.Gln975Glu) c.2737C>G (p.Gln913Glu) n.3333C>G c.3088+15C>G (n.3088+15C>G) c.3028C>G (p.Gln1010Glu) c.3094C>G (p.Gln1032Glu) c.3013+15C>G (n.3013+15C>G) c.3046C>G (p.Gln1016Glu) c.3016+15C>G (n.3016+15C>G) c.3031+15C>G (n.3031+15C>G) c.2911C>G (p.Gln971Glu) c.2910C>G (p.Ala970=) | gnomAD v4 |
16 | g.28836137C>T | CA395410055 | ATXN2L | c.3100C>T (p.Gln1034Ter) c.3085+15C>T (n.3085+15C>T) c.1075C>T (p.Gln359Ter) n.3474C>T c.280+15C>T (n.280+15C>T) c.3118C>T (p.Gln1040Ter) c.2164C>T (n.2164C>T) c.354+15C>T c.1078C>T (p.Gln360Ter) c.3121C>T (p.Gln1041Ter) c.3103C>T (p.Gln1035Ter) c.3106+15C>T (n.3106+15C>T) c.3103+15C>T (n.3103+15C>T) c.2941C>T (p.Gln981Ter) c.3049C>T (p.Gln1017Ter) c.3031C>T (p.Gln1011Ter) c.2755C>T (p.Gln919Ter) n.3330C>T c.2923C>T (p.Gln975Ter) c.2737C>T (p.Gln913Ter) n.3333C>T c.3088+15C>T (n.3088+15C>T) c.3028C>T (p.Gln1010Ter) c.3094C>T (p.Gln1032Ter) c.3013+15C>T (n.3013+15C>T) c.3046C>T (p.Gln1016Ter) c.3016+15C>T (n.3016+15C>T) c.3031+15C>T (n.3031+15C>T) c.2911C>T (p.Gln971Ter) c.2910C>T (p.Ala970=) | dbSNP |
16 | g.28836138A>C | CA395410062 | ATXN2L | c.3101A>C (p.Gln1034Pro) c.3085+16A>C (n.3085+16A>C) c.1076A>C (p.Gln359Pro) n.3475A>C c.280+16A>C (n.280+16A>C) c.3119A>C (p.Gln1040Pro) c.2165A>C (n.2165A>C) c.354+16A>C c.1079A>C (p.Gln360Pro) c.3122A>C (p.Gln1041Pro) c.3104A>C (p.Gln1035Pro) c.3106+16A>C (n.3106+16A>C) c.3103+16A>C (n.3103+16A>C) c.2942A>C (p.Gln981Pro) c.3050A>C (p.Gln1017Pro) c.3032A>C (p.Gln1011Pro) c.2756A>C (p.Gln919Pro) n.3331A>C c.2924A>C (p.Gln975Pro) c.2738A>C (p.Gln913Pro) n.3334A>C c.3088+16A>C (n.3088+16A>C) c.3029A>C (p.Gln1010Pro) c.3095A>C (p.Gln1032Pro) c.3013+16A>C (n.3013+16A>C) c.3047A>C (p.Gln1016Pro) c.3016+16A>C (n.3016+16A>C) c.3031+16A>C (n.3031+16A>C) c.2912A>C (p.Gln971Pro) c.2911A>C (p.Arg971=) | |
16 | g.28836138A>G | CA395410063 | ATXN2L | c.3101A>G (p.Gln1034Arg) c.3085+16A>G (n.3085+16A>G) c.1076A>G (p.Gln359Arg) n.3475A>G c.280+16A>G (n.280+16A>G) c.3119A>G (p.Gln1040Arg) c.2165A>G (n.2165A>G) c.354+16A>G c.1079A>G (p.Gln360Arg) c.3122A>G (p.Gln1041Arg) c.3104A>G (p.Gln1035Arg) c.3106+16A>G (n.3106+16A>G) c.3103+16A>G (n.3103+16A>G) c.2942A>G (p.Gln981Arg) c.3050A>G (p.Gln1017Arg) c.3032A>G (p.Gln1011Arg) c.2756A>G (p.Gln919Arg) n.3331A>G c.2924A>G (p.Gln975Arg) c.2738A>G (p.Gln913Arg) n.3334A>G c.3088+16A>G (n.3088+16A>G) c.3029A>G (p.Gln1010Arg) c.3095A>G (p.Gln1032Arg) c.3013+16A>G (n.3013+16A>G) c.3047A>G (p.Gln1016Arg) c.3016+16A>G (n.3016+16A>G) c.3031+16A>G (n.3031+16A>G) c.2912A>G (p.Gln971Arg) c.2911A>G (p.Arg971Gly) | |
16 | g.28836138A>T | CA395410065 | ATXN2L | c.3101A>T (p.Gln1034Leu) c.3085+16A>T (n.3085+16A>T) c.1076A>T (p.Gln359Leu) n.3475A>T c.280+16A>T (n.280+16A>T) c.3119A>T (p.Gln1040Leu) c.2165A>T (n.2165A>T) c.354+16A>T c.1079A>T (p.Gln360Leu) c.3122A>T (p.Gln1041Leu) c.3104A>T (p.Gln1035Leu) c.3106+16A>T (n.3106+16A>T) c.3103+16A>T (n.3103+16A>T) c.2942A>T (p.Gln981Leu) c.3050A>T (p.Gln1017Leu) c.3032A>T (p.Gln1011Leu) c.2756A>T (p.Gln919Leu) n.3331A>T c.2924A>T (p.Gln975Leu) c.2738A>T (p.Gln913Leu) n.3334A>T c.3088+16A>T (n.3088+16A>T) c.3029A>T (p.Gln1010Leu) c.3095A>T (p.Gln1032Leu) c.3013+16A>T (n.3013+16A>T) c.3047A>T (p.Gln1016Leu) c.3016+16A>T (n.3016+16A>T) c.3031+16A>T (n.3031+16A>T) c.2912A>T (p.Gln971Leu) c.2911A>T (p.Arg971Trp) | |
16 | g.28836139G>A | CA494868940 | ATXN2L | c.3102G>A (p.Gln1034=) c.3085+17G>A (n.3085+17G>A) c.1077G>A (p.Gln359=) n.3476G>A c.280+17G>A (n.280+17G>A) c.3120G>A (p.Gln1040=) c.2166G>A (n.2166G>A) c.354+17G>A c.1080G>A (p.Gln360=) c.3123G>A (p.Gln1041=) c.3105G>A (p.Gln1035=) c.3106+17G>A (n.3106+17G>A) c.3103+17G>A (n.3103+17G>A) c.2943G>A (p.Gln981=) c.3051G>A (p.Gln1017=) c.3033G>A (p.Gln1011=) c.2757G>A (p.Gln919=) n.3332G>A c.2925G>A (p.Gln975=) c.2739G>A (p.Gln913=) n.3335G>A c.3088+17G>A (n.3088+17G>A) c.3030G>A (p.Gln1010=) c.3096G>A (p.Gln1032=) c.3013+17G>A (n.3013+17G>A) c.3048G>A (p.Gln1016=) c.3016+17G>A (n.3016+17G>A) c.3031+17G>A (n.3031+17G>A) c.2913G>A (p.Gln971=) c.2912G>A (p.Arg971Lys) | dbSNP |
16 | g.28836139G>C | CA395410067 | ATXN2L | c.3102G>C (p.Gln1034His) c.3085+17G>C (n.3085+17G>C) c.1077G>C (p.Gln359His) n.3476G>C c.280+17G>C (n.280+17G>C) c.3120G>C (p.Gln1040His) c.2166G>C (n.2166G>C) c.354+17G>C c.1080G>C (p.Gln360His) c.3123G>C (p.Gln1041His) c.3105G>C (p.Gln1035His) c.3106+17G>C (n.3106+17G>C) c.3103+17G>C (n.3103+17G>C) c.2943G>C (p.Gln981His) c.3051G>C (p.Gln1017His) c.3033G>C (p.Gln1011His) c.2757G>C (p.Gln919His) n.3332G>C c.2925G>C (p.Gln975His) c.2739G>C (p.Gln913His) n.3335G>C c.3088+17G>C (n.3088+17G>C) c.3030G>C (p.Gln1010His) c.3096G>C (p.Gln1032His) c.3013+17G>C (n.3013+17G>C) c.3048G>C (p.Gln1016His) c.3016+17G>C (n.3016+17G>C) c.3031+17G>C (n.3031+17G>C) c.2913G>C (p.Gln971His) c.2912G>C (p.Arg971Thr) | |
16 | g.28836139G= | CA2215807003 | ATXN2L | c.3102G= (p.Gln1034=) c.3085+17G= (n.3085+17G=) c.1077G= (p.Gln359=) n.3476G= c.280+17G= (n.280+17G=) c.3120G= (p.Gln1040=) c.2166G= (n.2166G=) c.354+17G= c.1080G= (p.Gln360=) c.3123G= (p.Gln1041=) c.3105G= (p.Gln1035=) c.3106+17G= (n.3106+17G=) c.3103+17G= (n.3103+17G=) c.2943G= (p.Gln981=) c.3051G= (p.Gln1017=) c.3033G= (p.Gln1011=) c.2757G= (p.Gln919=) n.3332G= c.2925G= (p.Gln975=) c.2739G= (p.Gln913=) n.3335G= c.3088+17G= (n.3088+17G=) c.3030G= (p.Gln1010=) c.3096G= (p.Gln1032=) c.3013+17G= (n.3013+17G=) c.3048G= (p.Gln1016=) c.3016+17G= (n.3016+17G=) c.3031+17G= (n.3031+17G=) c.2913G= (p.Gln971=) c.2912G= (p.Arg971=) | |
16 | g.28836139G>T | CA395410069 | ATXN2L | c.3102G>T (p.Gln1034His) c.3085+17G>T (n.3085+17G>T) c.1077G>T (p.Gln359His) n.3476G>T c.280+17G>T (n.280+17G>T) c.3120G>T (p.Gln1040His) c.2166G>T (n.2166G>T) c.354+17G>T c.1080G>T (p.Gln360His) c.3123G>T (p.Gln1041His) c.3105G>T (p.Gln1035His) c.3106+17G>T (n.3106+17G>T) c.3103+17G>T (n.3103+17G>T) c.2943G>T (p.Gln981His) c.3051G>T (p.Gln1017His) c.3033G>T (p.Gln1011His) c.2757G>T (p.Gln919His) n.3332G>T c.2925G>T (p.Gln975His) c.2739G>T (p.Gln913His) n.3335G>T c.3088+17G>T (n.3088+17G>T) c.3030G>T (p.Gln1010His) c.3096G>T (p.Gln1032His) c.3013+17G>T (n.3013+17G>T) c.3048G>T (p.Gln1016His) c.3016+17G>T (n.3016+17G>T) c.3031+17G>T (n.3031+17G>T) c.2913G>T (p.Gln971His) c.2912G>T (p.Arg971Met) | |
16 | g.28836140G>A | CA395410071 | ATXN2L | c.3103G>A (p.Ala1035Thr) c.3085+18G>A (n.3085+18G>A) c.1078G>A (p.Ala360Thr) n.3477G>A c.280+18G>A (n.280+18G>A) c.3121G>A (p.Ala1041Thr) c.2167G>A (n.2167G>A) c.354+18G>A c.1081G>A (p.Ala361Thr) c.3124G>A (p.Ala1042Thr) c.3106G>A (p.Ala1036Thr) c.3106+18G>A (n.3106+18G>A) c.3103+18G>A (n.3103+18G>A) c.2944G>A (p.Ala982Thr) c.3052G>A (p.Ala1018Thr) c.3034G>A (p.Ala1012Thr) c.2758G>A (p.Ala920Thr) n.3333G>A c.2926G>A (p.Ala976Thr) c.2740G>A (p.Ala914Thr) n.3336G>A c.3088+18G>A (n.3088+18G>A) c.3031G>A (p.Ala1011Thr) c.3097G>A (p.Ala1033Thr) c.3013+18G>A (n.3013+18G>A) c.3049G>A (p.Ala1017Thr) c.3016+18G>A (n.3016+18G>A) c.3031+18G>A (n.3031+18G>A) c.2914G>A (p.Ala972Thr) c.2913G>A (p.Arg971=) | |
16 | g.28836140G>C | CA395410073 | ATXN2L | c.3103G>C (p.Ala1035Pro) c.3085+18G>C (n.3085+18G>C) c.1078G>C (p.Ala360Pro) n.3477G>C c.280+18G>C (n.280+18G>C) c.3121G>C (p.Ala1041Pro) c.2167G>C (n.2167G>C) c.354+18G>C c.1081G>C (p.Ala361Pro) c.3124G>C (p.Ala1042Pro) c.3106G>C (p.Ala1036Pro) c.3106+18G>C (n.3106+18G>C) c.3103+18G>C (n.3103+18G>C) c.2944G>C (p.Ala982Pro) c.3052G>C (p.Ala1018Pro) c.3034G>C (p.Ala1012Pro) c.2758G>C (p.Ala920Pro) n.3333G>C c.2926G>C (p.Ala976Pro) c.2740G>C (p.Ala914Pro) n.3336G>C c.3088+18G>C (n.3088+18G>C) c.3031G>C (p.Ala1011Pro) c.3097G>C (p.Ala1033Pro) c.3013+18G>C (n.3013+18G>C) c.3049G>C (p.Ala1017Pro) c.3016+18G>C (n.3016+18G>C) c.3031+18G>C (n.3031+18G>C) c.2914G>C (p.Ala972Pro) c.2913G>C (p.Arg971Ser) | |
16 | g.28836140G>T | CA395410074 | ATXN2L | c.3103G>T (p.Ala1035Ser) c.3085+18G>T (n.3085+18G>T) c.1078G>T (p.Ala360Ser) n.3477G>T c.280+18G>T (n.280+18G>T) c.3121G>T (p.Ala1041Ser) c.2167G>T (n.2167G>T) c.354+18G>T c.1081G>T (p.Ala361Ser) c.3124G>T (p.Ala1042Ser) c.3106G>T (p.Ala1036Ser) c.3106+18G>T (n.3106+18G>T) c.3103+18G>T (n.3103+18G>T) c.2944G>T (p.Ala982Ser) c.3052G>T (p.Ala1018Ser) c.3034G>T (p.Ala1012Ser) c.2758G>T (p.Ala920Ser) n.3333G>T c.2926G>T (p.Ala976Ser) c.2740G>T (p.Ala914Ser) n.3336G>T c.3088+18G>T (n.3088+18G>T) c.3031G>T (p.Ala1011Ser) c.3097G>T (p.Ala1033Ser) c.3013+18G>T (n.3013+18G>T) c.3049G>T (p.Ala1017Ser) c.3016+18G>T (n.3016+18G>T) c.3031+18G>T (n.3031+18G>T) c.2914G>T (p.Ala972Ser) c.2913G>T (p.Arg971Ser) | gnomAD v4 |
16 | g.28836141C>A | CA395410077 | ATXN2L | c.3104C>A (p.Ala1035Glu) c.3085+19C>A (n.3085+19C>A) c.1079C>A (p.Ala360Glu) n.3478C>A c.280+19C>A (n.280+19C>A) c.3122C>A (p.Ala1041Glu) c.2168C>A (n.2168C>A) c.354+19C>A c.1082C>A (p.Ala361Glu) c.3125C>A (p.Ala1042Glu) c.3107C>A (p.Ala1036Glu) c.3106+19C>A (n.3106+19C>A) c.3103+19C>A (n.3103+19C>A) c.2945C>A (p.Ala982Glu) c.3053C>A (p.Ala1018Glu) c.3035C>A (p.Ala1012Glu) c.2759C>A (p.Ala920Glu) n.3334C>A c.2927C>A (p.Ala976Glu) c.2741C>A (p.Ala914Glu) n.3337C>A c.3088+19C>A (n.3088+19C>A) c.3032C>A (p.Ala1011Glu) c.3098C>A (p.Ala1033Glu) c.3013+19C>A (n.3013+19C>A) c.3050C>A (p.Ala1017Glu) c.3016+19C>A (n.3016+19C>A) c.3031+19C>A (n.3031+19C>A) c.2915C>A (p.Ala972Glu) c.2914C>A (p.Arg972Ser) | |
16 | g.28836141C= | CA2215807005 | ATXN2L | c.3104C= (p.Ala1035=) c.3085+19C= (n.3085+19C=) c.1079C= (p.Ala360=) n.3478C= c.280+19C= (n.280+19C=) c.3122C= (p.Ala1041=) c.2168C= (n.2168C=) c.354+19C= c.1082C= (p.Ala361=) c.3125C= (p.Ala1042=) c.3107C= (p.Ala1036=) c.3106+19C= (n.3106+19C=) c.3103+19C= (n.3103+19C=) c.2945C= (p.Ala982=) c.3053C= (p.Ala1018=) c.3035C= (p.Ala1012=) c.2759C= (p.Ala920=) n.3334C= c.2927C= (p.Ala976=) c.2741C= (p.Ala914=) n.3337C= c.3088+19C= (n.3088+19C=) c.3032C= (p.Ala1011=) c.3098C= (p.Ala1033=) c.3013+19C= (n.3013+19C=) c.3050C= (p.Ala1017=) c.3016+19C= (n.3016+19C=) c.3031+19C= (n.3031+19C=) c.2915C= (p.Ala972=) c.2914C= (p.Arg972=) | |
16 | g.28836141C>G | CA395410079 | ATXN2L | c.3104C>G (p.Ala1035Gly) c.3085+19C>G (n.3085+19C>G) c.1079C>G (p.Ala360Gly) n.3478C>G c.280+19C>G (n.280+19C>G) c.3122C>G (p.Ala1041Gly) c.2168C>G (n.2168C>G) c.354+19C>G c.1082C>G (p.Ala361Gly) c.3125C>G (p.Ala1042Gly) c.3107C>G (p.Ala1036Gly) c.3106+19C>G (n.3106+19C>G) c.3103+19C>G (n.3103+19C>G) c.2945C>G (p.Ala982Gly) c.3053C>G (p.Ala1018Gly) c.3035C>G (p.Ala1012Gly) c.2759C>G (p.Ala920Gly) n.3334C>G c.2927C>G (p.Ala976Gly) c.2741C>G (p.Ala914Gly) n.3337C>G c.3088+19C>G (n.3088+19C>G) c.3032C>G (p.Ala1011Gly) c.3098C>G (p.Ala1033Gly) c.3013+19C>G (n.3013+19C>G) c.3050C>G (p.Ala1017Gly) c.3016+19C>G (n.3016+19C>G) c.3031+19C>G (n.3031+19C>G) c.2915C>G (p.Ala972Gly) c.2914C>G (p.Arg972Gly) | |
16 | g.28836141C>T | CA7985178 | ATXN2L | c.3104C>T (p.Ala1035Val) c.3085+19C>T (n.3085+19C>T) c.1079C>T (p.Ala360Val) n.3478C>T c.280+19C>T (n.280+19C>T) c.3122C>T (p.Ala1041Val) c.2168C>T (n.2168C>T) c.354+19C>T c.1082C>T (p.Ala361Val) c.3125C>T (p.Ala1042Val) c.3107C>T (p.Ala1036Val) c.3106+19C>T (n.3106+19C>T) c.3103+19C>T (n.3103+19C>T) c.2945C>T (p.Ala982Val) c.3053C>T (p.Ala1018Val) c.3035C>T (p.Ala1012Val) c.2759C>T (p.Ala920Val) n.3334C>T c.2927C>T (p.Ala976Val) c.2741C>T (p.Ala914Val) n.3337C>T c.3088+19C>T (n.3088+19C>T) c.3032C>T (p.Ala1011Val) c.3098C>T (p.Ala1033Val) c.3013+19C>T (n.3013+19C>T) c.3050C>T (p.Ala1017Val) c.3016+19C>T (n.3016+19C>T) c.3031+19C>T (n.3031+19C>T) c.2915C>T (p.Ala972Val) c.2914C>T (p.Arg972Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836142G>A | CA7985179 | ATXN2L | c.3105G>A (p.Ala1035=) c.3085+20G>A (n.3085+20G>A) c.1080G>A (p.Ala360=) n.3479G>A c.280+20G>A (n.280+20G>A) c.3123G>A (p.Ala1041=) c.2169G>A (n.2169G>A) c.354+20G>A c.1083G>A (p.Ala361=) c.3126G>A (p.Ala1042=) c.3108G>A (p.Ala1036=) c.3106+20G>A (n.3106+20G>A) c.3103+20G>A (n.3103+20G>A) c.2946G>A (p.Ala982=) c.3054G>A (p.Ala1018=) c.3036G>A (p.Ala1012=) c.2760G>A (p.Ala920=) n.3335G>A c.2928G>A (p.Ala976=) c.2742G>A (p.Ala914=) n.3338G>A c.3088+20G>A (n.3088+20G>A) c.3033G>A (p.Ala1011=) c.3099G>A (p.Ala1033=) c.3013+20G>A (n.3013+20G>A) c.3051G>A (p.Ala1017=) c.3016+20G>A (n.3016+20G>A) c.3031+20G>A (n.3031+20G>A) c.2916G>A (p.Ala972=) c.2915G>A (p.Arg972His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836142G>C | CA494868961 | ATXN2L | c.3105G>C (p.Ala1035=) c.3085+20G>C (n.3085+20G>C) c.1080G>C (p.Ala360=) n.3479G>C c.280+20G>C (n.280+20G>C) c.3123G>C (p.Ala1041=) c.2169G>C (n.2169G>C) c.354+20G>C c.1083G>C (p.Ala361=) c.3126G>C (p.Ala1042=) c.3108G>C (p.Ala1036=) c.3106+20G>C (n.3106+20G>C) c.3103+20G>C (n.3103+20G>C) c.2946G>C (p.Ala982=) c.3054G>C (p.Ala1018=) c.3036G>C (p.Ala1012=) c.2760G>C (p.Ala920=) n.3335G>C c.2928G>C (p.Ala976=) c.2742G>C (p.Ala914=) n.3338G>C c.3088+20G>C (n.3088+20G>C) c.3033G>C (p.Ala1011=) c.3099G>C (p.Ala1033=) c.3013+20G>C (n.3013+20G>C) c.3051G>C (p.Ala1017=) c.3016+20G>C (n.3016+20G>C) c.3031+20G>C (n.3031+20G>C) c.2916G>C (p.Ala972=) c.2915G>C (p.Arg972Pro) | |
16 | g.28836142G= | CA2215807010 | ATXN2L | c.3105G= (p.Ala1035=) c.3085+20G= (n.3085+20G=) c.1080G= (p.Ala360=) n.3479G= c.280+20G= (n.280+20G=) c.3123G= (p.Ala1041=) c.2169G= (n.2169G=) c.354+20G= c.1083G= (p.Ala361=) c.3126G= (p.Ala1042=) c.3108G= (p.Ala1036=) c.3106+20G= (n.3106+20G=) c.3103+20G= (n.3103+20G=) c.2946G= (p.Ala982=) c.3054G= (p.Ala1018=) c.3036G= (p.Ala1012=) c.2760G= (p.Ala920=) n.3335G= c.2928G= (p.Ala976=) c.2742G= (p.Ala914=) n.3338G= c.3088+20G= (n.3088+20G=) c.3033G= (p.Ala1011=) c.3099G= (p.Ala1033=) c.3013+20G= (n.3013+20G=) c.3051G= (p.Ala1017=) c.3016+20G= (n.3016+20G=) c.3031+20G= (n.3031+20G=) c.2916G= (p.Ala972=) c.2915G= (p.Arg972=) | |
16 | g.28836142G>T | CA494868964 | ATXN2L | c.3105G>T (p.Ala1035=) c.3085+20G>T (n.3085+20G>T) c.1080G>T (p.Ala360=) n.3479G>T c.280+20G>T (n.280+20G>T) c.3123G>T (p.Ala1041=) c.2169G>T (n.2169G>T) c.354+20G>T c.1083G>T (p.Ala361=) c.3126G>T (p.Ala1042=) c.3108G>T (p.Ala1036=) c.3106+20G>T (n.3106+20G>T) c.3103+20G>T (n.3103+20G>T) c.2946G>T (p.Ala982=) c.3054G>T (p.Ala1018=) c.3036G>T (p.Ala1012=) c.2760G>T (p.Ala920=) n.3335G>T c.2928G>T (p.Ala976=) c.2742G>T (p.Ala914=) n.3338G>T c.3088+20G>T (n.3088+20G>T) c.3033G>T (p.Ala1011=) c.3099G>T (p.Ala1033=) c.3013+20G>T (n.3013+20G>T) c.3051G>T (p.Ala1017=) c.3016+20G>T (n.3016+20G>T) c.3031+20G>T (n.3031+20G>T) c.2916G>T (p.Ala972=) c.2915G>T (p.Arg972Leu) | dbSNP |
16 | g.28836143C>A | CA395410083 | ATXN2L | c.3106C>A (p.Pro1036Thr) c.3085+21C>A (n.3085+21C>A) c.1081C>A (p.Pro361Thr) n.3480C>A c.280+21C>A (n.280+21C>A) c.3124C>A (p.Pro1042Thr) c.2170C>A (n.2170C>A) c.354+21C>A c.1084C>A (p.Pro362Thr) c.3127C>A (p.Pro1043Thr) c.3109C>A (p.Pro1037Thr) c.3106+21C>A (n.3106+21C>A) c.3103+21C>A (n.3103+21C>A) c.2947C>A (p.Pro983Thr) c.3055C>A (p.Pro1019Thr) c.3037C>A (p.Pro1013Thr) c.2761C>A (p.Pro921Thr) n.3336C>A c.2929C>A (p.Pro977Thr) c.2743C>A (p.Pro915Thr) n.3339C>A c.3088+21C>A (n.3088+21C>A) c.3034C>A (p.Pro1012Thr) c.3100C>A (p.Pro1034Thr) c.3013+21C>A (n.3013+21C>A) c.3052C>A (p.Pro1018Thr) c.3016+21C>A (n.3016+21C>A) c.3031+21C>A (n.3031+21C>A) c.2917C>A (p.Pro973Thr) c.2916C>A (p.Arg972=) | |
16 | g.28836143C= | CA2215807011 | ATXN2L | c.3106C= (p.Pro1036=) c.3085+21C= (n.3085+21C=) c.1081C= (p.Pro361=) n.3480C= c.280+21C= (n.280+21C=) c.3124C= (p.Pro1042=) c.2170C= (n.2170C=) c.354+21C= c.1084C= (p.Pro362=) c.3127C= (p.Pro1043=) c.3109C= (p.Pro1037=) c.3106+21C= (n.3106+21C=) c.3103+21C= (n.3103+21C=) c.2947C= (p.Pro983=) c.3055C= (p.Pro1019=) c.3037C= (p.Pro1013=) c.2761C= (p.Pro921=) n.3336C= c.2929C= (p.Pro977=) c.2743C= (p.Pro915=) n.3339C= c.3088+21C= (n.3088+21C=) c.3034C= (p.Pro1012=) c.3100C= (p.Pro1034=) c.3013+21C= (n.3013+21C=) c.3052C= (p.Pro1018=) c.3016+21C= (n.3016+21C=) c.3031+21C= (n.3031+21C=) c.2917C= (p.Pro973=) c.2916C= (p.Arg972=) | |
16 | g.28836143C>G | CA395410084 | ATXN2L | c.3106C>G (p.Pro1036Ala) c.3085+21C>G (n.3085+21C>G) c.1081C>G (p.Pro361Ala) n.3480C>G c.280+21C>G (n.280+21C>G) c.3124C>G (p.Pro1042Ala) c.2170C>G (n.2170C>G) c.354+21C>G c.1084C>G (p.Pro362Ala) c.3127C>G (p.Pro1043Ala) c.3109C>G (p.Pro1037Ala) c.3106+21C>G (n.3106+21C>G) c.3103+21C>G (n.3103+21C>G) c.2947C>G (p.Pro983Ala) c.3055C>G (p.Pro1019Ala) c.3037C>G (p.Pro1013Ala) c.2761C>G (p.Pro921Ala) n.3336C>G c.2929C>G (p.Pro977Ala) c.2743C>G (p.Pro915Ala) n.3339C>G c.3088+21C>G (n.3088+21C>G) c.3034C>G (p.Pro1012Ala) c.3100C>G (p.Pro1034Ala) c.3013+21C>G (n.3013+21C>G) c.3052C>G (p.Pro1018Ala) c.3016+21C>G (n.3016+21C>G) c.3031+21C>G (n.3031+21C>G) c.2917C>G (p.Pro973Ala) c.2916C>G (p.Arg972=) | gnomAD v4 |
16 | g.28836143C>T | CA7985180 | ATXN2L | c.3106C>T (p.Pro1036Ser) c.3085+21C>T (n.3085+21C>T) c.1081C>T (p.Pro361Ser) n.3480C>T c.280+21C>T (n.280+21C>T) c.3124C>T (p.Pro1042Ser) c.2170C>T (n.2170C>T) c.354+21C>T c.1084C>T (p.Pro362Ser) c.3127C>T (p.Pro1043Ser) c.3109C>T (p.Pro1037Ser) c.3106+21C>T (n.3106+21C>T) c.3103+21C>T (n.3103+21C>T) c.2947C>T (p.Pro983Ser) c.3055C>T (p.Pro1019Ser) c.3037C>T (p.Pro1013Ser) c.2761C>T (p.Pro921Ser) n.3336C>T c.2929C>T (p.Pro977Ser) c.2743C>T (p.Pro915Ser) n.3339C>T c.3088+21C>T (n.3088+21C>T) c.3034C>T (p.Pro1012Ser) c.3100C>T (p.Pro1034Ser) c.3013+21C>T (n.3013+21C>T) c.3052C>T (p.Pro1018Ser) c.3016+21C>T (n.3016+21C>T) c.3031+21C>T (n.3031+21C>T) c.2917C>T (p.Pro973Ser) c.2916C>T (p.Arg972=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836144C>A | CA395410088 | ATXN2L | c.3107C>A (p.Pro1036His) c.3085+22C>A (n.3085+22C>A) c.1082C>A (p.Pro361His) n.3481C>A c.280+22C>A (n.280+22C>A) c.3125C>A (p.Pro1042His) c.2171C>A (n.2171C>A) c.354+22C>A c.1085C>A (p.Pro362His) c.3128C>A (p.Pro1043His) c.3110C>A (p.Pro1037His) c.3106+22C>A (n.3106+22C>A) c.3103+22C>A (n.3103+22C>A) c.2948C>A (p.Pro983His) c.3056C>A (p.Pro1019His) c.3038C>A (p.Pro1013His) c.2762C>A (p.Pro921His) n.3337C>A c.2930C>A (p.Pro977His) c.2744C>A (p.Pro915His) n.3340C>A c.3088+22C>A (n.3088+22C>A) c.3035C>A (p.Pro1012His) c.3101C>A (p.Pro1034His) c.3013+22C>A (n.3013+22C>A) c.3053C>A (p.Pro1018His) c.3016+22C>A (n.3016+22C>A) c.3031+22C>A (n.3031+22C>A) c.2918C>A (p.Pro973His) c.2917C>A (p.Leu973Met) | |
16 | g.28836144C= | CA2215807014 | ATXN2L | c.3107C= (p.Pro1036=) c.3085+22C= (n.3085+22C=) c.1082C= (p.Pro361=) n.3481C= c.280+22C= (n.280+22C=) c.3125C= (p.Pro1042=) c.2171C= (n.2171C=) c.354+22C= c.1085C= (p.Pro362=) c.3128C= (p.Pro1043=) c.3110C= (p.Pro1037=) c.3106+22C= (n.3106+22C=) c.3103+22C= (n.3103+22C=) c.2948C= (p.Pro983=) c.3056C= (p.Pro1019=) c.3038C= (p.Pro1013=) c.2762C= (p.Pro921=) n.3337C= c.2930C= (p.Pro977=) c.2744C= (p.Pro915=) n.3340C= c.3088+22C= (n.3088+22C=) c.3035C= (p.Pro1012=) c.3101C= (p.Pro1034=) c.3013+22C= (n.3013+22C=) c.3053C= (p.Pro1018=) c.3016+22C= (n.3016+22C=) c.3031+22C= (n.3031+22C=) c.2918C= (p.Pro973=) c.2917C= (p.Leu973=) | |
16 | g.28836144C>G | CA395410090 | ATXN2L | c.3107C>G (p.Pro1036Arg) c.3085+22C>G (n.3085+22C>G) c.1082C>G (p.Pro361Arg) n.3481C>G c.280+22C>G (n.280+22C>G) c.3125C>G (p.Pro1042Arg) c.2171C>G (n.2171C>G) c.354+22C>G c.1085C>G (p.Pro362Arg) c.3128C>G (p.Pro1043Arg) c.3110C>G (p.Pro1037Arg) c.3106+22C>G (n.3106+22C>G) c.3103+22C>G (n.3103+22C>G) c.2948C>G (p.Pro983Arg) c.3056C>G (p.Pro1019Arg) c.3038C>G (p.Pro1013Arg) c.2762C>G (p.Pro921Arg) n.3337C>G c.2930C>G (p.Pro977Arg) c.2744C>G (p.Pro915Arg) n.3340C>G c.3088+22C>G (n.3088+22C>G) c.3035C>G (p.Pro1012Arg) c.3101C>G (p.Pro1034Arg) c.3013+22C>G (n.3013+22C>G) c.3053C>G (p.Pro1018Arg) c.3016+22C>G (n.3016+22C>G) c.3031+22C>G (n.3031+22C>G) c.2918C>G (p.Pro973Arg) c.2917C>G (p.Leu973Val) | |
16 | g.28836144C>T | CA395410087 | ATXN2L | c.3107C>T (p.Pro1036Leu) c.3085+22C>T (n.3085+22C>T) c.1082C>T (p.Pro361Leu) n.3481C>T c.280+22C>T (n.280+22C>T) c.3125C>T (p.Pro1042Leu) c.2171C>T (n.2171C>T) c.354+22C>T c.1085C>T (p.Pro362Leu) c.3128C>T (p.Pro1043Leu) c.3110C>T (p.Pro1037Leu) c.3106+22C>T (n.3106+22C>T) c.3103+22C>T (n.3103+22C>T) c.2948C>T (p.Pro983Leu) c.3056C>T (p.Pro1019Leu) c.3038C>T (p.Pro1013Leu) c.2762C>T (p.Pro921Leu) n.3337C>T c.2930C>T (p.Pro977Leu) c.2744C>T (p.Pro915Leu) n.3340C>T c.3088+22C>T (n.3088+22C>T) c.3035C>T (p.Pro1012Leu) c.3101C>T (p.Pro1034Leu) c.3013+22C>T (n.3013+22C>T) c.3053C>T (p.Pro1018Leu) c.3016+22C>T (n.3016+22C>T) c.3031+22C>T (n.3031+22C>T) c.2918C>T (p.Pro973Leu) c.2917C>T (p.Leu973=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
16 | g.28836145T>A | CA494869035 | ATXN2L | c.3108T>A (p.Pro1036=) c.3085+23T>A (n.3085+23T>A) c.1083T>A (p.Pro361=) n.3482T>A c.280+23T>A (n.280+23T>A) c.3126T>A (p.Pro1042=) c.2172T>A (n.2172T>A) c.354+23T>A c.1086T>A (p.Pro362=) c.3129T>A (p.Pro1043=) c.3111T>A (p.Pro1037=) c.3106+23T>A (n.3106+23T>A) c.3103+23T>A (n.3103+23T>A) c.2949T>A (p.Pro983=) c.3057T>A (p.Pro1019=) c.3039T>A (p.Pro1013=) c.2763T>A (p.Pro921=) n.3338T>A c.2931T>A (p.Pro977=) c.2745T>A (p.Pro915=) n.3341T>A c.3088+23T>A (n.3088+23T>A) c.3036T>A (p.Pro1012=) c.3102T>A (p.Pro1034=) c.3013+23T>A (n.3013+23T>A) c.3054T>A (p.Pro1018=) c.3016+23T>A (n.3016+23T>A) c.3031+23T>A (n.3031+23T>A) c.2919T>A (p.Pro973=) c.2918T>A (p.Leu973Gln) | |
16 | g.28836145T>C | CA494869037 | ATXN2L | c.3108T>C (p.Pro1036=) c.3085+23T>C (n.3085+23T>C) c.1083T>C (p.Pro361=) n.3482T>C c.280+23T>C (n.280+23T>C) c.3126T>C (p.Pro1042=) c.2172T>C (n.2172T>C) c.354+23T>C c.1086T>C (p.Pro362=) c.3129T>C (p.Pro1043=) c.3111T>C (p.Pro1037=) c.3106+23T>C (n.3106+23T>C) c.3103+23T>C (n.3103+23T>C) c.2949T>C (p.Pro983=) c.3057T>C (p.Pro1019=) c.3039T>C (p.Pro1013=) c.2763T>C (p.Pro921=) n.3338T>C c.2931T>C (p.Pro977=) c.2745T>C (p.Pro915=) n.3341T>C c.3088+23T>C (n.3088+23T>C) c.3036T>C (p.Pro1012=) c.3102T>C (p.Pro1034=) c.3013+23T>C (n.3013+23T>C) c.3054T>C (p.Pro1018=) c.3016+23T>C (n.3016+23T>C) c.3031+23T>C (n.3031+23T>C) c.2919T>C (p.Pro973=) c.2918T>C (p.Leu973Pro) | |
16 | g.28836145T>G | CA494869015 | ATXN2L | c.3108T>G (p.Pro1036=) c.3085+23T>G (n.3085+23T>G) c.1083T>G (p.Pro361=) n.3482T>G c.280+23T>G (n.280+23T>G) c.3126T>G (p.Pro1042=) c.2172T>G (n.2172T>G) c.354+23T>G c.1086T>G (p.Pro362=) c.3129T>G (p.Pro1043=) c.3111T>G (p.Pro1037=) c.3106+23T>G (n.3106+23T>G) c.3103+23T>G (n.3103+23T>G) c.2949T>G (p.Pro983=) c.3057T>G (p.Pro1019=) c.3039T>G (p.Pro1013=) c.2763T>G (p.Pro921=) n.3338T>G c.2931T>G (p.Pro977=) c.2745T>G (p.Pro915=) n.3341T>G c.3088+23T>G (n.3088+23T>G) c.3036T>G (p.Pro1012=) c.3102T>G (p.Pro1034=) c.3013+23T>G (n.3013+23T>G) c.3054T>G (p.Pro1018=) c.3016+23T>G (n.3016+23T>G) c.3031+23T>G (n.3031+23T>G) c.2919T>G (p.Pro973=) c.2918T>G (p.Leu973Arg) | gnomAD v4 |