Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28836066T>ACA395409239ATXN2Lc.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)
16g.28836066T>CCA395409240ATXN2Lc.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)
16g.28836066T>GCA395409241ATXN2Lc.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)
16g.28836067G>ACA279230914ATXN2Lc.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
16g.28836067G>CCA494869339ATXN2Lc.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)
16g.28836067G=CA2215806890ATXN2Lc.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=)
16g.28836067G>TCA494869341ATXN2Lc.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
16g.28836068C>ACA7985163ATXN2Lc.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
16g.28836068C=CA2215806894ATXN2Lc.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=)
16g.28836068C>GCA395409242ATXN2Lc.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)
16g.28836068C>TCA7985162ATXN2Lc.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
16g.28836069C>ACA395409244ATXN2Lc.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)
16g.28836069C=CA2215806896ATXN2Lc.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=)
16g.28836069C>GCA7985164ATXN2Lc.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
16g.28836069C>TCA395409243ATXN2Lc.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
16g.28836070T>ACA494869354ATXN2Lc.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)
16g.28836070T>CCA494869357ATXN2Lc.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)
16g.28836070T>GCA494869358ATXN2Lc.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)
16g.28836071G>ACA7985165ATXN2Lc.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
16g.28836071G>CCA395409245ATXN2Lc.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)
16g.28836071G=CA2215806900ATXN2Lc.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=)
16g.28836071G>TCA395409246ATXN2Lc.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)
16g.28836072C>ACA395409247ATXN2Lc.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)
16g.28836072C>GCA395409248ATXN2Lc.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)
16g.28836072C>TCA395409249ATXN2Lc.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
16g.28836073A>CCA494869370ATXN2Lc.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)
16g.28836073A>GCA494869371ATXN2Lc.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
16g.28836073A>TCA494869374ATXN2Lc.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)
16g.28836074C>ACA395409250ATXN2Lc.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)
16g.28836074C=CA2215806903ATXN2Lc.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=)
16g.28836074C>GCA395409252ATXN2Lc.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
16g.28836074C>TCA395409251ATXN2Lc.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)
16g.28836075T>ACA395409253ATXN2Lc.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
16g.28836075T>CCA395409254ATXN2Lc.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)
16g.28836075T>GCA395409255ATXN2Lc.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)
16g.28836076C>ACA494869380ATXN2Lc.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)
16g.28836076C=CA2215806907ATXN2Lc.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=)
16g.28836076C>GCA494869382ATXN2Lc.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
16g.28836076C>TCA7985166ATXN2Lc.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
16g.28836077T>ACA395409258ATXN2Lc.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)
16g.28836077T>CCA395409257ATXN2Lc.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)
16g.28836077T>GCA395409256ATXN2Lc.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)
16g.28836078C>ACA395409259ATXN2Lc.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)
16g.28836078C=CA2215806910ATXN2Lc.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=)
16g.28836078C>GCA395409261ATXN2Lc.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
16g.28836078C>TCA395409260ATXN2Lc.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
16g.28836079A>CCA494869394ATXN2Lc.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)
16g.28836079A>GCA494869395ATXN2Lc.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)
16g.28836079A>TCA494869398ATXN2Lc.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)
16g.28836080G>ACA395409262ATXN2Lc.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
16g.28836080G>CCA395409263ATXN2Lc.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)
16g.28836080G>TCA395409264ATXN2Lc.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)
16g.28836081C>ACA395409265ATXN2Lc.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)
16g.28836081C=CA2215806913ATXN2Lc.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=)
16g.28836081C>GCA395409266ATXN2Lc.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)
16g.28836081C>TCA7985167ATXN2Lc.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
16g.28836082T>ACA494869411ATXN2Lc.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)
16g.28836082T>CCA494869407ATXN2Lc.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)
16g.28836082T>GCA494869406ATXN2Lc.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)
16g.28836083T>ACA395409269ATXN2Lc.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)
16g.28836083T>CCA395409268ATXN2Lc.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)
16g.28836083T>GCA395409267ATXN2Lc.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)
16g.28836084C>ACA395409270ATXN2Lc.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)
16g.28836084C=CA2215806916ATXN2Lc.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=)
16g.28836084C>GCA395409271ATXN2Lc.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)
16g.28836084C>TCA279230922ATXN2Lc.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
16g.28836085C>ACA494869427ATXN2Lc.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)
16g.28836085C>GCA494869426ATXN2Lc.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)
16g.28836085C>TCA494869424ATXN2Lc.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)
16g.28836086A>CCA395409272ATXN2Lc.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)
16g.28836086A>GCA395409273ATXN2Lc.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
16g.28836086A>TCA395409274ATXN2Lc.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)
16g.28836087C>ACA395409275ATXN2Lc.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)
16g.28836087C>GCA395409277ATXN2Lc.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)
16g.28836087C>TCA395409276ATXN2Lc.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)
16g.28836088A>CCA494869437ATXN2Lc.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)
16g.28836088A>GCA494869441ATXN2Lc.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)
16g.28836088A>TCA494869439ATXN2Lc.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)
16g.28836089C>ACA395409278ATXN2Lc.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
16g.28836089C=CA2215806919ATXN2Lc.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=)
16g.28836089C>GCA395409279ATXN2Lc.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)
16g.28836089C>TCA395409280ATXN2Lc.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
16g.28836090C>ACA395409281ATXN2Lc.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)
16g.28836090C>GCA395409282ATXN2Lc.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)
16g.28836090C>TCA395409283ATXN2Lc.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)
16g.28836091C>ACA494869452ATXN2Lc.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)
16g.28836091C>GCA494869454ATXN2Lc.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
16g.28836091C>TCA494869459ATXN2Lc.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)
16g.28836092T>ACA395409844ATXN2Lc.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)
16g.28836092T>CCA395409845ATXN2Lc.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)
16g.28836092T>GCA395409847ATXN2Lc.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)
16g.28836093C>ACA395409850ATXN2Lc.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)
16g.28836093C>GCA395409852ATXN2Lc.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)
16g.28836093C>TCA395409854ATXN2Lc.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
16g.28836094A>CCA494868418ATXN2Lc.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)
16g.28836094A>GCA494868423ATXN2Lc.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)
16g.28836094A>TCA494868426ATXN2Lc.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)
16g.28836095C>ACA7985168ATXN2Lc.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
16g.28836095C=CA2215806921ATXN2Lc.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=)
16g.28836095C>GCA395409860ATXN2Lc.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)
16g.28836095C>TCA395409857ATXN2Lc.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
16g.28836096C>ACA395409862ATXN2Lc.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
16g.28836096C=CA2215806924ATXN2Lc.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=)
16g.28836096C>GCA395409864ATXN2Lc.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
16g.28836096C>TCA395409865ATXN2Lc.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
16g.28836097C>ACA494868442ATXN2Lc.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)
16g.28836097C=CA2215806926ATXN2Lc.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=)
16g.28836097C>GCA494868444ATXN2Lc.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)
16g.28836097C>TCA494868446ATXN2Lc.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
16g.28836098T>ACA395409867ATXN2Lc.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)
16g.28836098T>CCA395409869ATXN2Lc.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)
16g.28836098T>GCA395409871ATXN2Lc.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)
16g.28836099A=CA2215806932ATXN2Lc.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=)
16g.28836099A>CCA395409876ATXN2Lc.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)
16g.28836099A>GCA279232139ATXN2Lc.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
16g.28836099A>TCA395409875ATXN2Lc.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
16g.28836100C>ACA395409878ATXN2Lc.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)
16g.28836100C=CA2215806937ATXN2Lc.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=)
16g.28836100C>GCA395409879ATXN2Lc.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)
16g.28836100C>TCA494868460ATXN2Lc.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
16g.28836101C>ACA395409881ATXN2Lc.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)
16g.28836101C=CA2215806941ATXN2Lc.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=)
16g.28836101C>GCA395409883ATXN2Lc.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)
16g.28836101C>TCA7985169ATXN2Lc.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
16g.28836102C>ACA395409886ATXN2Lc.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)
16g.28836102C>GCA395409890ATXN2Lc.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)
16g.28836102C>TCA395409889ATXN2Lc.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
16g.28836103C>ACA279232140ATXN2Lc.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
16g.28836103C=CA2215806943ATXN2Lc.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=)
16g.28836103C>GCA494868489ATXN2Lc.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)
16g.28836103C>TCA7985170ATXN2Lc.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
16g.28836104T>ACA395409895ATXN2Lc.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)
16g.28836104T>CCA395409897ATXN2Lc.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)
16g.28836104T>GCA395409902ATXN2Lc.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)
16g.28836105A>CCA395409904ATXN2Lc.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)
16g.28836105A>GCA395409907ATXN2Lc.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)
16g.28836105A>TCA395409908ATXN2Lc.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
16g.28836106C>ACA395409910ATXN2Lc.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)
16g.28836106C=CA2215806947ATXN2Lc.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=)
16g.28836106C>GCA395409911ATXN2Lc.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)
16g.28836106C>TCA494868515ATXN2Lc.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
16g.28836107A=CA2215806950ATXN2Lc.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=)
16g.28836107A>CCA395409914ATXN2Lc.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)
16g.28836107A>GCA395409916ATXN2Lc.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
16g.28836107A>TCA395409915ATXN2Lc.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)
16g.28836108T>ACA395409918ATXN2Lc.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)
16g.28836108T>CCA395409921ATXN2Lc.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
16g.28836108T>GCA395409919ATXN2Lc.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)
16g.28836109C>ACA494868534ATXN2Lc.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)
16g.28836109C=CA2215806955ATXN2Lc.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=)
16g.28836109C>GCA395409923ATXN2Lc.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)
16g.28836109C>TCA7985171ATXN2Lc.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
16g.28836110G>ACA7985172ATXN2Lc.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
16g.28836110G>CCA395409926ATXN2Lc.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)
16g.28836110G=CA2215806960ATXN2Lc.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=)
16g.28836110G>TCA395409928ATXN2Lc.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)
16g.28836111G>ACA395409930ATXN2Lc.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)
16g.28836111G>CCA395409933ATXN2Lc.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)
16g.28836111G>TCA395409934ATXN2Lc.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)
16g.28836112A>CCA494868594ATXN2Lc.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)
16g.28836112A>GCA494868600ATXN2Lc.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)
16g.28836112A>TCA494868603ATXN2Lc.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)
16g.28836113C>ACA395409937ATXN2Lc.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)
16g.28836113C=CA2215806962ATXN2Lc.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=)
16g.28836113C>GCA395409938ATXN2Lc.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)
16g.28836113C>TCA395409942ATXN2Lc.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
16g.28836114A>CCA395409945ATXN2Lc.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)
16g.28836114A>GCA395409947ATXN2Lc.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)
16g.28836114A>TCA395409946ATXN2Lc.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)
16g.28836115C>ACA395409950ATXN2Lc.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)
16g.28836115C=CA2215806969ATXN2Lc.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=)
16g.28836115C>GCA395409952ATXN2Lc.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
16g.28836115C>TCA494868629ATXN2Lc.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
16g.28836116C>ACA395409955ATXN2Lc.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
16g.28836116C=CA2215806972ATXN2Lc.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=)
16g.28836116C>GCA395409957ATXN2Lc.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)
16g.28836116C>TCA395409958ATXN2Lc.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
16g.28836117C>ACA395409959ATXN2Lc.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)
16g.28836117C=CA2215806974ATXN2Lc.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=)
16g.28836117C>GCA395409964ATXN2Lc.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)
16g.28836117C>TCA395409966ATXN2Lc.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
16g.28836118C>ACA494868675ATXN2Lc.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
16g.28836118C=CA2215806978ATXN2Lc.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=)
16g.28836118C>GCA7985173ATXN2Lc.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
16g.28836118C>TCA494868684ATXN2Lc.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)
16g.28836119C>ACA395409970ATXN2Lc.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)
16g.28836119C>GCA395409972ATXN2Lc.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)
16g.28836119C>TCA395409968ATXN2Lc.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
16g.28836120A>CCA395409974ATXN2Lc.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)
16g.28836120A>GCA395409976ATXN2Lc.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)
16g.28836120A>TCA395409978ATXN2Lc.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)
16g.28836121A>CCA395409980ATXN2Lc.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)
16g.28836121A>GCA494868726ATXN2Lc.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)
16g.28836121A>TCA395409982ATXN2Lc.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
16g.28836122G>ACA395409984ATXN2Lc.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)
16g.28836122G>CCA395409985ATXN2Lc.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)
16g.28836122G>TCA395409987ATXN2Lc.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
16g.28836123G>ACA395409988ATXN2Lc.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)
16g.28836123G>CCA395409989ATXN2Lc.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)
16g.28836123G>TCA395409990ATXN2Lc.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)
16g.28836124T>ACA395409992ATXN2Lc.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)
16g.28836124T>CCA395409994ATXN2Lc.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)
16g.28836124T>GCA395409991ATXN2Lc.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)
16g.28836125G>ACA395409995ATXN2Lc.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
16g.28836125G>CCA395409996ATXN2Lc.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=)
16g.28836125G>TCA395409998ATXN2Lc.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=)
16g.28836126A>CCA395410001ATXN2Lc.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)
16g.28836126A>GCA395410002ATXN2Lc.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)
16g.28836126A>TCA395410004ATXN2Lc.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)
16g.28836127G>ACA494868790ATXN2Lc.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)
16g.28836127G>CCA395410006ATXN2Lc.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)
16g.28836127G>TCA395410015ATXN2Lc.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)
16g.28836128C>ACA395410017ATXN2Lc.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)
16g.28836128C>GCA395410019ATXN2Lc.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)
16g.28836128C>TCA395410021ATXN2Lc.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=)
16g.28836129A>CCA395410023ATXN2Lc.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
16g.28836129A>GCA395410025ATXN2Lc.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)
16g.28836129A>TCA395410027ATXN2Lc.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)
16g.28836130G>ACA7985174ATXN2Lc.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
16g.28836130G>CCA395410031ATXN2Lc.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)
16g.28836130G=CA2215806983ATXN2Lc.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=)
16g.28836130G>TCA395410029ATXN2Lc.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)
16g.28836131C>ACA395410033ATXN2Lc.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)
16g.28836131C>GCA395410035ATXN2Lc.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)
16g.28836131C>TCA395410037ATXN2Lc.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=)
16g.28836132C>ACA395410039ATXN2Lc.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)
16g.28836132C>GCA395410040ATXN2Lc.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)
16g.28836132C>TCA395410042ATXN2Lc.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=)
16g.28836133T>ACA494868861ATXN2Lc.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)
16g.28836133T>CCA494868864ATXN2Lc.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
16g.28836133T>GCA494868868ATXN2Lc.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
16g.28836133T=CA2215806988ATXN2Lc.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=)
16g.28836134G>ACA395410044ATXN2Lc.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=)
16g.28836134G>CCA395410046ATXN2Lc.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=)
16g.28836134G>TCA395410048ATXN2Lc.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=)
16g.28836135G>ACA7985176ATXN2Lc.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
16g.28836135G>CCA7985175ATXN2Lc.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
16g.28836135G=CA2215806997ATXN2Lc.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=)
16g.28836135G>TCA395410052ATXN2Lc.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)
16g.28836136C>ACA494868910ATXN2Lc.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)
16g.28836136C=CA2215807000ATXN2Lc.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=)
16g.28836136C>GCA494868912ATXN2Lc.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)
16g.28836136C>TCA7985177ATXN2Lc.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
16g.28836137C>ACA395410059ATXN2Lc.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=)
16g.28836137C=CA2215807001ATXN2Lc.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=)
16g.28836137C>GCA395410057ATXN2Lc.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
16g.28836137C>TCA395410055ATXN2Lc.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
16g.28836138A>CCA395410062ATXN2Lc.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=)
16g.28836138A>GCA395410063ATXN2Lc.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)
16g.28836138A>TCA395410065ATXN2Lc.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)
16g.28836139G>ACA494868940ATXN2Lc.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
16g.28836139G>CCA395410067ATXN2Lc.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)
16g.28836139G=CA2215807003ATXN2Lc.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=)
16g.28836139G>TCA395410069ATXN2Lc.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)
16g.28836140G>ACA395410071ATXN2Lc.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=)
16g.28836140G>CCA395410073ATXN2Lc.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)
16g.28836140G>TCA395410074ATXN2Lc.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
16g.28836141C>ACA395410077ATXN2Lc.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)
16g.28836141C=CA2215807005ATXN2Lc.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=)
16g.28836141C>GCA395410079ATXN2Lc.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)
16g.28836141C>TCA7985178ATXN2Lc.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
16g.28836142G>ACA7985179ATXN2Lc.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
16g.28836142G>CCA494868961ATXN2Lc.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)
16g.28836142G=CA2215807010ATXN2Lc.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=)
16g.28836142G>TCA494868964ATXN2Lc.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
16g.28836143C>ACA395410083ATXN2Lc.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=)
16g.28836143C=CA2215807011ATXN2Lc.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=)
16g.28836143C>GCA395410084ATXN2Lc.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
16g.28836143C>TCA7985180ATXN2Lc.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
16g.28836144C>ACA395410088ATXN2Lc.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)
16g.28836144C=CA2215807014ATXN2Lc.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=)
16g.28836144C>GCA395410090ATXN2Lc.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)
16g.28836144C>TCA395410087ATXN2Lc.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
16g.28836145T>ACA494869035ATXN2Lc.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)
16g.28836145T>CCA494869037ATXN2Lc.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)
16g.28836145T>GCA494869015ATXN2Lc.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
16g.28836146G>ACA395410092ATXN2Lc.3109G>A (p.Gly1037Arg)
c.3085+24G>A (n.3085+24G>A)
c.1084G>A (p.Gly362Arg)
n.3483G>A
c.280+24G>A (n.280+24G>A)
c.3127G>A (p.Gly1043Arg)
c.2173G>A (n.2173G>A)
c.354+24G>A
c.1087G>A (p.Gly363Arg)
c.3130G>A (p.Gly1044Arg)
c.3112G>A (p.Gly1038Arg)
c.3106+24G>A (n.3106+24G>A)
c.3103+24G>A (n.3103+24G>A)
c.2950G>A (p.Gly984Arg)
c.3058G>A (p.Gly1020Arg)
c.3040G>A (p.Gly1014Arg)
c.2764G>A (p.Gly922Arg)
n.3339G>A
c.2932G>A (p.Gly978Arg)
c.2746G>A (p.Gly916Arg)
n.3342G>A
c.3088+24G>A (n.3088+24G>A)
c.3037G>A (p.Gly1013Arg)
c.3103G>A (p.Gly1035Arg)
c.3013+24G>A (n.3013+24G>A)
c.3055G>A (p.Gly1019Arg)
c.3016+24G>A (n.3016+24G>A)
c.3031+24G>A (n.3031+24G>A)
c.2920G>A (p.Gly974Arg)
c.2919G>A (p.Leu973=)
 gnomAD v4
16g.28836146G>CCA395410094ATXN2Lc.3109G>C (p.Gly1037Arg)
c.3085+24G>C (n.3085+24G>C)
c.1084G>C (p.Gly362Arg)
n.3483G>C
c.280+24G>C (n.280+24G>C)
c.3127G>C (p.Gly1043Arg)
c.2173G>C (n.2173G>C)
c.354+24G>C
c.1087G>C (p.Gly363Arg)
c.3130G>C (p.Gly1044Arg)
c.3112G>C (p.Gly1038Arg)
c.3106+24G>C (n.3106+24G>C)
c.3103+24G>C (n.3103+24G>C)
c.2950G>C (p.Gly984Arg)
c.3058G>C (p.Gly1020Arg)
c.3040G>C (p.Gly1014Arg)
c.2764G>C (p.Gly922Arg)
n.3339G>C
c.2932G>C (p.Gly978Arg)
c.2746G>C (p.Gly916Arg)
n.3342G>C
c.3088+24G>C (n.3088+24G>C)
c.3037G>C (p.Gly1013Arg)
c.3103G>C (p.Gly1035Arg)
c.3013+24G>C (n.3013+24G>C)
c.3055G>C (p.Gly1019Arg)
c.3016+24G>C (n.3016+24G>C)
c.3031+24G>C (n.3031+24G>C)
c.2920G>C (p.Gly974Arg)
c.2919G>C (p.Leu973=)
16g.28836146G>TCA395410100ATXN2Lc.3109G>T (p.Gly1037Ter)
c.3085+24G>T (n.3085+24G>T)
c.1084G>T (p.Gly362Ter)
n.3483G>T
c.280+24G>T (n.280+24G>T)
c.3127G>T (p.Gly1043Ter)
c.2173G>T (n.2173G>T)
c.354+24G>T
c.1087G>T (p.Gly363Ter)
c.3130G>T (p.Gly1044Ter)
c.3112G>T (p.Gly1038Ter)
c.3106+24G>T (n.3106+24G>T)
c.3103+24G>T (n.3103+24G>T)
c.2950G>T (p.Gly984Ter)
c.3058G>T (p.Gly1020Ter)
c.3040G>T (p.Gly1014Ter)
c.2764G>T (p.Gly922Ter)
n.3339G>T
c.2932G>T (p.Gly978Ter)
c.2746G>T (p.Gly916Ter)
n.3342G>T
c.3088+24G>T (n.3088+24G>T)
c.3037G>T (p.Gly1013Ter)
c.3103G>T (p.Gly1035Ter)
c.3013+24G>T (n.3013+24G>T)
c.3055G>T (p.Gly1019Ter)
c.3016+24G>T (n.3016+24G>T)
c.3031+24G>T (n.3031+24G>T)
c.2920G>T (p.Gly974Ter)
c.2919G>T (p.Leu973=)
16g.28836147delCA2632529438ATXN2Lc.3110del (p.Gly1037AspfsTer15)
c.3110del (p.Gly1037AspfsTer19)
c.3085+25del (n.3085+25del)
c.3110del (p.Gly1037AspfsTer?)
c.1085del (p.Gly362AspfsTer15)
n.3484del
c.280+25del (n.280+25del)
c.3128del (p.Gly1043AspfsTer?)
c.2174del (n.2174del)
c.354+25del
c.1088del (p.Gly363AspfsTer15)
c.3131del (p.Gly1044AspfsTer?)
c.3113del (p.Gly1038AspfsTer?)
c.3106+25del (n.3106+25del)
c.3131del (p.Gly1044AspfsTer15)
c.3131del (p.Gly1044AspfsTer19)
c.3103+25del (n.3103+25del)
c.2951del (p.Gly984AspfsTer?)
c.3059del (p.Gly1020AspfsTer?)
c.3041del (p.Gly1014AspfsTer?)
c.2765del (p.Gly922AspfsTer?)
n.3340del
c.2933del (p.Gly978AspfsTer?)
c.2747del (p.Gly916AspfsTer?)
n.3343del
c.3128del (p.Gly1043AspfsTer15)
c.3088+25del (n.3088+25del)
c.3113del (p.Gly1038AspfsTer15)
c.3038del (p.Gly1013AspfsTer?)
c.3104del (p.Gly1035AspfsTer15)
c.3128del (p.Gly1043AspfsTer19)
c.3113del (p.Gly1038AspfsTer19)
c.3013+25del (n.3013+25del)
c.3041del (p.Gly1014AspfsTer15)
c.3038del (p.Gly1013AspfsTer15)
c.3056del (p.Gly1019AspfsTer19)
c.3016+25del (n.3016+25del)
c.3031+25del (n.3031+25del)
c.2921del (p.Gly974AspfsTer15)
c.2920del (p.Asp974IlefsTer7)
 gnomAD v4
16g.28836147G>ACA395410102ATXN2Lc.3110G>A (p.Gly1037Glu)
c.3085+25G>A (n.3085+25G>A)
c.1085G>A (p.Gly362Glu)
n.3484G>A
c.280+25G>A (n.280+25G>A)
c.3128G>A (p.Gly1043Glu)
c.2174G>A (n.2174G>A)
c.354+25G>A
c.1088G>A (p.Gly363Glu)
c.3131G>A (p.Gly1044Glu)
c.3113G>A (p.Gly1038Glu)
c.3106+25G>A (n.3106+25G>A)
c.3103+25G>A (n.3103+25G>A)
c.2951G>A (p.Gly984Glu)
c.3059G>A (p.Gly1020Glu)
c.3041G>A (p.Gly1014Glu)
c.2765G>A (p.Gly922Glu)
n.3340G>A
c.2933G>A (p.Gly978Glu)
c.2747G>A (p.Gly916Glu)
n.3343G>A
c.3088+25G>A (n.3088+25G>A)
c.3038G>A (p.Gly1013Glu)
c.3104G>A (p.Gly1035Glu)
c.3013+25G>A (n.3013+25G>A)
c.3056G>A (p.Gly1019Glu)
c.3016+25G>A (n.3016+25G>A)
c.3031+25G>A (n.3031+25G>A)
c.2921G>A (p.Gly974Glu)
c.2920G>A (p.Asp974Asn)
16g.28836147G>CCA395410105ATXN2Lc.3110G>C (p.Gly1037Ala)
c.3085+25G>C (n.3085+25G>C)
c.1085G>C (p.Gly362Ala)
n.3484G>C
c.280+25G>C (n.280+25G>C)
c.3128G>C (p.Gly1043Ala)
c.2174G>C (n.2174G>C)
c.354+25G>C
c.1088G>C (p.Gly363Ala)
c.3131G>C (p.Gly1044Ala)
c.3113G>C (p.Gly1038Ala)
c.3106+25G>C (n.3106+25G>C)
c.3103+25G>C (n.3103+25G>C)
c.2951G>C (p.Gly984Ala)
c.3059G>C (p.Gly1020Ala)
c.3041G>C (p.Gly1014Ala)
c.2765G>C (p.Gly922Ala)
n.3340G>C
c.2933G>C (p.Gly978Ala)
c.2747G>C (p.Gly916Ala)
n.3343G>C
c.3088+25G>C (n.3088+25G>C)
c.3038G>C (p.Gly1013Ala)
c.3104G>C (p.Gly1035Ala)
c.3013+25G>C (n.3013+25G>C)
c.3056G>C (p.Gly1019Ala)
c.3016+25G>C (n.3016+25G>C)
c.3031+25G>C (n.3031+25G>C)
c.2921G>C (p.Gly974Ala)
c.2920G>C (p.Asp974His)
16g.28836147G>TCA395410107ATXN2Lc.3110G>T (p.Gly1037Val)
c.3085+25G>T (n.3085+25G>T)
c.1085G>T (p.Gly362Val)
n.3484G>T
c.280+25G>T (n.280+25G>T)
c.3128G>T (p.Gly1043Val)
c.2174G>T (n.2174G>T)
c.354+25G>T
c.1088G>T (p.Gly363Val)
c.3131G>T (p.Gly1044Val)
c.3113G>T (p.Gly1038Val)
c.3106+25G>T (n.3106+25G>T)
c.3103+25G>T (n.3103+25G>T)
c.2951G>T (p.Gly984Val)
c.3059G>T (p.Gly1020Val)
c.3041G>T (p.Gly1014Val)
c.2765G>T (p.Gly922Val)
n.3340G>T
c.2933G>T (p.Gly978Val)
c.2747G>T (p.Gly916Val)
n.3343G>T
c.3088+25G>T (n.3088+25G>T)
c.3038G>T (p.Gly1013Val)
c.3104G>T (p.Gly1035Val)
c.3013+25G>T (n.3013+25G>T)
c.3056G>T (p.Gly1019Val)
c.3016+25G>T (n.3016+25G>T)
c.3031+25G>T (n.3031+25G>T)
c.2921G>T (p.Gly974Val)
c.2920G>T (p.Asp974Tyr)
16g.28836148A>CCA494869055ATXN2Lc.3111A>C (p.Gly1037=)
c.3085+26A>C (n.3085+26A>C)
c.1086A>C (p.Gly362=)
n.3485A>C
c.280+26A>C (n.280+26A>C)
c.3129A>C (p.Gly1043=)
c.2175A>C (n.2175A>C)
c.354+26A>C
c.1089A>C (p.Gly363=)
c.3132A>C (p.Gly1044=)
c.3114A>C (p.Gly1038=)
c.3106+26A>C (n.3106+26A>C)
c.3103+26A>C (n.3103+26A>C)
c.2952A>C (p.Gly984=)
c.3060A>C (p.Gly1020=)
c.3042A>C (p.Gly1014=)
c.2766A>C (p.Gly922=)
n.3341A>C
c.2934A>C (p.Gly978=)
c.2748A>C (p.Gly916=)
n.3344A>C
c.3088+26A>C (n.3088+26A>C)
c.3039A>C (p.Gly1013=)
c.3105A>C (p.Gly1035=)
c.3013+26A>C (n.3013+26A>C)
c.3057A>C (p.Gly1019=)
c.3016+26A>C (n.3016+26A>C)
c.3031+26A>C (n.3031+26A>C)
c.2922A>C (p.Gly974=)
c.2921A>C (p.Asp974Ala)
16g.28836148A>GCA494869062ATXN2Lc.3111A>G (p.Gly1037=)
c.3085+26A>G (n.3085+26A>G)
c.1086A>G (p.Gly362=)
n.3485A>G
c.280+26A>G (n.280+26A>G)
c.3129A>G (p.Gly1043=)
c.2175A>G (n.2175A>G)
c.354+26A>G
c.1089A>G (p.Gly363=)
c.3132A>G (p.Gly1044=)
c.3114A>G (p.Gly1038=)
c.3106+26A>G (n.3106+26A>G)
c.3103+26A>G (n.3103+26A>G)
c.2952A>G (p.Gly984=)
c.3060A>G (p.Gly1020=)
c.3042A>G (p.Gly1014=)
c.2766A>G (p.Gly922=)
n.3341A>G
c.2934A>G (p.Gly978=)
c.2748A>G (p.Gly916=)
n.3344A>G
c.3088+26A>G (n.3088+26A>G)
c.3039A>G (p.Gly1013=)
c.3105A>G (p.Gly1035=)
c.3013+26A>G (n.3013+26A>G)
c.3057A>G (p.Gly1019=)
c.3016+26A>G (n.3016+26A>G)
c.3031+26A>G (n.3031+26A>G)
c.2922A>G (p.Gly974=)
c.2921A>G (p.Asp974Gly)
16g.28836148A>TCA494869056ATXN2Lc.3111A>T (p.Gly1037=)
c.3085+26A>T (n.3085+26A>T)
c.1086A>T (p.Gly362=)
n.3485A>T
c.280+26A>T (n.280+26A>T)
c.3129A>T (p.Gly1043=)
c.2175A>T (n.2175A>T)
c.354+26A>T
c.1089A>T (p.Gly363=)
c.3132A>T (p.Gly1044=)
c.3114A>T (p.Gly1038=)
c.3106+26A>T (n.3106+26A>T)
c.3103+26A>T (n.3103+26A>T)
c.2952A>T (p.Gly984=)
c.3060A>T (p.Gly1020=)
c.3042A>T (p.Gly1014=)
c.2766A>T (p.Gly922=)
n.3341A>T
c.2934A>T (p.Gly978=)
c.2748A>T (p.Gly916=)
n.3344A>T
c.3088+26A>T (n.3088+26A>T)
c.3039A>T (p.Gly1013=)
c.3105A>T (p.Gly1035=)
c.3013+26A>T (n.3013+26A>T)
c.3057A>T (p.Gly1019=)
c.3016+26A>T (n.3016+26A>T)
c.3031+26A>T (n.3031+26A>T)
c.2922A>T (p.Gly974=)
c.2921A>T (p.Asp974Val)
16g.28836149T>ACA395410110ATXN2Lc.3112T>A (p.Phe1038Ile)
c.3085+27T>A (n.3085+27T>A)
c.1087T>A (p.Phe363Ile)
n.3486T>A
c.280+27T>A (n.280+27T>A)
c.3130T>A (p.Phe1044Ile)
c.2176T>A (n.2176T>A)
c.354+27T>A
c.1090T>A (p.Phe364Ile)
c.3133T>A (p.Phe1045Ile)
c.3115T>A (p.Phe1039Ile)
c.3106+27T>A (n.3106+27T>A)
c.3103+27T>A (n.3103+27T>A)
c.2953T>A (p.Phe985Ile)
c.3061T>A (p.Phe1021Ile)
c.3043T>A (p.Phe1015Ile)
c.2767T>A (p.Phe923Ile)
n.3342T>A
c.2935T>A (p.Phe979Ile)
c.2749T>A (p.Phe917Ile)
n.3345T>A
c.3088+27T>A (n.3088+27T>A)
c.3040T>A (p.Phe1014Ile)
c.3106T>A (p.Phe1036Ile)
c.3013+27T>A (n.3013+27T>A)
c.3058T>A (p.Phe1020Ile)
c.3016+27T>A (n.3016+27T>A)
c.3031+27T>A (n.3031+27T>A)
c.2923T>A (p.Phe975Ile)
c.2922T>A (p.Asp974Glu)
16g.28836149T>CCA395410111ATXN2Lc.3112T>C (p.Phe1038Leu)
c.3085+27T>C (n.3085+27T>C)
c.1087T>C (p.Phe363Leu)
n.3486T>C
c.280+27T>C (n.280+27T>C)
c.3130T>C (p.Phe1044Leu)
c.2176T>C (n.2176T>C)
c.354+27T>C
c.1090T>C (p.Phe364Leu)
c.3133T>C (p.Phe1045Leu)
c.3115T>C (p.Phe1039Leu)
c.3106+27T>C (n.3106+27T>C)
c.3103+27T>C (n.3103+27T>C)
c.2953T>C (p.Phe985Leu)
c.3061T>C (p.Phe1021Leu)
c.3043T>C (p.Phe1015Leu)
c.2767T>C (p.Phe923Leu)
n.3342T>C
c.2935T>C (p.Phe979Leu)
c.2749T>C (p.Phe917Leu)
n.3345T>C
c.3088+27T>C (n.3088+27T>C)
c.3040T>C (p.Phe1014Leu)
c.3106T>C (p.Phe1036Leu)
c.3013+27T>C (n.3013+27T>C)
c.3058T>C (p.Phe1020Leu)
c.3016+27T>C (n.3016+27T>C)
c.3031+27T>C (n.3031+27T>C)
c.2923T>C (p.Phe975Leu)
c.2922T>C (p.Asp974=)
16g.28836149T>GCA395410113ATXN2Lc.3112T>G (p.Phe1038Val)
c.3085+27T>G (n.3085+27T>G)
c.1087T>G (p.Phe363Val)
n.3486T>G
c.280+27T>G (n.280+27T>G)
c.3130T>G (p.Phe1044Val)
c.2176T>G (n.2176T>G)
c.354+27T>G
c.1090T>G (p.Phe364Val)
c.3133T>G (p.Phe1045Val)
c.3115T>G (p.Phe1039Val)
c.3106+27T>G (n.3106+27T>G)
c.3103+27T>G (n.3103+27T>G)
c.2953T>G (p.Phe985Val)
c.3061T>G (p.Phe1021Val)
c.3043T>G (p.Phe1015Val)
c.2767T>G (p.Phe923Val)
n.3342T>G
c.2935T>G (p.Phe979Val)
c.2749T>G (p.Phe917Val)
n.3345T>G
c.3088+27T>G (n.3088+27T>G)
c.3040T>G (p.Phe1014Val)
c.3106T>G (p.Phe1036Val)
c.3013+27T>G (n.3013+27T>G)
c.3058T>G (p.Phe1020Val)
c.3016+27T>G (n.3016+27T>G)
c.3031+27T>G (n.3031+27T>G)
c.2923T>G (p.Phe975Val)
c.2922T>G (p.Asp974Glu)
16g.28836150T>ACA395410116ATXN2Lc.3113T>A (p.Phe1038Tyr)
c.3085+28T>A (n.3085+28T>A)
c.1088T>A (p.Phe363Tyr)
n.3487T>A
c.280+28T>A (n.280+28T>A)
c.3131T>A (p.Phe1044Tyr)
c.2177T>A (n.2177T>A)
c.354+28T>A
c.1091T>A (p.Phe364Tyr)
c.3134T>A (p.Phe1045Tyr)
c.3116T>A (p.Phe1039Tyr)
c.3106+28T>A (n.3106+28T>A)
c.3103+28T>A (n.3103+28T>A)
c.2954T>A (p.Phe985Tyr)
c.3062T>A (p.Phe1021Tyr)
c.3044T>A (p.Phe1015Tyr)
c.2768T>A (p.Phe923Tyr)
n.3343T>A
c.2936T>A (p.Phe979Tyr)
c.2750T>A (p.Phe917Tyr)
n.3346T>A
c.3088+28T>A (n.3088+28T>A)
c.3041T>A (p.Phe1014Tyr)
c.3107T>A (p.Phe1036Tyr)
c.3013+28T>A (n.3013+28T>A)
c.3059T>A (p.Phe1020Tyr)
c.3016+28T>A (n.3016+28T>A)
c.3031+28T>A (n.3031+28T>A)
c.2924T>A (p.Phe975Tyr)
c.2923T>A (p.Phe975Ile)
16g.28836150T>CCA395410117ATXN2Lc.3113T>C (p.Phe1038Ser)
c.3085+28T>C (n.3085+28T>C)
c.1088T>C (p.Phe363Ser)
n.3487T>C
c.280+28T>C (n.280+28T>C)
c.3131T>C (p.Phe1044Ser)
c.2177T>C (n.2177T>C)
c.354+28T>C
c.1091T>C (p.Phe364Ser)
c.3134T>C (p.Phe1045Ser)
c.3116T>C (p.Phe1039Ser)
c.3106+28T>C (n.3106+28T>C)
c.3103+28T>C (n.3103+28T>C)
c.2954T>C (p.Phe985Ser)
c.3062T>C (p.Phe1021Ser)
c.3044T>C (p.Phe1015Ser)
c.2768T>C (p.Phe923Ser)
n.3343T>C
c.2936T>C (p.Phe979Ser)
c.2750T>C (p.Phe917Ser)
n.3346T>C
c.3088+28T>C (n.3088+28T>C)
c.3041T>C (p.Phe1014Ser)
c.3107T>C (p.Phe1036Ser)
c.3013+28T>C (n.3013+28T>C)
c.3059T>C (p.Phe1020Ser)
c.3016+28T>C (n.3016+28T>C)
c.3031+28T>C (n.3031+28T>C)
c.2924T>C (p.Phe975Ser)
c.2923T>C (p.Phe975Leu)
16g.28836150T>GCA395410119ATXN2Lc.3113T>G (p.Phe1038Cys)
c.3085+28T>G (n.3085+28T>G)
c.1088T>G (p.Phe363Cys)
n.3487T>G
c.280+28T>G (n.280+28T>G)
c.3131T>G (p.Phe1044Cys)
c.2177T>G (n.2177T>G)
c.354+28T>G
c.1091T>G (p.Phe364Cys)
c.3134T>G (p.Phe1045Cys)
c.3116T>G (p.Phe1039Cys)
c.3106+28T>G (n.3106+28T>G)
c.3103+28T>G (n.3103+28T>G)
c.2954T>G (p.Phe985Cys)
c.3062T>G (p.Phe1021Cys)
c.3044T>G (p.Phe1015Cys)
c.2768T>G (p.Phe923Cys)
n.3343T>G
c.2936T>G (p.Phe979Cys)
c.2750T>G (p.Phe917Cys)
n.3346T>G
c.3088+28T>G (n.3088+28T>G)
c.3041T>G (p.Phe1014Cys)
c.3107T>G (p.Phe1036Cys)
c.3013+28T>G (n.3013+28T>G)
c.3059T>G (p.Phe1020Cys)
c.3016+28T>G (n.3016+28T>G)
c.3031+28T>G (n.3031+28T>G)
c.2924T>G (p.Phe975Cys)
c.2923T>G (p.Phe975Val)
16g.28836151T>ACA395410123ATXN2Lc.3114T>A (p.Phe1038Leu)
c.3085+29T>A (n.3085+29T>A)
c.1089T>A (p.Phe363Leu)
n.3488T>A
c.280+29T>A (n.280+29T>A)
c.3132T>A (p.Phe1044Leu)
c.2178T>A (n.2178T>A)
c.354+29T>A
c.1092T>A (p.Phe364Leu)
c.3135T>A (p.Phe1045Leu)
c.3117T>A (p.Phe1039Leu)
c.3106+29T>A (n.3106+29T>A)
c.3103+29T>A (n.3103+29T>A)
c.2955T>A (p.Phe985Leu)
c.3063T>A (p.Phe1021Leu)
c.3045T>A (p.Phe1015Leu)
c.2769T>A (p.Phe923Leu)
n.3344T>A
c.2937T>A (p.Phe979Leu)
c.2751T>A (p.Phe917Leu)
n.3347T>A
c.3088+29T>A (n.3088+29T>A)
c.3042T>A (p.Phe1014Leu)
c.3108T>A (p.Phe1036Leu)
c.3013+29T>A (n.3013+29T>A)
c.3060T>A (p.Phe1020Leu)
c.3016+29T>A (n.3016+29T>A)
c.3031+29T>A (n.3031+29T>A)
c.2925T>A (p.Phe975Leu)
c.2924T>A (p.Phe975Tyr)
16g.28836151T>CCA7985181ATXN2Lc.3114T>C (p.Phe1038=)
c.3085+29T>C (n.3085+29T>C)
c.1089T>C (p.Phe363=)
n.3488T>C
c.280+29T>C (n.280+29T>C)
c.3132T>C (p.Phe1044=)
c.2178T>C (n.2178T>C)
c.354+29T>C
c.1092T>C (p.Phe364=)
c.3135T>C (p.Phe1045=)
c.3117T>C (p.Phe1039=)
c.3106+29T>C (n.3106+29T>C)
c.3103+29T>C (n.3103+29T>C)
c.2955T>C (p.Phe985=)
c.3063T>C (p.Phe1021=)
c.3045T>C (p.Phe1015=)
c.2769T>C (p.Phe923=)
n.3344T>C
c.2937T>C (p.Phe979=)
c.2751T>C (p.Phe917=)
n.3347T>C
c.3088+29T>C (n.3088+29T>C)
c.3042T>C (p.Phe1014=)
c.3108T>C (p.Phe1036=)
c.3013+29T>C (n.3013+29T>C)
c.3060T>C (p.Phe1020=)
c.3016+29T>C (n.3016+29T>C)
c.3031+29T>C (n.3031+29T>C)
c.2925T>C (p.Phe975=)
c.2924T>C (p.Phe975Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836151T>GCA395410122ATXN2Lc.3114T>G (p.Phe1038Leu)
c.3085+29T>G (n.3085+29T>G)
c.1089T>G (p.Phe363Leu)
n.3488T>G
c.280+29T>G (n.280+29T>G)
c.3132T>G (p.Phe1044Leu)
c.2178T>G (n.2178T>G)
c.354+29T>G
c.1092T>G (p.Phe364Leu)
c.3135T>G (p.Phe1045Leu)
c.3117T>G (p.Phe1039Leu)
c.3106+29T>G (n.3106+29T>G)
c.3103+29T>G (n.3103+29T>G)
c.2955T>G (p.Phe985Leu)
c.3063T>G (p.Phe1021Leu)
c.3045T>G (p.Phe1015Leu)
c.2769T>G (p.Phe923Leu)
n.3344T>G
c.2937T>G (p.Phe979Leu)
c.2751T>G (p.Phe917Leu)
n.3347T>G
c.3088+29T>G (n.3088+29T>G)
c.3042T>G (p.Phe1014Leu)
c.3108T>G (p.Phe1036Leu)
c.3013+29T>G (n.3013+29T>G)
c.3060T>G (p.Phe1020Leu)
c.3016+29T>G (n.3016+29T>G)
c.3031+29T>G (n.3031+29T>G)
c.2925T>G (p.Phe975Leu)
c.2924T>G (p.Phe975Cys)
16g.28836151T=CA2215807022ATXN2Lc.3114T= (p.Phe1038=)
c.3085+29T= (n.3085+29T=)
c.1089T= (p.Phe363=)
n.3488T=
c.280+29T= (n.280+29T=)
c.3132T= (p.Phe1044=)
c.2178T= (n.2178T=)
c.354+29T=
c.1092T= (p.Phe364=)
c.3135T= (p.Phe1045=)
c.3117T= (p.Phe1039=)
c.3106+29T= (n.3106+29T=)
c.3103+29T= (n.3103+29T=)
c.2955T= (p.Phe985=)
c.3063T= (p.Phe1021=)
c.3045T= (p.Phe1015=)
c.2769T= (p.Phe923=)
n.3344T=
c.2937T= (p.Phe979=)
c.2751T= (p.Phe917=)
n.3347T=
c.3088+29T= (n.3088+29T=)
c.3042T= (p.Phe1014=)
c.3108T= (p.Phe1036=)
c.3013+29T= (n.3013+29T=)
c.3060T= (p.Phe1020=)
c.3016+29T= (n.3016+29T=)
c.3031+29T= (n.3031+29T=)
c.2925T= (p.Phe975=)
c.2924T= (p.Phe975=)
16g.28836152C>ACA395410126ATXN2Lc.3115C>A (p.Pro1039Thr)
c.3085+30C>A (n.3085+30C>A)
c.1090C>A (p.Pro364Thr)
n.3489C>A
c.280+30C>A (n.280+30C>A)
c.3133C>A (p.Pro1045Thr)
c.2179C>A (n.2179C>A)
c.354+30C>A
c.1093C>A (p.Pro365Thr)
c.3136C>A (p.Pro1046Thr)
c.3118C>A (p.Pro1040Thr)
c.3106+30C>A (n.3106+30C>A)
c.3103+30C>A (n.3103+30C>A)
c.2956C>A (p.Pro986Thr)
c.3064C>A (p.Pro1022Thr)
c.3046C>A (p.Pro1016Thr)
c.2770C>A (p.Pro924Thr)
n.3345C>A
c.2938C>A (p.Pro980Thr)
c.2752C>A (p.Pro918Thr)
n.3348C>A
c.3088+30C>A (n.3088+30C>A)
c.3043C>A (p.Pro1015Thr)
c.3109C>A (p.Pro1037Thr)
c.3013+30C>A (n.3013+30C>A)
c.3061C>A (p.Pro1021Thr)
c.3016+30C>A (n.3016+30C>A)
c.3031+30C>A (n.3031+30C>A)
c.2926C>A (p.Pro976Thr)
c.2925C>A (p.Phe975Leu)
16g.28836152C>GCA395410128ATXN2Lc.3115C>G (p.Pro1039Ala)
c.3085+30C>G (n.3085+30C>G)
c.1090C>G (p.Pro364Ala)
n.3489C>G
c.280+30C>G (n.280+30C>G)
c.3133C>G (p.Pro1045Ala)
c.2179C>G (n.2179C>G)
c.354+30C>G
c.1093C>G (p.Pro365Ala)
c.3136C>G (p.Pro1046Ala)
c.3118C>G (p.Pro1040Ala)
c.3106+30C>G (n.3106+30C>G)
c.3103+30C>G (n.3103+30C>G)
c.2956C>G (p.Pro986Ala)
c.3064C>G (p.Pro1022Ala)
c.3046C>G (p.Pro1016Ala)
c.2770C>G (p.Pro924Ala)
n.3345C>G
c.2938C>G (p.Pro980Ala)
c.2752C>G (p.Pro918Ala)
n.3348C>G
c.3088+30C>G (n.3088+30C>G)
c.3043C>G (p.Pro1015Ala)
c.3109C>G (p.Pro1037Ala)
c.3013+30C>G (n.3013+30C>G)
c.3061C>G (p.Pro1021Ala)
c.3016+30C>G (n.3016+30C>G)
c.3031+30C>G (n.3031+30C>G)
c.2926C>G (p.Pro976Ala)
c.2925C>G (p.Phe975Leu)
16g.28836152C>TCA395410130ATXN2Lc.3115C>T (p.Pro1039Ser)
c.3085+30C>T (n.3085+30C>T)
c.1090C>T (p.Pro364Ser)
n.3489C>T
c.280+30C>T (n.280+30C>T)
c.3133C>T (p.Pro1045Ser)
c.2179C>T (n.2179C>T)
c.354+30C>T
c.1093C>T (p.Pro365Ser)
c.3136C>T (p.Pro1046Ser)
c.3118C>T (p.Pro1040Ser)
c.3106+30C>T (n.3106+30C>T)
c.3103+30C>T (n.3103+30C>T)
c.2956C>T (p.Pro986Ser)
c.3064C>T (p.Pro1022Ser)
c.3046C>T (p.Pro1016Ser)
c.2770C>T (p.Pro924Ser)
n.3345C>T
c.2938C>T (p.Pro980Ser)
c.2752C>T (p.Pro918Ser)
n.3348C>T
c.3088+30C>T (n.3088+30C>T)
c.3043C>T (p.Pro1015Ser)
c.3109C>T (p.Pro1037Ser)
c.3013+30C>T (n.3013+30C>T)
c.3061C>T (p.Pro1021Ser)
c.3016+30C>T (n.3016+30C>T)
c.3031+30C>T (n.3031+30C>T)
c.2926C>T (p.Pro976Ser)
c.2925C>T (p.Phe975=)
16g.28836153C>ACA395410132ATXN2Lc.3116C>A (p.Pro1039Gln)
c.3085+31C>A (n.3085+31C>A)
c.1091C>A (p.Pro364Gln)
n.3490C>A
c.280+31C>A (n.280+31C>A)
c.3134C>A (p.Pro1045Gln)
c.2180C>A (n.2180C>A)
c.354+31C>A
c.1094C>A (p.Pro365Gln)
c.3137C>A (p.Pro1046Gln)
c.3119C>A (p.Pro1040Gln)
c.3106+31C>A (n.3106+31C>A)
c.3103+31C>A (n.3103+31C>A)
c.2957C>A (p.Pro986Gln)
c.3065C>A (p.Pro1022Gln)
c.3047C>A (p.Pro1016Gln)
c.2771C>A (p.Pro924Gln)
n.3346C>A
c.2939C>A (p.Pro980Gln)
c.2753C>A (p.Pro918Gln)
n.3349C>A
c.3088+31C>A (n.3088+31C>A)
c.3044C>A (p.Pro1015Gln)
c.3110C>A (p.Pro1037Gln)
c.3013+31C>A (n.3013+31C>A)
c.3062C>A (p.Pro1021Gln)
c.3016+31C>A (n.3016+31C>A)
c.3031+31C>A (n.3031+31C>A)
c.2927C>A (p.Pro976Gln)
c.2926C>A (p.Gln976Lys)
16g.28836153C>GCA395410133ATXN2Lc.3116C>G (p.Pro1039Arg)
c.3085+31C>G (n.3085+31C>G)
c.1091C>G (p.Pro364Arg)
n.3490C>G
c.280+31C>G (n.280+31C>G)
c.3134C>G (p.Pro1045Arg)
c.2180C>G (n.2180C>G)
c.354+31C>G
c.1094C>G (p.Pro365Arg)
c.3137C>G (p.Pro1046Arg)
c.3119C>G (p.Pro1040Arg)
c.3106+31C>G (n.3106+31C>G)
c.3103+31C>G (n.3103+31C>G)
c.2957C>G (p.Pro986Arg)
c.3065C>G (p.Pro1022Arg)
c.3047C>G (p.Pro1016Arg)
c.2771C>G (p.Pro924Arg)
n.3346C>G
c.2939C>G (p.Pro980Arg)
c.2753C>G (p.Pro918Arg)
n.3349C>G
c.3088+31C>G (n.3088+31C>G)
c.3044C>G (p.Pro1015Arg)
c.3110C>G (p.Pro1037Arg)
c.3013+31C>G (n.3013+31C>G)
c.3062C>G (p.Pro1021Arg)
c.3016+31C>G (n.3016+31C>G)
c.3031+31C>G (n.3031+31C>G)
c.2927C>G (p.Pro976Arg)
c.2926C>G (p.Gln976Glu)
16g.28836153C>TCA395410135ATXN2Lc.3116C>T (p.Pro1039Leu)
c.3085+31C>T (n.3085+31C>T)
c.1091C>T (p.Pro364Leu)
n.3490C>T
c.280+31C>T (n.280+31C>T)
c.3134C>T (p.Pro1045Leu)
c.2180C>T (n.2180C>T)
c.354+31C>T
c.1094C>T (p.Pro365Leu)
c.3137C>T (p.Pro1046Leu)
c.3119C>T (p.Pro1040Leu)
c.3106+31C>T (n.3106+31C>T)
c.3103+31C>T (n.3103+31C>T)
c.2957C>T (p.Pro986Leu)
c.3065C>T (p.Pro1022Leu)
c.3047C>T (p.Pro1016Leu)
c.2771C>T (p.Pro924Leu)
n.3346C>T
c.2939C>T (p.Pro980Leu)
c.2753C>T (p.Pro918Leu)
n.3349C>T
c.3088+31C>T (n.3088+31C>T)
c.3044C>T (p.Pro1015Leu)
c.3110C>T (p.Pro1037Leu)
c.3013+31C>T (n.3013+31C>T)
c.3062C>T (p.Pro1021Leu)
c.3016+31C>T (n.3016+31C>T)
c.3031+31C>T (n.3031+31C>T)
c.2927C>T (p.Pro976Leu)
c.2926C>T (p.Gln976Ter)
16g.28836154A>CCA494869114ATXN2Lc.3117A>C (p.Pro1039=)
c.3085+32A>C (n.3085+32A>C)
c.1092A>C (p.Pro364=)
n.3491A>C
c.280+32A>C (n.280+32A>C)
c.3135A>C (p.Pro1045=)
c.2181A>C (n.2181A>C)
c.354+32A>C
c.1095A>C (p.Pro365=)
c.3138A>C (p.Pro1046=)
c.3120A>C (p.Pro1040=)
c.3106+32A>C (n.3106+32A>C)
c.3103+32A>C (n.3103+32A>C)
c.2958A>C (p.Pro986=)
c.3066A>C (p.Pro1022=)
c.3048A>C (p.Pro1016=)
c.2772A>C (p.Pro924=)
n.3347A>C
c.2940A>C (p.Pro980=)
c.2754A>C (p.Pro918=)
n.3350A>C
c.3088+32A>C (n.3088+32A>C)
c.3045A>C (p.Pro1015=)
c.3111A>C (p.Pro1037=)
c.3013+32A>C (n.3013+32A>C)
c.3063A>C (p.Pro1021=)
c.3016+32A>C (n.3016+32A>C)
c.3031+32A>C (n.3031+32A>C)
c.2928A>C (p.Pro976=)
c.2927A>C (p.Gln976Pro)
16g.28836154A>GCA494869116ATXN2Lc.3117A>G (p.Pro1039=)
c.3085+32A>G (n.3085+32A>G)
c.1092A>G (p.Pro364=)
n.3491A>G
c.280+32A>G (n.280+32A>G)
c.3135A>G (p.Pro1045=)
c.2181A>G (n.2181A>G)
c.354+32A>G
c.1095A>G (p.Pro365=)
c.3138A>G (p.Pro1046=)
c.3120A>G (p.Pro1040=)
c.3106+32A>G (n.3106+32A>G)
c.3103+32A>G (n.3103+32A>G)
c.2958A>G (p.Pro986=)
c.3066A>G (p.Pro1022=)
c.3048A>G (p.Pro1016=)
c.2772A>G (p.Pro924=)
n.3347A>G
c.2940A>G (p.Pro980=)
c.2754A>G (p.Pro918=)
n.3350A>G
c.3088+32A>G (n.3088+32A>G)
c.3045A>G (p.Pro1015=)
c.3111A>G (p.Pro1037=)
c.3013+32A>G (n.3013+32A>G)
c.3063A>G (p.Pro1021=)
c.3016+32A>G (n.3016+32A>G)
c.3031+32A>G (n.3031+32A>G)
c.2928A>G (p.Pro976=)
c.2927A>G (p.Gln976Arg)
 gnomAD v4
16g.28836154A>TCA494869118ATXN2Lc.3117A>T (p.Pro1039=)
c.3085+32A>T (n.3085+32A>T)
c.1092A>T (p.Pro364=)
n.3491A>T
c.280+32A>T (n.280+32A>T)
c.3135A>T (p.Pro1045=)
c.2181A>T (n.2181A>T)
c.354+32A>T
c.1095A>T (p.Pro365=)
c.3138A>T (p.Pro1046=)
c.3120A>T (p.Pro1040=)
c.3106+32A>T (n.3106+32A>T)
c.3103+32A>T (n.3103+32A>T)
c.2958A>T (p.Pro986=)
c.3066A>T (p.Pro1022=)
c.3048A>T (p.Pro1016=)
c.2772A>T (p.Pro924=)
n.3347A>T
c.2940A>T (p.Pro980=)
c.2754A>T (p.Pro918=)
n.3350A>T
c.3088+32A>T (n.3088+32A>T)
c.3045A>T (p.Pro1015=)
c.3111A>T (p.Pro1037=)
c.3013+32A>T (n.3013+32A>T)
c.3063A>T (p.Pro1021=)
c.3016+32A>T (n.3016+32A>T)
c.3031+32A>T (n.3031+32A>T)
c.2928A>T (p.Pro976=)
c.2927A>T (p.Gln976Leu)
16g.28836155G>ACA395410137ATXN2Lc.3118G>A (p.Gly1040Arg)
c.3085+33G>A (n.3085+33G>A)
c.1093G>A (p.Gly365Arg)
n.3492G>A
c.280+33G>A (n.280+33G>A)
c.3136G>A (p.Gly1046Arg)
c.2182G>A (n.2182G>A)
c.354+33G>A
c.1096G>A (p.Gly366Arg)
c.3139G>A (p.Gly1047Arg)
c.3121G>A (p.Gly1041Arg)
c.3106+33G>A (n.3106+33G>A)
c.3103+33G>A (n.3103+33G>A)
c.2959G>A (p.Gly987Arg)
c.3067G>A (p.Gly1023Arg)
c.3049G>A (p.Gly1017Arg)
c.2773G>A (p.Gly925Arg)
n.3348G>A
c.2941G>A (p.Gly981Arg)
c.2755G>A (p.Gly919Arg)
n.3351G>A
c.3088+33G>A (n.3088+33G>A)
c.3046G>A (p.Gly1016Arg)
c.3112G>A (p.Gly1038Arg)
c.3013+33G>A (n.3013+33G>A)
c.3064G>A (p.Gly1022Arg)
c.3016+33G>A (n.3016+33G>A)
c.3031+33G>A (n.3031+33G>A)
c.2929G>A (p.Gly977Arg)
c.2928G>A (p.Gln976=)
16g.28836155G>CCA395410141ATXN2Lc.3118G>C (p.Gly1040Arg)
c.3085+33G>C (n.3085+33G>C)
c.1093G>C (p.Gly365Arg)
n.3492G>C
c.280+33G>C (n.280+33G>C)
c.3136G>C (p.Gly1046Arg)
c.2182G>C (n.2182G>C)
c.354+33G>C
c.1096G>C (p.Gly366Arg)
c.3139G>C (p.Gly1047Arg)
c.3121G>C (p.Gly1041Arg)
c.3106+33G>C (n.3106+33G>C)
c.3103+33G>C (n.3103+33G>C)
c.2959G>C (p.Gly987Arg)
c.3067G>C (p.Gly1023Arg)
c.3049G>C (p.Gly1017Arg)
c.2773G>C (p.Gly925Arg)
n.3348G>C
c.2941G>C (p.Gly981Arg)
c.2755G>C (p.Gly919Arg)
n.3351G>C
c.3088+33G>C (n.3088+33G>C)
c.3046G>C (p.Gly1016Arg)
c.3112G>C (p.Gly1038Arg)
c.3013+33G>C (n.3013+33G>C)
c.3064G>C (p.Gly1022Arg)
c.3016+33G>C (n.3016+33G>C)
c.3031+33G>C (n.3031+33G>C)
c.2929G>C (p.Gly977Arg)
c.2928G>C (p.Gln976His)
16g.28836155G>TCA395410139ATXN2Lc.3118G>T (p.Gly1040Ter)
c.3085+33G>T (n.3085+33G>T)
c.1093G>T (p.Gly365Ter)
n.3492G>T
c.280+33G>T (n.280+33G>T)
c.3136G>T (p.Gly1046Ter)
c.2182G>T (n.2182G>T)
c.354+33G>T
c.1096G>T (p.Gly366Ter)
c.3139G>T (p.Gly1047Ter)
c.3121G>T (p.Gly1041Ter)
c.3106+33G>T (n.3106+33G>T)
c.3103+33G>T (n.3103+33G>T)
c.2959G>T (p.Gly987Ter)
c.3067G>T (p.Gly1023Ter)
c.3049G>T (p.Gly1017Ter)
c.2773G>T (p.Gly925Ter)
n.3348G>T
c.2941G>T (p.Gly981Ter)
c.2755G>T (p.Gly919Ter)
n.3351G>T
c.3088+33G>T (n.3088+33G>T)
c.3046G>T (p.Gly1016Ter)
c.3112G>T (p.Gly1038Ter)
c.3013+33G>T (n.3013+33G>T)
c.3064G>T (p.Gly1022Ter)
c.3016+33G>T (n.3016+33G>T)
c.3031+33G>T (n.3031+33G>T)
c.2929G>T (p.Gly977Ter)
c.2928G>T (p.Gln976His)
16g.28836156G>ACA7985182ATXN2Lc.3119G>A (p.Gly1040Glu)
c.3085+34G>A (n.3085+34G>A)
c.1094G>A (p.Gly365Glu)
n.3493G>A
c.280+34G>A (n.280+34G>A)
c.3137G>A (p.Gly1046Glu)
c.2183G>A (n.2183G>A)
c.354+34G>A
c.1097G>A (p.Gly366Glu)
c.3140G>A (p.Gly1047Glu)
c.3122G>A (p.Gly1041Glu)
c.3106+34G>A (n.3106+34G>A)
c.3103+34G>A (n.3103+34G>A)
c.2960G>A (p.Gly987Glu)
c.3068G>A (p.Gly1023Glu)
c.3050G>A (p.Gly1017Glu)
c.2774G>A (p.Gly925Glu)
n.3349G>A
c.2942G>A (p.Gly981Glu)
c.2756G>A (p.Gly919Glu)
n.3352G>A
c.3088+34G>A (n.3088+34G>A)
c.3047G>A (p.Gly1016Glu)
c.3113G>A (p.Gly1038Glu)
c.3013+34G>A (n.3013+34G>A)
c.3065G>A (p.Gly1022Glu)
c.3016+34G>A (n.3016+34G>A)
c.3031+34G>A (n.3031+34G>A)
c.2930G>A (p.Gly977Glu)
c.2929G>A (p.Glu977Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836156G>CCA395410144ATXN2Lc.3119G>C (p.Gly1040Ala)
c.3085+34G>C (n.3085+34G>C)
c.1094G>C (p.Gly365Ala)
n.3493G>C
c.280+34G>C (n.280+34G>C)
c.3137G>C (p.Gly1046Ala)
c.2183G>C (n.2183G>C)
c.354+34G>C
c.1097G>C (p.Gly366Ala)
c.3140G>C (p.Gly1047Ala)
c.3122G>C (p.Gly1041Ala)
c.3106+34G>C (n.3106+34G>C)
c.3103+34G>C (n.3103+34G>C)
c.2960G>C (p.Gly987Ala)
c.3068G>C (p.Gly1023Ala)
c.3050G>C (p.Gly1017Ala)
c.2774G>C (p.Gly925Ala)
n.3349G>C
c.2942G>C (p.Gly981Ala)
c.2756G>C (p.Gly919Ala)
n.3352G>C
c.3088+34G>C (n.3088+34G>C)
c.3047G>C (p.Gly1016Ala)
c.3113G>C (p.Gly1038Ala)
c.3013+34G>C (n.3013+34G>C)
c.3065G>C (p.Gly1022Ala)
c.3016+34G>C (n.3016+34G>C)
c.3031+34G>C (n.3031+34G>C)
c.2930G>C (p.Gly977Ala)
c.2929G>C (p.Glu977Gln)
16g.28836156G=CA2215807033ATXN2Lc.3119G= (p.Gly1040=)
c.3085+34G= (n.3085+34G=)
c.1094G= (p.Gly365=)
n.3493G=
c.280+34G= (n.280+34G=)
c.3137G= (p.Gly1046=)
c.2183G= (n.2183G=)
c.354+34G=
c.1097G= (p.Gly366=)
c.3140G= (p.Gly1047=)
c.3122G= (p.Gly1041=)
c.3106+34G= (n.3106+34G=)
c.3103+34G= (n.3103+34G=)
c.2960G= (p.Gly987=)
c.3068G= (p.Gly1023=)
c.3050G= (p.Gly1017=)
c.2774G= (p.Gly925=)
n.3349G=
c.2942G= (p.Gly981=)
c.2756G= (p.Gly919=)
n.3352G=
c.3088+34G= (n.3088+34G=)
c.3047G= (p.Gly1016=)
c.3113G= (p.Gly1038=)
c.3013+34G= (n.3013+34G=)
c.3065G= (p.Gly1022=)
c.3016+34G= (n.3016+34G=)
c.3031+34G= (n.3031+34G=)
c.2930G= (p.Gly977=)
c.2929G= (p.Glu977=)
16g.28836156G>TCA395410146ATXN2Lc.3119G>T (p.Gly1040Val)
c.3085+34G>T (n.3085+34G>T)
c.1094G>T (p.Gly365Val)
n.3493G>T
c.280+34G>T (n.280+34G>T)
c.3137G>T (p.Gly1046Val)
c.2183G>T (n.2183G>T)
c.354+34G>T
c.1097G>T (p.Gly366Val)
c.3140G>T (p.Gly1047Val)
c.3122G>T (p.Gly1041Val)
c.3106+34G>T (n.3106+34G>T)
c.3103+34G>T (n.3103+34G>T)
c.2960G>T (p.Gly987Val)
c.3068G>T (p.Gly1023Val)
c.3050G>T (p.Gly1017Val)
c.2774G>T (p.Gly925Val)
n.3349G>T
c.2942G>T (p.Gly981Val)
c.2756G>T (p.Gly919Val)
n.3352G>T
c.3088+34G>T (n.3088+34G>T)
c.3047G>T (p.Gly1016Val)
c.3113G>T (p.Gly1038Val)
c.3013+34G>T (n.3013+34G>T)
c.3065G>T (p.Gly1022Val)
c.3016+34G>T (n.3016+34G>T)
c.3031+34G>T (n.3031+34G>T)
c.2930G>T (p.Gly977Val)
c.2929G>T (p.Glu977Ter)
16g.28836157A=CA2215807038ATXN2Lc.3120A= (p.Gly1040=)
c.3085+35A= (n.3085+35A=)
c.1095A= (p.Gly365=)
n.3494A=
c.280+35A= (n.280+35A=)
c.3138A= (p.Gly1046=)
c.2184A= (n.2184A=)
c.354+35A=
c.1098A= (p.Gly366=)
c.3141A= (p.Gly1047=)
c.3123A= (p.Gly1041=)
c.3106+35A= (n.3106+35A=)
c.3103+35A= (n.3103+35A=)
c.2961A= (p.Gly987=)
c.3069A= (p.Gly1023=)
c.3051A= (p.Gly1017=)
c.2775A= (p.Gly925=)
n.3350A=
c.2943A= (p.Gly981=)
c.2757A= (p.Gly919=)
n.3353A=
c.3088+35A= (n.3088+35A=)
c.3048A= (p.Gly1016=)
c.3114A= (p.Gly1038=)
c.3013+35A= (n.3013+35A=)
c.3066A= (p.Gly1022=)
c.3016+35A= (n.3016+35A=)
c.3031+35A= (n.3031+35A=)
c.2931A= (p.Gly977=)
c.2930A= (p.Glu977=)
16g.28836157A>CCA494869161ATXN2Lc.3120A>C (p.Gly1040=)
c.3085+35A>C (n.3085+35A>C)
c.1095A>C (p.Gly365=)
n.3494A>C
c.280+35A>C (n.280+35A>C)
c.3138A>C (p.Gly1046=)
c.2184A>C (n.2184A>C)
c.354+35A>C
c.1098A>C (p.Gly366=)
c.3141A>C (p.Gly1047=)
c.3123A>C (p.Gly1041=)
c.3106+35A>C (n.3106+35A>C)
c.3103+35A>C (n.3103+35A>C)
c.2961A>C (p.Gly987=)
c.3069A>C (p.Gly1023=)
c.3051A>C (p.Gly1017=)
c.2775A>C (p.Gly925=)
n.3350A>C
c.2943A>C (p.Gly981=)
c.2757A>C (p.Gly919=)
n.3353A>C
c.3088+35A>C (n.3088+35A>C)
c.3048A>C (p.Gly1016=)
c.3114A>C (p.Gly1038=)
c.3013+35A>C (n.3013+35A>C)
c.3066A>C (p.Gly1022=)
c.3016+35A>C (n.3016+35A>C)
c.3031+35A>C (n.3031+35A>C)
c.2931A>C (p.Gly977=)
c.2930A>C (p.Glu977Ala)
 gnomAD v4
16g.28836157A>GCA7985183ATXN2Lc.3120A>G (p.Gly1040=)
c.3085+35A>G (n.3085+35A>G)
c.1095A>G (p.Gly365=)
n.3494A>G
c.280+35A>G (n.280+35A>G)
c.3138A>G (p.Gly1046=)
c.2184A>G (n.2184A>G)
c.354+35A>G
c.1098A>G (p.Gly366=)
c.3141A>G (p.Gly1047=)
c.3123A>G (p.Gly1041=)
c.3106+35A>G (n.3106+35A>G)
c.3103+35A>G (n.3103+35A>G)
c.2961A>G (p.Gly987=)
c.3069A>G (p.Gly1023=)
c.3051A>G (p.Gly1017=)
c.2775A>G (p.Gly925=)
n.3350A>G
c.2943A>G (p.Gly981=)
c.2757A>G (p.Gly919=)
n.3353A>G
c.3088+35A>G (n.3088+35A>G)
c.3048A>G (p.Gly1016=)
c.3114A>G (p.Gly1038=)
c.3013+35A>G (n.3013+35A>G)
c.3066A>G (p.Gly1022=)
c.3016+35A>G (n.3016+35A>G)
c.3031+35A>G (n.3031+35A>G)
c.2931A>G (p.Gly977=)
c.2930A>G (p.Glu977Gly)
 dbSNP ExAC gnomAD v2
16g.28836157A>TCA494869154ATXN2Lc.3120A>T (p.Gly1040=)
c.3085+35A>T (n.3085+35A>T)
c.1095A>T (p.Gly365=)
n.3494A>T
c.280+35A>T (n.280+35A>T)
c.3138A>T (p.Gly1046=)
c.2184A>T (n.2184A>T)
c.354+35A>T
c.1098A>T (p.Gly366=)
c.3141A>T (p.Gly1047=)
c.3123A>T (p.Gly1041=)
c.3106+35A>T (n.3106+35A>T)
c.3103+35A>T (n.3103+35A>T)
c.2961A>T (p.Gly987=)
c.3069A>T (p.Gly1023=)
c.3051A>T (p.Gly1017=)
c.2775A>T (p.Gly925=)
n.3350A>T
c.2943A>T (p.Gly981=)
c.2757A>T (p.Gly919=)
n.3353A>T
c.3088+35A>T (n.3088+35A>T)
c.3048A>T (p.Gly1016=)
c.3114A>T (p.Gly1038=)
c.3013+35A>T (n.3013+35A>T)
c.3066A>T (p.Gly1022=)
c.3016+35A>T (n.3016+35A>T)
c.3031+35A>T (n.3031+35A>T)
c.2931A>T (p.Gly977=)
c.2930A>T (p.Glu977Val)
16g.28836158G>ACA395410149ATXN2Lc.3121G>A (p.Gly1041Arg)
c.3085+36G>A (n.3085+36G>A)
c.1096G>A (p.Gly366Arg)
n.3495G>A
c.280+36G>A (n.280+36G>A)
c.3139G>A (p.Gly1047Arg)
c.2185G>A (n.2185G>A)
c.354+36G>A
c.1099G>A (p.Gly367Arg)
c.3142G>A (p.Gly1048Arg)
c.3124G>A (p.Gly1042Arg)
c.3106+36G>A (n.3106+36G>A)
c.3103+36G>A (n.3103+36G>A)
c.2962G>A (p.Gly988Arg)
c.3070G>A (p.Gly1024Arg)
c.3052G>A (p.Gly1018Arg)
c.2776G>A (p.Gly926Arg)
n.3351G>A
c.2944G>A (p.Gly982Arg)
c.2758G>A (p.Gly920Arg)
n.3354G>A
c.3088+36G>A (n.3088+36G>A)
c.3049G>A (p.Gly1017Arg)
c.3115G>A (p.Gly1039Arg)
c.3013+36G>A (n.3013+36G>A)
c.3067G>A (p.Gly1023Arg)
c.3016+36G>A (n.3016+36G>A)
c.3031+36G>A (n.3031+36G>A)
c.2932G>A (p.Gly978Arg)
c.2931G>A (p.Glu977=)
16g.28836158G>CCA395410151ATXN2Lc.3121G>C (p.Gly1041Arg)
c.3085+36G>C (n.3085+36G>C)
c.1096G>C (p.Gly366Arg)
n.3495G>C
c.280+36G>C (n.280+36G>C)
c.3139G>C (p.Gly1047Arg)
c.2185G>C (n.2185G>C)
c.354+36G>C
c.1099G>C (p.Gly367Arg)
c.3142G>C (p.Gly1048Arg)
c.3124G>C (p.Gly1042Arg)
c.3106+36G>C (n.3106+36G>C)
c.3103+36G>C (n.3103+36G>C)
c.2962G>C (p.Gly988Arg)
c.3070G>C (p.Gly1024Arg)
c.3052G>C (p.Gly1018Arg)
c.2776G>C (p.Gly926Arg)
n.3351G>C
c.2944G>C (p.Gly982Arg)
c.2758G>C (p.Gly920Arg)
n.3354G>C
c.3088+36G>C (n.3088+36G>C)
c.3049G>C (p.Gly1017Arg)
c.3115G>C (p.Gly1039Arg)
c.3013+36G>C (n.3013+36G>C)
c.3067G>C (p.Gly1023Arg)
c.3016+36G>C (n.3016+36G>C)
c.3031+36G>C (n.3031+36G>C)
c.2932G>C (p.Gly978Arg)
c.2931G>C (p.Glu977Asp)
16g.28836158G>TCA395410150ATXN2Lc.3121G>T (p.Gly1041Ter)
c.3085+36G>T (n.3085+36G>T)
c.1096G>T (p.Gly366Ter)
n.3495G>T
c.280+36G>T (n.280+36G>T)
c.3139G>T (p.Gly1047Ter)
c.2185G>T (n.2185G>T)
c.354+36G>T
c.1099G>T (p.Gly367Ter)
c.3142G>T (p.Gly1048Ter)
c.3124G>T (p.Gly1042Ter)
c.3106+36G>T (n.3106+36G>T)
c.3103+36G>T (n.3103+36G>T)
c.2962G>T (p.Gly988Ter)
c.3070G>T (p.Gly1024Ter)
c.3052G>T (p.Gly1018Ter)
c.2776G>T (p.Gly926Ter)
n.3351G>T
c.2944G>T (p.Gly982Ter)
c.2758G>T (p.Gly920Ter)
n.3354G>T
c.3088+36G>T (n.3088+36G>T)
c.3049G>T (p.Gly1017Ter)
c.3115G>T (p.Gly1039Ter)
c.3013+36G>T (n.3013+36G>T)
c.3067G>T (p.Gly1023Ter)
c.3016+36G>T (n.3016+36G>T)
c.3031+36G>T (n.3031+36G>T)
c.2932G>T (p.Gly978Ter)
c.2931G>T (p.Glu977Asp)
16g.28836159G>ACA395410154ATXN2Lc.3122G>A (p.Gly1041Glu)
c.3085+37G>A (n.3085+37G>A)
c.1097G>A (p.Gly366Glu)
n.3496G>A
c.280+37G>A (n.280+37G>A)
c.3140G>A (p.Gly1047Glu)
c.2186G>A (n.2186G>A)
c.354+37G>A
c.1100G>A (p.Gly367Glu)
c.3143G>A (p.Gly1048Glu)
c.3125G>A (p.Gly1042Glu)
c.3106+37G>A (n.3106+37G>A)
c.3103+37G>A (n.3103+37G>A)
c.2963G>A (p.Gly988Glu)
c.3071G>A (p.Gly1024Glu)
c.3053G>A (p.Gly1018Glu)
c.2777G>A (p.Gly926Glu)
n.3352G>A
c.2945G>A (p.Gly982Glu)
c.2759G>A (p.Gly920Glu)
n.3355G>A
c.3088+37G>A (n.3088+37G>A)
c.3050G>A (p.Gly1017Glu)
c.3116G>A (p.Gly1039Glu)
c.3013+37G>A (n.3013+37G>A)
c.3068G>A (p.Gly1023Glu)
c.3016+37G>A (n.3016+37G>A)
c.3031+37G>A (n.3031+37G>A)
c.2933G>A (p.Gly978Glu)
c.2932G>A (p.Glu978Lys)
16g.28836159G>CCA395410158ATXN2Lc.3122G>C (p.Gly1041Ala)
c.3085+37G>C (n.3085+37G>C)
c.1097G>C (p.Gly366Ala)
n.3496G>C
c.280+37G>C (n.280+37G>C)
c.3140G>C (p.Gly1047Ala)
c.2186G>C (n.2186G>C)
c.354+37G>C
c.1100G>C (p.Gly367Ala)
c.3143G>C (p.Gly1048Ala)
c.3125G>C (p.Gly1042Ala)
c.3106+37G>C (n.3106+37G>C)
c.3103+37G>C (n.3103+37G>C)
c.2963G>C (p.Gly988Ala)
c.3071G>C (p.Gly1024Ala)
c.3053G>C (p.Gly1018Ala)
c.2777G>C (p.Gly926Ala)
n.3352G>C
c.2945G>C (p.Gly982Ala)
c.2759G>C (p.Gly920Ala)
n.3355G>C
c.3088+37G>C (n.3088+37G>C)
c.3050G>C (p.Gly1017Ala)
c.3116G>C (p.Gly1039Ala)
c.3013+37G>C (n.3013+37G>C)
c.3068G>C (p.Gly1023Ala)
c.3016+37G>C (n.3016+37G>C)
c.3031+37G>C (n.3031+37G>C)
c.2933G>C (p.Gly978Ala)
c.2932G>C (p.Glu978Gln)
16g.28836159G>TCA395410156ATXN2Lc.3122G>T (p.Gly1041Val)
c.3085+37G>T (n.3085+37G>T)
c.1097G>T (p.Gly366Val)
n.3496G>T
c.280+37G>T (n.280+37G>T)
c.3140G>T (p.Gly1047Val)
c.2186G>T (n.2186G>T)
c.354+37G>T
c.1100G>T (p.Gly367Val)
c.3143G>T (p.Gly1048Val)
c.3125G>T (p.Gly1042Val)
c.3106+37G>T (n.3106+37G>T)
c.3103+37G>T (n.3103+37G>T)
c.2963G>T (p.Gly988Val)
c.3071G>T (p.Gly1024Val)
c.3053G>T (p.Gly1018Val)
c.2777G>T (p.Gly926Val)
n.3352G>T
c.2945G>T (p.Gly982Val)
c.2759G>T (p.Gly920Val)
n.3355G>T
c.3088+37G>T (n.3088+37G>T)
c.3050G>T (p.Gly1017Val)
c.3116G>T (p.Gly1039Val)
c.3013+37G>T (n.3013+37G>T)
c.3068G>T (p.Gly1023Val)
c.3016+37G>T (n.3016+37G>T)
c.3031+37G>T (n.3031+37G>T)
c.2933G>T (p.Gly978Val)
c.2932G>T (p.Glu978Ter)
16g.28836160A>CCA494869173ATXN2Lc.3123A>C (p.Gly1041=)
c.3085+38A>C (n.3085+38A>C)
c.1098A>C (p.Gly366=)
n.3497A>C
c.280+38A>C (n.280+38A>C)
c.3141A>C (p.Gly1047=)
c.2187A>C (n.2187A>C)
c.354+38A>C
c.1101A>C (p.Gly367=)
c.3144A>C (p.Gly1048=)
c.3126A>C (p.Gly1042=)
c.3106+38A>C (n.3106+38A>C)
c.3103+38A>C (n.3103+38A>C)
c.2964A>C (p.Gly988=)
c.3072A>C (p.Gly1024=)
c.3054A>C (p.Gly1018=)
c.2778A>C (p.Gly926=)
n.3353A>C
c.2946A>C (p.Gly982=)
c.2760A>C (p.Gly920=)
n.3356A>C
c.3088+38A>C (n.3088+38A>C)
c.3051A>C (p.Gly1017=)
c.3117A>C (p.Gly1039=)
c.3013+38A>C (n.3013+38A>C)
c.3069A>C (p.Gly1023=)
c.3016+38A>C (n.3016+38A>C)
c.3031+38A>C (n.3031+38A>C)
c.2934A>C (p.Gly978=)
c.2933A>C (p.Glu978Ala)
16g.28836160A>GCA494869174ATXN2Lc.3123A>G (p.Gly1041=)
c.3085+38A>G (n.3085+38A>G)
c.1098A>G (p.Gly366=)
n.3497A>G
c.280+38A>G (n.280+38A>G)
c.3141A>G (p.Gly1047=)
c.2187A>G (n.2187A>G)
c.354+38A>G
c.1101A>G (p.Gly367=)
c.3144A>G (p.Gly1048=)
c.3126A>G (p.Gly1042=)
c.3106+38A>G (n.3106+38A>G)
c.3103+38A>G (n.3103+38A>G)
c.2964A>G (p.Gly988=)
c.3072A>G (p.Gly1024=)
c.3054A>G (p.Gly1018=)
c.2778A>G (p.Gly926=)
n.3353A>G
c.2946A>G (p.Gly982=)
c.2760A>G (p.Gly920=)
n.3356A>G
c.3088+38A>G (n.3088+38A>G)
c.3051A>G (p.Gly1017=)
c.3117A>G (p.Gly1039=)
c.3013+38A>G (n.3013+38A>G)
c.3069A>G (p.Gly1023=)
c.3016+38A>G (n.3016+38A>G)
c.3031+38A>G (n.3031+38A>G)
c.2934A>G (p.Gly978=)
c.2933A>G (p.Glu978Gly)
16g.28836160A>TCA494869175ATXN2Lc.3123A>T (p.Gly1041=)
c.3085+38A>T (n.3085+38A>T)
c.1098A>T (p.Gly366=)
n.3497A>T
c.280+38A>T (n.280+38A>T)
c.3141A>T (p.Gly1047=)
c.2187A>T (n.2187A>T)
c.354+38A>T
c.1101A>T (p.Gly367=)
c.3144A>T (p.Gly1048=)
c.3126A>T (p.Gly1042=)
c.3106+38A>T (n.3106+38A>T)
c.3103+38A>T (n.3103+38A>T)
c.2964A>T (p.Gly988=)
c.3072A>T (p.Gly1024=)
c.3054A>T (p.Gly1018=)
c.2778A>T (p.Gly926=)
n.3353A>T
c.2946A>T (p.Gly982=)
c.2760A>T (p.Gly920=)
n.3356A>T
c.3088+38A>T (n.3088+38A>T)
c.3051A>T (p.Gly1017=)
c.3117A>T (p.Gly1039=)
c.3013+38A>T (n.3013+38A>T)
c.3069A>T (p.Gly1023=)
c.3016+38A>T (n.3016+38A>T)
c.3031+38A>T (n.3031+38A>T)
c.2934A>T (p.Gly978=)
c.2933A>T (p.Glu978Val)
16g.28836161G>ACA395410160ATXN2Lc.3124G>A (p.Ala1042Thr)
c.3085+39G>A (n.3085+39G>A)
c.1099G>A (p.Ala367Thr)
n.3498G>A
c.280+39G>A (n.280+39G>A)
c.3142G>A (p.Ala1048Thr)
c.2188G>A (n.2188G>A)
c.354+39G>A
c.1102G>A (p.Ala368Thr)
c.3145G>A (p.Ala1049Thr)
c.3127G>A (p.Ala1043Thr)
c.3106+39G>A (n.3106+39G>A)
c.3103+39G>A (n.3103+39G>A)
c.2965G>A (p.Ala989Thr)
c.3073G>A (p.Ala1025Thr)
c.3055G>A (p.Ala1019Thr)
c.2779G>A (p.Ala927Thr)
n.3354G>A
c.2947G>A (p.Ala983Thr)
c.2761G>A (p.Ala921Thr)
n.3357G>A
c.3088+39G>A (n.3088+39G>A)
c.3052G>A (p.Ala1018Thr)
c.3118G>A (p.Ala1040Thr)
c.3013+39G>A (n.3013+39G>A)
c.3070G>A (p.Ala1024Thr)
c.3016+39G>A (n.3016+39G>A)
c.3031+39G>A (n.3031+39G>A)
c.2935G>A (p.Ala979Thr)
c.2934G>A (p.Glu978=)
 gnomAD v4
16g.28836161G>CCA395410161ATXN2Lc.3124G>C (p.Ala1042Pro)
c.3085+39G>C (n.3085+39G>C)
c.1099G>C (p.Ala367Pro)
n.3498G>C
c.280+39G>C (n.280+39G>C)
c.3142G>C (p.Ala1048Pro)
c.2188G>C (n.2188G>C)
c.354+39G>C
c.1102G>C (p.Ala368Pro)
c.3145G>C (p.Ala1049Pro)
c.3127G>C (p.Ala1043Pro)
c.3106+39G>C (n.3106+39G>C)
c.3103+39G>C (n.3103+39G>C)
c.2965G>C (p.Ala989Pro)
c.3073G>C (p.Ala1025Pro)
c.3055G>C (p.Ala1019Pro)
c.2779G>C (p.Ala927Pro)
n.3354G>C
c.2947G>C (p.Ala983Pro)
c.2761G>C (p.Ala921Pro)
n.3357G>C
c.3088+39G>C (n.3088+39G>C)
c.3052G>C (p.Ala1018Pro)
c.3118G>C (p.Ala1040Pro)
c.3013+39G>C (n.3013+39G>C)
c.3070G>C (p.Ala1024Pro)
c.3016+39G>C (n.3016+39G>C)
c.3031+39G>C (n.3031+39G>C)
c.2935G>C (p.Ala979Pro)
c.2934G>C (p.Glu978Asp)
16g.28836161G=CA2215807042ATXN2Lc.3124G= (p.Ala1042=)
c.3085+39G= (n.3085+39G=)
c.1099G= (p.Ala367=)
n.3498G=
c.280+39G= (n.280+39G=)
c.3142G= (p.Ala1048=)
c.2188G= (n.2188G=)
c.354+39G=
c.1102G= (p.Ala368=)
c.3145G= (p.Ala1049=)
c.3127G= (p.Ala1043=)
c.3106+39G= (n.3106+39G=)
c.3103+39G= (n.3103+39G=)
c.2965G= (p.Ala989=)
c.3073G= (p.Ala1025=)
c.3055G= (p.Ala1019=)
c.2779G= (p.Ala927=)
n.3354G=
c.2947G= (p.Ala983=)
c.2761G= (p.Ala921=)
n.3357G=
c.3088+39G= (n.3088+39G=)
c.3052G= (p.Ala1018=)
c.3118G= (p.Ala1040=)
c.3013+39G= (n.3013+39G=)
c.3070G= (p.Ala1024=)
c.3016+39G= (n.3016+39G=)
c.3031+39G= (n.3031+39G=)
c.2935G= (p.Ala979=)
c.2934G= (p.Glu978=)
16g.28836161G>TCA7985184ATXN2Lc.3124G>T (p.Ala1042Ser)
c.3085+39G>T (n.3085+39G>T)
c.1099G>T (p.Ala367Ser)
n.3498G>T
c.280+39G>T (n.280+39G>T)
c.3142G>T (p.Ala1048Ser)
c.2188G>T (n.2188G>T)
c.354+39G>T
c.1102G>T (p.Ala368Ser)
c.3145G>T (p.Ala1049Ser)
c.3127G>T (p.Ala1043Ser)
c.3106+39G>T (n.3106+39G>T)
c.3103+39G>T (n.3103+39G>T)
c.2965G>T (p.Ala989Ser)
c.3073G>T (p.Ala1025Ser)
c.3055G>T (p.Ala1019Ser)
c.2779G>T (p.Ala927Ser)
n.3354G>T
c.2947G>T (p.Ala983Ser)
c.2761G>T (p.Ala921Ser)
n.3357G>T
c.3088+39G>T (n.3088+39G>T)
c.3052G>T (p.Ala1018Ser)
c.3118G>T (p.Ala1040Ser)
c.3013+39G>T (n.3013+39G>T)
c.3070G>T (p.Ala1024Ser)
c.3016+39G>T (n.3016+39G>T)
c.3031+39G>T (n.3031+39G>T)
c.2935G>T (p.Ala979Ser)
c.2934G>T (p.Glu978Asp)
 dbSNP ExAC gnomAD v2
16g.28836162C>ACA395410165ATXN2Lc.3125C>A (p.Ala1042Asp)
c.3085+40C>A (n.3085+40C>A)
c.1100C>A (p.Ala367Asp)
n.3499C>A
c.280+40C>A (n.280+40C>A)
c.3143C>A (p.Ala1048Asp)
c.2189C>A (n.2189C>A)
c.354+40C>A
c.1103C>A (p.Ala368Asp)
c.3146C>A (p.Ala1049Asp)
c.3128C>A (p.Ala1043Asp)
c.3106+40C>A (n.3106+40C>A)
c.3103+40C>A (n.3103+40C>A)
c.2966C>A (p.Ala989Asp)
c.3074C>A (p.Ala1025Asp)
c.3056C>A (p.Ala1019Asp)
c.2780C>A (p.Ala927Asp)
n.3355C>A
c.2948C>A (p.Ala983Asp)
c.2762C>A (p.Ala921Asp)
n.3358C>A
c.3088+40C>A (n.3088+40C>A)
c.3053C>A (p.Ala1018Asp)
c.3119C>A (p.Ala1040Asp)
c.3013+40C>A (n.3013+40C>A)
c.3071C>A (p.Ala1024Asp)
c.3016+40C>A (n.3016+40C>A)
c.3031+40C>A (n.3031+40C>A)
c.2936C>A (p.Ala979Asp)
c.2935C>A (p.Pro979Thr)
16g.28836162C=CA2215807047ATXN2Lc.3125C= (p.Ala1042=)
c.3085+40C= (n.3085+40C=)
c.1100C= (p.Ala367=)
n.3499C=
c.280+40C= (n.280+40C=)
c.3143C= (p.Ala1048=)
c.2189C= (n.2189C=)
c.354+40C=
c.1103C= (p.Ala368=)
c.3146C= (p.Ala1049=)
c.3128C= (p.Ala1043=)
c.3106+40C= (n.3106+40C=)
c.3103+40C= (n.3103+40C=)
c.2966C= (p.Ala989=)
c.3074C= (p.Ala1025=)
c.3056C= (p.Ala1019=)
c.2780C= (p.Ala927=)
n.3355C=
c.2948C= (p.Ala983=)
c.2762C= (p.Ala921=)
n.3358C=
c.3088+40C= (n.3088+40C=)
c.3053C= (p.Ala1018=)
c.3119C= (p.Ala1040=)
c.3013+40C= (n.3013+40C=)
c.3071C= (p.Ala1024=)
c.3016+40C= (n.3016+40C=)
c.3031+40C= (n.3031+40C=)
c.2936C= (p.Ala979=)
c.2935C= (p.Pro979=)
16g.28836162C>GCA395410166ATXN2Lc.3125C>G (p.Ala1042Gly)
c.3085+40C>G (n.3085+40C>G)
c.1100C>G (p.Ala367Gly)
n.3499C>G
c.280+40C>G (n.280+40C>G)
c.3143C>G (p.Ala1048Gly)
c.2189C>G (n.2189C>G)
c.354+40C>G
c.1103C>G (p.Ala368Gly)
c.3146C>G (p.Ala1049Gly)
c.3128C>G (p.Ala1043Gly)
c.3106+40C>G (n.3106+40C>G)
c.3103+40C>G (n.3103+40C>G)
c.2966C>G (p.Ala989Gly)
c.3074C>G (p.Ala1025Gly)
c.3056C>G (p.Ala1019Gly)
c.2780C>G (p.Ala927Gly)
n.3355C>G
c.2948C>G (p.Ala983Gly)
c.2762C>G (p.Ala921Gly)
n.3358C>G
c.3088+40C>G (n.3088+40C>G)
c.3053C>G (p.Ala1018Gly)
c.3119C>G (p.Ala1040Gly)
c.3013+40C>G (n.3013+40C>G)
c.3071C>G (p.Ala1024Gly)
c.3016+40C>G (n.3016+40C>G)
c.3031+40C>G (n.3031+40C>G)
c.2936C>G (p.Ala979Gly)
c.2935C>G (p.Pro979Ala)
 dbSNP
16g.28836162C>TCA395410168ATXN2Lc.3125C>T (p.Ala1042Val)
c.3085+40C>T (n.3085+40C>T)
c.1100C>T (p.Ala367Val)
n.3499C>T
c.280+40C>T (n.280+40C>T)
c.3143C>T (p.Ala1048Val)
c.2189C>T (n.2189C>T)
c.354+40C>T
c.1103C>T (p.Ala368Val)
c.3146C>T (p.Ala1049Val)
c.3128C>T (p.Ala1043Val)
c.3106+40C>T (n.3106+40C>T)
c.3103+40C>T (n.3103+40C>T)
c.2966C>T (p.Ala989Val)
c.3074C>T (p.Ala1025Val)
c.3056C>T (p.Ala1019Val)
c.2780C>T (p.Ala927Val)
n.3355C>T
c.2948C>T (p.Ala983Val)
c.2762C>T (p.Ala921Val)
n.3358C>T
c.3088+40C>T (n.3088+40C>T)
c.3053C>T (p.Ala1018Val)
c.3119C>T (p.Ala1040Val)
c.3013+40C>T (n.3013+40C>T)
c.3071C>T (p.Ala1024Val)
c.3016+40C>T (n.3016+40C>T)
c.3031+40C>T (n.3031+40C>T)
c.2936C>T (p.Ala979Val)
c.2935C>T (p.Pro979Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836163C>ACA494869185ATXN2Lc.3126C>A (p.Ala1042=)
c.3085+41C>A (n.3085+41C>A)
c.1101C>A (p.Ala367=)
n.3500C>A
c.280+41C>A (n.280+41C>A)
c.3144C>A (p.Ala1048=)
c.2190C>A (n.2190C>A)
c.354+41C>A
c.1104C>A (p.Ala368=)
c.3147C>A (p.Ala1049=)
c.3129C>A (p.Ala1043=)
c.3106+41C>A (n.3106+41C>A)
c.3103+41C>A (n.3103+41C>A)
c.2967C>A (p.Ala989=)
c.3075C>A (p.Ala1025=)
c.3057C>A (p.Ala1019=)
c.2781C>A (p.Ala927=)
n.3356C>A
c.2949C>A (p.Ala983=)
c.2763C>A (p.Ala921=)
n.3359C>A
c.3088+41C>A (n.3088+41C>A)
c.3054C>A (p.Ala1018=)
c.3120C>A (p.Ala1040=)
c.3013+41C>A (n.3013+41C>A)
c.3072C>A (p.Ala1024=)
c.3016+41C>A (n.3016+41C>A)
c.3031+41C>A (n.3031+41C>A)
c.2937C>A (p.Ala979=)
c.2936C>A (p.Pro979Gln)
16g.28836163C=CA2215807051ATXN2Lc.3126C= (p.Ala1042=)
c.3085+41C= (n.3085+41C=)
c.1101C= (p.Ala367=)
n.3500C=
c.280+41C= (n.280+41C=)
c.3144C= (p.Ala1048=)
c.2190C= (n.2190C=)
c.354+41C=
c.1104C= (p.Ala368=)
c.3147C= (p.Ala1049=)
c.3129C= (p.Ala1043=)
c.3106+41C= (n.3106+41C=)
c.3103+41C= (n.3103+41C=)
c.2967C= (p.Ala989=)
c.3075C= (p.Ala1025=)
c.3057C= (p.Ala1019=)
c.2781C= (p.Ala927=)
n.3356C=
c.2949C= (p.Ala983=)
c.2763C= (p.Ala921=)
n.3359C=
c.3088+41C= (n.3088+41C=)
c.3054C= (p.Ala1018=)
c.3120C= (p.Ala1040=)
c.3013+41C= (n.3013+41C=)
c.3072C= (p.Ala1024=)
c.3016+41C= (n.3016+41C=)
c.3031+41C= (n.3031+41C=)
c.2937C= (p.Ala979=)
c.2936C= (p.Pro979=)
16g.28836163C>GCA494869189ATXN2Lc.3126C>G (p.Ala1042=)
c.3085+41C>G (n.3085+41C>G)
c.1101C>G (p.Ala367=)
n.3500C>G
c.280+41C>G (n.280+41C>G)
c.3144C>G (p.Ala1048=)
c.2190C>G (n.2190C>G)
c.354+41C>G
c.1104C>G (p.Ala368=)
c.3147C>G (p.Ala1049=)
c.3129C>G (p.Ala1043=)
c.3106+41C>G (n.3106+41C>G)
c.3103+41C>G (n.3103+41C>G)
c.2967C>G (p.Ala989=)
c.3075C>G (p.Ala1025=)
c.3057C>G (p.Ala1019=)
c.2781C>G (p.Ala927=)
n.3356C>G
c.2949C>G (p.Ala983=)
c.2763C>G (p.Ala921=)
n.3359C>G
c.3088+41C>G (n.3088+41C>G)
c.3054C>G (p.Ala1018=)
c.3120C>G (p.Ala1040=)
c.3013+41C>G (n.3013+41C>G)
c.3072C>G (p.Ala1024=)
c.3016+41C>G (n.3016+41C>G)
c.3031+41C>G (n.3031+41C>G)
c.2937C>G (p.Ala979=)
c.2936C>G (p.Pro979Arg)
16g.28836163C>TCA494869197ATXN2Lc.3126C>T (p.Ala1042=)
c.3085+41C>T (n.3085+41C>T)
c.1101C>T (p.Ala367=)
n.3500C>T
c.280+41C>T (n.280+41C>T)
c.3144C>T (p.Ala1048=)
c.2190C>T (n.2190C>T)
c.354+41C>T
c.1104C>T (p.Ala368=)
c.3147C>T (p.Ala1049=)
c.3129C>T (p.Ala1043=)
c.3106+41C>T (n.3106+41C>T)
c.3103+41C>T (n.3103+41C>T)
c.2967C>T (p.Ala989=)
c.3075C>T (p.Ala1025=)
c.3057C>T (p.Ala1019=)
c.2781C>T (p.Ala927=)
n.3356C>T
c.2949C>T (p.Ala983=)
c.2763C>T (p.Ala921=)
n.3359C>T
c.3088+41C>T (n.3088+41C>T)
c.3054C>T (p.Ala1018=)
c.3120C>T (p.Ala1040=)
c.3013+41C>T (n.3013+41C>T)
c.3072C>T (p.Ala1024=)
c.3016+41C>T (n.3016+41C>T)
c.3031+41C>T (n.3031+41C>T)
c.2937C>T (p.Ala979=)
c.2936C>T (p.Pro979Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
16g.28836164G>ACA7985185ATXN2Lc.3127G>A (p.Asp1043Asn)
c.3085+42G>A (n.3085+42G>A)
c.1102G>A (p.Asp368Asn)
n.3501G>A
c.280+42G>A (n.280+42G>A)
c.3145G>A (p.Asp1049Asn)
c.2191G>A (n.2191G>A)
c.354+42G>A
c.1105G>A (p.Asp369Asn)
c.3148G>A (p.Asp1050Asn)
c.3130G>A (p.Asp1044Asn)
c.3106+42G>A (n.3106+42G>A)
c.3103+42G>A (n.3103+42G>A)
c.2968G>A (p.Asp990Asn)
c.3076G>A (p.Asp1026Asn)
c.3058G>A (p.Asp1020Asn)
c.2782G>A (p.Asp928Asn)
n.3357G>A
c.2950G>A (p.Asp984Asn)
c.2764G>A (p.Asp922Asn)
n.3360G>A
c.3088+42G>A (n.3088+42G>A)
c.3055G>A (p.Asp1019Asn)
c.3121G>A (p.Asp1041Asn)
c.3013+42G>A (n.3013+42G>A)
c.3073G>A (p.Asp1025Asn)
c.3016+42G>A (n.3016+42G>A)
c.3031+42G>A (n.3031+42G>A)
c.2938G>A (p.Asp980Asn)
c.2937G>A (p.Pro979=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836164G>CCA395410172ATXN2Lc.3127G>C (p.Asp1043His)
c.3085+42G>C (n.3085+42G>C)
c.1102G>C (p.Asp368His)
n.3501G>C
c.280+42G>C (n.280+42G>C)
c.3145G>C (p.Asp1049His)
c.2191G>C (n.2191G>C)
c.354+42G>C
c.1105G>C (p.Asp369His)
c.3148G>C (p.Asp1050His)
c.3130G>C (p.Asp1044His)
c.3106+42G>C (n.3106+42G>C)
c.3103+42G>C (n.3103+42G>C)
c.2968G>C (p.Asp990His)
c.3076G>C (p.Asp1026His)
c.3058G>C (p.Asp1020His)
c.2782G>C (p.Asp928His)
n.3357G>C
c.2950G>C (p.Asp984His)
c.2764G>C (p.Asp922His)
n.3360G>C
c.3088+42G>C (n.3088+42G>C)
c.3055G>C (p.Asp1019His)
c.3121G>C (p.Asp1041His)
c.3013+42G>C (n.3013+42G>C)
c.3073G>C (p.Asp1025His)
c.3016+42G>C (n.3016+42G>C)
c.3031+42G>C (n.3031+42G>C)
c.2938G>C (p.Asp980His)
c.2937G>C (p.Pro979=)
16g.28836164G=CA2215807053ATXN2Lc.3127G= (p.Asp1043=)
c.3085+42G= (n.3085+42G=)
c.1102G= (p.Asp368=)
n.3501G=
c.280+42G= (n.280+42G=)
c.3145G= (p.Asp1049=)
c.2191G= (n.2191G=)
c.354+42G=
c.1105G= (p.Asp369=)
c.3148G= (p.Asp1050=)
c.3130G= (p.Asp1044=)
c.3106+42G= (n.3106+42G=)
c.3103+42G= (n.3103+42G=)
c.2968G= (p.Asp990=)
c.3076G= (p.Asp1026=)
c.3058G= (p.Asp1020=)
c.2782G= (p.Asp928=)
n.3357G=
c.2950G= (p.Asp984=)
c.2764G= (p.Asp922=)
n.3360G=
c.3088+42G= (n.3088+42G=)
c.3055G= (p.Asp1019=)
c.3121G= (p.Asp1041=)
c.3013+42G= (n.3013+42G=)
c.3073G= (p.Asp1025=)
c.3016+42G= (n.3016+42G=)
c.3031+42G= (n.3031+42G=)
c.2938G= (p.Asp980=)
c.2937G= (p.Pro979=)
16g.28836164G>TCA395410174ATXN2Lc.3127G>T (p.Asp1043Tyr)
c.3085+42G>T (n.3085+42G>T)
c.1102G>T (p.Asp368Tyr)
n.3501G>T
c.280+42G>T (n.280+42G>T)
c.3145G>T (p.Asp1049Tyr)
c.2191G>T (n.2191G>T)
c.354+42G>T
c.1105G>T (p.Asp369Tyr)
c.3148G>T (p.Asp1050Tyr)
c.3130G>T (p.Asp1044Tyr)
c.3106+42G>T (n.3106+42G>T)
c.3103+42G>T (n.3103+42G>T)
c.2968G>T (p.Asp990Tyr)
c.3076G>T (p.Asp1026Tyr)
c.3058G>T (p.Asp1020Tyr)
c.2782G>T (p.Asp928Tyr)
n.3357G>T
c.2950G>T (p.Asp984Tyr)
c.2764G>T (p.Asp922Tyr)
n.3360G>T
c.3088+42G>T (n.3088+42G>T)
c.3055G>T (p.Asp1019Tyr)
c.3121G>T (p.Asp1041Tyr)
c.3013+42G>T (n.3013+42G>T)
c.3073G>T (p.Asp1025Tyr)
c.3016+42G>T (n.3016+42G>T)
c.3031+42G>T (n.3031+42G>T)
c.2938G>T (p.Asp980Tyr)
c.2937G>T (p.Pro979=)
16g.28836165A>CCA395410177ATXN2Lc.3128A>C (p.Asp1043Ala)
c.3085+43A>C (n.3085+43A>C)
c.1103A>C (p.Asp368Ala)
n.3502A>C
c.280+43A>C (n.280+43A>C)
c.3146A>C (p.Asp1049Ala)
c.2192A>C (n.2192A>C)
c.354+43A>C
c.1106A>C (p.Asp369Ala)
c.3149A>C (p.Asp1050Ala)
c.3131A>C (p.Asp1044Ala)
c.3106+43A>C (n.3106+43A>C)
c.3103+43A>C (n.3103+43A>C)
c.2969A>C (p.Asp990Ala)
c.3077A>C (p.Asp1026Ala)
c.3059A>C (p.Asp1020Ala)
c.2783A>C (p.Asp928Ala)
n.3358A>C
c.2951A>C (p.Asp984Ala)
c.2765A>C (p.Asp922Ala)
n.3361A>C
c.3088+43A>C (n.3088+43A>C)
c.3056A>C (p.Asp1019Ala)
c.3122A>C (p.Asp1041Ala)
c.3013+43A>C (n.3013+43A>C)
c.3074A>C (p.Asp1025Ala)
c.3016+43A>C (n.3016+43A>C)
c.3031+43A>C (n.3031+43A>C)
c.2939A>C (p.Asp980Ala)
c.2938A>C (p.Met980Leu)
16g.28836165A>GCA395410183ATXN2Lc.3128A>G (p.Asp1043Gly)
c.3085+43A>G (n.3085+43A>G)
c.1103A>G (p.Asp368Gly)
n.3502A>G
c.280+43A>G (n.280+43A>G)
c.3146A>G (p.Asp1049Gly)
c.2192A>G (n.2192A>G)
c.354+43A>G
c.1106A>G (p.Asp369Gly)
c.3149A>G (p.Asp1050Gly)
c.3131A>G (p.Asp1044Gly)
c.3106+43A>G (n.3106+43A>G)
c.3103+43A>G (n.3103+43A>G)
c.2969A>G (p.Asp990Gly)
c.3077A>G (p.Asp1026Gly)
c.3059A>G (p.Asp1020Gly)
c.2783A>G (p.Asp928Gly)
n.3358A>G
c.2951A>G (p.Asp984Gly)
c.2765A>G (p.Asp922Gly)
n.3361A>G
c.3088+43A>G (n.3088+43A>G)
c.3056A>G (p.Asp1019Gly)
c.3122A>G (p.Asp1041Gly)
c.3013+43A>G (n.3013+43A>G)
c.3074A>G (p.Asp1025Gly)
c.3016+43A>G (n.3016+43A>G)
c.3031+43A>G (n.3031+43A>G)
c.2939A>G (p.Asp980Gly)
c.2938A>G (p.Met980Val)
16g.28836165A>TCA395410185ATXN2Lc.3128A>T (p.Asp1043Val)
c.3085+43A>T (n.3085+43A>T)
c.1103A>T (p.Asp368Val)
n.3502A>T
c.280+43A>T (n.280+43A>T)
c.3146A>T (p.Asp1049Val)
c.2192A>T (n.2192A>T)
c.354+43A>T
c.1106A>T (p.Asp369Val)
c.3149A>T (p.Asp1050Val)
c.3131A>T (p.Asp1044Val)
c.3106+43A>T (n.3106+43A>T)
c.3103+43A>T (n.3103+43A>T)
c.2969A>T (p.Asp990Val)
c.3077A>T (p.Asp1026Val)
c.3059A>T (p.Asp1020Val)
c.2783A>T (p.Asp928Val)
n.3358A>T
c.2951A>T (p.Asp984Val)
c.2765A>T (p.Asp922Val)
n.3361A>T
c.3088+43A>T (n.3088+43A>T)
c.3056A>T (p.Asp1019Val)
c.3122A>T (p.Asp1041Val)
c.3013+43A>T (n.3013+43A>T)
c.3074A>T (p.Asp1025Val)
c.3016+43A>T (n.3016+43A>T)
c.3031+43A>T (n.3031+43A>T)
c.2939A>T (p.Asp980Val)
c.2938A>T (p.Met980Leu)
16g.28836166T>ACA395410188ATXN2Lc.3129T>A (p.Asp1043Glu)
c.3085+44T>A (n.3085+44T>A)
c.1104T>A (p.Asp368Glu)
n.3503T>A
c.280+44T>A (n.280+44T>A)
c.3147T>A (p.Asp1049Glu)
c.2193T>A (n.2193T>A)
c.354+44T>A
c.1107T>A (p.Asp369Glu)
c.3150T>A (p.Asp1050Glu)
c.3132T>A (p.Asp1044Glu)
c.3106+44T>A (n.3106+44T>A)
c.3103+44T>A (n.3103+44T>A)
c.2970T>A (p.Asp990Glu)
c.3078T>A (p.Asp1026Glu)
c.3060T>A (p.Asp1020Glu)
c.2784T>A (p.Asp928Glu)
n.3359T>A
c.2952T>A (p.Asp984Glu)
c.2766T>A (p.Asp922Glu)
n.3362T>A
c.3088+44T>A (n.3088+44T>A)
c.3057T>A (p.Asp1019Glu)
c.3123T>A (p.Asp1041Glu)
c.3013+44T>A (n.3013+44T>A)
c.3075T>A (p.Asp1025Glu)
c.3016+44T>A (n.3016+44T>A)
c.3031+44T>A (n.3031+44T>A)
c.2940T>A (p.Asp980Glu)
c.2939T>A (p.Met980Lys)
16g.28836166T>CCA494869218ATXN2Lc.3129T>C (p.Asp1043=)
c.3085+44T>C (n.3085+44T>C)
c.1104T>C (p.Asp368=)
n.3503T>C
c.280+44T>C (n.280+44T>C)
c.3147T>C (p.Asp1049=)
c.2193T>C (n.2193T>C)
c.354+44T>C
c.1107T>C (p.Asp369=)
c.3150T>C (p.Asp1050=)
c.3132T>C (p.Asp1044=)
c.3106+44T>C (n.3106+44T>C)
c.3103+44T>C (n.3103+44T>C)
c.2970T>C (p.Asp990=)
c.3078T>C (p.Asp1026=)
c.3060T>C (p.Asp1020=)
c.2784T>C (p.Asp928=)
n.3359T>C
c.2952T>C (p.Asp984=)
c.2766T>C (p.Asp922=)
n.3362T>C
c.3088+44T>C (n.3088+44T>C)
c.3057T>C (p.Asp1019=)
c.3123T>C (p.Asp1041=)
c.3013+44T>C (n.3013+44T>C)
c.3075T>C (p.Asp1025=)
c.3016+44T>C (n.3016+44T>C)
c.3031+44T>C (n.3031+44T>C)
c.2940T>C (p.Asp980=)
c.2939T>C (p.Met980Thr)
 gnomAD v4
16g.28836166T>GCA395410187ATXN2Lc.3129T>G (p.Asp1043Glu)
c.3085+44T>G (n.3085+44T>G)
c.1104T>G (p.Asp368Glu)
n.3503T>G
c.280+44T>G (n.280+44T>G)
c.3147T>G (p.Asp1049Glu)
c.2193T>G (n.2193T>G)
c.354+44T>G
c.1107T>G (p.Asp369Glu)
c.3150T>G (p.Asp1050Glu)
c.3132T>G (p.Asp1044Glu)
c.3106+44T>G (n.3106+44T>G)
c.3103+44T>G (n.3103+44T>G)
c.2970T>G (p.Asp990Glu)
c.3078T>G (p.Asp1026Glu)
c.3060T>G (p.Asp1020Glu)
c.2784T>G (p.Asp928Glu)
n.3359T>G
c.2952T>G (p.Asp984Glu)
c.2766T>G (p.Asp922Glu)
n.3362T>G
c.3088+44T>G (n.3088+44T>G)
c.3057T>G (p.Asp1019Glu)
c.3123T>G (p.Asp1041Glu)
c.3013+44T>G (n.3013+44T>G)
c.3075T>G (p.Asp1025Glu)
c.3016+44T>G (n.3016+44T>G)
c.3031+44T>G (n.3031+44T>G)
c.2940T>G (p.Asp980Glu)
c.2939T>G (p.Met980Arg)

Number of alleles fetched