Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28835571A>CCA395408011ATXN2Lc.2708A>C (p.His903Pro)
c.683A>C (p.His228Pro)
n.3082A>C
c.2726A>C (p.His909Pro)
c.1772A>C (n.1772A>C)
c.686A>C (p.His229Pro)
c.228A>C
c.2729A>C (p.His910Pro)
c.2711A>C (p.His904Pro)
c.2549A>C (p.His850Pro)
c.2657A>C (p.His886Pro)
c.2639A>C (p.His880Pro)
c.2363A>C (p.His788Pro)
n.2938A>C
c.2531A>C (p.His844Pro)
c.2345A>C (p.His782Pro)
n.2941A>C
c.2636A>C (p.His879Pro)
c.2702A>C (p.His901Pro)
c.2654A>C (p.His885Pro)
c.2519A>C (p.His840Pro)
16g.28835571A>GCA395408012ATXN2Lc.2708A>G (p.His903Arg)
c.683A>G (p.His228Arg)
n.3082A>G
c.2726A>G (p.His909Arg)
c.1772A>G (n.1772A>G)
c.686A>G (p.His229Arg)
c.228A>G
c.2729A>G (p.His910Arg)
c.2711A>G (p.His904Arg)
c.2549A>G (p.His850Arg)
c.2657A>G (p.His886Arg)
c.2639A>G (p.His880Arg)
c.2363A>G (p.His788Arg)
n.2938A>G
c.2531A>G (p.His844Arg)
c.2345A>G (p.His782Arg)
n.2941A>G
c.2636A>G (p.His879Arg)
c.2702A>G (p.His901Arg)
c.2654A>G (p.His885Arg)
c.2519A>G (p.His840Arg)
16g.28835571A>TCA395408014ATXN2Lc.2708A>T (p.His903Leu)
c.683A>T (p.His228Leu)
n.3082A>T
c.2726A>T (p.His909Leu)
c.1772A>T (n.1772A>T)
c.686A>T (p.His229Leu)
c.228A>T
c.2729A>T (p.His910Leu)
c.2711A>T (p.His904Leu)
c.2549A>T (p.His850Leu)
c.2657A>T (p.His886Leu)
c.2639A>T (p.His880Leu)
c.2363A>T (p.His788Leu)
n.2938A>T
c.2531A>T (p.His844Leu)
c.2345A>T (p.His782Leu)
n.2941A>T
c.2636A>T (p.His879Leu)
c.2702A>T (p.His901Leu)
c.2654A>T (p.His885Leu)
c.2519A>T (p.His840Leu)
16g.28835572C>ACA395408016ATXN2Lc.2709C>A (p.His903Gln)
c.684C>A (p.His228Gln)
n.3083C>A
c.2727C>A (p.His909Gln)
c.1773C>A (n.1773C>A)
c.687C>A (p.His229Gln)
c.229C>A
c.2730C>A (p.His910Gln)
c.2712C>A (p.His904Gln)
c.2550C>A (p.His850Gln)
c.2658C>A (p.His886Gln)
c.2640C>A (p.His880Gln)
c.2364C>A (p.His788Gln)
n.2939C>A
c.2532C>A (p.His844Gln)
c.2346C>A (p.His782Gln)
n.2942C>A
c.2637C>A (p.His879Gln)
c.2703C>A (p.His901Gln)
c.2655C>A (p.His885Gln)
c.2520C>A (p.His840Gln)
16g.28835572C=CA2215806280ATXN2Lc.2709C= (p.His903=)
c.684C= (p.His228=)
n.3083C=
c.2727C= (p.His909=)
c.1773C= (n.1773C=)
c.687C= (p.His229=)
c.229C=
c.2730C= (p.His910=)
c.2712C= (p.His904=)
c.2550C= (p.His850=)
c.2658C= (p.His886=)
c.2640C= (p.His880=)
c.2364C= (p.His788=)
n.2939C=
c.2532C= (p.His844=)
c.2346C= (p.His782=)
n.2942C=
c.2637C= (p.His879=)
c.2703C= (p.His901=)
c.2655C= (p.His885=)
c.2520C= (p.His840=)
16g.28835572C>GCA395408018ATXN2Lc.2709C>G (p.His903Gln)
c.684C>G (p.His228Gln)
n.3083C>G
c.2727C>G (p.His909Gln)
c.1773C>G (n.1773C>G)
c.687C>G (p.His229Gln)
c.229C>G
c.2730C>G (p.His910Gln)
c.2712C>G (p.His904Gln)
c.2550C>G (p.His850Gln)
c.2658C>G (p.His886Gln)
c.2640C>G (p.His880Gln)
c.2364C>G (p.His788Gln)
n.2939C>G
c.2532C>G (p.His844Gln)
c.2346C>G (p.His782Gln)
n.2942C>G
c.2637C>G (p.His879Gln)
c.2703C>G (p.His901Gln)
c.2655C>G (p.His885Gln)
c.2520C>G (p.His840Gln)
16g.28835572C>TCA494869428ATXN2Lc.2709C>T (p.His903=)
c.684C>T (p.His228=)
n.3083C>T
c.2727C>T (p.His909=)
c.1773C>T (n.1773C>T)
c.687C>T (p.His229=)
c.229C>T
c.2730C>T (p.His910=)
c.2712C>T (p.His904=)
c.2550C>T (p.His850=)
c.2658C>T (p.His886=)
c.2640C>T (p.His880=)
c.2364C>T (p.His788=)
n.2939C>T
c.2532C>T (p.His844=)
c.2346C>T (p.His782=)
n.2942C>T
c.2637C>T (p.His879=)
c.2703C>T (p.His901=)
c.2655C>T (p.His885=)
c.2520C>T (p.His840=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835573T>ACA395408021ATXN2Lc.2710T>A (p.Leu904Met)
c.685T>A (p.Leu229Met)
n.3084T>A
c.2728T>A (p.Leu910Met)
c.1774T>A (n.1774T>A)
c.688T>A (p.Leu230Met)
c.230T>A
c.2731T>A (p.Leu911Met)
c.2713T>A (p.Leu905Met)
c.2551T>A (p.Leu851Met)
c.2659T>A (p.Leu887Met)
c.2641T>A (p.Leu881Met)
c.2365T>A (p.Leu789Met)
n.2940T>A
c.2533T>A (p.Leu845Met)
c.2347T>A (p.Leu783Met)
n.2943T>A
c.2638T>A (p.Leu880Met)
c.2704T>A (p.Leu902Met)
c.2656T>A (p.Leu886Met)
c.2521T>A (p.Leu841Met)
16g.28835573T>CCA494869432ATXN2Lc.2710T>C (p.Leu904=)
c.685T>C (p.Leu229=)
n.3084T>C
c.2728T>C (p.Leu910=)
c.1774T>C (n.1774T>C)
c.688T>C (p.Leu230=)
c.230T>C
c.2731T>C (p.Leu911=)
c.2713T>C (p.Leu905=)
c.2551T>C (p.Leu851=)
c.2659T>C (p.Leu887=)
c.2641T>C (p.Leu881=)
c.2365T>C (p.Leu789=)
n.2940T>C
c.2533T>C (p.Leu845=)
c.2347T>C (p.Leu783=)
n.2943T>C
c.2638T>C (p.Leu880=)
c.2704T>C (p.Leu902=)
c.2656T>C (p.Leu886=)
c.2521T>C (p.Leu841=)
16g.28835573T>GCA395408022ATXN2Lc.2710T>G (p.Leu904Val)
c.685T>G (p.Leu229Val)
n.3084T>G
c.2728T>G (p.Leu910Val)
c.1774T>G (n.1774T>G)
c.688T>G (p.Leu230Val)
c.230T>G
c.2731T>G (p.Leu911Val)
c.2713T>G (p.Leu905Val)
c.2551T>G (p.Leu851Val)
c.2659T>G (p.Leu887Val)
c.2641T>G (p.Leu881Val)
c.2365T>G (p.Leu789Val)
n.2940T>G
c.2533T>G (p.Leu845Val)
c.2347T>G (p.Leu783Val)
n.2943T>G
c.2638T>G (p.Leu880Val)
c.2704T>G (p.Leu902Val)
c.2656T>G (p.Leu886Val)
c.2521T>G (p.Leu841Val)
 gnomAD v4
16g.28835574T>ACA395408027ATXN2Lc.2711T>A (p.Leu904Ter)
c.686T>A (p.Leu229Ter)
n.3085T>A
c.2729T>A (p.Leu910Ter)
c.1775T>A (n.1775T>A)
c.689T>A (p.Leu230Ter)
c.231T>A
c.2732T>A (p.Leu911Ter)
c.2714T>A (p.Leu905Ter)
c.2552T>A (p.Leu851Ter)
c.2660T>A (p.Leu887Ter)
c.2642T>A (p.Leu881Ter)
c.2366T>A (p.Leu789Ter)
n.2941T>A
c.2534T>A (p.Leu845Ter)
c.2348T>A (p.Leu783Ter)
n.2944T>A
c.2639T>A (p.Leu880Ter)
c.2705T>A (p.Leu902Ter)
c.2657T>A (p.Leu886Ter)
c.2522T>A (p.Leu841Ter)
16g.28835574T>CCA395408026ATXN2Lc.2711T>C (p.Leu904Ser)
c.686T>C (p.Leu229Ser)
n.3085T>C
c.2729T>C (p.Leu910Ser)
c.1775T>C (n.1775T>C)
c.689T>C (p.Leu230Ser)
c.231T>C
c.2732T>C (p.Leu911Ser)
c.2714T>C (p.Leu905Ser)
c.2552T>C (p.Leu851Ser)
c.2660T>C (p.Leu887Ser)
c.2642T>C (p.Leu881Ser)
c.2366T>C (p.Leu789Ser)
n.2941T>C
c.2534T>C (p.Leu845Ser)
c.2348T>C (p.Leu783Ser)
n.2944T>C
c.2639T>C (p.Leu880Ser)
c.2705T>C (p.Leu902Ser)
c.2657T>C (p.Leu886Ser)
c.2522T>C (p.Leu841Ser)
16g.28835574T>GCA395408024ATXN2Lc.2711T>G (p.Leu904Trp)
c.686T>G (p.Leu229Trp)
n.3085T>G
c.2729T>G (p.Leu910Trp)
c.1775T>G (n.1775T>G)
c.689T>G (p.Leu230Trp)
c.231T>G
c.2732T>G (p.Leu911Trp)
c.2714T>G (p.Leu905Trp)
c.2552T>G (p.Leu851Trp)
c.2660T>G (p.Leu887Trp)
c.2642T>G (p.Leu881Trp)
c.2366T>G (p.Leu789Trp)
n.2941T>G
c.2534T>G (p.Leu845Trp)
c.2348T>G (p.Leu783Trp)
n.2944T>G
c.2639T>G (p.Leu880Trp)
c.2705T>G (p.Leu902Trp)
c.2657T>G (p.Leu886Trp)
c.2522T>G (p.Leu841Trp)
16g.28835575G>ACA494869443ATXN2Lc.2712G>A (p.Leu904=)
c.687G>A (p.Leu229=)
n.3086G>A
c.2730G>A (p.Leu910=)
c.1776G>A (n.1776G>A)
c.690G>A (p.Leu230=)
c.232G>A
c.2733G>A (p.Leu911=)
c.2715G>A (p.Leu905=)
c.2553G>A (p.Leu851=)
c.2661G>A (p.Leu887=)
c.2643G>A (p.Leu881=)
c.2367G>A (p.Leu789=)
n.2942G>A
c.2535G>A (p.Leu845=)
c.2349G>A (p.Leu783=)
n.2945G>A
c.2640G>A (p.Leu880=)
c.2706G>A (p.Leu902=)
c.2658G>A (p.Leu886=)
c.2523G>A (p.Leu841=)
 COSMIC COSMIC COSMIC COSMIC
16g.28835575G>CCA395408029ATXN2Lc.2712G>C (p.Leu904Phe)
c.687G>C (p.Leu229Phe)
n.3086G>C
c.2730G>C (p.Leu910Phe)
c.1776G>C (n.1776G>C)
c.690G>C (p.Leu230Phe)
c.232G>C
c.2733G>C (p.Leu911Phe)
c.2715G>C (p.Leu905Phe)
c.2553G>C (p.Leu851Phe)
c.2661G>C (p.Leu887Phe)
c.2643G>C (p.Leu881Phe)
c.2367G>C (p.Leu789Phe)
n.2942G>C
c.2535G>C (p.Leu845Phe)
c.2349G>C (p.Leu783Phe)
n.2945G>C
c.2640G>C (p.Leu880Phe)
c.2706G>C (p.Leu902Phe)
c.2658G>C (p.Leu886Phe)
c.2523G>C (p.Leu841Phe)
16g.28835575G>TCA395408031ATXN2Lc.2712G>T (p.Leu904Phe)
c.687G>T (p.Leu229Phe)
n.3086G>T
c.2730G>T (p.Leu910Phe)
c.1776G>T (n.1776G>T)
c.690G>T (p.Leu230Phe)
c.232G>T
c.2733G>T (p.Leu911Phe)
c.2715G>T (p.Leu905Phe)
c.2553G>T (p.Leu851Phe)
c.2661G>T (p.Leu887Phe)
c.2643G>T (p.Leu881Phe)
c.2367G>T (p.Leu789Phe)
n.2942G>T
c.2535G>T (p.Leu845Phe)
c.2349G>T (p.Leu783Phe)
n.2945G>T
c.2640G>T (p.Leu880Phe)
c.2706G>T (p.Leu902Phe)
c.2658G>T (p.Leu886Phe)
c.2523G>T (p.Leu841Phe)
16g.28835576G>ACA395408033ATXN2Lc.2713G>A (p.Gly905Ser)
c.688G>A (p.Gly230Ser)
n.3087G>A
c.2731G>A (p.Gly911Ser)
c.1777G>A (n.1777G>A)
c.691G>A (p.Gly231Ser)
c.233G>A
c.2734G>A (p.Gly912Ser)
c.2716G>A (p.Gly906Ser)
c.2554G>A (p.Gly852Ser)
c.2662G>A (p.Gly888Ser)
c.2644G>A (p.Gly882Ser)
c.2368G>A (p.Gly790Ser)
n.2943G>A
c.2536G>A (p.Gly846Ser)
c.2350G>A (p.Gly784Ser)
n.2946G>A
c.2641G>A (p.Gly881Ser)
c.2707G>A (p.Gly903Ser)
c.2659G>A (p.Gly887Ser)
c.2524G>A (p.Gly842Ser)
16g.28835576G>CCA395408035ATXN2Lc.2713G>C (p.Gly905Arg)
c.688G>C (p.Gly230Arg)
n.3087G>C
c.2731G>C (p.Gly911Arg)
c.1777G>C (n.1777G>C)
c.691G>C (p.Gly231Arg)
c.233G>C
c.2734G>C (p.Gly912Arg)
c.2716G>C (p.Gly906Arg)
c.2554G>C (p.Gly852Arg)
c.2662G>C (p.Gly888Arg)
c.2644G>C (p.Gly882Arg)
c.2368G>C (p.Gly790Arg)
n.2943G>C
c.2536G>C (p.Gly846Arg)
c.2350G>C (p.Gly784Arg)
n.2946G>C
c.2641G>C (p.Gly881Arg)
c.2707G>C (p.Gly903Arg)
c.2659G>C (p.Gly887Arg)
c.2524G>C (p.Gly842Arg)
16g.28835576G=CA2215806282ATXN2Lc.2713G= (p.Gly905=)
c.688G= (p.Gly230=)
n.3087G=
c.2731G= (p.Gly911=)
c.1777G= (n.1777G=)
c.691G= (p.Gly231=)
c.233G=
c.2734G= (p.Gly912=)
c.2716G= (p.Gly906=)
c.2554G= (p.Gly852=)
c.2662G= (p.Gly888=)
c.2644G= (p.Gly882=)
c.2368G= (p.Gly790=)
n.2943G=
c.2536G= (p.Gly846=)
c.2350G= (p.Gly784=)
n.2946G=
c.2641G= (p.Gly881=)
c.2707G= (p.Gly903=)
c.2659G= (p.Gly887=)
c.2524G= (p.Gly842=)
16g.28835576G>TCA395408037ATXN2Lc.2713G>T (p.Gly905Cys)
c.688G>T (p.Gly230Cys)
n.3087G>T
c.2731G>T (p.Gly911Cys)
c.1777G>T (n.1777G>T)
c.691G>T (p.Gly231Cys)
c.233G>T
c.2734G>T (p.Gly912Cys)
c.2716G>T (p.Gly906Cys)
c.2554G>T (p.Gly852Cys)
c.2662G>T (p.Gly888Cys)
c.2644G>T (p.Gly882Cys)
c.2368G>T (p.Gly790Cys)
n.2943G>T
c.2536G>T (p.Gly846Cys)
c.2350G>T (p.Gly784Cys)
n.2946G>T
c.2641G>T (p.Gly881Cys)
c.2707G>T (p.Gly903Cys)
c.2659G>T (p.Gly887Cys)
c.2524G>T (p.Gly842Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.28835577G>ACA395408040ATXN2Lc.2714G>A (p.Gly905Asp)
c.689G>A (p.Gly230Asp)
n.3088G>A
c.2732G>A (p.Gly911Asp)
c.1778G>A (n.1778G>A)
c.692G>A (p.Gly231Asp)
c.234G>A
c.2735G>A (p.Gly912Asp)
c.2717G>A (p.Gly906Asp)
c.2555G>A (p.Gly852Asp)
c.2663G>A (p.Gly888Asp)
c.2645G>A (p.Gly882Asp)
c.2369G>A (p.Gly790Asp)
n.2944G>A
c.2537G>A (p.Gly846Asp)
c.2351G>A (p.Gly784Asp)
n.2947G>A
c.2642G>A (p.Gly881Asp)
c.2708G>A (p.Gly903Asp)
c.2660G>A (p.Gly887Asp)
c.2525G>A (p.Gly842Asp)
 gnomAD v4
16g.28835577G>CCA395408042ATXN2Lc.2714G>C (p.Gly905Ala)
c.689G>C (p.Gly230Ala)
n.3088G>C
c.2732G>C (p.Gly911Ala)
c.1778G>C (n.1778G>C)
c.692G>C (p.Gly231Ala)
c.234G>C
c.2735G>C (p.Gly912Ala)
c.2717G>C (p.Gly906Ala)
c.2555G>C (p.Gly852Ala)
c.2663G>C (p.Gly888Ala)
c.2645G>C (p.Gly882Ala)
c.2369G>C (p.Gly790Ala)
n.2944G>C
c.2537G>C (p.Gly846Ala)
c.2351G>C (p.Gly784Ala)
n.2947G>C
c.2642G>C (p.Gly881Ala)
c.2708G>C (p.Gly903Ala)
c.2660G>C (p.Gly887Ala)
c.2525G>C (p.Gly842Ala)
16g.28835577G>TCA395408044ATXN2Lc.2714G>T (p.Gly905Val)
c.689G>T (p.Gly230Val)
n.3088G>T
c.2732G>T (p.Gly911Val)
c.1778G>T (n.1778G>T)
c.692G>T (p.Gly231Val)
c.234G>T
c.2735G>T (p.Gly912Val)
c.2717G>T (p.Gly906Val)
c.2555G>T (p.Gly852Val)
c.2663G>T (p.Gly888Val)
c.2645G>T (p.Gly882Val)
c.2369G>T (p.Gly790Val)
n.2944G>T
c.2537G>T (p.Gly846Val)
c.2351G>T (p.Gly784Val)
n.2947G>T
c.2642G>T (p.Gly881Val)
c.2708G>T (p.Gly903Val)
c.2660G>T (p.Gly887Val)
c.2525G>T (p.Gly842Val)
 gnomAD v4
16g.28835578C>ACA494869460ATXN2Lc.2715C>A (p.Gly905=)
c.690C>A (p.Gly230=)
n.3089C>A
c.2733C>A (p.Gly911=)
c.1779C>A (n.1779C>A)
c.693C>A (p.Gly231=)
c.235C>A
c.2736C>A (p.Gly912=)
c.2718C>A (p.Gly906=)
c.2556C>A (p.Gly852=)
c.2664C>A (p.Gly888=)
c.2646C>A (p.Gly882=)
c.2370C>A (p.Gly790=)
n.2945C>A
c.2538C>A (p.Gly846=)
c.2352C>A (p.Gly784=)
n.2948C>A
c.2643C>A (p.Gly881=)
c.2709C>A (p.Gly903=)
c.2661C>A (p.Gly887=)
c.2526C>A (p.Gly842=)
16g.28835578C=CA2215806287ATXN2Lc.2715C= (p.Gly905=)
c.690C= (p.Gly230=)
n.3089C=
c.2733C= (p.Gly911=)
c.1779C= (n.1779C=)
c.693C= (p.Gly231=)
c.235C=
c.2736C= (p.Gly912=)
c.2718C= (p.Gly906=)
c.2556C= (p.Gly852=)
c.2664C= (p.Gly888=)
c.2646C= (p.Gly882=)
c.2370C= (p.Gly790=)
n.2945C=
c.2538C= (p.Gly846=)
c.2352C= (p.Gly784=)
n.2948C=
c.2643C= (p.Gly881=)
c.2709C= (p.Gly903=)
c.2661C= (p.Gly887=)
c.2526C= (p.Gly842=)
16g.28835578C>GCA494869463ATXN2Lc.2715C>G (p.Gly905=)
c.690C>G (p.Gly230=)
n.3089C>G
c.2733C>G (p.Gly911=)
c.1779C>G (n.1779C>G)
c.693C>G (p.Gly231=)
c.235C>G
c.2736C>G (p.Gly912=)
c.2718C>G (p.Gly906=)
c.2556C>G (p.Gly852=)
c.2664C>G (p.Gly888=)
c.2646C>G (p.Gly882=)
c.2370C>G (p.Gly790=)
n.2945C>G
c.2538C>G (p.Gly846=)
c.2352C>G (p.Gly784=)
n.2948C>G
c.2643C>G (p.Gly881=)
c.2709C>G (p.Gly903=)
c.2661C>G (p.Gly887=)
c.2526C>G (p.Gly842=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835578C>TCA494869466ATXN2Lc.2715C>T (p.Gly905=)
c.690C>T (p.Gly230=)
n.3089C>T
c.2733C>T (p.Gly911=)
c.1779C>T (n.1779C>T)
c.693C>T (p.Gly231=)
c.235C>T
c.2736C>T (p.Gly912=)
c.2718C>T (p.Gly906=)
c.2556C>T (p.Gly852=)
c.2664C>T (p.Gly888=)
c.2646C>T (p.Gly882=)
c.2370C>T (p.Gly790=)
n.2945C>T
c.2538C>T (p.Gly846=)
c.2352C>T (p.Gly784=)
n.2948C>T
c.2643C>T (p.Gly881=)
c.2709C>T (p.Gly903=)
c.2661C>T (p.Gly887=)
c.2526C>T (p.Gly842=)
16g.28835579A=CA2215806290ATXN2Lc.2716A= (p.Ser906=)
c.691A= (p.Ser231=)
n.3090A=
c.2734A= (p.Ser912=)
c.1780A= (n.1780A=)
c.694A= (p.Ser232=)
c.236A=
c.2737A= (p.Ser913=)
c.2719A= (p.Ser907=)
c.2557A= (p.Ser853=)
c.2665A= (p.Ser889=)
c.2647A= (p.Ser883=)
c.2371A= (p.Ser791=)
n.2946A=
c.2539A= (p.Ser847=)
c.2353A= (p.Ser785=)
n.2949A=
c.2644A= (p.Ser882=)
c.2710A= (p.Ser904=)
c.2662A= (p.Ser888=)
c.2527A= (p.Ser843=)
16g.28835579A>CCA395408046ATXN2Lc.2716A>C (p.Ser906Arg)
c.691A>C (p.Ser231Arg)
n.3090A>C
c.2734A>C (p.Ser912Arg)
c.1780A>C (n.1780A>C)
c.694A>C (p.Ser232Arg)
c.236A>C
c.2737A>C (p.Ser913Arg)
c.2719A>C (p.Ser907Arg)
c.2557A>C (p.Ser853Arg)
c.2665A>C (p.Ser889Arg)
c.2647A>C (p.Ser883Arg)
c.2371A>C (p.Ser791Arg)
n.2946A>C
c.2539A>C (p.Ser847Arg)
c.2353A>C (p.Ser785Arg)
n.2949A>C
c.2644A>C (p.Ser882Arg)
c.2710A>C (p.Ser904Arg)
c.2662A>C (p.Ser888Arg)
c.2527A>C (p.Ser843Arg)
16g.28835579A>GCA7985079ATXN2Lc.2716A>G (p.Ser906Gly)
c.691A>G (p.Ser231Gly)
n.3090A>G
c.2734A>G (p.Ser912Gly)
c.1780A>G (n.1780A>G)
c.694A>G (p.Ser232Gly)
c.236A>G
c.2737A>G (p.Ser913Gly)
c.2719A>G (p.Ser907Gly)
c.2557A>G (p.Ser853Gly)
c.2665A>G (p.Ser889Gly)
c.2647A>G (p.Ser883Gly)
c.2371A>G (p.Ser791Gly)
n.2946A>G
c.2539A>G (p.Ser847Gly)
c.2353A>G (p.Ser785Gly)
n.2949A>G
c.2644A>G (p.Ser882Gly)
c.2710A>G (p.Ser904Gly)
c.2662A>G (p.Ser888Gly)
c.2527A>G (p.Ser843Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835579A>TCA395408048ATXN2Lc.2716A>T (p.Ser906Cys)
c.691A>T (p.Ser231Cys)
n.3090A>T
c.2734A>T (p.Ser912Cys)
c.1780A>T (n.1780A>T)
c.694A>T (p.Ser232Cys)
c.236A>T
c.2737A>T (p.Ser913Cys)
c.2719A>T (p.Ser907Cys)
c.2557A>T (p.Ser853Cys)
c.2665A>T (p.Ser889Cys)
c.2647A>T (p.Ser883Cys)
c.2371A>T (p.Ser791Cys)
n.2946A>T
c.2539A>T (p.Ser847Cys)
c.2353A>T (p.Ser785Cys)
n.2949A>T
c.2644A>T (p.Ser882Cys)
c.2710A>T (p.Ser904Cys)
c.2662A>T (p.Ser888Cys)
c.2527A>T (p.Ser843Cys)
16g.28835580G>ACA7985080ATXN2Lc.2717G>A (p.Ser906Asn)
c.692G>A (p.Ser231Asn)
n.3091G>A
c.2735G>A (p.Ser912Asn)
c.1781G>A (n.1781G>A)
c.695G>A (p.Ser232Asn)
c.237G>A
c.2738G>A (p.Ser913Asn)
c.2720G>A (p.Ser907Asn)
c.2558G>A (p.Ser853Asn)
c.2666G>A (p.Ser889Asn)
c.2648G>A (p.Ser883Asn)
c.2372G>A (p.Ser791Asn)
n.2947G>A
c.2540G>A (p.Ser847Asn)
c.2354G>A (p.Ser785Asn)
n.2950G>A
c.2645G>A (p.Ser882Asn)
c.2711G>A (p.Ser904Asn)
c.2663G>A (p.Ser888Asn)
c.2528G>A (p.Ser843Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835580G>CCA7985081ATXN2Lc.2717G>C (p.Ser906Thr)
c.692G>C (p.Ser231Thr)
n.3091G>C
c.2735G>C (p.Ser912Thr)
c.1781G>C (n.1781G>C)
c.695G>C (p.Ser232Thr)
c.237G>C
c.2738G>C (p.Ser913Thr)
c.2720G>C (p.Ser907Thr)
c.2558G>C (p.Ser853Thr)
c.2666G>C (p.Ser889Thr)
c.2648G>C (p.Ser883Thr)
c.2372G>C (p.Ser791Thr)
n.2947G>C
c.2540G>C (p.Ser847Thr)
c.2354G>C (p.Ser785Thr)
n.2950G>C
c.2645G>C (p.Ser882Thr)
c.2711G>C (p.Ser904Thr)
c.2663G>C (p.Ser888Thr)
c.2528G>C (p.Ser843Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835580G=CA2215806294ATXN2Lc.2717G= (p.Ser906=)
c.692G= (p.Ser231=)
n.3091G=
c.2735G= (p.Ser912=)
c.1781G= (n.1781G=)
c.695G= (p.Ser232=)
c.237G=
c.2738G= (p.Ser913=)
c.2720G= (p.Ser907=)
c.2558G= (p.Ser853=)
c.2666G= (p.Ser889=)
c.2648G= (p.Ser883=)
c.2372G= (p.Ser791=)
n.2947G=
c.2540G= (p.Ser847=)
c.2354G= (p.Ser785=)
n.2950G=
c.2645G= (p.Ser882=)
c.2711G= (p.Ser904=)
c.2663G= (p.Ser888=)
c.2528G= (p.Ser843=)
16g.28835580G>TCA395408051ATXN2Lc.2717G>T (p.Ser906Ile)
c.692G>T (p.Ser231Ile)
n.3091G>T
c.2735G>T (p.Ser912Ile)
c.1781G>T (n.1781G>T)
c.695G>T (p.Ser232Ile)
c.237G>T
c.2738G>T (p.Ser913Ile)
c.2720G>T (p.Ser907Ile)
c.2558G>T (p.Ser853Ile)
c.2666G>T (p.Ser889Ile)
c.2648G>T (p.Ser883Ile)
c.2372G>T (p.Ser791Ile)
n.2947G>T
c.2540G>T (p.Ser847Ile)
c.2354G>T (p.Ser785Ile)
n.2950G>T
c.2645G>T (p.Ser882Ile)
c.2711G>T (p.Ser904Ile)
c.2663G>T (p.Ser888Ile)
c.2528G>T (p.Ser843Ile)
 gnomAD v4
16g.28835581T>ACA395408052ATXN2Lc.2718T>A (p.Ser906Arg)
c.693T>A (p.Ser231Arg)
n.3092T>A
c.2736T>A (p.Ser912Arg)
c.1782T>A (n.1782T>A)
c.696T>A (p.Ser232Arg)
c.238T>A
c.2739T>A (p.Ser913Arg)
c.2721T>A (p.Ser907Arg)
c.2559T>A (p.Ser853Arg)
c.2667T>A (p.Ser889Arg)
c.2649T>A (p.Ser883Arg)
c.2373T>A (p.Ser791Arg)
n.2948T>A
c.2541T>A (p.Ser847Arg)
c.2355T>A (p.Ser785Arg)
n.2951T>A
c.2646T>A (p.Ser882Arg)
c.2712T>A (p.Ser904Arg)
c.2664T>A (p.Ser888Arg)
c.2529T>A (p.Ser843Arg)
16g.28835581T>CCA494868221ATXN2Lc.2718T>C (p.Ser906=)
c.693T>C (p.Ser231=)
n.3092T>C
c.2736T>C (p.Ser912=)
c.1782T>C (n.1782T>C)
c.696T>C (p.Ser232=)
c.238T>C
c.2739T>C (p.Ser913=)
c.2721T>C (p.Ser907=)
c.2559T>C (p.Ser853=)
c.2667T>C (p.Ser889=)
c.2649T>C (p.Ser883=)
c.2373T>C (p.Ser791=)
n.2948T>C
c.2541T>C (p.Ser847=)
c.2355T>C (p.Ser785=)
n.2951T>C
c.2646T>C (p.Ser882=)
c.2712T>C (p.Ser904=)
c.2664T>C (p.Ser888=)
c.2529T>C (p.Ser843=)
16g.28835581T>GCA395408054ATXN2Lc.2718T>G (p.Ser906Arg)
c.693T>G (p.Ser231Arg)
n.3092T>G
c.2736T>G (p.Ser912Arg)
c.1782T>G (n.1782T>G)
c.696T>G (p.Ser232Arg)
c.238T>G
c.2739T>G (p.Ser913Arg)
c.2721T>G (p.Ser907Arg)
c.2559T>G (p.Ser853Arg)
c.2667T>G (p.Ser889Arg)
c.2649T>G (p.Ser883Arg)
c.2373T>G (p.Ser791Arg)
n.2948T>G
c.2541T>G (p.Ser847Arg)
c.2355T>G (p.Ser785Arg)
n.2951T>G
c.2646T>G (p.Ser882Arg)
c.2712T>G (p.Ser904Arg)
c.2664T>G (p.Ser888Arg)
c.2529T>G (p.Ser843Arg)
16g.28835582G>ACA395408055ATXN2Lc.2719G>A (p.Gly907Arg)
c.694G>A (p.Gly232Arg)
n.3093G>A
c.2737G>A (p.Gly913Arg)
c.1783G>A (n.1783G>A)
c.697G>A (p.Gly233Arg)
c.239G>A
c.2740G>A (p.Gly914Arg)
c.2722G>A (p.Gly908Arg)
c.2560G>A (p.Gly854Arg)
c.2668G>A (p.Gly890Arg)
c.2650G>A (p.Gly884Arg)
c.2374G>A (p.Gly792Arg)
n.2949G>A
c.2542G>A (p.Gly848Arg)
c.2356G>A (p.Gly786Arg)
n.2952G>A
c.2647G>A (p.Gly883Arg)
c.2713G>A (p.Gly905Arg)
c.2665G>A (p.Gly889Arg)
c.2530G>A (p.Gly844Arg)
16g.28835582G>CCA395408056ATXN2Lc.2719G>C (p.Gly907Arg)
c.694G>C (p.Gly232Arg)
n.3093G>C
c.2737G>C (p.Gly913Arg)
c.1783G>C (n.1783G>C)
c.697G>C (p.Gly233Arg)
c.239G>C
c.2740G>C (p.Gly914Arg)
c.2722G>C (p.Gly908Arg)
c.2560G>C (p.Gly854Arg)
c.2668G>C (p.Gly890Arg)
c.2650G>C (p.Gly884Arg)
c.2374G>C (p.Gly792Arg)
n.2949G>C
c.2542G>C (p.Gly848Arg)
c.2356G>C (p.Gly786Arg)
n.2952G>C
c.2647G>C (p.Gly883Arg)
c.2713G>C (p.Gly905Arg)
c.2665G>C (p.Gly889Arg)
c.2530G>C (p.Gly844Arg)
16g.28835582G>TCA395408058ATXN2Lc.2719G>T (p.Gly907Ter)
c.694G>T (p.Gly232Ter)
n.3093G>T
c.2737G>T (p.Gly913Ter)
c.1783G>T (n.1783G>T)
c.697G>T (p.Gly233Ter)
c.239G>T
c.2740G>T (p.Gly914Ter)
c.2722G>T (p.Gly908Ter)
c.2560G>T (p.Gly854Ter)
c.2668G>T (p.Gly890Ter)
c.2650G>T (p.Gly884Ter)
c.2374G>T (p.Gly792Ter)
n.2949G>T
c.2542G>T (p.Gly848Ter)
c.2356G>T (p.Gly786Ter)
n.2952G>T
c.2647G>T (p.Gly883Ter)
c.2713G>T (p.Gly905Ter)
c.2665G>T (p.Gly889Ter)
c.2530G>T (p.Gly844Ter)
16g.28835583G>ACA395408061ATXN2Lc.2720G>A (p.Gly907Glu)
c.695G>A (p.Gly232Glu)
n.3094G>A
c.2738G>A (p.Gly913Glu)
c.1784G>A (n.1784G>A)
c.698G>A (p.Gly233Glu)
c.240G>A
c.2741G>A (p.Gly914Glu)
c.2723G>A (p.Gly908Glu)
c.2561G>A (p.Gly854Glu)
c.2669G>A (p.Gly890Glu)
c.2651G>A (p.Gly884Glu)
c.2375G>A (p.Gly792Glu)
n.2950G>A
c.2543G>A (p.Gly848Glu)
c.2357G>A (p.Gly786Glu)
n.2953G>A
c.2648G>A (p.Gly883Glu)
c.2714G>A (p.Gly905Glu)
c.2666G>A (p.Gly889Glu)
c.2531G>A (p.Gly844Glu)
16g.28835583G>CCA395408062ATXN2Lc.2720G>C (p.Gly907Ala)
c.695G>C (p.Gly232Ala)
n.3094G>C
c.2738G>C (p.Gly913Ala)
c.1784G>C (n.1784G>C)
c.698G>C (p.Gly233Ala)
c.240G>C
c.2741G>C (p.Gly914Ala)
c.2723G>C (p.Gly908Ala)
c.2561G>C (p.Gly854Ala)
c.2669G>C (p.Gly890Ala)
c.2651G>C (p.Gly884Ala)
c.2375G>C (p.Gly792Ala)
n.2950G>C
c.2543G>C (p.Gly848Ala)
c.2357G>C (p.Gly786Ala)
n.2953G>C
c.2648G>C (p.Gly883Ala)
c.2714G>C (p.Gly905Ala)
c.2666G>C (p.Gly889Ala)
c.2531G>C (p.Gly844Ala)
16g.28835583G>TCA395408063ATXN2Lc.2720G>T (p.Gly907Val)
c.695G>T (p.Gly232Val)
n.3094G>T
c.2738G>T (p.Gly913Val)
c.1784G>T (n.1784G>T)
c.698G>T (p.Gly233Val)
c.240G>T
c.2741G>T (p.Gly914Val)
c.2723G>T (p.Gly908Val)
c.2561G>T (p.Gly854Val)
c.2669G>T (p.Gly890Val)
c.2651G>T (p.Gly884Val)
c.2375G>T (p.Gly792Val)
n.2950G>T
c.2543G>T (p.Gly848Val)
c.2357G>T (p.Gly786Val)
n.2953G>T
c.2648G>T (p.Gly883Val)
c.2714G>T (p.Gly905Val)
c.2666G>T (p.Gly889Val)
c.2531G>T (p.Gly844Val)
16g.28835584A>CCA494868244ATXN2Lc.2721A>C (p.Gly907=)
c.696A>C (p.Gly232=)
n.3095A>C
c.2739A>C (p.Gly913=)
c.1785A>C (n.1785A>C)
c.699A>C (p.Gly233=)
c.241A>C
c.2742A>C (p.Gly914=)
c.2724A>C (p.Gly908=)
c.2562A>C (p.Gly854=)
c.2670A>C (p.Gly890=)
c.2652A>C (p.Gly884=)
c.2376A>C (p.Gly792=)
n.2951A>C
c.2544A>C (p.Gly848=)
c.2358A>C (p.Gly786=)
n.2954A>C
c.2649A>C (p.Gly883=)
c.2715A>C (p.Gly905=)
c.2667A>C (p.Gly889=)
c.2532A>C (p.Gly844=)
16g.28835584A>GCA494868241ATXN2Lc.2721A>G (p.Gly907=)
c.696A>G (p.Gly232=)
n.3095A>G
c.2739A>G (p.Gly913=)
c.1785A>G (n.1785A>G)
c.699A>G (p.Gly233=)
c.241A>G
c.2742A>G (p.Gly914=)
c.2724A>G (p.Gly908=)
c.2562A>G (p.Gly854=)
c.2670A>G (p.Gly890=)
c.2652A>G (p.Gly884=)
c.2376A>G (p.Gly792=)
n.2951A>G
c.2544A>G (p.Gly848=)
c.2358A>G (p.Gly786=)
n.2954A>G
c.2649A>G (p.Gly883=)
c.2715A>G (p.Gly905=)
c.2667A>G (p.Gly889=)
c.2532A>G (p.Gly844=)
16g.28835584A>TCA494868239ATXN2Lc.2721A>T (p.Gly907=)
c.696A>T (p.Gly232=)
n.3095A>T
c.2739A>T (p.Gly913=)
c.1785A>T (n.1785A>T)
c.699A>T (p.Gly233=)
c.241A>T
c.2742A>T (p.Gly914=)
c.2724A>T (p.Gly908=)
c.2562A>T (p.Gly854=)
c.2670A>T (p.Gly890=)
c.2652A>T (p.Gly884=)
c.2376A>T (p.Gly792=)
n.2951A>T
c.2544A>T (p.Gly848=)
c.2358A>T (p.Gly786=)
n.2954A>T
c.2649A>T (p.Gly883=)
c.2715A>T (p.Gly905=)
c.2667A>T (p.Gly889=)
c.2532A>T (p.Gly844=)
16g.28835585C>ACA395408066ATXN2Lc.2722C>A (p.Gln908Lys)
c.697C>A (p.Gln233Lys)
n.3096C>A
c.2740C>A (p.Gln914Lys)
c.1786C>A (n.1786C>A)
c.700C>A (p.Gln234Lys)
c.242C>A
c.2743C>A (p.Gln915Lys)
c.2725C>A (p.Gln909Lys)
c.2563C>A (p.Gln855Lys)
c.2671C>A (p.Gln891Lys)
c.2653C>A (p.Gln885Lys)
c.2377C>A (p.Gln793Lys)
n.2952C>A
c.2545C>A (p.Gln849Lys)
c.2359C>A (p.Gln787Lys)
n.2955C>A
c.2650C>A (p.Gln884Lys)
c.2716C>A (p.Gln906Lys)
c.2668C>A (p.Gln890Lys)
c.2533C>A (p.Gln845Lys)
16g.28835585C>GCA395408068ATXN2Lc.2722C>G (p.Gln908Glu)
c.697C>G (p.Gln233Glu)
n.3096C>G
c.2740C>G (p.Gln914Glu)
c.1786C>G (n.1786C>G)
c.700C>G (p.Gln234Glu)
c.242C>G
c.2743C>G (p.Gln915Glu)
c.2725C>G (p.Gln909Glu)
c.2563C>G (p.Gln855Glu)
c.2671C>G (p.Gln891Glu)
c.2653C>G (p.Gln885Glu)
c.2377C>G (p.Gln793Glu)
n.2952C>G
c.2545C>G (p.Gln849Glu)
c.2359C>G (p.Gln787Glu)
n.2955C>G
c.2650C>G (p.Gln884Glu)
c.2716C>G (p.Gln906Glu)
c.2668C>G (p.Gln890Glu)
c.2533C>G (p.Gln845Glu)
16g.28835585C>TCA395408069ATXN2Lc.2722C>T (p.Gln908Ter)
c.697C>T (p.Gln233Ter)
n.3096C>T
c.2740C>T (p.Gln914Ter)
c.1786C>T (n.1786C>T)
c.700C>T (p.Gln234Ter)
c.242C>T
c.2743C>T (p.Gln915Ter)
c.2725C>T (p.Gln909Ter)
c.2563C>T (p.Gln855Ter)
c.2671C>T (p.Gln891Ter)
c.2653C>T (p.Gln885Ter)
c.2377C>T (p.Gln793Ter)
n.2952C>T
c.2545C>T (p.Gln849Ter)
c.2359C>T (p.Gln787Ter)
n.2955C>T
c.2650C>T (p.Gln884Ter)
c.2716C>T (p.Gln906Ter)
c.2668C>T (p.Gln890Ter)
c.2533C>T (p.Gln845Ter)
16g.28835586A>CCA395408070ATXN2Lc.2723A>C (p.Gln908Pro)
c.698A>C (p.Gln233Pro)
n.3097A>C
c.2741A>C (p.Gln914Pro)
c.1787A>C (n.1787A>C)
c.701A>C (p.Gln234Pro)
c.243A>C
c.2744A>C (p.Gln915Pro)
c.2726A>C (p.Gln909Pro)
c.2564A>C (p.Gln855Pro)
c.2672A>C (p.Gln891Pro)
c.2654A>C (p.Gln885Pro)
c.2378A>C (p.Gln793Pro)
n.2953A>C
c.2546A>C (p.Gln849Pro)
c.2360A>C (p.Gln787Pro)
n.2956A>C
c.2651A>C (p.Gln884Pro)
c.2717A>C (p.Gln906Pro)
c.2669A>C (p.Gln890Pro)
c.2534A>C (p.Gln845Pro)
16g.28835586A>GCA395408072ATXN2Lc.2723A>G (p.Gln908Arg)
c.698A>G (p.Gln233Arg)
n.3097A>G
c.2741A>G (p.Gln914Arg)
c.1787A>G (n.1787A>G)
c.701A>G (p.Gln234Arg)
c.243A>G
c.2744A>G (p.Gln915Arg)
c.2726A>G (p.Gln909Arg)
c.2564A>G (p.Gln855Arg)
c.2672A>G (p.Gln891Arg)
c.2654A>G (p.Gln885Arg)
c.2378A>G (p.Gln793Arg)
n.2953A>G
c.2546A>G (p.Gln849Arg)
c.2360A>G (p.Gln787Arg)
n.2956A>G
c.2651A>G (p.Gln884Arg)
c.2717A>G (p.Gln906Arg)
c.2669A>G (p.Gln890Arg)
c.2534A>G (p.Gln845Arg)
16g.28835586A>TCA395408074ATXN2Lc.2723A>T (p.Gln908Leu)
c.698A>T (p.Gln233Leu)
n.3097A>T
c.2741A>T (p.Gln914Leu)
c.1787A>T (n.1787A>T)
c.701A>T (p.Gln234Leu)
c.243A>T
c.2744A>T (p.Gln915Leu)
c.2726A>T (p.Gln909Leu)
c.2564A>T (p.Gln855Leu)
c.2672A>T (p.Gln891Leu)
c.2654A>T (p.Gln885Leu)
c.2378A>T (p.Gln793Leu)
n.2953A>T
c.2546A>T (p.Gln849Leu)
c.2360A>T (p.Gln787Leu)
n.2956A>T
c.2651A>T (p.Gln884Leu)
c.2717A>T (p.Gln906Leu)
c.2669A>T (p.Gln890Leu)
c.2534A>T (p.Gln845Leu)
16g.28835587G>ACA494868275ATXN2Lc.2724G>A (p.Gln908=)
c.699G>A (p.Gln233=)
n.3098G>A
c.2742G>A (p.Gln914=)
c.1788G>A (n.1788G>A)
c.702G>A (p.Gln234=)
c.244G>A
c.2745G>A (p.Gln915=)
c.2727G>A (p.Gln909=)
c.2565G>A (p.Gln855=)
c.2673G>A (p.Gln891=)
c.2655G>A (p.Gln885=)
c.2379G>A (p.Gln793=)
n.2954G>A
c.2547G>A (p.Gln849=)
c.2361G>A (p.Gln787=)
n.2957G>A
c.2652G>A (p.Gln884=)
c.2718G>A (p.Gln906=)
c.2670G>A (p.Gln890=)
c.2535G>A (p.Gln845=)
16g.28835587G>CCA395408076ATXN2Lc.2724G>C (p.Gln908His)
c.699G>C (p.Gln233His)
n.3098G>C
c.2742G>C (p.Gln914His)
c.1788G>C (n.1788G>C)
c.702G>C (p.Gln234His)
c.244G>C
c.2745G>C (p.Gln915His)
c.2727G>C (p.Gln909His)
c.2565G>C (p.Gln855His)
c.2673G>C (p.Gln891His)
c.2655G>C (p.Gln885His)
c.2379G>C (p.Gln793His)
n.2954G>C
c.2547G>C (p.Gln849His)
c.2361G>C (p.Gln787His)
n.2957G>C
c.2652G>C (p.Gln884His)
c.2718G>C (p.Gln906His)
c.2670G>C (p.Gln890His)
c.2535G>C (p.Gln845His)
16g.28835587G>TCA395408077ATXN2Lc.2724G>T (p.Gln908His)
c.699G>T (p.Gln233His)
n.3098G>T
c.2742G>T (p.Gln914His)
c.1788G>T (n.1788G>T)
c.702G>T (p.Gln234His)
c.244G>T
c.2745G>T (p.Gln915His)
c.2727G>T (p.Gln909His)
c.2565G>T (p.Gln855His)
c.2673G>T (p.Gln891His)
c.2655G>T (p.Gln885His)
c.2379G>T (p.Gln793His)
n.2954G>T
c.2547G>T (p.Gln849His)
c.2361G>T (p.Gln787His)
n.2957G>T
c.2652G>T (p.Gln884His)
c.2718G>T (p.Gln906His)
c.2670G>T (p.Gln890His)
c.2535G>T (p.Gln845His)
16g.28835588C>ACA395408080ATXN2Lc.2725C>A (p.Pro909Thr)
c.700C>A (p.Pro234Thr)
n.3099C>A
c.2743C>A (p.Pro915Thr)
c.1789C>A (n.1789C>A)
c.703C>A (p.Pro235Thr)
c.245C>A
c.2746C>A (p.Pro916Thr)
c.2728C>A (p.Pro910Thr)
c.2566C>A (p.Pro856Thr)
c.2674C>A (p.Pro892Thr)
c.2656C>A (p.Pro886Thr)
c.2380C>A (p.Pro794Thr)
n.2955C>A
c.2548C>A (p.Pro850Thr)
c.2362C>A (p.Pro788Thr)
n.2958C>A
c.2653C>A (p.Pro885Thr)
c.2719C>A (p.Pro907Thr)
c.2671C>A (p.Pro891Thr)
c.2536C>A (p.Pro846Thr)
16g.28835588C>GCA395408084ATXN2Lc.2725C>G (p.Pro909Ala)
c.700C>G (p.Pro234Ala)
n.3099C>G
c.2743C>G (p.Pro915Ala)
c.1789C>G (n.1789C>G)
c.703C>G (p.Pro235Ala)
c.245C>G
c.2746C>G (p.Pro916Ala)
c.2728C>G (p.Pro910Ala)
c.2566C>G (p.Pro856Ala)
c.2674C>G (p.Pro892Ala)
c.2656C>G (p.Pro886Ala)
c.2380C>G (p.Pro794Ala)
n.2955C>G
c.2548C>G (p.Pro850Ala)
c.2362C>G (p.Pro788Ala)
n.2958C>G
c.2653C>G (p.Pro885Ala)
c.2719C>G (p.Pro907Ala)
c.2671C>G (p.Pro891Ala)
c.2536C>G (p.Pro846Ala)
16g.28835588C>TCA395408082ATXN2Lc.2725C>T (p.Pro909Ser)
c.700C>T (p.Pro234Ser)
n.3099C>T
c.2743C>T (p.Pro915Ser)
c.1789C>T (n.1789C>T)
c.703C>T (p.Pro235Ser)
c.245C>T
c.2746C>T (p.Pro916Ser)
c.2728C>T (p.Pro910Ser)
c.2566C>T (p.Pro856Ser)
c.2674C>T (p.Pro892Ser)
c.2656C>T (p.Pro886Ser)
c.2380C>T (p.Pro794Ser)
n.2955C>T
c.2548C>T (p.Pro850Ser)
c.2362C>T (p.Pro788Ser)
n.2958C>T
c.2653C>T (p.Pro885Ser)
c.2719C>T (p.Pro907Ser)
c.2671C>T (p.Pro891Ser)
c.2536C>T (p.Pro846Ser)
16g.28835589C>ACA395408086ATXN2Lc.2726C>A (p.Pro909Gln)
c.701C>A (p.Pro234Gln)
n.3100C>A
c.2744C>A (p.Pro915Gln)
c.1790C>A (n.1790C>A)
c.704C>A (p.Pro235Gln)
c.246C>A
c.2747C>A (p.Pro916Gln)
c.2729C>A (p.Pro910Gln)
c.2567C>A (p.Pro856Gln)
c.2675C>A (p.Pro892Gln)
c.2657C>A (p.Pro886Gln)
c.2381C>A (p.Pro794Gln)
n.2956C>A
c.2549C>A (p.Pro850Gln)
c.2363C>A (p.Pro788Gln)
n.2959C>A
c.2654C>A (p.Pro885Gln)
c.2720C>A (p.Pro907Gln)
c.2672C>A (p.Pro891Gln)
c.2537C>A (p.Pro846Gln)
16g.28835589C>GCA395408090ATXN2Lc.2726C>G (p.Pro909Arg)
c.701C>G (p.Pro234Arg)
n.3100C>G
c.2744C>G (p.Pro915Arg)
c.1790C>G (n.1790C>G)
c.704C>G (p.Pro235Arg)
c.246C>G
c.2747C>G (p.Pro916Arg)
c.2729C>G (p.Pro910Arg)
c.2567C>G (p.Pro856Arg)
c.2675C>G (p.Pro892Arg)
c.2657C>G (p.Pro886Arg)
c.2381C>G (p.Pro794Arg)
n.2956C>G
c.2549C>G (p.Pro850Arg)
c.2363C>G (p.Pro788Arg)
n.2959C>G
c.2654C>G (p.Pro885Arg)
c.2720C>G (p.Pro907Arg)
c.2672C>G (p.Pro891Arg)
c.2537C>G (p.Pro846Arg)
16g.28835589C>TCA395408088ATXN2Lc.2726C>T (p.Pro909Leu)
c.701C>T (p.Pro234Leu)
n.3100C>T
c.2744C>T (p.Pro915Leu)
c.1790C>T (n.1790C>T)
c.704C>T (p.Pro235Leu)
c.246C>T
c.2747C>T (p.Pro916Leu)
c.2729C>T (p.Pro910Leu)
c.2567C>T (p.Pro856Leu)
c.2675C>T (p.Pro892Leu)
c.2657C>T (p.Pro886Leu)
c.2381C>T (p.Pro794Leu)
n.2956C>T
c.2549C>T (p.Pro850Leu)
c.2363C>T (p.Pro788Leu)
n.2959C>T
c.2654C>T (p.Pro885Leu)
c.2720C>T (p.Pro907Leu)
c.2672C>T (p.Pro891Leu)
c.2537C>T (p.Pro846Leu)
16g.28835590A=CA2215806296ATXN2Lc.2727A= (p.Pro909=)
c.702A= (p.Pro234=)
n.3101A=
c.2745A= (p.Pro915=)
c.1791A= (n.1791A=)
c.705A= (p.Pro235=)
c.247A=
c.2748A= (p.Pro916=)
c.2730A= (p.Pro910=)
c.2568A= (p.Pro856=)
c.2676A= (p.Pro892=)
c.2658A= (p.Pro886=)
c.2382A= (p.Pro794=)
n.2957A=
c.2550A= (p.Pro850=)
c.2364A= (p.Pro788=)
n.2960A=
c.2655A= (p.Pro885=)
c.2721A= (p.Pro907=)
c.2673A= (p.Pro891=)
c.2538A= (p.Pro846=)
16g.28835590A>CCA494868276ATXN2Lc.2727A>C (p.Pro909=)
c.702A>C (p.Pro234=)
n.3101A>C
c.2745A>C (p.Pro915=)
c.1791A>C (n.1791A>C)
c.705A>C (p.Pro235=)
c.247A>C
c.2748A>C (p.Pro916=)
c.2730A>C (p.Pro910=)
c.2568A>C (p.Pro856=)
c.2676A>C (p.Pro892=)
c.2658A>C (p.Pro886=)
c.2382A>C (p.Pro794=)
n.2957A>C
c.2550A>C (p.Pro850=)
c.2364A>C (p.Pro788=)
n.2960A>C
c.2655A>C (p.Pro885=)
c.2721A>C (p.Pro907=)
c.2673A>C (p.Pro891=)
c.2538A>C (p.Pro846=)
16g.28835590A>GCA7985082ATXN2Lc.2727A>G (p.Pro909=)
c.702A>G (p.Pro234=)
n.3101A>G
c.2745A>G (p.Pro915=)
c.1791A>G (n.1791A>G)
c.705A>G (p.Pro235=)
c.247A>G
c.2748A>G (p.Pro916=)
c.2730A>G (p.Pro910=)
c.2568A>G (p.Pro856=)
c.2676A>G (p.Pro892=)
c.2658A>G (p.Pro886=)
c.2382A>G (p.Pro794=)
n.2957A>G
c.2550A>G (p.Pro850=)
c.2364A>G (p.Pro788=)
n.2960A>G
c.2655A>G (p.Pro885=)
c.2721A>G (p.Pro907=)
c.2673A>G (p.Pro891=)
c.2538A>G (p.Pro846=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835590A>TCA494868278ATXN2Lc.2727A>T (p.Pro909=)
c.702A>T (p.Pro234=)
n.3101A>T
c.2745A>T (p.Pro915=)
c.1791A>T (n.1791A>T)
c.705A>T (p.Pro235=)
c.247A>T
c.2748A>T (p.Pro916=)
c.2730A>T (p.Pro910=)
c.2568A>T (p.Pro856=)
c.2676A>T (p.Pro892=)
c.2658A>T (p.Pro886=)
c.2382A>T (p.Pro794=)
n.2957A>T
c.2550A>T (p.Pro850=)
c.2364A>T (p.Pro788=)
n.2960A>T
c.2655A>T (p.Pro885=)
c.2721A>T (p.Pro907=)
c.2673A>T (p.Pro891=)
c.2538A>T (p.Pro846=)
16g.28835591C>ACA395408095ATXN2Lc.2728C>A (p.Gln910Lys)
c.703C>A (p.Gln235Lys)
n.3102C>A
c.2746C>A (p.Gln916Lys)
c.1792C>A (n.1792C>A)
c.706C>A (p.Gln236Lys)
c.248C>A
c.2749C>A (p.Gln917Lys)
c.2731C>A (p.Gln911Lys)
c.2569C>A (p.Gln857Lys)
c.2677C>A (p.Gln893Lys)
c.2659C>A (p.Gln887Lys)
c.2383C>A (p.Gln795Lys)
n.2958C>A
c.2551C>A (p.Gln851Lys)
c.2365C>A (p.Gln789Lys)
n.2961C>A
c.2656C>A (p.Gln886Lys)
c.2722C>A (p.Gln908Lys)
c.2674C>A (p.Gln892Lys)
c.2539C>A (p.Gln847Lys)
16g.28835591C>GCA395408093ATXN2Lc.2728C>G (p.Gln910Glu)
c.703C>G (p.Gln235Glu)
n.3102C>G
c.2746C>G (p.Gln916Glu)
c.1792C>G (n.1792C>G)
c.706C>G (p.Gln236Glu)
c.248C>G
c.2749C>G (p.Gln917Glu)
c.2731C>G (p.Gln911Glu)
c.2569C>G (p.Gln857Glu)
c.2677C>G (p.Gln893Glu)
c.2659C>G (p.Gln887Glu)
c.2383C>G (p.Gln795Glu)
n.2958C>G
c.2551C>G (p.Gln851Glu)
c.2365C>G (p.Gln789Glu)
n.2961C>G
c.2656C>G (p.Gln886Glu)
c.2722C>G (p.Gln908Glu)
c.2674C>G (p.Gln892Glu)
c.2539C>G (p.Gln847Glu)
16g.28835591C>TCA395408097ATXN2Lc.2728C>T (p.Gln910Ter)
c.703C>T (p.Gln235Ter)
n.3102C>T
c.2746C>T (p.Gln916Ter)
c.1792C>T (n.1792C>T)
c.706C>T (p.Gln236Ter)
c.248C>T
c.2749C>T (p.Gln917Ter)
c.2731C>T (p.Gln911Ter)
c.2569C>T (p.Gln857Ter)
c.2677C>T (p.Gln893Ter)
c.2659C>T (p.Gln887Ter)
c.2383C>T (p.Gln795Ter)
n.2958C>T
c.2551C>T (p.Gln851Ter)
c.2365C>T (p.Gln789Ter)
n.2961C>T
c.2656C>T (p.Gln886Ter)
c.2722C>T (p.Gln908Ter)
c.2674C>T (p.Gln892Ter)
c.2539C>T (p.Gln847Ter)
16g.28835592A>CCA395408099ATXN2Lc.2729A>C (p.Gln910Pro)
c.704A>C (p.Gln235Pro)
n.3103A>C
c.2747A>C (p.Gln916Pro)
c.1793A>C (n.1793A>C)
c.707A>C (p.Gln236Pro)
c.249A>C
c.2750A>C (p.Gln917Pro)
c.2732A>C (p.Gln911Pro)
c.2570A>C (p.Gln857Pro)
c.2678A>C (p.Gln893Pro)
c.2660A>C (p.Gln887Pro)
c.2384A>C (p.Gln795Pro)
n.2959A>C
c.2552A>C (p.Gln851Pro)
c.2366A>C (p.Gln789Pro)
n.2962A>C
c.2657A>C (p.Gln886Pro)
c.2723A>C (p.Gln908Pro)
c.2675A>C (p.Gln892Pro)
c.2540A>C (p.Gln847Pro)
16g.28835592A>GCA395408101ATXN2Lc.2729A>G (p.Gln910Arg)
c.704A>G (p.Gln235Arg)
n.3103A>G
c.2747A>G (p.Gln916Arg)
c.1793A>G (n.1793A>G)
c.707A>G (p.Gln236Arg)
c.249A>G
c.2750A>G (p.Gln917Arg)
c.2732A>G (p.Gln911Arg)
c.2570A>G (p.Gln857Arg)
c.2678A>G (p.Gln893Arg)
c.2660A>G (p.Gln887Arg)
c.2384A>G (p.Gln795Arg)
n.2959A>G
c.2552A>G (p.Gln851Arg)
c.2366A>G (p.Gln789Arg)
n.2962A>G
c.2657A>G (p.Gln886Arg)
c.2723A>G (p.Gln908Arg)
c.2675A>G (p.Gln892Arg)
c.2540A>G (p.Gln847Arg)
16g.28835592A>TCA395408102ATXN2Lc.2729A>T (p.Gln910Leu)
c.704A>T (p.Gln235Leu)
n.3103A>T
c.2747A>T (p.Gln916Leu)
c.1793A>T (n.1793A>T)
c.707A>T (p.Gln236Leu)
c.249A>T
c.2750A>T (p.Gln917Leu)
c.2732A>T (p.Gln911Leu)
c.2570A>T (p.Gln857Leu)
c.2678A>T (p.Gln893Leu)
c.2660A>T (p.Gln887Leu)
c.2384A>T (p.Gln795Leu)
n.2959A>T
c.2552A>T (p.Gln851Leu)
c.2366A>T (p.Gln789Leu)
n.2962A>T
c.2657A>T (p.Gln886Leu)
c.2723A>T (p.Gln908Leu)
c.2675A>T (p.Gln892Leu)
c.2540A>T (p.Gln847Leu)
16g.28835593G>ACA494868341ATXN2Lc.2730G>A (p.Gln910=)
c.705G>A (p.Gln235=)
n.3104G>A
c.2748G>A (p.Gln916=)
c.1794G>A (n.1794G>A)
c.708G>A (p.Gln236=)
c.250G>A
c.2751G>A (p.Gln917=)
c.2733G>A (p.Gln911=)
c.2571G>A (p.Gln857=)
c.2679G>A (p.Gln893=)
c.2661G>A (p.Gln887=)
c.2385G>A (p.Gln795=)
n.2960G>A
c.2553G>A (p.Gln851=)
c.2367G>A (p.Gln789=)
n.2963G>A
c.2658G>A (p.Gln886=)
c.2724G>A (p.Gln908=)
c.2676G>A (p.Gln892=)
c.2541G>A (p.Gln847=)
16g.28835593G>CCA395408104ATXN2Lc.2730G>C (p.Gln910His)
c.705G>C (p.Gln235His)
n.3104G>C
c.2748G>C (p.Gln916His)
c.1794G>C (n.1794G>C)
c.708G>C (p.Gln236His)
c.250G>C
c.2751G>C (p.Gln917His)
c.2733G>C (p.Gln911His)
c.2571G>C (p.Gln857His)
c.2679G>C (p.Gln893His)
c.2661G>C (p.Gln887His)
c.2385G>C (p.Gln795His)
n.2960G>C
c.2553G>C (p.Gln851His)
c.2367G>C (p.Gln789His)
n.2963G>C
c.2658G>C (p.Gln886His)
c.2724G>C (p.Gln908His)
c.2676G>C (p.Gln892His)
c.2541G>C (p.Gln847His)
16g.28835593G>TCA395408106ATXN2Lc.2730G>T (p.Gln910His)
c.705G>T (p.Gln235His)
n.3104G>T
c.2748G>T (p.Gln916His)
c.1794G>T (n.1794G>T)
c.708G>T (p.Gln236His)
c.250G>T
c.2751G>T (p.Gln917His)
c.2733G>T (p.Gln911His)
c.2571G>T (p.Gln857His)
c.2679G>T (p.Gln893His)
c.2661G>T (p.Gln887His)
c.2385G>T (p.Gln795His)
n.2960G>T
c.2553G>T (p.Gln851His)
c.2367G>T (p.Gln789His)
n.2963G>T
c.2658G>T (p.Gln886His)
c.2724G>T (p.Gln908His)
c.2676G>T (p.Gln892His)
c.2541G>T (p.Gln847His)
16g.28835594C>ACA395408109ATXN2Lc.2731C>A (p.Gln911Lys)
c.706C>A (p.Gln236Lys)
n.3105C>A
c.2749C>A (p.Gln917Lys)
c.1795C>A (n.1795C>A)
c.709C>A (p.Gln237Lys)
c.251C>A
c.2752C>A (p.Gln918Lys)
c.2734C>A (p.Gln912Lys)
c.2572C>A (p.Gln858Lys)
c.2680C>A (p.Gln894Lys)
c.2662C>A (p.Gln888Lys)
c.2386C>A (p.Gln796Lys)
n.2961C>A
c.2554C>A (p.Gln852Lys)
c.2368C>A (p.Gln790Lys)
n.2964C>A
c.2659C>A (p.Gln887Lys)
c.2725C>A (p.Gln909Lys)
c.2677C>A (p.Gln893Lys)
c.2542C>A (p.Gln848Lys)
16g.28835594C>GCA395408110ATXN2Lc.2731C>G (p.Gln911Glu)
c.706C>G (p.Gln236Glu)
n.3105C>G
c.2749C>G (p.Gln917Glu)
c.1795C>G (n.1795C>G)
c.709C>G (p.Gln237Glu)
c.251C>G
c.2752C>G (p.Gln918Glu)
c.2734C>G (p.Gln912Glu)
c.2572C>G (p.Gln858Glu)
c.2680C>G (p.Gln894Glu)
c.2662C>G (p.Gln888Glu)
c.2386C>G (p.Gln796Glu)
n.2961C>G
c.2554C>G (p.Gln852Glu)
c.2368C>G (p.Gln790Glu)
n.2964C>G
c.2659C>G (p.Gln887Glu)
c.2725C>G (p.Gln909Glu)
c.2677C>G (p.Gln893Glu)
c.2542C>G (p.Gln848Glu)
16g.28835594C>TCA395408111ATXN2Lc.2731C>T (p.Gln911Ter)
c.706C>T (p.Gln236Ter)
n.3105C>T
c.2749C>T (p.Gln917Ter)
c.1795C>T (n.1795C>T)
c.709C>T (p.Gln237Ter)
c.251C>T
c.2752C>T (p.Gln918Ter)
c.2734C>T (p.Gln912Ter)
c.2572C>T (p.Gln858Ter)
c.2680C>T (p.Gln894Ter)
c.2662C>T (p.Gln888Ter)
c.2386C>T (p.Gln796Ter)
n.2961C>T
c.2554C>T (p.Gln852Ter)
c.2368C>T (p.Gln790Ter)
n.2964C>T
c.2659C>T (p.Gln887Ter)
c.2725C>T (p.Gln909Ter)
c.2677C>T (p.Gln893Ter)
c.2542C>T (p.Gln848Ter)
16g.28835595A>CCA395408114ATXN2Lc.2732A>C (p.Gln911Pro)
c.707A>C (p.Gln236Pro)
n.3106A>C
c.2750A>C (p.Gln917Pro)
c.1796A>C (n.1796A>C)
c.1A>C
c.710A>C (p.Gln237Pro)
c.252A>C
c.2753A>C (p.Gln918Pro)
c.2735A>C (p.Gln912Pro)
c.2573A>C (p.Gln858Pro)
c.2681A>C (p.Gln894Pro)
c.2663A>C (p.Gln888Pro)
c.2387A>C (p.Gln796Pro)
n.2962A>C
c.2555A>C (p.Gln852Pro)
c.2369A>C (p.Gln790Pro)
n.2965A>C
c.2660A>C (p.Gln887Pro)
c.2726A>C (p.Gln909Pro)
c.2678A>C (p.Gln893Pro)
c.2543A>C (p.Gln848Pro)
16g.28835595A>GCA395408115ATXN2Lc.2732A>G (p.Gln911Arg)
c.707A>G (p.Gln236Arg)
n.3106A>G
c.2750A>G (p.Gln917Arg)
c.1796A>G (n.1796A>G)
c.1A>G
c.710A>G (p.Gln237Arg)
c.252A>G
c.2753A>G (p.Gln918Arg)
c.2735A>G (p.Gln912Arg)
c.2573A>G (p.Gln858Arg)
c.2681A>G (p.Gln894Arg)
c.2663A>G (p.Gln888Arg)
c.2387A>G (p.Gln796Arg)
n.2962A>G
c.2555A>G (p.Gln852Arg)
c.2369A>G (p.Gln790Arg)
n.2965A>G
c.2660A>G (p.Gln887Arg)
c.2726A>G (p.Gln909Arg)
c.2678A>G (p.Gln893Arg)
c.2543A>G (p.Gln848Arg)
16g.28835595A>TCA395408117ATXN2Lc.2732A>T (p.Gln911Leu)
c.707A>T (p.Gln236Leu)
n.3106A>T
c.2750A>T (p.Gln917Leu)
c.1796A>T (n.1796A>T)
c.1A>T
c.710A>T (p.Gln237Leu)
c.252A>T
c.2753A>T (p.Gln918Leu)
c.2735A>T (p.Gln912Leu)
c.2573A>T (p.Gln858Leu)
c.2681A>T (p.Gln894Leu)
c.2663A>T (p.Gln888Leu)
c.2387A>T (p.Gln796Leu)
n.2962A>T
c.2555A>T (p.Gln852Leu)
c.2369A>T (p.Gln790Leu)
n.2965A>T
c.2660A>T (p.Gln887Leu)
c.2726A>T (p.Gln909Leu)
c.2678A>T (p.Gln893Leu)
c.2543A>T (p.Gln848Leu)
16g.28835596G>ACA494868371ATXN2Lc.2733G>A (p.Gln911=)
c.708G>A (p.Gln236=)
n.3107G>A
c.2751G>A (p.Gln917=)
c.1797G>A (n.1797G>A)
c.2G>A
c.711G>A (p.Gln237=)
c.253G>A
c.2754G>A (p.Gln918=)
c.2736G>A (p.Gln912=)
c.2574G>A (p.Gln858=)
c.2682G>A (p.Gln894=)
c.2664G>A (p.Gln888=)
c.2388G>A (p.Gln796=)
n.2963G>A
c.2556G>A (p.Gln852=)
c.2370G>A (p.Gln790=)
n.2966G>A
c.2661G>A (p.Gln887=)
c.2727G>A (p.Gln909=)
c.2679G>A (p.Gln893=)
c.2544G>A (p.Gln848=)
16g.28835596G>CCA395408119ATXN2Lc.2733G>C (p.Gln911His)
c.708G>C (p.Gln236His)
n.3107G>C
c.2751G>C (p.Gln917His)
c.1797G>C (n.1797G>C)
c.2G>C
c.711G>C (p.Gln237His)
c.253G>C
c.2754G>C (p.Gln918His)
c.2736G>C (p.Gln912His)
c.2574G>C (p.Gln858His)
c.2682G>C (p.Gln894His)
c.2664G>C (p.Gln888His)
c.2388G>C (p.Gln796His)
n.2963G>C
c.2556G>C (p.Gln852His)
c.2370G>C (p.Gln790His)
n.2966G>C
c.2661G>C (p.Gln887His)
c.2727G>C (p.Gln909His)
c.2679G>C (p.Gln893His)
c.2544G>C (p.Gln848His)
16g.28835596G>TCA395408120ATXN2Lc.2733G>T (p.Gln911His)
c.708G>T (p.Gln236His)
n.3107G>T
c.2751G>T (p.Gln917His)
c.1797G>T (n.1797G>T)
c.2G>T
c.711G>T (p.Gln237His)
c.253G>T
c.2754G>T (p.Gln918His)
c.2736G>T (p.Gln912His)
c.2574G>T (p.Gln858His)
c.2682G>T (p.Gln894His)
c.2664G>T (p.Gln888His)
c.2388G>T (p.Gln796His)
n.2963G>T
c.2556G>T (p.Gln852His)
c.2370G>T (p.Gln790His)
n.2966G>T
c.2661G>T (p.Gln887His)
c.2727G>T (p.Gln909His)
c.2679G>T (p.Gln893His)
c.2544G>T (p.Gln848His)
16g.28835597A=CA2215806302ATXN2Lc.2734A= (p.Asn912=)
c.709A= (p.Asn237=)
n.3108A=
c.2752A= (p.Asn918=)
c.1798A= (n.1798A=)
c.3A=
c.712A= (p.Asn238=)
c.254A=
c.2755A= (p.Asn919=)
c.2737A= (p.Asn913=)
c.2575A= (p.Asn859=)
c.2683A= (p.Asn895=)
c.2665A= (p.Asn889=)
c.2389A= (p.Asn797=)
n.2964A=
c.2557A= (p.Asn853=)
c.2371A= (p.Asn791=)
n.2967A=
c.2662A= (p.Asn888=)
c.2728A= (p.Asn910=)
c.2680A= (p.Asn894=)
c.2545A= (p.Asn849=)
16g.28835597A>CCA395408122ATXN2Lc.2734A>C (p.Asn912His)
c.709A>C (p.Asn237His)
n.3108A>C
c.2752A>C (p.Asn918His)
c.1798A>C (n.1798A>C)
c.3A>C
c.712A>C (p.Asn238His)
c.254A>C
c.2755A>C (p.Asn919His)
c.2737A>C (p.Asn913His)
c.2575A>C (p.Asn859His)
c.2683A>C (p.Asn895His)
c.2665A>C (p.Asn889His)
c.2389A>C (p.Asn797His)
n.2964A>C
c.2557A>C (p.Asn853His)
c.2371A>C (p.Asn791His)
n.2967A>C
c.2662A>C (p.Asn888His)
c.2728A>C (p.Asn910His)
c.2680A>C (p.Asn894His)
c.2545A>C (p.Asn849His)
 dbSNP gnomAD v2 gnomAD v4
16g.28835597A>GCA395408126ATXN2Lc.2734A>G (p.Asn912Asp)
c.709A>G (p.Asn237Asp)
n.3108A>G
c.2752A>G (p.Asn918Asp)
c.1798A>G (n.1798A>G)
c.3A>G
c.712A>G (p.Asn238Asp)
c.254A>G
c.2755A>G (p.Asn919Asp)
c.2737A>G (p.Asn913Asp)
c.2575A>G (p.Asn859Asp)
c.2683A>G (p.Asn895Asp)
c.2665A>G (p.Asn889Asp)
c.2389A>G (p.Asn797Asp)
n.2964A>G
c.2557A>G (p.Asn853Asp)
c.2371A>G (p.Asn791Asp)
n.2967A>G
c.2662A>G (p.Asn888Asp)
c.2728A>G (p.Asn910Asp)
c.2680A>G (p.Asn894Asp)
c.2545A>G (p.Asn849Asp)
16g.28835597A>TCA395408124ATXN2Lc.2734A>T (p.Asn912Tyr)
c.709A>T (p.Asn237Tyr)
n.3108A>T
c.2752A>T (p.Asn918Tyr)
c.1798A>T (n.1798A>T)
c.3A>T
c.712A>T (p.Asn238Tyr)
c.254A>T
c.2755A>T (p.Asn919Tyr)
c.2737A>T (p.Asn913Tyr)
c.2575A>T (p.Asn859Tyr)
c.2683A>T (p.Asn895Tyr)
c.2665A>T (p.Asn889Tyr)
c.2389A>T (p.Asn797Tyr)
n.2964A>T
c.2557A>T (p.Asn853Tyr)
c.2371A>T (p.Asn791Tyr)
n.2967A>T
c.2662A>T (p.Asn888Tyr)
c.2728A>T (p.Asn910Tyr)
c.2680A>T (p.Asn894Tyr)
c.2545A>T (p.Asn849Tyr)
16g.28835598A>CCA395408128ATXN2Lc.2735A>C (p.Asn912Thr)
c.710A>C (p.Asn237Thr)
n.3109A>C
c.2753A>C (p.Asn918Thr)
c.1799A>C (n.1799A>C)
c.4A>C
c.713A>C (p.Asn238Thr)
c.255A>C
c.2756A>C (p.Asn919Thr)
c.2738A>C (p.Asn913Thr)
c.2576A>C (p.Asn859Thr)
c.2684A>C (p.Asn895Thr)
c.2666A>C (p.Asn889Thr)
c.2390A>C (p.Asn797Thr)
n.2965A>C
c.2558A>C (p.Asn853Thr)
c.2372A>C (p.Asn791Thr)
n.2968A>C
c.2663A>C (p.Asn888Thr)
c.2729A>C (p.Asn910Thr)
c.2681A>C (p.Asn894Thr)
c.2546A>C (p.Asn849Thr)
16g.28835598A>GCA395408130ATXN2Lc.2735A>G (p.Asn912Ser)
c.710A>G (p.Asn237Ser)
n.3109A>G
c.2753A>G (p.Asn918Ser)
c.1799A>G (n.1799A>G)
c.4A>G
c.713A>G (p.Asn238Ser)
c.255A>G
c.2756A>G (p.Asn919Ser)
c.2738A>G (p.Asn913Ser)
c.2576A>G (p.Asn859Ser)
c.2684A>G (p.Asn895Ser)
c.2666A>G (p.Asn889Ser)
c.2390A>G (p.Asn797Ser)
n.2965A>G
c.2558A>G (p.Asn853Ser)
c.2372A>G (p.Asn791Ser)
n.2968A>G
c.2663A>G (p.Asn888Ser)
c.2729A>G (p.Asn910Ser)
c.2681A>G (p.Asn894Ser)
c.2546A>G (p.Asn849Ser)
 gnomAD v4
16g.28835598A>TCA395408131ATXN2Lc.2735A>T (p.Asn912Ile)
c.710A>T (p.Asn237Ile)
n.3109A>T
c.2753A>T (p.Asn918Ile)
c.1799A>T (n.1799A>T)
c.4A>T
c.713A>T (p.Asn238Ile)
c.255A>T
c.2756A>T (p.Asn919Ile)
c.2738A>T (p.Asn913Ile)
c.2576A>T (p.Asn859Ile)
c.2684A>T (p.Asn895Ile)
c.2666A>T (p.Asn889Ile)
c.2390A>T (p.Asn797Ile)
n.2965A>T
c.2558A>T (p.Asn853Ile)
c.2372A>T (p.Asn791Ile)
n.2968A>T
c.2663A>T (p.Asn888Ile)
c.2729A>T (p.Asn910Ile)
c.2681A>T (p.Asn894Ile)
c.2546A>T (p.Asn849Ile)
16g.28835599T>ACA395408132ATXN2Lc.2736T>A (p.Asn912Lys)
c.711T>A (p.Asn237Lys)
n.3110T>A
c.2754T>A (p.Asn918Lys)
c.1800T>A (n.1800T>A)
c.5T>A
c.714T>A (p.Asn238Lys)
c.256T>A
c.2757T>A (p.Asn919Lys)
c.2739T>A (p.Asn913Lys)
c.2577T>A (p.Asn859Lys)
c.2685T>A (p.Asn895Lys)
c.2667T>A (p.Asn889Lys)
c.2391T>A (p.Asn797Lys)
n.2966T>A
c.2559T>A (p.Asn853Lys)
c.2373T>A (p.Asn791Lys)
n.2969T>A
c.2664T>A (p.Asn888Lys)
c.2730T>A (p.Asn910Lys)
c.2682T>A (p.Asn894Lys)
c.2547T>A (p.Asn849Lys)
 gnomAD v4
16g.28835599T>CCA494868395ATXN2Lc.2736T>C (p.Asn912=)
c.711T>C (p.Asn237=)
n.3110T>C
c.2754T>C (p.Asn918=)
c.1800T>C (n.1800T>C)
c.5T>C
c.714T>C (p.Asn238=)
c.256T>C
c.2757T>C (p.Asn919=)
c.2739T>C (p.Asn913=)
c.2577T>C (p.Asn859=)
c.2685T>C (p.Asn895=)
c.2667T>C (p.Asn889=)
c.2391T>C (p.Asn797=)
n.2966T>C
c.2559T>C (p.Asn853=)
c.2373T>C (p.Asn791=)
n.2969T>C
c.2664T>C (p.Asn888=)
c.2730T>C (p.Asn910=)
c.2682T>C (p.Asn894=)
c.2547T>C (p.Asn849=)
16g.28835599T>GCA395408133ATXN2Lc.2736T>G (p.Asn912Lys)
c.711T>G (p.Asn237Lys)
n.3110T>G
c.2754T>G (p.Asn918Lys)
c.1800T>G (n.1800T>G)
c.5T>G
c.714T>G (p.Asn238Lys)
c.256T>G
c.2757T>G (p.Asn919Lys)
c.2739T>G (p.Asn913Lys)
c.2577T>G (p.Asn859Lys)
c.2685T>G (p.Asn895Lys)
c.2667T>G (p.Asn889Lys)
c.2391T>G (p.Asn797Lys)
n.2966T>G
c.2559T>G (p.Asn853Lys)
c.2373T>G (p.Asn791Lys)
n.2969T>G
c.2664T>G (p.Asn888Lys)
c.2730T>G (p.Asn910Lys)
c.2682T>G (p.Asn894Lys)
c.2547T>G (p.Asn849Lys)
16g.28835600C>ACA395408136ATXN2Lc.2737C>A (p.Leu913Met)
c.712C>A (p.Leu238Met)
n.3111C>A
c.2755C>A (p.Leu919Met)
c.1801C>A (n.1801C>A)
c.6C>A
c.715C>A (p.Leu239Met)
c.257C>A
c.2758C>A (p.Leu920Met)
c.2740C>A (p.Leu914Met)
c.2578C>A (p.Leu860Met)
c.2686C>A (p.Leu896Met)
c.2668C>A (p.Leu890Met)
c.2392C>A (p.Leu798Met)
n.2967C>A
c.2560C>A (p.Leu854Met)
c.2374C>A (p.Leu792Met)
n.2970C>A
c.2665C>A (p.Leu889Met)
c.2731C>A (p.Leu911Met)
c.2683C>A (p.Leu895Met)
c.2548C>A (p.Leu850Met)
16g.28835600C=CA2215806303ATXN2Lc.2737C= (p.Leu913=)
c.712C= (p.Leu238=)
n.3111C=
c.2755C= (p.Leu919=)
c.1801C= (n.1801C=)
c.6C=
c.715C= (p.Leu239=)
c.257C=
c.2758C= (p.Leu920=)
c.2740C= (p.Leu914=)
c.2578C= (p.Leu860=)
c.2686C= (p.Leu896=)
c.2668C= (p.Leu890=)
c.2392C= (p.Leu798=)
n.2967C=
c.2560C= (p.Leu854=)
c.2374C= (p.Leu792=)
n.2970C=
c.2665C= (p.Leu889=)
c.2731C= (p.Leu911=)
c.2683C= (p.Leu895=)
c.2548C= (p.Leu850=)
16g.28835600C>GCA395408137ATXN2Lc.2737C>G (p.Leu913Val)
c.712C>G (p.Leu238Val)
n.3111C>G
c.2755C>G (p.Leu919Val)
c.1801C>G (n.1801C>G)
c.6C>G
c.715C>G (p.Leu239Val)
c.257C>G
c.2758C>G (p.Leu920Val)
c.2740C>G (p.Leu914Val)
c.2578C>G (p.Leu860Val)
c.2686C>G (p.Leu896Val)
c.2668C>G (p.Leu890Val)
c.2392C>G (p.Leu798Val)
n.2967C>G
c.2560C>G (p.Leu854Val)
c.2374C>G (p.Leu792Val)
n.2970C>G
c.2665C>G (p.Leu889Val)
c.2731C>G (p.Leu911Val)
c.2683C>G (p.Leu895Val)
c.2548C>G (p.Leu850Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835600C>TCA494868400ATXN2Lc.2737C>T (p.Leu913=)
c.712C>T (p.Leu238=)
n.3111C>T
c.2755C>T (p.Leu919=)
c.1801C>T (n.1801C>T)
c.6C>T
c.715C>T (p.Leu239=)
c.257C>T
c.2758C>T (p.Leu920=)
c.2740C>T (p.Leu914=)
c.2578C>T (p.Leu860=)
c.2686C>T (p.Leu896=)
c.2668C>T (p.Leu890=)
c.2392C>T (p.Leu798=)
n.2967C>T
c.2560C>T (p.Leu854=)
c.2374C>T (p.Leu792=)
n.2970C>T
c.2665C>T (p.Leu889=)
c.2731C>T (p.Leu911=)
c.2683C>T (p.Leu895=)
c.2548C>T (p.Leu850=)
16g.28835601T>ACA395408139ATXN2Lc.2738T>A (p.Leu913Gln)
c.713T>A (p.Leu238Gln)
n.3112T>A
c.2756T>A (p.Leu919Gln)
c.1802T>A (n.1802T>A)
c.7T>A
c.716T>A (p.Leu239Gln)
c.258T>A
c.2759T>A (p.Leu920Gln)
c.2741T>A (p.Leu914Gln)
c.2579T>A (p.Leu860Gln)
c.2687T>A (p.Leu896Gln)
c.2669T>A (p.Leu890Gln)
c.2393T>A (p.Leu798Gln)
n.2968T>A
c.2561T>A (p.Leu854Gln)
c.2375T>A (p.Leu792Gln)
n.2971T>A
c.2666T>A (p.Leu889Gln)
c.2732T>A (p.Leu911Gln)
c.2684T>A (p.Leu895Gln)
c.2549T>A (p.Leu850Gln)
16g.28835601T>CCA395408141ATXN2Lc.2738T>C (p.Leu913Pro)
c.713T>C (p.Leu238Pro)
n.3112T>C
c.2756T>C (p.Leu919Pro)
c.1802T>C (n.1802T>C)
c.7T>C
c.716T>C (p.Leu239Pro)
c.258T>C
c.2759T>C (p.Leu920Pro)
c.2741T>C (p.Leu914Pro)
c.2579T>C (p.Leu860Pro)
c.2687T>C (p.Leu896Pro)
c.2669T>C (p.Leu890Pro)
c.2393T>C (p.Leu798Pro)
n.2968T>C
c.2561T>C (p.Leu854Pro)
c.2375T>C (p.Leu792Pro)
n.2971T>C
c.2666T>C (p.Leu889Pro)
c.2732T>C (p.Leu911Pro)
c.2684T>C (p.Leu895Pro)
c.2549T>C (p.Leu850Pro)
16g.28835601T>GCA395408143ATXN2Lc.2738T>G (p.Leu913Arg)
c.713T>G (p.Leu238Arg)
n.3112T>G
c.2756T>G (p.Leu919Arg)
c.1802T>G (n.1802T>G)
c.7T>G
c.716T>G (p.Leu239Arg)
c.258T>G
c.2759T>G (p.Leu920Arg)
c.2741T>G (p.Leu914Arg)
c.2579T>G (p.Leu860Arg)
c.2687T>G (p.Leu896Arg)
c.2669T>G (p.Leu890Arg)
c.2393T>G (p.Leu798Arg)
n.2968T>G
c.2561T>G (p.Leu854Arg)
c.2375T>G (p.Leu792Arg)
n.2971T>G
c.2666T>G (p.Leu889Arg)
c.2732T>G (p.Leu911Arg)
c.2684T>G (p.Leu895Arg)
c.2549T>G (p.Leu850Arg)
16g.28835602G>ACA494868407ATXN2Lc.2739G>A (p.Leu913=)
c.714G>A (p.Leu238=)
n.3113G>A
c.2757G>A (p.Leu919=)
c.1803G>A (n.1803G>A)
c.8G>A
c.717G>A (p.Leu239=)
c.259G>A
c.2760G>A (p.Leu920=)
c.2742G>A (p.Leu914=)
c.2580G>A (p.Leu860=)
c.2688G>A (p.Leu896=)
c.2670G>A (p.Leu890=)
c.2394G>A (p.Leu798=)
n.2969G>A
c.2562G>A (p.Leu854=)
c.2376G>A (p.Leu792=)
n.2972G>A
c.2667G>A (p.Leu889=)
c.2733G>A (p.Leu911=)
c.2685G>A (p.Leu895=)
c.2550G>A (p.Leu850=)
16g.28835602G>CCA494868408ATXN2Lc.2739G>C (p.Leu913=)
c.714G>C (p.Leu238=)
n.3113G>C
c.2757G>C (p.Leu919=)
c.1803G>C (n.1803G>C)
c.8G>C
c.717G>C (p.Leu239=)
c.259G>C
c.2760G>C (p.Leu920=)
c.2742G>C (p.Leu914=)
c.2580G>C (p.Leu860=)
c.2688G>C (p.Leu896=)
c.2670G>C (p.Leu890=)
c.2394G>C (p.Leu798=)
n.2969G>C
c.2562G>C (p.Leu854=)
c.2376G>C (p.Leu792=)
n.2972G>C
c.2667G>C (p.Leu889=)
c.2733G>C (p.Leu911=)
c.2685G>C (p.Leu895=)
c.2550G>C (p.Leu850=)
16g.28835602G>TCA494868409ATXN2Lc.2739G>T (p.Leu913=)
c.714G>T (p.Leu238=)
n.3113G>T
c.2757G>T (p.Leu919=)
c.1803G>T (n.1803G>T)
c.8G>T
c.717G>T (p.Leu239=)
c.259G>T
c.2760G>T (p.Leu920=)
c.2742G>T (p.Leu914=)
c.2580G>T (p.Leu860=)
c.2688G>T (p.Leu896=)
c.2670G>T (p.Leu890=)
c.2394G>T (p.Leu798=)
n.2969G>T
c.2562G>T (p.Leu854=)
c.2376G>T (p.Leu792=)
n.2972G>T
c.2667G>T (p.Leu889=)
c.2733G>T (p.Leu911=)
c.2685G>T (p.Leu895=)
c.2550G>T (p.Leu850=)
16g.28835603T>ACA395408147ATXN2Lc.2740T>A (p.Tyr914Asn)
c.715T>A (p.Tyr239Asn)
n.3114T>A
c.2758T>A (p.Tyr920Asn)
c.1804T>A (n.1804T>A)
c.9T>A
c.718T>A (p.Tyr240Asn)
c.260T>A
c.2761T>A (p.Tyr921Asn)
c.2743T>A (p.Tyr915Asn)
c.2581T>A (p.Tyr861Asn)
c.2689T>A (p.Tyr897Asn)
c.2671T>A (p.Tyr891Asn)
c.2395T>A (p.Tyr799Asn)
n.2970T>A
c.2563T>A (p.Tyr855Asn)
c.2377T>A (p.Tyr793Asn)
n.2973T>A
c.2668T>A (p.Tyr890Asn)
c.2734T>A (p.Tyr912Asn)
c.2686T>A (p.Tyr896Asn)
c.2551T>A (p.Tyr851Asn)
16g.28835603T>CCA395408148ATXN2Lc.2740T>C (p.Tyr914His)
c.715T>C (p.Tyr239His)
n.3114T>C
c.2758T>C (p.Tyr920His)
c.1804T>C (n.1804T>C)
c.9T>C
c.718T>C (p.Tyr240His)
c.260T>C
c.2761T>C (p.Tyr921His)
c.2743T>C (p.Tyr915His)
c.2581T>C (p.Tyr861His)
c.2689T>C (p.Tyr897His)
c.2671T>C (p.Tyr891His)
c.2395T>C (p.Tyr799His)
n.2970T>C
c.2563T>C (p.Tyr855His)
c.2377T>C (p.Tyr793His)
n.2973T>C
c.2668T>C (p.Tyr890His)
c.2734T>C (p.Tyr912His)
c.2686T>C (p.Tyr896His)
c.2551T>C (p.Tyr851His)
16g.28835603T>GCA395408145ATXN2Lc.2740T>G (p.Tyr914Asp)
c.715T>G (p.Tyr239Asp)
n.3114T>G
c.2758T>G (p.Tyr920Asp)
c.1804T>G (n.1804T>G)
c.9T>G
c.718T>G (p.Tyr240Asp)
c.260T>G
c.2761T>G (p.Tyr921Asp)
c.2743T>G (p.Tyr915Asp)
c.2581T>G (p.Tyr861Asp)
c.2689T>G (p.Tyr897Asp)
c.2671T>G (p.Tyr891Asp)
c.2395T>G (p.Tyr799Asp)
n.2970T>G
c.2563T>G (p.Tyr855Asp)
c.2377T>G (p.Tyr793Asp)
n.2973T>G
c.2668T>G (p.Tyr890Asp)
c.2734T>G (p.Tyr912Asp)
c.2686T>G (p.Tyr896Asp)
c.2551T>G (p.Tyr851Asp)
16g.28835604A>CCA395408150ATXN2Lc.2741A>C (p.Tyr914Ser)
c.716A>C (p.Tyr239Ser)
n.3115A>C
c.2759A>C (p.Tyr920Ser)
c.1805A>C (n.1805A>C)
c.10A>C
c.719A>C (p.Tyr240Ser)
c.261A>C
c.2762A>C (p.Tyr921Ser)
c.2744A>C (p.Tyr915Ser)
c.2582A>C (p.Tyr861Ser)
c.2690A>C (p.Tyr897Ser)
c.2672A>C (p.Tyr891Ser)
c.2396A>C (p.Tyr799Ser)
n.2971A>C
c.2564A>C (p.Tyr855Ser)
c.2378A>C (p.Tyr793Ser)
n.2974A>C
c.2669A>C (p.Tyr890Ser)
c.2735A>C (p.Tyr912Ser)
c.2687A>C (p.Tyr896Ser)
c.2552A>C (p.Tyr851Ser)
16g.28835604A>GCA395408152ATXN2Lc.2741A>G (p.Tyr914Cys)
c.716A>G (p.Tyr239Cys)
n.3115A>G
c.2759A>G (p.Tyr920Cys)
c.1805A>G (n.1805A>G)
c.10A>G
c.719A>G (p.Tyr240Cys)
c.261A>G
c.2762A>G (p.Tyr921Cys)
c.2744A>G (p.Tyr915Cys)
c.2582A>G (p.Tyr861Cys)
c.2690A>G (p.Tyr897Cys)
c.2672A>G (p.Tyr891Cys)
c.2396A>G (p.Tyr799Cys)
n.2971A>G
c.2564A>G (p.Tyr855Cys)
c.2378A>G (p.Tyr793Cys)
n.2974A>G
c.2669A>G (p.Tyr890Cys)
c.2735A>G (p.Tyr912Cys)
c.2687A>G (p.Tyr896Cys)
c.2552A>G (p.Tyr851Cys)
16g.28835604A>TCA395408154ATXN2Lc.2741A>T (p.Tyr914Phe)
c.716A>T (p.Tyr239Phe)
n.3115A>T
c.2759A>T (p.Tyr920Phe)
c.1805A>T (n.1805A>T)
c.10A>T
c.719A>T (p.Tyr240Phe)
c.261A>T
c.2762A>T (p.Tyr921Phe)
c.2744A>T (p.Tyr915Phe)
c.2582A>T (p.Tyr861Phe)
c.2690A>T (p.Tyr897Phe)
c.2672A>T (p.Tyr891Phe)
c.2396A>T (p.Tyr799Phe)
n.2971A>T
c.2564A>T (p.Tyr855Phe)
c.2378A>T (p.Tyr793Phe)
n.2974A>T
c.2669A>T (p.Tyr890Phe)
c.2735A>T (p.Tyr912Phe)
c.2687A>T (p.Tyr896Phe)
c.2552A>T (p.Tyr851Phe)
16g.28835605C>ACA395408156ATXN2Lc.2742C>A (p.Tyr914Ter)
c.717C>A (p.Tyr239Ter)
n.3116C>A
c.2760C>A (p.Tyr920Ter)
c.1806C>A (n.1806C>A)
c.11C>A
c.720C>A (p.Tyr240Ter)
c.262C>A
c.2763C>A (p.Tyr921Ter)
c.2745C>A (p.Tyr915Ter)
c.2583C>A (p.Tyr861Ter)
c.2691C>A (p.Tyr897Ter)
c.2673C>A (p.Tyr891Ter)
c.2397C>A (p.Tyr799Ter)
n.2972C>A
c.2565C>A (p.Tyr855Ter)
c.2379C>A (p.Tyr793Ter)
n.2975C>A
c.2670C>A (p.Tyr890Ter)
c.2736C>A (p.Tyr912Ter)
c.2688C>A (p.Tyr896Ter)
c.2553C>A (p.Tyr851Ter)
16g.28835605C>GCA395408158ATXN2Lc.2742C>G (p.Tyr914Ter)
c.717C>G (p.Tyr239Ter)
n.3116C>G
c.2760C>G (p.Tyr920Ter)
c.1806C>G (n.1806C>G)
c.11C>G
c.720C>G (p.Tyr240Ter)
c.262C>G
c.2763C>G (p.Tyr921Ter)
c.2745C>G (p.Tyr915Ter)
c.2583C>G (p.Tyr861Ter)
c.2691C>G (p.Tyr897Ter)
c.2673C>G (p.Tyr891Ter)
c.2397C>G (p.Tyr799Ter)
n.2972C>G
c.2565C>G (p.Tyr855Ter)
c.2379C>G (p.Tyr793Ter)
n.2975C>G
c.2670C>G (p.Tyr890Ter)
c.2736C>G (p.Tyr912Ter)
c.2688C>G (p.Tyr896Ter)
c.2553C>G (p.Tyr851Ter)
16g.28835605C>TCA494868415ATXN2Lc.2742C>T (p.Tyr914=)
c.717C>T (p.Tyr239=)
n.3116C>T
c.2760C>T (p.Tyr920=)
c.1806C>T (n.1806C>T)
c.11C>T
c.720C>T (p.Tyr240=)
c.262C>T
c.2763C>T (p.Tyr921=)
c.2745C>T (p.Tyr915=)
c.2583C>T (p.Tyr861=)
c.2691C>T (p.Tyr897=)
c.2673C>T (p.Tyr891=)
c.2397C>T (p.Tyr799=)
n.2972C>T
c.2565C>T (p.Tyr855=)
c.2379C>T (p.Tyr793=)
n.2975C>T
c.2670C>T (p.Tyr890=)
c.2736C>T (p.Tyr912=)
c.2688C>T (p.Tyr896=)
c.2553C>T (p.Tyr851=)
 gnomAD v4
16g.28835606C>ACA395408159ATXN2Lc.2743C>A (p.His915Asn)
c.718C>A (p.His240Asn)
n.3117C>A
c.2761C>A (p.His921Asn)
c.1807C>A (n.1807C>A)
c.12C>A
c.721C>A (p.His241Asn)
c.263C>A
c.2764C>A (p.His922Asn)
c.2746C>A (p.His916Asn)
c.2584C>A (p.His862Asn)
c.2692C>A (p.His898Asn)
c.2674C>A (p.His892Asn)
c.2398C>A (p.His800Asn)
n.2973C>A
c.2566C>A (p.His856Asn)
c.2380C>A (p.His794Asn)
n.2976C>A
c.2671C>A (p.His891Asn)
c.2737C>A (p.His913Asn)
c.2689C>A (p.His897Asn)
c.2554C>A (p.His852Asn)
16g.28835606C>GCA395408161ATXN2Lc.2743C>G (p.His915Asp)
c.718C>G (p.His240Asp)
n.3117C>G
c.2761C>G (p.His921Asp)
c.1807C>G (n.1807C>G)
c.12C>G
c.721C>G (p.His241Asp)
c.263C>G
c.2764C>G (p.His922Asp)
c.2746C>G (p.His916Asp)
c.2584C>G (p.His862Asp)
c.2692C>G (p.His898Asp)
c.2674C>G (p.His892Asp)
c.2398C>G (p.His800Asp)
n.2973C>G
c.2566C>G (p.His856Asp)
c.2380C>G (p.His794Asp)
n.2976C>G
c.2671C>G (p.His891Asp)
c.2737C>G (p.His913Asp)
c.2689C>G (p.His897Asp)
c.2554C>G (p.His852Asp)
16g.28835606C>TCA395408162ATXN2Lc.2743C>T (p.His915Tyr)
c.718C>T (p.His240Tyr)
n.3117C>T
c.2761C>T (p.His921Tyr)
c.1807C>T (n.1807C>T)
c.12C>T
c.721C>T (p.His241Tyr)
c.263C>T
c.2764C>T (p.His922Tyr)
c.2746C>T (p.His916Tyr)
c.2584C>T (p.His862Tyr)
c.2692C>T (p.His898Tyr)
c.2674C>T (p.His892Tyr)
c.2398C>T (p.His800Tyr)
n.2973C>T
c.2566C>T (p.His856Tyr)
c.2380C>T (p.His794Tyr)
n.2976C>T
c.2671C>T (p.His891Tyr)
c.2737C>T (p.His913Tyr)
c.2689C>T (p.His897Tyr)
c.2554C>T (p.His852Tyr)
 gnomAD v4
16g.28835607A>CCA395408164ATXN2Lc.2744A>C (p.His915Pro)
c.719A>C (p.His240Pro)
n.3118A>C
c.2762A>C (p.His921Pro)
c.1808A>C (n.1808A>C)
c.13A>C
c.722A>C (p.His241Pro)
c.264A>C
c.2765A>C (p.His922Pro)
c.2747A>C (p.His916Pro)
c.2585A>C (p.His862Pro)
c.2693A>C (p.His898Pro)
c.2675A>C (p.His892Pro)
c.2399A>C (p.His800Pro)
n.2974A>C
c.2567A>C (p.His856Pro)
c.2381A>C (p.His794Pro)
n.2977A>C
c.2672A>C (p.His891Pro)
c.2738A>C (p.His913Pro)
c.2690A>C (p.His897Pro)
c.2555A>C (p.His852Pro)
16g.28835607A>GCA395408166ATXN2Lc.2744A>G (p.His915Arg)
c.719A>G (p.His240Arg)
n.3118A>G
c.2762A>G (p.His921Arg)
c.1808A>G (n.1808A>G)
c.13A>G
c.722A>G (p.His241Arg)
c.264A>G
c.2765A>G (p.His922Arg)
c.2747A>G (p.His916Arg)
c.2585A>G (p.His862Arg)
c.2693A>G (p.His898Arg)
c.2675A>G (p.His892Arg)
c.2399A>G (p.His800Arg)
n.2974A>G
c.2567A>G (p.His856Arg)
c.2381A>G (p.His794Arg)
n.2977A>G
c.2672A>G (p.His891Arg)
c.2738A>G (p.His913Arg)
c.2690A>G (p.His897Arg)
c.2555A>G (p.His852Arg)
16g.28835607A>TCA395408167ATXN2Lc.2744A>T (p.His915Leu)
c.719A>T (p.His240Leu)
n.3118A>T
c.2762A>T (p.His921Leu)
c.1808A>T (n.1808A>T)
c.13A>T
c.722A>T (p.His241Leu)
c.264A>T
c.2765A>T (p.His922Leu)
c.2747A>T (p.His916Leu)
c.2585A>T (p.His862Leu)
c.2693A>T (p.His898Leu)
c.2675A>T (p.His892Leu)
c.2399A>T (p.His800Leu)
n.2974A>T
c.2567A>T (p.His856Leu)
c.2381A>T (p.His794Leu)
n.2977A>T
c.2672A>T (p.His891Leu)
c.2738A>T (p.His913Leu)
c.2690A>T (p.His897Leu)
c.2555A>T (p.His852Leu)
16g.28835608C>ACA395408169ATXN2Lc.2745C>A (p.His915Gln)
c.720C>A (p.His240Gln)
n.3119C>A
c.2763C>A (p.His921Gln)
c.1809C>A (n.1809C>A)
c.14C>A
c.723C>A (p.His241Gln)
c.265C>A
c.2766C>A (p.His922Gln)
c.2748C>A (p.His916Gln)
c.2586C>A (p.His862Gln)
c.2694C>A (p.His898Gln)
c.2676C>A (p.His892Gln)
c.2400C>A (p.His800Gln)
n.2975C>A
c.2568C>A (p.His856Gln)
c.2382C>A (p.His794Gln)
n.2978C>A
c.2673C>A (p.His891Gln)
c.2739C>A (p.His913Gln)
c.2691C>A (p.His897Gln)
c.2556C>A (p.His852Gln)
16g.28835608C>GCA395408171ATXN2Lc.2745C>G (p.His915Gln)
c.720C>G (p.His240Gln)
n.3119C>G
c.2763C>G (p.His921Gln)
c.1809C>G (n.1809C>G)
c.14C>G
c.723C>G (p.His241Gln)
c.265C>G
c.2766C>G (p.His922Gln)
c.2748C>G (p.His916Gln)
c.2586C>G (p.His862Gln)
c.2694C>G (p.His898Gln)
c.2676C>G (p.His892Gln)
c.2400C>G (p.His800Gln)
n.2975C>G
c.2568C>G (p.His856Gln)
c.2382C>G (p.His794Gln)
n.2978C>G
c.2673C>G (p.His891Gln)
c.2739C>G (p.His913Gln)
c.2691C>G (p.His897Gln)
c.2556C>G (p.His852Gln)
16g.28835608C>TCA494868471ATXN2Lc.2745C>T (p.His915=)
c.720C>T (p.His240=)
n.3119C>T
c.2763C>T (p.His921=)
c.1809C>T (n.1809C>T)
c.14C>T
c.723C>T (p.His241=)
c.265C>T
c.2766C>T (p.His922=)
c.2748C>T (p.His916=)
c.2586C>T (p.His862=)
c.2694C>T (p.His898=)
c.2676C>T (p.His892=)
c.2400C>T (p.His800=)
n.2975C>T
c.2568C>T (p.His856=)
c.2382C>T (p.His794=)
n.2978C>T
c.2673C>T (p.His891=)
c.2739C>T (p.His913=)
c.2691C>T (p.His897=)
c.2556C>T (p.His852=)
 gnomAD v4
16g.28835609C>ACA395408176ATXN2Lc.2746C>A (p.Pro916Thr)
c.721C>A (p.Pro241Thr)
n.3120C>A
c.2764C>A (p.Pro922Thr)
c.1810C>A (n.1810C>A)
c.15C>A
c.724C>A (p.Pro242Thr)
c.266C>A
c.2767C>A (p.Pro923Thr)
c.2749C>A (p.Pro917Thr)
c.2587C>A (p.Pro863Thr)
c.2695C>A (p.Pro899Thr)
c.2677C>A (p.Pro893Thr)
c.2401C>A (p.Pro801Thr)
n.2976C>A
c.2569C>A (p.Pro857Thr)
c.2383C>A (p.Pro795Thr)
n.2979C>A
c.2674C>A (p.Pro892Thr)
c.2740C>A (p.Pro914Thr)
c.2692C>A (p.Pro898Thr)
c.2557C>A (p.Pro853Thr)
16g.28835609C=CA2215806305ATXN2Lc.2746C= (p.Pro916=)
c.721C= (p.Pro241=)
n.3120C=
c.2764C= (p.Pro922=)
c.1810C= (n.1810C=)
c.15C=
c.724C= (p.Pro242=)
c.266C=
c.2767C= (p.Pro923=)
c.2749C= (p.Pro917=)
c.2587C= (p.Pro863=)
c.2695C= (p.Pro899=)
c.2677C= (p.Pro893=)
c.2401C= (p.Pro801=)
n.2976C=
c.2569C= (p.Pro857=)
c.2383C= (p.Pro795=)
n.2979C=
c.2674C= (p.Pro892=)
c.2740C= (p.Pro914=)
c.2692C= (p.Pro898=)
c.2557C= (p.Pro853=)
16g.28835609C>GCA395408174ATXN2Lc.2746C>G (p.Pro916Ala)
c.721C>G (p.Pro241Ala)
n.3120C>G
c.2764C>G (p.Pro922Ala)
c.1810C>G (n.1810C>G)
c.15C>G
c.724C>G (p.Pro242Ala)
c.266C>G
c.2767C>G (p.Pro923Ala)
c.2749C>G (p.Pro917Ala)
c.2587C>G (p.Pro863Ala)
c.2695C>G (p.Pro899Ala)
c.2677C>G (p.Pro893Ala)
c.2401C>G (p.Pro801Ala)
n.2976C>G
c.2569C>G (p.Pro857Ala)
c.2383C>G (p.Pro795Ala)
n.2979C>G
c.2674C>G (p.Pro892Ala)
c.2740C>G (p.Pro914Ala)
c.2692C>G (p.Pro898Ala)
c.2557C>G (p.Pro853Ala)
 gnomAD v4
16g.28835609C>TCA7985083ATXN2Lc.2746C>T (p.Pro916Ser)
c.721C>T (p.Pro241Ser)
n.3120C>T
c.2764C>T (p.Pro922Ser)
c.1810C>T (n.1810C>T)
c.15C>T
c.724C>T (p.Pro242Ser)
c.266C>T
c.2767C>T (p.Pro923Ser)
c.2749C>T (p.Pro917Ser)
c.2587C>T (p.Pro863Ser)
c.2695C>T (p.Pro899Ser)
c.2677C>T (p.Pro893Ser)
c.2401C>T (p.Pro801Ser)
n.2976C>T
c.2569C>T (p.Pro857Ser)
c.2383C>T (p.Pro795Ser)
n.2979C>T
c.2674C>T (p.Pro892Ser)
c.2740C>T (p.Pro914Ser)
c.2692C>T (p.Pro898Ser)
c.2557C>T (p.Pro853Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835610C>ACA395408177ATXN2Lc.2747C>A (p.Pro916Gln)
c.722C>A (p.Pro241Gln)
n.3121C>A
c.2765C>A (p.Pro922Gln)
c.1811C>A (n.1811C>A)
c.16C>A
c.725C>A (p.Pro242Gln)
c.267C>A
c.2768C>A (p.Pro923Gln)
c.2750C>A (p.Pro917Gln)
c.2588C>A (p.Pro863Gln)
c.2696C>A (p.Pro899Gln)
c.2678C>A (p.Pro893Gln)
c.2402C>A (p.Pro801Gln)
n.2977C>A
c.2570C>A (p.Pro857Gln)
c.2384C>A (p.Pro795Gln)
n.2980C>A
c.2675C>A (p.Pro892Gln)
c.2741C>A (p.Pro914Gln)
c.2693C>A (p.Pro898Gln)
c.2558C>A (p.Pro853Gln)
16g.28835610C>GCA395408179ATXN2Lc.2747C>G (p.Pro916Arg)
c.722C>G (p.Pro241Arg)
n.3121C>G
c.2765C>G (p.Pro922Arg)
c.1811C>G (n.1811C>G)
c.16C>G
c.725C>G (p.Pro242Arg)
c.267C>G
c.2768C>G (p.Pro923Arg)
c.2750C>G (p.Pro917Arg)
c.2588C>G (p.Pro863Arg)
c.2696C>G (p.Pro899Arg)
c.2678C>G (p.Pro893Arg)
c.2402C>G (p.Pro801Arg)
n.2977C>G
c.2570C>G (p.Pro857Arg)
c.2384C>G (p.Pro795Arg)
n.2980C>G
c.2675C>G (p.Pro892Arg)
c.2741C>G (p.Pro914Arg)
c.2693C>G (p.Pro898Arg)
c.2558C>G (p.Pro853Arg)
16g.28835610C>TCA395408181ATXN2Lc.2747C>T (p.Pro916Leu)
c.722C>T (p.Pro241Leu)
n.3121C>T
c.2765C>T (p.Pro922Leu)
c.1811C>T (n.1811C>T)
c.16C>T
c.725C>T (p.Pro242Leu)
c.267C>T
c.2768C>T (p.Pro923Leu)
c.2750C>T (p.Pro917Leu)
c.2588C>T (p.Pro863Leu)
c.2696C>T (p.Pro899Leu)
c.2678C>T (p.Pro893Leu)
c.2402C>T (p.Pro801Leu)
n.2977C>T
c.2570C>T (p.Pro857Leu)
c.2384C>T (p.Pro795Leu)
n.2980C>T
c.2675C>T (p.Pro892Leu)
c.2741C>T (p.Pro914Leu)
c.2693C>T (p.Pro898Leu)
c.2558C>T (p.Pro853Leu)
16g.28835611A>CCA494868523ATXN2Lc.2748A>C (p.Pro916=)
c.723A>C (p.Pro241=)
n.3122A>C
c.2766A>C (p.Pro922=)
c.1812A>C (n.1812A>C)
c.17A>C
c.726A>C (p.Pro242=)
c.268A>C
c.2769A>C (p.Pro923=)
c.2751A>C (p.Pro917=)
c.2589A>C (p.Pro863=)
c.2697A>C (p.Pro899=)
c.2679A>C (p.Pro893=)
c.2403A>C (p.Pro801=)
n.2978A>C
c.2571A>C (p.Pro857=)
c.2385A>C (p.Pro795=)
n.2981A>C
c.2676A>C (p.Pro892=)
c.2742A>C (p.Pro914=)
c.2694A>C (p.Pro898=)
c.2559A>C (p.Pro853=)
16g.28835611A>GCA494868526ATXN2Lc.2748A>G (p.Pro916=)
c.723A>G (p.Pro241=)
n.3122A>G
c.2766A>G (p.Pro922=)
c.1812A>G (n.1812A>G)
c.17A>G
c.726A>G (p.Pro242=)
c.268A>G
c.2769A>G (p.Pro923=)
c.2751A>G (p.Pro917=)
c.2589A>G (p.Pro863=)
c.2697A>G (p.Pro899=)
c.2679A>G (p.Pro893=)
c.2403A>G (p.Pro801=)
n.2978A>G
c.2571A>G (p.Pro857=)
c.2385A>G (p.Pro795=)
n.2981A>G
c.2676A>G (p.Pro892=)
c.2742A>G (p.Pro914=)
c.2694A>G (p.Pro898=)
c.2559A>G (p.Pro853=)
16g.28835611A>TCA494868529ATXN2Lc.2748A>T (p.Pro916=)
c.723A>T (p.Pro241=)
n.3122A>T
c.2766A>T (p.Pro922=)
c.1812A>T (n.1812A>T)
c.17A>T
c.726A>T (p.Pro242=)
c.268A>T
c.2769A>T (p.Pro923=)
c.2751A>T (p.Pro917=)
c.2589A>T (p.Pro863=)
c.2697A>T (p.Pro899=)
c.2679A>T (p.Pro893=)
c.2403A>T (p.Pro801=)
n.2978A>T
c.2571A>T (p.Pro857=)
c.2385A>T (p.Pro795=)
n.2981A>T
c.2676A>T (p.Pro892=)
c.2742A>T (p.Pro914=)
c.2694A>T (p.Pro898=)
c.2559A>T (p.Pro853=)
16g.28835612G>ACA395408183ATXN2Lc.2749G>A (p.Gly917Arg)
c.724G>A (p.Gly242Arg)
n.3123G>A
c.2767G>A (p.Gly923Arg)
c.1813G>A (n.1813G>A)
c.18G>A
c.727G>A (p.Gly243Arg)
c.269G>A
c.2770G>A (p.Gly924Arg)
c.2752G>A (p.Gly918Arg)
c.2590G>A (p.Gly864Arg)
c.2698G>A (p.Gly900Arg)
c.2680G>A (p.Gly894Arg)
c.2404G>A (p.Gly802Arg)
n.2979G>A
c.2572G>A (p.Gly858Arg)
c.2386G>A (p.Gly796Arg)
n.2982G>A
c.2677G>A (p.Gly893Arg)
c.2743G>A (p.Gly915Arg)
c.2695G>A (p.Gly899Arg)
c.2560G>A (p.Gly854Arg)
16g.28835612G>CCA395408184ATXN2Lc.2749G>C (p.Gly917Arg)
c.724G>C (p.Gly242Arg)
n.3123G>C
c.2767G>C (p.Gly923Arg)
c.1813G>C (n.1813G>C)
c.18G>C
c.727G>C (p.Gly243Arg)
c.269G>C
c.2770G>C (p.Gly924Arg)
c.2752G>C (p.Gly918Arg)
c.2590G>C (p.Gly864Arg)
c.2698G>C (p.Gly900Arg)
c.2680G>C (p.Gly894Arg)
c.2404G>C (p.Gly802Arg)
n.2979G>C
c.2572G>C (p.Gly858Arg)
c.2386G>C (p.Gly796Arg)
n.2982G>C
c.2677G>C (p.Gly893Arg)
c.2743G>C (p.Gly915Arg)
c.2695G>C (p.Gly899Arg)
c.2560G>C (p.Gly854Arg)
 gnomAD v4
16g.28835612G>TCA395408186ATXN2Lc.2749G>T (p.Gly917Trp)
c.724G>T (p.Gly242Trp)
n.3123G>T
c.2767G>T (p.Gly923Trp)
c.1813G>T (n.1813G>T)
c.18G>T
c.727G>T (p.Gly243Trp)
c.269G>T
c.2770G>T (p.Gly924Trp)
c.2752G>T (p.Gly918Trp)
c.2590G>T (p.Gly864Trp)
c.2698G>T (p.Gly900Trp)
c.2680G>T (p.Gly894Trp)
c.2404G>T (p.Gly802Trp)
n.2979G>T
c.2572G>T (p.Gly858Trp)
c.2386G>T (p.Gly796Trp)
n.2982G>T
c.2677G>T (p.Gly893Trp)
c.2743G>T (p.Gly915Trp)
c.2695G>T (p.Gly899Trp)
c.2560G>T (p.Gly854Trp)
16g.28835613G>ACA395408188ATXN2Lc.2750G>A (p.Gly917Glu)
c.725G>A (p.Gly242Glu)
n.3124G>A
c.2768G>A (p.Gly923Glu)
c.1814G>A (n.1814G>A)
c.19G>A
c.728G>A (p.Gly243Glu)
c.270G>A
c.2771G>A (p.Gly924Glu)
c.2753G>A (p.Gly918Glu)
c.2591G>A (p.Gly864Glu)
c.2699G>A (p.Gly900Glu)
c.2681G>A (p.Gly894Glu)
c.2405G>A (p.Gly802Glu)
n.2980G>A
c.2573G>A (p.Gly858Glu)
c.2387G>A (p.Gly796Glu)
n.2983G>A
c.2678G>A (p.Gly893Glu)
c.2744G>A (p.Gly915Glu)
c.2696G>A (p.Gly899Glu)
c.2561G>A (p.Gly854Glu)
16g.28835613G>CCA395408189ATXN2Lc.2750G>C (p.Gly917Ala)
c.725G>C (p.Gly242Ala)
n.3124G>C
c.2768G>C (p.Gly923Ala)
c.1814G>C (n.1814G>C)
c.19G>C
c.728G>C (p.Gly243Ala)
c.270G>C
c.2771G>C (p.Gly924Ala)
c.2753G>C (p.Gly918Ala)
c.2591G>C (p.Gly864Ala)
c.2699G>C (p.Gly900Ala)
c.2681G>C (p.Gly894Ala)
c.2405G>C (p.Gly802Ala)
n.2980G>C
c.2573G>C (p.Gly858Ala)
c.2387G>C (p.Gly796Ala)
n.2983G>C
c.2678G>C (p.Gly893Ala)
c.2744G>C (p.Gly915Ala)
c.2696G>C (p.Gly899Ala)
c.2561G>C (p.Gly854Ala)
16g.28835613G=CA2215806306ATXN2Lc.2750G= (p.Gly917=)
c.725G= (p.Gly242=)
n.3124G=
c.2768G= (p.Gly923=)
c.1814G= (n.1814G=)
c.19G=
c.728G= (p.Gly243=)
c.270G=
c.2771G= (p.Gly924=)
c.2753G= (p.Gly918=)
c.2591G= (p.Gly864=)
c.2699G= (p.Gly900=)
c.2681G= (p.Gly894=)
c.2405G= (p.Gly802=)
n.2980G=
c.2573G= (p.Gly858=)
c.2387G= (p.Gly796=)
n.2983G=
c.2678G= (p.Gly893=)
c.2744G= (p.Gly915=)
c.2696G= (p.Gly899=)
c.2561G= (p.Gly854=)
16g.28835613G>TCA7985084ATXN2Lc.2750G>T (p.Gly917Val)
c.725G>T (p.Gly242Val)
n.3124G>T
c.2768G>T (p.Gly923Val)
c.1814G>T (n.1814G>T)
c.19G>T
c.728G>T (p.Gly243Val)
c.270G>T
c.2771G>T (p.Gly924Val)
c.2753G>T (p.Gly918Val)
c.2591G>T (p.Gly864Val)
c.2699G>T (p.Gly900Val)
c.2681G>T (p.Gly894Val)
c.2405G>T (p.Gly802Val)
n.2980G>T
c.2573G>T (p.Gly858Val)
c.2387G>T (p.Gly796Val)
n.2983G>T
c.2678G>T (p.Gly893Val)
c.2744G>T (p.Gly915Val)
c.2696G>T (p.Gly899Val)
c.2561G>T (p.Gly854Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835614G>ACA7985085ATXN2Lc.2751G>A (p.Gly917=)
c.726G>A (p.Gly242=)
n.3125G>A
c.2769G>A (p.Gly923=)
c.1815G>A (n.1815G>A)
c.20G>A
c.729G>A (p.Gly243=)
c.271G>A
c.2772G>A (p.Gly924=)
c.2754G>A (p.Gly918=)
c.2592G>A (p.Gly864=)
c.2700G>A (p.Gly900=)
c.2682G>A (p.Gly894=)
c.2406G>A (p.Gly802=)
n.2981G>A
c.2574G>A (p.Gly858=)
c.2388G>A (p.Gly796=)
n.2984G>A
c.2679G>A (p.Gly893=)
c.2745G>A (p.Gly915=)
c.2697G>A (p.Gly899=)
c.2562G>A (p.Gly854=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835614G>CCA494868544ATXN2Lc.2751G>C (p.Gly917=)
c.726G>C (p.Gly242=)
n.3125G>C
c.2769G>C (p.Gly923=)
c.1815G>C (n.1815G>C)
c.20G>C
c.729G>C (p.Gly243=)
c.271G>C
c.2772G>C (p.Gly924=)
c.2754G>C (p.Gly918=)
c.2592G>C (p.Gly864=)
c.2700G>C (p.Gly900=)
c.2682G>C (p.Gly894=)
c.2406G>C (p.Gly802=)
n.2981G>C
c.2574G>C (p.Gly858=)
c.2388G>C (p.Gly796=)
n.2984G>C
c.2679G>C (p.Gly893=)
c.2745G>C (p.Gly915=)
c.2697G>C (p.Gly899=)
c.2562G>C (p.Gly854=)
16g.28835614G=CA2215806308ATXN2Lc.2751G= (p.Gly917=)
c.726G= (p.Gly242=)
n.3125G=
c.2769G= (p.Gly923=)
c.1815G= (n.1815G=)
c.20G=
c.729G= (p.Gly243=)
c.271G=
c.2772G= (p.Gly924=)
c.2754G= (p.Gly918=)
c.2592G= (p.Gly864=)
c.2700G= (p.Gly900=)
c.2682G= (p.Gly894=)
c.2406G= (p.Gly802=)
n.2981G=
c.2574G= (p.Gly858=)
c.2388G= (p.Gly796=)
n.2984G=
c.2679G= (p.Gly893=)
c.2745G= (p.Gly915=)
c.2697G= (p.Gly899=)
c.2562G= (p.Gly854=)
16g.28835614G>TCA494868547ATXN2Lc.2751G>T (p.Gly917=)
c.726G>T (p.Gly242=)
n.3125G>T
c.2769G>T (p.Gly923=)
c.1815G>T (n.1815G>T)
c.20G>T
c.729G>T (p.Gly243=)
c.271G>T
c.2772G>T (p.Gly924=)
c.2754G>T (p.Gly918=)
c.2592G>T (p.Gly864=)
c.2700G>T (p.Gly900=)
c.2682G>T (p.Gly894=)
c.2406G>T (p.Gly802=)
n.2981G>T
c.2574G>T (p.Gly858=)
c.2388G>T (p.Gly796=)
n.2984G>T
c.2679G>T (p.Gly893=)
c.2745G>T (p.Gly915=)
c.2697G>T (p.Gly899=)
c.2562G>T (p.Gly854=)
16g.28835615G>ACA395408192ATXN2Lc.2752G>A (p.Ala918Thr)
c.727G>A (p.Ala243Thr)
n.3126G>A
c.2770G>A (p.Ala924Thr)
c.1816G>A (n.1816G>A)
c.21G>A
c.730G>A (p.Ala244Thr)
c.272G>A
c.2773G>A (p.Ala925Thr)
c.2755G>A (p.Ala919Thr)
c.2593G>A (p.Ala865Thr)
c.2701G>A (p.Ala901Thr)
c.2683G>A (p.Ala895Thr)
c.2407G>A (p.Ala803Thr)
n.2982G>A
c.2575G>A (p.Ala859Thr)
c.2389G>A (p.Ala797Thr)
n.2985G>A
c.2680G>A (p.Ala894Thr)
c.2746G>A (p.Ala916Thr)
c.2698G>A (p.Ala900Thr)
c.2563G>A (p.Ala855Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835615G>CCA395408194ATXN2Lc.2752G>C (p.Ala918Pro)
c.727G>C (p.Ala243Pro)
n.3126G>C
c.2770G>C (p.Ala924Pro)
c.1816G>C (n.1816G>C)
c.21G>C
c.730G>C (p.Ala244Pro)
c.272G>C
c.2773G>C (p.Ala925Pro)
c.2755G>C (p.Ala919Pro)
c.2593G>C (p.Ala865Pro)
c.2701G>C (p.Ala901Pro)
c.2683G>C (p.Ala895Pro)
c.2407G>C (p.Ala803Pro)
n.2982G>C
c.2575G>C (p.Ala859Pro)
c.2389G>C (p.Ala797Pro)
n.2985G>C
c.2680G>C (p.Ala894Pro)
c.2746G>C (p.Ala916Pro)
c.2698G>C (p.Ala900Pro)
c.2563G>C (p.Ala855Pro)
16g.28835615G=CA2215806310ATXN2Lc.2752G= (p.Ala918=)
c.727G= (p.Ala243=)
n.3126G=
c.2770G= (p.Ala924=)
c.1816G= (n.1816G=)
c.21G=
c.730G= (p.Ala244=)
c.272G=
c.2773G= (p.Ala925=)
c.2755G= (p.Ala919=)
c.2593G= (p.Ala865=)
c.2701G= (p.Ala901=)
c.2683G= (p.Ala895=)
c.2407G= (p.Ala803=)
n.2982G=
c.2575G= (p.Ala859=)
c.2389G= (p.Ala797=)
n.2985G=
c.2680G= (p.Ala894=)
c.2746G= (p.Ala916=)
c.2698G= (p.Ala900=)
c.2563G= (p.Ala855=)
16g.28835615G>TCA7985086ATXN2Lc.2752G>T (p.Ala918Ser)
c.727G>T (p.Ala243Ser)
n.3126G>T
c.2770G>T (p.Ala924Ser)
c.1816G>T (n.1816G>T)
c.21G>T
c.730G>T (p.Ala244Ser)
c.272G>T
c.2773G>T (p.Ala925Ser)
c.2755G>T (p.Ala919Ser)
c.2593G>T (p.Ala865Ser)
c.2701G>T (p.Ala901Ser)
c.2683G>T (p.Ala895Ser)
c.2407G>T (p.Ala803Ser)
n.2982G>T
c.2575G>T (p.Ala859Ser)
c.2389G>T (p.Ala797Ser)
n.2985G>T
c.2680G>T (p.Ala894Ser)
c.2746G>T (p.Ala916Ser)
c.2698G>T (p.Ala900Ser)
c.2563G>T (p.Ala855Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835616C>ACA395408201ATXN2Lc.2753C>A (p.Ala918Asp)
c.728C>A (p.Ala243Asp)
n.3127C>A
c.2771C>A (p.Ala924Asp)
c.1817C>A (n.1817C>A)
c.22C>A
c.731C>A (p.Ala244Asp)
c.273C>A
c.2774C>A (p.Ala925Asp)
c.2756C>A (p.Ala919Asp)
c.2594C>A (p.Ala865Asp)
c.2702C>A (p.Ala901Asp)
c.2684C>A (p.Ala895Asp)
c.2408C>A (p.Ala803Asp)
n.2983C>A
c.2576C>A (p.Ala859Asp)
c.2390C>A (p.Ala797Asp)
n.2986C>A
c.2681C>A (p.Ala894Asp)
c.2747C>A (p.Ala916Asp)
c.2699C>A (p.Ala900Asp)
c.2564C>A (p.Ala855Asp)
16g.28835616C>GCA395408199ATXN2Lc.2753C>G (p.Ala918Gly)
c.728C>G (p.Ala243Gly)
n.3127C>G
c.2771C>G (p.Ala924Gly)
c.1817C>G (n.1817C>G)
c.22C>G
c.731C>G (p.Ala244Gly)
c.273C>G
c.2774C>G (p.Ala925Gly)
c.2756C>G (p.Ala919Gly)
c.2594C>G (p.Ala865Gly)
c.2702C>G (p.Ala901Gly)
c.2684C>G (p.Ala895Gly)
c.2408C>G (p.Ala803Gly)
n.2983C>G
c.2576C>G (p.Ala859Gly)
c.2390C>G (p.Ala797Gly)
n.2986C>G
c.2681C>G (p.Ala894Gly)
c.2747C>G (p.Ala916Gly)
c.2699C>G (p.Ala900Gly)
c.2564C>G (p.Ala855Gly)
16g.28835616C>TCA395408197ATXN2Lc.2753C>T (p.Ala918Val)
c.728C>T (p.Ala243Val)
n.3127C>T
c.2771C>T (p.Ala924Val)
c.1817C>T (n.1817C>T)
c.22C>T
c.731C>T (p.Ala244Val)
c.273C>T
c.2774C>T (p.Ala925Val)
c.2756C>T (p.Ala919Val)
c.2594C>T (p.Ala865Val)
c.2702C>T (p.Ala901Val)
c.2684C>T (p.Ala895Val)
c.2408C>T (p.Ala803Val)
n.2983C>T
c.2576C>T (p.Ala859Val)
c.2390C>T (p.Ala797Val)
n.2986C>T
c.2681C>T (p.Ala894Val)
c.2747C>T (p.Ala916Val)
c.2699C>T (p.Ala900Val)
c.2564C>T (p.Ala855Val)
 gnomAD v4
16g.28835617C>ACA494868568ATXN2Lc.2754C>A (p.Ala918=)
c.729C>A (p.Ala243=)
n.3128C>A
c.2772C>A (p.Ala924=)
c.1818C>A (n.1818C>A)
c.23C>A
c.732C>A (p.Ala244=)
c.274C>A
c.2775C>A (p.Ala925=)
c.2757C>A (p.Ala919=)
c.2595C>A (p.Ala865=)
c.2703C>A (p.Ala901=)
c.2685C>A (p.Ala895=)
c.2409C>A (p.Ala803=)
n.2984C>A
c.2577C>A (p.Ala859=)
c.2391C>A (p.Ala797=)
n.2987C>A
c.2682C>A (p.Ala894=)
c.2748C>A (p.Ala916=)
c.2700C>A (p.Ala900=)
c.2565C>A (p.Ala855=)
16g.28835617C>GCA494868570ATXN2Lc.2754C>G (p.Ala918=)
c.729C>G (p.Ala243=)
n.3128C>G
c.2772C>G (p.Ala924=)
c.1818C>G (n.1818C>G)
c.23C>G
c.732C>G (p.Ala244=)
c.274C>G
c.2775C>G (p.Ala925=)
c.2757C>G (p.Ala919=)
c.2595C>G (p.Ala865=)
c.2703C>G (p.Ala901=)
c.2685C>G (p.Ala895=)
c.2409C>G (p.Ala803=)
n.2984C>G
c.2577C>G (p.Ala859=)
c.2391C>G (p.Ala797=)
n.2987C>G
c.2682C>G (p.Ala894=)
c.2748C>G (p.Ala916=)
c.2700C>G (p.Ala900=)
c.2565C>G (p.Ala855=)
16g.28835617C>TCA494868572ATXN2Lc.2754C>T (p.Ala918=)
c.729C>T (p.Ala243=)
n.3128C>T
c.2772C>T (p.Ala924=)
c.1818C>T (n.1818C>T)
c.23C>T
c.732C>T (p.Ala244=)
c.274C>T
c.2775C>T (p.Ala925=)
c.2757C>T (p.Ala919=)
c.2595C>T (p.Ala865=)
c.2703C>T (p.Ala901=)
c.2685C>T (p.Ala895=)
c.2409C>T (p.Ala803=)
n.2984C>T
c.2577C>T (p.Ala859=)
c.2391C>T (p.Ala797=)
n.2987C>T
c.2682C>T (p.Ala894=)
c.2748C>T (p.Ala916=)
c.2700C>T (p.Ala900=)
c.2565C>T (p.Ala855=)
16g.28835618C>ACA395408205ATXN2Lc.2755C>A (p.Leu919Met)
c.730C>A (p.Leu244Met)
n.3129C>A
c.2773C>A (p.Leu925Met)
c.1819C>A (n.1819C>A)
c.24C>A
c.733C>A (p.Leu245Met)
c.275C>A
c.2776C>A (p.Leu926Met)
c.2758C>A (p.Leu920Met)
c.2596C>A (p.Leu866Met)
c.2704C>A (p.Leu902Met)
c.2686C>A (p.Leu896Met)
c.2410C>A (p.Leu804Met)
n.2985C>A
c.2578C>A (p.Leu860Met)
c.2392C>A (p.Leu798Met)
n.2988C>A
c.2683C>A (p.Leu895Met)
c.2749C>A (p.Leu917Met)
c.2701C>A (p.Leu901Met)
c.2566C>A (p.Leu856Met)
16g.28835618C=CA2215806313ATXN2Lc.2755C= (p.Leu919=)
c.730C= (p.Leu244=)
n.3129C=
c.2773C= (p.Leu925=)
c.1819C= (n.1819C=)
c.24C=
c.733C= (p.Leu245=)
c.275C=
c.2776C= (p.Leu926=)
c.2758C= (p.Leu920=)
c.2596C= (p.Leu866=)
c.2704C= (p.Leu902=)
c.2686C= (p.Leu896=)
c.2410C= (p.Leu804=)
n.2985C=
c.2578C= (p.Leu860=)
c.2392C= (p.Leu798=)
n.2988C=
c.2683C= (p.Leu895=)
c.2749C= (p.Leu917=)
c.2701C= (p.Leu901=)
c.2566C= (p.Leu856=)
16g.28835618C>GCA395408203ATXN2Lc.2755C>G (p.Leu919Val)
c.730C>G (p.Leu244Val)
n.3129C>G
c.2773C>G (p.Leu925Val)
c.1819C>G (n.1819C>G)
c.24C>G
c.733C>G (p.Leu245Val)
c.275C>G
c.2776C>G (p.Leu926Val)
c.2758C>G (p.Leu920Val)
c.2596C>G (p.Leu866Val)
c.2704C>G (p.Leu902Val)
c.2686C>G (p.Leu896Val)
c.2410C>G (p.Leu804Val)
n.2985C>G
c.2578C>G (p.Leu860Val)
c.2392C>G (p.Leu798Val)
n.2988C>G
c.2683C>G (p.Leu895Val)
c.2749C>G (p.Leu917Val)
c.2701C>G (p.Leu901Val)
c.2566C>G (p.Leu856Val)
 gnomAD v4
16g.28835618C>TCA494868581ATXN2Lc.2755C>T (p.Leu919=)
c.730C>T (p.Leu244=)
n.3129C>T
c.2773C>T (p.Leu925=)
c.1819C>T (n.1819C>T)
c.24C>T
c.733C>T (p.Leu245=)
c.275C>T
c.2776C>T (p.Leu926=)
c.2758C>T (p.Leu920=)
c.2596C>T (p.Leu866=)
c.2704C>T (p.Leu902=)
c.2686C>T (p.Leu896=)
c.2410C>T (p.Leu804=)
n.2985C>T
c.2578C>T (p.Leu860=)
c.2392C>T (p.Leu798=)
n.2988C>T
c.2683C>T (p.Leu895=)
c.2749C>T (p.Leu917=)
c.2701C>T (p.Leu901=)
c.2566C>T (p.Leu856=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835619T>ACA395408207ATXN2Lc.2756T>A (p.Leu919Gln)
c.731T>A (p.Leu244Gln)
n.3130T>A
c.2774T>A (p.Leu925Gln)
c.1820T>A (n.1820T>A)
c.25T>A
c.734T>A (p.Leu245Gln)
c.276T>A
c.2777T>A (p.Leu926Gln)
c.2759T>A (p.Leu920Gln)
c.2597T>A (p.Leu866Gln)
c.2705T>A (p.Leu902Gln)
c.2687T>A (p.Leu896Gln)
c.2411T>A (p.Leu804Gln)
n.2986T>A
c.2579T>A (p.Leu860Gln)
c.2393T>A (p.Leu798Gln)
n.2989T>A
c.2684T>A (p.Leu895Gln)
c.2750T>A (p.Leu917Gln)
c.2702T>A (p.Leu901Gln)
c.2567T>A (p.Leu856Gln)
16g.28835619T>CCA395408209ATXN2Lc.2756T>C (p.Leu919Pro)
c.731T>C (p.Leu244Pro)
n.3130T>C
c.2774T>C (p.Leu925Pro)
c.1820T>C (n.1820T>C)
c.25T>C
c.734T>C (p.Leu245Pro)
c.276T>C
c.2777T>C (p.Leu926Pro)
c.2759T>C (p.Leu920Pro)
c.2597T>C (p.Leu866Pro)
c.2705T>C (p.Leu902Pro)
c.2687T>C (p.Leu896Pro)
c.2411T>C (p.Leu804Pro)
n.2986T>C
c.2579T>C (p.Leu860Pro)
c.2393T>C (p.Leu798Pro)
n.2989T>C
c.2684T>C (p.Leu895Pro)
c.2750T>C (p.Leu917Pro)
c.2702T>C (p.Leu901Pro)
c.2567T>C (p.Leu856Pro)
16g.28835619T>GCA395408210ATXN2Lc.2756T>G (p.Leu919Arg)
c.731T>G (p.Leu244Arg)
n.3130T>G
c.2774T>G (p.Leu925Arg)
c.1820T>G (n.1820T>G)
c.25T>G
c.734T>G (p.Leu245Arg)
c.276T>G
c.2777T>G (p.Leu926Arg)
c.2759T>G (p.Leu920Arg)
c.2597T>G (p.Leu866Arg)
c.2705T>G (p.Leu902Arg)
c.2687T>G (p.Leu896Arg)
c.2411T>G (p.Leu804Arg)
n.2986T>G
c.2579T>G (p.Leu860Arg)
c.2393T>G (p.Leu798Arg)
n.2989T>G
c.2684T>G (p.Leu895Arg)
c.2750T>G (p.Leu917Arg)
c.2702T>G (p.Leu901Arg)
c.2567T>G (p.Leu856Arg)
16g.28835620G>ACA494868586ATXN2Lc.2757G>A (p.Leu919=)
c.732G>A (p.Leu244=)
n.3131G>A
c.2775G>A (p.Leu925=)
c.1821G>A (n.1821G>A)
c.26G>A
c.735G>A (p.Leu245=)
c.277G>A
c.2778G>A (p.Leu926=)
c.2760G>A (p.Leu920=)
c.2598G>A (p.Leu866=)
c.2706G>A (p.Leu902=)
c.2688G>A (p.Leu896=)
c.2412G>A (p.Leu804=)
n.2987G>A
c.2580G>A (p.Leu860=)
c.2394G>A (p.Leu798=)
n.2990G>A
c.2685G>A (p.Leu895=)
c.2751G>A (p.Leu917=)
c.2703G>A (p.Leu901=)
c.2568G>A (p.Leu856=)
16g.28835620G>CCA494868587ATXN2Lc.2757G>C (p.Leu919=)
c.732G>C (p.Leu244=)
n.3131G>C
c.2775G>C (p.Leu925=)
c.1821G>C (n.1821G>C)
c.26G>C
c.735G>C (p.Leu245=)
c.277G>C
c.2778G>C (p.Leu926=)
c.2760G>C (p.Leu920=)
c.2598G>C (p.Leu866=)
c.2706G>C (p.Leu902=)
c.2688G>C (p.Leu896=)
c.2412G>C (p.Leu804=)
n.2987G>C
c.2580G>C (p.Leu860=)
c.2394G>C (p.Leu798=)
n.2990G>C
c.2685G>C (p.Leu895=)
c.2751G>C (p.Leu917=)
c.2703G>C (p.Leu901=)
c.2568G>C (p.Leu856=)
16g.28835620G>TCA494868589ATXN2Lc.2757G>T (p.Leu919=)
c.732G>T (p.Leu244=)
n.3131G>T
c.2775G>T (p.Leu925=)
c.1821G>T (n.1821G>T)
c.26G>T
c.735G>T (p.Leu245=)
c.277G>T
c.2778G>T (p.Leu926=)
c.2760G>T (p.Leu920=)
c.2598G>T (p.Leu866=)
c.2706G>T (p.Leu902=)
c.2688G>T (p.Leu896=)
c.2412G>T (p.Leu804=)
n.2987G>T
c.2580G>T (p.Leu860=)
c.2394G>T (p.Leu798=)
n.2990G>T
c.2685G>T (p.Leu895=)
c.2751G>T (p.Leu917=)
c.2703G>T (p.Leu901=)
c.2568G>T (p.Leu856=)
16g.28835621A>CCA395408211ATXN2Lc.2758A>C (p.Thr920Pro)
c.733A>C (p.Thr245Pro)
n.3132A>C
c.2776A>C (p.Thr926Pro)
c.1822A>C (n.1822A>C)
c.27A>C
c.736A>C (p.Thr246Pro)
c.278A>C
c.2779A>C (p.Thr927Pro)
c.2761A>C (p.Thr921Pro)
c.2599A>C (p.Thr867Pro)
c.2707A>C (p.Thr903Pro)
c.2689A>C (p.Thr897Pro)
c.2413A>C (p.Thr805Pro)
n.2988A>C
c.2581A>C (p.Thr861Pro)
c.2395A>C (p.Thr799Pro)
n.2991A>C
c.2686A>C (p.Thr896Pro)
c.2752A>C (p.Thr918Pro)
c.2704A>C (p.Thr902Pro)
c.2569A>C (p.Thr857Pro)
16g.28835621A>GCA395408213ATXN2Lc.2758A>G (p.Thr920Ala)
c.733A>G (p.Thr245Ala)
n.3132A>G
c.2776A>G (p.Thr926Ala)
c.1822A>G (n.1822A>G)
c.27A>G
c.736A>G (p.Thr246Ala)
c.278A>G
c.2779A>G (p.Thr927Ala)
c.2761A>G (p.Thr921Ala)
c.2599A>G (p.Thr867Ala)
c.2707A>G (p.Thr903Ala)
c.2689A>G (p.Thr897Ala)
c.2413A>G (p.Thr805Ala)
n.2988A>G
c.2581A>G (p.Thr861Ala)
c.2395A>G (p.Thr799Ala)
n.2991A>G
c.2686A>G (p.Thr896Ala)
c.2752A>G (p.Thr918Ala)
c.2704A>G (p.Thr902Ala)
c.2569A>G (p.Thr857Ala)
16g.28835621A>TCA395408215ATXN2Lc.2758A>T (p.Thr920Ser)
c.733A>T (p.Thr245Ser)
n.3132A>T
c.2776A>T (p.Thr926Ser)
c.1822A>T (n.1822A>T)
c.27A>T
c.736A>T (p.Thr246Ser)
c.278A>T
c.2779A>T (p.Thr927Ser)
c.2761A>T (p.Thr921Ser)
c.2599A>T (p.Thr867Ser)
c.2707A>T (p.Thr903Ser)
c.2689A>T (p.Thr897Ser)
c.2413A>T (p.Thr805Ser)
n.2988A>T
c.2581A>T (p.Thr861Ser)
c.2395A>T (p.Thr799Ser)
n.2991A>T
c.2686A>T (p.Thr896Ser)
c.2752A>T (p.Thr918Ser)
c.2704A>T (p.Thr902Ser)
c.2569A>T (p.Thr857Ser)
16g.28835622C>ACA395408216ATXN2Lc.2759C>A (p.Thr920Lys)
c.734C>A (p.Thr245Lys)
n.3133C>A
c.2777C>A (p.Thr926Lys)
c.1823C>A (n.1823C>A)
c.28C>A
c.737C>A (p.Thr246Lys)
c.279C>A
c.2780C>A (p.Thr927Lys)
c.2762C>A (p.Thr921Lys)
c.2600C>A (p.Thr867Lys)
c.2708C>A (p.Thr903Lys)
c.2690C>A (p.Thr897Lys)
c.2414C>A (p.Thr805Lys)
n.2989C>A
c.2582C>A (p.Thr861Lys)
c.2396C>A (p.Thr799Lys)
n.2992C>A
c.2687C>A (p.Thr896Lys)
c.2753C>A (p.Thr918Lys)
c.2705C>A (p.Thr902Lys)
c.2570C>A (p.Thr857Lys)
16g.28835622C=CA2215806315ATXN2Lc.2759C= (p.Thr920=)
c.734C= (p.Thr245=)
n.3133C=
c.2777C= (p.Thr926=)
c.1823C= (n.1823C=)
c.28C=
c.737C= (p.Thr246=)
c.279C=
c.2780C= (p.Thr927=)
c.2762C= (p.Thr921=)
c.2600C= (p.Thr867=)
c.2708C= (p.Thr903=)
c.2690C= (p.Thr897=)
c.2414C= (p.Thr805=)
n.2989C=
c.2582C= (p.Thr861=)
c.2396C= (p.Thr799=)
n.2992C=
c.2687C= (p.Thr896=)
c.2753C= (p.Thr918=)
c.2705C= (p.Thr902=)
c.2570C= (p.Thr857=)
16g.28835622C>GCA395408217ATXN2Lc.2759C>G (p.Thr920Arg)
c.734C>G (p.Thr245Arg)
n.3133C>G
c.2777C>G (p.Thr926Arg)
c.1823C>G (n.1823C>G)
c.28C>G
c.737C>G (p.Thr246Arg)
c.279C>G
c.2780C>G (p.Thr927Arg)
c.2762C>G (p.Thr921Arg)
c.2600C>G (p.Thr867Arg)
c.2708C>G (p.Thr903Arg)
c.2690C>G (p.Thr897Arg)
c.2414C>G (p.Thr805Arg)
n.2989C>G
c.2582C>G (p.Thr861Arg)
c.2396C>G (p.Thr799Arg)
n.2992C>G
c.2687C>G (p.Thr896Arg)
c.2753C>G (p.Thr918Arg)
c.2705C>G (p.Thr902Arg)
c.2570C>G (p.Thr857Arg)
16g.28835622C>TCA7985087ATXN2Lc.2759C>T (p.Thr920Ile)
c.734C>T (p.Thr245Ile)
n.3133C>T
c.2777C>T (p.Thr926Ile)
c.1823C>T (n.1823C>T)
c.28C>T
c.737C>T (p.Thr246Ile)
c.279C>T
c.2780C>T (p.Thr927Ile)
c.2762C>T (p.Thr921Ile)
c.2600C>T (p.Thr867Ile)
c.2708C>T (p.Thr903Ile)
c.2690C>T (p.Thr897Ile)
c.2414C>T (p.Thr805Ile)
n.2989C>T
c.2582C>T (p.Thr861Ile)
c.2396C>T (p.Thr799Ile)
n.2992C>T
c.2687C>T (p.Thr896Ile)
c.2753C>T (p.Thr918Ile)
c.2705C>T (p.Thr902Ile)
c.2570C>T (p.Thr857Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835623A>CCA494868606ATXN2Lc.2760A>C (p.Thr920=)
c.735A>C (p.Thr245=)
n.3134A>C
c.2778A>C (p.Thr926=)
c.1824A>C (n.1824A>C)
c.29A>C
c.738A>C (p.Thr246=)
c.280A>C
c.2781A>C (p.Thr927=)
c.2763A>C (p.Thr921=)
c.2601A>C (p.Thr867=)
c.2709A>C (p.Thr903=)
c.2691A>C (p.Thr897=)
c.2415A>C (p.Thr805=)
n.2990A>C
c.2583A>C (p.Thr861=)
c.2397A>C (p.Thr799=)
n.2993A>C
c.2688A>C (p.Thr896=)
c.2754A>C (p.Thr918=)
c.2706A>C (p.Thr902=)
c.2571A>C (p.Thr857=)
16g.28835623A>GCA494868607ATXN2Lc.2760A>G (p.Thr920=)
c.735A>G (p.Thr245=)
n.3134A>G
c.2778A>G (p.Thr926=)
c.1824A>G (n.1824A>G)
c.29A>G
c.738A>G (p.Thr246=)
c.280A>G
c.2781A>G (p.Thr927=)
c.2763A>G (p.Thr921=)
c.2601A>G (p.Thr867=)
c.2709A>G (p.Thr903=)
c.2691A>G (p.Thr897=)
c.2415A>G (p.Thr805=)
n.2990A>G
c.2583A>G (p.Thr861=)
c.2397A>G (p.Thr799=)
n.2993A>G
c.2688A>G (p.Thr896=)
c.2754A>G (p.Thr918=)
c.2706A>G (p.Thr902=)
c.2571A>G (p.Thr857=)
 gnomAD v4
16g.28835623A>TCA494868608ATXN2Lc.2760A>T (p.Thr920=)
c.735A>T (p.Thr245=)
n.3134A>T
c.2778A>T (p.Thr926=)
c.1824A>T (n.1824A>T)
c.29A>T
c.738A>T (p.Thr246=)
c.280A>T
c.2781A>T (p.Thr927=)
c.2763A>T (p.Thr921=)
c.2601A>T (p.Thr867=)
c.2709A>T (p.Thr903=)
c.2691A>T (p.Thr897=)
c.2415A>T (p.Thr805=)
n.2990A>T
c.2583A>T (p.Thr861=)
c.2397A>T (p.Thr799=)
n.2993A>T
c.2688A>T (p.Thr896=)
c.2754A>T (p.Thr918=)
c.2706A>T (p.Thr902=)
c.2571A>T (p.Thr857=)
16g.28835624G>ACA279230752ATXN2Lc.2761G>A (p.Gly921Ser)
c.736G>A (p.Gly246Ser)
n.3135G>A
c.2779G>A (p.Gly927Ser)
c.1825G>A (n.1825G>A)
c.30G>A
c.739G>A (p.Gly247Ser)
c.281G>A
c.2782G>A (p.Gly928Ser)
c.2764G>A (p.Gly922Ser)
c.2602G>A (p.Gly868Ser)
c.2710G>A (p.Gly904Ser)
c.2692G>A (p.Gly898Ser)
c.2416G>A (p.Gly806Ser)
n.2991G>A
c.2584G>A (p.Gly862Ser)
c.2398G>A (p.Gly800Ser)
n.2994G>A
c.2689G>A (p.Gly897Ser)
c.2755G>A (p.Gly919Ser)
c.2707G>A (p.Gly903Ser)
c.2572G>A (p.Gly858Ser)
 dbSNP gnomAD v4
16g.28835624G>CCA395408221ATXN2Lc.2761G>C (p.Gly921Arg)
c.736G>C (p.Gly246Arg)
n.3135G>C
c.2779G>C (p.Gly927Arg)
c.1825G>C (n.1825G>C)
c.30G>C
c.739G>C (p.Gly247Arg)
c.281G>C
c.2782G>C (p.Gly928Arg)
c.2764G>C (p.Gly922Arg)
c.2602G>C (p.Gly868Arg)
c.2710G>C (p.Gly904Arg)
c.2692G>C (p.Gly898Arg)
c.2416G>C (p.Gly806Arg)
n.2991G>C
c.2584G>C (p.Gly862Arg)
c.2398G>C (p.Gly800Arg)
n.2994G>C
c.2689G>C (p.Gly897Arg)
c.2755G>C (p.Gly919Arg)
c.2707G>C (p.Gly903Arg)
c.2572G>C (p.Gly858Arg)
 gnomAD v4
16g.28835624G=CA2215806318ATXN2Lc.2761G= (p.Gly921=)
c.736G= (p.Gly246=)
n.3135G=
c.2779G= (p.Gly927=)
c.1825G= (n.1825G=)
c.30G=
c.739G= (p.Gly247=)
c.281G=
c.2782G= (p.Gly928=)
c.2764G= (p.Gly922=)
c.2602G= (p.Gly868=)
c.2710G= (p.Gly904=)
c.2692G= (p.Gly898=)
c.2416G= (p.Gly806=)
n.2991G=
c.2584G= (p.Gly862=)
c.2398G= (p.Gly800=)
n.2994G=
c.2689G= (p.Gly897=)
c.2755G= (p.Gly919=)
c.2707G= (p.Gly903=)
c.2572G= (p.Gly858=)
16g.28835624G>TCA395408223ATXN2Lc.2761G>T (p.Gly921Cys)
c.736G>T (p.Gly246Cys)
n.3135G>T
c.2779G>T (p.Gly927Cys)
c.1825G>T (n.1825G>T)
c.30G>T
c.739G>T (p.Gly247Cys)
c.281G>T
c.2782G>T (p.Gly928Cys)
c.2764G>T (p.Gly922Cys)
c.2602G>T (p.Gly868Cys)
c.2710G>T (p.Gly904Cys)
c.2692G>T (p.Gly898Cys)
c.2416G>T (p.Gly806Cys)
n.2991G>T
c.2584G>T (p.Gly862Cys)
c.2398G>T (p.Gly800Cys)
n.2994G>T
c.2689G>T (p.Gly897Cys)
c.2755G>T (p.Gly919Cys)
c.2707G>T (p.Gly903Cys)
c.2572G>T (p.Gly858Cys)
16g.28835625G>ACA7985088ATXN2Lc.2762G>A (p.Gly921Asp)
c.737G>A (p.Gly246Asp)
n.3136G>A
c.2780G>A (p.Gly927Asp)
c.1826G>A (n.1826G>A)
c.31G>A
c.740G>A (p.Gly247Asp)
c.282G>A
c.2783G>A (p.Gly928Asp)
c.2765G>A (p.Gly922Asp)
c.2603G>A (p.Gly868Asp)
c.2711G>A (p.Gly904Asp)
c.2693G>A (p.Gly898Asp)
c.2417G>A (p.Gly806Asp)
n.2992G>A
c.2585G>A (p.Gly862Asp)
c.2399G>A (p.Gly800Asp)
n.2995G>A
c.2690G>A (p.Gly897Asp)
c.2756G>A (p.Gly919Asp)
c.2708G>A (p.Gly903Asp)
c.2573G>A (p.Gly858Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835625G>CCA395408227ATXN2Lc.2762G>C (p.Gly921Ala)
c.737G>C (p.Gly246Ala)
n.3136G>C
c.2780G>C (p.Gly927Ala)
c.1826G>C (n.1826G>C)
c.31G>C
c.740G>C (p.Gly247Ala)
c.282G>C
c.2783G>C (p.Gly928Ala)
c.2765G>C (p.Gly922Ala)
c.2603G>C (p.Gly868Ala)
c.2711G>C (p.Gly904Ala)
c.2693G>C (p.Gly898Ala)
c.2417G>C (p.Gly806Ala)
n.2992G>C
c.2585G>C (p.Gly862Ala)
c.2399G>C (p.Gly800Ala)
n.2995G>C
c.2690G>C (p.Gly897Ala)
c.2756G>C (p.Gly919Ala)
c.2708G>C (p.Gly903Ala)
c.2573G>C (p.Gly858Ala)
 gnomAD v4
16g.28835625G=CA2215806320ATXN2Lc.2762G= (p.Gly921=)
c.737G= (p.Gly246=)
n.3136G=
c.2780G= (p.Gly927=)
c.1826G= (n.1826G=)
c.31G=
c.740G= (p.Gly247=)
c.282G=
c.2783G= (p.Gly928=)
c.2765G= (p.Gly922=)
c.2603G= (p.Gly868=)
c.2711G= (p.Gly904=)
c.2693G= (p.Gly898=)
c.2417G= (p.Gly806=)
n.2992G=
c.2585G= (p.Gly862=)
c.2399G= (p.Gly800=)
n.2995G=
c.2690G= (p.Gly897=)
c.2756G= (p.Gly919=)
c.2708G= (p.Gly903=)
c.2573G= (p.Gly858=)
16g.28835625G>TCA395408226ATXN2Lc.2762G>T (p.Gly921Val)
c.737G>T (p.Gly246Val)
n.3136G>T
c.2780G>T (p.Gly927Val)
c.1826G>T (n.1826G>T)
c.31G>T
c.740G>T (p.Gly247Val)
c.282G>T
c.2783G>T (p.Gly928Val)
c.2765G>T (p.Gly922Val)
c.2603G>T (p.Gly868Val)
c.2711G>T (p.Gly904Val)
c.2693G>T (p.Gly898Val)
c.2417G>T (p.Gly806Val)
n.2992G>T
c.2585G>T (p.Gly862Val)
c.2399G>T (p.Gly800Val)
n.2995G>T
c.2690G>T (p.Gly897Val)
c.2756G>T (p.Gly919Val)
c.2708G>T (p.Gly903Val)
c.2573G>T (p.Gly858Val)
16g.28835626C>ACA494868638ATXN2Lc.2763C>A (p.Gly921=)
c.738C>A (p.Gly246=)
n.3137C>A
c.2781C>A (p.Gly927=)
c.1827C>A (n.1827C>A)
c.32C>A
c.741C>A (p.Gly247=)
c.283C>A
c.2784C>A (p.Gly928=)
c.2766C>A (p.Gly922=)
c.2604C>A (p.Gly868=)
c.2712C>A (p.Gly904=)
c.2694C>A (p.Gly898=)
c.2418C>A (p.Gly806=)
n.2993C>A
c.2586C>A (p.Gly862=)
c.2400C>A (p.Gly800=)
n.2996C>A
c.2691C>A (p.Gly897=)
c.2757C>A (p.Gly919=)
c.2709C>A (p.Gly903=)
c.2574C>A (p.Gly858=)
16g.28835626C>GCA494868636ATXN2Lc.2763C>G (p.Gly921=)
c.738C>G (p.Gly246=)
n.3137C>G
c.2781C>G (p.Gly927=)
c.1827C>G (n.1827C>G)
c.32C>G
c.741C>G (p.Gly247=)
c.283C>G
c.2784C>G (p.Gly928=)
c.2766C>G (p.Gly922=)
c.2604C>G (p.Gly868=)
c.2712C>G (p.Gly904=)
c.2694C>G (p.Gly898=)
c.2418C>G (p.Gly806=)
n.2993C>G
c.2586C>G (p.Gly862=)
c.2400C>G (p.Gly800=)
n.2996C>G
c.2691C>G (p.Gly897=)
c.2757C>G (p.Gly919=)
c.2709C>G (p.Gly903=)
c.2574C>G (p.Gly858=)
16g.28835626C>TCA494868632ATXN2Lc.2763C>T (p.Gly921=)
c.738C>T (p.Gly246=)
n.3137C>T
c.2781C>T (p.Gly927=)
c.1827C>T (n.1827C>T)
c.32C>T
c.741C>T (p.Gly247=)
c.283C>T
c.2784C>T (p.Gly928=)
c.2766C>T (p.Gly922=)
c.2604C>T (p.Gly868=)
c.2712C>T (p.Gly904=)
c.2694C>T (p.Gly898=)
c.2418C>T (p.Gly806=)
n.2993C>T
c.2586C>T (p.Gly862=)
c.2400C>T (p.Gly800=)
n.2996C>T
c.2691C>T (p.Gly897=)
c.2757C>T (p.Gly919=)
c.2709C>T (p.Gly903=)
c.2574C>T (p.Gly858=)
16g.28835627A>CCA395408228ATXN2Lc.2764A>C (p.Thr922Pro)
c.739A>C (p.Thr247Pro)
n.3138A>C
c.2782A>C (p.Thr928Pro)
c.1828A>C (n.1828A>C)
c.33A>C
c.742A>C (p.Thr248Pro)
c.284A>C
c.2785A>C (p.Thr929Pro)
c.2767A>C (p.Thr923Pro)
c.2605A>C (p.Thr869Pro)
c.2713A>C (p.Thr905Pro)
c.2695A>C (p.Thr899Pro)
c.2419A>C (p.Thr807Pro)
n.2994A>C
c.2587A>C (p.Thr863Pro)
c.2401A>C (p.Thr801Pro)
n.2997A>C
c.2692A>C (p.Thr898Pro)
c.2758A>C (p.Thr920Pro)
c.2710A>C (p.Thr904Pro)
c.2575A>C (p.Thr859Pro)
16g.28835627A>GCA395408229ATXN2Lc.2764A>G (p.Thr922Ala)
c.739A>G (p.Thr247Ala)
n.3138A>G
c.2782A>G (p.Thr928Ala)
c.1828A>G (n.1828A>G)
c.33A>G
c.742A>G (p.Thr248Ala)
c.284A>G
c.2785A>G (p.Thr929Ala)
c.2767A>G (p.Thr923Ala)
c.2605A>G (p.Thr869Ala)
c.2713A>G (p.Thr905Ala)
c.2695A>G (p.Thr899Ala)
c.2419A>G (p.Thr807Ala)
n.2994A>G
c.2587A>G (p.Thr863Ala)
c.2401A>G (p.Thr801Ala)
n.2997A>G
c.2692A>G (p.Thr898Ala)
c.2758A>G (p.Thr920Ala)
c.2710A>G (p.Thr904Ala)
c.2575A>G (p.Thr859Ala)
16g.28835627A>TCA395408230ATXN2Lc.2764A>T (p.Thr922Ser)
c.739A>T (p.Thr247Ser)
n.3138A>T
c.2782A>T (p.Thr928Ser)
c.1828A>T (n.1828A>T)
c.33A>T
c.742A>T (p.Thr248Ser)
c.284A>T
c.2785A>T (p.Thr929Ser)
c.2767A>T (p.Thr923Ser)
c.2605A>T (p.Thr869Ser)
c.2713A>T (p.Thr905Ser)
c.2695A>T (p.Thr899Ser)
c.2419A>T (p.Thr807Ser)
n.2994A>T
c.2587A>T (p.Thr863Ser)
c.2401A>T (p.Thr801Ser)
n.2997A>T
c.2692A>T (p.Thr898Ser)
c.2758A>T (p.Thr920Ser)
c.2710A>T (p.Thr904Ser)
c.2575A>T (p.Thr859Ser)
16g.28835627_28835630delinsACGCCA2215806323ATXN2Lc.2764_2767delinsACGC (p.Thr922=)
c.739_742delinsACGC (p.Thr247=)
n.3138_3141delinsACGC
c.2782_2785delinsACGC (p.Thr928=)
c.1828_1831delinsACGC (n.1828_1831delinsACGC)
c.33_36delinsACGC
c.742_745delinsACGC (p.Thr248=)
c.284_287delinsACGC
c.2785_2788delinsACGC (p.Thr929=)
c.2767_2770delinsACGC (p.Thr923=)
c.2605_2608delinsACGC (p.Thr869=)
c.2713_2716delinsACGC (p.Thr905=)
c.2695_2698delinsACGC (p.Thr899=)
c.2419_2422delinsACGC (p.Thr807=)
n.2994_2997delinsACGC
c.2587_2590delinsACGC (p.Thr863=)
c.2401_2404delinsACGC (p.Thr801=)
n.2997_3000delinsACGC
c.2692_2695delinsACGC (p.Thr898=)
c.2758_2761delinsACGC (p.Thr920=)
c.2710_2713delinsACGC (p.Thr904=)
c.2575_2578delinsACGC (p.Thr859=)
16g.28835628C>ACA395408231ATXN2Lc.2765C>A (p.Thr922Lys)
c.740C>A (p.Thr247Lys)
n.3139C>A
c.2783C>A (p.Thr928Lys)
c.1829C>A (n.1829C>A)
c.34C>A
c.743C>A (p.Thr248Lys)
c.285C>A
c.2786C>A (p.Thr929Lys)
c.2768C>A (p.Thr923Lys)
c.2606C>A (p.Thr869Lys)
c.2714C>A (p.Thr905Lys)
c.2696C>A (p.Thr899Lys)
c.2420C>A (p.Thr807Lys)
n.2995C>A
c.2588C>A (p.Thr863Lys)
c.2402C>A (p.Thr801Lys)
n.2998C>A
c.2693C>A (p.Thr898Lys)
c.2759C>A (p.Thr920Lys)
c.2711C>A (p.Thr904Lys)
c.2576C>A (p.Thr859Lys)
 gnomAD v4
16g.28835628C=CA2215806327ATXN2Lc.2765C= (p.Thr922=)
c.740C= (p.Thr247=)
n.3139C=
c.2783C= (p.Thr928=)
c.1829C= (n.1829C=)
c.34C=
c.743C= (p.Thr248=)
c.285C=
c.2786C= (p.Thr929=)
c.2768C= (p.Thr923=)
c.2606C= (p.Thr869=)
c.2714C= (p.Thr905=)
c.2696C= (p.Thr899=)
c.2420C= (p.Thr807=)
n.2995C=
c.2588C= (p.Thr863=)
c.2402C= (p.Thr801=)
n.2998C=
c.2693C= (p.Thr898=)
c.2759C= (p.Thr920=)
c.2711C= (p.Thr904=)
c.2576C= (p.Thr859=)
16g.28835628C>GCA395408232ATXN2Lc.2765C>G (p.Thr922Arg)
c.740C>G (p.Thr247Arg)
n.3139C>G
c.2783C>G (p.Thr928Arg)
c.1829C>G (n.1829C>G)
c.34C>G
c.743C>G (p.Thr248Arg)
c.285C>G
c.2786C>G (p.Thr929Arg)
c.2768C>G (p.Thr923Arg)
c.2606C>G (p.Thr869Arg)
c.2714C>G (p.Thr905Arg)
c.2696C>G (p.Thr899Arg)
c.2420C>G (p.Thr807Arg)
n.2995C>G
c.2588C>G (p.Thr863Arg)
c.2402C>G (p.Thr801Arg)
n.2998C>G
c.2693C>G (p.Thr898Arg)
c.2759C>G (p.Thr920Arg)
c.2711C>G (p.Thr904Arg)
c.2576C>G (p.Thr859Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.28835628C>TCA279230754ATXN2Lc.2765C>T (p.Thr922Met)
c.740C>T (p.Thr247Met)
n.3139C>T
c.2783C>T (p.Thr928Met)
c.1829C>T (n.1829C>T)
c.34C>T
c.743C>T (p.Thr248Met)
c.285C>T
c.2786C>T (p.Thr929Met)
c.2768C>T (p.Thr923Met)
c.2606C>T (p.Thr869Met)
c.2714C>T (p.Thr905Met)
c.2696C>T (p.Thr899Met)
c.2420C>T (p.Thr807Met)
n.2995C>T
c.2588C>T (p.Thr863Met)
c.2402C>T (p.Thr801Met)
n.2998C>T
c.2693C>T (p.Thr898Met)
c.2759C>T (p.Thr920Met)
c.2711C>T (p.Thr904Met)
c.2576C>T (p.Thr859Met)
 dbSNP gnomAD v3 gnomAD v4
16g.28835632_28835634delCA719715198ATXN2Lc.2769_2771del (p.Pro924del)
c.744_746del (p.Pro249del)
n.3143_3145del
c.2787_2789del (p.Pro930del)
c.1833_1835del (n.1833_1835del)
c.38_40del
c.747_749del (p.Pro250del)
c.289_291del
c.2790_2792del (p.Pro931del)
c.2772_2774del (p.Pro925del)
c.2610_2612del (p.Pro871del)
c.2718_2720del (p.Pro907del)
c.2700_2702del (p.Pro901del)
c.2424_2426del (p.Pro809del)
n.2999_3001del
c.2592_2594del (p.Pro865del)
c.2406_2408del (p.Pro803del)
n.3002_3004del
c.2697_2699del (p.Pro900del)
c.2763_2765del (p.Pro922del)
c.2715_2717del (p.Pro906del)
c.2580_2582del (p.Pro861del)
 dbSNP
16g.28835629G>ACA7985089ATXN2Lc.2766G>A (p.Thr922=)
c.741G>A (p.Thr247=)
n.3140G>A
c.2784G>A (p.Thr928=)
c.1830G>A (n.1830G>A)
c.35G>A
c.744G>A (p.Thr248=)
c.286G>A
c.2787G>A (p.Thr929=)
c.2769G>A (p.Thr923=)
c.2607G>A (p.Thr869=)
c.2715G>A (p.Thr905=)
c.2697G>A (p.Thr899=)
c.2421G>A (p.Thr807=)
n.2996G>A
c.2589G>A (p.Thr863=)
c.2403G>A (p.Thr801=)
n.2999G>A
c.2694G>A (p.Thr898=)
c.2760G>A (p.Thr920=)
c.2712G>A (p.Thr904=)
c.2577G>A (p.Thr859=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835629G>CCA494868652ATXN2Lc.2766G>C (p.Thr922=)
c.741G>C (p.Thr247=)
n.3140G>C
c.2784G>C (p.Thr928=)
c.1830G>C (n.1830G>C)
c.35G>C
c.744G>C (p.Thr248=)
c.286G>C
c.2787G>C (p.Thr929=)
c.2769G>C (p.Thr923=)
c.2607G>C (p.Thr869=)
c.2715G>C (p.Thr905=)
c.2697G>C (p.Thr899=)
c.2421G>C (p.Thr807=)
n.2996G>C
c.2589G>C (p.Thr863=)
c.2403G>C (p.Thr801=)
n.2999G>C
c.2694G>C (p.Thr898=)
c.2760G>C (p.Thr920=)
c.2712G>C (p.Thr904=)
c.2577G>C (p.Thr859=)
16g.28835629G=CA2215806335ATXN2Lc.2766G= (p.Thr922=)
c.741G= (p.Thr247=)
n.3140G=
c.2784G= (p.Thr928=)
c.1830G= (n.1830G=)
c.35G=
c.744G= (p.Thr248=)
c.286G=
c.2787G= (p.Thr929=)
c.2769G= (p.Thr923=)
c.2607G= (p.Thr869=)
c.2715G= (p.Thr905=)
c.2697G= (p.Thr899=)
c.2421G= (p.Thr807=)
n.2996G=
c.2589G= (p.Thr863=)
c.2403G= (p.Thr801=)
n.2999G=
c.2694G= (p.Thr898=)
c.2760G= (p.Thr920=)
c.2712G= (p.Thr904=)
c.2577G= (p.Thr859=)
16g.28835629G>TCA494868651ATXN2Lc.2766G>T (p.Thr922=)
c.741G>T (p.Thr247=)
n.3140G>T
c.2784G>T (p.Thr928=)
c.1830G>T (n.1830G>T)
c.35G>T
c.744G>T (p.Thr248=)
c.286G>T
c.2787G>T (p.Thr929=)
c.2769G>T (p.Thr923=)
c.2607G>T (p.Thr869=)
c.2715G>T (p.Thr905=)
c.2697G>T (p.Thr899=)
c.2421G>T (p.Thr807=)
n.2996G>T
c.2589G>T (p.Thr863=)
c.2403G>T (p.Thr801=)
n.2999G>T
c.2694G>T (p.Thr898=)
c.2760G>T (p.Thr920=)
c.2712G>T (p.Thr904=)
c.2577G>T (p.Thr859=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835630C>ACA395408233ATXN2Lc.2767C>A (p.Pro923Thr)
c.742C>A (p.Pro248Thr)
n.3141C>A
c.2785C>A (p.Pro929Thr)
c.1831C>A (n.1831C>A)
c.36C>A
c.745C>A (p.Pro249Thr)
c.287C>A
c.2788C>A (p.Pro930Thr)
c.2770C>A (p.Pro924Thr)
c.2608C>A (p.Pro870Thr)
c.2716C>A (p.Pro906Thr)
c.2698C>A (p.Pro900Thr)
c.2422C>A (p.Pro808Thr)
n.2997C>A
c.2590C>A (p.Pro864Thr)
c.2404C>A (p.Pro802Thr)
n.3000C>A
c.2695C>A (p.Pro899Thr)
c.2761C>A (p.Pro921Thr)
c.2713C>A (p.Pro905Thr)
c.2578C>A (p.Pro860Thr)
16g.28835630C>GCA395408234ATXN2Lc.2767C>G (p.Pro923Ala)
c.742C>G (p.Pro248Ala)
n.3141C>G
c.2785C>G (p.Pro929Ala)
c.1831C>G (n.1831C>G)
c.36C>G
c.745C>G (p.Pro249Ala)
c.287C>G
c.2788C>G (p.Pro930Ala)
c.2770C>G (p.Pro924Ala)
c.2608C>G (p.Pro870Ala)
c.2716C>G (p.Pro906Ala)
c.2698C>G (p.Pro900Ala)
c.2422C>G (p.Pro808Ala)
n.2997C>G
c.2590C>G (p.Pro864Ala)
c.2404C>G (p.Pro802Ala)
n.3000C>G
c.2695C>G (p.Pro899Ala)
c.2761C>G (p.Pro921Ala)
c.2713C>G (p.Pro905Ala)
c.2578C>G (p.Pro860Ala)
16g.28835630C>TCA395408235ATXN2Lc.2767C>T (p.Pro923Ser)
c.742C>T (p.Pro248Ser)
n.3141C>T
c.2785C>T (p.Pro929Ser)
c.1831C>T (n.1831C>T)
c.36C>T
c.745C>T (p.Pro249Ser)
c.287C>T
c.2788C>T (p.Pro930Ser)
c.2770C>T (p.Pro924Ser)
c.2608C>T (p.Pro870Ser)
c.2716C>T (p.Pro906Ser)
c.2698C>T (p.Pro900Ser)
c.2422C>T (p.Pro808Ser)
n.2997C>T
c.2590C>T (p.Pro864Ser)
c.2404C>T (p.Pro802Ser)
n.3000C>T
c.2695C>T (p.Pro899Ser)
c.2761C>T (p.Pro921Ser)
c.2713C>T (p.Pro905Ser)
c.2578C>T (p.Pro860Ser)
16g.28835631C>ACA395408236ATXN2Lc.2768C>A (p.Pro923Gln)
c.743C>A (p.Pro248Gln)
n.3142C>A
c.2786C>A (p.Pro929Gln)
c.1832C>A (n.1832C>A)
c.37C>A
c.746C>A (p.Pro249Gln)
c.288C>A
c.2789C>A (p.Pro930Gln)
c.2771C>A (p.Pro924Gln)
c.2609C>A (p.Pro870Gln)
c.2717C>A (p.Pro906Gln)
c.2699C>A (p.Pro900Gln)
c.2423C>A (p.Pro808Gln)
n.2998C>A
c.2591C>A (p.Pro864Gln)
c.2405C>A (p.Pro802Gln)
n.3001C>A
c.2696C>A (p.Pro899Gln)
c.2762C>A (p.Pro921Gln)
c.2714C>A (p.Pro905Gln)
c.2579C>A (p.Pro860Gln)
 gnomAD v4
16g.28835631C=CA2215806341ATXN2Lc.2768C= (p.Pro923=)
c.743C= (p.Pro248=)
n.3142C=
c.2786C= (p.Pro929=)
c.1832C= (n.1832C=)
c.37C=
c.746C= (p.Pro249=)
c.288C=
c.2789C= (p.Pro930=)
c.2771C= (p.Pro924=)
c.2609C= (p.Pro870=)
c.2717C= (p.Pro906=)
c.2699C= (p.Pro900=)
c.2423C= (p.Pro808=)
n.2998C=
c.2591C= (p.Pro864=)
c.2405C= (p.Pro802=)
n.3001C=
c.2696C= (p.Pro899=)
c.2762C= (p.Pro921=)
c.2714C= (p.Pro905=)
c.2579C= (p.Pro860=)
16g.28835631C>GCA395408237ATXN2Lc.2768C>G (p.Pro923Arg)
c.743C>G (p.Pro248Arg)
n.3142C>G
c.2786C>G (p.Pro929Arg)
c.1832C>G (n.1832C>G)
c.37C>G
c.746C>G (p.Pro249Arg)
c.288C>G
c.2789C>G (p.Pro930Arg)
c.2771C>G (p.Pro924Arg)
c.2609C>G (p.Pro870Arg)
c.2717C>G (p.Pro906Arg)
c.2699C>G (p.Pro900Arg)
c.2423C>G (p.Pro808Arg)
n.2998C>G
c.2591C>G (p.Pro864Arg)
c.2405C>G (p.Pro802Arg)
n.3001C>G
c.2696C>G (p.Pro899Arg)
c.2762C>G (p.Pro921Arg)
c.2714C>G (p.Pro905Arg)
c.2579C>G (p.Pro860Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.28835631C>TCA395408238ATXN2Lc.2768C>T (p.Pro923Leu)
c.743C>T (p.Pro248Leu)
n.3142C>T
c.2786C>T (p.Pro929Leu)
c.1832C>T (n.1832C>T)
c.37C>T
c.746C>T (p.Pro249Leu)
c.288C>T
c.2789C>T (p.Pro930Leu)
c.2771C>T (p.Pro924Leu)
c.2609C>T (p.Pro870Leu)
c.2717C>T (p.Pro906Leu)
c.2699C>T (p.Pro900Leu)
c.2423C>T (p.Pro808Leu)
n.2998C>T
c.2591C>T (p.Pro864Leu)
c.2405C>T (p.Pro802Leu)
n.3001C>T
c.2696C>T (p.Pro899Leu)
c.2762C>T (p.Pro921Leu)
c.2714C>T (p.Pro905Leu)
c.2579C>T (p.Pro860Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.28835632G>ACA7985090ATXN2Lc.2769G>A (p.Pro923=)
c.744G>A (p.Pro248=)
n.3143G>A
c.2787G>A (p.Pro929=)
c.1833G>A (n.1833G>A)
c.38G>A
c.747G>A (p.Pro249=)
c.289G>A
c.2790G>A (p.Pro930=)
c.2772G>A (p.Pro924=)
c.2610G>A (p.Pro870=)
c.2718G>A (p.Pro906=)
c.2700G>A (p.Pro900=)
c.2424G>A (p.Pro808=)
n.2999G>A
c.2592G>A (p.Pro864=)
c.2406G>A (p.Pro802=)
n.3002G>A
c.2697G>A (p.Pro899=)
c.2763G>A (p.Pro921=)
c.2715G>A (p.Pro905=)
c.2580G>A (p.Pro860=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835632G>CCA494868679ATXN2Lc.2769G>C (p.Pro923=)
c.744G>C (p.Pro248=)
n.3143G>C
c.2787G>C (p.Pro929=)
c.1833G>C (n.1833G>C)
c.38G>C
c.747G>C (p.Pro249=)
c.289G>C
c.2790G>C (p.Pro930=)
c.2772G>C (p.Pro924=)
c.2610G>C (p.Pro870=)
c.2718G>C (p.Pro906=)
c.2700G>C (p.Pro900=)
c.2424G>C (p.Pro808=)
n.2999G>C
c.2592G>C (p.Pro864=)
c.2406G>C (p.Pro802=)
n.3002G>C
c.2697G>C (p.Pro899=)
c.2763G>C (p.Pro921=)
c.2715G>C (p.Pro905=)
c.2580G>C (p.Pro860=)
16g.28835632G=CA2215806348ATXN2Lc.2769G= (p.Pro923=)
c.744G= (p.Pro248=)
n.3143G=
c.2787G= (p.Pro929=)
c.1833G= (n.1833G=)
c.38G=
c.747G= (p.Pro249=)
c.289G=
c.2790G= (p.Pro930=)
c.2772G= (p.Pro924=)
c.2610G= (p.Pro870=)
c.2718G= (p.Pro906=)
c.2700G= (p.Pro900=)
c.2424G= (p.Pro808=)
n.2999G=
c.2592G= (p.Pro864=)
c.2406G= (p.Pro802=)
n.3002G=
c.2697G= (p.Pro899=)
c.2763G= (p.Pro921=)
c.2715G= (p.Pro905=)
c.2580G= (p.Pro860=)
16g.28835632G>TCA279230758ATXN2Lc.2769G>T (p.Pro923=)
c.744G>T (p.Pro248=)
n.3143G>T
c.2787G>T (p.Pro929=)
c.1833G>T (n.1833G>T)
c.38G>T
c.747G>T (p.Pro249=)
c.289G>T
c.2790G>T (p.Pro930=)
c.2772G>T (p.Pro924=)
c.2610G>T (p.Pro870=)
c.2718G>T (p.Pro906=)
c.2700G>T (p.Pro900=)
c.2424G>T (p.Pro808=)
n.2999G>T
c.2592G>T (p.Pro864=)
c.2406G>T (p.Pro802=)
n.3002G>T
c.2697G>T (p.Pro899=)
c.2763G>T (p.Pro921=)
c.2715G>T (p.Pro905=)
c.2580G>T (p.Pro860=)
 dbSNP
16g.28835633C>ACA395408240ATXN2Lc.2770C>A (p.Pro924Thr)
c.745C>A (p.Pro249Thr)
n.3144C>A
c.2788C>A (p.Pro930Thr)
c.1834C>A (n.1834C>A)
c.39C>A
c.748C>A (p.Pro250Thr)
c.290C>A
c.2791C>A (p.Pro931Thr)
c.2773C>A (p.Pro925Thr)
c.2611C>A (p.Pro871Thr)
c.2719C>A (p.Pro907Thr)
c.2701C>A (p.Pro901Thr)
c.2425C>A (p.Pro809Thr)
n.3000C>A
c.2593C>A (p.Pro865Thr)
c.2407C>A (p.Pro803Thr)
n.3003C>A
c.2698C>A (p.Pro900Thr)
c.2764C>A (p.Pro922Thr)
c.2716C>A (p.Pro906Thr)
c.2581C>A (p.Pro861Thr)
16g.28835633C>GCA395408241ATXN2Lc.2770C>G (p.Pro924Ala)
c.745C>G (p.Pro249Ala)
n.3144C>G
c.2788C>G (p.Pro930Ala)
c.1834C>G (n.1834C>G)
c.39C>G
c.748C>G (p.Pro250Ala)
c.290C>G
c.2791C>G (p.Pro931Ala)
c.2773C>G (p.Pro925Ala)
c.2611C>G (p.Pro871Ala)
c.2719C>G (p.Pro907Ala)
c.2701C>G (p.Pro901Ala)
c.2425C>G (p.Pro809Ala)
n.3000C>G
c.2593C>G (p.Pro865Ala)
c.2407C>G (p.Pro803Ala)
n.3003C>G
c.2698C>G (p.Pro900Ala)
c.2764C>G (p.Pro922Ala)
c.2716C>G (p.Pro906Ala)
c.2581C>G (p.Pro861Ala)
 COSMIC COSMIC COSMIC COSMIC
16g.28835633C>TCA395408239ATXN2Lc.2770C>T (p.Pro924Ser)
c.745C>T (p.Pro249Ser)
n.3144C>T
c.2788C>T (p.Pro930Ser)
c.1834C>T (n.1834C>T)
c.39C>T
c.748C>T (p.Pro250Ser)
c.290C>T
c.2791C>T (p.Pro931Ser)
c.2773C>T (p.Pro925Ser)
c.2611C>T (p.Pro871Ser)
c.2719C>T (p.Pro907Ser)
c.2701C>T (p.Pro901Ser)
c.2425C>T (p.Pro809Ser)
n.3000C>T
c.2593C>T (p.Pro865Ser)
c.2407C>T (p.Pro803Ser)
n.3003C>T
c.2698C>T (p.Pro900Ser)
c.2764C>T (p.Pro922Ser)
c.2716C>T (p.Pro906Ser)
c.2581C>T (p.Pro861Ser)
 gnomAD v4
16g.28835634C>ACA395408242ATXN2Lc.2771C>A (p.Pro924His)
c.746C>A (p.Pro249His)
n.3145C>A
c.2789C>A (p.Pro930His)
c.1835C>A (n.1835C>A)
c.40C>A
c.749C>A (p.Pro250His)
c.291C>A
c.2792C>A (p.Pro931His)
c.2774C>A (p.Pro925His)
c.2612C>A (p.Pro871His)
c.2720C>A (p.Pro907His)
c.2702C>A (p.Pro901His)
c.2426C>A (p.Pro809His)
n.3001C>A
c.2594C>A (p.Pro865His)
c.2408C>A (p.Pro803His)
n.3004C>A
c.2699C>A (p.Pro900His)
c.2765C>A (p.Pro922His)
c.2717C>A (p.Pro906His)
c.2582C>A (p.Pro861His)
16g.28835634C=CA2215806353ATXN2Lc.2771C= (p.Pro924=)
c.746C= (p.Pro249=)
n.3145C=
c.2789C= (p.Pro930=)
c.1835C= (n.1835C=)
c.40C=
c.749C= (p.Pro250=)
c.291C=
c.2792C= (p.Pro931=)
c.2774C= (p.Pro925=)
c.2612C= (p.Pro871=)
c.2720C= (p.Pro907=)
c.2702C= (p.Pro901=)
c.2426C= (p.Pro809=)
n.3001C=
c.2594C= (p.Pro865=)
c.2408C= (p.Pro803=)
n.3004C=
c.2699C= (p.Pro900=)
c.2765C= (p.Pro922=)
c.2717C= (p.Pro906=)
c.2582C= (p.Pro861=)
16g.28835634C>GCA395408243ATXN2Lc.2771C>G (p.Pro924Arg)
c.746C>G (p.Pro249Arg)
n.3145C>G
c.2789C>G (p.Pro930Arg)
c.1835C>G (n.1835C>G)
c.40C>G
c.749C>G (p.Pro250Arg)
c.291C>G
c.2792C>G (p.Pro931Arg)
c.2774C>G (p.Pro925Arg)
c.2612C>G (p.Pro871Arg)
c.2720C>G (p.Pro907Arg)
c.2702C>G (p.Pro901Arg)
c.2426C>G (p.Pro809Arg)
n.3001C>G
c.2594C>G (p.Pro865Arg)
c.2408C>G (p.Pro803Arg)
n.3004C>G
c.2699C>G (p.Pro900Arg)
c.2765C>G (p.Pro922Arg)
c.2717C>G (p.Pro906Arg)
c.2582C>G (p.Pro861Arg)
16g.28835634C>TCA395408244ATXN2Lc.2771C>T (p.Pro924Leu)
c.746C>T (p.Pro249Leu)
n.3145C>T
c.2789C>T (p.Pro930Leu)
c.1835C>T (n.1835C>T)
c.40C>T
c.749C>T (p.Pro250Leu)
c.291C>T
c.2792C>T (p.Pro931Leu)
c.2774C>T (p.Pro925Leu)
c.2612C>T (p.Pro871Leu)
c.2720C>T (p.Pro907Leu)
c.2702C>T (p.Pro901Leu)
c.2426C>T (p.Pro809Leu)
n.3001C>T
c.2594C>T (p.Pro865Leu)
c.2408C>T (p.Pro803Leu)
n.3004C>T
c.2699C>T (p.Pro900Leu)
c.2765C>T (p.Pro922Leu)
c.2717C>T (p.Pro906Leu)
c.2582C>T (p.Pro861Leu)
 dbSNP gnomAD v2
16g.28835635C>ACA494868702ATXN2Lc.2772C>A (p.Pro924=)
c.747C>A (p.Pro249=)
n.3146C>A
c.2790C>A (p.Pro930=)
c.1836C>A (n.1836C>A)
c.41C>A
c.750C>A (p.Pro250=)
c.292C>A
c.2793C>A (p.Pro931=)
c.2775C>A (p.Pro925=)
c.2613C>A (p.Pro871=)
c.2721C>A (p.Pro907=)
c.2703C>A (p.Pro901=)
c.2427C>A (p.Pro809=)
n.3002C>A
c.2595C>A (p.Pro865=)
c.2409C>A (p.Pro803=)
n.3005C>A
c.2700C>A (p.Pro900=)
c.2766C>A (p.Pro922=)
c.2718C>A (p.Pro906=)
c.2583C>A (p.Pro861=)
16g.28835635C=CA2215806356ATXN2Lc.2772C= (p.Pro924=)
c.747C= (p.Pro249=)
n.3146C=
c.2790C= (p.Pro930=)
c.1836C= (n.1836C=)
c.41C=
c.750C= (p.Pro250=)
c.292C=
c.2793C= (p.Pro931=)
c.2775C= (p.Pro925=)
c.2613C= (p.Pro871=)
c.2721C= (p.Pro907=)
c.2703C= (p.Pro901=)
c.2427C= (p.Pro809=)
n.3002C=
c.2595C= (p.Pro865=)
c.2409C= (p.Pro803=)
n.3005C=
c.2700C= (p.Pro900=)
c.2766C= (p.Pro922=)
c.2718C= (p.Pro906=)
c.2583C= (p.Pro861=)
16g.28835635C>GCA494868704ATXN2Lc.2772C>G (p.Pro924=)
c.747C>G (p.Pro249=)
n.3146C>G
c.2790C>G (p.Pro930=)
c.1836C>G (n.1836C>G)
c.41C>G
c.750C>G (p.Pro250=)
c.292C>G
c.2793C>G (p.Pro931=)
c.2775C>G (p.Pro925=)
c.2613C>G (p.Pro871=)
c.2721C>G (p.Pro907=)
c.2703C>G (p.Pro901=)
c.2427C>G (p.Pro809=)
n.3002C>G
c.2595C>G (p.Pro865=)
c.2409C>G (p.Pro803=)
n.3005C>G
c.2700C>G (p.Pro900=)
c.2766C>G (p.Pro922=)
c.2718C>G (p.Pro906=)
c.2583C>G (p.Pro861=)
16g.28835635C>TCA7985091ATXN2Lc.2772C>T (p.Pro924=)
c.747C>T (p.Pro249=)
n.3146C>T
c.2790C>T (p.Pro930=)
c.1836C>T (n.1836C>T)
c.41C>T
c.750C>T (p.Pro250=)
c.292C>T
c.2793C>T (p.Pro931=)
c.2775C>T (p.Pro925=)
c.2613C>T (p.Pro871=)
c.2721C>T (p.Pro907=)
c.2703C>T (p.Pro901=)
c.2427C>T (p.Pro809=)
n.3002C>T
c.2595C>T (p.Pro865=)
c.2409C>T (p.Pro803=)
n.3005C>T
c.2700C>T (p.Pro900=)
c.2766C>T (p.Pro922=)
c.2718C>T (p.Pro906=)
c.2583C>T (p.Pro861=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835636T>ACA395408245ATXN2Lc.2773T>A (p.Ser925Thr)
c.748T>A (p.Ser250Thr)
n.3147T>A
c.2791T>A (p.Ser931Thr)
c.1837T>A (n.1837T>A)
c.42T>A
c.751T>A (p.Ser251Thr)
c.293T>A
c.2794T>A (p.Ser932Thr)
c.2776T>A (p.Ser926Thr)
c.2614T>A (p.Ser872Thr)
c.2722T>A (p.Ser908Thr)
c.2704T>A (p.Ser902Thr)
c.2428T>A (p.Ser810Thr)
n.3003T>A
c.2596T>A (p.Ser866Thr)
c.2410T>A (p.Ser804Thr)
n.3006T>A
c.2701T>A (p.Ser901Thr)
c.2767T>A (p.Ser923Thr)
c.2719T>A (p.Ser907Thr)
c.2584T>A (p.Ser862Thr)
16g.28835636T>CCA395408246ATXN2Lc.2773T>C (p.Ser925Pro)
c.748T>C (p.Ser250Pro)
n.3147T>C
c.2791T>C (p.Ser931Pro)
c.1837T>C (n.1837T>C)
c.42T>C
c.751T>C (p.Ser251Pro)
c.293T>C
c.2794T>C (p.Ser932Pro)
c.2776T>C (p.Ser926Pro)
c.2614T>C (p.Ser872Pro)
c.2722T>C (p.Ser908Pro)
c.2704T>C (p.Ser902Pro)
c.2428T>C (p.Ser810Pro)
n.3003T>C
c.2596T>C (p.Ser866Pro)
c.2410T>C (p.Ser804Pro)
n.3006T>C
c.2701T>C (p.Ser901Pro)
c.2767T>C (p.Ser923Pro)
c.2719T>C (p.Ser907Pro)
c.2584T>C (p.Ser862Pro)
16g.28835636T>GCA395408247ATXN2Lc.2773T>G (p.Ser925Ala)
c.748T>G (p.Ser250Ala)
n.3147T>G
c.2791T>G (p.Ser931Ala)
c.1837T>G (n.1837T>G)
c.42T>G
c.751T>G (p.Ser251Ala)
c.293T>G
c.2794T>G (p.Ser932Ala)
c.2776T>G (p.Ser926Ala)
c.2614T>G (p.Ser872Ala)
c.2722T>G (p.Ser908Ala)
c.2704T>G (p.Ser902Ala)
c.2428T>G (p.Ser810Ala)
n.3003T>G
c.2596T>G (p.Ser866Ala)
c.2410T>G (p.Ser804Ala)
n.3006T>G
c.2701T>G (p.Ser901Ala)
c.2767T>G (p.Ser923Ala)
c.2719T>G (p.Ser907Ala)
c.2584T>G (p.Ser862Ala)
16g.28835637C>ACA395408248ATXN2Lc.2774C>A (p.Ser925Tyr)
c.749C>A (p.Ser250Tyr)
n.3148C>A
c.2792C>A (p.Ser931Tyr)
c.1838C>A (n.1838C>A)
c.43C>A
c.752C>A (p.Ser251Tyr)
c.294C>A
c.2795C>A (p.Ser932Tyr)
c.2777C>A (p.Ser926Tyr)
c.2615C>A (p.Ser872Tyr)
c.2723C>A (p.Ser908Tyr)
c.2705C>A (p.Ser902Tyr)
c.2429C>A (p.Ser810Tyr)
n.3004C>A
c.2597C>A (p.Ser866Tyr)
c.2411C>A (p.Ser804Tyr)
n.3007C>A
c.2702C>A (p.Ser901Tyr)
c.2768C>A (p.Ser923Tyr)
c.2720C>A (p.Ser907Tyr)
c.2585C>A (p.Ser862Tyr)
16g.28835637C>GCA395408249ATXN2Lc.2774C>G (p.Ser925Cys)
c.749C>G (p.Ser250Cys)
n.3148C>G
c.2792C>G (p.Ser931Cys)
c.1838C>G (n.1838C>G)
c.43C>G
c.752C>G (p.Ser251Cys)
c.294C>G
c.2795C>G (p.Ser932Cys)
c.2777C>G (p.Ser926Cys)
c.2615C>G (p.Ser872Cys)
c.2723C>G (p.Ser908Cys)
c.2705C>G (p.Ser902Cys)
c.2429C>G (p.Ser810Cys)
n.3004C>G
c.2597C>G (p.Ser866Cys)
c.2411C>G (p.Ser804Cys)
n.3007C>G
c.2702C>G (p.Ser901Cys)
c.2768C>G (p.Ser923Cys)
c.2720C>G (p.Ser907Cys)
c.2585C>G (p.Ser862Cys)
16g.28835637C>TCA395408250ATXN2Lc.2774C>T (p.Ser925Phe)
c.749C>T (p.Ser250Phe)
n.3148C>T
c.2792C>T (p.Ser931Phe)
c.1838C>T (n.1838C>T)
c.43C>T
c.752C>T (p.Ser251Phe)
c.294C>T
c.2795C>T (p.Ser932Phe)
c.2777C>T (p.Ser926Phe)
c.2615C>T (p.Ser872Phe)
c.2723C>T (p.Ser908Phe)
c.2705C>T (p.Ser902Phe)
c.2429C>T (p.Ser810Phe)
n.3004C>T
c.2597C>T (p.Ser866Phe)
c.2411C>T (p.Ser804Phe)
n.3007C>T
c.2702C>T (p.Ser901Phe)
c.2768C>T (p.Ser923Phe)
c.2720C>T (p.Ser907Phe)
c.2585C>T (p.Ser862Phe)
16g.28835638T>ACA494868723ATXN2Lc.2775T>A (p.Ser925=)
c.750T>A (p.Ser250=)
n.3149T>A
c.2793T>A (p.Ser931=)
c.1839T>A (n.1839T>A)
c.44T>A
c.753T>A (p.Ser251=)
c.295T>A
c.2796T>A (p.Ser932=)
c.2778T>A (p.Ser926=)
c.2616T>A (p.Ser872=)
c.2724T>A (p.Ser908=)
c.2706T>A (p.Ser902=)
c.2430T>A (p.Ser810=)
n.3005T>A
c.2598T>A (p.Ser866=)
c.2412T>A (p.Ser804=)
n.3008T>A
c.2703T>A (p.Ser901=)
c.2769T>A (p.Ser923=)
c.2721T>A (p.Ser907=)
c.2586T>A (p.Ser862=)
16g.28835638T>CCA494868724ATXN2Lc.2775T>C (p.Ser925=)
c.750T>C (p.Ser250=)
n.3149T>C
c.2793T>C (p.Ser931=)
c.1839T>C (n.1839T>C)
c.44T>C
c.753T>C (p.Ser251=)
c.295T>C
c.2796T>C (p.Ser932=)
c.2778T>C (p.Ser926=)
c.2616T>C (p.Ser872=)
c.2724T>C (p.Ser908=)
c.2706T>C (p.Ser902=)
c.2430T>C (p.Ser810=)
n.3005T>C
c.2598T>C (p.Ser866=)
c.2412T>C (p.Ser804=)
n.3008T>C
c.2703T>C (p.Ser901=)
c.2769T>C (p.Ser923=)
c.2721T>C (p.Ser907=)
c.2586T>C (p.Ser862=)
 dbSNP gnomAD v4
16g.28835638T>GCA494868727ATXN2Lc.2775T>G (p.Ser925=)
c.750T>G (p.Ser250=)
n.3149T>G
c.2793T>G (p.Ser931=)
c.1839T>G (n.1839T>G)
c.44T>G
c.753T>G (p.Ser251=)
c.295T>G
c.2796T>G (p.Ser932=)
c.2778T>G (p.Ser926=)
c.2616T>G (p.Ser872=)
c.2724T>G (p.Ser908=)
c.2706T>G (p.Ser902=)
c.2430T>G (p.Ser810=)
n.3005T>G
c.2598T>G (p.Ser866=)
c.2412T>G (p.Ser804=)
n.3008T>G
c.2703T>G (p.Ser901=)
c.2769T>G (p.Ser923=)
c.2721T>G (p.Ser907=)
c.2586T>G (p.Ser862=)
16g.28835638T=CA2215806359ATXN2Lc.2775T= (p.Ser925=)
c.750T= (p.Ser250=)
n.3149T=
c.2793T= (p.Ser931=)
c.1839T= (n.1839T=)
c.44T=
c.753T= (p.Ser251=)
c.295T=
c.2796T= (p.Ser932=)
c.2778T= (p.Ser926=)
c.2616T= (p.Ser872=)
c.2724T= (p.Ser908=)
c.2706T= (p.Ser902=)
c.2430T= (p.Ser810=)
n.3005T=
c.2598T= (p.Ser866=)
c.2412T= (p.Ser804=)
n.3008T=
c.2703T= (p.Ser901=)
c.2769T= (p.Ser923=)
c.2721T= (p.Ser907=)
c.2586T= (p.Ser862=)
16g.28835639C>ACA395408251ATXN2Lc.2776C>A (p.Leu926Met)
c.751C>A (p.Leu251Met)
n.3150C>A
c.2794C>A (p.Leu932Met)
c.1840C>A (n.1840C>A)
c.45C>A
c.754C>A (p.Leu252Met)
c.296C>A
c.2797C>A (p.Leu933Met)
c.2779C>A (p.Leu927Met)
c.2617C>A (p.Leu873Met)
c.2725C>A (p.Leu909Met)
c.2707C>A (p.Leu903Met)
c.2431C>A (p.Leu811Met)
n.3006C>A
c.2599C>A (p.Leu867Met)
c.2413C>A (p.Leu805Met)
n.3009C>A
c.2704C>A (p.Leu902Met)
c.2770C>A (p.Leu924Met)
c.2722C>A (p.Leu908Met)
c.2587C>A (p.Leu863Met)
16g.28835639C=CA2215806364ATXN2Lc.2776C= (p.Leu926=)
c.751C= (p.Leu251=)
n.3150C=
c.2794C= (p.Leu932=)
c.1840C= (n.1840C=)
c.45C=
c.754C= (p.Leu252=)
c.296C=
c.2797C= (p.Leu933=)
c.2779C= (p.Leu927=)
c.2617C= (p.Leu873=)
c.2725C= (p.Leu909=)
c.2707C= (p.Leu903=)
c.2431C= (p.Leu811=)
n.3006C=
c.2599C= (p.Leu867=)
c.2413C= (p.Leu805=)
n.3009C=
c.2704C= (p.Leu902=)
c.2770C= (p.Leu924=)
c.2722C= (p.Leu908=)
c.2587C= (p.Leu863=)
16g.28835639C>GCA395408252ATXN2Lc.2776C>G (p.Leu926Val)
c.751C>G (p.Leu251Val)
n.3150C>G
c.2794C>G (p.Leu932Val)
c.1840C>G (n.1840C>G)
c.45C>G
c.754C>G (p.Leu252Val)
c.296C>G
c.2797C>G (p.Leu933Val)
c.2779C>G (p.Leu927Val)
c.2617C>G (p.Leu873Val)
c.2725C>G (p.Leu909Val)
c.2707C>G (p.Leu903Val)
c.2431C>G (p.Leu811Val)
n.3006C>G
c.2599C>G (p.Leu867Val)
c.2413C>G (p.Leu805Val)
n.3009C>G
c.2704C>G (p.Leu902Val)
c.2770C>G (p.Leu924Val)
c.2722C>G (p.Leu908Val)
c.2587C>G (p.Leu863Val)
16g.28835639C>TCA494868737ATXN2Lc.2776C>T (p.Leu926=)
c.751C>T (p.Leu251=)
n.3150C>T
c.2794C>T (p.Leu932=)
c.1840C>T (n.1840C>T)
c.45C>T
c.754C>T (p.Leu252=)
c.296C>T
c.2797C>T (p.Leu933=)
c.2779C>T (p.Leu927=)
c.2617C>T (p.Leu873=)
c.2725C>T (p.Leu909=)
c.2707C>T (p.Leu903=)
c.2431C>T (p.Leu811=)
n.3006C>T
c.2599C>T (p.Leu867=)
c.2413C>T (p.Leu805=)
n.3009C>T
c.2704C>T (p.Leu902=)
c.2770C>T (p.Leu924=)
c.2722C>T (p.Leu908=)
c.2587C>T (p.Leu863=)
 dbSNP gnomAD v3 gnomAD v4
16g.28835640T>ACA395408255ATXN2Lc.2777T>A (p.Leu926Gln)
c.752T>A (p.Leu251Gln)
n.3151T>A
c.2795T>A (p.Leu932Gln)
c.1841T>A (n.1841T>A)
c.46T>A
c.755T>A (p.Leu252Gln)
c.297T>A
c.2798T>A (p.Leu933Gln)
c.2780T>A (p.Leu927Gln)
c.2618T>A (p.Leu873Gln)
c.2726T>A (p.Leu909Gln)
c.2708T>A (p.Leu903Gln)
c.2432T>A (p.Leu811Gln)
n.3007T>A
c.2600T>A (p.Leu867Gln)
c.2414T>A (p.Leu805Gln)
n.3010T>A
c.2705T>A (p.Leu902Gln)
c.2771T>A (p.Leu924Gln)
c.2723T>A (p.Leu908Gln)
c.2588T>A (p.Leu863Gln)
16g.28835640T>CCA395408254ATXN2Lc.2777T>C (p.Leu926Pro)
c.752T>C (p.Leu251Pro)
n.3151T>C
c.2795T>C (p.Leu932Pro)
c.1841T>C (n.1841T>C)
c.46T>C
c.755T>C (p.Leu252Pro)
c.297T>C
c.2798T>C (p.Leu933Pro)
c.2780T>C (p.Leu927Pro)
c.2618T>C (p.Leu873Pro)
c.2726T>C (p.Leu909Pro)
c.2708T>C (p.Leu903Pro)
c.2432T>C (p.Leu811Pro)
n.3007T>C
c.2600T>C (p.Leu867Pro)
c.2414T>C (p.Leu805Pro)
n.3010T>C
c.2705T>C (p.Leu902Pro)
c.2771T>C (p.Leu924Pro)
c.2723T>C (p.Leu908Pro)
c.2588T>C (p.Leu863Pro)
16g.28835640T>GCA395408253ATXN2Lc.2777T>G (p.Leu926Arg)
c.752T>G (p.Leu251Arg)
n.3151T>G
c.2795T>G (p.Leu932Arg)
c.1841T>G (n.1841T>G)
c.46T>G
c.755T>G (p.Leu252Arg)
c.297T>G
c.2798T>G (p.Leu933Arg)
c.2780T>G (p.Leu927Arg)
c.2618T>G (p.Leu873Arg)
c.2726T>G (p.Leu909Arg)
c.2708T>G (p.Leu903Arg)
c.2432T>G (p.Leu811Arg)
n.3007T>G
c.2600T>G (p.Leu867Arg)
c.2414T>G (p.Leu805Arg)
n.3010T>G
c.2705T>G (p.Leu902Arg)
c.2771T>G (p.Leu924Arg)
c.2723T>G (p.Leu908Arg)
c.2588T>G (p.Leu863Arg)
16g.28835641G>ACA494868748ATXN2Lc.2778G>A (p.Leu926=)
c.753G>A (p.Leu251=)
n.3152G>A
c.2796G>A (p.Leu932=)
c.1842G>A (n.1842G>A)
c.47G>A
c.756G>A (p.Leu252=)
c.298G>A
c.2799G>A (p.Leu933=)
c.2781G>A (p.Leu927=)
c.2619G>A (p.Leu873=)
c.2727G>A (p.Leu909=)
c.2709G>A (p.Leu903=)
c.2433G>A (p.Leu811=)
n.3008G>A
c.2601G>A (p.Leu867=)
c.2415G>A (p.Leu805=)
n.3011G>A
c.2706G>A (p.Leu902=)
c.2772G>A (p.Leu924=)
c.2724G>A (p.Leu908=)
c.2589G>A (p.Leu863=)
 dbSNP
16g.28835641G>CCA494868752ATXN2Lc.2778G>C (p.Leu926=)
c.753G>C (p.Leu251=)
n.3152G>C
c.2796G>C (p.Leu932=)
c.1842G>C (n.1842G>C)
c.47G>C
c.756G>C (p.Leu252=)
c.298G>C
c.2799G>C (p.Leu933=)
c.2781G>C (p.Leu927=)
c.2619G>C (p.Leu873=)
c.2727G>C (p.Leu909=)
c.2709G>C (p.Leu903=)
c.2433G>C (p.Leu811=)
n.3008G>C
c.2601G>C (p.Leu867=)
c.2415G>C (p.Leu805=)
n.3011G>C
c.2706G>C (p.Leu902=)
c.2772G>C (p.Leu924=)
c.2724G>C (p.Leu908=)
c.2589G>C (p.Leu863=)
16g.28835641G=CA2215806368ATXN2Lc.2778G= (p.Leu926=)
c.753G= (p.Leu251=)
n.3152G=
c.2796G= (p.Leu932=)
c.1842G= (n.1842G=)
c.47G=
c.756G= (p.Leu252=)
c.298G=
c.2799G= (p.Leu933=)
c.2781G= (p.Leu927=)
c.2619G= (p.Leu873=)
c.2727G= (p.Leu909=)
c.2709G= (p.Leu903=)
c.2433G= (p.Leu811=)
n.3008G=
c.2601G= (p.Leu867=)
c.2415G= (p.Leu805=)
n.3011G=
c.2706G= (p.Leu902=)
c.2772G= (p.Leu924=)
c.2724G= (p.Leu908=)
c.2589G= (p.Leu863=)
16g.28835641G>TCA494868754ATXN2Lc.2778G>T (p.Leu926=)
c.753G>T (p.Leu251=)
n.3152G>T
c.2796G>T (p.Leu932=)
c.1842G>T (n.1842G>T)
c.47G>T
c.756G>T (p.Leu252=)
c.298G>T
c.2799G>T (p.Leu933=)
c.2781G>T (p.Leu927=)
c.2619G>T (p.Leu873=)
c.2727G>T (p.Leu909=)
c.2709G>T (p.Leu903=)
c.2433G>T (p.Leu811=)
n.3008G>T
c.2601G>T (p.Leu867=)
c.2415G>T (p.Leu805=)
n.3011G>T
c.2706G>T (p.Leu902=)
c.2772G>T (p.Leu924=)
c.2724G>T (p.Leu908=)
c.2589G>T (p.Leu863=)
16g.28835642C>ACA395408256ATXN2Lc.2779C>A (p.Pro927Thr)
c.754C>A (p.Pro252Thr)
n.3153C>A
c.2797C>A (p.Pro933Thr)
c.1843C>A (n.1843C>A)
c.48C>A
c.757C>A (p.Pro253Thr)
c.299C>A
c.2800C>A (p.Pro934Thr)
c.2782C>A (p.Pro928Thr)
c.2620C>A (p.Pro874Thr)
c.2728C>A (p.Pro910Thr)
c.2710C>A (p.Pro904Thr)
c.2434C>A (p.Pro812Thr)
n.3009C>A
c.2602C>A (p.Pro868Thr)
c.2416C>A (p.Pro806Thr)
n.3012C>A
c.2707C>A (p.Pro903Thr)
c.2773C>A (p.Pro925Thr)
c.2725C>A (p.Pro909Thr)
c.2590C>A (p.Pro864Thr)
 gnomAD v4
16g.28835642C>GCA395408257ATXN2Lc.2779C>G (p.Pro927Ala)
c.754C>G (p.Pro252Ala)
n.3153C>G
c.2797C>G (p.Pro933Ala)
c.1843C>G (n.1843C>G)
c.48C>G
c.757C>G (p.Pro253Ala)
c.299C>G
c.2800C>G (p.Pro934Ala)
c.2782C>G (p.Pro928Ala)
c.2620C>G (p.Pro874Ala)
c.2728C>G (p.Pro910Ala)
c.2710C>G (p.Pro904Ala)
c.2434C>G (p.Pro812Ala)
n.3009C>G
c.2602C>G (p.Pro868Ala)
c.2416C>G (p.Pro806Ala)
n.3012C>G
c.2707C>G (p.Pro903Ala)
c.2773C>G (p.Pro925Ala)
c.2725C>G (p.Pro909Ala)
c.2590C>G (p.Pro864Ala)
 gnomAD v4
16g.28835642C>TCA395408258ATXN2Lc.2779C>T (p.Pro927Ser)
c.754C>T (p.Pro252Ser)
n.3153C>T
c.2797C>T (p.Pro933Ser)
c.1843C>T (n.1843C>T)
c.48C>T
c.757C>T (p.Pro253Ser)
c.299C>T
c.2800C>T (p.Pro934Ser)
c.2782C>T (p.Pro928Ser)
c.2620C>T (p.Pro874Ser)
c.2728C>T (p.Pro910Ser)
c.2710C>T (p.Pro904Ser)
c.2434C>T (p.Pro812Ser)
n.3009C>T
c.2602C>T (p.Pro868Ser)
c.2416C>T (p.Pro806Ser)
n.3012C>T
c.2707C>T (p.Pro903Ser)
c.2773C>T (p.Pro925Ser)
c.2725C>T (p.Pro909Ser)
c.2590C>T (p.Pro864Ser)
16g.28835643C>ACA395408259ATXN2Lc.2780C>A (p.Pro927Gln)
c.755C>A (p.Pro252Gln)
n.3154C>A
c.2798C>A (p.Pro933Gln)
c.1844C>A (n.1844C>A)
c.49C>A
c.758C>A (p.Pro253Gln)
c.300C>A
c.2801C>A (p.Pro934Gln)
c.2783C>A (p.Pro928Gln)
c.2621C>A (p.Pro874Gln)
c.2729C>A (p.Pro910Gln)
c.2711C>A (p.Pro904Gln)
c.2435C>A (p.Pro812Gln)
n.3010C>A
c.2603C>A (p.Pro868Gln)
c.2417C>A (p.Pro806Gln)
n.3013C>A
c.2708C>A (p.Pro903Gln)
c.2774C>A (p.Pro925Gln)
c.2726C>A (p.Pro909Gln)
c.2591C>A (p.Pro864Gln)
16g.28835643C=CA2215806372ATXN2Lc.2780C= (p.Pro927=)
c.755C= (p.Pro252=)
n.3154C=
c.2798C= (p.Pro933=)
c.1844C= (n.1844C=)
c.49C=
c.758C= (p.Pro253=)
c.300C=
c.2801C= (p.Pro934=)
c.2783C= (p.Pro928=)
c.2621C= (p.Pro874=)
c.2729C= (p.Pro910=)
c.2711C= (p.Pro904=)
c.2435C= (p.Pro812=)
n.3010C=
c.2603C= (p.Pro868=)
c.2417C= (p.Pro806=)
n.3013C=
c.2708C= (p.Pro903=)
c.2774C= (p.Pro925=)
c.2726C= (p.Pro909=)
c.2591C= (p.Pro864=)
16g.28835643C>GCA395408260ATXN2Lc.2780C>G (p.Pro927Arg)
c.755C>G (p.Pro252Arg)
n.3154C>G
c.2798C>G (p.Pro933Arg)
c.1844C>G (n.1844C>G)
c.49C>G
c.758C>G (p.Pro253Arg)
c.300C>G
c.2801C>G (p.Pro934Arg)
c.2783C>G (p.Pro928Arg)
c.2621C>G (p.Pro874Arg)
c.2729C>G (p.Pro910Arg)
c.2711C>G (p.Pro904Arg)
c.2435C>G (p.Pro812Arg)
n.3010C>G
c.2603C>G (p.Pro868Arg)
c.2417C>G (p.Pro806Arg)
n.3013C>G
c.2708C>G (p.Pro903Arg)
c.2774C>G (p.Pro925Arg)
c.2726C>G (p.Pro909Arg)
c.2591C>G (p.Pro864Arg)
16g.28835643C>TCA395408261ATXN2Lc.2780C>T (p.Pro927Leu)
c.755C>T (p.Pro252Leu)
n.3154C>T
c.2798C>T (p.Pro933Leu)
c.1844C>T (n.1844C>T)
c.49C>T
c.758C>T (p.Pro253Leu)
c.300C>T
c.2801C>T (p.Pro934Leu)
c.2783C>T (p.Pro928Leu)
c.2621C>T (p.Pro874Leu)
c.2729C>T (p.Pro910Leu)
c.2711C>T (p.Pro904Leu)
c.2435C>T (p.Pro812Leu)
n.3010C>T
c.2603C>T (p.Pro868Leu)
c.2417C>T (p.Pro806Leu)
n.3013C>T
c.2708C>T (p.Pro903Leu)
c.2774C>T (p.Pro925Leu)
c.2726C>T (p.Pro909Leu)
c.2591C>T (p.Pro864Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.28835644A=CA2215806375ATXN2Lc.2781A= (p.Pro927=)
c.756A= (p.Pro252=)
n.3155A=
c.2799A= (p.Pro933=)
c.1845A= (n.1845A=)
c.50A=
c.759A= (p.Pro253=)
c.301A=
c.2802A= (p.Pro934=)
c.2784A= (p.Pro928=)
c.2622A= (p.Pro874=)
c.2730A= (p.Pro910=)
c.2712A= (p.Pro904=)
c.2436A= (p.Pro812=)
n.3011A=
c.2604A= (p.Pro868=)
c.2418A= (p.Pro806=)
n.3014A=
c.2709A= (p.Pro903=)
c.2775A= (p.Pro925=)
c.2727A= (p.Pro909=)
c.2592A= (p.Pro864=)
16g.28835644A>CCA7985092ATXN2Lc.2781A>C (p.Pro927=)
c.756A>C (p.Pro252=)
n.3155A>C
c.2799A>C (p.Pro933=)
c.1845A>C (n.1845A>C)
c.50A>C
c.759A>C (p.Pro253=)
c.301A>C
c.2802A>C (p.Pro934=)
c.2784A>C (p.Pro928=)
c.2622A>C (p.Pro874=)
c.2730A>C (p.Pro910=)
c.2712A>C (p.Pro904=)
c.2436A>C (p.Pro812=)
n.3011A>C
c.2604A>C (p.Pro868=)
c.2418A>C (p.Pro806=)
n.3014A>C
c.2709A>C (p.Pro903=)
c.2775A>C (p.Pro925=)
c.2727A>C (p.Pro909=)
c.2592A>C (p.Pro864=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835644A>GCA494868777ATXN2Lc.2781A>G (p.Pro927=)
c.756A>G (p.Pro252=)
n.3155A>G
c.2799A>G (p.Pro933=)
c.1845A>G (n.1845A>G)
c.50A>G
c.759A>G (p.Pro253=)
c.301A>G
c.2802A>G (p.Pro934=)
c.2784A>G (p.Pro928=)
c.2622A>G (p.Pro874=)
c.2730A>G (p.Pro910=)
c.2712A>G (p.Pro904=)
c.2436A>G (p.Pro812=)
n.3011A>G
c.2604A>G (p.Pro868=)
c.2418A>G (p.Pro806=)
n.3014A>G
c.2709A>G (p.Pro903=)
c.2775A>G (p.Pro925=)
c.2727A>G (p.Pro909=)
c.2592A>G (p.Pro864=)
16g.28835644A>TCA494868778ATXN2Lc.2781A>T (p.Pro927=)
c.756A>T (p.Pro252=)
n.3155A>T
c.2799A>T (p.Pro933=)
c.1845A>T (n.1845A>T)
c.50A>T
c.759A>T (p.Pro253=)
c.301A>T
c.2802A>T (p.Pro934=)
c.2784A>T (p.Pro928=)
c.2622A>T (p.Pro874=)
c.2730A>T (p.Pro910=)
c.2712A>T (p.Pro904=)
c.2436A>T (p.Pro812=)
n.3011A>T
c.2604A>T (p.Pro868=)
c.2418A>T (p.Pro806=)
n.3014A>T
c.2709A>T (p.Pro903=)
c.2775A>T (p.Pro925=)
c.2727A>T (p.Pro909=)
c.2592A>T (p.Pro864=)
16g.28835645C>ACA395408262ATXN2Lc.2782C>A (p.Pro928Thr)
c.757C>A (p.Pro253Thr)
n.3156C>A
c.2800C>A (p.Pro934Thr)
c.1846C>A (n.1846C>A)
c.51C>A
c.760C>A (p.Pro254Thr)
c.302C>A
c.2803C>A (p.Pro935Thr)
c.2785C>A (p.Pro929Thr)
c.2623C>A (p.Pro875Thr)
c.2731C>A (p.Pro911Thr)
c.2713C>A (p.Pro905Thr)
c.2437C>A (p.Pro813Thr)
n.3012C>A
c.2605C>A (p.Pro869Thr)
c.2419C>A (p.Pro807Thr)
n.3015C>A
c.2710C>A (p.Pro904Thr)
c.2776C>A (p.Pro926Thr)
c.2728C>A (p.Pro910Thr)
c.2593C>A (p.Pro865Thr)
16g.28835645C>GCA395408263ATXN2Lc.2782C>G (p.Pro928Ala)
c.757C>G (p.Pro253Ala)
n.3156C>G
c.2800C>G (p.Pro934Ala)
c.1846C>G (n.1846C>G)
c.51C>G
c.760C>G (p.Pro254Ala)
c.302C>G
c.2803C>G (p.Pro935Ala)
c.2785C>G (p.Pro929Ala)
c.2623C>G (p.Pro875Ala)
c.2731C>G (p.Pro911Ala)
c.2713C>G (p.Pro905Ala)
c.2437C>G (p.Pro813Ala)
n.3012C>G
c.2605C>G (p.Pro869Ala)
c.2419C>G (p.Pro807Ala)
n.3015C>G
c.2710C>G (p.Pro904Ala)
c.2776C>G (p.Pro926Ala)
c.2728C>G (p.Pro910Ala)
c.2593C>G (p.Pro865Ala)
16g.28835645C>TCA395408264ATXN2Lc.2782C>T (p.Pro928Ser)
c.757C>T (p.Pro253Ser)
n.3156C>T
c.2800C>T (p.Pro934Ser)
c.1846C>T (n.1846C>T)
c.51C>T
c.760C>T (p.Pro254Ser)
c.302C>T
c.2803C>T (p.Pro935Ser)
c.2785C>T (p.Pro929Ser)
c.2623C>T (p.Pro875Ser)
c.2731C>T (p.Pro911Ser)
c.2713C>T (p.Pro905Ser)
c.2437C>T (p.Pro813Ser)
n.3012C>T
c.2605C>T (p.Pro869Ser)
c.2419C>T (p.Pro807Ser)
n.3015C>T
c.2710C>T (p.Pro904Ser)
c.2776C>T (p.Pro926Ser)
c.2728C>T (p.Pro910Ser)
c.2593C>T (p.Pro865Ser)
 gnomAD v4
16g.28835646C>ACA7985093ATXN2Lc.2783C>A (p.Pro928Gln)
c.758C>A (p.Pro253Gln)
n.3157C>A
c.2801C>A (p.Pro934Gln)
c.1847C>A (n.1847C>A)
c.52C>A
c.761C>A (p.Pro254Gln)
c.303C>A
c.2804C>A (p.Pro935Gln)
c.2786C>A (p.Pro929Gln)
c.2624C>A (p.Pro875Gln)
c.2732C>A (p.Pro911Gln)
c.2714C>A (p.Pro905Gln)
c.2438C>A (p.Pro813Gln)
n.3013C>A
c.2606C>A (p.Pro869Gln)
c.2420C>A (p.Pro807Gln)
n.3016C>A
c.2711C>A (p.Pro904Gln)
c.2777C>A (p.Pro926Gln)
c.2729C>A (p.Pro910Gln)
c.2594C>A (p.Pro865Gln)
 dbSNP ExAC gnomAD v2
16g.28835646C=CA2215806378ATXN2Lc.2783C= (p.Pro928=)
c.758C= (p.Pro253=)
n.3157C=
c.2801C= (p.Pro934=)
c.1847C= (n.1847C=)
c.52C=
c.761C= (p.Pro254=)
c.303C=
c.2804C= (p.Pro935=)
c.2786C= (p.Pro929=)
c.2624C= (p.Pro875=)
c.2732C= (p.Pro911=)
c.2714C= (p.Pro905=)
c.2438C= (p.Pro813=)
n.3013C=
c.2606C= (p.Pro869=)
c.2420C= (p.Pro807=)
n.3016C=
c.2711C= (p.Pro904=)
c.2777C= (p.Pro926=)
c.2729C= (p.Pro910=)
c.2594C= (p.Pro865=)
16g.28835646C>GCA395408265ATXN2Lc.2783C>G (p.Pro928Arg)
c.758C>G (p.Pro253Arg)
n.3157C>G
c.2801C>G (p.Pro934Arg)
c.1847C>G (n.1847C>G)
c.52C>G
c.761C>G (p.Pro254Arg)
c.303C>G
c.2804C>G (p.Pro935Arg)
c.2786C>G (p.Pro929Arg)
c.2624C>G (p.Pro875Arg)
c.2732C>G (p.Pro911Arg)
c.2714C>G (p.Pro905Arg)
c.2438C>G (p.Pro813Arg)
n.3013C>G
c.2606C>G (p.Pro869Arg)
c.2420C>G (p.Pro807Arg)
n.3016C>G
c.2711C>G (p.Pro904Arg)
c.2777C>G (p.Pro926Arg)
c.2729C>G (p.Pro910Arg)
c.2594C>G (p.Pro865Arg)
16g.28835646C>TCA395408266ATXN2Lc.2783C>T (p.Pro928Leu)
c.758C>T (p.Pro253Leu)
n.3157C>T
c.2801C>T (p.Pro934Leu)
c.1847C>T (n.1847C>T)
c.52C>T
c.761C>T (p.Pro254Leu)
c.303C>T
c.2804C>T (p.Pro935Leu)
c.2786C>T (p.Pro929Leu)
c.2624C>T (p.Pro875Leu)
c.2732C>T (p.Pro911Leu)
c.2714C>T (p.Pro905Leu)
c.2438C>T (p.Pro813Leu)
n.3013C>T
c.2606C>T (p.Pro869Leu)
c.2420C>T (p.Pro807Leu)
n.3016C>T
c.2711C>T (p.Pro904Leu)
c.2777C>T (p.Pro926Leu)
c.2729C>T (p.Pro910Leu)
c.2594C>T (p.Pro865Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835647G>ACA494868798ATXN2Lc.2784G>A (p.Pro928=)
c.759G>A (p.Pro253=)
n.3158G>A
c.2802G>A (p.Pro934=)
c.1848G>A (n.1848G>A)
c.53G>A
c.762G>A (p.Pro254=)
c.304G>A
c.2805G>A (p.Pro935=)
c.2787G>A (p.Pro929=)
c.2625G>A (p.Pro875=)
c.2733G>A (p.Pro911=)
c.2715G>A (p.Pro905=)
c.2439G>A (p.Pro813=)
n.3014G>A
c.2607G>A (p.Pro869=)
c.2421G>A (p.Pro807=)
n.3017G>A
c.2712G>A (p.Pro904=)
c.2778G>A (p.Pro926=)
c.2730G>A (p.Pro910=)
c.2595G>A (p.Pro865=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.28835647G>CCA494868800ATXN2Lc.2784G>C (p.Pro928=)
c.759G>C (p.Pro253=)
n.3158G>C
c.2802G>C (p.Pro934=)
c.1848G>C (n.1848G>C)
c.53G>C
c.762G>C (p.Pro254=)
c.304G>C
c.2805G>C (p.Pro935=)
c.2787G>C (p.Pro929=)
c.2625G>C (p.Pro875=)
c.2733G>C (p.Pro911=)
c.2715G>C (p.Pro905=)
c.2439G>C (p.Pro813=)
n.3014G>C
c.2607G>C (p.Pro869=)
c.2421G>C (p.Pro807=)
n.3017G>C
c.2712G>C (p.Pro904=)
c.2778G>C (p.Pro926=)
c.2730G>C (p.Pro910=)
c.2595G>C (p.Pro865=)
16g.28835647G=CA2215806385ATXN2Lc.2784G= (p.Pro928=)
c.759G= (p.Pro253=)
n.3158G=
c.2802G= (p.Pro934=)
c.1848G= (n.1848G=)
c.53G=
c.762G= (p.Pro254=)
c.304G=
c.2805G= (p.Pro935=)
c.2787G= (p.Pro929=)
c.2625G= (p.Pro875=)
c.2733G= (p.Pro911=)
c.2715G= (p.Pro905=)
c.2439G= (p.Pro813=)
n.3014G=
c.2607G= (p.Pro869=)
c.2421G= (p.Pro807=)
n.3017G=
c.2712G= (p.Pro904=)
c.2778G= (p.Pro926=)
c.2730G= (p.Pro910=)
c.2595G= (p.Pro865=)
16g.28835647G>TCA494868795ATXN2Lc.2784G>T (p.Pro928=)
c.759G>T (p.Pro253=)
n.3158G>T
c.2802G>T (p.Pro934=)
c.1848G>T (n.1848G>T)
c.53G>T
c.762G>T (p.Pro254=)
c.304G>T
c.2805G>T (p.Pro935=)
c.2787G>T (p.Pro929=)
c.2625G>T (p.Pro875=)
c.2733G>T (p.Pro911=)
c.2715G>T (p.Pro905=)
c.2439G>T (p.Pro813=)
n.3014G>T
c.2607G>T (p.Pro869=)
c.2421G>T (p.Pro807=)
n.3017G>T
c.2712G>T (p.Pro904=)
c.2778G>T (p.Pro926=)
c.2730G>T (p.Pro910=)
c.2595G>T (p.Pro865=)
 gnomAD v4
16g.28835648G>ACA395408269ATXN2Lc.2785G>A (p.Gly929Arg)
c.760G>A (p.Gly254Arg)
n.3159G>A
c.2803G>A (p.Gly935Arg)
c.1849G>A (n.1849G>A)
c.54G>A
c.763G>A (p.Gly255Arg)
c.305G>A
c.2806G>A (p.Gly936Arg)
c.2788G>A (p.Gly930Arg)
c.2626G>A (p.Gly876Arg)
c.2734G>A (p.Gly912Arg)
c.2716G>A (p.Gly906Arg)
c.2440G>A (p.Gly814Arg)
n.3015G>A
c.2608G>A (p.Gly870Arg)
c.2422G>A (p.Gly808Arg)
n.3018G>A
c.2713G>A (p.Gly905Arg)
c.2779G>A (p.Gly927Arg)
c.2731G>A (p.Gly911Arg)
c.2596G>A (p.Gly866Arg)
16g.28835648G>CCA395408268ATXN2Lc.2785G>C (p.Gly929Arg)
c.760G>C (p.Gly254Arg)
n.3159G>C
c.2803G>C (p.Gly935Arg)
c.1849G>C (n.1849G>C)
c.54G>C
c.763G>C (p.Gly255Arg)
c.305G>C
c.2806G>C (p.Gly936Arg)
c.2788G>C (p.Gly930Arg)
c.2626G>C (p.Gly876Arg)
c.2734G>C (p.Gly912Arg)
c.2716G>C (p.Gly906Arg)
c.2440G>C (p.Gly814Arg)
n.3015G>C
c.2608G>C (p.Gly870Arg)
c.2422G>C (p.Gly808Arg)
n.3018G>C
c.2713G>C (p.Gly905Arg)
c.2779G>C (p.Gly927Arg)
c.2731G>C (p.Gly911Arg)
c.2596G>C (p.Gly866Arg)
16g.28835648G>TCA395408267ATXN2Lc.2785G>T (p.Gly929Ter)
c.760G>T (p.Gly254Ter)
n.3159G>T
c.2803G>T (p.Gly935Ter)
c.1849G>T (n.1849G>T)
c.54G>T
c.763G>T (p.Gly255Ter)
c.305G>T
c.2806G>T (p.Gly936Ter)
c.2788G>T (p.Gly930Ter)
c.2626G>T (p.Gly876Ter)
c.2734G>T (p.Gly912Ter)
c.2716G>T (p.Gly906Ter)
c.2440G>T (p.Gly814Ter)
n.3015G>T
c.2608G>T (p.Gly870Ter)
c.2422G>T (p.Gly808Ter)
n.3018G>T
c.2713G>T (p.Gly905Ter)
c.2779G>T (p.Gly927Ter)
c.2731G>T (p.Gly911Ter)
c.2596G>T (p.Gly866Ter)
16g.28835649G>ACA395408270ATXN2Lc.2786G>A (p.Gly929Glu)
c.761G>A (p.Gly254Glu)
n.3160G>A
c.2804G>A (p.Gly935Glu)
c.1850G>A (n.1850G>A)
c.55G>A
c.764G>A (p.Gly255Glu)
c.306G>A
c.2807G>A (p.Gly936Glu)
c.2789G>A (p.Gly930Glu)
c.2627G>A (p.Gly876Glu)
c.2735G>A (p.Gly912Glu)
c.2717G>A (p.Gly906Glu)
c.2441G>A (p.Gly814Glu)
n.3016G>A
c.2609G>A (p.Gly870Glu)
c.2423G>A (p.Gly808Glu)
n.3019G>A
c.2714G>A (p.Gly905Glu)
c.2780G>A (p.Gly927Glu)
c.2732G>A (p.Gly911Glu)
c.2597G>A (p.Gly866Glu)
16g.28835649G>CCA395408272ATXN2Lc.2786G>C (p.Gly929Ala)
c.761G>C (p.Gly254Ala)
n.3160G>C
c.2804G>C (p.Gly935Ala)
c.1850G>C (n.1850G>C)
c.55G>C
c.764G>C (p.Gly255Ala)
c.306G>C
c.2807G>C (p.Gly936Ala)
c.2789G>C (p.Gly930Ala)
c.2627G>C (p.Gly876Ala)
c.2735G>C (p.Gly912Ala)
c.2717G>C (p.Gly906Ala)
c.2441G>C (p.Gly814Ala)
n.3016G>C
c.2609G>C (p.Gly870Ala)
c.2423G>C (p.Gly808Ala)
n.3019G>C
c.2714G>C (p.Gly905Ala)
c.2780G>C (p.Gly927Ala)
c.2732G>C (p.Gly911Ala)
c.2597G>C (p.Gly866Ala)
16g.28835649G>TCA395408271ATXN2Lc.2786G>T (p.Gly929Val)
c.761G>T (p.Gly254Val)
n.3160G>T
c.2804G>T (p.Gly935Val)
c.1850G>T (n.1850G>T)
c.55G>T
c.764G>T (p.Gly255Val)
c.306G>T
c.2807G>T (p.Gly936Val)
c.2789G>T (p.Gly930Val)
c.2627G>T (p.Gly876Val)
c.2735G>T (p.Gly912Val)
c.2717G>T (p.Gly906Val)
c.2441G>T (p.Gly814Val)
n.3016G>T
c.2609G>T (p.Gly870Val)
c.2423G>T (p.Gly808Val)
n.3019G>T
c.2714G>T (p.Gly905Val)
c.2780G>T (p.Gly927Val)
c.2732G>T (p.Gly911Val)
c.2597G>T (p.Gly866Val)
16g.28835650A>CCA494868822ATXN2Lc.2787A>C (p.Gly929=)
c.762A>C (p.Gly254=)
n.3161A>C
c.2805A>C (p.Gly935=)
c.1851A>C (n.1851A>C)
c.56A>C
c.765A>C (p.Gly255=)
c.307A>C
c.2808A>C (p.Gly936=)
c.2790A>C (p.Gly930=)
c.2628A>C (p.Gly876=)
c.2736A>C (p.Gly912=)
c.2718A>C (p.Gly906=)
c.2442A>C (p.Gly814=)
n.3017A>C
c.2610A>C (p.Gly870=)
c.2424A>C (p.Gly808=)
n.3020A>C
c.2715A>C (p.Gly905=)
c.2781A>C (p.Gly927=)
c.2733A>C (p.Gly911=)
c.2598A>C (p.Gly866=)
16g.28835650A>GCA494868834ATXN2Lc.2787A>G (p.Gly929=)
c.762A>G (p.Gly254=)
n.3161A>G
c.2805A>G (p.Gly935=)
c.1851A>G (n.1851A>G)
c.56A>G
c.765A>G (p.Gly255=)
c.307A>G
c.2808A>G (p.Gly936=)
c.2790A>G (p.Gly930=)
c.2628A>G (p.Gly876=)
c.2736A>G (p.Gly912=)
c.2718A>G (p.Gly906=)
c.2442A>G (p.Gly814=)
n.3017A>G
c.2610A>G (p.Gly870=)
c.2424A>G (p.Gly808=)
n.3020A>G
c.2715A>G (p.Gly905=)
c.2781A>G (p.Gly927=)
c.2733A>G (p.Gly911=)
c.2598A>G (p.Gly866=)
16g.28835650A>TCA494868826ATXN2Lc.2787A>T (p.Gly929=)
c.762A>T (p.Gly254=)
n.3161A>T
c.2805A>T (p.Gly935=)
c.1851A>T (n.1851A>T)
c.56A>T
c.765A>T (p.Gly255=)
c.307A>T
c.2808A>T (p.Gly936=)
c.2790A>T (p.Gly930=)
c.2628A>T (p.Gly876=)
c.2736A>T (p.Gly912=)
c.2718A>T (p.Gly906=)
c.2442A>T (p.Gly814=)
n.3017A>T
c.2610A>T (p.Gly870=)
c.2424A>T (p.Gly808=)
n.3020A>T
c.2715A>T (p.Gly905=)
c.2781A>T (p.Gly927=)
c.2733A>T (p.Gly911=)
c.2598A>T (p.Gly866=)
16g.28835651C>ACA395408273ATXN2Lc.2788C>A (p.Pro930Thr)
c.763C>A (p.Pro255Thr)
n.3162C>A
c.2806C>A (p.Pro936Thr)
c.1852C>A (n.1852C>A)
c.57C>A
c.766C>A (p.Pro256Thr)
c.308C>A
c.2809C>A (p.Pro937Thr)
c.2791C>A (p.Pro931Thr)
c.2629C>A (p.Pro877Thr)
c.2737C>A (p.Pro913Thr)
c.2719C>A (p.Pro907Thr)
c.2443C>A (p.Pro815Thr)
n.3018C>A
c.2611C>A (p.Pro871Thr)
c.2425C>A (p.Pro809Thr)
n.3021C>A
c.2716C>A (p.Pro906Thr)
c.2782C>A (p.Pro928Thr)
c.2734C>A (p.Pro912Thr)
c.2599C>A (p.Pro867Thr)
16g.28835651C=CA2215806389ATXN2Lc.2788C= (p.Pro930=)
c.763C= (p.Pro255=)
n.3162C=
c.2806C= (p.Pro936=)
c.1852C= (n.1852C=)
c.57C=
c.766C= (p.Pro256=)
c.308C=
c.2809C= (p.Pro937=)
c.2791C= (p.Pro931=)
c.2629C= (p.Pro877=)
c.2737C= (p.Pro913=)
c.2719C= (p.Pro907=)
c.2443C= (p.Pro815=)
n.3018C=
c.2611C= (p.Pro871=)
c.2425C= (p.Pro809=)
n.3021C=
c.2716C= (p.Pro906=)
c.2782C= (p.Pro928=)
c.2734C= (p.Pro912=)
c.2599C= (p.Pro867=)
16g.28835651C>GCA395408275ATXN2Lc.2788C>G (p.Pro930Ala)
c.763C>G (p.Pro255Ala)
n.3162C>G
c.2806C>G (p.Pro936Ala)
c.1852C>G (n.1852C>G)
c.57C>G
c.766C>G (p.Pro256Ala)
c.308C>G
c.2809C>G (p.Pro937Ala)
c.2791C>G (p.Pro931Ala)
c.2629C>G (p.Pro877Ala)
c.2737C>G (p.Pro913Ala)
c.2719C>G (p.Pro907Ala)
c.2443C>G (p.Pro815Ala)
n.3018C>G
c.2611C>G (p.Pro871Ala)
c.2425C>G (p.Pro809Ala)
n.3021C>G
c.2716C>G (p.Pro906Ala)
c.2782C>G (p.Pro928Ala)
c.2734C>G (p.Pro912Ala)
c.2599C>G (p.Pro867Ala)
16g.28835651C>TCA395408274ATXN2Lc.2788C>T (p.Pro930Ser)
c.763C>T (p.Pro255Ser)
n.3162C>T
c.2806C>T (p.Pro936Ser)
c.1852C>T (n.1852C>T)
c.57C>T
c.766C>T (p.Pro256Ser)
c.308C>T
c.2809C>T (p.Pro937Ser)
c.2791C>T (p.Pro931Ser)
c.2629C>T (p.Pro877Ser)
c.2737C>T (p.Pro913Ser)
c.2719C>T (p.Pro907Ser)
c.2443C>T (p.Pro815Ser)
n.3018C>T
c.2611C>T (p.Pro871Ser)
c.2425C>T (p.Pro809Ser)
n.3021C>T
c.2716C>T (p.Pro906Ser)
c.2782C>T (p.Pro928Ser)
c.2734C>T (p.Pro912Ser)
c.2599C>T (p.Pro867Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.28835652C>ACA395408276ATXN2Lc.2789C>A (p.Pro930His)
c.764C>A (p.Pro255His)
n.3163C>A
c.2807C>A (p.Pro936His)
c.1853C>A (n.1853C>A)
c.58C>A
c.767C>A (p.Pro256His)
c.309C>A
c.2810C>A (p.Pro937His)
c.2792C>A (p.Pro931His)
c.2630C>A (p.Pro877His)
c.2738C>A (p.Pro913His)
c.2720C>A (p.Pro907His)
c.2444C>A (p.Pro815His)
n.3019C>A
c.2612C>A (p.Pro871His)
c.2426C>A (p.Pro809His)
n.3022C>A
c.2717C>A (p.Pro906His)
c.2783C>A (p.Pro928His)
c.2735C>A (p.Pro912His)
c.2600C>A (p.Pro867His)
16g.28835652C>GCA395408277ATXN2Lc.2789C>G (p.Pro930Arg)
c.764C>G (p.Pro255Arg)
n.3163C>G
c.2807C>G (p.Pro936Arg)
c.1853C>G (n.1853C>G)
c.58C>G
c.767C>G (p.Pro256Arg)
c.309C>G
c.2810C>G (p.Pro937Arg)
c.2792C>G (p.Pro931Arg)
c.2630C>G (p.Pro877Arg)
c.2738C>G (p.Pro913Arg)
c.2720C>G (p.Pro907Arg)
c.2444C>G (p.Pro815Arg)
n.3019C>G
c.2612C>G (p.Pro871Arg)
c.2426C>G (p.Pro809Arg)
n.3022C>G
c.2717C>G (p.Pro906Arg)
c.2783C>G (p.Pro928Arg)
c.2735C>G (p.Pro912Arg)
c.2600C>G (p.Pro867Arg)
 gnomAD v4
16g.28835652C>TCA395408278ATXN2Lc.2789C>T (p.Pro930Leu)
c.764C>T (p.Pro255Leu)
n.3163C>T
c.2807C>T (p.Pro936Leu)
c.1853C>T (n.1853C>T)
c.58C>T
c.767C>T (p.Pro256Leu)
c.309C>T
c.2810C>T (p.Pro937Leu)
c.2792C>T (p.Pro931Leu)
c.2630C>T (p.Pro877Leu)
c.2738C>T (p.Pro913Leu)
c.2720C>T (p.Pro907Leu)
c.2444C>T (p.Pro815Leu)
n.3019C>T
c.2612C>T (p.Pro871Leu)
c.2426C>T (p.Pro809Leu)
n.3022C>T
c.2717C>T (p.Pro906Leu)
c.2783C>T (p.Pro928Leu)
c.2735C>T (p.Pro912Leu)
c.2600C>T (p.Pro867Leu)
16g.28835654_28835656delCA2632528909ATXN2Lc.2791_2793del (p.Ser931del)
c.766_768del (p.Ser256del)
n.3165_3167del
c.2809_2811del (p.Ser937del)
c.1855_1857del (n.1855_1857del)
c.60_62del
c.769_771del (p.Ser257del)
c.311_313del
c.2812_2814del (p.Ser938del)
c.2794_2796del (p.Ser932del)
c.2632_2634del (p.Ser878del)
c.2740_2742del (p.Ser914del)
c.2722_2724del (p.Ser908del)
c.2446_2448del (p.Ser816del)
n.3021_3023del
c.2614_2616del (p.Ser872del)
c.2428_2430del (p.Ser810del)
n.3024_3026del
c.2719_2721del (p.Ser907del)
c.2785_2787del (p.Ser929del)
c.2737_2739del (p.Ser913del)
c.2602_2604del (p.Ser868del)
 gnomAD v4
16g.28835653T>ACA494868866ATXN2Lc.2790T>A (p.Pro930=)
c.765T>A (p.Pro255=)
n.3164T>A
c.2808T>A (p.Pro936=)
c.1854T>A (n.1854T>A)
c.59T>A
c.768T>A (p.Pro256=)
c.310T>A
c.2811T>A (p.Pro937=)
c.2793T>A (p.Pro931=)
c.2631T>A (p.Pro877=)
c.2739T>A (p.Pro913=)
c.2721T>A (p.Pro907=)
c.2445T>A (p.Pro815=)
n.3020T>A
c.2613T>A (p.Pro871=)
c.2427T>A (p.Pro809=)
n.3023T>A
c.2718T>A (p.Pro906=)
c.2784T>A (p.Pro928=)
c.2736T>A (p.Pro912=)
c.2601T>A (p.Pro867=)
16g.28835653T>CCA494868869ATXN2Lc.2790T>C (p.Pro930=)
c.765T>C (p.Pro255=)
n.3164T>C
c.2808T>C (p.Pro936=)
c.1854T>C (n.1854T>C)
c.59T>C
c.768T>C (p.Pro256=)
c.310T>C
c.2811T>C (p.Pro937=)
c.2793T>C (p.Pro931=)
c.2631T>C (p.Pro877=)
c.2739T>C (p.Pro913=)
c.2721T>C (p.Pro907=)
c.2445T>C (p.Pro815=)
n.3020T>C
c.2613T>C (p.Pro871=)
c.2427T>C (p.Pro809=)
n.3023T>C
c.2718T>C (p.Pro906=)
c.2784T>C (p.Pro928=)
c.2736T>C (p.Pro912=)
c.2601T>C (p.Pro867=)
 COSMIC COSMIC COSMIC COSMIC
16g.28835653T>GCA494868874ATXN2Lc.2790T>G (p.Pro930=)
c.765T>G (p.Pro255=)
n.3164T>G
c.2808T>G (p.Pro936=)
c.1854T>G (n.1854T>G)
c.59T>G
c.768T>G (p.Pro256=)
c.310T>G
c.2811T>G (p.Pro937=)
c.2793T>G (p.Pro931=)
c.2631T>G (p.Pro877=)
c.2739T>G (p.Pro913=)
c.2721T>G (p.Pro907=)
c.2445T>G (p.Pro815=)
n.3020T>G
c.2613T>G (p.Pro871=)
c.2427T>G (p.Pro809=)
n.3023T>G
c.2718T>G (p.Pro906=)
c.2784T>G (p.Pro928=)
c.2736T>G (p.Pro912=)
c.2601T>G (p.Pro867=)
16g.28835654T>ACA395408279ATXN2Lc.2791T>A (p.Ser931Thr)
c.766T>A (p.Ser256Thr)
n.3165T>A
c.2809T>A (p.Ser937Thr)
c.1855T>A (n.1855T>A)
c.60T>A
c.769T>A (p.Ser257Thr)
c.311T>A
c.2812T>A (p.Ser938Thr)
c.2794T>A (p.Ser932Thr)
c.2632T>A (p.Ser878Thr)
c.2740T>A (p.Ser914Thr)
c.2722T>A (p.Ser908Thr)
c.2446T>A (p.Ser816Thr)
n.3021T>A
c.2614T>A (p.Ser872Thr)
c.2428T>A (p.Ser810Thr)
n.3024T>A
c.2719T>A (p.Ser907Thr)
c.2785T>A (p.Ser929Thr)
c.2737T>A (p.Ser913Thr)
c.2602T>A (p.Ser868Thr)
16g.28835654T>CCA7985094ATXN2Lc.2791T>C (p.Ser931Pro)
c.766T>C (p.Ser256Pro)
n.3165T>C
c.2809T>C (p.Ser937Pro)
c.1855T>C (n.1855T>C)
c.60T>C
c.769T>C (p.Ser257Pro)
c.311T>C
c.2812T>C (p.Ser938Pro)
c.2794T>C (p.Ser932Pro)
c.2632T>C (p.Ser878Pro)
c.2740T>C (p.Ser914Pro)
c.2722T>C (p.Ser908Pro)
c.2446T>C (p.Ser816Pro)
n.3021T>C
c.2614T>C (p.Ser872Pro)
c.2428T>C (p.Ser810Pro)
n.3024T>C
c.2719T>C (p.Ser907Pro)
c.2785T>C (p.Ser929Pro)
c.2737T>C (p.Ser913Pro)
c.2602T>C (p.Ser868Pro)
 dbSNP ExAC
16g.28835654T>GCA395408280ATXN2Lc.2791T>G (p.Ser931Ala)
c.766T>G (p.Ser256Ala)
n.3165T>G
c.2809T>G (p.Ser937Ala)
c.1855T>G (n.1855T>G)
c.60T>G
c.769T>G (p.Ser257Ala)
c.311T>G
c.2812T>G (p.Ser938Ala)
c.2794T>G (p.Ser932Ala)
c.2632T>G (p.Ser878Ala)
c.2740T>G (p.Ser914Ala)
c.2722T>G (p.Ser908Ala)
c.2446T>G (p.Ser816Ala)
n.3021T>G
c.2614T>G (p.Ser872Ala)
c.2428T>G (p.Ser810Ala)
n.3024T>G
c.2719T>G (p.Ser907Ala)
c.2785T>G (p.Ser929Ala)
c.2737T>G (p.Ser913Ala)
c.2602T>G (p.Ser868Ala)
 gnomAD v4
16g.28835654T=CA2215806392ATXN2Lc.2791T= (p.Ser931=)
c.766T= (p.Ser256=)
n.3165T=
c.2809T= (p.Ser937=)
c.1855T= (n.1855T=)
c.60T=
c.769T= (p.Ser257=)
c.311T=
c.2812T= (p.Ser938=)
c.2794T= (p.Ser932=)
c.2632T= (p.Ser878=)
c.2740T= (p.Ser914=)
c.2722T= (p.Ser908=)
c.2446T= (p.Ser816=)
n.3021T=
c.2614T= (p.Ser872=)
c.2428T= (p.Ser810=)
n.3024T=
c.2719T= (p.Ser907=)
c.2785T= (p.Ser929=)
c.2737T= (p.Ser913=)
c.2602T= (p.Ser868=)
16g.28835655C>ACA395408281ATXN2Lc.2792C>A (p.Ser931Tyr)
c.767C>A (p.Ser256Tyr)
n.3166C>A
c.2810C>A (p.Ser937Tyr)
c.1856C>A (n.1856C>A)
c.61C>A
c.770C>A (p.Ser257Tyr)
c.312C>A
c.2813C>A (p.Ser938Tyr)
c.2795C>A (p.Ser932Tyr)
c.2633C>A (p.Ser878Tyr)
c.2741C>A (p.Ser914Tyr)
c.2723C>A (p.Ser908Tyr)
c.2447C>A (p.Ser816Tyr)
n.3022C>A
c.2615C>A (p.Ser872Tyr)
c.2429C>A (p.Ser810Tyr)
n.3025C>A
c.2720C>A (p.Ser907Tyr)
c.2786C>A (p.Ser929Tyr)
c.2738C>A (p.Ser913Tyr)
c.2603C>A (p.Ser868Tyr)
16g.28835655C=CA2215806395ATXN2Lc.2792C= (p.Ser931=)
c.767C= (p.Ser256=)
n.3166C=
c.2810C= (p.Ser937=)
c.1856C= (n.1856C=)
c.61C=
c.770C= (p.Ser257=)
c.312C=
c.2813C= (p.Ser938=)
c.2795C= (p.Ser932=)
c.2633C= (p.Ser878=)
c.2741C= (p.Ser914=)
c.2723C= (p.Ser908=)
c.2447C= (p.Ser816=)
n.3022C=
c.2615C= (p.Ser872=)
c.2429C= (p.Ser810=)
n.3025C=
c.2720C= (p.Ser907=)
c.2786C= (p.Ser929=)
c.2738C= (p.Ser913=)
c.2603C= (p.Ser868=)
16g.28835655C>GCA395408282ATXN2Lc.2792C>G (p.Ser931Cys)
c.767C>G (p.Ser256Cys)
n.3166C>G
c.2810C>G (p.Ser937Cys)
c.1856C>G (n.1856C>G)
c.61C>G
c.770C>G (p.Ser257Cys)
c.312C>G
c.2813C>G (p.Ser938Cys)
c.2795C>G (p.Ser932Cys)
c.2633C>G (p.Ser878Cys)
c.2741C>G (p.Ser914Cys)
c.2723C>G (p.Ser908Cys)
c.2447C>G (p.Ser816Cys)
n.3022C>G
c.2615C>G (p.Ser872Cys)
c.2429C>G (p.Ser810Cys)
n.3025C>G
c.2720C>G (p.Ser907Cys)
c.2786C>G (p.Ser929Cys)
c.2738C>G (p.Ser913Cys)
c.2603C>G (p.Ser868Cys)
16g.28835655C>TCA279230771ATXN2Lc.2792C>T (p.Ser931Phe)
c.767C>T (p.Ser256Phe)
n.3166C>T
c.2810C>T (p.Ser937Phe)
c.1856C>T (n.1856C>T)
c.61C>T
c.770C>T (p.Ser257Phe)
c.312C>T
c.2813C>T (p.Ser938Phe)
c.2795C>T (p.Ser932Phe)
c.2633C>T (p.Ser878Phe)
c.2741C>T (p.Ser914Phe)
c.2723C>T (p.Ser908Phe)
c.2447C>T (p.Ser816Phe)
n.3022C>T
c.2615C>T (p.Ser872Phe)
c.2429C>T (p.Ser810Phe)
n.3025C>T
c.2720C>T (p.Ser907Phe)
c.2786C>T (p.Ser929Phe)
c.2738C>T (p.Ser913Phe)
c.2603C>T (p.Ser868Phe)
 dbSNP
16g.28835656T>ACA494868888ATXN2Lc.2793T>A (p.Ser931=)
c.768T>A (p.Ser256=)
n.3167T>A
c.2811T>A (p.Ser937=)
c.1857T>A (n.1857T>A)
c.62T>A
c.771T>A (p.Ser257=)
c.313T>A
c.2814T>A (p.Ser938=)
c.2796T>A (p.Ser932=)
c.2634T>A (p.Ser878=)
c.2742T>A (p.Ser914=)
c.2724T>A (p.Ser908=)
c.2448T>A (p.Ser816=)
n.3023T>A
c.2616T>A (p.Ser872=)
c.2430T>A (p.Ser810=)
n.3026T>A
c.2721T>A (p.Ser907=)
c.2787T>A (p.Ser929=)
c.2739T>A (p.Ser913=)
c.2604T>A (p.Ser868=)
16g.28835656T>CCA494868890ATXN2Lc.2793T>C (p.Ser931=)
c.768T>C (p.Ser256=)
n.3167T>C
c.2811T>C (p.Ser937=)
c.1857T>C (n.1857T>C)
c.62T>C
c.771T>C (p.Ser257=)
c.313T>C
c.2814T>C (p.Ser938=)
c.2796T>C (p.Ser932=)
c.2634T>C (p.Ser878=)
c.2742T>C (p.Ser914=)
c.2724T>C (p.Ser908=)
c.2448T>C (p.Ser816=)
n.3023T>C
c.2616T>C (p.Ser872=)
c.2430T>C (p.Ser810=)
n.3026T>C
c.2721T>C (p.Ser907=)
c.2787T>C (p.Ser929=)
c.2739T>C (p.Ser913=)
c.2604T>C (p.Ser868=)
16g.28835656T>GCA494868895ATXN2Lc.2793T>G (p.Ser931=)
c.768T>G (p.Ser256=)
n.3167T>G
c.2811T>G (p.Ser937=)
c.1857T>G (n.1857T>G)
c.62T>G
c.771T>G (p.Ser257=)
c.313T>G
c.2814T>G (p.Ser938=)
c.2796T>G (p.Ser932=)
c.2634T>G (p.Ser878=)
c.2742T>G (p.Ser914=)
c.2724T>G (p.Ser908=)
c.2448T>G (p.Ser816=)
n.3023T>G
c.2616T>G (p.Ser872=)
c.2430T>G (p.Ser810=)
n.3026T>G
c.2721T>G (p.Ser907=)
c.2787T>G (p.Ser929=)
c.2739T>G (p.Ser913=)
c.2604T>G (p.Ser868=)
16g.28835657G>ACA395408283ATXN2Lc.2794G>A (p.Ala932Thr)
c.769G>A (p.Ala257Thr)
n.3168G>A
c.2812G>A (p.Ala938Thr)
c.1858G>A (n.1858G>A)
c.63G>A
c.772G>A (p.Ala258Thr)
c.314G>A
c.2815G>A (p.Ala939Thr)
c.2797G>A (p.Ala933Thr)
c.2635G>A (p.Ala879Thr)
c.2743G>A (p.Ala915Thr)
c.2725G>A (p.Ala909Thr)
c.2449G>A (p.Ala817Thr)
n.3024G>A
c.2617G>A (p.Ala873Thr)
c.2431G>A (p.Ala811Thr)
n.3027G>A
c.2722G>A (p.Ala908Thr)
c.2788G>A (p.Ala930Thr)
c.2740G>A (p.Ala914Thr)
c.2605G>A (p.Ala869Thr)
 COSMIC COSMIC COSMIC COSMIC
16g.28835657G>CCA395408284ATXN2Lc.2794G>C (p.Ala932Pro)
c.769G>C (p.Ala257Pro)
n.3168G>C
c.2812G>C (p.Ala938Pro)
c.1858G>C (n.1858G>C)
c.63G>C
c.772G>C (p.Ala258Pro)
c.314G>C
c.2815G>C (p.Ala939Pro)
c.2797G>C (p.Ala933Pro)
c.2635G>C (p.Ala879Pro)
c.2743G>C (p.Ala915Pro)
c.2725G>C (p.Ala909Pro)
c.2449G>C (p.Ala817Pro)
n.3024G>C
c.2617G>C (p.Ala873Pro)
c.2431G>C (p.Ala811Pro)
n.3027G>C
c.2722G>C (p.Ala908Pro)
c.2788G>C (p.Ala930Pro)
c.2740G>C (p.Ala914Pro)
c.2605G>C (p.Ala869Pro)
16g.28835657G>TCA395408285ATXN2Lc.2794G>T (p.Ala932Ser)
c.769G>T (p.Ala257Ser)
n.3168G>T
c.2812G>T (p.Ala938Ser)
c.1858G>T (n.1858G>T)
c.63G>T
c.772G>T (p.Ala258Ser)
c.314G>T
c.2815G>T (p.Ala939Ser)
c.2797G>T (p.Ala933Ser)
c.2635G>T (p.Ala879Ser)
c.2743G>T (p.Ala915Ser)
c.2725G>T (p.Ala909Ser)
c.2449G>T (p.Ala817Ser)
n.3024G>T
c.2617G>T (p.Ala873Ser)
c.2431G>T (p.Ala811Ser)
n.3027G>T
c.2722G>T (p.Ala908Ser)
c.2788G>T (p.Ala930Ser)
c.2740G>T (p.Ala914Ser)
c.2605G>T (p.Ala869Ser)
16g.28835658C>ACA395408288ATXN2Lc.2795C>A (p.Ala932Asp)
c.770C>A (p.Ala257Asp)
n.3169C>A
c.2813C>A (p.Ala938Asp)
c.1859C>A (n.1859C>A)
c.64C>A
c.773C>A (p.Ala258Asp)
c.315C>A
c.2816C>A (p.Ala939Asp)
c.2798C>A (p.Ala933Asp)
c.2636C>A (p.Ala879Asp)
c.2744C>A (p.Ala915Asp)
c.2726C>A (p.Ala909Asp)
c.2450C>A (p.Ala817Asp)
n.3025C>A
c.2618C>A (p.Ala873Asp)
c.2432C>A (p.Ala811Asp)
n.3028C>A
c.2723C>A (p.Ala908Asp)
c.2789C>A (p.Ala930Asp)
c.2741C>A (p.Ala914Asp)
c.2606C>A (p.Ala869Asp)
16g.28835658C>GCA395408286ATXN2Lc.2795C>G (p.Ala932Gly)
c.770C>G (p.Ala257Gly)
n.3169C>G
c.2813C>G (p.Ala938Gly)
c.1859C>G (n.1859C>G)
c.64C>G
c.773C>G (p.Ala258Gly)
c.315C>G
c.2816C>G (p.Ala939Gly)
c.2798C>G (p.Ala933Gly)
c.2636C>G (p.Ala879Gly)
c.2744C>G (p.Ala915Gly)
c.2726C>G (p.Ala909Gly)
c.2450C>G (p.Ala817Gly)
n.3025C>G
c.2618C>G (p.Ala873Gly)
c.2432C>G (p.Ala811Gly)
n.3028C>G
c.2723C>G (p.Ala908Gly)
c.2789C>G (p.Ala930Gly)
c.2741C>G (p.Ala914Gly)
c.2606C>G (p.Ala869Gly)
16g.28835658C>TCA395408287ATXN2Lc.2795C>T (p.Ala932Val)
c.770C>T (p.Ala257Val)
n.3169C>T
c.2813C>T (p.Ala938Val)
c.1859C>T (n.1859C>T)
c.64C>T
c.773C>T (p.Ala258Val)
c.315C>T
c.2816C>T (p.Ala939Val)
c.2798C>T (p.Ala933Val)
c.2636C>T (p.Ala879Val)
c.2744C>T (p.Ala915Val)
c.2726C>T (p.Ala909Val)
c.2450C>T (p.Ala817Val)
n.3025C>T
c.2618C>T (p.Ala873Val)
c.2432C>T (p.Ala811Val)
n.3028C>T
c.2723C>T (p.Ala908Val)
c.2789C>T (p.Ala930Val)
c.2741C>T (p.Ala914Val)
c.2606C>T (p.Ala869Val)
16g.28835659C>ACA494868915ATXN2Lc.2796C>A (p.Ala932=)
c.771C>A (p.Ala257=)
n.3170C>A
c.2814C>A (p.Ala938=)
c.1860C>A (n.1860C>A)
c.65C>A
c.774C>A (p.Ala258=)
c.316C>A
c.2817C>A (p.Ala939=)
c.2799C>A (p.Ala933=)
c.2637C>A (p.Ala879=)
c.2745C>A (p.Ala915=)
c.2727C>A (p.Ala909=)
c.2451C>A (p.Ala817=)
n.3026C>A
c.2619C>A (p.Ala873=)
c.2433C>A (p.Ala811=)
n.3029C>A
c.2724C>A (p.Ala908=)
c.2790C>A (p.Ala930=)
c.2742C>A (p.Ala914=)
c.2607C>A (p.Ala869=)
16g.28835659C=CA2215806403ATXN2Lc.2796C= (p.Ala932=)
c.771C= (p.Ala257=)
n.3170C=
c.2814C= (p.Ala938=)
c.1860C= (n.1860C=)
c.65C=
c.774C= (p.Ala258=)
c.316C=
c.2817C= (p.Ala939=)
c.2799C= (p.Ala933=)
c.2637C= (p.Ala879=)
c.2745C= (p.Ala915=)
c.2727C= (p.Ala909=)
c.2451C= (p.Ala817=)
n.3026C=
c.2619C= (p.Ala873=)
c.2433C= (p.Ala811=)
n.3029C=
c.2724C= (p.Ala908=)
c.2790C= (p.Ala930=)
c.2742C= (p.Ala914=)
c.2607C= (p.Ala869=)
16g.28835659C>GCA494868911ATXN2Lc.2796C>G (p.Ala932=)
c.771C>G (p.Ala257=)
n.3170C>G
c.2814C>G (p.Ala938=)
c.1860C>G (n.1860C>G)
c.65C>G
c.774C>G (p.Ala258=)
c.316C>G
c.2817C>G (p.Ala939=)
c.2799C>G (p.Ala933=)
c.2637C>G (p.Ala879=)
c.2745C>G (p.Ala915=)
c.2727C>G (p.Ala909=)
c.2451C>G (p.Ala817=)
n.3026C>G
c.2619C>G (p.Ala873=)
c.2433C>G (p.Ala811=)
n.3029C>G
c.2724C>G (p.Ala908=)
c.2790C>G (p.Ala930=)
c.2742C>G (p.Ala914=)
c.2607C>G (p.Ala869=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835659C>TCA494868909ATXN2Lc.2796C>T (p.Ala932=)
c.771C>T (p.Ala257=)
n.3170C>T
c.2814C>T (p.Ala938=)
c.1860C>T (n.1860C>T)
c.65C>T
c.774C>T (p.Ala258=)
c.316C>T
c.2817C>T (p.Ala939=)
c.2799C>T (p.Ala933=)
c.2637C>T (p.Ala879=)
c.2745C>T (p.Ala915=)
c.2727C>T (p.Ala909=)
c.2451C>T (p.Ala817=)
n.3026C>T
c.2619C>T (p.Ala873=)
c.2433C>T (p.Ala811=)
n.3029C>T
c.2724C>T (p.Ala908=)
c.2790C>T (p.Ala930=)
c.2742C>T (p.Ala914=)
c.2607C>T (p.Ala869=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835660C>ACA395408289ATXN2Lc.2797C>A (p.Gln933Lys)
c.772C>A (p.Gln258Lys)
n.3171C>A
c.2815C>A (p.Gln939Lys)
c.1861C>A (n.1861C>A)
c.66C>A
c.775C>A (p.Gln259Lys)
c.317C>A
c.2818C>A (p.Gln940Lys)
c.2800C>A (p.Gln934Lys)
c.2638C>A (p.Gln880Lys)
c.2746C>A (p.Gln916Lys)
c.2728C>A (p.Gln910Lys)
c.2452C>A (p.Gln818Lys)
n.3027C>A
c.2620C>A (p.Gln874Lys)
c.2434C>A (p.Gln812Lys)
n.3030C>A
c.2725C>A (p.Gln909Lys)
c.2791C>A (p.Gln931Lys)
c.2743C>A (p.Gln915Lys)
c.2608C>A (p.Gln870Lys)
16g.28835660C>GCA395408290ATXN2Lc.2797C>G (p.Gln933Glu)
c.772C>G (p.Gln258Glu)
n.3171C>G
c.2815C>G (p.Gln939Glu)
c.1861C>G (n.1861C>G)
c.66C>G
c.775C>G (p.Gln259Glu)
c.317C>G
c.2818C>G (p.Gln940Glu)
c.2800C>G (p.Gln934Glu)
c.2638C>G (p.Gln880Glu)
c.2746C>G (p.Gln916Glu)
c.2728C>G (p.Gln910Glu)
c.2452C>G (p.Gln818Glu)
n.3027C>G
c.2620C>G (p.Gln874Glu)
c.2434C>G (p.Gln812Glu)
n.3030C>G
c.2725C>G (p.Gln909Glu)
c.2791C>G (p.Gln931Glu)
c.2743C>G (p.Gln915Glu)
c.2608C>G (p.Gln870Glu)
16g.28835660C>TCA395408291ATXN2Lc.2797C>T (p.Gln933Ter)
c.772C>T (p.Gln258Ter)
n.3171C>T
c.2815C>T (p.Gln939Ter)
c.1861C>T (n.1861C>T)
c.66C>T
c.775C>T (p.Gln259Ter)
c.317C>T
c.2818C>T (p.Gln940Ter)
c.2800C>T (p.Gln934Ter)
c.2638C>T (p.Gln880Ter)
c.2746C>T (p.Gln916Ter)
c.2728C>T (p.Gln910Ter)
c.2452C>T (p.Gln818Ter)
n.3027C>T
c.2620C>T (p.Gln874Ter)
c.2434C>T (p.Gln812Ter)
n.3030C>T
c.2725C>T (p.Gln909Ter)
c.2791C>T (p.Gln931Ter)
c.2743C>T (p.Gln915Ter)
c.2608C>T (p.Gln870Ter)
16g.28835661A>CCA395408292ATXN2Lc.2798A>C (p.Gln933Pro)
c.773A>C (p.Gln258Pro)
n.3172A>C
c.2816A>C (p.Gln939Pro)
c.1862A>C (n.1862A>C)
c.67A>C
c.776A>C (p.Gln259Pro)
c.318A>C
c.2819A>C (p.Gln940Pro)
c.2801A>C (p.Gln934Pro)
c.2639A>C (p.Gln880Pro)
c.2747A>C (p.Gln916Pro)
c.2729A>C (p.Gln910Pro)
c.2453A>C (p.Gln818Pro)
n.3028A>C
c.2621A>C (p.Gln874Pro)
c.2435A>C (p.Gln812Pro)
n.3031A>C
c.2726A>C (p.Gln909Pro)
c.2792A>C (p.Gln931Pro)
c.2744A>C (p.Gln915Pro)
c.2609A>C (p.Gln870Pro)
16g.28835661A>GCA395408293ATXN2Lc.2798A>G (p.Gln933Arg)
c.773A>G (p.Gln258Arg)
n.3172A>G
c.2816A>G (p.Gln939Arg)
c.1862A>G (n.1862A>G)
c.67A>G
c.776A>G (p.Gln259Arg)
c.318A>G
c.2819A>G (p.Gln940Arg)
c.2801A>G (p.Gln934Arg)
c.2639A>G (p.Gln880Arg)
c.2747A>G (p.Gln916Arg)
c.2729A>G (p.Gln910Arg)
c.2453A>G (p.Gln818Arg)
n.3028A>G
c.2621A>G (p.Gln874Arg)
c.2435A>G (p.Gln812Arg)
n.3031A>G
c.2726A>G (p.Gln909Arg)
c.2792A>G (p.Gln931Arg)
c.2744A>G (p.Gln915Arg)
c.2609A>G (p.Gln870Arg)
 gnomAD v4
16g.28835661A>TCA395408294ATXN2Lc.2798A>T (p.Gln933Leu)
c.773A>T (p.Gln258Leu)
n.3172A>T
c.2816A>T (p.Gln939Leu)
c.1862A>T (n.1862A>T)
c.67A>T
c.776A>T (p.Gln259Leu)
c.318A>T
c.2819A>T (p.Gln940Leu)
c.2801A>T (p.Gln934Leu)
c.2639A>T (p.Gln880Leu)
c.2747A>T (p.Gln916Leu)
c.2729A>T (p.Gln910Leu)
c.2453A>T (p.Gln818Leu)
n.3028A>T
c.2621A>T (p.Gln874Leu)
c.2435A>T (p.Gln812Leu)
n.3031A>T
c.2726A>T (p.Gln909Leu)
c.2792A>T (p.Gln931Leu)
c.2744A>T (p.Gln915Leu)
c.2609A>T (p.Gln870Leu)
16g.28835662G>ACA494868948ATXN2Lc.2799G>A (p.Gln933=)
c.774G>A (p.Gln258=)
n.3173G>A
c.2817G>A (p.Gln939=)
c.1863G>A (n.1863G>A)
c.68G>A
c.777G>A (p.Gln259=)
c.319G>A
c.2820G>A (p.Gln940=)
c.2802G>A (p.Gln934=)
c.2640G>A (p.Gln880=)
c.2748G>A (p.Gln916=)
c.2730G>A (p.Gln910=)
c.2454G>A (p.Gln818=)
n.3029G>A
c.2622G>A (p.Gln874=)
c.2436G>A (p.Gln812=)
n.3032G>A
c.2727G>A (p.Gln909=)
c.2793G>A (p.Gln931=)
c.2745G>A (p.Gln915=)
c.2610G>A (p.Gln870=)
16g.28835662G>CCA395408295ATXN2Lc.2799G>C (p.Gln933His)
c.774G>C (p.Gln258His)
n.3173G>C
c.2817G>C (p.Gln939His)
c.1863G>C (n.1863G>C)
c.68G>C
c.777G>C (p.Gln259His)
c.319G>C
c.2820G>C (p.Gln940His)
c.2802G>C (p.Gln934His)
c.2640G>C (p.Gln880His)
c.2748G>C (p.Gln916His)
c.2730G>C (p.Gln910His)
c.2454G>C (p.Gln818His)
n.3029G>C
c.2622G>C (p.Gln874His)
c.2436G>C (p.Gln812His)
n.3032G>C
c.2727G>C (p.Gln909His)
c.2793G>C (p.Gln931His)
c.2745G>C (p.Gln915His)
c.2610G>C (p.Gln870His)
 gnomAD v4
16g.28835662G>TCA395408296ATXN2Lc.2799G>T (p.Gln933His)
c.774G>T (p.Gln258His)
n.3173G>T
c.2817G>T (p.Gln939His)
c.1863G>T (n.1863G>T)
c.68G>T
c.777G>T (p.Gln259His)
c.319G>T
c.2820G>T (p.Gln940His)
c.2802G>T (p.Gln934His)
c.2640G>T (p.Gln880His)
c.2748G>T (p.Gln916His)
c.2730G>T (p.Gln910His)
c.2454G>T (p.Gln818His)
n.3029G>T
c.2622G>T (p.Gln874His)
c.2436G>T (p.Gln812His)
n.3032G>T
c.2727G>T (p.Gln909His)
c.2793G>T (p.Gln931His)
c.2745G>T (p.Gln915His)
c.2610G>T (p.Gln870His)
16g.28835663T>ACA395408297ATXN2Lc.2800T>A (p.Ser934Thr)
c.775T>A (p.Ser259Thr)
n.3174T>A
c.2818T>A (p.Ser940Thr)
c.1864T>A (n.1864T>A)
c.69T>A
c.778T>A (p.Ser260Thr)
c.320T>A
c.2821T>A (p.Ser941Thr)
c.2803T>A (p.Ser935Thr)
c.2641T>A (p.Ser881Thr)
c.2749T>A (p.Ser917Thr)
c.2731T>A (p.Ser911Thr)
c.2455T>A (p.Ser819Thr)
n.3030T>A
c.2623T>A (p.Ser875Thr)
c.2437T>A (p.Ser813Thr)
n.3033T>A
c.2728T>A (p.Ser910Thr)
c.2794T>A (p.Ser932Thr)
c.2746T>A (p.Ser916Thr)
c.2611T>A (p.Ser871Thr)
16g.28835663T>CCA395408298ATXN2Lc.2800T>C (p.Ser934Pro)
c.775T>C (p.Ser259Pro)
n.3174T>C
c.2818T>C (p.Ser940Pro)
c.1864T>C (n.1864T>C)
c.69T>C
c.778T>C (p.Ser260Pro)
c.320T>C
c.2821T>C (p.Ser941Pro)
c.2803T>C (p.Ser935Pro)
c.2641T>C (p.Ser881Pro)
c.2749T>C (p.Ser917Pro)
c.2731T>C (p.Ser911Pro)
c.2455T>C (p.Ser819Pro)
n.3030T>C
c.2623T>C (p.Ser875Pro)
c.2437T>C (p.Ser813Pro)
n.3033T>C
c.2728T>C (p.Ser910Pro)
c.2794T>C (p.Ser932Pro)
c.2746T>C (p.Ser916Pro)
c.2611T>C (p.Ser871Pro)
 gnomAD v4
16g.28835663T>GCA7985095ATXN2Lc.2800T>G (p.Ser934Ala)
c.775T>G (p.Ser259Ala)
n.3174T>G
c.2818T>G (p.Ser940Ala)
c.1864T>G (n.1864T>G)
c.69T>G
c.778T>G (p.Ser260Ala)
c.320T>G
c.2821T>G (p.Ser941Ala)
c.2803T>G (p.Ser935Ala)
c.2641T>G (p.Ser881Ala)
c.2749T>G (p.Ser917Ala)
c.2731T>G (p.Ser911Ala)
c.2455T>G (p.Ser819Ala)
n.3030T>G
c.2623T>G (p.Ser875Ala)
c.2437T>G (p.Ser813Ala)
n.3033T>G
c.2728T>G (p.Ser910Ala)
c.2794T>G (p.Ser932Ala)
c.2746T>G (p.Ser916Ala)
c.2611T>G (p.Ser871Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835663T=CA2215806409ATXN2Lc.2800T= (p.Ser934=)
c.775T= (p.Ser259=)
n.3174T=
c.2818T= (p.Ser940=)
c.1864T= (n.1864T=)
c.69T=
c.778T= (p.Ser260=)
c.320T=
c.2821T= (p.Ser941=)
c.2803T= (p.Ser935=)
c.2641T= (p.Ser881=)
c.2749T= (p.Ser917=)
c.2731T= (p.Ser911=)
c.2455T= (p.Ser819=)
n.3030T=
c.2623T= (p.Ser875=)
c.2437T= (p.Ser813=)
n.3033T=
c.2728T= (p.Ser910=)
c.2794T= (p.Ser932=)
c.2746T= (p.Ser916=)
c.2611T= (p.Ser871=)
16g.28835664C>ACA395408301ATXN2Lc.2801C>A (p.Ser934Tyr)
c.776C>A (p.Ser259Tyr)
n.3175C>A
c.2819C>A (p.Ser940Tyr)
c.1865C>A (n.1865C>A)
c.70C>A
c.779C>A (p.Ser260Tyr)
c.321C>A
c.2822C>A (p.Ser941Tyr)
c.2804C>A (p.Ser935Tyr)
c.2642C>A (p.Ser881Tyr)
c.2750C>A (p.Ser917Tyr)
c.2732C>A (p.Ser911Tyr)
c.2456C>A (p.Ser819Tyr)
n.3031C>A
c.2624C>A (p.Ser875Tyr)
c.2438C>A (p.Ser813Tyr)
n.3034C>A
c.2729C>A (p.Ser910Tyr)
c.2795C>A (p.Ser932Tyr)
c.2747C>A (p.Ser916Tyr)
c.2612C>A (p.Ser871Tyr)
 gnomAD v4
16g.28835664C>GCA395408300ATXN2Lc.2801C>G (p.Ser934Cys)
c.776C>G (p.Ser259Cys)
n.3175C>G
c.2819C>G (p.Ser940Cys)
c.1865C>G (n.1865C>G)
c.70C>G
c.779C>G (p.Ser260Cys)
c.321C>G
c.2822C>G (p.Ser941Cys)
c.2804C>G (p.Ser935Cys)
c.2642C>G (p.Ser881Cys)
c.2750C>G (p.Ser917Cys)
c.2732C>G (p.Ser911Cys)
c.2456C>G (p.Ser819Cys)
n.3031C>G
c.2624C>G (p.Ser875Cys)
c.2438C>G (p.Ser813Cys)
n.3034C>G
c.2729C>G (p.Ser910Cys)
c.2795C>G (p.Ser932Cys)
c.2747C>G (p.Ser916Cys)
c.2612C>G (p.Ser871Cys)
16g.28835664C>TCA395408299ATXN2Lc.2801C>T (p.Ser934Phe)
c.776C>T (p.Ser259Phe)
n.3175C>T
c.2819C>T (p.Ser940Phe)
c.1865C>T (n.1865C>T)
c.70C>T
c.779C>T (p.Ser260Phe)
c.321C>T
c.2822C>T (p.Ser941Phe)
c.2804C>T (p.Ser935Phe)
c.2642C>T (p.Ser881Phe)
c.2750C>T (p.Ser917Phe)
c.2732C>T (p.Ser911Phe)
c.2456C>T (p.Ser819Phe)
n.3031C>T
c.2624C>T (p.Ser875Phe)
c.2438C>T (p.Ser813Phe)
n.3034C>T
c.2729C>T (p.Ser910Phe)
c.2795C>T (p.Ser932Phe)
c.2747C>T (p.Ser916Phe)
c.2612C>T (p.Ser871Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835665C>ACA494868967ATXN2Lc.2802C>A (p.Ser934=)
c.777C>A (p.Ser259=)
n.3176C>A
c.2820C>A (p.Ser940=)
c.1866C>A (n.1866C>A)
c.71C>A
c.780C>A (p.Ser260=)
c.322C>A
c.2823C>A (p.Ser941=)
c.2805C>A (p.Ser935=)
c.2643C>A (p.Ser881=)
c.2751C>A (p.Ser917=)
c.2733C>A (p.Ser911=)
c.2457C>A (p.Ser819=)
n.3032C>A
c.2625C>A (p.Ser875=)
c.2439C>A (p.Ser813=)
n.3035C>A
c.2730C>A (p.Ser910=)
c.2796C>A (p.Ser932=)
c.2748C>A (p.Ser916=)
c.2613C>A (p.Ser871=)
16g.28835665C>GCA494868970ATXN2Lc.2802C>G (p.Ser934=)
c.777C>G (p.Ser259=)
n.3176C>G
c.2820C>G (p.Ser940=)
c.1866C>G (n.1866C>G)
c.71C>G
c.780C>G (p.Ser260=)
c.322C>G
c.2823C>G (p.Ser941=)
c.2805C>G (p.Ser935=)
c.2643C>G (p.Ser881=)
c.2751C>G (p.Ser917=)
c.2733C>G (p.Ser911=)
c.2457C>G (p.Ser819=)
n.3032C>G
c.2625C>G (p.Ser875=)
c.2439C>G (p.Ser813=)
n.3035C>G
c.2730C>G (p.Ser910=)
c.2796C>G (p.Ser932=)
c.2748C>G (p.Ser916=)
c.2613C>G (p.Ser871=)
 gnomAD v4
16g.28835665C>TCA494868982ATXN2Lc.2802C>T (p.Ser934=)
c.777C>T (p.Ser259=)
n.3176C>T
c.2820C>T (p.Ser940=)
c.1866C>T (n.1866C>T)
c.71C>T
c.780C>T (p.Ser260=)
c.322C>T
c.2823C>T (p.Ser941=)
c.2805C>T (p.Ser935=)
c.2643C>T (p.Ser881=)
c.2751C>T (p.Ser917=)
c.2733C>T (p.Ser911=)
c.2457C>T (p.Ser819=)
n.3032C>T
c.2625C>T (p.Ser875=)
c.2439C>T (p.Ser813=)
n.3035C>T
c.2730C>T (p.Ser910=)
c.2796C>T (p.Ser932=)
c.2748C>T (p.Ser916=)
c.2613C>T (p.Ser871=)
 gnomAD v4
16g.28835666C>ACA395408302ATXN2Lc.2803C>A (p.Pro935Thr)
c.778C>A (p.Pro260Thr)
n.3177C>A
c.2821C>A (p.Pro941Thr)
c.1867C>A (n.1867C>A)
c.72C>A
c.781C>A (p.Pro261Thr)
c.323C>A
c.2824C>A (p.Pro942Thr)
c.2806C>A (p.Pro936Thr)
c.2644C>A (p.Pro882Thr)
c.2752C>A (p.Pro918Thr)
c.2734C>A (p.Pro912Thr)
c.2458C>A (p.Pro820Thr)
n.3033C>A
c.2626C>A (p.Pro876Thr)
c.2440C>A (p.Pro814Thr)
n.3036C>A
c.2731C>A (p.Pro911Thr)
c.2797C>A (p.Pro933Thr)
c.2749C>A (p.Pro917Thr)
c.2614C>A (p.Pro872Thr)
16g.28835666C>GCA395408303ATXN2Lc.2803C>G (p.Pro935Ala)
c.778C>G (p.Pro260Ala)
n.3177C>G
c.2821C>G (p.Pro941Ala)
c.1867C>G (n.1867C>G)
c.72C>G
c.781C>G (p.Pro261Ala)
c.323C>G
c.2824C>G (p.Pro942Ala)
c.2806C>G (p.Pro936Ala)
c.2644C>G (p.Pro882Ala)
c.2752C>G (p.Pro918Ala)
c.2734C>G (p.Pro912Ala)
c.2458C>G (p.Pro820Ala)
n.3033C>G
c.2626C>G (p.Pro876Ala)
c.2440C>G (p.Pro814Ala)
n.3036C>G
c.2731C>G (p.Pro911Ala)
c.2797C>G (p.Pro933Ala)
c.2749C>G (p.Pro917Ala)
c.2614C>G (p.Pro872Ala)
 gnomAD v4
16g.28835666C>TCA395408304ATXN2Lc.2803C>T (p.Pro935Ser)
c.778C>T (p.Pro260Ser)
n.3177C>T
c.2821C>T (p.Pro941Ser)
c.1867C>T (n.1867C>T)
c.72C>T
c.781C>T (p.Pro261Ser)
c.323C>T
c.2824C>T (p.Pro942Ser)
c.2806C>T (p.Pro936Ser)
c.2644C>T (p.Pro882Ser)
c.2752C>T (p.Pro918Ser)
c.2734C>T (p.Pro912Ser)
c.2458C>T (p.Pro820Ser)
n.3033C>T
c.2626C>T (p.Pro876Ser)
c.2440C>T (p.Pro814Ser)
n.3036C>T
c.2731C>T (p.Pro911Ser)
c.2797C>T (p.Pro933Ser)
c.2749C>T (p.Pro917Ser)
c.2614C>T (p.Pro872Ser)
 COSMIC COSMIC COSMIC COSMIC
16g.28835667C>ACA395408305ATXN2Lc.2804C>A (p.Pro935His)
c.779C>A (p.Pro260His)
n.3178C>A
c.2822C>A (p.Pro941His)
c.1868C>A (n.1868C>A)
c.73C>A
c.782C>A (p.Pro261His)
c.324C>A
c.2825C>A (p.Pro942His)
c.2807C>A (p.Pro936His)
c.2645C>A (p.Pro882His)
c.2753C>A (p.Pro918His)
c.2735C>A (p.Pro912His)
c.2459C>A (p.Pro820His)
n.3034C>A
c.2627C>A (p.Pro876His)
c.2441C>A (p.Pro814His)
n.3037C>A
c.2732C>A (p.Pro911His)
c.2798C>A (p.Pro933His)
c.2750C>A (p.Pro917His)
c.2615C>A (p.Pro872His)
 COSMIC COSMIC
16g.28835667C>GCA395408306ATXN2Lc.2804C>G (p.Pro935Arg)
c.779C>G (p.Pro260Arg)
n.3178C>G
c.2822C>G (p.Pro941Arg)
c.1868C>G (n.1868C>G)
c.73C>G
c.782C>G (p.Pro261Arg)
c.324C>G
c.2825C>G (p.Pro942Arg)
c.2807C>G (p.Pro936Arg)
c.2645C>G (p.Pro882Arg)
c.2753C>G (p.Pro918Arg)
c.2735C>G (p.Pro912Arg)
c.2459C>G (p.Pro820Arg)
n.3034C>G
c.2627C>G (p.Pro876Arg)
c.2441C>G (p.Pro814Arg)
n.3037C>G
c.2732C>G (p.Pro911Arg)
c.2798C>G (p.Pro933Arg)
c.2750C>G (p.Pro917Arg)
c.2615C>G (p.Pro872Arg)
16g.28835667C>TCA395408307ATXN2Lc.2804C>T (p.Pro935Leu)
c.779C>T (p.Pro260Leu)
n.3178C>T
c.2822C>T (p.Pro941Leu)
c.1868C>T (n.1868C>T)
c.73C>T
c.782C>T (p.Pro261Leu)
c.324C>T
c.2825C>T (p.Pro942Leu)
c.2807C>T (p.Pro936Leu)
c.2645C>T (p.Pro882Leu)
c.2753C>T (p.Pro918Leu)
c.2735C>T (p.Pro912Leu)
c.2459C>T (p.Pro820Leu)
n.3034C>T
c.2627C>T (p.Pro876Leu)
c.2441C>T (p.Pro814Leu)
n.3037C>T
c.2732C>T (p.Pro911Leu)
c.2798C>T (p.Pro933Leu)
c.2750C>T (p.Pro917Leu)
c.2615C>T (p.Pro872Leu)
16g.28835668T>ACA494869002ATXN2Lc.2805T>A (p.Pro935=)
c.780T>A (p.Pro260=)
n.3179T>A
c.2823T>A (p.Pro941=)
c.1869T>A (n.1869T>A)
c.74T>A
c.783T>A (p.Pro261=)
c.325T>A
c.2826T>A (p.Pro942=)
c.2808T>A (p.Pro936=)
c.2646T>A (p.Pro882=)
c.2754T>A (p.Pro918=)
c.2736T>A (p.Pro912=)
c.2460T>A (p.Pro820=)
n.3035T>A
c.2628T>A (p.Pro876=)
c.2442T>A (p.Pro814=)
n.3038T>A
c.2733T>A (p.Pro911=)
c.2799T>A (p.Pro933=)
c.2751T>A (p.Pro917=)
c.2616T>A (p.Pro872=)
16g.28835668T>CCA494869006ATXN2Lc.2805T>C (p.Pro935=)
c.780T>C (p.Pro260=)
n.3179T>C
c.2823T>C (p.Pro941=)
c.1869T>C (n.1869T>C)
c.74T>C
c.783T>C (p.Pro261=)
c.325T>C
c.2826T>C (p.Pro942=)
c.2808T>C (p.Pro936=)
c.2646T>C (p.Pro882=)
c.2754T>C (p.Pro918=)
c.2736T>C (p.Pro912=)
c.2460T>C (p.Pro820=)
n.3035T>C
c.2628T>C (p.Pro876=)
c.2442T>C (p.Pro814=)
n.3038T>C
c.2733T>C (p.Pro911=)
c.2799T>C (p.Pro933=)
c.2751T>C (p.Pro917=)
c.2616T>C (p.Pro872=)
16g.28835668T>GCA494869011ATXN2Lc.2805T>G (p.Pro935=)
c.780T>G (p.Pro260=)
n.3179T>G
c.2823T>G (p.Pro941=)
c.1869T>G (n.1869T>G)
c.74T>G
c.783T>G (p.Pro261=)
c.325T>G
c.2826T>G (p.Pro942=)
c.2808T>G (p.Pro936=)
c.2646T>G (p.Pro882=)
c.2754T>G (p.Pro918=)
c.2736T>G (p.Pro912=)
c.2460T>G (p.Pro820=)
n.3035T>G
c.2628T>G (p.Pro876=)
c.2442T>G (p.Pro814=)
n.3038T>G
c.2733T>G (p.Pro911=)
c.2799T>G (p.Pro933=)
c.2751T>G (p.Pro917=)
c.2616T>G (p.Pro872=)
16g.28835669C>ACA395408310ATXN2Lc.2806C>A (p.Gln936Lys)
c.781C>A (p.Gln261Lys)
n.3180C>A
c.1C>A (p.Gln1Lys)
c.2824C>A (p.Gln942Lys)
c.1870C>A (n.1870C>A)
c.75C>A
c.784C>A (p.Gln262Lys)
c.326C>A
c.2827C>A (p.Gln943Lys)
c.2809C>A (p.Gln937Lys)
c.2647C>A (p.Gln883Lys)
c.2755C>A (p.Gln919Lys)
c.2737C>A (p.Gln913Lys)
c.2461C>A (p.Gln821Lys)
n.3036C>A
c.2629C>A (p.Gln877Lys)
c.2443C>A (p.Gln815Lys)
n.3039C>A
c.2734C>A (p.Gln912Lys)
c.2800C>A (p.Gln934Lys)
c.2752C>A (p.Gln918Lys)
c.2617C>A (p.Gln873Lys)
16g.28835669C>GCA395408308ATXN2Lc.2806C>G (p.Gln936Glu)
c.781C>G (p.Gln261Glu)
n.3180C>G
c.1C>G (p.Gln1Glu)
c.2824C>G (p.Gln942Glu)
c.1870C>G (n.1870C>G)
c.75C>G
c.784C>G (p.Gln262Glu)
c.326C>G
c.2827C>G (p.Gln943Glu)
c.2809C>G (p.Gln937Glu)
c.2647C>G (p.Gln883Glu)
c.2755C>G (p.Gln919Glu)
c.2737C>G (p.Gln913Glu)
c.2461C>G (p.Gln821Glu)
n.3036C>G
c.2629C>G (p.Gln877Glu)
c.2443C>G (p.Gln815Glu)
n.3039C>G
c.2734C>G (p.Gln912Glu)
c.2800C>G (p.Gln934Glu)
c.2752C>G (p.Gln918Glu)
c.2617C>G (p.Gln873Glu)
16g.28835669C>TCA395408309ATXN2Lc.2806C>T (p.Gln936Ter)
c.781C>T (p.Gln261Ter)
n.3180C>T
c.1C>T (p.Gln1Ter)
c.2824C>T (p.Gln942Ter)
c.1870C>T (n.1870C>T)
c.75C>T
c.784C>T (p.Gln262Ter)
c.326C>T
c.2827C>T (p.Gln943Ter)
c.2809C>T (p.Gln937Ter)
c.2647C>T (p.Gln883Ter)
c.2755C>T (p.Gln919Ter)
c.2737C>T (p.Gln913Ter)
c.2461C>T (p.Gln821Ter)
n.3036C>T
c.2629C>T (p.Gln877Ter)
c.2443C>T (p.Gln815Ter)
n.3039C>T
c.2734C>T (p.Gln912Ter)
c.2800C>T (p.Gln934Ter)
c.2752C>T (p.Gln918Ter)
c.2617C>T (p.Gln873Ter)
16g.28835670A>CCA395408311ATXN2Lc.2807A>C (p.Gln936Pro)
c.782A>C (p.Gln261Pro)
n.3181A>C
c.2A>C (p.Gln1Pro)
c.2825A>C (p.Gln942Pro)
c.1871A>C (n.1871A>C)
c.76A>C
c.785A>C (p.Gln262Pro)
c.327A>C
c.2828A>C (p.Gln943Pro)
c.2810A>C (p.Gln937Pro)
c.2648A>C (p.Gln883Pro)
c.2756A>C (p.Gln919Pro)
c.2738A>C (p.Gln913Pro)
c.2462A>C (p.Gln821Pro)
n.3037A>C
c.2630A>C (p.Gln877Pro)
c.2444A>C (p.Gln815Pro)
n.3040A>C
c.2735A>C (p.Gln912Pro)
c.2801A>C (p.Gln934Pro)
c.2753A>C (p.Gln918Pro)
c.2618A>C (p.Gln873Pro)
16g.28835670A>GCA395408312ATXN2Lc.2807A>G (p.Gln936Arg)
c.782A>G (p.Gln261Arg)
n.3181A>G
c.2A>G (p.Gln1Arg)
c.2825A>G (p.Gln942Arg)
c.1871A>G (n.1871A>G)
c.76A>G
c.785A>G (p.Gln262Arg)
c.327A>G
c.2828A>G (p.Gln943Arg)
c.2810A>G (p.Gln937Arg)
c.2648A>G (p.Gln883Arg)
c.2756A>G (p.Gln919Arg)
c.2738A>G (p.Gln913Arg)
c.2462A>G (p.Gln821Arg)
n.3037A>G
c.2630A>G (p.Gln877Arg)
c.2444A>G (p.Gln815Arg)
n.3040A>G
c.2735A>G (p.Gln912Arg)
c.2801A>G (p.Gln934Arg)
c.2753A>G (p.Gln918Arg)
c.2618A>G (p.Gln873Arg)
16g.28835670A>TCA395408313ATXN2Lc.2807A>T (p.Gln936Leu)
c.782A>T (p.Gln261Leu)
n.3181A>T
c.2A>T (p.Gln1Leu)
c.2825A>T (p.Gln942Leu)
c.1871A>T (n.1871A>T)
c.76A>T
c.785A>T (p.Gln262Leu)
c.327A>T
c.2828A>T (p.Gln943Leu)
c.2810A>T (p.Gln937Leu)
c.2648A>T (p.Gln883Leu)
c.2756A>T (p.Gln919Leu)
c.2738A>T (p.Gln913Leu)
c.2462A>T (p.Gln821Leu)
n.3037A>T
c.2630A>T (p.Gln877Leu)
c.2444A>T (p.Gln815Leu)
n.3040A>T
c.2735A>T (p.Gln912Leu)
c.2801A>T (p.Gln934Leu)
c.2753A>T (p.Gln918Leu)
c.2618A>T (p.Gln873Leu)
16g.28835671G>ACA494869038ATXN2Lc.2808G>A (p.Gln936=)
c.783G>A (p.Gln261=)
n.3182G>A
c.3G>A (p.Gln1=)
c.2826G>A (p.Gln942=)
c.1872G>A (n.1872G>A)
c.77G>A
c.786G>A (p.Gln262=)
c.328G>A
c.2829G>A (p.Gln943=)
c.2811G>A (p.Gln937=)
c.2649G>A (p.Gln883=)
c.2757G>A (p.Gln919=)
c.2739G>A (p.Gln913=)
c.2463G>A (p.Gln821=)
n.3038G>A
c.2631G>A (p.Gln877=)
c.2445G>A (p.Gln815=)
n.3041G>A
c.2736G>A (p.Gln912=)
c.2802G>A (p.Gln934=)
c.2754G>A (p.Gln918=)
c.2619G>A (p.Gln873=)
16g.28835671G>CCA395408314ATXN2Lc.2808G>C (p.Gln936His)
c.783G>C (p.Gln261His)
n.3182G>C
c.3G>C (p.Gln1His)
c.2826G>C (p.Gln942His)
c.1872G>C (n.1872G>C)
c.77G>C
c.786G>C (p.Gln262His)
c.328G>C
c.2829G>C (p.Gln943His)
c.2811G>C (p.Gln937His)
c.2649G>C (p.Gln883His)
c.2757G>C (p.Gln919His)
c.2739G>C (p.Gln913His)
c.2463G>C (p.Gln821His)
n.3038G>C
c.2631G>C (p.Gln877His)
c.2445G>C (p.Gln815His)
n.3041G>C
c.2736G>C (p.Gln912His)
c.2802G>C (p.Gln934His)
c.2754G>C (p.Gln918His)
c.2619G>C (p.Gln873His)
16g.28835671G>TCA395408315ATXN2Lc.2808G>T (p.Gln936His)
c.783G>T (p.Gln261His)
n.3182G>T
c.3G>T (p.Gln1His)
c.2826G>T (p.Gln942His)
c.1872G>T (n.1872G>T)
c.77G>T
c.786G>T (p.Gln262His)
c.328G>T
c.2829G>T (p.Gln943His)
c.2811G>T (p.Gln937His)
c.2649G>T (p.Gln883His)
c.2757G>T (p.Gln919His)
c.2739G>T (p.Gln913His)
c.2463G>T (p.Gln821His)
n.3038G>T
c.2631G>T (p.Gln877His)
c.2445G>T (p.Gln815His)
n.3041G>T
c.2736G>T (p.Gln912His)
c.2802G>T (p.Gln934His)
c.2754G>T (p.Gln918His)
c.2619G>T (p.Gln873His)

Number of alleles fetched