Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28835935C>ACA494868120ATXN2Lc.2898C>A (p.Ala966=)
c.873C>A (p.Ala291=)
n.3272C>A
c.93C>A (p.Ala31=)
c.2916C>A (p.Ala972=)
c.1962C>A (n.1962C>A)
c.167C>A
c.876C>A (p.Ala292=)
c.418C>A
c.2919C>A (p.Ala973=)
c.2901C>A (p.Ala967=)
c.2739C>A (p.Ala913=)
c.2847C>A (p.Ala949=)
c.2829C>A (p.Ala943=)
c.2553C>A (p.Ala851=)
n.3128C>A
c.2721C>A (p.Ala907=)
c.2535C>A (p.Ala845=)
n.3131C>A
c.2826C>A (p.Ala942=)
c.2892C>A (p.Ala964=)
c.2844C>A (p.Ala948=)
c.2709C>A (p.Ala903=)
c.2895+177C>A (n.2895+177C>A)
 gnomAD v4
16g.28835935C=CA2215806735ATXN2Lc.2898C= (p.Ala966=)
c.873C= (p.Ala291=)
n.3272C=
c.93C= (p.Ala31=)
c.2916C= (p.Ala972=)
c.1962C= (n.1962C=)
c.167C=
c.876C= (p.Ala292=)
c.418C=
c.2919C= (p.Ala973=)
c.2901C= (p.Ala967=)
c.2739C= (p.Ala913=)
c.2847C= (p.Ala949=)
c.2829C= (p.Ala943=)
c.2553C= (p.Ala851=)
n.3128C=
c.2721C= (p.Ala907=)
c.2535C= (p.Ala845=)
n.3131C=
c.2826C= (p.Ala942=)
c.2892C= (p.Ala964=)
c.2844C= (p.Ala948=)
c.2709C= (p.Ala903=)
c.2895+177C= (n.2895+177C=)
16g.28835935C>GCA494868125ATXN2Lc.2898C>G (p.Ala966=)
c.873C>G (p.Ala291=)
n.3272C>G
c.93C>G (p.Ala31=)
c.2916C>G (p.Ala972=)
c.1962C>G (n.1962C>G)
c.167C>G
c.876C>G (p.Ala292=)
c.418C>G
c.2919C>G (p.Ala973=)
c.2901C>G (p.Ala967=)
c.2739C>G (p.Ala913=)
c.2847C>G (p.Ala949=)
c.2829C>G (p.Ala943=)
c.2553C>G (p.Ala851=)
n.3128C>G
c.2721C>G (p.Ala907=)
c.2535C>G (p.Ala845=)
n.3131C>G
c.2826C>G (p.Ala942=)
c.2892C>G (p.Ala964=)
c.2844C>G (p.Ala948=)
c.2709C>G (p.Ala903=)
c.2895+177C>G (n.2895+177C>G)
16g.28835935C>TCA7985138ATXN2Lc.2898C>T (p.Ala966=)
c.873C>T (p.Ala291=)
n.3272C>T
c.93C>T (p.Ala31=)
c.2916C>T (p.Ala972=)
c.1962C>T (n.1962C>T)
c.167C>T
c.876C>T (p.Ala292=)
c.418C>T
c.2919C>T (p.Ala973=)
c.2901C>T (p.Ala967=)
c.2739C>T (p.Ala913=)
c.2847C>T (p.Ala949=)
c.2829C>T (p.Ala943=)
c.2553C>T (p.Ala851=)
n.3128C>T
c.2721C>T (p.Ala907=)
c.2535C>T (p.Ala845=)
n.3131C>T
c.2826C>T (p.Ala942=)
c.2892C>T (p.Ala964=)
c.2844C>T (p.Ala948=)
c.2709C>T (p.Ala903=)
c.2895+177C>T (n.2895+177C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835936C>ACA395408746ATXN2Lc.2899C>A (p.His967Asn)
c.874C>A (p.His292Asn)
n.3273C>A
c.94C>A (p.His32Asn)
c.2917C>A (p.His973Asn)
c.1963C>A (n.1963C>A)
c.168C>A
c.877C>A (p.His293Asn)
c.419C>A
c.2920C>A (p.His974Asn)
c.2902C>A (p.His968Asn)
c.2740C>A (p.His914Asn)
c.2848C>A (p.His950Asn)
c.2830C>A (p.His944Asn)
c.2554C>A (p.His852Asn)
n.3129C>A
c.2722C>A (p.His908Asn)
c.2536C>A (p.His846Asn)
n.3132C>A
c.2827C>A (p.His943Asn)
c.2893C>A (p.His965Asn)
c.2845C>A (p.His949Asn)
c.2710C>A (p.His904Asn)
c.2895+178C>A (n.2895+178C>A)
 gnomAD v4
16g.28835936C>GCA395408748ATXN2Lc.2899C>G (p.His967Asp)
c.874C>G (p.His292Asp)
n.3273C>G
c.94C>G (p.His32Asp)
c.2917C>G (p.His973Asp)
c.1963C>G (n.1963C>G)
c.168C>G
c.877C>G (p.His293Asp)
c.419C>G
c.2920C>G (p.His974Asp)
c.2902C>G (p.His968Asp)
c.2740C>G (p.His914Asp)
c.2848C>G (p.His950Asp)
c.2830C>G (p.His944Asp)
c.2554C>G (p.His852Asp)
n.3129C>G
c.2722C>G (p.His908Asp)
c.2536C>G (p.His846Asp)
n.3132C>G
c.2827C>G (p.His943Asp)
c.2893C>G (p.His965Asp)
c.2845C>G (p.His949Asp)
c.2710C>G (p.His904Asp)
c.2895+178C>G (n.2895+178C>G)
16g.28835936C>TCA395408749ATXN2Lc.2899C>T (p.His967Tyr)
c.874C>T (p.His292Tyr)
n.3273C>T
c.94C>T (p.His32Tyr)
c.2917C>T (p.His973Tyr)
c.1963C>T (n.1963C>T)
c.168C>T
c.877C>T (p.His293Tyr)
c.419C>T
c.2920C>T (p.His974Tyr)
c.2902C>T (p.His968Tyr)
c.2740C>T (p.His914Tyr)
c.2848C>T (p.His950Tyr)
c.2830C>T (p.His944Tyr)
c.2554C>T (p.His852Tyr)
n.3129C>T
c.2722C>T (p.His908Tyr)
c.2536C>T (p.His846Tyr)
n.3132C>T
c.2827C>T (p.His943Tyr)
c.2893C>T (p.His965Tyr)
c.2845C>T (p.His949Tyr)
c.2710C>T (p.His904Tyr)
c.2895+178C>T (n.2895+178C>T)
16g.28835937A=CA2215806738ATXN2Lc.2900A= (p.His967=)
c.875A= (p.His292=)
n.3274A=
c.95A= (p.His32=)
c.2918A= (p.His973=)
c.1964A= (n.1964A=)
c.169A=
c.878A= (p.His293=)
c.420A=
c.2921A= (p.His974=)
c.2903A= (p.His968=)
c.2741A= (p.His914=)
c.2849A= (p.His950=)
c.2831A= (p.His944=)
c.2555A= (p.His852=)
n.3130A=
c.2723A= (p.His908=)
c.2537A= (p.His846=)
n.3133A=
c.2828A= (p.His943=)
c.2894A= (p.His965=)
c.2846A= (p.His949=)
c.2711A= (p.His904=)
c.2895+179A= (n.2895+179A=)
16g.28835937A>CCA395408752ATXN2Lc.2900A>C (p.His967Pro)
c.875A>C (p.His292Pro)
n.3274A>C
c.95A>C (p.His32Pro)
c.2918A>C (p.His973Pro)
c.1964A>C (n.1964A>C)
c.169A>C
c.878A>C (p.His293Pro)
c.420A>C
c.2921A>C (p.His974Pro)
c.2903A>C (p.His968Pro)
c.2741A>C (p.His914Pro)
c.2849A>C (p.His950Pro)
c.2831A>C (p.His944Pro)
c.2555A>C (p.His852Pro)
n.3130A>C
c.2723A>C (p.His908Pro)
c.2537A>C (p.His846Pro)
n.3133A>C
c.2828A>C (p.His943Pro)
c.2894A>C (p.His965Pro)
c.2846A>C (p.His949Pro)
c.2711A>C (p.His904Pro)
c.2895+179A>C (n.2895+179A>C)
16g.28835937A>GCA395408753ATXN2Lc.2900A>G (p.His967Arg)
c.875A>G (p.His292Arg)
n.3274A>G
c.95A>G (p.His32Arg)
c.2918A>G (p.His973Arg)
c.1964A>G (n.1964A>G)
c.169A>G
c.878A>G (p.His293Arg)
c.420A>G
c.2921A>G (p.His974Arg)
c.2903A>G (p.His968Arg)
c.2741A>G (p.His914Arg)
c.2849A>G (p.His950Arg)
c.2831A>G (p.His944Arg)
c.2555A>G (p.His852Arg)
n.3130A>G
c.2723A>G (p.His908Arg)
c.2537A>G (p.His846Arg)
n.3133A>G
c.2828A>G (p.His943Arg)
c.2894A>G (p.His965Arg)
c.2846A>G (p.His949Arg)
c.2711A>G (p.His904Arg)
c.2895+179A>G (n.2895+179A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.28835937A>TCA395408755ATXN2Lc.2900A>T (p.His967Leu)
c.875A>T (p.His292Leu)
n.3274A>T
c.95A>T (p.His32Leu)
c.2918A>T (p.His973Leu)
c.1964A>T (n.1964A>T)
c.169A>T
c.878A>T (p.His293Leu)
c.420A>T
c.2921A>T (p.His974Leu)
c.2903A>T (p.His968Leu)
c.2741A>T (p.His914Leu)
c.2849A>T (p.His950Leu)
c.2831A>T (p.His944Leu)
c.2555A>T (p.His852Leu)
n.3130A>T
c.2723A>T (p.His908Leu)
c.2537A>T (p.His846Leu)
n.3133A>T
c.2828A>T (p.His943Leu)
c.2894A>T (p.His965Leu)
c.2846A>T (p.His949Leu)
c.2711A>T (p.His904Leu)
c.2895+179A>T (n.2895+179A>T)
16g.28835938delCA2741477270ATXN2Lc.2901del (p.His967GlnfsTer22)
c.876del (p.His292GlnfsTer22)
n.3275del
c.96del (p.His32GlnfsTer22)
c.2919del (p.His973GlnfsTer22)
c.1965del (n.1965del)
c.170del
c.879del (p.His293GlnfsTer22)
c.421del
c.2922del (p.His974GlnfsTer22)
c.2904del (p.His968GlnfsTer22)
c.2742del (p.His914GlnfsTer22)
c.2850del (p.His950GlnfsTer22)
c.2832del (p.His944GlnfsTer22)
c.2556del (p.His852GlnfsTer22)
n.3131del
c.2724del (p.His908GlnfsTer22)
c.2538del (p.His846GlnfsTer22)
n.3134del
c.2829del (p.His943GlnfsTer22)
c.2895del (p.His965GlnfsTer22)
c.2847del (p.His949GlnfsTer22)
c.2712del (p.His904GlnfsTer22)
c.2895+180del (n.2895+180del)
16g.28835938T>ACA395408756ATXN2Lc.2901T>A (p.His967Gln)
c.876T>A (p.His292Gln)
n.3275T>A
c.96T>A (p.His32Gln)
c.2919T>A (p.His973Gln)
c.1965T>A (n.1965T>A)
c.170T>A
c.879T>A (p.His293Gln)
c.421T>A
c.2922T>A (p.His974Gln)
c.2904T>A (p.His968Gln)
c.2742T>A (p.His914Gln)
c.2850T>A (p.His950Gln)
c.2832T>A (p.His944Gln)
c.2556T>A (p.His852Gln)
n.3131T>A
c.2724T>A (p.His908Gln)
c.2538T>A (p.His846Gln)
n.3134T>A
c.2829T>A (p.His943Gln)
c.2895T>A (p.His965Gln)
c.2847T>A (p.His949Gln)
c.2712T>A (p.His904Gln)
c.2895+180T>A (n.2895+180T>A)
16g.28835938T>CCA494868150ATXN2Lc.2901T>C (p.His967=)
c.876T>C (p.His292=)
n.3275T>C
c.96T>C (p.His32=)
c.2919T>C (p.His973=)
c.1965T>C (n.1965T>C)
c.170T>C
c.879T>C (p.His293=)
c.421T>C
c.2922T>C (p.His974=)
c.2904T>C (p.His968=)
c.2742T>C (p.His914=)
c.2850T>C (p.His950=)
c.2832T>C (p.His944=)
c.2556T>C (p.His852=)
n.3131T>C
c.2724T>C (p.His908=)
c.2538T>C (p.His846=)
n.3134T>C
c.2829T>C (p.His943=)
c.2895T>C (p.His965=)
c.2847T>C (p.His949=)
c.2712T>C (p.His904=)
c.2895+180T>C (n.2895+180T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.28835938T>GCA395408757ATXN2Lc.2901T>G (p.His967Gln)
c.876T>G (p.His292Gln)
n.3275T>G
c.96T>G (p.His32Gln)
c.2919T>G (p.His973Gln)
c.1965T>G (n.1965T>G)
c.170T>G
c.879T>G (p.His293Gln)
c.421T>G
c.2922T>G (p.His974Gln)
c.2904T>G (p.His968Gln)
c.2742T>G (p.His914Gln)
c.2850T>G (p.His950Gln)
c.2832T>G (p.His944Gln)
c.2556T>G (p.His852Gln)
n.3131T>G
c.2724T>G (p.His908Gln)
c.2538T>G (p.His846Gln)
n.3134T>G
c.2829T>G (p.His943Gln)
c.2895T>G (p.His965Gln)
c.2847T>G (p.His949Gln)
c.2712T>G (p.His904Gln)
c.2895+180T>G (n.2895+180T>G)
16g.28835938T=CA2215806740ATXN2Lc.2901T= (p.His967=)
c.876T= (p.His292=)
n.3275T=
c.96T= (p.His32=)
c.2919T= (p.His973=)
c.1965T= (n.1965T=)
c.170T=
c.879T= (p.His293=)
c.421T=
c.2922T= (p.His974=)
c.2904T= (p.His968=)
c.2742T= (p.His914=)
c.2850T= (p.His950=)
c.2832T= (p.His944=)
c.2556T= (p.His852=)
n.3131T=
c.2724T= (p.His908=)
c.2538T= (p.His846=)
n.3134T=
c.2829T= (p.His943=)
c.2895T= (p.His965=)
c.2847T= (p.His949=)
c.2712T= (p.His904=)
c.2895+180T= (n.2895+180T=)
16g.28835939G>ACA395408758ATXN2Lc.2902G>A (p.Val968Ile)
c.877G>A (p.Val293Ile)
n.3276G>A
c.97G>A (p.Val33Ile)
c.2920G>A (p.Val974Ile)
c.1966G>A (n.1966G>A)
c.171G>A
c.880G>A (p.Val294Ile)
c.422G>A
c.2923G>A (p.Val975Ile)
c.2905G>A (p.Val969Ile)
c.2743G>A (p.Val915Ile)
c.2851G>A (p.Val951Ile)
c.2833G>A (p.Val945Ile)
c.2557G>A (p.Val853Ile)
n.3132G>A
c.2725G>A (p.Val909Ile)
c.2539G>A (p.Val847Ile)
n.3135G>A
c.2830G>A (p.Val944Ile)
c.2896G>A (p.Val966Ile)
c.2848G>A (p.Val950Ile)
c.2713G>A (p.Val905Ile)
c.2895+181G>A (n.2895+181G>A)
16g.28835939G>CCA395408759ATXN2Lc.2902G>C (p.Val968Leu)
c.877G>C (p.Val293Leu)
n.3276G>C
c.97G>C (p.Val33Leu)
c.2920G>C (p.Val974Leu)
c.1966G>C (n.1966G>C)
c.171G>C
c.880G>C (p.Val294Leu)
c.422G>C
c.2923G>C (p.Val975Leu)
c.2905G>C (p.Val969Leu)
c.2743G>C (p.Val915Leu)
c.2851G>C (p.Val951Leu)
c.2833G>C (p.Val945Leu)
c.2557G>C (p.Val853Leu)
n.3132G>C
c.2725G>C (p.Val909Leu)
c.2539G>C (p.Val847Leu)
n.3135G>C
c.2830G>C (p.Val944Leu)
c.2896G>C (p.Val966Leu)
c.2848G>C (p.Val950Leu)
c.2713G>C (p.Val905Leu)
c.2895+181G>C (n.2895+181G>C)
16g.28835939G>TCA395408760ATXN2Lc.2902G>T (p.Val968Phe)
c.877G>T (p.Val293Phe)
n.3276G>T
c.97G>T (p.Val33Phe)
c.2920G>T (p.Val974Phe)
c.1966G>T (n.1966G>T)
c.171G>T
c.880G>T (p.Val294Phe)
c.422G>T
c.2923G>T (p.Val975Phe)
c.2905G>T (p.Val969Phe)
c.2743G>T (p.Val915Phe)
c.2851G>T (p.Val951Phe)
c.2833G>T (p.Val945Phe)
c.2557G>T (p.Val853Phe)
n.3132G>T
c.2725G>T (p.Val909Phe)
c.2539G>T (p.Val847Phe)
n.3135G>T
c.2830G>T (p.Val944Phe)
c.2896G>T (p.Val966Phe)
c.2848G>T (p.Val950Phe)
c.2713G>T (p.Val905Phe)
c.2895+181G>T (n.2895+181G>T)
 gnomAD v4
16g.28835940T>ACA395408761ATXN2Lc.2903T>A (p.Val968Asp)
c.878T>A (p.Val293Asp)
n.3277T>A
c.98T>A (p.Val33Asp)
c.2921T>A (p.Val974Asp)
c.1967T>A (n.1967T>A)
c.172T>A
c.881T>A (p.Val294Asp)
c.423T>A
c.2924T>A (p.Val975Asp)
c.2906T>A (p.Val969Asp)
c.2744T>A (p.Val915Asp)
c.2852T>A (p.Val951Asp)
c.2834T>A (p.Val945Asp)
c.2558T>A (p.Val853Asp)
n.3133T>A
c.2726T>A (p.Val909Asp)
c.2540T>A (p.Val847Asp)
n.3136T>A
c.2831T>A (p.Val944Asp)
c.2897T>A (p.Val966Asp)
c.2849T>A (p.Val950Asp)
c.2714T>A (p.Val905Asp)
c.2896-183T>A (n.2896-183T>A)
16g.28835940T>CCA395408762ATXN2Lc.2903T>C (p.Val968Ala)
c.878T>C (p.Val293Ala)
n.3277T>C
c.98T>C (p.Val33Ala)
c.2921T>C (p.Val974Ala)
c.1967T>C (n.1967T>C)
c.172T>C
c.881T>C (p.Val294Ala)
c.423T>C
c.2924T>C (p.Val975Ala)
c.2906T>C (p.Val969Ala)
c.2744T>C (p.Val915Ala)
c.2852T>C (p.Val951Ala)
c.2834T>C (p.Val945Ala)
c.2558T>C (p.Val853Ala)
n.3133T>C
c.2726T>C (p.Val909Ala)
c.2540T>C (p.Val847Ala)
n.3136T>C
c.2831T>C (p.Val944Ala)
c.2897T>C (p.Val966Ala)
c.2849T>C (p.Val950Ala)
c.2714T>C (p.Val905Ala)
c.2896-183T>C (n.2896-183T>C)
 gnomAD v4
16g.28835940T>GCA395408763ATXN2Lc.2903T>G (p.Val968Gly)
c.878T>G (p.Val293Gly)
n.3277T>G
c.98T>G (p.Val33Gly)
c.2921T>G (p.Val974Gly)
c.1967T>G (n.1967T>G)
c.172T>G
c.881T>G (p.Val294Gly)
c.423T>G
c.2924T>G (p.Val975Gly)
c.2906T>G (p.Val969Gly)
c.2744T>G (p.Val915Gly)
c.2852T>G (p.Val951Gly)
c.2834T>G (p.Val945Gly)
c.2558T>G (p.Val853Gly)
n.3133T>G
c.2726T>G (p.Val909Gly)
c.2540T>G (p.Val847Gly)
n.3136T>G
c.2831T>G (p.Val944Gly)
c.2897T>G (p.Val966Gly)
c.2849T>G (p.Val950Gly)
c.2714T>G (p.Val905Gly)
c.2896-183T>G (n.2896-183T>G)
16g.28835941C>ACA494868166ATXN2Lc.2904C>A (p.Val968=)
c.879C>A (p.Val293=)
n.3278C>A
c.99C>A (p.Val33=)
c.2922C>A (p.Val974=)
c.1968C>A (n.1968C>A)
c.173C>A
c.882C>A (p.Val294=)
c.424C>A
c.2925C>A (p.Val975=)
c.2907C>A (p.Val969=)
c.2745C>A (p.Val915=)
c.2853C>A (p.Val951=)
c.2835C>A (p.Val945=)
c.2559C>A (p.Val853=)
n.3134C>A
c.2727C>A (p.Val909=)
c.2541C>A (p.Val847=)
n.3137C>A
c.2832C>A (p.Val944=)
c.2898C>A (p.Val966=)
c.2850C>A (p.Val950=)
c.2715C>A (p.Val905=)
c.2896-182C>A (n.2896-182C>A)
16g.28835941C=CA2215806742ATXN2Lc.2904C= (p.Val968=)
c.879C= (p.Val293=)
n.3278C=
c.99C= (p.Val33=)
c.2922C= (p.Val974=)
c.1968C= (n.1968C=)
c.173C=
c.882C= (p.Val294=)
c.424C=
c.2925C= (p.Val975=)
c.2907C= (p.Val969=)
c.2745C= (p.Val915=)
c.2853C= (p.Val951=)
c.2835C= (p.Val945=)
c.2559C= (p.Val853=)
n.3134C=
c.2727C= (p.Val909=)
c.2541C= (p.Val847=)
n.3137C=
c.2832C= (p.Val944=)
c.2898C= (p.Val966=)
c.2850C= (p.Val950=)
c.2715C= (p.Val905=)
c.2896-182C= (n.2896-182C=)
16g.28835941C>GCA494868193ATXN2Lc.2904C>G (p.Val968=)
c.879C>G (p.Val293=)
n.3278C>G
c.99C>G (p.Val33=)
c.2922C>G (p.Val974=)
c.1968C>G (n.1968C>G)
c.173C>G
c.882C>G (p.Val294=)
c.424C>G
c.2925C>G (p.Val975=)
c.2907C>G (p.Val969=)
c.2745C>G (p.Val915=)
c.2853C>G (p.Val951=)
c.2835C>G (p.Val945=)
c.2559C>G (p.Val853=)
n.3134C>G
c.2727C>G (p.Val909=)
c.2541C>G (p.Val847=)
n.3137C>G
c.2832C>G (p.Val944=)
c.2898C>G (p.Val966=)
c.2850C>G (p.Val950=)
c.2715C>G (p.Val905=)
c.2896-182C>G (n.2896-182C>G)
16g.28835941C>TCA7985139ATXN2Lc.2904C>T (p.Val968=)
c.879C>T (p.Val293=)
n.3278C>T
c.99C>T (p.Val33=)
c.2922C>T (p.Val974=)
c.1968C>T (n.1968C>T)
c.173C>T
c.882C>T (p.Val294=)
c.424C>T
c.2925C>T (p.Val975=)
c.2907C>T (p.Val969=)
c.2745C>T (p.Val915=)
c.2853C>T (p.Val951=)
c.2835C>T (p.Val945=)
c.2559C>T (p.Val853=)
n.3134C>T
c.2727C>T (p.Val909=)
c.2541C>T (p.Val847=)
n.3137C>T
c.2832C>T (p.Val944=)
c.2898C>T (p.Val966=)
c.2850C>T (p.Val950=)
c.2715C>T (p.Val905=)
c.2896-182C>T (n.2896-182C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835942C>ACA395408766ATXN2Lc.2905C>A (p.Gln969Lys)
c.880C>A (p.Gln294Lys)
n.3279C>A
c.100C>A (p.Gln34Lys)
c.2923C>A (p.Gln975Lys)
c.1969C>A (n.1969C>A)
c.174C>A
c.883C>A (p.Gln295Lys)
c.425C>A
c.2926C>A (p.Gln976Lys)
c.2908C>A (p.Gln970Lys)
c.2746C>A (p.Gln916Lys)
c.2854C>A (p.Gln952Lys)
c.2836C>A (p.Gln946Lys)
c.2560C>A (p.Gln854Lys)
n.3135C>A
c.2728C>A (p.Gln910Lys)
c.2542C>A (p.Gln848Lys)
n.3138C>A
c.2833C>A (p.Gln945Lys)
c.2899C>A (p.Gln967Lys)
c.2851C>A (p.Gln951Lys)
c.2716C>A (p.Gln906Lys)
c.2896-181C>A (n.2896-181C>A)
 gnomAD v4
16g.28835942C>GCA395408764ATXN2Lc.2905C>G (p.Gln969Glu)
c.880C>G (p.Gln294Glu)
n.3279C>G
c.100C>G (p.Gln34Glu)
c.2923C>G (p.Gln975Glu)
c.1969C>G (n.1969C>G)
c.174C>G
c.883C>G (p.Gln295Glu)
c.425C>G
c.2926C>G (p.Gln976Glu)
c.2908C>G (p.Gln970Glu)
c.2746C>G (p.Gln916Glu)
c.2854C>G (p.Gln952Glu)
c.2836C>G (p.Gln946Glu)
c.2560C>G (p.Gln854Glu)
n.3135C>G
c.2728C>G (p.Gln910Glu)
c.2542C>G (p.Gln848Glu)
n.3138C>G
c.2833C>G (p.Gln945Glu)
c.2899C>G (p.Gln967Glu)
c.2851C>G (p.Gln951Glu)
c.2716C>G (p.Gln906Glu)
c.2896-181C>G (n.2896-181C>G)
16g.28835942C>TCA395408765ATXN2Lc.2905C>T (p.Gln969Ter)
c.880C>T (p.Gln294Ter)
n.3279C>T
c.100C>T (p.Gln34Ter)
c.2923C>T (p.Gln975Ter)
c.1969C>T (n.1969C>T)
c.174C>T
c.883C>T (p.Gln295Ter)
c.425C>T
c.2926C>T (p.Gln976Ter)
c.2908C>T (p.Gln970Ter)
c.2746C>T (p.Gln916Ter)
c.2854C>T (p.Gln952Ter)
c.2836C>T (p.Gln946Ter)
c.2560C>T (p.Gln854Ter)
n.3135C>T
c.2728C>T (p.Gln910Ter)
c.2542C>T (p.Gln848Ter)
n.3138C>T
c.2833C>T (p.Gln945Ter)
c.2899C>T (p.Gln967Ter)
c.2851C>T (p.Gln951Ter)
c.2716C>T (p.Gln906Ter)
c.2896-181C>T (n.2896-181C>T)
16g.28835943A>CCA395408767ATXN2Lc.2906A>C (p.Gln969Pro)
c.881A>C (p.Gln294Pro)
n.3280A>C
c.101A>C (p.Gln34Pro)
c.2924A>C (p.Gln975Pro)
c.1970A>C (n.1970A>C)
c.175A>C
c.884A>C (p.Gln295Pro)
c.426A>C
c.2927A>C (p.Gln976Pro)
c.2909A>C (p.Gln970Pro)
c.2747A>C (p.Gln916Pro)
c.2855A>C (p.Gln952Pro)
c.2837A>C (p.Gln946Pro)
c.2561A>C (p.Gln854Pro)
n.3136A>C
c.2729A>C (p.Gln910Pro)
c.2543A>C (p.Gln848Pro)
n.3139A>C
c.2834A>C (p.Gln945Pro)
c.2900A>C (p.Gln967Pro)
c.2852A>C (p.Gln951Pro)
c.2717A>C (p.Gln906Pro)
c.2896-180A>C (n.2896-180A>C)
16g.28835943A>GCA395408768ATXN2Lc.2906A>G (p.Gln969Arg)
c.881A>G (p.Gln294Arg)
n.3280A>G
c.101A>G (p.Gln34Arg)
c.2924A>G (p.Gln975Arg)
c.1970A>G (n.1970A>G)
c.175A>G
c.884A>G (p.Gln295Arg)
c.426A>G
c.2927A>G (p.Gln976Arg)
c.2909A>G (p.Gln970Arg)
c.2747A>G (p.Gln916Arg)
c.2855A>G (p.Gln952Arg)
c.2837A>G (p.Gln946Arg)
c.2561A>G (p.Gln854Arg)
n.3136A>G
c.2729A>G (p.Gln910Arg)
c.2543A>G (p.Gln848Arg)
n.3139A>G
c.2834A>G (p.Gln945Arg)
c.2900A>G (p.Gln967Arg)
c.2852A>G (p.Gln951Arg)
c.2717A>G (p.Gln906Arg)
c.2896-180A>G (n.2896-180A>G)
16g.28835943A>TCA395408769ATXN2Lc.2906A>T (p.Gln969Leu)
c.881A>T (p.Gln294Leu)
n.3280A>T
c.101A>T (p.Gln34Leu)
c.2924A>T (p.Gln975Leu)
c.1970A>T (n.1970A>T)
c.175A>T
c.884A>T (p.Gln295Leu)
c.426A>T
c.2927A>T (p.Gln976Leu)
c.2909A>T (p.Gln970Leu)
c.2747A>T (p.Gln916Leu)
c.2855A>T (p.Gln952Leu)
c.2837A>T (p.Gln946Leu)
c.2561A>T (p.Gln854Leu)
n.3136A>T
c.2729A>T (p.Gln910Leu)
c.2543A>T (p.Gln848Leu)
n.3139A>T
c.2834A>T (p.Gln945Leu)
c.2900A>T (p.Gln967Leu)
c.2852A>T (p.Gln951Leu)
c.2717A>T (p.Gln906Leu)
c.2896-180A>T (n.2896-180A>T)
16g.28835945delCA2632529127ATXN2Lc.2908del (p.Thr970LeufsTer19)
c.883del (p.Thr295LeufsTer19)
n.3282del
c.103del (p.Thr35LeufsTer19)
c.2926del (p.Thr976LeufsTer19)
c.1972del (n.1972del)
c.177del
c.886del (p.Thr296LeufsTer19)
c.428del
c.2929del (p.Thr977LeufsTer19)
c.2911del (p.Thr971LeufsTer19)
c.2749del (p.Thr917LeufsTer19)
c.2857del (p.Thr953LeufsTer19)
c.2839del (p.Thr947LeufsTer19)
c.2563del (p.Thr855LeufsTer19)
n.3138del
c.2731del (p.Thr911LeufsTer19)
c.2545del (p.Thr849LeufsTer19)
n.3141del
c.2836del (p.Thr946LeufsTer19)
c.2902del (p.Thr968LeufsTer19)
c.2854del (p.Thr952LeufsTer19)
c.2719del (p.Thr907LeufsTer19)
c.2896-178del (n.2896-178del)
 gnomAD v4
16g.28835944A>CCA395408770ATXN2Lc.2907A>C (p.Gln969His)
c.882A>C (p.Gln294His)
n.3281A>C
c.102A>C (p.Gln34His)
c.2925A>C (p.Gln975His)
c.1971A>C (n.1971A>C)
c.176A>C
c.885A>C (p.Gln295His)
c.427A>C
c.2928A>C (p.Gln976His)
c.2910A>C (p.Gln970His)
c.2748A>C (p.Gln916His)
c.2856A>C (p.Gln952His)
c.2838A>C (p.Gln946His)
c.2562A>C (p.Gln854His)
n.3137A>C
c.2730A>C (p.Gln910His)
c.2544A>C (p.Gln848His)
n.3140A>C
c.2835A>C (p.Gln945His)
c.2901A>C (p.Gln967His)
c.2853A>C (p.Gln951His)
c.2718A>C (p.Gln906His)
c.2896-179A>C (n.2896-179A>C)
16g.28835944A>GCA494868232ATXN2Lc.2907A>G (p.Gln969=)
c.882A>G (p.Gln294=)
n.3281A>G
c.102A>G (p.Gln34=)
c.2925A>G (p.Gln975=)
c.1971A>G (n.1971A>G)
c.176A>G
c.885A>G (p.Gln295=)
c.427A>G
c.2928A>G (p.Gln976=)
c.2910A>G (p.Gln970=)
c.2748A>G (p.Gln916=)
c.2856A>G (p.Gln952=)
c.2838A>G (p.Gln946=)
c.2562A>G (p.Gln854=)
n.3137A>G
c.2730A>G (p.Gln910=)
c.2544A>G (p.Gln848=)
n.3140A>G
c.2835A>G (p.Gln945=)
c.2901A>G (p.Gln967=)
c.2853A>G (p.Gln951=)
c.2718A>G (p.Gln906=)
c.2896-179A>G (n.2896-179A>G)
 gnomAD v4
16g.28835944A>TCA395408771ATXN2Lc.2907A>T (p.Gln969His)
c.882A>T (p.Gln294His)
n.3281A>T
c.102A>T (p.Gln34His)
c.2925A>T (p.Gln975His)
c.1971A>T (n.1971A>T)
c.176A>T
c.885A>T (p.Gln295His)
c.427A>T
c.2928A>T (p.Gln976His)
c.2910A>T (p.Gln970His)
c.2748A>T (p.Gln916His)
c.2856A>T (p.Gln952His)
c.2838A>T (p.Gln946His)
c.2562A>T (p.Gln854His)
n.3137A>T
c.2730A>T (p.Gln910His)
c.2544A>T (p.Gln848His)
n.3140A>T
c.2835A>T (p.Gln945His)
c.2901A>T (p.Gln967His)
c.2853A>T (p.Gln951His)
c.2718A>T (p.Gln906His)
c.2896-179A>T (n.2896-179A>T)
16g.28835945A>CCA395408772ATXN2Lc.2908A>C (p.Thr970Pro)
c.883A>C (p.Thr295Pro)
n.3282A>C
c.103A>C (p.Thr35Pro)
c.2926A>C (p.Thr976Pro)
c.1972A>C (n.1972A>C)
c.177A>C
c.886A>C (p.Thr296Pro)
c.428A>C
c.2929A>C (p.Thr977Pro)
c.2911A>C (p.Thr971Pro)
c.2749A>C (p.Thr917Pro)
c.2857A>C (p.Thr953Pro)
c.2839A>C (p.Thr947Pro)
c.2563A>C (p.Thr855Pro)
n.3138A>C
c.2731A>C (p.Thr911Pro)
c.2545A>C (p.Thr849Pro)
n.3141A>C
c.2836A>C (p.Thr946Pro)
c.2902A>C (p.Thr968Pro)
c.2854A>C (p.Thr952Pro)
c.2719A>C (p.Thr907Pro)
c.2896-178A>C (n.2896-178A>C)
16g.28835945A>GCA395408774ATXN2Lc.2908A>G (p.Thr970Ala)
c.883A>G (p.Thr295Ala)
n.3282A>G
c.103A>G (p.Thr35Ala)
c.2926A>G (p.Thr976Ala)
c.1972A>G (n.1972A>G)
c.177A>G
c.886A>G (p.Thr296Ala)
c.428A>G
c.2929A>G (p.Thr977Ala)
c.2911A>G (p.Thr971Ala)
c.2749A>G (p.Thr917Ala)
c.2857A>G (p.Thr953Ala)
c.2839A>G (p.Thr947Ala)
c.2563A>G (p.Thr855Ala)
n.3138A>G
c.2731A>G (p.Thr911Ala)
c.2545A>G (p.Thr849Ala)
n.3141A>G
c.2836A>G (p.Thr946Ala)
c.2902A>G (p.Thr968Ala)
c.2854A>G (p.Thr952Ala)
c.2719A>G (p.Thr907Ala)
c.2896-178A>G (n.2896-178A>G)
 gnomAD v4
16g.28835945A>TCA395408773ATXN2Lc.2908A>T (p.Thr970Ser)
c.883A>T (p.Thr295Ser)
n.3282A>T
c.103A>T (p.Thr35Ser)
c.2926A>T (p.Thr976Ser)
c.1972A>T (n.1972A>T)
c.177A>T
c.886A>T (p.Thr296Ser)
c.428A>T
c.2929A>T (p.Thr977Ser)
c.2911A>T (p.Thr971Ser)
c.2749A>T (p.Thr917Ser)
c.2857A>T (p.Thr953Ser)
c.2839A>T (p.Thr947Ser)
c.2563A>T (p.Thr855Ser)
n.3138A>T
c.2731A>T (p.Thr911Ser)
c.2545A>T (p.Thr849Ser)
n.3141A>T
c.2836A>T (p.Thr946Ser)
c.2902A>T (p.Thr968Ser)
c.2854A>T (p.Thr952Ser)
c.2719A>T (p.Thr907Ser)
c.2896-178A>T (n.2896-178A>T)
16g.28835946C>ACA395408775ATXN2Lc.2909C>A (p.Thr970Asn)
c.884C>A (p.Thr295Asn)
n.3283C>A
c.104C>A (p.Thr35Asn)
c.2927C>A (p.Thr976Asn)
c.1973C>A (n.1973C>A)
c.178C>A
c.887C>A (p.Thr296Asn)
c.429C>A
c.2930C>A (p.Thr977Asn)
c.2912C>A (p.Thr971Asn)
c.2750C>A (p.Thr917Asn)
c.2858C>A (p.Thr953Asn)
c.2840C>A (p.Thr947Asn)
c.2564C>A (p.Thr855Asn)
n.3139C>A
c.2732C>A (p.Thr911Asn)
c.2546C>A (p.Thr849Asn)
n.3142C>A
c.2837C>A (p.Thr946Asn)
c.2903C>A (p.Thr968Asn)
c.2855C>A (p.Thr952Asn)
c.2720C>A (p.Thr907Asn)
c.2896-177C>A (n.2896-177C>A)
 gnomAD v4
16g.28835946C>GCA395408776ATXN2Lc.2909C>G (p.Thr970Ser)
c.884C>G (p.Thr295Ser)
n.3283C>G
c.104C>G (p.Thr35Ser)
c.2927C>G (p.Thr976Ser)
c.1973C>G (n.1973C>G)
c.178C>G
c.887C>G (p.Thr296Ser)
c.429C>G
c.2930C>G (p.Thr977Ser)
c.2912C>G (p.Thr971Ser)
c.2750C>G (p.Thr917Ser)
c.2858C>G (p.Thr953Ser)
c.2840C>G (p.Thr947Ser)
c.2564C>G (p.Thr855Ser)
n.3139C>G
c.2732C>G (p.Thr911Ser)
c.2546C>G (p.Thr849Ser)
n.3142C>G
c.2837C>G (p.Thr946Ser)
c.2903C>G (p.Thr968Ser)
c.2855C>G (p.Thr952Ser)
c.2720C>G (p.Thr907Ser)
c.2896-177C>G (n.2896-177C>G)
16g.28835946C>TCA395408777ATXN2Lc.2909C>T (p.Thr970Ile)
c.884C>T (p.Thr295Ile)
n.3283C>T
c.104C>T (p.Thr35Ile)
c.2927C>T (p.Thr976Ile)
c.1973C>T (n.1973C>T)
c.178C>T
c.887C>T (p.Thr296Ile)
c.429C>T
c.2930C>T (p.Thr977Ile)
c.2912C>T (p.Thr971Ile)
c.2750C>T (p.Thr917Ile)
c.2858C>T (p.Thr953Ile)
c.2840C>T (p.Thr947Ile)
c.2564C>T (p.Thr855Ile)
n.3139C>T
c.2732C>T (p.Thr911Ile)
c.2546C>T (p.Thr849Ile)
n.3142C>T
c.2837C>T (p.Thr946Ile)
c.2903C>T (p.Thr968Ile)
c.2855C>T (p.Thr952Ile)
c.2720C>T (p.Thr907Ile)
c.2896-177C>T (n.2896-177C>T)
 gnomAD v4
16g.28835947T>ACA494868255ATXN2Lc.2910T>A (p.Thr970=)
c.885T>A (p.Thr295=)
n.3284T>A
c.105T>A (p.Thr35=)
c.2928T>A (p.Thr976=)
c.1974T>A (n.1974T>A)
c.179T>A
c.888T>A (p.Thr296=)
c.430T>A
c.2931T>A (p.Thr977=)
c.2913T>A (p.Thr971=)
c.2751T>A (p.Thr917=)
c.2859T>A (p.Thr953=)
c.2841T>A (p.Thr947=)
c.2565T>A (p.Thr855=)
n.3140T>A
c.2733T>A (p.Thr911=)
c.2547T>A (p.Thr849=)
n.3143T>A
c.2838T>A (p.Thr946=)
c.2904T>A (p.Thr968=)
c.2856T>A (p.Thr952=)
c.2721T>A (p.Thr907=)
c.2896-176T>A (n.2896-176T>A)
16g.28835947T>CCA494868257ATXN2Lc.2910T>C (p.Thr970=)
c.885T>C (p.Thr295=)
n.3284T>C
c.105T>C (p.Thr35=)
c.2928T>C (p.Thr976=)
c.1974T>C (n.1974T>C)
c.179T>C
c.888T>C (p.Thr296=)
c.430T>C
c.2931T>C (p.Thr977=)
c.2913T>C (p.Thr971=)
c.2751T>C (p.Thr917=)
c.2859T>C (p.Thr953=)
c.2841T>C (p.Thr947=)
c.2565T>C (p.Thr855=)
n.3140T>C
c.2733T>C (p.Thr911=)
c.2547T>C (p.Thr849=)
n.3143T>C
c.2838T>C (p.Thr946=)
c.2904T>C (p.Thr968=)
c.2856T>C (p.Thr952=)
c.2721T>C (p.Thr907=)
c.2896-176T>C (n.2896-176T>C)
 gnomAD v4
16g.28835947T>GCA494868259ATXN2Lc.2910T>G (p.Thr970=)
c.885T>G (p.Thr295=)
n.3284T>G
c.105T>G (p.Thr35=)
c.2928T>G (p.Thr976=)
c.1974T>G (n.1974T>G)
c.179T>G
c.888T>G (p.Thr296=)
c.430T>G
c.2931T>G (p.Thr977=)
c.2913T>G (p.Thr971=)
c.2751T>G (p.Thr917=)
c.2859T>G (p.Thr953=)
c.2841T>G (p.Thr947=)
c.2565T>G (p.Thr855=)
n.3140T>G
c.2733T>G (p.Thr911=)
c.2547T>G (p.Thr849=)
n.3143T>G
c.2838T>G (p.Thr946=)
c.2904T>G (p.Thr968=)
c.2856T>G (p.Thr952=)
c.2721T>G (p.Thr907=)
c.2896-176T>G (n.2896-176T>G)
16g.28835948G>ACA395408778ATXN2Lc.2911G>A (p.Gly971Arg)
c.886G>A (p.Gly296Arg)
n.3285G>A
c.106G>A (p.Gly36Arg)
c.2929G>A (p.Gly977Arg)
c.1975G>A (n.1975G>A)
c.180G>A
c.889G>A (p.Gly297Arg)
c.431G>A
c.2932G>A (p.Gly978Arg)
c.2914G>A (p.Gly972Arg)
c.2752G>A (p.Gly918Arg)
c.2860G>A (p.Gly954Arg)
c.2842G>A (p.Gly948Arg)
c.2566G>A (p.Gly856Arg)
n.3141G>A
c.2734G>A (p.Gly912Arg)
c.2548G>A (p.Gly850Arg)
n.3144G>A
c.2839G>A (p.Gly947Arg)
c.2905G>A (p.Gly969Arg)
c.2857G>A (p.Gly953Arg)
c.2722G>A (p.Gly908Arg)
c.2896-175G>A (n.2896-175G>A)
 COSMIC COSMIC
16g.28835948G>CCA395408779ATXN2Lc.2911G>C (p.Gly971Arg)
c.886G>C (p.Gly296Arg)
n.3285G>C
c.106G>C (p.Gly36Arg)
c.2929G>C (p.Gly977Arg)
c.1975G>C (n.1975G>C)
c.180G>C
c.889G>C (p.Gly297Arg)
c.431G>C
c.2932G>C (p.Gly978Arg)
c.2914G>C (p.Gly972Arg)
c.2752G>C (p.Gly918Arg)
c.2860G>C (p.Gly954Arg)
c.2842G>C (p.Gly948Arg)
c.2566G>C (p.Gly856Arg)
n.3141G>C
c.2734G>C (p.Gly912Arg)
c.2548G>C (p.Gly850Arg)
n.3144G>C
c.2839G>C (p.Gly947Arg)
c.2905G>C (p.Gly969Arg)
c.2857G>C (p.Gly953Arg)
c.2722G>C (p.Gly908Arg)
c.2896-175G>C (n.2896-175G>C)
16g.28835948G>TCA395408780ATXN2Lc.2911G>T (p.Gly971Ter)
c.886G>T (p.Gly296Ter)
n.3285G>T
c.106G>T (p.Gly36Ter)
c.2929G>T (p.Gly977Ter)
c.1975G>T (n.1975G>T)
c.180G>T
c.889G>T (p.Gly297Ter)
c.431G>T
c.2932G>T (p.Gly978Ter)
c.2914G>T (p.Gly972Ter)
c.2752G>T (p.Gly918Ter)
c.2860G>T (p.Gly954Ter)
c.2842G>T (p.Gly948Ter)
c.2566G>T (p.Gly856Ter)
n.3141G>T
c.2734G>T (p.Gly912Ter)
c.2548G>T (p.Gly850Ter)
n.3144G>T
c.2839G>T (p.Gly947Ter)
c.2905G>T (p.Gly969Ter)
c.2857G>T (p.Gly953Ter)
c.2722G>T (p.Gly908Ter)
c.2896-175G>T (n.2896-175G>T)
16g.28835949G>ACA395408783ATXN2Lc.2912G>A (p.Gly971Glu)
c.887G>A (p.Gly296Glu)
n.3286G>A
c.107G>A (p.Gly36Glu)
c.2930G>A (p.Gly977Glu)
c.1976G>A (n.1976G>A)
c.181G>A
c.890G>A (p.Gly297Glu)
c.432G>A
c.2933G>A (p.Gly978Glu)
c.2915G>A (p.Gly972Glu)
c.2753G>A (p.Gly918Glu)
c.2861G>A (p.Gly954Glu)
c.2843G>A (p.Gly948Glu)
c.2567G>A (p.Gly856Glu)
n.3142G>A
c.2735G>A (p.Gly912Glu)
c.2549G>A (p.Gly850Glu)
n.3145G>A
c.2840G>A (p.Gly947Glu)
c.2906G>A (p.Gly969Glu)
c.2858G>A (p.Gly953Glu)
c.2723G>A (p.Gly908Glu)
c.2896-174G>A (n.2896-174G>A)
16g.28835949G>CCA395408785ATXN2Lc.2912G>C (p.Gly971Ala)
c.887G>C (p.Gly296Ala)
n.3286G>C
c.107G>C (p.Gly36Ala)
c.2930G>C (p.Gly977Ala)
c.1976G>C (n.1976G>C)
c.181G>C
c.890G>C (p.Gly297Ala)
c.432G>C
c.2933G>C (p.Gly978Ala)
c.2915G>C (p.Gly972Ala)
c.2753G>C (p.Gly918Ala)
c.2861G>C (p.Gly954Ala)
c.2843G>C (p.Gly948Ala)
c.2567G>C (p.Gly856Ala)
n.3142G>C
c.2735G>C (p.Gly912Ala)
c.2549G>C (p.Gly850Ala)
n.3145G>C
c.2840G>C (p.Gly947Ala)
c.2906G>C (p.Gly969Ala)
c.2858G>C (p.Gly953Ala)
c.2723G>C (p.Gly908Ala)
c.2896-174G>C (n.2896-174G>C)
16g.28835949G=CA2215806744ATXN2Lc.2912G= (p.Gly971=)
c.887G= (p.Gly296=)
n.3286G=
c.107G= (p.Gly36=)
c.2930G= (p.Gly977=)
c.1976G= (n.1976G=)
c.181G=
c.890G= (p.Gly297=)
c.432G=
c.2933G= (p.Gly978=)
c.2915G= (p.Gly972=)
c.2753G= (p.Gly918=)
c.2861G= (p.Gly954=)
c.2843G= (p.Gly948=)
c.2567G= (p.Gly856=)
n.3142G=
c.2735G= (p.Gly912=)
c.2549G= (p.Gly850=)
n.3145G=
c.2840G= (p.Gly947=)
c.2906G= (p.Gly969=)
c.2858G= (p.Gly953=)
c.2723G= (p.Gly908=)
c.2896-174G= (n.2896-174G=)
16g.28835949G>TCA395408786ATXN2Lc.2912G>T (p.Gly971Val)
c.887G>T (p.Gly296Val)
n.3286G>T
c.107G>T (p.Gly36Val)
c.2930G>T (p.Gly977Val)
c.1976G>T (n.1976G>T)
c.181G>T
c.890G>T (p.Gly297Val)
c.432G>T
c.2933G>T (p.Gly978Val)
c.2915G>T (p.Gly972Val)
c.2753G>T (p.Gly918Val)
c.2861G>T (p.Gly954Val)
c.2843G>T (p.Gly948Val)
c.2567G>T (p.Gly856Val)
n.3142G>T
c.2735G>T (p.Gly912Val)
c.2549G>T (p.Gly850Val)
n.3145G>T
c.2840G>T (p.Gly947Val)
c.2906G>T (p.Gly969Val)
c.2858G>T (p.Gly953Val)
c.2723G>T (p.Gly908Val)
c.2896-174G>T (n.2896-174G>T)
 dbSNP gnomAD v4
16g.28835950A=CA2215806746ATXN2Lc.2913A= (p.Gly971=)
c.888A= (p.Gly296=)
n.3287A=
c.108A= (p.Gly36=)
c.2931A= (p.Gly977=)
c.1977A= (n.1977A=)
c.182A=
c.891A= (p.Gly297=)
c.433A=
c.2934A= (p.Gly978=)
c.2916A= (p.Gly972=)
c.2754A= (p.Gly918=)
c.2862A= (p.Gly954=)
c.2844A= (p.Gly948=)
c.2568A= (p.Gly856=)
n.3143A=
c.2736A= (p.Gly912=)
c.2550A= (p.Gly850=)
n.3146A=
c.2841A= (p.Gly947=)
c.2907A= (p.Gly969=)
c.2859A= (p.Gly953=)
c.2724A= (p.Gly908=)
c.2896-173A= (n.2896-173A=)
16g.28835950A>CCA494868304ATXN2Lc.2913A>C (p.Gly971=)
c.888A>C (p.Gly296=)
n.3287A>C
c.108A>C (p.Gly36=)
c.2931A>C (p.Gly977=)
c.1977A>C (n.1977A>C)
c.182A>C
c.891A>C (p.Gly297=)
c.433A>C
c.2934A>C (p.Gly978=)
c.2916A>C (p.Gly972=)
c.2754A>C (p.Gly918=)
c.2862A>C (p.Gly954=)
c.2844A>C (p.Gly948=)
c.2568A>C (p.Gly856=)
n.3143A>C
c.2736A>C (p.Gly912=)
c.2550A>C (p.Gly850=)
n.3146A>C
c.2841A>C (p.Gly947=)
c.2907A>C (p.Gly969=)
c.2859A>C (p.Gly953=)
c.2724A>C (p.Gly908=)
c.2896-173A>C (n.2896-173A>C)
16g.28835950A>GCA494868270ATXN2Lc.2913A>G (p.Gly971=)
c.888A>G (p.Gly296=)
n.3287A>G
c.108A>G (p.Gly36=)
c.2931A>G (p.Gly977=)
c.1977A>G (n.1977A>G)
c.182A>G
c.891A>G (p.Gly297=)
c.433A>G
c.2934A>G (p.Gly978=)
c.2916A>G (p.Gly972=)
c.2754A>G (p.Gly918=)
c.2862A>G (p.Gly954=)
c.2844A>G (p.Gly948=)
c.2568A>G (p.Gly856=)
n.3143A>G
c.2736A>G (p.Gly912=)
c.2550A>G (p.Gly850=)
n.3146A>G
c.2841A>G (p.Gly947=)
c.2907A>G (p.Gly969=)
c.2859A>G (p.Gly953=)
c.2724A>G (p.Gly908=)
c.2896-173A>G (n.2896-173A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835950A>TCA494868272ATXN2Lc.2913A>T (p.Gly971=)
c.888A>T (p.Gly296=)
n.3287A>T
c.108A>T (p.Gly36=)
c.2931A>T (p.Gly977=)
c.1977A>T (n.1977A>T)
c.182A>T
c.891A>T (p.Gly297=)
c.433A>T
c.2934A>T (p.Gly978=)
c.2916A>T (p.Gly972=)
c.2754A>T (p.Gly918=)
c.2862A>T (p.Gly954=)
c.2844A>T (p.Gly948=)
c.2568A>T (p.Gly856=)
n.3143A>T
c.2736A>T (p.Gly912=)
c.2550A>T (p.Gly850=)
n.3146A>T
c.2841A>T (p.Gly947=)
c.2907A>T (p.Gly969=)
c.2859A>T (p.Gly953=)
c.2724A>T (p.Gly908=)
c.2896-173A>T (n.2896-173A>T)
16g.28835951A>CCA395408788ATXN2Lc.2914A>C (p.Ile972Leu)
c.889A>C (p.Ile297Leu)
n.3288A>C
c.109A>C (p.Ile37Leu)
c.2932A>C (p.Ile978Leu)
c.1978A>C (n.1978A>C)
c.183A>C
c.892A>C (p.Ile298Leu)
c.434A>C
c.2935A>C (p.Ile979Leu)
c.2917A>C (p.Ile973Leu)
c.2755A>C (p.Ile919Leu)
c.2863A>C (p.Ile955Leu)
c.2845A>C (p.Ile949Leu)
c.2569A>C (p.Ile857Leu)
n.3144A>C
c.2737A>C (p.Ile913Leu)
c.2551A>C (p.Ile851Leu)
n.3147A>C
c.2842A>C (p.Ile948Leu)
c.2908A>C (p.Ile970Leu)
c.2860A>C (p.Ile954Leu)
c.2725A>C (p.Ile909Leu)
c.2896-172A>C (n.2896-172A>C)
16g.28835951A>GCA395408790ATXN2Lc.2914A>G (p.Ile972Val)
c.889A>G (p.Ile297Val)
n.3288A>G
c.109A>G (p.Ile37Val)
c.2932A>G (p.Ile978Val)
c.1978A>G (n.1978A>G)
c.183A>G
c.892A>G (p.Ile298Val)
c.434A>G
c.2935A>G (p.Ile979Val)
c.2917A>G (p.Ile973Val)
c.2755A>G (p.Ile919Val)
c.2863A>G (p.Ile955Val)
c.2845A>G (p.Ile949Val)
c.2569A>G (p.Ile857Val)
n.3144A>G
c.2737A>G (p.Ile913Val)
c.2551A>G (p.Ile851Val)
n.3147A>G
c.2842A>G (p.Ile948Val)
c.2908A>G (p.Ile970Val)
c.2860A>G (p.Ile954Val)
c.2725A>G (p.Ile909Val)
c.2896-172A>G (n.2896-172A>G)
16g.28835951A>TCA395408792ATXN2Lc.2914A>T (p.Ile972Phe)
c.889A>T (p.Ile297Phe)
n.3288A>T
c.109A>T (p.Ile37Phe)
c.2932A>T (p.Ile978Phe)
c.1978A>T (n.1978A>T)
c.183A>T
c.892A>T (p.Ile298Phe)
c.434A>T
c.2935A>T (p.Ile979Phe)
c.2917A>T (p.Ile973Phe)
c.2755A>T (p.Ile919Phe)
c.2863A>T (p.Ile955Phe)
c.2845A>T (p.Ile949Phe)
c.2569A>T (p.Ile857Phe)
n.3144A>T
c.2737A>T (p.Ile913Phe)
c.2551A>T (p.Ile851Phe)
n.3147A>T
c.2842A>T (p.Ile948Phe)
c.2908A>T (p.Ile970Phe)
c.2860A>T (p.Ile954Phe)
c.2725A>T (p.Ile909Phe)
c.2896-172A>T (n.2896-172A>T)
16g.28835952T>ACA395408795ATXN2Lc.2915T>A (p.Ile972Asn)
c.890T>A (p.Ile297Asn)
n.3289T>A
c.110T>A (p.Ile37Asn)
c.2933T>A (p.Ile978Asn)
c.1979T>A (n.1979T>A)
c.184T>A
c.893T>A (p.Ile298Asn)
c.435T>A
c.2936T>A (p.Ile979Asn)
c.2918T>A (p.Ile973Asn)
c.2756T>A (p.Ile919Asn)
c.2864T>A (p.Ile955Asn)
c.2846T>A (p.Ile949Asn)
c.2570T>A (p.Ile857Asn)
n.3145T>A
c.2738T>A (p.Ile913Asn)
c.2552T>A (p.Ile851Asn)
n.3148T>A
c.2843T>A (p.Ile948Asn)
c.2909T>A (p.Ile970Asn)
c.2861T>A (p.Ile954Asn)
c.2726T>A (p.Ile909Asn)
c.2896-171T>A (n.2896-171T>A)
 gnomAD v4
16g.28835952T>CCA395408799ATXN2Lc.2915T>C (p.Ile972Thr)
c.890T>C (p.Ile297Thr)
n.3289T>C
c.110T>C (p.Ile37Thr)
c.2933T>C (p.Ile978Thr)
c.1979T>C (n.1979T>C)
c.184T>C
c.893T>C (p.Ile298Thr)
c.435T>C
c.2936T>C (p.Ile979Thr)
c.2918T>C (p.Ile973Thr)
c.2756T>C (p.Ile919Thr)
c.2864T>C (p.Ile955Thr)
c.2846T>C (p.Ile949Thr)
c.2570T>C (p.Ile857Thr)
n.3145T>C
c.2738T>C (p.Ile913Thr)
c.2552T>C (p.Ile851Thr)
n.3148T>C
c.2843T>C (p.Ile948Thr)
c.2909T>C (p.Ile970Thr)
c.2861T>C (p.Ile954Thr)
c.2726T>C (p.Ile909Thr)
c.2896-171T>C (n.2896-171T>C)
16g.28835952T>GCA395408797ATXN2Lc.2915T>G (p.Ile972Ser)
c.890T>G (p.Ile297Ser)
n.3289T>G
c.110T>G (p.Ile37Ser)
c.2933T>G (p.Ile978Ser)
c.1979T>G (n.1979T>G)
c.184T>G
c.893T>G (p.Ile298Ser)
c.435T>G
c.2936T>G (p.Ile979Ser)
c.2918T>G (p.Ile973Ser)
c.2756T>G (p.Ile919Ser)
c.2864T>G (p.Ile955Ser)
c.2846T>G (p.Ile949Ser)
c.2570T>G (p.Ile857Ser)
n.3145T>G
c.2738T>G (p.Ile913Ser)
c.2552T>G (p.Ile851Ser)
n.3148T>G
c.2843T>G (p.Ile948Ser)
c.2909T>G (p.Ile970Ser)
c.2861T>G (p.Ile954Ser)
c.2726T>G (p.Ile909Ser)
c.2896-171T>G (n.2896-171T>G)
16g.28835954_28835984dupCA2806421856ATXN2Lc.2917_2947dup (p.Pro983HisfsTer?)
c.892_922dup (p.Pro308HisfsTer?)
n.3291_3321dup
c.112_142dup (p.Pro48HisfsTer?)
c.2935_2965dup (p.Pro989HisfsTer?)
c.1981_2011dup (n.1981_2011dup)
c.186_216dup
c.895_925dup (p.Pro309HisfsTer?)
c.437_467dup
c.2938_2968dup (p.Pro990HisfsTer?)
c.2920_2950dup (p.Pro984HisfsTer?)
c.2758_2788dup (p.Pro930HisfsTer?)
c.2866_2896dup (p.Pro966HisfsTer?)
c.2848_2878dup (p.Pro960HisfsTer?)
c.2572_2602dup (p.Pro868HisfsTer?)
n.3147_3177dup
c.2740_2770dup (p.Pro924HisfsTer?)
c.2554_2584dup (p.Pro862HisfsTer?)
n.3150_3180dup
c.2845_2875dup (p.Pro959HisfsTer?)
c.2911_2941dup (p.Pro981HisfsTer?)
c.2863_2893dup (p.Pro965HisfsTer?)
c.2728_2758dup (p.Pro920HisfsTer?)
c.2896-169_2896-139dup (n.2896-169_2896-139dup)
16g.28835953C>ACA494868351ATXN2Lc.2916C>A (p.Ile972=)
c.891C>A (p.Ile297=)
n.3290C>A
c.111C>A (p.Ile37=)
c.2934C>A (p.Ile978=)
c.1980C>A (n.1980C>A)
c.185C>A
c.894C>A (p.Ile298=)
c.436C>A
c.2937C>A (p.Ile979=)
c.2919C>A (p.Ile973=)
c.2757C>A (p.Ile919=)
c.2865C>A (p.Ile955=)
c.2847C>A (p.Ile949=)
c.2571C>A (p.Ile857=)
n.3146C>A
c.2739C>A (p.Ile913=)
c.2553C>A (p.Ile851=)
n.3149C>A
c.2844C>A (p.Ile948=)
c.2910C>A (p.Ile970=)
c.2862C>A (p.Ile954=)
c.2727C>A (p.Ile909=)
c.2896-170C>A (n.2896-170C>A)
 gnomAD v4
16g.28835953C>GCA395408800ATXN2Lc.2916C>G (p.Ile972Met)
c.891C>G (p.Ile297Met)
n.3290C>G
c.111C>G (p.Ile37Met)
c.2934C>G (p.Ile978Met)
c.1980C>G (n.1980C>G)
c.185C>G
c.894C>G (p.Ile298Met)
c.436C>G
c.2937C>G (p.Ile979Met)
c.2919C>G (p.Ile973Met)
c.2757C>G (p.Ile919Met)
c.2865C>G (p.Ile955Met)
c.2847C>G (p.Ile949Met)
c.2571C>G (p.Ile857Met)
n.3146C>G
c.2739C>G (p.Ile913Met)
c.2553C>G (p.Ile851Met)
n.3149C>G
c.2844C>G (p.Ile948Met)
c.2910C>G (p.Ile970Met)
c.2862C>G (p.Ile954Met)
c.2727C>G (p.Ile909Met)
c.2896-170C>G (n.2896-170C>G)
16g.28835953C>TCA494868355ATXN2Lc.2916C>T (p.Ile972=)
c.891C>T (p.Ile297=)
n.3290C>T
c.111C>T (p.Ile37=)
c.2934C>T (p.Ile978=)
c.1980C>T (n.1980C>T)
c.185C>T
c.894C>T (p.Ile298=)
c.436C>T
c.2937C>T (p.Ile979=)
c.2919C>T (p.Ile973=)
c.2757C>T (p.Ile919=)
c.2865C>T (p.Ile955=)
c.2847C>T (p.Ile949=)
c.2571C>T (p.Ile857=)
n.3146C>T
c.2739C>T (p.Ile913=)
c.2553C>T (p.Ile851=)
n.3149C>T
c.2844C>T (p.Ile948=)
c.2910C>T (p.Ile970=)
c.2862C>T (p.Ile954=)
c.2727C>T (p.Ile909=)
c.2896-170C>T (n.2896-170C>T)
16g.28835954A=CA2215806748ATXN2Lc.2917A= (p.Thr973=)
c.892A= (p.Thr298=)
n.3291A=
c.112A= (p.Thr38=)
c.2935A= (p.Thr979=)
c.1981A= (n.1981A=)
c.186A=
c.895A= (p.Thr299=)
c.437A=
c.2938A= (p.Thr980=)
c.2920A= (p.Thr974=)
c.2758A= (p.Thr920=)
c.2866A= (p.Thr956=)
c.2848A= (p.Thr950=)
c.2572A= (p.Thr858=)
n.3147A=
c.2740A= (p.Thr914=)
c.2554A= (p.Thr852=)
n.3150A=
c.2845A= (p.Thr949=)
c.2911A= (p.Thr971=)
c.2863A= (p.Thr955=)
c.2728A= (p.Thr910=)
c.2896-169A= (n.2896-169A=)
16g.28835954A>CCA395408803ATXN2Lc.2917A>C (p.Thr973Pro)
c.892A>C (p.Thr298Pro)
n.3291A>C
c.112A>C (p.Thr38Pro)
c.2935A>C (p.Thr979Pro)
c.1981A>C (n.1981A>C)
c.186A>C
c.895A>C (p.Thr299Pro)
c.437A>C
c.2938A>C (p.Thr980Pro)
c.2920A>C (p.Thr974Pro)
c.2758A>C (p.Thr920Pro)
c.2866A>C (p.Thr956Pro)
c.2848A>C (p.Thr950Pro)
c.2572A>C (p.Thr858Pro)
n.3147A>C
c.2740A>C (p.Thr914Pro)
c.2554A>C (p.Thr852Pro)
n.3150A>C
c.2845A>C (p.Thr949Pro)
c.2911A>C (p.Thr971Pro)
c.2863A>C (p.Thr955Pro)
c.2728A>C (p.Thr910Pro)
c.2896-169A>C (n.2896-169A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835954A>GCA395408805ATXN2Lc.2917A>G (p.Thr973Ala)
c.892A>G (p.Thr298Ala)
n.3291A>G
c.112A>G (p.Thr38Ala)
c.2935A>G (p.Thr979Ala)
c.1981A>G (n.1981A>G)
c.186A>G
c.895A>G (p.Thr299Ala)
c.437A>G
c.2938A>G (p.Thr980Ala)
c.2920A>G (p.Thr974Ala)
c.2758A>G (p.Thr920Ala)
c.2866A>G (p.Thr956Ala)
c.2848A>G (p.Thr950Ala)
c.2572A>G (p.Thr858Ala)
n.3147A>G
c.2740A>G (p.Thr914Ala)
c.2554A>G (p.Thr852Ala)
n.3150A>G
c.2845A>G (p.Thr949Ala)
c.2911A>G (p.Thr971Ala)
c.2863A>G (p.Thr955Ala)
c.2728A>G (p.Thr910Ala)
c.2896-169A>G (n.2896-169A>G)
16g.28835954A>TCA395408806ATXN2Lc.2917A>T (p.Thr973Ser)
c.892A>T (p.Thr298Ser)
n.3291A>T
c.112A>T (p.Thr38Ser)
c.2935A>T (p.Thr979Ser)
c.1981A>T (n.1981A>T)
c.186A>T
c.895A>T (p.Thr299Ser)
c.437A>T
c.2938A>T (p.Thr980Ser)
c.2920A>T (p.Thr974Ser)
c.2758A>T (p.Thr920Ser)
c.2866A>T (p.Thr956Ser)
c.2848A>T (p.Thr950Ser)
c.2572A>T (p.Thr858Ser)
n.3147A>T
c.2740A>T (p.Thr914Ser)
c.2554A>T (p.Thr852Ser)
n.3150A>T
c.2845A>T (p.Thr949Ser)
c.2911A>T (p.Thr971Ser)
c.2863A>T (p.Thr955Ser)
c.2728A>T (p.Thr910Ser)
c.2896-169A>T (n.2896-169A>T)
 COSMIC COSMIC COSMIC COSMIC
16g.28835955C>ACA395408808ATXN2Lc.2918C>A (p.Thr973Lys)
c.893C>A (p.Thr298Lys)
n.3292C>A
c.113C>A (p.Thr38Lys)
c.2936C>A (p.Thr979Lys)
c.1982C>A (n.1982C>A)
c.187C>A
c.896C>A (p.Thr299Lys)
c.438C>A
c.2939C>A (p.Thr980Lys)
c.2921C>A (p.Thr974Lys)
c.2759C>A (p.Thr920Lys)
c.2867C>A (p.Thr956Lys)
c.2849C>A (p.Thr950Lys)
c.2573C>A (p.Thr858Lys)
n.3148C>A
c.2741C>A (p.Thr914Lys)
c.2555C>A (p.Thr852Lys)
n.3151C>A
c.2846C>A (p.Thr949Lys)
c.2912C>A (p.Thr971Lys)
c.2864C>A (p.Thr955Lys)
c.2729C>A (p.Thr910Lys)
c.2896-168C>A (n.2896-168C>A)
 gnomAD v4
16g.28835955C>GCA395408809ATXN2Lc.2918C>G (p.Thr973Arg)
c.893C>G (p.Thr298Arg)
n.3292C>G
c.113C>G (p.Thr38Arg)
c.2936C>G (p.Thr979Arg)
c.1982C>G (n.1982C>G)
c.187C>G
c.896C>G (p.Thr299Arg)
c.438C>G
c.2939C>G (p.Thr980Arg)
c.2921C>G (p.Thr974Arg)
c.2759C>G (p.Thr920Arg)
c.2867C>G (p.Thr956Arg)
c.2849C>G (p.Thr950Arg)
c.2573C>G (p.Thr858Arg)
n.3148C>G
c.2741C>G (p.Thr914Arg)
c.2555C>G (p.Thr852Arg)
n.3151C>G
c.2846C>G (p.Thr949Arg)
c.2912C>G (p.Thr971Arg)
c.2864C>G (p.Thr955Arg)
c.2729C>G (p.Thr910Arg)
c.2896-168C>G (n.2896-168C>G)
 gnomAD v4
16g.28835955C>TCA395408811ATXN2Lc.2918C>T (p.Thr973Ile)
c.893C>T (p.Thr298Ile)
n.3292C>T
c.113C>T (p.Thr38Ile)
c.2936C>T (p.Thr979Ile)
c.1982C>T (n.1982C>T)
c.187C>T
c.896C>T (p.Thr299Ile)
c.438C>T
c.2939C>T (p.Thr980Ile)
c.2921C>T (p.Thr974Ile)
c.2759C>T (p.Thr920Ile)
c.2867C>T (p.Thr956Ile)
c.2849C>T (p.Thr950Ile)
c.2573C>T (p.Thr858Ile)
n.3148C>T
c.2741C>T (p.Thr914Ile)
c.2555C>T (p.Thr852Ile)
n.3151C>T
c.2846C>T (p.Thr949Ile)
c.2912C>T (p.Thr971Ile)
c.2864C>T (p.Thr955Ile)
c.2729C>T (p.Thr910Ile)
c.2896-168C>T (n.2896-168C>T)
 gnomAD v4
16g.28835959_28835961delCA2575959532ATXN2Lc.2922_2924del (p.Ala975del)
c.897_899del (p.Ala300del)
n.3296_3298del
c.117_119del (p.Ala40del)
c.2940_2942del (p.Ala981del)
c.1986_1988del (n.1986_1988del)
c.191_193del
c.900_902del (p.Ala301del)
c.442_444del
c.2943_2945del (p.Ala982del)
c.2925_2927del (p.Ala976del)
c.2763_2765del (p.Ala922del)
c.2871_2873del (p.Ala958del)
c.2853_2855del (p.Ala952del)
c.2577_2579del (p.Ala860del)
n.3152_3154del
c.2745_2747del (p.Ala916del)
c.2559_2561del (p.Ala854del)
n.3155_3157del
c.2850_2852del (p.Ala951del)
c.2916_2918del (p.Ala973del)
c.2868_2870del (p.Ala957del)
c.2733_2735del (p.Ala912del)
c.2896-164_2896-162del (n.2896-164_2896-162del)
 gnomAD v4
16g.28835956A>CCA494868370ATXN2Lc.2919A>C (p.Thr973=)
c.894A>C (p.Thr298=)
n.3293A>C
c.114A>C (p.Thr38=)
c.2937A>C (p.Thr979=)
c.1983A>C (n.1983A>C)
c.188A>C
c.897A>C (p.Thr299=)
c.439A>C
c.2940A>C (p.Thr980=)
c.2922A>C (p.Thr974=)
c.2760A>C (p.Thr920=)
c.2868A>C (p.Thr956=)
c.2850A>C (p.Thr950=)
c.2574A>C (p.Thr858=)
n.3149A>C
c.2742A>C (p.Thr914=)
c.2556A>C (p.Thr852=)
n.3152A>C
c.2847A>C (p.Thr949=)
c.2913A>C (p.Thr971=)
c.2865A>C (p.Thr955=)
c.2730A>C (p.Thr910=)
c.2896-167A>C (n.2896-167A>C)
16g.28835956A>GCA494868368ATXN2Lc.2919A>G (p.Thr973=)
c.894A>G (p.Thr298=)
n.3293A>G
c.114A>G (p.Thr38=)
c.2937A>G (p.Thr979=)
c.1983A>G (n.1983A>G)
c.188A>G
c.897A>G (p.Thr299=)
c.439A>G
c.2940A>G (p.Thr980=)
c.2922A>G (p.Thr974=)
c.2760A>G (p.Thr920=)
c.2868A>G (p.Thr956=)
c.2850A>G (p.Thr950=)
c.2574A>G (p.Thr858=)
n.3149A>G
c.2742A>G (p.Thr914=)
c.2556A>G (p.Thr852=)
n.3152A>G
c.2847A>G (p.Thr949=)
c.2913A>G (p.Thr971=)
c.2865A>G (p.Thr955=)
c.2730A>G (p.Thr910=)
c.2896-167A>G (n.2896-167A>G)
 gnomAD v4
16g.28835956A>TCA494868369ATXN2Lc.2919A>T (p.Thr973=)
c.894A>T (p.Thr298=)
n.3293A>T
c.114A>T (p.Thr38=)
c.2937A>T (p.Thr979=)
c.1983A>T (n.1983A>T)
c.188A>T
c.897A>T (p.Thr299=)
c.439A>T
c.2940A>T (p.Thr980=)
c.2922A>T (p.Thr974=)
c.2760A>T (p.Thr920=)
c.2868A>T (p.Thr956=)
c.2850A>T (p.Thr950=)
c.2574A>T (p.Thr858=)
n.3149A>T
c.2742A>T (p.Thr914=)
c.2556A>T (p.Thr852=)
n.3152A>T
c.2847A>T (p.Thr949=)
c.2913A>T (p.Thr971=)
c.2865A>T (p.Thr955=)
c.2730A>T (p.Thr910=)
c.2896-167A>T (n.2896-167A>T)
16g.28835957G>ACA7985140ATXN2Lc.2920G>A (p.Ala974Thr)
c.895G>A (p.Ala299Thr)
n.3294G>A
c.115G>A (p.Ala39Thr)
c.2938G>A (p.Ala980Thr)
c.1984G>A (n.1984G>A)
c.189G>A
c.898G>A (p.Ala300Thr)
c.440G>A
c.2941G>A (p.Ala981Thr)
c.2923G>A (p.Ala975Thr)
c.2761G>A (p.Ala921Thr)
c.2869G>A (p.Ala957Thr)
c.2851G>A (p.Ala951Thr)
c.2575G>A (p.Ala859Thr)
n.3150G>A
c.2743G>A (p.Ala915Thr)
c.2557G>A (p.Ala853Thr)
n.3153G>A
c.2848G>A (p.Ala950Thr)
c.2914G>A (p.Ala972Thr)
c.2866G>A (p.Ala956Thr)
c.2731G>A (p.Ala911Thr)
c.2896-166G>A (n.2896-166G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835957G>CCA395408818ATXN2Lc.2920G>C (p.Ala974Pro)
c.895G>C (p.Ala299Pro)
n.3294G>C
c.115G>C (p.Ala39Pro)
c.2938G>C (p.Ala980Pro)
c.1984G>C (n.1984G>C)
c.189G>C
c.898G>C (p.Ala300Pro)
c.440G>C
c.2941G>C (p.Ala981Pro)
c.2923G>C (p.Ala975Pro)
c.2761G>C (p.Ala921Pro)
c.2869G>C (p.Ala957Pro)
c.2851G>C (p.Ala951Pro)
c.2575G>C (p.Ala859Pro)
n.3150G>C
c.2743G>C (p.Ala915Pro)
c.2557G>C (p.Ala853Pro)
n.3153G>C
c.2848G>C (p.Ala950Pro)
c.2914G>C (p.Ala972Pro)
c.2866G>C (p.Ala956Pro)
c.2731G>C (p.Ala911Pro)
c.2896-166G>C (n.2896-166G>C)
16g.28835957G=CA2215806750ATXN2Lc.2920G= (p.Ala974=)
c.895G= (p.Ala299=)
n.3294G=
c.115G= (p.Ala39=)
c.2938G= (p.Ala980=)
c.1984G= (n.1984G=)
c.189G=
c.898G= (p.Ala300=)
c.440G=
c.2941G= (p.Ala981=)
c.2923G= (p.Ala975=)
c.2761G= (p.Ala921=)
c.2869G= (p.Ala957=)
c.2851G= (p.Ala951=)
c.2575G= (p.Ala859=)
n.3150G=
c.2743G= (p.Ala915=)
c.2557G= (p.Ala853=)
n.3153G=
c.2848G= (p.Ala950=)
c.2914G= (p.Ala972=)
c.2866G= (p.Ala956=)
c.2731G= (p.Ala911=)
c.2896-166G= (n.2896-166G=)
16g.28835957G>TCA395408820ATXN2Lc.2920G>T (p.Ala974Ser)
c.895G>T (p.Ala299Ser)
n.3294G>T
c.115G>T (p.Ala39Ser)
c.2938G>T (p.Ala980Ser)
c.1984G>T (n.1984G>T)
c.189G>T
c.898G>T (p.Ala300Ser)
c.440G>T
c.2941G>T (p.Ala981Ser)
c.2923G>T (p.Ala975Ser)
c.2761G>T (p.Ala921Ser)
c.2869G>T (p.Ala957Ser)
c.2851G>T (p.Ala951Ser)
c.2575G>T (p.Ala859Ser)
n.3150G>T
c.2743G>T (p.Ala915Ser)
c.2557G>T (p.Ala853Ser)
n.3153G>T
c.2848G>T (p.Ala950Ser)
c.2914G>T (p.Ala972Ser)
c.2866G>T (p.Ala956Ser)
c.2731G>T (p.Ala911Ser)
c.2896-166G>T (n.2896-166G>T)
16g.28835958C>ACA395408822ATXN2Lc.2921C>A (p.Ala974Glu)
c.896C>A (p.Ala299Glu)
n.3295C>A
c.116C>A (p.Ala39Glu)
c.2939C>A (p.Ala980Glu)
c.1985C>A (n.1985C>A)
c.190C>A
c.899C>A (p.Ala300Glu)
c.441C>A
c.2942C>A (p.Ala981Glu)
c.2924C>A (p.Ala975Glu)
c.2762C>A (p.Ala921Glu)
c.2870C>A (p.Ala957Glu)
c.2852C>A (p.Ala951Glu)
c.2576C>A (p.Ala859Glu)
n.3151C>A
c.2744C>A (p.Ala915Glu)
c.2558C>A (p.Ala853Glu)
n.3154C>A
c.2849C>A (p.Ala950Glu)
c.2915C>A (p.Ala972Glu)
c.2867C>A (p.Ala956Glu)
c.2732C>A (p.Ala911Glu)
c.2896-165C>A (n.2896-165C>A)
 gnomAD v4
16g.28835958C>GCA395408824ATXN2Lc.2921C>G (p.Ala974Gly)
c.896C>G (p.Ala299Gly)
n.3295C>G
c.116C>G (p.Ala39Gly)
c.2939C>G (p.Ala980Gly)
c.1985C>G (n.1985C>G)
c.190C>G
c.899C>G (p.Ala300Gly)
c.441C>G
c.2942C>G (p.Ala981Gly)
c.2924C>G (p.Ala975Gly)
c.2762C>G (p.Ala921Gly)
c.2870C>G (p.Ala957Gly)
c.2852C>G (p.Ala951Gly)
c.2576C>G (p.Ala859Gly)
n.3151C>G
c.2744C>G (p.Ala915Gly)
c.2558C>G (p.Ala853Gly)
n.3154C>G
c.2849C>G (p.Ala950Gly)
c.2915C>G (p.Ala972Gly)
c.2867C>G (p.Ala956Gly)
c.2732C>G (p.Ala911Gly)
c.2896-165C>G (n.2896-165C>G)
16g.28835958C>TCA395408826ATXN2Lc.2921C>T (p.Ala974Val)
c.896C>T (p.Ala299Val)
n.3295C>T
c.116C>T (p.Ala39Val)
c.2939C>T (p.Ala980Val)
c.1985C>T (n.1985C>T)
c.190C>T
c.899C>T (p.Ala300Val)
c.441C>T
c.2942C>T (p.Ala981Val)
c.2924C>T (p.Ala975Val)
c.2762C>T (p.Ala921Val)
c.2870C>T (p.Ala957Val)
c.2852C>T (p.Ala951Val)
c.2576C>T (p.Ala859Val)
n.3151C>T
c.2744C>T (p.Ala915Val)
c.2558C>T (p.Ala853Val)
n.3154C>T
c.2849C>T (p.Ala950Val)
c.2915C>T (p.Ala972Val)
c.2867C>T (p.Ala956Val)
c.2732C>T (p.Ala911Val)
c.2896-165C>T (n.2896-165C>T)
 gnomAD v4
16g.28835959A>CCA494868402ATXN2Lc.2922A>C (p.Ala974=)
c.897A>C (p.Ala299=)
n.3296A>C
c.117A>C (p.Ala39=)
c.2940A>C (p.Ala980=)
c.1986A>C (n.1986A>C)
c.191A>C
c.900A>C (p.Ala300=)
c.442A>C
c.2943A>C (p.Ala981=)
c.2925A>C (p.Ala975=)
c.2763A>C (p.Ala921=)
c.2871A>C (p.Ala957=)
c.2853A>C (p.Ala951=)
c.2577A>C (p.Ala859=)
n.3152A>C
c.2745A>C (p.Ala915=)
c.2559A>C (p.Ala853=)
n.3155A>C
c.2850A>C (p.Ala950=)
c.2916A>C (p.Ala972=)
c.2868A>C (p.Ala956=)
c.2733A>C (p.Ala911=)
c.2896-164A>C (n.2896-164A>C)
16g.28835959A>GCA494868406ATXN2Lc.2922A>G (p.Ala974=)
c.897A>G (p.Ala299=)
n.3296A>G
c.117A>G (p.Ala39=)
c.2940A>G (p.Ala980=)
c.1986A>G (n.1986A>G)
c.191A>G
c.900A>G (p.Ala300=)
c.442A>G
c.2943A>G (p.Ala981=)
c.2925A>G (p.Ala975=)
c.2763A>G (p.Ala921=)
c.2871A>G (p.Ala957=)
c.2853A>G (p.Ala951=)
c.2577A>G (p.Ala859=)
n.3152A>G
c.2745A>G (p.Ala915=)
c.2559A>G (p.Ala853=)
n.3155A>G
c.2850A>G (p.Ala950=)
c.2916A>G (p.Ala972=)
c.2868A>G (p.Ala956=)
c.2733A>G (p.Ala911=)
c.2896-164A>G (n.2896-164A>G)
 gnomAD v4
16g.28835959A>TCA494868412ATXN2Lc.2922A>T (p.Ala974=)
c.897A>T (p.Ala299=)
n.3296A>T
c.117A>T (p.Ala39=)
c.2940A>T (p.Ala980=)
c.1986A>T (n.1986A>T)
c.191A>T
c.900A>T (p.Ala300=)
c.442A>T
c.2943A>T (p.Ala981=)
c.2925A>T (p.Ala975=)
c.2763A>T (p.Ala921=)
c.2871A>T (p.Ala957=)
c.2853A>T (p.Ala951=)
c.2577A>T (p.Ala859=)
n.3152A>T
c.2745A>T (p.Ala915=)
c.2559A>T (p.Ala853=)
n.3155A>T
c.2850A>T (p.Ala950=)
c.2916A>T (p.Ala972=)
c.2868A>T (p.Ala956=)
c.2733A>T (p.Ala911=)
c.2896-164A>T (n.2896-164A>T)
16g.28835960G>ACA395408832ATXN2Lc.2923G>A (p.Ala975Thr)
c.898G>A (p.Ala300Thr)
n.3297G>A
c.118G>A (p.Ala40Thr)
c.2941G>A (p.Ala981Thr)
c.1987G>A (n.1987G>A)
c.192G>A
c.901G>A (p.Ala301Thr)
c.443G>A
c.2944G>A (p.Ala982Thr)
c.2926G>A (p.Ala976Thr)
c.2764G>A (p.Ala922Thr)
c.2872G>A (p.Ala958Thr)
c.2854G>A (p.Ala952Thr)
c.2578G>A (p.Ala860Thr)
n.3153G>A
c.2746G>A (p.Ala916Thr)
c.2560G>A (p.Ala854Thr)
n.3156G>A
c.2851G>A (p.Ala951Thr)
c.2917G>A (p.Ala973Thr)
c.2869G>A (p.Ala957Thr)
c.2734G>A (p.Ala912Thr)
c.2896-163G>A (n.2896-163G>A)
 gnomAD v4
16g.28835960G>CCA395408828ATXN2Lc.2923G>C (p.Ala975Pro)
c.898G>C (p.Ala300Pro)
n.3297G>C
c.118G>C (p.Ala40Pro)
c.2941G>C (p.Ala981Pro)
c.1987G>C (n.1987G>C)
c.192G>C
c.901G>C (p.Ala301Pro)
c.443G>C
c.2944G>C (p.Ala982Pro)
c.2926G>C (p.Ala976Pro)
c.2764G>C (p.Ala922Pro)
c.2872G>C (p.Ala958Pro)
c.2854G>C (p.Ala952Pro)
c.2578G>C (p.Ala860Pro)
n.3153G>C
c.2746G>C (p.Ala916Pro)
c.2560G>C (p.Ala854Pro)
n.3156G>C
c.2851G>C (p.Ala951Pro)
c.2917G>C (p.Ala973Pro)
c.2869G>C (p.Ala957Pro)
c.2734G>C (p.Ala912Pro)
c.2896-163G>C (n.2896-163G>C)
16g.28835960G>TCA395408830ATXN2Lc.2923G>T (p.Ala975Ser)
c.898G>T (p.Ala300Ser)
n.3297G>T
c.118G>T (p.Ala40Ser)
c.2941G>T (p.Ala981Ser)
c.1987G>T (n.1987G>T)
c.192G>T
c.901G>T (p.Ala301Ser)
c.443G>T
c.2944G>T (p.Ala982Ser)
c.2926G>T (p.Ala976Ser)
c.2764G>T (p.Ala922Ser)
c.2872G>T (p.Ala958Ser)
c.2854G>T (p.Ala952Ser)
c.2578G>T (p.Ala860Ser)
n.3153G>T
c.2746G>T (p.Ala916Ser)
c.2560G>T (p.Ala854Ser)
n.3156G>T
c.2851G>T (p.Ala951Ser)
c.2917G>T (p.Ala973Ser)
c.2869G>T (p.Ala957Ser)
c.2734G>T (p.Ala912Ser)
c.2896-163G>T (n.2896-163G>T)
 gnomAD v4
16g.28835961C>ACA395408833ATXN2Lc.2924C>A (p.Ala975Asp)
c.899C>A (p.Ala300Asp)
n.3298C>A
c.119C>A (p.Ala40Asp)
c.2942C>A (p.Ala981Asp)
c.1988C>A (n.1988C>A)
c.193C>A
c.902C>A (p.Ala301Asp)
c.444C>A
c.2945C>A (p.Ala982Asp)
c.2927C>A (p.Ala976Asp)
c.2765C>A (p.Ala922Asp)
c.2873C>A (p.Ala958Asp)
c.2855C>A (p.Ala952Asp)
c.2579C>A (p.Ala860Asp)
n.3154C>A
c.2747C>A (p.Ala916Asp)
c.2561C>A (p.Ala854Asp)
n.3157C>A
c.2852C>A (p.Ala951Asp)
c.2918C>A (p.Ala973Asp)
c.2870C>A (p.Ala957Asp)
c.2735C>A (p.Ala912Asp)
c.2896-162C>A (n.2896-162C>A)
 gnomAD v4
16g.28835961C>GCA395408836ATXN2Lc.2924C>G (p.Ala975Gly)
c.899C>G (p.Ala300Gly)
n.3298C>G
c.119C>G (p.Ala40Gly)
c.2942C>G (p.Ala981Gly)
c.1988C>G (n.1988C>G)
c.193C>G
c.902C>G (p.Ala301Gly)
c.444C>G
c.2945C>G (p.Ala982Gly)
c.2927C>G (p.Ala976Gly)
c.2765C>G (p.Ala922Gly)
c.2873C>G (p.Ala958Gly)
c.2855C>G (p.Ala952Gly)
c.2579C>G (p.Ala860Gly)
n.3154C>G
c.2747C>G (p.Ala916Gly)
c.2561C>G (p.Ala854Gly)
n.3157C>G
c.2852C>G (p.Ala951Gly)
c.2918C>G (p.Ala973Gly)
c.2870C>G (p.Ala957Gly)
c.2735C>G (p.Ala912Gly)
c.2896-162C>G (n.2896-162C>G)
16g.28835961C>TCA395408838ATXN2Lc.2924C>T (p.Ala975Val)
c.899C>T (p.Ala300Val)
n.3298C>T
c.119C>T (p.Ala40Val)
c.2942C>T (p.Ala981Val)
c.1988C>T (n.1988C>T)
c.193C>T
c.902C>T (p.Ala301Val)
c.444C>T
c.2945C>T (p.Ala982Val)
c.2927C>T (p.Ala976Val)
c.2765C>T (p.Ala922Val)
c.2873C>T (p.Ala958Val)
c.2855C>T (p.Ala952Val)
c.2579C>T (p.Ala860Val)
n.3154C>T
c.2747C>T (p.Ala916Val)
c.2561C>T (p.Ala854Val)
n.3157C>T
c.2852C>T (p.Ala951Val)
c.2918C>T (p.Ala973Val)
c.2870C>T (p.Ala957Val)
c.2735C>T (p.Ala912Val)
c.2896-162C>T (n.2896-162C>T)
 gnomAD v4
16g.28835964delCA494868419ATXN2Lc.2927del (p.Pro976ArgfsTer13)
c.902del (p.Pro301ArgfsTer13)
n.3301del
c.122del (p.Pro41ArgfsTer13)
c.2945del (p.Pro982ArgfsTer13)
c.1991del (n.1991del)
c.196del
c.905del (p.Pro302ArgfsTer13)
c.447del
c.2948del (p.Pro983ArgfsTer13)
c.2930del (p.Pro977ArgfsTer13)
c.2768del (p.Pro923ArgfsTer13)
c.2876del (p.Pro959ArgfsTer13)
c.2858del (p.Pro953ArgfsTer13)
c.2582del (p.Pro861ArgfsTer13)
n.3157del
c.2750del (p.Pro917ArgfsTer13)
c.2564del (p.Pro855ArgfsTer13)
n.3160del
c.2855del (p.Pro952ArgfsTer13)
c.2921del (p.Pro974ArgfsTer13)
c.2873del (p.Pro958ArgfsTer13)
c.2738del (p.Pro913ArgfsTer13)
c.2896-159del (n.2896-159del)
16g.28835961_28835988delinsCCCCGCCCCCTCACCCTGGGGCTCCCCACA2215806751ATXN2Lc.2924_2951delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala975=)
c.899_926delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala300=)
n.3298_3325delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.119_146delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala40=)
c.2942_2969delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala981=)
c.1988_2015delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (n.1988_2015delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA)
c.193_220delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.902_929delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala301=)
c.444_471delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.2945_2972delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala982=)
c.2927_2954delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala976=)
c.2765_2792delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala922=)
c.2873_2900delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala958=)
c.2855_2882delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala952=)
c.2579_2606delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala860=)
n.3154_3181delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.2747_2774delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala916=)
c.2561_2588delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala854=)
n.3157_3184delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.2852_2879delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala951=)
c.2918_2945delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala973=)
c.2870_2897delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala957=)
c.2735_2762delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala912=)
c.2896-162_2896-135delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (n.2896-162_2896-135delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA)
16g.28835962C>ACA494868425ATXN2Lc.2925C>A (p.Ala975=)
c.900C>A (p.Ala300=)
n.3299C>A
c.120C>A (p.Ala40=)
c.2943C>A (p.Ala981=)
c.1989C>A (n.1989C>A)
c.194C>A
c.903C>A (p.Ala301=)
c.445C>A
c.2946C>A (p.Ala982=)
c.2928C>A (p.Ala976=)
c.2766C>A (p.Ala922=)
c.2874C>A (p.Ala958=)
c.2856C>A (p.Ala952=)
c.2580C>A (p.Ala860=)
n.3155C>A
c.2748C>A (p.Ala916=)
c.2562C>A (p.Ala854=)
n.3158C>A
c.2853C>A (p.Ala951=)
c.2919C>A (p.Ala973=)
c.2871C>A (p.Ala957=)
c.2736C>A (p.Ala912=)
c.2896-161C>A (n.2896-161C>A)
 gnomAD v4
16g.28835962C=CA2215806754ATXN2Lc.2925C= (p.Ala975=)
c.900C= (p.Ala300=)
n.3299C=
c.120C= (p.Ala40=)
c.2943C= (p.Ala981=)
c.1989C= (n.1989C=)
c.194C=
c.903C= (p.Ala301=)
c.445C=
c.2946C= (p.Ala982=)
c.2928C= (p.Ala976=)
c.2766C= (p.Ala922=)
c.2874C= (p.Ala958=)
c.2856C= (p.Ala952=)
c.2580C= (p.Ala860=)
n.3155C=
c.2748C= (p.Ala916=)
c.2562C= (p.Ala854=)
n.3158C=
c.2853C= (p.Ala951=)
c.2919C= (p.Ala973=)
c.2871C= (p.Ala957=)
c.2736C= (p.Ala912=)
c.2896-161C= (n.2896-161C=)
16g.28835962C>GCA494868435ATXN2Lc.2925C>G (p.Ala975=)
c.900C>G (p.Ala300=)
n.3299C>G
c.120C>G (p.Ala40=)
c.2943C>G (p.Ala981=)
c.1989C>G (n.1989C>G)
c.194C>G
c.903C>G (p.Ala301=)
c.445C>G
c.2946C>G (p.Ala982=)
c.2928C>G (p.Ala976=)
c.2766C>G (p.Ala922=)
c.2874C>G (p.Ala958=)
c.2856C>G (p.Ala952=)
c.2580C>G (p.Ala860=)
n.3155C>G
c.2748C>G (p.Ala916=)
c.2562C>G (p.Ala854=)
n.3158C>G
c.2853C>G (p.Ala951=)
c.2919C>G (p.Ala973=)
c.2871C>G (p.Ala957=)
c.2736C>G (p.Ala912=)
c.2896-161C>G (n.2896-161C>G)
16g.28835962C>TCA494868437ATXN2Lc.2925C>T (p.Ala975=)
c.900C>T (p.Ala300=)
n.3299C>T
c.120C>T (p.Ala40=)
c.2943C>T (p.Ala981=)
c.1989C>T (n.1989C>T)
c.194C>T
c.903C>T (p.Ala301=)
c.445C>T
c.2946C>T (p.Ala982=)
c.2928C>T (p.Ala976=)
c.2766C>T (p.Ala922=)
c.2874C>T (p.Ala958=)
c.2856C>T (p.Ala952=)
c.2580C>T (p.Ala860=)
n.3155C>T
c.2748C>T (p.Ala916=)
c.2562C>T (p.Ala854=)
n.3158C>T
c.2853C>T (p.Ala951=)
c.2919C>T (p.Ala973=)
c.2871C>T (p.Ala957=)
c.2736C>T (p.Ala912=)
c.2896-161C>T (n.2896-161C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.28835970_28835996delCA622161855ATXN2Lc.2933_2959del (p.Pro978_Pro986del)
c.908_934del (p.Pro303_Pro311del)
n.3307_3333del
c.128_154del (p.Pro43_Pro51del)
c.2951_2977del (p.Pro984_Pro992del)
c.1997_2023del (n.1997_2023del)
c.202_228del
c.911_937del (p.Pro304_Pro312del)
c.453_479del
c.2954_2980del (p.Pro985_Pro993del)
c.2936_2962del (p.Pro979_Pro987del)
c.2774_2800del (p.Pro925_Pro933del)
c.2882_2908del (p.Pro961_Pro969del)
c.2864_2890del (p.Pro955_Pro963del)
c.2588_2614del (p.Pro863_Pro871del)
n.3163_3189del
c.2756_2782del (p.Pro919_Pro927del)
c.2570_2596del (p.Pro857_Pro865del)
n.3166_3192del
c.2861_2887del (p.Pro954_Pro962del)
c.2927_2953del (p.Pro976_Pro984del)
c.2879_2905del (p.Pro960_Pro968del)
c.2744_2770del (p.Pro915_Pro923del)
c.2896-153_2896-127del (n.2896-153_2896-127del)
 dbSNP gnomAD v2 gnomAD v4
16g.28835963C>ACA7985141ATXN2Lc.2926C>A (p.Pro976Thr)
c.901C>A (p.Pro301Thr)
n.3300C>A
c.121C>A (p.Pro41Thr)
c.2944C>A (p.Pro982Thr)
c.1990C>A (n.1990C>A)
c.195C>A
c.904C>A (p.Pro302Thr)
c.446C>A
c.2947C>A (p.Pro983Thr)
c.2929C>A (p.Pro977Thr)
c.2767C>A (p.Pro923Thr)
c.2875C>A (p.Pro959Thr)
c.2857C>A (p.Pro953Thr)
c.2581C>A (p.Pro861Thr)
n.3156C>A
c.2749C>A (p.Pro917Thr)
c.2563C>A (p.Pro855Thr)
n.3159C>A
c.2854C>A (p.Pro952Thr)
c.2920C>A (p.Pro974Thr)
c.2872C>A (p.Pro958Thr)
c.2737C>A (p.Pro913Thr)
c.2896-160C>A (n.2896-160C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835963C=CA2215806757ATXN2Lc.2926C= (p.Pro976=)
c.901C= (p.Pro301=)
n.3300C=
c.121C= (p.Pro41=)
c.2944C= (p.Pro982=)
c.1990C= (n.1990C=)
c.195C=
c.904C= (p.Pro302=)
c.446C=
c.2947C= (p.Pro983=)
c.2929C= (p.Pro977=)
c.2767C= (p.Pro923=)
c.2875C= (p.Pro959=)
c.2857C= (p.Pro953=)
c.2581C= (p.Pro861=)
n.3156C=
c.2749C= (p.Pro917=)
c.2563C= (p.Pro855=)
n.3159C=
c.2854C= (p.Pro952=)
c.2920C= (p.Pro974=)
c.2872C= (p.Pro958=)
c.2737C= (p.Pro913=)
c.2896-160C= (n.2896-160C=)
16g.28835963C>GCA395408840ATXN2Lc.2926C>G (p.Pro976Ala)
c.901C>G (p.Pro301Ala)
n.3300C>G
c.121C>G (p.Pro41Ala)
c.2944C>G (p.Pro982Ala)
c.1990C>G (n.1990C>G)
c.195C>G
c.904C>G (p.Pro302Ala)
c.446C>G
c.2947C>G (p.Pro983Ala)
c.2929C>G (p.Pro977Ala)
c.2767C>G (p.Pro923Ala)
c.2875C>G (p.Pro959Ala)
c.2857C>G (p.Pro953Ala)
c.2581C>G (p.Pro861Ala)
n.3156C>G
c.2749C>G (p.Pro917Ala)
c.2563C>G (p.Pro855Ala)
n.3159C>G
c.2854C>G (p.Pro952Ala)
c.2920C>G (p.Pro974Ala)
c.2872C>G (p.Pro958Ala)
c.2737C>G (p.Pro913Ala)
c.2896-160C>G (n.2896-160C>G)
16g.28835963C>TCA395408842ATXN2Lc.2926C>T (p.Pro976Ser)
c.901C>T (p.Pro301Ser)
n.3300C>T
c.121C>T (p.Pro41Ser)
c.2944C>T (p.Pro982Ser)
c.1990C>T (n.1990C>T)
c.195C>T
c.904C>T (p.Pro302Ser)
c.446C>T
c.2947C>T (p.Pro983Ser)
c.2929C>T (p.Pro977Ser)
c.2767C>T (p.Pro923Ser)
c.2875C>T (p.Pro959Ser)
c.2857C>T (p.Pro953Ser)
c.2581C>T (p.Pro861Ser)
n.3156C>T
c.2749C>T (p.Pro917Ser)
c.2563C>T (p.Pro855Ser)
n.3159C>T
c.2854C>T (p.Pro952Ser)
c.2920C>T (p.Pro974Ser)
c.2872C>T (p.Pro958Ser)
c.2737C>T (p.Pro913Ser)
c.2896-160C>T (n.2896-160C>T)
 COSMIC COSMIC COSMIC COSMIC
16g.28835964C>ACA395408844ATXN2Lc.2927C>A (p.Pro976Gln)
c.902C>A (p.Pro301Gln)
n.3301C>A
c.122C>A (p.Pro41Gln)
c.2945C>A (p.Pro982Gln)
c.1991C>A (n.1991C>A)
c.196C>A
c.905C>A (p.Pro302Gln)
c.447C>A
c.2948C>A (p.Pro983Gln)
c.2930C>A (p.Pro977Gln)
c.2768C>A (p.Pro923Gln)
c.2876C>A (p.Pro959Gln)
c.2858C>A (p.Pro953Gln)
c.2582C>A (p.Pro861Gln)
n.3157C>A
c.2750C>A (p.Pro917Gln)
c.2564C>A (p.Pro855Gln)
n.3160C>A
c.2855C>A (p.Pro952Gln)
c.2921C>A (p.Pro974Gln)
c.2873C>A (p.Pro958Gln)
c.2738C>A (p.Pro913Gln)
c.2896-159C>A (n.2896-159C>A)
16g.28835964C=CA2215806760ATXN2Lc.2927C= (p.Pro976=)
c.902C= (p.Pro301=)
n.3301C=
c.122C= (p.Pro41=)
c.2945C= (p.Pro982=)
c.1991C= (n.1991C=)
c.196C=
c.905C= (p.Pro302=)
c.447C=
c.2948C= (p.Pro983=)
c.2930C= (p.Pro977=)
c.2768C= (p.Pro923=)
c.2876C= (p.Pro959=)
c.2858C= (p.Pro953=)
c.2582C= (p.Pro861=)
n.3157C=
c.2750C= (p.Pro917=)
c.2564C= (p.Pro855=)
n.3160C=
c.2855C= (p.Pro952=)
c.2921C= (p.Pro974=)
c.2873C= (p.Pro958=)
c.2738C= (p.Pro913=)
c.2896-159C= (n.2896-159C=)
16g.28835964C>GCA395408846ATXN2Lc.2927C>G (p.Pro976Arg)
c.902C>G (p.Pro301Arg)
n.3301C>G
c.122C>G (p.Pro41Arg)
c.2945C>G (p.Pro982Arg)
c.1991C>G (n.1991C>G)
c.196C>G
c.905C>G (p.Pro302Arg)
c.447C>G
c.2948C>G (p.Pro983Arg)
c.2930C>G (p.Pro977Arg)
c.2768C>G (p.Pro923Arg)
c.2876C>G (p.Pro959Arg)
c.2858C>G (p.Pro953Arg)
c.2582C>G (p.Pro861Arg)
n.3157C>G
c.2750C>G (p.Pro917Arg)
c.2564C>G (p.Pro855Arg)
n.3160C>G
c.2855C>G (p.Pro952Arg)
c.2921C>G (p.Pro974Arg)
c.2873C>G (p.Pro958Arg)
c.2738C>G (p.Pro913Arg)
c.2896-159C>G (n.2896-159C>G)
16g.28835964C>TCA7985142ATXN2Lc.2927C>T (p.Pro976Leu)
c.902C>T (p.Pro301Leu)
n.3301C>T
c.122C>T (p.Pro41Leu)
c.2945C>T (p.Pro982Leu)
c.1991C>T (n.1991C>T)
c.196C>T
c.905C>T (p.Pro302Leu)
c.447C>T
c.2948C>T (p.Pro983Leu)
c.2930C>T (p.Pro977Leu)
c.2768C>T (p.Pro923Leu)
c.2876C>T (p.Pro959Leu)
c.2858C>T (p.Pro953Leu)
c.2582C>T (p.Pro861Leu)
n.3157C>T
c.2750C>T (p.Pro917Leu)
c.2564C>T (p.Pro855Leu)
n.3160C>T
c.2855C>T (p.Pro952Leu)
c.2921C>T (p.Pro974Leu)
c.2873C>T (p.Pro958Leu)
c.2738C>T (p.Pro913Leu)
c.2896-159C>T (n.2896-159C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835965G>ACA7985144ATXN2Lc.2928G>A (p.Pro976=)
c.903G>A (p.Pro301=)
n.3302G>A
c.123G>A (p.Pro41=)
c.2946G>A (p.Pro982=)
c.1992G>A (n.1992G>A)
c.197G>A
c.906G>A (p.Pro302=)
c.448G>A
c.2949G>A (p.Pro983=)
c.2931G>A (p.Pro977=)
c.2769G>A (p.Pro923=)
c.2877G>A (p.Pro959=)
c.2859G>A (p.Pro953=)
c.2583G>A (p.Pro861=)
n.3158G>A
c.2751G>A (p.Pro917=)
c.2565G>A (p.Pro855=)
n.3161G>A
c.2856G>A (p.Pro952=)
c.2922G>A (p.Pro974=)
c.2874G>A (p.Pro958=)
c.2739G>A (p.Pro913=)
c.2896-158G>A (n.2896-158G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835965G>CCA494868455ATXN2Lc.2928G>C (p.Pro976=)
c.903G>C (p.Pro301=)
n.3302G>C
c.123G>C (p.Pro41=)
c.2946G>C (p.Pro982=)
c.1992G>C (n.1992G>C)
c.197G>C
c.906G>C (p.Pro302=)
c.448G>C
c.2949G>C (p.Pro983=)
c.2931G>C (p.Pro977=)
c.2769G>C (p.Pro923=)
c.2877G>C (p.Pro959=)
c.2859G>C (p.Pro953=)
c.2583G>C (p.Pro861=)
n.3158G>C
c.2751G>C (p.Pro917=)
c.2565G>C (p.Pro855=)
n.3161G>C
c.2856G>C (p.Pro952=)
c.2922G>C (p.Pro974=)
c.2874G>C (p.Pro958=)
c.2739G>C (p.Pro913=)
c.2896-158G>C (n.2896-158G>C)
16g.28835965G=CA2215806761ATXN2Lc.2928G= (p.Pro976=)
c.903G= (p.Pro301=)
n.3302G=
c.123G= (p.Pro41=)
c.2946G= (p.Pro982=)
c.1992G= (n.1992G=)
c.197G=
c.906G= (p.Pro302=)
c.448G=
c.2949G= (p.Pro983=)
c.2931G= (p.Pro977=)
c.2769G= (p.Pro923=)
c.2877G= (p.Pro959=)
c.2859G= (p.Pro953=)
c.2583G= (p.Pro861=)
n.3158G=
c.2751G= (p.Pro917=)
c.2565G= (p.Pro855=)
n.3161G=
c.2856G= (p.Pro952=)
c.2922G= (p.Pro974=)
c.2874G= (p.Pro958=)
c.2739G= (p.Pro913=)
c.2896-158G= (n.2896-158G=)
16g.28835965G>TCA7985143ATXN2Lc.2928G>T (p.Pro976=)
c.903G>T (p.Pro301=)
n.3302G>T
c.123G>T (p.Pro41=)
c.2946G>T (p.Pro982=)
c.1992G>T (n.1992G>T)
c.197G>T
c.906G>T (p.Pro302=)
c.448G>T
c.2949G>T (p.Pro983=)
c.2931G>T (p.Pro977=)
c.2769G>T (p.Pro923=)
c.2877G>T (p.Pro959=)
c.2859G>T (p.Pro953=)
c.2583G>T (p.Pro861=)
n.3158G>T
c.2751G>T (p.Pro917=)
c.2565G>T (p.Pro855=)
n.3161G>T
c.2856G>T (p.Pro952=)
c.2922G>T (p.Pro974=)
c.2874G>T (p.Pro958=)
c.2739G>T (p.Pro913=)
c.2896-158G>T (n.2896-158G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835966C>ACA395408849ATXN2Lc.2929C>A (p.Pro977Thr)
c.904C>A (p.Pro302Thr)
n.3303C>A
c.124C>A (p.Pro42Thr)
c.2947C>A (p.Pro983Thr)
c.1993C>A (n.1993C>A)
c.198C>A
c.907C>A (p.Pro303Thr)
c.449C>A
c.2950C>A (p.Pro984Thr)
c.2932C>A (p.Pro978Thr)
c.2770C>A (p.Pro924Thr)
c.2878C>A (p.Pro960Thr)
c.2860C>A (p.Pro954Thr)
c.2584C>A (p.Pro862Thr)
n.3159C>A
c.2752C>A (p.Pro918Thr)
c.2566C>A (p.Pro856Thr)
n.3162C>A
c.2857C>A (p.Pro953Thr)
c.2923C>A (p.Pro975Thr)
c.2875C>A (p.Pro959Thr)
c.2740C>A (p.Pro914Thr)
c.2896-157C>A (n.2896-157C>A)
16g.28835966C>GCA395408853ATXN2Lc.2929C>G (p.Pro977Ala)
c.904C>G (p.Pro302Ala)
n.3303C>G
c.124C>G (p.Pro42Ala)
c.2947C>G (p.Pro983Ala)
c.1993C>G (n.1993C>G)
c.198C>G
c.907C>G (p.Pro303Ala)
c.449C>G
c.2950C>G (p.Pro984Ala)
c.2932C>G (p.Pro978Ala)
c.2770C>G (p.Pro924Ala)
c.2878C>G (p.Pro960Ala)
c.2860C>G (p.Pro954Ala)
c.2584C>G (p.Pro862Ala)
n.3159C>G
c.2752C>G (p.Pro918Ala)
c.2566C>G (p.Pro856Ala)
n.3162C>G
c.2857C>G (p.Pro953Ala)
c.2923C>G (p.Pro975Ala)
c.2875C>G (p.Pro959Ala)
c.2740C>G (p.Pro914Ala)
c.2896-157C>G (n.2896-157C>G)
16g.28835966C>TCA395408851ATXN2Lc.2929C>T (p.Pro977Ser)
c.904C>T (p.Pro302Ser)
n.3303C>T
c.124C>T (p.Pro42Ser)
c.2947C>T (p.Pro983Ser)
c.1993C>T (n.1993C>T)
c.198C>T
c.907C>T (p.Pro303Ser)
c.449C>T
c.2950C>T (p.Pro984Ser)
c.2932C>T (p.Pro978Ser)
c.2770C>T (p.Pro924Ser)
c.2878C>T (p.Pro960Ser)
c.2860C>T (p.Pro954Ser)
c.2584C>T (p.Pro862Ser)
n.3159C>T
c.2752C>T (p.Pro918Ser)
c.2566C>T (p.Pro856Ser)
n.3162C>T
c.2857C>T (p.Pro953Ser)
c.2923C>T (p.Pro975Ser)
c.2875C>T (p.Pro959Ser)
c.2740C>T (p.Pro914Ser)
c.2896-157C>T (n.2896-157C>T)
16g.28835970dupCA622161856ATXN2Lc.2933dup (p.His979SerfsTer?)
c.908dup (p.His304SerfsTer?)
n.3307dup
c.128dup (p.His44SerfsTer?)
c.2951dup (p.His985SerfsTer?)
c.1997dup (n.1997dup)
c.202dup
c.911dup (p.His305SerfsTer?)
c.453dup
c.2954dup (p.His986SerfsTer?)
c.2936dup (p.His980SerfsTer?)
c.2774dup (p.His926SerfsTer?)
c.2882dup (p.His962SerfsTer?)
c.2864dup (p.His956SerfsTer?)
c.2588dup (p.His864SerfsTer?)
n.3163dup
c.2756dup (p.His920SerfsTer?)
c.2570dup (p.His858SerfsTer?)
n.3166dup
c.2861dup (p.His955SerfsTer?)
c.2927dup (p.His977SerfsTer?)
c.2879dup (p.His961SerfsTer?)
c.2744dup (p.His916SerfsTer?)
c.2896-153dup (n.2896-153dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835970delCA2632529128ATXN2Lc.2933del (p.Pro978LeufsTer11)
c.908del (p.Pro303LeufsTer11)
n.3307del
c.128del (p.Pro43LeufsTer11)
c.2951del (p.Pro984LeufsTer11)
c.1997del (n.1997del)
c.202del
c.911del (p.Pro304LeufsTer11)
c.453del
c.2954del (p.Pro985LeufsTer11)
c.2936del (p.Pro979LeufsTer11)
c.2774del (p.Pro925LeufsTer11)
c.2882del (p.Pro961LeufsTer11)
c.2864del (p.Pro955LeufsTer11)
c.2588del (p.Pro863LeufsTer11)
n.3163del
c.2756del (p.Pro919LeufsTer11)
c.2570del (p.Pro857LeufsTer11)
n.3166del
c.2861del (p.Pro954LeufsTer11)
c.2927del (p.Pro976LeufsTer11)
c.2879del (p.Pro960LeufsTer11)
c.2744del (p.Pro915LeufsTer11)
c.2896-153del (n.2896-153del)
 gnomAD v4
16g.28835967C>ACA395408855ATXN2Lc.2930C>A (p.Pro977His)
c.905C>A (p.Pro302His)
n.3304C>A
c.125C>A (p.Pro42His)
c.2948C>A (p.Pro983His)
c.1994C>A (n.1994C>A)
c.199C>A
c.908C>A (p.Pro303His)
c.450C>A
c.2951C>A (p.Pro984His)
c.2933C>A (p.Pro978His)
c.2771C>A (p.Pro924His)
c.2879C>A (p.Pro960His)
c.2861C>A (p.Pro954His)
c.2585C>A (p.Pro862His)
n.3160C>A
c.2753C>A (p.Pro918His)
c.2567C>A (p.Pro856His)
n.3163C>A
c.2858C>A (p.Pro953His)
c.2924C>A (p.Pro975His)
c.2876C>A (p.Pro959His)
c.2741C>A (p.Pro914His)
c.2896-156C>A (n.2896-156C>A)
16g.28835967C>GCA395408858ATXN2Lc.2930C>G (p.Pro977Arg)
c.905C>G (p.Pro302Arg)
n.3304C>G
c.125C>G (p.Pro42Arg)
c.2948C>G (p.Pro983Arg)
c.1994C>G (n.1994C>G)
c.199C>G
c.908C>G (p.Pro303Arg)
c.450C>G
c.2951C>G (p.Pro984Arg)
c.2933C>G (p.Pro978Arg)
c.2771C>G (p.Pro924Arg)
c.2879C>G (p.Pro960Arg)
c.2861C>G (p.Pro954Arg)
c.2585C>G (p.Pro862Arg)
n.3160C>G
c.2753C>G (p.Pro918Arg)
c.2567C>G (p.Pro856Arg)
n.3163C>G
c.2858C>G (p.Pro953Arg)
c.2924C>G (p.Pro975Arg)
c.2876C>G (p.Pro959Arg)
c.2741C>G (p.Pro914Arg)
c.2896-156C>G (n.2896-156C>G)
16g.28835967C>TCA395408857ATXN2Lc.2930C>T (p.Pro977Leu)
c.905C>T (p.Pro302Leu)
n.3304C>T
c.125C>T (p.Pro42Leu)
c.2948C>T (p.Pro983Leu)
c.1994C>T (n.1994C>T)
c.199C>T
c.908C>T (p.Pro303Leu)
c.450C>T
c.2951C>T (p.Pro984Leu)
c.2933C>T (p.Pro978Leu)
c.2771C>T (p.Pro924Leu)
c.2879C>T (p.Pro960Leu)
c.2861C>T (p.Pro954Leu)
c.2585C>T (p.Pro862Leu)
n.3160C>T
c.2753C>T (p.Pro918Leu)
c.2567C>T (p.Pro856Leu)
n.3163C>T
c.2858C>T (p.Pro953Leu)
c.2924C>T (p.Pro975Leu)
c.2876C>T (p.Pro959Leu)
c.2741C>T (p.Pro914Leu)
c.2896-156C>T (n.2896-156C>T)
 gnomAD v4
16g.28835968C>ACA494868475ATXN2Lc.2931C>A (p.Pro977=)
c.906C>A (p.Pro302=)
n.3305C>A
c.126C>A (p.Pro42=)
c.2949C>A (p.Pro983=)
c.1995C>A (n.1995C>A)
c.200C>A
c.909C>A (p.Pro303=)
c.451C>A
c.2952C>A (p.Pro984=)
c.2934C>A (p.Pro978=)
c.2772C>A (p.Pro924=)
c.2880C>A (p.Pro960=)
c.2862C>A (p.Pro954=)
c.2586C>A (p.Pro862=)
n.3161C>A
c.2754C>A (p.Pro918=)
c.2568C>A (p.Pro856=)
n.3164C>A
c.2859C>A (p.Pro953=)
c.2925C>A (p.Pro975=)
c.2877C>A (p.Pro959=)
c.2742C>A (p.Pro914=)
c.2896-155C>A (n.2896-155C>A)
16g.28835968C>GCA494868469ATXN2Lc.2931C>G (p.Pro977=)
c.906C>G (p.Pro302=)
n.3305C>G
c.126C>G (p.Pro42=)
c.2949C>G (p.Pro983=)
c.1995C>G (n.1995C>G)
c.200C>G
c.909C>G (p.Pro303=)
c.451C>G
c.2952C>G (p.Pro984=)
c.2934C>G (p.Pro978=)
c.2772C>G (p.Pro924=)
c.2880C>G (p.Pro960=)
c.2862C>G (p.Pro954=)
c.2586C>G (p.Pro862=)
n.3161C>G
c.2754C>G (p.Pro918=)
c.2568C>G (p.Pro856=)
n.3164C>G
c.2859C>G (p.Pro953=)
c.2925C>G (p.Pro975=)
c.2877C>G (p.Pro959=)
c.2742C>G (p.Pro914=)
c.2896-155C>G (n.2896-155C>G)
16g.28835968C>TCA494868473ATXN2Lc.2931C>T (p.Pro977=)
c.906C>T (p.Pro302=)
n.3305C>T
c.126C>T (p.Pro42=)
c.2949C>T (p.Pro983=)
c.1995C>T (n.1995C>T)
c.200C>T
c.909C>T (p.Pro303=)
c.451C>T
c.2952C>T (p.Pro984=)
c.2934C>T (p.Pro978=)
c.2772C>T (p.Pro924=)
c.2880C>T (p.Pro960=)
c.2862C>T (p.Pro954=)
c.2586C>T (p.Pro862=)
n.3161C>T
c.2754C>T (p.Pro918=)
c.2568C>T (p.Pro856=)
n.3164C>T
c.2859C>T (p.Pro953=)
c.2925C>T (p.Pro975=)
c.2877C>T (p.Pro959=)
c.2742C>T (p.Pro914=)
c.2896-155C>T (n.2896-155C>T)
16g.28835969C>ACA395408861ATXN2Lc.2932C>A (p.Pro978Thr)
c.907C>A (p.Pro303Thr)
n.3306C>A
c.127C>A (p.Pro43Thr)
c.2950C>A (p.Pro984Thr)
c.1996C>A (n.1996C>A)
c.201C>A
c.910C>A (p.Pro304Thr)
c.452C>A
c.2953C>A (p.Pro985Thr)
c.2935C>A (p.Pro979Thr)
c.2773C>A (p.Pro925Thr)
c.2881C>A (p.Pro961Thr)
c.2863C>A (p.Pro955Thr)
c.2587C>A (p.Pro863Thr)
n.3162C>A
c.2755C>A (p.Pro919Thr)
c.2569C>A (p.Pro857Thr)
n.3165C>A
c.2860C>A (p.Pro954Thr)
c.2926C>A (p.Pro976Thr)
c.2878C>A (p.Pro960Thr)
c.2743C>A (p.Pro915Thr)
c.2896-154C>A (n.2896-154C>A)
16g.28835969C>GCA395408864ATXN2Lc.2932C>G (p.Pro978Ala)
c.907C>G (p.Pro303Ala)
n.3306C>G
c.127C>G (p.Pro43Ala)
c.2950C>G (p.Pro984Ala)
c.1996C>G (n.1996C>G)
c.201C>G
c.910C>G (p.Pro304Ala)
c.452C>G
c.2953C>G (p.Pro985Ala)
c.2935C>G (p.Pro979Ala)
c.2773C>G (p.Pro925Ala)
c.2881C>G (p.Pro961Ala)
c.2863C>G (p.Pro955Ala)
c.2587C>G (p.Pro863Ala)
n.3162C>G
c.2755C>G (p.Pro919Ala)
c.2569C>G (p.Pro857Ala)
n.3165C>G
c.2860C>G (p.Pro954Ala)
c.2926C>G (p.Pro976Ala)
c.2878C>G (p.Pro960Ala)
c.2743C>G (p.Pro915Ala)
c.2896-154C>G (n.2896-154C>G)
 gnomAD v4
16g.28835969C>TCA395408863ATXN2Lc.2932C>T (p.Pro978Ser)
c.907C>T (p.Pro303Ser)
n.3306C>T
c.127C>T (p.Pro43Ser)
c.2950C>T (p.Pro984Ser)
c.1996C>T (n.1996C>T)
c.201C>T
c.910C>T (p.Pro304Ser)
c.452C>T
c.2953C>T (p.Pro985Ser)
c.2935C>T (p.Pro979Ser)
c.2773C>T (p.Pro925Ser)
c.2881C>T (p.Pro961Ser)
c.2863C>T (p.Pro955Ser)
c.2587C>T (p.Pro863Ser)
n.3162C>T
c.2755C>T (p.Pro919Ser)
c.2569C>T (p.Pro857Ser)
n.3165C>T
c.2860C>T (p.Pro954Ser)
c.2926C>T (p.Pro976Ser)
c.2878C>T (p.Pro960Ser)
c.2743C>T (p.Pro915Ser)
c.2896-154C>T (n.2896-154C>T)
16g.28835970C>ACA395408866ATXN2Lc.2933C>A (p.Pro978His)
c.908C>A (p.Pro303His)
n.3307C>A
c.128C>A (p.Pro43His)
c.2951C>A (p.Pro984His)
c.1997C>A (n.1997C>A)
c.202C>A
c.911C>A (p.Pro304His)
c.453C>A
c.2954C>A (p.Pro985His)
c.2936C>A (p.Pro979His)
c.2774C>A (p.Pro925His)
c.2882C>A (p.Pro961His)
c.2864C>A (p.Pro955His)
c.2588C>A (p.Pro863His)
n.3163C>A
c.2756C>A (p.Pro919His)
c.2570C>A (p.Pro857His)
n.3166C>A
c.2861C>A (p.Pro954His)
c.2927C>A (p.Pro976His)
c.2879C>A (p.Pro960His)
c.2744C>A (p.Pro915His)
c.2896-153C>A (n.2896-153C>A)
16g.28835970C>GCA395408870ATXN2Lc.2933C>G (p.Pro978Arg)
c.908C>G (p.Pro303Arg)
n.3307C>G
c.128C>G (p.Pro43Arg)
c.2951C>G (p.Pro984Arg)
c.1997C>G (n.1997C>G)
c.202C>G
c.911C>G (p.Pro304Arg)
c.453C>G
c.2954C>G (p.Pro985Arg)
c.2936C>G (p.Pro979Arg)
c.2774C>G (p.Pro925Arg)
c.2882C>G (p.Pro961Arg)
c.2864C>G (p.Pro955Arg)
c.2588C>G (p.Pro863Arg)
n.3163C>G
c.2756C>G (p.Pro919Arg)
c.2570C>G (p.Pro857Arg)
n.3166C>G
c.2861C>G (p.Pro954Arg)
c.2927C>G (p.Pro976Arg)
c.2879C>G (p.Pro960Arg)
c.2744C>G (p.Pro915Arg)
c.2896-153C>G (n.2896-153C>G)
16g.28835970C>TCA395408868ATXN2Lc.2933C>T (p.Pro978Leu)
c.908C>T (p.Pro303Leu)
n.3307C>T
c.128C>T (p.Pro43Leu)
c.2951C>T (p.Pro984Leu)
c.1997C>T (n.1997C>T)
c.202C>T
c.911C>T (p.Pro304Leu)
c.453C>T
c.2954C>T (p.Pro985Leu)
c.2936C>T (p.Pro979Leu)
c.2774C>T (p.Pro925Leu)
c.2882C>T (p.Pro961Leu)
c.2864C>T (p.Pro955Leu)
c.2588C>T (p.Pro863Leu)
n.3163C>T
c.2756C>T (p.Pro919Leu)
c.2570C>T (p.Pro857Leu)
n.3166C>T
c.2861C>T (p.Pro954Leu)
c.2927C>T (p.Pro976Leu)
c.2879C>T (p.Pro960Leu)
c.2744C>T (p.Pro915Leu)
c.2896-153C>T (n.2896-153C>T)
16g.28835971T>ACA494868490ATXN2Lc.2934T>A (p.Pro978=)
c.909T>A (p.Pro303=)
n.3308T>A
c.129T>A (p.Pro43=)
c.2952T>A (p.Pro984=)
c.1998T>A (n.1998T>A)
c.203T>A
c.912T>A (p.Pro304=)
c.454T>A
c.2955T>A (p.Pro985=)
c.2937T>A (p.Pro979=)
c.2775T>A (p.Pro925=)
c.2883T>A (p.Pro961=)
c.2865T>A (p.Pro955=)
c.2589T>A (p.Pro863=)
n.3164T>A
c.2757T>A (p.Pro919=)
c.2571T>A (p.Pro857=)
n.3167T>A
c.2862T>A (p.Pro954=)
c.2928T>A (p.Pro976=)
c.2880T>A (p.Pro960=)
c.2745T>A (p.Pro915=)
c.2896-152T>A (n.2896-152T>A)
16g.28835971T>CCA494868492ATXN2Lc.2934T>C (p.Pro978=)
c.909T>C (p.Pro303=)
n.3308T>C
c.129T>C (p.Pro43=)
c.2952T>C (p.Pro984=)
c.1998T>C (n.1998T>C)
c.203T>C
c.912T>C (p.Pro304=)
c.454T>C
c.2955T>C (p.Pro985=)
c.2937T>C (p.Pro979=)
c.2775T>C (p.Pro925=)
c.2883T>C (p.Pro961=)
c.2865T>C (p.Pro955=)
c.2589T>C (p.Pro863=)
n.3164T>C
c.2757T>C (p.Pro919=)
c.2571T>C (p.Pro857=)
n.3167T>C
c.2862T>C (p.Pro954=)
c.2928T>C (p.Pro976=)
c.2880T>C (p.Pro960=)
c.2745T>C (p.Pro915=)
c.2896-152T>C (n.2896-152T>C)
16g.28835971T>GCA494868491ATXN2Lc.2934T>G (p.Pro978=)
c.909T>G (p.Pro303=)
n.3308T>G
c.129T>G (p.Pro43=)
c.2952T>G (p.Pro984=)
c.1998T>G (n.1998T>G)
c.203T>G
c.912T>G (p.Pro304=)
c.454T>G
c.2955T>G (p.Pro985=)
c.2937T>G (p.Pro979=)
c.2775T>G (p.Pro925=)
c.2883T>G (p.Pro961=)
c.2865T>G (p.Pro955=)
c.2589T>G (p.Pro863=)
n.3164T>G
c.2757T>G (p.Pro919=)
c.2571T>G (p.Pro857=)
n.3167T>G
c.2862T>G (p.Pro954=)
c.2928T>G (p.Pro976=)
c.2880T>G (p.Pro960=)
c.2745T>G (p.Pro915=)
c.2896-152T>G (n.2896-152T>G)
16g.28835972C>ACA395408872ATXN2Lc.2935C>A (p.His979Asn)
c.910C>A (p.His304Asn)
n.3309C>A
c.130C>A (p.His44Asn)
c.2953C>A (p.His985Asn)
c.1999C>A (n.1999C>A)
c.204C>A
c.913C>A (p.His305Asn)
c.455C>A
c.2956C>A (p.His986Asn)
c.2938C>A (p.His980Asn)
c.2776C>A (p.His926Asn)
c.2884C>A (p.His962Asn)
c.2866C>A (p.His956Asn)
c.2590C>A (p.His864Asn)
n.3165C>A
c.2758C>A (p.His920Asn)
c.2572C>A (p.His858Asn)
n.3168C>A
c.2863C>A (p.His955Asn)
c.2929C>A (p.His977Asn)
c.2881C>A (p.His961Asn)
c.2746C>A (p.His916Asn)
c.2896-151C>A (n.2896-151C>A)
 gnomAD v4
16g.28835972C>GCA395408874ATXN2Lc.2935C>G (p.His979Asp)
c.910C>G (p.His304Asp)
n.3309C>G
c.130C>G (p.His44Asp)
c.2953C>G (p.His985Asp)
c.1999C>G (n.1999C>G)
c.204C>G
c.913C>G (p.His305Asp)
c.455C>G
c.2956C>G (p.His986Asp)
c.2938C>G (p.His980Asp)
c.2776C>G (p.His926Asp)
c.2884C>G (p.His962Asp)
c.2866C>G (p.His956Asp)
c.2590C>G (p.His864Asp)
n.3165C>G
c.2758C>G (p.His920Asp)
c.2572C>G (p.His858Asp)
n.3168C>G
c.2863C>G (p.His955Asp)
c.2929C>G (p.His977Asp)
c.2881C>G (p.His961Asp)
c.2746C>G (p.His916Asp)
c.2896-151C>G (n.2896-151C>G)
16g.28835972C>TCA395408875ATXN2Lc.2935C>T (p.His979Tyr)
c.910C>T (p.His304Tyr)
n.3309C>T
c.130C>T (p.His44Tyr)
c.2953C>T (p.His985Tyr)
c.1999C>T (n.1999C>T)
c.204C>T
c.913C>T (p.His305Tyr)
c.455C>T
c.2956C>T (p.His986Tyr)
c.2938C>T (p.His980Tyr)
c.2776C>T (p.His926Tyr)
c.2884C>T (p.His962Tyr)
c.2866C>T (p.His956Tyr)
c.2590C>T (p.His864Tyr)
n.3165C>T
c.2758C>T (p.His920Tyr)
c.2572C>T (p.His858Tyr)
n.3168C>T
c.2863C>T (p.His955Tyr)
c.2929C>T (p.His977Tyr)
c.2881C>T (p.His961Tyr)
c.2746C>T (p.His916Tyr)
c.2896-151C>T (n.2896-151C>T)
 gnomAD v4
16g.28835973A=CA2215806765ATXN2Lc.2936A= (p.His979=)
c.911A= (p.His304=)
n.3310A=
c.131A= (p.His44=)
c.2954A= (p.His985=)
c.2000A= (n.2000A=)
c.205A=
c.914A= (p.His305=)
c.456A=
c.2957A= (p.His986=)
c.2939A= (p.His980=)
c.2777A= (p.His926=)
c.2885A= (p.His962=)
c.2867A= (p.His956=)
c.2591A= (p.His864=)
n.3166A=
c.2759A= (p.His920=)
c.2573A= (p.His858=)
n.3169A=
c.2864A= (p.His955=)
c.2930A= (p.His977=)
c.2882A= (p.His961=)
c.2747A= (p.His916=)
c.2896-150A= (n.2896-150A=)
16g.28835973A>CCA395408878ATXN2Lc.2936A>C (p.His979Pro)
c.911A>C (p.His304Pro)
n.3310A>C
c.131A>C (p.His44Pro)
c.2954A>C (p.His985Pro)
c.2000A>C (n.2000A>C)
c.205A>C
c.914A>C (p.His305Pro)
c.456A>C
c.2957A>C (p.His986Pro)
c.2939A>C (p.His980Pro)
c.2777A>C (p.His926Pro)
c.2885A>C (p.His962Pro)
c.2867A>C (p.His956Pro)
c.2591A>C (p.His864Pro)
n.3166A>C
c.2759A>C (p.His920Pro)
c.2573A>C (p.His858Pro)
n.3169A>C
c.2864A>C (p.His955Pro)
c.2930A>C (p.His977Pro)
c.2882A>C (p.His961Pro)
c.2747A>C (p.His916Pro)
c.2896-150A>C (n.2896-150A>C)
 dbSNP
16g.28835973A>GCA395408880ATXN2Lc.2936A>G (p.His979Arg)
c.911A>G (p.His304Arg)
n.3310A>G
c.131A>G (p.His44Arg)
c.2954A>G (p.His985Arg)
c.2000A>G (n.2000A>G)
c.205A>G
c.914A>G (p.His305Arg)
c.456A>G
c.2957A>G (p.His986Arg)
c.2939A>G (p.His980Arg)
c.2777A>G (p.His926Arg)
c.2885A>G (p.His962Arg)
c.2867A>G (p.His956Arg)
c.2591A>G (p.His864Arg)
n.3166A>G
c.2759A>G (p.His920Arg)
c.2573A>G (p.His858Arg)
n.3169A>G
c.2864A>G (p.His955Arg)
c.2930A>G (p.His977Arg)
c.2882A>G (p.His961Arg)
c.2747A>G (p.His916Arg)
c.2896-150A>G (n.2896-150A>G)
16g.28835973A>TCA395408882ATXN2Lc.2936A>T (p.His979Leu)
c.911A>T (p.His304Leu)
n.3310A>T
c.131A>T (p.His44Leu)
c.2954A>T (p.His985Leu)
c.2000A>T (n.2000A>T)
c.205A>T
c.914A>T (p.His305Leu)
c.456A>T
c.2957A>T (p.His986Leu)
c.2939A>T (p.His980Leu)
c.2777A>T (p.His926Leu)
c.2885A>T (p.His962Leu)
c.2867A>T (p.His956Leu)
c.2591A>T (p.His864Leu)
n.3166A>T
c.2759A>T (p.His920Leu)
c.2573A>T (p.His858Leu)
n.3169A>T
c.2864A>T (p.His955Leu)
c.2930A>T (p.His977Leu)
c.2882A>T (p.His961Leu)
c.2747A>T (p.His916Leu)
c.2896-150A>T (n.2896-150A>T)
16g.28835974C>ACA395408886ATXN2Lc.2937C>A (p.His979Gln)
c.912C>A (p.His304Gln)
n.3311C>A
c.132C>A (p.His44Gln)
c.2955C>A (p.His985Gln)
c.2001C>A (n.2001C>A)
c.206C>A
c.915C>A (p.His305Gln)
c.457C>A
c.2958C>A (p.His986Gln)
c.2940C>A (p.His980Gln)
c.2778C>A (p.His926Gln)
c.2886C>A (p.His962Gln)
c.2868C>A (p.His956Gln)
c.2592C>A (p.His864Gln)
n.3167C>A
c.2760C>A (p.His920Gln)
c.2574C>A (p.His858Gln)
n.3170C>A
c.2865C>A (p.His955Gln)
c.2931C>A (p.His977Gln)
c.2883C>A (p.His961Gln)
c.2748C>A (p.His916Gln)
c.2896-149C>A (n.2896-149C>A)
 gnomAD v4
16g.28835974C=CA2215806767ATXN2Lc.2937C= (p.His979=)
c.912C= (p.His304=)
n.3311C=
c.132C= (p.His44=)
c.2955C= (p.His985=)
c.2001C= (n.2001C=)
c.206C=
c.915C= (p.His305=)
c.457C=
c.2958C= (p.His986=)
c.2940C= (p.His980=)
c.2778C= (p.His926=)
c.2886C= (p.His962=)
c.2868C= (p.His956=)
c.2592C= (p.His864=)
n.3167C=
c.2760C= (p.His920=)
c.2574C= (p.His858=)
n.3170C=
c.2865C= (p.His955=)
c.2931C= (p.His977=)
c.2883C= (p.His961=)
c.2748C= (p.His916=)
c.2896-149C= (n.2896-149C=)
16g.28835974C>GCA395408884ATXN2Lc.2937C>G (p.His979Gln)
c.912C>G (p.His304Gln)
n.3311C>G
c.132C>G (p.His44Gln)
c.2955C>G (p.His985Gln)
c.2001C>G (n.2001C>G)
c.206C>G
c.915C>G (p.His305Gln)
c.457C>G
c.2958C>G (p.His986Gln)
c.2940C>G (p.His980Gln)
c.2778C>G (p.His926Gln)
c.2886C>G (p.His962Gln)
c.2868C>G (p.His956Gln)
c.2592C>G (p.His864Gln)
n.3167C>G
c.2760C>G (p.His920Gln)
c.2574C>G (p.His858Gln)
n.3170C>G
c.2865C>G (p.His955Gln)
c.2931C>G (p.His977Gln)
c.2883C>G (p.His961Gln)
c.2748C>G (p.His916Gln)
c.2896-149C>G (n.2896-149C>G)
16g.28835974C>TCA279230881ATXN2Lc.2937C>T (p.His979=)
c.912C>T (p.His304=)
n.3311C>T
c.132C>T (p.His44=)
c.2955C>T (p.His985=)
c.2001C>T (n.2001C>T)
c.206C>T
c.915C>T (p.His305=)
c.457C>T
c.2958C>T (p.His986=)
c.2940C>T (p.His980=)
c.2778C>T (p.His926=)
c.2886C>T (p.His962=)
c.2868C>T (p.His956=)
c.2592C>T (p.His864=)
n.3167C>T
c.2760C>T (p.His920=)
c.2574C>T (p.His858=)
n.3170C>T
c.2865C>T (p.His955=)
c.2931C>T (p.His977=)
c.2883C>T (p.His961=)
c.2748C>T (p.His916=)
c.2896-149C>T (n.2896-149C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.28835975C>ACA395408888ATXN2Lc.2938C>A (p.Pro980Thr)
c.913C>A (p.Pro305Thr)
n.3312C>A
c.133C>A (p.Pro45Thr)
c.2956C>A (p.Pro986Thr)
c.2002C>A (n.2002C>A)
c.207C>A
c.916C>A (p.Pro306Thr)
c.458C>A
c.2959C>A (p.Pro987Thr)
c.2941C>A (p.Pro981Thr)
c.2779C>A (p.Pro927Thr)
c.2887C>A (p.Pro963Thr)
c.2869C>A (p.Pro957Thr)
c.2593C>A (p.Pro865Thr)
n.3168C>A
c.2761C>A (p.Pro921Thr)
c.2575C>A (p.Pro859Thr)
n.3171C>A
c.2866C>A (p.Pro956Thr)
c.2932C>A (p.Pro978Thr)
c.2884C>A (p.Pro962Thr)
c.2749C>A (p.Pro917Thr)
c.2896-148C>A (n.2896-148C>A)
16g.28835975C=CA2215806769ATXN2Lc.2938C= (p.Pro980=)
c.913C= (p.Pro305=)
n.3312C=
c.133C= (p.Pro45=)
c.2956C= (p.Pro986=)
c.2002C= (n.2002C=)
c.207C=
c.916C= (p.Pro306=)
c.458C=
c.2959C= (p.Pro987=)
c.2941C= (p.Pro981=)
c.2779C= (p.Pro927=)
c.2887C= (p.Pro963=)
c.2869C= (p.Pro957=)
c.2593C= (p.Pro865=)
n.3168C=
c.2761C= (p.Pro921=)
c.2575C= (p.Pro859=)
n.3171C=
c.2866C= (p.Pro956=)
c.2932C= (p.Pro978=)
c.2884C= (p.Pro962=)
c.2749C= (p.Pro917=)
c.2896-148C= (n.2896-148C=)
16g.28835975C>GCA395408890ATXN2Lc.2938C>G (p.Pro980Ala)
c.913C>G (p.Pro305Ala)
n.3312C>G
c.133C>G (p.Pro45Ala)
c.2956C>G (p.Pro986Ala)
c.2002C>G (n.2002C>G)
c.207C>G
c.916C>G (p.Pro306Ala)
c.458C>G
c.2959C>G (p.Pro987Ala)
c.2941C>G (p.Pro981Ala)
c.2779C>G (p.Pro927Ala)
c.2887C>G (p.Pro963Ala)
c.2869C>G (p.Pro957Ala)
c.2593C>G (p.Pro865Ala)
n.3168C>G
c.2761C>G (p.Pro921Ala)
c.2575C>G (p.Pro859Ala)
n.3171C>G
c.2866C>G (p.Pro956Ala)
c.2932C>G (p.Pro978Ala)
c.2884C>G (p.Pro962Ala)
c.2749C>G (p.Pro917Ala)
c.2896-148C>G (n.2896-148C>G)
16g.28835975C>TCA279230883ATXN2Lc.2938C>T (p.Pro980Ser)
c.913C>T (p.Pro305Ser)
n.3312C>T
c.133C>T (p.Pro45Ser)
c.2956C>T (p.Pro986Ser)
c.2002C>T (n.2002C>T)
c.207C>T
c.916C>T (p.Pro306Ser)
c.458C>T
c.2959C>T (p.Pro987Ser)
c.2941C>T (p.Pro981Ser)
c.2779C>T (p.Pro927Ser)
c.2887C>T (p.Pro963Ser)
c.2869C>T (p.Pro957Ser)
c.2593C>T (p.Pro865Ser)
n.3168C>T
c.2761C>T (p.Pro921Ser)
c.2575C>T (p.Pro859Ser)
n.3171C>T
c.2866C>T (p.Pro956Ser)
c.2932C>T (p.Pro978Ser)
c.2884C>T (p.Pro962Ser)
c.2749C>T (p.Pro917Ser)
c.2896-148C>T (n.2896-148C>T)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835976C>ACA395408893ATXN2Lc.2939C>A (p.Pro980His)
c.914C>A (p.Pro305His)
n.3313C>A
c.134C>A (p.Pro45His)
c.2957C>A (p.Pro986His)
c.2003C>A (n.2003C>A)
c.208C>A
c.917C>A (p.Pro306His)
c.459C>A
c.2960C>A (p.Pro987His)
c.2942C>A (p.Pro981His)
c.2780C>A (p.Pro927His)
c.2888C>A (p.Pro963His)
c.2870C>A (p.Pro957His)
c.2594C>A (p.Pro865His)
n.3169C>A
c.2762C>A (p.Pro921His)
c.2576C>A (p.Pro859His)
n.3172C>A
c.2867C>A (p.Pro956His)
c.2933C>A (p.Pro978His)
c.2885C>A (p.Pro962His)
c.2750C>A (p.Pro917His)
c.2896-147C>A (n.2896-147C>A)
16g.28835976C=CA2215806773ATXN2Lc.2939C= (p.Pro980=)
c.914C= (p.Pro305=)
n.3313C=
c.134C= (p.Pro45=)
c.2957C= (p.Pro986=)
c.2003C= (n.2003C=)
c.208C=
c.917C= (p.Pro306=)
c.459C=
c.2960C= (p.Pro987=)
c.2942C= (p.Pro981=)
c.2780C= (p.Pro927=)
c.2888C= (p.Pro963=)
c.2870C= (p.Pro957=)
c.2594C= (p.Pro865=)
n.3169C=
c.2762C= (p.Pro921=)
c.2576C= (p.Pro859=)
n.3172C=
c.2867C= (p.Pro956=)
c.2933C= (p.Pro978=)
c.2885C= (p.Pro962=)
c.2750C= (p.Pro917=)
c.2896-147C= (n.2896-147C=)
16g.28835976C>GCA395408894ATXN2Lc.2939C>G (p.Pro980Arg)
c.914C>G (p.Pro305Arg)
n.3313C>G
c.134C>G (p.Pro45Arg)
c.2957C>G (p.Pro986Arg)
c.2003C>G (n.2003C>G)
c.208C>G
c.917C>G (p.Pro306Arg)
c.459C>G
c.2960C>G (p.Pro987Arg)
c.2942C>G (p.Pro981Arg)
c.2780C>G (p.Pro927Arg)
c.2888C>G (p.Pro963Arg)
c.2870C>G (p.Pro957Arg)
c.2594C>G (p.Pro865Arg)
n.3169C>G
c.2762C>G (p.Pro921Arg)
c.2576C>G (p.Pro859Arg)
n.3172C>G
c.2867C>G (p.Pro956Arg)
c.2933C>G (p.Pro978Arg)
c.2885C>G (p.Pro962Arg)
c.2750C>G (p.Pro917Arg)
c.2896-147C>G (n.2896-147C>G)
16g.28835976C>TCA395408896ATXN2Lc.2939C>T (p.Pro980Leu)
c.914C>T (p.Pro305Leu)
n.3313C>T
c.134C>T (p.Pro45Leu)
c.2957C>T (p.Pro986Leu)
c.2003C>T (n.2003C>T)
c.208C>T
c.917C>T (p.Pro306Leu)
c.459C>T
c.2960C>T (p.Pro987Leu)
c.2942C>T (p.Pro981Leu)
c.2780C>T (p.Pro927Leu)
c.2888C>T (p.Pro963Leu)
c.2870C>T (p.Pro957Leu)
c.2594C>T (p.Pro865Leu)
n.3169C>T
c.2762C>T (p.Pro921Leu)
c.2576C>T (p.Pro859Leu)
n.3172C>T
c.2867C>T (p.Pro956Leu)
c.2933C>T (p.Pro978Leu)
c.2885C>T (p.Pro962Leu)
c.2750C>T (p.Pro917Leu)
c.2896-147C>T (n.2896-147C>T)
 dbSNP
16g.28835977T>ACA494868554ATXN2Lc.2940T>A (p.Pro980=)
c.915T>A (p.Pro305=)
n.3314T>A
c.135T>A (p.Pro45=)
c.2958T>A (p.Pro986=)
c.2004T>A (n.2004T>A)
c.209T>A
c.918T>A (p.Pro306=)
c.460T>A
c.2961T>A (p.Pro987=)
c.2943T>A (p.Pro981=)
c.2781T>A (p.Pro927=)
c.2889T>A (p.Pro963=)
c.2871T>A (p.Pro957=)
c.2595T>A (p.Pro865=)
n.3170T>A
c.2763T>A (p.Pro921=)
c.2577T>A (p.Pro859=)
n.3173T>A
c.2868T>A (p.Pro956=)
c.2934T>A (p.Pro978=)
c.2886T>A (p.Pro962=)
c.2751T>A (p.Pro917=)
c.2896-146T>A (n.2896-146T>A)
16g.28835977T>CCA494868558ATXN2Lc.2940T>C (p.Pro980=)
c.915T>C (p.Pro305=)
n.3314T>C
c.135T>C (p.Pro45=)
c.2958T>C (p.Pro986=)
c.2004T>C (n.2004T>C)
c.209T>C
c.918T>C (p.Pro306=)
c.460T>C
c.2961T>C (p.Pro987=)
c.2943T>C (p.Pro981=)
c.2781T>C (p.Pro927=)
c.2889T>C (p.Pro963=)
c.2871T>C (p.Pro957=)
c.2595T>C (p.Pro865=)
n.3170T>C
c.2763T>C (p.Pro921=)
c.2577T>C (p.Pro859=)
n.3173T>C
c.2868T>C (p.Pro956=)
c.2934T>C (p.Pro978=)
c.2886T>C (p.Pro962=)
c.2751T>C (p.Pro917=)
c.2896-146T>C (n.2896-146T>C)
 dbSNP gnomAD v4
16g.28835977T>GCA494868555ATXN2Lc.2940T>G (p.Pro980=)
c.915T>G (p.Pro305=)
n.3314T>G
c.135T>G (p.Pro45=)
c.2958T>G (p.Pro986=)
c.2004T>G (n.2004T>G)
c.209T>G
c.918T>G (p.Pro306=)
c.460T>G
c.2961T>G (p.Pro987=)
c.2943T>G (p.Pro981=)
c.2781T>G (p.Pro927=)
c.2889T>G (p.Pro963=)
c.2871T>G (p.Pro957=)
c.2595T>G (p.Pro865=)
n.3170T>G
c.2763T>G (p.Pro921=)
c.2577T>G (p.Pro859=)
n.3173T>G
c.2868T>G (p.Pro956=)
c.2934T>G (p.Pro978=)
c.2886T>G (p.Pro962=)
c.2751T>G (p.Pro917=)
c.2896-146T>G (n.2896-146T>G)
16g.28835977T=CA2215806774ATXN2Lc.2940T= (p.Pro980=)
c.915T= (p.Pro305=)
n.3314T=
c.135T= (p.Pro45=)
c.2958T= (p.Pro986=)
c.2004T= (n.2004T=)
c.209T=
c.918T= (p.Pro306=)
c.460T=
c.2961T= (p.Pro987=)
c.2943T= (p.Pro981=)
c.2781T= (p.Pro927=)
c.2889T= (p.Pro963=)
c.2871T= (p.Pro957=)
c.2595T= (p.Pro865=)
n.3170T=
c.2763T= (p.Pro921=)
c.2577T= (p.Pro859=)
n.3173T=
c.2868T= (p.Pro956=)
c.2934T= (p.Pro978=)
c.2886T= (p.Pro962=)
c.2751T= (p.Pro917=)
c.2896-146T= (n.2896-146T=)
16g.28835978G>ACA395408900ATXN2Lc.2941G>A (p.Gly981Arg)
c.916G>A (p.Gly306Arg)
n.3315G>A
c.136G>A (p.Gly46Arg)
c.2959G>A (p.Gly987Arg)
c.2005G>A (n.2005G>A)
c.210G>A
c.919G>A (p.Gly307Arg)
c.461G>A
c.2962G>A (p.Gly988Arg)
c.2944G>A (p.Gly982Arg)
c.2782G>A (p.Gly928Arg)
c.2890G>A (p.Gly964Arg)
c.2872G>A (p.Gly958Arg)
c.2596G>A (p.Gly866Arg)
n.3171G>A
c.2764G>A (p.Gly922Arg)
c.2578G>A (p.Gly860Arg)
n.3174G>A
c.2869G>A (p.Gly957Arg)
c.2935G>A (p.Gly979Arg)
c.2887G>A (p.Gly963Arg)
c.2752G>A (p.Gly918Arg)
c.2896-145G>A (n.2896-145G>A)
16g.28835978G>CCA395408897ATXN2Lc.2941G>C (p.Gly981Arg)
c.916G>C (p.Gly306Arg)
n.3315G>C
c.136G>C (p.Gly46Arg)
c.2959G>C (p.Gly987Arg)
c.2005G>C (n.2005G>C)
c.210G>C
c.919G>C (p.Gly307Arg)
c.461G>C
c.2962G>C (p.Gly988Arg)
c.2944G>C (p.Gly982Arg)
c.2782G>C (p.Gly928Arg)
c.2890G>C (p.Gly964Arg)
c.2872G>C (p.Gly958Arg)
c.2596G>C (p.Gly866Arg)
n.3171G>C
c.2764G>C (p.Gly922Arg)
c.2578G>C (p.Gly860Arg)
n.3174G>C
c.2869G>C (p.Gly957Arg)
c.2935G>C (p.Gly979Arg)
c.2887G>C (p.Gly963Arg)
c.2752G>C (p.Gly918Arg)
c.2896-145G>C (n.2896-145G>C)
16g.28835978G>TCA395408898ATXN2Lc.2941G>T (p.Gly981Trp)
c.916G>T (p.Gly306Trp)
n.3315G>T
c.136G>T (p.Gly46Trp)
c.2959G>T (p.Gly987Trp)
c.2005G>T (n.2005G>T)
c.210G>T
c.919G>T (p.Gly307Trp)
c.461G>T
c.2962G>T (p.Gly988Trp)
c.2944G>T (p.Gly982Trp)
c.2782G>T (p.Gly928Trp)
c.2890G>T (p.Gly964Trp)
c.2872G>T (p.Gly958Trp)
c.2596G>T (p.Gly866Trp)
n.3171G>T
c.2764G>T (p.Gly922Trp)
c.2578G>T (p.Gly860Trp)
n.3174G>T
c.2869G>T (p.Gly957Trp)
c.2935G>T (p.Gly979Trp)
c.2887G>T (p.Gly963Trp)
c.2752G>T (p.Gly918Trp)
c.2896-145G>T (n.2896-145G>T)
16g.28835979G>ACA395408901ATXN2Lc.2942G>A (p.Gly981Glu)
c.917G>A (p.Gly306Glu)
n.3316G>A
c.137G>A (p.Gly46Glu)
c.2960G>A (p.Gly987Glu)
c.2006G>A (n.2006G>A)
c.211G>A
c.920G>A (p.Gly307Glu)
c.462G>A
c.2963G>A (p.Gly988Glu)
c.2945G>A (p.Gly982Glu)
c.2783G>A (p.Gly928Glu)
c.2891G>A (p.Gly964Glu)
c.2873G>A (p.Gly958Glu)
c.2597G>A (p.Gly866Glu)
n.3172G>A
c.2765G>A (p.Gly922Glu)
c.2579G>A (p.Gly860Glu)
n.3175G>A
c.2870G>A (p.Gly957Glu)
c.2936G>A (p.Gly979Glu)
c.2888G>A (p.Gly963Glu)
c.2753G>A (p.Gly918Glu)
c.2896-144G>A (n.2896-144G>A)
 gnomAD v4
16g.28835979G>CCA395408903ATXN2Lc.2942G>C (p.Gly981Ala)
c.917G>C (p.Gly306Ala)
n.3316G>C
c.137G>C (p.Gly46Ala)
c.2960G>C (p.Gly987Ala)
c.2006G>C (n.2006G>C)
c.211G>C
c.920G>C (p.Gly307Ala)
c.462G>C
c.2963G>C (p.Gly988Ala)
c.2945G>C (p.Gly982Ala)
c.2783G>C (p.Gly928Ala)
c.2891G>C (p.Gly964Ala)
c.2873G>C (p.Gly958Ala)
c.2597G>C (p.Gly866Ala)
n.3172G>C
c.2765G>C (p.Gly922Ala)
c.2579G>C (p.Gly860Ala)
n.3175G>C
c.2870G>C (p.Gly957Ala)
c.2936G>C (p.Gly979Ala)
c.2888G>C (p.Gly963Ala)
c.2753G>C (p.Gly918Ala)
c.2896-144G>C (n.2896-144G>C)
 gnomAD v4
16g.28835979G>TCA395408905ATXN2Lc.2942G>T (p.Gly981Val)
c.917G>T (p.Gly306Val)
n.3316G>T
c.137G>T (p.Gly46Val)
c.2960G>T (p.Gly987Val)
c.2006G>T (n.2006G>T)
c.211G>T
c.920G>T (p.Gly307Val)
c.462G>T
c.2963G>T (p.Gly988Val)
c.2945G>T (p.Gly982Val)
c.2783G>T (p.Gly928Val)
c.2891G>T (p.Gly964Val)
c.2873G>T (p.Gly958Val)
c.2597G>T (p.Gly866Val)
n.3172G>T
c.2765G>T (p.Gly922Val)
c.2579G>T (p.Gly860Val)
n.3175G>T
c.2870G>T (p.Gly957Val)
c.2936G>T (p.Gly979Val)
c.2888G>T (p.Gly963Val)
c.2753G>T (p.Gly918Val)
c.2896-144G>T (n.2896-144G>T)
16g.28835980G>ACA494868569ATXN2Lc.2943G>A (p.Gly981=)
c.918G>A (p.Gly306=)
n.3317G>A
c.138G>A (p.Gly46=)
c.2961G>A (p.Gly987=)
c.2007G>A (n.2007G>A)
c.212G>A
c.921G>A (p.Gly307=)
c.463G>A
c.2964G>A (p.Gly988=)
c.2946G>A (p.Gly982=)
c.2784G>A (p.Gly928=)
c.2892G>A (p.Gly964=)
c.2874G>A (p.Gly958=)
c.2598G>A (p.Gly866=)
n.3173G>A
c.2766G>A (p.Gly922=)
c.2580G>A (p.Gly860=)
n.3176G>A
c.2871G>A (p.Gly957=)
c.2937G>A (p.Gly979=)
c.2889G>A (p.Gly963=)
c.2754G>A (p.Gly918=)
c.2896-143G>A (n.2896-143G>A)
16g.28835980G>CCA494868571ATXN2Lc.2943G>C (p.Gly981=)
c.918G>C (p.Gly306=)
n.3317G>C
c.138G>C (p.Gly46=)
c.2961G>C (p.Gly987=)
c.2007G>C (n.2007G>C)
c.212G>C
c.921G>C (p.Gly307=)
c.463G>C
c.2964G>C (p.Gly988=)
c.2946G>C (p.Gly982=)
c.2784G>C (p.Gly928=)
c.2892G>C (p.Gly964=)
c.2874G>C (p.Gly958=)
c.2598G>C (p.Gly866=)
n.3173G>C
c.2766G>C (p.Gly922=)
c.2580G>C (p.Gly860=)
n.3176G>C
c.2871G>C (p.Gly957=)
c.2937G>C (p.Gly979=)
c.2889G>C (p.Gly963=)
c.2754G>C (p.Gly918=)
c.2896-143G>C (n.2896-143G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28835980G=CA2215806777ATXN2Lc.2943G= (p.Gly981=)
c.918G= (p.Gly306=)
n.3317G=
c.138G= (p.Gly46=)
c.2961G= (p.Gly987=)
c.2007G= (n.2007G=)
c.212G=
c.921G= (p.Gly307=)
c.463G=
c.2964G= (p.Gly988=)
c.2946G= (p.Gly982=)
c.2784G= (p.Gly928=)
c.2892G= (p.Gly964=)
c.2874G= (p.Gly958=)
c.2598G= (p.Gly866=)
n.3173G=
c.2766G= (p.Gly922=)
c.2580G= (p.Gly860=)
n.3176G=
c.2871G= (p.Gly957=)
c.2937G= (p.Gly979=)
c.2889G= (p.Gly963=)
c.2754G= (p.Gly918=)
c.2896-143G= (n.2896-143G=)
16g.28835980G>TCA494868573ATXN2Lc.2943G>T (p.Gly981=)
c.918G>T (p.Gly306=)
n.3317G>T
c.138G>T (p.Gly46=)
c.2961G>T (p.Gly987=)
c.2007G>T (n.2007G>T)
c.212G>T
c.921G>T (p.Gly307=)
c.463G>T
c.2964G>T (p.Gly988=)
c.2946G>T (p.Gly982=)
c.2784G>T (p.Gly928=)
c.2892G>T (p.Gly964=)
c.2874G>T (p.Gly958=)
c.2598G>T (p.Gly866=)
n.3173G>T
c.2766G>T (p.Gly922=)
c.2580G>T (p.Gly860=)
n.3176G>T
c.2871G>T (p.Gly957=)
c.2937G>T (p.Gly979=)
c.2889G>T (p.Gly963=)
c.2754G>T (p.Gly918=)
c.2896-143G>T (n.2896-143G>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835981G>ACA395408907ATXN2Lc.2944G>A (p.Ala982Thr)
c.919G>A (p.Ala307Thr)
n.3318G>A
c.139G>A (p.Ala47Thr)
c.2962G>A (p.Ala988Thr)
c.2008G>A (n.2008G>A)
c.213G>A
c.922G>A (p.Ala308Thr)
c.464G>A
c.2965G>A (p.Ala989Thr)
c.2947G>A (p.Ala983Thr)
c.2785G>A (p.Ala929Thr)
c.2893G>A (p.Ala965Thr)
c.2875G>A (p.Ala959Thr)
c.2599G>A (p.Ala867Thr)
n.3174G>A
c.2767G>A (p.Ala923Thr)
c.2581G>A (p.Ala861Thr)
n.3177G>A
c.2872G>A (p.Ala958Thr)
c.2938G>A (p.Ala980Thr)
c.2890G>A (p.Ala964Thr)
c.2755G>A (p.Ala919Thr)
c.2896-142G>A (n.2896-142G>A)
16g.28835981G>CCA395408909ATXN2Lc.2944G>C (p.Ala982Pro)
c.919G>C (p.Ala307Pro)
n.3318G>C
c.139G>C (p.Ala47Pro)
c.2962G>C (p.Ala988Pro)
c.2008G>C (n.2008G>C)
c.213G>C
c.922G>C (p.Ala308Pro)
c.464G>C
c.2965G>C (p.Ala989Pro)
c.2947G>C (p.Ala983Pro)
c.2785G>C (p.Ala929Pro)
c.2893G>C (p.Ala965Pro)
c.2875G>C (p.Ala959Pro)
c.2599G>C (p.Ala867Pro)
n.3174G>C
c.2767G>C (p.Ala923Pro)
c.2581G>C (p.Ala861Pro)
n.3177G>C
c.2872G>C (p.Ala958Pro)
c.2938G>C (p.Ala980Pro)
c.2890G>C (p.Ala964Pro)
c.2755G>C (p.Ala919Pro)
c.2896-142G>C (n.2896-142G>C)
16g.28835981G>TCA395408910ATXN2Lc.2944G>T (p.Ala982Ser)
c.919G>T (p.Ala307Ser)
n.3318G>T
c.139G>T (p.Ala47Ser)
c.2962G>T (p.Ala988Ser)
c.2008G>T (n.2008G>T)
c.213G>T
c.922G>T (p.Ala308Ser)
c.464G>T
c.2965G>T (p.Ala989Ser)
c.2947G>T (p.Ala983Ser)
c.2785G>T (p.Ala929Ser)
c.2893G>T (p.Ala965Ser)
c.2875G>T (p.Ala959Ser)
c.2599G>T (p.Ala867Ser)
n.3174G>T
c.2767G>T (p.Ala923Ser)
c.2581G>T (p.Ala861Ser)
n.3177G>T
c.2872G>T (p.Ala958Ser)
c.2938G>T (p.Ala980Ser)
c.2890G>T (p.Ala964Ser)
c.2755G>T (p.Ala919Ser)
c.2896-142G>T (n.2896-142G>T)
16g.28835982C>ACA395408913ATXN2Lc.2945C>A (p.Ala982Asp)
c.920C>A (p.Ala307Asp)
n.3319C>A
c.140C>A (p.Ala47Asp)
c.2963C>A (p.Ala988Asp)
c.2009C>A (n.2009C>A)
c.214C>A
c.923C>A (p.Ala308Asp)
c.465C>A
c.2966C>A (p.Ala989Asp)
c.2948C>A (p.Ala983Asp)
c.2786C>A (p.Ala929Asp)
c.2894C>A (p.Ala965Asp)
c.2876C>A (p.Ala959Asp)
c.2600C>A (p.Ala867Asp)
n.3175C>A
c.2768C>A (p.Ala923Asp)
c.2582C>A (p.Ala861Asp)
n.3178C>A
c.2873C>A (p.Ala958Asp)
c.2939C>A (p.Ala980Asp)
c.2891C>A (p.Ala964Asp)
c.2756C>A (p.Ala919Asp)
c.2896-141C>A (n.2896-141C>A)
16g.28835982C>GCA395408914ATXN2Lc.2945C>G (p.Ala982Gly)
c.920C>G (p.Ala307Gly)
n.3319C>G
c.140C>G (p.Ala47Gly)
c.2963C>G (p.Ala988Gly)
c.2009C>G (n.2009C>G)
c.214C>G
c.923C>G (p.Ala308Gly)
c.465C>G
c.2966C>G (p.Ala989Gly)
c.2948C>G (p.Ala983Gly)
c.2786C>G (p.Ala929Gly)
c.2894C>G (p.Ala965Gly)
c.2876C>G (p.Ala959Gly)
c.2600C>G (p.Ala867Gly)
n.3175C>G
c.2768C>G (p.Ala923Gly)
c.2582C>G (p.Ala861Gly)
n.3178C>G
c.2873C>G (p.Ala958Gly)
c.2939C>G (p.Ala980Gly)
c.2891C>G (p.Ala964Gly)
c.2756C>G (p.Ala919Gly)
c.2896-141C>G (n.2896-141C>G)
16g.28835982C>TCA395408916ATXN2Lc.2945C>T (p.Ala982Val)
c.920C>T (p.Ala307Val)
n.3319C>T
c.140C>T (p.Ala47Val)
c.2963C>T (p.Ala988Val)
c.2009C>T (n.2009C>T)
c.214C>T
c.923C>T (p.Ala308Val)
c.465C>T
c.2966C>T (p.Ala989Val)
c.2948C>T (p.Ala983Val)
c.2786C>T (p.Ala929Val)
c.2894C>T (p.Ala965Val)
c.2876C>T (p.Ala959Val)
c.2600C>T (p.Ala867Val)
n.3175C>T
c.2768C>T (p.Ala923Val)
c.2582C>T (p.Ala861Val)
n.3178C>T
c.2873C>T (p.Ala958Val)
c.2939C>T (p.Ala980Val)
c.2891C>T (p.Ala964Val)
c.2756C>T (p.Ala919Val)
c.2896-141C>T (n.2896-141C>T)
 gnomAD v4
16g.28835983T>ACA494868597ATXN2Lc.2946T>A (p.Ala982=)
c.921T>A (p.Ala307=)
n.3320T>A
c.141T>A (p.Ala47=)
c.2964T>A (p.Ala988=)
c.2010T>A (n.2010T>A)
c.215T>A
c.924T>A (p.Ala308=)
c.466T>A
c.2967T>A (p.Ala989=)
c.2949T>A (p.Ala983=)
c.2787T>A (p.Ala929=)
c.2895T>A (p.Ala965=)
c.2877T>A (p.Ala959=)
c.2601T>A (p.Ala867=)
n.3176T>A
c.2769T>A (p.Ala923=)
c.2583T>A (p.Ala861=)
n.3179T>A
c.2874T>A (p.Ala958=)
c.2940T>A (p.Ala980=)
c.2892T>A (p.Ala964=)
c.2757T>A (p.Ala919=)
c.2896-140T>A (n.2896-140T>A)
16g.28835983T>CCA494868598ATXN2Lc.2946T>C (p.Ala982=)
c.921T>C (p.Ala307=)
n.3320T>C
c.141T>C (p.Ala47=)
c.2964T>C (p.Ala988=)
c.2010T>C (n.2010T>C)
c.215T>C
c.924T>C (p.Ala308=)
c.466T>C
c.2967T>C (p.Ala989=)
c.2949T>C (p.Ala983=)
c.2787T>C (p.Ala929=)
c.2895T>C (p.Ala965=)
c.2877T>C (p.Ala959=)
c.2601T>C (p.Ala867=)
n.3176T>C
c.2769T>C (p.Ala923=)
c.2583T>C (p.Ala861=)
n.3179T>C
c.2874T>C (p.Ala958=)
c.2940T>C (p.Ala980=)
c.2892T>C (p.Ala964=)
c.2757T>C (p.Ala919=)
c.2896-140T>C (n.2896-140T>C)
16g.28835983T>GCA494868599ATXN2Lc.2946T>G (p.Ala982=)
c.921T>G (p.Ala307=)
n.3320T>G
c.141T>G (p.Ala47=)
c.2964T>G (p.Ala988=)
c.2010T>G (n.2010T>G)
c.215T>G
c.924T>G (p.Ala308=)
c.466T>G
c.2967T>G (p.Ala989=)
c.2949T>G (p.Ala983=)
c.2787T>G (p.Ala929=)
c.2895T>G (p.Ala965=)
c.2877T>G (p.Ala959=)
c.2601T>G (p.Ala867=)
n.3176T>G
c.2769T>G (p.Ala923=)
c.2583T>G (p.Ala861=)
n.3179T>G
c.2874T>G (p.Ala958=)
c.2940T>G (p.Ala980=)
c.2892T>G (p.Ala964=)
c.2757T>G (p.Ala919=)
c.2896-140T>G (n.2896-140T>G)
16g.28835983_28835984insACA2632529145ATXN2Lc.2946_2947insA (p.Pro983ThrfsTer?)
c.921_922insA (p.Pro308ThrfsTer?)
n.3320_3321insA
c.141_142insA (p.Pro48ThrfsTer?)
c.2964_2965insA (p.Pro989ThrfsTer?)
c.2010_2011insA (n.2010_2011insA)
c.215_216insA
c.924_925insA (p.Pro309ThrfsTer?)
c.466_467insA
c.2967_2968insA (p.Pro990ThrfsTer?)
c.2949_2950insA (p.Pro984ThrfsTer?)
c.2787_2788insA (p.Pro930ThrfsTer?)
c.2895_2896insA (p.Pro966ThrfsTer?)
c.2877_2878insA (p.Pro960ThrfsTer?)
c.2601_2602insA (p.Pro868ThrfsTer?)
n.3176_3177insA
c.2769_2770insA (p.Pro924ThrfsTer?)
c.2583_2584insA (p.Pro862ThrfsTer?)
n.3179_3180insA
c.2874_2875insA (p.Pro959ThrfsTer?)
c.2940_2941insA (p.Pro981ThrfsTer?)
c.2892_2893insA (p.Pro965ThrfsTer?)
c.2757_2758insA (p.Pro920ThrfsTer?)
c.2896-140_2896-139insA (n.2896-140_2896-139insA)
 gnomAD v4
16g.28835983_28835984insGCA2632529135ATXN2Lc.2946_2947insG (p.Pro983AlafsTer?)
c.921_922insG (p.Pro308AlafsTer?)
n.3320_3321insG
c.141_142insG (p.Pro48AlafsTer?)
c.2964_2965insG (p.Pro989AlafsTer?)
c.2010_2011insG (n.2010_2011insG)
c.215_216insG
c.924_925insG (p.Pro309AlafsTer?)
c.466_467insG
c.2967_2968insG (p.Pro990AlafsTer?)
c.2949_2950insG (p.Pro984AlafsTer?)
c.2787_2788insG (p.Pro930AlafsTer?)
c.2895_2896insG (p.Pro966AlafsTer?)
c.2877_2878insG (p.Pro960AlafsTer?)
c.2601_2602insG (p.Pro868AlafsTer?)
n.3176_3177insG
c.2769_2770insG (p.Pro924AlafsTer?)
c.2583_2584insG (p.Pro862AlafsTer?)
n.3179_3180insG
c.2874_2875insG (p.Pro959AlafsTer?)
c.2940_2941insG (p.Pro981AlafsTer?)
c.2892_2893insG (p.Pro965AlafsTer?)
c.2757_2758insG (p.Pro920AlafsTer?)
c.2896-140_2896-139insG (n.2896-140_2896-139insG)
 gnomAD v4
16g.28835983_28835984insACCA2632529142ATXN2Lc.2946_2947insAC (p.Pro983ThrfsTer7)
c.921_922insAC (p.Pro308ThrfsTer7)
n.3320_3321insAC
c.141_142insAC (p.Pro48ThrfsTer7)
c.2964_2965insAC (p.Pro989ThrfsTer7)
c.2010_2011insAC (n.2010_2011insAC)
c.215_216insAC
c.924_925insAC (p.Pro309ThrfsTer7)
c.466_467insAC
c.2967_2968insAC (p.Pro990ThrfsTer7)
c.2949_2950insAC (p.Pro984ThrfsTer7)
c.2787_2788insAC (p.Pro930ThrfsTer7)
c.2895_2896insAC (p.Pro966ThrfsTer7)
c.2877_2878insAC (p.Pro960ThrfsTer7)
c.2601_2602insAC (p.Pro868ThrfsTer7)
n.3176_3177insAC
c.2769_2770insAC (p.Pro924ThrfsTer7)
c.2583_2584insAC (p.Pro862ThrfsTer7)
n.3179_3180insAC
c.2874_2875insAC (p.Pro959ThrfsTer7)
c.2940_2941insAC (p.Pro981ThrfsTer7)
c.2892_2893insAC (p.Pro965ThrfsTer7)
c.2757_2758insAC (p.Pro920ThrfsTer7)
c.2896-140_2896-139insAC (n.2896-140_2896-139insAC)
 gnomAD v4
16g.28835983_28835984insGCCA2573105949ATXN2Lc.2946_2947insGC (p.Pro983AlafsTer7)
c.921_922insGC (p.Pro308AlafsTer7)
n.3320_3321insGC
c.141_142insGC (p.Pro48AlafsTer7)
c.2964_2965insGC (p.Pro989AlafsTer7)
c.2010_2011insGC (n.2010_2011insGC)
c.215_216insGC
c.924_925insGC (p.Pro309AlafsTer7)
c.466_467insGC
c.2967_2968insGC (p.Pro990AlafsTer7)
c.2949_2950insGC (p.Pro984AlafsTer7)
c.2787_2788insGC (p.Pro930AlafsTer7)
c.2895_2896insGC (p.Pro966AlafsTer7)
c.2877_2878insGC (p.Pro960AlafsTer7)
c.2601_2602insGC (p.Pro868AlafsTer7)
n.3176_3177insGC
c.2769_2770insGC (p.Pro924AlafsTer7)
c.2583_2584insGC (p.Pro862AlafsTer7)
n.3179_3180insGC
c.2874_2875insGC (p.Pro959AlafsTer7)
c.2940_2941insGC (p.Pro981AlafsTer7)
c.2892_2893insGC (p.Pro965AlafsTer7)
c.2757_2758insGC (p.Pro920AlafsTer7)
c.2896-140_2896-139insGC (n.2896-140_2896-139insGC)
 gnomAD v4
16g.28835983_28835984insACCCA2632529141ATXN2Lc.2946_2947insACC (p.Ala982_Pro983insThr)
c.921_922insACC (p.Ala307_Pro308insThr)
n.3320_3321insACC
c.141_142insACC (p.Ala47_Pro48insThr)
c.2964_2965insACC (p.Ala988_Pro989insThr)
c.2010_2011insACC (n.2010_2011insACC)
c.215_216insACC
c.924_925insACC (p.Ala308_Pro309insThr)
c.466_467insACC
c.2967_2968insACC (p.Ala989_Pro990insThr)
c.2949_2950insACC (p.Ala983_Pro984insThr)
c.2787_2788insACC (p.Ala929_Pro930insThr)
c.2895_2896insACC (p.Ala965_Pro966insThr)
c.2877_2878insACC (p.Ala959_Pro960insThr)
c.2601_2602insACC (p.Ala867_Pro868insThr)
n.3176_3177insACC
c.2769_2770insACC (p.Ala923_Pro924insThr)
c.2583_2584insACC (p.Ala861_Pro862insThr)
n.3179_3180insACC
c.2874_2875insACC (p.Ala958_Pro959insThr)
c.2940_2941insACC (p.Ala980_Pro981insThr)
c.2892_2893insACC (p.Ala964_Pro965insThr)
c.2757_2758insACC (p.Ala919_Pro920insThr)
c.2896-140_2896-139insACC (n.2896-140_2896-139insACC)
 gnomAD v4
16g.28835983_28835984insGCCCA1298200831ATXN2Lc.2946_2947insGCC (p.Ala982_Pro983insAla)
c.921_922insGCC (p.Ala307_Pro308insAla)
n.3320_3321insGCC
c.141_142insGCC (p.Ala47_Pro48insAla)
c.2964_2965insGCC (p.Ala988_Pro989insAla)
c.2010_2011insGCC (n.2010_2011insGCC)
c.215_216insGCC
c.924_925insGCC (p.Ala308_Pro309insAla)
c.466_467insGCC
c.2967_2968insGCC (p.Ala989_Pro990insAla)
c.2949_2950insGCC (p.Ala983_Pro984insAla)
c.2787_2788insGCC (p.Ala929_Pro930insAla)
c.2895_2896insGCC (p.Ala965_Pro966insAla)
c.2877_2878insGCC (p.Ala959_Pro960insAla)
c.2601_2602insGCC (p.Ala867_Pro868insAla)
n.3176_3177insGCC
c.2769_2770insGCC (p.Ala923_Pro924insAla)
c.2583_2584insGCC (p.Ala861_Pro862insAla)
n.3179_3180insGCC
c.2874_2875insGCC (p.Ala958_Pro959insAla)
c.2940_2941insGCC (p.Ala980_Pro981insAla)
c.2892_2893insGCC (p.Ala964_Pro965insAla)
c.2757_2758insGCC (p.Ala919_Pro920insAla)
c.2896-140_2896-139insGCC (n.2896-140_2896-139insGCC)
 gnomAD v4
16g.28835983_28835984insGCCCCA1139770161ATXN2Lc.2946_2947insGCCC (p.Pro983AlafsTer?)
c.921_922insGCCC (p.Pro308AlafsTer?)
n.3320_3321insGCCC
c.141_142insGCCC (p.Pro48AlafsTer?)
c.2964_2965insGCCC (p.Pro989AlafsTer?)
c.2010_2011insGCCC (n.2010_2011insGCCC)
c.215_216insGCCC
c.924_925insGCCC (p.Pro309AlafsTer?)
c.466_467insGCCC
c.2967_2968insGCCC (p.Pro990AlafsTer?)
c.2949_2950insGCCC (p.Pro984AlafsTer?)
c.2787_2788insGCCC (p.Pro930AlafsTer?)
c.2895_2896insGCCC (p.Pro966AlafsTer?)
c.2877_2878insGCCC (p.Pro960AlafsTer?)
c.2601_2602insGCCC (p.Pro868AlafsTer?)
n.3176_3177insGCCC
c.2769_2770insGCCC (p.Pro924AlafsTer?)
c.2583_2584insGCCC (p.Pro862AlafsTer?)
n.3179_3180insGCCC
c.2874_2875insGCCC (p.Pro959AlafsTer?)
c.2940_2941insGCCC (p.Pro981AlafsTer?)
c.2892_2893insGCCC (p.Pro965AlafsTer?)
c.2757_2758insGCCC (p.Pro920AlafsTer?)
c.2896-140_2896-139insGCCC (n.2896-140_2896-139insGCCC)
16g.28835984C>ACA7985145ATXN2Lc.2947C>A (p.Pro983Thr)
c.922C>A (p.Pro308Thr)
n.3321C>A
c.142C>A (p.Pro48Thr)
c.2965C>A (p.Pro989Thr)
c.2011C>A (n.2011C>A)
c.216C>A
c.925C>A (p.Pro309Thr)
c.467C>A
c.2968C>A (p.Pro990Thr)
c.2950C>A (p.Pro984Thr)
c.2788C>A (p.Pro930Thr)
c.2896C>A (p.Pro966Thr)
c.2878C>A (p.Pro960Thr)
c.2602C>A (p.Pro868Thr)
n.3177C>A
c.2770C>A (p.Pro924Thr)
c.2584C>A (p.Pro862Thr)
n.3180C>A
c.2875C>A (p.Pro959Thr)
c.2941C>A (p.Pro981Thr)
c.2893C>A (p.Pro965Thr)
c.2758C>A (p.Pro920Thr)
c.2896-139C>A (n.2896-139C>A)
 dbSNP ExAC gnomAD v4
16g.28835984C=CA2215806779ATXN2Lc.2947C= (p.Pro983=)
c.922C= (p.Pro308=)
n.3321C=
c.142C= (p.Pro48=)
c.2965C= (p.Pro989=)
c.2011C= (n.2011C=)
c.216C=
c.925C= (p.Pro309=)
c.467C=
c.2968C= (p.Pro990=)
c.2950C= (p.Pro984=)
c.2788C= (p.Pro930=)
c.2896C= (p.Pro966=)
c.2878C= (p.Pro960=)
c.2602C= (p.Pro868=)
n.3177C=
c.2770C= (p.Pro924=)
c.2584C= (p.Pro862=)
n.3180C=
c.2875C= (p.Pro959=)
c.2941C= (p.Pro981=)
c.2893C= (p.Pro965=)
c.2758C= (p.Pro920=)
c.2896-139C= (n.2896-139C=)
16g.28835984C>GCA395408919ATXN2Lc.2947C>G (p.Pro983Ala)
c.922C>G (p.Pro308Ala)
n.3321C>G
c.142C>G (p.Pro48Ala)
c.2965C>G (p.Pro989Ala)
c.2011C>G (n.2011C>G)
c.216C>G
c.925C>G (p.Pro309Ala)
c.467C>G
c.2968C>G (p.Pro990Ala)
c.2950C>G (p.Pro984Ala)
c.2788C>G (p.Pro930Ala)
c.2896C>G (p.Pro966Ala)
c.2878C>G (p.Pro960Ala)
c.2602C>G (p.Pro868Ala)
n.3177C>G
c.2770C>G (p.Pro924Ala)
c.2584C>G (p.Pro862Ala)
n.3180C>G
c.2875C>G (p.Pro959Ala)
c.2941C>G (p.Pro981Ala)
c.2893C>G (p.Pro965Ala)
c.2758C>G (p.Pro920Ala)
c.2896-139C>G (n.2896-139C>G)
 gnomAD v4
16g.28835984C>TCA395408921ATXN2Lc.2947C>T (p.Pro983Ser)
c.922C>T (p.Pro308Ser)
n.3321C>T
c.142C>T (p.Pro48Ser)
c.2965C>T (p.Pro989Ser)
c.2011C>T (n.2011C>T)
c.216C>T
c.925C>T (p.Pro309Ser)
c.467C>T
c.2968C>T (p.Pro990Ser)
c.2950C>T (p.Pro984Ser)
c.2788C>T (p.Pro930Ser)
c.2896C>T (p.Pro966Ser)
c.2878C>T (p.Pro960Ser)
c.2602C>T (p.Pro868Ser)
n.3177C>T
c.2770C>T (p.Pro924Ser)
c.2584C>T (p.Pro862Ser)
n.3180C>T
c.2875C>T (p.Pro959Ser)
c.2941C>T (p.Pro981Ser)
c.2893C>T (p.Pro965Ser)
c.2758C>T (p.Pro920Ser)
c.2896-139C>T (n.2896-139C>T)
 COSMIC COSMIC COSMIC COSMIC
16g.28835987dupCA2632529140ATXN2Lc.2950dup (p.His984ProfsTer?)
c.925dup (p.His309ProfsTer?)
n.3324dup
c.145dup (p.His49ProfsTer?)
c.2968dup (p.His990ProfsTer?)
c.2014dup (n.2014dup)
c.219dup
c.928dup (p.His310ProfsTer?)
c.470dup
c.2971dup (p.His991ProfsTer?)
c.2953dup (p.His985ProfsTer?)
c.2791dup (p.His931ProfsTer?)
c.2899dup (p.His967ProfsTer?)
c.2881dup (p.His961ProfsTer?)
c.2605dup (p.His869ProfsTer?)
n.3180dup
c.2773dup (p.His925ProfsTer?)
c.2587dup (p.His863ProfsTer?)
n.3183dup
c.2878dup (p.His960ProfsTer?)
c.2944dup (p.His982ProfsTer?)
c.2896dup (p.His966ProfsTer?)
c.2761dup (p.His921ProfsTer?)
c.2896-136dup (n.2896-136dup)
 gnomAD v4
16g.28835986_28835987dupCA2632529139ATXN2Lc.2949_2950dup (p.His984ProfsTer6)
c.924_925dup (p.His309ProfsTer6)
n.3323_3324dup
c.144_145dup (p.His49ProfsTer6)
c.2967_2968dup (p.His990ProfsTer6)
c.2013_2014dup (n.2013_2014dup)
c.218_219dup
c.927_928dup (p.His310ProfsTer6)
c.469_470dup
c.2970_2971dup (p.His991ProfsTer6)
c.2952_2953dup (p.His985ProfsTer6)
c.2790_2791dup (p.His931ProfsTer6)
c.2898_2899dup (p.His967ProfsTer6)
c.2880_2881dup (p.His961ProfsTer6)
c.2604_2605dup (p.His869ProfsTer6)
n.3179_3180dup
c.2772_2773dup (p.His925ProfsTer6)
c.2586_2587dup (p.His863ProfsTer6)
n.3182_3183dup
c.2877_2878dup (p.His960ProfsTer6)
c.2943_2944dup (p.His982ProfsTer6)
c.2895_2896dup (p.His966ProfsTer6)
c.2760_2761dup (p.His921ProfsTer6)
c.2896-137_2896-136dup (n.2896-137_2896-136dup)
 gnomAD v4
16g.28835985_28835987dupCA2632529134ATXN2Lc.2948_2950dup (p.Pro983_His984insPro)
c.923_925dup (p.Pro308_His309insPro)
n.3322_3324dup
c.143_145dup (p.Pro48_His49insPro)
c.2966_2968dup (p.Pro989_His990insPro)
c.2012_2014dup (n.2012_2014dup)
c.217_219dup
c.926_928dup (p.Pro309_His310insPro)
c.468_470dup
c.2969_2971dup (p.Pro990_His991insPro)
c.2951_2953dup (p.Pro984_His985insPro)
c.2789_2791dup (p.Pro930_His931insPro)
c.2897_2899dup (p.Pro966_His967insPro)
c.2879_2881dup (p.Pro960_His961insPro)
c.2603_2605dup (p.Pro868_His869insPro)
n.3178_3180dup
c.2771_2773dup (p.Pro924_His925insPro)
c.2585_2587dup (p.Pro862_His863insPro)
n.3181_3183dup
c.2876_2878dup (p.Pro959_His960insPro)
c.2942_2944dup (p.Pro981_His982insPro)
c.2894_2896dup (p.Pro965_His966insPro)
c.2759_2761dup (p.Pro920_His921insPro)
c.2896-138_2896-136dup (n.2896-138_2896-136dup)
 gnomAD v4
16g.28835985C>ACA395408923ATXN2Lc.2948C>A (p.Pro983His)
c.923C>A (p.Pro308His)
n.3322C>A
c.143C>A (p.Pro48His)
c.2966C>A (p.Pro989His)
c.2012C>A (n.2012C>A)
c.217C>A
c.926C>A (p.Pro309His)
c.468C>A
c.2969C>A (p.Pro990His)
c.2951C>A (p.Pro984His)
c.2789C>A (p.Pro930His)
c.2897C>A (p.Pro966His)
c.2879C>A (p.Pro960His)
c.2603C>A (p.Pro868His)
n.3178C>A
c.2771C>A (p.Pro924His)
c.2585C>A (p.Pro862His)
n.3181C>A
c.2876C>A (p.Pro959His)
c.2942C>A (p.Pro981His)
c.2894C>A (p.Pro965His)
c.2759C>A (p.Pro920His)
c.2896-138C>A (n.2896-138C>A)
16g.28835985C>GCA395408927ATXN2Lc.2948C>G (p.Pro983Arg)
c.923C>G (p.Pro308Arg)
n.3322C>G
c.143C>G (p.Pro48Arg)
c.2966C>G (p.Pro989Arg)
c.2012C>G (n.2012C>G)
c.217C>G
c.926C>G (p.Pro309Arg)
c.468C>G
c.2969C>G (p.Pro990Arg)
c.2951C>G (p.Pro984Arg)
c.2789C>G (p.Pro930Arg)
c.2897C>G (p.Pro966Arg)
c.2879C>G (p.Pro960Arg)
c.2603C>G (p.Pro868Arg)
n.3178C>G
c.2771C>G (p.Pro924Arg)
c.2585C>G (p.Pro862Arg)
n.3181C>G
c.2876C>G (p.Pro959Arg)
c.2942C>G (p.Pro981Arg)
c.2894C>G (p.Pro965Arg)
c.2759C>G (p.Pro920Arg)
c.2896-138C>G (n.2896-138C>G)
16g.28835985C>TCA395408925ATXN2Lc.2948C>T (p.Pro983Leu)
c.923C>T (p.Pro308Leu)
n.3322C>T
c.143C>T (p.Pro48Leu)
c.2966C>T (p.Pro989Leu)
c.2012C>T (n.2012C>T)
c.217C>T
c.926C>T (p.Pro309Leu)
c.468C>T
c.2969C>T (p.Pro990Leu)
c.2951C>T (p.Pro984Leu)
c.2789C>T (p.Pro930Leu)
c.2897C>T (p.Pro966Leu)
c.2879C>T (p.Pro960Leu)
c.2603C>T (p.Pro868Leu)
n.3178C>T
c.2771C>T (p.Pro924Leu)
c.2585C>T (p.Pro862Leu)
n.3181C>T
c.2876C>T (p.Pro959Leu)
c.2942C>T (p.Pro981Leu)
c.2894C>T (p.Pro965Leu)
c.2759C>T (p.Pro920Leu)
c.2896-138C>T (n.2896-138C>T)
16g.28835986C>ACA494868615ATXN2Lc.2949C>A (p.Pro983=)
c.924C>A (p.Pro308=)
n.3323C>A
c.144C>A (p.Pro48=)
c.2967C>A (p.Pro989=)
c.2013C>A (n.2013C>A)
c.218C>A
c.927C>A (p.Pro309=)
c.469C>A
c.2970C>A (p.Pro990=)
c.2952C>A (p.Pro984=)
c.2790C>A (p.Pro930=)
c.2898C>A (p.Pro966=)
c.2880C>A (p.Pro960=)
c.2604C>A (p.Pro868=)
n.3179C>A
c.2772C>A (p.Pro924=)
c.2586C>A (p.Pro862=)
n.3182C>A
c.2877C>A (p.Pro959=)
c.2943C>A (p.Pro981=)
c.2895C>A (p.Pro965=)
c.2760C>A (p.Pro920=)
c.2896-137C>A (n.2896-137C>A)
16g.28835986C=CA2215806782ATXN2Lc.2949C= (p.Pro983=)
c.924C= (p.Pro308=)
n.3323C=
c.144C= (p.Pro48=)
c.2967C= (p.Pro989=)
c.2013C= (n.2013C=)
c.218C=
c.927C= (p.Pro309=)
c.469C=
c.2970C= (p.Pro990=)
c.2952C= (p.Pro984=)
c.2790C= (p.Pro930=)
c.2898C= (p.Pro966=)
c.2880C= (p.Pro960=)
c.2604C= (p.Pro868=)
n.3179C=
c.2772C= (p.Pro924=)
c.2586C= (p.Pro862=)
n.3182C=
c.2877C= (p.Pro959=)
c.2943C= (p.Pro981=)
c.2895C= (p.Pro965=)
c.2760C= (p.Pro920=)
c.2896-137C= (n.2896-137C=)
16g.28835986C>GCA494868616ATXN2Lc.2949C>G (p.Pro983=)
c.924C>G (p.Pro308=)
n.3323C>G
c.144C>G (p.Pro48=)
c.2967C>G (p.Pro989=)
c.2013C>G (n.2013C>G)
c.218C>G
c.927C>G (p.Pro309=)
c.469C>G
c.2970C>G (p.Pro990=)
c.2952C>G (p.Pro984=)
c.2790C>G (p.Pro930=)
c.2898C>G (p.Pro966=)
c.2880C>G (p.Pro960=)
c.2604C>G (p.Pro868=)
n.3179C>G
c.2772C>G (p.Pro924=)
c.2586C>G (p.Pro862=)
n.3182C>G
c.2877C>G (p.Pro959=)
c.2943C>G (p.Pro981=)
c.2895C>G (p.Pro965=)
c.2760C>G (p.Pro920=)
c.2896-137C>G (n.2896-137C>G)
16g.28835986C>TCA279230887ATXN2Lc.2949C>T (p.Pro983=)
c.924C>T (p.Pro308=)
n.3323C>T
c.144C>T (p.Pro48=)
c.2967C>T (p.Pro989=)
c.2013C>T (n.2013C>T)
c.218C>T
c.927C>T (p.Pro309=)
c.469C>T
c.2970C>T (p.Pro990=)
c.2952C>T (p.Pro984=)
c.2790C>T (p.Pro930=)
c.2898C>T (p.Pro966=)
c.2880C>T (p.Pro960=)
c.2604C>T (p.Pro868=)
n.3179C>T
c.2772C>T (p.Pro924=)
c.2586C>T (p.Pro862=)
n.3182C>T
c.2877C>T (p.Pro959=)
c.2943C>T (p.Pro981=)
c.2895C>T (p.Pro965=)
c.2760C>T (p.Pro920=)
c.2896-137C>T (n.2896-137C>T)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835987C>ACA395408929ATXN2Lc.2950C>A (p.His984Asn)
c.925C>A (p.His309Asn)
n.3324C>A
c.145C>A (p.His49Asn)
c.2968C>A (p.His990Asn)
c.2014C>A (n.2014C>A)
c.219C>A
c.928C>A (p.His310Asn)
c.470C>A
c.2971C>A (p.His991Asn)
c.2953C>A (p.His985Asn)
c.2791C>A (p.His931Asn)
c.2899C>A (p.His967Asn)
c.2881C>A (p.His961Asn)
c.2605C>A (p.His869Asn)
n.3180C>A
c.2773C>A (p.His925Asn)
c.2587C>A (p.His863Asn)
n.3183C>A
c.2878C>A (p.His960Asn)
c.2944C>A (p.His982Asn)
c.2896C>A (p.His966Asn)
c.2761C>A (p.His921Asn)
c.2896-136C>A (n.2896-136C>A)
16g.28835987C>GCA395408931ATXN2Lc.2950C>G (p.His984Asp)
c.925C>G (p.His309Asp)
n.3324C>G
c.145C>G (p.His49Asp)
c.2968C>G (p.His990Asp)
c.2014C>G (n.2014C>G)
c.219C>G
c.928C>G (p.His310Asp)
c.470C>G
c.2971C>G (p.His991Asp)
c.2953C>G (p.His985Asp)
c.2791C>G (p.His931Asp)
c.2899C>G (p.His967Asp)
c.2881C>G (p.His961Asp)
c.2605C>G (p.His869Asp)
n.3180C>G
c.2773C>G (p.His925Asp)
c.2587C>G (p.His863Asp)
n.3183C>G
c.2878C>G (p.His960Asp)
c.2944C>G (p.His982Asp)
c.2896C>G (p.His966Asp)
c.2761C>G (p.His921Asp)
c.2896-136C>G (n.2896-136C>G)
16g.28835987C>TCA395408932ATXN2Lc.2950C>T (p.His984Tyr)
c.925C>T (p.His309Tyr)
n.3324C>T
c.145C>T (p.His49Tyr)
c.2968C>T (p.His990Tyr)
c.2014C>T (n.2014C>T)
c.219C>T
c.928C>T (p.His310Tyr)
c.470C>T
c.2971C>T (p.His991Tyr)
c.2953C>T (p.His985Tyr)
c.2791C>T (p.His931Tyr)
c.2899C>T (p.His967Tyr)
c.2881C>T (p.His961Tyr)
c.2605C>T (p.His869Tyr)
n.3180C>T
c.2773C>T (p.His925Tyr)
c.2587C>T (p.His863Tyr)
n.3183C>T
c.2878C>T (p.His960Tyr)
c.2944C>T (p.His982Tyr)
c.2896C>T (p.His966Tyr)
c.2761C>T (p.His921Tyr)
c.2896-136C>T (n.2896-136C>T)
16g.28835988A=CA2215806785ATXN2Lc.2951A= (p.His984=)
c.926A= (p.His309=)
n.3325A=
c.146A= (p.His49=)
c.2969A= (p.His990=)
c.2015A= (n.2015A=)
c.220A=
c.929A= (p.His310=)
c.471A=
c.2972A= (p.His991=)
c.2954A= (p.His985=)
c.2792A= (p.His931=)
c.2900A= (p.His967=)
c.2882A= (p.His961=)
c.2606A= (p.His869=)
n.3181A=
c.2774A= (p.His925=)
c.2588A= (p.His863=)
n.3184A=
c.2879A= (p.His960=)
c.2945A= (p.His982=)
c.2897A= (p.His966=)
c.2762A= (p.His921=)
c.2896-135A= (n.2896-135A=)
16g.28835988A>CCA7985146ATXN2Lc.2951A>C (p.His984Pro)
c.926A>C (p.His309Pro)
n.3325A>C
c.146A>C (p.His49Pro)
c.2969A>C (p.His990Pro)
c.2015A>C (n.2015A>C)
c.220A>C
c.929A>C (p.His310Pro)
c.471A>C
c.2972A>C (p.His991Pro)
c.2954A>C (p.His985Pro)
c.2792A>C (p.His931Pro)
c.2900A>C (p.His967Pro)
c.2882A>C (p.His961Pro)
c.2606A>C (p.His869Pro)
n.3181A>C
c.2774A>C (p.His925Pro)
c.2588A>C (p.His863Pro)
n.3184A>C
c.2879A>C (p.His960Pro)
c.2945A>C (p.His982Pro)
c.2897A>C (p.His966Pro)
c.2762A>C (p.His921Pro)
c.2896-135A>C (n.2896-135A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835988A>GCA395408934ATXN2Lc.2951A>G (p.His984Arg)
c.926A>G (p.His309Arg)
n.3325A>G
c.146A>G (p.His49Arg)
c.2969A>G (p.His990Arg)
c.2015A>G (n.2015A>G)
c.220A>G
c.929A>G (p.His310Arg)
c.471A>G
c.2972A>G (p.His991Arg)
c.2954A>G (p.His985Arg)
c.2792A>G (p.His931Arg)
c.2900A>G (p.His967Arg)
c.2882A>G (p.His961Arg)
c.2606A>G (p.His869Arg)
n.3181A>G
c.2774A>G (p.His925Arg)
c.2588A>G (p.His863Arg)
n.3184A>G
c.2879A>G (p.His960Arg)
c.2945A>G (p.His982Arg)
c.2897A>G (p.His966Arg)
c.2762A>G (p.His921Arg)
c.2896-135A>G (n.2896-135A>G)
16g.28835988A>TCA395408935ATXN2Lc.2951A>T (p.His984Leu)
c.926A>T (p.His309Leu)
n.3325A>T
c.146A>T (p.His49Leu)
c.2969A>T (p.His990Leu)
c.2015A>T (n.2015A>T)
c.220A>T
c.929A>T (p.His310Leu)
c.471A>T
c.2972A>T (p.His991Leu)
c.2954A>T (p.His985Leu)
c.2792A>T (p.His931Leu)
c.2900A>T (p.His967Leu)
c.2882A>T (p.His961Leu)
c.2606A>T (p.His869Leu)
n.3181A>T
c.2774A>T (p.His925Leu)
c.2588A>T (p.His863Leu)
n.3184A>T
c.2879A>T (p.His960Leu)
c.2945A>T (p.His982Leu)
c.2897A>T (p.His966Leu)
c.2762A>T (p.His921Leu)
c.2896-135A>T (n.2896-135A>T)
16g.28835989C>ACA395408937ATXN2Lc.2952C>A (p.His984Gln)
c.927C>A (p.His309Gln)
n.3326C>A
c.147C>A (p.His49Gln)
c.2970C>A (p.His990Gln)
c.2016C>A (n.2016C>A)
c.221C>A
c.930C>A (p.His310Gln)
c.472C>A
c.2973C>A (p.His991Gln)
c.2955C>A (p.His985Gln)
c.2793C>A (p.His931Gln)
c.2901C>A (p.His967Gln)
c.2883C>A (p.His961Gln)
c.2607C>A (p.His869Gln)
n.3182C>A
c.2775C>A (p.His925Gln)
c.2589C>A (p.His863Gln)
n.3185C>A
c.2880C>A (p.His960Gln)
c.2946C>A (p.His982Gln)
c.2898C>A (p.His966Gln)
c.2763C>A (p.His921Gln)
c.2896-134C>A (n.2896-134C>A)
 gnomAD v4
16g.28835989C>GCA395408939ATXN2Lc.2952C>G (p.His984Gln)
c.927C>G (p.His309Gln)
n.3326C>G
c.147C>G (p.His49Gln)
c.2970C>G (p.His990Gln)
c.2016C>G (n.2016C>G)
c.221C>G
c.930C>G (p.His310Gln)
c.472C>G
c.2973C>G (p.His991Gln)
c.2955C>G (p.His985Gln)
c.2793C>G (p.His931Gln)
c.2901C>G (p.His967Gln)
c.2883C>G (p.His961Gln)
c.2607C>G (p.His869Gln)
n.3182C>G
c.2775C>G (p.His925Gln)
c.2589C>G (p.His863Gln)
n.3185C>G
c.2880C>G (p.His960Gln)
c.2946C>G (p.His982Gln)
c.2898C>G (p.His966Gln)
c.2763C>G (p.His921Gln)
c.2896-134C>G (n.2896-134C>G)
16g.28835989C>TCA494868649ATXN2Lc.2952C>T (p.His984=)
c.927C>T (p.His309=)
n.3326C>T
c.147C>T (p.His49=)
c.2970C>T (p.His990=)
c.2016C>T (n.2016C>T)
c.221C>T
c.930C>T (p.His310=)
c.472C>T
c.2973C>T (p.His991=)
c.2955C>T (p.His985=)
c.2793C>T (p.His931=)
c.2901C>T (p.His967=)
c.2883C>T (p.His961=)
c.2607C>T (p.His869=)
n.3182C>T
c.2775C>T (p.His925=)
c.2589C>T (p.His863=)
n.3185C>T
c.2880C>T (p.His960=)
c.2946C>T (p.His982=)
c.2898C>T (p.His966=)
c.2763C>T (p.His921=)
c.2896-134C>T (n.2896-134C>T)
 gnomAD v4
16g.28835990C>ACA395408941ATXN2Lc.2953C>A (p.Pro985Thr)
c.928C>A (p.Pro310Thr)
n.3327C>A
c.148C>A (p.Pro50Thr)
c.2971C>A (p.Pro991Thr)
c.2017C>A (n.2017C>A)
c.222C>A
c.931C>A (p.Pro311Thr)
c.473C>A
c.2974C>A (p.Pro992Thr)
c.2956C>A (p.Pro986Thr)
c.2794C>A (p.Pro932Thr)
c.2902C>A (p.Pro968Thr)
c.2884C>A (p.Pro962Thr)
c.2608C>A (p.Pro870Thr)
n.3183C>A
c.2776C>A (p.Pro926Thr)
c.2590C>A (p.Pro864Thr)
n.3186C>A
c.2881C>A (p.Pro961Thr)
c.2947C>A (p.Pro983Thr)
c.2899C>A (p.Pro967Thr)
c.2764C>A (p.Pro922Thr)
c.2896-133C>A (n.2896-133C>A)
16g.28835990C>GCA395408942ATXN2Lc.2953C>G (p.Pro985Ala)
c.928C>G (p.Pro310Ala)
n.3327C>G
c.148C>G (p.Pro50Ala)
c.2971C>G (p.Pro991Ala)
c.2017C>G (n.2017C>G)
c.222C>G
c.931C>G (p.Pro311Ala)
c.473C>G
c.2974C>G (p.Pro992Ala)
c.2956C>G (p.Pro986Ala)
c.2794C>G (p.Pro932Ala)
c.2902C>G (p.Pro968Ala)
c.2884C>G (p.Pro962Ala)
c.2608C>G (p.Pro870Ala)
n.3183C>G
c.2776C>G (p.Pro926Ala)
c.2590C>G (p.Pro864Ala)
n.3186C>G
c.2881C>G (p.Pro961Ala)
c.2947C>G (p.Pro983Ala)
c.2899C>G (p.Pro967Ala)
c.2764C>G (p.Pro922Ala)
c.2896-133C>G (n.2896-133C>G)
16g.28835990C>TCA395408944ATXN2Lc.2953C>T (p.Pro985Ser)
c.928C>T (p.Pro310Ser)
n.3327C>T
c.148C>T (p.Pro50Ser)
c.2971C>T (p.Pro991Ser)
c.2017C>T (n.2017C>T)
c.222C>T
c.931C>T (p.Pro311Ser)
c.473C>T
c.2974C>T (p.Pro992Ser)
c.2956C>T (p.Pro986Ser)
c.2794C>T (p.Pro932Ser)
c.2902C>T (p.Pro968Ser)
c.2884C>T (p.Pro962Ser)
c.2608C>T (p.Pro870Ser)
n.3183C>T
c.2776C>T (p.Pro926Ser)
c.2590C>T (p.Pro864Ser)
n.3186C>T
c.2881C>T (p.Pro961Ser)
c.2947C>T (p.Pro983Ser)
c.2899C>T (p.Pro967Ser)
c.2764C>T (p.Pro922Ser)
c.2896-133C>T (n.2896-133C>T)
 gnomAD v4
16g.28835991C>ACA395408946ATXN2Lc.2954C>A (p.Pro985Gln)
c.929C>A (p.Pro310Gln)
n.3328C>A
c.149C>A (p.Pro50Gln)
c.2972C>A (p.Pro991Gln)
c.2018C>A (n.2018C>A)
c.223C>A
c.932C>A (p.Pro311Gln)
c.474C>A
c.2975C>A (p.Pro992Gln)
c.2957C>A (p.Pro986Gln)
c.2795C>A (p.Pro932Gln)
c.2903C>A (p.Pro968Gln)
c.2885C>A (p.Pro962Gln)
c.2609C>A (p.Pro870Gln)
n.3184C>A
c.2777C>A (p.Pro926Gln)
c.2591C>A (p.Pro864Gln)
n.3187C>A
c.2882C>A (p.Pro961Gln)
c.2948C>A (p.Pro983Gln)
c.2900C>A (p.Pro967Gln)
c.2765C>A (p.Pro922Gln)
c.2896-132C>A (n.2896-132C>A)
 gnomAD v4
16g.28835991C=CA2215806788ATXN2Lc.2954C= (p.Pro985=)
c.929C= (p.Pro310=)
n.3328C=
c.149C= (p.Pro50=)
c.2972C= (p.Pro991=)
c.2018C= (n.2018C=)
c.223C=
c.932C= (p.Pro311=)
c.474C=
c.2975C= (p.Pro992=)
c.2957C= (p.Pro986=)
c.2795C= (p.Pro932=)
c.2903C= (p.Pro968=)
c.2885C= (p.Pro962=)
c.2609C= (p.Pro870=)
n.3184C=
c.2777C= (p.Pro926=)
c.2591C= (p.Pro864=)
n.3187C=
c.2882C= (p.Pro961=)
c.2948C= (p.Pro983=)
c.2900C= (p.Pro967=)
c.2765C= (p.Pro922=)
c.2896-132C= (n.2896-132C=)
16g.28835991C>GCA395408945ATXN2Lc.2954C>G (p.Pro985Arg)
c.929C>G (p.Pro310Arg)
n.3328C>G
c.149C>G (p.Pro50Arg)
c.2972C>G (p.Pro991Arg)
c.2018C>G (n.2018C>G)
c.223C>G
c.932C>G (p.Pro311Arg)
c.474C>G
c.2975C>G (p.Pro992Arg)
c.2957C>G (p.Pro986Arg)
c.2795C>G (p.Pro932Arg)
c.2903C>G (p.Pro968Arg)
c.2885C>G (p.Pro962Arg)
c.2609C>G (p.Pro870Arg)
n.3184C>G
c.2777C>G (p.Pro926Arg)
c.2591C>G (p.Pro864Arg)
n.3187C>G
c.2882C>G (p.Pro961Arg)
c.2948C>G (p.Pro983Arg)
c.2900C>G (p.Pro967Arg)
c.2765C>G (p.Pro922Arg)
c.2896-132C>G (n.2896-132C>G)
16g.28835991C>TCA7985147ATXN2Lc.2954C>T (p.Pro985Leu)
c.929C>T (p.Pro310Leu)
n.3328C>T
c.149C>T (p.Pro50Leu)
c.2972C>T (p.Pro991Leu)
c.2018C>T (n.2018C>T)
c.223C>T
c.932C>T (p.Pro311Leu)
c.474C>T
c.2975C>T (p.Pro992Leu)
c.2957C>T (p.Pro986Leu)
c.2795C>T (p.Pro932Leu)
c.2903C>T (p.Pro968Leu)
c.2885C>T (p.Pro962Leu)
c.2609C>T (p.Pro870Leu)
n.3184C>T
c.2777C>T (p.Pro926Leu)
c.2591C>T (p.Pro864Leu)
n.3187C>T
c.2882C>T (p.Pro961Leu)
c.2948C>T (p.Pro983Leu)
c.2900C>T (p.Pro967Leu)
c.2765C>T (p.Pro922Leu)
c.2896-132C>T (n.2896-132C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835992G>ACA7985149ATXN2Lc.2955G>A (p.Pro985=)
c.930G>A (p.Pro310=)
n.3329G>A
c.150G>A (p.Pro50=)
c.2973G>A (p.Pro991=)
c.2019G>A (n.2019G>A)
c.224G>A
c.933G>A (p.Pro311=)
c.475G>A
c.2976G>A (p.Pro992=)
c.2958G>A (p.Pro986=)
c.2796G>A (p.Pro932=)
c.2904G>A (p.Pro968=)
c.2886G>A (p.Pro962=)
c.2610G>A (p.Pro870=)
n.3185G>A
c.2778G>A (p.Pro926=)
c.2592G>A (p.Pro864=)
n.3188G>A
c.2883G>A (p.Pro961=)
c.2949G>A (p.Pro983=)
c.2901G>A (p.Pro967=)
c.2766G>A (p.Pro922=)
c.2896-131G>A (n.2896-131G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835992G>CCA7985148ATXN2Lc.2955G>C (p.Pro985=)
c.930G>C (p.Pro310=)
n.3329G>C
c.150G>C (p.Pro50=)
c.2973G>C (p.Pro991=)
c.2019G>C (n.2019G>C)
c.224G>C
c.933G>C (p.Pro311=)
c.475G>C
c.2976G>C (p.Pro992=)
c.2958G>C (p.Pro986=)
c.2796G>C (p.Pro932=)
c.2904G>C (p.Pro968=)
c.2886G>C (p.Pro962=)
c.2610G>C (p.Pro870=)
n.3185G>C
c.2778G>C (p.Pro926=)
c.2592G>C (p.Pro864=)
n.3188G>C
c.2883G>C (p.Pro961=)
c.2949G>C (p.Pro983=)
c.2901G>C (p.Pro967=)
c.2766G>C (p.Pro922=)
c.2896-131G>C (n.2896-131G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835992G=CA2215806791ATXN2Lc.2955G= (p.Pro985=)
c.930G= (p.Pro310=)
n.3329G=
c.150G= (p.Pro50=)
c.2973G= (p.Pro991=)
c.2019G= (n.2019G=)
c.224G=
c.933G= (p.Pro311=)
c.475G=
c.2976G= (p.Pro992=)
c.2958G= (p.Pro986=)
c.2796G= (p.Pro932=)
c.2904G= (p.Pro968=)
c.2886G= (p.Pro962=)
c.2610G= (p.Pro870=)
n.3185G=
c.2778G= (p.Pro926=)
c.2592G= (p.Pro864=)
n.3188G=
c.2883G= (p.Pro961=)
c.2949G= (p.Pro983=)
c.2901G= (p.Pro967=)
c.2766G= (p.Pro922=)
c.2896-131G= (n.2896-131G=)
16g.28835992G>TCA494868696ATXN2Lc.2955G>T (p.Pro985=)
c.930G>T (p.Pro310=)
n.3329G>T
c.150G>T (p.Pro50=)
c.2973G>T (p.Pro991=)
c.2019G>T (n.2019G>T)
c.224G>T
c.933G>T (p.Pro311=)
c.475G>T
c.2976G>T (p.Pro992=)
c.2958G>T (p.Pro986=)
c.2796G>T (p.Pro932=)
c.2904G>T (p.Pro968=)
c.2886G>T (p.Pro962=)
c.2610G>T (p.Pro870=)
n.3185G>T
c.2778G>T (p.Pro926=)
c.2592G>T (p.Pro864=)
n.3188G>T
c.2883G>T (p.Pro961=)
c.2949G>T (p.Pro983=)
c.2901G>T (p.Pro967=)
c.2766G>T (p.Pro922=)
c.2896-131G>T (n.2896-131G>T)
 gnomAD v4
16g.28835993C>ACA395408950ATXN2Lc.2956C>A (p.Pro986Thr)
c.931C>A (p.Pro311Thr)
n.3330C>A
c.151C>A (p.Pro51Thr)
c.2974C>A (p.Pro992Thr)
c.2020C>A (n.2020C>A)
c.225C>A
c.934C>A (p.Pro312Thr)
c.476C>A
c.2977C>A (p.Pro993Thr)
c.2959C>A (p.Pro987Thr)
c.2797C>A (p.Pro933Thr)
c.2905C>A (p.Pro969Thr)
c.2887C>A (p.Pro963Thr)
c.2611C>A (p.Pro871Thr)
n.3186C>A
c.2779C>A (p.Pro927Thr)
c.2593C>A (p.Pro865Thr)
n.3189C>A
c.2884C>A (p.Pro962Thr)
c.2950C>A (p.Pro984Thr)
c.2902C>A (p.Pro968Thr)
c.2767C>A (p.Pro923Thr)
c.2896-130C>A (n.2896-130C>A)
16g.28835993C=CA2215806792ATXN2Lc.2956C= (p.Pro986=)
c.931C= (p.Pro311=)
n.3330C=
c.151C= (p.Pro51=)
c.2974C= (p.Pro992=)
c.2020C= (n.2020C=)
c.225C=
c.934C= (p.Pro312=)
c.476C=
c.2977C= (p.Pro993=)
c.2959C= (p.Pro987=)
c.2797C= (p.Pro933=)
c.2905C= (p.Pro969=)
c.2887C= (p.Pro963=)
c.2611C= (p.Pro871=)
n.3186C=
c.2779C= (p.Pro927=)
c.2593C= (p.Pro865=)
n.3189C=
c.2884C= (p.Pro962=)
c.2950C= (p.Pro984=)
c.2902C= (p.Pro968=)
c.2767C= (p.Pro923=)
c.2896-130C= (n.2896-130C=)
16g.28835993C>GCA395408952ATXN2Lc.2956C>G (p.Pro986Ala)
c.931C>G (p.Pro311Ala)
n.3330C>G
c.151C>G (p.Pro51Ala)
c.2974C>G (p.Pro992Ala)
c.2020C>G (n.2020C>G)
c.225C>G
c.934C>G (p.Pro312Ala)
c.476C>G
c.2977C>G (p.Pro993Ala)
c.2959C>G (p.Pro987Ala)
c.2797C>G (p.Pro933Ala)
c.2905C>G (p.Pro969Ala)
c.2887C>G (p.Pro963Ala)
c.2611C>G (p.Pro871Ala)
n.3186C>G
c.2779C>G (p.Pro927Ala)
c.2593C>G (p.Pro865Ala)
n.3189C>G
c.2884C>G (p.Pro962Ala)
c.2950C>G (p.Pro984Ala)
c.2902C>G (p.Pro968Ala)
c.2767C>G (p.Pro923Ala)
c.2896-130C>G (n.2896-130C>G)
16g.28835993C>TCA279230895ATXN2Lc.2956C>T (p.Pro986Ser)
c.931C>T (p.Pro311Ser)
n.3330C>T
c.151C>T (p.Pro51Ser)
c.2974C>T (p.Pro992Ser)
c.2020C>T (n.2020C>T)
c.225C>T
c.934C>T (p.Pro312Ser)
c.476C>T
c.2977C>T (p.Pro993Ser)
c.2959C>T (p.Pro987Ser)
c.2797C>T (p.Pro933Ser)
c.2905C>T (p.Pro969Ser)
c.2887C>T (p.Pro963Ser)
c.2611C>T (p.Pro871Ser)
n.3186C>T
c.2779C>T (p.Pro927Ser)
c.2593C>T (p.Pro865Ser)
n.3189C>T
c.2884C>T (p.Pro962Ser)
c.2950C>T (p.Pro984Ser)
c.2902C>T (p.Pro968Ser)
c.2767C>T (p.Pro923Ser)
c.2896-130C>T (n.2896-130C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835996delCA2632529164ATXN2Lc.2959del (p.Gln987ArgfsTer2)
c.934del (p.Gln312ArgfsTer2)
n.3333del
c.154del (p.Gln52ArgfsTer2)
c.2977del (p.Gln993ArgfsTer2)
c.2023del (n.2023del)
c.228del
c.937del (p.Gln313ArgfsTer2)
c.479del
c.2980del (p.Gln994ArgfsTer2)
c.2962del (p.Gln988ArgfsTer2)
c.2800del (p.Gln934ArgfsTer2)
c.2908del (p.Gln970ArgfsTer2)
c.2890del (p.Gln964ArgfsTer2)
c.2614del (p.Gln872ArgfsTer2)
n.3189del
c.2782del (p.Gln928ArgfsTer2)
c.2596del (p.Gln866ArgfsTer2)
n.3192del
c.2887del (p.Gln963ArgfsTer2)
c.2953del (p.Gln985ArgfsTer2)
c.2905del (p.Gln969ArgfsTer2)
c.2770del (p.Gln924ArgfsTer2)
c.2896-127del (n.2896-127del)
 gnomAD v4
16g.28835994C>ACA395408955ATXN2Lc.2957C>A (p.Pro986His)
c.932C>A (p.Pro311His)
n.3331C>A
c.152C>A (p.Pro51His)
c.2975C>A (p.Pro992His)
c.2021C>A (n.2021C>A)
c.226C>A
c.935C>A (p.Pro312His)
c.477C>A
c.2978C>A (p.Pro993His)
c.2960C>A (p.Pro987His)
c.2798C>A (p.Pro933His)
c.2906C>A (p.Pro969His)
c.2888C>A (p.Pro963His)
c.2612C>A (p.Pro871His)
n.3187C>A
c.2780C>A (p.Pro927His)
c.2594C>A (p.Pro865His)
n.3190C>A
c.2885C>A (p.Pro962His)
c.2951C>A (p.Pro984His)
c.2903C>A (p.Pro968His)
c.2768C>A (p.Pro923His)
c.2896-129C>A (n.2896-129C>A)
16g.28835994C>GCA395408957ATXN2Lc.2957C>G (p.Pro986Arg)
c.932C>G (p.Pro311Arg)
n.3331C>G
c.152C>G (p.Pro51Arg)
c.2975C>G (p.Pro992Arg)
c.2021C>G (n.2021C>G)
c.226C>G
c.935C>G (p.Pro312Arg)
c.477C>G
c.2978C>G (p.Pro993Arg)
c.2960C>G (p.Pro987Arg)
c.2798C>G (p.Pro933Arg)
c.2906C>G (p.Pro969Arg)
c.2888C>G (p.Pro963Arg)
c.2612C>G (p.Pro871Arg)
n.3187C>G
c.2780C>G (p.Pro927Arg)
c.2594C>G (p.Pro865Arg)
n.3190C>G
c.2885C>G (p.Pro962Arg)
c.2951C>G (p.Pro984Arg)
c.2903C>G (p.Pro968Arg)
c.2768C>G (p.Pro923Arg)
c.2896-129C>G (n.2896-129C>G)
16g.28835994C>TCA395408959ATXN2Lc.2957C>T (p.Pro986Leu)
c.932C>T (p.Pro311Leu)
n.3331C>T
c.152C>T (p.Pro51Leu)
c.2975C>T (p.Pro992Leu)
c.2021C>T (n.2021C>T)
c.226C>T
c.935C>T (p.Pro312Leu)
c.477C>T
c.2978C>T (p.Pro993Leu)
c.2960C>T (p.Pro987Leu)
c.2798C>T (p.Pro933Leu)
c.2906C>T (p.Pro969Leu)
c.2888C>T (p.Pro963Leu)
c.2612C>T (p.Pro871Leu)
n.3187C>T
c.2780C>T (p.Pro927Leu)
c.2594C>T (p.Pro865Leu)
n.3190C>T
c.2885C>T (p.Pro962Leu)
c.2951C>T (p.Pro984Leu)
c.2903C>T (p.Pro968Leu)
c.2768C>T (p.Pro923Leu)
c.2896-129C>T (n.2896-129C>T)
16g.28835995C>ACA494868728ATXN2Lc.2958C>A (p.Pro986=)
c.933C>A (p.Pro311=)
n.3332C>A
c.153C>A (p.Pro51=)
c.2976C>A (p.Pro992=)
c.2022C>A (n.2022C>A)
c.227C>A
c.936C>A (p.Pro312=)
c.478C>A
c.2979C>A (p.Pro993=)
c.2961C>A (p.Pro987=)
c.2799C>A (p.Pro933=)
c.2907C>A (p.Pro969=)
c.2889C>A (p.Pro963=)
c.2613C>A (p.Pro871=)
n.3188C>A
c.2781C>A (p.Pro927=)
c.2595C>A (p.Pro865=)
n.3191C>A
c.2886C>A (p.Pro962=)
c.2952C>A (p.Pro984=)
c.2904C>A (p.Pro968=)
c.2769C>A (p.Pro923=)
c.2896-128C>A (n.2896-128C>A)
16g.28835995C>GCA494868731ATXN2Lc.2958C>G (p.Pro986=)
c.933C>G (p.Pro311=)
n.3332C>G
c.153C>G (p.Pro51=)
c.2976C>G (p.Pro992=)
c.2022C>G (n.2022C>G)
c.227C>G
c.936C>G (p.Pro312=)
c.478C>G
c.2979C>G (p.Pro993=)
c.2961C>G (p.Pro987=)
c.2799C>G (p.Pro933=)
c.2907C>G (p.Pro969=)
c.2889C>G (p.Pro963=)
c.2613C>G (p.Pro871=)
n.3188C>G
c.2781C>G (p.Pro927=)
c.2595C>G (p.Pro865=)
n.3191C>G
c.2886C>G (p.Pro962=)
c.2952C>G (p.Pro984=)
c.2904C>G (p.Pro968=)
c.2769C>G (p.Pro923=)
c.2896-128C>G (n.2896-128C>G)
 COSMIC COSMIC
16g.28835995C>TCA494868732ATXN2Lc.2958C>T (p.Pro986=)
c.933C>T (p.Pro311=)
n.3332C>T
c.153C>T (p.Pro51=)
c.2976C>T (p.Pro992=)
c.2022C>T (n.2022C>T)
c.227C>T
c.936C>T (p.Pro312=)
c.478C>T
c.2979C>T (p.Pro993=)
c.2961C>T (p.Pro987=)
c.2799C>T (p.Pro933=)
c.2907C>T (p.Pro969=)
c.2889C>T (p.Pro963=)
c.2613C>T (p.Pro871=)
n.3188C>T
c.2781C>T (p.Pro927=)
c.2595C>T (p.Pro865=)
n.3191C>T
c.2886C>T (p.Pro962=)
c.2952C>T (p.Pro984=)
c.2904C>T (p.Pro968=)
c.2769C>T (p.Pro923=)
c.2896-128C>T (n.2896-128C>T)
 gnomAD v4
16g.28835996C>ACA395408961ATXN2Lc.2959C>A (p.Gln987Lys)
c.934C>A (p.Gln312Lys)
n.3333C>A
c.154C>A (p.Gln52Lys)
c.2977C>A (p.Gln993Lys)
c.2023C>A (n.2023C>A)
c.228C>A
c.937C>A (p.Gln313Lys)
c.479C>A
c.2980C>A (p.Gln994Lys)
c.2962C>A (p.Gln988Lys)
c.2800C>A (p.Gln934Lys)
c.2908C>A (p.Gln970Lys)
c.2890C>A (p.Gln964Lys)
c.2614C>A (p.Gln872Lys)
n.3189C>A
c.2782C>A (p.Gln928Lys)
c.2596C>A (p.Gln866Lys)
n.3192C>A
c.2887C>A (p.Gln963Lys)
c.2953C>A (p.Gln985Lys)
c.2905C>A (p.Gln969Lys)
c.2770C>A (p.Gln924Lys)
c.2896-127C>A (n.2896-127C>A)
16g.28835996C=CA2215806793ATXN2Lc.2959C= (p.Gln987=)
c.934C= (p.Gln312=)
n.3333C=
c.154C= (p.Gln52=)
c.2977C= (p.Gln993=)
c.2023C= (n.2023C=)
c.228C=
c.937C= (p.Gln313=)
c.479C=
c.2980C= (p.Gln994=)
c.2962C= (p.Gln988=)
c.2800C= (p.Gln934=)
c.2908C= (p.Gln970=)
c.2890C= (p.Gln964=)
c.2614C= (p.Gln872=)
n.3189C=
c.2782C= (p.Gln928=)
c.2596C= (p.Gln866=)
n.3192C=
c.2887C= (p.Gln963=)
c.2953C= (p.Gln985=)
c.2905C= (p.Gln969=)
c.2770C= (p.Gln924=)
c.2896-127C= (n.2896-127C=)
16g.28835996C>GCA395408963ATXN2Lc.2959C>G (p.Gln987Glu)
c.934C>G (p.Gln312Glu)
n.3333C>G
c.154C>G (p.Gln52Glu)
c.2977C>G (p.Gln993Glu)
c.2023C>G (n.2023C>G)
c.228C>G
c.937C>G (p.Gln313Glu)
c.479C>G
c.2980C>G (p.Gln994Glu)
c.2962C>G (p.Gln988Glu)
c.2800C>G (p.Gln934Glu)
c.2908C>G (p.Gln970Glu)
c.2890C>G (p.Gln964Glu)
c.2614C>G (p.Gln872Glu)
n.3189C>G
c.2782C>G (p.Gln928Glu)
c.2596C>G (p.Gln866Glu)
n.3192C>G
c.2887C>G (p.Gln963Glu)
c.2953C>G (p.Gln985Glu)
c.2905C>G (p.Gln969Glu)
c.2770C>G (p.Gln924Glu)
c.2896-127C>G (n.2896-127C>G)
16g.28835996C>TCA395408965ATXN2Lc.2959C>T (p.Gln987Ter)
c.934C>T (p.Gln312Ter)
n.3333C>T
c.154C>T (p.Gln52Ter)
c.2977C>T (p.Gln993Ter)
c.2023C>T (n.2023C>T)
c.228C>T
c.937C>T (p.Gln313Ter)
c.479C>T
c.2980C>T (p.Gln994Ter)
c.2962C>T (p.Gln988Ter)
c.2800C>T (p.Gln934Ter)
c.2908C>T (p.Gln970Ter)
c.2890C>T (p.Gln964Ter)
c.2614C>T (p.Gln872Ter)
n.3189C>T
c.2782C>T (p.Gln928Ter)
c.2596C>T (p.Gln866Ter)
n.3192C>T
c.2887C>T (p.Gln963Ter)
c.2953C>T (p.Gln985Ter)
c.2905C>T (p.Gln969Ter)
c.2770C>T (p.Gln924Ter)
c.2896-127C>T (n.2896-127C>T)
 dbSNP
16g.28835996_28835997insCGCA2632529167ATXN2Lc.2959_2960insCG (p.Gln987ProfsTer3)
c.934_935insCG (p.Gln312ProfsTer3)
n.3333_3334insCG
c.154_155insCG (p.Gln52ProfsTer3)
c.2977_2978insCG (p.Gln993ProfsTer3)
c.2023_2024insCG (n.2023_2024insCG)
c.228_229insCG
c.937_938insCG (p.Gln313ProfsTer3)
c.479_480insCG
c.2980_2981insCG (p.Gln994ProfsTer3)
c.2962_2963insCG (p.Gln988ProfsTer3)
c.2800_2801insCG (p.Gln934ProfsTer3)
c.2908_2909insCG (p.Gln970ProfsTer3)
c.2890_2891insCG (p.Gln964ProfsTer3)
c.2614_2615insCG (p.Gln872ProfsTer3)
n.3189_3190insCG
c.2782_2783insCG (p.Gln928ProfsTer3)
c.2596_2597insCG (p.Gln866ProfsTer3)
n.3192_3193insCG
c.2887_2888insCG (p.Gln963ProfsTer3)
c.2953_2954insCG (p.Gln985ProfsTer3)
c.2905_2906insCG (p.Gln969ProfsTer3)
c.2770_2771insCG (p.Gln924ProfsTer3)
c.2896-127_2896-126insCG (n.2896-127_2896-126insCG)
 gnomAD v4
16g.28835996_28835997insCCGCA2593659549ATXN2Lc.2959_2960insCCG (p.Gln987delinsProGlu)
c.934_935insCCG (p.Gln312delinsProGlu)
n.3333_3334insCCG
c.154_155insCCG (p.Gln52delinsProGlu)
c.2977_2978insCCG (p.Gln993delinsProGlu)
c.2023_2024insCCG (n.2023_2024insCCG)
c.228_229insCCG
c.937_938insCCG (p.Gln313delinsProGlu)
c.479_480insCCG
c.2980_2981insCCG (p.Gln994delinsProGlu)
c.2962_2963insCCG (p.Gln988delinsProGlu)
c.2800_2801insCCG (p.Gln934delinsProGlu)
c.2908_2909insCCG (p.Gln970delinsProGlu)
c.2890_2891insCCG (p.Gln964delinsProGlu)
c.2614_2615insCCG (p.Gln872delinsProGlu)
n.3189_3190insCCG
c.2782_2783insCCG (p.Gln928delinsProGlu)
c.2596_2597insCCG (p.Gln866delinsProGlu)
n.3192_3193insCCG
c.2887_2888insCCG (p.Gln963delinsProGlu)
c.2953_2954insCCG (p.Gln985delinsProGlu)
c.2905_2906insCCG (p.Gln969delinsProGlu)
c.2770_2771insCCG (p.Gln924delinsProGlu)
c.2896-127_2896-126insCCG (n.2896-127_2896-126insCCG)
 gnomAD v3 gnomAD v4
16g.28835996_28835997insCGGGGTTCA2632529168ATXN2Lc.2959_2960insCGGGGTT (p.Gln987ProfsTer?)
c.934_935insCGGGGTT (p.Gln312ProfsTer?)
n.3333_3334insCGGGGTT
c.154_155insCGGGGTT (p.Gln52ProfsTer?)
c.2977_2978insCGGGGTT (p.Gln993ProfsTer?)
c.2023_2024insCGGGGTT (n.2023_2024insCGGGGTT)
c.228_229insCGGGGTT
c.937_938insCGGGGTT (p.Gln313ProfsTer?)
c.479_480insCGGGGTT
c.2980_2981insCGGGGTT (p.Gln994ProfsTer?)
c.2962_2963insCGGGGTT (p.Gln988ProfsTer?)
c.2800_2801insCGGGGTT (p.Gln934ProfsTer?)
c.2908_2909insCGGGGTT (p.Gln970ProfsTer?)
c.2890_2891insCGGGGTT (p.Gln964ProfsTer?)
c.2614_2615insCGGGGTT (p.Gln872ProfsTer?)
n.3189_3190insCGGGGTT
c.2782_2783insCGGGGTT (p.Gln928ProfsTer?)
c.2596_2597insCGGGGTT (p.Gln866ProfsTer?)
n.3192_3193insCGGGGTT
c.2887_2888insCGGGGTT (p.Gln963ProfsTer?)
c.2953_2954insCGGGGTT (p.Gln985ProfsTer?)
c.2905_2906insCGGGGTT (p.Gln969ProfsTer?)
c.2770_2771insCGGGGTT (p.Gln924ProfsTer?)
c.2896-127_2896-126insCGGGGTT (n.2896-127_2896-126insCGGGGTT)
 gnomAD v4
16g.28835996_28835997insCCGGGGTTCA2806421857ATXN2Lc.2959_2960insCCGGGGTT (p.Gln987ProfsTer5)
c.934_935insCCGGGGTT (p.Gln312ProfsTer5)
n.3333_3334insCCGGGGTT
c.154_155insCCGGGGTT (p.Gln52ProfsTer5)
c.2977_2978insCCGGGGTT (p.Gln993ProfsTer5)
c.2023_2024insCCGGGGTT (n.2023_2024insCCGGGGTT)
c.228_229insCCGGGGTT
c.937_938insCCGGGGTT (p.Gln313ProfsTer5)
c.479_480insCCGGGGTT
c.2980_2981insCCGGGGTT (p.Gln994ProfsTer5)
c.2962_2963insCCGGGGTT (p.Gln988ProfsTer5)
c.2800_2801insCCGGGGTT (p.Gln934ProfsTer5)
c.2908_2909insCCGGGGTT (p.Gln970ProfsTer5)
c.2890_2891insCCGGGGTT (p.Gln964ProfsTer5)
c.2614_2615insCCGGGGTT (p.Gln872ProfsTer5)
n.3189_3190insCCGGGGTT
c.2782_2783insCCGGGGTT (p.Gln928ProfsTer5)
c.2596_2597insCCGGGGTT (p.Gln866ProfsTer5)
n.3192_3193insCCGGGGTT
c.2887_2888insCCGGGGTT (p.Gln963ProfsTer5)
c.2953_2954insCCGGGGTT (p.Gln985ProfsTer5)
c.2905_2906insCCGGGGTT (p.Gln969ProfsTer5)
c.2770_2771insCCGGGGTT (p.Gln924ProfsTer5)
c.2896-127_2896-126insCCGGGGTT (n.2896-127_2896-126insCCGGGGTT)
16g.28835997A=CA2215806794ATXN2Lc.2960A= (p.Gln987=)
c.935A= (p.Gln312=)
n.3334A=
c.155A= (p.Gln52=)
c.2978A= (p.Gln993=)
c.2024A= (n.2024A=)
c.229A=
c.938A= (p.Gln313=)
c.480A=
c.2981A= (p.Gln994=)
c.2963A= (p.Gln988=)
c.2801A= (p.Gln934=)
c.2909A= (p.Gln970=)
c.2891A= (p.Gln964=)
c.2615A= (p.Gln872=)
n.3190A=
c.2783A= (p.Gln928=)
c.2597A= (p.Gln866=)
n.3193A=
c.2888A= (p.Gln963=)
c.2954A= (p.Gln985=)
c.2906A= (p.Gln969=)
c.2771A= (p.Gln924=)
c.2896-126A= (n.2896-126A=)
16g.28835997A>CCA395408970ATXN2Lc.2960A>C (p.Gln987Pro)
c.935A>C (p.Gln312Pro)
n.3334A>C
c.155A>C (p.Gln52Pro)
c.2978A>C (p.Gln993Pro)
c.2024A>C (n.2024A>C)
c.229A>C
c.938A>C (p.Gln313Pro)
c.480A>C
c.2981A>C (p.Gln994Pro)
c.2963A>C (p.Gln988Pro)
c.2801A>C (p.Gln934Pro)
c.2909A>C (p.Gln970Pro)
c.2891A>C (p.Gln964Pro)
c.2615A>C (p.Gln872Pro)
n.3190A>C
c.2783A>C (p.Gln928Pro)
c.2597A>C (p.Gln866Pro)
n.3193A>C
c.2888A>C (p.Gln963Pro)
c.2954A>C (p.Gln985Pro)
c.2906A>C (p.Gln969Pro)
c.2771A>C (p.Gln924Pro)
c.2896-126A>C (n.2896-126A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28835997A>GCA395408969ATXN2Lc.2960A>G (p.Gln987Arg)
c.935A>G (p.Gln312Arg)
n.3334A>G
c.155A>G (p.Gln52Arg)
c.2978A>G (p.Gln993Arg)
c.2024A>G (n.2024A>G)
c.229A>G
c.938A>G (p.Gln313Arg)
c.480A>G
c.2981A>G (p.Gln994Arg)
c.2963A>G (p.Gln988Arg)
c.2801A>G (p.Gln934Arg)
c.2909A>G (p.Gln970Arg)
c.2891A>G (p.Gln964Arg)
c.2615A>G (p.Gln872Arg)
n.3190A>G
c.2783A>G (p.Gln928Arg)
c.2597A>G (p.Gln866Arg)
n.3193A>G
c.2888A>G (p.Gln963Arg)
c.2954A>G (p.Gln985Arg)
c.2906A>G (p.Gln969Arg)
c.2771A>G (p.Gln924Arg)
c.2896-126A>G (n.2896-126A>G)
 gnomAD v3 gnomAD v4
16g.28835997A>TCA395408968ATXN2Lc.2960A>T (p.Gln987Leu)
c.935A>T (p.Gln312Leu)
n.3334A>T
c.155A>T (p.Gln52Leu)
c.2978A>T (p.Gln993Leu)
c.2024A>T (n.2024A>T)
c.229A>T
c.938A>T (p.Gln313Leu)
c.480A>T
c.2981A>T (p.Gln994Leu)
c.2963A>T (p.Gln988Leu)
c.2801A>T (p.Gln934Leu)
c.2909A>T (p.Gln970Leu)
c.2891A>T (p.Gln964Leu)
c.2615A>T (p.Gln872Leu)
n.3190A>T
c.2783A>T (p.Gln928Leu)
c.2597A>T (p.Gln866Leu)
n.3193A>T
c.2888A>T (p.Gln963Leu)
c.2954A>T (p.Gln985Leu)
c.2906A>T (p.Gln969Leu)
c.2771A>T (p.Gln924Leu)
c.2896-126A>T (n.2896-126A>T)
 gnomAD v4
16g.28835997_28835998delCA2632529169ATXN2Lc.2960_2961del (p.Gln987ArgfsTer?)
c.935_936del (p.Gln312ArgfsTer?)
n.3334_3335del
c.155_156del (p.Gln52ArgfsTer?)
c.2978_2979del (p.Gln993ArgfsTer?)
c.2024_2025del (n.2024_2025del)
c.229_230del
c.938_939del (p.Gln313ArgfsTer?)
c.480_481del
c.2981_2982del (p.Gln994ArgfsTer?)
c.2963_2964del (p.Gln988ArgfsTer?)
c.2801_2802del (p.Gln934ArgfsTer?)
c.2909_2910del (p.Gln970ArgfsTer?)
c.2891_2892del (p.Gln964ArgfsTer?)
c.2615_2616del (p.Gln872ArgfsTer?)
n.3190_3191del
c.2783_2784del (p.Gln928ArgfsTer?)
c.2597_2598del (p.Gln866ArgfsTer?)
n.3193_3194del
c.2888_2889del (p.Gln963ArgfsTer?)
c.2954_2955del (p.Gln985ArgfsTer?)
c.2906_2907del (p.Gln969ArgfsTer?)
c.2771_2772del (p.Gln924ArgfsTer?)
c.2896-126_2896-125del (n.2896-126_2896-125del)
 gnomAD v4
16g.28835998G>ACA494868753ATXN2Lc.2961G>A (p.Gln987=)
c.936G>A (p.Gln312=)
n.3335G>A
c.156G>A (p.Gln52=)
c.2979G>A (p.Gln993=)
c.2025G>A (n.2025G>A)
c.230G>A
c.939G>A (p.Gln313=)
c.481G>A
c.2982G>A (p.Gln994=)
c.2964G>A (p.Gln988=)
c.2802G>A (p.Gln934=)
c.2910G>A (p.Gln970=)
c.2892G>A (p.Gln964=)
c.2616G>A (p.Gln872=)
n.3191G>A
c.2784G>A (p.Gln928=)
c.2598G>A (p.Gln866=)
n.3194G>A
c.2889G>A (p.Gln963=)
c.2955G>A (p.Gln985=)
c.2907G>A (p.Gln969=)
c.2772G>A (p.Gln924=)
c.2896-125G>A (n.2896-125G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.28835998G>CCA395408972ATXN2Lc.2961G>C (p.Gln987His)
c.936G>C (p.Gln312His)
n.3335G>C
c.156G>C (p.Gln52His)
c.2979G>C (p.Gln993His)
c.2025G>C (n.2025G>C)
c.230G>C
c.939G>C (p.Gln313His)
c.481G>C
c.2982G>C (p.Gln994His)
c.2964G>C (p.Gln988His)
c.2802G>C (p.Gln934His)
c.2910G>C (p.Gln970His)
c.2892G>C (p.Gln964His)
c.2616G>C (p.Gln872His)
n.3191G>C
c.2784G>C (p.Gln928His)
c.2598G>C (p.Gln866His)
n.3194G>C
c.2889G>C (p.Gln963His)
c.2955G>C (p.Gln985His)
c.2907G>C (p.Gln969His)
c.2772G>C (p.Gln924His)
c.2896-125G>C (n.2896-125G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28835998G=CA2215806796ATXN2Lc.2961G= (p.Gln987=)
c.936G= (p.Gln312=)
n.3335G=
c.156G= (p.Gln52=)
c.2979G= (p.Gln993=)
c.2025G= (n.2025G=)
c.230G=
c.939G= (p.Gln313=)
c.481G=
c.2982G= (p.Gln994=)
c.2964G= (p.Gln988=)
c.2802G= (p.Gln934=)
c.2910G= (p.Gln970=)
c.2892G= (p.Gln964=)
c.2616G= (p.Gln872=)
n.3191G=
c.2784G= (p.Gln928=)
c.2598G= (p.Gln866=)
n.3194G=
c.2889G= (p.Gln963=)
c.2955G= (p.Gln985=)
c.2907G= (p.Gln969=)
c.2772G= (p.Gln924=)
c.2896-125G= (n.2896-125G=)
16g.28835998G>TCA395408974ATXN2Lc.2961G>T (p.Gln987His)
c.936G>T (p.Gln312His)
n.3335G>T
c.156G>T (p.Gln52His)
c.2979G>T (p.Gln993His)
c.2025G>T (n.2025G>T)
c.230G>T
c.939G>T (p.Gln313His)
c.481G>T
c.2982G>T (p.Gln994His)
c.2964G>T (p.Gln988His)
c.2802G>T (p.Gln934His)
c.2910G>T (p.Gln970His)
c.2892G>T (p.Gln964His)
c.2616G>T (p.Gln872His)
n.3191G>T
c.2784G>T (p.Gln928His)
c.2598G>T (p.Gln866His)
n.3194G>T
c.2889G>T (p.Gln963His)
c.2955G>T (p.Gln985His)
c.2907G>T (p.Gln969His)
c.2772G>T (p.Gln924His)
c.2896-125G>T (n.2896-125G>T)
16g.28835999G>ACA7985150ATXN2Lc.2962G>A (p.Val988Met)
c.937G>A (p.Val313Met)
n.3336G>A
c.157G>A (p.Val53Met)
c.2980G>A (p.Val994Met)
c.2026G>A (n.2026G>A)
c.231G>A
c.940G>A (p.Val314Met)
c.482G>A
c.2983G>A (p.Val995Met)
c.2965G>A (p.Val989Met)
c.2803G>A (p.Val935Met)
c.2911G>A (p.Val971Met)
c.2893G>A (p.Val965Met)
c.2617G>A (p.Val873Met)
n.3192G>A
c.2785G>A (p.Val929Met)
c.2599G>A (p.Val867Met)
n.3195G>A
c.2890G>A (p.Val964Met)
c.2956G>A (p.Val986Met)
c.2908G>A (p.Val970Met)
c.2773G>A (p.Val925Met)
c.2896-124G>A (n.2896-124G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835999G>CCA395408976ATXN2Lc.2962G>C (p.Val988Leu)
c.937G>C (p.Val313Leu)
n.3336G>C
c.157G>C (p.Val53Leu)
c.2980G>C (p.Val994Leu)
c.2026G>C (n.2026G>C)
c.231G>C
c.940G>C (p.Val314Leu)
c.482G>C
c.2983G>C (p.Val995Leu)
c.2965G>C (p.Val989Leu)
c.2803G>C (p.Val935Leu)
c.2911G>C (p.Val971Leu)
c.2893G>C (p.Val965Leu)
c.2617G>C (p.Val873Leu)
n.3192G>C
c.2785G>C (p.Val929Leu)
c.2599G>C (p.Val867Leu)
n.3195G>C
c.2890G>C (p.Val964Leu)
c.2956G>C (p.Val986Leu)
c.2908G>C (p.Val970Leu)
c.2773G>C (p.Val925Leu)
c.2896-124G>C (n.2896-124G>C)
16g.28835999G=CA2215806798ATXN2Lc.2962G= (p.Val988=)
c.937G= (p.Val313=)
n.3336G=
c.157G= (p.Val53=)
c.2980G= (p.Val994=)
c.2026G= (n.2026G=)
c.231G=
c.940G= (p.Val314=)
c.482G=
c.2983G= (p.Val995=)
c.2965G= (p.Val989=)
c.2803G= (p.Val935=)
c.2911G= (p.Val971=)
c.2893G= (p.Val965=)
c.2617G= (p.Val873=)
n.3192G=
c.2785G= (p.Val929=)
c.2599G= (p.Val867=)
n.3195G=
c.2890G= (p.Val964=)
c.2956G= (p.Val986=)
c.2908G= (p.Val970=)
c.2773G= (p.Val925=)
c.2896-124G= (n.2896-124G=)
16g.28835999G>TCA395408978ATXN2Lc.2962G>T (p.Val988Leu)
c.937G>T (p.Val313Leu)
n.3336G>T
c.157G>T (p.Val53Leu)
c.2980G>T (p.Val994Leu)
c.2026G>T (n.2026G>T)
c.231G>T
c.940G>T (p.Val314Leu)
c.482G>T
c.2983G>T (p.Val995Leu)
c.2965G>T (p.Val989Leu)
c.2803G>T (p.Val935Leu)
c.2911G>T (p.Val971Leu)
c.2893G>T (p.Val965Leu)
c.2617G>T (p.Val873Leu)
n.3192G>T
c.2785G>T (p.Val929Leu)
c.2599G>T (p.Val867Leu)
n.3195G>T
c.2890G>T (p.Val964Leu)
c.2956G>T (p.Val986Leu)
c.2908G>T (p.Val970Leu)
c.2773G>T (p.Val925Leu)
c.2896-124G>T (n.2896-124G>T)
16g.28836000delCA2632529179ATXN2Lc.2963del (p.Val988GlyfsTer?)
c.938del (p.Val313GlyfsTer?)
n.3337del
c.158del (p.Val53GlyfsTer?)
c.2981del (p.Val994GlyfsTer?)
c.2027del (n.2027del)
c.232del
c.941del (p.Val314GlyfsTer?)
c.483del
c.2984del (p.Val995GlyfsTer?)
c.2966del (p.Val989GlyfsTer?)
c.2804del (p.Val935GlyfsTer?)
c.2912del (p.Val971GlyfsTer?)
c.2894del (p.Val965GlyfsTer?)
c.2618del (p.Val873GlyfsTer?)
n.3193del
c.2786del (p.Val929GlyfsTer?)
c.2600del (p.Val867GlyfsTer?)
n.3196del
c.2891del (p.Val964GlyfsTer?)
c.2957del (p.Val986GlyfsTer?)
c.2909del (p.Val970GlyfsTer?)
c.2774del (p.Val925GlyfsTer?)
c.2896-123del (n.2896-123del)
 gnomAD v4
16g.28836000T>ACA395408980ATXN2Lc.2963T>A (p.Val988Glu)
c.938T>A (p.Val313Glu)
n.3337T>A
c.158T>A (p.Val53Glu)
c.2981T>A (p.Val994Glu)
c.2027T>A (n.2027T>A)
c.232T>A
c.941T>A (p.Val314Glu)
c.483T>A
c.2984T>A (p.Val995Glu)
c.2966T>A (p.Val989Glu)
c.2804T>A (p.Val935Glu)
c.2912T>A (p.Val971Glu)
c.2894T>A (p.Val965Glu)
c.2618T>A (p.Val873Glu)
n.3193T>A
c.2786T>A (p.Val929Glu)
c.2600T>A (p.Val867Glu)
n.3196T>A
c.2891T>A (p.Val964Glu)
c.2957T>A (p.Val986Glu)
c.2909T>A (p.Val970Glu)
c.2774T>A (p.Val925Glu)
c.2896-123T>A (n.2896-123T>A)
16g.28836000T>CCA395408982ATXN2Lc.2963T>C (p.Val988Ala)
c.938T>C (p.Val313Ala)
n.3337T>C
c.158T>C (p.Val53Ala)
c.2981T>C (p.Val994Ala)
c.2027T>C (n.2027T>C)
c.232T>C
c.941T>C (p.Val314Ala)
c.483T>C
c.2984T>C (p.Val995Ala)
c.2966T>C (p.Val989Ala)
c.2804T>C (p.Val935Ala)
c.2912T>C (p.Val971Ala)
c.2894T>C (p.Val965Ala)
c.2618T>C (p.Val873Ala)
n.3193T>C
c.2786T>C (p.Val929Ala)
c.2600T>C (p.Val867Ala)
n.3196T>C
c.2891T>C (p.Val964Ala)
c.2957T>C (p.Val986Ala)
c.2909T>C (p.Val970Ala)
c.2774T>C (p.Val925Ala)
c.2896-123T>C (n.2896-123T>C)
16g.28836000T>GCA395408986ATXN2Lc.2963T>G (p.Val988Gly)
c.938T>G (p.Val313Gly)
n.3337T>G
c.158T>G (p.Val53Gly)
c.2981T>G (p.Val994Gly)
c.2027T>G (n.2027T>G)
c.232T>G
c.941T>G (p.Val314Gly)
c.483T>G
c.2984T>G (p.Val995Gly)
c.2966T>G (p.Val989Gly)
c.2804T>G (p.Val935Gly)
c.2912T>G (p.Val971Gly)
c.2894T>G (p.Val965Gly)
c.2618T>G (p.Val873Gly)
n.3193T>G
c.2786T>G (p.Val929Gly)
c.2600T>G (p.Val867Gly)
n.3196T>G
c.2891T>G (p.Val964Gly)
c.2957T>G (p.Val986Gly)
c.2909T>G (p.Val970Gly)
c.2774T>G (p.Val925Gly)
c.2896-123T>G (n.2896-123T>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28836000T=CA2215806800ATXN2Lc.2963T= (p.Val988=)
c.938T= (p.Val313=)
n.3337T=
c.158T= (p.Val53=)
c.2981T= (p.Val994=)
c.2027T= (n.2027T=)
c.232T=
c.941T= (p.Val314=)
c.483T=
c.2984T= (p.Val995=)
c.2966T= (p.Val989=)
c.2804T= (p.Val935=)
c.2912T= (p.Val971=)
c.2894T= (p.Val965=)
c.2618T= (p.Val873=)
n.3193T=
c.2786T= (p.Val929=)
c.2600T= (p.Val867=)
n.3196T=
c.2891T= (p.Val964=)
c.2957T= (p.Val986=)
c.2909T= (p.Val970=)
c.2774T= (p.Val925=)
c.2896-123T= (n.2896-123T=)
16g.28836001G>ACA494868767ATXN2Lc.2964G>A (p.Val988=)
c.939G>A (p.Val313=)
n.3338G>A
c.159G>A (p.Val53=)
c.2982G>A (p.Val994=)
c.2028G>A (n.2028G>A)
c.233G>A
c.942G>A (p.Val314=)
c.484G>A
c.2985G>A (p.Val995=)
c.2967G>A (p.Val989=)
c.2805G>A (p.Val935=)
c.2913G>A (p.Val971=)
c.2895G>A (p.Val965=)
c.2619G>A (p.Val873=)
n.3194G>A
c.2787G>A (p.Val929=)
c.2601G>A (p.Val867=)
n.3197G>A
c.2892G>A (p.Val964=)
c.2958G>A (p.Val986=)
c.2910G>A (p.Val970=)
c.2775G>A (p.Val925=)
c.2896-122G>A (n.2896-122G>A)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836001G>CCA494868769ATXN2Lc.2964G>C (p.Val988=)
c.939G>C (p.Val313=)
n.3338G>C
c.159G>C (p.Val53=)
c.2982G>C (p.Val994=)
c.2028G>C (n.2028G>C)
c.233G>C
c.942G>C (p.Val314=)
c.484G>C
c.2985G>C (p.Val995=)
c.2967G>C (p.Val989=)
c.2805G>C (p.Val935=)
c.2913G>C (p.Val971=)
c.2895G>C (p.Val965=)
c.2619G>C (p.Val873=)
n.3194G>C
c.2787G>C (p.Val929=)
c.2601G>C (p.Val867=)
n.3197G>C
c.2892G>C (p.Val964=)
c.2958G>C (p.Val986=)
c.2910G>C (p.Val970=)
c.2775G>C (p.Val925=)
c.2896-122G>C (n.2896-122G>C)
16g.28836001G>TCA494868773ATXN2Lc.2964G>T (p.Val988=)
c.939G>T (p.Val313=)
n.3338G>T
c.159G>T (p.Val53=)
c.2982G>T (p.Val994=)
c.2028G>T (n.2028G>T)
c.233G>T
c.942G>T (p.Val314=)
c.484G>T
c.2985G>T (p.Val995=)
c.2967G>T (p.Val989=)
c.2805G>T (p.Val935=)
c.2913G>T (p.Val971=)
c.2895G>T (p.Val965=)
c.2619G>T (p.Val873=)
n.3194G>T
c.2787G>T (p.Val929=)
c.2601G>T (p.Val867=)
n.3197G>T
c.2892G>T (p.Val964=)
c.2958G>T (p.Val986=)
c.2910G>T (p.Val970=)
c.2775G>T (p.Val925=)
c.2896-122G>T (n.2896-122G>T)
16g.28836001_28836002delCA2632529185ATXN2Lc.2964_2965del (p.Met989AlafsTer?)
c.939_940del (p.Met314AlafsTer?)
n.3338_3339del
c.159_160del (p.Met54AlafsTer?)
c.2982_2983del (p.Met995AlafsTer?)
c.2028_2029del (n.2028_2029del)
c.233_234del
c.942_943del (p.Met315AlafsTer?)
c.484_485del
c.2985_2986del (p.Met996AlafsTer?)
c.2967_2968del (p.Met990AlafsTer?)
c.2805_2806del (p.Met936AlafsTer?)
c.2913_2914del (p.Met972AlafsTer?)
c.2895_2896del (p.Met966AlafsTer?)
c.2619_2620del (p.Met874AlafsTer?)
n.3194_3195del
c.2787_2788del (p.Met930AlafsTer?)
c.2601_2602del (p.Met868AlafsTer?)
n.3197_3198del
c.2892_2893del (p.Met965AlafsTer?)
c.2958_2959del (p.Met987AlafsTer?)
c.2910_2911del (p.Met971AlafsTer?)
c.2775_2776del (p.Met926AlafsTer?)
c.2896-122_2896-121del (n.2896-122_2896-121del)
 gnomAD v4
16g.28836002A=CA2215806802ATXN2Lc.2965A= (p.Met989=)
c.940A= (p.Met314=)
n.3339A=
c.160A= (p.Met54=)
c.2983A= (p.Met995=)
c.2029A= (n.2029A=)
c.234A=
c.943A= (p.Met315=)
c.485A=
c.2986A= (p.Met996=)
c.2968A= (p.Met990=)
c.2806A= (p.Met936=)
c.2914A= (p.Met972=)
c.2896A= (p.Met966=)
c.2620A= (p.Met874=)
n.3195A=
c.2788A= (p.Met930=)
c.2602A= (p.Met868=)
n.3198A=
c.2893A= (p.Met965=)
c.2959A= (p.Met987=)
c.2911A= (p.Met971=)
c.2776A= (p.Met926=)
c.2896-121A= (n.2896-121A=)
16g.28836002A>CCA395408990ATXN2Lc.2965A>C (p.Met989Leu)
c.940A>C (p.Met314Leu)
n.3339A>C
c.160A>C (p.Met54Leu)
c.2983A>C (p.Met995Leu)
c.2029A>C (n.2029A>C)
c.234A>C
c.943A>C (p.Met315Leu)
c.485A>C
c.2986A>C (p.Met996Leu)
c.2968A>C (p.Met990Leu)
c.2806A>C (p.Met936Leu)
c.2914A>C (p.Met972Leu)
c.2896A>C (p.Met966Leu)
c.2620A>C (p.Met874Leu)
n.3195A>C
c.2788A>C (p.Met930Leu)
c.2602A>C (p.Met868Leu)
n.3198A>C
c.2893A>C (p.Met965Leu)
c.2959A>C (p.Met987Leu)
c.2911A>C (p.Met971Leu)
c.2776A>C (p.Met926Leu)
c.2896-121A>C (n.2896-121A>C)
16g.28836002A>GCA395408991ATXN2Lc.2965A>G (p.Met989Val)
c.940A>G (p.Met314Val)
n.3339A>G
c.160A>G (p.Met54Val)
c.2983A>G (p.Met995Val)
c.2029A>G (n.2029A>G)
c.234A>G
c.943A>G (p.Met315Val)
c.485A>G
c.2986A>G (p.Met996Val)
c.2968A>G (p.Met990Val)
c.2806A>G (p.Met936Val)
c.2914A>G (p.Met972Val)
c.2896A>G (p.Met966Val)
c.2620A>G (p.Met874Val)
n.3195A>G
c.2788A>G (p.Met930Val)
c.2602A>G (p.Met868Val)
n.3198A>G
c.2893A>G (p.Met965Val)
c.2959A>G (p.Met987Val)
c.2911A>G (p.Met971Val)
c.2776A>G (p.Met926Val)
c.2896-121A>G (n.2896-121A>G)
 dbSNP gnomAD v4
16g.28836002A>TCA395408993ATXN2Lc.2965A>T (p.Met989Leu)
c.940A>T (p.Met314Leu)
n.3339A>T
c.160A>T (p.Met54Leu)
c.2983A>T (p.Met995Leu)
c.2029A>T (n.2029A>T)
c.234A>T
c.943A>T (p.Met315Leu)
c.485A>T
c.2986A>T (p.Met996Leu)
c.2968A>T (p.Met990Leu)
c.2806A>T (p.Met936Leu)
c.2914A>T (p.Met972Leu)
c.2896A>T (p.Met966Leu)
c.2620A>T (p.Met874Leu)
n.3195A>T
c.2788A>T (p.Met930Leu)
c.2602A>T (p.Met868Leu)
n.3198A>T
c.2893A>T (p.Met965Leu)
c.2959A>T (p.Met987Leu)
c.2911A>T (p.Met971Leu)
c.2776A>T (p.Met926Leu)
c.2896-121A>T (n.2896-121A>T)
 gnomAD v3 gnomAD v4
16g.28836003T>ACA395408995ATXN2Lc.2966T>A (p.Met989Lys)
c.941T>A (p.Met314Lys)
n.3340T>A
c.161T>A (p.Met54Lys)
c.2984T>A (p.Met995Lys)
c.2030T>A (n.2030T>A)
c.235T>A
c.944T>A (p.Met315Lys)
c.486T>A
c.2987T>A (p.Met996Lys)
c.2969T>A (p.Met990Lys)
c.2807T>A (p.Met936Lys)
c.2915T>A (p.Met972Lys)
c.2897T>A (p.Met966Lys)
c.2621T>A (p.Met874Lys)
n.3196T>A
c.2789T>A (p.Met930Lys)
c.2603T>A (p.Met868Lys)
n.3199T>A
c.2894T>A (p.Met965Lys)
c.2960T>A (p.Met987Lys)
c.2912T>A (p.Met971Lys)
c.2777T>A (p.Met926Lys)
c.2896-120T>A (n.2896-120T>A)
16g.28836003T>CCA395408997ATXN2Lc.2966T>C (p.Met989Thr)
c.941T>C (p.Met314Thr)
n.3340T>C
c.161T>C (p.Met54Thr)
c.2984T>C (p.Met995Thr)
c.2030T>C (n.2030T>C)
c.235T>C
c.944T>C (p.Met315Thr)
c.486T>C
c.2987T>C (p.Met996Thr)
c.2969T>C (p.Met990Thr)
c.2807T>C (p.Met936Thr)
c.2915T>C (p.Met972Thr)
c.2897T>C (p.Met966Thr)
c.2621T>C (p.Met874Thr)
n.3196T>C
c.2789T>C (p.Met930Thr)
c.2603T>C (p.Met868Thr)
n.3199T>C
c.2894T>C (p.Met965Thr)
c.2960T>C (p.Met987Thr)
c.2912T>C (p.Met971Thr)
c.2777T>C (p.Met926Thr)
c.2896-120T>C (n.2896-120T>C)
16g.28836003T>GCA395408998ATXN2Lc.2966T>G (p.Met989Arg)
c.941T>G (p.Met314Arg)
n.3340T>G
c.161T>G (p.Met54Arg)
c.2984T>G (p.Met995Arg)
c.2030T>G (n.2030T>G)
c.235T>G
c.944T>G (p.Met315Arg)
c.486T>G
c.2987T>G (p.Met996Arg)
c.2969T>G (p.Met990Arg)
c.2807T>G (p.Met936Arg)
c.2915T>G (p.Met972Arg)
c.2897T>G (p.Met966Arg)
c.2621T>G (p.Met874Arg)
n.3196T>G
c.2789T>G (p.Met930Arg)
c.2603T>G (p.Met868Arg)
n.3199T>G
c.2894T>G (p.Met965Arg)
c.2960T>G (p.Met987Arg)
c.2912T>G (p.Met971Arg)
c.2777T>G (p.Met926Arg)
c.2896-120T>G (n.2896-120T>G)
16g.28836004G>ACA395409000ATXN2Lc.2967G>A (p.Met989Ile)
c.942G>A (p.Met314Ile)
n.3341G>A
c.162G>A (p.Met54Ile)
c.2985G>A (p.Met995Ile)
c.2031G>A (n.2031G>A)
c.236G>A
c.945G>A (p.Met315Ile)
c.487G>A
c.2988G>A (p.Met996Ile)
c.2970G>A (p.Met990Ile)
c.2808G>A (p.Met936Ile)
c.2916G>A (p.Met972Ile)
c.2898G>A (p.Met966Ile)
c.2622G>A (p.Met874Ile)
n.3197G>A
c.2790G>A (p.Met930Ile)
c.2604G>A (p.Met868Ile)
n.3200G>A
c.2895G>A (p.Met965Ile)
c.2961G>A (p.Met987Ile)
c.2913G>A (p.Met971Ile)
c.2778G>A (p.Met926Ile)
c.2896-119G>A (n.2896-119G>A)
16g.28836004G>CCA395409004ATXN2Lc.2967G>C (p.Met989Ile)
c.942G>C (p.Met314Ile)
n.3341G>C
c.162G>C (p.Met54Ile)
c.2985G>C (p.Met995Ile)
c.2031G>C (n.2031G>C)
c.236G>C
c.945G>C (p.Met315Ile)
c.487G>C
c.2988G>C (p.Met996Ile)
c.2970G>C (p.Met990Ile)
c.2808G>C (p.Met936Ile)
c.2916G>C (p.Met972Ile)
c.2898G>C (p.Met966Ile)
c.2622G>C (p.Met874Ile)
n.3197G>C
c.2790G>C (p.Met930Ile)
c.2604G>C (p.Met868Ile)
n.3200G>C
c.2895G>C (p.Met965Ile)
c.2961G>C (p.Met987Ile)
c.2913G>C (p.Met971Ile)
c.2778G>C (p.Met926Ile)
c.2896-119G>C (n.2896-119G>C)
16g.28836004G>TCA395409002ATXN2Lc.2967G>T (p.Met989Ile)
c.942G>T (p.Met314Ile)
n.3341G>T
c.162G>T (p.Met54Ile)
c.2985G>T (p.Met995Ile)
c.2031G>T (n.2031G>T)
c.236G>T
c.945G>T (p.Met315Ile)
c.487G>T
c.2988G>T (p.Met996Ile)
c.2970G>T (p.Met990Ile)
c.2808G>T (p.Met936Ile)
c.2916G>T (p.Met972Ile)
c.2898G>T (p.Met966Ile)
c.2622G>T (p.Met874Ile)
n.3197G>T
c.2790G>T (p.Met930Ile)
c.2604G>T (p.Met868Ile)
n.3200G>T
c.2895G>T (p.Met965Ile)
c.2961G>T (p.Met987Ile)
c.2913G>T (p.Met971Ile)
c.2778G>T (p.Met926Ile)
c.2896-119G>T (n.2896-119G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.28836005C>ACA395409006ATXN2Lc.2968C>A (p.Leu990Met)
c.943C>A (p.Leu315Met)
n.3342C>A
c.163C>A (p.Leu55Met)
c.2986C>A (p.Leu996Met)
c.2032C>A (n.2032C>A)
c.237C>A
c.946C>A (p.Leu316Met)
c.488C>A
c.2989C>A (p.Leu997Met)
c.2971C>A (p.Leu991Met)
c.2809C>A (p.Leu937Met)
c.2917C>A (p.Leu973Met)
c.2899C>A (p.Leu967Met)
c.2623C>A (p.Leu875Met)
n.3198C>A
c.2791C>A (p.Leu931Met)
c.2605C>A (p.Leu869Met)
n.3201C>A
c.2896C>A (p.Leu966Met)
c.2962C>A (p.Leu988Met)
c.2914C>A (p.Leu972Met)
c.2779C>A (p.Leu927Met)
c.2896-118C>A (n.2896-118C>A)
16g.28836005C>GCA395409008ATXN2Lc.2968C>G (p.Leu990Val)
c.943C>G (p.Leu315Val)
n.3342C>G
c.163C>G (p.Leu55Val)
c.2986C>G (p.Leu996Val)
c.2032C>G (n.2032C>G)
c.237C>G
c.946C>G (p.Leu316Val)
c.488C>G
c.2989C>G (p.Leu997Val)
c.2971C>G (p.Leu991Val)
c.2809C>G (p.Leu937Val)
c.2917C>G (p.Leu973Val)
c.2899C>G (p.Leu967Val)
c.2623C>G (p.Leu875Val)
n.3198C>G
c.2791C>G (p.Leu931Val)
c.2605C>G (p.Leu869Val)
n.3201C>G
c.2896C>G (p.Leu966Val)
c.2962C>G (p.Leu988Val)
c.2914C>G (p.Leu972Val)
c.2779C>G (p.Leu927Val)
c.2896-118C>G (n.2896-118C>G)
 gnomAD v4
16g.28836005C>TCA494868786ATXN2Lc.2968C>T (p.Leu990=)
c.943C>T (p.Leu315=)
n.3342C>T
c.163C>T (p.Leu55=)
c.2986C>T (p.Leu996=)
c.2032C>T (n.2032C>T)
c.237C>T
c.946C>T (p.Leu316=)
c.488C>T
c.2989C>T (p.Leu997=)
c.2971C>T (p.Leu991=)
c.2809C>T (p.Leu937=)
c.2917C>T (p.Leu973=)
c.2899C>T (p.Leu967=)
c.2623C>T (p.Leu875=)
n.3198C>T
c.2791C>T (p.Leu931=)
c.2605C>T (p.Leu869=)
n.3201C>T
c.2896C>T (p.Leu966=)
c.2962C>T (p.Leu988=)
c.2914C>T (p.Leu972=)
c.2779C>T (p.Leu927=)
c.2896-118C>T (n.2896-118C>T)
 gnomAD v4 COSMIC COSMIC
16g.28836006T>ACA395409010ATXN2Lc.2969T>A (p.Leu990Gln)
c.944T>A (p.Leu315Gln)
n.3343T>A
c.164T>A (p.Leu55Gln)
c.2987T>A (p.Leu996Gln)
c.2033T>A (n.2033T>A)
c.238T>A
c.947T>A (p.Leu316Gln)
c.489T>A
c.2990T>A (p.Leu997Gln)
c.2972T>A (p.Leu991Gln)
c.2810T>A (p.Leu937Gln)
c.2918T>A (p.Leu973Gln)
c.2900T>A (p.Leu967Gln)
c.2624T>A (p.Leu875Gln)
n.3199T>A
c.2792T>A (p.Leu931Gln)
c.2606T>A (p.Leu869Gln)
n.3202T>A
c.2897T>A (p.Leu966Gln)
c.2963T>A (p.Leu988Gln)
c.2915T>A (p.Leu972Gln)
c.2780T>A (p.Leu927Gln)
c.2896-117T>A (n.2896-117T>A)
 gnomAD v4
16g.28836006T>CCA395409012ATXN2Lc.2969T>C (p.Leu990Pro)
c.944T>C (p.Leu315Pro)
n.3343T>C
c.164T>C (p.Leu55Pro)
c.2987T>C (p.Leu996Pro)
c.2033T>C (n.2033T>C)
c.238T>C
c.947T>C (p.Leu316Pro)
c.489T>C
c.2990T>C (p.Leu997Pro)
c.2972T>C (p.Leu991Pro)
c.2810T>C (p.Leu937Pro)
c.2918T>C (p.Leu973Pro)
c.2900T>C (p.Leu967Pro)
c.2624T>C (p.Leu875Pro)
n.3199T>C
c.2792T>C (p.Leu931Pro)
c.2606T>C (p.Leu869Pro)
n.3202T>C
c.2897T>C (p.Leu966Pro)
c.2963T>C (p.Leu988Pro)
c.2915T>C (p.Leu972Pro)
c.2780T>C (p.Leu927Pro)
c.2896-117T>C (n.2896-117T>C)
16g.28836006T>GCA395409013ATXN2Lc.2969T>G (p.Leu990Arg)
c.944T>G (p.Leu315Arg)
n.3343T>G
c.164T>G (p.Leu55Arg)
c.2987T>G (p.Leu996Arg)
c.2033T>G (n.2033T>G)
c.238T>G
c.947T>G (p.Leu316Arg)
c.489T>G
c.2990T>G (p.Leu997Arg)
c.2972T>G (p.Leu991Arg)
c.2810T>G (p.Leu937Arg)
c.2918T>G (p.Leu973Arg)
c.2900T>G (p.Leu967Arg)
c.2624T>G (p.Leu875Arg)
n.3199T>G
c.2792T>G (p.Leu931Arg)
c.2606T>G (p.Leu869Arg)
n.3202T>G
c.2897T>G (p.Leu966Arg)
c.2963T>G (p.Leu988Arg)
c.2915T>G (p.Leu972Arg)
c.2780T>G (p.Leu927Arg)
c.2896-117T>G (n.2896-117T>G)
 gnomAD v4
16g.28836007G>ACA494868797ATXN2Lc.2970G>A (p.Leu990=)
c.945G>A (p.Leu315=)
n.3344G>A
c.165G>A (p.Leu55=)
c.2988G>A (p.Leu996=)
c.2034G>A (n.2034G>A)
c.239G>A
c.948G>A (p.Leu316=)
c.490G>A
c.2991G>A (p.Leu997=)
c.2973G>A (p.Leu991=)
c.2811G>A (p.Leu937=)
c.2919G>A (p.Leu973=)
c.2901G>A (p.Leu967=)
c.2625G>A (p.Leu875=)
n.3200G>A
c.2793G>A (p.Leu931=)
c.2607G>A (p.Leu869=)
n.3203G>A
c.2898G>A (p.Leu966=)
c.2964G>A (p.Leu988=)
c.2916G>A (p.Leu972=)
c.2781G>A (p.Leu927=)
c.2896-116G>A (n.2896-116G>A)
16g.28836007G>CCA494868802ATXN2Lc.2970G>C (p.Leu990=)
c.945G>C (p.Leu315=)
n.3344G>C
c.165G>C (p.Leu55=)
c.2988G>C (p.Leu996=)
c.2034G>C (n.2034G>C)
c.239G>C
c.948G>C (p.Leu316=)
c.490G>C
c.2991G>C (p.Leu997=)
c.2973G>C (p.Leu991=)
c.2811G>C (p.Leu937=)
c.2919G>C (p.Leu973=)
c.2901G>C (p.Leu967=)
c.2625G>C (p.Leu875=)
n.3200G>C
c.2793G>C (p.Leu931=)
c.2607G>C (p.Leu869=)
n.3203G>C
c.2898G>C (p.Leu966=)
c.2964G>C (p.Leu988=)
c.2916G>C (p.Leu972=)
c.2781G>C (p.Leu927=)
c.2896-116G>C (n.2896-116G>C)
16g.28836007G>TCA494868804ATXN2Lc.2970G>T (p.Leu990=)
c.945G>T (p.Leu315=)
n.3344G>T
c.165G>T (p.Leu55=)
c.2988G>T (p.Leu996=)
c.2034G>T (n.2034G>T)
c.239G>T
c.948G>T (p.Leu316=)
c.490G>T
c.2991G>T (p.Leu997=)
c.2973G>T (p.Leu991=)
c.2811G>T (p.Leu937=)
c.2919G>T (p.Leu973=)
c.2901G>T (p.Leu967=)
c.2625G>T (p.Leu875=)
n.3200G>T
c.2793G>T (p.Leu931=)
c.2607G>T (p.Leu869=)
n.3203G>T
c.2898G>T (p.Leu966=)
c.2964G>T (p.Leu988=)
c.2916G>T (p.Leu972=)
c.2781G>T (p.Leu927=)
c.2896-116G>T (n.2896-116G>T)
16g.28836008C>ACA395409016ATXN2Lc.2971C>A (p.Leu991Met)
c.946C>A (p.Leu316Met)
n.3345C>A
c.166C>A (p.Leu56Met)
c.2989C>A (p.Leu997Met)
c.2035C>A (n.2035C>A)
c.240C>A
c.949C>A (p.Leu317Met)
c.491C>A
c.2992C>A (p.Leu998Met)
c.2974C>A (p.Leu992Met)
c.2812C>A (p.Leu938Met)
c.2920C>A (p.Leu974Met)
c.2902C>A (p.Leu968Met)
c.2626C>A (p.Leu876Met)
n.3201C>A
c.2794C>A (p.Leu932Met)
c.2608C>A (p.Leu870Met)
n.3204C>A
c.2899C>A (p.Leu967Met)
c.2965C>A (p.Leu989Met)
c.2917C>A (p.Leu973Met)
c.2782C>A (p.Leu928Met)
c.2896-115C>A (n.2896-115C>A)
16g.28836008C=CA2215806804ATXN2Lc.2971C= (p.Leu991=)
c.946C= (p.Leu316=)
n.3345C=
c.166C= (p.Leu56=)
c.2989C= (p.Leu997=)
c.2035C= (n.2035C=)
c.240C=
c.949C= (p.Leu317=)
c.491C=
c.2992C= (p.Leu998=)
c.2974C= (p.Leu992=)
c.2812C= (p.Leu938=)
c.2920C= (p.Leu974=)
c.2902C= (p.Leu968=)
c.2626C= (p.Leu876=)
n.3201C=
c.2794C= (p.Leu932=)
c.2608C= (p.Leu870=)
n.3204C=
c.2899C= (p.Leu967=)
c.2965C= (p.Leu989=)
c.2917C= (p.Leu973=)
c.2782C= (p.Leu928=)
c.2896-115C= (n.2896-115C=)
16g.28836008C>GCA395409017ATXN2Lc.2971C>G (p.Leu991Val)
c.946C>G (p.Leu316Val)
n.3345C>G
c.166C>G (p.Leu56Val)
c.2989C>G (p.Leu997Val)
c.2035C>G (n.2035C>G)
c.240C>G
c.949C>G (p.Leu317Val)
c.491C>G
c.2992C>G (p.Leu998Val)
c.2974C>G (p.Leu992Val)
c.2812C>G (p.Leu938Val)
c.2920C>G (p.Leu974Val)
c.2902C>G (p.Leu968Val)
c.2626C>G (p.Leu876Val)
n.3201C>G
c.2794C>G (p.Leu932Val)
c.2608C>G (p.Leu870Val)
n.3204C>G
c.2899C>G (p.Leu967Val)
c.2965C>G (p.Leu989Val)
c.2917C>G (p.Leu973Val)
c.2782C>G (p.Leu928Val)
c.2896-115C>G (n.2896-115C>G)
16g.28836008C>TCA494868809ATXN2Lc.2971C>T (p.Leu991=)
c.946C>T (p.Leu316=)
n.3345C>T
c.166C>T (p.Leu56=)
c.2989C>T (p.Leu997=)
c.2035C>T (n.2035C>T)
c.240C>T
c.949C>T (p.Leu317=)
c.491C>T
c.2992C>T (p.Leu998=)
c.2974C>T (p.Leu992=)
c.2812C>T (p.Leu938=)
c.2920C>T (p.Leu974=)
c.2902C>T (p.Leu968=)
c.2626C>T (p.Leu876=)
n.3201C>T
c.2794C>T (p.Leu932=)
c.2608C>T (p.Leu870=)
n.3204C>T
c.2899C>T (p.Leu967=)
c.2965C>T (p.Leu989=)
c.2917C>T (p.Leu973=)
c.2782C>T (p.Leu928=)
c.2896-115C>T (n.2896-115C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836009T>ACA395409019ATXN2Lc.2972T>A (p.Leu991Gln)
c.947T>A (p.Leu316Gln)
n.3346T>A
c.167T>A (p.Leu56Gln)
c.2990T>A (p.Leu997Gln)
c.2036T>A (n.2036T>A)
c.241T>A
c.950T>A (p.Leu317Gln)
c.492T>A
c.2993T>A (p.Leu998Gln)
c.2975T>A (p.Leu992Gln)
c.2813T>A (p.Leu938Gln)
c.2921T>A (p.Leu974Gln)
c.2903T>A (p.Leu968Gln)
c.2627T>A (p.Leu876Gln)
n.3202T>A
c.2795T>A (p.Leu932Gln)
c.2609T>A (p.Leu870Gln)
n.3205T>A
c.2900T>A (p.Leu967Gln)
c.2966T>A (p.Leu989Gln)
c.2918T>A (p.Leu973Gln)
c.2783T>A (p.Leu928Gln)
c.2896-114T>A (n.2896-114T>A)
 gnomAD v4
16g.28836009T>CCA395409021ATXN2Lc.2972T>C (p.Leu991Pro)
c.947T>C (p.Leu316Pro)
n.3346T>C
c.167T>C (p.Leu56Pro)
c.2990T>C (p.Leu997Pro)
c.2036T>C (n.2036T>C)
c.241T>C
c.950T>C (p.Leu317Pro)
c.492T>C
c.2993T>C (p.Leu998Pro)
c.2975T>C (p.Leu992Pro)
c.2813T>C (p.Leu938Pro)
c.2921T>C (p.Leu974Pro)
c.2903T>C (p.Leu968Pro)
c.2627T>C (p.Leu876Pro)
n.3202T>C
c.2795T>C (p.Leu932Pro)
c.2609T>C (p.Leu870Pro)
n.3205T>C
c.2900T>C (p.Leu967Pro)
c.2966T>C (p.Leu989Pro)
c.2918T>C (p.Leu973Pro)
c.2783T>C (p.Leu928Pro)
c.2896-114T>C (n.2896-114T>C)
16g.28836009T>GCA395409023ATXN2Lc.2972T>G (p.Leu991Arg)
c.947T>G (p.Leu316Arg)
n.3346T>G
c.167T>G (p.Leu56Arg)
c.2990T>G (p.Leu997Arg)
c.2036T>G (n.2036T>G)
c.241T>G
c.950T>G (p.Leu317Arg)
c.492T>G
c.2993T>G (p.Leu998Arg)
c.2975T>G (p.Leu992Arg)
c.2813T>G (p.Leu938Arg)
c.2921T>G (p.Leu974Arg)
c.2903T>G (p.Leu968Arg)
c.2627T>G (p.Leu876Arg)
n.3202T>G
c.2795T>G (p.Leu932Arg)
c.2609T>G (p.Leu870Arg)
n.3205T>G
c.2900T>G (p.Leu967Arg)
c.2966T>G (p.Leu989Arg)
c.2918T>G (p.Leu973Arg)
c.2783T>G (p.Leu928Arg)
c.2896-114T>G (n.2896-114T>G)
16g.28836010G>ACA494868819ATXN2Lc.2973G>A (p.Leu991=)
c.948G>A (p.Leu316=)
n.3347G>A
c.168G>A (p.Leu56=)
c.2991G>A (p.Leu997=)
c.2037G>A (n.2037G>A)
c.242G>A
c.951G>A (p.Leu317=)
c.493G>A
c.2994G>A (p.Leu998=)
c.2976G>A (p.Leu992=)
c.2814G>A (p.Leu938=)
c.2922G>A (p.Leu974=)
c.2904G>A (p.Leu968=)
c.2628G>A (p.Leu876=)
n.3203G>A
c.2796G>A (p.Leu932=)
c.2610G>A (p.Leu870=)
n.3206G>A
c.2901G>A (p.Leu967=)
c.2967G>A (p.Leu989=)
c.2919G>A (p.Leu973=)
c.2784G>A (p.Leu928=)
c.2896-113G>A (n.2896-113G>A)
 gnomAD v4
16g.28836010G>CCA494868827ATXN2Lc.2973G>C (p.Leu991=)
c.948G>C (p.Leu316=)
n.3347G>C
c.168G>C (p.Leu56=)
c.2991G>C (p.Leu997=)
c.2037G>C (n.2037G>C)
c.242G>C
c.951G>C (p.Leu317=)
c.493G>C
c.2994G>C (p.Leu998=)
c.2976G>C (p.Leu992=)
c.2814G>C (p.Leu938=)
c.2922G>C (p.Leu974=)
c.2904G>C (p.Leu968=)
c.2628G>C (p.Leu876=)
n.3203G>C
c.2796G>C (p.Leu932=)
c.2610G>C (p.Leu870=)
n.3206G>C
c.2901G>C (p.Leu967=)
c.2967G>C (p.Leu989=)
c.2919G>C (p.Leu973=)
c.2784G>C (p.Leu928=)
c.2896-113G>C (n.2896-113G>C)
 dbSNP gnomAD v4
16g.28836010G=CA2215806805ATXN2Lc.2973G= (p.Leu991=)
c.948G= (p.Leu316=)
n.3347G=
c.168G= (p.Leu56=)
c.2991G= (p.Leu997=)
c.2037G= (n.2037G=)
c.242G=
c.951G= (p.Leu317=)
c.493G=
c.2994G= (p.Leu998=)
c.2976G= (p.Leu992=)
c.2814G= (p.Leu938=)
c.2922G= (p.Leu974=)
c.2904G= (p.Leu968=)
c.2628G= (p.Leu876=)
n.3203G=
c.2796G= (p.Leu932=)
c.2610G= (p.Leu870=)
n.3206G=
c.2901G= (p.Leu967=)
c.2967G= (p.Leu989=)
c.2919G= (p.Leu973=)
c.2784G= (p.Leu928=)
c.2896-113G= (n.2896-113G=)
16g.28836010G>TCA494868828ATXN2Lc.2973G>T (p.Leu991=)
c.948G>T (p.Leu316=)
n.3347G>T
c.168G>T (p.Leu56=)
c.2991G>T (p.Leu997=)
c.2037G>T (n.2037G>T)
c.242G>T
c.951G>T (p.Leu317=)
c.493G>T
c.2994G>T (p.Leu998=)
c.2976G>T (p.Leu992=)
c.2814G>T (p.Leu938=)
c.2922G>T (p.Leu974=)
c.2904G>T (p.Leu968=)
c.2628G>T (p.Leu876=)
n.3203G>T
c.2796G>T (p.Leu932=)
c.2610G>T (p.Leu870=)
n.3206G>T
c.2901G>T (p.Leu967=)
c.2967G>T (p.Leu989=)
c.2919G>T (p.Leu973=)
c.2784G>T (p.Leu928=)
c.2896-113G>T (n.2896-113G>T)
16g.28836011C>ACA395409026ATXN2Lc.2974C>A (p.His992Asn)
c.949C>A (p.His317Asn)
n.3348C>A
c.169C>A (p.His57Asn)
c.2992C>A (p.His998Asn)
c.2038C>A (n.2038C>A)
c.243C>A
c.952C>A (p.His318Asn)
c.494C>A
c.2995C>A (p.His999Asn)
c.2977C>A (p.His993Asn)
c.2815C>A (p.His939Asn)
c.2923C>A (p.His975Asn)
c.2905C>A (p.His969Asn)
c.2629C>A (p.His877Asn)
n.3204C>A
c.2797C>A (p.His933Asn)
c.2611C>A (p.His871Asn)
n.3207C>A
c.2902C>A (p.His968Asn)
c.2968C>A (p.His990Asn)
c.2920C>A (p.His974Asn)
c.2785C>A (p.His929Asn)
c.2896-112C>A (n.2896-112C>A)
 gnomAD v4
16g.28836011C>GCA395409028ATXN2Lc.2974C>G (p.His992Asp)
c.949C>G (p.His317Asp)
n.3348C>G
c.169C>G (p.His57Asp)
c.2992C>G (p.His998Asp)
c.2038C>G (n.2038C>G)
c.243C>G
c.952C>G (p.His318Asp)
c.494C>G
c.2995C>G (p.His999Asp)
c.2977C>G (p.His993Asp)
c.2815C>G (p.His939Asp)
c.2923C>G (p.His975Asp)
c.2905C>G (p.His969Asp)
c.2629C>G (p.His877Asp)
n.3204C>G
c.2797C>G (p.His933Asp)
c.2611C>G (p.His871Asp)
n.3207C>G
c.2902C>G (p.His968Asp)
c.2968C>G (p.His990Asp)
c.2920C>G (p.His974Asp)
c.2785C>G (p.His929Asp)
c.2896-112C>G (n.2896-112C>G)
16g.28836011C>TCA395409025ATXN2Lc.2974C>T (p.His992Tyr)
c.949C>T (p.His317Tyr)
n.3348C>T
c.169C>T (p.His57Tyr)
c.2992C>T (p.His998Tyr)
c.2038C>T (n.2038C>T)
c.243C>T
c.952C>T (p.His318Tyr)
c.494C>T
c.2995C>T (p.His999Tyr)
c.2977C>T (p.His993Tyr)
c.2815C>T (p.His939Tyr)
c.2923C>T (p.His975Tyr)
c.2905C>T (p.His969Tyr)
c.2629C>T (p.His877Tyr)
n.3204C>T
c.2797C>T (p.His933Tyr)
c.2611C>T (p.His871Tyr)
n.3207C>T
c.2902C>T (p.His968Tyr)
c.2968C>T (p.His990Tyr)
c.2920C>T (p.His974Tyr)
c.2785C>T (p.His929Tyr)
c.2896-112C>T (n.2896-112C>T)
 gnomAD v4
16g.28836012A>CCA395409031ATXN2Lc.2975A>C (p.His992Pro)
c.950A>C (p.His317Pro)
n.3349A>C
c.170A>C (p.His57Pro)
c.2993A>C (p.His998Pro)
c.2039A>C (n.2039A>C)
c.244A>C
c.953A>C (p.His318Pro)
c.495A>C
c.2996A>C (p.His999Pro)
c.2978A>C (p.His993Pro)
c.2816A>C (p.His939Pro)
c.2924A>C (p.His975Pro)
c.2906A>C (p.His969Pro)
c.2630A>C (p.His877Pro)
n.3205A>C
c.2798A>C (p.His933Pro)
c.2612A>C (p.His871Pro)
n.3208A>C
c.2903A>C (p.His968Pro)
c.2969A>C (p.His990Pro)
c.2921A>C (p.His974Pro)
c.2786A>C (p.His929Pro)
c.2896-111A>C (n.2896-111A>C)
16g.28836012A>GCA395409032ATXN2Lc.2975A>G (p.His992Arg)
c.950A>G (p.His317Arg)
n.3349A>G
c.170A>G (p.His57Arg)
c.2993A>G (p.His998Arg)
c.2039A>G (n.2039A>G)
c.244A>G
c.953A>G (p.His318Arg)
c.495A>G
c.2996A>G (p.His999Arg)
c.2978A>G (p.His993Arg)
c.2816A>G (p.His939Arg)
c.2924A>G (p.His975Arg)
c.2906A>G (p.His969Arg)
c.2630A>G (p.His877Arg)
n.3205A>G
c.2798A>G (p.His933Arg)
c.2612A>G (p.His871Arg)
n.3208A>G
c.2903A>G (p.His968Arg)
c.2969A>G (p.His990Arg)
c.2921A>G (p.His974Arg)
c.2786A>G (p.His929Arg)
c.2896-111A>G (n.2896-111A>G)
 gnomAD v4
16g.28836012A>TCA395409034ATXN2Lc.2975A>T (p.His992Leu)
c.950A>T (p.His317Leu)
n.3349A>T
c.170A>T (p.His57Leu)
c.2993A>T (p.His998Leu)
c.2039A>T (n.2039A>T)
c.244A>T
c.953A>T (p.His318Leu)
c.495A>T
c.2996A>T (p.His999Leu)
c.2978A>T (p.His993Leu)
c.2816A>T (p.His939Leu)
c.2924A>T (p.His975Leu)
c.2906A>T (p.His969Leu)
c.2630A>T (p.His877Leu)
n.3205A>T
c.2798A>T (p.His933Leu)
c.2612A>T (p.His871Leu)
n.3208A>T
c.2903A>T (p.His968Leu)
c.2969A>T (p.His990Leu)
c.2921A>T (p.His974Leu)
c.2786A>T (p.His929Leu)
c.2896-111A>T (n.2896-111A>T)
16g.28836013C>ACA395409037ATXN2Lc.2976C>A (p.His992Gln)
c.951C>A (p.His317Gln)
n.3350C>A
c.171C>A (p.His57Gln)
c.2994C>A (p.His998Gln)
c.2040C>A (n.2040C>A)
c.245C>A
c.954C>A (p.His318Gln)
c.496C>A
c.2997C>A (p.His999Gln)
c.2979C>A (p.His993Gln)
c.2817C>A (p.His939Gln)
c.2925C>A (p.His975Gln)
c.2907C>A (p.His969Gln)
c.2631C>A (p.His877Gln)
n.3206C>A
c.2799C>A (p.His933Gln)
c.2613C>A (p.His871Gln)
n.3209C>A
c.2904C>A (p.His968Gln)
c.2970C>A (p.His990Gln)
c.2922C>A (p.His974Gln)
c.2787C>A (p.His929Gln)
c.2896-110C>A (n.2896-110C>A)
16g.28836013C>GCA395409038ATXN2Lc.2976C>G (p.His992Gln)
c.951C>G (p.His317Gln)
n.3350C>G
c.171C>G (p.His57Gln)
c.2994C>G (p.His998Gln)
c.2040C>G (n.2040C>G)
c.245C>G
c.954C>G (p.His318Gln)
c.496C>G
c.2997C>G (p.His999Gln)
c.2979C>G (p.His993Gln)
c.2817C>G (p.His939Gln)
c.2925C>G (p.His975Gln)
c.2907C>G (p.His969Gln)
c.2631C>G (p.His877Gln)
n.3206C>G
c.2799C>G (p.His933Gln)
c.2613C>G (p.His871Gln)
n.3209C>G
c.2904C>G (p.His968Gln)
c.2970C>G (p.His990Gln)
c.2922C>G (p.His974Gln)
c.2787C>G (p.His929Gln)
c.2896-110C>G (n.2896-110C>G)
16g.28836013C>TCA494868850ATXN2Lc.2976C>T (p.His992=)
c.951C>T (p.His317=)
n.3350C>T
c.171C>T (p.His57=)
c.2994C>T (p.His998=)
c.2040C>T (n.2040C>T)
c.245C>T
c.954C>T (p.His318=)
c.496C>T
c.2997C>T (p.His999=)
c.2979C>T (p.His993=)
c.2817C>T (p.His939=)
c.2925C>T (p.His975=)
c.2907C>T (p.His969=)
c.2631C>T (p.His877=)
n.3206C>T
c.2799C>T (p.His933=)
c.2613C>T (p.His871=)
n.3209C>T
c.2904C>T (p.His968=)
c.2970C>T (p.His990=)
c.2922C>T (p.His974=)
c.2787C>T (p.His929=)
c.2896-110C>T (n.2896-110C>T)
16g.28836014C>ACA395409044ATXN2Lc.2977C>A (p.Pro993Thr)
c.952C>A (p.Pro318Thr)
n.3351C>A
c.172C>A (p.Pro58Thr)
c.2995C>A (p.Pro999Thr)
c.2041C>A (n.2041C>A)
c.246C>A
c.955C>A (p.Pro319Thr)
c.497C>A
c.2998C>A (p.Pro1000Thr)
c.2980C>A (p.Pro994Thr)
c.2818C>A (p.Pro940Thr)
c.2926C>A (p.Pro976Thr)
c.2908C>A (p.Pro970Thr)
c.2632C>A (p.Pro878Thr)
n.3207C>A
c.2800C>A (p.Pro934Thr)
c.2614C>A (p.Pro872Thr)
n.3210C>A
c.2905C>A (p.Pro969Thr)
c.2971C>A (p.Pro991Thr)
c.2923C>A (p.Pro975Thr)
c.2788C>A (p.Pro930Thr)
c.2896-109C>A (n.2896-109C>A)
16g.28836014C=CA2215806806ATXN2Lc.2977C= (p.Pro993=)
c.952C= (p.Pro318=)
n.3351C=
c.172C= (p.Pro58=)
c.2995C= (p.Pro999=)
c.2041C= (n.2041C=)
c.246C=
c.955C= (p.Pro319=)
c.497C=
c.2998C= (p.Pro1000=)
c.2980C= (p.Pro994=)
c.2818C= (p.Pro940=)
c.2926C= (p.Pro976=)
c.2908C= (p.Pro970=)
c.2632C= (p.Pro878=)
n.3207C=
c.2800C= (p.Pro934=)
c.2614C= (p.Pro872=)
n.3210C=
c.2905C= (p.Pro969=)
c.2971C= (p.Pro991=)
c.2923C= (p.Pro975=)
c.2788C= (p.Pro930=)
c.2896-109C= (n.2896-109C=)
16g.28836014C>GCA395409043ATXN2Lc.2977C>G (p.Pro993Ala)
c.952C>G (p.Pro318Ala)
n.3351C>G
c.172C>G (p.Pro58Ala)
c.2995C>G (p.Pro999Ala)
c.2041C>G (n.2041C>G)
c.246C>G
c.955C>G (p.Pro319Ala)
c.497C>G
c.2998C>G (p.Pro1000Ala)
c.2980C>G (p.Pro994Ala)
c.2818C>G (p.Pro940Ala)
c.2926C>G (p.Pro976Ala)
c.2908C>G (p.Pro970Ala)
c.2632C>G (p.Pro878Ala)
n.3207C>G
c.2800C>G (p.Pro934Ala)
c.2614C>G (p.Pro872Ala)
n.3210C>G
c.2905C>G (p.Pro969Ala)
c.2971C>G (p.Pro991Ala)
c.2923C>G (p.Pro975Ala)
c.2788C>G (p.Pro930Ala)
c.2896-109C>G (n.2896-109C>G)
 dbSNP
16g.28836014C>TCA395409041ATXN2Lc.2977C>T (p.Pro993Ser)
c.952C>T (p.Pro318Ser)
n.3351C>T
c.172C>T (p.Pro58Ser)
c.2995C>T (p.Pro999Ser)
c.2041C>T (n.2041C>T)
c.246C>T
c.955C>T (p.Pro319Ser)
c.497C>T
c.2998C>T (p.Pro1000Ser)
c.2980C>T (p.Pro994Ser)
c.2818C>T (p.Pro940Ser)
c.2926C>T (p.Pro976Ser)
c.2908C>T (p.Pro970Ser)
c.2632C>T (p.Pro878Ser)
n.3207C>T
c.2800C>T (p.Pro934Ser)
c.2614C>T (p.Pro872Ser)
n.3210C>T
c.2905C>T (p.Pro969Ser)
c.2971C>T (p.Pro991Ser)
c.2923C>T (p.Pro975Ser)
c.2788C>T (p.Pro930Ser)
c.2896-109C>T (n.2896-109C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.28836015C>ACA395409047ATXN2Lc.2978C>A (p.Pro993Gln)
c.953C>A (p.Pro318Gln)
n.3352C>A
c.173C>A (p.Pro58Gln)
c.2996C>A (p.Pro999Gln)
c.2042C>A (n.2042C>A)
c.247C>A
c.956C>A (p.Pro319Gln)
c.498C>A
c.2999C>A (p.Pro1000Gln)
c.2981C>A (p.Pro994Gln)
c.2819C>A (p.Pro940Gln)
c.2927C>A (p.Pro976Gln)
c.2909C>A (p.Pro970Gln)
c.2633C>A (p.Pro878Gln)
n.3208C>A
c.2801C>A (p.Pro934Gln)
c.2615C>A (p.Pro872Gln)
n.3211C>A
c.2906C>A (p.Pro969Gln)
c.2972C>A (p.Pro991Gln)
c.2924C>A (p.Pro975Gln)
c.2789C>A (p.Pro930Gln)
c.2896-108C>A (n.2896-108C>A)
16g.28836015C=CA2215806807ATXN2Lc.2978C= (p.Pro993=)
c.953C= (p.Pro318=)
n.3352C=
c.173C= (p.Pro58=)
c.2996C= (p.Pro999=)
c.2042C= (n.2042C=)
c.247C=
c.956C= (p.Pro319=)
c.498C=
c.2999C= (p.Pro1000=)
c.2981C= (p.Pro994=)
c.2819C= (p.Pro940=)
c.2927C= (p.Pro976=)
c.2909C= (p.Pro970=)
c.2633C= (p.Pro878=)
n.3208C=
c.2801C= (p.Pro934=)
c.2615C= (p.Pro872=)
n.3211C=
c.2906C= (p.Pro969=)
c.2972C= (p.Pro991=)
c.2924C= (p.Pro975=)
c.2789C= (p.Pro930=)
c.2896-108C= (n.2896-108C=)
16g.28836015C>GCA395409048ATXN2Lc.2978C>G (p.Pro993Arg)
c.953C>G (p.Pro318Arg)
n.3352C>G
c.173C>G (p.Pro58Arg)
c.2996C>G (p.Pro999Arg)
c.2042C>G (n.2042C>G)
c.247C>G
c.956C>G (p.Pro319Arg)
c.498C>G
c.2999C>G (p.Pro1000Arg)
c.2981C>G (p.Pro994Arg)
c.2819C>G (p.Pro940Arg)
c.2927C>G (p.Pro976Arg)
c.2909C>G (p.Pro970Arg)
c.2633C>G (p.Pro878Arg)
n.3208C>G
c.2801C>G (p.Pro934Arg)
c.2615C>G (p.Pro872Arg)
n.3211C>G
c.2906C>G (p.Pro969Arg)
c.2972C>G (p.Pro991Arg)
c.2924C>G (p.Pro975Arg)
c.2789C>G (p.Pro930Arg)
c.2896-108C>G (n.2896-108C>G)
 dbSNP
16g.28836015C>TCA395409050ATXN2Lc.2978C>T (p.Pro993Leu)
c.953C>T (p.Pro318Leu)
n.3352C>T
c.173C>T (p.Pro58Leu)
c.2996C>T (p.Pro999Leu)
c.2042C>T (n.2042C>T)
c.247C>T
c.956C>T (p.Pro319Leu)
c.498C>T
c.2999C>T (p.Pro1000Leu)
c.2981C>T (p.Pro994Leu)
c.2819C>T (p.Pro940Leu)
c.2927C>T (p.Pro976Leu)
c.2909C>T (p.Pro970Leu)
c.2633C>T (p.Pro878Leu)
n.3208C>T
c.2801C>T (p.Pro934Leu)
c.2615C>T (p.Pro872Leu)
n.3211C>T
c.2906C>T (p.Pro969Leu)
c.2972C>T (p.Pro991Leu)
c.2924C>T (p.Pro975Leu)
c.2789C>T (p.Pro930Leu)
c.2896-108C>T (n.2896-108C>T)
16g.28836016A=CA2215806809ATXN2Lc.2979A= (p.Pro993=)
c.954A= (p.Pro318=)
n.3353A=
c.174A= (p.Pro58=)
c.2997A= (p.Pro999=)
c.2043A= (n.2043A=)
c.248A=
c.957A= (p.Pro319=)
c.499A=
c.3000A= (p.Pro1000=)
c.2982A= (p.Pro994=)
c.2820A= (p.Pro940=)
c.2928A= (p.Pro976=)
c.2910A= (p.Pro970=)
c.2634A= (p.Pro878=)
n.3209A=
c.2802A= (p.Pro934=)
c.2616A= (p.Pro872=)
n.3212A=
c.2907A= (p.Pro969=)
c.2973A= (p.Pro991=)
c.2925A= (p.Pro975=)
c.2790A= (p.Pro930=)
c.2896-107A= (n.2896-107A=)
16g.28836016A>CCA494868877ATXN2Lc.2979A>C (p.Pro993=)
c.954A>C (p.Pro318=)
n.3353A>C
c.174A>C (p.Pro58=)
c.2997A>C (p.Pro999=)
c.2043A>C (n.2043A>C)
c.248A>C
c.957A>C (p.Pro319=)
c.499A>C
c.3000A>C (p.Pro1000=)
c.2982A>C (p.Pro994=)
c.2820A>C (p.Pro940=)
c.2928A>C (p.Pro976=)
c.2910A>C (p.Pro970=)
c.2634A>C (p.Pro878=)
n.3209A>C
c.2802A>C (p.Pro934=)
c.2616A>C (p.Pro872=)
n.3212A>C
c.2907A>C (p.Pro969=)
c.2973A>C (p.Pro991=)
c.2925A>C (p.Pro975=)
c.2790A>C (p.Pro930=)
c.2896-107A>C (n.2896-107A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28836016A>GCA494868880ATXN2Lc.2979A>G (p.Pro993=)
c.954A>G (p.Pro318=)
n.3353A>G
c.174A>G (p.Pro58=)
c.2997A>G (p.Pro999=)
c.2043A>G (n.2043A>G)
c.248A>G
c.957A>G (p.Pro319=)
c.499A>G
c.3000A>G (p.Pro1000=)
c.2982A>G (p.Pro994=)
c.2820A>G (p.Pro940=)
c.2928A>G (p.Pro976=)
c.2910A>G (p.Pro970=)
c.2634A>G (p.Pro878=)
n.3209A>G
c.2802A>G (p.Pro934=)
c.2616A>G (p.Pro872=)
n.3212A>G
c.2907A>G (p.Pro969=)
c.2973A>G (p.Pro991=)
c.2925A>G (p.Pro975=)
c.2790A>G (p.Pro930=)
c.2896-107A>G (n.2896-107A>G)
16g.28836016A>TCA494868885ATXN2Lc.2979A>T (p.Pro993=)
c.954A>T (p.Pro318=)
n.3353A>T
c.174A>T (p.Pro58=)
c.2997A>T (p.Pro999=)
c.2043A>T (n.2043A>T)
c.248A>T
c.957A>T (p.Pro319=)
c.499A>T
c.3000A>T (p.Pro1000=)
c.2982A>T (p.Pro994=)
c.2820A>T (p.Pro940=)
c.2928A>T (p.Pro976=)
c.2910A>T (p.Pro970=)
c.2634A>T (p.Pro878=)
n.3209A>T
c.2802A>T (p.Pro934=)
c.2616A>T (p.Pro872=)
n.3212A>T
c.2907A>T (p.Pro969=)
c.2973A>T (p.Pro991=)
c.2925A>T (p.Pro975=)
c.2790A>T (p.Pro930=)
c.2896-107A>T (n.2896-107A>T)
16g.28836017C>ACA395409051ATXN2Lc.2980C>A (p.Pro994Thr)
c.955C>A (p.Pro319Thr)
n.3354C>A
c.175C>A (p.Pro59Thr)
c.2998C>A (p.Pro1000Thr)
c.2044C>A (n.2044C>A)
c.249C>A
c.958C>A (p.Pro320Thr)
c.500C>A
c.3001C>A (p.Pro1001Thr)
c.2983C>A (p.Pro995Thr)
c.2821C>A (p.Pro941Thr)
c.2929C>A (p.Pro977Thr)
c.2911C>A (p.Pro971Thr)
c.2635C>A (p.Pro879Thr)
n.3210C>A
c.2803C>A (p.Pro935Thr)
c.2617C>A (p.Pro873Thr)
n.3213C>A
c.2908C>A (p.Pro970Thr)
c.2974C>A (p.Pro992Thr)
c.2926C>A (p.Pro976Thr)
c.2791C>A (p.Pro931Thr)
c.2896-106C>A (n.2896-106C>A)
 dbSNP gnomAD v2 gnomAD v4
16g.28836017C=CA2215806810ATXN2Lc.2980C= (p.Pro994=)
c.955C= (p.Pro319=)
n.3354C=
c.175C= (p.Pro59=)
c.2998C= (p.Pro1000=)
c.2044C= (n.2044C=)
c.249C=
c.958C= (p.Pro320=)
c.500C=
c.3001C= (p.Pro1001=)
c.2983C= (p.Pro995=)
c.2821C= (p.Pro941=)
c.2929C= (p.Pro977=)
c.2911C= (p.Pro971=)
c.2635C= (p.Pro879=)
n.3210C=
c.2803C= (p.Pro935=)
c.2617C= (p.Pro873=)
n.3213C=
c.2908C= (p.Pro970=)
c.2974C= (p.Pro992=)
c.2926C= (p.Pro976=)
c.2791C= (p.Pro931=)
c.2896-106C= (n.2896-106C=)
16g.28836017C>GCA395409052ATXN2Lc.2980C>G (p.Pro994Ala)
c.955C>G (p.Pro319Ala)
n.3354C>G
c.175C>G (p.Pro59Ala)
c.2998C>G (p.Pro1000Ala)
c.2044C>G (n.2044C>G)
c.249C>G
c.958C>G (p.Pro320Ala)
c.500C>G
c.3001C>G (p.Pro1001Ala)
c.2983C>G (p.Pro995Ala)
c.2821C>G (p.Pro941Ala)
c.2929C>G (p.Pro977Ala)
c.2911C>G (p.Pro971Ala)
c.2635C>G (p.Pro879Ala)
n.3210C>G
c.2803C>G (p.Pro935Ala)
c.2617C>G (p.Pro873Ala)
n.3213C>G
c.2908C>G (p.Pro970Ala)
c.2974C>G (p.Pro992Ala)
c.2926C>G (p.Pro976Ala)
c.2791C>G (p.Pro931Ala)
c.2896-106C>G (n.2896-106C>G)
16g.28836017C>TCA395409055ATXN2Lc.2980C>T (p.Pro994Ser)
c.955C>T (p.Pro319Ser)
n.3354C>T
c.175C>T (p.Pro59Ser)
c.2998C>T (p.Pro1000Ser)
c.2044C>T (n.2044C>T)
c.249C>T
c.958C>T (p.Pro320Ser)
c.500C>T
c.3001C>T (p.Pro1001Ser)
c.2983C>T (p.Pro995Ser)
c.2821C>T (p.Pro941Ser)
c.2929C>T (p.Pro977Ser)
c.2911C>T (p.Pro971Ser)
c.2635C>T (p.Pro879Ser)
n.3210C>T
c.2803C>T (p.Pro935Ser)
c.2617C>T (p.Pro873Ser)
n.3213C>T
c.2908C>T (p.Pro970Ser)
c.2974C>T (p.Pro992Ser)
c.2926C>T (p.Pro976Ser)
c.2791C>T (p.Pro931Ser)
c.2896-106C>T (n.2896-106C>T)
16g.28836018C>ACA395409057ATXN2Lc.2981C>A (p.Pro994His)
c.956C>A (p.Pro319His)
n.3355C>A
c.176C>A (p.Pro59His)
c.2999C>A (p.Pro1000His)
c.2045C>A (n.2045C>A)
c.250C>A
c.959C>A (p.Pro320His)
c.501C>A
c.3002C>A (p.Pro1001His)
c.2984C>A (p.Pro995His)
c.2822C>A (p.Pro941His)
c.2930C>A (p.Pro977His)
c.2912C>A (p.Pro971His)
c.2636C>A (p.Pro879His)
n.3211C>A
c.2804C>A (p.Pro935His)
c.2618C>A (p.Pro873His)
n.3214C>A
c.2909C>A (p.Pro970His)
c.2975C>A (p.Pro992His)
c.2927C>A (p.Pro976His)
c.2792C>A (p.Pro931His)
c.2896-105C>A (n.2896-105C>A)
16g.28836018C>GCA395409061ATXN2Lc.2981C>G (p.Pro994Arg)
c.956C>G (p.Pro319Arg)
n.3355C>G
c.176C>G (p.Pro59Arg)
c.2999C>G (p.Pro1000Arg)
c.2045C>G (n.2045C>G)
c.250C>G
c.959C>G (p.Pro320Arg)
c.501C>G
c.3002C>G (p.Pro1001Arg)
c.2984C>G (p.Pro995Arg)
c.2822C>G (p.Pro941Arg)
c.2930C>G (p.Pro977Arg)
c.2912C>G (p.Pro971Arg)
c.2636C>G (p.Pro879Arg)
n.3211C>G
c.2804C>G (p.Pro935Arg)
c.2618C>G (p.Pro873Arg)
n.3214C>G
c.2909C>G (p.Pro970Arg)
c.2975C>G (p.Pro992Arg)
c.2927C>G (p.Pro976Arg)
c.2792C>G (p.Pro931Arg)
c.2896-105C>G (n.2896-105C>G)
16g.28836018C>TCA395409059ATXN2Lc.2981C>T (p.Pro994Leu)
c.956C>T (p.Pro319Leu)
n.3355C>T
c.176C>T (p.Pro59Leu)
c.2999C>T (p.Pro1000Leu)
c.2045C>T (n.2045C>T)
c.250C>T
c.959C>T (p.Pro320Leu)
c.501C>T
c.3002C>T (p.Pro1001Leu)
c.2984C>T (p.Pro995Leu)
c.2822C>T (p.Pro941Leu)
c.2930C>T (p.Pro977Leu)
c.2912C>T (p.Pro971Leu)
c.2636C>T (p.Pro879Leu)
n.3211C>T
c.2804C>T (p.Pro935Leu)
c.2618C>T (p.Pro873Leu)
n.3214C>T
c.2909C>T (p.Pro970Leu)
c.2975C>T (p.Pro992Leu)
c.2927C>T (p.Pro976Leu)
c.2792C>T (p.Pro931Leu)
c.2896-105C>T (n.2896-105C>T)
 gnomAD v4
16g.28836019C>ACA494868926ATXN2Lc.2982C>A (p.Pro994=)
c.957C>A (p.Pro319=)
n.3356C>A
c.177C>A (p.Pro59=)
c.3000C>A (p.Pro1000=)
c.2046C>A (n.2046C>A)
c.251C>A
c.960C>A (p.Pro320=)
c.502C>A
c.3003C>A (p.Pro1001=)
c.2985C>A (p.Pro995=)
c.2823C>A (p.Pro941=)
c.2931C>A (p.Pro977=)
c.2913C>A (p.Pro971=)
c.2637C>A (p.Pro879=)
n.3212C>A
c.2805C>A (p.Pro935=)
c.2619C>A (p.Pro873=)
n.3215C>A
c.2910C>A (p.Pro970=)
c.2976C>A (p.Pro992=)
c.2928C>A (p.Pro976=)
c.2793C>A (p.Pro931=)
c.2896-104C>A (n.2896-104C>A)
16g.28836019C=CA2215806813ATXN2Lc.2982C= (p.Pro994=)
c.957C= (p.Pro319=)
n.3356C=
c.177C= (p.Pro59=)
c.3000C= (p.Pro1000=)
c.2046C= (n.2046C=)
c.251C=
c.960C= (p.Pro320=)
c.502C=
c.3003C= (p.Pro1001=)
c.2985C= (p.Pro995=)
c.2823C= (p.Pro941=)
c.2931C= (p.Pro977=)
c.2913C= (p.Pro971=)
c.2637C= (p.Pro879=)
n.3212C=
c.2805C= (p.Pro935=)
c.2619C= (p.Pro873=)
n.3215C=
c.2910C= (p.Pro970=)
c.2976C= (p.Pro992=)
c.2928C= (p.Pro976=)
c.2793C= (p.Pro931=)
c.2896-104C= (n.2896-104C=)
16g.28836019C>GCA494868924ATXN2Lc.2982C>G (p.Pro994=)
c.957C>G (p.Pro319=)
n.3356C>G
c.177C>G (p.Pro59=)
c.3000C>G (p.Pro1000=)
c.2046C>G (n.2046C>G)
c.251C>G
c.960C>G (p.Pro320=)
c.502C>G
c.3003C>G (p.Pro1001=)
c.2985C>G (p.Pro995=)
c.2823C>G (p.Pro941=)
c.2931C>G (p.Pro977=)
c.2913C>G (p.Pro971=)
c.2637C>G (p.Pro879=)
n.3212C>G
c.2805C>G (p.Pro935=)
c.2619C>G (p.Pro873=)
n.3215C>G
c.2910C>G (p.Pro970=)
c.2976C>G (p.Pro992=)
c.2928C>G (p.Pro976=)
c.2793C>G (p.Pro931=)
c.2896-104C>G (n.2896-104C>G)
 dbSNP
16g.28836019C>TCA494868922ATXN2Lc.2982C>T (p.Pro994=)
c.957C>T (p.Pro319=)
n.3356C>T
c.177C>T (p.Pro59=)
c.3000C>T (p.Pro1000=)
c.2046C>T (n.2046C>T)
c.251C>T
c.960C>T (p.Pro320=)
c.502C>T
c.3003C>T (p.Pro1001=)
c.2985C>T (p.Pro995=)
c.2823C>T (p.Pro941=)
c.2931C>T (p.Pro977=)
c.2913C>T (p.Pro971=)
c.2637C>T (p.Pro879=)
n.3212C>T
c.2805C>T (p.Pro935=)
c.2619C>T (p.Pro873=)
n.3215C>T
c.2910C>T (p.Pro970=)
c.2976C>T (p.Pro992=)
c.2928C>T (p.Pro976=)
c.2793C>T (p.Pro931=)
c.2896-104C>T (n.2896-104C>T)
16g.28836020C>ACA395409062ATXN2Lc.2983C>A (p.Gln995Lys)
c.958C>A (p.Gln320Lys)
n.3357C>A
c.178C>A (p.Gln60Lys)
c.3001C>A (p.Gln1001Lys)
c.2047C>A (n.2047C>A)
c.252C>A
c.961C>A (p.Gln321Lys)
c.503C>A
c.3004C>A (p.Gln1002Lys)
c.2986C>A (p.Gln996Lys)
c.2824C>A (p.Gln942Lys)
c.2932C>A (p.Gln978Lys)
c.2914C>A (p.Gln972Lys)
c.2638C>A (p.Gln880Lys)
n.3213C>A
c.2806C>A (p.Gln936Lys)
c.2620C>A (p.Gln874Lys)
n.3216C>A
c.2911C>A (p.Gln971Lys)
c.2977C>A (p.Gln993Lys)
c.2929C>A (p.Gln977Lys)
c.2794C>A (p.Gln932Lys)
c.2896-103C>A (n.2896-103C>A)
16g.28836020C>GCA395409063ATXN2Lc.2983C>G (p.Gln995Glu)
c.958C>G (p.Gln320Glu)
n.3357C>G
c.178C>G (p.Gln60Glu)
c.3001C>G (p.Gln1001Glu)
c.2047C>G (n.2047C>G)
c.252C>G
c.961C>G (p.Gln321Glu)
c.503C>G
c.3004C>G (p.Gln1002Glu)
c.2986C>G (p.Gln996Glu)
c.2824C>G (p.Gln942Glu)
c.2932C>G (p.Gln978Glu)
c.2914C>G (p.Gln972Glu)
c.2638C>G (p.Gln880Glu)
n.3213C>G
c.2806C>G (p.Gln936Glu)
c.2620C>G (p.Gln874Glu)
n.3216C>G
c.2911C>G (p.Gln971Glu)
c.2977C>G (p.Gln993Glu)
c.2929C>G (p.Gln977Glu)
c.2794C>G (p.Gln932Glu)
c.2896-103C>G (n.2896-103C>G)
16g.28836020C>TCA395409065ATXN2Lc.2983C>T (p.Gln995Ter)
c.958C>T (p.Gln320Ter)
n.3357C>T
c.178C>T (p.Gln60Ter)
c.3001C>T (p.Gln1001Ter)
c.2047C>T (n.2047C>T)
c.252C>T
c.961C>T (p.Gln321Ter)
c.503C>T
c.3004C>T (p.Gln1002Ter)
c.2986C>T (p.Gln996Ter)
c.2824C>T (p.Gln942Ter)
c.2932C>T (p.Gln978Ter)
c.2914C>T (p.Gln972Ter)
c.2638C>T (p.Gln880Ter)
n.3213C>T
c.2806C>T (p.Gln936Ter)
c.2620C>T (p.Gln874Ter)
n.3216C>T
c.2911C>T (p.Gln971Ter)
c.2977C>T (p.Gln993Ter)
c.2929C>T (p.Gln977Ter)
c.2794C>T (p.Gln932Ter)
c.2896-103C>T (n.2896-103C>T)
 COSMIC COSMIC
16g.28836021A=CA2215806815ATXN2Lc.2984A= (p.Gln995=)
c.959A= (p.Gln320=)
n.3358A=
c.179A= (p.Gln60=)
c.3002A= (p.Gln1001=)
c.2048A= (n.2048A=)
c.253A=
c.962A= (p.Gln321=)
c.504A=
c.3005A= (p.Gln1002=)
c.2987A= (p.Gln996=)
c.2825A= (p.Gln942=)
c.2933A= (p.Gln978=)
c.2915A= (p.Gln972=)
c.2639A= (p.Gln880=)
n.3214A=
c.2807A= (p.Gln936=)
c.2621A= (p.Gln874=)
n.3217A=
c.2912A= (p.Gln971=)
c.2978A= (p.Gln993=)
c.2930A= (p.Gln977=)
c.2795A= (p.Gln932=)
c.2896-102A= (n.2896-102A=)
16g.28836021A>CCA395409068ATXN2Lc.2984A>C (p.Gln995Pro)
c.959A>C (p.Gln320Pro)
n.3358A>C
c.179A>C (p.Gln60Pro)
c.3002A>C (p.Gln1001Pro)
c.2048A>C (n.2048A>C)
c.253A>C
c.962A>C (p.Gln321Pro)
c.504A>C
c.3005A>C (p.Gln1002Pro)
c.2987A>C (p.Gln996Pro)
c.2825A>C (p.Gln942Pro)
c.2933A>C (p.Gln978Pro)
c.2915A>C (p.Gln972Pro)
c.2639A>C (p.Gln880Pro)
n.3214A>C
c.2807A>C (p.Gln936Pro)
c.2621A>C (p.Gln874Pro)
n.3217A>C
c.2912A>C (p.Gln971Pro)
c.2978A>C (p.Gln993Pro)
c.2930A>C (p.Gln977Pro)
c.2795A>C (p.Gln932Pro)
c.2896-102A>C (n.2896-102A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28836021A>GCA395409069ATXN2Lc.2984A>G (p.Gln995Arg)
c.959A>G (p.Gln320Arg)
n.3358A>G
c.179A>G (p.Gln60Arg)
c.3002A>G (p.Gln1001Arg)
c.2048A>G (n.2048A>G)
c.253A>G
c.962A>G (p.Gln321Arg)
c.504A>G
c.3005A>G (p.Gln1002Arg)
c.2987A>G (p.Gln996Arg)
c.2825A>G (p.Gln942Arg)
c.2933A>G (p.Gln978Arg)
c.2915A>G (p.Gln972Arg)
c.2639A>G (p.Gln880Arg)
n.3214A>G
c.2807A>G (p.Gln936Arg)
c.2621A>G (p.Gln874Arg)
n.3217A>G
c.2912A>G (p.Gln971Arg)
c.2978A>G (p.Gln993Arg)
c.2930A>G (p.Gln977Arg)
c.2795A>G (p.Gln932Arg)
c.2896-102A>G (n.2896-102A>G)
16g.28836021A>TCA395409071ATXN2Lc.2984A>T (p.Gln995Leu)
c.959A>T (p.Gln320Leu)
n.3358A>T
c.179A>T (p.Gln60Leu)
c.3002A>T (p.Gln1001Leu)
c.2048A>T (n.2048A>T)
c.253A>T
c.962A>T (p.Gln321Leu)
c.504A>T
c.3005A>T (p.Gln1002Leu)
c.2987A>T (p.Gln996Leu)
c.2825A>T (p.Gln942Leu)
c.2933A>T (p.Gln978Leu)
c.2915A>T (p.Gln972Leu)
c.2639A>T (p.Gln880Leu)
n.3214A>T
c.2807A>T (p.Gln936Leu)
c.2621A>T (p.Gln874Leu)
n.3217A>T
c.2912A>T (p.Gln971Leu)
c.2978A>T (p.Gln993Leu)
c.2930A>T (p.Gln977Leu)
c.2795A>T (p.Gln932Leu)
c.2896-102A>T (n.2896-102A>T)
16g.28836022G>ACA494868942ATXN2Lc.2985G>A (p.Gln995=)
c.960G>A (p.Gln320=)
n.3359G>A
c.180G>A (p.Gln60=)
c.3003G>A (p.Gln1001=)
c.2049G>A (n.2049G>A)
c.254G>A
c.963G>A (p.Gln321=)
c.505G>A
c.3006G>A (p.Gln1002=)
c.2988G>A (p.Gln996=)
c.2826G>A (p.Gln942=)
c.2934G>A (p.Gln978=)
c.2916G>A (p.Gln972=)
c.2640G>A (p.Gln880=)
n.3215G>A
c.2808G>A (p.Gln936=)
c.2622G>A (p.Gln874=)
n.3218G>A
c.2913G>A (p.Gln971=)
c.2979G>A (p.Gln993=)
c.2931G>A (p.Gln977=)
c.2796G>A (p.Gln932=)
c.2896-101G>A (n.2896-101G>A)
16g.28836022G>CCA395409073ATXN2Lc.2985G>C (p.Gln995His)
c.960G>C (p.Gln320His)
n.3359G>C
c.180G>C (p.Gln60His)
c.3003G>C (p.Gln1001His)
c.2049G>C (n.2049G>C)
c.254G>C
c.963G>C (p.Gln321His)
c.505G>C
c.3006G>C (p.Gln1002His)
c.2988G>C (p.Gln996His)
c.2826G>C (p.Gln942His)
c.2934G>C (p.Gln978His)
c.2916G>C (p.Gln972His)
c.2640G>C (p.Gln880His)
n.3215G>C
c.2808G>C (p.Gln936His)
c.2622G>C (p.Gln874His)
n.3218G>C
c.2913G>C (p.Gln971His)
c.2979G>C (p.Gln993His)
c.2931G>C (p.Gln977His)
c.2796G>C (p.Gln932His)
c.2896-101G>C (n.2896-101G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836022G=CA2215806818ATXN2Lc.2985G= (p.Gln995=)
c.960G= (p.Gln320=)
n.3359G=
c.180G= (p.Gln60=)
c.3003G= (p.Gln1001=)
c.2049G= (n.2049G=)
c.254G=
c.963G= (p.Gln321=)
c.505G=
c.3006G= (p.Gln1002=)
c.2988G= (p.Gln996=)
c.2826G= (p.Gln942=)
c.2934G= (p.Gln978=)
c.2916G= (p.Gln972=)
c.2640G= (p.Gln880=)
n.3215G=
c.2808G= (p.Gln936=)
c.2622G= (p.Gln874=)
n.3218G=
c.2913G= (p.Gln971=)
c.2979G= (p.Gln993=)
c.2931G= (p.Gln977=)
c.2796G= (p.Gln932=)
c.2896-101G= (n.2896-101G=)
16g.28836022G>TCA395409075ATXN2Lc.2985G>T (p.Gln995His)
c.960G>T (p.Gln320His)
n.3359G>T
c.180G>T (p.Gln60His)
c.3003G>T (p.Gln1001His)
c.2049G>T (n.2049G>T)
c.254G>T
c.963G>T (p.Gln321His)
c.505G>T
c.3006G>T (p.Gln1002His)
c.2988G>T (p.Gln996His)
c.2826G>T (p.Gln942His)
c.2934G>T (p.Gln978His)
c.2916G>T (p.Gln972His)
c.2640G>T (p.Gln880His)
n.3215G>T
c.2808G>T (p.Gln936His)
c.2622G>T (p.Gln874His)
n.3218G>T
c.2913G>T (p.Gln971His)
c.2979G>T (p.Gln993His)
c.2931G>T (p.Gln977His)
c.2796G>T (p.Gln932His)
c.2896-101G>T (n.2896-101G>T)
16g.28836023A>CCA395409076ATXN2Lc.2986A>C (p.Ser996Arg)
c.961A>C (p.Ser321Arg)
n.3360A>C
c.181A>C (p.Ser61Arg)
c.3004A>C (p.Ser1002Arg)
c.2050A>C (n.2050A>C)
c.255A>C
c.964A>C (p.Ser322Arg)
c.506A>C
c.3007A>C (p.Ser1003Arg)
c.2989A>C (p.Ser997Arg)
c.2827A>C (p.Ser943Arg)
c.2935A>C (p.Ser979Arg)
c.2917A>C (p.Ser973Arg)
c.2641A>C (p.Ser881Arg)
n.3216A>C
c.2809A>C (p.Ser937Arg)
c.2623A>C (p.Ser875Arg)
n.3219A>C
c.2914A>C (p.Ser972Arg)
c.2980A>C (p.Ser994Arg)
c.2932A>C (p.Ser978Arg)
c.2797A>C (p.Ser933Arg)
c.2896-100A>C (n.2896-100A>C)
16g.28836023A>GCA395409078ATXN2Lc.2986A>G (p.Ser996Gly)
c.961A>G (p.Ser321Gly)
n.3360A>G
c.181A>G (p.Ser61Gly)
c.3004A>G (p.Ser1002Gly)
c.2050A>G (n.2050A>G)
c.255A>G
c.964A>G (p.Ser322Gly)
c.506A>G
c.3007A>G (p.Ser1003Gly)
c.2989A>G (p.Ser997Gly)
c.2827A>G (p.Ser943Gly)
c.2935A>G (p.Ser979Gly)
c.2917A>G (p.Ser973Gly)
c.2641A>G (p.Ser881Gly)
n.3216A>G
c.2809A>G (p.Ser937Gly)
c.2623A>G (p.Ser875Gly)
n.3219A>G
c.2914A>G (p.Ser972Gly)
c.2980A>G (p.Ser994Gly)
c.2932A>G (p.Ser978Gly)
c.2797A>G (p.Ser933Gly)
c.2896-100A>G (n.2896-100A>G)
16g.28836023A>TCA395409080ATXN2Lc.2986A>T (p.Ser996Cys)
c.961A>T (p.Ser321Cys)
n.3360A>T
c.181A>T (p.Ser61Cys)
c.3004A>T (p.Ser1002Cys)
c.2050A>T (n.2050A>T)
c.255A>T
c.964A>T (p.Ser322Cys)
c.506A>T
c.3007A>T (p.Ser1003Cys)
c.2989A>T (p.Ser997Cys)
c.2827A>T (p.Ser943Cys)
c.2935A>T (p.Ser979Cys)
c.2917A>T (p.Ser973Cys)
c.2641A>T (p.Ser881Cys)
n.3216A>T
c.2809A>T (p.Ser937Cys)
c.2623A>T (p.Ser875Cys)
n.3219A>T
c.2914A>T (p.Ser972Cys)
c.2980A>T (p.Ser994Cys)
c.2932A>T (p.Ser978Cys)
c.2797A>T (p.Ser933Cys)
c.2896-100A>T (n.2896-100A>T)
16g.28836024G>ACA395409086ATXN2Lc.2987G>A (p.Ser996Asn)
c.962G>A (p.Ser321Asn)
n.3361G>A
c.182G>A (p.Ser61Asn)
c.3005G>A (p.Ser1002Asn)
c.2051G>A (n.2051G>A)
c.256G>A
c.965G>A (p.Ser322Asn)
c.507G>A
c.3008G>A (p.Ser1003Asn)
c.2990G>A (p.Ser997Asn)
c.2828G>A (p.Ser943Asn)
c.2936G>A (p.Ser979Asn)
c.2918G>A (p.Ser973Asn)
c.2642G>A (p.Ser881Asn)
n.3217G>A
c.2810G>A (p.Ser937Asn)
c.2624G>A (p.Ser875Asn)
n.3220G>A
c.2915G>A (p.Ser972Asn)
c.2981G>A (p.Ser994Asn)
c.2933G>A (p.Ser978Asn)
c.2798G>A (p.Ser933Asn)
c.2896-99G>A (n.2896-99G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.28836024G>CCA395409084ATXN2Lc.2987G>C (p.Ser996Thr)
c.962G>C (p.Ser321Thr)
n.3361G>C
c.182G>C (p.Ser61Thr)
c.3005G>C (p.Ser1002Thr)
c.2051G>C (n.2051G>C)
c.256G>C
c.965G>C (p.Ser322Thr)
c.507G>C
c.3008G>C (p.Ser1003Thr)
c.2990G>C (p.Ser997Thr)
c.2828G>C (p.Ser943Thr)
c.2936G>C (p.Ser979Thr)
c.2918G>C (p.Ser973Thr)
c.2642G>C (p.Ser881Thr)
n.3217G>C
c.2810G>C (p.Ser937Thr)
c.2624G>C (p.Ser875Thr)
n.3220G>C
c.2915G>C (p.Ser972Thr)
c.2981G>C (p.Ser994Thr)
c.2933G>C (p.Ser978Thr)
c.2798G>C (p.Ser933Thr)
c.2896-99G>C (n.2896-99G>C)
 gnomAD v4
16g.28836024G=CA2215806819ATXN2Lc.2987G= (p.Ser996=)
c.962G= (p.Ser321=)
n.3361G=
c.182G= (p.Ser61=)
c.3005G= (p.Ser1002=)
c.2051G= (n.2051G=)
c.256G=
c.965G= (p.Ser322=)
c.507G=
c.3008G= (p.Ser1003=)
c.2990G= (p.Ser997=)
c.2828G= (p.Ser943=)
c.2936G= (p.Ser979=)
c.2918G= (p.Ser973=)
c.2642G= (p.Ser881=)
n.3217G=
c.2810G= (p.Ser937=)
c.2624G= (p.Ser875=)
n.3220G=
c.2915G= (p.Ser972=)
c.2981G= (p.Ser994=)
c.2933G= (p.Ser978=)
c.2798G= (p.Ser933=)
c.2896-99G= (n.2896-99G=)
16g.28836024G>TCA395409082ATXN2Lc.2987G>T (p.Ser996Ile)
c.962G>T (p.Ser321Ile)
n.3361G>T
c.182G>T (p.Ser61Ile)
c.3005G>T (p.Ser1002Ile)
c.2051G>T (n.2051G>T)
c.256G>T
c.965G>T (p.Ser322Ile)
c.507G>T
c.3008G>T (p.Ser1003Ile)
c.2990G>T (p.Ser997Ile)
c.2828G>T (p.Ser943Ile)
c.2936G>T (p.Ser979Ile)
c.2918G>T (p.Ser973Ile)
c.2642G>T (p.Ser881Ile)
n.3217G>T
c.2810G>T (p.Ser937Ile)
c.2624G>T (p.Ser875Ile)
n.3220G>T
c.2915G>T (p.Ser972Ile)
c.2981G>T (p.Ser994Ile)
c.2933G>T (p.Ser978Ile)
c.2798G>T (p.Ser933Ile)
c.2896-99G>T (n.2896-99G>T)
16g.28836025T>ACA395409088ATXN2Lc.2988T>A (p.Ser996Arg)
c.963T>A (p.Ser321Arg)
n.3362T>A
c.183T>A (p.Ser61Arg)
c.3006T>A (p.Ser1002Arg)
c.2052T>A (n.2052T>A)
c.257T>A
c.966T>A (p.Ser322Arg)
c.508T>A
c.3009T>A (p.Ser1003Arg)
c.2991T>A (p.Ser997Arg)
c.2829T>A (p.Ser943Arg)
c.2937T>A (p.Ser979Arg)
c.2919T>A (p.Ser973Arg)
c.2643T>A (p.Ser881Arg)
n.3218T>A
c.2811T>A (p.Ser937Arg)
c.2625T>A (p.Ser875Arg)
n.3221T>A
c.2916T>A (p.Ser972Arg)
c.2982T>A (p.Ser994Arg)
c.2934T>A (p.Ser978Arg)
c.2799T>A (p.Ser933Arg)
c.2896-98T>A (n.2896-98T>A)
16g.28836025T>CCA494868979ATXN2Lc.2988T>C (p.Ser996=)
c.963T>C (p.Ser321=)
n.3362T>C
c.183T>C (p.Ser61=)
c.3006T>C (p.Ser1002=)
c.2052T>C (n.2052T>C)
c.257T>C
c.966T>C (p.Ser322=)
c.508T>C
c.3009T>C (p.Ser1003=)
c.2991T>C (p.Ser997=)
c.2829T>C (p.Ser943=)
c.2937T>C (p.Ser979=)
c.2919T>C (p.Ser973=)
c.2643T>C (p.Ser881=)
n.3218T>C
c.2811T>C (p.Ser937=)
c.2625T>C (p.Ser875=)
n.3221T>C
c.2916T>C (p.Ser972=)
c.2982T>C (p.Ser994=)
c.2934T>C (p.Ser978=)
c.2799T>C (p.Ser933=)
c.2896-98T>C (n.2896-98T>C)
 COSMIC COSMIC COSMIC COSMIC
16g.28836025T>GCA395409089ATXN2Lc.2988T>G (p.Ser996Arg)
c.963T>G (p.Ser321Arg)
n.3362T>G
c.183T>G (p.Ser61Arg)
c.3006T>G (p.Ser1002Arg)
c.2052T>G (n.2052T>G)
c.257T>G
c.966T>G (p.Ser322Arg)
c.508T>G
c.3009T>G (p.Ser1003Arg)
c.2991T>G (p.Ser997Arg)
c.2829T>G (p.Ser943Arg)
c.2937T>G (p.Ser979Arg)
c.2919T>G (p.Ser973Arg)
c.2643T>G (p.Ser881Arg)
n.3218T>G
c.2811T>G (p.Ser937Arg)
c.2625T>G (p.Ser875Arg)
n.3221T>G
c.2916T>G (p.Ser972Arg)
c.2982T>G (p.Ser994Arg)
c.2934T>G (p.Ser978Arg)
c.2799T>G (p.Ser933Arg)
c.2896-98T>G (n.2896-98T>G)
16g.28836026C>ACA395409092ATXN2Lc.2989C>A (p.His997Asn)
c.964C>A (p.His322Asn)
n.3363C>A
c.184C>A (p.His62Asn)
c.3007C>A (p.His1003Asn)
c.2053C>A (n.2053C>A)
c.258C>A
c.967C>A (p.His323Asn)
c.509C>A
c.3010C>A (p.His1004Asn)
c.2992C>A (p.His998Asn)
c.2830C>A (p.His944Asn)
c.2938C>A (p.His980Asn)
c.2920C>A (p.His974Asn)
c.2644C>A (p.His882Asn)
n.3219C>A
c.2812C>A (p.His938Asn)
c.2626C>A (p.His876Asn)
n.3222C>A
c.2917C>A (p.His973Asn)
c.2983C>A (p.His995Asn)
c.2935C>A (p.His979Asn)
c.2800C>A (p.His934Asn)
c.2896-97C>A (n.2896-97C>A)
 gnomAD v4
16g.28836026C>GCA395409095ATXN2Lc.2989C>G (p.His997Asp)
c.964C>G (p.His322Asp)
n.3363C>G
c.184C>G (p.His62Asp)
c.3007C>G (p.His1003Asp)
c.2053C>G (n.2053C>G)
c.258C>G
c.967C>G (p.His323Asp)
c.509C>G
c.3010C>G (p.His1004Asp)
c.2992C>G (p.His998Asp)
c.2830C>G (p.His944Asp)
c.2938C>G (p.His980Asp)
c.2920C>G (p.His974Asp)
c.2644C>G (p.His882Asp)
n.3219C>G
c.2812C>G (p.His938Asp)
c.2626C>G (p.His876Asp)
n.3222C>G
c.2917C>G (p.His973Asp)
c.2983C>G (p.His995Asp)
c.2935C>G (p.His979Asp)
c.2800C>G (p.His934Asp)
c.2896-97C>G (n.2896-97C>G)
16g.28836026C>TCA395409094ATXN2Lc.2989C>T (p.His997Tyr)
c.964C>T (p.His322Tyr)
n.3363C>T
c.184C>T (p.His62Tyr)
c.3007C>T (p.His1003Tyr)
c.2053C>T (n.2053C>T)
c.258C>T
c.967C>T (p.His323Tyr)
c.509C>T
c.3010C>T (p.His1004Tyr)
c.2992C>T (p.His998Tyr)
c.2830C>T (p.His944Tyr)
c.2938C>T (p.His980Tyr)
c.2920C>T (p.His974Tyr)
c.2644C>T (p.His882Tyr)
n.3219C>T
c.2812C>T (p.His938Tyr)
c.2626C>T (p.His876Tyr)
n.3222C>T
c.2917C>T (p.His973Tyr)
c.2983C>T (p.His995Tyr)
c.2935C>T (p.His979Tyr)
c.2800C>T (p.His934Tyr)
c.2896-97C>T (n.2896-97C>T)
 gnomAD v4
16g.28836027A=CA2215806821ATXN2Lc.2990A= (p.His997=)
c.965A= (p.His322=)
n.3364A=
c.185A= (p.His62=)
c.3008A= (p.His1003=)
c.2054A= (n.2054A=)
c.259A=
c.968A= (p.His323=)
c.510A=
c.3011A= (p.His1004=)
c.2993A= (p.His998=)
c.2831A= (p.His944=)
c.2939A= (p.His980=)
c.2921A= (p.His974=)
c.2645A= (p.His882=)
n.3220A=
c.2813A= (p.His938=)
c.2627A= (p.His876=)
n.3223A=
c.2918A= (p.His973=)
c.2984A= (p.His995=)
c.2936A= (p.His979=)
c.2801A= (p.His934=)
c.2896-96A= (n.2896-96A=)
16g.28836027A>CCA395409098ATXN2Lc.2990A>C (p.His997Pro)
c.965A>C (p.His322Pro)
n.3364A>C
c.185A>C (p.His62Pro)
c.3008A>C (p.His1003Pro)
c.2054A>C (n.2054A>C)
c.259A>C
c.968A>C (p.His323Pro)
c.510A>C
c.3011A>C (p.His1004Pro)
c.2993A>C (p.His998Pro)
c.2831A>C (p.His944Pro)
c.2939A>C (p.His980Pro)
c.2921A>C (p.His974Pro)
c.2645A>C (p.His882Pro)
n.3220A>C
c.2813A>C (p.His938Pro)
c.2627A>C (p.His876Pro)
n.3223A>C
c.2918A>C (p.His973Pro)
c.2984A>C (p.His995Pro)
c.2936A>C (p.His979Pro)
c.2801A>C (p.His934Pro)
c.2896-96A>C (n.2896-96A>C)
 dbSNP
16g.28836027A>GCA395409100ATXN2Lc.2990A>G (p.His997Arg)
c.965A>G (p.His322Arg)
n.3364A>G
c.185A>G (p.His62Arg)
c.3008A>G (p.His1003Arg)
c.2054A>G (n.2054A>G)
c.259A>G
c.968A>G (p.His323Arg)
c.510A>G
c.3011A>G (p.His1004Arg)
c.2993A>G (p.His998Arg)
c.2831A>G (p.His944Arg)
c.2939A>G (p.His980Arg)
c.2921A>G (p.His974Arg)
c.2645A>G (p.His882Arg)
n.3220A>G
c.2813A>G (p.His938Arg)
c.2627A>G (p.His876Arg)
n.3223A>G
c.2918A>G (p.His973Arg)
c.2984A>G (p.His995Arg)
c.2936A>G (p.His979Arg)
c.2801A>G (p.His934Arg)
c.2896-96A>G (n.2896-96A>G)
 gnomAD v4
16g.28836027A>TCA395409101ATXN2Lc.2990A>T (p.His997Leu)
c.965A>T (p.His322Leu)
n.3364A>T
c.185A>T (p.His62Leu)
c.3008A>T (p.His1003Leu)
c.2054A>T (n.2054A>T)
c.259A>T
c.968A>T (p.His323Leu)
c.510A>T
c.3011A>T (p.His1004Leu)
c.2993A>T (p.His998Leu)
c.2831A>T (p.His944Leu)
c.2939A>T (p.His980Leu)
c.2921A>T (p.His974Leu)
c.2645A>T (p.His882Leu)
n.3220A>T
c.2813A>T (p.His938Leu)
c.2627A>T (p.His876Leu)
n.3223A>T
c.2918A>T (p.His973Leu)
c.2984A>T (p.His995Leu)
c.2936A>T (p.His979Leu)
c.2801A>T (p.His934Leu)
c.2896-96A>T (n.2896-96A>T)
16g.28836028T>ACA395409103ATXN2Lc.2991T>A (p.His997Gln)
c.966T>A (p.His322Gln)
n.3365T>A
c.186T>A (p.His62Gln)
c.3009T>A (p.His1003Gln)
c.2055T>A (n.2055T>A)
c.260T>A
c.969T>A (p.His323Gln)
c.511T>A
c.3012T>A (p.His1004Gln)
c.2994T>A (p.His998Gln)
c.2832T>A (p.His944Gln)
c.2940T>A (p.His980Gln)
c.2922T>A (p.His974Gln)
c.2646T>A (p.His882Gln)
n.3221T>A
c.2814T>A (p.His938Gln)
c.2628T>A (p.His876Gln)
n.3224T>A
c.2919T>A (p.His973Gln)
c.2985T>A (p.His995Gln)
c.2937T>A (p.His979Gln)
c.2802T>A (p.His934Gln)
c.2896-95T>A (n.2896-95T>A)
 dbSNP gnomAD v4
16g.28836028T>CCA494869008ATXN2Lc.2991T>C (p.His997=)
c.966T>C (p.His322=)
n.3365T>C
c.186T>C (p.His62=)
c.3009T>C (p.His1003=)
c.2055T>C (n.2055T>C)
c.260T>C
c.969T>C (p.His323=)
c.511T>C
c.3012T>C (p.His1004=)
c.2994T>C (p.His998=)
c.2832T>C (p.His944=)
c.2940T>C (p.His980=)
c.2922T>C (p.His974=)
c.2646T>C (p.His882=)
n.3221T>C
c.2814T>C (p.His938=)
c.2628T>C (p.His876=)
n.3224T>C
c.2919T>C (p.His973=)
c.2985T>C (p.His995=)
c.2937T>C (p.His979=)
c.2802T>C (p.His934=)
c.2896-95T>C (n.2896-95T>C)
 gnomAD v4
16g.28836028T>GCA395409105ATXN2Lc.2991T>G (p.His997Gln)
c.966T>G (p.His322Gln)
n.3365T>G
c.186T>G (p.His62Gln)
c.3009T>G (p.His1003Gln)
c.2055T>G (n.2055T>G)
c.260T>G
c.969T>G (p.His323Gln)
c.511T>G
c.3012T>G (p.His1004Gln)
c.2994T>G (p.His998Gln)
c.2832T>G (p.His944Gln)
c.2940T>G (p.His980Gln)
c.2922T>G (p.His974Gln)
c.2646T>G (p.His882Gln)
n.3221T>G
c.2814T>G (p.His938Gln)
c.2628T>G (p.His876Gln)
n.3224T>G
c.2919T>G (p.His973Gln)
c.2985T>G (p.His995Gln)
c.2937T>G (p.His979Gln)
c.2802T>G (p.His934Gln)
c.2896-95T>G (n.2896-95T>G)
16g.28836028_28836031delinsTGGGCA2215806823ATXN2Lc.2991_2994delinsTGGG (p.His997=)
c.966_969delinsTGGG (p.His322=)
n.3365_3368delinsTGGG
c.186_189delinsTGGG (p.His62=)
c.3009_3012delinsTGGG (p.His1003=)
c.2055_2058delinsTGGG (n.2055_2058delinsTGGG)
c.260_263delinsTGGG
c.969_972delinsTGGG (p.His323=)
c.511_514delinsTGGG
c.3012_3015delinsTGGG (p.His1004=)
c.2994_2997delinsTGGG (p.His998=)
c.2832_2835delinsTGGG (p.His944=)
c.2940_2943delinsTGGG (p.His980=)
c.2922_2925delinsTGGG (p.His974=)
c.2646_2649delinsTGGG (p.His882=)
n.3221_3224delinsTGGG
c.2814_2817delinsTGGG (p.His938=)
c.2628_2631delinsTGGG (p.His876=)
n.3224_3227delinsTGGG
c.2919_2922delinsTGGG (p.His973=)
c.2985_2988delinsTGGG (p.His995=)
c.2937_2940delinsTGGG (p.His979=)
c.2802_2805delinsTGGG (p.His934=)
c.2896-95_2896-92delinsTGGG (n.2896-95_2896-92delinsTGGG)
16g.28836029G>ACA395409107ATXN2Lc.2992G>A (p.Gly998Arg)
c.967G>A (p.Gly323Arg)
n.3366G>A
c.187G>A (p.Gly63Arg)
c.3010G>A (p.Gly1004Arg)
c.2056G>A (n.2056G>A)
c.261G>A
c.970G>A (p.Gly324Arg)
c.512G>A
c.3013G>A (p.Gly1005Arg)
c.2995G>A (p.Gly999Arg)
c.2833G>A (p.Gly945Arg)
c.2941G>A (p.Gly981Arg)
c.2923G>A (p.Gly975Arg)
c.2647G>A (p.Gly883Arg)
n.3222G>A
c.2815G>A (p.Gly939Arg)
c.2629G>A (p.Gly877Arg)
n.3225G>A
c.2920G>A (p.Gly974Arg)
c.2986G>A (p.Gly996Arg)
c.2938G>A (p.Gly980Arg)
c.2803G>A (p.Gly935Arg)
c.2896-94G>A (n.2896-94G>A)
 gnomAD v4
16g.28836029G>CCA395409109ATXN2Lc.2992G>C (p.Gly998Arg)
c.967G>C (p.Gly323Arg)
n.3366G>C
c.187G>C (p.Gly63Arg)
c.3010G>C (p.Gly1004Arg)
c.2056G>C (n.2056G>C)
c.261G>C
c.970G>C (p.Gly324Arg)
c.512G>C
c.3013G>C (p.Gly1005Arg)
c.2995G>C (p.Gly999Arg)
c.2833G>C (p.Gly945Arg)
c.2941G>C (p.Gly981Arg)
c.2923G>C (p.Gly975Arg)
c.2647G>C (p.Gly883Arg)
n.3222G>C
c.2815G>C (p.Gly939Arg)
c.2629G>C (p.Gly877Arg)
n.3225G>C
c.2920G>C (p.Gly974Arg)
c.2986G>C (p.Gly996Arg)
c.2938G>C (p.Gly980Arg)
c.2803G>C (p.Gly935Arg)
c.2896-94G>C (n.2896-94G>C)
16g.28836029G>TCA395409111ATXN2Lc.2992G>T (p.Gly998Trp)
c.967G>T (p.Gly323Trp)
n.3366G>T
c.187G>T (p.Gly63Trp)
c.3010G>T (p.Gly1004Trp)
c.2056G>T (n.2056G>T)
c.261G>T
c.970G>T (p.Gly324Trp)
c.512G>T
c.3013G>T (p.Gly1005Trp)
c.2995G>T (p.Gly999Trp)
c.2833G>T (p.Gly945Trp)
c.2941G>T (p.Gly981Trp)
c.2923G>T (p.Gly975Trp)
c.2647G>T (p.Gly883Trp)
n.3222G>T
c.2815G>T (p.Gly939Trp)
c.2629G>T (p.Gly877Trp)
n.3225G>T
c.2920G>T (p.Gly974Trp)
c.2986G>T (p.Gly996Trp)
c.2938G>T (p.Gly980Trp)
c.2803G>T (p.Gly935Trp)
c.2896-94G>T (n.2896-94G>T)
16g.28836034dupCA2632529237ATXN2Lc.2997dup (p.Pro1000AlafsTer?)
c.972dup (p.Pro325AlafsTer?)
n.3371dup
c.192dup (p.Pro65AlafsTer?)
c.3015dup (p.Pro1006AlafsTer?)
c.2061dup (n.2061dup)
c.266dup
c.975dup (p.Pro326AlafsTer?)
c.517dup
c.3018dup (p.Pro1007AlafsTer?)
c.3000dup (p.Pro1001AlafsTer?)
c.2838dup (p.Pro947AlafsTer?)
c.2946dup (p.Pro983AlafsTer?)
c.2928dup (p.Pro977AlafsTer?)
c.2652dup (p.Pro885AlafsTer?)
n.3227dup
c.2820dup (p.Pro941AlafsTer?)
c.2634dup (p.Pro879AlafsTer?)
n.3230dup
c.2925dup (p.Pro976AlafsTer?)
c.2991dup (p.Pro998AlafsTer?)
c.2943dup (p.Pro982AlafsTer?)
c.2808dup (p.Pro937AlafsTer?)
c.2896-89dup (n.2896-89dup)
 gnomAD v4
16g.28836034delCA395409113ATXN2Lc.2997del (p.Gln1002LysfsTer?)
c.972del (p.Gln327LysfsTer?)
n.3371del
c.192del (p.Gln67LysfsTer?)
c.3015del (p.Gln1008LysfsTer?)
c.2061del (n.2061del)
c.266del
c.975del (p.Gln328LysfsTer?)
c.517del
c.3018del (p.Gln1009LysfsTer?)
c.3000del (p.Gln1003LysfsTer?)
c.2838del (p.Gln949LysfsTer?)
c.2946del (p.Gln985LysfsTer?)
c.2928del (p.Gln979LysfsTer?)
c.2652del (p.Gln887LysfsTer?)
n.3227del
c.2820del (p.Gln943LysfsTer?)
c.2634del (p.Gln881LysfsTer?)
n.3230del
c.2925del (p.Gln978LysfsTer?)
c.2991del (p.Gln1000LysfsTer?)
c.2943del (p.Gln984LysfsTer?)
c.2808del (p.Gln939LysfsTer?)
c.2896-89del (n.2896-89del)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836032_28836034delCA2215806827ATXN2Lc.2995_2997del (p.Gly999del)
c.970_972del (p.Gly324del)
n.3369_3371del
c.190_192del (p.Gly64del)
c.3013_3015del (p.Gly1005del)
c.2059_2061del (n.2059_2061del)
c.264_266del
c.973_975del (p.Gly325del)
c.515_517del
c.3016_3018del (p.Gly1006del)
c.2998_3000del (p.Gly1000del)
c.2836_2838del (p.Gly946del)
c.2944_2946del (p.Gly982del)
c.2926_2928del (p.Gly976del)
c.2650_2652del (p.Gly884del)
n.3225_3227del
c.2818_2820del (p.Gly940del)
c.2632_2634del (p.Gly878del)
n.3228_3230del
c.2923_2925del (p.Gly975del)
c.2989_2991del (p.Gly997del)
c.2941_2943del (p.Gly981del)
c.2806_2808del (p.Gly936del)
c.2896-91_2896-89del (n.2896-91_2896-89del)
 dbSNP
16g.28836030G>ACA395409115ATXN2Lc.2993G>A (p.Gly998Glu)
c.968G>A (p.Gly323Glu)
n.3367G>A
c.188G>A (p.Gly63Glu)
c.3011G>A (p.Gly1004Glu)
c.2057G>A (n.2057G>A)
c.262G>A
c.971G>A (p.Gly324Glu)
c.513G>A
c.3014G>A (p.Gly1005Glu)
c.2996G>A (p.Gly999Glu)
c.2834G>A (p.Gly945Glu)
c.2942G>A (p.Gly981Glu)
c.2924G>A (p.Gly975Glu)
c.2648G>A (p.Gly883Glu)
n.3223G>A
c.2816G>A (p.Gly939Glu)
c.2630G>A (p.Gly877Glu)
n.3226G>A
c.2921G>A (p.Gly974Glu)
c.2987G>A (p.Gly996Glu)
c.2939G>A (p.Gly980Glu)
c.2804G>A (p.Gly935Glu)
c.2896-93G>A (n.2896-93G>A)
 gnomAD v4
16g.28836030G>CCA395409117ATXN2Lc.2993G>C (p.Gly998Ala)
c.968G>C (p.Gly323Ala)
n.3367G>C
c.188G>C (p.Gly63Ala)
c.3011G>C (p.Gly1004Ala)
c.2057G>C (n.2057G>C)
c.262G>C
c.971G>C (p.Gly324Ala)
c.513G>C
c.3014G>C (p.Gly1005Ala)
c.2996G>C (p.Gly999Ala)
c.2834G>C (p.Gly945Ala)
c.2942G>C (p.Gly981Ala)
c.2924G>C (p.Gly975Ala)
c.2648G>C (p.Gly883Ala)
n.3223G>C
c.2816G>C (p.Gly939Ala)
c.2630G>C (p.Gly877Ala)
n.3226G>C
c.2921G>C (p.Gly974Ala)
c.2987G>C (p.Gly996Ala)
c.2939G>C (p.Gly980Ala)
c.2804G>C (p.Gly935Ala)
c.2896-93G>C (n.2896-93G>C)
 gnomAD v4
16g.28836030G>TCA395409119ATXN2Lc.2993G>T (p.Gly998Val)
c.968G>T (p.Gly323Val)
n.3367G>T
c.188G>T (p.Gly63Val)
c.3011G>T (p.Gly1004Val)
c.2057G>T (n.2057G>T)
c.262G>T
c.971G>T (p.Gly324Val)
c.513G>T
c.3014G>T (p.Gly1005Val)
c.2996G>T (p.Gly999Val)
c.2834G>T (p.Gly945Val)
c.2942G>T (p.Gly981Val)
c.2924G>T (p.Gly975Val)
c.2648G>T (p.Gly883Val)
n.3223G>T
c.2816G>T (p.Gly939Val)
c.2630G>T (p.Gly877Val)
n.3226G>T
c.2921G>T (p.Gly974Val)
c.2987G>T (p.Gly996Val)
c.2939G>T (p.Gly980Val)
c.2804G>T (p.Gly935Val)
c.2896-93G>T (n.2896-93G>T)
16g.28836031G>ACA494869047ATXN2Lc.2994G>A (p.Gly998=)
c.969G>A (p.Gly323=)
n.3368G>A
c.189G>A (p.Gly63=)
c.3012G>A (p.Gly1004=)
c.2058G>A (n.2058G>A)
c.263G>A
c.972G>A (p.Gly324=)
c.514G>A
c.3015G>A (p.Gly1005=)
c.2997G>A (p.Gly999=)
c.2835G>A (p.Gly945=)
c.2943G>A (p.Gly981=)
c.2925G>A (p.Gly975=)
c.2649G>A (p.Gly883=)
n.3224G>A
c.2817G>A (p.Gly939=)
c.2631G>A (p.Gly877=)
n.3227G>A
c.2922G>A (p.Gly974=)
c.2988G>A (p.Gly996=)
c.2940G>A (p.Gly980=)
c.2805G>A (p.Gly935=)
c.2896-92G>A (n.2896-92G>A)
 gnomAD v4
16g.28836031G>CCA494869049ATXN2Lc.2994G>C (p.Gly998=)
c.969G>C (p.Gly323=)
n.3368G>C
c.189G>C (p.Gly63=)
c.3012G>C (p.Gly1004=)
c.2058G>C (n.2058G>C)
c.263G>C
c.972G>C (p.Gly324=)
c.514G>C
c.3015G>C (p.Gly1005=)
c.2997G>C (p.Gly999=)
c.2835G>C (p.Gly945=)
c.2943G>C (p.Gly981=)
c.2925G>C (p.Gly975=)
c.2649G>C (p.Gly883=)
n.3224G>C
c.2817G>C (p.Gly939=)
c.2631G>C (p.Gly877=)
n.3227G>C
c.2922G>C (p.Gly974=)
c.2988G>C (p.Gly996=)
c.2940G>C (p.Gly980=)
c.2805G>C (p.Gly935=)
c.2896-92G>C (n.2896-92G>C)
16g.28836031G>TCA494869053ATXN2Lc.2994G>T (p.Gly998=)
c.969G>T (p.Gly323=)
n.3368G>T
c.189G>T (p.Gly63=)
c.3012G>T (p.Gly1004=)
c.2058G>T (n.2058G>T)
c.263G>T
c.972G>T (p.Gly324=)
c.514G>T
c.3015G>T (p.Gly1005=)
c.2997G>T (p.Gly999=)
c.2835G>T (p.Gly945=)
c.2943G>T (p.Gly981=)
c.2925G>T (p.Gly975=)
c.2649G>T (p.Gly883=)
n.3224G>T
c.2817G>T (p.Gly939=)
c.2631G>T (p.Gly877=)
n.3227G>T
c.2922G>T (p.Gly974=)
c.2988G>T (p.Gly996=)
c.2940G>T (p.Gly980=)
c.2805G>T (p.Gly935=)
c.2896-92G>T (n.2896-92G>T)
16g.28836032G>ACA395409121ATXN2Lc.2995G>A (p.Gly999Arg)
c.970G>A (p.Gly324Arg)
n.3369G>A
c.190G>A (p.Gly64Arg)
c.3013G>A (p.Gly1005Arg)
c.2059G>A (n.2059G>A)
c.264G>A
c.973G>A (p.Gly325Arg)
c.515G>A
c.3016G>A (p.Gly1006Arg)
c.2998G>A (p.Gly1000Arg)
c.2836G>A (p.Gly946Arg)
c.2944G>A (p.Gly982Arg)
c.2926G>A (p.Gly976Arg)
c.2650G>A (p.Gly884Arg)
n.3225G>A
c.2818G>A (p.Gly940Arg)
c.2632G>A (p.Gly878Arg)
n.3228G>A
c.2923G>A (p.Gly975Arg)
c.2989G>A (p.Gly997Arg)
c.2941G>A (p.Gly981Arg)
c.2806G>A (p.Gly936Arg)
c.2896-91G>A (n.2896-91G>A)
16g.28836032G>CCA395409125ATXN2Lc.2995G>C (p.Gly999Arg)
c.970G>C (p.Gly324Arg)
n.3369G>C
c.190G>C (p.Gly64Arg)
c.3013G>C (p.Gly1005Arg)
c.2059G>C (n.2059G>C)
c.264G>C
c.973G>C (p.Gly325Arg)
c.515G>C
c.3016G>C (p.Gly1006Arg)
c.2998G>C (p.Gly1000Arg)
c.2836G>C (p.Gly946Arg)
c.2944G>C (p.Gly982Arg)
c.2926G>C (p.Gly976Arg)
c.2650G>C (p.Gly884Arg)
n.3225G>C
c.2818G>C (p.Gly940Arg)
c.2632G>C (p.Gly878Arg)
n.3228G>C
c.2923G>C (p.Gly975Arg)
c.2989G>C (p.Gly997Arg)
c.2941G>C (p.Gly981Arg)
c.2806G>C (p.Gly936Arg)
c.2896-91G>C (n.2896-91G>C)
16g.28836032G>TCA395409123ATXN2Lc.2995G>T (p.Gly999Trp)
c.970G>T (p.Gly324Trp)
n.3369G>T
c.190G>T (p.Gly64Trp)
c.3013G>T (p.Gly1005Trp)
c.2059G>T (n.2059G>T)
c.264G>T
c.973G>T (p.Gly325Trp)
c.515G>T
c.3016G>T (p.Gly1006Trp)
c.2998G>T (p.Gly1000Trp)
c.2836G>T (p.Gly946Trp)
c.2944G>T (p.Gly982Trp)
c.2926G>T (p.Gly976Trp)
c.2650G>T (p.Gly884Trp)
n.3225G>T
c.2818G>T (p.Gly940Trp)
c.2632G>T (p.Gly878Trp)
n.3228G>T
c.2923G>T (p.Gly975Trp)
c.2989G>T (p.Gly997Trp)
c.2941G>T (p.Gly981Trp)
c.2806G>T (p.Gly936Trp)
c.2896-91G>T (n.2896-91G>T)
16g.28836033G>ACA395409127ATXN2Lc.2996G>A (p.Gly999Glu)
c.971G>A (p.Gly324Glu)
n.3370G>A
c.191G>A (p.Gly64Glu)
c.3014G>A (p.Gly1005Glu)
c.2060G>A (n.2060G>A)
c.265G>A
c.974G>A (p.Gly325Glu)
c.516G>A
c.3017G>A (p.Gly1006Glu)
c.2999G>A (p.Gly1000Glu)
c.2837G>A (p.Gly946Glu)
c.2945G>A (p.Gly982Glu)
c.2927G>A (p.Gly976Glu)
c.2651G>A (p.Gly884Glu)
n.3226G>A
c.2819G>A (p.Gly940Glu)
c.2633G>A (p.Gly878Glu)
n.3229G>A
c.2924G>A (p.Gly975Glu)
c.2990G>A (p.Gly997Glu)
c.2942G>A (p.Gly981Glu)
c.2807G>A (p.Gly936Glu)
c.2896-90G>A (n.2896-90G>A)
16g.28836033G>CCA395409129ATXN2Lc.2996G>C (p.Gly999Ala)
c.971G>C (p.Gly324Ala)
n.3370G>C
c.191G>C (p.Gly64Ala)
c.3014G>C (p.Gly1005Ala)
c.2060G>C (n.2060G>C)
c.265G>C
c.974G>C (p.Gly325Ala)
c.516G>C
c.3017G>C (p.Gly1006Ala)
c.2999G>C (p.Gly1000Ala)
c.2837G>C (p.Gly946Ala)
c.2945G>C (p.Gly982Ala)
c.2927G>C (p.Gly976Ala)
c.2651G>C (p.Gly884Ala)
n.3226G>C
c.2819G>C (p.Gly940Ala)
c.2633G>C (p.Gly878Ala)
n.3229G>C
c.2924G>C (p.Gly975Ala)
c.2990G>C (p.Gly997Ala)
c.2942G>C (p.Gly981Ala)
c.2807G>C (p.Gly936Ala)
c.2896-90G>C (n.2896-90G>C)
16g.28836033G>TCA395409131ATXN2Lc.2996G>T (p.Gly999Val)
c.971G>T (p.Gly324Val)
n.3370G>T
c.191G>T (p.Gly64Val)
c.3014G>T (p.Gly1005Val)
c.2060G>T (n.2060G>T)
c.265G>T
c.974G>T (p.Gly325Val)
c.516G>T
c.3017G>T (p.Gly1006Val)
c.2999G>T (p.Gly1000Val)
c.2837G>T (p.Gly946Val)
c.2945G>T (p.Gly982Val)
c.2927G>T (p.Gly976Val)
c.2651G>T (p.Gly884Val)
n.3226G>T
c.2819G>T (p.Gly940Val)
c.2633G>T (p.Gly878Val)
n.3229G>T
c.2924G>T (p.Gly975Val)
c.2990G>T (p.Gly997Val)
c.2942G>T (p.Gly981Val)
c.2807G>T (p.Gly936Val)
c.2896-90G>T (n.2896-90G>T)
 gnomAD v4
16g.28836034G>ACA7985153ATXN2Lc.2997G>A (p.Gly999=)
c.972G>A (p.Gly324=)
n.3371G>A
c.192G>A (p.Gly64=)
c.3015G>A (p.Gly1005=)
c.2061G>A (n.2061G>A)
c.266G>A
c.975G>A (p.Gly325=)
c.517G>A
c.3018G>A (p.Gly1006=)
c.3000G>A (p.Gly1000=)
c.2838G>A (p.Gly946=)
c.2946G>A (p.Gly982=)
c.2928G>A (p.Gly976=)
c.2652G>A (p.Gly884=)
n.3227G>A
c.2820G>A (p.Gly940=)
c.2634G>A (p.Gly878=)
n.3230G>A
c.2925G>A (p.Gly975=)
c.2991G>A (p.Gly997=)
c.2943G>A (p.Gly981=)
c.2808G>A (p.Gly936=)
c.2896-89G>A (n.2896-89G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836034G>CCA7985152ATXN2Lc.2997G>C (p.Gly999=)
c.972G>C (p.Gly324=)
n.3371G>C
c.192G>C (p.Gly64=)
c.3015G>C (p.Gly1005=)
c.2061G>C (n.2061G>C)
c.266G>C
c.975G>C (p.Gly325=)
c.517G>C
c.3018G>C (p.Gly1006=)
c.3000G>C (p.Gly1000=)
c.2838G>C (p.Gly946=)
c.2946G>C (p.Gly982=)
c.2928G>C (p.Gly976=)
c.2652G>C (p.Gly884=)
n.3227G>C
c.2820G>C (p.Gly940=)
c.2634G>C (p.Gly878=)
n.3230G>C
c.2925G>C (p.Gly975=)
c.2991G>C (p.Gly997=)
c.2943G>C (p.Gly981=)
c.2808G>C (p.Gly936=)
c.2896-89G>C (n.2896-89G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836034G=CA2215806833ATXN2Lc.2997G= (p.Gly999=)
c.972G= (p.Gly324=)
n.3371G=
c.192G= (p.Gly64=)
c.3015G= (p.Gly1005=)
c.2061G= (n.2061G=)
c.266G=
c.975G= (p.Gly325=)
c.517G=
c.3018G= (p.Gly1006=)
c.3000G= (p.Gly1000=)
c.2838G= (p.Gly946=)
c.2946G= (p.Gly982=)
c.2928G= (p.Gly976=)
c.2652G= (p.Gly884=)
n.3227G=
c.2820G= (p.Gly940=)
c.2634G= (p.Gly878=)
n.3230G=
c.2925G= (p.Gly975=)
c.2991G= (p.Gly997=)
c.2943G= (p.Gly981=)
c.2808G= (p.Gly936=)
c.2896-89G= (n.2896-89G=)
16g.28836034G>TCA279230902ATXN2Lc.2997G>T (p.Gly999=)
c.972G>T (p.Gly324=)
n.3371G>T
c.192G>T (p.Gly64=)
c.3015G>T (p.Gly1005=)
c.2061G>T (n.2061G>T)
c.266G>T
c.975G>T (p.Gly325=)
c.517G>T
c.3018G>T (p.Gly1006=)
c.3000G>T (p.Gly1000=)
c.2838G>T (p.Gly946=)
c.2946G>T (p.Gly982=)
c.2928G>T (p.Gly976=)
c.2652G>T (p.Gly884=)
n.3227G>T
c.2820G>T (p.Gly940=)
c.2634G>T (p.Gly878=)
n.3230G>T
c.2925G>T (p.Gly975=)
c.2991G>T (p.Gly997=)
c.2943G>T (p.Gly981=)
c.2808G>T (p.Gly936=)
c.2896-89G>T (n.2896-89G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836034_28836035delinsGCCA2215806832ATXN2Lc.2997_2998delinsGC (p.Gly999=)
c.972_973delinsGC (p.Gly324=)
n.3371_3372delinsGC
c.192_193delinsGC (p.Gly64=)
c.3015_3016delinsGC (p.Gly1005=)
c.2061_2062delinsGC (n.2061_2062delinsGC)
c.266_267delinsGC
c.975_976delinsGC (p.Gly325=)
c.517_518delinsGC
c.3018_3019delinsGC (p.Gly1006=)
c.3000_3001delinsGC (p.Gly1000=)
c.2838_2839delinsGC (p.Gly946=)
c.2946_2947delinsGC (p.Gly982=)
c.2928_2929delinsGC (p.Gly976=)
c.2652_2653delinsGC (p.Gly884=)
n.3227_3228delinsGC
c.2820_2821delinsGC (p.Gly940=)
c.2634_2635delinsGC (p.Gly878=)
n.3230_3231delinsGC
c.2925_2926delinsGC (p.Gly975=)
c.2991_2992delinsGC (p.Gly997=)
c.2943_2944delinsGC (p.Gly981=)
c.2808_2809delinsGC (p.Gly936=)
c.2896-89_2896-88delinsGC (n.2896-89_2896-88delinsGC)
16g.28836039_28836056dupCA2632529252ATXN2Lc.3002_3019dup (p.Pro1006_Gln1007insProGlnGlyAlaValPro)
c.977_994dup (p.Pro331_Gln332insProGlnGlyAlaValPro)
n.3376_3393dup
c.197_214dup (p.Pro71_Gln72insProGlnGlyAlaValPro)
c.3020_3037dup (p.Pro1012_Gln1013insProGlnGlyAlaValPro)
c.2066_2083dup (n.2066_2083dup)
c.271_288dup
c.980_997dup (p.Pro332_Gln333insProGlnGlyAlaValPro)
c.522_539dup
c.3023_3040dup (p.Pro1013_Gln1014insProGlnGlyAlaValPro)
c.3005_3022dup (p.Pro1007_Gln1008insProGlnGlyAlaValPro)
c.2843_2860dup (p.Pro953_Gln954insProGlnGlyAlaValPro)
c.2951_2968dup (p.Pro989_Gln990insProGlnGlyAlaValPro)
c.2933_2950dup (p.Pro983_Gln984insProGlnGlyAlaValPro)
c.2657_2674dup (p.Pro891_Gln892insProGlnGlyAlaValPro)
n.3232_3249dup
c.2825_2842dup (p.Pro947_Gln948insProGlnGlyAlaValPro)
c.2639_2656dup (p.Pro885_Gln886insProGlnGlyAlaValPro)
n.3235_3252dup
c.2930_2947dup (p.Pro982_Gln983insProGlnGlyAlaValPro)
c.2996_3013dup (p.Pro1004_Gln1005insProGlnGlyAlaValPro)
c.2948_2965dup (p.Pro988_Gln989insProGlnGlyAlaValPro)
c.2813_2830dup (p.Pro943_Gln944insProGlnGlyAlaValPro)
c.2896-84_2896-67dup (n.2896-84_2896-67dup)
 gnomAD v4
16g.28836035C>ACA395409137ATXN2Lc.2998C>A (p.Pro1000Thr)
c.973C>A (p.Pro325Thr)
n.3372C>A
c.193C>A (p.Pro65Thr)
c.3016C>A (p.Pro1006Thr)
c.2062C>A (n.2062C>A)
c.267C>A
c.976C>A (p.Pro326Thr)
c.518C>A
c.3019C>A (p.Pro1007Thr)
c.3001C>A (p.Pro1001Thr)
c.2839C>A (p.Pro947Thr)
c.2947C>A (p.Pro983Thr)
c.2929C>A (p.Pro977Thr)
c.2653C>A (p.Pro885Thr)
n.3228C>A
c.2821C>A (p.Pro941Thr)
c.2635C>A (p.Pro879Thr)
n.3231C>A
c.2926C>A (p.Pro976Thr)
c.2992C>A (p.Pro998Thr)
c.2944C>A (p.Pro982Thr)
c.2809C>A (p.Pro937Thr)
c.2896-88C>A (n.2896-88C>A)
 gnomAD v4
16g.28836035C=CA2215806841ATXN2Lc.2998C= (p.Pro1000=)
c.973C= (p.Pro325=)
n.3372C=
c.193C= (p.Pro65=)
c.3016C= (p.Pro1006=)
c.2062C= (n.2062C=)
c.267C=
c.976C= (p.Pro326=)
c.518C=
c.3019C= (p.Pro1007=)
c.3001C= (p.Pro1001=)
c.2839C= (p.Pro947=)
c.2947C= (p.Pro983=)
c.2929C= (p.Pro977=)
c.2653C= (p.Pro885=)
n.3228C=
c.2821C= (p.Pro941=)
c.2635C= (p.Pro879=)
n.3231C=
c.2926C= (p.Pro976=)
c.2992C= (p.Pro998=)
c.2944C= (p.Pro982=)
c.2809C= (p.Pro937=)
c.2896-88C= (n.2896-88C=)
16g.28836035C>GCA395409139ATXN2Lc.2998C>G (p.Pro1000Ala)
c.973C>G (p.Pro325Ala)
n.3372C>G
c.193C>G (p.Pro65Ala)
c.3016C>G (p.Pro1006Ala)
c.2062C>G (n.2062C>G)
c.267C>G
c.976C>G (p.Pro326Ala)
c.518C>G
c.3019C>G (p.Pro1007Ala)
c.3001C>G (p.Pro1001Ala)
c.2839C>G (p.Pro947Ala)
c.2947C>G (p.Pro983Ala)
c.2929C>G (p.Pro977Ala)
c.2653C>G (p.Pro885Ala)
n.3228C>G
c.2821C>G (p.Pro941Ala)
c.2635C>G (p.Pro879Ala)
n.3231C>G
c.2926C>G (p.Pro976Ala)
c.2992C>G (p.Pro998Ala)
c.2944C>G (p.Pro982Ala)
c.2809C>G (p.Pro937Ala)
c.2896-88C>G (n.2896-88C>G)
 dbSNP gnomAD v4
16g.28836035C>TCA395409140ATXN2Lc.2998C>T (p.Pro1000Ser)
c.973C>T (p.Pro325Ser)
n.3372C>T
c.193C>T (p.Pro65Ser)
c.3016C>T (p.Pro1006Ser)
c.2062C>T (n.2062C>T)
c.267C>T
c.976C>T (p.Pro326Ser)
c.518C>T
c.3019C>T (p.Pro1007Ser)
c.3001C>T (p.Pro1001Ser)
c.2839C>T (p.Pro947Ser)
c.2947C>T (p.Pro983Ser)
c.2929C>T (p.Pro977Ser)
c.2653C>T (p.Pro885Ser)
n.3228C>T
c.2821C>T (p.Pro941Ser)
c.2635C>T (p.Pro879Ser)
n.3231C>T
c.2926C>T (p.Pro976Ser)
c.2992C>T (p.Pro998Ser)
c.2944C>T (p.Pro982Ser)
c.2809C>T (p.Pro937Ser)
c.2896-88C>T (n.2896-88C>T)
 gnomAD v4
16g.28836041dupCA7985151ATXN2Lc.3004dup (p.Gln1002ProfsTer29)
c.3004dup (p.Gln1002ProfsTer?)
c.979dup (p.Gln327ProfsTer29)
n.3378dup
c.199dup (p.Gln67ProfsTer?)
c.3022dup (p.Gln1008ProfsTer29)
c.2068dup (n.2068dup)
c.273dup
c.982dup (p.Gln328ProfsTer29)
c.524dup
c.3025dup (p.Gln1009ProfsTer29)
c.3007dup (p.Gln1003ProfsTer29)
c.3025dup (p.Gln1009ProfsTer30)
c.3025dup (p.Gln1009ProfsTer?)
c.3022dup (p.Gln1008ProfsTer?)
c.2845dup (p.Gln949ProfsTer29)
c.2953dup (p.Gln985ProfsTer29)
c.2935dup (p.Gln979ProfsTer29)
c.2659dup (p.Gln887ProfsTer29)
n.3234dup
c.2827dup (p.Gln943ProfsTer29)
c.2641dup (p.Gln881ProfsTer29)
n.3237dup
c.3022dup (p.Gln1008ProfsTer30)
c.3007dup (p.Gln1003ProfsTer30)
c.3004dup (p.Gln1002ProfsTer30)
c.2932dup (p.Gln978ProfsTer29)
c.2998dup (p.Gln1000ProfsTer29)
c.2932dup (p.Gln978ProfsTer30)
c.3007dup (p.Gln1003ProfsTer?)
c.2950dup (p.Gln984ProfsTer29)
c.2935dup (p.Gln979ProfsTer?)
c.2950dup (p.Gln984ProfsTer?)
c.2932dup (p.Gln978ProfsTer?)
c.2815dup (p.Gln939ProfsTer29)
c.2896-82dup (n.2896-82dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836040_28836041dupCA2806421858ATXN2Lc.3003_3004dup (p.Gln1002ProfsTer?)
c.978_979dup (p.Gln327ProfsTer?)
n.3377_3378dup
c.198_199dup (p.Gln67ProfsTer?)
c.3021_3022dup (p.Gln1008ProfsTer?)
c.2067_2068dup (n.2067_2068dup)
c.272_273dup
c.981_982dup (p.Gln328ProfsTer?)
c.523_524dup
c.3024_3025dup (p.Gln1009ProfsTer?)
c.3006_3007dup (p.Gln1003ProfsTer?)
c.2844_2845dup (p.Gln949ProfsTer?)
c.2952_2953dup (p.Gln985ProfsTer?)
c.2934_2935dup (p.Gln979ProfsTer?)
c.2658_2659dup (p.Gln887ProfsTer?)
n.3233_3234dup
c.2826_2827dup (p.Gln943ProfsTer?)
c.2640_2641dup (p.Gln881ProfsTer?)
n.3236_3237dup
c.2931_2932dup (p.Gln978ProfsTer?)
c.2997_2998dup (p.Gln1000ProfsTer?)
c.2949_2950dup (p.Gln984ProfsTer?)
c.2814_2815dup (p.Gln939ProfsTer?)
c.2896-83_2896-82dup (n.2896-83_2896-82dup)
16g.28836041delCA494869091ATXN2Lc.3004del (p.Gln1002LysfsTer?)
c.979del (p.Gln327LysfsTer?)
n.3378del
c.199del (p.Gln67LysfsTer?)
c.3022del (p.Gln1008LysfsTer?)
c.2068del (n.2068del)
c.273del
c.982del (p.Gln328LysfsTer?)
c.524del
c.3025del (p.Gln1009LysfsTer?)
c.3007del (p.Gln1003LysfsTer?)
c.2845del (p.Gln949LysfsTer?)
c.2953del (p.Gln985LysfsTer?)
c.2935del (p.Gln979LysfsTer?)
c.2659del (p.Gln887LysfsTer?)
n.3234del
c.2827del (p.Gln943LysfsTer?)
c.2641del (p.Gln881LysfsTer?)
n.3237del
c.2932del (p.Gln978LysfsTer?)
c.2998del (p.Gln1000LysfsTer?)
c.2950del (p.Gln984LysfsTer?)
c.2815del (p.Gln939LysfsTer?)
c.2896-82del (n.2896-82del)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched