Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28835660C>ACA395408289ATXN2Lc.2797C>A (p.Gln933Lys)
c.772C>A (p.Gln258Lys)
n.3171C>A
c.2815C>A (p.Gln939Lys)
c.1861C>A (n.1861C>A)
c.66C>A
c.775C>A (p.Gln259Lys)
c.317C>A
c.2818C>A (p.Gln940Lys)
c.2800C>A (p.Gln934Lys)
c.2638C>A (p.Gln880Lys)
c.2746C>A (p.Gln916Lys)
c.2728C>A (p.Gln910Lys)
c.2452C>A (p.Gln818Lys)
n.3027C>A
c.2620C>A (p.Gln874Lys)
c.2434C>A (p.Gln812Lys)
n.3030C>A
c.2725C>A (p.Gln909Lys)
c.2791C>A (p.Gln931Lys)
c.2743C>A (p.Gln915Lys)
c.2608C>A (p.Gln870Lys)
16g.28835660C>GCA395408290ATXN2Lc.2797C>G (p.Gln933Glu)
c.772C>G (p.Gln258Glu)
n.3171C>G
c.2815C>G (p.Gln939Glu)
c.1861C>G (n.1861C>G)
c.66C>G
c.775C>G (p.Gln259Glu)
c.317C>G
c.2818C>G (p.Gln940Glu)
c.2800C>G (p.Gln934Glu)
c.2638C>G (p.Gln880Glu)
c.2746C>G (p.Gln916Glu)
c.2728C>G (p.Gln910Glu)
c.2452C>G (p.Gln818Glu)
n.3027C>G
c.2620C>G (p.Gln874Glu)
c.2434C>G (p.Gln812Glu)
n.3030C>G
c.2725C>G (p.Gln909Glu)
c.2791C>G (p.Gln931Glu)
c.2743C>G (p.Gln915Glu)
c.2608C>G (p.Gln870Glu)
16g.28835660C>TCA395408291ATXN2Lc.2797C>T (p.Gln933Ter)
c.772C>T (p.Gln258Ter)
n.3171C>T
c.2815C>T (p.Gln939Ter)
c.1861C>T (n.1861C>T)
c.66C>T
c.775C>T (p.Gln259Ter)
c.317C>T
c.2818C>T (p.Gln940Ter)
c.2800C>T (p.Gln934Ter)
c.2638C>T (p.Gln880Ter)
c.2746C>T (p.Gln916Ter)
c.2728C>T (p.Gln910Ter)
c.2452C>T (p.Gln818Ter)
n.3027C>T
c.2620C>T (p.Gln874Ter)
c.2434C>T (p.Gln812Ter)
n.3030C>T
c.2725C>T (p.Gln909Ter)
c.2791C>T (p.Gln931Ter)
c.2743C>T (p.Gln915Ter)
c.2608C>T (p.Gln870Ter)
16g.28835661A>CCA395408292ATXN2Lc.2798A>C (p.Gln933Pro)
c.773A>C (p.Gln258Pro)
n.3172A>C
c.2816A>C (p.Gln939Pro)
c.1862A>C (n.1862A>C)
c.67A>C
c.776A>C (p.Gln259Pro)
c.318A>C
c.2819A>C (p.Gln940Pro)
c.2801A>C (p.Gln934Pro)
c.2639A>C (p.Gln880Pro)
c.2747A>C (p.Gln916Pro)
c.2729A>C (p.Gln910Pro)
c.2453A>C (p.Gln818Pro)
n.3028A>C
c.2621A>C (p.Gln874Pro)
c.2435A>C (p.Gln812Pro)
n.3031A>C
c.2726A>C (p.Gln909Pro)
c.2792A>C (p.Gln931Pro)
c.2744A>C (p.Gln915Pro)
c.2609A>C (p.Gln870Pro)
16g.28835661A>GCA395408293ATXN2Lc.2798A>G (p.Gln933Arg)
c.773A>G (p.Gln258Arg)
n.3172A>G
c.2816A>G (p.Gln939Arg)
c.1862A>G (n.1862A>G)
c.67A>G
c.776A>G (p.Gln259Arg)
c.318A>G
c.2819A>G (p.Gln940Arg)
c.2801A>G (p.Gln934Arg)
c.2639A>G (p.Gln880Arg)
c.2747A>G (p.Gln916Arg)
c.2729A>G (p.Gln910Arg)
c.2453A>G (p.Gln818Arg)
n.3028A>G
c.2621A>G (p.Gln874Arg)
c.2435A>G (p.Gln812Arg)
n.3031A>G
c.2726A>G (p.Gln909Arg)
c.2792A>G (p.Gln931Arg)
c.2744A>G (p.Gln915Arg)
c.2609A>G (p.Gln870Arg)
 gnomAD v4
16g.28835661A>TCA395408294ATXN2Lc.2798A>T (p.Gln933Leu)
c.773A>T (p.Gln258Leu)
n.3172A>T
c.2816A>T (p.Gln939Leu)
c.1862A>T (n.1862A>T)
c.67A>T
c.776A>T (p.Gln259Leu)
c.318A>T
c.2819A>T (p.Gln940Leu)
c.2801A>T (p.Gln934Leu)
c.2639A>T (p.Gln880Leu)
c.2747A>T (p.Gln916Leu)
c.2729A>T (p.Gln910Leu)
c.2453A>T (p.Gln818Leu)
n.3028A>T
c.2621A>T (p.Gln874Leu)
c.2435A>T (p.Gln812Leu)
n.3031A>T
c.2726A>T (p.Gln909Leu)
c.2792A>T (p.Gln931Leu)
c.2744A>T (p.Gln915Leu)
c.2609A>T (p.Gln870Leu)
16g.28835662G>ACA494868948ATXN2Lc.2799G>A (p.Gln933=)
c.774G>A (p.Gln258=)
n.3173G>A
c.2817G>A (p.Gln939=)
c.1863G>A (n.1863G>A)
c.68G>A
c.777G>A (p.Gln259=)
c.319G>A
c.2820G>A (p.Gln940=)
c.2802G>A (p.Gln934=)
c.2640G>A (p.Gln880=)
c.2748G>A (p.Gln916=)
c.2730G>A (p.Gln910=)
c.2454G>A (p.Gln818=)
n.3029G>A
c.2622G>A (p.Gln874=)
c.2436G>A (p.Gln812=)
n.3032G>A
c.2727G>A (p.Gln909=)
c.2793G>A (p.Gln931=)
c.2745G>A (p.Gln915=)
c.2610G>A (p.Gln870=)
16g.28835662G>CCA395408295ATXN2Lc.2799G>C (p.Gln933His)
c.774G>C (p.Gln258His)
n.3173G>C
c.2817G>C (p.Gln939His)
c.1863G>C (n.1863G>C)
c.68G>C
c.777G>C (p.Gln259His)
c.319G>C
c.2820G>C (p.Gln940His)
c.2802G>C (p.Gln934His)
c.2640G>C (p.Gln880His)
c.2748G>C (p.Gln916His)
c.2730G>C (p.Gln910His)
c.2454G>C (p.Gln818His)
n.3029G>C
c.2622G>C (p.Gln874His)
c.2436G>C (p.Gln812His)
n.3032G>C
c.2727G>C (p.Gln909His)
c.2793G>C (p.Gln931His)
c.2745G>C (p.Gln915His)
c.2610G>C (p.Gln870His)
 gnomAD v4
16g.28835662G>TCA395408296ATXN2Lc.2799G>T (p.Gln933His)
c.774G>T (p.Gln258His)
n.3173G>T
c.2817G>T (p.Gln939His)
c.1863G>T (n.1863G>T)
c.68G>T
c.777G>T (p.Gln259His)
c.319G>T
c.2820G>T (p.Gln940His)
c.2802G>T (p.Gln934His)
c.2640G>T (p.Gln880His)
c.2748G>T (p.Gln916His)
c.2730G>T (p.Gln910His)
c.2454G>T (p.Gln818His)
n.3029G>T
c.2622G>T (p.Gln874His)
c.2436G>T (p.Gln812His)
n.3032G>T
c.2727G>T (p.Gln909His)
c.2793G>T (p.Gln931His)
c.2745G>T (p.Gln915His)
c.2610G>T (p.Gln870His)
16g.28835663T>ACA395408297ATXN2Lc.2800T>A (p.Ser934Thr)
c.775T>A (p.Ser259Thr)
n.3174T>A
c.2818T>A (p.Ser940Thr)
c.1864T>A (n.1864T>A)
c.69T>A
c.778T>A (p.Ser260Thr)
c.320T>A
c.2821T>A (p.Ser941Thr)
c.2803T>A (p.Ser935Thr)
c.2641T>A (p.Ser881Thr)
c.2749T>A (p.Ser917Thr)
c.2731T>A (p.Ser911Thr)
c.2455T>A (p.Ser819Thr)
n.3030T>A
c.2623T>A (p.Ser875Thr)
c.2437T>A (p.Ser813Thr)
n.3033T>A
c.2728T>A (p.Ser910Thr)
c.2794T>A (p.Ser932Thr)
c.2746T>A (p.Ser916Thr)
c.2611T>A (p.Ser871Thr)
16g.28835663T>CCA395408298ATXN2Lc.2800T>C (p.Ser934Pro)
c.775T>C (p.Ser259Pro)
n.3174T>C
c.2818T>C (p.Ser940Pro)
c.1864T>C (n.1864T>C)
c.69T>C
c.778T>C (p.Ser260Pro)
c.320T>C
c.2821T>C (p.Ser941Pro)
c.2803T>C (p.Ser935Pro)
c.2641T>C (p.Ser881Pro)
c.2749T>C (p.Ser917Pro)
c.2731T>C (p.Ser911Pro)
c.2455T>C (p.Ser819Pro)
n.3030T>C
c.2623T>C (p.Ser875Pro)
c.2437T>C (p.Ser813Pro)
n.3033T>C
c.2728T>C (p.Ser910Pro)
c.2794T>C (p.Ser932Pro)
c.2746T>C (p.Ser916Pro)
c.2611T>C (p.Ser871Pro)
 gnomAD v4
16g.28835663T>GCA7985095ATXN2Lc.2800T>G (p.Ser934Ala)
c.775T>G (p.Ser259Ala)
n.3174T>G
c.2818T>G (p.Ser940Ala)
c.1864T>G (n.1864T>G)
c.69T>G
c.778T>G (p.Ser260Ala)
c.320T>G
c.2821T>G (p.Ser941Ala)
c.2803T>G (p.Ser935Ala)
c.2641T>G (p.Ser881Ala)
c.2749T>G (p.Ser917Ala)
c.2731T>G (p.Ser911Ala)
c.2455T>G (p.Ser819Ala)
n.3030T>G
c.2623T>G (p.Ser875Ala)
c.2437T>G (p.Ser813Ala)
n.3033T>G
c.2728T>G (p.Ser910Ala)
c.2794T>G (p.Ser932Ala)
c.2746T>G (p.Ser916Ala)
c.2611T>G (p.Ser871Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835663T=CA2215806409ATXN2Lc.2800T= (p.Ser934=)
c.775T= (p.Ser259=)
n.3174T=
c.2818T= (p.Ser940=)
c.1864T= (n.1864T=)
c.69T=
c.778T= (p.Ser260=)
c.320T=
c.2821T= (p.Ser941=)
c.2803T= (p.Ser935=)
c.2641T= (p.Ser881=)
c.2749T= (p.Ser917=)
c.2731T= (p.Ser911=)
c.2455T= (p.Ser819=)
n.3030T=
c.2623T= (p.Ser875=)
c.2437T= (p.Ser813=)
n.3033T=
c.2728T= (p.Ser910=)
c.2794T= (p.Ser932=)
c.2746T= (p.Ser916=)
c.2611T= (p.Ser871=)
16g.28835664C>ACA395408301ATXN2Lc.2801C>A (p.Ser934Tyr)
c.776C>A (p.Ser259Tyr)
n.3175C>A
c.2819C>A (p.Ser940Tyr)
c.1865C>A (n.1865C>A)
c.70C>A
c.779C>A (p.Ser260Tyr)
c.321C>A
c.2822C>A (p.Ser941Tyr)
c.2804C>A (p.Ser935Tyr)
c.2642C>A (p.Ser881Tyr)
c.2750C>A (p.Ser917Tyr)
c.2732C>A (p.Ser911Tyr)
c.2456C>A (p.Ser819Tyr)
n.3031C>A
c.2624C>A (p.Ser875Tyr)
c.2438C>A (p.Ser813Tyr)
n.3034C>A
c.2729C>A (p.Ser910Tyr)
c.2795C>A (p.Ser932Tyr)
c.2747C>A (p.Ser916Tyr)
c.2612C>A (p.Ser871Tyr)
 gnomAD v4
16g.28835664C>GCA395408300ATXN2Lc.2801C>G (p.Ser934Cys)
c.776C>G (p.Ser259Cys)
n.3175C>G
c.2819C>G (p.Ser940Cys)
c.1865C>G (n.1865C>G)
c.70C>G
c.779C>G (p.Ser260Cys)
c.321C>G
c.2822C>G (p.Ser941Cys)
c.2804C>G (p.Ser935Cys)
c.2642C>G (p.Ser881Cys)
c.2750C>G (p.Ser917Cys)
c.2732C>G (p.Ser911Cys)
c.2456C>G (p.Ser819Cys)
n.3031C>G
c.2624C>G (p.Ser875Cys)
c.2438C>G (p.Ser813Cys)
n.3034C>G
c.2729C>G (p.Ser910Cys)
c.2795C>G (p.Ser932Cys)
c.2747C>G (p.Ser916Cys)
c.2612C>G (p.Ser871Cys)
16g.28835664C>TCA395408299ATXN2Lc.2801C>T (p.Ser934Phe)
c.776C>T (p.Ser259Phe)
n.3175C>T
c.2819C>T (p.Ser940Phe)
c.1865C>T (n.1865C>T)
c.70C>T
c.779C>T (p.Ser260Phe)
c.321C>T
c.2822C>T (p.Ser941Phe)
c.2804C>T (p.Ser935Phe)
c.2642C>T (p.Ser881Phe)
c.2750C>T (p.Ser917Phe)
c.2732C>T (p.Ser911Phe)
c.2456C>T (p.Ser819Phe)
n.3031C>T
c.2624C>T (p.Ser875Phe)
c.2438C>T (p.Ser813Phe)
n.3034C>T
c.2729C>T (p.Ser910Phe)
c.2795C>T (p.Ser932Phe)
c.2747C>T (p.Ser916Phe)
c.2612C>T (p.Ser871Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835665C>ACA494868967ATXN2Lc.2802C>A (p.Ser934=)
c.777C>A (p.Ser259=)
n.3176C>A
c.2820C>A (p.Ser940=)
c.1866C>A (n.1866C>A)
c.71C>A
c.780C>A (p.Ser260=)
c.322C>A
c.2823C>A (p.Ser941=)
c.2805C>A (p.Ser935=)
c.2643C>A (p.Ser881=)
c.2751C>A (p.Ser917=)
c.2733C>A (p.Ser911=)
c.2457C>A (p.Ser819=)
n.3032C>A
c.2625C>A (p.Ser875=)
c.2439C>A (p.Ser813=)
n.3035C>A
c.2730C>A (p.Ser910=)
c.2796C>A (p.Ser932=)
c.2748C>A (p.Ser916=)
c.2613C>A (p.Ser871=)
16g.28835665C>GCA494868970ATXN2Lc.2802C>G (p.Ser934=)
c.777C>G (p.Ser259=)
n.3176C>G
c.2820C>G (p.Ser940=)
c.1866C>G (n.1866C>G)
c.71C>G
c.780C>G (p.Ser260=)
c.322C>G
c.2823C>G (p.Ser941=)
c.2805C>G (p.Ser935=)
c.2643C>G (p.Ser881=)
c.2751C>G (p.Ser917=)
c.2733C>G (p.Ser911=)
c.2457C>G (p.Ser819=)
n.3032C>G
c.2625C>G (p.Ser875=)
c.2439C>G (p.Ser813=)
n.3035C>G
c.2730C>G (p.Ser910=)
c.2796C>G (p.Ser932=)
c.2748C>G (p.Ser916=)
c.2613C>G (p.Ser871=)
 gnomAD v4
16g.28835665C>TCA494868982ATXN2Lc.2802C>T (p.Ser934=)
c.777C>T (p.Ser259=)
n.3176C>T
c.2820C>T (p.Ser940=)
c.1866C>T (n.1866C>T)
c.71C>T
c.780C>T (p.Ser260=)
c.322C>T
c.2823C>T (p.Ser941=)
c.2805C>T (p.Ser935=)
c.2643C>T (p.Ser881=)
c.2751C>T (p.Ser917=)
c.2733C>T (p.Ser911=)
c.2457C>T (p.Ser819=)
n.3032C>T
c.2625C>T (p.Ser875=)
c.2439C>T (p.Ser813=)
n.3035C>T
c.2730C>T (p.Ser910=)
c.2796C>T (p.Ser932=)
c.2748C>T (p.Ser916=)
c.2613C>T (p.Ser871=)
 gnomAD v4
16g.28835666C>ACA395408302ATXN2Lc.2803C>A (p.Pro935Thr)
c.778C>A (p.Pro260Thr)
n.3177C>A
c.2821C>A (p.Pro941Thr)
c.1867C>A (n.1867C>A)
c.72C>A
c.781C>A (p.Pro261Thr)
c.323C>A
c.2824C>A (p.Pro942Thr)
c.2806C>A (p.Pro936Thr)
c.2644C>A (p.Pro882Thr)
c.2752C>A (p.Pro918Thr)
c.2734C>A (p.Pro912Thr)
c.2458C>A (p.Pro820Thr)
n.3033C>A
c.2626C>A (p.Pro876Thr)
c.2440C>A (p.Pro814Thr)
n.3036C>A
c.2731C>A (p.Pro911Thr)
c.2797C>A (p.Pro933Thr)
c.2749C>A (p.Pro917Thr)
c.2614C>A (p.Pro872Thr)
16g.28835666C>GCA395408303ATXN2Lc.2803C>G (p.Pro935Ala)
c.778C>G (p.Pro260Ala)
n.3177C>G
c.2821C>G (p.Pro941Ala)
c.1867C>G (n.1867C>G)
c.72C>G
c.781C>G (p.Pro261Ala)
c.323C>G
c.2824C>G (p.Pro942Ala)
c.2806C>G (p.Pro936Ala)
c.2644C>G (p.Pro882Ala)
c.2752C>G (p.Pro918Ala)
c.2734C>G (p.Pro912Ala)
c.2458C>G (p.Pro820Ala)
n.3033C>G
c.2626C>G (p.Pro876Ala)
c.2440C>G (p.Pro814Ala)
n.3036C>G
c.2731C>G (p.Pro911Ala)
c.2797C>G (p.Pro933Ala)
c.2749C>G (p.Pro917Ala)
c.2614C>G (p.Pro872Ala)
 gnomAD v4
16g.28835666C>TCA395408304ATXN2Lc.2803C>T (p.Pro935Ser)
c.778C>T (p.Pro260Ser)
n.3177C>T
c.2821C>T (p.Pro941Ser)
c.1867C>T (n.1867C>T)
c.72C>T
c.781C>T (p.Pro261Ser)
c.323C>T
c.2824C>T (p.Pro942Ser)
c.2806C>T (p.Pro936Ser)
c.2644C>T (p.Pro882Ser)
c.2752C>T (p.Pro918Ser)
c.2734C>T (p.Pro912Ser)
c.2458C>T (p.Pro820Ser)
n.3033C>T
c.2626C>T (p.Pro876Ser)
c.2440C>T (p.Pro814Ser)
n.3036C>T
c.2731C>T (p.Pro911Ser)
c.2797C>T (p.Pro933Ser)
c.2749C>T (p.Pro917Ser)
c.2614C>T (p.Pro872Ser)
 COSMIC COSMIC COSMIC COSMIC
16g.28835667C>ACA395408305ATXN2Lc.2804C>A (p.Pro935His)
c.779C>A (p.Pro260His)
n.3178C>A
c.2822C>A (p.Pro941His)
c.1868C>A (n.1868C>A)
c.73C>A
c.782C>A (p.Pro261His)
c.324C>A
c.2825C>A (p.Pro942His)
c.2807C>A (p.Pro936His)
c.2645C>A (p.Pro882His)
c.2753C>A (p.Pro918His)
c.2735C>A (p.Pro912His)
c.2459C>A (p.Pro820His)
n.3034C>A
c.2627C>A (p.Pro876His)
c.2441C>A (p.Pro814His)
n.3037C>A
c.2732C>A (p.Pro911His)
c.2798C>A (p.Pro933His)
c.2750C>A (p.Pro917His)
c.2615C>A (p.Pro872His)
 COSMIC COSMIC
16g.28835667C>GCA395408306ATXN2Lc.2804C>G (p.Pro935Arg)
c.779C>G (p.Pro260Arg)
n.3178C>G
c.2822C>G (p.Pro941Arg)
c.1868C>G (n.1868C>G)
c.73C>G
c.782C>G (p.Pro261Arg)
c.324C>G
c.2825C>G (p.Pro942Arg)
c.2807C>G (p.Pro936Arg)
c.2645C>G (p.Pro882Arg)
c.2753C>G (p.Pro918Arg)
c.2735C>G (p.Pro912Arg)
c.2459C>G (p.Pro820Arg)
n.3034C>G
c.2627C>G (p.Pro876Arg)
c.2441C>G (p.Pro814Arg)
n.3037C>G
c.2732C>G (p.Pro911Arg)
c.2798C>G (p.Pro933Arg)
c.2750C>G (p.Pro917Arg)
c.2615C>G (p.Pro872Arg)
16g.28835667C>TCA395408307ATXN2Lc.2804C>T (p.Pro935Leu)
c.779C>T (p.Pro260Leu)
n.3178C>T
c.2822C>T (p.Pro941Leu)
c.1868C>T (n.1868C>T)
c.73C>T
c.782C>T (p.Pro261Leu)
c.324C>T
c.2825C>T (p.Pro942Leu)
c.2807C>T (p.Pro936Leu)
c.2645C>T (p.Pro882Leu)
c.2753C>T (p.Pro918Leu)
c.2735C>T (p.Pro912Leu)
c.2459C>T (p.Pro820Leu)
n.3034C>T
c.2627C>T (p.Pro876Leu)
c.2441C>T (p.Pro814Leu)
n.3037C>T
c.2732C>T (p.Pro911Leu)
c.2798C>T (p.Pro933Leu)
c.2750C>T (p.Pro917Leu)
c.2615C>T (p.Pro872Leu)
16g.28835668T>ACA494869002ATXN2Lc.2805T>A (p.Pro935=)
c.780T>A (p.Pro260=)
n.3179T>A
c.2823T>A (p.Pro941=)
c.1869T>A (n.1869T>A)
c.74T>A
c.783T>A (p.Pro261=)
c.325T>A
c.2826T>A (p.Pro942=)
c.2808T>A (p.Pro936=)
c.2646T>A (p.Pro882=)
c.2754T>A (p.Pro918=)
c.2736T>A (p.Pro912=)
c.2460T>A (p.Pro820=)
n.3035T>A
c.2628T>A (p.Pro876=)
c.2442T>A (p.Pro814=)
n.3038T>A
c.2733T>A (p.Pro911=)
c.2799T>A (p.Pro933=)
c.2751T>A (p.Pro917=)
c.2616T>A (p.Pro872=)
16g.28835668T>CCA494869006ATXN2Lc.2805T>C (p.Pro935=)
c.780T>C (p.Pro260=)
n.3179T>C
c.2823T>C (p.Pro941=)
c.1869T>C (n.1869T>C)
c.74T>C
c.783T>C (p.Pro261=)
c.325T>C
c.2826T>C (p.Pro942=)
c.2808T>C (p.Pro936=)
c.2646T>C (p.Pro882=)
c.2754T>C (p.Pro918=)
c.2736T>C (p.Pro912=)
c.2460T>C (p.Pro820=)
n.3035T>C
c.2628T>C (p.Pro876=)
c.2442T>C (p.Pro814=)
n.3038T>C
c.2733T>C (p.Pro911=)
c.2799T>C (p.Pro933=)
c.2751T>C (p.Pro917=)
c.2616T>C (p.Pro872=)
16g.28835668T>GCA494869011ATXN2Lc.2805T>G (p.Pro935=)
c.780T>G (p.Pro260=)
n.3179T>G
c.2823T>G (p.Pro941=)
c.1869T>G (n.1869T>G)
c.74T>G
c.783T>G (p.Pro261=)
c.325T>G
c.2826T>G (p.Pro942=)
c.2808T>G (p.Pro936=)
c.2646T>G (p.Pro882=)
c.2754T>G (p.Pro918=)
c.2736T>G (p.Pro912=)
c.2460T>G (p.Pro820=)
n.3035T>G
c.2628T>G (p.Pro876=)
c.2442T>G (p.Pro814=)
n.3038T>G
c.2733T>G (p.Pro911=)
c.2799T>G (p.Pro933=)
c.2751T>G (p.Pro917=)
c.2616T>G (p.Pro872=)
16g.28835669C>ACA395408310ATXN2Lc.2806C>A (p.Gln936Lys)
c.781C>A (p.Gln261Lys)
n.3180C>A
c.1C>A (p.Gln1Lys)
c.2824C>A (p.Gln942Lys)
c.1870C>A (n.1870C>A)
c.75C>A
c.784C>A (p.Gln262Lys)
c.326C>A
c.2827C>A (p.Gln943Lys)
c.2809C>A (p.Gln937Lys)
c.2647C>A (p.Gln883Lys)
c.2755C>A (p.Gln919Lys)
c.2737C>A (p.Gln913Lys)
c.2461C>A (p.Gln821Lys)
n.3036C>A
c.2629C>A (p.Gln877Lys)
c.2443C>A (p.Gln815Lys)
n.3039C>A
c.2734C>A (p.Gln912Lys)
c.2800C>A (p.Gln934Lys)
c.2752C>A (p.Gln918Lys)
c.2617C>A (p.Gln873Lys)
16g.28835669C>GCA395408308ATXN2Lc.2806C>G (p.Gln936Glu)
c.781C>G (p.Gln261Glu)
n.3180C>G
c.1C>G (p.Gln1Glu)
c.2824C>G (p.Gln942Glu)
c.1870C>G (n.1870C>G)
c.75C>G
c.784C>G (p.Gln262Glu)
c.326C>G
c.2827C>G (p.Gln943Glu)
c.2809C>G (p.Gln937Glu)
c.2647C>G (p.Gln883Glu)
c.2755C>G (p.Gln919Glu)
c.2737C>G (p.Gln913Glu)
c.2461C>G (p.Gln821Glu)
n.3036C>G
c.2629C>G (p.Gln877Glu)
c.2443C>G (p.Gln815Glu)
n.3039C>G
c.2734C>G (p.Gln912Glu)
c.2800C>G (p.Gln934Glu)
c.2752C>G (p.Gln918Glu)
c.2617C>G (p.Gln873Glu)
16g.28835669C>TCA395408309ATXN2Lc.2806C>T (p.Gln936Ter)
c.781C>T (p.Gln261Ter)
n.3180C>T
c.1C>T (p.Gln1Ter)
c.2824C>T (p.Gln942Ter)
c.1870C>T (n.1870C>T)
c.75C>T
c.784C>T (p.Gln262Ter)
c.326C>T
c.2827C>T (p.Gln943Ter)
c.2809C>T (p.Gln937Ter)
c.2647C>T (p.Gln883Ter)
c.2755C>T (p.Gln919Ter)
c.2737C>T (p.Gln913Ter)
c.2461C>T (p.Gln821Ter)
n.3036C>T
c.2629C>T (p.Gln877Ter)
c.2443C>T (p.Gln815Ter)
n.3039C>T
c.2734C>T (p.Gln912Ter)
c.2800C>T (p.Gln934Ter)
c.2752C>T (p.Gln918Ter)
c.2617C>T (p.Gln873Ter)
16g.28835670A>CCA395408311ATXN2Lc.2807A>C (p.Gln936Pro)
c.782A>C (p.Gln261Pro)
n.3181A>C
c.2A>C (p.Gln1Pro)
c.2825A>C (p.Gln942Pro)
c.1871A>C (n.1871A>C)
c.76A>C
c.785A>C (p.Gln262Pro)
c.327A>C
c.2828A>C (p.Gln943Pro)
c.2810A>C (p.Gln937Pro)
c.2648A>C (p.Gln883Pro)
c.2756A>C (p.Gln919Pro)
c.2738A>C (p.Gln913Pro)
c.2462A>C (p.Gln821Pro)
n.3037A>C
c.2630A>C (p.Gln877Pro)
c.2444A>C (p.Gln815Pro)
n.3040A>C
c.2735A>C (p.Gln912Pro)
c.2801A>C (p.Gln934Pro)
c.2753A>C (p.Gln918Pro)
c.2618A>C (p.Gln873Pro)
16g.28835670A>GCA395408312ATXN2Lc.2807A>G (p.Gln936Arg)
c.782A>G (p.Gln261Arg)
n.3181A>G
c.2A>G (p.Gln1Arg)
c.2825A>G (p.Gln942Arg)
c.1871A>G (n.1871A>G)
c.76A>G
c.785A>G (p.Gln262Arg)
c.327A>G
c.2828A>G (p.Gln943Arg)
c.2810A>G (p.Gln937Arg)
c.2648A>G (p.Gln883Arg)
c.2756A>G (p.Gln919Arg)
c.2738A>G (p.Gln913Arg)
c.2462A>G (p.Gln821Arg)
n.3037A>G
c.2630A>G (p.Gln877Arg)
c.2444A>G (p.Gln815Arg)
n.3040A>G
c.2735A>G (p.Gln912Arg)
c.2801A>G (p.Gln934Arg)
c.2753A>G (p.Gln918Arg)
c.2618A>G (p.Gln873Arg)
16g.28835670A>TCA395408313ATXN2Lc.2807A>T (p.Gln936Leu)
c.782A>T (p.Gln261Leu)
n.3181A>T
c.2A>T (p.Gln1Leu)
c.2825A>T (p.Gln942Leu)
c.1871A>T (n.1871A>T)
c.76A>T
c.785A>T (p.Gln262Leu)
c.327A>T
c.2828A>T (p.Gln943Leu)
c.2810A>T (p.Gln937Leu)
c.2648A>T (p.Gln883Leu)
c.2756A>T (p.Gln919Leu)
c.2738A>T (p.Gln913Leu)
c.2462A>T (p.Gln821Leu)
n.3037A>T
c.2630A>T (p.Gln877Leu)
c.2444A>T (p.Gln815Leu)
n.3040A>T
c.2735A>T (p.Gln912Leu)
c.2801A>T (p.Gln934Leu)
c.2753A>T (p.Gln918Leu)
c.2618A>T (p.Gln873Leu)
16g.28835671G>ACA494869038ATXN2Lc.2808G>A (p.Gln936=)
c.783G>A (p.Gln261=)
n.3182G>A
c.3G>A (p.Gln1=)
c.2826G>A (p.Gln942=)
c.1872G>A (n.1872G>A)
c.77G>A
c.786G>A (p.Gln262=)
c.328G>A
c.2829G>A (p.Gln943=)
c.2811G>A (p.Gln937=)
c.2649G>A (p.Gln883=)
c.2757G>A (p.Gln919=)
c.2739G>A (p.Gln913=)
c.2463G>A (p.Gln821=)
n.3038G>A
c.2631G>A (p.Gln877=)
c.2445G>A (p.Gln815=)
n.3041G>A
c.2736G>A (p.Gln912=)
c.2802G>A (p.Gln934=)
c.2754G>A (p.Gln918=)
c.2619G>A (p.Gln873=)
16g.28835671G>CCA395408314ATXN2Lc.2808G>C (p.Gln936His)
c.783G>C (p.Gln261His)
n.3182G>C
c.3G>C (p.Gln1His)
c.2826G>C (p.Gln942His)
c.1872G>C (n.1872G>C)
c.77G>C
c.786G>C (p.Gln262His)
c.328G>C
c.2829G>C (p.Gln943His)
c.2811G>C (p.Gln937His)
c.2649G>C (p.Gln883His)
c.2757G>C (p.Gln919His)
c.2739G>C (p.Gln913His)
c.2463G>C (p.Gln821His)
n.3038G>C
c.2631G>C (p.Gln877His)
c.2445G>C (p.Gln815His)
n.3041G>C
c.2736G>C (p.Gln912His)
c.2802G>C (p.Gln934His)
c.2754G>C (p.Gln918His)
c.2619G>C (p.Gln873His)
16g.28835671G>TCA395408315ATXN2Lc.2808G>T (p.Gln936His)
c.783G>T (p.Gln261His)
n.3182G>T
c.3G>T (p.Gln1His)
c.2826G>T (p.Gln942His)
c.1872G>T (n.1872G>T)
c.77G>T
c.786G>T (p.Gln262His)
c.328G>T
c.2829G>T (p.Gln943His)
c.2811G>T (p.Gln937His)
c.2649G>T (p.Gln883His)
c.2757G>T (p.Gln919His)
c.2739G>T (p.Gln913His)
c.2463G>T (p.Gln821His)
n.3038G>T
c.2631G>T (p.Gln877His)
c.2445G>T (p.Gln815His)
n.3041G>T
c.2736G>T (p.Gln912His)
c.2802G>T (p.Gln934His)
c.2754G>T (p.Gln918His)
c.2619G>T (p.Gln873His)
16g.28835672A>CCA395408316ATXN2Lc.2809A>C (p.Ser937Arg)
c.784A>C (p.Ser262Arg)
n.3183A>C
c.4A>C (p.Ser2Arg)
c.2827A>C (p.Ser943Arg)
c.1873A>C (n.1873A>C)
c.78A>C
c.787A>C (p.Ser263Arg)
c.329A>C
c.2830A>C (p.Ser944Arg)
c.2812A>C (p.Ser938Arg)
c.2650A>C (p.Ser884Arg)
c.2758A>C (p.Ser920Arg)
c.2740A>C (p.Ser914Arg)
c.2464A>C (p.Ser822Arg)
n.3039A>C
c.2632A>C (p.Ser878Arg)
c.2446A>C (p.Ser816Arg)
n.3042A>C
c.2737A>C (p.Ser913Arg)
c.2803A>C (p.Ser935Arg)
c.2755A>C (p.Ser919Arg)
c.2620A>C (p.Ser874Arg)
16g.28835672A>GCA395408318ATXN2Lc.2809A>G (p.Ser937Gly)
c.784A>G (p.Ser262Gly)
n.3183A>G
c.4A>G (p.Ser2Gly)
c.2827A>G (p.Ser943Gly)
c.1873A>G (n.1873A>G)
c.78A>G
c.787A>G (p.Ser263Gly)
c.329A>G
c.2830A>G (p.Ser944Gly)
c.2812A>G (p.Ser938Gly)
c.2650A>G (p.Ser884Gly)
c.2758A>G (p.Ser920Gly)
c.2740A>G (p.Ser914Gly)
c.2464A>G (p.Ser822Gly)
n.3039A>G
c.2632A>G (p.Ser878Gly)
c.2446A>G (p.Ser816Gly)
n.3042A>G
c.2737A>G (p.Ser913Gly)
c.2803A>G (p.Ser935Gly)
c.2755A>G (p.Ser919Gly)
c.2620A>G (p.Ser874Gly)
16g.28835672A>TCA395408317ATXN2Lc.2809A>T (p.Ser937Cys)
c.784A>T (p.Ser262Cys)
n.3183A>T
c.4A>T (p.Ser2Cys)
c.2827A>T (p.Ser943Cys)
c.1873A>T (n.1873A>T)
c.78A>T
c.787A>T (p.Ser263Cys)
c.329A>T
c.2830A>T (p.Ser944Cys)
c.2812A>T (p.Ser938Cys)
c.2650A>T (p.Ser884Cys)
c.2758A>T (p.Ser920Cys)
c.2740A>T (p.Ser914Cys)
c.2464A>T (p.Ser822Cys)
n.3039A>T
c.2632A>T (p.Ser878Cys)
c.2446A>T (p.Ser816Cys)
n.3042A>T
c.2737A>T (p.Ser913Cys)
c.2803A>T (p.Ser935Cys)
c.2755A>T (p.Ser919Cys)
c.2620A>T (p.Ser874Cys)
16g.28835673G>ACA7985096ATXN2Lc.2810G>A (p.Ser937Asn)
c.785G>A (p.Ser262Asn)
n.3184G>A
c.5G>A (p.Ser2Asn)
c.2828G>A (p.Ser943Asn)
c.1874G>A (n.1874G>A)
c.79G>A
c.788G>A (p.Ser263Asn)
c.330G>A
c.2831G>A (p.Ser944Asn)
c.2813G>A (p.Ser938Asn)
c.2651G>A (p.Ser884Asn)
c.2759G>A (p.Ser920Asn)
c.2741G>A (p.Ser914Asn)
c.2465G>A (p.Ser822Asn)
n.3040G>A
c.2633G>A (p.Ser878Asn)
c.2447G>A (p.Ser816Asn)
n.3043G>A
c.2738G>A (p.Ser913Asn)
c.2804G>A (p.Ser935Asn)
c.2756G>A (p.Ser919Asn)
c.2621G>A (p.Ser874Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835673G>CCA395408319ATXN2Lc.2810G>C (p.Ser937Thr)
c.785G>C (p.Ser262Thr)
n.3184G>C
c.5G>C (p.Ser2Thr)
c.2828G>C (p.Ser943Thr)
c.1874G>C (n.1874G>C)
c.79G>C
c.788G>C (p.Ser263Thr)
c.330G>C
c.2831G>C (p.Ser944Thr)
c.2813G>C (p.Ser938Thr)
c.2651G>C (p.Ser884Thr)
c.2759G>C (p.Ser920Thr)
c.2741G>C (p.Ser914Thr)
c.2465G>C (p.Ser822Thr)
n.3040G>C
c.2633G>C (p.Ser878Thr)
c.2447G>C (p.Ser816Thr)
n.3043G>C
c.2738G>C (p.Ser913Thr)
c.2804G>C (p.Ser935Thr)
c.2756G>C (p.Ser919Thr)
c.2621G>C (p.Ser874Thr)
16g.28835673G=CA2215806414ATXN2Lc.2810G= (p.Ser937=)
c.785G= (p.Ser262=)
n.3184G=
c.5G= (p.Ser2=)
c.2828G= (p.Ser943=)
c.1874G= (n.1874G=)
c.79G=
c.788G= (p.Ser263=)
c.330G=
c.2831G= (p.Ser944=)
c.2813G= (p.Ser938=)
c.2651G= (p.Ser884=)
c.2759G= (p.Ser920=)
c.2741G= (p.Ser914=)
c.2465G= (p.Ser822=)
n.3040G=
c.2633G= (p.Ser878=)
c.2447G= (p.Ser816=)
n.3043G=
c.2738G= (p.Ser913=)
c.2804G= (p.Ser935=)
c.2756G= (p.Ser919=)
c.2621G= (p.Ser874=)
16g.28835673G>TCA395408320ATXN2Lc.2810G>T (p.Ser937Ile)
c.785G>T (p.Ser262Ile)
n.3184G>T
c.5G>T (p.Ser2Ile)
c.2828G>T (p.Ser943Ile)
c.1874G>T (n.1874G>T)
c.79G>T
c.788G>T (p.Ser263Ile)
c.330G>T
c.2831G>T (p.Ser944Ile)
c.2813G>T (p.Ser938Ile)
c.2651G>T (p.Ser884Ile)
c.2759G>T (p.Ser920Ile)
c.2741G>T (p.Ser914Ile)
c.2465G>T (p.Ser822Ile)
n.3040G>T
c.2633G>T (p.Ser878Ile)
c.2447G>T (p.Ser816Ile)
n.3043G>T
c.2738G>T (p.Ser913Ile)
c.2804G>T (p.Ser935Ile)
c.2756G>T (p.Ser919Ile)
c.2621G>T (p.Ser874Ile)
16g.28835674C>ACA395408321ATXN2Lc.2811C>A (p.Ser937Arg)
c.786C>A (p.Ser262Arg)
n.3185C>A
c.6C>A (p.Ser2Arg)
c.2829C>A (p.Ser943Arg)
c.1875C>A (n.1875C>A)
c.80C>A
c.789C>A (p.Ser263Arg)
c.331C>A
c.2832C>A (p.Ser944Arg)
c.2814C>A (p.Ser938Arg)
c.2652C>A (p.Ser884Arg)
c.2760C>A (p.Ser920Arg)
c.2742C>A (p.Ser914Arg)
c.2466C>A (p.Ser822Arg)
n.3041C>A
c.2634C>A (p.Ser878Arg)
c.2448C>A (p.Ser816Arg)
n.3044C>A
c.2739C>A (p.Ser913Arg)
c.2805C>A (p.Ser935Arg)
c.2757C>A (p.Ser919Arg)
c.2622C>A (p.Ser874Arg)
16g.28835674C>GCA395408322ATXN2Lc.2811C>G (p.Ser937Arg)
c.786C>G (p.Ser262Arg)
n.3185C>G
c.6C>G (p.Ser2Arg)
c.2829C>G (p.Ser943Arg)
c.1875C>G (n.1875C>G)
c.80C>G
c.789C>G (p.Ser263Arg)
c.331C>G
c.2832C>G (p.Ser944Arg)
c.2814C>G (p.Ser938Arg)
c.2652C>G (p.Ser884Arg)
c.2760C>G (p.Ser920Arg)
c.2742C>G (p.Ser914Arg)
c.2466C>G (p.Ser822Arg)
n.3041C>G
c.2634C>G (p.Ser878Arg)
c.2448C>G (p.Ser816Arg)
n.3044C>G
c.2739C>G (p.Ser913Arg)
c.2805C>G (p.Ser935Arg)
c.2757C>G (p.Ser919Arg)
c.2622C>G (p.Ser874Arg)
16g.28835674C>TCA494869064ATXN2Lc.2811C>T (p.Ser937=)
c.786C>T (p.Ser262=)
n.3185C>T
c.6C>T (p.Ser2=)
c.2829C>T (p.Ser943=)
c.1875C>T (n.1875C>T)
c.80C>T
c.789C>T (p.Ser263=)
c.331C>T
c.2832C>T (p.Ser944=)
c.2814C>T (p.Ser938=)
c.2652C>T (p.Ser884=)
c.2760C>T (p.Ser920=)
c.2742C>T (p.Ser914=)
c.2466C>T (p.Ser822=)
n.3041C>T
c.2634C>T (p.Ser878=)
c.2448C>T (p.Ser816=)
n.3044C>T
c.2739C>T (p.Ser913=)
c.2805C>T (p.Ser935=)
c.2757C>T (p.Ser919=)
c.2622C>T (p.Ser874=)
 gnomAD v4
16g.28835675A>CCA395408323ATXN2Lc.2812A>C (p.Ser938Arg)
c.787A>C (p.Ser263Arg)
n.3186A>C
c.7A>C (p.Ser3Arg)
c.2830A>C (p.Ser944Arg)
c.1876A>C (n.1876A>C)
c.81A>C
c.790A>C (p.Ser264Arg)
c.332A>C
c.2833A>C (p.Ser945Arg)
c.2815A>C (p.Ser939Arg)
c.2653A>C (p.Ser885Arg)
c.2761A>C (p.Ser921Arg)
c.2743A>C (p.Ser915Arg)
c.2467A>C (p.Ser823Arg)
n.3042A>C
c.2635A>C (p.Ser879Arg)
c.2449A>C (p.Ser817Arg)
n.3045A>C
c.2740A>C (p.Ser914Arg)
c.2806A>C (p.Ser936Arg)
c.2758A>C (p.Ser920Arg)
c.2623A>C (p.Ser875Arg)
16g.28835675A>GCA395408324ATXN2Lc.2812A>G (p.Ser938Gly)
c.787A>G (p.Ser263Gly)
n.3186A>G
c.7A>G (p.Ser3Gly)
c.2830A>G (p.Ser944Gly)
c.1876A>G (n.1876A>G)
c.81A>G
c.790A>G (p.Ser264Gly)
c.332A>G
c.2833A>G (p.Ser945Gly)
c.2815A>G (p.Ser939Gly)
c.2653A>G (p.Ser885Gly)
c.2761A>G (p.Ser921Gly)
c.2743A>G (p.Ser915Gly)
c.2467A>G (p.Ser823Gly)
n.3042A>G
c.2635A>G (p.Ser879Gly)
c.2449A>G (p.Ser817Gly)
n.3045A>G
c.2740A>G (p.Ser914Gly)
c.2806A>G (p.Ser936Gly)
c.2758A>G (p.Ser920Gly)
c.2623A>G (p.Ser875Gly)
16g.28835675A>TCA395408325ATXN2Lc.2812A>T (p.Ser938Cys)
c.787A>T (p.Ser263Cys)
n.3186A>T
c.7A>T (p.Ser3Cys)
c.2830A>T (p.Ser944Cys)
c.1876A>T (n.1876A>T)
c.81A>T
c.790A>T (p.Ser264Cys)
c.332A>T
c.2833A>T (p.Ser945Cys)
c.2815A>T (p.Ser939Cys)
c.2653A>T (p.Ser885Cys)
c.2761A>T (p.Ser921Cys)
c.2743A>T (p.Ser915Cys)
c.2467A>T (p.Ser823Cys)
n.3042A>T
c.2635A>T (p.Ser879Cys)
c.2449A>T (p.Ser817Cys)
n.3045A>T
c.2740A>T (p.Ser914Cys)
c.2806A>T (p.Ser936Cys)
c.2758A>T (p.Ser920Cys)
c.2623A>T (p.Ser875Cys)
16g.28835676G>ACA395408326ATXN2Lc.2813G>A (p.Ser938Asn)
c.788G>A (p.Ser263Asn)
n.3187G>A
c.8G>A (p.Ser3Asn)
c.2831G>A (p.Ser944Asn)
c.1877G>A (n.1877G>A)
c.82G>A
c.791G>A (p.Ser264Asn)
c.333G>A
c.2834G>A (p.Ser945Asn)
c.2816G>A (p.Ser939Asn)
c.2654G>A (p.Ser885Asn)
c.2762G>A (p.Ser921Asn)
c.2744G>A (p.Ser915Asn)
c.2468G>A (p.Ser823Asn)
n.3043G>A
c.2636G>A (p.Ser879Asn)
c.2450G>A (p.Ser817Asn)
n.3046G>A
c.2741G>A (p.Ser914Asn)
c.2807G>A (p.Ser936Asn)
c.2759G>A (p.Ser920Asn)
c.2624G>A (p.Ser875Asn)
 gnomAD v4
16g.28835676G>CCA395408327ATXN2Lc.2813G>C (p.Ser938Thr)
c.788G>C (p.Ser263Thr)
n.3187G>C
c.8G>C (p.Ser3Thr)
c.2831G>C (p.Ser944Thr)
c.1877G>C (n.1877G>C)
c.82G>C
c.791G>C (p.Ser264Thr)
c.333G>C
c.2834G>C (p.Ser945Thr)
c.2816G>C (p.Ser939Thr)
c.2654G>C (p.Ser885Thr)
c.2762G>C (p.Ser921Thr)
c.2744G>C (p.Ser915Thr)
c.2468G>C (p.Ser823Thr)
n.3043G>C
c.2636G>C (p.Ser879Thr)
c.2450G>C (p.Ser817Thr)
n.3046G>C
c.2741G>C (p.Ser914Thr)
c.2807G>C (p.Ser936Thr)
c.2759G>C (p.Ser920Thr)
c.2624G>C (p.Ser875Thr)
 dbSNP gnomAD v4
16g.28835676G=CA2215806417ATXN2Lc.2813G= (p.Ser938=)
c.788G= (p.Ser263=)
n.3187G=
c.8G= (p.Ser3=)
c.2831G= (p.Ser944=)
c.1877G= (n.1877G=)
c.82G=
c.791G= (p.Ser264=)
c.333G=
c.2834G= (p.Ser945=)
c.2816G= (p.Ser939=)
c.2654G= (p.Ser885=)
c.2762G= (p.Ser921=)
c.2744G= (p.Ser915=)
c.2468G= (p.Ser823=)
n.3043G=
c.2636G= (p.Ser879=)
c.2450G= (p.Ser817=)
n.3046G=
c.2741G= (p.Ser914=)
c.2807G= (p.Ser936=)
c.2759G= (p.Ser920=)
c.2624G= (p.Ser875=)
16g.28835676G>TCA395408328ATXN2Lc.2813G>T (p.Ser938Ile)
c.788G>T (p.Ser263Ile)
n.3187G>T
c.8G>T (p.Ser3Ile)
c.2831G>T (p.Ser944Ile)
c.1877G>T (n.1877G>T)
c.82G>T
c.791G>T (p.Ser264Ile)
c.333G>T
c.2834G>T (p.Ser945Ile)
c.2816G>T (p.Ser939Ile)
c.2654G>T (p.Ser885Ile)
c.2762G>T (p.Ser921Ile)
c.2744G>T (p.Ser915Ile)
c.2468G>T (p.Ser823Ile)
n.3043G>T
c.2636G>T (p.Ser879Ile)
c.2450G>T (p.Ser817Ile)
n.3046G>T
c.2741G>T (p.Ser914Ile)
c.2807G>T (p.Ser936Ile)
c.2759G>T (p.Ser920Ile)
c.2624G>T (p.Ser875Ile)
16g.28835677C>ACA395408329ATXN2Lc.2814C>A (p.Ser938Arg)
c.789C>A (p.Ser263Arg)
n.3188C>A
c.9C>A (p.Ser3Arg)
c.2832C>A (p.Ser944Arg)
c.1878C>A (n.1878C>A)
c.83C>A
c.792C>A (p.Ser264Arg)
c.334C>A
c.2835C>A (p.Ser945Arg)
c.2817C>A (p.Ser939Arg)
c.2655C>A (p.Ser885Arg)
c.2763C>A (p.Ser921Arg)
c.2745C>A (p.Ser915Arg)
c.2469C>A (p.Ser823Arg)
n.3044C>A
c.2637C>A (p.Ser879Arg)
c.2451C>A (p.Ser817Arg)
n.3047C>A
c.2742C>A (p.Ser914Arg)
c.2808C>A (p.Ser936Arg)
c.2760C>A (p.Ser920Arg)
c.2625C>A (p.Ser875Arg)
16g.28835677C>GCA395408330ATXN2Lc.2814C>G (p.Ser938Arg)
c.789C>G (p.Ser263Arg)
n.3188C>G
c.9C>G (p.Ser3Arg)
c.2832C>G (p.Ser944Arg)
c.1878C>G (n.1878C>G)
c.83C>G
c.792C>G (p.Ser264Arg)
c.334C>G
c.2835C>G (p.Ser945Arg)
c.2817C>G (p.Ser939Arg)
c.2655C>G (p.Ser885Arg)
c.2763C>G (p.Ser921Arg)
c.2745C>G (p.Ser915Arg)
c.2469C>G (p.Ser823Arg)
n.3044C>G
c.2637C>G (p.Ser879Arg)
c.2451C>G (p.Ser817Arg)
n.3047C>G
c.2742C>G (p.Ser914Arg)
c.2808C>G (p.Ser936Arg)
c.2760C>G (p.Ser920Arg)
c.2625C>G (p.Ser875Arg)
16g.28835677C>TCA494869085ATXN2Lc.2814C>T (p.Ser938=)
c.789C>T (p.Ser263=)
n.3188C>T
c.9C>T (p.Ser3=)
c.2832C>T (p.Ser944=)
c.1878C>T (n.1878C>T)
c.83C>T
c.792C>T (p.Ser264=)
c.334C>T
c.2835C>T (p.Ser945=)
c.2817C>T (p.Ser939=)
c.2655C>T (p.Ser885=)
c.2763C>T (p.Ser921=)
c.2745C>T (p.Ser915=)
c.2469C>T (p.Ser823=)
n.3044C>T
c.2637C>T (p.Ser879=)
c.2451C>T (p.Ser817=)
n.3047C>T
c.2742C>T (p.Ser914=)
c.2808C>T (p.Ser936=)
c.2760C>T (p.Ser920=)
c.2625C>T (p.Ser875=)
16g.28835678T>ACA395408331ATXN2Lc.2815T>A (p.Phe939Ile)
c.790T>A (p.Phe264Ile)
n.3189T>A
c.10T>A (p.Phe4Ile)
c.2833T>A (p.Phe945Ile)
c.1879T>A (n.1879T>A)
c.84T>A
c.793T>A (p.Phe265Ile)
c.335T>A
c.2836T>A (p.Phe946Ile)
c.2818T>A (p.Phe940Ile)
c.2656T>A (p.Phe886Ile)
c.2764T>A (p.Phe922Ile)
c.2746T>A (p.Phe916Ile)
c.2470T>A (p.Phe824Ile)
n.3045T>A
c.2638T>A (p.Phe880Ile)
c.2452T>A (p.Phe818Ile)
n.3048T>A
c.2743T>A (p.Phe915Ile)
c.2809T>A (p.Phe937Ile)
c.2761T>A (p.Phe921Ile)
c.2626T>A (p.Phe876Ile)
16g.28835678T>CCA395408333ATXN2Lc.2815T>C (p.Phe939Leu)
c.790T>C (p.Phe264Leu)
n.3189T>C
c.10T>C (p.Phe4Leu)
c.2833T>C (p.Phe945Leu)
c.1879T>C (n.1879T>C)
c.84T>C
c.793T>C (p.Phe265Leu)
c.335T>C
c.2836T>C (p.Phe946Leu)
c.2818T>C (p.Phe940Leu)
c.2656T>C (p.Phe886Leu)
c.2764T>C (p.Phe922Leu)
c.2746T>C (p.Phe916Leu)
c.2470T>C (p.Phe824Leu)
n.3045T>C
c.2638T>C (p.Phe880Leu)
c.2452T>C (p.Phe818Leu)
n.3048T>C
c.2743T>C (p.Phe915Leu)
c.2809T>C (p.Phe937Leu)
c.2761T>C (p.Phe921Leu)
c.2626T>C (p.Phe876Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835678T>GCA395408335ATXN2Lc.2815T>G (p.Phe939Val)
c.790T>G (p.Phe264Val)
n.3189T>G
c.10T>G (p.Phe4Val)
c.2833T>G (p.Phe945Val)
c.1879T>G (n.1879T>G)
c.84T>G
c.793T>G (p.Phe265Val)
c.335T>G
c.2836T>G (p.Phe946Val)
c.2818T>G (p.Phe940Val)
c.2656T>G (p.Phe886Val)
c.2764T>G (p.Phe922Val)
c.2746T>G (p.Phe916Val)
c.2470T>G (p.Phe824Val)
n.3045T>G
c.2638T>G (p.Phe880Val)
c.2452T>G (p.Phe818Val)
n.3048T>G
c.2743T>G (p.Phe915Val)
c.2809T>G (p.Phe937Val)
c.2761T>G (p.Phe921Val)
c.2626T>G (p.Phe876Val)
16g.28835678T=CA2215806422ATXN2Lc.2815T= (p.Phe939=)
c.790T= (p.Phe264=)
n.3189T=
c.10T= (p.Phe4=)
c.2833T= (p.Phe945=)
c.1879T= (n.1879T=)
c.84T=
c.793T= (p.Phe265=)
c.335T=
c.2836T= (p.Phe946=)
c.2818T= (p.Phe940=)
c.2656T= (p.Phe886=)
c.2764T= (p.Phe922=)
c.2746T= (p.Phe916=)
c.2470T= (p.Phe824=)
n.3045T=
c.2638T= (p.Phe880=)
c.2452T= (p.Phe818=)
n.3048T=
c.2743T= (p.Phe915=)
c.2809T= (p.Phe937=)
c.2761T= (p.Phe921=)
c.2626T= (p.Phe876=)
16g.28835679T>ACA395408337ATXN2Lc.2816T>A (p.Phe939Tyr)
c.791T>A (p.Phe264Tyr)
n.3190T>A
c.11T>A (p.Phe4Tyr)
c.2834T>A (p.Phe945Tyr)
c.1880T>A (n.1880T>A)
c.85T>A
c.794T>A (p.Phe265Tyr)
c.336T>A
c.2837T>A (p.Phe946Tyr)
c.2819T>A (p.Phe940Tyr)
c.2657T>A (p.Phe886Tyr)
c.2765T>A (p.Phe922Tyr)
c.2747T>A (p.Phe916Tyr)
c.2471T>A (p.Phe824Tyr)
n.3046T>A
c.2639T>A (p.Phe880Tyr)
c.2453T>A (p.Phe818Tyr)
n.3049T>A
c.2744T>A (p.Phe915Tyr)
c.2810T>A (p.Phe937Tyr)
c.2762T>A (p.Phe921Tyr)
c.2627T>A (p.Phe876Tyr)
16g.28835679T>CCA395408339ATXN2Lc.2816T>C (p.Phe939Ser)
c.791T>C (p.Phe264Ser)
n.3190T>C
c.11T>C (p.Phe4Ser)
c.2834T>C (p.Phe945Ser)
c.1880T>C (n.1880T>C)
c.85T>C
c.794T>C (p.Phe265Ser)
c.336T>C
c.2837T>C (p.Phe946Ser)
c.2819T>C (p.Phe940Ser)
c.2657T>C (p.Phe886Ser)
c.2765T>C (p.Phe922Ser)
c.2747T>C (p.Phe916Ser)
c.2471T>C (p.Phe824Ser)
n.3046T>C
c.2639T>C (p.Phe880Ser)
c.2453T>C (p.Phe818Ser)
n.3049T>C
c.2744T>C (p.Phe915Ser)
c.2810T>C (p.Phe937Ser)
c.2762T>C (p.Phe921Ser)
c.2627T>C (p.Phe876Ser)
16g.28835679T>GCA395408341ATXN2Lc.2816T>G (p.Phe939Cys)
c.791T>G (p.Phe264Cys)
n.3190T>G
c.11T>G (p.Phe4Cys)
c.2834T>G (p.Phe945Cys)
c.1880T>G (n.1880T>G)
c.85T>G
c.794T>G (p.Phe265Cys)
c.336T>G
c.2837T>G (p.Phe946Cys)
c.2819T>G (p.Phe940Cys)
c.2657T>G (p.Phe886Cys)
c.2765T>G (p.Phe922Cys)
c.2747T>G (p.Phe916Cys)
c.2471T>G (p.Phe824Cys)
n.3046T>G
c.2639T>G (p.Phe880Cys)
c.2453T>G (p.Phe818Cys)
n.3049T>G
c.2744T>G (p.Phe915Cys)
c.2810T>G (p.Phe937Cys)
c.2762T>G (p.Phe921Cys)
c.2627T>G (p.Phe876Cys)
16g.28835680C>ACA395408344ATXN2Lc.2817C>A (p.Phe939Leu)
c.792C>A (p.Phe264Leu)
n.3191C>A
c.12C>A (p.Phe4Leu)
c.2835C>A (p.Phe945Leu)
c.1881C>A (n.1881C>A)
c.86C>A
c.795C>A (p.Phe265Leu)
c.337C>A
c.2838C>A (p.Phe946Leu)
c.2820C>A (p.Phe940Leu)
c.2658C>A (p.Phe886Leu)
c.2766C>A (p.Phe922Leu)
c.2748C>A (p.Phe916Leu)
c.2472C>A (p.Phe824Leu)
n.3047C>A
c.2640C>A (p.Phe880Leu)
c.2454C>A (p.Phe818Leu)
n.3050C>A
c.2745C>A (p.Phe915Leu)
c.2811C>A (p.Phe937Leu)
c.2763C>A (p.Phe921Leu)
c.2628C>A (p.Phe876Leu)
16g.28835680C>GCA395408346ATXN2Lc.2817C>G (p.Phe939Leu)
c.792C>G (p.Phe264Leu)
n.3191C>G
c.12C>G (p.Phe4Leu)
c.2835C>G (p.Phe945Leu)
c.1881C>G (n.1881C>G)
c.86C>G
c.795C>G (p.Phe265Leu)
c.337C>G
c.2838C>G (p.Phe946Leu)
c.2820C>G (p.Phe940Leu)
c.2658C>G (p.Phe886Leu)
c.2766C>G (p.Phe922Leu)
c.2748C>G (p.Phe916Leu)
c.2472C>G (p.Phe824Leu)
n.3047C>G
c.2640C>G (p.Phe880Leu)
c.2454C>G (p.Phe818Leu)
n.3050C>G
c.2745C>G (p.Phe915Leu)
c.2811C>G (p.Phe937Leu)
c.2763C>G (p.Phe921Leu)
c.2628C>G (p.Phe876Leu)
16g.28835680C>TCA494869108ATXN2Lc.2817C>T (p.Phe939=)
c.792C>T (p.Phe264=)
n.3191C>T
c.12C>T (p.Phe4=)
c.2835C>T (p.Phe945=)
c.1881C>T (n.1881C>T)
c.86C>T
c.795C>T (p.Phe265=)
c.337C>T
c.2838C>T (p.Phe946=)
c.2820C>T (p.Phe940=)
c.2658C>T (p.Phe886=)
c.2766C>T (p.Phe922=)
c.2748C>T (p.Phe916=)
c.2472C>T (p.Phe824=)
n.3047C>T
c.2640C>T (p.Phe880=)
c.2454C>T (p.Phe818=)
n.3050C>T
c.2745C>T (p.Phe915=)
c.2811C>T (p.Phe937=)
c.2763C>T (p.Phe921=)
c.2628C>T (p.Phe876=)
16g.28835681C>ACA395408349ATXN2Lc.2818C>A (p.Pro940Thr)
c.793C>A (p.Pro265Thr)
n.3192C>A
c.13C>A (p.Pro5Thr)
c.2836C>A (p.Pro946Thr)
c.1882C>A (n.1882C>A)
c.87C>A
c.796C>A (p.Pro266Thr)
c.338C>A
c.2839C>A (p.Pro947Thr)
c.2821C>A (p.Pro941Thr)
c.2659C>A (p.Pro887Thr)
c.2767C>A (p.Pro923Thr)
c.2749C>A (p.Pro917Thr)
c.2473C>A (p.Pro825Thr)
n.3048C>A
c.2641C>A (p.Pro881Thr)
c.2455C>A (p.Pro819Thr)
n.3051C>A
c.2746C>A (p.Pro916Thr)
c.2812C>A (p.Pro938Thr)
c.2764C>A (p.Pro922Thr)
c.2629C>A (p.Pro877Thr)
16g.28835681C>GCA395408352ATXN2Lc.2818C>G (p.Pro940Ala)
c.793C>G (p.Pro265Ala)
n.3192C>G
c.13C>G (p.Pro5Ala)
c.2836C>G (p.Pro946Ala)
c.1882C>G (n.1882C>G)
c.87C>G
c.796C>G (p.Pro266Ala)
c.338C>G
c.2839C>G (p.Pro947Ala)
c.2821C>G (p.Pro941Ala)
c.2659C>G (p.Pro887Ala)
c.2767C>G (p.Pro923Ala)
c.2749C>G (p.Pro917Ala)
c.2473C>G (p.Pro825Ala)
n.3048C>G
c.2641C>G (p.Pro881Ala)
c.2455C>G (p.Pro819Ala)
n.3051C>G
c.2746C>G (p.Pro916Ala)
c.2812C>G (p.Pro938Ala)
c.2764C>G (p.Pro922Ala)
c.2629C>G (p.Pro877Ala)
16g.28835681C>TCA395408354ATXN2Lc.2818C>T (p.Pro940Ser)
c.793C>T (p.Pro265Ser)
n.3192C>T
c.13C>T (p.Pro5Ser)
c.2836C>T (p.Pro946Ser)
c.1882C>T (n.1882C>T)
c.87C>T
c.796C>T (p.Pro266Ser)
c.338C>T
c.2839C>T (p.Pro947Ser)
c.2821C>T (p.Pro941Ser)
c.2659C>T (p.Pro887Ser)
c.2767C>T (p.Pro923Ser)
c.2749C>T (p.Pro917Ser)
c.2473C>T (p.Pro825Ser)
n.3048C>T
c.2641C>T (p.Pro881Ser)
c.2455C>T (p.Pro819Ser)
n.3051C>T
c.2746C>T (p.Pro916Ser)
c.2812C>T (p.Pro938Ser)
c.2764C>T (p.Pro922Ser)
c.2629C>T (p.Pro877Ser)
16g.28835682C>ACA395408357ATXN2Lc.2819C>A (p.Pro940His)
c.794C>A (p.Pro265His)
n.3193C>A
c.14C>A (p.Pro5His)
c.2837C>A (p.Pro946His)
c.1883C>A (n.1883C>A)
c.88C>A
c.797C>A (p.Pro266His)
c.339C>A
c.2840C>A (p.Pro947His)
c.2822C>A (p.Pro941His)
c.2660C>A (p.Pro887His)
c.2768C>A (p.Pro923His)
c.2750C>A (p.Pro917His)
c.2474C>A (p.Pro825His)
n.3049C>A
c.2642C>A (p.Pro881His)
c.2456C>A (p.Pro819His)
n.3052C>A
c.2747C>A (p.Pro916His)
c.2813C>A (p.Pro938His)
c.2765C>A (p.Pro922His)
c.2630C>A (p.Pro877His)
16g.28835682C>GCA395408359ATXN2Lc.2819C>G (p.Pro940Arg)
c.794C>G (p.Pro265Arg)
n.3193C>G
c.14C>G (p.Pro5Arg)
c.2837C>G (p.Pro946Arg)
c.1883C>G (n.1883C>G)
c.88C>G
c.797C>G (p.Pro266Arg)
c.339C>G
c.2840C>G (p.Pro947Arg)
c.2822C>G (p.Pro941Arg)
c.2660C>G (p.Pro887Arg)
c.2768C>G (p.Pro923Arg)
c.2750C>G (p.Pro917Arg)
c.2474C>G (p.Pro825Arg)
n.3049C>G
c.2642C>G (p.Pro881Arg)
c.2456C>G (p.Pro819Arg)
n.3052C>G
c.2747C>G (p.Pro916Arg)
c.2813C>G (p.Pro938Arg)
c.2765C>G (p.Pro922Arg)
c.2630C>G (p.Pro877Arg)
16g.28835682C>TCA395408361ATXN2Lc.2819C>T (p.Pro940Leu)
c.794C>T (p.Pro265Leu)
n.3193C>T
c.14C>T (p.Pro5Leu)
c.2837C>T (p.Pro946Leu)
c.1883C>T (n.1883C>T)
c.88C>T
c.797C>T (p.Pro266Leu)
c.339C>T
c.2840C>T (p.Pro947Leu)
c.2822C>T (p.Pro941Leu)
c.2660C>T (p.Pro887Leu)
c.2768C>T (p.Pro923Leu)
c.2750C>T (p.Pro917Leu)
c.2474C>T (p.Pro825Leu)
n.3049C>T
c.2642C>T (p.Pro881Leu)
c.2456C>T (p.Pro819Leu)
n.3052C>T
c.2747C>T (p.Pro916Leu)
c.2813C>T (p.Pro938Leu)
c.2765C>T (p.Pro922Leu)
c.2630C>T (p.Pro877Leu)
16g.28835683C>ACA494869129ATXN2Lc.2820C>A (p.Pro940=)
c.795C>A (p.Pro265=)
n.3194C>A
c.15C>A (p.Pro5=)
c.2838C>A (p.Pro946=)
c.1884C>A (n.1884C>A)
c.89C>A
c.798C>A (p.Pro266=)
c.340C>A
c.2841C>A (p.Pro947=)
c.2823C>A (p.Pro941=)
c.2661C>A (p.Pro887=)
c.2769C>A (p.Pro923=)
c.2751C>A (p.Pro917=)
c.2475C>A (p.Pro825=)
n.3050C>A
c.2643C>A (p.Pro881=)
c.2457C>A (p.Pro819=)
n.3053C>A
c.2748C>A (p.Pro916=)
c.2814C>A (p.Pro938=)
c.2766C>A (p.Pro922=)
c.2631C>A (p.Pro877=)
 gnomAD v4
16g.28835683C=CA2215806424ATXN2Lc.2820C= (p.Pro940=)
c.795C= (p.Pro265=)
n.3194C=
c.15C= (p.Pro5=)
c.2838C= (p.Pro946=)
c.1884C= (n.1884C=)
c.89C=
c.798C= (p.Pro266=)
c.340C=
c.2841C= (p.Pro947=)
c.2823C= (p.Pro941=)
c.2661C= (p.Pro887=)
c.2769C= (p.Pro923=)
c.2751C= (p.Pro917=)
c.2475C= (p.Pro825=)
n.3050C=
c.2643C= (p.Pro881=)
c.2457C= (p.Pro819=)
n.3053C=
c.2748C= (p.Pro916=)
c.2814C= (p.Pro938=)
c.2766C= (p.Pro922=)
c.2631C= (p.Pro877=)
16g.28835683C>GCA7985097ATXN2Lc.2820C>G (p.Pro940=)
c.795C>G (p.Pro265=)
n.3194C>G
c.15C>G (p.Pro5=)
c.2838C>G (p.Pro946=)
c.1884C>G (n.1884C>G)
c.89C>G
c.798C>G (p.Pro266=)
c.340C>G
c.2841C>G (p.Pro947=)
c.2823C>G (p.Pro941=)
c.2661C>G (p.Pro887=)
c.2769C>G (p.Pro923=)
c.2751C>G (p.Pro917=)
c.2475C>G (p.Pro825=)
n.3050C>G
c.2643C>G (p.Pro881=)
c.2457C>G (p.Pro819=)
n.3053C>G
c.2748C>G (p.Pro916=)
c.2814C>G (p.Pro938=)
c.2766C>G (p.Pro922=)
c.2631C>G (p.Pro877=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835683C>TCA7985098ATXN2Lc.2820C>T (p.Pro940=)
c.795C>T (p.Pro265=)
n.3194C>T
c.15C>T (p.Pro5=)
c.2838C>T (p.Pro946=)
c.1884C>T (n.1884C>T)
c.89C>T
c.798C>T (p.Pro266=)
c.340C>T
c.2841C>T (p.Pro947=)
c.2823C>T (p.Pro941=)
c.2661C>T (p.Pro887=)
c.2769C>T (p.Pro923=)
c.2751C>T (p.Pro917=)
c.2475C>T (p.Pro825=)
n.3050C>T
c.2643C>T (p.Pro881=)
c.2457C>T (p.Pro819=)
n.3053C>T
c.2748C>T (p.Pro916=)
c.2814C>T (p.Pro938=)
c.2766C>T (p.Pro922=)
c.2631C>T (p.Pro877=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835684C>ACA395408363ATXN2Lc.2821C>A (p.Gln941Lys)
c.796C>A (p.Gln266Lys)
n.3195C>A
c.16C>A (p.Gln6Lys)
c.2839C>A (p.Gln947Lys)
c.1885C>A (n.1885C>A)
c.90C>A
c.799C>A (p.Gln267Lys)
c.341C>A
c.2842C>A (p.Gln948Lys)
c.2824C>A (p.Gln942Lys)
c.2662C>A (p.Gln888Lys)
c.2770C>A (p.Gln924Lys)
c.2752C>A (p.Gln918Lys)
c.2476C>A (p.Gln826Lys)
n.3051C>A
c.2644C>A (p.Gln882Lys)
c.2458C>A (p.Gln820Lys)
n.3054C>A
c.2749C>A (p.Gln917Lys)
c.2815C>A (p.Gln939Lys)
c.2767C>A (p.Gln923Lys)
c.2632C>A (p.Gln878Lys)
16g.28835684C>GCA395408365ATXN2Lc.2821C>G (p.Gln941Glu)
c.796C>G (p.Gln266Glu)
n.3195C>G
c.16C>G (p.Gln6Glu)
c.2839C>G (p.Gln947Glu)
c.1885C>G (n.1885C>G)
c.90C>G
c.799C>G (p.Gln267Glu)
c.341C>G
c.2842C>G (p.Gln948Glu)
c.2824C>G (p.Gln942Glu)
c.2662C>G (p.Gln888Glu)
c.2770C>G (p.Gln924Glu)
c.2752C>G (p.Gln918Glu)
c.2476C>G (p.Gln826Glu)
n.3051C>G
c.2644C>G (p.Gln882Glu)
c.2458C>G (p.Gln820Glu)
n.3054C>G
c.2749C>G (p.Gln917Glu)
c.2815C>G (p.Gln939Glu)
c.2767C>G (p.Gln923Glu)
c.2632C>G (p.Gln878Glu)
16g.28835684C>TCA395408367ATXN2Lc.2821C>T (p.Gln941Ter)
c.796C>T (p.Gln266Ter)
n.3195C>T
c.16C>T (p.Gln6Ter)
c.2839C>T (p.Gln947Ter)
c.1885C>T (n.1885C>T)
c.90C>T
c.799C>T (p.Gln267Ter)
c.341C>T
c.2842C>T (p.Gln948Ter)
c.2824C>T (p.Gln942Ter)
c.2662C>T (p.Gln888Ter)
c.2770C>T (p.Gln924Ter)
c.2752C>T (p.Gln918Ter)
c.2476C>T (p.Gln826Ter)
n.3051C>T
c.2644C>T (p.Gln882Ter)
c.2458C>T (p.Gln820Ter)
n.3054C>T
c.2749C>T (p.Gln917Ter)
c.2815C>T (p.Gln939Ter)
c.2767C>T (p.Gln923Ter)
c.2632C>T (p.Gln878Ter)
16g.28835685A>CCA395408369ATXN2Lc.2822A>C (p.Gln941Pro)
c.797A>C (p.Gln266Pro)
n.3196A>C
c.17A>C (p.Gln6Pro)
c.2840A>C (p.Gln947Pro)
c.1886A>C (n.1886A>C)
c.91A>C
c.800A>C (p.Gln267Pro)
c.342A>C
c.2843A>C (p.Gln948Pro)
c.2825A>C (p.Gln942Pro)
c.2663A>C (p.Gln888Pro)
c.2771A>C (p.Gln924Pro)
c.2753A>C (p.Gln918Pro)
c.2477A>C (p.Gln826Pro)
n.3052A>C
c.2645A>C (p.Gln882Pro)
c.2459A>C (p.Gln820Pro)
n.3055A>C
c.2750A>C (p.Gln917Pro)
c.2816A>C (p.Gln939Pro)
c.2768A>C (p.Gln923Pro)
c.2633A>C (p.Gln878Pro)
16g.28835685A>GCA395408371ATXN2Lc.2822A>G (p.Gln941Arg)
c.797A>G (p.Gln266Arg)
n.3196A>G
c.17A>G (p.Gln6Arg)
c.2840A>G (p.Gln947Arg)
c.1886A>G (n.1886A>G)
c.91A>G
c.800A>G (p.Gln267Arg)
c.342A>G
c.2843A>G (p.Gln948Arg)
c.2825A>G (p.Gln942Arg)
c.2663A>G (p.Gln888Arg)
c.2771A>G (p.Gln924Arg)
c.2753A>G (p.Gln918Arg)
c.2477A>G (p.Gln826Arg)
n.3052A>G
c.2645A>G (p.Gln882Arg)
c.2459A>G (p.Gln820Arg)
n.3055A>G
c.2750A>G (p.Gln917Arg)
c.2816A>G (p.Gln939Arg)
c.2768A>G (p.Gln923Arg)
c.2633A>G (p.Gln878Arg)
16g.28835685A>TCA395408373ATXN2Lc.2822A>T (p.Gln941Leu)
c.797A>T (p.Gln266Leu)
n.3196A>T
c.17A>T (p.Gln6Leu)
c.2840A>T (p.Gln947Leu)
c.1886A>T (n.1886A>T)
c.91A>T
c.800A>T (p.Gln267Leu)
c.342A>T
c.2843A>T (p.Gln948Leu)
c.2825A>T (p.Gln942Leu)
c.2663A>T (p.Gln888Leu)
c.2771A>T (p.Gln924Leu)
c.2753A>T (p.Gln918Leu)
c.2477A>T (p.Gln826Leu)
n.3052A>T
c.2645A>T (p.Gln882Leu)
c.2459A>T (p.Gln820Leu)
n.3055A>T
c.2750A>T (p.Gln917Leu)
c.2816A>T (p.Gln939Leu)
c.2768A>T (p.Gln923Leu)
c.2633A>T (p.Gln878Leu)
16g.28835686G>ACA494869141ATXN2Lc.2823G>A (p.Gln941=)
c.798G>A (p.Gln266=)
n.3197G>A
c.18G>A (p.Gln6=)
c.2841G>A (p.Gln947=)
c.1887G>A (n.1887G>A)
c.92G>A
c.801G>A (p.Gln267=)
c.343G>A
c.2844G>A (p.Gln948=)
c.2826G>A (p.Gln942=)
c.2664G>A (p.Gln888=)
c.2772G>A (p.Gln924=)
c.2754G>A (p.Gln918=)
c.2478G>A (p.Gln826=)
n.3053G>A
c.2646G>A (p.Gln882=)
c.2460G>A (p.Gln820=)
n.3056G>A
c.2751G>A (p.Gln917=)
c.2817G>A (p.Gln939=)
c.2769G>A (p.Gln923=)
c.2634G>A (p.Gln878=)
 gnomAD v4
16g.28835686G>CCA395408377ATXN2Lc.2823G>C (p.Gln941His)
c.798G>C (p.Gln266His)
n.3197G>C
c.18G>C (p.Gln6His)
c.2841G>C (p.Gln947His)
c.1887G>C (n.1887G>C)
c.92G>C
c.801G>C (p.Gln267His)
c.343G>C
c.2844G>C (p.Gln948His)
c.2826G>C (p.Gln942His)
c.2664G>C (p.Gln888His)
c.2772G>C (p.Gln924His)
c.2754G>C (p.Gln918His)
c.2478G>C (p.Gln826His)
n.3053G>C
c.2646G>C (p.Gln882His)
c.2460G>C (p.Gln820His)
n.3056G>C
c.2751G>C (p.Gln917His)
c.2817G>C (p.Gln939His)
c.2769G>C (p.Gln923His)
c.2634G>C (p.Gln878His)
16g.28835686G>TCA395408375ATXN2Lc.2823G>T (p.Gln941His)
c.798G>T (p.Gln266His)
n.3197G>T
c.18G>T (p.Gln6His)
c.2841G>T (p.Gln947His)
c.1887G>T (n.1887G>T)
c.92G>T
c.801G>T (p.Gln267His)
c.343G>T
c.2844G>T (p.Gln948His)
c.2826G>T (p.Gln942His)
c.2664G>T (p.Gln888His)
c.2772G>T (p.Gln924His)
c.2754G>T (p.Gln918His)
c.2478G>T (p.Gln826His)
n.3053G>T
c.2646G>T (p.Gln882His)
c.2460G>T (p.Gln820His)
n.3056G>T
c.2751G>T (p.Gln917His)
c.2817G>T (p.Gln939His)
c.2769G>T (p.Gln923His)
c.2634G>T (p.Gln878His)
16g.28835687C>ACA395408379ATXN2Lc.2824C>A (p.Pro942Thr)
c.799C>A (p.Pro267Thr)
n.3198C>A
c.19C>A (p.Pro7Thr)
c.2842C>A (p.Pro948Thr)
c.1888C>A (n.1888C>A)
c.93C>A
c.802C>A (p.Pro268Thr)
c.344C>A
c.2845C>A (p.Pro949Thr)
c.2827C>A (p.Pro943Thr)
c.2665C>A (p.Pro889Thr)
c.2773C>A (p.Pro925Thr)
c.2755C>A (p.Pro919Thr)
c.2479C>A (p.Pro827Thr)
n.3054C>A
c.2647C>A (p.Pro883Thr)
c.2461C>A (p.Pro821Thr)
n.3057C>A
c.2752C>A (p.Pro918Thr)
c.2818C>A (p.Pro940Thr)
c.2770C>A (p.Pro924Thr)
c.2635C>A (p.Pro879Thr)
16g.28835687C>GCA395408381ATXN2Lc.2824C>G (p.Pro942Ala)
c.799C>G (p.Pro267Ala)
n.3198C>G
c.19C>G (p.Pro7Ala)
c.2842C>G (p.Pro948Ala)
c.1888C>G (n.1888C>G)
c.93C>G
c.802C>G (p.Pro268Ala)
c.344C>G
c.2845C>G (p.Pro949Ala)
c.2827C>G (p.Pro943Ala)
c.2665C>G (p.Pro889Ala)
c.2773C>G (p.Pro925Ala)
c.2755C>G (p.Pro919Ala)
c.2479C>G (p.Pro827Ala)
n.3054C>G
c.2647C>G (p.Pro883Ala)
c.2461C>G (p.Pro821Ala)
n.3057C>G
c.2752C>G (p.Pro918Ala)
c.2818C>G (p.Pro940Ala)
c.2770C>G (p.Pro924Ala)
c.2635C>G (p.Pro879Ala)
16g.28835687C>TCA395408382ATXN2Lc.2824C>T (p.Pro942Ser)
c.799C>T (p.Pro267Ser)
n.3198C>T
c.19C>T (p.Pro7Ser)
c.2842C>T (p.Pro948Ser)
c.1888C>T (n.1888C>T)
c.93C>T
c.802C>T (p.Pro268Ser)
c.344C>T
c.2845C>T (p.Pro949Ser)
c.2827C>T (p.Pro943Ser)
c.2665C>T (p.Pro889Ser)
c.2773C>T (p.Pro925Ser)
c.2755C>T (p.Pro919Ser)
c.2479C>T (p.Pro827Ser)
n.3054C>T
c.2647C>T (p.Pro883Ser)
c.2461C>T (p.Pro821Ser)
n.3057C>T
c.2752C>T (p.Pro918Ser)
c.2818C>T (p.Pro940Ser)
c.2770C>T (p.Pro924Ser)
c.2635C>T (p.Pro879Ser)
16g.28835688C>ACA395408386ATXN2Lc.2825C>A (p.Pro942Gln)
c.800C>A (p.Pro267Gln)
n.3199C>A
c.20C>A (p.Pro7Gln)
c.2843C>A (p.Pro948Gln)
c.1889C>A (n.1889C>A)
c.94C>A
c.803C>A (p.Pro268Gln)
c.345C>A
c.2846C>A (p.Pro949Gln)
c.2828C>A (p.Pro943Gln)
c.2666C>A (p.Pro889Gln)
c.2774C>A (p.Pro925Gln)
c.2756C>A (p.Pro919Gln)
c.2480C>A (p.Pro827Gln)
n.3055C>A
c.2648C>A (p.Pro883Gln)
c.2462C>A (p.Pro821Gln)
n.3058C>A
c.2753C>A (p.Pro918Gln)
c.2819C>A (p.Pro940Gln)
c.2771C>A (p.Pro924Gln)
c.2636C>A (p.Pro879Gln)
16g.28835688C>GCA395408387ATXN2Lc.2825C>G (p.Pro942Arg)
c.800C>G (p.Pro267Arg)
n.3199C>G
c.20C>G (p.Pro7Arg)
c.2843C>G (p.Pro948Arg)
c.1889C>G (n.1889C>G)
c.94C>G
c.803C>G (p.Pro268Arg)
c.345C>G
c.2846C>G (p.Pro949Arg)
c.2828C>G (p.Pro943Arg)
c.2666C>G (p.Pro889Arg)
c.2774C>G (p.Pro925Arg)
c.2756C>G (p.Pro919Arg)
c.2480C>G (p.Pro827Arg)
n.3055C>G
c.2648C>G (p.Pro883Arg)
c.2462C>G (p.Pro821Arg)
n.3058C>G
c.2753C>G (p.Pro918Arg)
c.2819C>G (p.Pro940Arg)
c.2771C>G (p.Pro924Arg)
c.2636C>G (p.Pro879Arg)
16g.28835688C>TCA395408388ATXN2Lc.2825C>T (p.Pro942Leu)
c.800C>T (p.Pro267Leu)
n.3199C>T
c.20C>T (p.Pro7Leu)
c.2843C>T (p.Pro948Leu)
c.1889C>T (n.1889C>T)
c.94C>T
c.803C>T (p.Pro268Leu)
c.345C>T
c.2846C>T (p.Pro949Leu)
c.2828C>T (p.Pro943Leu)
c.2666C>T (p.Pro889Leu)
c.2774C>T (p.Pro925Leu)
c.2756C>T (p.Pro919Leu)
c.2480C>T (p.Pro827Leu)
n.3055C>T
c.2648C>T (p.Pro883Leu)
c.2462C>T (p.Pro821Leu)
n.3058C>T
c.2753C>T (p.Pro918Leu)
c.2819C>T (p.Pro940Leu)
c.2771C>T (p.Pro924Leu)
c.2636C>T (p.Pro879Leu)
16g.28835689A>CCA494869166ATXN2Lc.2826A>C (p.Pro942=)
c.801A>C (p.Pro267=)
n.3200A>C
c.21A>C (p.Pro7=)
c.2844A>C (p.Pro948=)
c.1890A>C (n.1890A>C)
c.95A>C
c.804A>C (p.Pro268=)
c.346A>C
c.2847A>C (p.Pro949=)
c.2829A>C (p.Pro943=)
c.2667A>C (p.Pro889=)
c.2775A>C (p.Pro925=)
c.2757A>C (p.Pro919=)
c.2481A>C (p.Pro827=)
n.3056A>C
c.2649A>C (p.Pro883=)
c.2463A>C (p.Pro821=)
n.3059A>C
c.2754A>C (p.Pro918=)
c.2820A>C (p.Pro940=)
c.2772A>C (p.Pro924=)
c.2637A>C (p.Pro879=)
16g.28835689A>GCA494869170ATXN2Lc.2826A>G (p.Pro942=)
c.801A>G (p.Pro267=)
n.3200A>G
c.21A>G (p.Pro7=)
c.2844A>G (p.Pro948=)
c.1890A>G (n.1890A>G)
c.95A>G
c.804A>G (p.Pro268=)
c.346A>G
c.2847A>G (p.Pro949=)
c.2829A>G (p.Pro943=)
c.2667A>G (p.Pro889=)
c.2775A>G (p.Pro925=)
c.2757A>G (p.Pro919=)
c.2481A>G (p.Pro827=)
n.3056A>G
c.2649A>G (p.Pro883=)
c.2463A>G (p.Pro821=)
n.3059A>G
c.2754A>G (p.Pro918=)
c.2820A>G (p.Pro940=)
c.2772A>G (p.Pro924=)
c.2637A>G (p.Pro879=)
16g.28835689A>TCA494869171ATXN2Lc.2826A>T (p.Pro942=)
c.801A>T (p.Pro267=)
n.3200A>T
c.21A>T (p.Pro7=)
c.2844A>T (p.Pro948=)
c.1890A>T (n.1890A>T)
c.95A>T
c.804A>T (p.Pro268=)
c.346A>T
c.2847A>T (p.Pro949=)
c.2829A>T (p.Pro943=)
c.2667A>T (p.Pro889=)
c.2775A>T (p.Pro925=)
c.2757A>T (p.Pro919=)
c.2481A>T (p.Pro827=)
n.3056A>T
c.2649A>T (p.Pro883=)
c.2463A>T (p.Pro821=)
n.3059A>T
c.2754A>T (p.Pro918=)
c.2820A>T (p.Pro940=)
c.2772A>T (p.Pro924=)
c.2637A>T (p.Pro879=)
16g.28835690G>ACA395408391ATXN2Lc.2827G>A (p.Ala943Thr)
c.802G>A (p.Ala268Thr)
n.3201G>A
c.22G>A (p.Ala8Thr)
c.2845G>A (p.Ala949Thr)
c.1891G>A (n.1891G>A)
c.96G>A
c.805G>A (p.Ala269Thr)
c.347G>A
c.2848G>A (p.Ala950Thr)
c.2830G>A (p.Ala944Thr)
c.2668G>A (p.Ala890Thr)
c.2776G>A (p.Ala926Thr)
c.2758G>A (p.Ala920Thr)
c.2482G>A (p.Ala828Thr)
n.3057G>A
c.2650G>A (p.Ala884Thr)
c.2464G>A (p.Ala822Thr)
n.3060G>A
c.2755G>A (p.Ala919Thr)
c.2821G>A (p.Ala941Thr)
c.2773G>A (p.Ala925Thr)
c.2638G>A (p.Ala880Thr)
16g.28835690G>CCA395408395ATXN2Lc.2827G>C (p.Ala943Pro)
c.802G>C (p.Ala268Pro)
n.3201G>C
c.22G>C (p.Ala8Pro)
c.2845G>C (p.Ala949Pro)
c.1891G>C (n.1891G>C)
c.96G>C
c.805G>C (p.Ala269Pro)
c.347G>C
c.2848G>C (p.Ala950Pro)
c.2830G>C (p.Ala944Pro)
c.2668G>C (p.Ala890Pro)
c.2776G>C (p.Ala926Pro)
c.2758G>C (p.Ala920Pro)
c.2482G>C (p.Ala828Pro)
n.3057G>C
c.2650G>C (p.Ala884Pro)
c.2464G>C (p.Ala822Pro)
n.3060G>C
c.2755G>C (p.Ala919Pro)
c.2821G>C (p.Ala941Pro)
c.2773G>C (p.Ala925Pro)
c.2638G>C (p.Ala880Pro)
16g.28835690G>TCA395408393ATXN2Lc.2827G>T (p.Ala943Ser)
c.802G>T (p.Ala268Ser)
n.3201G>T
c.22G>T (p.Ala8Ser)
c.2845G>T (p.Ala949Ser)
c.1891G>T (n.1891G>T)
c.96G>T
c.805G>T (p.Ala269Ser)
c.347G>T
c.2848G>T (p.Ala950Ser)
c.2830G>T (p.Ala944Ser)
c.2668G>T (p.Ala890Ser)
c.2776G>T (p.Ala926Ser)
c.2758G>T (p.Ala920Ser)
c.2482G>T (p.Ala828Ser)
n.3057G>T
c.2650G>T (p.Ala884Ser)
c.2464G>T (p.Ala822Ser)
n.3060G>T
c.2755G>T (p.Ala919Ser)
c.2821G>T (p.Ala941Ser)
c.2773G>T (p.Ala925Ser)
c.2638G>T (p.Ala880Ser)
16g.28835691C>ACA395408397ATXN2Lc.2828C>A (p.Ala943Asp)
c.803C>A (p.Ala268Asp)
n.3202C>A
c.23C>A (p.Ala8Asp)
c.2846C>A (p.Ala949Asp)
c.1892C>A (n.1892C>A)
c.97C>A
c.806C>A (p.Ala269Asp)
c.348C>A
c.2849C>A (p.Ala950Asp)
c.2831C>A (p.Ala944Asp)
c.2669C>A (p.Ala890Asp)
c.2777C>A (p.Ala926Asp)
c.2759C>A (p.Ala920Asp)
c.2483C>A (p.Ala828Asp)
n.3058C>A
c.2651C>A (p.Ala884Asp)
c.2465C>A (p.Ala822Asp)
n.3061C>A
c.2756C>A (p.Ala919Asp)
c.2822C>A (p.Ala941Asp)
c.2774C>A (p.Ala925Asp)
c.2639C>A (p.Ala880Asp)
16g.28835691C>GCA395408399ATXN2Lc.2828C>G (p.Ala943Gly)
c.803C>G (p.Ala268Gly)
n.3202C>G
c.23C>G (p.Ala8Gly)
c.2846C>G (p.Ala949Gly)
c.1892C>G (n.1892C>G)
c.97C>G
c.806C>G (p.Ala269Gly)
c.348C>G
c.2849C>G (p.Ala950Gly)
c.2831C>G (p.Ala944Gly)
c.2669C>G (p.Ala890Gly)
c.2777C>G (p.Ala926Gly)
c.2759C>G (p.Ala920Gly)
c.2483C>G (p.Ala828Gly)
n.3058C>G
c.2651C>G (p.Ala884Gly)
c.2465C>G (p.Ala822Gly)
n.3061C>G
c.2756C>G (p.Ala919Gly)
c.2822C>G (p.Ala941Gly)
c.2774C>G (p.Ala925Gly)
c.2639C>G (p.Ala880Gly)
16g.28835691C>TCA395408401ATXN2Lc.2828C>T (p.Ala943Val)
c.803C>T (p.Ala268Val)
n.3202C>T
c.23C>T (p.Ala8Val)
c.2846C>T (p.Ala949Val)
c.1892C>T (n.1892C>T)
c.97C>T
c.806C>T (p.Ala269Val)
c.348C>T
c.2849C>T (p.Ala950Val)
c.2831C>T (p.Ala944Val)
c.2669C>T (p.Ala890Val)
c.2777C>T (p.Ala926Val)
c.2759C>T (p.Ala920Val)
c.2483C>T (p.Ala828Val)
n.3058C>T
c.2651C>T (p.Ala884Val)
c.2465C>T (p.Ala822Val)
n.3061C>T
c.2756C>T (p.Ala919Val)
c.2822C>T (p.Ala941Val)
c.2774C>T (p.Ala925Val)
c.2639C>T (p.Ala880Val)
16g.28835692C>ACA494869183ATXN2Lc.2829C>A (p.Ala943=)
c.804C>A (p.Ala268=)
n.3203C>A
c.24C>A (p.Ala8=)
c.2847C>A (p.Ala949=)
c.1893C>A (n.1893C>A)
c.98C>A
c.807C>A (p.Ala269=)
c.349C>A
c.2850C>A (p.Ala950=)
c.2832C>A (p.Ala944=)
c.2670C>A (p.Ala890=)
c.2778C>A (p.Ala926=)
c.2760C>A (p.Ala920=)
c.2484C>A (p.Ala828=)
n.3059C>A
c.2652C>A (p.Ala884=)
c.2466C>A (p.Ala822=)
n.3062C>A
c.2757C>A (p.Ala919=)
c.2823C>A (p.Ala941=)
c.2775C>A (p.Ala925=)
c.2640C>A (p.Ala880=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835692C=CA2215806428ATXN2Lc.2829C= (p.Ala943=)
c.804C= (p.Ala268=)
n.3203C=
c.24C= (p.Ala8=)
c.2847C= (p.Ala949=)
c.1893C= (n.1893C=)
c.98C=
c.807C= (p.Ala269=)
c.349C=
c.2850C= (p.Ala950=)
c.2832C= (p.Ala944=)
c.2670C= (p.Ala890=)
c.2778C= (p.Ala926=)
c.2760C= (p.Ala920=)
c.2484C= (p.Ala828=)
n.3059C=
c.2652C= (p.Ala884=)
c.2466C= (p.Ala822=)
n.3062C=
c.2757C= (p.Ala919=)
c.2823C= (p.Ala941=)
c.2775C= (p.Ala925=)
c.2640C= (p.Ala880=)
16g.28835692C>GCA494869188ATXN2Lc.2829C>G (p.Ala943=)
c.804C>G (p.Ala268=)
n.3203C>G
c.24C>G (p.Ala8=)
c.2847C>G (p.Ala949=)
c.1893C>G (n.1893C>G)
c.98C>G
c.807C>G (p.Ala269=)
c.349C>G
c.2850C>G (p.Ala950=)
c.2832C>G (p.Ala944=)
c.2670C>G (p.Ala890=)
c.2778C>G (p.Ala926=)
c.2760C>G (p.Ala920=)
c.2484C>G (p.Ala828=)
n.3059C>G
c.2652C>G (p.Ala884=)
c.2466C>G (p.Ala822=)
n.3062C>G
c.2757C>G (p.Ala919=)
c.2823C>G (p.Ala941=)
c.2775C>G (p.Ala925=)
c.2640C>G (p.Ala880=)
16g.28835692C>TCA7985099ATXN2Lc.2829C>T (p.Ala943=)
c.804C>T (p.Ala268=)
n.3203C>T
c.24C>T (p.Ala8=)
c.2847C>T (p.Ala949=)
c.1893C>T (n.1893C>T)
c.98C>T
c.807C>T (p.Ala269=)
c.349C>T
c.2850C>T (p.Ala950=)
c.2832C>T (p.Ala944=)
c.2670C>T (p.Ala890=)
c.2778C>T (p.Ala926=)
c.2760C>T (p.Ala920=)
c.2484C>T (p.Ala828=)
n.3059C>T
c.2652C>T (p.Ala884=)
c.2466C>T (p.Ala822=)
n.3062C>T
c.2757C>T (p.Ala919=)
c.2823C>T (p.Ala941=)
c.2775C>T (p.Ala925=)
c.2640C>T (p.Ala880=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835693G>ACA7985100ATXN2Lc.2830G>A (p.Ala944Thr)
c.805G>A (p.Ala269Thr)
n.3204G>A
c.25G>A (p.Ala9Thr)
c.2848G>A (p.Ala950Thr)
c.1894G>A (n.1894G>A)
c.99G>A
c.808G>A (p.Ala270Thr)
c.350G>A
c.2851G>A (p.Ala951Thr)
c.2833G>A (p.Ala945Thr)
c.2671G>A (p.Ala891Thr)
c.2779G>A (p.Ala927Thr)
c.2761G>A (p.Ala921Thr)
c.2485G>A (p.Ala829Thr)
n.3060G>A
c.2653G>A (p.Ala885Thr)
c.2467G>A (p.Ala823Thr)
n.3063G>A
c.2758G>A (p.Ala920Thr)
c.2824G>A (p.Ala942Thr)
c.2776G>A (p.Ala926Thr)
c.2641G>A (p.Ala881Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835693G>CCA395408405ATXN2Lc.2830G>C (p.Ala944Pro)
c.805G>C (p.Ala269Pro)
n.3204G>C
c.25G>C (p.Ala9Pro)
c.2848G>C (p.Ala950Pro)
c.1894G>C (n.1894G>C)
c.99G>C
c.808G>C (p.Ala270Pro)
c.350G>C
c.2851G>C (p.Ala951Pro)
c.2833G>C (p.Ala945Pro)
c.2671G>C (p.Ala891Pro)
c.2779G>C (p.Ala927Pro)
c.2761G>C (p.Ala921Pro)
c.2485G>C (p.Ala829Pro)
n.3060G>C
c.2653G>C (p.Ala885Pro)
c.2467G>C (p.Ala823Pro)
n.3063G>C
c.2758G>C (p.Ala920Pro)
c.2824G>C (p.Ala942Pro)
c.2776G>C (p.Ala926Pro)
c.2641G>C (p.Ala881Pro)
16g.28835693G=CA2215806430ATXN2Lc.2830G= (p.Ala944=)
c.805G= (p.Ala269=)
n.3204G=
c.25G= (p.Ala9=)
c.2848G= (p.Ala950=)
c.1894G= (n.1894G=)
c.99G=
c.808G= (p.Ala270=)
c.350G=
c.2851G= (p.Ala951=)
c.2833G= (p.Ala945=)
c.2671G= (p.Ala891=)
c.2779G= (p.Ala927=)
c.2761G= (p.Ala921=)
c.2485G= (p.Ala829=)
n.3060G=
c.2653G= (p.Ala885=)
c.2467G= (p.Ala823=)
n.3063G=
c.2758G= (p.Ala920=)
c.2824G= (p.Ala942=)
c.2776G= (p.Ala926=)
c.2641G= (p.Ala881=)
16g.28835693G>TCA395408407ATXN2Lc.2830G>T (p.Ala944Ser)
c.805G>T (p.Ala269Ser)
n.3204G>T
c.25G>T (p.Ala9Ser)
c.2848G>T (p.Ala950Ser)
c.1894G>T (n.1894G>T)
c.99G>T
c.808G>T (p.Ala270Ser)
c.350G>T
c.2851G>T (p.Ala951Ser)
c.2833G>T (p.Ala945Ser)
c.2671G>T (p.Ala891Ser)
c.2779G>T (p.Ala927Ser)
c.2761G>T (p.Ala921Ser)
c.2485G>T (p.Ala829Ser)
n.3060G>T
c.2653G>T (p.Ala885Ser)
c.2467G>T (p.Ala823Ser)
n.3063G>T
c.2758G>T (p.Ala920Ser)
c.2824G>T (p.Ala942Ser)
c.2776G>T (p.Ala926Ser)
c.2641G>T (p.Ala881Ser)
16g.28835694C>ACA395408409ATXN2Lc.2831C>A (p.Ala944Asp)
c.806C>A (p.Ala269Asp)
n.3205C>A
c.26C>A (p.Ala9Asp)
c.2849C>A (p.Ala950Asp)
c.1895C>A (n.1895C>A)
c.100C>A
c.809C>A (p.Ala270Asp)
c.351C>A
c.2852C>A (p.Ala951Asp)
c.2834C>A (p.Ala945Asp)
c.2672C>A (p.Ala891Asp)
c.2780C>A (p.Ala927Asp)
c.2762C>A (p.Ala921Asp)
c.2486C>A (p.Ala829Asp)
n.3061C>A
c.2654C>A (p.Ala885Asp)
c.2468C>A (p.Ala823Asp)
n.3064C>A
c.2759C>A (p.Ala920Asp)
c.2825C>A (p.Ala942Asp)
c.2777C>A (p.Ala926Asp)
c.2642C>A (p.Ala881Asp)
16g.28835694C>GCA395408411ATXN2Lc.2831C>G (p.Ala944Gly)
c.806C>G (p.Ala269Gly)
n.3205C>G
c.26C>G (p.Ala9Gly)
c.2849C>G (p.Ala950Gly)
c.1895C>G (n.1895C>G)
c.100C>G
c.809C>G (p.Ala270Gly)
c.351C>G
c.2852C>G (p.Ala951Gly)
c.2834C>G (p.Ala945Gly)
c.2672C>G (p.Ala891Gly)
c.2780C>G (p.Ala927Gly)
c.2762C>G (p.Ala921Gly)
c.2486C>G (p.Ala829Gly)
n.3061C>G
c.2654C>G (p.Ala885Gly)
c.2468C>G (p.Ala823Gly)
n.3064C>G
c.2759C>G (p.Ala920Gly)
c.2825C>G (p.Ala942Gly)
c.2777C>G (p.Ala926Gly)
c.2642C>G (p.Ala881Gly)
16g.28835694C>TCA395408413ATXN2Lc.2831C>T (p.Ala944Val)
c.806C>T (p.Ala269Val)
n.3205C>T
c.26C>T (p.Ala9Val)
c.2849C>T (p.Ala950Val)
c.1895C>T (n.1895C>T)
c.100C>T
c.809C>T (p.Ala270Val)
c.351C>T
c.2852C>T (p.Ala951Val)
c.2834C>T (p.Ala945Val)
c.2672C>T (p.Ala891Val)
c.2780C>T (p.Ala927Val)
c.2762C>T (p.Ala921Val)
c.2486C>T (p.Ala829Val)
n.3061C>T
c.2654C>T (p.Ala885Val)
c.2468C>T (p.Ala823Val)
n.3064C>T
c.2759C>T (p.Ala920Val)
c.2825C>T (p.Ala942Val)
c.2777C>T (p.Ala926Val)
c.2642C>T (p.Ala881Val)
16g.28835695T>ACA494869213ATXN2Lc.2832T>A (p.Ala944=)
c.807T>A (p.Ala269=)
n.3206T>A
c.27T>A (p.Ala9=)
c.2850T>A (p.Ala950=)
c.1896T>A (n.1896T>A)
c.101T>A
c.810T>A (p.Ala270=)
c.352T>A
c.2853T>A (p.Ala951=)
c.2835T>A (p.Ala945=)
c.2673T>A (p.Ala891=)
c.2781T>A (p.Ala927=)
c.2763T>A (p.Ala921=)
c.2487T>A (p.Ala829=)
n.3062T>A
c.2655T>A (p.Ala885=)
c.2469T>A (p.Ala823=)
n.3065T>A
c.2760T>A (p.Ala920=)
c.2826T>A (p.Ala942=)
c.2778T>A (p.Ala926=)
c.2643T>A (p.Ala881=)
16g.28835695T>CCA494869217ATXN2Lc.2832T>C (p.Ala944=)
c.807T>C (p.Ala269=)
n.3206T>C
c.27T>C (p.Ala9=)
c.2850T>C (p.Ala950=)
c.1896T>C (n.1896T>C)
c.101T>C
c.810T>C (p.Ala270=)
c.352T>C
c.2853T>C (p.Ala951=)
c.2835T>C (p.Ala945=)
c.2673T>C (p.Ala891=)
c.2781T>C (p.Ala927=)
c.2763T>C (p.Ala921=)
c.2487T>C (p.Ala829=)
n.3062T>C
c.2655T>C (p.Ala885=)
c.2469T>C (p.Ala823=)
n.3065T>C
c.2760T>C (p.Ala920=)
c.2826T>C (p.Ala942=)
c.2778T>C (p.Ala926=)
c.2643T>C (p.Ala881=)
 dbSNP gnomAD v4
16g.28835695T>GCA494869221ATXN2Lc.2832T>G (p.Ala944=)
c.807T>G (p.Ala269=)
n.3206T>G
c.27T>G (p.Ala9=)
c.2850T>G (p.Ala950=)
c.1896T>G (n.1896T>G)
c.101T>G
c.810T>G (p.Ala270=)
c.352T>G
c.2853T>G (p.Ala951=)
c.2835T>G (p.Ala945=)
c.2673T>G (p.Ala891=)
c.2781T>G (p.Ala927=)
c.2763T>G (p.Ala921=)
c.2487T>G (p.Ala829=)
n.3062T>G
c.2655T>G (p.Ala885=)
c.2469T>G (p.Ala823=)
n.3065T>G
c.2760T>G (p.Ala920=)
c.2826T>G (p.Ala942=)
c.2778T>G (p.Ala926=)
c.2643T>G (p.Ala881=)
16g.28835695T=CA2215806432ATXN2Lc.2832T= (p.Ala944=)
c.807T= (p.Ala269=)
n.3206T=
c.27T= (p.Ala9=)
c.2850T= (p.Ala950=)
c.1896T= (n.1896T=)
c.101T=
c.810T= (p.Ala270=)
c.352T=
c.2853T= (p.Ala951=)
c.2835T= (p.Ala945=)
c.2673T= (p.Ala891=)
c.2781T= (p.Ala927=)
c.2763T= (p.Ala921=)
c.2487T= (p.Ala829=)
n.3062T=
c.2655T= (p.Ala885=)
c.2469T= (p.Ala823=)
n.3065T=
c.2760T= (p.Ala920=)
c.2826T= (p.Ala942=)
c.2778T= (p.Ala926=)
c.2643T= (p.Ala881=)
16g.28835696G>ACA395408415ATXN2Lc.2833G>A (p.Val945Met)
c.808G>A (p.Val270Met)
n.3207G>A
c.28G>A (p.Val10Met)
c.2851G>A (p.Val951Met)
c.1897G>A (n.1897G>A)
c.102G>A
c.811G>A (p.Val271Met)
c.353G>A
c.2854G>A (p.Val952Met)
c.2836G>A (p.Val946Met)
c.2674G>A (p.Val892Met)
c.2782G>A (p.Val928Met)
c.2764G>A (p.Val922Met)
c.2488G>A (p.Val830Met)
n.3063G>A
c.2656G>A (p.Val886Met)
c.2470G>A (p.Val824Met)
n.3066G>A
c.2761G>A (p.Val921Met)
c.2827G>A (p.Val943Met)
c.2779G>A (p.Val927Met)
c.2644G>A (p.Val882Met)
16g.28835696G>CCA395408417ATXN2Lc.2833G>C (p.Val945Leu)
c.808G>C (p.Val270Leu)
n.3207G>C
c.28G>C (p.Val10Leu)
c.2851G>C (p.Val951Leu)
c.1897G>C (n.1897G>C)
c.102G>C
c.811G>C (p.Val271Leu)
c.353G>C
c.2854G>C (p.Val952Leu)
c.2836G>C (p.Val946Leu)
c.2674G>C (p.Val892Leu)
c.2782G>C (p.Val928Leu)
c.2764G>C (p.Val922Leu)
c.2488G>C (p.Val830Leu)
n.3063G>C
c.2656G>C (p.Val886Leu)
c.2470G>C (p.Val824Leu)
n.3066G>C
c.2761G>C (p.Val921Leu)
c.2827G>C (p.Val943Leu)
c.2779G>C (p.Val927Leu)
c.2644G>C (p.Val882Leu)
16g.28835696G>TCA395408419ATXN2Lc.2833G>T (p.Val945Leu)
c.808G>T (p.Val270Leu)
n.3207G>T
c.28G>T (p.Val10Leu)
c.2851G>T (p.Val951Leu)
c.1897G>T (n.1897G>T)
c.102G>T
c.811G>T (p.Val271Leu)
c.353G>T
c.2854G>T (p.Val952Leu)
c.2836G>T (p.Val946Leu)
c.2674G>T (p.Val892Leu)
c.2782G>T (p.Val928Leu)
c.2764G>T (p.Val922Leu)
c.2488G>T (p.Val830Leu)
n.3063G>T
c.2656G>T (p.Val886Leu)
c.2470G>T (p.Val824Leu)
n.3066G>T
c.2761G>T (p.Val921Leu)
c.2827G>T (p.Val943Leu)
c.2779G>T (p.Val927Leu)
c.2644G>T (p.Val882Leu)
16g.28835697T>ACA395408424ATXN2Lc.2834T>A (p.Val945Glu)
c.809T>A (p.Val270Glu)
n.3208T>A
c.29T>A (p.Val10Glu)
c.2852T>A (p.Val951Glu)
c.1898T>A (n.1898T>A)
c.103T>A
c.812T>A (p.Val271Glu)
c.354T>A
c.2855T>A (p.Val952Glu)
c.2837T>A (p.Val946Glu)
c.2675T>A (p.Val892Glu)
c.2783T>A (p.Val928Glu)
c.2765T>A (p.Val922Glu)
c.2489T>A (p.Val830Glu)
n.3064T>A
c.2657T>A (p.Val886Glu)
c.2471T>A (p.Val824Glu)
n.3067T>A
c.2762T>A (p.Val921Glu)
c.2828T>A (p.Val943Glu)
c.2780T>A (p.Val927Glu)
c.2645T>A (p.Val882Glu)
16g.28835697T>CCA395408421ATXN2Lc.2834T>C (p.Val945Ala)
c.809T>C (p.Val270Ala)
n.3208T>C
c.29T>C (p.Val10Ala)
c.2852T>C (p.Val951Ala)
c.1898T>C (n.1898T>C)
c.103T>C
c.812T>C (p.Val271Ala)
c.354T>C
c.2855T>C (p.Val952Ala)
c.2837T>C (p.Val946Ala)
c.2675T>C (p.Val892Ala)
c.2783T>C (p.Val928Ala)
c.2765T>C (p.Val922Ala)
c.2489T>C (p.Val830Ala)
n.3064T>C
c.2657T>C (p.Val886Ala)
c.2471T>C (p.Val824Ala)
n.3067T>C
c.2762T>C (p.Val921Ala)
c.2828T>C (p.Val943Ala)
c.2780T>C (p.Val927Ala)
c.2645T>C (p.Val882Ala)
16g.28835697T>GCA395408423ATXN2Lc.2834T>G (p.Val945Gly)
c.809T>G (p.Val270Gly)
n.3208T>G
c.29T>G (p.Val10Gly)
c.2852T>G (p.Val951Gly)
c.1898T>G (n.1898T>G)
c.103T>G
c.812T>G (p.Val271Gly)
c.354T>G
c.2855T>G (p.Val952Gly)
c.2837T>G (p.Val946Gly)
c.2675T>G (p.Val892Gly)
c.2783T>G (p.Val928Gly)
c.2765T>G (p.Val922Gly)
c.2489T>G (p.Val830Gly)
n.3064T>G
c.2657T>G (p.Val886Gly)
c.2471T>G (p.Val824Gly)
n.3067T>G
c.2762T>G (p.Val921Gly)
c.2828T>G (p.Val943Gly)
c.2780T>G (p.Val927Gly)
c.2645T>G (p.Val882Gly)
16g.28835698G>ACA494869242ATXN2Lc.2835G>A (p.Val945=)
c.810G>A (p.Val270=)
n.3209G>A
c.30G>A (p.Val10=)
c.2853G>A (p.Val951=)
c.1899G>A (n.1899G>A)
c.104G>A
c.813G>A (p.Val271=)
c.355G>A
c.2856G>A (p.Val952=)
c.2838G>A (p.Val946=)
c.2676G>A (p.Val892=)
c.2784G>A (p.Val928=)
c.2766G>A (p.Val922=)
c.2490G>A (p.Val830=)
n.3065G>A
c.2658G>A (p.Val886=)
c.2472G>A (p.Val824=)
n.3068G>A
c.2763G>A (p.Val921=)
c.2829G>A (p.Val943=)
c.2781G>A (p.Val927=)
c.2646G>A (p.Val882=)
16g.28835698G>CCA494869245ATXN2Lc.2835G>C (p.Val945=)
c.810G>C (p.Val270=)
n.3209G>C
c.30G>C (p.Val10=)
c.2853G>C (p.Val951=)
c.1899G>C (n.1899G>C)
c.104G>C
c.813G>C (p.Val271=)
c.355G>C
c.2856G>C (p.Val952=)
c.2838G>C (p.Val946=)
c.2676G>C (p.Val892=)
c.2784G>C (p.Val928=)
c.2766G>C (p.Val922=)
c.2490G>C (p.Val830=)
n.3065G>C
c.2658G>C (p.Val886=)
c.2472G>C (p.Val824=)
n.3068G>C
c.2763G>C (p.Val921=)
c.2829G>C (p.Val943=)
c.2781G>C (p.Val927=)
c.2646G>C (p.Val882=)
16g.28835698G>TCA494869250ATXN2Lc.2835G>T (p.Val945=)
c.810G>T (p.Val270=)
n.3209G>T
c.30G>T (p.Val10=)
c.2853G>T (p.Val951=)
c.1899G>T (n.1899G>T)
c.104G>T
c.813G>T (p.Val271=)
c.355G>T
c.2856G>T (p.Val952=)
c.2838G>T (p.Val946=)
c.2676G>T (p.Val892=)
c.2784G>T (p.Val928=)
c.2766G>T (p.Val922=)
c.2490G>T (p.Val830=)
n.3065G>T
c.2658G>T (p.Val886=)
c.2472G>T (p.Val824=)
n.3068G>T
c.2763G>T (p.Val921=)
c.2829G>T (p.Val943=)
c.2781G>T (p.Val927=)
c.2646G>T (p.Val882=)
16g.28835699T>ACA395408427ATXN2Lc.2836T>A (p.Tyr946Asn)
c.811T>A (p.Tyr271Asn)
n.3210T>A
c.31T>A (p.Tyr11Asn)
c.2854T>A (p.Tyr952Asn)
c.1900T>A (n.1900T>A)
c.105T>A
c.814T>A (p.Tyr272Asn)
c.356T>A
c.2857T>A (p.Tyr953Asn)
c.2839T>A (p.Tyr947Asn)
c.2677T>A (p.Tyr893Asn)
c.2785T>A (p.Tyr929Asn)
c.2767T>A (p.Tyr923Asn)
c.2491T>A (p.Tyr831Asn)
n.3066T>A
c.2659T>A (p.Tyr887Asn)
c.2473T>A (p.Tyr825Asn)
n.3069T>A
c.2764T>A (p.Tyr922Asn)
c.2830T>A (p.Tyr944Asn)
c.2782T>A (p.Tyr928Asn)
c.2647T>A (p.Tyr883Asn)
16g.28835699T>CCA395408429ATXN2Lc.2836T>C (p.Tyr946His)
c.811T>C (p.Tyr271His)
n.3210T>C
c.31T>C (p.Tyr11His)
c.2854T>C (p.Tyr952His)
c.1900T>C (n.1900T>C)
c.105T>C
c.814T>C (p.Tyr272His)
c.356T>C
c.2857T>C (p.Tyr953His)
c.2839T>C (p.Tyr947His)
c.2677T>C (p.Tyr893His)
c.2785T>C (p.Tyr929His)
c.2767T>C (p.Tyr923His)
c.2491T>C (p.Tyr831His)
n.3066T>C
c.2659T>C (p.Tyr887His)
c.2473T>C (p.Tyr825His)
n.3069T>C
c.2764T>C (p.Tyr922His)
c.2830T>C (p.Tyr944His)
c.2782T>C (p.Tyr928His)
c.2647T>C (p.Tyr883His)
16g.28835699T>GCA395408431ATXN2Lc.2836T>G (p.Tyr946Asp)
c.811T>G (p.Tyr271Asp)
n.3210T>G
c.31T>G (p.Tyr11Asp)
c.2854T>G (p.Tyr952Asp)
c.1900T>G (n.1900T>G)
c.105T>G
c.814T>G (p.Tyr272Asp)
c.356T>G
c.2857T>G (p.Tyr953Asp)
c.2839T>G (p.Tyr947Asp)
c.2677T>G (p.Tyr893Asp)
c.2785T>G (p.Tyr929Asp)
c.2767T>G (p.Tyr923Asp)
c.2491T>G (p.Tyr831Asp)
n.3066T>G
c.2659T>G (p.Tyr887Asp)
c.2473T>G (p.Tyr825Asp)
n.3069T>G
c.2764T>G (p.Tyr922Asp)
c.2830T>G (p.Tyr944Asp)
c.2782T>G (p.Tyr928Asp)
c.2647T>G (p.Tyr883Asp)
16g.28835700A>CCA395408433ATXN2Lc.2837A>C (p.Tyr946Ser)
c.812A>C (p.Tyr271Ser)
n.3211A>C
c.32A>C (p.Tyr11Ser)
c.2855A>C (p.Tyr952Ser)
c.1901A>C (n.1901A>C)
c.106A>C
c.815A>C (p.Tyr272Ser)
c.357A>C
c.2858A>C (p.Tyr953Ser)
c.2840A>C (p.Tyr947Ser)
c.2678A>C (p.Tyr893Ser)
c.2786A>C (p.Tyr929Ser)
c.2768A>C (p.Tyr923Ser)
c.2492A>C (p.Tyr831Ser)
n.3067A>C
c.2660A>C (p.Tyr887Ser)
c.2474A>C (p.Tyr825Ser)
n.3070A>C
c.2765A>C (p.Tyr922Ser)
c.2831A>C (p.Tyr944Ser)
c.2783A>C (p.Tyr928Ser)
c.2648A>C (p.Tyr883Ser)
16g.28835700A>GCA395408435ATXN2Lc.2837A>G (p.Tyr946Cys)
c.812A>G (p.Tyr271Cys)
n.3211A>G
c.32A>G (p.Tyr11Cys)
c.2855A>G (p.Tyr952Cys)
c.1901A>G (n.1901A>G)
c.106A>G
c.815A>G (p.Tyr272Cys)
c.357A>G
c.2858A>G (p.Tyr953Cys)
c.2840A>G (p.Tyr947Cys)
c.2678A>G (p.Tyr893Cys)
c.2786A>G (p.Tyr929Cys)
c.2768A>G (p.Tyr923Cys)
c.2492A>G (p.Tyr831Cys)
n.3067A>G
c.2660A>G (p.Tyr887Cys)
c.2474A>G (p.Tyr825Cys)
n.3070A>G
c.2765A>G (p.Tyr922Cys)
c.2831A>G (p.Tyr944Cys)
c.2783A>G (p.Tyr928Cys)
c.2648A>G (p.Tyr883Cys)
16g.28835700A>TCA395408436ATXN2Lc.2837A>T (p.Tyr946Phe)
c.812A>T (p.Tyr271Phe)
n.3211A>T
c.32A>T (p.Tyr11Phe)
c.2855A>T (p.Tyr952Phe)
c.1901A>T (n.1901A>T)
c.106A>T
c.815A>T (p.Tyr272Phe)
c.357A>T
c.2858A>T (p.Tyr953Phe)
c.2840A>T (p.Tyr947Phe)
c.2678A>T (p.Tyr893Phe)
c.2786A>T (p.Tyr929Phe)
c.2768A>T (p.Tyr923Phe)
c.2492A>T (p.Tyr831Phe)
n.3067A>T
c.2660A>T (p.Tyr887Phe)
c.2474A>T (p.Tyr825Phe)
n.3070A>T
c.2765A>T (p.Tyr922Phe)
c.2831A>T (p.Tyr944Phe)
c.2783A>T (p.Tyr928Phe)
c.2648A>T (p.Tyr883Phe)
 gnomAD v4
16g.28835701T>ACA395408439ATXN2Lc.2838T>A (p.Tyr946Ter)
c.813T>A (p.Tyr271Ter)
n.3212T>A
c.33T>A (p.Tyr11Ter)
c.2856T>A (p.Tyr952Ter)
c.1902T>A (n.1902T>A)
c.107T>A
c.816T>A (p.Tyr272Ter)
c.358T>A
c.2859T>A (p.Tyr953Ter)
c.2841T>A (p.Tyr947Ter)
c.2679T>A (p.Tyr893Ter)
c.2787T>A (p.Tyr929Ter)
c.2769T>A (p.Tyr923Ter)
c.2493T>A (p.Tyr831Ter)
n.3068T>A
c.2661T>A (p.Tyr887Ter)
c.2475T>A (p.Tyr825Ter)
n.3071T>A
c.2766T>A (p.Tyr922Ter)
c.2832T>A (p.Tyr944Ter)
c.2784T>A (p.Tyr928Ter)
c.2649T>A (p.Tyr883Ter)
16g.28835701T>CCA494869273ATXN2Lc.2838T>C (p.Tyr946=)
c.813T>C (p.Tyr271=)
n.3212T>C
c.33T>C (p.Tyr11=)
c.2856T>C (p.Tyr952=)
c.1902T>C (n.1902T>C)
c.107T>C
c.816T>C (p.Tyr272=)
c.358T>C
c.2859T>C (p.Tyr953=)
c.2841T>C (p.Tyr947=)
c.2679T>C (p.Tyr893=)
c.2787T>C (p.Tyr929=)
c.2769T>C (p.Tyr923=)
c.2493T>C (p.Tyr831=)
n.3068T>C
c.2661T>C (p.Tyr887=)
c.2475T>C (p.Tyr825=)
n.3071T>C
c.2766T>C (p.Tyr922=)
c.2832T>C (p.Tyr944=)
c.2784T>C (p.Tyr928=)
c.2649T>C (p.Tyr883=)
 dbSNP gnomAD v3 gnomAD v4
16g.28835701T>GCA395408440ATXN2Lc.2838T>G (p.Tyr946Ter)
c.813T>G (p.Tyr271Ter)
n.3212T>G
c.33T>G (p.Tyr11Ter)
c.2856T>G (p.Tyr952Ter)
c.1902T>G (n.1902T>G)
c.107T>G
c.816T>G (p.Tyr272Ter)
c.358T>G
c.2859T>G (p.Tyr953Ter)
c.2841T>G (p.Tyr947Ter)
c.2679T>G (p.Tyr893Ter)
c.2787T>G (p.Tyr929Ter)
c.2769T>G (p.Tyr923Ter)
c.2493T>G (p.Tyr831Ter)
n.3068T>G
c.2661T>G (p.Tyr887Ter)
c.2475T>G (p.Tyr825Ter)
n.3071T>G
c.2766T>G (p.Tyr922Ter)
c.2832T>G (p.Tyr944Ter)
c.2784T>G (p.Tyr928Ter)
c.2649T>G (p.Tyr883Ter)
16g.28835701T=CA2215806435ATXN2Lc.2838T= (p.Tyr946=)
c.813T= (p.Tyr271=)
n.3212T=
c.33T= (p.Tyr11=)
c.2856T= (p.Tyr952=)
c.1902T= (n.1902T=)
c.107T=
c.816T= (p.Tyr272=)
c.358T=
c.2859T= (p.Tyr953=)
c.2841T= (p.Tyr947=)
c.2679T= (p.Tyr893=)
c.2787T= (p.Tyr929=)
c.2769T= (p.Tyr923=)
c.2493T= (p.Tyr831=)
n.3068T=
c.2661T= (p.Tyr887=)
c.2475T= (p.Tyr825=)
n.3071T=
c.2766T= (p.Tyr922=)
c.2832T= (p.Tyr944=)
c.2784T= (p.Tyr928=)
c.2649T= (p.Tyr883=)
16g.28835702G>ACA395408442ATXN2Lc.2839G>A (p.Ala947Thr)
c.814G>A (p.Ala272Thr)
n.3213G>A
c.34G>A (p.Ala12Thr)
c.2857G>A (p.Ala953Thr)
c.1903G>A (n.1903G>A)
c.108G>A
c.817G>A (p.Ala273Thr)
c.359G>A
c.2860G>A (p.Ala954Thr)
c.2842G>A (p.Ala948Thr)
c.2680G>A (p.Ala894Thr)
c.2788G>A (p.Ala930Thr)
c.2770G>A (p.Ala924Thr)
c.2494G>A (p.Ala832Thr)
n.3069G>A
c.2662G>A (p.Ala888Thr)
c.2476G>A (p.Ala826Thr)
n.3072G>A
c.2767G>A (p.Ala923Thr)
c.2833G>A (p.Ala945Thr)
c.2785G>A (p.Ala929Thr)
c.2650G>A (p.Ala884Thr)
16g.28835702G>CCA395408444ATXN2Lc.2839G>C (p.Ala947Pro)
c.814G>C (p.Ala272Pro)
n.3213G>C
c.34G>C (p.Ala12Pro)
c.2857G>C (p.Ala953Pro)
c.1903G>C (n.1903G>C)
c.108G>C
c.817G>C (p.Ala273Pro)
c.359G>C
c.2860G>C (p.Ala954Pro)
c.2842G>C (p.Ala948Pro)
c.2680G>C (p.Ala894Pro)
c.2788G>C (p.Ala930Pro)
c.2770G>C (p.Ala924Pro)
c.2494G>C (p.Ala832Pro)
n.3069G>C
c.2662G>C (p.Ala888Pro)
c.2476G>C (p.Ala826Pro)
n.3072G>C
c.2767G>C (p.Ala923Pro)
c.2833G>C (p.Ala945Pro)
c.2785G>C (p.Ala929Pro)
c.2650G>C (p.Ala884Pro)
16g.28835702G>TCA395408446ATXN2Lc.2839G>T (p.Ala947Ser)
c.814G>T (p.Ala272Ser)
n.3213G>T
c.34G>T (p.Ala12Ser)
c.2857G>T (p.Ala953Ser)
c.1903G>T (n.1903G>T)
c.108G>T
c.817G>T (p.Ala273Ser)
c.359G>T
c.2860G>T (p.Ala954Ser)
c.2842G>T (p.Ala948Ser)
c.2680G>T (p.Ala894Ser)
c.2788G>T (p.Ala930Ser)
c.2770G>T (p.Ala924Ser)
c.2494G>T (p.Ala832Ser)
n.3069G>T
c.2662G>T (p.Ala888Ser)
c.2476G>T (p.Ala826Ser)
n.3072G>T
c.2767G>T (p.Ala923Ser)
c.2833G>T (p.Ala945Ser)
c.2785G>T (p.Ala929Ser)
c.2650G>T (p.Ala884Ser)
16g.28835703C>ACA395408448ATXN2Lc.2840C>A (p.Ala947Asp)
c.815C>A (p.Ala272Asp)
n.3214C>A
c.35C>A (p.Ala12Asp)
c.2858C>A (p.Ala953Asp)
c.1904C>A (n.1904C>A)
c.109C>A
c.818C>A (p.Ala273Asp)
c.360C>A
c.2861C>A (p.Ala954Asp)
c.2843C>A (p.Ala948Asp)
c.2681C>A (p.Ala894Asp)
c.2789C>A (p.Ala930Asp)
c.2771C>A (p.Ala924Asp)
c.2495C>A (p.Ala832Asp)
n.3070C>A
c.2663C>A (p.Ala888Asp)
c.2477C>A (p.Ala826Asp)
n.3073C>A
c.2768C>A (p.Ala923Asp)
c.2834C>A (p.Ala945Asp)
c.2786C>A (p.Ala929Asp)
c.2651C>A (p.Ala884Asp)
16g.28835703C>GCA395408452ATXN2Lc.2840C>G (p.Ala947Gly)
c.815C>G (p.Ala272Gly)
n.3214C>G
c.35C>G (p.Ala12Gly)
c.2858C>G (p.Ala953Gly)
c.1904C>G (n.1904C>G)
c.109C>G
c.818C>G (p.Ala273Gly)
c.360C>G
c.2861C>G (p.Ala954Gly)
c.2843C>G (p.Ala948Gly)
c.2681C>G (p.Ala894Gly)
c.2789C>G (p.Ala930Gly)
c.2771C>G (p.Ala924Gly)
c.2495C>G (p.Ala832Gly)
n.3070C>G
c.2663C>G (p.Ala888Gly)
c.2477C>G (p.Ala826Gly)
n.3073C>G
c.2768C>G (p.Ala923Gly)
c.2834C>G (p.Ala945Gly)
c.2786C>G (p.Ala929Gly)
c.2651C>G (p.Ala884Gly)
16g.28835703C>TCA395408450ATXN2Lc.2840C>T (p.Ala947Val)
c.815C>T (p.Ala272Val)
n.3214C>T
c.35C>T (p.Ala12Val)
c.2858C>T (p.Ala953Val)
c.1904C>T (n.1904C>T)
c.109C>T
c.818C>T (p.Ala273Val)
c.360C>T
c.2861C>T (p.Ala954Val)
c.2843C>T (p.Ala948Val)
c.2681C>T (p.Ala894Val)
c.2789C>T (p.Ala930Val)
c.2771C>T (p.Ala924Val)
c.2495C>T (p.Ala832Val)
n.3070C>T
c.2663C>T (p.Ala888Val)
c.2477C>T (p.Ala826Val)
n.3073C>T
c.2768C>T (p.Ala923Val)
c.2834C>T (p.Ala945Val)
c.2786C>T (p.Ala929Val)
c.2651C>T (p.Ala884Val)
 gnomAD v4
16g.28835704C>ACA494869299ATXN2Lc.2841C>A (p.Ala947=)
c.816C>A (p.Ala272=)
n.3215C>A
c.36C>A (p.Ala12=)
c.2859C>A (p.Ala953=)
c.1905C>A (n.1905C>A)
c.110C>A
c.819C>A (p.Ala273=)
c.361C>A
c.2862C>A (p.Ala954=)
c.2844C>A (p.Ala948=)
c.2682C>A (p.Ala894=)
c.2790C>A (p.Ala930=)
c.2772C>A (p.Ala924=)
c.2496C>A (p.Ala832=)
n.3071C>A
c.2664C>A (p.Ala888=)
c.2478C>A (p.Ala826=)
n.3074C>A
c.2769C>A (p.Ala923=)
c.2835C>A (p.Ala945=)
c.2787C>A (p.Ala929=)
c.2652C>A (p.Ala884=)
16g.28835704C=CA2215806439ATXN2Lc.2841C= (p.Ala947=)
c.816C= (p.Ala272=)
n.3215C=
c.36C= (p.Ala12=)
c.2859C= (p.Ala953=)
c.1905C= (n.1905C=)
c.110C=
c.819C= (p.Ala273=)
c.361C=
c.2862C= (p.Ala954=)
c.2844C= (p.Ala948=)
c.2682C= (p.Ala894=)
c.2790C= (p.Ala930=)
c.2772C= (p.Ala924=)
c.2496C= (p.Ala832=)
n.3071C=
c.2664C= (p.Ala888=)
c.2478C= (p.Ala826=)
n.3074C=
c.2769C= (p.Ala923=)
c.2835C= (p.Ala945=)
c.2787C= (p.Ala929=)
c.2652C= (p.Ala884=)
16g.28835704C>GCA494869302ATXN2Lc.2841C>G (p.Ala947=)
c.816C>G (p.Ala272=)
n.3215C>G
c.36C>G (p.Ala12=)
c.2859C>G (p.Ala953=)
c.1905C>G (n.1905C>G)
c.110C>G
c.819C>G (p.Ala273=)
c.361C>G
c.2862C>G (p.Ala954=)
c.2844C>G (p.Ala948=)
c.2682C>G (p.Ala894=)
c.2790C>G (p.Ala930=)
c.2772C>G (p.Ala924=)
c.2496C>G (p.Ala832=)
n.3071C>G
c.2664C>G (p.Ala888=)
c.2478C>G (p.Ala826=)
n.3074C>G
c.2769C>G (p.Ala923=)
c.2835C>G (p.Ala945=)
c.2787C>G (p.Ala929=)
c.2652C>G (p.Ala884=)
16g.28835704C>TCA7985101ATXN2Lc.2841C>T (p.Ala947=)
c.816C>T (p.Ala272=)
n.3215C>T
c.36C>T (p.Ala12=)
c.2859C>T (p.Ala953=)
c.1905C>T (n.1905C>T)
c.110C>T
c.819C>T (p.Ala273=)
c.361C>T
c.2862C>T (p.Ala954=)
c.2844C>T (p.Ala948=)
c.2682C>T (p.Ala894=)
c.2790C>T (p.Ala930=)
c.2772C>T (p.Ala924=)
c.2496C>T (p.Ala832=)
n.3071C>T
c.2664C>T (p.Ala888=)
c.2478C>T (p.Ala826=)
n.3074C>T
c.2769C>T (p.Ala923=)
c.2835C>T (p.Ala945=)
c.2787C>T (p.Ala929=)
c.2652C>T (p.Ala884=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835705A>CCA395408457ATXN2Lc.2842A>C (p.Ile948Leu)
c.817A>C (p.Ile273Leu)
n.3216A>C
c.37A>C (p.Ile13Leu)
c.2860A>C (p.Ile954Leu)
c.1906A>C (n.1906A>C)
c.111A>C
c.820A>C (p.Ile274Leu)
c.362A>C
c.2863A>C (p.Ile955Leu)
c.2845A>C (p.Ile949Leu)
c.2683A>C (p.Ile895Leu)
c.2791A>C (p.Ile931Leu)
c.2773A>C (p.Ile925Leu)
c.2497A>C (p.Ile833Leu)
n.3072A>C
c.2665A>C (p.Ile889Leu)
c.2479A>C (p.Ile827Leu)
n.3075A>C
c.2770A>C (p.Ile924Leu)
c.2836A>C (p.Ile946Leu)
c.2788A>C (p.Ile930Leu)
c.2653A>C (p.Ile885Leu)
16g.28835705A>GCA395408455ATXN2Lc.2842A>G (p.Ile948Val)
c.817A>G (p.Ile273Val)
n.3216A>G
c.37A>G (p.Ile13Val)
c.2860A>G (p.Ile954Val)
c.1906A>G (n.1906A>G)
c.111A>G
c.820A>G (p.Ile274Val)
c.362A>G
c.2863A>G (p.Ile955Val)
c.2845A>G (p.Ile949Val)
c.2683A>G (p.Ile895Val)
c.2791A>G (p.Ile931Val)
c.2773A>G (p.Ile925Val)
c.2497A>G (p.Ile833Val)
n.3072A>G
c.2665A>G (p.Ile889Val)
c.2479A>G (p.Ile827Val)
n.3075A>G
c.2770A>G (p.Ile924Val)
c.2836A>G (p.Ile946Val)
c.2788A>G (p.Ile930Val)
c.2653A>G (p.Ile885Val)
 COSMIC COSMIC COSMIC COSMIC
16g.28835705A>TCA395408459ATXN2Lc.2842A>T (p.Ile948Phe)
c.817A>T (p.Ile273Phe)
n.3216A>T
c.37A>T (p.Ile13Phe)
c.2860A>T (p.Ile954Phe)
c.1906A>T (n.1906A>T)
c.111A>T
c.820A>T (p.Ile274Phe)
c.362A>T
c.2863A>T (p.Ile955Phe)
c.2845A>T (p.Ile949Phe)
c.2683A>T (p.Ile895Phe)
c.2791A>T (p.Ile931Phe)
c.2773A>T (p.Ile925Phe)
c.2497A>T (p.Ile833Phe)
n.3072A>T
c.2665A>T (p.Ile889Phe)
c.2479A>T (p.Ile827Phe)
n.3075A>T
c.2770A>T (p.Ile924Phe)
c.2836A>T (p.Ile946Phe)
c.2788A>T (p.Ile930Phe)
c.2653A>T (p.Ile885Phe)
 gnomAD v4
16g.28835706T>ACA395408461ATXN2Lc.2843T>A (p.Ile948Asn)
c.818T>A (p.Ile273Asn)
n.3217T>A
c.38T>A (p.Ile13Asn)
c.2861T>A (p.Ile954Asn)
c.1907T>A (n.1907T>A)
c.112T>A
c.821T>A (p.Ile274Asn)
c.363T>A
c.2864T>A (p.Ile955Asn)
c.2846T>A (p.Ile949Asn)
c.2684T>A (p.Ile895Asn)
c.2792T>A (p.Ile931Asn)
c.2774T>A (p.Ile925Asn)
c.2498T>A (p.Ile833Asn)
n.3073T>A
c.2666T>A (p.Ile889Asn)
c.2480T>A (p.Ile827Asn)
n.3076T>A
c.2771T>A (p.Ile924Asn)
c.2837T>A (p.Ile946Asn)
c.2789T>A (p.Ile930Asn)
c.2654T>A (p.Ile885Asn)
16g.28835706T>CCA395408465ATXN2Lc.2843T>C (p.Ile948Thr)
c.818T>C (p.Ile273Thr)
n.3217T>C
c.38T>C (p.Ile13Thr)
c.2861T>C (p.Ile954Thr)
c.1907T>C (n.1907T>C)
c.112T>C
c.821T>C (p.Ile274Thr)
c.363T>C
c.2864T>C (p.Ile955Thr)
c.2846T>C (p.Ile949Thr)
c.2684T>C (p.Ile895Thr)
c.2792T>C (p.Ile931Thr)
c.2774T>C (p.Ile925Thr)
c.2498T>C (p.Ile833Thr)
n.3073T>C
c.2666T>C (p.Ile889Thr)
c.2480T>C (p.Ile827Thr)
n.3076T>C
c.2771T>C (p.Ile924Thr)
c.2837T>C (p.Ile946Thr)
c.2789T>C (p.Ile930Thr)
c.2654T>C (p.Ile885Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.28835706T>GCA395408463ATXN2Lc.2843T>G (p.Ile948Ser)
c.818T>G (p.Ile273Ser)
n.3217T>G
c.38T>G (p.Ile13Ser)
c.2861T>G (p.Ile954Ser)
c.1907T>G (n.1907T>G)
c.112T>G
c.821T>G (p.Ile274Ser)
c.363T>G
c.2864T>G (p.Ile955Ser)
c.2846T>G (p.Ile949Ser)
c.2684T>G (p.Ile895Ser)
c.2792T>G (p.Ile931Ser)
c.2774T>G (p.Ile925Ser)
c.2498T>G (p.Ile833Ser)
n.3073T>G
c.2666T>G (p.Ile889Ser)
c.2480T>G (p.Ile827Ser)
n.3076T>G
c.2771T>G (p.Ile924Ser)
c.2837T>G (p.Ile946Ser)
c.2789T>G (p.Ile930Ser)
c.2654T>G (p.Ile885Ser)
16g.28835706_28835709delinsTCCACA2215806444ATXN2Lc.2843_2846delinsTCCA (p.Ile948=)
c.818_821delinsTCCA (p.Ile273=)
n.3217_3220delinsTCCA
c.38_41delinsTCCA (p.Ile13=)
c.2861_2864delinsTCCA (p.Ile954=)
c.1907_1910delinsTCCA (n.1907_1910delinsTCCA)
c.112_115delinsTCCA
c.821_824delinsTCCA (p.Ile274=)
c.363_366delinsTCCA
c.2864_2867delinsTCCA (p.Ile955=)
c.2846_2849delinsTCCA (p.Ile949=)
c.2684_2687delinsTCCA (p.Ile895=)
c.2792_2795delinsTCCA (p.Ile931=)
c.2774_2777delinsTCCA (p.Ile925=)
c.2498_2501delinsTCCA (p.Ile833=)
n.3073_3076delinsTCCA
c.2666_2669delinsTCCA (p.Ile889=)
c.2480_2483delinsTCCA (p.Ile827=)
n.3076_3079delinsTCCA
c.2771_2774delinsTCCA (p.Ile924=)
c.2837_2840delinsTCCA (p.Ile946=)
c.2789_2792delinsTCCA (p.Ile930=)
c.2654_2657delinsTCCA (p.Ile885=)
16g.28835707C>ACA494869314ATXN2Lc.2844C>A (p.Ile948=)
c.819C>A (p.Ile273=)
n.3218C>A
c.39C>A (p.Ile13=)
c.2862C>A (p.Ile954=)
c.1908C>A (n.1908C>A)
c.113C>A
c.822C>A (p.Ile274=)
c.364C>A
c.2865C>A (p.Ile955=)
c.2847C>A (p.Ile949=)
c.2685C>A (p.Ile895=)
c.2793C>A (p.Ile931=)
c.2775C>A (p.Ile925=)
c.2499C>A (p.Ile833=)
n.3074C>A
c.2667C>A (p.Ile889=)
c.2481C>A (p.Ile827=)
n.3077C>A
c.2772C>A (p.Ile924=)
c.2838C>A (p.Ile946=)
c.2790C>A (p.Ile930=)
c.2655C>A (p.Ile885=)
16g.28835707C>GCA395408467ATXN2Lc.2844C>G (p.Ile948Met)
c.819C>G (p.Ile273Met)
n.3218C>G
c.39C>G (p.Ile13Met)
c.2862C>G (p.Ile954Met)
c.1908C>G (n.1908C>G)
c.113C>G
c.822C>G (p.Ile274Met)
c.364C>G
c.2865C>G (p.Ile955Met)
c.2847C>G (p.Ile949Met)
c.2685C>G (p.Ile895Met)
c.2793C>G (p.Ile931Met)
c.2775C>G (p.Ile925Met)
c.2499C>G (p.Ile833Met)
n.3074C>G
c.2667C>G (p.Ile889Met)
c.2481C>G (p.Ile827Met)
n.3077C>G
c.2772C>G (p.Ile924Met)
c.2838C>G (p.Ile946Met)
c.2790C>G (p.Ile930Met)
c.2655C>G (p.Ile885Met)
16g.28835707C>TCA494869324ATXN2Lc.2844C>T (p.Ile948=)
c.819C>T (p.Ile273=)
n.3218C>T
c.39C>T (p.Ile13=)
c.2862C>T (p.Ile954=)
c.1908C>T (n.1908C>T)
c.113C>T
c.822C>T (p.Ile274=)
c.364C>T
c.2865C>T (p.Ile955=)
c.2847C>T (p.Ile949=)
c.2685C>T (p.Ile895=)
c.2793C>T (p.Ile931=)
c.2775C>T (p.Ile925=)
c.2499C>T (p.Ile833=)
n.3074C>T
c.2667C>T (p.Ile889=)
c.2481C>T (p.Ile827=)
n.3077C>T
c.2772C>T (p.Ile924=)
c.2838C>T (p.Ile946=)
c.2790C>T (p.Ile930=)
c.2655C>T (p.Ile885=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835713_28835715delCA7985102ATXN2Lc.2850_2852del (p.His950del)
c.825_827del (p.His275del)
n.3224_3226del
c.45_47del (p.His15del)
c.2868_2870del (p.His956del)
c.1914_1916del (n.1914_1916del)
c.119_121del
c.828_830del (p.His276del)
c.370_372del
c.2871_2873del (p.His957del)
c.2853_2855del (p.His951del)
c.2691_2693del (p.His897del)
c.2799_2801del (p.His933del)
c.2781_2783del (p.His927del)
c.2505_2507del (p.His835del)
n.3080_3082del
c.2673_2675del (p.His891del)
c.2487_2489del (p.His829del)
n.3083_3085del
c.2778_2780del (p.His926del)
c.2844_2846del (p.His948del)
c.2796_2798del (p.His932del)
c.2661_2663del (p.His887del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835708C>ACA395408470ATXN2Lc.2845C>A (p.His949Asn)
c.820C>A (p.His274Asn)
n.3219C>A
c.40C>A (p.His14Asn)
c.2863C>A (p.His955Asn)
c.1909C>A (n.1909C>A)
c.114C>A
c.823C>A (p.His275Asn)
c.365C>A
c.2866C>A (p.His956Asn)
c.2848C>A (p.His950Asn)
c.2686C>A (p.His896Asn)
c.2794C>A (p.His932Asn)
c.2776C>A (p.His926Asn)
c.2500C>A (p.His834Asn)
n.3075C>A
c.2668C>A (p.His890Asn)
c.2482C>A (p.His828Asn)
n.3078C>A
c.2773C>A (p.His925Asn)
c.2839C>A (p.His947Asn)
c.2791C>A (p.His931Asn)
c.2656C>A (p.His886Asn)
16g.28835708C>GCA395408474ATXN2Lc.2845C>G (p.His949Asp)
c.820C>G (p.His274Asp)
n.3219C>G
c.40C>G (p.His14Asp)
c.2863C>G (p.His955Asp)
c.1909C>G (n.1909C>G)
c.114C>G
c.823C>G (p.His275Asp)
c.365C>G
c.2866C>G (p.His956Asp)
c.2848C>G (p.His950Asp)
c.2686C>G (p.His896Asp)
c.2794C>G (p.His932Asp)
c.2776C>G (p.His926Asp)
c.2500C>G (p.His834Asp)
n.3075C>G
c.2668C>G (p.His890Asp)
c.2482C>G (p.His828Asp)
n.3078C>G
c.2773C>G (p.His925Asp)
c.2839C>G (p.His947Asp)
c.2791C>G (p.His931Asp)
c.2656C>G (p.His886Asp)
16g.28835708C>TCA395408476ATXN2Lc.2845C>T (p.His949Tyr)
c.820C>T (p.His274Tyr)
n.3219C>T
c.40C>T (p.His14Tyr)
c.2863C>T (p.His955Tyr)
c.1909C>T (n.1909C>T)
c.114C>T
c.823C>T (p.His275Tyr)
c.365C>T
c.2866C>T (p.His956Tyr)
c.2848C>T (p.His950Tyr)
c.2686C>T (p.His896Tyr)
c.2794C>T (p.His932Tyr)
c.2776C>T (p.His926Tyr)
c.2500C>T (p.His834Tyr)
n.3075C>T
c.2668C>T (p.His890Tyr)
c.2482C>T (p.His828Tyr)
n.3078C>T
c.2773C>T (p.His925Tyr)
c.2839C>T (p.His947Tyr)
c.2791C>T (p.His931Tyr)
c.2656C>T (p.His886Tyr)
 gnomAD v4
16g.28835709A=CA2215806449ATXN2Lc.2846A= (p.His949=)
c.821A= (p.His274=)
n.3220A=
c.41A= (p.His14=)
c.2864A= (p.His955=)
c.1910A= (n.1910A=)
c.115A=
c.824A= (p.His275=)
c.366A=
c.2867A= (p.His956=)
c.2849A= (p.His950=)
c.2687A= (p.His896=)
c.2795A= (p.His932=)
c.2777A= (p.His926=)
c.2501A= (p.His834=)
n.3076A=
c.2669A= (p.His890=)
c.2483A= (p.His828=)
n.3079A=
c.2774A= (p.His925=)
c.2840A= (p.His947=)
c.2792A= (p.His931=)
c.2657A= (p.His886=)
16g.28835709A>CCA395408478ATXN2Lc.2846A>C (p.His949Pro)
c.821A>C (p.His274Pro)
n.3220A>C
c.41A>C (p.His14Pro)
c.2864A>C (p.His955Pro)
c.1910A>C (n.1910A>C)
c.115A>C
c.824A>C (p.His275Pro)
c.366A>C
c.2867A>C (p.His956Pro)
c.2849A>C (p.His950Pro)
c.2687A>C (p.His896Pro)
c.2795A>C (p.His932Pro)
c.2777A>C (p.His926Pro)
c.2501A>C (p.His834Pro)
n.3076A>C
c.2669A>C (p.His890Pro)
c.2483A>C (p.His828Pro)
n.3079A>C
c.2774A>C (p.His925Pro)
c.2840A>C (p.His947Pro)
c.2792A>C (p.His931Pro)
c.2657A>C (p.His886Pro)
16g.28835709A>GCA395408479ATXN2Lc.2846A>G (p.His949Arg)
c.821A>G (p.His274Arg)
n.3220A>G
c.41A>G (p.His14Arg)
c.2864A>G (p.His955Arg)
c.1910A>G (n.1910A>G)
c.115A>G
c.824A>G (p.His275Arg)
c.366A>G
c.2867A>G (p.His956Arg)
c.2849A>G (p.His950Arg)
c.2687A>G (p.His896Arg)
c.2795A>G (p.His932Arg)
c.2777A>G (p.His926Arg)
c.2501A>G (p.His834Arg)
n.3076A>G
c.2669A>G (p.His890Arg)
c.2483A>G (p.His828Arg)
n.3079A>G
c.2774A>G (p.His925Arg)
c.2840A>G (p.His947Arg)
c.2792A>G (p.His931Arg)
c.2657A>G (p.His886Arg)
16g.28835709A>TCA395408481ATXN2Lc.2846A>T (p.His949Leu)
c.821A>T (p.His274Leu)
n.3220A>T
c.41A>T (p.His14Leu)
c.2864A>T (p.His955Leu)
c.1910A>T (n.1910A>T)
c.115A>T
c.824A>T (p.His275Leu)
c.366A>T
c.2867A>T (p.His956Leu)
c.2849A>T (p.His950Leu)
c.2687A>T (p.His896Leu)
c.2795A>T (p.His932Leu)
c.2777A>T (p.His926Leu)
c.2501A>T (p.His834Leu)
n.3076A>T
c.2669A>T (p.His890Leu)
c.2483A>T (p.His828Leu)
n.3079A>T
c.2774A>T (p.His925Leu)
c.2840A>T (p.His947Leu)
c.2792A>T (p.His931Leu)
c.2657A>T (p.His886Leu)
16g.28835709_28835710insTGCCA2215806451ATXN2Lc.2846_2847insTGC (p.His949_His950insAla)
c.821_822insTGC (p.His274_His275insAla)
n.3220_3221insTGC
c.41_42insTGC (p.His14_His15insAla)
c.2864_2865insTGC (p.His955_His956insAla)
c.1910_1911insTGC (n.1910_1911insTGC)
c.115_116insTGC
c.824_825insTGC (p.His275_His276insAla)
c.366_367insTGC
c.2867_2868insTGC (p.His956_His957insAla)
c.2849_2850insTGC (p.His950_His951insAla)
c.2687_2688insTGC (p.His896_His897insAla)
c.2795_2796insTGC (p.His932_His933insAla)
c.2777_2778insTGC (p.His926_His927insAla)
c.2501_2502insTGC (p.His834_His835insAla)
n.3076_3077insTGC
c.2669_2670insTGC (p.His890_His891insAla)
c.2483_2484insTGC (p.His828_His829insAla)
n.3079_3080insTGC
c.2774_2775insTGC (p.His925_His926insAla)
c.2840_2841insTGC (p.His947_His948insAla)
c.2792_2793insTGC (p.His931_His932insAla)
c.2657_2658insTGC (p.His886_His887insAla)
 dbSNP
16g.28835710C>ACA395408483ATXN2Lc.2847C>A (p.His949Gln)
c.822C>A (p.His274Gln)
n.3221C>A
c.42C>A (p.His14Gln)
c.2865C>A (p.His955Gln)
c.1911C>A (n.1911C>A)
c.116C>A
c.825C>A (p.His275Gln)
c.367C>A
c.2868C>A (p.His956Gln)
c.2850C>A (p.His950Gln)
c.2688C>A (p.His896Gln)
c.2796C>A (p.His932Gln)
c.2778C>A (p.His926Gln)
c.2502C>A (p.His834Gln)
n.3077C>A
c.2670C>A (p.His890Gln)
c.2484C>A (p.His828Gln)
n.3080C>A
c.2775C>A (p.His925Gln)
c.2841C>A (p.His947Gln)
c.2793C>A (p.His931Gln)
c.2658C>A (p.His886Gln)
16g.28835710C>GCA395408485ATXN2Lc.2847C>G (p.His949Gln)
c.822C>G (p.His274Gln)
n.3221C>G
c.42C>G (p.His14Gln)
c.2865C>G (p.His955Gln)
c.1911C>G (n.1911C>G)
c.116C>G
c.825C>G (p.His275Gln)
c.367C>G
c.2868C>G (p.His956Gln)
c.2850C>G (p.His950Gln)
c.2688C>G (p.His896Gln)
c.2796C>G (p.His932Gln)
c.2778C>G (p.His926Gln)
c.2502C>G (p.His834Gln)
n.3077C>G
c.2670C>G (p.His890Gln)
c.2484C>G (p.His828Gln)
n.3080C>G
c.2775C>G (p.His925Gln)
c.2841C>G (p.His947Gln)
c.2793C>G (p.His931Gln)
c.2658C>G (p.His886Gln)
16g.28835710C>TCA494869340ATXN2Lc.2847C>T (p.His949=)
c.822C>T (p.His274=)
n.3221C>T
c.42C>T (p.His14=)
c.2865C>T (p.His955=)
c.1911C>T (n.1911C>T)
c.116C>T
c.825C>T (p.His275=)
c.367C>T
c.2868C>T (p.His956=)
c.2850C>T (p.His950=)
c.2688C>T (p.His896=)
c.2796C>T (p.His932=)
c.2778C>T (p.His926=)
c.2502C>T (p.His834=)
n.3077C>T
c.2670C>T (p.His890=)
c.2484C>T (p.His828=)
n.3080C>T
c.2775C>T (p.His925=)
c.2841C>T (p.His947=)
c.2793C>T (p.His931=)
c.2658C>T (p.His886=)
16g.28835711C>ACA395408490ATXN2Lc.2848C>A (p.His950Asn)
c.823C>A (p.His275Asn)
n.3222C>A
c.43C>A (p.His15Asn)
c.2866C>A (p.His956Asn)
c.1912C>A (n.1912C>A)
c.117C>A
c.826C>A (p.His276Asn)
c.368C>A
c.2869C>A (p.His957Asn)
c.2851C>A (p.His951Asn)
c.2689C>A (p.His897Asn)
c.2797C>A (p.His933Asn)
c.2779C>A (p.His927Asn)
c.2503C>A (p.His835Asn)
n.3078C>A
c.2671C>A (p.His891Asn)
c.2485C>A (p.His829Asn)
n.3081C>A
c.2776C>A (p.His926Asn)
c.2842C>A (p.His948Asn)
c.2794C>A (p.His932Asn)
c.2659C>A (p.His887Asn)
16g.28835711C>GCA395408489ATXN2Lc.2848C>G (p.His950Asp)
c.823C>G (p.His275Asp)
n.3222C>G
c.43C>G (p.His15Asp)
c.2866C>G (p.His956Asp)
c.1912C>G (n.1912C>G)
c.117C>G
c.826C>G (p.His276Asp)
c.368C>G
c.2869C>G (p.His957Asp)
c.2851C>G (p.His951Asp)
c.2689C>G (p.His897Asp)
c.2797C>G (p.His933Asp)
c.2779C>G (p.His927Asp)
c.2503C>G (p.His835Asp)
n.3078C>G
c.2671C>G (p.His891Asp)
c.2485C>G (p.His829Asp)
n.3081C>G
c.2776C>G (p.His926Asp)
c.2842C>G (p.His948Asp)
c.2794C>G (p.His932Asp)
c.2659C>G (p.His887Asp)
16g.28835711C>TCA395408487ATXN2Lc.2848C>T (p.His950Tyr)
c.823C>T (p.His275Tyr)
n.3222C>T
c.43C>T (p.His15Tyr)
c.2866C>T (p.His956Tyr)
c.1912C>T (n.1912C>T)
c.117C>T
c.826C>T (p.His276Tyr)
c.368C>T
c.2869C>T (p.His957Tyr)
c.2851C>T (p.His951Tyr)
c.2689C>T (p.His897Tyr)
c.2797C>T (p.His933Tyr)
c.2779C>T (p.His927Tyr)
c.2503C>T (p.His835Tyr)
n.3078C>T
c.2671C>T (p.His891Tyr)
c.2485C>T (p.His829Tyr)
n.3081C>T
c.2776C>T (p.His926Tyr)
c.2842C>T (p.His948Tyr)
c.2794C>T (p.His932Tyr)
c.2659C>T (p.His887Tyr)
 gnomAD v4
16g.28835712A>CCA395408493ATXN2Lc.2849A>C (p.His950Pro)
c.824A>C (p.His275Pro)
n.3223A>C
c.44A>C (p.His15Pro)
c.2867A>C (p.His956Pro)
c.1913A>C (n.1913A>C)
c.118A>C
c.827A>C (p.His276Pro)
c.369A>C
c.2870A>C (p.His957Pro)
c.2852A>C (p.His951Pro)
c.2690A>C (p.His897Pro)
c.2798A>C (p.His933Pro)
c.2780A>C (p.His927Pro)
c.2504A>C (p.His835Pro)
n.3079A>C
c.2672A>C (p.His891Pro)
c.2486A>C (p.His829Pro)
n.3082A>C
c.2777A>C (p.His926Pro)
c.2843A>C (p.His948Pro)
c.2795A>C (p.His932Pro)
c.2660A>C (p.His887Pro)
16g.28835712A>GCA395408494ATXN2Lc.2849A>G (p.His950Arg)
c.824A>G (p.His275Arg)
n.3223A>G
c.44A>G (p.His15Arg)
c.2867A>G (p.His956Arg)
c.1913A>G (n.1913A>G)
c.118A>G
c.827A>G (p.His276Arg)
c.369A>G
c.2870A>G (p.His957Arg)
c.2852A>G (p.His951Arg)
c.2690A>G (p.His897Arg)
c.2798A>G (p.His933Arg)
c.2780A>G (p.His927Arg)
c.2504A>G (p.His835Arg)
n.3079A>G
c.2672A>G (p.His891Arg)
c.2486A>G (p.His829Arg)
n.3082A>G
c.2777A>G (p.His926Arg)
c.2843A>G (p.His948Arg)
c.2795A>G (p.His932Arg)
c.2660A>G (p.His887Arg)
16g.28835712A>TCA395408496ATXN2Lc.2849A>T (p.His950Leu)
c.824A>T (p.His275Leu)
n.3223A>T
c.44A>T (p.His15Leu)
c.2867A>T (p.His956Leu)
c.1913A>T (n.1913A>T)
c.118A>T
c.827A>T (p.His276Leu)
c.369A>T
c.2870A>T (p.His957Leu)
c.2852A>T (p.His951Leu)
c.2690A>T (p.His897Leu)
c.2798A>T (p.His933Leu)
c.2780A>T (p.His927Leu)
c.2504A>T (p.His835Leu)
n.3079A>T
c.2672A>T (p.His891Leu)
c.2486A>T (p.His829Leu)
n.3082A>T
c.2777A>T (p.His926Leu)
c.2843A>T (p.His948Leu)
c.2795A>T (p.His932Leu)
c.2660A>T (p.His887Leu)
16g.28835713C>ACA395408498ATXN2Lc.2850C>A (p.His950Gln)
c.825C>A (p.His275Gln)
n.3224C>A
c.45C>A (p.His15Gln)
c.2868C>A (p.His956Gln)
c.1914C>A (n.1914C>A)
c.119C>A
c.828C>A (p.His276Gln)
c.370C>A
c.2871C>A (p.His957Gln)
c.2853C>A (p.His951Gln)
c.2691C>A (p.His897Gln)
c.2799C>A (p.His933Gln)
c.2781C>A (p.His927Gln)
c.2505C>A (p.His835Gln)
n.3080C>A
c.2673C>A (p.His891Gln)
c.2487C>A (p.His829Gln)
n.3083C>A
c.2778C>A (p.His926Gln)
c.2844C>A (p.His948Gln)
c.2796C>A (p.His932Gln)
c.2661C>A (p.His887Gln)
16g.28835713C=CA2215806454ATXN2Lc.2850C= (p.His950=)
c.825C= (p.His275=)
n.3224C=
c.45C= (p.His15=)
c.2868C= (p.His956=)
c.1914C= (n.1914C=)
c.119C=
c.828C= (p.His276=)
c.370C=
c.2871C= (p.His957=)
c.2853C= (p.His951=)
c.2691C= (p.His897=)
c.2799C= (p.His933=)
c.2781C= (p.His927=)
c.2505C= (p.His835=)
n.3080C=
c.2673C= (p.His891=)
c.2487C= (p.His829=)
n.3083C=
c.2778C= (p.His926=)
c.2844C= (p.His948=)
c.2796C= (p.His932=)
c.2661C= (p.His887=)
16g.28835713C>GCA7985103ATXN2Lc.2850C>G (p.His950Gln)
c.825C>G (p.His275Gln)
n.3224C>G
c.45C>G (p.His15Gln)
c.2868C>G (p.His956Gln)
c.1914C>G (n.1914C>G)
c.119C>G
c.828C>G (p.His276Gln)
c.370C>G
c.2871C>G (p.His957Gln)
c.2853C>G (p.His951Gln)
c.2691C>G (p.His897Gln)
c.2799C>G (p.His933Gln)
c.2781C>G (p.His927Gln)
c.2505C>G (p.His835Gln)
n.3080C>G
c.2673C>G (p.His891Gln)
c.2487C>G (p.His829Gln)
n.3083C>G
c.2778C>G (p.His926Gln)
c.2844C>G (p.His948Gln)
c.2796C>G (p.His932Gln)
c.2661C>G (p.His887Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835713C>TCA494869348ATXN2Lc.2850C>T (p.His950=)
c.825C>T (p.His275=)
n.3224C>T
c.45C>T (p.His15=)
c.2868C>T (p.His956=)
c.1914C>T (n.1914C>T)
c.119C>T
c.828C>T (p.His276=)
c.370C>T
c.2871C>T (p.His957=)
c.2853C>T (p.His951=)
c.2691C>T (p.His897=)
c.2799C>T (p.His933=)
c.2781C>T (p.His927=)
c.2505C>T (p.His835=)
n.3080C>T
c.2673C>T (p.His891=)
c.2487C>T (p.His829=)
n.3083C>T
c.2778C>T (p.His926=)
c.2844C>T (p.His948=)
c.2796C>T (p.His932=)
c.2661C>T (p.His887=)
 dbSNP gnomAD v3 gnomAD v4
16g.28835714C>ACA395408501ATXN2Lc.2851C>A (p.Gln951Lys)
c.826C>A (p.Gln276Lys)
n.3225C>A
c.46C>A (p.Gln16Lys)
c.2869C>A (p.Gln957Lys)
c.1915C>A (n.1915C>A)
c.120C>A
c.829C>A (p.Gln277Lys)
c.371C>A
c.2872C>A (p.Gln958Lys)
c.2854C>A (p.Gln952Lys)
c.2692C>A (p.Gln898Lys)
c.2800C>A (p.Gln934Lys)
c.2782C>A (p.Gln928Lys)
c.2506C>A (p.Gln836Lys)
n.3081C>A
c.2674C>A (p.Gln892Lys)
c.2488C>A (p.Gln830Lys)
n.3084C>A
c.2779C>A (p.Gln927Lys)
c.2845C>A (p.Gln949Lys)
c.2797C>A (p.Gln933Lys)
c.2662C>A (p.Gln888Lys)
16g.28835714C>GCA395408503ATXN2Lc.2851C>G (p.Gln951Glu)
c.826C>G (p.Gln276Glu)
n.3225C>G
c.46C>G (p.Gln16Glu)
c.2869C>G (p.Gln957Glu)
c.1915C>G (n.1915C>G)
c.120C>G
c.829C>G (p.Gln277Glu)
c.371C>G
c.2872C>G (p.Gln958Glu)
c.2854C>G (p.Gln952Glu)
c.2692C>G (p.Gln898Glu)
c.2800C>G (p.Gln934Glu)
c.2782C>G (p.Gln928Glu)
c.2506C>G (p.Gln836Glu)
n.3081C>G
c.2674C>G (p.Gln892Glu)
c.2488C>G (p.Gln830Glu)
n.3084C>G
c.2779C>G (p.Gln927Glu)
c.2845C>G (p.Gln949Glu)
c.2797C>G (p.Gln933Glu)
c.2662C>G (p.Gln888Glu)
16g.28835714C>TCA395408505ATXN2Lc.2851C>T (p.Gln951Ter)
c.826C>T (p.Gln276Ter)
n.3225C>T
c.46C>T (p.Gln16Ter)
c.2869C>T (p.Gln957Ter)
c.1915C>T (n.1915C>T)
c.120C>T
c.829C>T (p.Gln277Ter)
c.371C>T
c.2872C>T (p.Gln958Ter)
c.2854C>T (p.Gln952Ter)
c.2692C>T (p.Gln898Ter)
c.2800C>T (p.Gln934Ter)
c.2782C>T (p.Gln928Ter)
c.2506C>T (p.Gln836Ter)
n.3081C>T
c.2674C>T (p.Gln892Ter)
c.2488C>T (p.Gln830Ter)
n.3084C>T
c.2779C>T (p.Gln927Ter)
c.2845C>T (p.Gln949Ter)
c.2797C>T (p.Gln933Ter)
c.2662C>T (p.Gln888Ter)
16g.28835715A>CCA395408506ATXN2Lc.2852A>C (p.Gln951Pro)
c.827A>C (p.Gln276Pro)
n.3226A>C
c.47A>C (p.Gln16Pro)
c.2870A>C (p.Gln957Pro)
c.1916A>C (n.1916A>C)
c.121A>C
c.830A>C (p.Gln277Pro)
c.372A>C
c.2873A>C (p.Gln958Pro)
c.2855A>C (p.Gln952Pro)
c.2693A>C (p.Gln898Pro)
c.2801A>C (p.Gln934Pro)
c.2783A>C (p.Gln928Pro)
c.2507A>C (p.Gln836Pro)
n.3082A>C
c.2675A>C (p.Gln892Pro)
c.2489A>C (p.Gln830Pro)
n.3085A>C
c.2780A>C (p.Gln927Pro)
c.2846A>C (p.Gln949Pro)
c.2798A>C (p.Gln933Pro)
c.2663A>C (p.Gln888Pro)
16g.28835715A>GCA395408507ATXN2Lc.2852A>G (p.Gln951Arg)
c.827A>G (p.Gln276Arg)
n.3226A>G
c.47A>G (p.Gln16Arg)
c.2870A>G (p.Gln957Arg)
c.1916A>G (n.1916A>G)
c.121A>G
c.830A>G (p.Gln277Arg)
c.372A>G
c.2873A>G (p.Gln958Arg)
c.2855A>G (p.Gln952Arg)
c.2693A>G (p.Gln898Arg)
c.2801A>G (p.Gln934Arg)
c.2783A>G (p.Gln928Arg)
c.2507A>G (p.Gln836Arg)
n.3082A>G
c.2675A>G (p.Gln892Arg)
c.2489A>G (p.Gln830Arg)
n.3085A>G
c.2780A>G (p.Gln927Arg)
c.2846A>G (p.Gln949Arg)
c.2798A>G (p.Gln933Arg)
c.2663A>G (p.Gln888Arg)
16g.28835715A>TCA395408509ATXN2Lc.2852A>T (p.Gln951Leu)
c.827A>T (p.Gln276Leu)
n.3226A>T
c.47A>T (p.Gln16Leu)
c.2870A>T (p.Gln957Leu)
c.1916A>T (n.1916A>T)
c.121A>T
c.830A>T (p.Gln277Leu)
c.372A>T
c.2873A>T (p.Gln958Leu)
c.2855A>T (p.Gln952Leu)
c.2693A>T (p.Gln898Leu)
c.2801A>T (p.Gln934Leu)
c.2783A>T (p.Gln928Leu)
c.2507A>T (p.Gln836Leu)
n.3082A>T
c.2675A>T (p.Gln892Leu)
c.2489A>T (p.Gln830Leu)
n.3085A>T
c.2780A>T (p.Gln927Leu)
c.2846A>T (p.Gln949Leu)
c.2798A>T (p.Gln933Leu)
c.2663A>T (p.Gln888Leu)
16g.28835716G>ACA494869355ATXN2Lc.2853G>A (p.Gln951=)
c.828G>A (p.Gln276=)
n.3227G>A
c.48G>A (p.Gln16=)
c.2871G>A (p.Gln957=)
c.1917G>A (n.1917G>A)
c.122G>A
c.831G>A (p.Gln277=)
c.373G>A
c.2874G>A (p.Gln958=)
c.2856G>A (p.Gln952=)
c.2694G>A (p.Gln898=)
c.2802G>A (p.Gln934=)
c.2784G>A (p.Gln928=)
c.2508G>A (p.Gln836=)
n.3083G>A
c.2676G>A (p.Gln892=)
c.2490G>A (p.Gln830=)
n.3086G>A
c.2781G>A (p.Gln927=)
c.2847G>A (p.Gln949=)
c.2799G>A (p.Gln933=)
c.2664G>A (p.Gln888=)
16g.28835716G>CCA395408513ATXN2Lc.2853G>C (p.Gln951His)
c.828G>C (p.Gln276His)
n.3227G>C
c.48G>C (p.Gln16His)
c.2871G>C (p.Gln957His)
c.1917G>C (n.1917G>C)
c.122G>C
c.831G>C (p.Gln277His)
c.373G>C
c.2874G>C (p.Gln958His)
c.2856G>C (p.Gln952His)
c.2694G>C (p.Gln898His)
c.2802G>C (p.Gln934His)
c.2784G>C (p.Gln928His)
c.2508G>C (p.Gln836His)
n.3083G>C
c.2676G>C (p.Gln892His)
c.2490G>C (p.Gln830His)
n.3086G>C
c.2781G>C (p.Gln927His)
c.2847G>C (p.Gln949His)
c.2799G>C (p.Gln933His)
c.2664G>C (p.Gln888His)
16g.28835716G>TCA395408511ATXN2Lc.2853G>T (p.Gln951His)
c.828G>T (p.Gln276His)
n.3227G>T
c.48G>T (p.Gln16His)
c.2871G>T (p.Gln957His)
c.1917G>T (n.1917G>T)
c.122G>T
c.831G>T (p.Gln277His)
c.373G>T
c.2874G>T (p.Gln958His)
c.2856G>T (p.Gln952His)
c.2694G>T (p.Gln898His)
c.2802G>T (p.Gln934His)
c.2784G>T (p.Gln928His)
c.2508G>T (p.Gln836His)
n.3083G>T
c.2676G>T (p.Gln892His)
c.2490G>T (p.Gln830His)
n.3086G>T
c.2781G>T (p.Gln927His)
c.2847G>T (p.Gln949His)
c.2799G>T (p.Gln933His)
c.2664G>T (p.Gln888His)
16g.28835717C>ACA395408514ATXN2Lc.2854C>A (p.Gln952Lys)
c.829C>A (p.Gln277Lys)
n.3228C>A
c.49C>A (p.Gln17Lys)
c.2872C>A (p.Gln958Lys)
c.1918C>A (n.1918C>A)
c.123C>A
c.832C>A (p.Gln278Lys)
c.374C>A
c.2875C>A (p.Gln959Lys)
c.2857C>A (p.Gln953Lys)
c.2695C>A (p.Gln899Lys)
c.2803C>A (p.Gln935Lys)
c.2785C>A (p.Gln929Lys)
c.2509C>A (p.Gln837Lys)
n.3084C>A
c.2677C>A (p.Gln893Lys)
c.2491C>A (p.Gln831Lys)
n.3087C>A
c.2782C>A (p.Gln928Lys)
c.2848C>A (p.Gln950Lys)
c.2800C>A (p.Gln934Lys)
c.2665C>A (p.Gln889Lys)
16g.28835717C>GCA395408515ATXN2Lc.2854C>G (p.Gln952Glu)
c.829C>G (p.Gln277Glu)
n.3228C>G
c.49C>G (p.Gln17Glu)
c.2872C>G (p.Gln958Glu)
c.1918C>G (n.1918C>G)
c.123C>G
c.832C>G (p.Gln278Glu)
c.374C>G
c.2875C>G (p.Gln959Glu)
c.2857C>G (p.Gln953Glu)
c.2695C>G (p.Gln899Glu)
c.2803C>G (p.Gln935Glu)
c.2785C>G (p.Gln929Glu)
c.2509C>G (p.Gln837Glu)
n.3084C>G
c.2677C>G (p.Gln893Glu)
c.2491C>G (p.Gln831Glu)
n.3087C>G
c.2782C>G (p.Gln928Glu)
c.2848C>G (p.Gln950Glu)
c.2800C>G (p.Gln934Glu)
c.2665C>G (p.Gln889Glu)
16g.28835717C>TCA395408517ATXN2Lc.2854C>T (p.Gln952Ter)
c.829C>T (p.Gln277Ter)
n.3228C>T
c.49C>T (p.Gln17Ter)
c.2872C>T (p.Gln958Ter)
c.1918C>T (n.1918C>T)
c.123C>T
c.832C>T (p.Gln278Ter)
c.374C>T
c.2875C>T (p.Gln959Ter)
c.2857C>T (p.Gln953Ter)
c.2695C>T (p.Gln899Ter)
c.2803C>T (p.Gln935Ter)
c.2785C>T (p.Gln929Ter)
c.2509C>T (p.Gln837Ter)
n.3084C>T
c.2677C>T (p.Gln893Ter)
c.2491C>T (p.Gln831Ter)
n.3087C>T
c.2782C>T (p.Gln928Ter)
c.2848C>T (p.Gln950Ter)
c.2800C>T (p.Gln934Ter)
c.2665C>T (p.Gln889Ter)
16g.28835718A>CCA395408519ATXN2Lc.2855A>C (p.Gln952Pro)
c.830A>C (p.Gln277Pro)
n.3229A>C
c.50A>C (p.Gln17Pro)
c.2873A>C (p.Gln958Pro)
c.1919A>C (n.1919A>C)
c.124A>C
c.833A>C (p.Gln278Pro)
c.375A>C
c.2876A>C (p.Gln959Pro)
c.2858A>C (p.Gln953Pro)
c.2696A>C (p.Gln899Pro)
c.2804A>C (p.Gln935Pro)
c.2786A>C (p.Gln929Pro)
c.2510A>C (p.Gln837Pro)
n.3085A>C
c.2678A>C (p.Gln893Pro)
c.2492A>C (p.Gln831Pro)
n.3088A>C
c.2783A>C (p.Gln928Pro)
c.2849A>C (p.Gln950Pro)
c.2801A>C (p.Gln934Pro)
c.2666A>C (p.Gln889Pro)
16g.28835718A>GCA395408521ATXN2Lc.2855A>G (p.Gln952Arg)
c.830A>G (p.Gln277Arg)
n.3229A>G
c.50A>G (p.Gln17Arg)
c.2873A>G (p.Gln958Arg)
c.1919A>G (n.1919A>G)
c.124A>G
c.833A>G (p.Gln278Arg)
c.375A>G
c.2876A>G (p.Gln959Arg)
c.2858A>G (p.Gln953Arg)
c.2696A>G (p.Gln899Arg)
c.2804A>G (p.Gln935Arg)
c.2786A>G (p.Gln929Arg)
c.2510A>G (p.Gln837Arg)
n.3085A>G
c.2678A>G (p.Gln893Arg)
c.2492A>G (p.Gln831Arg)
n.3088A>G
c.2783A>G (p.Gln928Arg)
c.2849A>G (p.Gln950Arg)
c.2801A>G (p.Gln934Arg)
c.2666A>G (p.Gln889Arg)
16g.28835718A>TCA395408522ATXN2Lc.2855A>T (p.Gln952Leu)
c.830A>T (p.Gln277Leu)
n.3229A>T
c.50A>T (p.Gln17Leu)
c.2873A>T (p.Gln958Leu)
c.1919A>T (n.1919A>T)
c.124A>T
c.833A>T (p.Gln278Leu)
c.375A>T
c.2876A>T (p.Gln959Leu)
c.2858A>T (p.Gln953Leu)
c.2696A>T (p.Gln899Leu)
c.2804A>T (p.Gln935Leu)
c.2786A>T (p.Gln929Leu)
c.2510A>T (p.Gln837Leu)
n.3085A>T
c.2678A>T (p.Gln893Leu)
c.2492A>T (p.Gln831Leu)
n.3088A>T
c.2783A>T (p.Gln928Leu)
c.2849A>T (p.Gln950Leu)
c.2801A>T (p.Gln934Leu)
c.2666A>T (p.Gln889Leu)
16g.28835719G>ACA494869373ATXN2Lc.2856G>A (p.Gln952=)
c.831G>A (p.Gln277=)
n.3230G>A
c.51G>A (p.Gln17=)
c.2874G>A (p.Gln958=)
c.1920G>A (n.1920G>A)
c.125G>A
c.834G>A (p.Gln278=)
c.376G>A
c.2877G>A (p.Gln959=)
c.2859G>A (p.Gln953=)
c.2697G>A (p.Gln899=)
c.2805G>A (p.Gln935=)
c.2787G>A (p.Gln929=)
c.2511G>A (p.Gln837=)
n.3086G>A
c.2679G>A (p.Gln893=)
c.2493G>A (p.Gln831=)
n.3089G>A
c.2784G>A (p.Gln928=)
c.2850G>A (p.Gln950=)
c.2802G>A (p.Gln934=)
c.2667G>A (p.Gln889=)
 dbSNP gnomAD v2
16g.28835719G>CCA395408524ATXN2Lc.2856G>C (p.Gln952His)
c.831G>C (p.Gln277His)
n.3230G>C
c.51G>C (p.Gln17His)
c.2874G>C (p.Gln958His)
c.1920G>C (n.1920G>C)
c.125G>C
c.834G>C (p.Gln278His)
c.376G>C
c.2877G>C (p.Gln959His)
c.2859G>C (p.Gln953His)
c.2697G>C (p.Gln899His)
c.2805G>C (p.Gln935His)
c.2787G>C (p.Gln929His)
c.2511G>C (p.Gln837His)
n.3086G>C
c.2679G>C (p.Gln893His)
c.2493G>C (p.Gln831His)
n.3089G>C
c.2784G>C (p.Gln928His)
c.2850G>C (p.Gln950His)
c.2802G>C (p.Gln934His)
c.2667G>C (p.Gln889His)
 dbSNP gnomAD v2 gnomAD v4
16g.28835719G=CA2215806460ATXN2Lc.2856G= (p.Gln952=)
c.831G= (p.Gln277=)
n.3230G=
c.51G= (p.Gln17=)
c.2874G= (p.Gln958=)
c.1920G= (n.1920G=)
c.125G=
c.834G= (p.Gln278=)
c.376G=
c.2877G= (p.Gln959=)
c.2859G= (p.Gln953=)
c.2697G= (p.Gln899=)
c.2805G= (p.Gln935=)
c.2787G= (p.Gln929=)
c.2511G= (p.Gln837=)
n.3086G=
c.2679G= (p.Gln893=)
c.2493G= (p.Gln831=)
n.3089G=
c.2784G= (p.Gln928=)
c.2850G= (p.Gln950=)
c.2802G= (p.Gln934=)
c.2667G= (p.Gln889=)
16g.28835719G>TCA395408526ATXN2Lc.2856G>T (p.Gln952His)
c.831G>T (p.Gln277His)
n.3230G>T
c.51G>T (p.Gln17His)
c.2874G>T (p.Gln958His)
c.1920G>T (n.1920G>T)
c.125G>T
c.834G>T (p.Gln278His)
c.376G>T
c.2877G>T (p.Gln959His)
c.2859G>T (p.Gln953His)
c.2697G>T (p.Gln899His)
c.2805G>T (p.Gln935His)
c.2787G>T (p.Gln929His)
c.2511G>T (p.Gln837His)
n.3086G>T
c.2679G>T (p.Gln893His)
c.2493G>T (p.Gln831His)
n.3089G>T
c.2784G>T (p.Gln928His)
c.2850G>T (p.Gln950His)
c.2802G>T (p.Gln934His)
c.2667G>T (p.Gln889His)
 gnomAD v4
16g.28835720C>ACA395408527ATXN2Lc.2857C>A (p.Leu953Met)
c.832C>A (p.Leu278Met)
n.3231C>A
c.52C>A (p.Leu18Met)
c.2875C>A (p.Leu959Met)
c.1921C>A (n.1921C>A)
c.126C>A
c.835C>A (p.Leu279Met)
c.377C>A
c.2878C>A (p.Leu960Met)
c.2860C>A (p.Leu954Met)
c.2698C>A (p.Leu900Met)
c.2806C>A (p.Leu936Met)
c.2788C>A (p.Leu930Met)
c.2512C>A (p.Leu838Met)
n.3087C>A
c.2680C>A (p.Leu894Met)
c.2494C>A (p.Leu832Met)
n.3090C>A
c.2785C>A (p.Leu929Met)
c.2851C>A (p.Leu951Met)
c.2803C>A (p.Leu935Met)
c.2668C>A (p.Leu890Met)
16g.28835720C>GCA395408529ATXN2Lc.2857C>G (p.Leu953Val)
c.832C>G (p.Leu278Val)
n.3231C>G
c.52C>G (p.Leu18Val)
c.2875C>G (p.Leu959Val)
c.1921C>G (n.1921C>G)
c.126C>G
c.835C>G (p.Leu279Val)
c.377C>G
c.2878C>G (p.Leu960Val)
c.2860C>G (p.Leu954Val)
c.2698C>G (p.Leu900Val)
c.2806C>G (p.Leu936Val)
c.2788C>G (p.Leu930Val)
c.2512C>G (p.Leu838Val)
n.3087C>G
c.2680C>G (p.Leu894Val)
c.2494C>G (p.Leu832Val)
n.3090C>G
c.2785C>G (p.Leu929Val)
c.2851C>G (p.Leu951Val)
c.2803C>G (p.Leu935Val)
c.2668C>G (p.Leu890Val)
16g.28835720C>TCA494869378ATXN2Lc.2857C>T (p.Leu953=)
c.832C>T (p.Leu278=)
n.3231C>T
c.52C>T (p.Leu18=)
c.2875C>T (p.Leu959=)
c.1921C>T (n.1921C>T)
c.126C>T
c.835C>T (p.Leu279=)
c.377C>T
c.2878C>T (p.Leu960=)
c.2860C>T (p.Leu954=)
c.2698C>T (p.Leu900=)
c.2806C>T (p.Leu936=)
c.2788C>T (p.Leu930=)
c.2512C>T (p.Leu838=)
n.3087C>T
c.2680C>T (p.Leu894=)
c.2494C>T (p.Leu832=)
n.3090C>T
c.2785C>T (p.Leu929=)
c.2851C>T (p.Leu951=)
c.2803C>T (p.Leu935=)
c.2668C>T (p.Leu890=)
16g.28835721T>ACA395408531ATXN2Lc.2858T>A (p.Leu953Gln)
c.833T>A (p.Leu278Gln)
n.3232T>A
c.53T>A (p.Leu18Gln)
c.2876T>A (p.Leu959Gln)
c.1922T>A (n.1922T>A)
c.127T>A
c.836T>A (p.Leu279Gln)
c.378T>A
c.2879T>A (p.Leu960Gln)
c.2861T>A (p.Leu954Gln)
c.2699T>A (p.Leu900Gln)
c.2807T>A (p.Leu936Gln)
c.2789T>A (p.Leu930Gln)
c.2513T>A (p.Leu838Gln)
n.3088T>A
c.2681T>A (p.Leu894Gln)
c.2495T>A (p.Leu832Gln)
n.3091T>A
c.2786T>A (p.Leu929Gln)
c.2852T>A (p.Leu951Gln)
c.2804T>A (p.Leu935Gln)
c.2669T>A (p.Leu890Gln)
16g.28835721T>CCA395408533ATXN2Lc.2858T>C (p.Leu953Pro)
c.833T>C (p.Leu278Pro)
n.3232T>C
c.53T>C (p.Leu18Pro)
c.2876T>C (p.Leu959Pro)
c.1922T>C (n.1922T>C)
c.127T>C
c.836T>C (p.Leu279Pro)
c.378T>C
c.2879T>C (p.Leu960Pro)
c.2861T>C (p.Leu954Pro)
c.2699T>C (p.Leu900Pro)
c.2807T>C (p.Leu936Pro)
c.2789T>C (p.Leu930Pro)
c.2513T>C (p.Leu838Pro)
n.3088T>C
c.2681T>C (p.Leu894Pro)
c.2495T>C (p.Leu832Pro)
n.3091T>C
c.2786T>C (p.Leu929Pro)
c.2852T>C (p.Leu951Pro)
c.2804T>C (p.Leu935Pro)
c.2669T>C (p.Leu890Pro)
16g.28835721T>GCA395408535ATXN2Lc.2858T>G (p.Leu953Arg)
c.833T>G (p.Leu278Arg)
n.3232T>G
c.53T>G (p.Leu18Arg)
c.2876T>G (p.Leu959Arg)
c.1922T>G (n.1922T>G)
c.127T>G
c.836T>G (p.Leu279Arg)
c.378T>G
c.2879T>G (p.Leu960Arg)
c.2861T>G (p.Leu954Arg)
c.2699T>G (p.Leu900Arg)
c.2807T>G (p.Leu936Arg)
c.2789T>G (p.Leu930Arg)
c.2513T>G (p.Leu838Arg)
n.3088T>G
c.2681T>G (p.Leu894Arg)
c.2495T>G (p.Leu832Arg)
n.3091T>G
c.2786T>G (p.Leu929Arg)
c.2852T>G (p.Leu951Arg)
c.2804T>G (p.Leu935Arg)
c.2669T>G (p.Leu890Arg)
16g.28835722G>ACA494869390ATXN2Lc.2859G>A (p.Leu953=)
c.834G>A (p.Leu278=)
n.3233G>A
c.54G>A (p.Leu18=)
c.2877G>A (p.Leu959=)
c.1923G>A (n.1923G>A)
c.128G>A
c.837G>A (p.Leu279=)
c.379G>A
c.2880G>A (p.Leu960=)
c.2862G>A (p.Leu954=)
c.2700G>A (p.Leu900=)
c.2808G>A (p.Leu936=)
c.2790G>A (p.Leu930=)
c.2514G>A (p.Leu838=)
n.3089G>A
c.2682G>A (p.Leu894=)
c.2496G>A (p.Leu832=)
n.3092G>A
c.2787G>A (p.Leu929=)
c.2853G>A (p.Leu951=)
c.2805G>A (p.Leu935=)
c.2670G>A (p.Leu890=)
16g.28835722G>CCA494869392ATXN2Lc.2859G>C (p.Leu953=)
c.834G>C (p.Leu278=)
n.3233G>C
c.54G>C (p.Leu18=)
c.2877G>C (p.Leu959=)
c.1923G>C (n.1923G>C)
c.128G>C
c.837G>C (p.Leu279=)
c.379G>C
c.2880G>C (p.Leu960=)
c.2862G>C (p.Leu954=)
c.2700G>C (p.Leu900=)
c.2808G>C (p.Leu936=)
c.2790G>C (p.Leu930=)
c.2514G>C (p.Leu838=)
n.3089G>C
c.2682G>C (p.Leu894=)
c.2496G>C (p.Leu832=)
n.3092G>C
c.2787G>C (p.Leu929=)
c.2853G>C (p.Leu951=)
c.2805G>C (p.Leu935=)
c.2670G>C (p.Leu890=)
16g.28835722G>TCA494869396ATXN2Lc.2859G>T (p.Leu953=)
c.834G>T (p.Leu278=)
n.3233G>T
c.54G>T (p.Leu18=)
c.2877G>T (p.Leu959=)
c.1923G>T (n.1923G>T)
c.128G>T
c.837G>T (p.Leu279=)
c.379G>T
c.2880G>T (p.Leu960=)
c.2862G>T (p.Leu954=)
c.2700G>T (p.Leu900=)
c.2808G>T (p.Leu936=)
c.2790G>T (p.Leu930=)
c.2514G>T (p.Leu838=)
n.3089G>T
c.2682G>T (p.Leu894=)
c.2496G>T (p.Leu832=)
n.3092G>T
c.2787G>T (p.Leu929=)
c.2853G>T (p.Leu951=)
c.2805G>T (p.Leu935=)
c.2670G>T (p.Leu890=)
16g.28835723C>ACA395408540ATXN2Lc.2860C>A (p.Pro954Thr)
c.835C>A (p.Pro279Thr)
n.3234C>A
c.55C>A (p.Pro19Thr)
c.2878C>A (p.Pro960Thr)
c.1924C>A (n.1924C>A)
c.129C>A
c.838C>A (p.Pro280Thr)
c.380C>A
c.2881C>A (p.Pro961Thr)
c.2863C>A (p.Pro955Thr)
c.2701C>A (p.Pro901Thr)
c.2809C>A (p.Pro937Thr)
c.2791C>A (p.Pro931Thr)
c.2515C>A (p.Pro839Thr)
n.3090C>A
c.2683C>A (p.Pro895Thr)
c.2497C>A (p.Pro833Thr)
n.3093C>A
c.2788C>A (p.Pro930Thr)
c.2854C>A (p.Pro952Thr)
c.2806C>A (p.Pro936Thr)
c.2671C>A (p.Pro891Thr)
16g.28835723C=CA2215806463ATXN2Lc.2860C= (p.Pro954=)
c.835C= (p.Pro279=)
n.3234C=
c.55C= (p.Pro19=)
c.2878C= (p.Pro960=)
c.1924C= (n.1924C=)
c.129C=
c.838C= (p.Pro280=)
c.380C=
c.2881C= (p.Pro961=)
c.2863C= (p.Pro955=)
c.2701C= (p.Pro901=)
c.2809C= (p.Pro937=)
c.2791C= (p.Pro931=)
c.2515C= (p.Pro839=)
n.3090C=
c.2683C= (p.Pro895=)
c.2497C= (p.Pro833=)
n.3093C=
c.2788C= (p.Pro930=)
c.2854C= (p.Pro952=)
c.2806C= (p.Pro936=)
c.2671C= (p.Pro891=)
16g.28835723C>GCA395408537ATXN2Lc.2860C>G (p.Pro954Ala)
c.835C>G (p.Pro279Ala)
n.3234C>G
c.55C>G (p.Pro19Ala)
c.2878C>G (p.Pro960Ala)
c.1924C>G (n.1924C>G)
c.129C>G
c.838C>G (p.Pro280Ala)
c.380C>G
c.2881C>G (p.Pro961Ala)
c.2863C>G (p.Pro955Ala)
c.2701C>G (p.Pro901Ala)
c.2809C>G (p.Pro937Ala)
c.2791C>G (p.Pro931Ala)
c.2515C>G (p.Pro839Ala)
n.3090C>G
c.2683C>G (p.Pro895Ala)
c.2497C>G (p.Pro833Ala)
n.3093C>G
c.2788C>G (p.Pro930Ala)
c.2854C>G (p.Pro952Ala)
c.2806C>G (p.Pro936Ala)
c.2671C>G (p.Pro891Ala)
16g.28835723C>TCA7985104ATXN2Lc.2860C>T (p.Pro954Ser)
c.835C>T (p.Pro279Ser)
n.3234C>T
c.55C>T (p.Pro19Ser)
c.2878C>T (p.Pro960Ser)
c.1924C>T (n.1924C>T)
c.129C>T
c.838C>T (p.Pro280Ser)
c.380C>T
c.2881C>T (p.Pro961Ser)
c.2863C>T (p.Pro955Ser)
c.2701C>T (p.Pro901Ser)
c.2809C>T (p.Pro937Ser)
c.2791C>T (p.Pro931Ser)
c.2515C>T (p.Pro839Ser)
n.3090C>T
c.2683C>T (p.Pro895Ser)
c.2497C>T (p.Pro833Ser)
n.3093C>T
c.2788C>T (p.Pro930Ser)
c.2854C>T (p.Pro952Ser)
c.2806C>T (p.Pro936Ser)
c.2671C>T (p.Pro891Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835724C>ACA395408542ATXN2Lc.2861C>A (p.Pro954His)
c.836C>A (p.Pro279His)
n.3235C>A
c.56C>A (p.Pro19His)
c.2879C>A (p.Pro960His)
c.1925C>A (n.1925C>A)
c.130C>A
c.839C>A (p.Pro280His)
c.381C>A
c.2882C>A (p.Pro961His)
c.2864C>A (p.Pro955His)
c.2702C>A (p.Pro901His)
c.2810C>A (p.Pro937His)
c.2792C>A (p.Pro931His)
c.2516C>A (p.Pro839His)
n.3091C>A
c.2684C>A (p.Pro895His)
c.2498C>A (p.Pro833His)
n.3094C>A
c.2789C>A (p.Pro930His)
c.2855C>A (p.Pro952His)
c.2807C>A (p.Pro936His)
c.2672C>A (p.Pro891His)
16g.28835724C>GCA395408544ATXN2Lc.2861C>G (p.Pro954Arg)
c.836C>G (p.Pro279Arg)
n.3235C>G
c.56C>G (p.Pro19Arg)
c.2879C>G (p.Pro960Arg)
c.1925C>G (n.1925C>G)
c.130C>G
c.839C>G (p.Pro280Arg)
c.381C>G
c.2882C>G (p.Pro961Arg)
c.2864C>G (p.Pro955Arg)
c.2702C>G (p.Pro901Arg)
c.2810C>G (p.Pro937Arg)
c.2792C>G (p.Pro931Arg)
c.2516C>G (p.Pro839Arg)
n.3091C>G
c.2684C>G (p.Pro895Arg)
c.2498C>G (p.Pro833Arg)
n.3094C>G
c.2789C>G (p.Pro930Arg)
c.2855C>G (p.Pro952Arg)
c.2807C>G (p.Pro936Arg)
c.2672C>G (p.Pro891Arg)
16g.28835724C>TCA395408545ATXN2Lc.2861C>T (p.Pro954Leu)
c.836C>T (p.Pro279Leu)
n.3235C>T
c.56C>T (p.Pro19Leu)
c.2879C>T (p.Pro960Leu)
c.1925C>T (n.1925C>T)
c.130C>T
c.839C>T (p.Pro280Leu)
c.381C>T
c.2882C>T (p.Pro961Leu)
c.2864C>T (p.Pro955Leu)
c.2702C>T (p.Pro901Leu)
c.2810C>T (p.Pro937Leu)
c.2792C>T (p.Pro931Leu)
c.2516C>T (p.Pro839Leu)
n.3091C>T
c.2684C>T (p.Pro895Leu)
c.2498C>T (p.Pro833Leu)
n.3094C>T
c.2789C>T (p.Pro930Leu)
c.2855C>T (p.Pro952Leu)
c.2807C>T (p.Pro936Leu)
c.2672C>T (p.Pro891Leu)
16g.28835725C>ACA494869420ATXN2Lc.2862C>A (p.Pro954=)
c.837C>A (p.Pro279=)
n.3236C>A
c.57C>A (p.Pro19=)
c.2880C>A (p.Pro960=)
c.1926C>A (n.1926C>A)
c.131C>A
c.840C>A (p.Pro280=)
c.382C>A
c.2883C>A (p.Pro961=)
c.2865C>A (p.Pro955=)
c.2703C>A (p.Pro901=)
c.2811C>A (p.Pro937=)
c.2793C>A (p.Pro931=)
c.2517C>A (p.Pro839=)
n.3092C>A
c.2685C>A (p.Pro895=)
c.2499C>A (p.Pro833=)
n.3095C>A
c.2790C>A (p.Pro930=)
c.2856C>A (p.Pro952=)
c.2808C>A (p.Pro936=)
c.2673C>A (p.Pro891=)
16g.28835725C>GCA494869422ATXN2Lc.2862C>G (p.Pro954=)
c.837C>G (p.Pro279=)
n.3236C>G
c.57C>G (p.Pro19=)
c.2880C>G (p.Pro960=)
c.1926C>G (n.1926C>G)
c.131C>G
c.840C>G (p.Pro280=)
c.382C>G
c.2883C>G (p.Pro961=)
c.2865C>G (p.Pro955=)
c.2703C>G (p.Pro901=)
c.2811C>G (p.Pro937=)
c.2793C>G (p.Pro931=)
c.2517C>G (p.Pro839=)
n.3092C>G
c.2685C>G (p.Pro895=)
c.2499C>G (p.Pro833=)
n.3095C>G
c.2790C>G (p.Pro930=)
c.2856C>G (p.Pro952=)
c.2808C>G (p.Pro936=)
c.2673C>G (p.Pro891=)
16g.28835725C>TCA494869412ATXN2Lc.2862C>T (p.Pro954=)
c.837C>T (p.Pro279=)
n.3236C>T
c.57C>T (p.Pro19=)
c.2880C>T (p.Pro960=)
c.1926C>T (n.1926C>T)
c.131C>T
c.840C>T (p.Pro280=)
c.382C>T
c.2883C>T (p.Pro961=)
c.2865C>T (p.Pro955=)
c.2703C>T (p.Pro901=)
c.2811C>T (p.Pro937=)
c.2793C>T (p.Pro931=)
c.2517C>T (p.Pro839=)
n.3092C>T
c.2685C>T (p.Pro895=)
c.2499C>T (p.Pro833=)
n.3095C>T
c.2790C>T (p.Pro930=)
c.2856C>T (p.Pro952=)
c.2808C>T (p.Pro936=)
c.2673C>T (p.Pro891=)
16g.28835726C>ACA395408547ATXN2Lc.2863C>A (p.His955Asn)
c.838C>A (p.His280Asn)
n.3237C>A
c.58C>A (p.His20Asn)
c.2881C>A (p.His961Asn)
c.1927C>A (n.1927C>A)
c.132C>A
c.841C>A (p.His281Asn)
c.383C>A
c.2884C>A (p.His962Asn)
c.2866C>A (p.His956Asn)
c.2704C>A (p.His902Asn)
c.2812C>A (p.His938Asn)
c.2794C>A (p.His932Asn)
c.2518C>A (p.His840Asn)
n.3093C>A
c.2686C>A (p.His896Asn)
c.2500C>A (p.His834Asn)
n.3096C>A
c.2791C>A (p.His931Asn)
c.2857C>A (p.His953Asn)
c.2809C>A (p.His937Asn)
c.2674C>A (p.His892Asn)
16g.28835726C>GCA395408549ATXN2Lc.2863C>G (p.His955Asp)
c.838C>G (p.His280Asp)
n.3237C>G
c.58C>G (p.His20Asp)
c.2881C>G (p.His961Asp)
c.1927C>G (n.1927C>G)
c.132C>G
c.841C>G (p.His281Asp)
c.383C>G
c.2884C>G (p.His962Asp)
c.2866C>G (p.His956Asp)
c.2704C>G (p.His902Asp)
c.2812C>G (p.His938Asp)
c.2794C>G (p.His932Asp)
c.2518C>G (p.His840Asp)
n.3093C>G
c.2686C>G (p.His896Asp)
c.2500C>G (p.His834Asp)
n.3096C>G
c.2791C>G (p.His931Asp)
c.2857C>G (p.His953Asp)
c.2809C>G (p.His937Asp)
c.2674C>G (p.His892Asp)
16g.28835726C>TCA395408551ATXN2Lc.2863C>T (p.His955Tyr)
c.838C>T (p.His280Tyr)
n.3237C>T
c.58C>T (p.His20Tyr)
c.2881C>T (p.His961Tyr)
c.1927C>T (n.1927C>T)
c.132C>T
c.841C>T (p.His281Tyr)
c.383C>T
c.2884C>T (p.His962Tyr)
c.2866C>T (p.His956Tyr)
c.2704C>T (p.His902Tyr)
c.2812C>T (p.His938Tyr)
c.2794C>T (p.His932Tyr)
c.2518C>T (p.His840Tyr)
n.3093C>T
c.2686C>T (p.His896Tyr)
c.2500C>T (p.His834Tyr)
n.3096C>T
c.2791C>T (p.His931Tyr)
c.2857C>T (p.His953Tyr)
c.2809C>T (p.His937Tyr)
c.2674C>T (p.His892Tyr)
16g.28835727A>CCA395408553ATXN2Lc.2864A>C (p.His955Pro)
c.839A>C (p.His280Pro)
n.3238A>C
c.59A>C (p.His20Pro)
c.2882A>C (p.His961Pro)
c.1928A>C (n.1928A>C)
c.133A>C
c.842A>C (p.His281Pro)
c.384A>C
c.2885A>C (p.His962Pro)
c.2867A>C (p.His956Pro)
c.2705A>C (p.His902Pro)
c.2813A>C (p.His938Pro)
c.2795A>C (p.His932Pro)
c.2519A>C (p.His840Pro)
n.3094A>C
c.2687A>C (p.His896Pro)
c.2501A>C (p.His834Pro)
n.3097A>C
c.2792A>C (p.His931Pro)
c.2858A>C (p.His953Pro)
c.2810A>C (p.His937Pro)
c.2675A>C (p.His892Pro)
16g.28835727A>GCA395408555ATXN2Lc.2864A>G (p.His955Arg)
c.839A>G (p.His280Arg)
n.3238A>G
c.59A>G (p.His20Arg)
c.2882A>G (p.His961Arg)
c.1928A>G (n.1928A>G)
c.133A>G
c.842A>G (p.His281Arg)
c.384A>G
c.2885A>G (p.His962Arg)
c.2867A>G (p.His956Arg)
c.2705A>G (p.His902Arg)
c.2813A>G (p.His938Arg)
c.2795A>G (p.His932Arg)
c.2519A>G (p.His840Arg)
n.3094A>G
c.2687A>G (p.His896Arg)
c.2501A>G (p.His834Arg)
n.3097A>G
c.2792A>G (p.His931Arg)
c.2858A>G (p.His953Arg)
c.2810A>G (p.His937Arg)
c.2675A>G (p.His892Arg)
16g.28835727A>TCA395408556ATXN2Lc.2864A>T (p.His955Leu)
c.839A>T (p.His280Leu)
n.3238A>T
c.59A>T (p.His20Leu)
c.2882A>T (p.His961Leu)
c.1928A>T (n.1928A>T)
c.133A>T
c.842A>T (p.His281Leu)
c.384A>T
c.2885A>T (p.His962Leu)
c.2867A>T (p.His956Leu)
c.2705A>T (p.His902Leu)
c.2813A>T (p.His938Leu)
c.2795A>T (p.His932Leu)
c.2519A>T (p.His840Leu)
n.3094A>T
c.2687A>T (p.His896Leu)
c.2501A>T (p.His834Leu)
n.3097A>T
c.2792A>T (p.His931Leu)
c.2858A>T (p.His953Leu)
c.2810A>T (p.His937Leu)
c.2675A>T (p.His892Leu)
16g.28835728C>ACA395408559ATXN2Lc.2865C>A (p.His955Gln)
c.840C>A (p.His280Gln)
n.3239C>A
c.60C>A (p.His20Gln)
c.2883C>A (p.His961Gln)
c.1929C>A (n.1929C>A)
c.134C>A
c.843C>A (p.His281Gln)
c.385C>A
c.2886C>A (p.His962Gln)
c.2868C>A (p.His956Gln)
c.2706C>A (p.His902Gln)
c.2814C>A (p.His938Gln)
c.2796C>A (p.His932Gln)
c.2520C>A (p.His840Gln)
n.3095C>A
c.2688C>A (p.His896Gln)
c.2502C>A (p.His834Gln)
n.3098C>A
c.2793C>A (p.His931Gln)
c.2859C>A (p.His953Gln)
c.2811C>A (p.His937Gln)
c.2676C>A (p.His892Gln)
16g.28835728C=CA2215806467ATXN2Lc.2865C= (p.His955=)
c.840C= (p.His280=)
n.3239C=
c.60C= (p.His20=)
c.2883C= (p.His961=)
c.1929C= (n.1929C=)
c.134C=
c.843C= (p.His281=)
c.385C=
c.2886C= (p.His962=)
c.2868C= (p.His956=)
c.2706C= (p.His902=)
c.2814C= (p.His938=)
c.2796C= (p.His932=)
c.2520C= (p.His840=)
n.3095C=
c.2688C= (p.His896=)
c.2502C= (p.His834=)
n.3098C=
c.2793C= (p.His931=)
c.2859C= (p.His953=)
c.2811C= (p.His937=)
c.2676C= (p.His892=)
16g.28835728C>GCA395408561ATXN2Lc.2865C>G (p.His955Gln)
c.840C>G (p.His280Gln)
n.3239C>G
c.60C>G (p.His20Gln)
c.2883C>G (p.His961Gln)
c.1929C>G (n.1929C>G)
c.134C>G
c.843C>G (p.His281Gln)
c.385C>G
c.2886C>G (p.His962Gln)
c.2868C>G (p.His956Gln)
c.2706C>G (p.His902Gln)
c.2814C>G (p.His938Gln)
c.2796C>G (p.His932Gln)
c.2520C>G (p.His840Gln)
n.3095C>G
c.2688C>G (p.His896Gln)
c.2502C>G (p.His834Gln)
n.3098C>G
c.2793C>G (p.His931Gln)
c.2859C>G (p.His953Gln)
c.2811C>G (p.His937Gln)
c.2676C>G (p.His892Gln)
16g.28835728C>TCA7985105ATXN2Lc.2865C>T (p.His955=)
c.840C>T (p.His280=)
n.3239C>T
c.60C>T (p.His20=)
c.2883C>T (p.His961=)
c.1929C>T (n.1929C>T)
c.134C>T
c.843C>T (p.His281=)
c.385C>T
c.2886C>T (p.His962=)
c.2868C>T (p.His956=)
c.2706C>T (p.His902=)
c.2814C>T (p.His938=)
c.2796C>T (p.His932=)
c.2520C>T (p.His840=)
n.3095C>T
c.2688C>T (p.His896=)
c.2502C>T (p.His834=)
n.3098C>T
c.2793C>T (p.His931=)
c.2859C>T (p.His953=)
c.2811C>T (p.His937=)
c.2676C>T (p.His892=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835729G>ACA7985106ATXN2Lc.2866G>A (p.Gly956Ser)
c.841G>A (p.Gly281Ser)
n.3240G>A
c.61G>A (p.Gly21Ser)
c.2884G>A (p.Gly962Ser)
c.1930G>A (n.1930G>A)
c.135G>A
c.844G>A (p.Gly282Ser)
c.386G>A
c.2887G>A (p.Gly963Ser)
c.2869G>A (p.Gly957Ser)
c.2707G>A (p.Gly903Ser)
c.2815G>A (p.Gly939Ser)
c.2797G>A (p.Gly933Ser)
c.2521G>A (p.Gly841Ser)
n.3096G>A
c.2689G>A (p.Gly897Ser)
c.2503G>A (p.Gly835Ser)
n.3099G>A
c.2794G>A (p.Gly932Ser)
c.2860G>A (p.Gly954Ser)
c.2812G>A (p.Gly938Ser)
c.2677G>A (p.Gly893Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835729G>CCA395408565ATXN2Lc.2866G>C (p.Gly956Arg)
c.841G>C (p.Gly281Arg)
n.3240G>C
c.61G>C (p.Gly21Arg)
c.2884G>C (p.Gly962Arg)
c.1930G>C (n.1930G>C)
c.135G>C
c.844G>C (p.Gly282Arg)
c.386G>C
c.2887G>C (p.Gly963Arg)
c.2869G>C (p.Gly957Arg)
c.2707G>C (p.Gly903Arg)
c.2815G>C (p.Gly939Arg)
c.2797G>C (p.Gly933Arg)
c.2521G>C (p.Gly841Arg)
n.3096G>C
c.2689G>C (p.Gly897Arg)
c.2503G>C (p.Gly835Arg)
n.3099G>C
c.2794G>C (p.Gly932Arg)
c.2860G>C (p.Gly954Arg)
c.2812G>C (p.Gly938Arg)
c.2677G>C (p.Gly893Arg)
 gnomAD v4
16g.28835729G=CA2215806471ATXN2Lc.2866G= (p.Gly956=)
c.841G= (p.Gly281=)
n.3240G=
c.61G= (p.Gly21=)
c.2884G= (p.Gly962=)
c.1930G= (n.1930G=)
c.135G=
c.844G= (p.Gly282=)
c.386G=
c.2887G= (p.Gly963=)
c.2869G= (p.Gly957=)
c.2707G= (p.Gly903=)
c.2815G= (p.Gly939=)
c.2797G= (p.Gly933=)
c.2521G= (p.Gly841=)
n.3096G=
c.2689G= (p.Gly897=)
c.2503G= (p.Gly835=)
n.3099G=
c.2794G= (p.Gly932=)
c.2860G= (p.Gly954=)
c.2812G= (p.Gly938=)
c.2677G= (p.Gly893=)
16g.28835729G>TCA7985107ATXN2Lc.2866G>T (p.Gly956Cys)
c.841G>T (p.Gly281Cys)
n.3240G>T
c.61G>T (p.Gly21Cys)
c.2884G>T (p.Gly962Cys)
c.1930G>T (n.1930G>T)
c.135G>T
c.844G>T (p.Gly282Cys)
c.386G>T
c.2887G>T (p.Gly963Cys)
c.2869G>T (p.Gly957Cys)
c.2707G>T (p.Gly903Cys)
c.2815G>T (p.Gly939Cys)
c.2797G>T (p.Gly933Cys)
c.2521G>T (p.Gly841Cys)
n.3096G>T
c.2689G>T (p.Gly897Cys)
c.2503G>T (p.Gly835Cys)
n.3099G>T
c.2794G>T (p.Gly932Cys)
c.2860G>T (p.Gly954Cys)
c.2812G>T (p.Gly938Cys)
c.2677G>T (p.Gly893Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835730G>ACA279230797ATXN2Lc.2867G>A (p.Gly956Asp)
c.842G>A (p.Gly281Asp)
n.3241G>A
c.62G>A (p.Gly21Asp)
c.2885G>A (p.Gly962Asp)
c.1931G>A (n.1931G>A)
c.136G>A
c.845G>A (p.Gly282Asp)
c.387G>A
c.2888G>A (p.Gly963Asp)
c.2870G>A (p.Gly957Asp)
c.2708G>A (p.Gly903Asp)
c.2816G>A (p.Gly939Asp)
c.2798G>A (p.Gly933Asp)
c.2522G>A (p.Gly841Asp)
n.3097G>A
c.2690G>A (p.Gly897Asp)
c.2504G>A (p.Gly835Asp)
n.3100G>A
c.2795G>A (p.Gly932Asp)
c.2861G>A (p.Gly954Asp)
c.2813G>A (p.Gly938Asp)
c.2678G>A (p.Gly893Asp)
 dbSNP gnomAD v4
16g.28835730G>CCA395408568ATXN2Lc.2867G>C (p.Gly956Ala)
c.842G>C (p.Gly281Ala)
n.3241G>C
c.62G>C (p.Gly21Ala)
c.2885G>C (p.Gly962Ala)
c.1931G>C (n.1931G>C)
c.136G>C
c.845G>C (p.Gly282Ala)
c.387G>C
c.2888G>C (p.Gly963Ala)
c.2870G>C (p.Gly957Ala)
c.2708G>C (p.Gly903Ala)
c.2816G>C (p.Gly939Ala)
c.2798G>C (p.Gly933Ala)
c.2522G>C (p.Gly841Ala)
n.3097G>C
c.2690G>C (p.Gly897Ala)
c.2504G>C (p.Gly835Ala)
n.3100G>C
c.2795G>C (p.Gly932Ala)
c.2861G>C (p.Gly954Ala)
c.2813G>C (p.Gly938Ala)
c.2678G>C (p.Gly893Ala)
 dbSNP gnomAD v2 gnomAD v4
16g.28835730G=CA2215806476ATXN2Lc.2867G= (p.Gly956=)
c.842G= (p.Gly281=)
n.3241G=
c.62G= (p.Gly21=)
c.2885G= (p.Gly962=)
c.1931G= (n.1931G=)
c.136G=
c.845G= (p.Gly282=)
c.387G=
c.2888G= (p.Gly963=)
c.2870G= (p.Gly957=)
c.2708G= (p.Gly903=)
c.2816G= (p.Gly939=)
c.2798G= (p.Gly933=)
c.2522G= (p.Gly841=)
n.3097G=
c.2690G= (p.Gly897=)
c.2504G= (p.Gly835=)
n.3100G=
c.2795G= (p.Gly932=)
c.2861G= (p.Gly954=)
c.2813G= (p.Gly938=)
c.2678G= (p.Gly893=)
16g.28835730G>TCA395408570ATXN2Lc.2867G>T (p.Gly956Val)
c.842G>T (p.Gly281Val)
n.3241G>T
c.62G>T (p.Gly21Val)
c.2885G>T (p.Gly962Val)
c.1931G>T (n.1931G>T)
c.136G>T
c.845G>T (p.Gly282Val)
c.387G>T
c.2888G>T (p.Gly963Val)
c.2870G>T (p.Gly957Val)
c.2708G>T (p.Gly903Val)
c.2816G>T (p.Gly939Val)
c.2798G>T (p.Gly933Val)
c.2522G>T (p.Gly841Val)
n.3097G>T
c.2690G>T (p.Gly897Val)
c.2504G>T (p.Gly835Val)
n.3100G>T
c.2795G>T (p.Gly932Val)
c.2861G>T (p.Gly954Val)
c.2813G>T (p.Gly938Val)
c.2678G>T (p.Gly893Val)
 gnomAD v4
16g.28835731C>ACA494869455ATXN2Lc.2868C>A (p.Gly956=)
c.843C>A (p.Gly281=)
n.3242C>A
c.63C>A (p.Gly21=)
c.2886C>A (p.Gly962=)
c.1932C>A (n.1932C>A)
c.137C>A
c.846C>A (p.Gly282=)
c.388C>A
c.2889C>A (p.Gly963=)
c.2871C>A (p.Gly957=)
c.2709C>A (p.Gly903=)
c.2817C>A (p.Gly939=)
c.2799C>A (p.Gly933=)
c.2523C>A (p.Gly841=)
n.3098C>A
c.2691C>A (p.Gly897=)
c.2505C>A (p.Gly835=)
n.3101C>A
c.2796C>A (p.Gly932=)
c.2862C>A (p.Gly954=)
c.2814C>A (p.Gly938=)
c.2679C>A (p.Gly893=)
16g.28835731C=CA2215806485ATXN2Lc.2868C= (p.Gly956=)
c.843C= (p.Gly281=)
n.3242C=
c.63C= (p.Gly21=)
c.2886C= (p.Gly962=)
c.1932C= (n.1932C=)
c.137C=
c.846C= (p.Gly282=)
c.388C=
c.2889C= (p.Gly963=)
c.2871C= (p.Gly957=)
c.2709C= (p.Gly903=)
c.2817C= (p.Gly939=)
c.2799C= (p.Gly933=)
c.2523C= (p.Gly841=)
n.3098C=
c.2691C= (p.Gly897=)
c.2505C= (p.Gly835=)
n.3101C=
c.2796C= (p.Gly932=)
c.2862C= (p.Gly954=)
c.2814C= (p.Gly938=)
c.2679C= (p.Gly893=)
16g.28835731C>GCA494869457ATXN2Lc.2868C>G (p.Gly956=)
c.843C>G (p.Gly281=)
n.3242C>G
c.63C>G (p.Gly21=)
c.2886C>G (p.Gly962=)
c.1932C>G (n.1932C>G)
c.137C>G
c.846C>G (p.Gly282=)
c.388C>G
c.2889C>G (p.Gly963=)
c.2871C>G (p.Gly957=)
c.2709C>G (p.Gly903=)
c.2817C>G (p.Gly939=)
c.2799C>G (p.Gly933=)
c.2523C>G (p.Gly841=)
n.3098C>G
c.2691C>G (p.Gly897=)
c.2505C>G (p.Gly835=)
n.3101C>G
c.2796C>G (p.Gly932=)
c.2862C>G (p.Gly954=)
c.2814C>G (p.Gly938=)
c.2679C>G (p.Gly893=)
16g.28835731C>TCA7985108ATXN2Lc.2868C>T (p.Gly956=)
c.843C>T (p.Gly281=)
n.3242C>T
c.63C>T (p.Gly21=)
c.2886C>T (p.Gly962=)
c.1932C>T (n.1932C>T)
c.137C>T
c.846C>T (p.Gly282=)
c.388C>T
c.2889C>T (p.Gly963=)
c.2871C>T (p.Gly957=)
c.2709C>T (p.Gly903=)
c.2817C>T (p.Gly939=)
c.2799C>T (p.Gly933=)
c.2523C>T (p.Gly841=)
n.3098C>T
c.2691C>T (p.Gly897=)
c.2505C>T (p.Gly835=)
n.3101C>T
c.2796C>T (p.Gly932=)
c.2862C>T (p.Gly954=)
c.2814C>T (p.Gly938=)
c.2679C>T (p.Gly893=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835732T>ACA395408574ATXN2Lc.2869T>A (p.Phe957Ile)
c.844T>A (p.Phe282Ile)
n.3243T>A
c.64T>A (p.Phe22Ile)
c.2887T>A (p.Phe963Ile)
c.1933T>A (n.1933T>A)
c.138T>A
c.847T>A (p.Phe283Ile)
c.389T>A
c.2890T>A (p.Phe964Ile)
c.2872T>A (p.Phe958Ile)
c.2710T>A (p.Phe904Ile)
c.2818T>A (p.Phe940Ile)
c.2800T>A (p.Phe934Ile)
c.2524T>A (p.Phe842Ile)
n.3099T>A
c.2692T>A (p.Phe898Ile)
c.2506T>A (p.Phe836Ile)
n.3102T>A
c.2797T>A (p.Phe933Ile)
c.2863T>A (p.Phe955Ile)
c.2815T>A (p.Phe939Ile)
c.2680T>A (p.Phe894Ile)
16g.28835732T>CCA395408575ATXN2Lc.2869T>C (p.Phe957Leu)
c.844T>C (p.Phe282Leu)
n.3243T>C
c.64T>C (p.Phe22Leu)
c.2887T>C (p.Phe963Leu)
c.1933T>C (n.1933T>C)
c.138T>C
c.847T>C (p.Phe283Leu)
c.389T>C
c.2890T>C (p.Phe964Leu)
c.2872T>C (p.Phe958Leu)
c.2710T>C (p.Phe904Leu)
c.2818T>C (p.Phe940Leu)
c.2800T>C (p.Phe934Leu)
c.2524T>C (p.Phe842Leu)
n.3099T>C
c.2692T>C (p.Phe898Leu)
c.2506T>C (p.Phe836Leu)
n.3102T>C
c.2797T>C (p.Phe933Leu)
c.2863T>C (p.Phe955Leu)
c.2815T>C (p.Phe939Leu)
c.2680T>C (p.Phe894Leu)
16g.28835732T>GCA395408576ATXN2Lc.2869T>G (p.Phe957Val)
c.844T>G (p.Phe282Val)
n.3243T>G
c.64T>G (p.Phe22Val)
c.2887T>G (p.Phe963Val)
c.1933T>G (n.1933T>G)
c.138T>G
c.847T>G (p.Phe283Val)
c.389T>G
c.2890T>G (p.Phe964Val)
c.2872T>G (p.Phe958Val)
c.2710T>G (p.Phe904Val)
c.2818T>G (p.Phe940Val)
c.2800T>G (p.Phe934Val)
c.2524T>G (p.Phe842Val)
n.3099T>G
c.2692T>G (p.Phe898Val)
c.2506T>G (p.Phe836Val)
n.3102T>G
c.2797T>G (p.Phe933Val)
c.2863T>G (p.Phe955Val)
c.2815T>G (p.Phe939Val)
c.2680T>G (p.Phe894Val)
16g.28835733T>ACA395408579ATXN2Lc.2870T>A (p.Phe957Tyr)
c.845T>A (p.Phe282Tyr)
n.3244T>A
c.65T>A (p.Phe22Tyr)
c.2888T>A (p.Phe963Tyr)
c.1934T>A (n.1934T>A)
c.139T>A
c.848T>A (p.Phe283Tyr)
c.390T>A
c.2891T>A (p.Phe964Tyr)
c.2873T>A (p.Phe958Tyr)
c.2711T>A (p.Phe904Tyr)
c.2819T>A (p.Phe940Tyr)
c.2801T>A (p.Phe934Tyr)
c.2525T>A (p.Phe842Tyr)
n.3100T>A
c.2693T>A (p.Phe898Tyr)
c.2507T>A (p.Phe836Tyr)
n.3103T>A
c.2798T>A (p.Phe933Tyr)
c.2864T>A (p.Phe955Tyr)
c.2816T>A (p.Phe939Tyr)
c.2681T>A (p.Phe894Tyr)
16g.28835733T>CCA395408580ATXN2Lc.2870T>C (p.Phe957Ser)
c.845T>C (p.Phe282Ser)
n.3244T>C
c.65T>C (p.Phe22Ser)
c.2888T>C (p.Phe963Ser)
c.1934T>C (n.1934T>C)
c.139T>C
c.848T>C (p.Phe283Ser)
c.390T>C
c.2891T>C (p.Phe964Ser)
c.2873T>C (p.Phe958Ser)
c.2711T>C (p.Phe904Ser)
c.2819T>C (p.Phe940Ser)
c.2801T>C (p.Phe934Ser)
c.2525T>C (p.Phe842Ser)
n.3100T>C
c.2693T>C (p.Phe898Ser)
c.2507T>C (p.Phe836Ser)
n.3103T>C
c.2798T>C (p.Phe933Ser)
c.2864T>C (p.Phe955Ser)
c.2816T>C (p.Phe939Ser)
c.2681T>C (p.Phe894Ser)
16g.28835733T>GCA395408582ATXN2Lc.2870T>G (p.Phe957Cys)
c.845T>G (p.Phe282Cys)
n.3244T>G
c.65T>G (p.Phe22Cys)
c.2888T>G (p.Phe963Cys)
c.1934T>G (n.1934T>G)
c.139T>G
c.848T>G (p.Phe283Cys)
c.390T>G
c.2891T>G (p.Phe964Cys)
c.2873T>G (p.Phe958Cys)
c.2711T>G (p.Phe904Cys)
c.2819T>G (p.Phe940Cys)
c.2801T>G (p.Phe934Cys)
c.2525T>G (p.Phe842Cys)
n.3100T>G
c.2693T>G (p.Phe898Cys)
c.2507T>G (p.Phe836Cys)
n.3103T>G
c.2798T>G (p.Phe933Cys)
c.2864T>G (p.Phe955Cys)
c.2816T>G (p.Phe939Cys)
c.2681T>G (p.Phe894Cys)
16g.28835734C>ACA395408584ATXN2Lc.2871C>A (p.Phe957Leu)
c.846C>A (p.Phe282Leu)
n.3245C>A
c.66C>A (p.Phe22Leu)
c.2889C>A (p.Phe963Leu)
c.1935C>A (n.1935C>A)
c.140C>A
c.849C>A (p.Phe283Leu)
c.391C>A
c.2892C>A (p.Phe964Leu)
c.2874C>A (p.Phe958Leu)
c.2712C>A (p.Phe904Leu)
c.2820C>A (p.Phe940Leu)
c.2802C>A (p.Phe934Leu)
c.2526C>A (p.Phe842Leu)
n.3101C>A
c.2694C>A (p.Phe898Leu)
c.2508C>A (p.Phe836Leu)
n.3104C>A
c.2799C>A (p.Phe933Leu)
c.2865C>A (p.Phe955Leu)
c.2817C>A (p.Phe939Leu)
c.2682C>A (p.Phe894Leu)
16g.28835734C=CA2215806487ATXN2Lc.2871C= (p.Phe957=)
c.846C= (p.Phe282=)
n.3245C=
c.66C= (p.Phe22=)
c.2889C= (p.Phe963=)
c.1935C= (n.1935C=)
c.140C=
c.849C= (p.Phe283=)
c.391C=
c.2892C= (p.Phe964=)
c.2874C= (p.Phe958=)
c.2712C= (p.Phe904=)
c.2820C= (p.Phe940=)
c.2802C= (p.Phe934=)
c.2526C= (p.Phe842=)
n.3101C=
c.2694C= (p.Phe898=)
c.2508C= (p.Phe836=)
n.3104C=
c.2799C= (p.Phe933=)
c.2865C= (p.Phe955=)
c.2817C= (p.Phe939=)
c.2682C= (p.Phe894=)
16g.28835734C>GCA395408586ATXN2Lc.2871C>G (p.Phe957Leu)
c.846C>G (p.Phe282Leu)
n.3245C>G
c.66C>G (p.Phe22Leu)
c.2889C>G (p.Phe963Leu)
c.1935C>G (n.1935C>G)
c.140C>G
c.849C>G (p.Phe283Leu)
c.391C>G
c.2892C>G (p.Phe964Leu)
c.2874C>G (p.Phe958Leu)
c.2712C>G (p.Phe904Leu)
c.2820C>G (p.Phe940Leu)
c.2802C>G (p.Phe934Leu)
c.2526C>G (p.Phe842Leu)
n.3101C>G
c.2694C>G (p.Phe898Leu)
c.2508C>G (p.Phe836Leu)
n.3104C>G
c.2799C>G (p.Phe933Leu)
c.2865C>G (p.Phe955Leu)
c.2817C>G (p.Phe939Leu)
c.2682C>G (p.Phe894Leu)
16g.28835734C>TCA7985109ATXN2Lc.2871C>T (p.Phe957=)
c.846C>T (p.Phe282=)
n.3245C>T
c.66C>T (p.Phe22=)
c.2889C>T (p.Phe963=)
c.1935C>T (n.1935C>T)
c.140C>T
c.849C>T (p.Phe283=)
c.391C>T
c.2892C>T (p.Phe964=)
c.2874C>T (p.Phe958=)
c.2712C>T (p.Phe904=)
c.2820C>T (p.Phe940=)
c.2802C>T (p.Phe934=)
c.2526C>T (p.Phe842=)
n.3101C>T
c.2694C>T (p.Phe898=)
c.2508C>T (p.Phe836=)
n.3104C>T
c.2799C>T (p.Phe933=)
c.2865C>T (p.Phe955=)
c.2817C>T (p.Phe939=)
c.2682C>T (p.Phe894=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835735A=CA2215806491ATXN2Lc.2872A= (p.Thr958=)
c.847A= (p.Thr283=)
n.3246A=
c.67A= (p.Thr23=)
c.2890A= (p.Thr964=)
c.1936A= (n.1936A=)
c.141A=
c.850A= (p.Thr284=)
c.392A=
c.2893A= (p.Thr965=)
c.2875A= (p.Thr959=)
c.2713A= (p.Thr905=)
c.2821A= (p.Thr941=)
c.2803A= (p.Thr935=)
c.2527A= (p.Thr843=)
n.3102A=
c.2695A= (p.Thr899=)
c.2509A= (p.Thr837=)
n.3105A=
c.2800A= (p.Thr934=)
c.2866A= (p.Thr956=)
c.2818A= (p.Thr940=)
c.2683A= (p.Thr895=)
16g.28835735A>CCA395408592ATXN2Lc.2872A>C (p.Thr958Pro)
c.847A>C (p.Thr283Pro)
n.3246A>C
c.67A>C (p.Thr23Pro)
c.2890A>C (p.Thr964Pro)
c.1936A>C (n.1936A>C)
c.141A>C
c.850A>C (p.Thr284Pro)
c.392A>C
c.2893A>C (p.Thr965Pro)
c.2875A>C (p.Thr959Pro)
c.2713A>C (p.Thr905Pro)
c.2821A>C (p.Thr941Pro)
c.2803A>C (p.Thr935Pro)
c.2527A>C (p.Thr843Pro)
n.3102A>C
c.2695A>C (p.Thr899Pro)
c.2509A>C (p.Thr837Pro)
n.3105A>C
c.2800A>C (p.Thr934Pro)
c.2866A>C (p.Thr956Pro)
c.2818A>C (p.Thr940Pro)
c.2683A>C (p.Thr895Pro)
16g.28835735A>GCA7985110ATXN2Lc.2872A>G (p.Thr958Ala)
c.847A>G (p.Thr283Ala)
n.3246A>G
c.67A>G (p.Thr23Ala)
c.2890A>G (p.Thr964Ala)
c.1936A>G (n.1936A>G)
c.141A>G
c.850A>G (p.Thr284Ala)
c.392A>G
c.2893A>G (p.Thr965Ala)
c.2875A>G (p.Thr959Ala)
c.2713A>G (p.Thr905Ala)
c.2821A>G (p.Thr941Ala)
c.2803A>G (p.Thr935Ala)
c.2527A>G (p.Thr843Ala)
n.3102A>G
c.2695A>G (p.Thr899Ala)
c.2509A>G (p.Thr837Ala)
n.3105A>G
c.2800A>G (p.Thr934Ala)
c.2866A>G (p.Thr956Ala)
c.2818A>G (p.Thr940Ala)
c.2683A>G (p.Thr895Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835735A>TCA395408589ATXN2Lc.2872A>T (p.Thr958Ser)
c.847A>T (p.Thr283Ser)
n.3246A>T
c.67A>T (p.Thr23Ser)
c.2890A>T (p.Thr964Ser)
c.1936A>T (n.1936A>T)
c.141A>T
c.850A>T (p.Thr284Ser)
c.392A>T
c.2893A>T (p.Thr965Ser)
c.2875A>T (p.Thr959Ser)
c.2713A>T (p.Thr905Ser)
c.2821A>T (p.Thr941Ser)
c.2803A>T (p.Thr935Ser)
c.2527A>T (p.Thr843Ser)
n.3102A>T
c.2695A>T (p.Thr899Ser)
c.2509A>T (p.Thr837Ser)
n.3105A>T
c.2800A>T (p.Thr934Ser)
c.2866A>T (p.Thr956Ser)
c.2818A>T (p.Thr940Ser)
c.2683A>T (p.Thr895Ser)
16g.28835736C>ACA395408594ATXN2Lc.2873C>A (p.Thr958Asn)
c.848C>A (p.Thr283Asn)
n.3247C>A
c.68C>A (p.Thr23Asn)
c.2891C>A (p.Thr964Asn)
c.1937C>A (n.1937C>A)
c.142C>A
c.851C>A (p.Thr284Asn)
c.393C>A
c.2894C>A (p.Thr965Asn)
c.2876C>A (p.Thr959Asn)
c.2714C>A (p.Thr905Asn)
c.2822C>A (p.Thr941Asn)
c.2804C>A (p.Thr935Asn)
c.2528C>A (p.Thr843Asn)
n.3103C>A
c.2696C>A (p.Thr899Asn)
c.2510C>A (p.Thr837Asn)
n.3106C>A
c.2801C>A (p.Thr934Asn)
c.2867C>A (p.Thr956Asn)
c.2819C>A (p.Thr940Asn)
c.2684C>A (p.Thr895Asn)
16g.28835736C>GCA395408595ATXN2Lc.2873C>G (p.Thr958Ser)
c.848C>G (p.Thr283Ser)
n.3247C>G
c.68C>G (p.Thr23Ser)
c.2891C>G (p.Thr964Ser)
c.1937C>G (n.1937C>G)
c.142C>G
c.851C>G (p.Thr284Ser)
c.393C>G
c.2894C>G (p.Thr965Ser)
c.2876C>G (p.Thr959Ser)
c.2714C>G (p.Thr905Ser)
c.2822C>G (p.Thr941Ser)
c.2804C>G (p.Thr935Ser)
c.2528C>G (p.Thr843Ser)
n.3103C>G
c.2696C>G (p.Thr899Ser)
c.2510C>G (p.Thr837Ser)
n.3106C>G
c.2801C>G (p.Thr934Ser)
c.2867C>G (p.Thr956Ser)
c.2819C>G (p.Thr940Ser)
c.2684C>G (p.Thr895Ser)
16g.28835736C>TCA395408596ATXN2Lc.2873C>T (p.Thr958Ile)
c.848C>T (p.Thr283Ile)
n.3247C>T
c.68C>T (p.Thr23Ile)
c.2891C>T (p.Thr964Ile)
c.1937C>T (n.1937C>T)
c.142C>T
c.851C>T (p.Thr284Ile)
c.393C>T
c.2894C>T (p.Thr965Ile)
c.2876C>T (p.Thr959Ile)
c.2714C>T (p.Thr905Ile)
c.2822C>T (p.Thr941Ile)
c.2804C>T (p.Thr935Ile)
c.2528C>T (p.Thr843Ile)
n.3103C>T
c.2696C>T (p.Thr899Ile)
c.2510C>T (p.Thr837Ile)
n.3106C>T
c.2801C>T (p.Thr934Ile)
c.2867C>T (p.Thr956Ile)
c.2819C>T (p.Thr940Ile)
c.2684C>T (p.Thr895Ile)
16g.28835737C>ACA7985111ATXN2Lc.2874C>A (p.Thr958=)
c.849C>A (p.Thr283=)
n.3248C>A
c.69C>A (p.Thr23=)
c.2892C>A (p.Thr964=)
c.1938C>A (n.1938C>A)
c.143C>A
c.852C>A (p.Thr284=)
c.394C>A
c.2895C>A (p.Thr965=)
c.2877C>A (p.Thr959=)
c.2715C>A (p.Thr905=)
c.2823C>A (p.Thr941=)
c.2805C>A (p.Thr935=)
c.2529C>A (p.Thr843=)
n.3104C>A
c.2697C>A (p.Thr899=)
c.2511C>A (p.Thr837=)
n.3107C>A
c.2802C>A (p.Thr934=)
c.2868C>A (p.Thr956=)
c.2820C>A (p.Thr940=)
c.2685C>A (p.Thr895=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835737C=CA2215806496ATXN2Lc.2874C= (p.Thr958=)
c.849C= (p.Thr283=)
n.3248C=
c.69C= (p.Thr23=)
c.2892C= (p.Thr964=)
c.1938C= (n.1938C=)
c.143C=
c.852C= (p.Thr284=)
c.394C=
c.2895C= (p.Thr965=)
c.2877C= (p.Thr959=)
c.2715C= (p.Thr905=)
c.2823C= (p.Thr941=)
c.2805C= (p.Thr935=)
c.2529C= (p.Thr843=)
n.3104C=
c.2697C= (p.Thr899=)
c.2511C= (p.Thr837=)
n.3107C=
c.2802C= (p.Thr934=)
c.2868C= (p.Thr956=)
c.2820C= (p.Thr940=)
c.2685C= (p.Thr895=)
16g.28835737C>GCA494869480ATXN2Lc.2874C>G (p.Thr958=)
c.849C>G (p.Thr283=)
n.3248C>G
c.69C>G (p.Thr23=)
c.2892C>G (p.Thr964=)
c.1938C>G (n.1938C>G)
c.143C>G
c.852C>G (p.Thr284=)
c.394C>G
c.2895C>G (p.Thr965=)
c.2877C>G (p.Thr959=)
c.2715C>G (p.Thr905=)
c.2823C>G (p.Thr941=)
c.2805C>G (p.Thr935=)
c.2529C>G (p.Thr843=)
n.3104C>G
c.2697C>G (p.Thr899=)
c.2511C>G (p.Thr837=)
n.3107C>G
c.2802C>G (p.Thr934=)
c.2868C>G (p.Thr956=)
c.2820C>G (p.Thr940=)
c.2685C>G (p.Thr895=)
16g.28835737C>TCA494869482ATXN2Lc.2874C>T (p.Thr958=)
c.849C>T (p.Thr283=)
n.3248C>T
c.69C>T (p.Thr23=)
c.2892C>T (p.Thr964=)
c.1938C>T (n.1938C>T)
c.143C>T
c.852C>T (p.Thr284=)
c.394C>T
c.2895C>T (p.Thr965=)
c.2877C>T (p.Thr959=)
c.2715C>T (p.Thr905=)
c.2823C>T (p.Thr941=)
c.2805C>T (p.Thr935=)
c.2529C>T (p.Thr843=)
n.3104C>T
c.2697C>T (p.Thr899=)
c.2511C>T (p.Thr837=)
n.3107C>T
c.2802C>T (p.Thr934=)
c.2868C>T (p.Thr956=)
c.2820C>T (p.Thr940=)
c.2685C>T (p.Thr895=)
 gnomAD v4
16g.28835738A=CA2215806499ATXN2Lc.2875A= (p.Asn959=)
c.850A= (p.Asn284=)
n.3249A=
c.70A= (p.Asn24=)
c.2893A= (p.Asn965=)
c.1939A= (n.1939A=)
c.144A=
c.853A= (p.Asn285=)
c.395A=
c.2896A= (p.Asn966=)
c.2878A= (p.Asn960=)
c.2716A= (p.Asn906=)
c.2824A= (p.Asn942=)
c.2806A= (p.Asn936=)
c.2530A= (p.Asn844=)
n.3105A=
c.2698A= (p.Asn900=)
c.2512A= (p.Asn838=)
n.3108A=
c.2803A= (p.Asn935=)
c.2869A= (p.Asn957=)
c.2821A= (p.Asn941=)
c.2686A= (p.Asn896=)
16g.28835738A>CCA7985112ATXN2Lc.2875A>C (p.Asn959His)
c.850A>C (p.Asn284His)
n.3249A>C
c.70A>C (p.Asn24His)
c.2893A>C (p.Asn965His)
c.1939A>C (n.1939A>C)
c.144A>C
c.853A>C (p.Asn285His)
c.395A>C
c.2896A>C (p.Asn966His)
c.2878A>C (p.Asn960His)
c.2716A>C (p.Asn906His)
c.2824A>C (p.Asn942His)
c.2806A>C (p.Asn936His)
c.2530A>C (p.Asn844His)
n.3105A>C
c.2698A>C (p.Asn900His)
c.2512A>C (p.Asn838His)
n.3108A>C
c.2803A>C (p.Asn935His)
c.2869A>C (p.Asn957His)
c.2821A>C (p.Asn941His)
c.2686A>C (p.Asn896His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835738A>GCA395408599ATXN2Lc.2875A>G (p.Asn959Asp)
c.850A>G (p.Asn284Asp)
n.3249A>G
c.70A>G (p.Asn24Asp)
c.2893A>G (p.Asn965Asp)
c.1939A>G (n.1939A>G)
c.144A>G
c.853A>G (p.Asn285Asp)
c.395A>G
c.2896A>G (p.Asn966Asp)
c.2878A>G (p.Asn960Asp)
c.2716A>G (p.Asn906Asp)
c.2824A>G (p.Asn942Asp)
c.2806A>G (p.Asn936Asp)
c.2530A>G (p.Asn844Asp)
n.3105A>G
c.2698A>G (p.Asn900Asp)
c.2512A>G (p.Asn838Asp)
n.3108A>G
c.2803A>G (p.Asn935Asp)
c.2869A>G (p.Asn957Asp)
c.2821A>G (p.Asn941Asp)
c.2686A>G (p.Asn896Asp)
16g.28835738A>TCA395408601ATXN2Lc.2875A>T (p.Asn959Tyr)
c.850A>T (p.Asn284Tyr)
n.3249A>T
c.70A>T (p.Asn24Tyr)
c.2893A>T (p.Asn965Tyr)
c.1939A>T (n.1939A>T)
c.144A>T
c.853A>T (p.Asn285Tyr)
c.395A>T
c.2896A>T (p.Asn966Tyr)
c.2878A>T (p.Asn960Tyr)
c.2716A>T (p.Asn906Tyr)
c.2824A>T (p.Asn942Tyr)
c.2806A>T (p.Asn936Tyr)
c.2530A>T (p.Asn844Tyr)
n.3105A>T
c.2698A>T (p.Asn900Tyr)
c.2512A>T (p.Asn838Tyr)
n.3108A>T
c.2803A>T (p.Asn935Tyr)
c.2869A>T (p.Asn957Tyr)
c.2821A>T (p.Asn941Tyr)
c.2686A>T (p.Asn896Tyr)
16g.28835739A=CA2215806505ATXN2Lc.2876A= (p.Asn959=)
c.851A= (p.Asn284=)
n.3250A=
c.71A= (p.Asn24=)
c.2894A= (p.Asn965=)
c.1940A= (n.1940A=)
c.145A=
c.854A= (p.Asn285=)
c.396A=
c.2897A= (p.Asn966=)
c.2879A= (p.Asn960=)
c.2717A= (p.Asn906=)
c.2825A= (p.Asn942=)
c.2807A= (p.Asn936=)
c.2531A= (p.Asn844=)
n.3106A=
c.2699A= (p.Asn900=)
c.2513A= (p.Asn838=)
n.3109A=
c.2804A= (p.Asn935=)
c.2870A= (p.Asn957=)
c.2822A= (p.Asn941=)
c.2687A= (p.Asn896=)
16g.28835739A>CCA395408604ATXN2Lc.2876A>C (p.Asn959Thr)
c.851A>C (p.Asn284Thr)
n.3250A>C
c.71A>C (p.Asn24Thr)
c.2894A>C (p.Asn965Thr)
c.1940A>C (n.1940A>C)
c.145A>C
c.854A>C (p.Asn285Thr)
c.396A>C
c.2897A>C (p.Asn966Thr)
c.2879A>C (p.Asn960Thr)
c.2717A>C (p.Asn906Thr)
c.2825A>C (p.Asn942Thr)
c.2807A>C (p.Asn936Thr)
c.2531A>C (p.Asn844Thr)
n.3106A>C
c.2699A>C (p.Asn900Thr)
c.2513A>C (p.Asn838Thr)
n.3109A>C
c.2804A>C (p.Asn935Thr)
c.2870A>C (p.Asn957Thr)
c.2822A>C (p.Asn941Thr)
c.2687A>C (p.Asn896Thr)
 gnomAD v4
16g.28835739A>GCA7985113ATXN2Lc.2876A>G (p.Asn959Ser)
c.851A>G (p.Asn284Ser)
n.3250A>G
c.71A>G (p.Asn24Ser)
c.2894A>G (p.Asn965Ser)
c.1940A>G (n.1940A>G)
c.145A>G
c.854A>G (p.Asn285Ser)
c.396A>G
c.2897A>G (p.Asn966Ser)
c.2879A>G (p.Asn960Ser)
c.2717A>G (p.Asn906Ser)
c.2825A>G (p.Asn942Ser)
c.2807A>G (p.Asn936Ser)
c.2531A>G (p.Asn844Ser)
n.3106A>G
c.2699A>G (p.Asn900Ser)
c.2513A>G (p.Asn838Ser)
n.3109A>G
c.2804A>G (p.Asn935Ser)
c.2870A>G (p.Asn957Ser)
c.2822A>G (p.Asn941Ser)
c.2687A>G (p.Asn896Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835739A>TCA395408606ATXN2Lc.2876A>T (p.Asn959Ile)
c.851A>T (p.Asn284Ile)
n.3250A>T
c.71A>T (p.Asn24Ile)
c.2894A>T (p.Asn965Ile)
c.1940A>T (n.1940A>T)
c.145A>T
c.854A>T (p.Asn285Ile)
c.396A>T
c.2897A>T (p.Asn966Ile)
c.2879A>T (p.Asn960Ile)
c.2717A>T (p.Asn906Ile)
c.2825A>T (p.Asn942Ile)
c.2807A>T (p.Asn936Ile)
c.2531A>T (p.Asn844Ile)
n.3106A>T
c.2699A>T (p.Asn900Ile)
c.2513A>T (p.Asn838Ile)
n.3109A>T
c.2804A>T (p.Asn935Ile)
c.2870A>T (p.Asn957Ile)
c.2822A>T (p.Asn941Ile)
c.2687A>T (p.Asn896Ile)
16g.28835740C>ACA395408608ATXN2Lc.2877C>A (p.Asn959Lys)
c.852C>A (p.Asn284Lys)
n.3251C>A
c.72C>A (p.Asn24Lys)
c.2895C>A (p.Asn965Lys)
c.1941C>A (n.1941C>A)
c.146C>A
c.855C>A (p.Asn285Lys)
c.397C>A
c.2898C>A (p.Asn966Lys)
c.2880C>A (p.Asn960Lys)
c.2718C>A (p.Asn906Lys)
c.2826C>A (p.Asn942Lys)
c.2808C>A (p.Asn936Lys)
c.2532C>A (p.Asn844Lys)
n.3107C>A
c.2700C>A (p.Asn900Lys)
c.2514C>A (p.Asn838Lys)
n.3110C>A
c.2805C>A (p.Asn935Lys)
c.2871C>A (p.Asn957Lys)
c.2823C>A (p.Asn941Lys)
c.2688C>A (p.Asn896Lys)
16g.28835740C>GCA395408609ATXN2Lc.2877C>G (p.Asn959Lys)
c.852C>G (p.Asn284Lys)
n.3251C>G
c.72C>G (p.Asn24Lys)
c.2895C>G (p.Asn965Lys)
c.1941C>G (n.1941C>G)
c.146C>G
c.855C>G (p.Asn285Lys)
c.397C>G
c.2898C>G (p.Asn966Lys)
c.2880C>G (p.Asn960Lys)
c.2718C>G (p.Asn906Lys)
c.2826C>G (p.Asn942Lys)
c.2808C>G (p.Asn936Lys)
c.2532C>G (p.Asn844Lys)
n.3107C>G
c.2700C>G (p.Asn900Lys)
c.2514C>G (p.Asn838Lys)
n.3110C>G
c.2805C>G (p.Asn935Lys)
c.2871C>G (p.Asn957Lys)
c.2823C>G (p.Asn941Lys)
c.2688C>G (p.Asn896Lys)
16g.28835740C>TCA494869493ATXN2Lc.2877C>T (p.Asn959=)
c.852C>T (p.Asn284=)
n.3251C>T
c.72C>T (p.Asn24=)
c.2895C>T (p.Asn965=)
c.1941C>T (n.1941C>T)
c.146C>T
c.855C>T (p.Asn285=)
c.397C>T
c.2898C>T (p.Asn966=)
c.2880C>T (p.Asn960=)
c.2718C>T (p.Asn906=)
c.2826C>T (p.Asn942=)
c.2808C>T (p.Asn936=)
c.2532C>T (p.Asn844=)
n.3107C>T
c.2700C>T (p.Asn900=)
c.2514C>T (p.Asn838=)
n.3110C>T
c.2805C>T (p.Asn935=)
c.2871C>T (p.Asn957=)
c.2823C>T (p.Asn941=)
c.2688C>T (p.Asn896=)
 gnomAD v4
16g.28835741A=CA2215806512ATXN2Lc.2878A= (p.Met960=)
c.853A= (p.Met285=)
n.3252A=
c.73A= (p.Met25=)
c.2896A= (p.Met966=)
c.1942A= (n.1942A=)
c.147A=
c.856A= (p.Met286=)
c.398A=
c.2899A= (p.Met967=)
c.2881A= (p.Met961=)
c.2719A= (p.Met907=)
c.2827A= (p.Met943=)
c.2809A= (p.Met937=)
c.2533A= (p.Met845=)
n.3108A=
c.2701A= (p.Met901=)
c.2515A= (p.Met839=)
n.3111A=
c.2806A= (p.Met936=)
c.2872A= (p.Met958=)
c.2824A= (p.Met942=)
c.2689A= (p.Met897=)
16g.28835741A>CCA395408614ATXN2Lc.2878A>C (p.Met960Leu)
c.853A>C (p.Met285Leu)
n.3252A>C
c.73A>C (p.Met25Leu)
c.2896A>C (p.Met966Leu)
c.1942A>C (n.1942A>C)
c.147A>C
c.856A>C (p.Met286Leu)
c.398A>C
c.2899A>C (p.Met967Leu)
c.2881A>C (p.Met961Leu)
c.2719A>C (p.Met907Leu)
c.2827A>C (p.Met943Leu)
c.2809A>C (p.Met937Leu)
c.2533A>C (p.Met845Leu)
n.3108A>C
c.2701A>C (p.Met901Leu)
c.2515A>C (p.Met839Leu)
n.3111A>C
c.2806A>C (p.Met936Leu)
c.2872A>C (p.Met958Leu)
c.2824A>C (p.Met942Leu)
c.2689A>C (p.Met897Leu)
16g.28835741A>GCA7985114ATXN2Lc.2878A>G (p.Met960Val)
c.853A>G (p.Met285Val)
n.3252A>G
c.73A>G (p.Met25Val)
c.2896A>G (p.Met966Val)
c.1942A>G (n.1942A>G)
c.147A>G
c.856A>G (p.Met286Val)
c.398A>G
c.2899A>G (p.Met967Val)
c.2881A>G (p.Met961Val)
c.2719A>G (p.Met907Val)
c.2827A>G (p.Met943Val)
c.2809A>G (p.Met937Val)
c.2533A>G (p.Met845Val)
n.3108A>G
c.2701A>G (p.Met901Val)
c.2515A>G (p.Met839Val)
n.3111A>G
c.2806A>G (p.Met936Val)
c.2872A>G (p.Met958Val)
c.2824A>G (p.Met942Val)
c.2689A>G (p.Met897Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835741A>TCA395408611ATXN2Lc.2878A>T (p.Met960Leu)
c.853A>T (p.Met285Leu)
n.3252A>T
c.73A>T (p.Met25Leu)
c.2896A>T (p.Met966Leu)
c.1942A>T (n.1942A>T)
c.147A>T
c.856A>T (p.Met286Leu)
c.398A>T
c.2899A>T (p.Met967Leu)
c.2881A>T (p.Met961Leu)
c.2719A>T (p.Met907Leu)
c.2827A>T (p.Met943Leu)
c.2809A>T (p.Met937Leu)
c.2533A>T (p.Met845Leu)
n.3108A>T
c.2701A>T (p.Met901Leu)
c.2515A>T (p.Met839Leu)
n.3111A>T
c.2806A>T (p.Met936Leu)
c.2872A>T (p.Met958Leu)
c.2824A>T (p.Met942Leu)
c.2689A>T (p.Met897Leu)
 dbSNP gnomAD v2
16g.28835742T>ACA395408616ATXN2Lc.2879T>A (p.Met960Lys)
c.854T>A (p.Met285Lys)
n.3253T>A
c.74T>A (p.Met25Lys)
c.2897T>A (p.Met966Lys)
c.1943T>A (n.1943T>A)
c.148T>A
c.857T>A (p.Met286Lys)
c.399T>A
c.2900T>A (p.Met967Lys)
c.2882T>A (p.Met961Lys)
c.2720T>A (p.Met907Lys)
c.2828T>A (p.Met943Lys)
c.2810T>A (p.Met937Lys)
c.2534T>A (p.Met845Lys)
n.3109T>A
c.2702T>A (p.Met901Lys)
c.2516T>A (p.Met839Lys)
n.3112T>A
c.2807T>A (p.Met936Lys)
c.2873T>A (p.Met958Lys)
c.2825T>A (p.Met942Lys)
c.2690T>A (p.Met897Lys)
16g.28835742T>CCA395408618ATXN2Lc.2879T>C (p.Met960Thr)
c.854T>C (p.Met285Thr)
n.3253T>C
c.74T>C (p.Met25Thr)
c.2897T>C (p.Met966Thr)
c.1943T>C (n.1943T>C)
c.148T>C
c.857T>C (p.Met286Thr)
c.399T>C
c.2900T>C (p.Met967Thr)
c.2882T>C (p.Met961Thr)
c.2720T>C (p.Met907Thr)
c.2828T>C (p.Met943Thr)
c.2810T>C (p.Met937Thr)
c.2534T>C (p.Met845Thr)
n.3109T>C
c.2702T>C (p.Met901Thr)
c.2516T>C (p.Met839Thr)
n.3112T>C
c.2807T>C (p.Met936Thr)
c.2873T>C (p.Met958Thr)
c.2825T>C (p.Met942Thr)
c.2690T>C (p.Met897Thr)
16g.28835742T>GCA395408620ATXN2Lc.2879T>G (p.Met960Arg)
c.854T>G (p.Met285Arg)
n.3253T>G
c.74T>G (p.Met25Arg)
c.2897T>G (p.Met966Arg)
c.1943T>G (n.1943T>G)
c.148T>G
c.857T>G (p.Met286Arg)
c.399T>G
c.2900T>G (p.Met967Arg)
c.2882T>G (p.Met961Arg)
c.2720T>G (p.Met907Arg)
c.2828T>G (p.Met943Arg)
c.2810T>G (p.Met937Arg)
c.2534T>G (p.Met845Arg)
n.3109T>G
c.2702T>G (p.Met901Arg)
c.2516T>G (p.Met839Arg)
n.3112T>G
c.2807T>G (p.Met936Arg)
c.2873T>G (p.Met958Arg)
c.2825T>G (p.Met942Arg)
c.2690T>G (p.Met897Arg)
16g.28835743G>ACA395408621ATXN2Lc.2880G>A (p.Met960Ile)
c.855G>A (p.Met285Ile)
n.3254G>A
c.75G>A (p.Met25Ile)
c.2898G>A (p.Met966Ile)
c.1944G>A (n.1944G>A)
c.149G>A
c.858G>A (p.Met286Ile)
c.400G>A
c.2901G>A (p.Met967Ile)
c.2883G>A (p.Met961Ile)
c.2721G>A (p.Met907Ile)
c.2829G>A (p.Met943Ile)
c.2811G>A (p.Met937Ile)
c.2535G>A (p.Met845Ile)
n.3110G>A
c.2703G>A (p.Met901Ile)
c.2517G>A (p.Met839Ile)
n.3113G>A
c.2808G>A (p.Met936Ile)
c.2874G>A (p.Met958Ile)
c.2826G>A (p.Met942Ile)
c.2691G>A (p.Met897Ile)
16g.28835743G>CCA395408623ATXN2Lc.2880G>C (p.Met960Ile)
c.855G>C (p.Met285Ile)
n.3254G>C
c.75G>C (p.Met25Ile)
c.2898G>C (p.Met966Ile)
c.1944G>C (n.1944G>C)
c.149G>C
c.858G>C (p.Met286Ile)
c.400G>C
c.2901G>C (p.Met967Ile)
c.2883G>C (p.Met961Ile)
c.2721G>C (p.Met907Ile)
c.2829G>C (p.Met943Ile)
c.2811G>C (p.Met937Ile)
c.2535G>C (p.Met845Ile)
n.3110G>C
c.2703G>C (p.Met901Ile)
c.2517G>C (p.Met839Ile)
n.3113G>C
c.2808G>C (p.Met936Ile)
c.2874G>C (p.Met958Ile)
c.2826G>C (p.Met942Ile)
c.2691G>C (p.Met897Ile)
16g.28835743G=CA2215806519ATXN2Lc.2880G= (p.Met960=)
c.855G= (p.Met285=)
n.3254G=
c.75G= (p.Met25=)
c.2898G= (p.Met966=)
c.1944G= (n.1944G=)
c.149G=
c.858G= (p.Met286=)
c.400G=
c.2901G= (p.Met967=)
c.2883G= (p.Met961=)
c.2721G= (p.Met907=)
c.2829G= (p.Met943=)
c.2811G= (p.Met937=)
c.2535G= (p.Met845=)
n.3110G=
c.2703G= (p.Met901=)
c.2517G= (p.Met839=)
n.3113G=
c.2808G= (p.Met936=)
c.2874G= (p.Met958=)
c.2826G= (p.Met942=)
c.2691G= (p.Met897=)
16g.28835743G>TCA395408625ATXN2Lc.2880G>T (p.Met960Ile)
c.855G>T (p.Met285Ile)
n.3254G>T
c.75G>T (p.Met25Ile)
c.2898G>T (p.Met966Ile)
c.1944G>T (n.1944G>T)
c.149G>T
c.858G>T (p.Met286Ile)
c.400G>T
c.2901G>T (p.Met967Ile)
c.2883G>T (p.Met961Ile)
c.2721G>T (p.Met907Ile)
c.2829G>T (p.Met943Ile)
c.2811G>T (p.Met937Ile)
c.2535G>T (p.Met845Ile)
n.3110G>T
c.2703G>T (p.Met901Ile)
c.2517G>T (p.Met839Ile)
n.3113G>T
c.2808G>T (p.Met936Ile)
c.2874G>T (p.Met958Ile)
c.2826G>T (p.Met942Ile)
c.2691G>T (p.Met897Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.28835744G>ACA395408626ATXN2Lc.2881G>A (p.Ala961Thr)
c.856G>A (p.Ala286Thr)
n.3255G>A
c.76G>A (p.Ala26Thr)
c.2899G>A (p.Ala967Thr)
c.1945G>A (n.1945G>A)
c.150G>A
c.859G>A (p.Ala287Thr)
c.401G>A
c.2902G>A (p.Ala968Thr)
c.2884G>A (p.Ala962Thr)
c.2722G>A (p.Ala908Thr)
c.2830G>A (p.Ala944Thr)
c.2812G>A (p.Ala938Thr)
c.2536G>A (p.Ala846Thr)
n.3111G>A
c.2704G>A (p.Ala902Thr)
c.2518G>A (p.Ala840Thr)
n.3114G>A
c.2809G>A (p.Ala937Thr)
c.2875G>A (p.Ala959Thr)
c.2827G>A (p.Ala943Thr)
c.2692G>A (p.Ala898Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.28835744G>CCA395408627ATXN2Lc.2881G>C (p.Ala961Pro)
c.856G>C (p.Ala286Pro)
n.3255G>C
c.76G>C (p.Ala26Pro)
c.2899G>C (p.Ala967Pro)
c.1945G>C (n.1945G>C)
c.150G>C
c.859G>C (p.Ala287Pro)
c.401G>C
c.2902G>C (p.Ala968Pro)
c.2884G>C (p.Ala962Pro)
c.2722G>C (p.Ala908Pro)
c.2830G>C (p.Ala944Pro)
c.2812G>C (p.Ala938Pro)
c.2536G>C (p.Ala846Pro)
n.3111G>C
c.2704G>C (p.Ala902Pro)
c.2518G>C (p.Ala840Pro)
n.3114G>C
c.2809G>C (p.Ala937Pro)
c.2875G>C (p.Ala959Pro)
c.2827G>C (p.Ala943Pro)
c.2692G>C (p.Ala898Pro)
16g.28835744G=CA2215806522ATXN2Lc.2881G= (p.Ala961=)
c.856G= (p.Ala286=)
n.3255G=
c.76G= (p.Ala26=)
c.2899G= (p.Ala967=)
c.1945G= (n.1945G=)
c.150G=
c.859G= (p.Ala287=)
c.401G=
c.2902G= (p.Ala968=)
c.2884G= (p.Ala962=)
c.2722G= (p.Ala908=)
c.2830G= (p.Ala944=)
c.2812G= (p.Ala938=)
c.2536G= (p.Ala846=)
n.3111G=
c.2704G= (p.Ala902=)
c.2518G= (p.Ala840=)
n.3114G=
c.2809G= (p.Ala937=)
c.2875G= (p.Ala959=)
c.2827G= (p.Ala943=)
c.2692G= (p.Ala898=)
16g.28835744G>TCA395408628ATXN2Lc.2881G>T (p.Ala961Ser)
c.856G>T (p.Ala286Ser)
n.3255G>T
c.76G>T (p.Ala26Ser)
c.2899G>T (p.Ala967Ser)
c.1945G>T (n.1945G>T)
c.150G>T
c.859G>T (p.Ala287Ser)
c.401G>T
c.2902G>T (p.Ala968Ser)
c.2884G>T (p.Ala962Ser)
c.2722G>T (p.Ala908Ser)
c.2830G>T (p.Ala944Ser)
c.2812G>T (p.Ala938Ser)
c.2536G>T (p.Ala846Ser)
n.3111G>T
c.2704G>T (p.Ala902Ser)
c.2518G>T (p.Ala840Ser)
n.3114G>T
c.2809G>T (p.Ala937Ser)
c.2875G>T (p.Ala959Ser)
c.2827G>T (p.Ala943Ser)
c.2692G>T (p.Ala898Ser)
16g.28835745C>ACA395408630ATXN2Lc.2882C>A (p.Ala961Asp)
c.857C>A (p.Ala286Asp)
n.3256C>A
c.77C>A (p.Ala26Asp)
c.2900C>A (p.Ala967Asp)
c.1946C>A (n.1946C>A)
c.151C>A
c.860C>A (p.Ala287Asp)
c.402C>A
c.2903C>A (p.Ala968Asp)
c.2885C>A (p.Ala962Asp)
c.2723C>A (p.Ala908Asp)
c.2831C>A (p.Ala944Asp)
c.2813C>A (p.Ala938Asp)
c.2537C>A (p.Ala846Asp)
n.3112C>A
c.2705C>A (p.Ala902Asp)
c.2519C>A (p.Ala840Asp)
n.3115C>A
c.2810C>A (p.Ala937Asp)
c.2876C>A (p.Ala959Asp)
c.2828C>A (p.Ala943Asp)
c.2693C>A (p.Ala898Asp)
16g.28835745C>GCA395408632ATXN2Lc.2882C>G (p.Ala961Gly)
c.857C>G (p.Ala286Gly)
n.3256C>G
c.77C>G (p.Ala26Gly)
c.2900C>G (p.Ala967Gly)
c.1946C>G (n.1946C>G)
c.151C>G
c.860C>G (p.Ala287Gly)
c.402C>G
c.2903C>G (p.Ala968Gly)
c.2885C>G (p.Ala962Gly)
c.2723C>G (p.Ala908Gly)
c.2831C>G (p.Ala944Gly)
c.2813C>G (p.Ala938Gly)
c.2537C>G (p.Ala846Gly)
n.3112C>G
c.2705C>G (p.Ala902Gly)
c.2519C>G (p.Ala840Gly)
n.3115C>G
c.2810C>G (p.Ala937Gly)
c.2876C>G (p.Ala959Gly)
c.2828C>G (p.Ala943Gly)
c.2693C>G (p.Ala898Gly)
16g.28835745C>TCA395408634ATXN2Lc.2882C>T (p.Ala961Val)
c.857C>T (p.Ala286Val)
n.3256C>T
c.77C>T (p.Ala26Val)
c.2900C>T (p.Ala967Val)
c.1946C>T (n.1946C>T)
c.151C>T
c.860C>T (p.Ala287Val)
c.402C>T
c.2903C>T (p.Ala968Val)
c.2885C>T (p.Ala962Val)
c.2723C>T (p.Ala908Val)
c.2831C>T (p.Ala944Val)
c.2813C>T (p.Ala938Val)
c.2537C>T (p.Ala846Val)
n.3112C>T
c.2705C>T (p.Ala902Val)
c.2519C>T (p.Ala840Val)
n.3115C>T
c.2810C>T (p.Ala937Val)
c.2876C>T (p.Ala959Val)
c.2828C>T (p.Ala943Val)
c.2693C>T (p.Ala898Val)
16g.28835746C>ACA494869512ATXN2Lc.2883C>A (p.Ala961=)
c.858C>A (p.Ala286=)
n.3257C>A
c.78C>A (p.Ala26=)
c.2901C>A (p.Ala967=)
c.1947C>A (n.1947C>A)
c.152C>A
c.861C>A (p.Ala287=)
c.403C>A
c.2904C>A (p.Ala968=)
c.2886C>A (p.Ala962=)
c.2724C>A (p.Ala908=)
c.2832C>A (p.Ala944=)
c.2814C>A (p.Ala938=)
c.2538C>A (p.Ala846=)
n.3113C>A
c.2706C>A (p.Ala902=)
c.2520C>A (p.Ala840=)
n.3116C>A
c.2811C>A (p.Ala937=)
c.2877C>A (p.Ala959=)
c.2829C>A (p.Ala943=)
c.2694C>A (p.Ala898=)
16g.28835746C=CA2215806526ATXN2Lc.2883C= (p.Ala961=)
c.858C= (p.Ala286=)
n.3257C=
c.78C= (p.Ala26=)
c.2901C= (p.Ala967=)
c.1947C= (n.1947C=)
c.152C=
c.861C= (p.Ala287=)
c.403C=
c.2904C= (p.Ala968=)
c.2886C= (p.Ala962=)
c.2724C= (p.Ala908=)
c.2832C= (p.Ala944=)
c.2814C= (p.Ala938=)
c.2538C= (p.Ala846=)
n.3113C=
c.2706C= (p.Ala902=)
c.2520C= (p.Ala840=)
n.3116C=
c.2811C= (p.Ala937=)
c.2877C= (p.Ala959=)
c.2829C= (p.Ala943=)
c.2694C= (p.Ala898=)
16g.28835746C>GCA494869514ATXN2Lc.2883C>G (p.Ala961=)
c.858C>G (p.Ala286=)
n.3257C>G
c.78C>G (p.Ala26=)
c.2901C>G (p.Ala967=)
c.1947C>G (n.1947C>G)
c.152C>G
c.861C>G (p.Ala287=)
c.403C>G
c.2904C>G (p.Ala968=)
c.2886C>G (p.Ala962=)
c.2724C>G (p.Ala908=)
c.2832C>G (p.Ala944=)
c.2814C>G (p.Ala938=)
c.2538C>G (p.Ala846=)
n.3113C>G
c.2706C>G (p.Ala902=)
c.2520C>G (p.Ala840=)
n.3116C>G
c.2811C>G (p.Ala937=)
c.2877C>G (p.Ala959=)
c.2829C>G (p.Ala943=)
c.2694C>G (p.Ala898=)
16g.28835746C>TCA494869517ATXN2Lc.2883C>T (p.Ala961=)
c.858C>T (p.Ala286=)
n.3257C>T
c.78C>T (p.Ala26=)
c.2901C>T (p.Ala967=)
c.1947C>T (n.1947C>T)
c.152C>T
c.861C>T (p.Ala287=)
c.403C>T
c.2904C>T (p.Ala968=)
c.2886C>T (p.Ala962=)
c.2724C>T (p.Ala908=)
c.2832C>T (p.Ala944=)
c.2814C>T (p.Ala938=)
c.2538C>T (p.Ala846=)
n.3113C>T
c.2706C>T (p.Ala902=)
c.2520C>T (p.Ala840=)
n.3116C>T
c.2811C>T (p.Ala937=)
c.2877C>T (p.Ala959=)
c.2829C>T (p.Ala943=)
c.2694C>T (p.Ala898=)
 dbSNP
16g.28835747C>ACA395408638ATXN2Lc.2884C>A (p.His962Asn)
c.859C>A (p.His287Asn)
n.3258C>A
c.79C>A (p.His27Asn)
c.2902C>A (p.His968Asn)
c.1948C>A (n.1948C>A)
c.153C>A
c.862C>A (p.His288Asn)
c.404C>A
c.2905C>A (p.His969Asn)
c.2887C>A (p.His963Asn)
c.2725C>A (p.His909Asn)
c.2833C>A (p.His945Asn)
c.2815C>A (p.His939Asn)
c.2539C>A (p.His847Asn)
n.3114C>A
c.2707C>A (p.His903Asn)
c.2521C>A (p.His841Asn)
n.3117C>A
c.2812C>A (p.His938Asn)
c.2878C>A (p.His960Asn)
c.2830C>A (p.His944Asn)
c.2695C>A (p.His899Asn)
16g.28835747C=CA2215806530ATXN2Lc.2884C= (p.His962=)
c.859C= (p.His287=)
n.3258C=
c.79C= (p.His27=)
c.2902C= (p.His968=)
c.1948C= (n.1948C=)
c.153C=
c.862C= (p.His288=)
c.404C=
c.2905C= (p.His969=)
c.2887C= (p.His963=)
c.2725C= (p.His909=)
c.2833C= (p.His945=)
c.2815C= (p.His939=)
c.2539C= (p.His847=)
n.3114C=
c.2707C= (p.His903=)
c.2521C= (p.His841=)
n.3117C=
c.2812C= (p.His938=)
c.2878C= (p.His960=)
c.2830C= (p.His944=)
c.2695C= (p.His899=)
16g.28835747C>GCA395408640ATXN2Lc.2884C>G (p.His962Asp)
c.859C>G (p.His287Asp)
n.3258C>G
c.79C>G (p.His27Asp)
c.2902C>G (p.His968Asp)
c.1948C>G (n.1948C>G)
c.153C>G
c.862C>G (p.His288Asp)
c.404C>G
c.2905C>G (p.His969Asp)
c.2887C>G (p.His963Asp)
c.2725C>G (p.His909Asp)
c.2833C>G (p.His945Asp)
c.2815C>G (p.His939Asp)
c.2539C>G (p.His847Asp)
n.3114C>G
c.2707C>G (p.His903Asp)
c.2521C>G (p.His841Asp)
n.3117C>G
c.2812C>G (p.His938Asp)
c.2878C>G (p.His960Asp)
c.2830C>G (p.His944Asp)
c.2695C>G (p.His899Asp)
16g.28835747C>TCA395408636ATXN2Lc.2884C>T (p.His962Tyr)
c.859C>T (p.His287Tyr)
n.3258C>T
c.79C>T (p.His27Tyr)
c.2902C>T (p.His968Tyr)
c.1948C>T (n.1948C>T)
c.153C>T
c.862C>T (p.His288Tyr)
c.404C>T
c.2905C>T (p.His969Tyr)
c.2887C>T (p.His963Tyr)
c.2725C>T (p.His909Tyr)
c.2833C>T (p.His945Tyr)
c.2815C>T (p.His939Tyr)
c.2539C>T (p.His847Tyr)
n.3114C>T
c.2707C>T (p.His903Tyr)
c.2521C>T (p.His841Tyr)
n.3117C>T
c.2812C>T (p.His938Tyr)
c.2878C>T (p.His960Tyr)
c.2830C>T (p.His944Tyr)
c.2695C>T (p.His899Tyr)
 dbSNP gnomAD v2 gnomAD v4
16g.28835748A>CCA395408642ATXN2Lc.2885A>C (p.His962Pro)
c.860A>C (p.His287Pro)
n.3259A>C
c.80A>C (p.His27Pro)
c.2903A>C (p.His968Pro)
c.1949A>C (n.1949A>C)
c.154A>C
c.863A>C (p.His288Pro)
c.405A>C
c.2906A>C (p.His969Pro)
c.2888A>C (p.His963Pro)
c.2726A>C (p.His909Pro)
c.2834A>C (p.His945Pro)
c.2816A>C (p.His939Pro)
c.2540A>C (p.His847Pro)
n.3115A>C
c.2708A>C (p.His903Pro)
c.2522A>C (p.His841Pro)
n.3118A>C
c.2813A>C (p.His938Pro)
c.2879A>C (p.His960Pro)
c.2831A>C (p.His944Pro)
c.2696A>C (p.His899Pro)
16g.28835748A>GCA395408643ATXN2Lc.2885A>G (p.His962Arg)
c.860A>G (p.His287Arg)
n.3259A>G
c.80A>G (p.His27Arg)
c.2903A>G (p.His968Arg)
c.1949A>G (n.1949A>G)
c.154A>G
c.863A>G (p.His288Arg)
c.405A>G
c.2906A>G (p.His969Arg)
c.2888A>G (p.His963Arg)
c.2726A>G (p.His909Arg)
c.2834A>G (p.His945Arg)
c.2816A>G (p.His939Arg)
c.2540A>G (p.His847Arg)
n.3115A>G
c.2708A>G (p.His903Arg)
c.2522A>G (p.His841Arg)
n.3118A>G
c.2813A>G (p.His938Arg)
c.2879A>G (p.His960Arg)
c.2831A>G (p.His944Arg)
c.2696A>G (p.His899Arg)
 gnomAD v4
16g.28835748A>TCA395408644ATXN2Lc.2885A>T (p.His962Leu)
c.860A>T (p.His287Leu)
n.3259A>T
c.80A>T (p.His27Leu)
c.2903A>T (p.His968Leu)
c.1949A>T (n.1949A>T)
c.154A>T
c.863A>T (p.His288Leu)
c.405A>T
c.2906A>T (p.His969Leu)
c.2888A>T (p.His963Leu)
c.2726A>T (p.His909Leu)
c.2834A>T (p.His945Leu)
c.2816A>T (p.His939Leu)
c.2540A>T (p.His847Leu)
n.3115A>T
c.2708A>T (p.His903Leu)
c.2522A>T (p.His841Leu)
n.3118A>T
c.2813A>T (p.His938Leu)
c.2879A>T (p.His960Leu)
c.2831A>T (p.His944Leu)
c.2696A>T (p.His899Leu)
16g.28835749T>ACA395408645ATXN2Lc.2886T>A (p.His962Gln)
c.861T>A (p.His287Gln)
n.3260T>A
c.81T>A (p.His27Gln)
c.2904T>A (p.His968Gln)
c.1950T>A (n.1950T>A)
c.155T>A
c.864T>A (p.His288Gln)
c.406T>A
c.2907T>A (p.His969Gln)
c.2889T>A (p.His963Gln)
c.2727T>A (p.His909Gln)
c.2835T>A (p.His945Gln)
c.2817T>A (p.His939Gln)
c.2541T>A (p.His847Gln)
n.3116T>A
c.2709T>A (p.His903Gln)
c.2523T>A (p.His841Gln)
n.3119T>A
c.2814T>A (p.His938Gln)
c.2880T>A (p.His960Gln)
c.2832T>A (p.His944Gln)
c.2697T>A (p.His899Gln)
16g.28835749T>CCA494869527ATXN2Lc.2886T>C (p.His962=)
c.861T>C (p.His287=)
n.3260T>C
c.81T>C (p.His27=)
c.2904T>C (p.His968=)
c.1950T>C (n.1950T>C)
c.155T>C
c.864T>C (p.His288=)
c.406T>C
c.2907T>C (p.His969=)
c.2889T>C (p.His963=)
c.2727T>C (p.His909=)
c.2835T>C (p.His945=)
c.2817T>C (p.His939=)
c.2541T>C (p.His847=)
n.3116T>C
c.2709T>C (p.His903=)
c.2523T>C (p.His841=)
n.3119T>C
c.2814T>C (p.His938=)
c.2880T>C (p.His960=)
c.2832T>C (p.His944=)
c.2697T>C (p.His899=)
 gnomAD v4
16g.28835749T>GCA395408647ATXN2Lc.2886T>G (p.His962Gln)
c.861T>G (p.His287Gln)
n.3260T>G
c.81T>G (p.His27Gln)
c.2904T>G (p.His968Gln)
c.1950T>G (n.1950T>G)
c.155T>G
c.864T>G (p.His288Gln)
c.406T>G
c.2907T>G (p.His969Gln)
c.2889T>G (p.His963Gln)
c.2727T>G (p.His909Gln)
c.2835T>G (p.His945Gln)
c.2817T>G (p.His939Gln)
c.2541T>G (p.His847Gln)
n.3116T>G
c.2709T>G (p.His903Gln)
c.2523T>G (p.His841Gln)
n.3119T>G
c.2814T>G (p.His938Gln)
c.2880T>G (p.His960Gln)
c.2832T>G (p.His944Gln)
c.2697T>G (p.His899Gln)
16g.28835750G>ACA395408650ATXN2Lc.2887G>A (p.Val963Ile)
c.862G>A (p.Val288Ile)
n.3261G>A
c.82G>A (p.Val28Ile)
c.2905G>A (p.Val969Ile)
c.1951G>A (n.1951G>A)
c.156G>A
c.865G>A (p.Val289Ile)
c.407G>A
c.2908G>A (p.Val970Ile)
c.2890G>A (p.Val964Ile)
c.2728G>A (p.Val910Ile)
c.2836G>A (p.Val946Ile)
c.2818G>A (p.Val940Ile)
c.2542G>A (p.Val848Ile)
n.3117G>A
c.2710G>A (p.Val904Ile)
c.2524G>A (p.Val842Ile)
n.3120G>A
c.2815G>A (p.Val939Ile)
c.2881G>A (p.Val961Ile)
c.2833G>A (p.Val945Ile)
c.2698G>A (p.Val900Ile)
16g.28835750G>CCA395408648ATXN2Lc.2887G>C (p.Val963Leu)
c.862G>C (p.Val288Leu)
n.3261G>C
c.82G>C (p.Val28Leu)
c.2905G>C (p.Val969Leu)
c.1951G>C (n.1951G>C)
c.156G>C
c.865G>C (p.Val289Leu)
c.407G>C
c.2908G>C (p.Val970Leu)
c.2890G>C (p.Val964Leu)
c.2728G>C (p.Val910Leu)
c.2836G>C (p.Val946Leu)
c.2818G>C (p.Val940Leu)
c.2542G>C (p.Val848Leu)
n.3117G>C
c.2710G>C (p.Val904Leu)
c.2524G>C (p.Val842Leu)
n.3120G>C
c.2815G>C (p.Val939Leu)
c.2881G>C (p.Val961Leu)
c.2833G>C (p.Val945Leu)
c.2698G>C (p.Val900Leu)
16g.28835750G>TCA395408649ATXN2Lc.2887G>T (p.Val963Phe)
c.862G>T (p.Val288Phe)
n.3261G>T
c.82G>T (p.Val28Phe)
c.2905G>T (p.Val969Phe)
c.1951G>T (n.1951G>T)
c.156G>T
c.865G>T (p.Val289Phe)
c.407G>T
c.2908G>T (p.Val970Phe)
c.2890G>T (p.Val964Phe)
c.2728G>T (p.Val910Phe)
c.2836G>T (p.Val946Phe)
c.2818G>T (p.Val940Phe)
c.2542G>T (p.Val848Phe)
n.3117G>T
c.2710G>T (p.Val904Phe)
c.2524G>T (p.Val842Phe)
n.3120G>T
c.2815G>T (p.Val939Phe)
c.2881G>T (p.Val961Phe)
c.2833G>T (p.Val945Phe)
c.2698G>T (p.Val900Phe)
16g.28835751T>ACA395408652ATXN2Lc.2888T>A (p.Val963Asp)
c.863T>A (p.Val288Asp)
n.3262T>A
c.83T>A (p.Val28Asp)
c.2906T>A (p.Val969Asp)
c.1952T>A (n.1952T>A)
c.157T>A
c.866T>A (p.Val289Asp)
c.408T>A
c.2909T>A (p.Val970Asp)
c.2891T>A (p.Val964Asp)
c.2729T>A (p.Val910Asp)
c.2837T>A (p.Val946Asp)
c.2819T>A (p.Val940Asp)
c.2543T>A (p.Val848Asp)
n.3118T>A
c.2711T>A (p.Val904Asp)
c.2525T>A (p.Val842Asp)
n.3121T>A
c.2816T>A (p.Val939Asp)
c.2882T>A (p.Val961Asp)
c.2834T>A (p.Val945Asp)
c.2699T>A (p.Val900Asp)
16g.28835751T>CCA395408654ATXN2Lc.2888T>C (p.Val963Ala)
c.863T>C (p.Val288Ala)
n.3262T>C
c.83T>C (p.Val28Ala)
c.2906T>C (p.Val969Ala)
c.1952T>C (n.1952T>C)
c.157T>C
c.866T>C (p.Val289Ala)
c.408T>C
c.2909T>C (p.Val970Ala)
c.2891T>C (p.Val964Ala)
c.2729T>C (p.Val910Ala)
c.2837T>C (p.Val946Ala)
c.2819T>C (p.Val940Ala)
c.2543T>C (p.Val848Ala)
n.3118T>C
c.2711T>C (p.Val904Ala)
c.2525T>C (p.Val842Ala)
n.3121T>C
c.2816T>C (p.Val939Ala)
c.2882T>C (p.Val961Ala)
c.2834T>C (p.Val945Ala)
c.2699T>C (p.Val900Ala)
16g.28835751T>GCA395408656ATXN2Lc.2888T>G (p.Val963Gly)
c.863T>G (p.Val288Gly)
n.3262T>G
c.83T>G (p.Val28Gly)
c.2906T>G (p.Val969Gly)
c.1952T>G (n.1952T>G)
c.157T>G
c.866T>G (p.Val289Gly)
c.408T>G
c.2909T>G (p.Val970Gly)
c.2891T>G (p.Val964Gly)
c.2729T>G (p.Val910Gly)
c.2837T>G (p.Val946Gly)
c.2819T>G (p.Val940Gly)
c.2543T>G (p.Val848Gly)
n.3118T>G
c.2711T>G (p.Val904Gly)
c.2525T>G (p.Val842Gly)
n.3121T>G
c.2816T>G (p.Val939Gly)
c.2882T>G (p.Val961Gly)
c.2834T>G (p.Val945Gly)
c.2699T>G (p.Val900Gly)
16g.28835752T>ACA494869537ATXN2Lc.2889T>A (p.Val963=)
c.864T>A (p.Val288=)
n.3263T>A
c.84T>A (p.Val28=)
c.2907T>A (p.Val969=)
c.1953T>A (n.1953T>A)
c.158T>A
c.867T>A (p.Val289=)
c.409T>A
c.2910T>A (p.Val970=)
c.2892T>A (p.Val964=)
c.2730T>A (p.Val910=)
c.2838T>A (p.Val946=)
c.2820T>A (p.Val940=)
c.2544T>A (p.Val848=)
n.3119T>A
c.2712T>A (p.Val904=)
c.2526T>A (p.Val842=)
n.3122T>A
c.2817T>A (p.Val939=)
c.2883T>A (p.Val961=)
c.2835T>A (p.Val945=)
c.2700T>A (p.Val900=)
16g.28835752T>CCA494869539ATXN2Lc.2889T>C (p.Val963=)
c.864T>C (p.Val288=)
n.3263T>C
c.84T>C (p.Val28=)
c.2907T>C (p.Val969=)
c.1953T>C (n.1953T>C)
c.158T>C
c.867T>C (p.Val289=)
c.409T>C
c.2910T>C (p.Val970=)
c.2892T>C (p.Val964=)
c.2730T>C (p.Val910=)
c.2838T>C (p.Val946=)
c.2820T>C (p.Val940=)
c.2544T>C (p.Val848=)
n.3119T>C
c.2712T>C (p.Val904=)
c.2526T>C (p.Val842=)
n.3122T>C
c.2817T>C (p.Val939=)
c.2883T>C (p.Val961=)
c.2835T>C (p.Val945=)
c.2700T>C (p.Val900=)
16g.28835752T>GCA494869541ATXN2Lc.2889T>G (p.Val963=)
c.864T>G (p.Val288=)
n.3263T>G
c.84T>G (p.Val28=)
c.2907T>G (p.Val969=)
c.1953T>G (n.1953T>G)
c.158T>G
c.867T>G (p.Val289=)
c.409T>G
c.2910T>G (p.Val970=)
c.2892T>G (p.Val964=)
c.2730T>G (p.Val910=)
c.2838T>G (p.Val946=)
c.2820T>G (p.Val940=)
c.2544T>G (p.Val848=)
n.3119T>G
c.2712T>G (p.Val904=)
c.2526T>G (p.Val842=)
n.3122T>G
c.2817T>G (p.Val939=)
c.2883T>G (p.Val961=)
c.2835T>G (p.Val945=)
c.2700T>G (p.Val900=)
16g.28835753A>CCA395408658ATXN2Lc.2890A>C (p.Thr964Pro)
c.865A>C (p.Thr289Pro)
n.3264A>C
c.85A>C (p.Thr29Pro)
c.2908A>C (p.Thr970Pro)
c.1954A>C (n.1954A>C)
c.159A>C
c.868A>C (p.Thr290Pro)
c.410A>C
c.2911A>C (p.Thr971Pro)
c.2893A>C (p.Thr965Pro)
c.2731A>C (p.Thr911Pro)
c.2839A>C (p.Thr947Pro)
c.2821A>C (p.Thr941Pro)
c.2545A>C (p.Thr849Pro)
n.3120A>C
c.2713A>C (p.Thr905Pro)
c.2527A>C (p.Thr843Pro)
n.3123A>C
c.2818A>C (p.Thr940Pro)
c.2884A>C (p.Thr962Pro)
c.2836A>C (p.Thr946Pro)
c.2701A>C (p.Thr901Pro)
16g.28835753A>GCA395408660ATXN2Lc.2890A>G (p.Thr964Ala)
c.865A>G (p.Thr289Ala)
n.3264A>G
c.85A>G (p.Thr29Ala)
c.2908A>G (p.Thr970Ala)
c.1954A>G (n.1954A>G)
c.159A>G
c.868A>G (p.Thr290Ala)
c.410A>G
c.2911A>G (p.Thr971Ala)
c.2893A>G (p.Thr965Ala)
c.2731A>G (p.Thr911Ala)
c.2839A>G (p.Thr947Ala)
c.2821A>G (p.Thr941Ala)
c.2545A>G (p.Thr849Ala)
n.3120A>G
c.2713A>G (p.Thr905Ala)
c.2527A>G (p.Thr843Ala)
n.3123A>G
c.2818A>G (p.Thr940Ala)
c.2884A>G (p.Thr962Ala)
c.2836A>G (p.Thr946Ala)
c.2701A>G (p.Thr901Ala)
16g.28835753A>TCA395408662ATXN2Lc.2890A>T (p.Thr964Ser)
c.865A>T (p.Thr289Ser)
n.3264A>T
c.85A>T (p.Thr29Ser)
c.2908A>T (p.Thr970Ser)
c.1954A>T (n.1954A>T)
c.159A>T
c.868A>T (p.Thr290Ser)
c.410A>T
c.2911A>T (p.Thr971Ser)
c.2893A>T (p.Thr965Ser)
c.2731A>T (p.Thr911Ser)
c.2839A>T (p.Thr947Ser)
c.2821A>T (p.Thr941Ser)
c.2545A>T (p.Thr849Ser)
n.3120A>T
c.2713A>T (p.Thr905Ser)
c.2527A>T (p.Thr843Ser)
n.3123A>T
c.2818A>T (p.Thr940Ser)
c.2884A>T (p.Thr962Ser)
c.2836A>T (p.Thr946Ser)
c.2701A>T (p.Thr901Ser)
16g.28835754C>ACA395408666ATXN2Lc.2891C>A (p.Thr964Asn)
c.866C>A (p.Thr289Asn)
n.3265C>A
c.86C>A (p.Thr29Asn)
c.2909C>A (p.Thr970Asn)
c.1955C>A (n.1955C>A)
c.160C>A
c.869C>A (p.Thr290Asn)
c.411C>A
c.2912C>A (p.Thr971Asn)
c.2894C>A (p.Thr965Asn)
c.2732C>A (p.Thr911Asn)
c.2840C>A (p.Thr947Asn)
c.2822C>A (p.Thr941Asn)
c.2546C>A (p.Thr849Asn)
n.3121C>A
c.2714C>A (p.Thr905Asn)
c.2528C>A (p.Thr843Asn)
n.3124C>A
c.2819C>A (p.Thr940Asn)
c.2885C>A (p.Thr962Asn)
c.2837C>A (p.Thr946Asn)
c.2702C>A (p.Thr901Asn)
16g.28835754C>GCA395408668ATXN2Lc.2891C>G (p.Thr964Ser)
c.866C>G (p.Thr289Ser)
n.3265C>G
c.86C>G (p.Thr29Ser)
c.2909C>G (p.Thr970Ser)
c.1955C>G (n.1955C>G)
c.160C>G
c.869C>G (p.Thr290Ser)
c.411C>G
c.2912C>G (p.Thr971Ser)
c.2894C>G (p.Thr965Ser)
c.2732C>G (p.Thr911Ser)
c.2840C>G (p.Thr947Ser)
c.2822C>G (p.Thr941Ser)
c.2546C>G (p.Thr849Ser)
n.3121C>G
c.2714C>G (p.Thr905Ser)
c.2528C>G (p.Thr843Ser)
n.3124C>G
c.2819C>G (p.Thr940Ser)
c.2885C>G (p.Thr962Ser)
c.2837C>G (p.Thr946Ser)
c.2702C>G (p.Thr901Ser)
 gnomAD v4
16g.28835754C>TCA395408664ATXN2Lc.2891C>T (p.Thr964Ile)
c.866C>T (p.Thr289Ile)
n.3265C>T
c.86C>T (p.Thr29Ile)
c.2909C>T (p.Thr970Ile)
c.1955C>T (n.1955C>T)
c.160C>T
c.869C>T (p.Thr290Ile)
c.411C>T
c.2912C>T (p.Thr971Ile)
c.2894C>T (p.Thr965Ile)
c.2732C>T (p.Thr911Ile)
c.2840C>T (p.Thr947Ile)
c.2822C>T (p.Thr941Ile)
c.2546C>T (p.Thr849Ile)
n.3121C>T
c.2714C>T (p.Thr905Ile)
c.2528C>T (p.Thr843Ile)
n.3124C>T
c.2819C>T (p.Thr940Ile)
c.2885C>T (p.Thr962Ile)
c.2837C>T (p.Thr946Ile)
c.2702C>T (p.Thr901Ile)
16g.28835755C>ACA494869549ATXN2Lc.2892C>A (p.Thr964=)
c.867C>A (p.Thr289=)
n.3266C>A
c.87C>A (p.Thr29=)
c.2910C>A (p.Thr970=)
c.1956C>A (n.1956C>A)
c.161C>A
c.870C>A (p.Thr290=)
c.412C>A
c.2913C>A (p.Thr971=)
c.2895C>A (p.Thr965=)
c.2733C>A (p.Thr911=)
c.2841C>A (p.Thr947=)
c.2823C>A (p.Thr941=)
c.2547C>A (p.Thr849=)
n.3122C>A
c.2715C>A (p.Thr905=)
c.2529C>A (p.Thr843=)
n.3125C>A
c.2820C>A (p.Thr940=)
c.2886C>A (p.Thr962=)
c.2838C>A (p.Thr946=)
c.2703C>A (p.Thr901=)
16g.28835755C=CA2215806533ATXN2Lc.2892C= (p.Thr964=)
c.867C= (p.Thr289=)
n.3266C=
c.87C= (p.Thr29=)
c.2910C= (p.Thr970=)
c.1956C= (n.1956C=)
c.161C=
c.870C= (p.Thr290=)
c.412C=
c.2913C= (p.Thr971=)
c.2895C= (p.Thr965=)
c.2733C= (p.Thr911=)
c.2841C= (p.Thr947=)
c.2823C= (p.Thr941=)
c.2547C= (p.Thr849=)
n.3122C=
c.2715C= (p.Thr905=)
c.2529C= (p.Thr843=)
n.3125C=
c.2820C= (p.Thr940=)
c.2886C= (p.Thr962=)
c.2838C= (p.Thr946=)
c.2703C= (p.Thr901=)
16g.28835755C>GCA494869552ATXN2Lc.2892C>G (p.Thr964=)
c.867C>G (p.Thr289=)
n.3266C>G
c.87C>G (p.Thr29=)
c.2910C>G (p.Thr970=)
c.1956C>G (n.1956C>G)
c.161C>G
c.870C>G (p.Thr290=)
c.412C>G
c.2913C>G (p.Thr971=)
c.2895C>G (p.Thr965=)
c.2733C>G (p.Thr911=)
c.2841C>G (p.Thr947=)
c.2823C>G (p.Thr941=)
c.2547C>G (p.Thr849=)
n.3122C>G
c.2715C>G (p.Thr905=)
c.2529C>G (p.Thr843=)
n.3125C>G
c.2820C>G (p.Thr940=)
c.2886C>G (p.Thr962=)
c.2838C>G (p.Thr946=)
c.2703C>G (p.Thr901=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835755C>TCA494869554ATXN2Lc.2892C>T (p.Thr964=)
c.867C>T (p.Thr289=)
n.3266C>T
c.87C>T (p.Thr29=)
c.2910C>T (p.Thr970=)
c.1956C>T (n.1956C>T)
c.161C>T
c.870C>T (p.Thr290=)
c.412C>T
c.2913C>T (p.Thr971=)
c.2895C>T (p.Thr965=)
c.2733C>T (p.Thr911=)
c.2841C>T (p.Thr947=)
c.2823C>T (p.Thr941=)
c.2547C>T (p.Thr849=)
n.3122C>T
c.2715C>T (p.Thr905=)
c.2529C>T (p.Thr843=)
n.3125C>T
c.2820C>T (p.Thr940=)
c.2886C>T (p.Thr962=)
c.2838C>T (p.Thr946=)
c.2703C>T (p.Thr901=)
16g.28835756C>ACA395408672ATXN2Lc.2893C>A (p.Gln965Lys)
c.868C>A (p.Gln290Lys)
n.3267C>A
c.88C>A (p.Gln30Lys)
c.2911C>A (p.Gln971Lys)
c.1957C>A (n.1957C>A)
c.162C>A
c.871C>A (p.Gln291Lys)
c.413C>A
c.2914C>A (p.Gln972Lys)
c.2896C>A (p.Gln966Lys)
c.2734C>A (p.Gln912Lys)
c.2842C>A (p.Gln948Lys)
c.2824C>A (p.Gln942Lys)
c.2548C>A (p.Gln850Lys)
n.3123C>A
c.2716C>A (p.Gln906Lys)
c.2530C>A (p.Gln844Lys)
n.3126C>A
c.2821C>A (p.Gln941Lys)
c.2887C>A (p.Gln963Lys)
c.2839C>A (p.Gln947Lys)
c.2704C>A (p.Gln902Lys)
16g.28835756C>GCA395408670ATXN2Lc.2893C>G (p.Gln965Glu)
c.868C>G (p.Gln290Glu)
n.3267C>G
c.88C>G (p.Gln30Glu)
c.2911C>G (p.Gln971Glu)
c.1957C>G (n.1957C>G)
c.162C>G
c.871C>G (p.Gln291Glu)
c.413C>G
c.2914C>G (p.Gln972Glu)
c.2896C>G (p.Gln966Glu)
c.2734C>G (p.Gln912Glu)
c.2842C>G (p.Gln948Glu)
c.2824C>G (p.Gln942Glu)
c.2548C>G (p.Gln850Glu)
n.3123C>G
c.2716C>G (p.Gln906Glu)
c.2530C>G (p.Gln844Glu)
n.3126C>G
c.2821C>G (p.Gln941Glu)
c.2887C>G (p.Gln963Glu)
c.2839C>G (p.Gln947Glu)
c.2704C>G (p.Gln902Glu)
16g.28835756C>TCA395408673ATXN2Lc.2893C>T (p.Gln965Ter)
c.868C>T (p.Gln290Ter)
n.3267C>T
c.88C>T (p.Gln30Ter)
c.2911C>T (p.Gln971Ter)
c.1957C>T (n.1957C>T)
c.162C>T
c.871C>T (p.Gln291Ter)
c.413C>T
c.2914C>T (p.Gln972Ter)
c.2896C>T (p.Gln966Ter)
c.2734C>T (p.Gln912Ter)
c.2842C>T (p.Gln948Ter)
c.2824C>T (p.Gln942Ter)
c.2548C>T (p.Gln850Ter)
n.3123C>T
c.2716C>T (p.Gln906Ter)
c.2530C>T (p.Gln844Ter)
n.3126C>T
c.2821C>T (p.Gln941Ter)
c.2887C>T (p.Gln963Ter)
c.2839C>T (p.Gln947Ter)
c.2704C>T (p.Gln902Ter)
16g.28835760_28835933delCA2632528961ATXN2Lc.2895+2_2896del
c.870+2_871del
n.3269+2_3270del
c.90+2_91del
c.2913+2_2914del
c.1959+2_1960del
c.164+2_165del
c.873+2_874del
c.415+2_416del
c.2916+2_2917del
c.2898+2_2899del
c.2736+2_2737del
c.2844+2_2845del
c.2826+2_2827del
c.2550+2_2551del
n.3125+2_3126del
c.2718+2_2719del
c.2532+2_2533del
n.3128+2_3129del
c.2823+2_2824del
c.2889+2_2890del
c.2841+2_2842del
c.2706+2_2707del
c.2895+2_2895+175del
 gnomAD v4
16g.28835757A=CA2215806536ATXN2Lc.2894A= (p.Gln965=)
c.869A= (p.Gln290=)
n.3268A=
c.89A= (p.Gln30=)
c.2912A= (p.Gln971=)
c.1958A= (n.1958A=)
c.163A=
c.872A= (p.Gln291=)
c.414A=
c.2915A= (p.Gln972=)
c.2897A= (p.Gln966=)
c.2735A= (p.Gln912=)
c.2843A= (p.Gln948=)
c.2825A= (p.Gln942=)
c.2549A= (p.Gln850=)
n.3124A=
c.2717A= (p.Gln906=)
c.2531A= (p.Gln844=)
n.3127A=
c.2822A= (p.Gln941=)
c.2888A= (p.Gln963=)
c.2840A= (p.Gln947=)
c.2705A= (p.Gln902=)
16g.28835757A>CCA395408676ATXN2Lc.2894A>C (p.Gln965Pro)
c.869A>C (p.Gln290Pro)
n.3268A>C
c.89A>C (p.Gln30Pro)
c.2912A>C (p.Gln971Pro)
c.1958A>C (n.1958A>C)
c.163A>C
c.872A>C (p.Gln291Pro)
c.414A>C
c.2915A>C (p.Gln972Pro)
c.2897A>C (p.Gln966Pro)
c.2735A>C (p.Gln912Pro)
c.2843A>C (p.Gln948Pro)
c.2825A>C (p.Gln942Pro)
c.2549A>C (p.Gln850Pro)
n.3124A>C
c.2717A>C (p.Gln906Pro)
c.2531A>C (p.Gln844Pro)
n.3127A>C
c.2822A>C (p.Gln941Pro)
c.2888A>C (p.Gln963Pro)
c.2840A>C (p.Gln947Pro)
c.2705A>C (p.Gln902Pro)
16g.28835757A>GCA395408677ATXN2Lc.2894A>G (p.Gln965Arg)
c.869A>G (p.Gln290Arg)
n.3268A>G
c.89A>G (p.Gln30Arg)
c.2912A>G (p.Gln971Arg)
c.1958A>G (n.1958A>G)
c.163A>G
c.872A>G (p.Gln291Arg)
c.414A>G
c.2915A>G (p.Gln972Arg)
c.2897A>G (p.Gln966Arg)
c.2735A>G (p.Gln912Arg)
c.2843A>G (p.Gln948Arg)
c.2825A>G (p.Gln942Arg)
c.2549A>G (p.Gln850Arg)
n.3124A>G
c.2717A>G (p.Gln906Arg)
c.2531A>G (p.Gln844Arg)
n.3127A>G
c.2822A>G (p.Gln941Arg)
c.2888A>G (p.Gln963Arg)
c.2840A>G (p.Gln947Arg)
c.2705A>G (p.Gln902Arg)
16g.28835757A>TCA395408679ATXN2Lc.2894A>T (p.Gln965Leu)
c.869A>T (p.Gln290Leu)
n.3268A>T
c.89A>T (p.Gln30Leu)
c.2912A>T (p.Gln971Leu)
c.1958A>T (n.1958A>T)
c.163A>T
c.872A>T (p.Gln291Leu)
c.414A>T
c.2915A>T (p.Gln972Leu)
c.2897A>T (p.Gln966Leu)
c.2735A>T (p.Gln912Leu)
c.2843A>T (p.Gln948Leu)
c.2825A>T (p.Gln942Leu)
c.2549A>T (p.Gln850Leu)
n.3124A>T
c.2717A>T (p.Gln906Leu)
c.2531A>T (p.Gln844Leu)
n.3127A>T
c.2822A>T (p.Gln941Leu)
c.2888A>T (p.Gln963Leu)
c.2840A>T (p.Gln947Leu)
c.2705A>T (p.Gln902Leu)
 dbSNP
16g.28835758G>ACA494869564ATXN2Lc.2895G>A (p.Gln965=)
c.870G>A (p.Gln290=)
n.3269G>A
c.90G>A (p.Gln30=)
c.2913G>A (p.Gln971=)
c.1959G>A (n.1959G>A)
c.164G>A
c.873G>A (p.Gln291=)
c.415G>A
c.2916G>A (p.Gln972=)
c.2898G>A (p.Gln966=)
c.2736G>A (p.Gln912=)
c.2844G>A (p.Gln948=)
c.2826G>A (p.Gln942=)
c.2550G>A (p.Gln850=)
n.3125G>A
c.2718G>A (p.Gln906=)
c.2532G>A (p.Gln844=)
n.3128G>A
c.2823G>A (p.Gln941=)
c.2889G>A (p.Gln963=)
c.2841G>A (p.Gln947=)
c.2706G>A (p.Gln902=)
16g.28835758G>CCA395408682ATXN2Lc.2895G>C (p.Gln965His)
c.870G>C (p.Gln290His)
n.3269G>C
c.90G>C (p.Gln30His)
c.2913G>C (p.Gln971His)
c.1959G>C (n.1959G>C)
c.164G>C
c.873G>C (p.Gln291His)
c.415G>C
c.2916G>C (p.Gln972His)
c.2898G>C (p.Gln966His)
c.2736G>C (p.Gln912His)
c.2844G>C (p.Gln948His)
c.2826G>C (p.Gln942His)
c.2550G>C (p.Gln850His)
n.3125G>C
c.2718G>C (p.Gln906His)
c.2532G>C (p.Gln844His)
n.3128G>C
c.2823G>C (p.Gln941His)
c.2889G>C (p.Gln963His)
c.2841G>C (p.Gln947His)
c.2706G>C (p.Gln902His)
 gnomAD v4
16g.28835758G>TCA395408684ATXN2Lc.2895G>T (p.Gln965His)
c.870G>T (p.Gln290His)
n.3269G>T
c.90G>T (p.Gln30His)
c.2913G>T (p.Gln971His)
c.1959G>T (n.1959G>T)
c.164G>T
c.873G>T (p.Gln291His)
c.415G>T
c.2916G>T (p.Gln972His)
c.2898G>T (p.Gln966His)
c.2736G>T (p.Gln912His)
c.2844G>T (p.Gln948His)
c.2826G>T (p.Gln942His)
c.2550G>T (p.Gln850His)
n.3125G>T
c.2718G>T (p.Gln906His)
c.2532G>T (p.Gln844His)
n.3128G>T
c.2823G>T (p.Gln941His)
c.2889G>T (p.Gln963His)
c.2841G>T (p.Gln947His)
c.2706G>T (p.Gln902His)
16g.28835759G>ACA395408685ATXN2Lc.2895+1G>A (n.2895+1G>A)
c.870+1G>A (n.870+1G>A)
n.3269+1G>A
c.90+1G>A (n.90+1G>A)
c.2913+1G>A (n.2913+1G>A)
c.1959+1G>A (n.1959+1G>A)
c.164+1G>A
c.873+1G>A (n.873+1G>A)
c.415+1G>A
c.2916+1G>A (n.2916+1G>A)
c.2898+1G>A (n.2898+1G>A)
c.2736+1G>A (n.2736+1G>A)
c.2844+1G>A (n.2844+1G>A)
c.2826+1G>A (n.2826+1G>A)
c.2550+1G>A (n.2550+1G>A)
n.3125+1G>A
c.2718+1G>A (n.2718+1G>A)
c.2532+1G>A (n.2532+1G>A)
n.3128+1G>A
c.2823+1G>A (n.2823+1G>A)
c.2889+1G>A (n.2889+1G>A)
c.2841+1G>A (n.2841+1G>A)
c.2706+1G>A (n.2706+1G>A)
 gnomAD v4
16g.28835759G>CCA395408687ATXN2Lc.2895+1G>C (n.2895+1G>C)
c.870+1G>C (n.870+1G>C)
n.3269+1G>C
c.90+1G>C (n.90+1G>C)
c.2913+1G>C (n.2913+1G>C)
c.1959+1G>C (n.1959+1G>C)
c.164+1G>C
c.873+1G>C (n.873+1G>C)
c.415+1G>C
c.2916+1G>C (n.2916+1G>C)
c.2898+1G>C (n.2898+1G>C)
c.2736+1G>C (n.2736+1G>C)
c.2844+1G>C (n.2844+1G>C)
c.2826+1G>C (n.2826+1G>C)
c.2550+1G>C (n.2550+1G>C)
n.3125+1G>C
c.2718+1G>C (n.2718+1G>C)
c.2532+1G>C (n.2532+1G>C)
n.3128+1G>C
c.2823+1G>C (n.2823+1G>C)
c.2889+1G>C (n.2889+1G>C)
c.2841+1G>C (n.2841+1G>C)
c.2706+1G>C (n.2706+1G>C)
16g.28835759G>TCA395408689ATXN2Lc.2895+1G>T (n.2895+1G>T)
c.870+1G>T (n.870+1G>T)
n.3269+1G>T
c.90+1G>T (n.90+1G>T)
c.2913+1G>T (n.2913+1G>T)
c.1959+1G>T (n.1959+1G>T)
c.164+1G>T
c.873+1G>T (n.873+1G>T)
c.415+1G>T
c.2916+1G>T (n.2916+1G>T)
c.2898+1G>T (n.2898+1G>T)
c.2736+1G>T (n.2736+1G>T)
c.2844+1G>T (n.2844+1G>T)
c.2826+1G>T (n.2826+1G>T)
c.2550+1G>T (n.2550+1G>T)
n.3125+1G>T
c.2718+1G>T (n.2718+1G>T)
c.2532+1G>T (n.2532+1G>T)
n.3128+1G>T
c.2823+1G>T (n.2823+1G>T)
c.2889+1G>T (n.2889+1G>T)
c.2841+1G>T (n.2841+1G>T)
c.2706+1G>T (n.2706+1G>T)
16g.28835760T>ACA395408691ATXN2Lc.2895+2T>A (n.2895+2T>A)
c.870+2T>A (n.870+2T>A)
n.3269+2T>A
c.90+2T>A (n.90+2T>A)
c.2913+2T>A (n.2913+2T>A)
c.1959+2T>A (n.1959+2T>A)
c.164+2T>A
c.873+2T>A (n.873+2T>A)
c.415+2T>A
c.2916+2T>A (n.2916+2T>A)
c.2898+2T>A (n.2898+2T>A)
c.2736+2T>A (n.2736+2T>A)
c.2844+2T>A (n.2844+2T>A)
c.2826+2T>A (n.2826+2T>A)
c.2550+2T>A (n.2550+2T>A)
n.3125+2T>A
c.2718+2T>A (n.2718+2T>A)
c.2532+2T>A (n.2532+2T>A)
n.3128+2T>A
c.2823+2T>A (n.2823+2T>A)
c.2889+2T>A (n.2889+2T>A)
c.2841+2T>A (n.2841+2T>A)
c.2706+2T>A (n.2706+2T>A)
16g.28835760T>CCA395408692ATXN2Lc.2895+2T>C (n.2895+2T>C)
c.870+2T>C (n.870+2T>C)
n.3269+2T>C
c.90+2T>C (n.90+2T>C)
c.2913+2T>C (n.2913+2T>C)
c.1959+2T>C (n.1959+2T>C)
c.164+2T>C
c.873+2T>C (n.873+2T>C)
c.415+2T>C
c.2916+2T>C (n.2916+2T>C)
c.2898+2T>C (n.2898+2T>C)
c.2736+2T>C (n.2736+2T>C)
c.2844+2T>C (n.2844+2T>C)
c.2826+2T>C (n.2826+2T>C)
c.2550+2T>C (n.2550+2T>C)
n.3125+2T>C
c.2718+2T>C (n.2718+2T>C)
c.2532+2T>C (n.2532+2T>C)
n.3128+2T>C
c.2823+2T>C (n.2823+2T>C)
c.2889+2T>C (n.2889+2T>C)
c.2841+2T>C (n.2841+2T>C)
c.2706+2T>C (n.2706+2T>C)
16g.28835760T>GCA395408694ATXN2Lc.2895+2T>G (n.2895+2T>G)
c.870+2T>G (n.870+2T>G)
n.3269+2T>G
c.90+2T>G (n.90+2T>G)
c.2913+2T>G (n.2913+2T>G)
c.1959+2T>G (n.1959+2T>G)
c.164+2T>G
c.873+2T>G (n.873+2T>G)
c.415+2T>G
c.2916+2T>G (n.2916+2T>G)
c.2898+2T>G (n.2898+2T>G)
c.2736+2T>G (n.2736+2T>G)
c.2844+2T>G (n.2844+2T>G)
c.2826+2T>G (n.2826+2T>G)
c.2550+2T>G (n.2550+2T>G)
n.3125+2T>G
c.2718+2T>G (n.2718+2T>G)
c.2532+2T>G (n.2532+2T>G)
n.3128+2T>G
c.2823+2T>G (n.2823+2T>G)
c.2889+2T>G (n.2889+2T>G)
c.2841+2T>G (n.2841+2T>G)
c.2706+2T>G (n.2706+2T>G)

Number of alleles fetched