Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28836015C>ACA395409047ATXN2Lc.2978C>A (p.Pro993Gln)
c.953C>A (p.Pro318Gln)
n.3352C>A
c.173C>A (p.Pro58Gln)
c.2996C>A (p.Pro999Gln)
c.2042C>A (n.2042C>A)
c.247C>A
c.956C>A (p.Pro319Gln)
c.498C>A
c.2999C>A (p.Pro1000Gln)
c.2981C>A (p.Pro994Gln)
c.2819C>A (p.Pro940Gln)
c.2927C>A (p.Pro976Gln)
c.2909C>A (p.Pro970Gln)
c.2633C>A (p.Pro878Gln)
n.3208C>A
c.2801C>A (p.Pro934Gln)
c.2615C>A (p.Pro872Gln)
n.3211C>A
c.2906C>A (p.Pro969Gln)
c.2972C>A (p.Pro991Gln)
c.2924C>A (p.Pro975Gln)
c.2789C>A (p.Pro930Gln)
c.2896-108C>A (n.2896-108C>A)
16g.28836015C=CA2215806807ATXN2Lc.2978C= (p.Pro993=)
c.953C= (p.Pro318=)
n.3352C=
c.173C= (p.Pro58=)
c.2996C= (p.Pro999=)
c.2042C= (n.2042C=)
c.247C=
c.956C= (p.Pro319=)
c.498C=
c.2999C= (p.Pro1000=)
c.2981C= (p.Pro994=)
c.2819C= (p.Pro940=)
c.2927C= (p.Pro976=)
c.2909C= (p.Pro970=)
c.2633C= (p.Pro878=)
n.3208C=
c.2801C= (p.Pro934=)
c.2615C= (p.Pro872=)
n.3211C=
c.2906C= (p.Pro969=)
c.2972C= (p.Pro991=)
c.2924C= (p.Pro975=)
c.2789C= (p.Pro930=)
c.2896-108C= (n.2896-108C=)
16g.28836015C>GCA395409048ATXN2Lc.2978C>G (p.Pro993Arg)
c.953C>G (p.Pro318Arg)
n.3352C>G
c.173C>G (p.Pro58Arg)
c.2996C>G (p.Pro999Arg)
c.2042C>G (n.2042C>G)
c.247C>G
c.956C>G (p.Pro319Arg)
c.498C>G
c.2999C>G (p.Pro1000Arg)
c.2981C>G (p.Pro994Arg)
c.2819C>G (p.Pro940Arg)
c.2927C>G (p.Pro976Arg)
c.2909C>G (p.Pro970Arg)
c.2633C>G (p.Pro878Arg)
n.3208C>G
c.2801C>G (p.Pro934Arg)
c.2615C>G (p.Pro872Arg)
n.3211C>G
c.2906C>G (p.Pro969Arg)
c.2972C>G (p.Pro991Arg)
c.2924C>G (p.Pro975Arg)
c.2789C>G (p.Pro930Arg)
c.2896-108C>G (n.2896-108C>G)
 dbSNP
16g.28836015C>TCA395409050ATXN2Lc.2978C>T (p.Pro993Leu)
c.953C>T (p.Pro318Leu)
n.3352C>T
c.173C>T (p.Pro58Leu)
c.2996C>T (p.Pro999Leu)
c.2042C>T (n.2042C>T)
c.247C>T
c.956C>T (p.Pro319Leu)
c.498C>T
c.2999C>T (p.Pro1000Leu)
c.2981C>T (p.Pro994Leu)
c.2819C>T (p.Pro940Leu)
c.2927C>T (p.Pro976Leu)
c.2909C>T (p.Pro970Leu)
c.2633C>T (p.Pro878Leu)
n.3208C>T
c.2801C>T (p.Pro934Leu)
c.2615C>T (p.Pro872Leu)
n.3211C>T
c.2906C>T (p.Pro969Leu)
c.2972C>T (p.Pro991Leu)
c.2924C>T (p.Pro975Leu)
c.2789C>T (p.Pro930Leu)
c.2896-108C>T (n.2896-108C>T)
16g.28836016A=CA2215806809ATXN2Lc.2979A= (p.Pro993=)
c.954A= (p.Pro318=)
n.3353A=
c.174A= (p.Pro58=)
c.2997A= (p.Pro999=)
c.2043A= (n.2043A=)
c.248A=
c.957A= (p.Pro319=)
c.499A=
c.3000A= (p.Pro1000=)
c.2982A= (p.Pro994=)
c.2820A= (p.Pro940=)
c.2928A= (p.Pro976=)
c.2910A= (p.Pro970=)
c.2634A= (p.Pro878=)
n.3209A=
c.2802A= (p.Pro934=)
c.2616A= (p.Pro872=)
n.3212A=
c.2907A= (p.Pro969=)
c.2973A= (p.Pro991=)
c.2925A= (p.Pro975=)
c.2790A= (p.Pro930=)
c.2896-107A= (n.2896-107A=)
16g.28836016A>CCA494868877ATXN2Lc.2979A>C (p.Pro993=)
c.954A>C (p.Pro318=)
n.3353A>C
c.174A>C (p.Pro58=)
c.2997A>C (p.Pro999=)
c.2043A>C (n.2043A>C)
c.248A>C
c.957A>C (p.Pro319=)
c.499A>C
c.3000A>C (p.Pro1000=)
c.2982A>C (p.Pro994=)
c.2820A>C (p.Pro940=)
c.2928A>C (p.Pro976=)
c.2910A>C (p.Pro970=)
c.2634A>C (p.Pro878=)
n.3209A>C
c.2802A>C (p.Pro934=)
c.2616A>C (p.Pro872=)
n.3212A>C
c.2907A>C (p.Pro969=)
c.2973A>C (p.Pro991=)
c.2925A>C (p.Pro975=)
c.2790A>C (p.Pro930=)
c.2896-107A>C (n.2896-107A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28836016A>GCA494868880ATXN2Lc.2979A>G (p.Pro993=)
c.954A>G (p.Pro318=)
n.3353A>G
c.174A>G (p.Pro58=)
c.2997A>G (p.Pro999=)
c.2043A>G (n.2043A>G)
c.248A>G
c.957A>G (p.Pro319=)
c.499A>G
c.3000A>G (p.Pro1000=)
c.2982A>G (p.Pro994=)
c.2820A>G (p.Pro940=)
c.2928A>G (p.Pro976=)
c.2910A>G (p.Pro970=)
c.2634A>G (p.Pro878=)
n.3209A>G
c.2802A>G (p.Pro934=)
c.2616A>G (p.Pro872=)
n.3212A>G
c.2907A>G (p.Pro969=)
c.2973A>G (p.Pro991=)
c.2925A>G (p.Pro975=)
c.2790A>G (p.Pro930=)
c.2896-107A>G (n.2896-107A>G)
16g.28836016A>TCA494868885ATXN2Lc.2979A>T (p.Pro993=)
c.954A>T (p.Pro318=)
n.3353A>T
c.174A>T (p.Pro58=)
c.2997A>T (p.Pro999=)
c.2043A>T (n.2043A>T)
c.248A>T
c.957A>T (p.Pro319=)
c.499A>T
c.3000A>T (p.Pro1000=)
c.2982A>T (p.Pro994=)
c.2820A>T (p.Pro940=)
c.2928A>T (p.Pro976=)
c.2910A>T (p.Pro970=)
c.2634A>T (p.Pro878=)
n.3209A>T
c.2802A>T (p.Pro934=)
c.2616A>T (p.Pro872=)
n.3212A>T
c.2907A>T (p.Pro969=)
c.2973A>T (p.Pro991=)
c.2925A>T (p.Pro975=)
c.2790A>T (p.Pro930=)
c.2896-107A>T (n.2896-107A>T)
16g.28836017C>ACA395409051ATXN2Lc.2980C>A (p.Pro994Thr)
c.955C>A (p.Pro319Thr)
n.3354C>A
c.175C>A (p.Pro59Thr)
c.2998C>A (p.Pro1000Thr)
c.2044C>A (n.2044C>A)
c.249C>A
c.958C>A (p.Pro320Thr)
c.500C>A
c.3001C>A (p.Pro1001Thr)
c.2983C>A (p.Pro995Thr)
c.2821C>A (p.Pro941Thr)
c.2929C>A (p.Pro977Thr)
c.2911C>A (p.Pro971Thr)
c.2635C>A (p.Pro879Thr)
n.3210C>A
c.2803C>A (p.Pro935Thr)
c.2617C>A (p.Pro873Thr)
n.3213C>A
c.2908C>A (p.Pro970Thr)
c.2974C>A (p.Pro992Thr)
c.2926C>A (p.Pro976Thr)
c.2791C>A (p.Pro931Thr)
c.2896-106C>A (n.2896-106C>A)
 dbSNP gnomAD v2 gnomAD v4
16g.28836017C=CA2215806810ATXN2Lc.2980C= (p.Pro994=)
c.955C= (p.Pro319=)
n.3354C=
c.175C= (p.Pro59=)
c.2998C= (p.Pro1000=)
c.2044C= (n.2044C=)
c.249C=
c.958C= (p.Pro320=)
c.500C=
c.3001C= (p.Pro1001=)
c.2983C= (p.Pro995=)
c.2821C= (p.Pro941=)
c.2929C= (p.Pro977=)
c.2911C= (p.Pro971=)
c.2635C= (p.Pro879=)
n.3210C=
c.2803C= (p.Pro935=)
c.2617C= (p.Pro873=)
n.3213C=
c.2908C= (p.Pro970=)
c.2974C= (p.Pro992=)
c.2926C= (p.Pro976=)
c.2791C= (p.Pro931=)
c.2896-106C= (n.2896-106C=)
16g.28836017C>GCA395409052ATXN2Lc.2980C>G (p.Pro994Ala)
c.955C>G (p.Pro319Ala)
n.3354C>G
c.175C>G (p.Pro59Ala)
c.2998C>G (p.Pro1000Ala)
c.2044C>G (n.2044C>G)
c.249C>G
c.958C>G (p.Pro320Ala)
c.500C>G
c.3001C>G (p.Pro1001Ala)
c.2983C>G (p.Pro995Ala)
c.2821C>G (p.Pro941Ala)
c.2929C>G (p.Pro977Ala)
c.2911C>G (p.Pro971Ala)
c.2635C>G (p.Pro879Ala)
n.3210C>G
c.2803C>G (p.Pro935Ala)
c.2617C>G (p.Pro873Ala)
n.3213C>G
c.2908C>G (p.Pro970Ala)
c.2974C>G (p.Pro992Ala)
c.2926C>G (p.Pro976Ala)
c.2791C>G (p.Pro931Ala)
c.2896-106C>G (n.2896-106C>G)
16g.28836017C>TCA395409055ATXN2Lc.2980C>T (p.Pro994Ser)
c.955C>T (p.Pro319Ser)
n.3354C>T
c.175C>T (p.Pro59Ser)
c.2998C>T (p.Pro1000Ser)
c.2044C>T (n.2044C>T)
c.249C>T
c.958C>T (p.Pro320Ser)
c.500C>T
c.3001C>T (p.Pro1001Ser)
c.2983C>T (p.Pro995Ser)
c.2821C>T (p.Pro941Ser)
c.2929C>T (p.Pro977Ser)
c.2911C>T (p.Pro971Ser)
c.2635C>T (p.Pro879Ser)
n.3210C>T
c.2803C>T (p.Pro935Ser)
c.2617C>T (p.Pro873Ser)
n.3213C>T
c.2908C>T (p.Pro970Ser)
c.2974C>T (p.Pro992Ser)
c.2926C>T (p.Pro976Ser)
c.2791C>T (p.Pro931Ser)
c.2896-106C>T (n.2896-106C>T)
16g.28836018C>ACA395409057ATXN2Lc.2981C>A (p.Pro994His)
c.956C>A (p.Pro319His)
n.3355C>A
c.176C>A (p.Pro59His)
c.2999C>A (p.Pro1000His)
c.2045C>A (n.2045C>A)
c.250C>A
c.959C>A (p.Pro320His)
c.501C>A
c.3002C>A (p.Pro1001His)
c.2984C>A (p.Pro995His)
c.2822C>A (p.Pro941His)
c.2930C>A (p.Pro977His)
c.2912C>A (p.Pro971His)
c.2636C>A (p.Pro879His)
n.3211C>A
c.2804C>A (p.Pro935His)
c.2618C>A (p.Pro873His)
n.3214C>A
c.2909C>A (p.Pro970His)
c.2975C>A (p.Pro992His)
c.2927C>A (p.Pro976His)
c.2792C>A (p.Pro931His)
c.2896-105C>A (n.2896-105C>A)
16g.28836018C>GCA395409061ATXN2Lc.2981C>G (p.Pro994Arg)
c.956C>G (p.Pro319Arg)
n.3355C>G
c.176C>G (p.Pro59Arg)
c.2999C>G (p.Pro1000Arg)
c.2045C>G (n.2045C>G)
c.250C>G
c.959C>G (p.Pro320Arg)
c.501C>G
c.3002C>G (p.Pro1001Arg)
c.2984C>G (p.Pro995Arg)
c.2822C>G (p.Pro941Arg)
c.2930C>G (p.Pro977Arg)
c.2912C>G (p.Pro971Arg)
c.2636C>G (p.Pro879Arg)
n.3211C>G
c.2804C>G (p.Pro935Arg)
c.2618C>G (p.Pro873Arg)
n.3214C>G
c.2909C>G (p.Pro970Arg)
c.2975C>G (p.Pro992Arg)
c.2927C>G (p.Pro976Arg)
c.2792C>G (p.Pro931Arg)
c.2896-105C>G (n.2896-105C>G)
16g.28836018C>TCA395409059ATXN2Lc.2981C>T (p.Pro994Leu)
c.956C>T (p.Pro319Leu)
n.3355C>T
c.176C>T (p.Pro59Leu)
c.2999C>T (p.Pro1000Leu)
c.2045C>T (n.2045C>T)
c.250C>T
c.959C>T (p.Pro320Leu)
c.501C>T
c.3002C>T (p.Pro1001Leu)
c.2984C>T (p.Pro995Leu)
c.2822C>T (p.Pro941Leu)
c.2930C>T (p.Pro977Leu)
c.2912C>T (p.Pro971Leu)
c.2636C>T (p.Pro879Leu)
n.3211C>T
c.2804C>T (p.Pro935Leu)
c.2618C>T (p.Pro873Leu)
n.3214C>T
c.2909C>T (p.Pro970Leu)
c.2975C>T (p.Pro992Leu)
c.2927C>T (p.Pro976Leu)
c.2792C>T (p.Pro931Leu)
c.2896-105C>T (n.2896-105C>T)
 gnomAD v4
16g.28836019C>ACA494868926ATXN2Lc.2982C>A (p.Pro994=)
c.957C>A (p.Pro319=)
n.3356C>A
c.177C>A (p.Pro59=)
c.3000C>A (p.Pro1000=)
c.2046C>A (n.2046C>A)
c.251C>A
c.960C>A (p.Pro320=)
c.502C>A
c.3003C>A (p.Pro1001=)
c.2985C>A (p.Pro995=)
c.2823C>A (p.Pro941=)
c.2931C>A (p.Pro977=)
c.2913C>A (p.Pro971=)
c.2637C>A (p.Pro879=)
n.3212C>A
c.2805C>A (p.Pro935=)
c.2619C>A (p.Pro873=)
n.3215C>A
c.2910C>A (p.Pro970=)
c.2976C>A (p.Pro992=)
c.2928C>A (p.Pro976=)
c.2793C>A (p.Pro931=)
c.2896-104C>A (n.2896-104C>A)
16g.28836019C=CA2215806813ATXN2Lc.2982C= (p.Pro994=)
c.957C= (p.Pro319=)
n.3356C=
c.177C= (p.Pro59=)
c.3000C= (p.Pro1000=)
c.2046C= (n.2046C=)
c.251C=
c.960C= (p.Pro320=)
c.502C=
c.3003C= (p.Pro1001=)
c.2985C= (p.Pro995=)
c.2823C= (p.Pro941=)
c.2931C= (p.Pro977=)
c.2913C= (p.Pro971=)
c.2637C= (p.Pro879=)
n.3212C=
c.2805C= (p.Pro935=)
c.2619C= (p.Pro873=)
n.3215C=
c.2910C= (p.Pro970=)
c.2976C= (p.Pro992=)
c.2928C= (p.Pro976=)
c.2793C= (p.Pro931=)
c.2896-104C= (n.2896-104C=)
16g.28836019C>GCA494868924ATXN2Lc.2982C>G (p.Pro994=)
c.957C>G (p.Pro319=)
n.3356C>G
c.177C>G (p.Pro59=)
c.3000C>G (p.Pro1000=)
c.2046C>G (n.2046C>G)
c.251C>G
c.960C>G (p.Pro320=)
c.502C>G
c.3003C>G (p.Pro1001=)
c.2985C>G (p.Pro995=)
c.2823C>G (p.Pro941=)
c.2931C>G (p.Pro977=)
c.2913C>G (p.Pro971=)
c.2637C>G (p.Pro879=)
n.3212C>G
c.2805C>G (p.Pro935=)
c.2619C>G (p.Pro873=)
n.3215C>G
c.2910C>G (p.Pro970=)
c.2976C>G (p.Pro992=)
c.2928C>G (p.Pro976=)
c.2793C>G (p.Pro931=)
c.2896-104C>G (n.2896-104C>G)
 dbSNP
16g.28836019C>TCA494868922ATXN2Lc.2982C>T (p.Pro994=)
c.957C>T (p.Pro319=)
n.3356C>T
c.177C>T (p.Pro59=)
c.3000C>T (p.Pro1000=)
c.2046C>T (n.2046C>T)
c.251C>T
c.960C>T (p.Pro320=)
c.502C>T
c.3003C>T (p.Pro1001=)
c.2985C>T (p.Pro995=)
c.2823C>T (p.Pro941=)
c.2931C>T (p.Pro977=)
c.2913C>T (p.Pro971=)
c.2637C>T (p.Pro879=)
n.3212C>T
c.2805C>T (p.Pro935=)
c.2619C>T (p.Pro873=)
n.3215C>T
c.2910C>T (p.Pro970=)
c.2976C>T (p.Pro992=)
c.2928C>T (p.Pro976=)
c.2793C>T (p.Pro931=)
c.2896-104C>T (n.2896-104C>T)
16g.28836020C>ACA395409062ATXN2Lc.2983C>A (p.Gln995Lys)
c.958C>A (p.Gln320Lys)
n.3357C>A
c.178C>A (p.Gln60Lys)
c.3001C>A (p.Gln1001Lys)
c.2047C>A (n.2047C>A)
c.252C>A
c.961C>A (p.Gln321Lys)
c.503C>A
c.3004C>A (p.Gln1002Lys)
c.2986C>A (p.Gln996Lys)
c.2824C>A (p.Gln942Lys)
c.2932C>A (p.Gln978Lys)
c.2914C>A (p.Gln972Lys)
c.2638C>A (p.Gln880Lys)
n.3213C>A
c.2806C>A (p.Gln936Lys)
c.2620C>A (p.Gln874Lys)
n.3216C>A
c.2911C>A (p.Gln971Lys)
c.2977C>A (p.Gln993Lys)
c.2929C>A (p.Gln977Lys)
c.2794C>A (p.Gln932Lys)
c.2896-103C>A (n.2896-103C>A)
16g.28836020C>GCA395409063ATXN2Lc.2983C>G (p.Gln995Glu)
c.958C>G (p.Gln320Glu)
n.3357C>G
c.178C>G (p.Gln60Glu)
c.3001C>G (p.Gln1001Glu)
c.2047C>G (n.2047C>G)
c.252C>G
c.961C>G (p.Gln321Glu)
c.503C>G
c.3004C>G (p.Gln1002Glu)
c.2986C>G (p.Gln996Glu)
c.2824C>G (p.Gln942Glu)
c.2932C>G (p.Gln978Glu)
c.2914C>G (p.Gln972Glu)
c.2638C>G (p.Gln880Glu)
n.3213C>G
c.2806C>G (p.Gln936Glu)
c.2620C>G (p.Gln874Glu)
n.3216C>G
c.2911C>G (p.Gln971Glu)
c.2977C>G (p.Gln993Glu)
c.2929C>G (p.Gln977Glu)
c.2794C>G (p.Gln932Glu)
c.2896-103C>G (n.2896-103C>G)
16g.28836020C>TCA395409065ATXN2Lc.2983C>T (p.Gln995Ter)
c.958C>T (p.Gln320Ter)
n.3357C>T
c.178C>T (p.Gln60Ter)
c.3001C>T (p.Gln1001Ter)
c.2047C>T (n.2047C>T)
c.252C>T
c.961C>T (p.Gln321Ter)
c.503C>T
c.3004C>T (p.Gln1002Ter)
c.2986C>T (p.Gln996Ter)
c.2824C>T (p.Gln942Ter)
c.2932C>T (p.Gln978Ter)
c.2914C>T (p.Gln972Ter)
c.2638C>T (p.Gln880Ter)
n.3213C>T
c.2806C>T (p.Gln936Ter)
c.2620C>T (p.Gln874Ter)
n.3216C>T
c.2911C>T (p.Gln971Ter)
c.2977C>T (p.Gln993Ter)
c.2929C>T (p.Gln977Ter)
c.2794C>T (p.Gln932Ter)
c.2896-103C>T (n.2896-103C>T)
 COSMIC COSMIC
16g.28836021A=CA2215806815ATXN2Lc.2984A= (p.Gln995=)
c.959A= (p.Gln320=)
n.3358A=
c.179A= (p.Gln60=)
c.3002A= (p.Gln1001=)
c.2048A= (n.2048A=)
c.253A=
c.962A= (p.Gln321=)
c.504A=
c.3005A= (p.Gln1002=)
c.2987A= (p.Gln996=)
c.2825A= (p.Gln942=)
c.2933A= (p.Gln978=)
c.2915A= (p.Gln972=)
c.2639A= (p.Gln880=)
n.3214A=
c.2807A= (p.Gln936=)
c.2621A= (p.Gln874=)
n.3217A=
c.2912A= (p.Gln971=)
c.2978A= (p.Gln993=)
c.2930A= (p.Gln977=)
c.2795A= (p.Gln932=)
c.2896-102A= (n.2896-102A=)
16g.28836021A>CCA395409068ATXN2Lc.2984A>C (p.Gln995Pro)
c.959A>C (p.Gln320Pro)
n.3358A>C
c.179A>C (p.Gln60Pro)
c.3002A>C (p.Gln1001Pro)
c.2048A>C (n.2048A>C)
c.253A>C
c.962A>C (p.Gln321Pro)
c.504A>C
c.3005A>C (p.Gln1002Pro)
c.2987A>C (p.Gln996Pro)
c.2825A>C (p.Gln942Pro)
c.2933A>C (p.Gln978Pro)
c.2915A>C (p.Gln972Pro)
c.2639A>C (p.Gln880Pro)
n.3214A>C
c.2807A>C (p.Gln936Pro)
c.2621A>C (p.Gln874Pro)
n.3217A>C
c.2912A>C (p.Gln971Pro)
c.2978A>C (p.Gln993Pro)
c.2930A>C (p.Gln977Pro)
c.2795A>C (p.Gln932Pro)
c.2896-102A>C (n.2896-102A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28836021A>GCA395409069ATXN2Lc.2984A>G (p.Gln995Arg)
c.959A>G (p.Gln320Arg)
n.3358A>G
c.179A>G (p.Gln60Arg)
c.3002A>G (p.Gln1001Arg)
c.2048A>G (n.2048A>G)
c.253A>G
c.962A>G (p.Gln321Arg)
c.504A>G
c.3005A>G (p.Gln1002Arg)
c.2987A>G (p.Gln996Arg)
c.2825A>G (p.Gln942Arg)
c.2933A>G (p.Gln978Arg)
c.2915A>G (p.Gln972Arg)
c.2639A>G (p.Gln880Arg)
n.3214A>G
c.2807A>G (p.Gln936Arg)
c.2621A>G (p.Gln874Arg)
n.3217A>G
c.2912A>G (p.Gln971Arg)
c.2978A>G (p.Gln993Arg)
c.2930A>G (p.Gln977Arg)
c.2795A>G (p.Gln932Arg)
c.2896-102A>G (n.2896-102A>G)
16g.28836021A>TCA395409071ATXN2Lc.2984A>T (p.Gln995Leu)
c.959A>T (p.Gln320Leu)
n.3358A>T
c.179A>T (p.Gln60Leu)
c.3002A>T (p.Gln1001Leu)
c.2048A>T (n.2048A>T)
c.253A>T
c.962A>T (p.Gln321Leu)
c.504A>T
c.3005A>T (p.Gln1002Leu)
c.2987A>T (p.Gln996Leu)
c.2825A>T (p.Gln942Leu)
c.2933A>T (p.Gln978Leu)
c.2915A>T (p.Gln972Leu)
c.2639A>T (p.Gln880Leu)
n.3214A>T
c.2807A>T (p.Gln936Leu)
c.2621A>T (p.Gln874Leu)
n.3217A>T
c.2912A>T (p.Gln971Leu)
c.2978A>T (p.Gln993Leu)
c.2930A>T (p.Gln977Leu)
c.2795A>T (p.Gln932Leu)
c.2896-102A>T (n.2896-102A>T)
16g.28836022G>ACA494868942ATXN2Lc.2985G>A (p.Gln995=)
c.960G>A (p.Gln320=)
n.3359G>A
c.180G>A (p.Gln60=)
c.3003G>A (p.Gln1001=)
c.2049G>A (n.2049G>A)
c.254G>A
c.963G>A (p.Gln321=)
c.505G>A
c.3006G>A (p.Gln1002=)
c.2988G>A (p.Gln996=)
c.2826G>A (p.Gln942=)
c.2934G>A (p.Gln978=)
c.2916G>A (p.Gln972=)
c.2640G>A (p.Gln880=)
n.3215G>A
c.2808G>A (p.Gln936=)
c.2622G>A (p.Gln874=)
n.3218G>A
c.2913G>A (p.Gln971=)
c.2979G>A (p.Gln993=)
c.2931G>A (p.Gln977=)
c.2796G>A (p.Gln932=)
c.2896-101G>A (n.2896-101G>A)
16g.28836022G>CCA395409073ATXN2Lc.2985G>C (p.Gln995His)
c.960G>C (p.Gln320His)
n.3359G>C
c.180G>C (p.Gln60His)
c.3003G>C (p.Gln1001His)
c.2049G>C (n.2049G>C)
c.254G>C
c.963G>C (p.Gln321His)
c.505G>C
c.3006G>C (p.Gln1002His)
c.2988G>C (p.Gln996His)
c.2826G>C (p.Gln942His)
c.2934G>C (p.Gln978His)
c.2916G>C (p.Gln972His)
c.2640G>C (p.Gln880His)
n.3215G>C
c.2808G>C (p.Gln936His)
c.2622G>C (p.Gln874His)
n.3218G>C
c.2913G>C (p.Gln971His)
c.2979G>C (p.Gln993His)
c.2931G>C (p.Gln977His)
c.2796G>C (p.Gln932His)
c.2896-101G>C (n.2896-101G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836022G=CA2215806818ATXN2Lc.2985G= (p.Gln995=)
c.960G= (p.Gln320=)
n.3359G=
c.180G= (p.Gln60=)
c.3003G= (p.Gln1001=)
c.2049G= (n.2049G=)
c.254G=
c.963G= (p.Gln321=)
c.505G=
c.3006G= (p.Gln1002=)
c.2988G= (p.Gln996=)
c.2826G= (p.Gln942=)
c.2934G= (p.Gln978=)
c.2916G= (p.Gln972=)
c.2640G= (p.Gln880=)
n.3215G=
c.2808G= (p.Gln936=)
c.2622G= (p.Gln874=)
n.3218G=
c.2913G= (p.Gln971=)
c.2979G= (p.Gln993=)
c.2931G= (p.Gln977=)
c.2796G= (p.Gln932=)
c.2896-101G= (n.2896-101G=)
16g.28836022G>TCA395409075ATXN2Lc.2985G>T (p.Gln995His)
c.960G>T (p.Gln320His)
n.3359G>T
c.180G>T (p.Gln60His)
c.3003G>T (p.Gln1001His)
c.2049G>T (n.2049G>T)
c.254G>T
c.963G>T (p.Gln321His)
c.505G>T
c.3006G>T (p.Gln1002His)
c.2988G>T (p.Gln996His)
c.2826G>T (p.Gln942His)
c.2934G>T (p.Gln978His)
c.2916G>T (p.Gln972His)
c.2640G>T (p.Gln880His)
n.3215G>T
c.2808G>T (p.Gln936His)
c.2622G>T (p.Gln874His)
n.3218G>T
c.2913G>T (p.Gln971His)
c.2979G>T (p.Gln993His)
c.2931G>T (p.Gln977His)
c.2796G>T (p.Gln932His)
c.2896-101G>T (n.2896-101G>T)
16g.28836023A>CCA395409076ATXN2Lc.2986A>C (p.Ser996Arg)
c.961A>C (p.Ser321Arg)
n.3360A>C
c.181A>C (p.Ser61Arg)
c.3004A>C (p.Ser1002Arg)
c.2050A>C (n.2050A>C)
c.255A>C
c.964A>C (p.Ser322Arg)
c.506A>C
c.3007A>C (p.Ser1003Arg)
c.2989A>C (p.Ser997Arg)
c.2827A>C (p.Ser943Arg)
c.2935A>C (p.Ser979Arg)
c.2917A>C (p.Ser973Arg)
c.2641A>C (p.Ser881Arg)
n.3216A>C
c.2809A>C (p.Ser937Arg)
c.2623A>C (p.Ser875Arg)
n.3219A>C
c.2914A>C (p.Ser972Arg)
c.2980A>C (p.Ser994Arg)
c.2932A>C (p.Ser978Arg)
c.2797A>C (p.Ser933Arg)
c.2896-100A>C (n.2896-100A>C)
16g.28836023A>GCA395409078ATXN2Lc.2986A>G (p.Ser996Gly)
c.961A>G (p.Ser321Gly)
n.3360A>G
c.181A>G (p.Ser61Gly)
c.3004A>G (p.Ser1002Gly)
c.2050A>G (n.2050A>G)
c.255A>G
c.964A>G (p.Ser322Gly)
c.506A>G
c.3007A>G (p.Ser1003Gly)
c.2989A>G (p.Ser997Gly)
c.2827A>G (p.Ser943Gly)
c.2935A>G (p.Ser979Gly)
c.2917A>G (p.Ser973Gly)
c.2641A>G (p.Ser881Gly)
n.3216A>G
c.2809A>G (p.Ser937Gly)
c.2623A>G (p.Ser875Gly)
n.3219A>G
c.2914A>G (p.Ser972Gly)
c.2980A>G (p.Ser994Gly)
c.2932A>G (p.Ser978Gly)
c.2797A>G (p.Ser933Gly)
c.2896-100A>G (n.2896-100A>G)
16g.28836023A>TCA395409080ATXN2Lc.2986A>T (p.Ser996Cys)
c.961A>T (p.Ser321Cys)
n.3360A>T
c.181A>T (p.Ser61Cys)
c.3004A>T (p.Ser1002Cys)
c.2050A>T (n.2050A>T)
c.255A>T
c.964A>T (p.Ser322Cys)
c.506A>T
c.3007A>T (p.Ser1003Cys)
c.2989A>T (p.Ser997Cys)
c.2827A>T (p.Ser943Cys)
c.2935A>T (p.Ser979Cys)
c.2917A>T (p.Ser973Cys)
c.2641A>T (p.Ser881Cys)
n.3216A>T
c.2809A>T (p.Ser937Cys)
c.2623A>T (p.Ser875Cys)
n.3219A>T
c.2914A>T (p.Ser972Cys)
c.2980A>T (p.Ser994Cys)
c.2932A>T (p.Ser978Cys)
c.2797A>T (p.Ser933Cys)
c.2896-100A>T (n.2896-100A>T)
16g.28836024G>ACA395409086ATXN2Lc.2987G>A (p.Ser996Asn)
c.962G>A (p.Ser321Asn)
n.3361G>A
c.182G>A (p.Ser61Asn)
c.3005G>A (p.Ser1002Asn)
c.2051G>A (n.2051G>A)
c.256G>A
c.965G>A (p.Ser322Asn)
c.507G>A
c.3008G>A (p.Ser1003Asn)
c.2990G>A (p.Ser997Asn)
c.2828G>A (p.Ser943Asn)
c.2936G>A (p.Ser979Asn)
c.2918G>A (p.Ser973Asn)
c.2642G>A (p.Ser881Asn)
n.3217G>A
c.2810G>A (p.Ser937Asn)
c.2624G>A (p.Ser875Asn)
n.3220G>A
c.2915G>A (p.Ser972Asn)
c.2981G>A (p.Ser994Asn)
c.2933G>A (p.Ser978Asn)
c.2798G>A (p.Ser933Asn)
c.2896-99G>A (n.2896-99G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.28836024G>CCA395409084ATXN2Lc.2987G>C (p.Ser996Thr)
c.962G>C (p.Ser321Thr)
n.3361G>C
c.182G>C (p.Ser61Thr)
c.3005G>C (p.Ser1002Thr)
c.2051G>C (n.2051G>C)
c.256G>C
c.965G>C (p.Ser322Thr)
c.507G>C
c.3008G>C (p.Ser1003Thr)
c.2990G>C (p.Ser997Thr)
c.2828G>C (p.Ser943Thr)
c.2936G>C (p.Ser979Thr)
c.2918G>C (p.Ser973Thr)
c.2642G>C (p.Ser881Thr)
n.3217G>C
c.2810G>C (p.Ser937Thr)
c.2624G>C (p.Ser875Thr)
n.3220G>C
c.2915G>C (p.Ser972Thr)
c.2981G>C (p.Ser994Thr)
c.2933G>C (p.Ser978Thr)
c.2798G>C (p.Ser933Thr)
c.2896-99G>C (n.2896-99G>C)
 gnomAD v4
16g.28836024G=CA2215806819ATXN2Lc.2987G= (p.Ser996=)
c.962G= (p.Ser321=)
n.3361G=
c.182G= (p.Ser61=)
c.3005G= (p.Ser1002=)
c.2051G= (n.2051G=)
c.256G=
c.965G= (p.Ser322=)
c.507G=
c.3008G= (p.Ser1003=)
c.2990G= (p.Ser997=)
c.2828G= (p.Ser943=)
c.2936G= (p.Ser979=)
c.2918G= (p.Ser973=)
c.2642G= (p.Ser881=)
n.3217G=
c.2810G= (p.Ser937=)
c.2624G= (p.Ser875=)
n.3220G=
c.2915G= (p.Ser972=)
c.2981G= (p.Ser994=)
c.2933G= (p.Ser978=)
c.2798G= (p.Ser933=)
c.2896-99G= (n.2896-99G=)
16g.28836024G>TCA395409082ATXN2Lc.2987G>T (p.Ser996Ile)
c.962G>T (p.Ser321Ile)
n.3361G>T
c.182G>T (p.Ser61Ile)
c.3005G>T (p.Ser1002Ile)
c.2051G>T (n.2051G>T)
c.256G>T
c.965G>T (p.Ser322Ile)
c.507G>T
c.3008G>T (p.Ser1003Ile)
c.2990G>T (p.Ser997Ile)
c.2828G>T (p.Ser943Ile)
c.2936G>T (p.Ser979Ile)
c.2918G>T (p.Ser973Ile)
c.2642G>T (p.Ser881Ile)
n.3217G>T
c.2810G>T (p.Ser937Ile)
c.2624G>T (p.Ser875Ile)
n.3220G>T
c.2915G>T (p.Ser972Ile)
c.2981G>T (p.Ser994Ile)
c.2933G>T (p.Ser978Ile)
c.2798G>T (p.Ser933Ile)
c.2896-99G>T (n.2896-99G>T)
16g.28836025T>ACA395409088ATXN2Lc.2988T>A (p.Ser996Arg)
c.963T>A (p.Ser321Arg)
n.3362T>A
c.183T>A (p.Ser61Arg)
c.3006T>A (p.Ser1002Arg)
c.2052T>A (n.2052T>A)
c.257T>A
c.966T>A (p.Ser322Arg)
c.508T>A
c.3009T>A (p.Ser1003Arg)
c.2991T>A (p.Ser997Arg)
c.2829T>A (p.Ser943Arg)
c.2937T>A (p.Ser979Arg)
c.2919T>A (p.Ser973Arg)
c.2643T>A (p.Ser881Arg)
n.3218T>A
c.2811T>A (p.Ser937Arg)
c.2625T>A (p.Ser875Arg)
n.3221T>A
c.2916T>A (p.Ser972Arg)
c.2982T>A (p.Ser994Arg)
c.2934T>A (p.Ser978Arg)
c.2799T>A (p.Ser933Arg)
c.2896-98T>A (n.2896-98T>A)
16g.28836025T>CCA494868979ATXN2Lc.2988T>C (p.Ser996=)
c.963T>C (p.Ser321=)
n.3362T>C
c.183T>C (p.Ser61=)
c.3006T>C (p.Ser1002=)
c.2052T>C (n.2052T>C)
c.257T>C
c.966T>C (p.Ser322=)
c.508T>C
c.3009T>C (p.Ser1003=)
c.2991T>C (p.Ser997=)
c.2829T>C (p.Ser943=)
c.2937T>C (p.Ser979=)
c.2919T>C (p.Ser973=)
c.2643T>C (p.Ser881=)
n.3218T>C
c.2811T>C (p.Ser937=)
c.2625T>C (p.Ser875=)
n.3221T>C
c.2916T>C (p.Ser972=)
c.2982T>C (p.Ser994=)
c.2934T>C (p.Ser978=)
c.2799T>C (p.Ser933=)
c.2896-98T>C (n.2896-98T>C)
 COSMIC COSMIC COSMIC COSMIC
16g.28836025T>GCA395409089ATXN2Lc.2988T>G (p.Ser996Arg)
c.963T>G (p.Ser321Arg)
n.3362T>G
c.183T>G (p.Ser61Arg)
c.3006T>G (p.Ser1002Arg)
c.2052T>G (n.2052T>G)
c.257T>G
c.966T>G (p.Ser322Arg)
c.508T>G
c.3009T>G (p.Ser1003Arg)
c.2991T>G (p.Ser997Arg)
c.2829T>G (p.Ser943Arg)
c.2937T>G (p.Ser979Arg)
c.2919T>G (p.Ser973Arg)
c.2643T>G (p.Ser881Arg)
n.3218T>G
c.2811T>G (p.Ser937Arg)
c.2625T>G (p.Ser875Arg)
n.3221T>G
c.2916T>G (p.Ser972Arg)
c.2982T>G (p.Ser994Arg)
c.2934T>G (p.Ser978Arg)
c.2799T>G (p.Ser933Arg)
c.2896-98T>G (n.2896-98T>G)
16g.28836026C>ACA395409092ATXN2Lc.2989C>A (p.His997Asn)
c.964C>A (p.His322Asn)
n.3363C>A
c.184C>A (p.His62Asn)
c.3007C>A (p.His1003Asn)
c.2053C>A (n.2053C>A)
c.258C>A
c.967C>A (p.His323Asn)
c.509C>A
c.3010C>A (p.His1004Asn)
c.2992C>A (p.His998Asn)
c.2830C>A (p.His944Asn)
c.2938C>A (p.His980Asn)
c.2920C>A (p.His974Asn)
c.2644C>A (p.His882Asn)
n.3219C>A
c.2812C>A (p.His938Asn)
c.2626C>A (p.His876Asn)
n.3222C>A
c.2917C>A (p.His973Asn)
c.2983C>A (p.His995Asn)
c.2935C>A (p.His979Asn)
c.2800C>A (p.His934Asn)
c.2896-97C>A (n.2896-97C>A)
 gnomAD v4
16g.28836026C>GCA395409095ATXN2Lc.2989C>G (p.His997Asp)
c.964C>G (p.His322Asp)
n.3363C>G
c.184C>G (p.His62Asp)
c.3007C>G (p.His1003Asp)
c.2053C>G (n.2053C>G)
c.258C>G
c.967C>G (p.His323Asp)
c.509C>G
c.3010C>G (p.His1004Asp)
c.2992C>G (p.His998Asp)
c.2830C>G (p.His944Asp)
c.2938C>G (p.His980Asp)
c.2920C>G (p.His974Asp)
c.2644C>G (p.His882Asp)
n.3219C>G
c.2812C>G (p.His938Asp)
c.2626C>G (p.His876Asp)
n.3222C>G
c.2917C>G (p.His973Asp)
c.2983C>G (p.His995Asp)
c.2935C>G (p.His979Asp)
c.2800C>G (p.His934Asp)
c.2896-97C>G (n.2896-97C>G)
16g.28836026C>TCA395409094ATXN2Lc.2989C>T (p.His997Tyr)
c.964C>T (p.His322Tyr)
n.3363C>T
c.184C>T (p.His62Tyr)
c.3007C>T (p.His1003Tyr)
c.2053C>T (n.2053C>T)
c.258C>T
c.967C>T (p.His323Tyr)
c.509C>T
c.3010C>T (p.His1004Tyr)
c.2992C>T (p.His998Tyr)
c.2830C>T (p.His944Tyr)
c.2938C>T (p.His980Tyr)
c.2920C>T (p.His974Tyr)
c.2644C>T (p.His882Tyr)
n.3219C>T
c.2812C>T (p.His938Tyr)
c.2626C>T (p.His876Tyr)
n.3222C>T
c.2917C>T (p.His973Tyr)
c.2983C>T (p.His995Tyr)
c.2935C>T (p.His979Tyr)
c.2800C>T (p.His934Tyr)
c.2896-97C>T (n.2896-97C>T)
 gnomAD v4
16g.28836027A=CA2215806821ATXN2Lc.2990A= (p.His997=)
c.965A= (p.His322=)
n.3364A=
c.185A= (p.His62=)
c.3008A= (p.His1003=)
c.2054A= (n.2054A=)
c.259A=
c.968A= (p.His323=)
c.510A=
c.3011A= (p.His1004=)
c.2993A= (p.His998=)
c.2831A= (p.His944=)
c.2939A= (p.His980=)
c.2921A= (p.His974=)
c.2645A= (p.His882=)
n.3220A=
c.2813A= (p.His938=)
c.2627A= (p.His876=)
n.3223A=
c.2918A= (p.His973=)
c.2984A= (p.His995=)
c.2936A= (p.His979=)
c.2801A= (p.His934=)
c.2896-96A= (n.2896-96A=)
16g.28836027A>CCA395409098ATXN2Lc.2990A>C (p.His997Pro)
c.965A>C (p.His322Pro)
n.3364A>C
c.185A>C (p.His62Pro)
c.3008A>C (p.His1003Pro)
c.2054A>C (n.2054A>C)
c.259A>C
c.968A>C (p.His323Pro)
c.510A>C
c.3011A>C (p.His1004Pro)
c.2993A>C (p.His998Pro)
c.2831A>C (p.His944Pro)
c.2939A>C (p.His980Pro)
c.2921A>C (p.His974Pro)
c.2645A>C (p.His882Pro)
n.3220A>C
c.2813A>C (p.His938Pro)
c.2627A>C (p.His876Pro)
n.3223A>C
c.2918A>C (p.His973Pro)
c.2984A>C (p.His995Pro)
c.2936A>C (p.His979Pro)
c.2801A>C (p.His934Pro)
c.2896-96A>C (n.2896-96A>C)
 dbSNP
16g.28836027A>GCA395409100ATXN2Lc.2990A>G (p.His997Arg)
c.965A>G (p.His322Arg)
n.3364A>G
c.185A>G (p.His62Arg)
c.3008A>G (p.His1003Arg)
c.2054A>G (n.2054A>G)
c.259A>G
c.968A>G (p.His323Arg)
c.510A>G
c.3011A>G (p.His1004Arg)
c.2993A>G (p.His998Arg)
c.2831A>G (p.His944Arg)
c.2939A>G (p.His980Arg)
c.2921A>G (p.His974Arg)
c.2645A>G (p.His882Arg)
n.3220A>G
c.2813A>G (p.His938Arg)
c.2627A>G (p.His876Arg)
n.3223A>G
c.2918A>G (p.His973Arg)
c.2984A>G (p.His995Arg)
c.2936A>G (p.His979Arg)
c.2801A>G (p.His934Arg)
c.2896-96A>G (n.2896-96A>G)
 gnomAD v4
16g.28836027A>TCA395409101ATXN2Lc.2990A>T (p.His997Leu)
c.965A>T (p.His322Leu)
n.3364A>T
c.185A>T (p.His62Leu)
c.3008A>T (p.His1003Leu)
c.2054A>T (n.2054A>T)
c.259A>T
c.968A>T (p.His323Leu)
c.510A>T
c.3011A>T (p.His1004Leu)
c.2993A>T (p.His998Leu)
c.2831A>T (p.His944Leu)
c.2939A>T (p.His980Leu)
c.2921A>T (p.His974Leu)
c.2645A>T (p.His882Leu)
n.3220A>T
c.2813A>T (p.His938Leu)
c.2627A>T (p.His876Leu)
n.3223A>T
c.2918A>T (p.His973Leu)
c.2984A>T (p.His995Leu)
c.2936A>T (p.His979Leu)
c.2801A>T (p.His934Leu)
c.2896-96A>T (n.2896-96A>T)
16g.28836028T>ACA395409103ATXN2Lc.2991T>A (p.His997Gln)
c.966T>A (p.His322Gln)
n.3365T>A
c.186T>A (p.His62Gln)
c.3009T>A (p.His1003Gln)
c.2055T>A (n.2055T>A)
c.260T>A
c.969T>A (p.His323Gln)
c.511T>A
c.3012T>A (p.His1004Gln)
c.2994T>A (p.His998Gln)
c.2832T>A (p.His944Gln)
c.2940T>A (p.His980Gln)
c.2922T>A (p.His974Gln)
c.2646T>A (p.His882Gln)
n.3221T>A
c.2814T>A (p.His938Gln)
c.2628T>A (p.His876Gln)
n.3224T>A
c.2919T>A (p.His973Gln)
c.2985T>A (p.His995Gln)
c.2937T>A (p.His979Gln)
c.2802T>A (p.His934Gln)
c.2896-95T>A (n.2896-95T>A)
 dbSNP gnomAD v4
16g.28836028T>CCA494869008ATXN2Lc.2991T>C (p.His997=)
c.966T>C (p.His322=)
n.3365T>C
c.186T>C (p.His62=)
c.3009T>C (p.His1003=)
c.2055T>C (n.2055T>C)
c.260T>C
c.969T>C (p.His323=)
c.511T>C
c.3012T>C (p.His1004=)
c.2994T>C (p.His998=)
c.2832T>C (p.His944=)
c.2940T>C (p.His980=)
c.2922T>C (p.His974=)
c.2646T>C (p.His882=)
n.3221T>C
c.2814T>C (p.His938=)
c.2628T>C (p.His876=)
n.3224T>C
c.2919T>C (p.His973=)
c.2985T>C (p.His995=)
c.2937T>C (p.His979=)
c.2802T>C (p.His934=)
c.2896-95T>C (n.2896-95T>C)
 gnomAD v4
16g.28836028T>GCA395409105ATXN2Lc.2991T>G (p.His997Gln)
c.966T>G (p.His322Gln)
n.3365T>G
c.186T>G (p.His62Gln)
c.3009T>G (p.His1003Gln)
c.2055T>G (n.2055T>G)
c.260T>G
c.969T>G (p.His323Gln)
c.511T>G
c.3012T>G (p.His1004Gln)
c.2994T>G (p.His998Gln)
c.2832T>G (p.His944Gln)
c.2940T>G (p.His980Gln)
c.2922T>G (p.His974Gln)
c.2646T>G (p.His882Gln)
n.3221T>G
c.2814T>G (p.His938Gln)
c.2628T>G (p.His876Gln)
n.3224T>G
c.2919T>G (p.His973Gln)
c.2985T>G (p.His995Gln)
c.2937T>G (p.His979Gln)
c.2802T>G (p.His934Gln)
c.2896-95T>G (n.2896-95T>G)
16g.28836028_28836031delinsTGGGCA2215806823ATXN2Lc.2991_2994delinsTGGG (p.His997=)
c.966_969delinsTGGG (p.His322=)
n.3365_3368delinsTGGG
c.186_189delinsTGGG (p.His62=)
c.3009_3012delinsTGGG (p.His1003=)
c.2055_2058delinsTGGG (n.2055_2058delinsTGGG)
c.260_263delinsTGGG
c.969_972delinsTGGG (p.His323=)
c.511_514delinsTGGG
c.3012_3015delinsTGGG (p.His1004=)
c.2994_2997delinsTGGG (p.His998=)
c.2832_2835delinsTGGG (p.His944=)
c.2940_2943delinsTGGG (p.His980=)
c.2922_2925delinsTGGG (p.His974=)
c.2646_2649delinsTGGG (p.His882=)
n.3221_3224delinsTGGG
c.2814_2817delinsTGGG (p.His938=)
c.2628_2631delinsTGGG (p.His876=)
n.3224_3227delinsTGGG
c.2919_2922delinsTGGG (p.His973=)
c.2985_2988delinsTGGG (p.His995=)
c.2937_2940delinsTGGG (p.His979=)
c.2802_2805delinsTGGG (p.His934=)
c.2896-95_2896-92delinsTGGG (n.2896-95_2896-92delinsTGGG)
16g.28836029G>ACA395409107ATXN2Lc.2992G>A (p.Gly998Arg)
c.967G>A (p.Gly323Arg)
n.3366G>A
c.187G>A (p.Gly63Arg)
c.3010G>A (p.Gly1004Arg)
c.2056G>A (n.2056G>A)
c.261G>A
c.970G>A (p.Gly324Arg)
c.512G>A
c.3013G>A (p.Gly1005Arg)
c.2995G>A (p.Gly999Arg)
c.2833G>A (p.Gly945Arg)
c.2941G>A (p.Gly981Arg)
c.2923G>A (p.Gly975Arg)
c.2647G>A (p.Gly883Arg)
n.3222G>A
c.2815G>A (p.Gly939Arg)
c.2629G>A (p.Gly877Arg)
n.3225G>A
c.2920G>A (p.Gly974Arg)
c.2986G>A (p.Gly996Arg)
c.2938G>A (p.Gly980Arg)
c.2803G>A (p.Gly935Arg)
c.2896-94G>A (n.2896-94G>A)
 gnomAD v4
16g.28836029G>CCA395409109ATXN2Lc.2992G>C (p.Gly998Arg)
c.967G>C (p.Gly323Arg)
n.3366G>C
c.187G>C (p.Gly63Arg)
c.3010G>C (p.Gly1004Arg)
c.2056G>C (n.2056G>C)
c.261G>C
c.970G>C (p.Gly324Arg)
c.512G>C
c.3013G>C (p.Gly1005Arg)
c.2995G>C (p.Gly999Arg)
c.2833G>C (p.Gly945Arg)
c.2941G>C (p.Gly981Arg)
c.2923G>C (p.Gly975Arg)
c.2647G>C (p.Gly883Arg)
n.3222G>C
c.2815G>C (p.Gly939Arg)
c.2629G>C (p.Gly877Arg)
n.3225G>C
c.2920G>C (p.Gly974Arg)
c.2986G>C (p.Gly996Arg)
c.2938G>C (p.Gly980Arg)
c.2803G>C (p.Gly935Arg)
c.2896-94G>C (n.2896-94G>C)
16g.28836029G>TCA395409111ATXN2Lc.2992G>T (p.Gly998Trp)
c.967G>T (p.Gly323Trp)
n.3366G>T
c.187G>T (p.Gly63Trp)
c.3010G>T (p.Gly1004Trp)
c.2056G>T (n.2056G>T)
c.261G>T
c.970G>T (p.Gly324Trp)
c.512G>T
c.3013G>T (p.Gly1005Trp)
c.2995G>T (p.Gly999Trp)
c.2833G>T (p.Gly945Trp)
c.2941G>T (p.Gly981Trp)
c.2923G>T (p.Gly975Trp)
c.2647G>T (p.Gly883Trp)
n.3222G>T
c.2815G>T (p.Gly939Trp)
c.2629G>T (p.Gly877Trp)
n.3225G>T
c.2920G>T (p.Gly974Trp)
c.2986G>T (p.Gly996Trp)
c.2938G>T (p.Gly980Trp)
c.2803G>T (p.Gly935Trp)
c.2896-94G>T (n.2896-94G>T)
16g.28836034dupCA2632529237ATXN2Lc.2997dup (p.Pro1000AlafsTer?)
c.972dup (p.Pro325AlafsTer?)
n.3371dup
c.192dup (p.Pro65AlafsTer?)
c.3015dup (p.Pro1006AlafsTer?)
c.2061dup (n.2061dup)
c.266dup
c.975dup (p.Pro326AlafsTer?)
c.517dup
c.3018dup (p.Pro1007AlafsTer?)
c.3000dup (p.Pro1001AlafsTer?)
c.2838dup (p.Pro947AlafsTer?)
c.2946dup (p.Pro983AlafsTer?)
c.2928dup (p.Pro977AlafsTer?)
c.2652dup (p.Pro885AlafsTer?)
n.3227dup
c.2820dup (p.Pro941AlafsTer?)
c.2634dup (p.Pro879AlafsTer?)
n.3230dup
c.2925dup (p.Pro976AlafsTer?)
c.2991dup (p.Pro998AlafsTer?)
c.2943dup (p.Pro982AlafsTer?)
c.2808dup (p.Pro937AlafsTer?)
c.2896-89dup (n.2896-89dup)
 gnomAD v4
16g.28836034delCA395409113ATXN2Lc.2997del (p.Gln1002LysfsTer?)
c.972del (p.Gln327LysfsTer?)
n.3371del
c.192del (p.Gln67LysfsTer?)
c.3015del (p.Gln1008LysfsTer?)
c.2061del (n.2061del)
c.266del
c.975del (p.Gln328LysfsTer?)
c.517del
c.3018del (p.Gln1009LysfsTer?)
c.3000del (p.Gln1003LysfsTer?)
c.2838del (p.Gln949LysfsTer?)
c.2946del (p.Gln985LysfsTer?)
c.2928del (p.Gln979LysfsTer?)
c.2652del (p.Gln887LysfsTer?)
n.3227del
c.2820del (p.Gln943LysfsTer?)
c.2634del (p.Gln881LysfsTer?)
n.3230del
c.2925del (p.Gln978LysfsTer?)
c.2991del (p.Gln1000LysfsTer?)
c.2943del (p.Gln984LysfsTer?)
c.2808del (p.Gln939LysfsTer?)
c.2896-89del (n.2896-89del)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836032_28836034delCA2215806827ATXN2Lc.2995_2997del (p.Gly999del)
c.970_972del (p.Gly324del)
n.3369_3371del
c.190_192del (p.Gly64del)
c.3013_3015del (p.Gly1005del)
c.2059_2061del (n.2059_2061del)
c.264_266del
c.973_975del (p.Gly325del)
c.515_517del
c.3016_3018del (p.Gly1006del)
c.2998_3000del (p.Gly1000del)
c.2836_2838del (p.Gly946del)
c.2944_2946del (p.Gly982del)
c.2926_2928del (p.Gly976del)
c.2650_2652del (p.Gly884del)
n.3225_3227del
c.2818_2820del (p.Gly940del)
c.2632_2634del (p.Gly878del)
n.3228_3230del
c.2923_2925del (p.Gly975del)
c.2989_2991del (p.Gly997del)
c.2941_2943del (p.Gly981del)
c.2806_2808del (p.Gly936del)
c.2896-91_2896-89del (n.2896-91_2896-89del)
 dbSNP
16g.28836030G>ACA395409115ATXN2Lc.2993G>A (p.Gly998Glu)
c.968G>A (p.Gly323Glu)
n.3367G>A
c.188G>A (p.Gly63Glu)
c.3011G>A (p.Gly1004Glu)
c.2057G>A (n.2057G>A)
c.262G>A
c.971G>A (p.Gly324Glu)
c.513G>A
c.3014G>A (p.Gly1005Glu)
c.2996G>A (p.Gly999Glu)
c.2834G>A (p.Gly945Glu)
c.2942G>A (p.Gly981Glu)
c.2924G>A (p.Gly975Glu)
c.2648G>A (p.Gly883Glu)
n.3223G>A
c.2816G>A (p.Gly939Glu)
c.2630G>A (p.Gly877Glu)
n.3226G>A
c.2921G>A (p.Gly974Glu)
c.2987G>A (p.Gly996Glu)
c.2939G>A (p.Gly980Glu)
c.2804G>A (p.Gly935Glu)
c.2896-93G>A (n.2896-93G>A)
 gnomAD v4
16g.28836030G>CCA395409117ATXN2Lc.2993G>C (p.Gly998Ala)
c.968G>C (p.Gly323Ala)
n.3367G>C
c.188G>C (p.Gly63Ala)
c.3011G>C (p.Gly1004Ala)
c.2057G>C (n.2057G>C)
c.262G>C
c.971G>C (p.Gly324Ala)
c.513G>C
c.3014G>C (p.Gly1005Ala)
c.2996G>C (p.Gly999Ala)
c.2834G>C (p.Gly945Ala)
c.2942G>C (p.Gly981Ala)
c.2924G>C (p.Gly975Ala)
c.2648G>C (p.Gly883Ala)
n.3223G>C
c.2816G>C (p.Gly939Ala)
c.2630G>C (p.Gly877Ala)
n.3226G>C
c.2921G>C (p.Gly974Ala)
c.2987G>C (p.Gly996Ala)
c.2939G>C (p.Gly980Ala)
c.2804G>C (p.Gly935Ala)
c.2896-93G>C (n.2896-93G>C)
 gnomAD v4
16g.28836030G>TCA395409119ATXN2Lc.2993G>T (p.Gly998Val)
c.968G>T (p.Gly323Val)
n.3367G>T
c.188G>T (p.Gly63Val)
c.3011G>T (p.Gly1004Val)
c.2057G>T (n.2057G>T)
c.262G>T
c.971G>T (p.Gly324Val)
c.513G>T
c.3014G>T (p.Gly1005Val)
c.2996G>T (p.Gly999Val)
c.2834G>T (p.Gly945Val)
c.2942G>T (p.Gly981Val)
c.2924G>T (p.Gly975Val)
c.2648G>T (p.Gly883Val)
n.3223G>T
c.2816G>T (p.Gly939Val)
c.2630G>T (p.Gly877Val)
n.3226G>T
c.2921G>T (p.Gly974Val)
c.2987G>T (p.Gly996Val)
c.2939G>T (p.Gly980Val)
c.2804G>T (p.Gly935Val)
c.2896-93G>T (n.2896-93G>T)
16g.28836031G>ACA494869047ATXN2Lc.2994G>A (p.Gly998=)
c.969G>A (p.Gly323=)
n.3368G>A
c.189G>A (p.Gly63=)
c.3012G>A (p.Gly1004=)
c.2058G>A (n.2058G>A)
c.263G>A
c.972G>A (p.Gly324=)
c.514G>A
c.3015G>A (p.Gly1005=)
c.2997G>A (p.Gly999=)
c.2835G>A (p.Gly945=)
c.2943G>A (p.Gly981=)
c.2925G>A (p.Gly975=)
c.2649G>A (p.Gly883=)
n.3224G>A
c.2817G>A (p.Gly939=)
c.2631G>A (p.Gly877=)
n.3227G>A
c.2922G>A (p.Gly974=)
c.2988G>A (p.Gly996=)
c.2940G>A (p.Gly980=)
c.2805G>A (p.Gly935=)
c.2896-92G>A (n.2896-92G>A)
 gnomAD v4
16g.28836031G>CCA494869049ATXN2Lc.2994G>C (p.Gly998=)
c.969G>C (p.Gly323=)
n.3368G>C
c.189G>C (p.Gly63=)
c.3012G>C (p.Gly1004=)
c.2058G>C (n.2058G>C)
c.263G>C
c.972G>C (p.Gly324=)
c.514G>C
c.3015G>C (p.Gly1005=)
c.2997G>C (p.Gly999=)
c.2835G>C (p.Gly945=)
c.2943G>C (p.Gly981=)
c.2925G>C (p.Gly975=)
c.2649G>C (p.Gly883=)
n.3224G>C
c.2817G>C (p.Gly939=)
c.2631G>C (p.Gly877=)
n.3227G>C
c.2922G>C (p.Gly974=)
c.2988G>C (p.Gly996=)
c.2940G>C (p.Gly980=)
c.2805G>C (p.Gly935=)
c.2896-92G>C (n.2896-92G>C)
16g.28836031G>TCA494869053ATXN2Lc.2994G>T (p.Gly998=)
c.969G>T (p.Gly323=)
n.3368G>T
c.189G>T (p.Gly63=)
c.3012G>T (p.Gly1004=)
c.2058G>T (n.2058G>T)
c.263G>T
c.972G>T (p.Gly324=)
c.514G>T
c.3015G>T (p.Gly1005=)
c.2997G>T (p.Gly999=)
c.2835G>T (p.Gly945=)
c.2943G>T (p.Gly981=)
c.2925G>T (p.Gly975=)
c.2649G>T (p.Gly883=)
n.3224G>T
c.2817G>T (p.Gly939=)
c.2631G>T (p.Gly877=)
n.3227G>T
c.2922G>T (p.Gly974=)
c.2988G>T (p.Gly996=)
c.2940G>T (p.Gly980=)
c.2805G>T (p.Gly935=)
c.2896-92G>T (n.2896-92G>T)
16g.28836032G>ACA395409121ATXN2Lc.2995G>A (p.Gly999Arg)
c.970G>A (p.Gly324Arg)
n.3369G>A
c.190G>A (p.Gly64Arg)
c.3013G>A (p.Gly1005Arg)
c.2059G>A (n.2059G>A)
c.264G>A
c.973G>A (p.Gly325Arg)
c.515G>A
c.3016G>A (p.Gly1006Arg)
c.2998G>A (p.Gly1000Arg)
c.2836G>A (p.Gly946Arg)
c.2944G>A (p.Gly982Arg)
c.2926G>A (p.Gly976Arg)
c.2650G>A (p.Gly884Arg)
n.3225G>A
c.2818G>A (p.Gly940Arg)
c.2632G>A (p.Gly878Arg)
n.3228G>A
c.2923G>A (p.Gly975Arg)
c.2989G>A (p.Gly997Arg)
c.2941G>A (p.Gly981Arg)
c.2806G>A (p.Gly936Arg)
c.2896-91G>A (n.2896-91G>A)
16g.28836032G>CCA395409125ATXN2Lc.2995G>C (p.Gly999Arg)
c.970G>C (p.Gly324Arg)
n.3369G>C
c.190G>C (p.Gly64Arg)
c.3013G>C (p.Gly1005Arg)
c.2059G>C (n.2059G>C)
c.264G>C
c.973G>C (p.Gly325Arg)
c.515G>C
c.3016G>C (p.Gly1006Arg)
c.2998G>C (p.Gly1000Arg)
c.2836G>C (p.Gly946Arg)
c.2944G>C (p.Gly982Arg)
c.2926G>C (p.Gly976Arg)
c.2650G>C (p.Gly884Arg)
n.3225G>C
c.2818G>C (p.Gly940Arg)
c.2632G>C (p.Gly878Arg)
n.3228G>C
c.2923G>C (p.Gly975Arg)
c.2989G>C (p.Gly997Arg)
c.2941G>C (p.Gly981Arg)
c.2806G>C (p.Gly936Arg)
c.2896-91G>C (n.2896-91G>C)
16g.28836032G>TCA395409123ATXN2Lc.2995G>T (p.Gly999Trp)
c.970G>T (p.Gly324Trp)
n.3369G>T
c.190G>T (p.Gly64Trp)
c.3013G>T (p.Gly1005Trp)
c.2059G>T (n.2059G>T)
c.264G>T
c.973G>T (p.Gly325Trp)
c.515G>T
c.3016G>T (p.Gly1006Trp)
c.2998G>T (p.Gly1000Trp)
c.2836G>T (p.Gly946Trp)
c.2944G>T (p.Gly982Trp)
c.2926G>T (p.Gly976Trp)
c.2650G>T (p.Gly884Trp)
n.3225G>T
c.2818G>T (p.Gly940Trp)
c.2632G>T (p.Gly878Trp)
n.3228G>T
c.2923G>T (p.Gly975Trp)
c.2989G>T (p.Gly997Trp)
c.2941G>T (p.Gly981Trp)
c.2806G>T (p.Gly936Trp)
c.2896-91G>T (n.2896-91G>T)
16g.28836033G>ACA395409127ATXN2Lc.2996G>A (p.Gly999Glu)
c.971G>A (p.Gly324Glu)
n.3370G>A
c.191G>A (p.Gly64Glu)
c.3014G>A (p.Gly1005Glu)
c.2060G>A (n.2060G>A)
c.265G>A
c.974G>A (p.Gly325Glu)
c.516G>A
c.3017G>A (p.Gly1006Glu)
c.2999G>A (p.Gly1000Glu)
c.2837G>A (p.Gly946Glu)
c.2945G>A (p.Gly982Glu)
c.2927G>A (p.Gly976Glu)
c.2651G>A (p.Gly884Glu)
n.3226G>A
c.2819G>A (p.Gly940Glu)
c.2633G>A (p.Gly878Glu)
n.3229G>A
c.2924G>A (p.Gly975Glu)
c.2990G>A (p.Gly997Glu)
c.2942G>A (p.Gly981Glu)
c.2807G>A (p.Gly936Glu)
c.2896-90G>A (n.2896-90G>A)
16g.28836033G>CCA395409129ATXN2Lc.2996G>C (p.Gly999Ala)
c.971G>C (p.Gly324Ala)
n.3370G>C
c.191G>C (p.Gly64Ala)
c.3014G>C (p.Gly1005Ala)
c.2060G>C (n.2060G>C)
c.265G>C
c.974G>C (p.Gly325Ala)
c.516G>C
c.3017G>C (p.Gly1006Ala)
c.2999G>C (p.Gly1000Ala)
c.2837G>C (p.Gly946Ala)
c.2945G>C (p.Gly982Ala)
c.2927G>C (p.Gly976Ala)
c.2651G>C (p.Gly884Ala)
n.3226G>C
c.2819G>C (p.Gly940Ala)
c.2633G>C (p.Gly878Ala)
n.3229G>C
c.2924G>C (p.Gly975Ala)
c.2990G>C (p.Gly997Ala)
c.2942G>C (p.Gly981Ala)
c.2807G>C (p.Gly936Ala)
c.2896-90G>C (n.2896-90G>C)
16g.28836033G>TCA395409131ATXN2Lc.2996G>T (p.Gly999Val)
c.971G>T (p.Gly324Val)
n.3370G>T
c.191G>T (p.Gly64Val)
c.3014G>T (p.Gly1005Val)
c.2060G>T (n.2060G>T)
c.265G>T
c.974G>T (p.Gly325Val)
c.516G>T
c.3017G>T (p.Gly1006Val)
c.2999G>T (p.Gly1000Val)
c.2837G>T (p.Gly946Val)
c.2945G>T (p.Gly982Val)
c.2927G>T (p.Gly976Val)
c.2651G>T (p.Gly884Val)
n.3226G>T
c.2819G>T (p.Gly940Val)
c.2633G>T (p.Gly878Val)
n.3229G>T
c.2924G>T (p.Gly975Val)
c.2990G>T (p.Gly997Val)
c.2942G>T (p.Gly981Val)
c.2807G>T (p.Gly936Val)
c.2896-90G>T (n.2896-90G>T)
 gnomAD v4
16g.28836034G>ACA7985153ATXN2Lc.2997G>A (p.Gly999=)
c.972G>A (p.Gly324=)
n.3371G>A
c.192G>A (p.Gly64=)
c.3015G>A (p.Gly1005=)
c.2061G>A (n.2061G>A)
c.266G>A
c.975G>A (p.Gly325=)
c.517G>A
c.3018G>A (p.Gly1006=)
c.3000G>A (p.Gly1000=)
c.2838G>A (p.Gly946=)
c.2946G>A (p.Gly982=)
c.2928G>A (p.Gly976=)
c.2652G>A (p.Gly884=)
n.3227G>A
c.2820G>A (p.Gly940=)
c.2634G>A (p.Gly878=)
n.3230G>A
c.2925G>A (p.Gly975=)
c.2991G>A (p.Gly997=)
c.2943G>A (p.Gly981=)
c.2808G>A (p.Gly936=)
c.2896-89G>A (n.2896-89G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836034G>CCA7985152ATXN2Lc.2997G>C (p.Gly999=)
c.972G>C (p.Gly324=)
n.3371G>C
c.192G>C (p.Gly64=)
c.3015G>C (p.Gly1005=)
c.2061G>C (n.2061G>C)
c.266G>C
c.975G>C (p.Gly325=)
c.517G>C
c.3018G>C (p.Gly1006=)
c.3000G>C (p.Gly1000=)
c.2838G>C (p.Gly946=)
c.2946G>C (p.Gly982=)
c.2928G>C (p.Gly976=)
c.2652G>C (p.Gly884=)
n.3227G>C
c.2820G>C (p.Gly940=)
c.2634G>C (p.Gly878=)
n.3230G>C
c.2925G>C (p.Gly975=)
c.2991G>C (p.Gly997=)
c.2943G>C (p.Gly981=)
c.2808G>C (p.Gly936=)
c.2896-89G>C (n.2896-89G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836034G=CA2215806833ATXN2Lc.2997G= (p.Gly999=)
c.972G= (p.Gly324=)
n.3371G=
c.192G= (p.Gly64=)
c.3015G= (p.Gly1005=)
c.2061G= (n.2061G=)
c.266G=
c.975G= (p.Gly325=)
c.517G=
c.3018G= (p.Gly1006=)
c.3000G= (p.Gly1000=)
c.2838G= (p.Gly946=)
c.2946G= (p.Gly982=)
c.2928G= (p.Gly976=)
c.2652G= (p.Gly884=)
n.3227G=
c.2820G= (p.Gly940=)
c.2634G= (p.Gly878=)
n.3230G=
c.2925G= (p.Gly975=)
c.2991G= (p.Gly997=)
c.2943G= (p.Gly981=)
c.2808G= (p.Gly936=)
c.2896-89G= (n.2896-89G=)
16g.28836034G>TCA279230902ATXN2Lc.2997G>T (p.Gly999=)
c.972G>T (p.Gly324=)
n.3371G>T
c.192G>T (p.Gly64=)
c.3015G>T (p.Gly1005=)
c.2061G>T (n.2061G>T)
c.266G>T
c.975G>T (p.Gly325=)
c.517G>T
c.3018G>T (p.Gly1006=)
c.3000G>T (p.Gly1000=)
c.2838G>T (p.Gly946=)
c.2946G>T (p.Gly982=)
c.2928G>T (p.Gly976=)
c.2652G>T (p.Gly884=)
n.3227G>T
c.2820G>T (p.Gly940=)
c.2634G>T (p.Gly878=)
n.3230G>T
c.2925G>T (p.Gly975=)
c.2991G>T (p.Gly997=)
c.2943G>T (p.Gly981=)
c.2808G>T (p.Gly936=)
c.2896-89G>T (n.2896-89G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836034_28836035delinsGCCA2215806832ATXN2Lc.2997_2998delinsGC (p.Gly999=)
c.972_973delinsGC (p.Gly324=)
n.3371_3372delinsGC
c.192_193delinsGC (p.Gly64=)
c.3015_3016delinsGC (p.Gly1005=)
c.2061_2062delinsGC (n.2061_2062delinsGC)
c.266_267delinsGC
c.975_976delinsGC (p.Gly325=)
c.517_518delinsGC
c.3018_3019delinsGC (p.Gly1006=)
c.3000_3001delinsGC (p.Gly1000=)
c.2838_2839delinsGC (p.Gly946=)
c.2946_2947delinsGC (p.Gly982=)
c.2928_2929delinsGC (p.Gly976=)
c.2652_2653delinsGC (p.Gly884=)
n.3227_3228delinsGC
c.2820_2821delinsGC (p.Gly940=)
c.2634_2635delinsGC (p.Gly878=)
n.3230_3231delinsGC
c.2925_2926delinsGC (p.Gly975=)
c.2991_2992delinsGC (p.Gly997=)
c.2943_2944delinsGC (p.Gly981=)
c.2808_2809delinsGC (p.Gly936=)
c.2896-89_2896-88delinsGC (n.2896-89_2896-88delinsGC)
16g.28836039_28836056dupCA2632529252ATXN2Lc.3002_3019dup (p.Pro1006_Gln1007insProGlnGlyAlaValPro)
c.977_994dup (p.Pro331_Gln332insProGlnGlyAlaValPro)
n.3376_3393dup
c.197_214dup (p.Pro71_Gln72insProGlnGlyAlaValPro)
c.3020_3037dup (p.Pro1012_Gln1013insProGlnGlyAlaValPro)
c.2066_2083dup (n.2066_2083dup)
c.271_288dup
c.980_997dup (p.Pro332_Gln333insProGlnGlyAlaValPro)
c.522_539dup
c.3023_3040dup (p.Pro1013_Gln1014insProGlnGlyAlaValPro)
c.3005_3022dup (p.Pro1007_Gln1008insProGlnGlyAlaValPro)
c.2843_2860dup (p.Pro953_Gln954insProGlnGlyAlaValPro)
c.2951_2968dup (p.Pro989_Gln990insProGlnGlyAlaValPro)
c.2933_2950dup (p.Pro983_Gln984insProGlnGlyAlaValPro)
c.2657_2674dup (p.Pro891_Gln892insProGlnGlyAlaValPro)
n.3232_3249dup
c.2825_2842dup (p.Pro947_Gln948insProGlnGlyAlaValPro)
c.2639_2656dup (p.Pro885_Gln886insProGlnGlyAlaValPro)
n.3235_3252dup
c.2930_2947dup (p.Pro982_Gln983insProGlnGlyAlaValPro)
c.2996_3013dup (p.Pro1004_Gln1005insProGlnGlyAlaValPro)
c.2948_2965dup (p.Pro988_Gln989insProGlnGlyAlaValPro)
c.2813_2830dup (p.Pro943_Gln944insProGlnGlyAlaValPro)
c.2896-84_2896-67dup (n.2896-84_2896-67dup)
 gnomAD v4
16g.28836035C>ACA395409137ATXN2Lc.2998C>A (p.Pro1000Thr)
c.973C>A (p.Pro325Thr)
n.3372C>A
c.193C>A (p.Pro65Thr)
c.3016C>A (p.Pro1006Thr)
c.2062C>A (n.2062C>A)
c.267C>A
c.976C>A (p.Pro326Thr)
c.518C>A
c.3019C>A (p.Pro1007Thr)
c.3001C>A (p.Pro1001Thr)
c.2839C>A (p.Pro947Thr)
c.2947C>A (p.Pro983Thr)
c.2929C>A (p.Pro977Thr)
c.2653C>A (p.Pro885Thr)
n.3228C>A
c.2821C>A (p.Pro941Thr)
c.2635C>A (p.Pro879Thr)
n.3231C>A
c.2926C>A (p.Pro976Thr)
c.2992C>A (p.Pro998Thr)
c.2944C>A (p.Pro982Thr)
c.2809C>A (p.Pro937Thr)
c.2896-88C>A (n.2896-88C>A)
 gnomAD v4
16g.28836035C=CA2215806841ATXN2Lc.2998C= (p.Pro1000=)
c.973C= (p.Pro325=)
n.3372C=
c.193C= (p.Pro65=)
c.3016C= (p.Pro1006=)
c.2062C= (n.2062C=)
c.267C=
c.976C= (p.Pro326=)
c.518C=
c.3019C= (p.Pro1007=)
c.3001C= (p.Pro1001=)
c.2839C= (p.Pro947=)
c.2947C= (p.Pro983=)
c.2929C= (p.Pro977=)
c.2653C= (p.Pro885=)
n.3228C=
c.2821C= (p.Pro941=)
c.2635C= (p.Pro879=)
n.3231C=
c.2926C= (p.Pro976=)
c.2992C= (p.Pro998=)
c.2944C= (p.Pro982=)
c.2809C= (p.Pro937=)
c.2896-88C= (n.2896-88C=)
16g.28836035C>GCA395409139ATXN2Lc.2998C>G (p.Pro1000Ala)
c.973C>G (p.Pro325Ala)
n.3372C>G
c.193C>G (p.Pro65Ala)
c.3016C>G (p.Pro1006Ala)
c.2062C>G (n.2062C>G)
c.267C>G
c.976C>G (p.Pro326Ala)
c.518C>G
c.3019C>G (p.Pro1007Ala)
c.3001C>G (p.Pro1001Ala)
c.2839C>G (p.Pro947Ala)
c.2947C>G (p.Pro983Ala)
c.2929C>G (p.Pro977Ala)
c.2653C>G (p.Pro885Ala)
n.3228C>G
c.2821C>G (p.Pro941Ala)
c.2635C>G (p.Pro879Ala)
n.3231C>G
c.2926C>G (p.Pro976Ala)
c.2992C>G (p.Pro998Ala)
c.2944C>G (p.Pro982Ala)
c.2809C>G (p.Pro937Ala)
c.2896-88C>G (n.2896-88C>G)
 dbSNP gnomAD v4
16g.28836035C>TCA395409140ATXN2Lc.2998C>T (p.Pro1000Ser)
c.973C>T (p.Pro325Ser)
n.3372C>T
c.193C>T (p.Pro65Ser)
c.3016C>T (p.Pro1006Ser)
c.2062C>T (n.2062C>T)
c.267C>T
c.976C>T (p.Pro326Ser)
c.518C>T
c.3019C>T (p.Pro1007Ser)
c.3001C>T (p.Pro1001Ser)
c.2839C>T (p.Pro947Ser)
c.2947C>T (p.Pro983Ser)
c.2929C>T (p.Pro977Ser)
c.2653C>T (p.Pro885Ser)
n.3228C>T
c.2821C>T (p.Pro941Ser)
c.2635C>T (p.Pro879Ser)
n.3231C>T
c.2926C>T (p.Pro976Ser)
c.2992C>T (p.Pro998Ser)
c.2944C>T (p.Pro982Ser)
c.2809C>T (p.Pro937Ser)
c.2896-88C>T (n.2896-88C>T)
 gnomAD v4
16g.28836041dupCA7985151ATXN2Lc.3004dup (p.Gln1002ProfsTer29)
c.3004dup (p.Gln1002ProfsTer?)
c.979dup (p.Gln327ProfsTer29)
n.3378dup
c.199dup (p.Gln67ProfsTer?)
c.3022dup (p.Gln1008ProfsTer29)
c.2068dup (n.2068dup)
c.273dup
c.982dup (p.Gln328ProfsTer29)
c.524dup
c.3025dup (p.Gln1009ProfsTer29)
c.3007dup (p.Gln1003ProfsTer29)
c.3025dup (p.Gln1009ProfsTer30)
c.3025dup (p.Gln1009ProfsTer?)
c.3022dup (p.Gln1008ProfsTer?)
c.2845dup (p.Gln949ProfsTer29)
c.2953dup (p.Gln985ProfsTer29)
c.2935dup (p.Gln979ProfsTer29)
c.2659dup (p.Gln887ProfsTer29)
n.3234dup
c.2827dup (p.Gln943ProfsTer29)
c.2641dup (p.Gln881ProfsTer29)
n.3237dup
c.3022dup (p.Gln1008ProfsTer30)
c.3007dup (p.Gln1003ProfsTer30)
c.3004dup (p.Gln1002ProfsTer30)
c.2932dup (p.Gln978ProfsTer29)
c.2998dup (p.Gln1000ProfsTer29)
c.2932dup (p.Gln978ProfsTer30)
c.3007dup (p.Gln1003ProfsTer?)
c.2950dup (p.Gln984ProfsTer29)
c.2935dup (p.Gln979ProfsTer?)
c.2950dup (p.Gln984ProfsTer?)
c.2932dup (p.Gln978ProfsTer?)
c.2815dup (p.Gln939ProfsTer29)
c.2896-82dup (n.2896-82dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836040_28836041dupCA2806421858ATXN2Lc.3003_3004dup (p.Gln1002ProfsTer?)
c.978_979dup (p.Gln327ProfsTer?)
n.3377_3378dup
c.198_199dup (p.Gln67ProfsTer?)
c.3021_3022dup (p.Gln1008ProfsTer?)
c.2067_2068dup (n.2067_2068dup)
c.272_273dup
c.981_982dup (p.Gln328ProfsTer?)
c.523_524dup
c.3024_3025dup (p.Gln1009ProfsTer?)
c.3006_3007dup (p.Gln1003ProfsTer?)
c.2844_2845dup (p.Gln949ProfsTer?)
c.2952_2953dup (p.Gln985ProfsTer?)
c.2934_2935dup (p.Gln979ProfsTer?)
c.2658_2659dup (p.Gln887ProfsTer?)
n.3233_3234dup
c.2826_2827dup (p.Gln943ProfsTer?)
c.2640_2641dup (p.Gln881ProfsTer?)
n.3236_3237dup
c.2931_2932dup (p.Gln978ProfsTer?)
c.2997_2998dup (p.Gln1000ProfsTer?)
c.2949_2950dup (p.Gln984ProfsTer?)
c.2814_2815dup (p.Gln939ProfsTer?)
c.2896-83_2896-82dup (n.2896-83_2896-82dup)
16g.28836041delCA494869091ATXN2Lc.3004del (p.Gln1002LysfsTer?)
c.979del (p.Gln327LysfsTer?)
n.3378del
c.199del (p.Gln67LysfsTer?)
c.3022del (p.Gln1008LysfsTer?)
c.2068del (n.2068del)
c.273del
c.982del (p.Gln328LysfsTer?)
c.524del
c.3025del (p.Gln1009LysfsTer?)
c.3007del (p.Gln1003LysfsTer?)
c.2845del (p.Gln949LysfsTer?)
c.2953del (p.Gln985LysfsTer?)
c.2935del (p.Gln979LysfsTer?)
c.2659del (p.Gln887LysfsTer?)
n.3234del
c.2827del (p.Gln943LysfsTer?)
c.2641del (p.Gln881LysfsTer?)
n.3237del
c.2932del (p.Gln978LysfsTer?)
c.2998del (p.Gln1000LysfsTer?)
c.2950del (p.Gln984LysfsTer?)
c.2815del (p.Gln939LysfsTer?)
c.2896-82del (n.2896-82del)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836036C>ACA395409145ATXN2Lc.2999C>A (p.Pro1000His)
c.974C>A (p.Pro325His)
n.3373C>A
c.194C>A (p.Pro65His)
c.3017C>A (p.Pro1006His)
c.2063C>A (n.2063C>A)
c.268C>A
c.977C>A (p.Pro326His)
c.519C>A
c.3020C>A (p.Pro1007His)
c.3002C>A (p.Pro1001His)
c.2840C>A (p.Pro947His)
c.2948C>A (p.Pro983His)
c.2930C>A (p.Pro977His)
c.2654C>A (p.Pro885His)
n.3229C>A
c.2822C>A (p.Pro941His)
c.2636C>A (p.Pro879His)
n.3232C>A
c.2927C>A (p.Pro976His)
c.2993C>A (p.Pro998His)
c.2945C>A (p.Pro982His)
c.2810C>A (p.Pro937His)
c.2896-87C>A (n.2896-87C>A)
 dbSNP gnomAD v4
16g.28836036C=CA2215806844ATXN2Lc.2999C= (p.Pro1000=)
c.974C= (p.Pro325=)
n.3373C=
c.194C= (p.Pro65=)
c.3017C= (p.Pro1006=)
c.2063C= (n.2063C=)
c.268C=
c.977C= (p.Pro326=)
c.519C=
c.3020C= (p.Pro1007=)
c.3002C= (p.Pro1001=)
c.2840C= (p.Pro947=)
c.2948C= (p.Pro983=)
c.2930C= (p.Pro977=)
c.2654C= (p.Pro885=)
n.3229C=
c.2822C= (p.Pro941=)
c.2636C= (p.Pro879=)
n.3232C=
c.2927C= (p.Pro976=)
c.2993C= (p.Pro998=)
c.2945C= (p.Pro982=)
c.2810C= (p.Pro937=)
c.2896-87C= (n.2896-87C=)
16g.28836036C>GCA395409146ATXN2Lc.2999C>G (p.Pro1000Arg)
c.974C>G (p.Pro325Arg)
n.3373C>G
c.194C>G (p.Pro65Arg)
c.3017C>G (p.Pro1006Arg)
c.2063C>G (n.2063C>G)
c.268C>G
c.977C>G (p.Pro326Arg)
c.519C>G
c.3020C>G (p.Pro1007Arg)
c.3002C>G (p.Pro1001Arg)
c.2840C>G (p.Pro947Arg)
c.2948C>G (p.Pro983Arg)
c.2930C>G (p.Pro977Arg)
c.2654C>G (p.Pro885Arg)
n.3229C>G
c.2822C>G (p.Pro941Arg)
c.2636C>G (p.Pro879Arg)
n.3232C>G
c.2927C>G (p.Pro976Arg)
c.2993C>G (p.Pro998Arg)
c.2945C>G (p.Pro982Arg)
c.2810C>G (p.Pro937Arg)
c.2896-87C>G (n.2896-87C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28836036C>TCA395409143ATXN2Lc.2999C>T (p.Pro1000Leu)
c.974C>T (p.Pro325Leu)
n.3373C>T
c.194C>T (p.Pro65Leu)
c.3017C>T (p.Pro1006Leu)
c.2063C>T (n.2063C>T)
c.268C>T
c.977C>T (p.Pro326Leu)
c.519C>T
c.3020C>T (p.Pro1007Leu)
c.3002C>T (p.Pro1001Leu)
c.2840C>T (p.Pro947Leu)
c.2948C>T (p.Pro983Leu)
c.2930C>T (p.Pro977Leu)
c.2654C>T (p.Pro885Leu)
n.3229C>T
c.2822C>T (p.Pro941Leu)
c.2636C>T (p.Pro879Leu)
n.3232C>T
c.2927C>T (p.Pro976Leu)
c.2993C>T (p.Pro998Leu)
c.2945C>T (p.Pro982Leu)
c.2810C>T (p.Pro937Leu)
c.2896-87C>T (n.2896-87C>T)
 gnomAD v4
16g.28836037C>ACA494869102ATXN2Lc.3000C>A (p.Pro1000=)
c.975C>A (p.Pro325=)
n.3374C>A
c.195C>A (p.Pro65=)
c.3018C>A (p.Pro1006=)
c.2064C>A (n.2064C>A)
c.269C>A
c.978C>A (p.Pro326=)
c.520C>A
c.3021C>A (p.Pro1007=)
c.3003C>A (p.Pro1001=)
c.2841C>A (p.Pro947=)
c.2949C>A (p.Pro983=)
c.2931C>A (p.Pro977=)
c.2655C>A (p.Pro885=)
n.3230C>A
c.2823C>A (p.Pro941=)
c.2637C>A (p.Pro879=)
n.3233C>A
c.2928C>A (p.Pro976=)
c.2994C>A (p.Pro998=)
c.2946C>A (p.Pro982=)
c.2811C>A (p.Pro937=)
c.2896-86C>A (n.2896-86C>A)
16g.28836037C=CA2215806847ATXN2Lc.3000C= (p.Pro1000=)
c.975C= (p.Pro325=)
n.3374C=
c.195C= (p.Pro65=)
c.3018C= (p.Pro1006=)
c.2064C= (n.2064C=)
c.269C=
c.978C= (p.Pro326=)
c.520C=
c.3021C= (p.Pro1007=)
c.3003C= (p.Pro1001=)
c.2841C= (p.Pro947=)
c.2949C= (p.Pro983=)
c.2931C= (p.Pro977=)
c.2655C= (p.Pro885=)
n.3230C=
c.2823C= (p.Pro941=)
c.2637C= (p.Pro879=)
n.3233C=
c.2928C= (p.Pro976=)
c.2994C= (p.Pro998=)
c.2946C= (p.Pro982=)
c.2811C= (p.Pro937=)
c.2896-86C= (n.2896-86C=)
16g.28836037C>GCA494869105ATXN2Lc.3000C>G (p.Pro1000=)
c.975C>G (p.Pro325=)
n.3374C>G
c.195C>G (p.Pro65=)
c.3018C>G (p.Pro1006=)
c.2064C>G (n.2064C>G)
c.269C>G
c.978C>G (p.Pro326=)
c.520C>G
c.3021C>G (p.Pro1007=)
c.3003C>G (p.Pro1001=)
c.2841C>G (p.Pro947=)
c.2949C>G (p.Pro983=)
c.2931C>G (p.Pro977=)
c.2655C>G (p.Pro885=)
n.3230C>G
c.2823C>G (p.Pro941=)
c.2637C>G (p.Pro879=)
n.3233C>G
c.2928C>G (p.Pro976=)
c.2994C>G (p.Pro998=)
c.2946C>G (p.Pro982=)
c.2811C>G (p.Pro937=)
c.2896-86C>G (n.2896-86C>G)
16g.28836037C>TCA494869109ATXN2Lc.3000C>T (p.Pro1000=)
c.975C>T (p.Pro325=)
n.3374C>T
c.195C>T (p.Pro65=)
c.3018C>T (p.Pro1006=)
c.2064C>T (n.2064C>T)
c.269C>T
c.978C>T (p.Pro326=)
c.520C>T
c.3021C>T (p.Pro1007=)
c.3003C>T (p.Pro1001=)
c.2841C>T (p.Pro947=)
c.2949C>T (p.Pro983=)
c.2931C>T (p.Pro977=)
c.2655C>T (p.Pro885=)
n.3230C>T
c.2823C>T (p.Pro941=)
c.2637C>T (p.Pro879=)
n.3233C>T
c.2928C>T (p.Pro976=)
c.2994C>T (p.Pro998=)
c.2946C>T (p.Pro982=)
c.2811C>T (p.Pro937=)
c.2896-86C>T (n.2896-86C>T)
 dbSNP gnomAD v4
16g.28836038C>ACA7985154ATXN2Lc.3001C>A (p.Pro1001Thr)
c.976C>A (p.Pro326Thr)
n.3375C>A
c.196C>A (p.Pro66Thr)
c.3019C>A (p.Pro1007Thr)
c.2065C>A (n.2065C>A)
c.270C>A
c.979C>A (p.Pro327Thr)
c.521C>A
c.3022C>A (p.Pro1008Thr)
c.3004C>A (p.Pro1002Thr)
c.2842C>A (p.Pro948Thr)
c.2950C>A (p.Pro984Thr)
c.2932C>A (p.Pro978Thr)
c.2656C>A (p.Pro886Thr)
n.3231C>A
c.2824C>A (p.Pro942Thr)
c.2638C>A (p.Pro880Thr)
n.3234C>A
c.2929C>A (p.Pro977Thr)
c.2995C>A (p.Pro999Thr)
c.2947C>A (p.Pro983Thr)
c.2812C>A (p.Pro938Thr)
c.2896-85C>A (n.2896-85C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836038C=CA2215806850ATXN2Lc.3001C= (p.Pro1001=)
c.976C= (p.Pro326=)
n.3375C=
c.196C= (p.Pro66=)
c.3019C= (p.Pro1007=)
c.2065C= (n.2065C=)
c.270C=
c.979C= (p.Pro327=)
c.521C=
c.3022C= (p.Pro1008=)
c.3004C= (p.Pro1002=)
c.2842C= (p.Pro948=)
c.2950C= (p.Pro984=)
c.2932C= (p.Pro978=)
c.2656C= (p.Pro886=)
n.3231C=
c.2824C= (p.Pro942=)
c.2638C= (p.Pro880=)
n.3234C=
c.2929C= (p.Pro977=)
c.2995C= (p.Pro999=)
c.2947C= (p.Pro983=)
c.2812C= (p.Pro938=)
c.2896-85C= (n.2896-85C=)
16g.28836038C>GCA395409149ATXN2Lc.3001C>G (p.Pro1001Ala)
c.976C>G (p.Pro326Ala)
n.3375C>G
c.196C>G (p.Pro66Ala)
c.3019C>G (p.Pro1007Ala)
c.2065C>G (n.2065C>G)
c.270C>G
c.979C>G (p.Pro327Ala)
c.521C>G
c.3022C>G (p.Pro1008Ala)
c.3004C>G (p.Pro1002Ala)
c.2842C>G (p.Pro948Ala)
c.2950C>G (p.Pro984Ala)
c.2932C>G (p.Pro978Ala)
c.2656C>G (p.Pro886Ala)
n.3231C>G
c.2824C>G (p.Pro942Ala)
c.2638C>G (p.Pro880Ala)
n.3234C>G
c.2929C>G (p.Pro977Ala)
c.2995C>G (p.Pro999Ala)
c.2947C>G (p.Pro983Ala)
c.2812C>G (p.Pro938Ala)
c.2896-85C>G (n.2896-85C>G)
16g.28836038C>TCA395409151ATXN2Lc.3001C>T (p.Pro1001Ser)
c.976C>T (p.Pro326Ser)
n.3375C>T
c.196C>T (p.Pro66Ser)
c.3019C>T (p.Pro1007Ser)
c.2065C>T (n.2065C>T)
c.270C>T
c.979C>T (p.Pro327Ser)
c.521C>T
c.3022C>T (p.Pro1008Ser)
c.3004C>T (p.Pro1002Ser)
c.2842C>T (p.Pro948Ser)
c.2950C>T (p.Pro984Ser)
c.2932C>T (p.Pro978Ser)
c.2656C>T (p.Pro886Ser)
n.3231C>T
c.2824C>T (p.Pro942Ser)
c.2638C>T (p.Pro880Ser)
n.3234C>T
c.2929C>T (p.Pro977Ser)
c.2995C>T (p.Pro999Ser)
c.2947C>T (p.Pro983Ser)
c.2812C>T (p.Pro938Ser)
c.2896-85C>T (n.2896-85C>T)
16g.28836039C>ACA395409153ATXN2Lc.3002C>A (p.Pro1001His)
c.977C>A (p.Pro326His)
n.3376C>A
c.197C>A (p.Pro66His)
c.3020C>A (p.Pro1007His)
c.2066C>A (n.2066C>A)
c.271C>A
c.980C>A (p.Pro327His)
c.522C>A
c.3023C>A (p.Pro1008His)
c.3005C>A (p.Pro1002His)
c.2843C>A (p.Pro948His)
c.2951C>A (p.Pro984His)
c.2933C>A (p.Pro978His)
c.2657C>A (p.Pro886His)
n.3232C>A
c.2825C>A (p.Pro942His)
c.2639C>A (p.Pro880His)
n.3235C>A
c.2930C>A (p.Pro977His)
c.2996C>A (p.Pro999His)
c.2948C>A (p.Pro983His)
c.2813C>A (p.Pro938His)
c.2896-84C>A (n.2896-84C>A)
 gnomAD v4
16g.28836039C>GCA395409157ATXN2Lc.3002C>G (p.Pro1001Arg)
c.977C>G (p.Pro326Arg)
n.3376C>G
c.197C>G (p.Pro66Arg)
c.3020C>G (p.Pro1007Arg)
c.2066C>G (n.2066C>G)
c.271C>G
c.980C>G (p.Pro327Arg)
c.522C>G
c.3023C>G (p.Pro1008Arg)
c.3005C>G (p.Pro1002Arg)
c.2843C>G (p.Pro948Arg)
c.2951C>G (p.Pro984Arg)
c.2933C>G (p.Pro978Arg)
c.2657C>G (p.Pro886Arg)
n.3232C>G
c.2825C>G (p.Pro942Arg)
c.2639C>G (p.Pro880Arg)
n.3235C>G
c.2930C>G (p.Pro977Arg)
c.2996C>G (p.Pro999Arg)
c.2948C>G (p.Pro983Arg)
c.2813C>G (p.Pro938Arg)
c.2896-84C>G (n.2896-84C>G)
 COSMIC COSMIC COSMIC COSMIC
16g.28836039C>TCA395409159ATXN2Lc.3002C>T (p.Pro1001Leu)
c.977C>T (p.Pro326Leu)
n.3376C>T
c.197C>T (p.Pro66Leu)
c.3020C>T (p.Pro1007Leu)
c.2066C>T (n.2066C>T)
c.271C>T
c.980C>T (p.Pro327Leu)
c.522C>T
c.3023C>T (p.Pro1008Leu)
c.3005C>T (p.Pro1002Leu)
c.2843C>T (p.Pro948Leu)
c.2951C>T (p.Pro984Leu)
c.2933C>T (p.Pro978Leu)
c.2657C>T (p.Pro886Leu)
n.3232C>T
c.2825C>T (p.Pro942Leu)
c.2639C>T (p.Pro880Leu)
n.3235C>T
c.2930C>T (p.Pro977Leu)
c.2996C>T (p.Pro999Leu)
c.2948C>T (p.Pro983Leu)
c.2813C>T (p.Pro938Leu)
c.2896-84C>T (n.2896-84C>T)
 gnomAD v4
16g.28836040C>ACA494869135ATXN2Lc.3003C>A (p.Pro1001=)
c.978C>A (p.Pro326=)
n.3377C>A
c.198C>A (p.Pro66=)
c.3021C>A (p.Pro1007=)
c.2067C>A (n.2067C>A)
c.272C>A
c.981C>A (p.Pro327=)
c.523C>A
c.3024C>A (p.Pro1008=)
c.3006C>A (p.Pro1002=)
c.2844C>A (p.Pro948=)
c.2952C>A (p.Pro984=)
c.2934C>A (p.Pro978=)
c.2658C>A (p.Pro886=)
n.3233C>A
c.2826C>A (p.Pro942=)
c.2640C>A (p.Pro880=)
n.3236C>A
c.2931C>A (p.Pro977=)
c.2997C>A (p.Pro999=)
c.2949C>A (p.Pro983=)
c.2814C>A (p.Pro938=)
c.2896-83C>A (n.2896-83C>A)
 dbSNP
16g.28836040C=CA2215806853ATXN2Lc.3003C= (p.Pro1001=)
c.978C= (p.Pro326=)
n.3377C=
c.198C= (p.Pro66=)
c.3021C= (p.Pro1007=)
c.2067C= (n.2067C=)
c.272C=
c.981C= (p.Pro327=)
c.523C=
c.3024C= (p.Pro1008=)
c.3006C= (p.Pro1002=)
c.2844C= (p.Pro948=)
c.2952C= (p.Pro984=)
c.2934C= (p.Pro978=)
c.2658C= (p.Pro886=)
n.3233C=
c.2826C= (p.Pro942=)
c.2640C= (p.Pro880=)
n.3236C=
c.2931C= (p.Pro977=)
c.2997C= (p.Pro999=)
c.2949C= (p.Pro983=)
c.2814C= (p.Pro938=)
c.2896-83C= (n.2896-83C=)
16g.28836040C>GCA494869136ATXN2Lc.3003C>G (p.Pro1001=)
c.978C>G (p.Pro326=)
n.3377C>G
c.198C>G (p.Pro66=)
c.3021C>G (p.Pro1007=)
c.2067C>G (n.2067C>G)
c.272C>G
c.981C>G (p.Pro327=)
c.523C>G
c.3024C>G (p.Pro1008=)
c.3006C>G (p.Pro1002=)
c.2844C>G (p.Pro948=)
c.2952C>G (p.Pro984=)
c.2934C>G (p.Pro978=)
c.2658C>G (p.Pro886=)
n.3233C>G
c.2826C>G (p.Pro942=)
c.2640C>G (p.Pro880=)
n.3236C>G
c.2931C>G (p.Pro977=)
c.2997C>G (p.Pro999=)
c.2949C>G (p.Pro983=)
c.2814C>G (p.Pro938=)
c.2896-83C>G (n.2896-83C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836040C>TCA494869137ATXN2Lc.3003C>T (p.Pro1001=)
c.978C>T (p.Pro326=)
n.3377C>T
c.198C>T (p.Pro66=)
c.3021C>T (p.Pro1007=)
c.2067C>T (n.2067C>T)
c.272C>T
c.981C>T (p.Pro327=)
c.523C>T
c.3024C>T (p.Pro1008=)
c.3006C>T (p.Pro1002=)
c.2844C>T (p.Pro948=)
c.2952C>T (p.Pro984=)
c.2934C>T (p.Pro978=)
c.2658C>T (p.Pro886=)
n.3233C>T
c.2826C>T (p.Pro942=)
c.2640C>T (p.Pro880=)
n.3236C>T
c.2931C>T (p.Pro977=)
c.2997C>T (p.Pro999=)
c.2949C>T (p.Pro983=)
c.2814C>T (p.Pro938=)
c.2896-83C>T (n.2896-83C>T)
16g.28836041C>ACA395409165ATXN2Lc.3004C>A (p.Gln1002Lys)
c.979C>A (p.Gln327Lys)
n.3378C>A
c.199C>A (p.Gln67Lys)
c.3022C>A (p.Gln1008Lys)
c.2068C>A (n.2068C>A)
c.273C>A
c.982C>A (p.Gln328Lys)
c.524C>A
c.3025C>A (p.Gln1009Lys)
c.3007C>A (p.Gln1003Lys)
c.2845C>A (p.Gln949Lys)
c.2953C>A (p.Gln985Lys)
c.2935C>A (p.Gln979Lys)
c.2659C>A (p.Gln887Lys)
n.3234C>A
c.2827C>A (p.Gln943Lys)
c.2641C>A (p.Gln881Lys)
n.3237C>A
c.2932C>A (p.Gln978Lys)
c.2998C>A (p.Gln1000Lys)
c.2950C>A (p.Gln984Lys)
c.2815C>A (p.Gln939Lys)
c.2896-82C>A (n.2896-82C>A)
 gnomAD v4
16g.28836041C>GCA395409162ATXN2Lc.3004C>G (p.Gln1002Glu)
c.979C>G (p.Gln327Glu)
n.3378C>G
c.199C>G (p.Gln67Glu)
c.3022C>G (p.Gln1008Glu)
c.2068C>G (n.2068C>G)
c.273C>G
c.982C>G (p.Gln328Glu)
c.524C>G
c.3025C>G (p.Gln1009Glu)
c.3007C>G (p.Gln1003Glu)
c.2845C>G (p.Gln949Glu)
c.2953C>G (p.Gln985Glu)
c.2935C>G (p.Gln979Glu)
c.2659C>G (p.Gln887Glu)
n.3234C>G
c.2827C>G (p.Gln943Glu)
c.2641C>G (p.Gln881Glu)
n.3237C>G
c.2932C>G (p.Gln978Glu)
c.2998C>G (p.Gln1000Glu)
c.2950C>G (p.Gln984Glu)
c.2815C>G (p.Gln939Glu)
c.2896-82C>G (n.2896-82C>G)
16g.28836041C>TCA395409164ATXN2Lc.3004C>T (p.Gln1002Ter)
c.979C>T (p.Gln327Ter)
n.3378C>T
c.199C>T (p.Gln67Ter)
c.3022C>T (p.Gln1008Ter)
c.2068C>T (n.2068C>T)
c.273C>T
c.982C>T (p.Gln328Ter)
c.524C>T
c.3025C>T (p.Gln1009Ter)
c.3007C>T (p.Gln1003Ter)
c.2845C>T (p.Gln949Ter)
c.2953C>T (p.Gln985Ter)
c.2935C>T (p.Gln979Ter)
c.2659C>T (p.Gln887Ter)
n.3234C>T
c.2827C>T (p.Gln943Ter)
c.2641C>T (p.Gln881Ter)
n.3237C>T
c.2932C>T (p.Gln978Ter)
c.2998C>T (p.Gln1000Ter)
c.2950C>T (p.Gln984Ter)
c.2815C>T (p.Gln939Ter)
c.2896-82C>T (n.2896-82C>T)
16g.28836042A=CA2215806857ATXN2Lc.3005A= (p.Gln1002=)
c.980A= (p.Gln327=)
n.3379A=
c.200A= (p.Gln67=)
c.3023A= (p.Gln1008=)
c.2069A= (n.2069A=)
c.274A=
c.983A= (p.Gln328=)
c.525A=
c.3026A= (p.Gln1009=)
c.3008A= (p.Gln1003=)
c.2846A= (p.Gln949=)
c.2954A= (p.Gln985=)
c.2936A= (p.Gln979=)
c.2660A= (p.Gln887=)
n.3235A=
c.2828A= (p.Gln943=)
c.2642A= (p.Gln881=)
n.3238A=
c.2933A= (p.Gln978=)
c.2999A= (p.Gln1000=)
c.2951A= (p.Gln984=)
c.2816A= (p.Gln939=)
c.2896-81A= (n.2896-81A=)
16g.28836042A>CCA395409167ATXN2Lc.3005A>C (p.Gln1002Pro)
c.980A>C (p.Gln327Pro)
n.3379A>C
c.200A>C (p.Gln67Pro)
c.3023A>C (p.Gln1008Pro)
c.2069A>C (n.2069A>C)
c.274A>C
c.983A>C (p.Gln328Pro)
c.525A>C
c.3026A>C (p.Gln1009Pro)
c.3008A>C (p.Gln1003Pro)
c.2846A>C (p.Gln949Pro)
c.2954A>C (p.Gln985Pro)
c.2936A>C (p.Gln979Pro)
c.2660A>C (p.Gln887Pro)
n.3235A>C
c.2828A>C (p.Gln943Pro)
c.2642A>C (p.Gln881Pro)
n.3238A>C
c.2933A>C (p.Gln978Pro)
c.2999A>C (p.Gln1000Pro)
c.2951A>C (p.Gln984Pro)
c.2816A>C (p.Gln939Pro)
c.2896-81A>C (n.2896-81A>C)
 dbSNP gnomAD v4
16g.28836042A>GCA395409168ATXN2Lc.3005A>G (p.Gln1002Arg)
c.980A>G (p.Gln327Arg)
n.3379A>G
c.200A>G (p.Gln67Arg)
c.3023A>G (p.Gln1008Arg)
c.2069A>G (n.2069A>G)
c.274A>G
c.983A>G (p.Gln328Arg)
c.525A>G
c.3026A>G (p.Gln1009Arg)
c.3008A>G (p.Gln1003Arg)
c.2846A>G (p.Gln949Arg)
c.2954A>G (p.Gln985Arg)
c.2936A>G (p.Gln979Arg)
c.2660A>G (p.Gln887Arg)
n.3235A>G
c.2828A>G (p.Gln943Arg)
c.2642A>G (p.Gln881Arg)
n.3238A>G
c.2933A>G (p.Gln978Arg)
c.2999A>G (p.Gln1000Arg)
c.2951A>G (p.Gln984Arg)
c.2816A>G (p.Gln939Arg)
c.2896-81A>G (n.2896-81A>G)
16g.28836042A>TCA395409169ATXN2Lc.3005A>T (p.Gln1002Leu)
c.980A>T (p.Gln327Leu)
n.3379A>T
c.200A>T (p.Gln67Leu)
c.3023A>T (p.Gln1008Leu)
c.2069A>T (n.2069A>T)
c.274A>T
c.983A>T (p.Gln328Leu)
c.525A>T
c.3026A>T (p.Gln1009Leu)
c.3008A>T (p.Gln1003Leu)
c.2846A>T (p.Gln949Leu)
c.2954A>T (p.Gln985Leu)
c.2936A>T (p.Gln979Leu)
c.2660A>T (p.Gln887Leu)
n.3235A>T
c.2828A>T (p.Gln943Leu)
c.2642A>T (p.Gln881Leu)
n.3238A>T
c.2933A>T (p.Gln978Leu)
c.2999A>T (p.Gln1000Leu)
c.2951A>T (p.Gln984Leu)
c.2816A>T (p.Gln939Leu)
c.2896-81A>T (n.2896-81A>T)
 dbSNP
16g.28836043A>CCA395409171ATXN2Lc.3006A>C (p.Gln1002His)
c.981A>C (p.Gln327His)
n.3380A>C
c.201A>C (p.Gln67His)
c.3024A>C (p.Gln1008His)
c.2070A>C (n.2070A>C)
c.275A>C
c.984A>C (p.Gln328His)
c.526A>C
c.3027A>C (p.Gln1009His)
c.3009A>C (p.Gln1003His)
c.2847A>C (p.Gln949His)
c.2955A>C (p.Gln985His)
c.2937A>C (p.Gln979His)
c.2661A>C (p.Gln887His)
n.3236A>C
c.2829A>C (p.Gln943His)
c.2643A>C (p.Gln881His)
n.3239A>C
c.2934A>C (p.Gln978His)
c.3000A>C (p.Gln1000His)
c.2952A>C (p.Gln984His)
c.2817A>C (p.Gln939His)
c.2896-80A>C (n.2896-80A>C)
16g.28836043A>GCA494869152ATXN2Lc.3006A>G (p.Gln1002=)
c.981A>G (p.Gln327=)
n.3380A>G
c.201A>G (p.Gln67=)
c.3024A>G (p.Gln1008=)
c.2070A>G (n.2070A>G)
c.275A>G
c.984A>G (p.Gln328=)
c.526A>G
c.3027A>G (p.Gln1009=)
c.3009A>G (p.Gln1003=)
c.2847A>G (p.Gln949=)
c.2955A>G (p.Gln985=)
c.2937A>G (p.Gln979=)
c.2661A>G (p.Gln887=)
n.3236A>G
c.2829A>G (p.Gln943=)
c.2643A>G (p.Gln881=)
n.3239A>G
c.2934A>G (p.Gln978=)
c.3000A>G (p.Gln1000=)
c.2952A>G (p.Gln984=)
c.2817A>G (p.Gln939=)
c.2896-80A>G (n.2896-80A>G)
16g.28836043A>TCA395409173ATXN2Lc.3006A>T (p.Gln1002His)
c.981A>T (p.Gln327His)
n.3380A>T
c.201A>T (p.Gln67His)
c.3024A>T (p.Gln1008His)
c.2070A>T (n.2070A>T)
c.275A>T
c.984A>T (p.Gln328His)
c.526A>T
c.3027A>T (p.Gln1009His)
c.3009A>T (p.Gln1003His)
c.2847A>T (p.Gln949His)
c.2955A>T (p.Gln985His)
c.2937A>T (p.Gln979His)
c.2661A>T (p.Gln887His)
n.3236A>T
c.2829A>T (p.Gln943His)
c.2643A>T (p.Gln881His)
n.3239A>T
c.2934A>T (p.Gln978His)
c.3000A>T (p.Gln1000His)
c.2952A>T (p.Gln984His)
c.2817A>T (p.Gln939His)
c.2896-80A>T (n.2896-80A>T)
16g.28836044G>ACA395409175ATXN2Lc.3007G>A (p.Gly1003Ser)
c.982G>A (p.Gly328Ser)
n.3381G>A
c.202G>A (p.Gly68Ser)
c.3025G>A (p.Gly1009Ser)
c.2071G>A (n.2071G>A)
c.276G>A
c.985G>A (p.Gly329Ser)
c.527G>A
c.3028G>A (p.Gly1010Ser)
c.3010G>A (p.Gly1004Ser)
c.2848G>A (p.Gly950Ser)
c.2956G>A (p.Gly986Ser)
c.2938G>A (p.Gly980Ser)
c.2662G>A (p.Gly888Ser)
n.3237G>A
c.2830G>A (p.Gly944Ser)
c.2644G>A (p.Gly882Ser)
n.3240G>A
c.2935G>A (p.Gly979Ser)
c.3001G>A (p.Gly1001Ser)
c.2953G>A (p.Gly985Ser)
c.2818G>A (p.Gly940Ser)
c.2896-79G>A (n.2896-79G>A)
16g.28836044G>CCA395409179ATXN2Lc.3007G>C (p.Gly1003Arg)
c.982G>C (p.Gly328Arg)
n.3381G>C
c.202G>C (p.Gly68Arg)
c.3025G>C (p.Gly1009Arg)
c.2071G>C (n.2071G>C)
c.276G>C
c.985G>C (p.Gly329Arg)
c.527G>C
c.3028G>C (p.Gly1010Arg)
c.3010G>C (p.Gly1004Arg)
c.2848G>C (p.Gly950Arg)
c.2956G>C (p.Gly986Arg)
c.2938G>C (p.Gly980Arg)
c.2662G>C (p.Gly888Arg)
n.3237G>C
c.2830G>C (p.Gly944Arg)
c.2644G>C (p.Gly882Arg)
n.3240G>C
c.2935G>C (p.Gly979Arg)
c.3001G>C (p.Gly1001Arg)
c.2953G>C (p.Gly985Arg)
c.2818G>C (p.Gly940Arg)
c.2896-79G>C (n.2896-79G>C)
16g.28836044G=CA2215806860ATXN2Lc.3007G= (p.Gly1003=)
c.982G= (p.Gly328=)
n.3381G=
c.202G= (p.Gly68=)
c.3025G= (p.Gly1009=)
c.2071G= (n.2071G=)
c.276G=
c.985G= (p.Gly329=)
c.527G=
c.3028G= (p.Gly1010=)
c.3010G= (p.Gly1004=)
c.2848G= (p.Gly950=)
c.2956G= (p.Gly986=)
c.2938G= (p.Gly980=)
c.2662G= (p.Gly888=)
n.3237G=
c.2830G= (p.Gly944=)
c.2644G= (p.Gly882=)
n.3240G=
c.2935G= (p.Gly979=)
c.3001G= (p.Gly1001=)
c.2953G= (p.Gly985=)
c.2818G= (p.Gly940=)
c.2896-79G= (n.2896-79G=)
16g.28836044G>TCA7985155ATXN2Lc.3007G>T (p.Gly1003Cys)
c.982G>T (p.Gly328Cys)
n.3381G>T
c.202G>T (p.Gly68Cys)
c.3025G>T (p.Gly1009Cys)
c.2071G>T (n.2071G>T)
c.276G>T
c.985G>T (p.Gly329Cys)
c.527G>T
c.3028G>T (p.Gly1010Cys)
c.3010G>T (p.Gly1004Cys)
c.2848G>T (p.Gly950Cys)
c.2956G>T (p.Gly986Cys)
c.2938G>T (p.Gly980Cys)
c.2662G>T (p.Gly888Cys)
n.3237G>T
c.2830G>T (p.Gly944Cys)
c.2644G>T (p.Gly882Cys)
n.3240G>T
c.2935G>T (p.Gly979Cys)
c.3001G>T (p.Gly1001Cys)
c.2953G>T (p.Gly985Cys)
c.2818G>T (p.Gly940Cys)
c.2896-79G>T (n.2896-79G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836045G>ACA395409180ATXN2Lc.3008G>A (p.Gly1003Asp)
c.983G>A (p.Gly328Asp)
n.3382G>A
c.203G>A (p.Gly68Asp)
c.3026G>A (p.Gly1009Asp)
c.2072G>A (n.2072G>A)
c.277G>A
c.986G>A (p.Gly329Asp)
c.528G>A
c.3029G>A (p.Gly1010Asp)
c.3011G>A (p.Gly1004Asp)
c.2849G>A (p.Gly950Asp)
c.2957G>A (p.Gly986Asp)
c.2939G>A (p.Gly980Asp)
c.2663G>A (p.Gly888Asp)
n.3238G>A
c.2831G>A (p.Gly944Asp)
c.2645G>A (p.Gly882Asp)
n.3241G>A
c.2936G>A (p.Gly979Asp)
c.3002G>A (p.Gly1001Asp)
c.2954G>A (p.Gly985Asp)
c.2819G>A (p.Gly940Asp)
c.2896-78G>A (n.2896-78G>A)
16g.28836045G>CCA395409182ATXN2Lc.3008G>C (p.Gly1003Ala)
c.983G>C (p.Gly328Ala)
n.3382G>C
c.203G>C (p.Gly68Ala)
c.3026G>C (p.Gly1009Ala)
c.2072G>C (n.2072G>C)
c.277G>C
c.986G>C (p.Gly329Ala)
c.528G>C
c.3029G>C (p.Gly1010Ala)
c.3011G>C (p.Gly1004Ala)
c.2849G>C (p.Gly950Ala)
c.2957G>C (p.Gly986Ala)
c.2939G>C (p.Gly980Ala)
c.2663G>C (p.Gly888Ala)
n.3238G>C
c.2831G>C (p.Gly944Ala)
c.2645G>C (p.Gly882Ala)
n.3241G>C
c.2936G>C (p.Gly979Ala)
c.3002G>C (p.Gly1001Ala)
c.2954G>C (p.Gly985Ala)
c.2819G>C (p.Gly940Ala)
c.2896-78G>C (n.2896-78G>C)
16g.28836045G>TCA395409184ATXN2Lc.3008G>T (p.Gly1003Val)
c.983G>T (p.Gly328Val)
n.3382G>T
c.203G>T (p.Gly68Val)
c.3026G>T (p.Gly1009Val)
c.2072G>T (n.2072G>T)
c.277G>T
c.986G>T (p.Gly329Val)
c.528G>T
c.3029G>T (p.Gly1010Val)
c.3011G>T (p.Gly1004Val)
c.2849G>T (p.Gly950Val)
c.2957G>T (p.Gly986Val)
c.2939G>T (p.Gly980Val)
c.2663G>T (p.Gly888Val)
n.3238G>T
c.2831G>T (p.Gly944Val)
c.2645G>T (p.Gly882Val)
n.3241G>T
c.2936G>T (p.Gly979Val)
c.3002G>T (p.Gly1001Val)
c.2954G>T (p.Gly985Val)
c.2819G>T (p.Gly940Val)
c.2896-78G>T (n.2896-78G>T)
16g.28836046C>ACA494869167ATXN2Lc.3009C>A (p.Gly1003=)
c.984C>A (p.Gly328=)
n.3383C>A
c.204C>A (p.Gly68=)
c.3027C>A (p.Gly1009=)
c.2073C>A (n.2073C>A)
c.278C>A
c.987C>A (p.Gly329=)
c.529C>A
c.3030C>A (p.Gly1010=)
c.3012C>A (p.Gly1004=)
c.2850C>A (p.Gly950=)
c.2958C>A (p.Gly986=)
c.2940C>A (p.Gly980=)
c.2664C>A (p.Gly888=)
n.3239C>A
c.2832C>A (p.Gly944=)
c.2646C>A (p.Gly882=)
n.3242C>A
c.2937C>A (p.Gly979=)
c.3003C>A (p.Gly1001=)
c.2955C>A (p.Gly985=)
c.2820C>A (p.Gly940=)
c.2896-77C>A (n.2896-77C>A)
 gnomAD v4
16g.28836046C=CA2215806863ATXN2Lc.3009C= (p.Gly1003=)
c.984C= (p.Gly328=)
n.3383C=
c.204C= (p.Gly68=)
c.3027C= (p.Gly1009=)
c.2073C= (n.2073C=)
c.278C=
c.987C= (p.Gly329=)
c.529C=
c.3030C= (p.Gly1010=)
c.3012C= (p.Gly1004=)
c.2850C= (p.Gly950=)
c.2958C= (p.Gly986=)
c.2940C= (p.Gly980=)
c.2664C= (p.Gly888=)
n.3239C=
c.2832C= (p.Gly944=)
c.2646C= (p.Gly882=)
n.3242C=
c.2937C= (p.Gly979=)
c.3003C= (p.Gly1001=)
c.2955C= (p.Gly985=)
c.2820C= (p.Gly940=)
c.2896-77C= (n.2896-77C=)
16g.28836046C>GCA494869169ATXN2Lc.3009C>G (p.Gly1003=)
c.984C>G (p.Gly328=)
n.3383C>G
c.204C>G (p.Gly68=)
c.3027C>G (p.Gly1009=)
c.2073C>G (n.2073C>G)
c.278C>G
c.987C>G (p.Gly329=)
c.529C>G
c.3030C>G (p.Gly1010=)
c.3012C>G (p.Gly1004=)
c.2850C>G (p.Gly950=)
c.2958C>G (p.Gly986=)
c.2940C>G (p.Gly980=)
c.2664C>G (p.Gly888=)
n.3239C>G
c.2832C>G (p.Gly944=)
c.2646C>G (p.Gly882=)
n.3242C>G
c.2937C>G (p.Gly979=)
c.3003C>G (p.Gly1001=)
c.2955C>G (p.Gly985=)
c.2820C>G (p.Gly940=)
c.2896-77C>G (n.2896-77C>G)
 gnomAD v4
16g.28836046C>TCA7985156ATXN2Lc.3009C>T (p.Gly1003=)
c.984C>T (p.Gly328=)
n.3383C>T
c.204C>T (p.Gly68=)
c.3027C>T (p.Gly1009=)
c.2073C>T (n.2073C>T)
c.278C>T
c.987C>T (p.Gly329=)
c.529C>T
c.3030C>T (p.Gly1010=)
c.3012C>T (p.Gly1004=)
c.2850C>T (p.Gly950=)
c.2958C>T (p.Gly986=)
c.2940C>T (p.Gly980=)
c.2664C>T (p.Gly888=)
n.3239C>T
c.2832C>T (p.Gly944=)
c.2646C>T (p.Gly882=)
n.3242C>T
c.2937C>T (p.Gly979=)
c.3003C>T (p.Gly1001=)
c.2955C>T (p.Gly985=)
c.2820C>T (p.Gly940=)
c.2896-77C>T (n.2896-77C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836047G>ACA7985157ATXN2Lc.3010G>A (p.Ala1004Thr)
c.985G>A (p.Ala329Thr)
n.3384G>A
c.205G>A (p.Ala69Thr)
c.3028G>A (p.Ala1010Thr)
c.2074G>A (n.2074G>A)
c.279G>A
c.988G>A (p.Ala330Thr)
c.530G>A
c.3031G>A (p.Ala1011Thr)
c.3013G>A (p.Ala1005Thr)
c.2851G>A (p.Ala951Thr)
c.2959G>A (p.Ala987Thr)
c.2941G>A (p.Ala981Thr)
c.2665G>A (p.Ala889Thr)
n.3240G>A
c.2833G>A (p.Ala945Thr)
c.2647G>A (p.Ala883Thr)
n.3243G>A
c.2938G>A (p.Ala980Thr)
c.3004G>A (p.Ala1002Thr)
c.2956G>A (p.Ala986Thr)
c.2821G>A (p.Ala941Thr)
c.2896-76G>A (n.2896-76G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836047G>CCA395409188ATXN2Lc.3010G>C (p.Ala1004Pro)
c.985G>C (p.Ala329Pro)
n.3384G>C
c.205G>C (p.Ala69Pro)
c.3028G>C (p.Ala1010Pro)
c.2074G>C (n.2074G>C)
c.279G>C
c.988G>C (p.Ala330Pro)
c.530G>C
c.3031G>C (p.Ala1011Pro)
c.3013G>C (p.Ala1005Pro)
c.2851G>C (p.Ala951Pro)
c.2959G>C (p.Ala987Pro)
c.2941G>C (p.Ala981Pro)
c.2665G>C (p.Ala889Pro)
n.3240G>C
c.2833G>C (p.Ala945Pro)
c.2647G>C (p.Ala883Pro)
n.3243G>C
c.2938G>C (p.Ala980Pro)
c.3004G>C (p.Ala1002Pro)
c.2956G>C (p.Ala986Pro)
c.2821G>C (p.Ala941Pro)
c.2896-76G>C (n.2896-76G>C)
 dbSNP
16g.28836047G=CA2215806866ATXN2Lc.3010G= (p.Ala1004=)
c.985G= (p.Ala329=)
n.3384G=
c.205G= (p.Ala69=)
c.3028G= (p.Ala1010=)
c.2074G= (n.2074G=)
c.279G=
c.988G= (p.Ala330=)
c.530G=
c.3031G= (p.Ala1011=)
c.3013G= (p.Ala1005=)
c.2851G= (p.Ala951=)
c.2959G= (p.Ala987=)
c.2941G= (p.Ala981=)
c.2665G= (p.Ala889=)
n.3240G=
c.2833G= (p.Ala945=)
c.2647G= (p.Ala883=)
n.3243G=
c.2938G= (p.Ala980=)
c.3004G= (p.Ala1002=)
c.2956G= (p.Ala986=)
c.2821G= (p.Ala941=)
c.2896-76G= (n.2896-76G=)
16g.28836047G>TCA395409189ATXN2Lc.3010G>T (p.Ala1004Ser)
c.985G>T (p.Ala329Ser)
n.3384G>T
c.205G>T (p.Ala69Ser)
c.3028G>T (p.Ala1010Ser)
c.2074G>T (n.2074G>T)
c.279G>T
c.988G>T (p.Ala330Ser)
c.530G>T
c.3031G>T (p.Ala1011Ser)
c.3013G>T (p.Ala1005Ser)
c.2851G>T (p.Ala951Ser)
c.2959G>T (p.Ala987Ser)
c.2941G>T (p.Ala981Ser)
c.2665G>T (p.Ala889Ser)
n.3240G>T
c.2833G>T (p.Ala945Ser)
c.2647G>T (p.Ala883Ser)
n.3243G>T
c.2938G>T (p.Ala980Ser)
c.3004G>T (p.Ala1002Ser)
c.2956G>T (p.Ala986Ser)
c.2821G>T (p.Ala941Ser)
c.2896-76G>T (n.2896-76G>T)
16g.28836048C>ACA395409191ATXN2Lc.3011C>A (p.Ala1004Glu)
c.986C>A (p.Ala329Glu)
n.3385C>A
c.206C>A (p.Ala69Glu)
c.3029C>A (p.Ala1010Glu)
c.2075C>A (n.2075C>A)
c.280C>A
c.989C>A (p.Ala330Glu)
c.531C>A
c.3032C>A (p.Ala1011Glu)
c.3014C>A (p.Ala1005Glu)
c.2852C>A (p.Ala951Glu)
c.2960C>A (p.Ala987Glu)
c.2942C>A (p.Ala981Glu)
c.2666C>A (p.Ala889Glu)
n.3241C>A
c.2834C>A (p.Ala945Glu)
c.2648C>A (p.Ala883Glu)
n.3244C>A
c.2939C>A (p.Ala980Glu)
c.3005C>A (p.Ala1002Glu)
c.2957C>A (p.Ala986Glu)
c.2822C>A (p.Ala941Glu)
c.2896-75C>A (n.2896-75C>A)
16g.28836048C=CA2215806869ATXN2Lc.3011C= (p.Ala1004=)
c.986C= (p.Ala329=)
n.3385C=
c.206C= (p.Ala69=)
c.3029C= (p.Ala1010=)
c.2075C= (n.2075C=)
c.280C=
c.989C= (p.Ala330=)
c.531C=
c.3032C= (p.Ala1011=)
c.3014C= (p.Ala1005=)
c.2852C= (p.Ala951=)
c.2960C= (p.Ala987=)
c.2942C= (p.Ala981=)
c.2666C= (p.Ala889=)
n.3241C=
c.2834C= (p.Ala945=)
c.2648C= (p.Ala883=)
n.3244C=
c.2939C= (p.Ala980=)
c.3005C= (p.Ala1002=)
c.2957C= (p.Ala986=)
c.2822C= (p.Ala941=)
c.2896-75C= (n.2896-75C=)
16g.28836048C>GCA395409193ATXN2Lc.3011C>G (p.Ala1004Gly)
c.986C>G (p.Ala329Gly)
n.3385C>G
c.206C>G (p.Ala69Gly)
c.3029C>G (p.Ala1010Gly)
c.2075C>G (n.2075C>G)
c.280C>G
c.989C>G (p.Ala330Gly)
c.531C>G
c.3032C>G (p.Ala1011Gly)
c.3014C>G (p.Ala1005Gly)
c.2852C>G (p.Ala951Gly)
c.2960C>G (p.Ala987Gly)
c.2942C>G (p.Ala981Gly)
c.2666C>G (p.Ala889Gly)
n.3241C>G
c.2834C>G (p.Ala945Gly)
c.2648C>G (p.Ala883Gly)
n.3244C>G
c.2939C>G (p.Ala980Gly)
c.3005C>G (p.Ala1002Gly)
c.2957C>G (p.Ala986Gly)
c.2822C>G (p.Ala941Gly)
c.2896-75C>G (n.2896-75C>G)
16g.28836048C>TCA7985158ATXN2Lc.3011C>T (p.Ala1004Val)
c.986C>T (p.Ala329Val)
n.3385C>T
c.206C>T (p.Ala69Val)
c.3029C>T (p.Ala1010Val)
c.2075C>T (n.2075C>T)
c.280C>T
c.989C>T (p.Ala330Val)
c.531C>T
c.3032C>T (p.Ala1011Val)
c.3014C>T (p.Ala1005Val)
c.2852C>T (p.Ala951Val)
c.2960C>T (p.Ala987Val)
c.2942C>T (p.Ala981Val)
c.2666C>T (p.Ala889Val)
n.3241C>T
c.2834C>T (p.Ala945Val)
c.2648C>T (p.Ala883Val)
n.3244C>T
c.2939C>T (p.Ala980Val)
c.3005C>T (p.Ala1002Val)
c.2957C>T (p.Ala986Val)
c.2822C>T (p.Ala941Val)
c.2896-75C>T (n.2896-75C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836049G>ACA7985159ATXN2Lc.3012G>A (p.Ala1004=)
c.987G>A (p.Ala329=)
n.3386G>A
c.207G>A (p.Ala69=)
c.3030G>A (p.Ala1010=)
c.2076G>A (n.2076G>A)
c.281G>A
c.990G>A (p.Ala330=)
c.532G>A
c.3033G>A (p.Ala1011=)
c.3015G>A (p.Ala1005=)
c.2853G>A (p.Ala951=)
c.2961G>A (p.Ala987=)
c.2943G>A (p.Ala981=)
c.2667G>A (p.Ala889=)
n.3242G>A
c.2835G>A (p.Ala945=)
c.2649G>A (p.Ala883=)
n.3245G>A
c.2940G>A (p.Ala980=)
c.3006G>A (p.Ala1002=)
c.2958G>A (p.Ala986=)
c.2823G>A (p.Ala941=)
c.2896-74G>A (n.2896-74G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836049G>CCA494869190ATXN2Lc.3012G>C (p.Ala1004=)
c.987G>C (p.Ala329=)
n.3386G>C
c.207G>C (p.Ala69=)
c.3030G>C (p.Ala1010=)
c.2076G>C (n.2076G>C)
c.281G>C
c.990G>C (p.Ala330=)
c.532G>C
c.3033G>C (p.Ala1011=)
c.3015G>C (p.Ala1005=)
c.2853G>C (p.Ala951=)
c.2961G>C (p.Ala987=)
c.2943G>C (p.Ala981=)
c.2667G>C (p.Ala889=)
n.3242G>C
c.2835G>C (p.Ala945=)
c.2649G>C (p.Ala883=)
n.3245G>C
c.2940G>C (p.Ala980=)
c.3006G>C (p.Ala1002=)
c.2958G>C (p.Ala986=)
c.2823G>C (p.Ala941=)
c.2896-74G>C (n.2896-74G>C)
16g.28836049G=CA2215806872ATXN2Lc.3012G= (p.Ala1004=)
c.987G= (p.Ala329=)
n.3386G=
c.207G= (p.Ala69=)
c.3030G= (p.Ala1010=)
c.2076G= (n.2076G=)
c.281G=
c.990G= (p.Ala330=)
c.532G=
c.3033G= (p.Ala1011=)
c.3015G= (p.Ala1005=)
c.2853G= (p.Ala951=)
c.2961G= (p.Ala987=)
c.2943G= (p.Ala981=)
c.2667G= (p.Ala889=)
n.3242G=
c.2835G= (p.Ala945=)
c.2649G= (p.Ala883=)
n.3245G=
c.2940G= (p.Ala980=)
c.3006G= (p.Ala1002=)
c.2958G= (p.Ala986=)
c.2823G= (p.Ala941=)
c.2896-74G= (n.2896-74G=)
16g.28836049G>TCA494869193ATXN2Lc.3012G>T (p.Ala1004=)
c.987G>T (p.Ala329=)
n.3386G>T
c.207G>T (p.Ala69=)
c.3030G>T (p.Ala1010=)
c.2076G>T (n.2076G>T)
c.281G>T
c.990G>T (p.Ala330=)
c.532G>T
c.3033G>T (p.Ala1011=)
c.3015G>T (p.Ala1005=)
c.2853G>T (p.Ala951=)
c.2961G>T (p.Ala987=)
c.2943G>T (p.Ala981=)
c.2667G>T (p.Ala889=)
n.3242G>T
c.2835G>T (p.Ala945=)
c.2649G>T (p.Ala883=)
n.3245G>T
c.2940G>T (p.Ala980=)
c.3006G>T (p.Ala1002=)
c.2958G>T (p.Ala986=)
c.2823G>T (p.Ala941=)
c.2896-74G>T (n.2896-74G>T)
 dbSNP gnomAD v2
16g.28836050G>ACA395409201ATXN2Lc.3013G>A (p.Val1005Met)
c.988G>A (p.Val330Met)
n.3387G>A
c.208G>A (p.Val70Met)
c.3031G>A (p.Val1011Met)
c.2077G>A (n.2077G>A)
c.282G>A
c.991G>A (p.Val331Met)
c.533G>A
c.3034G>A (p.Val1012Met)
c.3016G>A (p.Val1006Met)
c.2854G>A (p.Val952Met)
c.2962G>A (p.Val988Met)
c.2944G>A (p.Val982Met)
c.2668G>A (p.Val890Met)
n.3243G>A
c.2836G>A (p.Val946Met)
c.2650G>A (p.Val884Met)
n.3246G>A
c.2941G>A (p.Val981Met)
c.3007G>A (p.Val1003Met)
c.2959G>A (p.Val987Met)
c.2824G>A (p.Val942Met)
c.2896-73G>A (n.2896-73G>A)
16g.28836050G>CCA395409198ATXN2Lc.3013G>C (p.Val1005Leu)
c.988G>C (p.Val330Leu)
n.3387G>C
c.208G>C (p.Val70Leu)
c.3031G>C (p.Val1011Leu)
c.2077G>C (n.2077G>C)
c.282G>C
c.991G>C (p.Val331Leu)
c.533G>C
c.3034G>C (p.Val1012Leu)
c.3016G>C (p.Val1006Leu)
c.2854G>C (p.Val952Leu)
c.2962G>C (p.Val988Leu)
c.2944G>C (p.Val982Leu)
c.2668G>C (p.Val890Leu)
n.3243G>C
c.2836G>C (p.Val946Leu)
c.2650G>C (p.Val884Leu)
n.3246G>C
c.2941G>C (p.Val981Leu)
c.3007G>C (p.Val1003Leu)
c.2959G>C (p.Val987Leu)
c.2824G>C (p.Val942Leu)
c.2896-73G>C (n.2896-73G>C)
16g.28836050G>TCA395409197ATXN2Lc.3013G>T (p.Val1005Leu)
c.988G>T (p.Val330Leu)
n.3387G>T
c.208G>T (p.Val70Leu)
c.3031G>T (p.Val1011Leu)
c.2077G>T (n.2077G>T)
c.282G>T
c.991G>T (p.Val331Leu)
c.533G>T
c.3034G>T (p.Val1012Leu)
c.3016G>T (p.Val1006Leu)
c.2854G>T (p.Val952Leu)
c.2962G>T (p.Val988Leu)
c.2944G>T (p.Val982Leu)
c.2668G>T (p.Val890Leu)
n.3243G>T
c.2836G>T (p.Val946Leu)
c.2650G>T (p.Val884Leu)
n.3246G>T
c.2941G>T (p.Val981Leu)
c.3007G>T (p.Val1003Leu)
c.2959G>T (p.Val987Leu)
c.2824G>T (p.Val942Leu)
c.2896-73G>T (n.2896-73G>T)
16g.28836051T>ACA395409203ATXN2Lc.3014T>A (p.Val1005Glu)
c.989T>A (p.Val330Glu)
n.3388T>A
c.209T>A (p.Val70Glu)
c.3032T>A (p.Val1011Glu)
c.2078T>A (n.2078T>A)
c.283T>A
c.992T>A (p.Val331Glu)
c.534T>A
c.3035T>A (p.Val1012Glu)
c.3017T>A (p.Val1006Glu)
c.2855T>A (p.Val952Glu)
c.2963T>A (p.Val988Glu)
c.2945T>A (p.Val982Glu)
c.2669T>A (p.Val890Glu)
n.3244T>A
c.2837T>A (p.Val946Glu)
c.2651T>A (p.Val884Glu)
n.3247T>A
c.2942T>A (p.Val981Glu)
c.3008T>A (p.Val1003Glu)
c.2960T>A (p.Val987Glu)
c.2825T>A (p.Val942Glu)
c.2896-72T>A (n.2896-72T>A)
16g.28836051T>CCA395409207ATXN2Lc.3014T>C (p.Val1005Ala)
c.989T>C (p.Val330Ala)
n.3388T>C
c.209T>C (p.Val70Ala)
c.3032T>C (p.Val1011Ala)
c.2078T>C (n.2078T>C)
c.283T>C
c.992T>C (p.Val331Ala)
c.534T>C
c.3035T>C (p.Val1012Ala)
c.3017T>C (p.Val1006Ala)
c.2855T>C (p.Val952Ala)
c.2963T>C (p.Val988Ala)
c.2945T>C (p.Val982Ala)
c.2669T>C (p.Val890Ala)
n.3244T>C
c.2837T>C (p.Val946Ala)
c.2651T>C (p.Val884Ala)
n.3247T>C
c.2942T>C (p.Val981Ala)
c.3008T>C (p.Val1003Ala)
c.2960T>C (p.Val987Ala)
c.2825T>C (p.Val942Ala)
c.2896-72T>C (n.2896-72T>C)
16g.28836051T>GCA395409205ATXN2Lc.3014T>G (p.Val1005Gly)
c.989T>G (p.Val330Gly)
n.3388T>G
c.209T>G (p.Val70Gly)
c.3032T>G (p.Val1011Gly)
c.2078T>G (n.2078T>G)
c.283T>G
c.992T>G (p.Val331Gly)
c.534T>G
c.3035T>G (p.Val1012Gly)
c.3017T>G (p.Val1006Gly)
c.2855T>G (p.Val952Gly)
c.2963T>G (p.Val988Gly)
c.2945T>G (p.Val982Gly)
c.2669T>G (p.Val890Gly)
n.3244T>G
c.2837T>G (p.Val946Gly)
c.2651T>G (p.Val884Gly)
n.3247T>G
c.2942T>G (p.Val981Gly)
c.3008T>G (p.Val1003Gly)
c.2960T>G (p.Val987Gly)
c.2825T>G (p.Val942Gly)
c.2896-72T>G (n.2896-72T>G)
16g.28836052G>ACA494869210ATXN2Lc.3015G>A (p.Val1005=)
c.990G>A (p.Val330=)
n.3389G>A
c.210G>A (p.Val70=)
c.3033G>A (p.Val1011=)
c.2079G>A (n.2079G>A)
c.284G>A
c.993G>A (p.Val331=)
c.535G>A
c.3036G>A (p.Val1012=)
c.3018G>A (p.Val1006=)
c.2856G>A (p.Val952=)
c.2964G>A (p.Val988=)
c.2946G>A (p.Val982=)
c.2670G>A (p.Val890=)
n.3245G>A
c.2838G>A (p.Val946=)
c.2652G>A (p.Val884=)
n.3248G>A
c.2943G>A (p.Val981=)
c.3009G>A (p.Val1003=)
c.2961G>A (p.Val987=)
c.2826G>A (p.Val942=)
c.2896-71G>A (n.2896-71G>A)
16g.28836052G>CCA494869214ATXN2Lc.3015G>C (p.Val1005=)
c.990G>C (p.Val330=)
n.3389G>C
c.210G>C (p.Val70=)
c.3033G>C (p.Val1011=)
c.2079G>C (n.2079G>C)
c.284G>C
c.993G>C (p.Val331=)
c.535G>C
c.3036G>C (p.Val1012=)
c.3018G>C (p.Val1006=)
c.2856G>C (p.Val952=)
c.2964G>C (p.Val988=)
c.2946G>C (p.Val982=)
c.2670G>C (p.Val890=)
n.3245G>C
c.2838G>C (p.Val946=)
c.2652G>C (p.Val884=)
n.3248G>C
c.2943G>C (p.Val981=)
c.3009G>C (p.Val1003=)
c.2961G>C (p.Val987=)
c.2826G>C (p.Val942=)
c.2896-71G>C (n.2896-71G>C)
16g.28836052G>TCA494869224ATXN2Lc.3015G>T (p.Val1005=)
c.990G>T (p.Val330=)
n.3389G>T
c.210G>T (p.Val70=)
c.3033G>T (p.Val1011=)
c.2079G>T (n.2079G>T)
c.284G>T
c.993G>T (p.Val331=)
c.535G>T
c.3036G>T (p.Val1012=)
c.3018G>T (p.Val1006=)
c.2856G>T (p.Val952=)
c.2964G>T (p.Val988=)
c.2946G>T (p.Val982=)
c.2670G>T (p.Val890=)
n.3245G>T
c.2838G>T (p.Val946=)
c.2652G>T (p.Val884=)
n.3248G>T
c.2943G>T (p.Val981=)
c.3009G>T (p.Val1003=)
c.2961G>T (p.Val987=)
c.2826G>T (p.Val942=)
c.2896-71G>T (n.2896-71G>T)
16g.28836053C>ACA395409208ATXN2Lc.3016C>A (p.Pro1006Thr)
c.991C>A (p.Pro331Thr)
n.3390C>A
c.211C>A (p.Pro71Thr)
c.3034C>A (p.Pro1012Thr)
c.2080C>A (n.2080C>A)
c.285C>A
c.994C>A (p.Pro332Thr)
c.536C>A
c.3037C>A (p.Pro1013Thr)
c.3019C>A (p.Pro1007Thr)
c.2857C>A (p.Pro953Thr)
c.2965C>A (p.Pro989Thr)
c.2947C>A (p.Pro983Thr)
c.2671C>A (p.Pro891Thr)
n.3246C>A
c.2839C>A (p.Pro947Thr)
c.2653C>A (p.Pro885Thr)
n.3249C>A
c.2944C>A (p.Pro982Thr)
c.3010C>A (p.Pro1004Thr)
c.2962C>A (p.Pro988Thr)
c.2827C>A (p.Pro943Thr)
c.2896-70C>A (n.2896-70C>A)
16g.28836053C>GCA395409209ATXN2Lc.3016C>G (p.Pro1006Ala)
c.991C>G (p.Pro331Ala)
n.3390C>G
c.211C>G (p.Pro71Ala)
c.3034C>G (p.Pro1012Ala)
c.2080C>G (n.2080C>G)
c.285C>G
c.994C>G (p.Pro332Ala)
c.536C>G
c.3037C>G (p.Pro1013Ala)
c.3019C>G (p.Pro1007Ala)
c.2857C>G (p.Pro953Ala)
c.2965C>G (p.Pro989Ala)
c.2947C>G (p.Pro983Ala)
c.2671C>G (p.Pro891Ala)
n.3246C>G
c.2839C>G (p.Pro947Ala)
c.2653C>G (p.Pro885Ala)
n.3249C>G
c.2944C>G (p.Pro982Ala)
c.3010C>G (p.Pro1004Ala)
c.2962C>G (p.Pro988Ala)
c.2827C>G (p.Pro943Ala)
c.2896-70C>G (n.2896-70C>G)
16g.28836053C>TCA395409210ATXN2Lc.3016C>T (p.Pro1006Ser)
c.991C>T (p.Pro331Ser)
n.3390C>T
c.211C>T (p.Pro71Ser)
c.3034C>T (p.Pro1012Ser)
c.2080C>T (n.2080C>T)
c.285C>T
c.994C>T (p.Pro332Ser)
c.536C>T
c.3037C>T (p.Pro1013Ser)
c.3019C>T (p.Pro1007Ser)
c.2857C>T (p.Pro953Ser)
c.2965C>T (p.Pro989Ser)
c.2947C>T (p.Pro983Ser)
c.2671C>T (p.Pro891Ser)
n.3246C>T
c.2839C>T (p.Pro947Ser)
c.2653C>T (p.Pro885Ser)
n.3249C>T
c.2944C>T (p.Pro982Ser)
c.3010C>T (p.Pro1004Ser)
c.2962C>T (p.Pro988Ser)
c.2827C>T (p.Pro943Ser)
c.2896-70C>T (n.2896-70C>T)
16g.28836054C>ACA395409211ATXN2Lc.3017C>A (p.Pro1006His)
c.992C>A (p.Pro331His)
n.3391C>A
c.212C>A (p.Pro71His)
c.3035C>A (p.Pro1012His)
c.2081C>A (n.2081C>A)
c.286C>A
c.995C>A (p.Pro332His)
c.537C>A
c.3038C>A (p.Pro1013His)
c.3020C>A (p.Pro1007His)
c.2858C>A (p.Pro953His)
c.2966C>A (p.Pro989His)
c.2948C>A (p.Pro983His)
c.2672C>A (p.Pro891His)
n.3247C>A
c.2840C>A (p.Pro947His)
c.2654C>A (p.Pro885His)
n.3250C>A
c.2945C>A (p.Pro982His)
c.3011C>A (p.Pro1004His)
c.2963C>A (p.Pro988His)
c.2828C>A (p.Pro943His)
c.2896-69C>A (n.2896-69C>A)
16g.28836054C>GCA395409212ATXN2Lc.3017C>G (p.Pro1006Arg)
c.992C>G (p.Pro331Arg)
n.3391C>G
c.212C>G (p.Pro71Arg)
c.3035C>G (p.Pro1012Arg)
c.2081C>G (n.2081C>G)
c.286C>G
c.995C>G (p.Pro332Arg)
c.537C>G
c.3038C>G (p.Pro1013Arg)
c.3020C>G (p.Pro1007Arg)
c.2858C>G (p.Pro953Arg)
c.2966C>G (p.Pro989Arg)
c.2948C>G (p.Pro983Arg)
c.2672C>G (p.Pro891Arg)
n.3247C>G
c.2840C>G (p.Pro947Arg)
c.2654C>G (p.Pro885Arg)
n.3250C>G
c.2945C>G (p.Pro982Arg)
c.3011C>G (p.Pro1004Arg)
c.2963C>G (p.Pro988Arg)
c.2828C>G (p.Pro943Arg)
c.2896-69C>G (n.2896-69C>G)
16g.28836054C>TCA395409213ATXN2Lc.3017C>T (p.Pro1006Leu)
c.992C>T (p.Pro331Leu)
n.3391C>T
c.212C>T (p.Pro71Leu)
c.3035C>T (p.Pro1012Leu)
c.2081C>T (n.2081C>T)
c.286C>T
c.995C>T (p.Pro332Leu)
c.537C>T
c.3038C>T (p.Pro1013Leu)
c.3020C>T (p.Pro1007Leu)
c.2858C>T (p.Pro953Leu)
c.2966C>T (p.Pro989Leu)
c.2948C>T (p.Pro983Leu)
c.2672C>T (p.Pro891Leu)
n.3247C>T
c.2840C>T (p.Pro947Leu)
c.2654C>T (p.Pro885Leu)
n.3250C>T
c.2945C>T (p.Pro982Leu)
c.3011C>T (p.Pro1004Leu)
c.2963C>T (p.Pro988Leu)
c.2828C>T (p.Pro943Leu)
c.2896-69C>T (n.2896-69C>T)
16g.28836055C>ACA494869237ATXN2Lc.3018C>A (p.Pro1006=)
c.993C>A (p.Pro331=)
n.3392C>A
c.213C>A (p.Pro71=)
c.3036C>A (p.Pro1012=)
c.2082C>A (n.2082C>A)
c.287C>A
c.996C>A (p.Pro332=)
c.538C>A
c.3039C>A (p.Pro1013=)
c.3021C>A (p.Pro1007=)
c.2859C>A (p.Pro953=)
c.2967C>A (p.Pro989=)
c.2949C>A (p.Pro983=)
c.2673C>A (p.Pro891=)
n.3248C>A
c.2841C>A (p.Pro947=)
c.2655C>A (p.Pro885=)
n.3251C>A
c.2946C>A (p.Pro982=)
c.3012C>A (p.Pro1004=)
c.2964C>A (p.Pro988=)
c.2829C>A (p.Pro943=)
c.2896-68C>A (n.2896-68C>A)
16g.28836055C=CA2215806875ATXN2Lc.3018C= (p.Pro1006=)
c.993C= (p.Pro331=)
n.3392C=
c.213C= (p.Pro71=)
c.3036C= (p.Pro1012=)
c.2082C= (n.2082C=)
c.287C=
c.996C= (p.Pro332=)
c.538C=
c.3039C= (p.Pro1013=)
c.3021C= (p.Pro1007=)
c.2859C= (p.Pro953=)
c.2967C= (p.Pro989=)
c.2949C= (p.Pro983=)
c.2673C= (p.Pro891=)
n.3248C=
c.2841C= (p.Pro947=)
c.2655C= (p.Pro885=)
n.3251C=
c.2946C= (p.Pro982=)
c.3012C= (p.Pro1004=)
c.2964C= (p.Pro988=)
c.2829C= (p.Pro943=)
c.2896-68C= (n.2896-68C=)
16g.28836055C>GCA494869235ATXN2Lc.3018C>G (p.Pro1006=)
c.993C>G (p.Pro331=)
n.3392C>G
c.213C>G (p.Pro71=)
c.3036C>G (p.Pro1012=)
c.2082C>G (n.2082C>G)
c.287C>G
c.996C>G (p.Pro332=)
c.538C>G
c.3039C>G (p.Pro1013=)
c.3021C>G (p.Pro1007=)
c.2859C>G (p.Pro953=)
c.2967C>G (p.Pro989=)
c.2949C>G (p.Pro983=)
c.2673C>G (p.Pro891=)
n.3248C>G
c.2841C>G (p.Pro947=)
c.2655C>G (p.Pro885=)
n.3251C>G
c.2946C>G (p.Pro982=)
c.3012C>G (p.Pro1004=)
c.2964C>G (p.Pro988=)
c.2829C>G (p.Pro943=)
c.2896-68C>G (n.2896-68C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.28836055C>TCA494869236ATXN2Lc.3018C>T (p.Pro1006=)
c.993C>T (p.Pro331=)
n.3392C>T
c.213C>T (p.Pro71=)
c.3036C>T (p.Pro1012=)
c.2082C>T (n.2082C>T)
c.287C>T
c.996C>T (p.Pro332=)
c.538C>T
c.3039C>T (p.Pro1013=)
c.3021C>T (p.Pro1007=)
c.2859C>T (p.Pro953=)
c.2967C>T (p.Pro989=)
c.2949C>T (p.Pro983=)
c.2673C>T (p.Pro891=)
n.3248C>T
c.2841C>T (p.Pro947=)
c.2655C>T (p.Pro885=)
n.3251C>T
c.2946C>T (p.Pro982=)
c.3012C>T (p.Pro1004=)
c.2964C>T (p.Pro988=)
c.2829C>T (p.Pro943=)
c.2896-68C>T (n.2896-68C>T)
16g.28836056C>ACA395409214ATXN2Lc.3019C>A (p.Gln1007Lys)
c.994C>A (p.Gln332Lys)
n.3393C>A
c.214C>A (p.Gln72Lys)
c.3037C>A (p.Gln1013Lys)
c.2083C>A (n.2083C>A)
c.288C>A
c.997C>A (p.Gln333Lys)
c.539C>A
c.3040C>A (p.Gln1014Lys)
c.3022C>A (p.Gln1008Lys)
c.2860C>A (p.Gln954Lys)
c.2968C>A (p.Gln990Lys)
c.2950C>A (p.Gln984Lys)
c.2674C>A (p.Gln892Lys)
n.3249C>A
c.2842C>A (p.Gln948Lys)
c.2656C>A (p.Gln886Lys)
n.3252C>A
c.2947C>A (p.Gln983Lys)
c.3013C>A (p.Gln1005Lys)
c.2965C>A (p.Gln989Lys)
c.2830C>A (p.Gln944Lys)
c.2896-67C>A (n.2896-67C>A)
16g.28836056C>GCA395409215ATXN2Lc.3019C>G (p.Gln1007Glu)
c.994C>G (p.Gln332Glu)
n.3393C>G
c.214C>G (p.Gln72Glu)
c.3037C>G (p.Gln1013Glu)
c.2083C>G (n.2083C>G)
c.288C>G
c.997C>G (p.Gln333Glu)
c.539C>G
c.3040C>G (p.Gln1014Glu)
c.3022C>G (p.Gln1008Glu)
c.2860C>G (p.Gln954Glu)
c.2968C>G (p.Gln990Glu)
c.2950C>G (p.Gln984Glu)
c.2674C>G (p.Gln892Glu)
n.3249C>G
c.2842C>G (p.Gln948Glu)
c.2656C>G (p.Gln886Glu)
n.3252C>G
c.2947C>G (p.Gln983Glu)
c.3013C>G (p.Gln1005Glu)
c.2965C>G (p.Gln989Glu)
c.2830C>G (p.Gln944Glu)
c.2896-67C>G (n.2896-67C>G)
16g.28836056C>TCA395409216ATXN2Lc.3019C>T (p.Gln1007Ter)
c.994C>T (p.Gln332Ter)
n.3393C>T
c.214C>T (p.Gln72Ter)
c.3037C>T (p.Gln1013Ter)
c.2083C>T (n.2083C>T)
c.288C>T
c.997C>T (p.Gln333Ter)
c.539C>T
c.3040C>T (p.Gln1014Ter)
c.3022C>T (p.Gln1008Ter)
c.2860C>T (p.Gln954Ter)
c.2968C>T (p.Gln990Ter)
c.2950C>T (p.Gln984Ter)
c.2674C>T (p.Gln892Ter)
n.3249C>T
c.2842C>T (p.Gln948Ter)
c.2656C>T (p.Gln886Ter)
n.3252C>T
c.2947C>T (p.Gln983Ter)
c.3013C>T (p.Gln1005Ter)
c.2965C>T (p.Gln989Ter)
c.2830C>T (p.Gln944Ter)
c.2896-67C>T (n.2896-67C>T)
16g.28836057A>CCA395409217ATXN2Lc.3020A>C (p.Gln1007Pro)
c.995A>C (p.Gln332Pro)
n.3394A>C
c.215A>C (p.Gln72Pro)
c.3038A>C (p.Gln1013Pro)
c.2084A>C (n.2084A>C)
c.289A>C
c.998A>C (p.Gln333Pro)
c.540A>C
c.3041A>C (p.Gln1014Pro)
c.3023A>C (p.Gln1008Pro)
c.2861A>C (p.Gln954Pro)
c.2969A>C (p.Gln990Pro)
c.2951A>C (p.Gln984Pro)
c.2675A>C (p.Gln892Pro)
n.3250A>C
c.2843A>C (p.Gln948Pro)
c.2657A>C (p.Gln886Pro)
n.3253A>C
c.2948A>C (p.Gln983Pro)
c.3014A>C (p.Gln1005Pro)
c.2966A>C (p.Gln989Pro)
c.2831A>C (p.Gln944Pro)
c.2896-66A>C (n.2896-66A>C)
 COSMIC COSMIC COSMIC COSMIC
16g.28836057A>GCA395409218ATXN2Lc.3020A>G (p.Gln1007Arg)
c.995A>G (p.Gln332Arg)
n.3394A>G
c.215A>G (p.Gln72Arg)
c.3038A>G (p.Gln1013Arg)
c.2084A>G (n.2084A>G)
c.289A>G
c.998A>G (p.Gln333Arg)
c.540A>G
c.3041A>G (p.Gln1014Arg)
c.3023A>G (p.Gln1008Arg)
c.2861A>G (p.Gln954Arg)
c.2969A>G (p.Gln990Arg)
c.2951A>G (p.Gln984Arg)
c.2675A>G (p.Gln892Arg)
n.3250A>G
c.2843A>G (p.Gln948Arg)
c.2657A>G (p.Gln886Arg)
n.3253A>G
c.2948A>G (p.Gln983Arg)
c.3014A>G (p.Gln1005Arg)
c.2966A>G (p.Gln989Arg)
c.2831A>G (p.Gln944Arg)
c.2896-66A>G (n.2896-66A>G)
16g.28836057A>TCA395409219ATXN2Lc.3020A>T (p.Gln1007Leu)
c.995A>T (p.Gln332Leu)
n.3394A>T
c.215A>T (p.Gln72Leu)
c.3038A>T (p.Gln1013Leu)
c.2084A>T (n.2084A>T)
c.289A>T
c.998A>T (p.Gln333Leu)
c.540A>T
c.3041A>T (p.Gln1014Leu)
c.3023A>T (p.Gln1008Leu)
c.2861A>T (p.Gln954Leu)
c.2969A>T (p.Gln990Leu)
c.2951A>T (p.Gln984Leu)
c.2675A>T (p.Gln892Leu)
n.3250A>T
c.2843A>T (p.Gln948Leu)
c.2657A>T (p.Gln886Leu)
n.3253A>T
c.2948A>T (p.Gln983Leu)
c.3014A>T (p.Gln1005Leu)
c.2966A>T (p.Gln989Leu)
c.2831A>T (p.Gln944Leu)
c.2896-66A>T (n.2896-66A>T)
16g.28836058G>ACA494869254ATXN2Lc.3021G>A (p.Gln1007=)
c.996G>A (p.Gln332=)
n.3395G>A
c.216G>A (p.Gln72=)
c.3039G>A (p.Gln1013=)
c.2085G>A (n.2085G>A)
c.290G>A
c.999G>A (p.Gln333=)
c.541G>A
c.3042G>A (p.Gln1014=)
c.3024G>A (p.Gln1008=)
c.2862G>A (p.Gln954=)
c.2970G>A (p.Gln990=)
c.2952G>A (p.Gln984=)
c.2676G>A (p.Gln892=)
n.3251G>A
c.2844G>A (p.Gln948=)
c.2658G>A (p.Gln886=)
n.3254G>A
c.2949G>A (p.Gln983=)
c.3015G>A (p.Gln1005=)
c.2967G>A (p.Gln989=)
c.2832G>A (p.Gln944=)
c.2896-65G>A (n.2896-65G>A)
16g.28836058G>CCA395409220ATXN2Lc.3021G>C (p.Gln1007His)
c.996G>C (p.Gln332His)
n.3395G>C
c.216G>C (p.Gln72His)
c.3039G>C (p.Gln1013His)
c.2085G>C (n.2085G>C)
c.290G>C
c.999G>C (p.Gln333His)
c.541G>C
c.3042G>C (p.Gln1014His)
c.3024G>C (p.Gln1008His)
c.2862G>C (p.Gln954His)
c.2970G>C (p.Gln990His)
c.2952G>C (p.Gln984His)
c.2676G>C (p.Gln892His)
n.3251G>C
c.2844G>C (p.Gln948His)
c.2658G>C (p.Gln886His)
n.3254G>C
c.2949G>C (p.Gln983His)
c.3015G>C (p.Gln1005His)
c.2967G>C (p.Gln989His)
c.2832G>C (p.Gln944His)
c.2896-65G>C (n.2896-65G>C)
16g.28836058G>TCA395409221ATXN2Lc.3021G>T (p.Gln1007His)
c.996G>T (p.Gln332His)
n.3395G>T
c.216G>T (p.Gln72His)
c.3039G>T (p.Gln1013His)
c.2085G>T (n.2085G>T)
c.290G>T
c.999G>T (p.Gln333His)
c.541G>T
c.3042G>T (p.Gln1014His)
c.3024G>T (p.Gln1008His)
c.2862G>T (p.Gln954His)
c.2970G>T (p.Gln990His)
c.2952G>T (p.Gln984His)
c.2676G>T (p.Gln892His)
n.3251G>T
c.2844G>T (p.Gln948His)
c.2658G>T (p.Gln886His)
n.3254G>T
c.2949G>T (p.Gln983His)
c.3015G>T (p.Gln1005His)
c.2967G>T (p.Gln989His)
c.2832G>T (p.Gln944His)
c.2896-65G>T (n.2896-65G>T)
16g.28836059A>CCA395409222ATXN2Lc.3022A>C (p.Ser1008Arg)
c.997A>C (p.Ser333Arg)
n.3396A>C
c.217A>C (p.Ser73Arg)
c.3040A>C (p.Ser1014Arg)
c.2086A>C (n.2086A>C)
c.291A>C
c.1000A>C (p.Ser334Arg)
c.542A>C
c.3043A>C (p.Ser1015Arg)
c.3025A>C (p.Ser1009Arg)
c.2863A>C (p.Ser955Arg)
c.2971A>C (p.Ser991Arg)
c.2953A>C (p.Ser985Arg)
c.2677A>C (p.Ser893Arg)
n.3252A>C
c.2845A>C (p.Ser949Arg)
c.2659A>C (p.Ser887Arg)
n.3255A>C
c.2950A>C (p.Ser984Arg)
c.3016A>C (p.Ser1006Arg)
c.2968A>C (p.Ser990Arg)
c.2833A>C (p.Ser945Arg)
c.2896-64A>C (n.2896-64A>C)
16g.28836059A>GCA395409223ATXN2Lc.3022A>G (p.Ser1008Gly)
c.997A>G (p.Ser333Gly)
n.3396A>G
c.217A>G (p.Ser73Gly)
c.3040A>G (p.Ser1014Gly)
c.2086A>G (n.2086A>G)
c.291A>G
c.1000A>G (p.Ser334Gly)
c.542A>G
c.3043A>G (p.Ser1015Gly)
c.3025A>G (p.Ser1009Gly)
c.2863A>G (p.Ser955Gly)
c.2971A>G (p.Ser991Gly)
c.2953A>G (p.Ser985Gly)
c.2677A>G (p.Ser893Gly)
n.3252A>G
c.2845A>G (p.Ser949Gly)
c.2659A>G (p.Ser887Gly)
n.3255A>G
c.2950A>G (p.Ser984Gly)
c.3016A>G (p.Ser1006Gly)
c.2968A>G (p.Ser990Gly)
c.2833A>G (p.Ser945Gly)
c.2896-64A>G (n.2896-64A>G)
16g.28836059A>TCA395409224ATXN2Lc.3022A>T (p.Ser1008Cys)
c.997A>T (p.Ser333Cys)
n.3396A>T
c.217A>T (p.Ser73Cys)
c.3040A>T (p.Ser1014Cys)
c.2086A>T (n.2086A>T)
c.291A>T
c.1000A>T (p.Ser334Cys)
c.542A>T
c.3043A>T (p.Ser1015Cys)
c.3025A>T (p.Ser1009Cys)
c.2863A>T (p.Ser955Cys)
c.2971A>T (p.Ser991Cys)
c.2953A>T (p.Ser985Cys)
c.2677A>T (p.Ser893Cys)
n.3252A>T
c.2845A>T (p.Ser949Cys)
c.2659A>T (p.Ser887Cys)
n.3255A>T
c.2950A>T (p.Ser984Cys)
c.3016A>T (p.Ser1006Cys)
c.2968A>T (p.Ser990Cys)
c.2833A>T (p.Ser945Cys)
c.2896-64A>T (n.2896-64A>T)
16g.28836060G>ACA395409225ATXN2Lc.3023G>A (p.Ser1008Asn)
c.998G>A (p.Ser333Asn)
n.3397G>A
c.218G>A (p.Ser73Asn)
c.3041G>A (p.Ser1014Asn)
c.2087G>A (n.2087G>A)
c.292G>A
c.1001G>A (p.Ser334Asn)
c.543G>A
c.3044G>A (p.Ser1015Asn)
c.3026G>A (p.Ser1009Asn)
c.2864G>A (p.Ser955Asn)
c.2972G>A (p.Ser991Asn)
c.2954G>A (p.Ser985Asn)
c.2678G>A (p.Ser893Asn)
n.3253G>A
c.2846G>A (p.Ser949Asn)
c.2660G>A (p.Ser887Asn)
n.3256G>A
c.2951G>A (p.Ser984Asn)
c.3017G>A (p.Ser1006Asn)
c.2969G>A (p.Ser990Asn)
c.2834G>A (p.Ser945Asn)
c.2896-63G>A (n.2896-63G>A)
16g.28836060G>CCA395409226ATXN2Lc.3023G>C (p.Ser1008Thr)
c.998G>C (p.Ser333Thr)
n.3397G>C
c.218G>C (p.Ser73Thr)
c.3041G>C (p.Ser1014Thr)
c.2087G>C (n.2087G>C)
c.292G>C
c.1001G>C (p.Ser334Thr)
c.543G>C
c.3044G>C (p.Ser1015Thr)
c.3026G>C (p.Ser1009Thr)
c.2864G>C (p.Ser955Thr)
c.2972G>C (p.Ser991Thr)
c.2954G>C (p.Ser985Thr)
c.2678G>C (p.Ser893Thr)
n.3253G>C
c.2846G>C (p.Ser949Thr)
c.2660G>C (p.Ser887Thr)
n.3256G>C
c.2951G>C (p.Ser984Thr)
c.3017G>C (p.Ser1006Thr)
c.2969G>C (p.Ser990Thr)
c.2834G>C (p.Ser945Thr)
c.2896-63G>C (n.2896-63G>C)
16g.28836060G>TCA395409227ATXN2Lc.3023G>T (p.Ser1008Ile)
c.998G>T (p.Ser333Ile)
n.3397G>T
c.218G>T (p.Ser73Ile)
c.3041G>T (p.Ser1014Ile)
c.2087G>T (n.2087G>T)
c.292G>T
c.1001G>T (p.Ser334Ile)
c.543G>T
c.3044G>T (p.Ser1015Ile)
c.3026G>T (p.Ser1009Ile)
c.2864G>T (p.Ser955Ile)
c.2972G>T (p.Ser991Ile)
c.2954G>T (p.Ser985Ile)
c.2678G>T (p.Ser893Ile)
n.3253G>T
c.2846G>T (p.Ser949Ile)
c.2660G>T (p.Ser887Ile)
n.3256G>T
c.2951G>T (p.Ser984Ile)
c.3017G>T (p.Ser1006Ile)
c.2969G>T (p.Ser990Ile)
c.2834G>T (p.Ser945Ile)
c.2896-63G>T (n.2896-63G>T)
16g.28836061T>ACA395409228ATXN2Lc.3024T>A (p.Ser1008Arg)
c.999T>A (p.Ser333Arg)
n.3398T>A
c.219T>A (p.Ser73Arg)
c.3042T>A (p.Ser1014Arg)
c.2088T>A (n.2088T>A)
c.293T>A
c.1002T>A (p.Ser334Arg)
c.544T>A
c.3045T>A (p.Ser1015Arg)
c.3027T>A (p.Ser1009Arg)
c.2865T>A (p.Ser955Arg)
c.2973T>A (p.Ser991Arg)
c.2955T>A (p.Ser985Arg)
c.2679T>A (p.Ser893Arg)
n.3254T>A
c.2847T>A (p.Ser949Arg)
c.2661T>A (p.Ser887Arg)
n.3257T>A
c.2952T>A (p.Ser984Arg)
c.3018T>A (p.Ser1006Arg)
c.2970T>A (p.Ser990Arg)
c.2835T>A (p.Ser945Arg)
c.2896-62T>A (n.2896-62T>A)
16g.28836061T>CCA494869268ATXN2Lc.3024T>C (p.Ser1008=)
c.999T>C (p.Ser333=)
n.3398T>C
c.219T>C (p.Ser73=)
c.3042T>C (p.Ser1014=)
c.2088T>C (n.2088T>C)
c.293T>C
c.1002T>C (p.Ser334=)
c.544T>C
c.3045T>C (p.Ser1015=)
c.3027T>C (p.Ser1009=)
c.2865T>C (p.Ser955=)
c.2973T>C (p.Ser991=)
c.2955T>C (p.Ser985=)
c.2679T>C (p.Ser893=)
n.3254T>C
c.2847T>C (p.Ser949=)
c.2661T>C (p.Ser887=)
n.3257T>C
c.2952T>C (p.Ser984=)
c.3018T>C (p.Ser1006=)
c.2970T>C (p.Ser990=)
c.2835T>C (p.Ser945=)
c.2896-62T>C (n.2896-62T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.28836061T>GCA395409229ATXN2Lc.3024T>G (p.Ser1008Arg)
c.999T>G (p.Ser333Arg)
n.3398T>G
c.219T>G (p.Ser73Arg)
c.3042T>G (p.Ser1014Arg)
c.2088T>G (n.2088T>G)
c.293T>G
c.1002T>G (p.Ser334Arg)
c.544T>G
c.3045T>G (p.Ser1015Arg)
c.3027T>G (p.Ser1009Arg)
c.2865T>G (p.Ser955Arg)
c.2973T>G (p.Ser991Arg)
c.2955T>G (p.Ser985Arg)
c.2679T>G (p.Ser893Arg)
n.3254T>G
c.2847T>G (p.Ser949Arg)
c.2661T>G (p.Ser887Arg)
n.3257T>G
c.2952T>G (p.Ser984Arg)
c.3018T>G (p.Ser1006Arg)
c.2970T>G (p.Ser990Arg)
c.2835T>G (p.Ser945Arg)
c.2896-62T>G (n.2896-62T>G)
 gnomAD v4
16g.28836061T=CA2215806879ATXN2Lc.3024T= (p.Ser1008=)
c.999T= (p.Ser333=)
n.3398T=
c.219T= (p.Ser73=)
c.3042T= (p.Ser1014=)
c.2088T= (n.2088T=)
c.293T=
c.1002T= (p.Ser334=)
c.544T=
c.3045T= (p.Ser1015=)
c.3027T= (p.Ser1009=)
c.2865T= (p.Ser955=)
c.2973T= (p.Ser991=)
c.2955T= (p.Ser985=)
c.2679T= (p.Ser893=)
n.3254T=
c.2847T= (p.Ser949=)
c.2661T= (p.Ser887=)
n.3257T=
c.2952T= (p.Ser984=)
c.3018T= (p.Ser1006=)
c.2970T= (p.Ser990=)
c.2835T= (p.Ser945=)
c.2896-62T= (n.2896-62T=)
16g.28836062G>ACA395409230ATXN2Lc.3025G>A (p.Gly1009Arg)
c.1000G>A (p.Gly334Arg)
n.3399G>A
c.220G>A (p.Gly74Arg)
c.3043G>A (p.Gly1015Arg)
c.2089G>A (n.2089G>A)
c.294G>A
c.1003G>A (p.Gly335Arg)
c.545G>A
c.3046G>A (p.Gly1016Arg)
c.3028G>A (p.Gly1010Arg)
c.2866G>A (p.Gly956Arg)
c.2974G>A (p.Gly992Arg)
c.2956G>A (p.Gly986Arg)
c.2680G>A (p.Gly894Arg)
n.3255G>A
c.2848G>A (p.Gly950Arg)
c.2662G>A (p.Gly888Arg)
n.3258G>A
c.2953G>A (p.Gly985Arg)
c.3019G>A (p.Gly1007Arg)
c.2971G>A (p.Gly991Arg)
c.2836G>A (p.Gly946Arg)
c.2896-61G>A (n.2896-61G>A)
16g.28836062G>CCA395409231ATXN2Lc.3025G>C (p.Gly1009Arg)
c.1000G>C (p.Gly334Arg)
n.3399G>C
c.220G>C (p.Gly74Arg)
c.3043G>C (p.Gly1015Arg)
c.2089G>C (n.2089G>C)
c.294G>C
c.1003G>C (p.Gly335Arg)
c.545G>C
c.3046G>C (p.Gly1016Arg)
c.3028G>C (p.Gly1010Arg)
c.2866G>C (p.Gly956Arg)
c.2974G>C (p.Gly992Arg)
c.2956G>C (p.Gly986Arg)
c.2680G>C (p.Gly894Arg)
n.3255G>C
c.2848G>C (p.Gly950Arg)
c.2662G>C (p.Gly888Arg)
n.3258G>C
c.2953G>C (p.Gly985Arg)
c.3019G>C (p.Gly1007Arg)
c.2971G>C (p.Gly991Arg)
c.2836G>C (p.Gly946Arg)
c.2896-61G>C (n.2896-61G>C)
16g.28836062G>TCA395409232ATXN2Lc.3025G>T (p.Gly1009Trp)
c.1000G>T (p.Gly334Trp)
n.3399G>T
c.220G>T (p.Gly74Trp)
c.3043G>T (p.Gly1015Trp)
c.2089G>T (n.2089G>T)
c.294G>T
c.1003G>T (p.Gly335Trp)
c.545G>T
c.3046G>T (p.Gly1016Trp)
c.3028G>T (p.Gly1010Trp)
c.2866G>T (p.Gly956Trp)
c.2974G>T (p.Gly992Trp)
c.2956G>T (p.Gly986Trp)
c.2680G>T (p.Gly894Trp)
n.3255G>T
c.2848G>T (p.Gly950Trp)
c.2662G>T (p.Gly888Trp)
n.3258G>T
c.2953G>T (p.Gly985Trp)
c.3019G>T (p.Gly1007Trp)
c.2971G>T (p.Gly991Trp)
c.2836G>T (p.Gly946Trp)
c.2896-61G>T (n.2896-61G>T)
16g.28836063G>ACA395409234ATXN2Lc.3026G>A (p.Gly1009Glu)
c.1001G>A (p.Gly334Glu)
n.3400G>A
c.221G>A (p.Gly74Glu)
c.3044G>A (p.Gly1015Glu)
c.2090G>A (n.2090G>A)
c.295G>A
c.1004G>A (p.Gly335Glu)
c.546G>A
c.3047G>A (p.Gly1016Glu)
c.3029G>A (p.Gly1010Glu)
c.2867G>A (p.Gly956Glu)
c.2975G>A (p.Gly992Glu)
c.2957G>A (p.Gly986Glu)
c.2681G>A (p.Gly894Glu)
n.3256G>A
c.2849G>A (p.Gly950Glu)
c.2663G>A (p.Gly888Glu)
n.3259G>A
c.2954G>A (p.Gly985Glu)
c.3020G>A (p.Gly1007Glu)
c.2972G>A (p.Gly991Glu)
c.2837G>A (p.Gly946Glu)
c.2896-60G>A (n.2896-60G>A)
16g.28836063G>CCA395409235ATXN2Lc.3026G>C (p.Gly1009Ala)
c.1001G>C (p.Gly334Ala)
n.3400G>C
c.221G>C (p.Gly74Ala)
c.3044G>C (p.Gly1015Ala)
c.2090G>C (n.2090G>C)
c.295G>C
c.1004G>C (p.Gly335Ala)
c.546G>C
c.3047G>C (p.Gly1016Ala)
c.3029G>C (p.Gly1010Ala)
c.2867G>C (p.Gly956Ala)
c.2975G>C (p.Gly992Ala)
c.2957G>C (p.Gly986Ala)
c.2681G>C (p.Gly894Ala)
n.3256G>C
c.2849G>C (p.Gly950Ala)
c.2663G>C (p.Gly888Ala)
n.3259G>C
c.2954G>C (p.Gly985Ala)
c.3020G>C (p.Gly1007Ala)
c.2972G>C (p.Gly991Ala)
c.2837G>C (p.Gly946Ala)
c.2896-60G>C (n.2896-60G>C)
 gnomAD v4
16g.28836063G>TCA395409233ATXN2Lc.3026G>T (p.Gly1009Val)
c.1001G>T (p.Gly334Val)
n.3400G>T
c.221G>T (p.Gly74Val)
c.3044G>T (p.Gly1015Val)
c.2090G>T (n.2090G>T)
c.295G>T
c.1004G>T (p.Gly335Val)
c.546G>T
c.3047G>T (p.Gly1016Val)
c.3029G>T (p.Gly1010Val)
c.2867G>T (p.Gly956Val)
c.2975G>T (p.Gly992Val)
c.2957G>T (p.Gly986Val)
c.2681G>T (p.Gly894Val)
n.3256G>T
c.2849G>T (p.Gly950Val)
c.2663G>T (p.Gly888Val)
n.3259G>T
c.2954G>T (p.Gly985Val)
c.3020G>T (p.Gly1007Val)
c.2972G>T (p.Gly991Val)
c.2837G>T (p.Gly946Val)
c.2896-60G>T (n.2896-60G>T)
16g.28836064G>ACA7985160ATXN2Lc.3027G>A (p.Gly1009=)
c.1002G>A (p.Gly334=)
n.3401G>A
c.222G>A (p.Gly74=)
c.3045G>A (p.Gly1015=)
c.2091G>A (n.2091G>A)
c.296G>A
c.1005G>A (p.Gly335=)
c.547G>A
c.3048G>A (p.Gly1016=)
c.3030G>A (p.Gly1010=)
c.2868G>A (p.Gly956=)
c.2976G>A (p.Gly992=)
c.2958G>A (p.Gly986=)
c.2682G>A (p.Gly894=)
n.3257G>A
c.2850G>A (p.Gly950=)
c.2664G>A (p.Gly888=)
n.3260G>A
c.2955G>A (p.Gly985=)
c.3021G>A (p.Gly1007=)
c.2973G>A (p.Gly991=)
c.2838G>A (p.Gly946=)
c.2896-59G>A (n.2896-59G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836064G>CCA7985161ATXN2Lc.3027G>C (p.Gly1009=)
c.1002G>C (p.Gly334=)
n.3401G>C
c.222G>C (p.Gly74=)
c.3045G>C (p.Gly1015=)
c.2091G>C (n.2091G>C)
c.296G>C
c.1005G>C (p.Gly335=)
c.547G>C
c.3048G>C (p.Gly1016=)
c.3030G>C (p.Gly1010=)
c.2868G>C (p.Gly956=)
c.2976G>C (p.Gly992=)
c.2958G>C (p.Gly986=)
c.2682G>C (p.Gly894=)
n.3257G>C
c.2850G>C (p.Gly950=)
c.2664G>C (p.Gly888=)
n.3260G>C
c.2955G>C (p.Gly985=)
c.3021G>C (p.Gly1007=)
c.2973G>C (p.Gly991=)
c.2838G>C (p.Gly946=)
c.2896-59G>C (n.2896-59G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836064G=CA2215806884ATXN2Lc.3027G= (p.Gly1009=)
c.1002G= (p.Gly334=)
n.3401G=
c.222G= (p.Gly74=)
c.3045G= (p.Gly1015=)
c.2091G= (n.2091G=)
c.296G=
c.1005G= (p.Gly335=)
c.547G=
c.3048G= (p.Gly1016=)
c.3030G= (p.Gly1010=)
c.2868G= (p.Gly956=)
c.2976G= (p.Gly992=)
c.2958G= (p.Gly986=)
c.2682G= (p.Gly894=)
n.3257G=
c.2850G= (p.Gly950=)
c.2664G= (p.Gly888=)
n.3260G=
c.2955G= (p.Gly985=)
c.3021G= (p.Gly1007=)
c.2973G= (p.Gly991=)
c.2838G= (p.Gly946=)
c.2896-59G= (n.2896-59G=)
16g.28836064G>TCA494869330ATXN2Lc.3027G>T (p.Gly1009=)
c.1002G>T (p.Gly334=)
n.3401G>T
c.222G>T (p.Gly74=)
c.3045G>T (p.Gly1015=)
c.2091G>T (n.2091G>T)
c.296G>T
c.1005G>T (p.Gly335=)
c.547G>T
c.3048G>T (p.Gly1016=)
c.3030G>T (p.Gly1010=)
c.2868G>T (p.Gly956=)
c.2976G>T (p.Gly992=)
c.2958G>T (p.Gly986=)
c.2682G>T (p.Gly894=)
n.3257G>T
c.2850G>T (p.Gly950=)
c.2664G>T (p.Gly888=)
n.3260G>T
c.2955G>T (p.Gly985=)
c.3021G>T (p.Gly1007=)
c.2973G>T (p.Gly991=)
c.2838G>T (p.Gly946=)
c.2896-59G>T (n.2896-59G>T)
16g.28836065G>ACA395409236ATXN2Lc.3028G>A (p.Val1010Met)
c.1003G>A (p.Val335Met)
n.3402G>A
c.223G>A (p.Val75Met)
c.3046G>A (p.Val1016Met)
c.2092G>A (n.2092G>A)
c.297G>A
c.1006G>A (p.Val336Met)
c.548G>A
c.3049G>A (p.Val1017Met)
c.3031G>A (p.Val1011Met)
c.2869G>A (p.Val957Met)
c.2977G>A (p.Val993Met)
c.2959G>A (p.Val987Met)
c.2683G>A (p.Val895Met)
n.3258G>A
c.2851G>A (p.Val951Met)
c.2665G>A (p.Val889Met)
n.3261G>A
c.2956G>A (p.Val986Met)
c.3022G>A (p.Val1008Met)
c.2974G>A (p.Val992Met)
c.2839G>A (p.Val947Met)
c.2896-58G>A (n.2896-58G>A)
 gnomAD v4
16g.28836065G>CCA395409237ATXN2Lc.3028G>C (p.Val1010Leu)
c.1003G>C (p.Val335Leu)
n.3402G>C
c.223G>C (p.Val75Leu)
c.3046G>C (p.Val1016Leu)
c.2092G>C (n.2092G>C)
c.297G>C
c.1006G>C (p.Val336Leu)
c.548G>C
c.3049G>C (p.Val1017Leu)
c.3031G>C (p.Val1011Leu)
c.2869G>C (p.Val957Leu)
c.2977G>C (p.Val993Leu)
c.2959G>C (p.Val987Leu)
c.2683G>C (p.Val895Leu)
n.3258G>C
c.2851G>C (p.Val951Leu)
c.2665G>C (p.Val889Leu)
n.3261G>C
c.2956G>C (p.Val986Leu)
c.3022G>C (p.Val1008Leu)
c.2974G>C (p.Val992Leu)
c.2839G>C (p.Val947Leu)
c.2896-58G>C (n.2896-58G>C)
16g.28836065G=CA2215806887ATXN2Lc.3028G= (p.Val1010=)
c.1003G= (p.Val335=)
n.3402G=
c.223G= (p.Val75=)
c.3046G= (p.Val1016=)
c.2092G= (n.2092G=)
c.297G=
c.1006G= (p.Val336=)
c.548G=
c.3049G= (p.Val1017=)
c.3031G= (p.Val1011=)
c.2869G= (p.Val957=)
c.2977G= (p.Val993=)
c.2959G= (p.Val987=)
c.2683G= (p.Val895=)
n.3258G=
c.2851G= (p.Val951=)
c.2665G= (p.Val889=)
n.3261G=
c.2956G= (p.Val986=)
c.3022G= (p.Val1008=)
c.2974G= (p.Val992=)
c.2839G= (p.Val947=)
c.2896-58G= (n.2896-58G=)
16g.28836065G>TCA395409238ATXN2Lc.3028G>T (p.Val1010Leu)
c.1003G>T (p.Val335Leu)
n.3402G>T
c.223G>T (p.Val75Leu)
c.3046G>T (p.Val1016Leu)
c.2092G>T (n.2092G>T)
c.297G>T
c.1006G>T (p.Val336Leu)
c.548G>T
c.3049G>T (p.Val1017Leu)
c.3031G>T (p.Val1011Leu)
c.2869G>T (p.Val957Leu)
c.2977G>T (p.Val993Leu)
c.2959G>T (p.Val987Leu)
c.2683G>T (p.Val895Leu)
n.3258G>T
c.2851G>T (p.Val951Leu)
c.2665G>T (p.Val889Leu)
n.3261G>T
c.2956G>T (p.Val986Leu)
c.3022G>T (p.Val1008Leu)
c.2974G>T (p.Val992Leu)
c.2839G>T (p.Val947Leu)
c.2896-58G>T (n.2896-58G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.28836066T>ACA395409239ATXN2Lc.3029T>A (p.Val1010Glu)
c.1004T>A (p.Val335Glu)
n.3403T>A
c.224T>A (p.Val75Glu)
c.3047T>A (p.Val1016Glu)
c.2093T>A (n.2093T>A)
c.298T>A
c.1007T>A (p.Val336Glu)
c.549T>A
c.3050T>A (p.Val1017Glu)
c.3032T>A (p.Val1011Glu)
c.2870T>A (p.Val957Glu)
c.2978T>A (p.Val993Glu)
c.2960T>A (p.Val987Glu)
c.2684T>A (p.Val895Glu)
n.3259T>A
c.2852T>A (p.Val951Glu)
c.2666T>A (p.Val889Glu)
n.3262T>A
c.2957T>A (p.Val986Glu)
c.3023T>A (p.Val1008Glu)
c.2975T>A (p.Val992Glu)
c.2840T>A (p.Val947Glu)
c.2896-57T>A (n.2896-57T>A)
16g.28836066T>CCA395409240ATXN2Lc.3029T>C (p.Val1010Ala)
c.1004T>C (p.Val335Ala)
n.3403T>C
c.224T>C (p.Val75Ala)
c.3047T>C (p.Val1016Ala)
c.2093T>C (n.2093T>C)
c.298T>C
c.1007T>C (p.Val336Ala)
c.549T>C
c.3050T>C (p.Val1017Ala)
c.3032T>C (p.Val1011Ala)
c.2870T>C (p.Val957Ala)
c.2978T>C (p.Val993Ala)
c.2960T>C (p.Val987Ala)
c.2684T>C (p.Val895Ala)
n.3259T>C
c.2852T>C (p.Val951Ala)
c.2666T>C (p.Val889Ala)
n.3262T>C
c.2957T>C (p.Val986Ala)
c.3023T>C (p.Val1008Ala)
c.2975T>C (p.Val992Ala)
c.2840T>C (p.Val947Ala)
c.2896-57T>C (n.2896-57T>C)
16g.28836066T>GCA395409241ATXN2Lc.3029T>G (p.Val1010Gly)
c.1004T>G (p.Val335Gly)
n.3403T>G
c.224T>G (p.Val75Gly)
c.3047T>G (p.Val1016Gly)
c.2093T>G (n.2093T>G)
c.298T>G
c.1007T>G (p.Val336Gly)
c.549T>G
c.3050T>G (p.Val1017Gly)
c.3032T>G (p.Val1011Gly)
c.2870T>G (p.Val957Gly)
c.2978T>G (p.Val993Gly)
c.2960T>G (p.Val987Gly)
c.2684T>G (p.Val895Gly)
n.3259T>G
c.2852T>G (p.Val951Gly)
c.2666T>G (p.Val889Gly)
n.3262T>G
c.2957T>G (p.Val986Gly)
c.3023T>G (p.Val1008Gly)
c.2975T>G (p.Val992Gly)
c.2840T>G (p.Val947Gly)
c.2896-57T>G (n.2896-57T>G)
16g.28836067G>ACA279230914ATXN2Lc.3030G>A (p.Val1010=)
c.1005G>A (p.Val335=)
n.3404G>A
c.225G>A (p.Val75=)
c.3048G>A (p.Val1016=)
c.2094G>A (n.2094G>A)
c.299G>A
c.1008G>A (p.Val336=)
c.550G>A
c.3051G>A (p.Val1017=)
c.3033G>A (p.Val1011=)
c.2871G>A (p.Val957=)
c.2979G>A (p.Val993=)
c.2961G>A (p.Val987=)
c.2685G>A (p.Val895=)
n.3260G>A
c.2853G>A (p.Val951=)
c.2667G>A (p.Val889=)
n.3263G>A
c.2958G>A (p.Val986=)
c.3024G>A (p.Val1008=)
c.2976G>A (p.Val992=)
c.2841G>A (p.Val947=)
c.2896-56G>A (n.2896-56G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.28836067G>CCA494869339ATXN2Lc.3030G>C (p.Val1010=)
c.1005G>C (p.Val335=)
n.3404G>C
c.225G>C (p.Val75=)
c.3048G>C (p.Val1016=)
c.2094G>C (n.2094G>C)
c.299G>C
c.1008G>C (p.Val336=)
c.550G>C
c.3051G>C (p.Val1017=)
c.3033G>C (p.Val1011=)
c.2871G>C (p.Val957=)
c.2979G>C (p.Val993=)
c.2961G>C (p.Val987=)
c.2685G>C (p.Val895=)
n.3260G>C
c.2853G>C (p.Val951=)
c.2667G>C (p.Val889=)
n.3263G>C
c.2958G>C (p.Val986=)
c.3024G>C (p.Val1008=)
c.2976G>C (p.Val992=)
c.2841G>C (p.Val947=)
c.2896-56G>C (n.2896-56G>C)
16g.28836067G=CA2215806890ATXN2Lc.3030G= (p.Val1010=)
c.1005G= (p.Val335=)
n.3404G=
c.225G= (p.Val75=)
c.3048G= (p.Val1016=)
c.2094G= (n.2094G=)
c.299G=
c.1008G= (p.Val336=)
c.550G=
c.3051G= (p.Val1017=)
c.3033G= (p.Val1011=)
c.2871G= (p.Val957=)
c.2979G= (p.Val993=)
c.2961G= (p.Val987=)
c.2685G= (p.Val895=)
n.3260G=
c.2853G= (p.Val951=)
c.2667G= (p.Val889=)
n.3263G=
c.2958G= (p.Val986=)
c.3024G= (p.Val1008=)
c.2976G= (p.Val992=)
c.2841G= (p.Val947=)
c.2896-56G= (n.2896-56G=)
16g.28836067G>TCA494869341ATXN2Lc.3030G>T (p.Val1010=)
c.1005G>T (p.Val335=)
n.3404G>T
c.225G>T (p.Val75=)
c.3048G>T (p.Val1016=)
c.2094G>T (n.2094G>T)
c.299G>T
c.1008G>T (p.Val336=)
c.550G>T
c.3051G>T (p.Val1017=)
c.3033G>T (p.Val1011=)
c.2871G>T (p.Val957=)
c.2979G>T (p.Val993=)
c.2961G>T (p.Val987=)
c.2685G>T (p.Val895=)
n.3260G>T
c.2853G>T (p.Val951=)
c.2667G>T (p.Val889=)
n.3263G>T
c.2958G>T (p.Val986=)
c.3024G>T (p.Val1008=)
c.2976G>T (p.Val992=)
c.2841G>T (p.Val947=)
c.2896-56G>T (n.2896-56G>T)
 gnomAD v4
16g.28836068C>ACA7985163ATXN2Lc.3031C>A (p.Pro1011Thr)
c.1006C>A (p.Pro336Thr)
n.3405C>A
c.226C>A (p.Pro76Thr)
c.3049C>A (p.Pro1017Thr)
c.2095C>A (n.2095C>A)
c.300C>A
c.1009C>A (p.Pro337Thr)
c.551C>A
c.3052C>A (p.Pro1018Thr)
c.3034C>A (p.Pro1012Thr)
c.2872C>A (p.Pro958Thr)
c.2980C>A (p.Pro994Thr)
c.2962C>A (p.Pro988Thr)
c.2686C>A (p.Pro896Thr)
n.3261C>A
c.2854C>A (p.Pro952Thr)
c.2668C>A (p.Pro890Thr)
n.3264C>A
c.2959C>A (p.Pro987Thr)
c.3025C>A (p.Pro1009Thr)
c.2977C>A (p.Pro993Thr)
c.2842C>A (p.Pro948Thr)
c.2896-55C>A (n.2896-55C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836068C=CA2215806894ATXN2Lc.3031C= (p.Pro1011=)
c.1006C= (p.Pro336=)
n.3405C=
c.226C= (p.Pro76=)
c.3049C= (p.Pro1017=)
c.2095C= (n.2095C=)
c.300C=
c.1009C= (p.Pro337=)
c.551C=
c.3052C= (p.Pro1018=)
c.3034C= (p.Pro1012=)
c.2872C= (p.Pro958=)
c.2980C= (p.Pro994=)
c.2962C= (p.Pro988=)
c.2686C= (p.Pro896=)
n.3261C=
c.2854C= (p.Pro952=)
c.2668C= (p.Pro890=)
n.3264C=
c.2959C= (p.Pro987=)
c.3025C= (p.Pro1009=)
c.2977C= (p.Pro993=)
c.2842C= (p.Pro948=)
c.2896-55C= (n.2896-55C=)
16g.28836068C>GCA395409242ATXN2Lc.3031C>G (p.Pro1011Ala)
c.1006C>G (p.Pro336Ala)
n.3405C>G
c.226C>G (p.Pro76Ala)
c.3049C>G (p.Pro1017Ala)
c.2095C>G (n.2095C>G)
c.300C>G
c.1009C>G (p.Pro337Ala)
c.551C>G
c.3052C>G (p.Pro1018Ala)
c.3034C>G (p.Pro1012Ala)
c.2872C>G (p.Pro958Ala)
c.2980C>G (p.Pro994Ala)
c.2962C>G (p.Pro988Ala)
c.2686C>G (p.Pro896Ala)
n.3261C>G
c.2854C>G (p.Pro952Ala)
c.2668C>G (p.Pro890Ala)
n.3264C>G
c.2959C>G (p.Pro987Ala)
c.3025C>G (p.Pro1009Ala)
c.2977C>G (p.Pro993Ala)
c.2842C>G (p.Pro948Ala)
c.2896-55C>G (n.2896-55C>G)
16g.28836068C>TCA7985162ATXN2Lc.3031C>T (p.Pro1011Ser)
c.1006C>T (p.Pro336Ser)
n.3405C>T
c.226C>T (p.Pro76Ser)
c.3049C>T (p.Pro1017Ser)
c.2095C>T (n.2095C>T)
c.300C>T
c.1009C>T (p.Pro337Ser)
c.551C>T
c.3052C>T (p.Pro1018Ser)
c.3034C>T (p.Pro1012Ser)
c.2872C>T (p.Pro958Ser)
c.2980C>T (p.Pro994Ser)
c.2962C>T (p.Pro988Ser)
c.2686C>T (p.Pro896Ser)
n.3261C>T
c.2854C>T (p.Pro952Ser)
c.2668C>T (p.Pro890Ser)
n.3264C>T
c.2959C>T (p.Pro987Ser)
c.3025C>T (p.Pro1009Ser)
c.2977C>T (p.Pro993Ser)
c.2842C>T (p.Pro948Ser)
c.2896-55C>T (n.2896-55C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836069C>ACA395409244ATXN2Lc.3032C>A (p.Pro1011His)
c.1007C>A (p.Pro336His)
n.3406C>A
c.227C>A (p.Pro76His)
c.3050C>A (p.Pro1017His)
c.2096C>A (n.2096C>A)
c.301C>A
c.1010C>A (p.Pro337His)
c.552C>A
c.3053C>A (p.Pro1018His)
c.3035C>A (p.Pro1012His)
c.2873C>A (p.Pro958His)
c.2981C>A (p.Pro994His)
c.2963C>A (p.Pro988His)
c.2687C>A (p.Pro896His)
n.3262C>A
c.2855C>A (p.Pro952His)
c.2669C>A (p.Pro890His)
n.3265C>A
c.2960C>A (p.Pro987His)
c.3026C>A (p.Pro1009His)
c.2978C>A (p.Pro993His)
c.2843C>A (p.Pro948His)
c.2896-54C>A (n.2896-54C>A)
16g.28836069C=CA2215806896ATXN2Lc.3032C= (p.Pro1011=)
c.1007C= (p.Pro336=)
n.3406C=
c.227C= (p.Pro76=)
c.3050C= (p.Pro1017=)
c.2096C= (n.2096C=)
c.301C=
c.1010C= (p.Pro337=)
c.552C=
c.3053C= (p.Pro1018=)
c.3035C= (p.Pro1012=)
c.2873C= (p.Pro958=)
c.2981C= (p.Pro994=)
c.2963C= (p.Pro988=)
c.2687C= (p.Pro896=)
n.3262C=
c.2855C= (p.Pro952=)
c.2669C= (p.Pro890=)
n.3265C=
c.2960C= (p.Pro987=)
c.3026C= (p.Pro1009=)
c.2978C= (p.Pro993=)
c.2843C= (p.Pro948=)
c.2896-54C= (n.2896-54C=)
16g.28836069C>GCA7985164ATXN2Lc.3032C>G (p.Pro1011Arg)
c.1007C>G (p.Pro336Arg)
n.3406C>G
c.227C>G (p.Pro76Arg)
c.3050C>G (p.Pro1017Arg)
c.2096C>G (n.2096C>G)
c.301C>G
c.1010C>G (p.Pro337Arg)
c.552C>G
c.3053C>G (p.Pro1018Arg)
c.3035C>G (p.Pro1012Arg)
c.2873C>G (p.Pro958Arg)
c.2981C>G (p.Pro994Arg)
c.2963C>G (p.Pro988Arg)
c.2687C>G (p.Pro896Arg)
n.3262C>G
c.2855C>G (p.Pro952Arg)
c.2669C>G (p.Pro890Arg)
n.3265C>G
c.2960C>G (p.Pro987Arg)
c.3026C>G (p.Pro1009Arg)
c.2978C>G (p.Pro993Arg)
c.2843C>G (p.Pro948Arg)
c.2896-54C>G (n.2896-54C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836069C>TCA395409243ATXN2Lc.3032C>T (p.Pro1011Leu)
c.1007C>T (p.Pro336Leu)
n.3406C>T
c.227C>T (p.Pro76Leu)
c.3050C>T (p.Pro1017Leu)
c.2096C>T (n.2096C>T)
c.301C>T
c.1010C>T (p.Pro337Leu)
c.552C>T
c.3053C>T (p.Pro1018Leu)
c.3035C>T (p.Pro1012Leu)
c.2873C>T (p.Pro958Leu)
c.2981C>T (p.Pro994Leu)
c.2963C>T (p.Pro988Leu)
c.2687C>T (p.Pro896Leu)
n.3262C>T
c.2855C>T (p.Pro952Leu)
c.2669C>T (p.Pro890Leu)
n.3265C>T
c.2960C>T (p.Pro987Leu)
c.3026C>T (p.Pro1009Leu)
c.2978C>T (p.Pro993Leu)
c.2843C>T (p.Pro948Leu)
c.2896-54C>T (n.2896-54C>T)
 gnomAD v4
16g.28836070T>ACA494869354ATXN2Lc.3033T>A (p.Pro1011=)
c.1008T>A (p.Pro336=)
n.3407T>A
c.228T>A (p.Pro76=)
c.3051T>A (p.Pro1017=)
c.2097T>A (n.2097T>A)
c.302T>A
c.1011T>A (p.Pro337=)
c.553T>A
c.3054T>A (p.Pro1018=)
c.3036T>A (p.Pro1012=)
c.2874T>A (p.Pro958=)
c.2982T>A (p.Pro994=)
c.2964T>A (p.Pro988=)
c.2688T>A (p.Pro896=)
n.3263T>A
c.2856T>A (p.Pro952=)
c.2670T>A (p.Pro890=)
n.3266T>A
c.2961T>A (p.Pro987=)
c.3027T>A (p.Pro1009=)
c.2979T>A (p.Pro993=)
c.2844T>A (p.Pro948=)
c.2896-53T>A (n.2896-53T>A)
16g.28836070T>CCA494869357ATXN2Lc.3033T>C (p.Pro1011=)
c.1008T>C (p.Pro336=)
n.3407T>C
c.228T>C (p.Pro76=)
c.3051T>C (p.Pro1017=)
c.2097T>C (n.2097T>C)
c.302T>C
c.1011T>C (p.Pro337=)
c.553T>C
c.3054T>C (p.Pro1018=)
c.3036T>C (p.Pro1012=)
c.2874T>C (p.Pro958=)
c.2982T>C (p.Pro994=)
c.2964T>C (p.Pro988=)
c.2688T>C (p.Pro896=)
n.3263T>C
c.2856T>C (p.Pro952=)
c.2670T>C (p.Pro890=)
n.3266T>C
c.2961T>C (p.Pro987=)
c.3027T>C (p.Pro1009=)
c.2979T>C (p.Pro993=)
c.2844T>C (p.Pro948=)
c.2896-53T>C (n.2896-53T>C)
16g.28836070T>GCA494869358ATXN2Lc.3033T>G (p.Pro1011=)
c.1008T>G (p.Pro336=)
n.3407T>G
c.228T>G (p.Pro76=)
c.3051T>G (p.Pro1017=)
c.2097T>G (n.2097T>G)
c.302T>G
c.1011T>G (p.Pro337=)
c.553T>G
c.3054T>G (p.Pro1018=)
c.3036T>G (p.Pro1012=)
c.2874T>G (p.Pro958=)
c.2982T>G (p.Pro994=)
c.2964T>G (p.Pro988=)
c.2688T>G (p.Pro896=)
n.3263T>G
c.2856T>G (p.Pro952=)
c.2670T>G (p.Pro890=)
n.3266T>G
c.2961T>G (p.Pro987=)
c.3027T>G (p.Pro1009=)
c.2979T>G (p.Pro993=)
c.2844T>G (p.Pro948=)
c.2896-53T>G (n.2896-53T>G)
16g.28836071G>ACA7985165ATXN2Lc.3034G>A (p.Ala1012Thr)
c.1009G>A (p.Ala337Thr)
n.3408G>A
c.229G>A (p.Ala77Thr)
c.3052G>A (p.Ala1018Thr)
c.2098G>A (n.2098G>A)
c.303G>A
c.1012G>A (p.Ala338Thr)
c.554G>A
c.3055G>A (p.Ala1019Thr)
c.3037G>A (p.Ala1013Thr)
c.2875G>A (p.Ala959Thr)
c.2983G>A (p.Ala995Thr)
c.2965G>A (p.Ala989Thr)
c.2689G>A (p.Ala897Thr)
n.3264G>A
c.2857G>A (p.Ala953Thr)
c.2671G>A (p.Ala891Thr)
n.3267G>A
c.2962G>A (p.Ala988Thr)
c.3028G>A (p.Ala1010Thr)
c.2980G>A (p.Ala994Thr)
c.2845G>A (p.Ala949Thr)
c.2896-52G>A (n.2896-52G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836071G>CCA395409245ATXN2Lc.3034G>C (p.Ala1012Pro)
c.1009G>C (p.Ala337Pro)
n.3408G>C
c.229G>C (p.Ala77Pro)
c.3052G>C (p.Ala1018Pro)
c.2098G>C (n.2098G>C)
c.303G>C
c.1012G>C (p.Ala338Pro)
c.554G>C
c.3055G>C (p.Ala1019Pro)
c.3037G>C (p.Ala1013Pro)
c.2875G>C (p.Ala959Pro)
c.2983G>C (p.Ala995Pro)
c.2965G>C (p.Ala989Pro)
c.2689G>C (p.Ala897Pro)
n.3264G>C
c.2857G>C (p.Ala953Pro)
c.2671G>C (p.Ala891Pro)
n.3267G>C
c.2962G>C (p.Ala988Pro)
c.3028G>C (p.Ala1010Pro)
c.2980G>C (p.Ala994Pro)
c.2845G>C (p.Ala949Pro)
c.2896-52G>C (n.2896-52G>C)
16g.28836071G=CA2215806900ATXN2Lc.3034G= (p.Ala1012=)
c.1009G= (p.Ala337=)
n.3408G=
c.229G= (p.Ala77=)
c.3052G= (p.Ala1018=)
c.2098G= (n.2098G=)
c.303G=
c.1012G= (p.Ala338=)
c.554G=
c.3055G= (p.Ala1019=)
c.3037G= (p.Ala1013=)
c.2875G= (p.Ala959=)
c.2983G= (p.Ala995=)
c.2965G= (p.Ala989=)
c.2689G= (p.Ala897=)
n.3264G=
c.2857G= (p.Ala953=)
c.2671G= (p.Ala891=)
n.3267G=
c.2962G= (p.Ala988=)
c.3028G= (p.Ala1010=)
c.2980G= (p.Ala994=)
c.2845G= (p.Ala949=)
c.2896-52G= (n.2896-52G=)
16g.28836071G>TCA395409246ATXN2Lc.3034G>T (p.Ala1012Ser)
c.1009G>T (p.Ala337Ser)
n.3408G>T
c.229G>T (p.Ala77Ser)
c.3052G>T (p.Ala1018Ser)
c.2098G>T (n.2098G>T)
c.303G>T
c.1012G>T (p.Ala338Ser)
c.554G>T
c.3055G>T (p.Ala1019Ser)
c.3037G>T (p.Ala1013Ser)
c.2875G>T (p.Ala959Ser)
c.2983G>T (p.Ala995Ser)
c.2965G>T (p.Ala989Ser)
c.2689G>T (p.Ala897Ser)
n.3264G>T
c.2857G>T (p.Ala953Ser)
c.2671G>T (p.Ala891Ser)
n.3267G>T
c.2962G>T (p.Ala988Ser)
c.3028G>T (p.Ala1010Ser)
c.2980G>T (p.Ala994Ser)
c.2845G>T (p.Ala949Ser)
c.2896-52G>T (n.2896-52G>T)
16g.28836072C>ACA395409247ATXN2Lc.3035C>A (p.Ala1012Glu)
c.1010C>A (p.Ala337Glu)
n.3409C>A
c.230C>A (p.Ala77Glu)
c.3053C>A (p.Ala1018Glu)
c.2099C>A (n.2099C>A)
c.304C>A
c.1013C>A (p.Ala338Glu)
c.555C>A
c.3056C>A (p.Ala1019Glu)
c.3038C>A (p.Ala1013Glu)
c.2876C>A (p.Ala959Glu)
c.2984C>A (p.Ala995Glu)
c.2966C>A (p.Ala989Glu)
c.2690C>A (p.Ala897Glu)
n.3265C>A
c.2858C>A (p.Ala953Glu)
c.2672C>A (p.Ala891Glu)
n.3268C>A
c.2963C>A (p.Ala988Glu)
c.3029C>A (p.Ala1010Glu)
c.2981C>A (p.Ala994Glu)
c.2846C>A (p.Ala949Glu)
c.2896-51C>A (n.2896-51C>A)
16g.28836072C>GCA395409248ATXN2Lc.3035C>G (p.Ala1012Gly)
c.1010C>G (p.Ala337Gly)
n.3409C>G
c.230C>G (p.Ala77Gly)
c.3053C>G (p.Ala1018Gly)
c.2099C>G (n.2099C>G)
c.304C>G
c.1013C>G (p.Ala338Gly)
c.555C>G
c.3056C>G (p.Ala1019Gly)
c.3038C>G (p.Ala1013Gly)
c.2876C>G (p.Ala959Gly)
c.2984C>G (p.Ala995Gly)
c.2966C>G (p.Ala989Gly)
c.2690C>G (p.Ala897Gly)
n.3265C>G
c.2858C>G (p.Ala953Gly)
c.2672C>G (p.Ala891Gly)
n.3268C>G
c.2963C>G (p.Ala988Gly)
c.3029C>G (p.Ala1010Gly)
c.2981C>G (p.Ala994Gly)
c.2846C>G (p.Ala949Gly)
c.2896-51C>G (n.2896-51C>G)
16g.28836072C>TCA395409249ATXN2Lc.3035C>T (p.Ala1012Val)
c.1010C>T (p.Ala337Val)
n.3409C>T
c.230C>T (p.Ala77Val)
c.3053C>T (p.Ala1018Val)
c.2099C>T (n.2099C>T)
c.304C>T
c.1013C>T (p.Ala338Val)
c.555C>T
c.3056C>T (p.Ala1019Val)
c.3038C>T (p.Ala1013Val)
c.2876C>T (p.Ala959Val)
c.2984C>T (p.Ala995Val)
c.2966C>T (p.Ala989Val)
c.2690C>T (p.Ala897Val)
n.3265C>T
c.2858C>T (p.Ala953Val)
c.2672C>T (p.Ala891Val)
n.3268C>T
c.2963C>T (p.Ala988Val)
c.3029C>T (p.Ala1010Val)
c.2981C>T (p.Ala994Val)
c.2846C>T (p.Ala949Val)
c.2896-51C>T (n.2896-51C>T)
 gnomAD v4
16g.28836073A>CCA494869370ATXN2Lc.3036A>C (p.Ala1012=)
c.1011A>C (p.Ala337=)
n.3410A>C
c.231A>C (p.Ala77=)
c.3054A>C (p.Ala1018=)
c.2100A>C (n.2100A>C)
c.305A>C
c.1014A>C (p.Ala338=)
c.556A>C
c.3057A>C (p.Ala1019=)
c.3039A>C (p.Ala1013=)
c.2877A>C (p.Ala959=)
c.2985A>C (p.Ala995=)
c.2967A>C (p.Ala989=)
c.2691A>C (p.Ala897=)
n.3266A>C
c.2859A>C (p.Ala953=)
c.2673A>C (p.Ala891=)
n.3269A>C
c.2964A>C (p.Ala988=)
c.3030A>C (p.Ala1010=)
c.2982A>C (p.Ala994=)
c.2847A>C (p.Ala949=)
c.2896-50A>C (n.2896-50A>C)
16g.28836073A>GCA494869371ATXN2Lc.3036A>G (p.Ala1012=)
c.1011A>G (p.Ala337=)
n.3410A>G
c.231A>G (p.Ala77=)
c.3054A>G (p.Ala1018=)
c.2100A>G (n.2100A>G)
c.305A>G
c.1014A>G (p.Ala338=)
c.556A>G
c.3057A>G (p.Ala1019=)
c.3039A>G (p.Ala1013=)
c.2877A>G (p.Ala959=)
c.2985A>G (p.Ala995=)
c.2967A>G (p.Ala989=)
c.2691A>G (p.Ala897=)
n.3266A>G
c.2859A>G (p.Ala953=)
c.2673A>G (p.Ala891=)
n.3269A>G
c.2964A>G (p.Ala988=)
c.3030A>G (p.Ala1010=)
c.2982A>G (p.Ala994=)
c.2847A>G (p.Ala949=)
c.2896-50A>G (n.2896-50A>G)
 COSMIC COSMIC COSMIC COSMIC
16g.28836073A>TCA494869374ATXN2Lc.3036A>T (p.Ala1012=)
c.1011A>T (p.Ala337=)
n.3410A>T
c.231A>T (p.Ala77=)
c.3054A>T (p.Ala1018=)
c.2100A>T (n.2100A>T)
c.305A>T
c.1014A>T (p.Ala338=)
c.556A>T
c.3057A>T (p.Ala1019=)
c.3039A>T (p.Ala1013=)
c.2877A>T (p.Ala959=)
c.2985A>T (p.Ala995=)
c.2967A>T (p.Ala989=)
c.2691A>T (p.Ala897=)
n.3266A>T
c.2859A>T (p.Ala953=)
c.2673A>T (p.Ala891=)
n.3269A>T
c.2964A>T (p.Ala988=)
c.3030A>T (p.Ala1010=)
c.2982A>T (p.Ala994=)
c.2847A>T (p.Ala949=)
c.2896-50A>T (n.2896-50A>T)
16g.28836074C>ACA395409250ATXN2Lc.3037C>A (p.Leu1013Ile)
c.1012C>A (p.Leu338Ile)
n.3411C>A
c.232C>A (p.Leu78Ile)
c.3055C>A (p.Leu1019Ile)
c.2101C>A (n.2101C>A)
c.306C>A
c.1015C>A (p.Leu339Ile)
c.557C>A
c.3058C>A (p.Leu1020Ile)
c.3040C>A (p.Leu1014Ile)
c.2878C>A (p.Leu960Ile)
c.2986C>A (p.Leu996Ile)
c.2968C>A (p.Leu990Ile)
c.2692C>A (p.Leu898Ile)
n.3267C>A
c.2860C>A (p.Leu954Ile)
c.2674C>A (p.Leu892Ile)
n.3270C>A
c.2965C>A (p.Leu989Ile)
c.3031C>A (p.Leu1011Ile)
c.2983C>A (p.Leu995Ile)
c.2848C>A (p.Leu950Ile)
c.2896-49C>A (n.2896-49C>A)
16g.28836074C=CA2215806903ATXN2Lc.3037C= (p.Leu1013=)
c.1012C= (p.Leu338=)
n.3411C=
c.232C= (p.Leu78=)
c.3055C= (p.Leu1019=)
c.2101C= (n.2101C=)
c.306C=
c.1015C= (p.Leu339=)
c.557C=
c.3058C= (p.Leu1020=)
c.3040C= (p.Leu1014=)
c.2878C= (p.Leu960=)
c.2986C= (p.Leu996=)
c.2968C= (p.Leu990=)
c.2692C= (p.Leu898=)
n.3267C=
c.2860C= (p.Leu954=)
c.2674C= (p.Leu892=)
n.3270C=
c.2965C= (p.Leu989=)
c.3031C= (p.Leu1011=)
c.2983C= (p.Leu995=)
c.2848C= (p.Leu950=)
c.2896-49C= (n.2896-49C=)
16g.28836074C>GCA395409252ATXN2Lc.3037C>G (p.Leu1013Val)
c.1012C>G (p.Leu338Val)
n.3411C>G
c.232C>G (p.Leu78Val)
c.3055C>G (p.Leu1019Val)
c.2101C>G (n.2101C>G)
c.306C>G
c.1015C>G (p.Leu339Val)
c.557C>G
c.3058C>G (p.Leu1020Val)
c.3040C>G (p.Leu1014Val)
c.2878C>G (p.Leu960Val)
c.2986C>G (p.Leu996Val)
c.2968C>G (p.Leu990Val)
c.2692C>G (p.Leu898Val)
n.3267C>G
c.2860C>G (p.Leu954Val)
c.2674C>G (p.Leu892Val)
n.3270C>G
c.2965C>G (p.Leu989Val)
c.3031C>G (p.Leu1011Val)
c.2983C>G (p.Leu995Val)
c.2848C>G (p.Leu950Val)
c.2896-49C>G (n.2896-49C>G)
 dbSNP
16g.28836074C>TCA395409251ATXN2Lc.3037C>T (p.Leu1013Phe)
c.1012C>T (p.Leu338Phe)
n.3411C>T
c.232C>T (p.Leu78Phe)
c.3055C>T (p.Leu1019Phe)
c.2101C>T (n.2101C>T)
c.306C>T
c.1015C>T (p.Leu339Phe)
c.557C>T
c.3058C>T (p.Leu1020Phe)
c.3040C>T (p.Leu1014Phe)
c.2878C>T (p.Leu960Phe)
c.2986C>T (p.Leu996Phe)
c.2968C>T (p.Leu990Phe)
c.2692C>T (p.Leu898Phe)
n.3267C>T
c.2860C>T (p.Leu954Phe)
c.2674C>T (p.Leu892Phe)
n.3270C>T
c.2965C>T (p.Leu989Phe)
c.3031C>T (p.Leu1011Phe)
c.2983C>T (p.Leu995Phe)
c.2848C>T (p.Leu950Phe)
c.2896-49C>T (n.2896-49C>T)
16g.28836075T>ACA395409253ATXN2Lc.3038T>A (p.Leu1013His)
c.1013T>A (p.Leu338His)
n.3412T>A
c.233T>A (p.Leu78His)
c.3056T>A (p.Leu1019His)
c.2102T>A (n.2102T>A)
c.307T>A
c.1016T>A (p.Leu339His)
c.558T>A
c.3059T>A (p.Leu1020His)
c.3041T>A (p.Leu1014His)
c.2879T>A (p.Leu960His)
c.2987T>A (p.Leu996His)
c.2969T>A (p.Leu990His)
c.2693T>A (p.Leu898His)
n.3268T>A
c.2861T>A (p.Leu954His)
c.2675T>A (p.Leu892His)
n.3271T>A
c.2966T>A (p.Leu989His)
c.3032T>A (p.Leu1011His)
c.2984T>A (p.Leu995His)
c.2849T>A (p.Leu950His)
c.2896-48T>A (n.2896-48T>A)
 gnomAD v4
16g.28836075T>CCA395409254ATXN2Lc.3038T>C (p.Leu1013Pro)
c.1013T>C (p.Leu338Pro)
n.3412T>C
c.233T>C (p.Leu78Pro)
c.3056T>C (p.Leu1019Pro)
c.2102T>C (n.2102T>C)
c.307T>C
c.1016T>C (p.Leu339Pro)
c.558T>C
c.3059T>C (p.Leu1020Pro)
c.3041T>C (p.Leu1014Pro)
c.2879T>C (p.Leu960Pro)
c.2987T>C (p.Leu996Pro)
c.2969T>C (p.Leu990Pro)
c.2693T>C (p.Leu898Pro)
n.3268T>C
c.2861T>C (p.Leu954Pro)
c.2675T>C (p.Leu892Pro)
n.3271T>C
c.2966T>C (p.Leu989Pro)
c.3032T>C (p.Leu1011Pro)
c.2984T>C (p.Leu995Pro)
c.2849T>C (p.Leu950Pro)
c.2896-48T>C (n.2896-48T>C)
16g.28836075T>GCA395409255ATXN2Lc.3038T>G (p.Leu1013Arg)
c.1013T>G (p.Leu338Arg)
n.3412T>G
c.233T>G (p.Leu78Arg)
c.3056T>G (p.Leu1019Arg)
c.2102T>G (n.2102T>G)
c.307T>G
c.1016T>G (p.Leu339Arg)
c.558T>G
c.3059T>G (p.Leu1020Arg)
c.3041T>G (p.Leu1014Arg)
c.2879T>G (p.Leu960Arg)
c.2987T>G (p.Leu996Arg)
c.2969T>G (p.Leu990Arg)
c.2693T>G (p.Leu898Arg)
n.3268T>G
c.2861T>G (p.Leu954Arg)
c.2675T>G (p.Leu892Arg)
n.3271T>G
c.2966T>G (p.Leu989Arg)
c.3032T>G (p.Leu1011Arg)
c.2984T>G (p.Leu995Arg)
c.2849T>G (p.Leu950Arg)
c.2896-48T>G (n.2896-48T>G)
16g.28836076C>ACA494869380ATXN2Lc.3039C>A (p.Leu1013=)
c.1014C>A (p.Leu338=)
n.3413C>A
c.234C>A (p.Leu78=)
c.3057C>A (p.Leu1019=)
c.2103C>A (n.2103C>A)
c.308C>A
c.1017C>A (p.Leu339=)
c.559C>A
c.3060C>A (p.Leu1020=)
c.3042C>A (p.Leu1014=)
c.2880C>A (p.Leu960=)
c.2988C>A (p.Leu996=)
c.2970C>A (p.Leu990=)
c.2694C>A (p.Leu898=)
n.3269C>A
c.2862C>A (p.Leu954=)
c.2676C>A (p.Leu892=)
n.3272C>A
c.2967C>A (p.Leu989=)
c.3033C>A (p.Leu1011=)
c.2985C>A (p.Leu995=)
c.2850C>A (p.Leu950=)
c.2896-47C>A (n.2896-47C>A)
16g.28836076C=CA2215806907ATXN2Lc.3039C= (p.Leu1013=)
c.1014C= (p.Leu338=)
n.3413C=
c.234C= (p.Leu78=)
c.3057C= (p.Leu1019=)
c.2103C= (n.2103C=)
c.308C=
c.1017C= (p.Leu339=)
c.559C=
c.3060C= (p.Leu1020=)
c.3042C= (p.Leu1014=)
c.2880C= (p.Leu960=)
c.2988C= (p.Leu996=)
c.2970C= (p.Leu990=)
c.2694C= (p.Leu898=)
n.3269C=
c.2862C= (p.Leu954=)
c.2676C= (p.Leu892=)
n.3272C=
c.2967C= (p.Leu989=)
c.3033C= (p.Leu1011=)
c.2985C= (p.Leu995=)
c.2850C= (p.Leu950=)
c.2896-47C= (n.2896-47C=)
16g.28836076C>GCA494869382ATXN2Lc.3039C>G (p.Leu1013=)
c.1014C>G (p.Leu338=)
n.3413C>G
c.234C>G (p.Leu78=)
c.3057C>G (p.Leu1019=)
c.2103C>G (n.2103C>G)
c.308C>G
c.1017C>G (p.Leu339=)
c.559C>G
c.3060C>G (p.Leu1020=)
c.3042C>G (p.Leu1014=)
c.2880C>G (p.Leu960=)
c.2988C>G (p.Leu996=)
c.2970C>G (p.Leu990=)
c.2694C>G (p.Leu898=)
n.3269C>G
c.2862C>G (p.Leu954=)
c.2676C>G (p.Leu892=)
n.3272C>G
c.2967C>G (p.Leu989=)
c.3033C>G (p.Leu1011=)
c.2985C>G (p.Leu995=)
c.2850C>G (p.Leu950=)
c.2896-47C>G (n.2896-47C>G)
 gnomAD v4 COSMIC COSMIC
16g.28836076C>TCA7985166ATXN2Lc.3039C>T (p.Leu1013=)
c.1014C>T (p.Leu338=)
n.3413C>T
c.234C>T (p.Leu78=)
c.3057C>T (p.Leu1019=)
c.2103C>T (n.2103C>T)
c.308C>T
c.1017C>T (p.Leu339=)
c.559C>T
c.3060C>T (p.Leu1020=)
c.3042C>T (p.Leu1014=)
c.2880C>T (p.Leu960=)
c.2988C>T (p.Leu996=)
c.2970C>T (p.Leu990=)
c.2694C>T (p.Leu898=)
n.3269C>T
c.2862C>T (p.Leu954=)
c.2676C>T (p.Leu892=)
n.3272C>T
c.2967C>T (p.Leu989=)
c.3033C>T (p.Leu1011=)
c.2985C>T (p.Leu995=)
c.2850C>T (p.Leu950=)
c.2896-47C>T (n.2896-47C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836077T>ACA395409258ATXN2Lc.3040T>A (p.Ser1014Thr)
c.1015T>A (p.Ser339Thr)
n.3414T>A
c.235T>A (p.Ser79Thr)
c.3058T>A (p.Ser1020Thr)
c.2104T>A (n.2104T>A)
c.309T>A
c.1018T>A (p.Ser340Thr)
c.3061T>A (p.Ser1021Thr)
c.3043T>A (p.Ser1015Thr)
c.2881T>A (p.Ser961Thr)
c.2989T>A (p.Ser997Thr)
c.2971T>A (p.Ser991Thr)
c.2695T>A (p.Ser899Thr)
n.3270T>A
c.2863T>A (p.Ser955Thr)
c.2677T>A (p.Ser893Thr)
n.3273T>A
c.2968T>A (p.Ser990Thr)
c.3034T>A (p.Ser1012Thr)
c.2986T>A (p.Ser996Thr)
c.2851T>A (p.Ser951Thr)
c.2896-46T>A (n.2896-46T>A)
16g.28836077T>CCA395409257ATXN2Lc.3040T>C (p.Ser1014Pro)
c.1015T>C (p.Ser339Pro)
n.3414T>C
c.235T>C (p.Ser79Pro)
c.3058T>C (p.Ser1020Pro)
c.2104T>C (n.2104T>C)
c.309T>C
c.1018T>C (p.Ser340Pro)
c.3061T>C (p.Ser1021Pro)
c.3043T>C (p.Ser1015Pro)
c.2881T>C (p.Ser961Pro)
c.2989T>C (p.Ser997Pro)
c.2971T>C (p.Ser991Pro)
c.2695T>C (p.Ser899Pro)
n.3270T>C
c.2863T>C (p.Ser955Pro)
c.2677T>C (p.Ser893Pro)
n.3273T>C
c.2968T>C (p.Ser990Pro)
c.3034T>C (p.Ser1012Pro)
c.2986T>C (p.Ser996Pro)
c.2851T>C (p.Ser951Pro)
c.2896-46T>C (n.2896-46T>C)
16g.28836077T>GCA395409256ATXN2Lc.3040T>G (p.Ser1014Ala)
c.1015T>G (p.Ser339Ala)
n.3414T>G
c.235T>G (p.Ser79Ala)
c.3058T>G (p.Ser1020Ala)
c.2104T>G (n.2104T>G)
c.309T>G
c.1018T>G (p.Ser340Ala)
c.3061T>G (p.Ser1021Ala)
c.3043T>G (p.Ser1015Ala)
c.2881T>G (p.Ser961Ala)
c.2989T>G (p.Ser997Ala)
c.2971T>G (p.Ser991Ala)
c.2695T>G (p.Ser899Ala)
n.3270T>G
c.2863T>G (p.Ser955Ala)
c.2677T>G (p.Ser893Ala)
n.3273T>G
c.2968T>G (p.Ser990Ala)
c.3034T>G (p.Ser1012Ala)
c.2986T>G (p.Ser996Ala)
c.2851T>G (p.Ser951Ala)
c.2896-46T>G (n.2896-46T>G)
16g.28836078C>ACA395409259ATXN2Lc.3041C>A (p.Ser1014Ter)
c.1016C>A (p.Ser339Ter)
n.3415C>A
c.236C>A (p.Ser79Ter)
c.3059C>A (p.Ser1020Ter)
c.2105C>A (n.2105C>A)
c.310C>A
c.1019C>A (p.Ser340Ter)
c.3062C>A (p.Ser1021Ter)
c.3044C>A (p.Ser1015Ter)
c.2882C>A (p.Ser961Ter)
c.2990C>A (p.Ser997Ter)
c.2972C>A (p.Ser991Ter)
c.2696C>A (p.Ser899Ter)
n.3271C>A
c.2864C>A (p.Ser955Ter)
c.2678C>A (p.Ser893Ter)
n.3274C>A
c.2969C>A (p.Ser990Ter)
c.3035C>A (p.Ser1012Ter)
c.2987C>A (p.Ser996Ter)
c.2852C>A (p.Ser951Ter)
c.2896-45C>A (n.2896-45C>A)
16g.28836078C=CA2215806910ATXN2Lc.3041C= (p.Ser1014=)
c.1016C= (p.Ser339=)
n.3415C=
c.236C= (p.Ser79=)
c.3059C= (p.Ser1020=)
c.2105C= (n.2105C=)
c.310C=
c.1019C= (p.Ser340=)
c.3062C= (p.Ser1021=)
c.3044C= (p.Ser1015=)
c.2882C= (p.Ser961=)
c.2990C= (p.Ser997=)
c.2972C= (p.Ser991=)
c.2696C= (p.Ser899=)
n.3271C=
c.2864C= (p.Ser955=)
c.2678C= (p.Ser893=)
n.3274C=
c.2969C= (p.Ser990=)
c.3035C= (p.Ser1012=)
c.2987C= (p.Ser996=)
c.2852C= (p.Ser951=)
c.2896-45C= (n.2896-45C=)
16g.28836078C>GCA395409261ATXN2Lc.3041C>G (p.Ser1014Ter)
c.1016C>G (p.Ser339Ter)
n.3415C>G
c.236C>G (p.Ser79Ter)
c.3059C>G (p.Ser1020Ter)
c.2105C>G (n.2105C>G)
c.310C>G
c.1019C>G (p.Ser340Ter)
c.3062C>G (p.Ser1021Ter)
c.3044C>G (p.Ser1015Ter)
c.2882C>G (p.Ser961Ter)
c.2990C>G (p.Ser997Ter)
c.2972C>G (p.Ser991Ter)
c.2696C>G (p.Ser899Ter)
n.3271C>G
c.2864C>G (p.Ser955Ter)
c.2678C>G (p.Ser893Ter)
n.3274C>G
c.2969C>G (p.Ser990Ter)
c.3035C>G (p.Ser1012Ter)
c.2987C>G (p.Ser996Ter)
c.2852C>G (p.Ser951Ter)
c.2896-45C>G (n.2896-45C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28836078C>TCA395409260ATXN2Lc.3041C>T (p.Ser1014Leu)
c.1016C>T (p.Ser339Leu)
n.3415C>T
c.236C>T (p.Ser79Leu)
c.3059C>T (p.Ser1020Leu)
c.2105C>T (n.2105C>T)
c.310C>T
c.1019C>T (p.Ser340Leu)
c.3062C>T (p.Ser1021Leu)
c.3044C>T (p.Ser1015Leu)
c.2882C>T (p.Ser961Leu)
c.2990C>T (p.Ser997Leu)
c.2972C>T (p.Ser991Leu)
c.2696C>T (p.Ser899Leu)
n.3271C>T
c.2864C>T (p.Ser955Leu)
c.2678C>T (p.Ser893Leu)
n.3274C>T
c.2969C>T (p.Ser990Leu)
c.3035C>T (p.Ser1012Leu)
c.2987C>T (p.Ser996Leu)
c.2852C>T (p.Ser951Leu)
c.2896-45C>T (n.2896-45C>T)
 gnomAD v4
16g.28836079A>CCA494869394ATXN2Lc.3042A>C (p.Ser1014=)
c.1017A>C (p.Ser339=)
n.3416A>C
c.237A>C (p.Ser79=)
c.3060A>C (p.Ser1020=)
c.2106A>C (n.2106A>C)
c.311A>C
c.1020A>C (p.Ser340=)
c.3063A>C (p.Ser1021=)
c.3045A>C (p.Ser1015=)
c.2883A>C (p.Ser961=)
c.2991A>C (p.Ser997=)
c.2973A>C (p.Ser991=)
c.2697A>C (p.Ser899=)
n.3272A>C
c.2865A>C (p.Ser955=)
c.2679A>C (p.Ser893=)
n.3275A>C
c.2970A>C (p.Ser990=)
c.3036A>C (p.Ser1012=)
c.2988A>C (p.Ser996=)
c.2853A>C (p.Ser951=)
c.2896-44A>C (n.2896-44A>C)
16g.28836079A>GCA494869395ATXN2Lc.3042A>G (p.Ser1014=)
c.1017A>G (p.Ser339=)
n.3416A>G
c.237A>G (p.Ser79=)
c.3060A>G (p.Ser1020=)
c.2106A>G (n.2106A>G)
c.311A>G
c.1020A>G (p.Ser340=)
c.3063A>G (p.Ser1021=)
c.3045A>G (p.Ser1015=)
c.2883A>G (p.Ser961=)
c.2991A>G (p.Ser997=)
c.2973A>G (p.Ser991=)
c.2697A>G (p.Ser899=)
n.3272A>G
c.2865A>G (p.Ser955=)
c.2679A>G (p.Ser893=)
n.3275A>G
c.2970A>G (p.Ser990=)
c.3036A>G (p.Ser1012=)
c.2988A>G (p.Ser996=)
c.2853A>G (p.Ser951=)
c.2896-44A>G (n.2896-44A>G)
16g.28836079A>TCA494869398ATXN2Lc.3042A>T (p.Ser1014=)
c.1017A>T (p.Ser339=)
n.3416A>T
c.237A>T (p.Ser79=)
c.3060A>T (p.Ser1020=)
c.2106A>T (n.2106A>T)
c.311A>T
c.1020A>T (p.Ser340=)
c.3063A>T (p.Ser1021=)
c.3045A>T (p.Ser1015=)
c.2883A>T (p.Ser961=)
c.2991A>T (p.Ser997=)
c.2973A>T (p.Ser991=)
c.2697A>T (p.Ser899=)
n.3272A>T
c.2865A>T (p.Ser955=)
c.2679A>T (p.Ser893=)
n.3275A>T
c.2970A>T (p.Ser990=)
c.3036A>T (p.Ser1012=)
c.2988A>T (p.Ser996=)
c.2853A>T (p.Ser951=)
c.2896-44A>T (n.2896-44A>T)
16g.28836080G>ACA395409262ATXN2Lc.3043G>A (p.Ala1015Thr)
c.1018G>A (p.Ala340Thr)
n.3417G>A
c.238G>A (p.Ala80Thr)
c.3061G>A (p.Ala1021Thr)
c.2107G>A (n.2107G>A)
c.312G>A
c.1021G>A (p.Ala341Thr)
c.3064G>A (p.Ala1022Thr)
c.3046G>A (p.Ala1016Thr)
c.2884G>A (p.Ala962Thr)
c.2992G>A (p.Ala998Thr)
c.2974G>A (p.Ala992Thr)
c.2698G>A (p.Ala900Thr)
n.3273G>A
c.2866G>A (p.Ala956Thr)
c.2680G>A (p.Ala894Thr)
n.3276G>A
c.2971G>A (p.Ala991Thr)
c.3037G>A (p.Ala1013Thr)
c.2989G>A (p.Ala997Thr)
c.2854G>A (p.Ala952Thr)
c.2896-43G>A (n.2896-43G>A)
 gnomAD v4
16g.28836080G>CCA395409263ATXN2Lc.3043G>C (p.Ala1015Pro)
c.1018G>C (p.Ala340Pro)
n.3417G>C
c.238G>C (p.Ala80Pro)
c.3061G>C (p.Ala1021Pro)
c.2107G>C (n.2107G>C)
c.312G>C
c.1021G>C (p.Ala341Pro)
c.3064G>C (p.Ala1022Pro)
c.3046G>C (p.Ala1016Pro)
c.2884G>C (p.Ala962Pro)
c.2992G>C (p.Ala998Pro)
c.2974G>C (p.Ala992Pro)
c.2698G>C (p.Ala900Pro)
n.3273G>C
c.2866G>C (p.Ala956Pro)
c.2680G>C (p.Ala894Pro)
n.3276G>C
c.2971G>C (p.Ala991Pro)
c.3037G>C (p.Ala1013Pro)
c.2989G>C (p.Ala997Pro)
c.2854G>C (p.Ala952Pro)
c.2896-43G>C (n.2896-43G>C)
16g.28836080G>TCA395409264ATXN2Lc.3043G>T (p.Ala1015Ser)
c.1018G>T (p.Ala340Ser)
n.3417G>T
c.238G>T (p.Ala80Ser)
c.3061G>T (p.Ala1021Ser)
c.2107G>T (n.2107G>T)
c.312G>T
c.1021G>T (p.Ala341Ser)
c.3064G>T (p.Ala1022Ser)
c.3046G>T (p.Ala1016Ser)
c.2884G>T (p.Ala962Ser)
c.2992G>T (p.Ala998Ser)
c.2974G>T (p.Ala992Ser)
c.2698G>T (p.Ala900Ser)
n.3273G>T
c.2866G>T (p.Ala956Ser)
c.2680G>T (p.Ala894Ser)
n.3276G>T
c.2971G>T (p.Ala991Ser)
c.3037G>T (p.Ala1013Ser)
c.2989G>T (p.Ala997Ser)
c.2854G>T (p.Ala952Ser)
c.2896-43G>T (n.2896-43G>T)
16g.28836081C>ACA395409265ATXN2Lc.3044C>A (p.Ala1015Asp)
c.1019C>A (p.Ala340Asp)
n.3418C>A
c.239C>A (p.Ala80Asp)
c.3062C>A (p.Ala1021Asp)
c.2108C>A (n.2108C>A)
c.313C>A
c.1022C>A (p.Ala341Asp)
c.3065C>A (p.Ala1022Asp)
c.3047C>A (p.Ala1016Asp)
c.2885C>A (p.Ala962Asp)
c.2993C>A (p.Ala998Asp)
c.2975C>A (p.Ala992Asp)
c.2699C>A (p.Ala900Asp)
n.3274C>A
c.2867C>A (p.Ala956Asp)
c.2681C>A (p.Ala894Asp)
n.3277C>A
c.2972C>A (p.Ala991Asp)
c.3038C>A (p.Ala1013Asp)
c.2990C>A (p.Ala997Asp)
c.2855C>A (p.Ala952Asp)
c.2896-42C>A (n.2896-42C>A)
16g.28836081C=CA2215806913ATXN2Lc.3044C= (p.Ala1015=)
c.1019C= (p.Ala340=)
n.3418C=
c.239C= (p.Ala80=)
c.3062C= (p.Ala1021=)
c.2108C= (n.2108C=)
c.313C=
c.1022C= (p.Ala341=)
c.3065C= (p.Ala1022=)
c.3047C= (p.Ala1016=)
c.2885C= (p.Ala962=)
c.2993C= (p.Ala998=)
c.2975C= (p.Ala992=)
c.2699C= (p.Ala900=)
n.3274C=
c.2867C= (p.Ala956=)
c.2681C= (p.Ala894=)
n.3277C=
c.2972C= (p.Ala991=)
c.3038C= (p.Ala1013=)
c.2990C= (p.Ala997=)
c.2855C= (p.Ala952=)
c.2896-42C= (n.2896-42C=)
16g.28836081C>GCA395409266ATXN2Lc.3044C>G (p.Ala1015Gly)
c.1019C>G (p.Ala340Gly)
n.3418C>G
c.239C>G (p.Ala80Gly)
c.3062C>G (p.Ala1021Gly)
c.2108C>G (n.2108C>G)
c.313C>G
c.1022C>G (p.Ala341Gly)
c.3065C>G (p.Ala1022Gly)
c.3047C>G (p.Ala1016Gly)
c.2885C>G (p.Ala962Gly)
c.2993C>G (p.Ala998Gly)
c.2975C>G (p.Ala992Gly)
c.2699C>G (p.Ala900Gly)
n.3274C>G
c.2867C>G (p.Ala956Gly)
c.2681C>G (p.Ala894Gly)
n.3277C>G
c.2972C>G (p.Ala991Gly)
c.3038C>G (p.Ala1013Gly)
c.2990C>G (p.Ala997Gly)
c.2855C>G (p.Ala952Gly)
c.2896-42C>G (n.2896-42C>G)
16g.28836081C>TCA7985167ATXN2Lc.3044C>T (p.Ala1015Val)
c.1019C>T (p.Ala340Val)
n.3418C>T
c.239C>T (p.Ala80Val)
c.3062C>T (p.Ala1021Val)
c.2108C>T (n.2108C>T)
c.313C>T
c.1022C>T (p.Ala341Val)
c.3065C>T (p.Ala1022Val)
c.3047C>T (p.Ala1016Val)
c.2885C>T (p.Ala962Val)
c.2993C>T (p.Ala998Val)
c.2975C>T (p.Ala992Val)
c.2699C>T (p.Ala900Val)
n.3274C>T
c.2867C>T (p.Ala956Val)
c.2681C>T (p.Ala894Val)
n.3277C>T
c.2972C>T (p.Ala991Val)
c.3038C>T (p.Ala1013Val)
c.2990C>T (p.Ala997Val)
c.2855C>T (p.Ala952Val)
c.2896-42C>T (n.2896-42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836082T>ACA494869411ATXN2Lc.3045T>A (p.Ala1015=)
c.1020T>A (p.Ala340=)
n.3419T>A
c.240T>A (p.Ala80=)
c.3063T>A (p.Ala1021=)
c.2109T>A (n.2109T>A)
c.314T>A
c.1023T>A (p.Ala341=)
c.3066T>A (p.Ala1022=)
c.3048T>A (p.Ala1016=)
c.2886T>A (p.Ala962=)
c.2994T>A (p.Ala998=)
c.2976T>A (p.Ala992=)
c.2700T>A (p.Ala900=)
n.3275T>A
c.2868T>A (p.Ala956=)
c.2682T>A (p.Ala894=)
n.3278T>A
c.2973T>A (p.Ala991=)
c.3039T>A (p.Ala1013=)
c.2991T>A (p.Ala997=)
c.2856T>A (p.Ala952=)
c.2896-41T>A (n.2896-41T>A)
16g.28836082T>CCA494869407ATXN2Lc.3045T>C (p.Ala1015=)
c.1020T>C (p.Ala340=)
n.3419T>C
c.240T>C (p.Ala80=)
c.3063T>C (p.Ala1021=)
c.2109T>C (n.2109T>C)
c.314T>C
c.1023T>C (p.Ala341=)
c.3066T>C (p.Ala1022=)
c.3048T>C (p.Ala1016=)
c.2886T>C (p.Ala962=)
c.2994T>C (p.Ala998=)
c.2976T>C (p.Ala992=)
c.2700T>C (p.Ala900=)
n.3275T>C
c.2868T>C (p.Ala956=)
c.2682T>C (p.Ala894=)
n.3278T>C
c.2973T>C (p.Ala991=)
c.3039T>C (p.Ala1013=)
c.2991T>C (p.Ala997=)
c.2856T>C (p.Ala952=)
c.2896-41T>C (n.2896-41T>C)
16g.28836082T>GCA494869406ATXN2Lc.3045T>G (p.Ala1015=)
c.1020T>G (p.Ala340=)
n.3419T>G
c.240T>G (p.Ala80=)
c.3063T>G (p.Ala1021=)
c.2109T>G (n.2109T>G)
c.314T>G
c.1023T>G (p.Ala341=)
c.3066T>G (p.Ala1022=)
c.3048T>G (p.Ala1016=)
c.2886T>G (p.Ala962=)
c.2994T>G (p.Ala998=)
c.2976T>G (p.Ala992=)
c.2700T>G (p.Ala900=)
n.3275T>G
c.2868T>G (p.Ala956=)
c.2682T>G (p.Ala894=)
n.3278T>G
c.2973T>G (p.Ala991=)
c.3039T>G (p.Ala1013=)
c.2991T>G (p.Ala997=)
c.2856T>G (p.Ala952=)
c.2896-41T>G (n.2896-41T>G)
16g.28836083T>ACA395409269ATXN2Lc.3046T>A (p.Ser1016Thr)
c.1021T>A (p.Ser341Thr)
n.3420T>A
c.241T>A (p.Ser81Thr)
c.3064T>A (p.Ser1022Thr)
c.2110T>A (n.2110T>A)
c.315T>A
c.1024T>A (p.Ser342Thr)
c.3067T>A (p.Ser1023Thr)
c.3049T>A (p.Ser1017Thr)
c.2887T>A (p.Ser963Thr)
c.2995T>A (p.Ser999Thr)
c.2977T>A (p.Ser993Thr)
c.2701T>A (p.Ser901Thr)
n.3276T>A
c.2869T>A (p.Ser957Thr)
c.2683T>A (p.Ser895Thr)
n.3279T>A
c.2974T>A (p.Ser992Thr)
c.3040T>A (p.Ser1014Thr)
c.2992T>A (p.Ser998Thr)
c.2857T>A (p.Ser953Thr)
c.2896-40T>A (n.2896-40T>A)
16g.28836083T>CCA395409268ATXN2Lc.3046T>C (p.Ser1016Pro)
c.1021T>C (p.Ser341Pro)
n.3420T>C
c.241T>C (p.Ser81Pro)
c.3064T>C (p.Ser1022Pro)
c.2110T>C (n.2110T>C)
c.315T>C
c.1024T>C (p.Ser342Pro)
c.3067T>C (p.Ser1023Pro)
c.3049T>C (p.Ser1017Pro)
c.2887T>C (p.Ser963Pro)
c.2995T>C (p.Ser999Pro)
c.2977T>C (p.Ser993Pro)
c.2701T>C (p.Ser901Pro)
n.3276T>C
c.2869T>C (p.Ser957Pro)
c.2683T>C (p.Ser895Pro)
n.3279T>C
c.2974T>C (p.Ser992Pro)
c.3040T>C (p.Ser1014Pro)
c.2992T>C (p.Ser998Pro)
c.2857T>C (p.Ser953Pro)
c.2896-40T>C (n.2896-40T>C)
16g.28836083T>GCA395409267ATXN2Lc.3046T>G (p.Ser1016Ala)
c.1021T>G (p.Ser341Ala)
n.3420T>G
c.241T>G (p.Ser81Ala)
c.3064T>G (p.Ser1022Ala)
c.2110T>G (n.2110T>G)
c.315T>G
c.1024T>G (p.Ser342Ala)
c.3067T>G (p.Ser1023Ala)
c.3049T>G (p.Ser1017Ala)
c.2887T>G (p.Ser963Ala)
c.2995T>G (p.Ser999Ala)
c.2977T>G (p.Ser993Ala)
c.2701T>G (p.Ser901Ala)
n.3276T>G
c.2869T>G (p.Ser957Ala)
c.2683T>G (p.Ser895Ala)
n.3279T>G
c.2974T>G (p.Ser992Ala)
c.3040T>G (p.Ser1014Ala)
c.2992T>G (p.Ser998Ala)
c.2857T>G (p.Ser953Ala)
c.2896-40T>G (n.2896-40T>G)
16g.28836084C>ACA395409270ATXN2Lc.3047C>A (p.Ser1016Tyr)
c.1022C>A (p.Ser341Tyr)
n.3421C>A
c.242C>A (p.Ser81Tyr)
c.3065C>A (p.Ser1022Tyr)
c.2111C>A (n.2111C>A)
c.316C>A
c.1025C>A (p.Ser342Tyr)
c.3068C>A (p.Ser1023Tyr)
c.3050C>A (p.Ser1017Tyr)
c.2888C>A (p.Ser963Tyr)
c.2996C>A (p.Ser999Tyr)
c.2978C>A (p.Ser993Tyr)
c.2702C>A (p.Ser901Tyr)
n.3277C>A
c.2870C>A (p.Ser957Tyr)
c.2684C>A (p.Ser895Tyr)
n.3280C>A
c.2975C>A (p.Ser992Tyr)
c.3041C>A (p.Ser1014Tyr)
c.2993C>A (p.Ser998Tyr)
c.2858C>A (p.Ser953Tyr)
c.2896-39C>A (n.2896-39C>A)
16g.28836084C=CA2215806916ATXN2Lc.3047C= (p.Ser1016=)
c.1022C= (p.Ser341=)
n.3421C=
c.242C= (p.Ser81=)
c.3065C= (p.Ser1022=)
c.2111C= (n.2111C=)
c.316C=
c.1025C= (p.Ser342=)
c.3068C= (p.Ser1023=)
c.3050C= (p.Ser1017=)
c.2888C= (p.Ser963=)
c.2996C= (p.Ser999=)
c.2978C= (p.Ser993=)
c.2702C= (p.Ser901=)
n.3277C=
c.2870C= (p.Ser957=)
c.2684C= (p.Ser895=)
n.3280C=
c.2975C= (p.Ser992=)
c.3041C= (p.Ser1014=)
c.2993C= (p.Ser998=)
c.2858C= (p.Ser953=)
c.2896-39C= (n.2896-39C=)
16g.28836084C>GCA395409271ATXN2Lc.3047C>G (p.Ser1016Cys)
c.1022C>G (p.Ser341Cys)
n.3421C>G
c.242C>G (p.Ser81Cys)
c.3065C>G (p.Ser1022Cys)
c.2111C>G (n.2111C>G)
c.316C>G
c.1025C>G (p.Ser342Cys)
c.3068C>G (p.Ser1023Cys)
c.3050C>G (p.Ser1017Cys)
c.2888C>G (p.Ser963Cys)
c.2996C>G (p.Ser999Cys)
c.2978C>G (p.Ser993Cys)
c.2702C>G (p.Ser901Cys)
n.3277C>G
c.2870C>G (p.Ser957Cys)
c.2684C>G (p.Ser895Cys)
n.3280C>G
c.2975C>G (p.Ser992Cys)
c.3041C>G (p.Ser1014Cys)
c.2993C>G (p.Ser998Cys)
c.2858C>G (p.Ser953Cys)
c.2896-39C>G (n.2896-39C>G)
16g.28836084C>TCA279230922ATXN2Lc.3047C>T (p.Ser1016Phe)
c.1022C>T (p.Ser341Phe)
n.3421C>T
c.242C>T (p.Ser81Phe)
c.3065C>T (p.Ser1022Phe)
c.2111C>T (n.2111C>T)
c.316C>T
c.1025C>T (p.Ser342Phe)
c.3068C>T (p.Ser1023Phe)
c.3050C>T (p.Ser1017Phe)
c.2888C>T (p.Ser963Phe)
c.2996C>T (p.Ser999Phe)
c.2978C>T (p.Ser993Phe)
c.2702C>T (p.Ser901Phe)
n.3277C>T
c.2870C>T (p.Ser957Phe)
c.2684C>T (p.Ser895Phe)
n.3280C>T
c.2975C>T (p.Ser992Phe)
c.3041C>T (p.Ser1014Phe)
c.2993C>T (p.Ser998Phe)
c.2858C>T (p.Ser953Phe)
c.2896-39C>T (n.2896-39C>T)
 dbSNP
16g.28836085C>ACA494869427ATXN2Lc.3048C>A (p.Ser1016=)
c.1023C>A (p.Ser341=)
n.3422C>A
c.243C>A (p.Ser81=)
c.3066C>A (p.Ser1022=)
c.2112C>A (n.2112C>A)
c.317C>A
c.1026C>A (p.Ser342=)
c.3069C>A (p.Ser1023=)
c.3051C>A (p.Ser1017=)
c.2889C>A (p.Ser963=)
c.2997C>A (p.Ser999=)
c.2979C>A (p.Ser993=)
c.2703C>A (p.Ser901=)
n.3278C>A
c.2871C>A (p.Ser957=)
c.2685C>A (p.Ser895=)
n.3281C>A
c.2976C>A (p.Ser992=)
c.3042C>A (p.Ser1014=)
c.2994C>A (p.Ser998=)
c.2859C>A (p.Ser953=)
c.2896-38C>A (n.2896-38C>A)
16g.28836085C>GCA494869426ATXN2Lc.3048C>G (p.Ser1016=)
c.1023C>G (p.Ser341=)
n.3422C>G
c.243C>G (p.Ser81=)
c.3066C>G (p.Ser1022=)
c.2112C>G (n.2112C>G)
c.317C>G
c.1026C>G (p.Ser342=)
c.3069C>G (p.Ser1023=)
c.3051C>G (p.Ser1017=)
c.2889C>G (p.Ser963=)
c.2997C>G (p.Ser999=)
c.2979C>G (p.Ser993=)
c.2703C>G (p.Ser901=)
n.3278C>G
c.2871C>G (p.Ser957=)
c.2685C>G (p.Ser895=)
n.3281C>G
c.2976C>G (p.Ser992=)
c.3042C>G (p.Ser1014=)
c.2994C>G (p.Ser998=)
c.2859C>G (p.Ser953=)
c.2896-38C>G (n.2896-38C>G)
16g.28836085C>TCA494869424ATXN2Lc.3048C>T (p.Ser1016=)
c.1023C>T (p.Ser341=)
n.3422C>T
c.243C>T (p.Ser81=)
c.3066C>T (p.Ser1022=)
c.2112C>T (n.2112C>T)
c.317C>T
c.1026C>T (p.Ser342=)
c.3069C>T (p.Ser1023=)
c.3051C>T (p.Ser1017=)
c.2889C>T (p.Ser963=)
c.2997C>T (p.Ser999=)
c.2979C>T (p.Ser993=)
c.2703C>T (p.Ser901=)
n.3278C>T
c.2871C>T (p.Ser957=)
c.2685C>T (p.Ser895=)
n.3281C>T
c.2976C>T (p.Ser992=)
c.3042C>T (p.Ser1014=)
c.2994C>T (p.Ser998=)
c.2859C>T (p.Ser953=)
c.2896-38C>T (n.2896-38C>T)
16g.28836086A>CCA395409272ATXN2Lc.3049A>C (p.Thr1017Pro)
c.1024A>C (p.Thr342Pro)
n.3423A>C
c.244A>C (p.Thr82Pro)
c.3067A>C (p.Thr1023Pro)
c.2113A>C (n.2113A>C)
c.318A>C
c.1027A>C (p.Thr343Pro)
c.3070A>C (p.Thr1024Pro)
c.3052A>C (p.Thr1018Pro)
c.2890A>C (p.Thr964Pro)
c.2998A>C (p.Thr1000Pro)
c.2980A>C (p.Thr994Pro)
c.2704A>C (p.Thr902Pro)
n.3279A>C
c.2872A>C (p.Thr958Pro)
c.2686A>C (p.Thr896Pro)
n.3282A>C
c.2977A>C (p.Thr993Pro)
c.3043A>C (p.Thr1015Pro)
c.2995A>C (p.Thr999Pro)
c.2860A>C (p.Thr954Pro)
c.2896-37A>C (n.2896-37A>C)
16g.28836086A>GCA395409273ATXN2Lc.3049A>G (p.Thr1017Ala)
c.1024A>G (p.Thr342Ala)
n.3423A>G
c.244A>G (p.Thr82Ala)
c.3067A>G (p.Thr1023Ala)
c.2113A>G (n.2113A>G)
c.318A>G
c.1027A>G (p.Thr343Ala)
c.3070A>G (p.Thr1024Ala)
c.3052A>G (p.Thr1018Ala)
c.2890A>G (p.Thr964Ala)
c.2998A>G (p.Thr1000Ala)
c.2980A>G (p.Thr994Ala)
c.2704A>G (p.Thr902Ala)
n.3279A>G
c.2872A>G (p.Thr958Ala)
c.2686A>G (p.Thr896Ala)
n.3282A>G
c.2977A>G (p.Thr993Ala)
c.3043A>G (p.Thr1015Ala)
c.2995A>G (p.Thr999Ala)
c.2860A>G (p.Thr954Ala)
c.2896-37A>G (n.2896-37A>G)
 gnomAD v4
16g.28836086A>TCA395409274ATXN2Lc.3049A>T (p.Thr1017Ser)
c.1024A>T (p.Thr342Ser)
n.3423A>T
c.244A>T (p.Thr82Ser)
c.3067A>T (p.Thr1023Ser)
c.2113A>T (n.2113A>T)
c.318A>T
c.1027A>T (p.Thr343Ser)
c.3070A>T (p.Thr1024Ser)
c.3052A>T (p.Thr1018Ser)
c.2890A>T (p.Thr964Ser)
c.2998A>T (p.Thr1000Ser)
c.2980A>T (p.Thr994Ser)
c.2704A>T (p.Thr902Ser)
n.3279A>T
c.2872A>T (p.Thr958Ser)
c.2686A>T (p.Thr896Ser)
n.3282A>T
c.2977A>T (p.Thr993Ser)
c.3043A>T (p.Thr1015Ser)
c.2995A>T (p.Thr999Ser)
c.2860A>T (p.Thr954Ser)
c.2896-37A>T (n.2896-37A>T)
16g.28836087C>ACA395409275ATXN2Lc.3050C>A (p.Thr1017Lys)
c.1025C>A (p.Thr342Lys)
n.3424C>A
c.245C>A (p.Thr82Lys)
c.3068C>A (p.Thr1023Lys)
c.2114C>A (n.2114C>A)
c.319C>A
c.1028C>A (p.Thr343Lys)
c.3071C>A (p.Thr1024Lys)
c.3053C>A (p.Thr1018Lys)
c.2891C>A (p.Thr964Lys)
c.2999C>A (p.Thr1000Lys)
c.2981C>A (p.Thr994Lys)
c.2705C>A (p.Thr902Lys)
n.3280C>A
c.2873C>A (p.Thr958Lys)
c.2687C>A (p.Thr896Lys)
n.3283C>A
c.2978C>A (p.Thr993Lys)
c.3044C>A (p.Thr1015Lys)
c.2996C>A (p.Thr999Lys)
c.2861C>A (p.Thr954Lys)
c.2896-36C>A (n.2896-36C>A)
16g.28836087C>GCA395409277ATXN2Lc.3050C>G (p.Thr1017Arg)
c.1025C>G (p.Thr342Arg)
n.3424C>G
c.245C>G (p.Thr82Arg)
c.3068C>G (p.Thr1023Arg)
c.2114C>G (n.2114C>G)
c.319C>G
c.1028C>G (p.Thr343Arg)
c.3071C>G (p.Thr1024Arg)
c.3053C>G (p.Thr1018Arg)
c.2891C>G (p.Thr964Arg)
c.2999C>G (p.Thr1000Arg)
c.2981C>G (p.Thr994Arg)
c.2705C>G (p.Thr902Arg)
n.3280C>G
c.2873C>G (p.Thr958Arg)
c.2687C>G (p.Thr896Arg)
n.3283C>G
c.2978C>G (p.Thr993Arg)
c.3044C>G (p.Thr1015Arg)
c.2996C>G (p.Thr999Arg)
c.2861C>G (p.Thr954Arg)
c.2896-36C>G (n.2896-36C>G)
16g.28836087C>TCA395409276ATXN2Lc.3050C>T (p.Thr1017Ile)
c.1025C>T (p.Thr342Ile)
n.3424C>T
c.245C>T (p.Thr82Ile)
c.3068C>T (p.Thr1023Ile)
c.2114C>T (n.2114C>T)
c.319C>T
c.1028C>T (p.Thr343Ile)
c.3071C>T (p.Thr1024Ile)
c.3053C>T (p.Thr1018Ile)
c.2891C>T (p.Thr964Ile)
c.2999C>T (p.Thr1000Ile)
c.2981C>T (p.Thr994Ile)
c.2705C>T (p.Thr902Ile)
n.3280C>T
c.2873C>T (p.Thr958Ile)
c.2687C>T (p.Thr896Ile)
n.3283C>T
c.2978C>T (p.Thr993Ile)
c.3044C>T (p.Thr1015Ile)
c.2996C>T (p.Thr999Ile)
c.2861C>T (p.Thr954Ile)
c.2896-36C>T (n.2896-36C>T)
16g.28836088A>CCA494869437ATXN2Lc.3051A>C (p.Thr1017=)
c.1026A>C (p.Thr342=)
n.3425A>C
c.246A>C (p.Thr82=)
c.3069A>C (p.Thr1023=)
c.2115A>C (n.2115A>C)
c.320A>C
c.1029A>C (p.Thr343=)
c.3072A>C (p.Thr1024=)
c.3054A>C (p.Thr1018=)
c.2892A>C (p.Thr964=)
c.3000A>C (p.Thr1000=)
c.2982A>C (p.Thr994=)
c.2706A>C (p.Thr902=)
n.3281A>C
c.2874A>C (p.Thr958=)
c.2688A>C (p.Thr896=)
n.3284A>C
c.2979A>C (p.Thr993=)
c.3045A>C (p.Thr1015=)
c.2997A>C (p.Thr999=)
c.2862A>C (p.Thr954=)
c.2896-35A>C (n.2896-35A>C)
16g.28836088A>GCA494869441ATXN2Lc.3051A>G (p.Thr1017=)
c.1026A>G (p.Thr342=)
n.3425A>G
c.246A>G (p.Thr82=)
c.3069A>G (p.Thr1023=)
c.2115A>G (n.2115A>G)
c.320A>G
c.1029A>G (p.Thr343=)
c.3072A>G (p.Thr1024=)
c.3054A>G (p.Thr1018=)
c.2892A>G (p.Thr964=)
c.3000A>G (p.Thr1000=)
c.2982A>G (p.Thr994=)
c.2706A>G (p.Thr902=)
n.3281A>G
c.2874A>G (p.Thr958=)
c.2688A>G (p.Thr896=)
n.3284A>G
c.2979A>G (p.Thr993=)
c.3045A>G (p.Thr1015=)
c.2997A>G (p.Thr999=)
c.2862A>G (p.Thr954=)
c.2896-35A>G (n.2896-35A>G)
16g.28836088A>TCA494869439ATXN2Lc.3051A>T (p.Thr1017=)
c.1026A>T (p.Thr342=)
n.3425A>T
c.246A>T (p.Thr82=)
c.3069A>T (p.Thr1023=)
c.2115A>T (n.2115A>T)
c.320A>T
c.1029A>T (p.Thr343=)
c.3072A>T (p.Thr1024=)
c.3054A>T (p.Thr1018=)
c.2892A>T (p.Thr964=)
c.3000A>T (p.Thr1000=)
c.2982A>T (p.Thr994=)
c.2706A>T (p.Thr902=)
n.3281A>T
c.2874A>T (p.Thr958=)
c.2688A>T (p.Thr896=)
n.3284A>T
c.2979A>T (p.Thr993=)
c.3045A>T (p.Thr1015=)
c.2997A>T (p.Thr999=)
c.2862A>T (p.Thr954=)
c.2896-35A>T (n.2896-35A>T)
16g.28836089C>ACA395409278ATXN2Lc.3052C>A (p.Pro1018Thr)
c.1027C>A (p.Pro343Thr)
n.3426C>A
c.247C>A (p.Pro83Thr)
c.3070C>A (p.Pro1024Thr)
c.2116C>A (n.2116C>A)
c.321C>A
c.1030C>A (p.Pro344Thr)
c.3073C>A (p.Pro1025Thr)
c.3055C>A (p.Pro1019Thr)
c.2893C>A (p.Pro965Thr)
c.3001C>A (p.Pro1001Thr)
c.2983C>A (p.Pro995Thr)
c.2707C>A (p.Pro903Thr)
n.3282C>A
c.2875C>A (p.Pro959Thr)
c.2689C>A (p.Pro897Thr)
n.3285C>A
c.2980C>A (p.Pro994Thr)
c.3046C>A (p.Pro1016Thr)
c.2998C>A (p.Pro1000Thr)
c.2863C>A (p.Pro955Thr)
c.2896-34C>A (n.2896-34C>A)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836089C=CA2215806919ATXN2Lc.3052C= (p.Pro1018=)
c.1027C= (p.Pro343=)
n.3426C=
c.247C= (p.Pro83=)
c.3070C= (p.Pro1024=)
c.2116C= (n.2116C=)
c.321C=
c.1030C= (p.Pro344=)
c.3073C= (p.Pro1025=)
c.3055C= (p.Pro1019=)
c.2893C= (p.Pro965=)
c.3001C= (p.Pro1001=)
c.2983C= (p.Pro995=)
c.2707C= (p.Pro903=)
n.3282C=
c.2875C= (p.Pro959=)
c.2689C= (p.Pro897=)
n.3285C=
c.2980C= (p.Pro994=)
c.3046C= (p.Pro1016=)
c.2998C= (p.Pro1000=)
c.2863C= (p.Pro955=)
c.2896-34C= (n.2896-34C=)
16g.28836089C>GCA395409279ATXN2Lc.3052C>G (p.Pro1018Ala)
c.1027C>G (p.Pro343Ala)
n.3426C>G
c.247C>G (p.Pro83Ala)
c.3070C>G (p.Pro1024Ala)
c.2116C>G (n.2116C>G)
c.321C>G
c.1030C>G (p.Pro344Ala)
c.3073C>G (p.Pro1025Ala)
c.3055C>G (p.Pro1019Ala)
c.2893C>G (p.Pro965Ala)
c.3001C>G (p.Pro1001Ala)
c.2983C>G (p.Pro995Ala)
c.2707C>G (p.Pro903Ala)
n.3282C>G
c.2875C>G (p.Pro959Ala)
c.2689C>G (p.Pro897Ala)
n.3285C>G
c.2980C>G (p.Pro994Ala)
c.3046C>G (p.Pro1016Ala)
c.2998C>G (p.Pro1000Ala)
c.2863C>G (p.Pro955Ala)
c.2896-34C>G (n.2896-34C>G)
16g.28836089C>TCA395409280ATXN2Lc.3052C>T (p.Pro1018Ser)
c.1027C>T (p.Pro343Ser)
n.3426C>T
c.247C>T (p.Pro83Ser)
c.3070C>T (p.Pro1024Ser)
c.2116C>T (n.2116C>T)
c.321C>T
c.1030C>T (p.Pro344Ser)
c.3073C>T (p.Pro1025Ser)
c.3055C>T (p.Pro1019Ser)
c.2893C>T (p.Pro965Ser)
c.3001C>T (p.Pro1001Ser)
c.2983C>T (p.Pro995Ser)
c.2707C>T (p.Pro903Ser)
n.3282C>T
c.2875C>T (p.Pro959Ser)
c.2689C>T (p.Pro897Ser)
n.3285C>T
c.2980C>T (p.Pro994Ser)
c.3046C>T (p.Pro1016Ser)
c.2998C>T (p.Pro1000Ser)
c.2863C>T (p.Pro955Ser)
c.2896-34C>T (n.2896-34C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836090C>ACA395409281ATXN2Lc.3053C>A (p.Pro1018His)
c.1028C>A (p.Pro343His)
n.3427C>A
c.248C>A (p.Pro83His)
c.3071C>A (p.Pro1024His)
c.2117C>A (n.2117C>A)
c.322C>A
c.1031C>A (p.Pro344His)
c.3074C>A (p.Pro1025His)
c.3056C>A (p.Pro1019His)
c.2894C>A (p.Pro965His)
c.3002C>A (p.Pro1001His)
c.2984C>A (p.Pro995His)
c.2708C>A (p.Pro903His)
n.3283C>A
c.2876C>A (p.Pro959His)
c.2690C>A (p.Pro897His)
n.3286C>A
c.2981C>A (p.Pro994His)
c.3047C>A (p.Pro1016His)
c.2999C>A (p.Pro1000His)
c.2864C>A (p.Pro955His)
c.2896-33C>A (n.2896-33C>A)
16g.28836090C>GCA395409282ATXN2Lc.3053C>G (p.Pro1018Arg)
c.1028C>G (p.Pro343Arg)
n.3427C>G
c.248C>G (p.Pro83Arg)
c.3071C>G (p.Pro1024Arg)
c.2117C>G (n.2117C>G)
c.322C>G
c.1031C>G (p.Pro344Arg)
c.3074C>G (p.Pro1025Arg)
c.3056C>G (p.Pro1019Arg)
c.2894C>G (p.Pro965Arg)
c.3002C>G (p.Pro1001Arg)
c.2984C>G (p.Pro995Arg)
c.2708C>G (p.Pro903Arg)
n.3283C>G
c.2876C>G (p.Pro959Arg)
c.2690C>G (p.Pro897Arg)
n.3286C>G
c.2981C>G (p.Pro994Arg)
c.3047C>G (p.Pro1016Arg)
c.2999C>G (p.Pro1000Arg)
c.2864C>G (p.Pro955Arg)
c.2896-33C>G (n.2896-33C>G)
16g.28836090C>TCA395409283ATXN2Lc.3053C>T (p.Pro1018Leu)
c.1028C>T (p.Pro343Leu)
n.3427C>T
c.248C>T (p.Pro83Leu)
c.3071C>T (p.Pro1024Leu)
c.2117C>T (n.2117C>T)
c.322C>T
c.1031C>T (p.Pro344Leu)
c.3074C>T (p.Pro1025Leu)
c.3056C>T (p.Pro1019Leu)
c.2894C>T (p.Pro965Leu)
c.3002C>T (p.Pro1001Leu)
c.2984C>T (p.Pro995Leu)
c.2708C>T (p.Pro903Leu)
n.3283C>T
c.2876C>T (p.Pro959Leu)
c.2690C>T (p.Pro897Leu)
n.3286C>T
c.2981C>T (p.Pro994Leu)
c.3047C>T (p.Pro1016Leu)
c.2999C>T (p.Pro1000Leu)
c.2864C>T (p.Pro955Leu)
c.2896-33C>T (n.2896-33C>T)
16g.28836091C>ACA494869452ATXN2Lc.3054C>A (p.Pro1018=)
c.1029C>A (p.Pro343=)
n.3428C>A
c.249C>A (p.Pro83=)
c.3072C>A (p.Pro1024=)
c.2118C>A (n.2118C>A)
c.323C>A
c.1032C>A (p.Pro344=)
c.3075C>A (p.Pro1025=)
c.3057C>A (p.Pro1019=)
c.2895C>A (p.Pro965=)
c.3003C>A (p.Pro1001=)
c.2985C>A (p.Pro995=)
c.2709C>A (p.Pro903=)
n.3284C>A
c.2877C>A (p.Pro959=)
c.2691C>A (p.Pro897=)
n.3287C>A
c.2982C>A (p.Pro994=)
c.3048C>A (p.Pro1016=)
c.3000C>A (p.Pro1000=)
c.2865C>A (p.Pro955=)
c.2896-32C>A (n.2896-32C>A)
16g.28836091C>GCA494869454ATXN2Lc.3054C>G (p.Pro1018=)
c.1029C>G (p.Pro343=)
n.3428C>G
c.249C>G (p.Pro83=)
c.3072C>G (p.Pro1024=)
c.2118C>G (n.2118C>G)
c.323C>G
c.1032C>G (p.Pro344=)
c.3075C>G (p.Pro1025=)
c.3057C>G (p.Pro1019=)
c.2895C>G (p.Pro965=)
c.3003C>G (p.Pro1001=)
c.2985C>G (p.Pro995=)
c.2709C>G (p.Pro903=)
n.3284C>G
c.2877C>G (p.Pro959=)
c.2691C>G (p.Pro897=)
n.3287C>G
c.2982C>G (p.Pro994=)
c.3048C>G (p.Pro1016=)
c.3000C>G (p.Pro1000=)
c.2865C>G (p.Pro955=)
c.2896-32C>G (n.2896-32C>G)
 gnomAD v4
16g.28836091C>TCA494869459ATXN2Lc.3054C>T (p.Pro1018=)
c.1029C>T (p.Pro343=)
n.3428C>T
c.249C>T (p.Pro83=)
c.3072C>T (p.Pro1024=)
c.2118C>T (n.2118C>T)
c.323C>T
c.1032C>T (p.Pro344=)
c.3075C>T (p.Pro1025=)
c.3057C>T (p.Pro1019=)
c.2895C>T (p.Pro965=)
c.3003C>T (p.Pro1001=)
c.2985C>T (p.Pro995=)
c.2709C>T (p.Pro903=)
n.3284C>T
c.2877C>T (p.Pro959=)
c.2691C>T (p.Pro897=)
n.3287C>T
c.2982C>T (p.Pro994=)
c.3048C>T (p.Pro1016=)
c.3000C>T (p.Pro1000=)
c.2865C>T (p.Pro955=)
c.2896-32C>T (n.2896-32C>T)
16g.28836092T>ACA395409844ATXN2Lc.3055T>A (p.Ser1019Thr)
c.1030T>A (p.Ser344Thr)
n.3429T>A
c.250T>A (p.Ser84Thr)
c.3073T>A (p.Ser1025Thr)
c.2119T>A (n.2119T>A)
c.324T>A
c.1033T>A (p.Ser345Thr)
c.3076T>A (p.Ser1026Thr)
c.3058T>A (p.Ser1020Thr)
c.2896T>A (p.Ser966Thr)
c.3004T>A (p.Ser1002Thr)
c.2986T>A (p.Ser996Thr)
c.2710T>A (p.Ser904Thr)
n.3285T>A
c.2878T>A (p.Ser960Thr)
c.2692T>A (p.Ser898Thr)
n.3288T>A
c.2983T>A (p.Ser995Thr)
c.3049T>A (p.Ser1017Thr)
c.3001T>A (p.Ser1001Thr)
c.2866T>A (p.Ser956Thr)
c.2896-31T>A (n.2896-31T>A)
16g.28836092T>CCA395409845ATXN2Lc.3055T>C (p.Ser1019Pro)
c.1030T>C (p.Ser344Pro)
n.3429T>C
c.250T>C (p.Ser84Pro)
c.3073T>C (p.Ser1025Pro)
c.2119T>C (n.2119T>C)
c.324T>C
c.1033T>C (p.Ser345Pro)
c.3076T>C (p.Ser1026Pro)
c.3058T>C (p.Ser1020Pro)
c.2896T>C (p.Ser966Pro)
c.3004T>C (p.Ser1002Pro)
c.2986T>C (p.Ser996Pro)
c.2710T>C (p.Ser904Pro)
n.3285T>C
c.2878T>C (p.Ser960Pro)
c.2692T>C (p.Ser898Pro)
n.3288T>C
c.2983T>C (p.Ser995Pro)
c.3049T>C (p.Ser1017Pro)
c.3001T>C (p.Ser1001Pro)
c.2866T>C (p.Ser956Pro)
c.2896-31T>C (n.2896-31T>C)
16g.28836092T>GCA395409847ATXN2Lc.3055T>G (p.Ser1019Ala)
c.1030T>G (p.Ser344Ala)
n.3429T>G
c.250T>G (p.Ser84Ala)
c.3073T>G (p.Ser1025Ala)
c.2119T>G (n.2119T>G)
c.324T>G
c.1033T>G (p.Ser345Ala)
c.3076T>G (p.Ser1026Ala)
c.3058T>G (p.Ser1020Ala)
c.2896T>G (p.Ser966Ala)
c.3004T>G (p.Ser1002Ala)
c.2986T>G (p.Ser996Ala)
c.2710T>G (p.Ser904Ala)
n.3285T>G
c.2878T>G (p.Ser960Ala)
c.2692T>G (p.Ser898Ala)
n.3288T>G
c.2983T>G (p.Ser995Ala)
c.3049T>G (p.Ser1017Ala)
c.3001T>G (p.Ser1001Ala)
c.2866T>G (p.Ser956Ala)
c.2896-31T>G (n.2896-31T>G)
16g.28836093C>ACA395409850ATXN2Lc.3056C>A (p.Ser1019Ter)
c.1031C>A (p.Ser344Ter)
n.3430C>A
c.251C>A (p.Ser84Ter)
c.3074C>A (p.Ser1025Ter)
c.2120C>A (n.2120C>A)
c.325C>A
c.1034C>A (p.Ser345Ter)
c.3077C>A (p.Ser1026Ter)
c.3059C>A (p.Ser1020Ter)
c.2897C>A (p.Ser966Ter)
c.3005C>A (p.Ser1002Ter)
c.2987C>A (p.Ser996Ter)
c.2711C>A (p.Ser904Ter)
n.3286C>A
c.2879C>A (p.Ser960Ter)
c.2693C>A (p.Ser898Ter)
n.3289C>A
c.2984C>A (p.Ser995Ter)
c.3050C>A (p.Ser1017Ter)
c.3002C>A (p.Ser1001Ter)
c.2867C>A (p.Ser956Ter)
c.2896-30C>A (n.2896-30C>A)
16g.28836093C>GCA395409852ATXN2Lc.3056C>G (p.Ser1019Ter)
c.1031C>G (p.Ser344Ter)
n.3430C>G
c.251C>G (p.Ser84Ter)
c.3074C>G (p.Ser1025Ter)
c.2120C>G (n.2120C>G)
c.325C>G
c.1034C>G (p.Ser345Ter)
c.3077C>G (p.Ser1026Ter)
c.3059C>G (p.Ser1020Ter)
c.2897C>G (p.Ser966Ter)
c.3005C>G (p.Ser1002Ter)
c.2987C>G (p.Ser996Ter)
c.2711C>G (p.Ser904Ter)
n.3286C>G
c.2879C>G (p.Ser960Ter)
c.2693C>G (p.Ser898Ter)
n.3289C>G
c.2984C>G (p.Ser995Ter)
c.3050C>G (p.Ser1017Ter)
c.3002C>G (p.Ser1001Ter)
c.2867C>G (p.Ser956Ter)
c.2896-30C>G (n.2896-30C>G)
16g.28836093C>TCA395409854ATXN2Lc.3056C>T (p.Ser1019Leu)
c.1031C>T (p.Ser344Leu)
n.3430C>T
c.251C>T (p.Ser84Leu)
c.3074C>T (p.Ser1025Leu)
c.2120C>T (n.2120C>T)
c.325C>T
c.1034C>T (p.Ser345Leu)
c.3077C>T (p.Ser1026Leu)
c.3059C>T (p.Ser1020Leu)
c.2897C>T (p.Ser966Leu)
c.3005C>T (p.Ser1002Leu)
c.2987C>T (p.Ser996Leu)
c.2711C>T (p.Ser904Leu)
n.3286C>T
c.2879C>T (p.Ser960Leu)
c.2693C>T (p.Ser898Leu)
n.3289C>T
c.2984C>T (p.Ser995Leu)
c.3050C>T (p.Ser1017Leu)
c.3002C>T (p.Ser1001Leu)
c.2867C>T (p.Ser956Leu)
c.2896-30C>T (n.2896-30C>T)
 gnomAD v4 COSMIC COSMIC
16g.28836094A>CCA494868418ATXN2Lc.3057A>C (p.Ser1019=)
c.1032A>C (p.Ser344=)
n.3431A>C
c.252A>C (p.Ser84=)
c.3075A>C (p.Ser1025=)
c.2121A>C (n.2121A>C)
c.326A>C
c.1035A>C (p.Ser345=)
c.3078A>C (p.Ser1026=)
c.3060A>C (p.Ser1020=)
c.2898A>C (p.Ser966=)
c.3006A>C (p.Ser1002=)
c.2988A>C (p.Ser996=)
c.2712A>C (p.Ser904=)
n.3287A>C
c.2880A>C (p.Ser960=)
c.2694A>C (p.Ser898=)
n.3290A>C
c.2985A>C (p.Ser995=)
c.3051A>C (p.Ser1017=)
c.3003A>C (p.Ser1001=)
c.2868A>C (p.Ser956=)
c.2896-29A>C (n.2896-29A>C)
16g.28836094A>GCA494868423ATXN2Lc.3057A>G (p.Ser1019=)
c.1032A>G (p.Ser344=)
n.3431A>G
c.252A>G (p.Ser84=)
c.3075A>G (p.Ser1025=)
c.2121A>G (n.2121A>G)
c.326A>G
c.1035A>G (p.Ser345=)
c.3078A>G (p.Ser1026=)
c.3060A>G (p.Ser1020=)
c.2898A>G (p.Ser966=)
c.3006A>G (p.Ser1002=)
c.2988A>G (p.Ser996=)
c.2712A>G (p.Ser904=)
n.3287A>G
c.2880A>G (p.Ser960=)
c.2694A>G (p.Ser898=)
n.3290A>G
c.2985A>G (p.Ser995=)
c.3051A>G (p.Ser1017=)
c.3003A>G (p.Ser1001=)
c.2868A>G (p.Ser956=)
c.2896-29A>G (n.2896-29A>G)
16g.28836094A>TCA494868426ATXN2Lc.3057A>T (p.Ser1019=)
c.1032A>T (p.Ser344=)
n.3431A>T
c.252A>T (p.Ser84=)
c.3075A>T (p.Ser1025=)
c.2121A>T (n.2121A>T)
c.326A>T
c.1035A>T (p.Ser345=)
c.3078A>T (p.Ser1026=)
c.3060A>T (p.Ser1020=)
c.2898A>T (p.Ser966=)
c.3006A>T (p.Ser1002=)
c.2988A>T (p.Ser996=)
c.2712A>T (p.Ser904=)
n.3287A>T
c.2880A>T (p.Ser960=)
c.2694A>T (p.Ser898=)
n.3290A>T
c.2985A>T (p.Ser995=)
c.3051A>T (p.Ser1017=)
c.3003A>T (p.Ser1001=)
c.2868A>T (p.Ser956=)
c.2896-29A>T (n.2896-29A>T)
16g.28836095C>ACA7985168ATXN2Lc.3058C>A (p.Pro1020Thr)
c.1033C>A (p.Pro345Thr)
n.3432C>A
c.253C>A (p.Pro85Thr)
c.3076C>A (p.Pro1026Thr)
c.2122C>A (n.2122C>A)
c.327C>A
c.1036C>A (p.Pro346Thr)
c.3079C>A (p.Pro1027Thr)
c.3061C>A (p.Pro1021Thr)
c.2899C>A (p.Pro967Thr)
c.3007C>A (p.Pro1003Thr)
c.2989C>A (p.Pro997Thr)
c.2713C>A (p.Pro905Thr)
n.3288C>A
c.2881C>A (p.Pro961Thr)
c.2695C>A (p.Pro899Thr)
n.3291C>A
c.2986C>A (p.Pro996Thr)
c.3052C>A (p.Pro1018Thr)
c.3004C>A (p.Pro1002Thr)
c.2869C>A (p.Pro957Thr)
c.2896-28C>A (n.2896-28C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836095C=CA2215806921ATXN2Lc.3058C= (p.Pro1020=)
c.1033C= (p.Pro345=)
n.3432C=
c.253C= (p.Pro85=)
c.3076C= (p.Pro1026=)
c.2122C= (n.2122C=)
c.327C=
c.1036C= (p.Pro346=)
c.3079C= (p.Pro1027=)
c.3061C= (p.Pro1021=)
c.2899C= (p.Pro967=)
c.3007C= (p.Pro1003=)
c.2989C= (p.Pro997=)
c.2713C= (p.Pro905=)
n.3288C=
c.2881C= (p.Pro961=)
c.2695C= (p.Pro899=)
n.3291C=
c.2986C= (p.Pro996=)
c.3052C= (p.Pro1018=)
c.3004C= (p.Pro1002=)
c.2869C= (p.Pro957=)
c.2896-28C= (n.2896-28C=)
16g.28836095C>GCA395409860ATXN2Lc.3058C>G (p.Pro1020Ala)
c.1033C>G (p.Pro345Ala)
n.3432C>G
c.253C>G (p.Pro85Ala)
c.3076C>G (p.Pro1026Ala)
c.2122C>G (n.2122C>G)
c.327C>G
c.1036C>G (p.Pro346Ala)
c.3079C>G (p.Pro1027Ala)
c.3061C>G (p.Pro1021Ala)
c.2899C>G (p.Pro967Ala)
c.3007C>G (p.Pro1003Ala)
c.2989C>G (p.Pro997Ala)
c.2713C>G (p.Pro905Ala)
n.3288C>G
c.2881C>G (p.Pro961Ala)
c.2695C>G (p.Pro899Ala)
n.3291C>G
c.2986C>G (p.Pro996Ala)
c.3052C>G (p.Pro1018Ala)
c.3004C>G (p.Pro1002Ala)
c.2869C>G (p.Pro957Ala)
c.2896-28C>G (n.2896-28C>G)
16g.28836095C>TCA395409857ATXN2Lc.3058C>T (p.Pro1020Ser)
c.1033C>T (p.Pro345Ser)
n.3432C>T
c.253C>T (p.Pro85Ser)
c.3076C>T (p.Pro1026Ser)
c.2122C>T (n.2122C>T)
c.327C>T
c.1036C>T (p.Pro346Ser)
c.3079C>T (p.Pro1027Ser)
c.3061C>T (p.Pro1021Ser)
c.2899C>T (p.Pro967Ser)
c.3007C>T (p.Pro1003Ser)
c.2989C>T (p.Pro997Ser)
c.2713C>T (p.Pro905Ser)
n.3288C>T
c.2881C>T (p.Pro961Ser)
c.2695C>T (p.Pro899Ser)
n.3291C>T
c.2986C>T (p.Pro996Ser)
c.3052C>T (p.Pro1018Ser)
c.3004C>T (p.Pro1002Ser)
c.2869C>T (p.Pro957Ser)
c.2896-28C>T (n.2896-28C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.28836096C>ACA395409862ATXN2Lc.3059C>A (p.Pro1020His)
c.1034C>A (p.Pro345His)
n.3433C>A
c.254C>A (p.Pro85His)
c.3077C>A (p.Pro1026His)
c.2123C>A (n.2123C>A)
c.328C>A
c.1037C>A (p.Pro346His)
c.3080C>A (p.Pro1027His)
c.3062C>A (p.Pro1021His)
c.2900C>A (p.Pro967His)
c.3008C>A (p.Pro1003His)
c.2990C>A (p.Pro997His)
c.2714C>A (p.Pro905His)
n.3289C>A
c.2882C>A (p.Pro961His)
c.2696C>A (p.Pro899His)
n.3292C>A
c.2987C>A (p.Pro996His)
c.3053C>A (p.Pro1018His)
c.3005C>A (p.Pro1002His)
c.2870C>A (p.Pro957His)
c.2896-27C>A (n.2896-27C>A)
 gnomAD v4
16g.28836096C=CA2215806924ATXN2Lc.3059C= (p.Pro1020=)
c.1034C= (p.Pro345=)
n.3433C=
c.254C= (p.Pro85=)
c.3077C= (p.Pro1026=)
c.2123C= (n.2123C=)
c.328C=
c.1037C= (p.Pro346=)
c.3080C= (p.Pro1027=)
c.3062C= (p.Pro1021=)
c.2900C= (p.Pro967=)
c.3008C= (p.Pro1003=)
c.2990C= (p.Pro997=)
c.2714C= (p.Pro905=)
n.3289C=
c.2882C= (p.Pro961=)
c.2696C= (p.Pro899=)
n.3292C=
c.2987C= (p.Pro996=)
c.3053C= (p.Pro1018=)
c.3005C= (p.Pro1002=)
c.2870C= (p.Pro957=)
c.2896-27C= (n.2896-27C=)
16g.28836096C>GCA395409864ATXN2Lc.3059C>G (p.Pro1020Arg)
c.1034C>G (p.Pro345Arg)
n.3433C>G
c.254C>G (p.Pro85Arg)
c.3077C>G (p.Pro1026Arg)
c.2123C>G (n.2123C>G)
c.328C>G
c.1037C>G (p.Pro346Arg)
c.3080C>G (p.Pro1027Arg)
c.3062C>G (p.Pro1021Arg)
c.2900C>G (p.Pro967Arg)
c.3008C>G (p.Pro1003Arg)
c.2990C>G (p.Pro997Arg)
c.2714C>G (p.Pro905Arg)
n.3289C>G
c.2882C>G (p.Pro961Arg)
c.2696C>G (p.Pro899Arg)
n.3292C>G
c.2987C>G (p.Pro996Arg)
c.3053C>G (p.Pro1018Arg)
c.3005C>G (p.Pro1002Arg)
c.2870C>G (p.Pro957Arg)
c.2896-27C>G (n.2896-27C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28836096C>TCA395409865ATXN2Lc.3059C>T (p.Pro1020Leu)
c.1034C>T (p.Pro345Leu)
n.3433C>T
c.254C>T (p.Pro85Leu)
c.3077C>T (p.Pro1026Leu)
c.2123C>T (n.2123C>T)
c.328C>T
c.1037C>T (p.Pro346Leu)
c.3080C>T (p.Pro1027Leu)
c.3062C>T (p.Pro1021Leu)
c.2900C>T (p.Pro967Leu)
c.3008C>T (p.Pro1003Leu)
c.2990C>T (p.Pro997Leu)
c.2714C>T (p.Pro905Leu)
n.3289C>T
c.2882C>T (p.Pro961Leu)
c.2696C>T (p.Pro899Leu)
n.3292C>T
c.2987C>T (p.Pro996Leu)
c.3053C>T (p.Pro1018Leu)
c.3005C>T (p.Pro1002Leu)
c.2870C>T (p.Pro957Leu)
c.2896-27C>T (n.2896-27C>T)
 dbSNP gnomAD v2
16g.28836097C>ACA494868442ATXN2Lc.3060C>A (p.Pro1020=)
c.1035C>A (p.Pro345=)
n.3434C>A
c.255C>A (p.Pro85=)
c.3078C>A (p.Pro1026=)
c.2124C>A (n.2124C>A)
c.329C>A
c.1038C>A (p.Pro346=)
c.3081C>A (p.Pro1027=)
c.3063C>A (p.Pro1021=)
c.2901C>A (p.Pro967=)
c.3009C>A (p.Pro1003=)
c.2991C>A (p.Pro997=)
c.2715C>A (p.Pro905=)
n.3290C>A
c.2883C>A (p.Pro961=)
c.2697C>A (p.Pro899=)
n.3293C>A
c.2988C>A (p.Pro996=)
c.3054C>A (p.Pro1018=)
c.3006C>A (p.Pro1002=)
c.2871C>A (p.Pro957=)
c.2896-26C>A (n.2896-26C>A)
16g.28836097C=CA2215806926ATXN2Lc.3060C= (p.Pro1020=)
c.1035C= (p.Pro345=)
n.3434C=
c.255C= (p.Pro85=)
c.3078C= (p.Pro1026=)
c.2124C= (n.2124C=)
c.329C=
c.1038C= (p.Pro346=)
c.3081C= (p.Pro1027=)
c.3063C= (p.Pro1021=)
c.2901C= (p.Pro967=)
c.3009C= (p.Pro1003=)
c.2991C= (p.Pro997=)
c.2715C= (p.Pro905=)
n.3290C=
c.2883C= (p.Pro961=)
c.2697C= (p.Pro899=)
n.3293C=
c.2988C= (p.Pro996=)
c.3054C= (p.Pro1018=)
c.3006C= (p.Pro1002=)
c.2871C= (p.Pro957=)
c.2896-26C= (n.2896-26C=)
16g.28836097C>GCA494868444ATXN2Lc.3060C>G (p.Pro1020=)
c.1035C>G (p.Pro345=)
n.3434C>G
c.255C>G (p.Pro85=)
c.3078C>G (p.Pro1026=)
c.2124C>G (n.2124C>G)
c.329C>G
c.1038C>G (p.Pro346=)
c.3081C>G (p.Pro1027=)
c.3063C>G (p.Pro1021=)
c.2901C>G (p.Pro967=)
c.3009C>G (p.Pro1003=)
c.2991C>G (p.Pro997=)
c.2715C>G (p.Pro905=)
n.3290C>G
c.2883C>G (p.Pro961=)
c.2697C>G (p.Pro899=)
n.3293C>G
c.2988C>G (p.Pro996=)
c.3054C>G (p.Pro1018=)
c.3006C>G (p.Pro1002=)
c.2871C>G (p.Pro957=)
c.2896-26C>G (n.2896-26C>G)
16g.28836097C>TCA494868446ATXN2Lc.3060C>T (p.Pro1020=)
c.1035C>T (p.Pro345=)
n.3434C>T
c.255C>T (p.Pro85=)
c.3078C>T (p.Pro1026=)
c.2124C>T (n.2124C>T)
c.329C>T
c.1038C>T (p.Pro346=)
c.3081C>T (p.Pro1027=)
c.3063C>T (p.Pro1021=)
c.2901C>T (p.Pro967=)
c.3009C>T (p.Pro1003=)
c.2991C>T (p.Pro997=)
c.2715C>T (p.Pro905=)
n.3290C>T
c.2883C>T (p.Pro961=)
c.2697C>T (p.Pro899=)
n.3293C>T
c.2988C>T (p.Pro996=)
c.3054C>T (p.Pro1018=)
c.3006C>T (p.Pro1002=)
c.2871C>T (p.Pro957=)
c.2896-26C>T (n.2896-26C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836098T>ACA395409867ATXN2Lc.3061T>A (p.Tyr1021Asn)
c.1036T>A (p.Tyr346Asn)
n.3435T>A
c.256T>A (p.Tyr86Asn)
c.3079T>A (p.Tyr1027Asn)
c.2125T>A (n.2125T>A)
c.330T>A
c.1039T>A (p.Tyr347Asn)
c.3082T>A (p.Tyr1028Asn)
c.3064T>A (p.Tyr1022Asn)
c.2902T>A (p.Tyr968Asn)
c.3010T>A (p.Tyr1004Asn)
c.2992T>A (p.Tyr998Asn)
c.2716T>A (p.Tyr906Asn)
n.3291T>A
c.2884T>A (p.Tyr962Asn)
c.2698T>A (p.Tyr900Asn)
n.3294T>A
c.2989T>A (p.Tyr997Asn)
c.3055T>A (p.Tyr1019Asn)
c.3007T>A (p.Tyr1003Asn)
c.2872T>A (p.Tyr958Asn)
c.2896-25T>A (n.2896-25T>A)
16g.28836098T>CCA395409869ATXN2Lc.3061T>C (p.Tyr1021His)
c.1036T>C (p.Tyr346His)
n.3435T>C
c.256T>C (p.Tyr86His)
c.3079T>C (p.Tyr1027His)
c.2125T>C (n.2125T>C)
c.330T>C
c.1039T>C (p.Tyr347His)
c.3082T>C (p.Tyr1028His)
c.3064T>C (p.Tyr1022His)
c.2902T>C (p.Tyr968His)
c.3010T>C (p.Tyr1004His)
c.2992T>C (p.Tyr998His)
c.2716T>C (p.Tyr906His)
n.3291T>C
c.2884T>C (p.Tyr962His)
c.2698T>C (p.Tyr900His)
n.3294T>C
c.2989T>C (p.Tyr997His)
c.3055T>C (p.Tyr1019His)
c.3007T>C (p.Tyr1003His)
c.2872T>C (p.Tyr958His)
c.2896-25T>C (n.2896-25T>C)
16g.28836098T>GCA395409871ATXN2Lc.3061T>G (p.Tyr1021Asp)
c.1036T>G (p.Tyr346Asp)
n.3435T>G
c.256T>G (p.Tyr86Asp)
c.3079T>G (p.Tyr1027Asp)
c.2125T>G (n.2125T>G)
c.330T>G
c.1039T>G (p.Tyr347Asp)
c.3082T>G (p.Tyr1028Asp)
c.3064T>G (p.Tyr1022Asp)
c.2902T>G (p.Tyr968Asp)
c.3010T>G (p.Tyr1004Asp)
c.2992T>G (p.Tyr998Asp)
c.2716T>G (p.Tyr906Asp)
n.3291T>G
c.2884T>G (p.Tyr962Asp)
c.2698T>G (p.Tyr900Asp)
n.3294T>G
c.2989T>G (p.Tyr997Asp)
c.3055T>G (p.Tyr1019Asp)
c.3007T>G (p.Tyr1003Asp)
c.2872T>G (p.Tyr958Asp)
c.2896-25T>G (n.2896-25T>G)
16g.28836099A=CA2215806932ATXN2Lc.3062A= (p.Tyr1021=)
c.1037A= (p.Tyr346=)
n.3436A=
c.257A= (p.Tyr86=)
c.3080A= (p.Tyr1027=)
c.2126A= (n.2126A=)
c.331A=
c.1040A= (p.Tyr347=)
c.3083A= (p.Tyr1028=)
c.3065A= (p.Tyr1022=)
c.2903A= (p.Tyr968=)
c.3011A= (p.Tyr1004=)
c.2993A= (p.Tyr998=)
c.2717A= (p.Tyr906=)
n.3292A=
c.2885A= (p.Tyr962=)
c.2699A= (p.Tyr900=)
n.3295A=
c.2990A= (p.Tyr997=)
c.3056A= (p.Tyr1019=)
c.3008A= (p.Tyr1003=)
c.2873A= (p.Tyr958=)
c.2896-24A= (n.2896-24A=)
16g.28836099A>CCA395409876ATXN2Lc.3062A>C (p.Tyr1021Ser)
c.1037A>C (p.Tyr346Ser)
n.3436A>C
c.257A>C (p.Tyr86Ser)
c.3080A>C (p.Tyr1027Ser)
c.2126A>C (n.2126A>C)
c.331A>C
c.1040A>C (p.Tyr347Ser)
c.3083A>C (p.Tyr1028Ser)
c.3065A>C (p.Tyr1022Ser)
c.2903A>C (p.Tyr968Ser)
c.3011A>C (p.Tyr1004Ser)
c.2993A>C (p.Tyr998Ser)
c.2717A>C (p.Tyr906Ser)
n.3292A>C
c.2885A>C (p.Tyr962Ser)
c.2699A>C (p.Tyr900Ser)
n.3295A>C
c.2990A>C (p.Tyr997Ser)
c.3056A>C (p.Tyr1019Ser)
c.3008A>C (p.Tyr1003Ser)
c.2873A>C (p.Tyr958Ser)
c.2896-24A>C (n.2896-24A>C)
16g.28836099A>GCA279232139ATXN2Lc.3062A>G (p.Tyr1021Cys)
c.1037A>G (p.Tyr346Cys)
n.3436A>G
c.257A>G (p.Tyr86Cys)
c.3080A>G (p.Tyr1027Cys)
c.2126A>G (n.2126A>G)
c.331A>G
c.1040A>G (p.Tyr347Cys)
c.3083A>G (p.Tyr1028Cys)
c.3065A>G (p.Tyr1022Cys)
c.2903A>G (p.Tyr968Cys)
c.3011A>G (p.Tyr1004Cys)
c.2993A>G (p.Tyr998Cys)
c.2717A>G (p.Tyr906Cys)
n.3292A>G
c.2885A>G (p.Tyr962Cys)
c.2699A>G (p.Tyr900Cys)
n.3295A>G
c.2990A>G (p.Tyr997Cys)
c.3056A>G (p.Tyr1019Cys)
c.3008A>G (p.Tyr1003Cys)
c.2873A>G (p.Tyr958Cys)
c.2896-24A>G (n.2896-24A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.28836099A>TCA395409875ATXN2Lc.3062A>T (p.Tyr1021Phe)
c.1037A>T (p.Tyr346Phe)
n.3436A>T
c.257A>T (p.Tyr86Phe)
c.3080A>T (p.Tyr1027Phe)
c.2126A>T (n.2126A>T)
c.331A>T
c.1040A>T (p.Tyr347Phe)
c.3083A>T (p.Tyr1028Phe)
c.3065A>T (p.Tyr1022Phe)
c.2903A>T (p.Tyr968Phe)
c.3011A>T (p.Tyr1004Phe)
c.2993A>T (p.Tyr998Phe)
c.2717A>T (p.Tyr906Phe)
n.3292A>T
c.2885A>T (p.Tyr962Phe)
c.2699A>T (p.Tyr900Phe)
n.3295A>T
c.2990A>T (p.Tyr997Phe)
c.3056A>T (p.Tyr1019Phe)
c.3008A>T (p.Tyr1003Phe)
c.2873A>T (p.Tyr958Phe)
c.2896-24A>T (n.2896-24A>T)
 dbSNP gnomAD v2
16g.28836100C>ACA395409878ATXN2Lc.3063C>A (p.Tyr1021Ter)
c.1038C>A (p.Tyr346Ter)
n.3437C>A
c.258C>A (p.Tyr86Ter)
c.3081C>A (p.Tyr1027Ter)
c.2127C>A (n.2127C>A)
c.332C>A
c.1041C>A (p.Tyr347Ter)
c.3084C>A (p.Tyr1028Ter)
c.3066C>A (p.Tyr1022Ter)
c.2904C>A (p.Tyr968Ter)
c.3012C>A (p.Tyr1004Ter)
c.2994C>A (p.Tyr998Ter)
c.2718C>A (p.Tyr906Ter)
n.3293C>A
c.2886C>A (p.Tyr962Ter)
c.2700C>A (p.Tyr900Ter)
n.3296C>A
c.2991C>A (p.Tyr997Ter)
c.3057C>A (p.Tyr1019Ter)
c.3009C>A (p.Tyr1003Ter)
c.2874C>A (p.Tyr958Ter)
c.2896-23C>A (n.2896-23C>A)
16g.28836100C=CA2215806937ATXN2Lc.3063C= (p.Tyr1021=)
c.1038C= (p.Tyr346=)
n.3437C=
c.258C= (p.Tyr86=)
c.3081C= (p.Tyr1027=)
c.2127C= (n.2127C=)
c.332C=
c.1041C= (p.Tyr347=)
c.3084C= (p.Tyr1028=)
c.3066C= (p.Tyr1022=)
c.2904C= (p.Tyr968=)
c.3012C= (p.Tyr1004=)
c.2994C= (p.Tyr998=)
c.2718C= (p.Tyr906=)
n.3293C=
c.2886C= (p.Tyr962=)
c.2700C= (p.Tyr900=)
n.3296C=
c.2991C= (p.Tyr997=)
c.3057C= (p.Tyr1019=)
c.3009C= (p.Tyr1003=)
c.2874C= (p.Tyr958=)
c.2896-23C= (n.2896-23C=)
16g.28836100C>GCA395409879ATXN2Lc.3063C>G (p.Tyr1021Ter)
c.1038C>G (p.Tyr346Ter)
n.3437C>G
c.258C>G (p.Tyr86Ter)
c.3081C>G (p.Tyr1027Ter)
c.2127C>G (n.2127C>G)
c.332C>G
c.1041C>G (p.Tyr347Ter)
c.3084C>G (p.Tyr1028Ter)
c.3066C>G (p.Tyr1022Ter)
c.2904C>G (p.Tyr968Ter)
c.3012C>G (p.Tyr1004Ter)
c.2994C>G (p.Tyr998Ter)
c.2718C>G (p.Tyr906Ter)
n.3293C>G
c.2886C>G (p.Tyr962Ter)
c.2700C>G (p.Tyr900Ter)
n.3296C>G
c.2991C>G (p.Tyr997Ter)
c.3057C>G (p.Tyr1019Ter)
c.3009C>G (p.Tyr1003Ter)
c.2874C>G (p.Tyr958Ter)
c.2896-23C>G (n.2896-23C>G)
16g.28836100C>TCA494868460ATXN2Lc.3063C>T (p.Tyr1021=)
c.1038C>T (p.Tyr346=)
n.3437C>T
c.258C>T (p.Tyr86=)
c.3081C>T (p.Tyr1027=)
c.2127C>T (n.2127C>T)
c.332C>T
c.1041C>T (p.Tyr347=)
c.3084C>T (p.Tyr1028=)
c.3066C>T (p.Tyr1022=)
c.2904C>T (p.Tyr968=)
c.3012C>T (p.Tyr1004=)
c.2994C>T (p.Tyr998=)
c.2718C>T (p.Tyr906=)
n.3293C>T
c.2886C>T (p.Tyr962=)
c.2700C>T (p.Tyr900=)
n.3296C>T
c.2991C>T (p.Tyr997=)
c.3057C>T (p.Tyr1019=)
c.3009C>T (p.Tyr1003=)
c.2874C>T (p.Tyr958=)
c.2896-23C>T (n.2896-23C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836101C>ACA395409881ATXN2Lc.3064C>A (p.Pro1022Thr)
c.1039C>A (p.Pro347Thr)
n.3438C>A
c.259C>A (p.Pro87Thr)
c.3082C>A (p.Pro1028Thr)
c.2128C>A (n.2128C>A)
c.333C>A
c.1042C>A (p.Pro348Thr)
c.3085C>A (p.Pro1029Thr)
c.3067C>A (p.Pro1023Thr)
c.2905C>A (p.Pro969Thr)
c.3013C>A (p.Pro1005Thr)
c.2995C>A (p.Pro999Thr)
c.2719C>A (p.Pro907Thr)
n.3294C>A
c.2887C>A (p.Pro963Thr)
c.2701C>A (p.Pro901Thr)
n.3297C>A
c.2992C>A (p.Pro998Thr)
c.3058C>A (p.Pro1020Thr)
c.3010C>A (p.Pro1004Thr)
c.2875C>A (p.Pro959Thr)
c.2896-22C>A (n.2896-22C>A)
16g.28836101C=CA2215806941ATXN2Lc.3064C= (p.Pro1022=)
c.1039C= (p.Pro347=)
n.3438C=
c.259C= (p.Pro87=)
c.3082C= (p.Pro1028=)
c.2128C= (n.2128C=)
c.333C=
c.1042C= (p.Pro348=)
c.3085C= (p.Pro1029=)
c.3067C= (p.Pro1023=)
c.2905C= (p.Pro969=)
c.3013C= (p.Pro1005=)
c.2995C= (p.Pro999=)
c.2719C= (p.Pro907=)
n.3294C=
c.2887C= (p.Pro963=)
c.2701C= (p.Pro901=)
n.3297C=
c.2992C= (p.Pro998=)
c.3058C= (p.Pro1020=)
c.3010C= (p.Pro1004=)
c.2875C= (p.Pro959=)
c.2896-22C= (n.2896-22C=)
16g.28836101C>GCA395409883ATXN2Lc.3064C>G (p.Pro1022Ala)
c.1039C>G (p.Pro347Ala)
n.3438C>G
c.259C>G (p.Pro87Ala)
c.3082C>G (p.Pro1028Ala)
c.2128C>G (n.2128C>G)
c.333C>G
c.1042C>G (p.Pro348Ala)
c.3085C>G (p.Pro1029Ala)
c.3067C>G (p.Pro1023Ala)
c.2905C>G (p.Pro969Ala)
c.3013C>G (p.Pro1005Ala)
c.2995C>G (p.Pro999Ala)
c.2719C>G (p.Pro907Ala)
n.3294C>G
c.2887C>G (p.Pro963Ala)
c.2701C>G (p.Pro901Ala)
n.3297C>G
c.2992C>G (p.Pro998Ala)
c.3058C>G (p.Pro1020Ala)
c.3010C>G (p.Pro1004Ala)
c.2875C>G (p.Pro959Ala)
c.2896-22C>G (n.2896-22C>G)
16g.28836101C>TCA7985169ATXN2Lc.3064C>T (p.Pro1022Ser)
c.1039C>T (p.Pro347Ser)
n.3438C>T
c.259C>T (p.Pro87Ser)
c.3082C>T (p.Pro1028Ser)
c.2128C>T (n.2128C>T)
c.333C>T
c.1042C>T (p.Pro348Ser)
c.3085C>T (p.Pro1029Ser)
c.3067C>T (p.Pro1023Ser)
c.2905C>T (p.Pro969Ser)
c.3013C>T (p.Pro1005Ser)
c.2995C>T (p.Pro999Ser)
c.2719C>T (p.Pro907Ser)
n.3294C>T
c.2887C>T (p.Pro963Ser)
c.2701C>T (p.Pro901Ser)
n.3297C>T
c.2992C>T (p.Pro998Ser)
c.3058C>T (p.Pro1020Ser)
c.3010C>T (p.Pro1004Ser)
c.2875C>T (p.Pro959Ser)
c.2896-22C>T (n.2896-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836102C>ACA395409886ATXN2Lc.3065C>A (p.Pro1022His)
c.1040C>A (p.Pro347His)
n.3439C>A
c.260C>A (p.Pro87His)
c.3083C>A (p.Pro1028His)
c.2129C>A (n.2129C>A)
c.334C>A
c.1043C>A (p.Pro348His)
c.3086C>A (p.Pro1029His)
c.3068C>A (p.Pro1023His)
c.2906C>A (p.Pro969His)
c.3014C>A (p.Pro1005His)
c.2996C>A (p.Pro999His)
c.2720C>A (p.Pro907His)
n.3295C>A
c.2888C>A (p.Pro963His)
c.2702C>A (p.Pro901His)
n.3298C>A
c.2993C>A (p.Pro998His)
c.3059C>A (p.Pro1020His)
c.3011C>A (p.Pro1004His)
c.2876C>A (p.Pro959His)
c.2896-21C>A (n.2896-21C>A)
16g.28836102C>GCA395409890ATXN2Lc.3065C>G (p.Pro1022Arg)
c.1040C>G (p.Pro347Arg)
n.3439C>G
c.260C>G (p.Pro87Arg)
c.3083C>G (p.Pro1028Arg)
c.2129C>G (n.2129C>G)
c.334C>G
c.1043C>G (p.Pro348Arg)
c.3086C>G (p.Pro1029Arg)
c.3068C>G (p.Pro1023Arg)
c.2906C>G (p.Pro969Arg)
c.3014C>G (p.Pro1005Arg)
c.2996C>G (p.Pro999Arg)
c.2720C>G (p.Pro907Arg)
n.3295C>G
c.2888C>G (p.Pro963Arg)
c.2702C>G (p.Pro901Arg)
n.3298C>G
c.2993C>G (p.Pro998Arg)
c.3059C>G (p.Pro1020Arg)
c.3011C>G (p.Pro1004Arg)
c.2876C>G (p.Pro959Arg)
c.2896-21C>G (n.2896-21C>G)
16g.28836102C>TCA395409889ATXN2Lc.3065C>T (p.Pro1022Leu)
c.1040C>T (p.Pro347Leu)
n.3439C>T
c.260C>T (p.Pro87Leu)
c.3083C>T (p.Pro1028Leu)
c.2129C>T (n.2129C>T)
c.334C>T
c.1043C>T (p.Pro348Leu)
c.3086C>T (p.Pro1029Leu)
c.3068C>T (p.Pro1023Leu)
c.2906C>T (p.Pro969Leu)
c.3014C>T (p.Pro1005Leu)
c.2996C>T (p.Pro999Leu)
c.2720C>T (p.Pro907Leu)
n.3295C>T
c.2888C>T (p.Pro963Leu)
c.2702C>T (p.Pro901Leu)
n.3298C>T
c.2993C>T (p.Pro998Leu)
c.3059C>T (p.Pro1020Leu)
c.3011C>T (p.Pro1004Leu)
c.2876C>T (p.Pro959Leu)
c.2896-21C>T (n.2896-21C>T)
 gnomAD v4
16g.28836103C>ACA279232140ATXN2Lc.3066C>A (p.Pro1022=)
c.1041C>A (p.Pro347=)
n.3440C>A
c.261C>A (p.Pro87=)
c.3084C>A (p.Pro1028=)
c.2130C>A (n.2130C>A)
c.335C>A
c.1044C>A (p.Pro348=)
c.3087C>A (p.Pro1029=)
c.3069C>A (p.Pro1023=)
c.2907C>A (p.Pro969=)
c.3015C>A (p.Pro1005=)
c.2997C>A (p.Pro999=)
c.2721C>A (p.Pro907=)
n.3296C>A
c.2889C>A (p.Pro963=)
c.2703C>A (p.Pro901=)
n.3299C>A
c.2994C>A (p.Pro998=)
c.3060C>A (p.Pro1020=)
c.3012C>A (p.Pro1004=)
c.2877C>A (p.Pro959=)
c.2896-20C>A (n.2896-20C>A)
 dbSNP
16g.28836103C=CA2215806943ATXN2Lc.3066C= (p.Pro1022=)
c.1041C= (p.Pro347=)
n.3440C=
c.261C= (p.Pro87=)
c.3084C= (p.Pro1028=)
c.2130C= (n.2130C=)
c.335C=
c.1044C= (p.Pro348=)
c.3087C= (p.Pro1029=)
c.3069C= (p.Pro1023=)
c.2907C= (p.Pro969=)
c.3015C= (p.Pro1005=)
c.2997C= (p.Pro999=)
c.2721C= (p.Pro907=)
n.3296C=
c.2889C= (p.Pro963=)
c.2703C= (p.Pro901=)
n.3299C=
c.2994C= (p.Pro998=)
c.3060C= (p.Pro1020=)
c.3012C= (p.Pro1004=)
c.2877C= (p.Pro959=)
c.2896-20C= (n.2896-20C=)
16g.28836103C>GCA494868489ATXN2Lc.3066C>G (p.Pro1022=)
c.1041C>G (p.Pro347=)
n.3440C>G
c.261C>G (p.Pro87=)
c.3084C>G (p.Pro1028=)
c.2130C>G (n.2130C>G)
c.335C>G
c.1044C>G (p.Pro348=)
c.3087C>G (p.Pro1029=)
c.3069C>G (p.Pro1023=)
c.2907C>G (p.Pro969=)
c.3015C>G (p.Pro1005=)
c.2997C>G (p.Pro999=)
c.2721C>G (p.Pro907=)
n.3296C>G
c.2889C>G (p.Pro963=)
c.2703C>G (p.Pro901=)
n.3299C>G
c.2994C>G (p.Pro998=)
c.3060C>G (p.Pro1020=)
c.3012C>G (p.Pro1004=)
c.2877C>G (p.Pro959=)
c.2896-20C>G (n.2896-20C>G)
16g.28836103C>TCA7985170ATXN2Lc.3066C>T (p.Pro1022=)
c.1041C>T (p.Pro347=)
n.3440C>T
c.261C>T (p.Pro87=)
c.3084C>T (p.Pro1028=)
c.2130C>T (n.2130C>T)
c.335C>T
c.1044C>T (p.Pro348=)
c.3087C>T (p.Pro1029=)
c.3069C>T (p.Pro1023=)
c.2907C>T (p.Pro969=)
c.3015C>T (p.Pro1005=)
c.2997C>T (p.Pro999=)
c.2721C>T (p.Pro907=)
n.3296C>T
c.2889C>T (p.Pro963=)
c.2703C>T (p.Pro901=)
n.3299C>T
c.2994C>T (p.Pro998=)
c.3060C>T (p.Pro1020=)
c.3012C>T (p.Pro1004=)
c.2877C>T (p.Pro959=)
c.2896-20C>T (n.2896-20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836104T>ACA395409895ATXN2Lc.3067T>A (p.Tyr1023Asn)
c.1042T>A (p.Tyr348Asn)
n.3441T>A
c.262T>A (p.Tyr88Asn)
c.3085T>A (p.Tyr1029Asn)
c.2131T>A (n.2131T>A)
c.336T>A
c.1045T>A (p.Tyr349Asn)
c.3088T>A (p.Tyr1030Asn)
c.3070T>A (p.Tyr1024Asn)
c.2908T>A (p.Tyr970Asn)
c.3016T>A (p.Tyr1006Asn)
c.2998T>A (p.Tyr1000Asn)
c.2722T>A (p.Tyr908Asn)
n.3297T>A
c.2890T>A (p.Tyr964Asn)
c.2704T>A (p.Tyr902Asn)
n.3300T>A
c.2995T>A (p.Tyr999Asn)
c.3061T>A (p.Tyr1021Asn)
c.3013T>A (p.Tyr1005Asn)
c.2878T>A (p.Tyr960Asn)
c.2896-19T>A (n.2896-19T>A)
16g.28836104T>CCA395409897ATXN2Lc.3067T>C (p.Tyr1023His)
c.1042T>C (p.Tyr348His)
n.3441T>C
c.262T>C (p.Tyr88His)
c.3085T>C (p.Tyr1029His)
c.2131T>C (n.2131T>C)
c.336T>C
c.1045T>C (p.Tyr349His)
c.3088T>C (p.Tyr1030His)
c.3070T>C (p.Tyr1024His)
c.2908T>C (p.Tyr970His)
c.3016T>C (p.Tyr1006His)
c.2998T>C (p.Tyr1000His)
c.2722T>C (p.Tyr908His)
n.3297T>C
c.2890T>C (p.Tyr964His)
c.2704T>C (p.Tyr902His)
n.3300T>C
c.2995T>C (p.Tyr999His)
c.3061T>C (p.Tyr1021His)
c.3013T>C (p.Tyr1005His)
c.2878T>C (p.Tyr960His)
c.2896-19T>C (n.2896-19T>C)
16g.28836104T>GCA395409902ATXN2Lc.3067T>G (p.Tyr1023Asp)
c.1042T>G (p.Tyr348Asp)
n.3441T>G
c.262T>G (p.Tyr88Asp)
c.3085T>G (p.Tyr1029Asp)
c.2131T>G (n.2131T>G)
c.336T>G
c.1045T>G (p.Tyr349Asp)
c.3088T>G (p.Tyr1030Asp)
c.3070T>G (p.Tyr1024Asp)
c.2908T>G (p.Tyr970Asp)
c.3016T>G (p.Tyr1006Asp)
c.2998T>G (p.Tyr1000Asp)
c.2722T>G (p.Tyr908Asp)
n.3297T>G
c.2890T>G (p.Tyr964Asp)
c.2704T>G (p.Tyr902Asp)
n.3300T>G
c.2995T>G (p.Tyr999Asp)
c.3061T>G (p.Tyr1021Asp)
c.3013T>G (p.Tyr1005Asp)
c.2878T>G (p.Tyr960Asp)
c.2896-19T>G (n.2896-19T>G)
16g.28836105A>CCA395409904ATXN2Lc.3068A>C (p.Tyr1023Ser)
c.1043A>C (p.Tyr348Ser)
n.3442A>C
c.263A>C (p.Tyr88Ser)
c.3086A>C (p.Tyr1029Ser)
c.2132A>C (n.2132A>C)
c.337A>C
c.1046A>C (p.Tyr349Ser)
c.3089A>C (p.Tyr1030Ser)
c.3071A>C (p.Tyr1024Ser)
c.2909A>C (p.Tyr970Ser)
c.3017A>C (p.Tyr1006Ser)
c.2999A>C (p.Tyr1000Ser)
c.2723A>C (p.Tyr908Ser)
n.3298A>C
c.2891A>C (p.Tyr964Ser)
c.2705A>C (p.Tyr902Ser)
n.3301A>C
c.2996A>C (p.Tyr999Ser)
c.3062A>C (p.Tyr1021Ser)
c.3014A>C (p.Tyr1005Ser)
c.2879A>C (p.Tyr960Ser)
c.2896-18A>C (n.2896-18A>C)
16g.28836105A>GCA395409907ATXN2Lc.3068A>G (p.Tyr1023Cys)
c.1043A>G (p.Tyr348Cys)
n.3442A>G
c.263A>G (p.Tyr88Cys)
c.3086A>G (p.Tyr1029Cys)
c.2132A>G (n.2132A>G)
c.337A>G
c.1046A>G (p.Tyr349Cys)
c.3089A>G (p.Tyr1030Cys)
c.3071A>G (p.Tyr1024Cys)
c.2909A>G (p.Tyr970Cys)
c.3017A>G (p.Tyr1006Cys)
c.2999A>G (p.Tyr1000Cys)
c.2723A>G (p.Tyr908Cys)
n.3298A>G
c.2891A>G (p.Tyr964Cys)
c.2705A>G (p.Tyr902Cys)
n.3301A>G
c.2996A>G (p.Tyr999Cys)
c.3062A>G (p.Tyr1021Cys)
c.3014A>G (p.Tyr1005Cys)
c.2879A>G (p.Tyr960Cys)
c.2896-18A>G (n.2896-18A>G)
16g.28836105A>TCA395409908ATXN2Lc.3068A>T (p.Tyr1023Phe)
c.1043A>T (p.Tyr348Phe)
n.3442A>T
c.263A>T (p.Tyr88Phe)
c.3086A>T (p.Tyr1029Phe)
c.2132A>T (n.2132A>T)
c.337A>T
c.1046A>T (p.Tyr349Phe)
c.3089A>T (p.Tyr1030Phe)
c.3071A>T (p.Tyr1024Phe)
c.2909A>T (p.Tyr970Phe)
c.3017A>T (p.Tyr1006Phe)
c.2999A>T (p.Tyr1000Phe)
c.2723A>T (p.Tyr908Phe)
n.3298A>T
c.2891A>T (p.Tyr964Phe)
c.2705A>T (p.Tyr902Phe)
n.3301A>T
c.2996A>T (p.Tyr999Phe)
c.3062A>T (p.Tyr1021Phe)
c.3014A>T (p.Tyr1005Phe)
c.2879A>T (p.Tyr960Phe)
c.2896-18A>T (n.2896-18A>T)
 gnomAD v4
16g.28836106C>ACA395409910ATXN2Lc.3069C>A (p.Tyr1023Ter)
c.1044C>A (p.Tyr348Ter)
n.3443C>A
c.264C>A (p.Tyr88Ter)
c.3087C>A (p.Tyr1029Ter)
c.2133C>A (n.2133C>A)
c.338C>A
c.1047C>A (p.Tyr349Ter)
c.3090C>A (p.Tyr1030Ter)
c.3072C>A (p.Tyr1024Ter)
c.2910C>A (p.Tyr970Ter)
c.3018C>A (p.Tyr1006Ter)
c.3000C>A (p.Tyr1000Ter)
c.2724C>A (p.Tyr908Ter)
n.3299C>A
c.2892C>A (p.Tyr964Ter)
c.2706C>A (p.Tyr902Ter)
n.3302C>A
c.2997C>A (p.Tyr999Ter)
c.3063C>A (p.Tyr1021Ter)
c.3015C>A (p.Tyr1005Ter)
c.2880C>A (p.Tyr960Ter)
c.2896-17C>A (n.2896-17C>A)
16g.28836106C=CA2215806947ATXN2Lc.3069C= (p.Tyr1023=)
c.1044C= (p.Tyr348=)
n.3443C=
c.264C= (p.Tyr88=)
c.3087C= (p.Tyr1029=)
c.2133C= (n.2133C=)
c.338C=
c.1047C= (p.Tyr349=)
c.3090C= (p.Tyr1030=)
c.3072C= (p.Tyr1024=)
c.2910C= (p.Tyr970=)
c.3018C= (p.Tyr1006=)
c.3000C= (p.Tyr1000=)
c.2724C= (p.Tyr908=)
n.3299C=
c.2892C= (p.Tyr964=)
c.2706C= (p.Tyr902=)
n.3302C=
c.2997C= (p.Tyr999=)
c.3063C= (p.Tyr1021=)
c.3015C= (p.Tyr1005=)
c.2880C= (p.Tyr960=)
c.2896-17C= (n.2896-17C=)
16g.28836106C>GCA395409911ATXN2Lc.3069C>G (p.Tyr1023Ter)
c.1044C>G (p.Tyr348Ter)
n.3443C>G
c.264C>G (p.Tyr88Ter)
c.3087C>G (p.Tyr1029Ter)
c.2133C>G (n.2133C>G)
c.338C>G
c.1047C>G (p.Tyr349Ter)
c.3090C>G (p.Tyr1030Ter)
c.3072C>G (p.Tyr1024Ter)
c.2910C>G (p.Tyr970Ter)
c.3018C>G (p.Tyr1006Ter)
c.3000C>G (p.Tyr1000Ter)
c.2724C>G (p.Tyr908Ter)
n.3299C>G
c.2892C>G (p.Tyr964Ter)
c.2706C>G (p.Tyr902Ter)
n.3302C>G
c.2997C>G (p.Tyr999Ter)
c.3063C>G (p.Tyr1021Ter)
c.3015C>G (p.Tyr1005Ter)
c.2880C>G (p.Tyr960Ter)
c.2896-17C>G (n.2896-17C>G)
16g.28836106C>TCA494868515ATXN2Lc.3069C>T (p.Tyr1023=)
c.1044C>T (p.Tyr348=)
n.3443C>T
c.264C>T (p.Tyr88=)
c.3087C>T (p.Tyr1029=)
c.2133C>T (n.2133C>T)
c.338C>T
c.1047C>T (p.Tyr349=)
c.3090C>T (p.Tyr1030=)
c.3072C>T (p.Tyr1024=)
c.2910C>T (p.Tyr970=)
c.3018C>T (p.Tyr1006=)
c.3000C>T (p.Tyr1000=)
c.2724C>T (p.Tyr908=)
n.3299C>T
c.2892C>T (p.Tyr964=)
c.2706C>T (p.Tyr902=)
n.3302C>T
c.2997C>T (p.Tyr999=)
c.3063C>T (p.Tyr1021=)
c.3015C>T (p.Tyr1005=)
c.2880C>T (p.Tyr960=)
c.2896-17C>T (n.2896-17C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836107A=CA2215806950ATXN2Lc.3070A= (p.Ile1024=)
c.1045A= (p.Ile349=)
n.3444A=
c.265A= (p.Ile89=)
c.3088A= (p.Ile1030=)
c.2134A= (n.2134A=)
c.339A=
c.1048A= (p.Ile350=)
c.3091A= (p.Ile1031=)
c.3073A= (p.Ile1025=)
c.2911A= (p.Ile971=)
c.3019A= (p.Ile1007=)
c.3001A= (p.Ile1001=)
c.2725A= (p.Ile909=)
n.3300A=
c.2893A= (p.Ile965=)
c.2707A= (p.Ile903=)
n.3303A=
c.2998A= (p.Ile1000=)
c.3064A= (p.Ile1022=)
c.3016A= (p.Ile1006=)
c.2881A= (p.Ile961=)
c.2896-16A= (n.2896-16A=)
16g.28836107A>CCA395409914ATXN2Lc.3070A>C (p.Ile1024Leu)
c.1045A>C (p.Ile349Leu)
n.3444A>C
c.265A>C (p.Ile89Leu)
c.3088A>C (p.Ile1030Leu)
c.2134A>C (n.2134A>C)
c.339A>C
c.1048A>C (p.Ile350Leu)
c.3091A>C (p.Ile1031Leu)
c.3073A>C (p.Ile1025Leu)
c.2911A>C (p.Ile971Leu)
c.3019A>C (p.Ile1007Leu)
c.3001A>C (p.Ile1001Leu)
c.2725A>C (p.Ile909Leu)
n.3300A>C
c.2893A>C (p.Ile965Leu)
c.2707A>C (p.Ile903Leu)
n.3303A>C
c.2998A>C (p.Ile1000Leu)
c.3064A>C (p.Ile1022Leu)
c.3016A>C (p.Ile1006Leu)
c.2881A>C (p.Ile961Leu)
c.2896-16A>C (n.2896-16A>C)
16g.28836107A>GCA395409916ATXN2Lc.3070A>G (p.Ile1024Val)
c.1045A>G (p.Ile349Val)
n.3444A>G
c.265A>G (p.Ile89Val)
c.3088A>G (p.Ile1030Val)
c.2134A>G (n.2134A>G)
c.339A>G
c.1048A>G (p.Ile350Val)
c.3091A>G (p.Ile1031Val)
c.3073A>G (p.Ile1025Val)
c.2911A>G (p.Ile971Val)
c.3019A>G (p.Ile1007Val)
c.3001A>G (p.Ile1001Val)
c.2725A>G (p.Ile909Val)
n.3300A>G
c.2893A>G (p.Ile965Val)
c.2707A>G (p.Ile903Val)
n.3303A>G
c.2998A>G (p.Ile1000Val)
c.3064A>G (p.Ile1022Val)
c.3016A>G (p.Ile1006Val)
c.2881A>G (p.Ile961Val)
c.2896-16A>G (n.2896-16A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836107A>TCA395409915ATXN2Lc.3070A>T (p.Ile1024Phe)
c.1045A>T (p.Ile349Phe)
n.3444A>T
c.265A>T (p.Ile89Phe)
c.3088A>T (p.Ile1030Phe)
c.2134A>T (n.2134A>T)
c.339A>T
c.1048A>T (p.Ile350Phe)
c.3091A>T (p.Ile1031Phe)
c.3073A>T (p.Ile1025Phe)
c.2911A>T (p.Ile971Phe)
c.3019A>T (p.Ile1007Phe)
c.3001A>T (p.Ile1001Phe)
c.2725A>T (p.Ile909Phe)
n.3300A>T
c.2893A>T (p.Ile965Phe)
c.2707A>T (p.Ile903Phe)
n.3303A>T
c.2998A>T (p.Ile1000Phe)
c.3064A>T (p.Ile1022Phe)
c.3016A>T (p.Ile1006Phe)
c.2881A>T (p.Ile961Phe)
c.2896-16A>T (n.2896-16A>T)
16g.28836108T>ACA395409918ATXN2Lc.3071T>A (p.Ile1024Asn)
c.1046T>A (p.Ile349Asn)
n.3445T>A
c.266T>A (p.Ile89Asn)
c.3089T>A (p.Ile1030Asn)
c.2135T>A (n.2135T>A)
c.340T>A
c.1049T>A (p.Ile350Asn)
c.3092T>A (p.Ile1031Asn)
c.3074T>A (p.Ile1025Asn)
c.2912T>A (p.Ile971Asn)
c.3020T>A (p.Ile1007Asn)
c.3002T>A (p.Ile1001Asn)
c.2726T>A (p.Ile909Asn)
n.3301T>A
c.2894T>A (p.Ile965Asn)
c.2708T>A (p.Ile903Asn)
n.3304T>A
c.2999T>A (p.Ile1000Asn)
c.3065T>A (p.Ile1022Asn)
c.3017T>A (p.Ile1006Asn)
c.2882T>A (p.Ile961Asn)
c.2896-15T>A (n.2896-15T>A)
16g.28836108T>CCA395409921ATXN2Lc.3071T>C (p.Ile1024Thr)
c.1046T>C (p.Ile349Thr)
n.3445T>C
c.266T>C (p.Ile89Thr)
c.3089T>C (p.Ile1030Thr)
c.2135T>C (n.2135T>C)
c.340T>C
c.1049T>C (p.Ile350Thr)
c.3092T>C (p.Ile1031Thr)
c.3074T>C (p.Ile1025Thr)
c.2912T>C (p.Ile971Thr)
c.3020T>C (p.Ile1007Thr)
c.3002T>C (p.Ile1001Thr)
c.2726T>C (p.Ile909Thr)
n.3301T>C
c.2894T>C (p.Ile965Thr)
c.2708T>C (p.Ile903Thr)
n.3304T>C
c.2999T>C (p.Ile1000Thr)
c.3065T>C (p.Ile1022Thr)
c.3017T>C (p.Ile1006Thr)
c.2882T>C (p.Ile961Thr)
c.2896-15T>C (n.2896-15T>C)
 gnomAD v4
16g.28836108T>GCA395409919ATXN2Lc.3071T>G (p.Ile1024Ser)
c.1046T>G (p.Ile349Ser)
n.3445T>G
c.266T>G (p.Ile89Ser)
c.3089T>G (p.Ile1030Ser)
c.2135T>G (n.2135T>G)
c.340T>G
c.1049T>G (p.Ile350Ser)
c.3092T>G (p.Ile1031Ser)
c.3074T>G (p.Ile1025Ser)
c.2912T>G (p.Ile971Ser)
c.3020T>G (p.Ile1007Ser)
c.3002T>G (p.Ile1001Ser)
c.2726T>G (p.Ile909Ser)
n.3301T>G
c.2894T>G (p.Ile965Ser)
c.2708T>G (p.Ile903Ser)
n.3304T>G
c.2999T>G (p.Ile1000Ser)
c.3065T>G (p.Ile1022Ser)
c.3017T>G (p.Ile1006Ser)
c.2882T>G (p.Ile961Ser)
c.2896-15T>G (n.2896-15T>G)
16g.28836109C>ACA494868534ATXN2Lc.3072C>A (p.Ile1024=)
c.1047C>A (p.Ile349=)
n.3446C>A
c.267C>A (p.Ile89=)
c.3090C>A (p.Ile1030=)
c.2136C>A (n.2136C>A)
c.341C>A
c.1050C>A (p.Ile350=)
c.3093C>A (p.Ile1031=)
c.3075C>A (p.Ile1025=)
c.2913C>A (p.Ile971=)
c.3021C>A (p.Ile1007=)
c.3003C>A (p.Ile1001=)
c.2727C>A (p.Ile909=)
n.3302C>A
c.2895C>A (p.Ile965=)
c.2709C>A (p.Ile903=)
n.3305C>A
c.3000C>A (p.Ile1000=)
c.3066C>A (p.Ile1022=)
c.3018C>A (p.Ile1006=)
c.2883C>A (p.Ile961=)
c.2896-14C>A (n.2896-14C>A)
16g.28836109C=CA2215806955ATXN2Lc.3072C= (p.Ile1024=)
c.1047C= (p.Ile349=)
n.3446C=
c.267C= (p.Ile89=)
c.3090C= (p.Ile1030=)
c.2136C= (n.2136C=)
c.341C=
c.1050C= (p.Ile350=)
c.3093C= (p.Ile1031=)
c.3075C= (p.Ile1025=)
c.2913C= (p.Ile971=)
c.3021C= (p.Ile1007=)
c.3003C= (p.Ile1001=)
c.2727C= (p.Ile909=)
n.3302C=
c.2895C= (p.Ile965=)
c.2709C= (p.Ile903=)
n.3305C=
c.3000C= (p.Ile1000=)
c.3066C= (p.Ile1022=)
c.3018C= (p.Ile1006=)
c.2883C= (p.Ile961=)
c.2896-14C= (n.2896-14C=)
16g.28836109C>GCA395409923ATXN2Lc.3072C>G (p.Ile1024Met)
c.1047C>G (p.Ile349Met)
n.3446C>G
c.267C>G (p.Ile89Met)
c.3090C>G (p.Ile1030Met)
c.2136C>G (n.2136C>G)
c.341C>G
c.1050C>G (p.Ile350Met)
c.3093C>G (p.Ile1031Met)
c.3075C>G (p.Ile1025Met)
c.2913C>G (p.Ile971Met)
c.3021C>G (p.Ile1007Met)
c.3003C>G (p.Ile1001Met)
c.2727C>G (p.Ile909Met)
n.3302C>G
c.2895C>G (p.Ile965Met)
c.2709C>G (p.Ile903Met)
n.3305C>G
c.3000C>G (p.Ile1000Met)
c.3066C>G (p.Ile1022Met)
c.3018C>G (p.Ile1006Met)
c.2883C>G (p.Ile961Met)
c.2896-14C>G (n.2896-14C>G)
16g.28836109C>TCA7985171ATXN2Lc.3072C>T (p.Ile1024=)
c.1047C>T (p.Ile349=)
n.3446C>T
c.267C>T (p.Ile89=)
c.3090C>T (p.Ile1030=)
c.2136C>T (n.2136C>T)
c.341C>T
c.1050C>T (p.Ile350=)
c.3093C>T (p.Ile1031=)
c.3075C>T (p.Ile1025=)
c.2913C>T (p.Ile971=)
c.3021C>T (p.Ile1007=)
c.3003C>T (p.Ile1001=)
c.2727C>T (p.Ile909=)
n.3302C>T
c.2895C>T (p.Ile965=)
c.2709C>T (p.Ile903=)
n.3305C>T
c.3000C>T (p.Ile1000=)
c.3066C>T (p.Ile1022=)
c.3018C>T (p.Ile1006=)
c.2883C>T (p.Ile961=)
c.2896-14C>T (n.2896-14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836110G>ACA7985172ATXN2Lc.3073G>A (p.Gly1025Arg)
c.1048G>A (p.Gly350Arg)
n.3447G>A
c.268G>A (p.Gly90Arg)
c.3091G>A (p.Gly1031Arg)
c.2137G>A (n.2137G>A)
c.342G>A
c.1051G>A (p.Gly351Arg)
c.3094G>A (p.Gly1032Arg)
c.3076G>A (p.Gly1026Arg)
c.2914G>A (p.Gly972Arg)
c.3022G>A (p.Gly1008Arg)
c.3004G>A (p.Gly1002Arg)
c.2728G>A (p.Gly910Arg)
n.3303G>A
c.2896G>A (p.Gly966Arg)
c.2710G>A (p.Gly904Arg)
n.3306G>A
c.3001G>A (p.Gly1001Arg)
c.3067G>A (p.Gly1023Arg)
c.3019G>A (p.Gly1007Arg)
c.2884G>A (p.Gly962Arg)
c.2896-13G>A (n.2896-13G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836110G>CCA395409926ATXN2Lc.3073G>C (p.Gly1025Arg)
c.1048G>C (p.Gly350Arg)
n.3447G>C
c.268G>C (p.Gly90Arg)
c.3091G>C (p.Gly1031Arg)
c.2137G>C (n.2137G>C)
c.342G>C
c.1051G>C (p.Gly351Arg)
c.3094G>C (p.Gly1032Arg)
c.3076G>C (p.Gly1026Arg)
c.2914G>C (p.Gly972Arg)
c.3022G>C (p.Gly1008Arg)
c.3004G>C (p.Gly1002Arg)
c.2728G>C (p.Gly910Arg)
n.3303G>C
c.2896G>C (p.Gly966Arg)
c.2710G>C (p.Gly904Arg)
n.3306G>C
c.3001G>C (p.Gly1001Arg)
c.3067G>C (p.Gly1023Arg)
c.3019G>C (p.Gly1007Arg)
c.2884G>C (p.Gly962Arg)
c.2896-13G>C (n.2896-13G>C)
16g.28836110G=CA2215806960ATXN2Lc.3073G= (p.Gly1025=)
c.1048G= (p.Gly350=)
n.3447G=
c.268G= (p.Gly90=)
c.3091G= (p.Gly1031=)
c.2137G= (n.2137G=)
c.342G=
c.1051G= (p.Gly351=)
c.3094G= (p.Gly1032=)
c.3076G= (p.Gly1026=)
c.2914G= (p.Gly972=)
c.3022G= (p.Gly1008=)
c.3004G= (p.Gly1002=)
c.2728G= (p.Gly910=)
n.3303G=
c.2896G= (p.Gly966=)
c.2710G= (p.Gly904=)
n.3306G=
c.3001G= (p.Gly1001=)
c.3067G= (p.Gly1023=)
c.3019G= (p.Gly1007=)
c.2884G= (p.Gly962=)
c.2896-13G= (n.2896-13G=)
16g.28836110G>TCA395409928ATXN2Lc.3073G>T (p.Gly1025Ter)
c.1048G>T (p.Gly350Ter)
n.3447G>T
c.268G>T (p.Gly90Ter)
c.3091G>T (p.Gly1031Ter)
c.2137G>T (n.2137G>T)
c.342G>T
c.1051G>T (p.Gly351Ter)
c.3094G>T (p.Gly1032Ter)
c.3076G>T (p.Gly1026Ter)
c.2914G>T (p.Gly972Ter)
c.3022G>T (p.Gly1008Ter)
c.3004G>T (p.Gly1002Ter)
c.2728G>T (p.Gly910Ter)
n.3303G>T
c.2896G>T (p.Gly966Ter)
c.2710G>T (p.Gly904Ter)
n.3306G>T
c.3001G>T (p.Gly1001Ter)
c.3067G>T (p.Gly1023Ter)
c.3019G>T (p.Gly1007Ter)
c.2884G>T (p.Gly962Ter)
c.2896-13G>T (n.2896-13G>T)
16g.28836111G>ACA395409930ATXN2Lc.3074G>A (p.Gly1025Glu)
c.1049G>A (p.Gly350Glu)
n.3448G>A
c.269G>A (p.Gly90Glu)
c.3092G>A (p.Gly1031Glu)
c.2138G>A (n.2138G>A)
c.343G>A
c.1052G>A (p.Gly351Glu)
c.3095G>A (p.Gly1032Glu)
c.3077G>A (p.Gly1026Glu)
c.2915G>A (p.Gly972Glu)
c.3023G>A (p.Gly1008Glu)
c.3005G>A (p.Gly1002Glu)
c.2729G>A (p.Gly910Glu)
n.3304G>A
c.2897G>A (p.Gly966Glu)
c.2711G>A (p.Gly904Glu)
n.3307G>A
c.3002G>A (p.Gly1001Glu)
c.3068G>A (p.Gly1023Glu)
c.3020G>A (p.Gly1007Glu)
c.2885G>A (p.Gly962Glu)
c.2896-12G>A (n.2896-12G>A)
16g.28836111G>CCA395409933ATXN2Lc.3074G>C (p.Gly1025Ala)
c.1049G>C (p.Gly350Ala)
n.3448G>C
c.269G>C (p.Gly90Ala)
c.3092G>C (p.Gly1031Ala)
c.2138G>C (n.2138G>C)
c.343G>C
c.1052G>C (p.Gly351Ala)
c.3095G>C (p.Gly1032Ala)
c.3077G>C (p.Gly1026Ala)
c.2915G>C (p.Gly972Ala)
c.3023G>C (p.Gly1008Ala)
c.3005G>C (p.Gly1002Ala)
c.2729G>C (p.Gly910Ala)
n.3304G>C
c.2897G>C (p.Gly966Ala)
c.2711G>C (p.Gly904Ala)
n.3307G>C
c.3002G>C (p.Gly1001Ala)
c.3068G>C (p.Gly1023Ala)
c.3020G>C (p.Gly1007Ala)
c.2885G>C (p.Gly962Ala)
c.2896-12G>C (n.2896-12G>C)
16g.28836111G>TCA395409934ATXN2Lc.3074G>T (p.Gly1025Val)
c.1049G>T (p.Gly350Val)
n.3448G>T
c.269G>T (p.Gly90Val)
c.3092G>T (p.Gly1031Val)
c.2138G>T (n.2138G>T)
c.343G>T
c.1052G>T (p.Gly351Val)
c.3095G>T (p.Gly1032Val)
c.3077G>T (p.Gly1026Val)
c.2915G>T (p.Gly972Val)
c.3023G>T (p.Gly1008Val)
c.3005G>T (p.Gly1002Val)
c.2729G>T (p.Gly910Val)
n.3304G>T
c.2897G>T (p.Gly966Val)
c.2711G>T (p.Gly904Val)
n.3307G>T
c.3002G>T (p.Gly1001Val)
c.3068G>T (p.Gly1023Val)
c.3020G>T (p.Gly1007Val)
c.2885G>T (p.Gly962Val)
c.2896-12G>T (n.2896-12G>T)
16g.28836112A>CCA494868594ATXN2Lc.3075A>C (p.Gly1025=)
c.1050A>C (p.Gly350=)
n.3449A>C
c.270A>C (p.Gly90=)
c.3093A>C (p.Gly1031=)
c.2139A>C (n.2139A>C)
c.344A>C
c.1053A>C (p.Gly351=)
c.3096A>C (p.Gly1032=)
c.3078A>C (p.Gly1026=)
c.2916A>C (p.Gly972=)
c.3024A>C (p.Gly1008=)
c.3006A>C (p.Gly1002=)
c.2730A>C (p.Gly910=)
n.3305A>C
c.2898A>C (p.Gly966=)
c.2712A>C (p.Gly904=)
n.3308A>C
c.3003A>C (p.Gly1001=)
c.3069A>C (p.Gly1023=)
c.3021A>C (p.Gly1007=)
c.2886A>C (p.Gly962=)
c.2896-11A>C (n.2896-11A>C)
16g.28836112A>GCA494868600ATXN2Lc.3075A>G (p.Gly1025=)
c.1050A>G (p.Gly350=)
n.3449A>G
c.270A>G (p.Gly90=)
c.3093A>G (p.Gly1031=)
c.2139A>G (n.2139A>G)
c.344A>G
c.1053A>G (p.Gly351=)
c.3096A>G (p.Gly1032=)
c.3078A>G (p.Gly1026=)
c.2916A>G (p.Gly972=)
c.3024A>G (p.Gly1008=)
c.3006A>G (p.Gly1002=)
c.2730A>G (p.Gly910=)
n.3305A>G
c.2898A>G (p.Gly966=)
c.2712A>G (p.Gly904=)
n.3308A>G
c.3003A>G (p.Gly1001=)
c.3069A>G (p.Gly1023=)
c.3021A>G (p.Gly1007=)
c.2886A>G (p.Gly962=)
c.2896-11A>G (n.2896-11A>G)
16g.28836112A>TCA494868603ATXN2Lc.3075A>T (p.Gly1025=)
c.1050A>T (p.Gly350=)
n.3449A>T
c.270A>T (p.Gly90=)
c.3093A>T (p.Gly1031=)
c.2139A>T (n.2139A>T)
c.344A>T
c.1053A>T (p.Gly351=)
c.3096A>T (p.Gly1032=)
c.3078A>T (p.Gly1026=)
c.2916A>T (p.Gly972=)
c.3024A>T (p.Gly1008=)
c.3006A>T (p.Gly1002=)
c.2730A>T (p.Gly910=)
n.3305A>T
c.2898A>T (p.Gly966=)
c.2712A>T (p.Gly904=)
n.3308A>T
c.3003A>T (p.Gly1001=)
c.3069A>T (p.Gly1023=)
c.3021A>T (p.Gly1007=)
c.2886A>T (p.Gly962=)
c.2896-11A>T (n.2896-11A>T)
16g.28836113C>ACA395409937ATXN2Lc.3076C>A (p.His1026Asn)
c.1051C>A (p.His351Asn)
n.3450C>A
c.271C>A (p.His91Asn)
c.3094C>A (p.His1032Asn)
c.2140C>A (n.2140C>A)
c.345C>A
c.1054C>A (p.His352Asn)
c.3097C>A (p.His1033Asn)
c.3079C>A (p.His1027Asn)
c.2917C>A (p.His973Asn)
c.3025C>A (p.His1009Asn)
c.3007C>A (p.His1003Asn)
c.2731C>A (p.His911Asn)
n.3306C>A
c.2899C>A (p.His967Asn)
c.2713C>A (p.His905Asn)
n.3309C>A
c.3004C>A (p.His1002Asn)
c.3070C>A (p.His1024Asn)
c.3022C>A (p.His1008Asn)
c.2887C>A (p.His963Asn)
c.2896-10C>A (n.2896-10C>A)
16g.28836113C=CA2215806962ATXN2Lc.3076C= (p.His1026=)
c.1051C= (p.His351=)
n.3450C=
c.271C= (p.His91=)
c.3094C= (p.His1032=)
c.2140C= (n.2140C=)
c.345C=
c.1054C= (p.His352=)
c.3097C= (p.His1033=)
c.3079C= (p.His1027=)
c.2917C= (p.His973=)
c.3025C= (p.His1009=)
c.3007C= (p.His1003=)
c.2731C= (p.His911=)
n.3306C=
c.2899C= (p.His967=)
c.2713C= (p.His905=)
n.3309C=
c.3004C= (p.His1002=)
c.3070C= (p.His1024=)
c.3022C= (p.His1008=)
c.2887C= (p.His963=)
c.2896-10C= (n.2896-10C=)
16g.28836113C>GCA395409938ATXN2Lc.3076C>G (p.His1026Asp)
c.1051C>G (p.His351Asp)
n.3450C>G
c.271C>G (p.His91Asp)
c.3094C>G (p.His1032Asp)
c.2140C>G (n.2140C>G)
c.345C>G
c.1054C>G (p.His352Asp)
c.3097C>G (p.His1033Asp)
c.3079C>G (p.His1027Asp)
c.2917C>G (p.His973Asp)
c.3025C>G (p.His1009Asp)
c.3007C>G (p.His1003Asp)
c.2731C>G (p.His911Asp)
n.3306C>G
c.2899C>G (p.His967Asp)
c.2713C>G (p.His905Asp)
n.3309C>G
c.3004C>G (p.His1002Asp)
c.3070C>G (p.His1024Asp)
c.3022C>G (p.His1008Asp)
c.2887C>G (p.His963Asp)
c.2896-10C>G (n.2896-10C>G)
16g.28836113C>TCA395409942ATXN2Lc.3076C>T (p.His1026Tyr)
c.1051C>T (p.His351Tyr)
n.3450C>T
c.271C>T (p.His91Tyr)
c.3094C>T (p.His1032Tyr)
c.2140C>T (n.2140C>T)
c.345C>T
c.1054C>T (p.His352Tyr)
c.3097C>T (p.His1033Tyr)
c.3079C>T (p.His1027Tyr)
c.2917C>T (p.His973Tyr)
c.3025C>T (p.His1009Tyr)
c.3007C>T (p.His1003Tyr)
c.2731C>T (p.His911Tyr)
n.3306C>T
c.2899C>T (p.His967Tyr)
c.2713C>T (p.His905Tyr)
n.3309C>T
c.3004C>T (p.His1002Tyr)
c.3070C>T (p.His1024Tyr)
c.3022C>T (p.His1008Tyr)
c.2887C>T (p.His963Tyr)
c.2896-10C>T (n.2896-10C>T)
 dbSNP gnomAD v4
16g.28836114A>CCA395409945ATXN2Lc.3077A>C (p.His1026Pro)
c.1052A>C (p.His351Pro)
n.3451A>C
c.272A>C (p.His91Pro)
c.3095A>C (p.His1032Pro)
c.2141A>C (n.2141A>C)
c.346A>C
c.1055A>C (p.His352Pro)
c.3098A>C (p.His1033Pro)
c.3080A>C (p.His1027Pro)
c.2918A>C (p.His973Pro)
c.3026A>C (p.His1009Pro)
c.3008A>C (p.His1003Pro)
c.2732A>C (p.His911Pro)
n.3307A>C
c.2900A>C (p.His967Pro)
c.2714A>C (p.His905Pro)
n.3310A>C
c.3005A>C (p.His1002Pro)
c.3071A>C (p.His1024Pro)
c.3023A>C (p.His1008Pro)
c.2888A>C (p.His963Pro)
c.2896-9A>C (n.2896-9A>C)
16g.28836114A>GCA395409947ATXN2Lc.3077A>G (p.His1026Arg)
c.1052A>G (p.His351Arg)
n.3451A>G
c.272A>G (p.His91Arg)
c.3095A>G (p.His1032Arg)
c.2141A>G (n.2141A>G)
c.346A>G
c.1055A>G (p.His352Arg)
c.3098A>G (p.His1033Arg)
c.3080A>G (p.His1027Arg)
c.2918A>G (p.His973Arg)
c.3026A>G (p.His1009Arg)
c.3008A>G (p.His1003Arg)
c.2732A>G (p.His911Arg)
n.3307A>G
c.2900A>G (p.His967Arg)
c.2714A>G (p.His905Arg)
n.3310A>G
c.3005A>G (p.His1002Arg)
c.3071A>G (p.His1024Arg)
c.3023A>G (p.His1008Arg)
c.2888A>G (p.His963Arg)
c.2896-9A>G (n.2896-9A>G)
16g.28836114A>TCA395409946ATXN2Lc.3077A>T (p.His1026Leu)
c.1052A>T (p.His351Leu)
n.3451A>T
c.272A>T (p.His91Leu)
c.3095A>T (p.His1032Leu)
c.2141A>T (n.2141A>T)
c.346A>T
c.1055A>T (p.His352Leu)
c.3098A>T (p.His1033Leu)
c.3080A>T (p.His1027Leu)
c.2918A>T (p.His973Leu)
c.3026A>T (p.His1009Leu)
c.3008A>T (p.His1003Leu)
c.2732A>T (p.His911Leu)
n.3307A>T
c.2900A>T (p.His967Leu)
c.2714A>T (p.His905Leu)
n.3310A>T
c.3005A>T (p.His1002Leu)
c.3071A>T (p.His1024Leu)
c.3023A>T (p.His1008Leu)
c.2888A>T (p.His963Leu)
c.2896-9A>T (n.2896-9A>T)
16g.28836115C>ACA395409950ATXN2Lc.3078C>A (p.His1026Gln)
c.1053C>A (p.His351Gln)
n.3452C>A
c.273C>A (p.His91Gln)
c.3096C>A (p.His1032Gln)
c.2142C>A (n.2142C>A)
c.347C>A
c.1056C>A (p.His352Gln)
c.3099C>A (p.His1033Gln)
c.3081C>A (p.His1027Gln)
c.2919C>A (p.His973Gln)
c.3027C>A (p.His1009Gln)
c.3009C>A (p.His1003Gln)
c.2733C>A (p.His911Gln)
n.3308C>A
c.2901C>A (p.His967Gln)
c.2715C>A (p.His905Gln)
n.3311C>A
c.3006C>A (p.His1002Gln)
c.3072C>A (p.His1024Gln)
c.3024C>A (p.His1008Gln)
c.2889C>A (p.His963Gln)
c.2896-8C>A (n.2896-8C>A)
16g.28836115C=CA2215806969ATXN2Lc.3078C= (p.His1026=)
c.1053C= (p.His351=)
n.3452C=
c.273C= (p.His91=)
c.3096C= (p.His1032=)
c.2142C= (n.2142C=)
c.347C=
c.1056C= (p.His352=)
c.3099C= (p.His1033=)
c.3081C= (p.His1027=)
c.2919C= (p.His973=)
c.3027C= (p.His1009=)
c.3009C= (p.His1003=)
c.2733C= (p.His911=)
n.3308C=
c.2901C= (p.His967=)
c.2715C= (p.His905=)
n.3311C=
c.3006C= (p.His1002=)
c.3072C= (p.His1024=)
c.3024C= (p.His1008=)
c.2889C= (p.His963=)
c.2896-8C= (n.2896-8C=)
16g.28836115C>GCA395409952ATXN2Lc.3078C>G (p.His1026Gln)
c.1053C>G (p.His351Gln)
n.3452C>G
c.273C>G (p.His91Gln)
c.3096C>G (p.His1032Gln)
c.2142C>G (n.2142C>G)
c.347C>G
c.1056C>G (p.His352Gln)
c.3099C>G (p.His1033Gln)
c.3081C>G (p.His1027Gln)
c.2919C>G (p.His973Gln)
c.3027C>G (p.His1009Gln)
c.3009C>G (p.His1003Gln)
c.2733C>G (p.His911Gln)
n.3308C>G
c.2901C>G (p.His967Gln)
c.2715C>G (p.His905Gln)
n.3311C>G
c.3006C>G (p.His1002Gln)
c.3072C>G (p.His1024Gln)
c.3024C>G (p.His1008Gln)
c.2889C>G (p.His963Gln)
c.2896-8C>G (n.2896-8C>G)
 gnomAD v4
16g.28836115C>TCA494868629ATXN2Lc.3078C>T (p.His1026=)
c.1053C>T (p.His351=)
n.3452C>T
c.273C>T (p.His91=)
c.3096C>T (p.His1032=)
c.2142C>T (n.2142C>T)
c.347C>T
c.1056C>T (p.His352=)
c.3099C>T (p.His1033=)
c.3081C>T (p.His1027=)
c.2919C>T (p.His973=)
c.3027C>T (p.His1009=)
c.3009C>T (p.His1003=)
c.2733C>T (p.His911=)
n.3308C>T
c.2901C>T (p.His967=)
c.2715C>T (p.His905=)
n.3311C>T
c.3006C>T (p.His1002=)
c.3072C>T (p.His1024=)
c.3024C>T (p.His1008=)
c.2889C>T (p.His963=)
c.2896-8C>T (n.2896-8C>T)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched