Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28835613G>ACA395408188ATXN2Lc.2750G>A (p.Gly917Glu)
c.725G>A (p.Gly242Glu)
n.3124G>A
c.2768G>A (p.Gly923Glu)
c.1814G>A (n.1814G>A)
c.19G>A
c.728G>A (p.Gly243Glu)
c.270G>A
c.2771G>A (p.Gly924Glu)
c.2753G>A (p.Gly918Glu)
c.2591G>A (p.Gly864Glu)
c.2699G>A (p.Gly900Glu)
c.2681G>A (p.Gly894Glu)
c.2405G>A (p.Gly802Glu)
n.2980G>A
c.2573G>A (p.Gly858Glu)
c.2387G>A (p.Gly796Glu)
n.2983G>A
c.2678G>A (p.Gly893Glu)
c.2744G>A (p.Gly915Glu)
c.2696G>A (p.Gly899Glu)
c.2561G>A (p.Gly854Glu)
16g.28835613G>CCA395408189ATXN2Lc.2750G>C (p.Gly917Ala)
c.725G>C (p.Gly242Ala)
n.3124G>C
c.2768G>C (p.Gly923Ala)
c.1814G>C (n.1814G>C)
c.19G>C
c.728G>C (p.Gly243Ala)
c.270G>C
c.2771G>C (p.Gly924Ala)
c.2753G>C (p.Gly918Ala)
c.2591G>C (p.Gly864Ala)
c.2699G>C (p.Gly900Ala)
c.2681G>C (p.Gly894Ala)
c.2405G>C (p.Gly802Ala)
n.2980G>C
c.2573G>C (p.Gly858Ala)
c.2387G>C (p.Gly796Ala)
n.2983G>C
c.2678G>C (p.Gly893Ala)
c.2744G>C (p.Gly915Ala)
c.2696G>C (p.Gly899Ala)
c.2561G>C (p.Gly854Ala)
16g.28835613G=CA2215806306ATXN2Lc.2750G= (p.Gly917=)
c.725G= (p.Gly242=)
n.3124G=
c.2768G= (p.Gly923=)
c.1814G= (n.1814G=)
c.19G=
c.728G= (p.Gly243=)
c.270G=
c.2771G= (p.Gly924=)
c.2753G= (p.Gly918=)
c.2591G= (p.Gly864=)
c.2699G= (p.Gly900=)
c.2681G= (p.Gly894=)
c.2405G= (p.Gly802=)
n.2980G=
c.2573G= (p.Gly858=)
c.2387G= (p.Gly796=)
n.2983G=
c.2678G= (p.Gly893=)
c.2744G= (p.Gly915=)
c.2696G= (p.Gly899=)
c.2561G= (p.Gly854=)
16g.28835613G>TCA7985084ATXN2Lc.2750G>T (p.Gly917Val)
c.725G>T (p.Gly242Val)
n.3124G>T
c.2768G>T (p.Gly923Val)
c.1814G>T (n.1814G>T)
c.19G>T
c.728G>T (p.Gly243Val)
c.270G>T
c.2771G>T (p.Gly924Val)
c.2753G>T (p.Gly918Val)
c.2591G>T (p.Gly864Val)
c.2699G>T (p.Gly900Val)
c.2681G>T (p.Gly894Val)
c.2405G>T (p.Gly802Val)
n.2980G>T
c.2573G>T (p.Gly858Val)
c.2387G>T (p.Gly796Val)
n.2983G>T
c.2678G>T (p.Gly893Val)
c.2744G>T (p.Gly915Val)
c.2696G>T (p.Gly899Val)
c.2561G>T (p.Gly854Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835614G>ACA7985085ATXN2Lc.2751G>A (p.Gly917=)
c.726G>A (p.Gly242=)
n.3125G>A
c.2769G>A (p.Gly923=)
c.1815G>A (n.1815G>A)
c.20G>A
c.729G>A (p.Gly243=)
c.271G>A
c.2772G>A (p.Gly924=)
c.2754G>A (p.Gly918=)
c.2592G>A (p.Gly864=)
c.2700G>A (p.Gly900=)
c.2682G>A (p.Gly894=)
c.2406G>A (p.Gly802=)
n.2981G>A
c.2574G>A (p.Gly858=)
c.2388G>A (p.Gly796=)
n.2984G>A
c.2679G>A (p.Gly893=)
c.2745G>A (p.Gly915=)
c.2697G>A (p.Gly899=)
c.2562G>A (p.Gly854=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835614G>CCA494868544ATXN2Lc.2751G>C (p.Gly917=)
c.726G>C (p.Gly242=)
n.3125G>C
c.2769G>C (p.Gly923=)
c.1815G>C (n.1815G>C)
c.20G>C
c.729G>C (p.Gly243=)
c.271G>C
c.2772G>C (p.Gly924=)
c.2754G>C (p.Gly918=)
c.2592G>C (p.Gly864=)
c.2700G>C (p.Gly900=)
c.2682G>C (p.Gly894=)
c.2406G>C (p.Gly802=)
n.2981G>C
c.2574G>C (p.Gly858=)
c.2388G>C (p.Gly796=)
n.2984G>C
c.2679G>C (p.Gly893=)
c.2745G>C (p.Gly915=)
c.2697G>C (p.Gly899=)
c.2562G>C (p.Gly854=)
16g.28835614G=CA2215806308ATXN2Lc.2751G= (p.Gly917=)
c.726G= (p.Gly242=)
n.3125G=
c.2769G= (p.Gly923=)
c.1815G= (n.1815G=)
c.20G=
c.729G= (p.Gly243=)
c.271G=
c.2772G= (p.Gly924=)
c.2754G= (p.Gly918=)
c.2592G= (p.Gly864=)
c.2700G= (p.Gly900=)
c.2682G= (p.Gly894=)
c.2406G= (p.Gly802=)
n.2981G=
c.2574G= (p.Gly858=)
c.2388G= (p.Gly796=)
n.2984G=
c.2679G= (p.Gly893=)
c.2745G= (p.Gly915=)
c.2697G= (p.Gly899=)
c.2562G= (p.Gly854=)
16g.28835614G>TCA494868547ATXN2Lc.2751G>T (p.Gly917=)
c.726G>T (p.Gly242=)
n.3125G>T
c.2769G>T (p.Gly923=)
c.1815G>T (n.1815G>T)
c.20G>T
c.729G>T (p.Gly243=)
c.271G>T
c.2772G>T (p.Gly924=)
c.2754G>T (p.Gly918=)
c.2592G>T (p.Gly864=)
c.2700G>T (p.Gly900=)
c.2682G>T (p.Gly894=)
c.2406G>T (p.Gly802=)
n.2981G>T
c.2574G>T (p.Gly858=)
c.2388G>T (p.Gly796=)
n.2984G>T
c.2679G>T (p.Gly893=)
c.2745G>T (p.Gly915=)
c.2697G>T (p.Gly899=)
c.2562G>T (p.Gly854=)
16g.28835615G>ACA395408192ATXN2Lc.2752G>A (p.Ala918Thr)
c.727G>A (p.Ala243Thr)
n.3126G>A
c.2770G>A (p.Ala924Thr)
c.1816G>A (n.1816G>A)
c.21G>A
c.730G>A (p.Ala244Thr)
c.272G>A
c.2773G>A (p.Ala925Thr)
c.2755G>A (p.Ala919Thr)
c.2593G>A (p.Ala865Thr)
c.2701G>A (p.Ala901Thr)
c.2683G>A (p.Ala895Thr)
c.2407G>A (p.Ala803Thr)
n.2982G>A
c.2575G>A (p.Ala859Thr)
c.2389G>A (p.Ala797Thr)
n.2985G>A
c.2680G>A (p.Ala894Thr)
c.2746G>A (p.Ala916Thr)
c.2698G>A (p.Ala900Thr)
c.2563G>A (p.Ala855Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835615G>CCA395408194ATXN2Lc.2752G>C (p.Ala918Pro)
c.727G>C (p.Ala243Pro)
n.3126G>C
c.2770G>C (p.Ala924Pro)
c.1816G>C (n.1816G>C)
c.21G>C
c.730G>C (p.Ala244Pro)
c.272G>C
c.2773G>C (p.Ala925Pro)
c.2755G>C (p.Ala919Pro)
c.2593G>C (p.Ala865Pro)
c.2701G>C (p.Ala901Pro)
c.2683G>C (p.Ala895Pro)
c.2407G>C (p.Ala803Pro)
n.2982G>C
c.2575G>C (p.Ala859Pro)
c.2389G>C (p.Ala797Pro)
n.2985G>C
c.2680G>C (p.Ala894Pro)
c.2746G>C (p.Ala916Pro)
c.2698G>C (p.Ala900Pro)
c.2563G>C (p.Ala855Pro)
16g.28835615G=CA2215806310ATXN2Lc.2752G= (p.Ala918=)
c.727G= (p.Ala243=)
n.3126G=
c.2770G= (p.Ala924=)
c.1816G= (n.1816G=)
c.21G=
c.730G= (p.Ala244=)
c.272G=
c.2773G= (p.Ala925=)
c.2755G= (p.Ala919=)
c.2593G= (p.Ala865=)
c.2701G= (p.Ala901=)
c.2683G= (p.Ala895=)
c.2407G= (p.Ala803=)
n.2982G=
c.2575G= (p.Ala859=)
c.2389G= (p.Ala797=)
n.2985G=
c.2680G= (p.Ala894=)
c.2746G= (p.Ala916=)
c.2698G= (p.Ala900=)
c.2563G= (p.Ala855=)
16g.28835615G>TCA7985086ATXN2Lc.2752G>T (p.Ala918Ser)
c.727G>T (p.Ala243Ser)
n.3126G>T
c.2770G>T (p.Ala924Ser)
c.1816G>T (n.1816G>T)
c.21G>T
c.730G>T (p.Ala244Ser)
c.272G>T
c.2773G>T (p.Ala925Ser)
c.2755G>T (p.Ala919Ser)
c.2593G>T (p.Ala865Ser)
c.2701G>T (p.Ala901Ser)
c.2683G>T (p.Ala895Ser)
c.2407G>T (p.Ala803Ser)
n.2982G>T
c.2575G>T (p.Ala859Ser)
c.2389G>T (p.Ala797Ser)
n.2985G>T
c.2680G>T (p.Ala894Ser)
c.2746G>T (p.Ala916Ser)
c.2698G>T (p.Ala900Ser)
c.2563G>T (p.Ala855Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835616C>ACA395408201ATXN2Lc.2753C>A (p.Ala918Asp)
c.728C>A (p.Ala243Asp)
n.3127C>A
c.2771C>A (p.Ala924Asp)
c.1817C>A (n.1817C>A)
c.22C>A
c.731C>A (p.Ala244Asp)
c.273C>A
c.2774C>A (p.Ala925Asp)
c.2756C>A (p.Ala919Asp)
c.2594C>A (p.Ala865Asp)
c.2702C>A (p.Ala901Asp)
c.2684C>A (p.Ala895Asp)
c.2408C>A (p.Ala803Asp)
n.2983C>A
c.2576C>A (p.Ala859Asp)
c.2390C>A (p.Ala797Asp)
n.2986C>A
c.2681C>A (p.Ala894Asp)
c.2747C>A (p.Ala916Asp)
c.2699C>A (p.Ala900Asp)
c.2564C>A (p.Ala855Asp)
16g.28835616C>GCA395408199ATXN2Lc.2753C>G (p.Ala918Gly)
c.728C>G (p.Ala243Gly)
n.3127C>G
c.2771C>G (p.Ala924Gly)
c.1817C>G (n.1817C>G)
c.22C>G
c.731C>G (p.Ala244Gly)
c.273C>G
c.2774C>G (p.Ala925Gly)
c.2756C>G (p.Ala919Gly)
c.2594C>G (p.Ala865Gly)
c.2702C>G (p.Ala901Gly)
c.2684C>G (p.Ala895Gly)
c.2408C>G (p.Ala803Gly)
n.2983C>G
c.2576C>G (p.Ala859Gly)
c.2390C>G (p.Ala797Gly)
n.2986C>G
c.2681C>G (p.Ala894Gly)
c.2747C>G (p.Ala916Gly)
c.2699C>G (p.Ala900Gly)
c.2564C>G (p.Ala855Gly)
16g.28835616C>TCA395408197ATXN2Lc.2753C>T (p.Ala918Val)
c.728C>T (p.Ala243Val)
n.3127C>T
c.2771C>T (p.Ala924Val)
c.1817C>T (n.1817C>T)
c.22C>T
c.731C>T (p.Ala244Val)
c.273C>T
c.2774C>T (p.Ala925Val)
c.2756C>T (p.Ala919Val)
c.2594C>T (p.Ala865Val)
c.2702C>T (p.Ala901Val)
c.2684C>T (p.Ala895Val)
c.2408C>T (p.Ala803Val)
n.2983C>T
c.2576C>T (p.Ala859Val)
c.2390C>T (p.Ala797Val)
n.2986C>T
c.2681C>T (p.Ala894Val)
c.2747C>T (p.Ala916Val)
c.2699C>T (p.Ala900Val)
c.2564C>T (p.Ala855Val)
 gnomAD v4
16g.28835617C>ACA494868568ATXN2Lc.2754C>A (p.Ala918=)
c.729C>A (p.Ala243=)
n.3128C>A
c.2772C>A (p.Ala924=)
c.1818C>A (n.1818C>A)
c.23C>A
c.732C>A (p.Ala244=)
c.274C>A
c.2775C>A (p.Ala925=)
c.2757C>A (p.Ala919=)
c.2595C>A (p.Ala865=)
c.2703C>A (p.Ala901=)
c.2685C>A (p.Ala895=)
c.2409C>A (p.Ala803=)
n.2984C>A
c.2577C>A (p.Ala859=)
c.2391C>A (p.Ala797=)
n.2987C>A
c.2682C>A (p.Ala894=)
c.2748C>A (p.Ala916=)
c.2700C>A (p.Ala900=)
c.2565C>A (p.Ala855=)
16g.28835617C>GCA494868570ATXN2Lc.2754C>G (p.Ala918=)
c.729C>G (p.Ala243=)
n.3128C>G
c.2772C>G (p.Ala924=)
c.1818C>G (n.1818C>G)
c.23C>G
c.732C>G (p.Ala244=)
c.274C>G
c.2775C>G (p.Ala925=)
c.2757C>G (p.Ala919=)
c.2595C>G (p.Ala865=)
c.2703C>G (p.Ala901=)
c.2685C>G (p.Ala895=)
c.2409C>G (p.Ala803=)
n.2984C>G
c.2577C>G (p.Ala859=)
c.2391C>G (p.Ala797=)
n.2987C>G
c.2682C>G (p.Ala894=)
c.2748C>G (p.Ala916=)
c.2700C>G (p.Ala900=)
c.2565C>G (p.Ala855=)
16g.28835617C>TCA494868572ATXN2Lc.2754C>T (p.Ala918=)
c.729C>T (p.Ala243=)
n.3128C>T
c.2772C>T (p.Ala924=)
c.1818C>T (n.1818C>T)
c.23C>T
c.732C>T (p.Ala244=)
c.274C>T
c.2775C>T (p.Ala925=)
c.2757C>T (p.Ala919=)
c.2595C>T (p.Ala865=)
c.2703C>T (p.Ala901=)
c.2685C>T (p.Ala895=)
c.2409C>T (p.Ala803=)
n.2984C>T
c.2577C>T (p.Ala859=)
c.2391C>T (p.Ala797=)
n.2987C>T
c.2682C>T (p.Ala894=)
c.2748C>T (p.Ala916=)
c.2700C>T (p.Ala900=)
c.2565C>T (p.Ala855=)
16g.28835618C>ACA395408205ATXN2Lc.2755C>A (p.Leu919Met)
c.730C>A (p.Leu244Met)
n.3129C>A
c.2773C>A (p.Leu925Met)
c.1819C>A (n.1819C>A)
c.24C>A
c.733C>A (p.Leu245Met)
c.275C>A
c.2776C>A (p.Leu926Met)
c.2758C>A (p.Leu920Met)
c.2596C>A (p.Leu866Met)
c.2704C>A (p.Leu902Met)
c.2686C>A (p.Leu896Met)
c.2410C>A (p.Leu804Met)
n.2985C>A
c.2578C>A (p.Leu860Met)
c.2392C>A (p.Leu798Met)
n.2988C>A
c.2683C>A (p.Leu895Met)
c.2749C>A (p.Leu917Met)
c.2701C>A (p.Leu901Met)
c.2566C>A (p.Leu856Met)
16g.28835618C=CA2215806313ATXN2Lc.2755C= (p.Leu919=)
c.730C= (p.Leu244=)
n.3129C=
c.2773C= (p.Leu925=)
c.1819C= (n.1819C=)
c.24C=
c.733C= (p.Leu245=)
c.275C=
c.2776C= (p.Leu926=)
c.2758C= (p.Leu920=)
c.2596C= (p.Leu866=)
c.2704C= (p.Leu902=)
c.2686C= (p.Leu896=)
c.2410C= (p.Leu804=)
n.2985C=
c.2578C= (p.Leu860=)
c.2392C= (p.Leu798=)
n.2988C=
c.2683C= (p.Leu895=)
c.2749C= (p.Leu917=)
c.2701C= (p.Leu901=)
c.2566C= (p.Leu856=)
16g.28835618C>GCA395408203ATXN2Lc.2755C>G (p.Leu919Val)
c.730C>G (p.Leu244Val)
n.3129C>G
c.2773C>G (p.Leu925Val)
c.1819C>G (n.1819C>G)
c.24C>G
c.733C>G (p.Leu245Val)
c.275C>G
c.2776C>G (p.Leu926Val)
c.2758C>G (p.Leu920Val)
c.2596C>G (p.Leu866Val)
c.2704C>G (p.Leu902Val)
c.2686C>G (p.Leu896Val)
c.2410C>G (p.Leu804Val)
n.2985C>G
c.2578C>G (p.Leu860Val)
c.2392C>G (p.Leu798Val)
n.2988C>G
c.2683C>G (p.Leu895Val)
c.2749C>G (p.Leu917Val)
c.2701C>G (p.Leu901Val)
c.2566C>G (p.Leu856Val)
 gnomAD v4
16g.28835618C>TCA494868581ATXN2Lc.2755C>T (p.Leu919=)
c.730C>T (p.Leu244=)
n.3129C>T
c.2773C>T (p.Leu925=)
c.1819C>T (n.1819C>T)
c.24C>T
c.733C>T (p.Leu245=)
c.275C>T
c.2776C>T (p.Leu926=)
c.2758C>T (p.Leu920=)
c.2596C>T (p.Leu866=)
c.2704C>T (p.Leu902=)
c.2686C>T (p.Leu896=)
c.2410C>T (p.Leu804=)
n.2985C>T
c.2578C>T (p.Leu860=)
c.2392C>T (p.Leu798=)
n.2988C>T
c.2683C>T (p.Leu895=)
c.2749C>T (p.Leu917=)
c.2701C>T (p.Leu901=)
c.2566C>T (p.Leu856=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835619T>ACA395408207ATXN2Lc.2756T>A (p.Leu919Gln)
c.731T>A (p.Leu244Gln)
n.3130T>A
c.2774T>A (p.Leu925Gln)
c.1820T>A (n.1820T>A)
c.25T>A
c.734T>A (p.Leu245Gln)
c.276T>A
c.2777T>A (p.Leu926Gln)
c.2759T>A (p.Leu920Gln)
c.2597T>A (p.Leu866Gln)
c.2705T>A (p.Leu902Gln)
c.2687T>A (p.Leu896Gln)
c.2411T>A (p.Leu804Gln)
n.2986T>A
c.2579T>A (p.Leu860Gln)
c.2393T>A (p.Leu798Gln)
n.2989T>A
c.2684T>A (p.Leu895Gln)
c.2750T>A (p.Leu917Gln)
c.2702T>A (p.Leu901Gln)
c.2567T>A (p.Leu856Gln)
16g.28835619T>CCA395408209ATXN2Lc.2756T>C (p.Leu919Pro)
c.731T>C (p.Leu244Pro)
n.3130T>C
c.2774T>C (p.Leu925Pro)
c.1820T>C (n.1820T>C)
c.25T>C
c.734T>C (p.Leu245Pro)
c.276T>C
c.2777T>C (p.Leu926Pro)
c.2759T>C (p.Leu920Pro)
c.2597T>C (p.Leu866Pro)
c.2705T>C (p.Leu902Pro)
c.2687T>C (p.Leu896Pro)
c.2411T>C (p.Leu804Pro)
n.2986T>C
c.2579T>C (p.Leu860Pro)
c.2393T>C (p.Leu798Pro)
n.2989T>C
c.2684T>C (p.Leu895Pro)
c.2750T>C (p.Leu917Pro)
c.2702T>C (p.Leu901Pro)
c.2567T>C (p.Leu856Pro)
16g.28835619T>GCA395408210ATXN2Lc.2756T>G (p.Leu919Arg)
c.731T>G (p.Leu244Arg)
n.3130T>G
c.2774T>G (p.Leu925Arg)
c.1820T>G (n.1820T>G)
c.25T>G
c.734T>G (p.Leu245Arg)
c.276T>G
c.2777T>G (p.Leu926Arg)
c.2759T>G (p.Leu920Arg)
c.2597T>G (p.Leu866Arg)
c.2705T>G (p.Leu902Arg)
c.2687T>G (p.Leu896Arg)
c.2411T>G (p.Leu804Arg)
n.2986T>G
c.2579T>G (p.Leu860Arg)
c.2393T>G (p.Leu798Arg)
n.2989T>G
c.2684T>G (p.Leu895Arg)
c.2750T>G (p.Leu917Arg)
c.2702T>G (p.Leu901Arg)
c.2567T>G (p.Leu856Arg)
16g.28835620G>ACA494868586ATXN2Lc.2757G>A (p.Leu919=)
c.732G>A (p.Leu244=)
n.3131G>A
c.2775G>A (p.Leu925=)
c.1821G>A (n.1821G>A)
c.26G>A
c.735G>A (p.Leu245=)
c.277G>A
c.2778G>A (p.Leu926=)
c.2760G>A (p.Leu920=)
c.2598G>A (p.Leu866=)
c.2706G>A (p.Leu902=)
c.2688G>A (p.Leu896=)
c.2412G>A (p.Leu804=)
n.2987G>A
c.2580G>A (p.Leu860=)
c.2394G>A (p.Leu798=)
n.2990G>A
c.2685G>A (p.Leu895=)
c.2751G>A (p.Leu917=)
c.2703G>A (p.Leu901=)
c.2568G>A (p.Leu856=)
16g.28835620G>CCA494868587ATXN2Lc.2757G>C (p.Leu919=)
c.732G>C (p.Leu244=)
n.3131G>C
c.2775G>C (p.Leu925=)
c.1821G>C (n.1821G>C)
c.26G>C
c.735G>C (p.Leu245=)
c.277G>C
c.2778G>C (p.Leu926=)
c.2760G>C (p.Leu920=)
c.2598G>C (p.Leu866=)
c.2706G>C (p.Leu902=)
c.2688G>C (p.Leu896=)
c.2412G>C (p.Leu804=)
n.2987G>C
c.2580G>C (p.Leu860=)
c.2394G>C (p.Leu798=)
n.2990G>C
c.2685G>C (p.Leu895=)
c.2751G>C (p.Leu917=)
c.2703G>C (p.Leu901=)
c.2568G>C (p.Leu856=)
16g.28835620G>TCA494868589ATXN2Lc.2757G>T (p.Leu919=)
c.732G>T (p.Leu244=)
n.3131G>T
c.2775G>T (p.Leu925=)
c.1821G>T (n.1821G>T)
c.26G>T
c.735G>T (p.Leu245=)
c.277G>T
c.2778G>T (p.Leu926=)
c.2760G>T (p.Leu920=)
c.2598G>T (p.Leu866=)
c.2706G>T (p.Leu902=)
c.2688G>T (p.Leu896=)
c.2412G>T (p.Leu804=)
n.2987G>T
c.2580G>T (p.Leu860=)
c.2394G>T (p.Leu798=)
n.2990G>T
c.2685G>T (p.Leu895=)
c.2751G>T (p.Leu917=)
c.2703G>T (p.Leu901=)
c.2568G>T (p.Leu856=)
16g.28835621A>CCA395408211ATXN2Lc.2758A>C (p.Thr920Pro)
c.733A>C (p.Thr245Pro)
n.3132A>C
c.2776A>C (p.Thr926Pro)
c.1822A>C (n.1822A>C)
c.27A>C
c.736A>C (p.Thr246Pro)
c.278A>C
c.2779A>C (p.Thr927Pro)
c.2761A>C (p.Thr921Pro)
c.2599A>C (p.Thr867Pro)
c.2707A>C (p.Thr903Pro)
c.2689A>C (p.Thr897Pro)
c.2413A>C (p.Thr805Pro)
n.2988A>C
c.2581A>C (p.Thr861Pro)
c.2395A>C (p.Thr799Pro)
n.2991A>C
c.2686A>C (p.Thr896Pro)
c.2752A>C (p.Thr918Pro)
c.2704A>C (p.Thr902Pro)
c.2569A>C (p.Thr857Pro)
16g.28835621A>GCA395408213ATXN2Lc.2758A>G (p.Thr920Ala)
c.733A>G (p.Thr245Ala)
n.3132A>G
c.2776A>G (p.Thr926Ala)
c.1822A>G (n.1822A>G)
c.27A>G
c.736A>G (p.Thr246Ala)
c.278A>G
c.2779A>G (p.Thr927Ala)
c.2761A>G (p.Thr921Ala)
c.2599A>G (p.Thr867Ala)
c.2707A>G (p.Thr903Ala)
c.2689A>G (p.Thr897Ala)
c.2413A>G (p.Thr805Ala)
n.2988A>G
c.2581A>G (p.Thr861Ala)
c.2395A>G (p.Thr799Ala)
n.2991A>G
c.2686A>G (p.Thr896Ala)
c.2752A>G (p.Thr918Ala)
c.2704A>G (p.Thr902Ala)
c.2569A>G (p.Thr857Ala)
16g.28835621A>TCA395408215ATXN2Lc.2758A>T (p.Thr920Ser)
c.733A>T (p.Thr245Ser)
n.3132A>T
c.2776A>T (p.Thr926Ser)
c.1822A>T (n.1822A>T)
c.27A>T
c.736A>T (p.Thr246Ser)
c.278A>T
c.2779A>T (p.Thr927Ser)
c.2761A>T (p.Thr921Ser)
c.2599A>T (p.Thr867Ser)
c.2707A>T (p.Thr903Ser)
c.2689A>T (p.Thr897Ser)
c.2413A>T (p.Thr805Ser)
n.2988A>T
c.2581A>T (p.Thr861Ser)
c.2395A>T (p.Thr799Ser)
n.2991A>T
c.2686A>T (p.Thr896Ser)
c.2752A>T (p.Thr918Ser)
c.2704A>T (p.Thr902Ser)
c.2569A>T (p.Thr857Ser)
16g.28835622C>ACA395408216ATXN2Lc.2759C>A (p.Thr920Lys)
c.734C>A (p.Thr245Lys)
n.3133C>A
c.2777C>A (p.Thr926Lys)
c.1823C>A (n.1823C>A)
c.28C>A
c.737C>A (p.Thr246Lys)
c.279C>A
c.2780C>A (p.Thr927Lys)
c.2762C>A (p.Thr921Lys)
c.2600C>A (p.Thr867Lys)
c.2708C>A (p.Thr903Lys)
c.2690C>A (p.Thr897Lys)
c.2414C>A (p.Thr805Lys)
n.2989C>A
c.2582C>A (p.Thr861Lys)
c.2396C>A (p.Thr799Lys)
n.2992C>A
c.2687C>A (p.Thr896Lys)
c.2753C>A (p.Thr918Lys)
c.2705C>A (p.Thr902Lys)
c.2570C>A (p.Thr857Lys)
16g.28835622C=CA2215806315ATXN2Lc.2759C= (p.Thr920=)
c.734C= (p.Thr245=)
n.3133C=
c.2777C= (p.Thr926=)
c.1823C= (n.1823C=)
c.28C=
c.737C= (p.Thr246=)
c.279C=
c.2780C= (p.Thr927=)
c.2762C= (p.Thr921=)
c.2600C= (p.Thr867=)
c.2708C= (p.Thr903=)
c.2690C= (p.Thr897=)
c.2414C= (p.Thr805=)
n.2989C=
c.2582C= (p.Thr861=)
c.2396C= (p.Thr799=)
n.2992C=
c.2687C= (p.Thr896=)
c.2753C= (p.Thr918=)
c.2705C= (p.Thr902=)
c.2570C= (p.Thr857=)
16g.28835622C>GCA395408217ATXN2Lc.2759C>G (p.Thr920Arg)
c.734C>G (p.Thr245Arg)
n.3133C>G
c.2777C>G (p.Thr926Arg)
c.1823C>G (n.1823C>G)
c.28C>G
c.737C>G (p.Thr246Arg)
c.279C>G
c.2780C>G (p.Thr927Arg)
c.2762C>G (p.Thr921Arg)
c.2600C>G (p.Thr867Arg)
c.2708C>G (p.Thr903Arg)
c.2690C>G (p.Thr897Arg)
c.2414C>G (p.Thr805Arg)
n.2989C>G
c.2582C>G (p.Thr861Arg)
c.2396C>G (p.Thr799Arg)
n.2992C>G
c.2687C>G (p.Thr896Arg)
c.2753C>G (p.Thr918Arg)
c.2705C>G (p.Thr902Arg)
c.2570C>G (p.Thr857Arg)
16g.28835622C>TCA7985087ATXN2Lc.2759C>T (p.Thr920Ile)
c.734C>T (p.Thr245Ile)
n.3133C>T
c.2777C>T (p.Thr926Ile)
c.1823C>T (n.1823C>T)
c.28C>T
c.737C>T (p.Thr246Ile)
c.279C>T
c.2780C>T (p.Thr927Ile)
c.2762C>T (p.Thr921Ile)
c.2600C>T (p.Thr867Ile)
c.2708C>T (p.Thr903Ile)
c.2690C>T (p.Thr897Ile)
c.2414C>T (p.Thr805Ile)
n.2989C>T
c.2582C>T (p.Thr861Ile)
c.2396C>T (p.Thr799Ile)
n.2992C>T
c.2687C>T (p.Thr896Ile)
c.2753C>T (p.Thr918Ile)
c.2705C>T (p.Thr902Ile)
c.2570C>T (p.Thr857Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835623A>CCA494868606ATXN2Lc.2760A>C (p.Thr920=)
c.735A>C (p.Thr245=)
n.3134A>C
c.2778A>C (p.Thr926=)
c.1824A>C (n.1824A>C)
c.29A>C
c.738A>C (p.Thr246=)
c.280A>C
c.2781A>C (p.Thr927=)
c.2763A>C (p.Thr921=)
c.2601A>C (p.Thr867=)
c.2709A>C (p.Thr903=)
c.2691A>C (p.Thr897=)
c.2415A>C (p.Thr805=)
n.2990A>C
c.2583A>C (p.Thr861=)
c.2397A>C (p.Thr799=)
n.2993A>C
c.2688A>C (p.Thr896=)
c.2754A>C (p.Thr918=)
c.2706A>C (p.Thr902=)
c.2571A>C (p.Thr857=)
16g.28835623A>GCA494868607ATXN2Lc.2760A>G (p.Thr920=)
c.735A>G (p.Thr245=)
n.3134A>G
c.2778A>G (p.Thr926=)
c.1824A>G (n.1824A>G)
c.29A>G
c.738A>G (p.Thr246=)
c.280A>G
c.2781A>G (p.Thr927=)
c.2763A>G (p.Thr921=)
c.2601A>G (p.Thr867=)
c.2709A>G (p.Thr903=)
c.2691A>G (p.Thr897=)
c.2415A>G (p.Thr805=)
n.2990A>G
c.2583A>G (p.Thr861=)
c.2397A>G (p.Thr799=)
n.2993A>G
c.2688A>G (p.Thr896=)
c.2754A>G (p.Thr918=)
c.2706A>G (p.Thr902=)
c.2571A>G (p.Thr857=)
 gnomAD v4
16g.28835623A>TCA494868608ATXN2Lc.2760A>T (p.Thr920=)
c.735A>T (p.Thr245=)
n.3134A>T
c.2778A>T (p.Thr926=)
c.1824A>T (n.1824A>T)
c.29A>T
c.738A>T (p.Thr246=)
c.280A>T
c.2781A>T (p.Thr927=)
c.2763A>T (p.Thr921=)
c.2601A>T (p.Thr867=)
c.2709A>T (p.Thr903=)
c.2691A>T (p.Thr897=)
c.2415A>T (p.Thr805=)
n.2990A>T
c.2583A>T (p.Thr861=)
c.2397A>T (p.Thr799=)
n.2993A>T
c.2688A>T (p.Thr896=)
c.2754A>T (p.Thr918=)
c.2706A>T (p.Thr902=)
c.2571A>T (p.Thr857=)
16g.28835624G>ACA279230752ATXN2Lc.2761G>A (p.Gly921Ser)
c.736G>A (p.Gly246Ser)
n.3135G>A
c.2779G>A (p.Gly927Ser)
c.1825G>A (n.1825G>A)
c.30G>A
c.739G>A (p.Gly247Ser)
c.281G>A
c.2782G>A (p.Gly928Ser)
c.2764G>A (p.Gly922Ser)
c.2602G>A (p.Gly868Ser)
c.2710G>A (p.Gly904Ser)
c.2692G>A (p.Gly898Ser)
c.2416G>A (p.Gly806Ser)
n.2991G>A
c.2584G>A (p.Gly862Ser)
c.2398G>A (p.Gly800Ser)
n.2994G>A
c.2689G>A (p.Gly897Ser)
c.2755G>A (p.Gly919Ser)
c.2707G>A (p.Gly903Ser)
c.2572G>A (p.Gly858Ser)
 dbSNP gnomAD v4
16g.28835624G>CCA395408221ATXN2Lc.2761G>C (p.Gly921Arg)
c.736G>C (p.Gly246Arg)
n.3135G>C
c.2779G>C (p.Gly927Arg)
c.1825G>C (n.1825G>C)
c.30G>C
c.739G>C (p.Gly247Arg)
c.281G>C
c.2782G>C (p.Gly928Arg)
c.2764G>C (p.Gly922Arg)
c.2602G>C (p.Gly868Arg)
c.2710G>C (p.Gly904Arg)
c.2692G>C (p.Gly898Arg)
c.2416G>C (p.Gly806Arg)
n.2991G>C
c.2584G>C (p.Gly862Arg)
c.2398G>C (p.Gly800Arg)
n.2994G>C
c.2689G>C (p.Gly897Arg)
c.2755G>C (p.Gly919Arg)
c.2707G>C (p.Gly903Arg)
c.2572G>C (p.Gly858Arg)
 gnomAD v4
16g.28835624G=CA2215806318ATXN2Lc.2761G= (p.Gly921=)
c.736G= (p.Gly246=)
n.3135G=
c.2779G= (p.Gly927=)
c.1825G= (n.1825G=)
c.30G=
c.739G= (p.Gly247=)
c.281G=
c.2782G= (p.Gly928=)
c.2764G= (p.Gly922=)
c.2602G= (p.Gly868=)
c.2710G= (p.Gly904=)
c.2692G= (p.Gly898=)
c.2416G= (p.Gly806=)
n.2991G=
c.2584G= (p.Gly862=)
c.2398G= (p.Gly800=)
n.2994G=
c.2689G= (p.Gly897=)
c.2755G= (p.Gly919=)
c.2707G= (p.Gly903=)
c.2572G= (p.Gly858=)
16g.28835624G>TCA395408223ATXN2Lc.2761G>T (p.Gly921Cys)
c.736G>T (p.Gly246Cys)
n.3135G>T
c.2779G>T (p.Gly927Cys)
c.1825G>T (n.1825G>T)
c.30G>T
c.739G>T (p.Gly247Cys)
c.281G>T
c.2782G>T (p.Gly928Cys)
c.2764G>T (p.Gly922Cys)
c.2602G>T (p.Gly868Cys)
c.2710G>T (p.Gly904Cys)
c.2692G>T (p.Gly898Cys)
c.2416G>T (p.Gly806Cys)
n.2991G>T
c.2584G>T (p.Gly862Cys)
c.2398G>T (p.Gly800Cys)
n.2994G>T
c.2689G>T (p.Gly897Cys)
c.2755G>T (p.Gly919Cys)
c.2707G>T (p.Gly903Cys)
c.2572G>T (p.Gly858Cys)
16g.28835625G>ACA7985088ATXN2Lc.2762G>A (p.Gly921Asp)
c.737G>A (p.Gly246Asp)
n.3136G>A
c.2780G>A (p.Gly927Asp)
c.1826G>A (n.1826G>A)
c.31G>A
c.740G>A (p.Gly247Asp)
c.282G>A
c.2783G>A (p.Gly928Asp)
c.2765G>A (p.Gly922Asp)
c.2603G>A (p.Gly868Asp)
c.2711G>A (p.Gly904Asp)
c.2693G>A (p.Gly898Asp)
c.2417G>A (p.Gly806Asp)
n.2992G>A
c.2585G>A (p.Gly862Asp)
c.2399G>A (p.Gly800Asp)
n.2995G>A
c.2690G>A (p.Gly897Asp)
c.2756G>A (p.Gly919Asp)
c.2708G>A (p.Gly903Asp)
c.2573G>A (p.Gly858Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835625G>CCA395408227ATXN2Lc.2762G>C (p.Gly921Ala)
c.737G>C (p.Gly246Ala)
n.3136G>C
c.2780G>C (p.Gly927Ala)
c.1826G>C (n.1826G>C)
c.31G>C
c.740G>C (p.Gly247Ala)
c.282G>C
c.2783G>C (p.Gly928Ala)
c.2765G>C (p.Gly922Ala)
c.2603G>C (p.Gly868Ala)
c.2711G>C (p.Gly904Ala)
c.2693G>C (p.Gly898Ala)
c.2417G>C (p.Gly806Ala)
n.2992G>C
c.2585G>C (p.Gly862Ala)
c.2399G>C (p.Gly800Ala)
n.2995G>C
c.2690G>C (p.Gly897Ala)
c.2756G>C (p.Gly919Ala)
c.2708G>C (p.Gly903Ala)
c.2573G>C (p.Gly858Ala)
 gnomAD v4
16g.28835625G=CA2215806320ATXN2Lc.2762G= (p.Gly921=)
c.737G= (p.Gly246=)
n.3136G=
c.2780G= (p.Gly927=)
c.1826G= (n.1826G=)
c.31G=
c.740G= (p.Gly247=)
c.282G=
c.2783G= (p.Gly928=)
c.2765G= (p.Gly922=)
c.2603G= (p.Gly868=)
c.2711G= (p.Gly904=)
c.2693G= (p.Gly898=)
c.2417G= (p.Gly806=)
n.2992G=
c.2585G= (p.Gly862=)
c.2399G= (p.Gly800=)
n.2995G=
c.2690G= (p.Gly897=)
c.2756G= (p.Gly919=)
c.2708G= (p.Gly903=)
c.2573G= (p.Gly858=)
16g.28835625G>TCA395408226ATXN2Lc.2762G>T (p.Gly921Val)
c.737G>T (p.Gly246Val)
n.3136G>T
c.2780G>T (p.Gly927Val)
c.1826G>T (n.1826G>T)
c.31G>T
c.740G>T (p.Gly247Val)
c.282G>T
c.2783G>T (p.Gly928Val)
c.2765G>T (p.Gly922Val)
c.2603G>T (p.Gly868Val)
c.2711G>T (p.Gly904Val)
c.2693G>T (p.Gly898Val)
c.2417G>T (p.Gly806Val)
n.2992G>T
c.2585G>T (p.Gly862Val)
c.2399G>T (p.Gly800Val)
n.2995G>T
c.2690G>T (p.Gly897Val)
c.2756G>T (p.Gly919Val)
c.2708G>T (p.Gly903Val)
c.2573G>T (p.Gly858Val)
16g.28835626C>ACA494868638ATXN2Lc.2763C>A (p.Gly921=)
c.738C>A (p.Gly246=)
n.3137C>A
c.2781C>A (p.Gly927=)
c.1827C>A (n.1827C>A)
c.32C>A
c.741C>A (p.Gly247=)
c.283C>A
c.2784C>A (p.Gly928=)
c.2766C>A (p.Gly922=)
c.2604C>A (p.Gly868=)
c.2712C>A (p.Gly904=)
c.2694C>A (p.Gly898=)
c.2418C>A (p.Gly806=)
n.2993C>A
c.2586C>A (p.Gly862=)
c.2400C>A (p.Gly800=)
n.2996C>A
c.2691C>A (p.Gly897=)
c.2757C>A (p.Gly919=)
c.2709C>A (p.Gly903=)
c.2574C>A (p.Gly858=)
16g.28835626C>GCA494868636ATXN2Lc.2763C>G (p.Gly921=)
c.738C>G (p.Gly246=)
n.3137C>G
c.2781C>G (p.Gly927=)
c.1827C>G (n.1827C>G)
c.32C>G
c.741C>G (p.Gly247=)
c.283C>G
c.2784C>G (p.Gly928=)
c.2766C>G (p.Gly922=)
c.2604C>G (p.Gly868=)
c.2712C>G (p.Gly904=)
c.2694C>G (p.Gly898=)
c.2418C>G (p.Gly806=)
n.2993C>G
c.2586C>G (p.Gly862=)
c.2400C>G (p.Gly800=)
n.2996C>G
c.2691C>G (p.Gly897=)
c.2757C>G (p.Gly919=)
c.2709C>G (p.Gly903=)
c.2574C>G (p.Gly858=)
16g.28835626C>TCA494868632ATXN2Lc.2763C>T (p.Gly921=)
c.738C>T (p.Gly246=)
n.3137C>T
c.2781C>T (p.Gly927=)
c.1827C>T (n.1827C>T)
c.32C>T
c.741C>T (p.Gly247=)
c.283C>T
c.2784C>T (p.Gly928=)
c.2766C>T (p.Gly922=)
c.2604C>T (p.Gly868=)
c.2712C>T (p.Gly904=)
c.2694C>T (p.Gly898=)
c.2418C>T (p.Gly806=)
n.2993C>T
c.2586C>T (p.Gly862=)
c.2400C>T (p.Gly800=)
n.2996C>T
c.2691C>T (p.Gly897=)
c.2757C>T (p.Gly919=)
c.2709C>T (p.Gly903=)
c.2574C>T (p.Gly858=)
16g.28835627A>CCA395408228ATXN2Lc.2764A>C (p.Thr922Pro)
c.739A>C (p.Thr247Pro)
n.3138A>C
c.2782A>C (p.Thr928Pro)
c.1828A>C (n.1828A>C)
c.33A>C
c.742A>C (p.Thr248Pro)
c.284A>C
c.2785A>C (p.Thr929Pro)
c.2767A>C (p.Thr923Pro)
c.2605A>C (p.Thr869Pro)
c.2713A>C (p.Thr905Pro)
c.2695A>C (p.Thr899Pro)
c.2419A>C (p.Thr807Pro)
n.2994A>C
c.2587A>C (p.Thr863Pro)
c.2401A>C (p.Thr801Pro)
n.2997A>C
c.2692A>C (p.Thr898Pro)
c.2758A>C (p.Thr920Pro)
c.2710A>C (p.Thr904Pro)
c.2575A>C (p.Thr859Pro)
16g.28835627A>GCA395408229ATXN2Lc.2764A>G (p.Thr922Ala)
c.739A>G (p.Thr247Ala)
n.3138A>G
c.2782A>G (p.Thr928Ala)
c.1828A>G (n.1828A>G)
c.33A>G
c.742A>G (p.Thr248Ala)
c.284A>G
c.2785A>G (p.Thr929Ala)
c.2767A>G (p.Thr923Ala)
c.2605A>G (p.Thr869Ala)
c.2713A>G (p.Thr905Ala)
c.2695A>G (p.Thr899Ala)
c.2419A>G (p.Thr807Ala)
n.2994A>G
c.2587A>G (p.Thr863Ala)
c.2401A>G (p.Thr801Ala)
n.2997A>G
c.2692A>G (p.Thr898Ala)
c.2758A>G (p.Thr920Ala)
c.2710A>G (p.Thr904Ala)
c.2575A>G (p.Thr859Ala)
16g.28835627A>TCA395408230ATXN2Lc.2764A>T (p.Thr922Ser)
c.739A>T (p.Thr247Ser)
n.3138A>T
c.2782A>T (p.Thr928Ser)
c.1828A>T (n.1828A>T)
c.33A>T
c.742A>T (p.Thr248Ser)
c.284A>T
c.2785A>T (p.Thr929Ser)
c.2767A>T (p.Thr923Ser)
c.2605A>T (p.Thr869Ser)
c.2713A>T (p.Thr905Ser)
c.2695A>T (p.Thr899Ser)
c.2419A>T (p.Thr807Ser)
n.2994A>T
c.2587A>T (p.Thr863Ser)
c.2401A>T (p.Thr801Ser)
n.2997A>T
c.2692A>T (p.Thr898Ser)
c.2758A>T (p.Thr920Ser)
c.2710A>T (p.Thr904Ser)
c.2575A>T (p.Thr859Ser)
16g.28835627_28835630delinsACGCCA2215806323ATXN2Lc.2764_2767delinsACGC (p.Thr922=)
c.739_742delinsACGC (p.Thr247=)
n.3138_3141delinsACGC
c.2782_2785delinsACGC (p.Thr928=)
c.1828_1831delinsACGC (n.1828_1831delinsACGC)
c.33_36delinsACGC
c.742_745delinsACGC (p.Thr248=)
c.284_287delinsACGC
c.2785_2788delinsACGC (p.Thr929=)
c.2767_2770delinsACGC (p.Thr923=)
c.2605_2608delinsACGC (p.Thr869=)
c.2713_2716delinsACGC (p.Thr905=)
c.2695_2698delinsACGC (p.Thr899=)
c.2419_2422delinsACGC (p.Thr807=)
n.2994_2997delinsACGC
c.2587_2590delinsACGC (p.Thr863=)
c.2401_2404delinsACGC (p.Thr801=)
n.2997_3000delinsACGC
c.2692_2695delinsACGC (p.Thr898=)
c.2758_2761delinsACGC (p.Thr920=)
c.2710_2713delinsACGC (p.Thr904=)
c.2575_2578delinsACGC (p.Thr859=)
16g.28835628C>ACA395408231ATXN2Lc.2765C>A (p.Thr922Lys)
c.740C>A (p.Thr247Lys)
n.3139C>A
c.2783C>A (p.Thr928Lys)
c.1829C>A (n.1829C>A)
c.34C>A
c.743C>A (p.Thr248Lys)
c.285C>A
c.2786C>A (p.Thr929Lys)
c.2768C>A (p.Thr923Lys)
c.2606C>A (p.Thr869Lys)
c.2714C>A (p.Thr905Lys)
c.2696C>A (p.Thr899Lys)
c.2420C>A (p.Thr807Lys)
n.2995C>A
c.2588C>A (p.Thr863Lys)
c.2402C>A (p.Thr801Lys)
n.2998C>A
c.2693C>A (p.Thr898Lys)
c.2759C>A (p.Thr920Lys)
c.2711C>A (p.Thr904Lys)
c.2576C>A (p.Thr859Lys)
 gnomAD v4
16g.28835628C=CA2215806327ATXN2Lc.2765C= (p.Thr922=)
c.740C= (p.Thr247=)
n.3139C=
c.2783C= (p.Thr928=)
c.1829C= (n.1829C=)
c.34C=
c.743C= (p.Thr248=)
c.285C=
c.2786C= (p.Thr929=)
c.2768C= (p.Thr923=)
c.2606C= (p.Thr869=)
c.2714C= (p.Thr905=)
c.2696C= (p.Thr899=)
c.2420C= (p.Thr807=)
n.2995C=
c.2588C= (p.Thr863=)
c.2402C= (p.Thr801=)
n.2998C=
c.2693C= (p.Thr898=)
c.2759C= (p.Thr920=)
c.2711C= (p.Thr904=)
c.2576C= (p.Thr859=)
16g.28835628C>GCA395408232ATXN2Lc.2765C>G (p.Thr922Arg)
c.740C>G (p.Thr247Arg)
n.3139C>G
c.2783C>G (p.Thr928Arg)
c.1829C>G (n.1829C>G)
c.34C>G
c.743C>G (p.Thr248Arg)
c.285C>G
c.2786C>G (p.Thr929Arg)
c.2768C>G (p.Thr923Arg)
c.2606C>G (p.Thr869Arg)
c.2714C>G (p.Thr905Arg)
c.2696C>G (p.Thr899Arg)
c.2420C>G (p.Thr807Arg)
n.2995C>G
c.2588C>G (p.Thr863Arg)
c.2402C>G (p.Thr801Arg)
n.2998C>G
c.2693C>G (p.Thr898Arg)
c.2759C>G (p.Thr920Arg)
c.2711C>G (p.Thr904Arg)
c.2576C>G (p.Thr859Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.28835628C>TCA279230754ATXN2Lc.2765C>T (p.Thr922Met)
c.740C>T (p.Thr247Met)
n.3139C>T
c.2783C>T (p.Thr928Met)
c.1829C>T (n.1829C>T)
c.34C>T
c.743C>T (p.Thr248Met)
c.285C>T
c.2786C>T (p.Thr929Met)
c.2768C>T (p.Thr923Met)
c.2606C>T (p.Thr869Met)
c.2714C>T (p.Thr905Met)
c.2696C>T (p.Thr899Met)
c.2420C>T (p.Thr807Met)
n.2995C>T
c.2588C>T (p.Thr863Met)
c.2402C>T (p.Thr801Met)
n.2998C>T
c.2693C>T (p.Thr898Met)
c.2759C>T (p.Thr920Met)
c.2711C>T (p.Thr904Met)
c.2576C>T (p.Thr859Met)
 dbSNP gnomAD v3 gnomAD v4
16g.28835632_28835634delCA719715198ATXN2Lc.2769_2771del (p.Pro924del)
c.744_746del (p.Pro249del)
n.3143_3145del
c.2787_2789del (p.Pro930del)
c.1833_1835del (n.1833_1835del)
c.38_40del
c.747_749del (p.Pro250del)
c.289_291del
c.2790_2792del (p.Pro931del)
c.2772_2774del (p.Pro925del)
c.2610_2612del (p.Pro871del)
c.2718_2720del (p.Pro907del)
c.2700_2702del (p.Pro901del)
c.2424_2426del (p.Pro809del)
n.2999_3001del
c.2592_2594del (p.Pro865del)
c.2406_2408del (p.Pro803del)
n.3002_3004del
c.2697_2699del (p.Pro900del)
c.2763_2765del (p.Pro922del)
c.2715_2717del (p.Pro906del)
c.2580_2582del (p.Pro861del)
 dbSNP
16g.28835629G>ACA7985089ATXN2Lc.2766G>A (p.Thr922=)
c.741G>A (p.Thr247=)
n.3140G>A
c.2784G>A (p.Thr928=)
c.1830G>A (n.1830G>A)
c.35G>A
c.744G>A (p.Thr248=)
c.286G>A
c.2787G>A (p.Thr929=)
c.2769G>A (p.Thr923=)
c.2607G>A (p.Thr869=)
c.2715G>A (p.Thr905=)
c.2697G>A (p.Thr899=)
c.2421G>A (p.Thr807=)
n.2996G>A
c.2589G>A (p.Thr863=)
c.2403G>A (p.Thr801=)
n.2999G>A
c.2694G>A (p.Thr898=)
c.2760G>A (p.Thr920=)
c.2712G>A (p.Thr904=)
c.2577G>A (p.Thr859=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835629G>CCA494868652ATXN2Lc.2766G>C (p.Thr922=)
c.741G>C (p.Thr247=)
n.3140G>C
c.2784G>C (p.Thr928=)
c.1830G>C (n.1830G>C)
c.35G>C
c.744G>C (p.Thr248=)
c.286G>C
c.2787G>C (p.Thr929=)
c.2769G>C (p.Thr923=)
c.2607G>C (p.Thr869=)
c.2715G>C (p.Thr905=)
c.2697G>C (p.Thr899=)
c.2421G>C (p.Thr807=)
n.2996G>C
c.2589G>C (p.Thr863=)
c.2403G>C (p.Thr801=)
n.2999G>C
c.2694G>C (p.Thr898=)
c.2760G>C (p.Thr920=)
c.2712G>C (p.Thr904=)
c.2577G>C (p.Thr859=)
16g.28835629G=CA2215806335ATXN2Lc.2766G= (p.Thr922=)
c.741G= (p.Thr247=)
n.3140G=
c.2784G= (p.Thr928=)
c.1830G= (n.1830G=)
c.35G=
c.744G= (p.Thr248=)
c.286G=
c.2787G= (p.Thr929=)
c.2769G= (p.Thr923=)
c.2607G= (p.Thr869=)
c.2715G= (p.Thr905=)
c.2697G= (p.Thr899=)
c.2421G= (p.Thr807=)
n.2996G=
c.2589G= (p.Thr863=)
c.2403G= (p.Thr801=)
n.2999G=
c.2694G= (p.Thr898=)
c.2760G= (p.Thr920=)
c.2712G= (p.Thr904=)
c.2577G= (p.Thr859=)
16g.28835629G>TCA494868651ATXN2Lc.2766G>T (p.Thr922=)
c.741G>T (p.Thr247=)
n.3140G>T
c.2784G>T (p.Thr928=)
c.1830G>T (n.1830G>T)
c.35G>T
c.744G>T (p.Thr248=)
c.286G>T
c.2787G>T (p.Thr929=)
c.2769G>T (p.Thr923=)
c.2607G>T (p.Thr869=)
c.2715G>T (p.Thr905=)
c.2697G>T (p.Thr899=)
c.2421G>T (p.Thr807=)
n.2996G>T
c.2589G>T (p.Thr863=)
c.2403G>T (p.Thr801=)
n.2999G>T
c.2694G>T (p.Thr898=)
c.2760G>T (p.Thr920=)
c.2712G>T (p.Thr904=)
c.2577G>T (p.Thr859=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835630C>ACA395408233ATXN2Lc.2767C>A (p.Pro923Thr)
c.742C>A (p.Pro248Thr)
n.3141C>A
c.2785C>A (p.Pro929Thr)
c.1831C>A (n.1831C>A)
c.36C>A
c.745C>A (p.Pro249Thr)
c.287C>A
c.2788C>A (p.Pro930Thr)
c.2770C>A (p.Pro924Thr)
c.2608C>A (p.Pro870Thr)
c.2716C>A (p.Pro906Thr)
c.2698C>A (p.Pro900Thr)
c.2422C>A (p.Pro808Thr)
n.2997C>A
c.2590C>A (p.Pro864Thr)
c.2404C>A (p.Pro802Thr)
n.3000C>A
c.2695C>A (p.Pro899Thr)
c.2761C>A (p.Pro921Thr)
c.2713C>A (p.Pro905Thr)
c.2578C>A (p.Pro860Thr)
16g.28835630C>GCA395408234ATXN2Lc.2767C>G (p.Pro923Ala)
c.742C>G (p.Pro248Ala)
n.3141C>G
c.2785C>G (p.Pro929Ala)
c.1831C>G (n.1831C>G)
c.36C>G
c.745C>G (p.Pro249Ala)
c.287C>G
c.2788C>G (p.Pro930Ala)
c.2770C>G (p.Pro924Ala)
c.2608C>G (p.Pro870Ala)
c.2716C>G (p.Pro906Ala)
c.2698C>G (p.Pro900Ala)
c.2422C>G (p.Pro808Ala)
n.2997C>G
c.2590C>G (p.Pro864Ala)
c.2404C>G (p.Pro802Ala)
n.3000C>G
c.2695C>G (p.Pro899Ala)
c.2761C>G (p.Pro921Ala)
c.2713C>G (p.Pro905Ala)
c.2578C>G (p.Pro860Ala)
16g.28835630C>TCA395408235ATXN2Lc.2767C>T (p.Pro923Ser)
c.742C>T (p.Pro248Ser)
n.3141C>T
c.2785C>T (p.Pro929Ser)
c.1831C>T (n.1831C>T)
c.36C>T
c.745C>T (p.Pro249Ser)
c.287C>T
c.2788C>T (p.Pro930Ser)
c.2770C>T (p.Pro924Ser)
c.2608C>T (p.Pro870Ser)
c.2716C>T (p.Pro906Ser)
c.2698C>T (p.Pro900Ser)
c.2422C>T (p.Pro808Ser)
n.2997C>T
c.2590C>T (p.Pro864Ser)
c.2404C>T (p.Pro802Ser)
n.3000C>T
c.2695C>T (p.Pro899Ser)
c.2761C>T (p.Pro921Ser)
c.2713C>T (p.Pro905Ser)
c.2578C>T (p.Pro860Ser)
16g.28835631C>ACA395408236ATXN2Lc.2768C>A (p.Pro923Gln)
c.743C>A (p.Pro248Gln)
n.3142C>A
c.2786C>A (p.Pro929Gln)
c.1832C>A (n.1832C>A)
c.37C>A
c.746C>A (p.Pro249Gln)
c.288C>A
c.2789C>A (p.Pro930Gln)
c.2771C>A (p.Pro924Gln)
c.2609C>A (p.Pro870Gln)
c.2717C>A (p.Pro906Gln)
c.2699C>A (p.Pro900Gln)
c.2423C>A (p.Pro808Gln)
n.2998C>A
c.2591C>A (p.Pro864Gln)
c.2405C>A (p.Pro802Gln)
n.3001C>A
c.2696C>A (p.Pro899Gln)
c.2762C>A (p.Pro921Gln)
c.2714C>A (p.Pro905Gln)
c.2579C>A (p.Pro860Gln)
 gnomAD v4
16g.28835631C=CA2215806341ATXN2Lc.2768C= (p.Pro923=)
c.743C= (p.Pro248=)
n.3142C=
c.2786C= (p.Pro929=)
c.1832C= (n.1832C=)
c.37C=
c.746C= (p.Pro249=)
c.288C=
c.2789C= (p.Pro930=)
c.2771C= (p.Pro924=)
c.2609C= (p.Pro870=)
c.2717C= (p.Pro906=)
c.2699C= (p.Pro900=)
c.2423C= (p.Pro808=)
n.2998C=
c.2591C= (p.Pro864=)
c.2405C= (p.Pro802=)
n.3001C=
c.2696C= (p.Pro899=)
c.2762C= (p.Pro921=)
c.2714C= (p.Pro905=)
c.2579C= (p.Pro860=)
16g.28835631C>GCA395408237ATXN2Lc.2768C>G (p.Pro923Arg)
c.743C>G (p.Pro248Arg)
n.3142C>G
c.2786C>G (p.Pro929Arg)
c.1832C>G (n.1832C>G)
c.37C>G
c.746C>G (p.Pro249Arg)
c.288C>G
c.2789C>G (p.Pro930Arg)
c.2771C>G (p.Pro924Arg)
c.2609C>G (p.Pro870Arg)
c.2717C>G (p.Pro906Arg)
c.2699C>G (p.Pro900Arg)
c.2423C>G (p.Pro808Arg)
n.2998C>G
c.2591C>G (p.Pro864Arg)
c.2405C>G (p.Pro802Arg)
n.3001C>G
c.2696C>G (p.Pro899Arg)
c.2762C>G (p.Pro921Arg)
c.2714C>G (p.Pro905Arg)
c.2579C>G (p.Pro860Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.28835631C>TCA395408238ATXN2Lc.2768C>T (p.Pro923Leu)
c.743C>T (p.Pro248Leu)
n.3142C>T
c.2786C>T (p.Pro929Leu)
c.1832C>T (n.1832C>T)
c.37C>T
c.746C>T (p.Pro249Leu)
c.288C>T
c.2789C>T (p.Pro930Leu)
c.2771C>T (p.Pro924Leu)
c.2609C>T (p.Pro870Leu)
c.2717C>T (p.Pro906Leu)
c.2699C>T (p.Pro900Leu)
c.2423C>T (p.Pro808Leu)
n.2998C>T
c.2591C>T (p.Pro864Leu)
c.2405C>T (p.Pro802Leu)
n.3001C>T
c.2696C>T (p.Pro899Leu)
c.2762C>T (p.Pro921Leu)
c.2714C>T (p.Pro905Leu)
c.2579C>T (p.Pro860Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.28835632G>ACA7985090ATXN2Lc.2769G>A (p.Pro923=)
c.744G>A (p.Pro248=)
n.3143G>A
c.2787G>A (p.Pro929=)
c.1833G>A (n.1833G>A)
c.38G>A
c.747G>A (p.Pro249=)
c.289G>A
c.2790G>A (p.Pro930=)
c.2772G>A (p.Pro924=)
c.2610G>A (p.Pro870=)
c.2718G>A (p.Pro906=)
c.2700G>A (p.Pro900=)
c.2424G>A (p.Pro808=)
n.2999G>A
c.2592G>A (p.Pro864=)
c.2406G>A (p.Pro802=)
n.3002G>A
c.2697G>A (p.Pro899=)
c.2763G>A (p.Pro921=)
c.2715G>A (p.Pro905=)
c.2580G>A (p.Pro860=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835632G>CCA494868679ATXN2Lc.2769G>C (p.Pro923=)
c.744G>C (p.Pro248=)
n.3143G>C
c.2787G>C (p.Pro929=)
c.1833G>C (n.1833G>C)
c.38G>C
c.747G>C (p.Pro249=)
c.289G>C
c.2790G>C (p.Pro930=)
c.2772G>C (p.Pro924=)
c.2610G>C (p.Pro870=)
c.2718G>C (p.Pro906=)
c.2700G>C (p.Pro900=)
c.2424G>C (p.Pro808=)
n.2999G>C
c.2592G>C (p.Pro864=)
c.2406G>C (p.Pro802=)
n.3002G>C
c.2697G>C (p.Pro899=)
c.2763G>C (p.Pro921=)
c.2715G>C (p.Pro905=)
c.2580G>C (p.Pro860=)
16g.28835632G=CA2215806348ATXN2Lc.2769G= (p.Pro923=)
c.744G= (p.Pro248=)
n.3143G=
c.2787G= (p.Pro929=)
c.1833G= (n.1833G=)
c.38G=
c.747G= (p.Pro249=)
c.289G=
c.2790G= (p.Pro930=)
c.2772G= (p.Pro924=)
c.2610G= (p.Pro870=)
c.2718G= (p.Pro906=)
c.2700G= (p.Pro900=)
c.2424G= (p.Pro808=)
n.2999G=
c.2592G= (p.Pro864=)
c.2406G= (p.Pro802=)
n.3002G=
c.2697G= (p.Pro899=)
c.2763G= (p.Pro921=)
c.2715G= (p.Pro905=)
c.2580G= (p.Pro860=)
16g.28835632G>TCA279230758ATXN2Lc.2769G>T (p.Pro923=)
c.744G>T (p.Pro248=)
n.3143G>T
c.2787G>T (p.Pro929=)
c.1833G>T (n.1833G>T)
c.38G>T
c.747G>T (p.Pro249=)
c.289G>T
c.2790G>T (p.Pro930=)
c.2772G>T (p.Pro924=)
c.2610G>T (p.Pro870=)
c.2718G>T (p.Pro906=)
c.2700G>T (p.Pro900=)
c.2424G>T (p.Pro808=)
n.2999G>T
c.2592G>T (p.Pro864=)
c.2406G>T (p.Pro802=)
n.3002G>T
c.2697G>T (p.Pro899=)
c.2763G>T (p.Pro921=)
c.2715G>T (p.Pro905=)
c.2580G>T (p.Pro860=)
 dbSNP
16g.28835633C>ACA395408240ATXN2Lc.2770C>A (p.Pro924Thr)
c.745C>A (p.Pro249Thr)
n.3144C>A
c.2788C>A (p.Pro930Thr)
c.1834C>A (n.1834C>A)
c.39C>A
c.748C>A (p.Pro250Thr)
c.290C>A
c.2791C>A (p.Pro931Thr)
c.2773C>A (p.Pro925Thr)
c.2611C>A (p.Pro871Thr)
c.2719C>A (p.Pro907Thr)
c.2701C>A (p.Pro901Thr)
c.2425C>A (p.Pro809Thr)
n.3000C>A
c.2593C>A (p.Pro865Thr)
c.2407C>A (p.Pro803Thr)
n.3003C>A
c.2698C>A (p.Pro900Thr)
c.2764C>A (p.Pro922Thr)
c.2716C>A (p.Pro906Thr)
c.2581C>A (p.Pro861Thr)
16g.28835633C>GCA395408241ATXN2Lc.2770C>G (p.Pro924Ala)
c.745C>G (p.Pro249Ala)
n.3144C>G
c.2788C>G (p.Pro930Ala)
c.1834C>G (n.1834C>G)
c.39C>G
c.748C>G (p.Pro250Ala)
c.290C>G
c.2791C>G (p.Pro931Ala)
c.2773C>G (p.Pro925Ala)
c.2611C>G (p.Pro871Ala)
c.2719C>G (p.Pro907Ala)
c.2701C>G (p.Pro901Ala)
c.2425C>G (p.Pro809Ala)
n.3000C>G
c.2593C>G (p.Pro865Ala)
c.2407C>G (p.Pro803Ala)
n.3003C>G
c.2698C>G (p.Pro900Ala)
c.2764C>G (p.Pro922Ala)
c.2716C>G (p.Pro906Ala)
c.2581C>G (p.Pro861Ala)
 COSMIC COSMIC COSMIC COSMIC
16g.28835633C>TCA395408239ATXN2Lc.2770C>T (p.Pro924Ser)
c.745C>T (p.Pro249Ser)
n.3144C>T
c.2788C>T (p.Pro930Ser)
c.1834C>T (n.1834C>T)
c.39C>T
c.748C>T (p.Pro250Ser)
c.290C>T
c.2791C>T (p.Pro931Ser)
c.2773C>T (p.Pro925Ser)
c.2611C>T (p.Pro871Ser)
c.2719C>T (p.Pro907Ser)
c.2701C>T (p.Pro901Ser)
c.2425C>T (p.Pro809Ser)
n.3000C>T
c.2593C>T (p.Pro865Ser)
c.2407C>T (p.Pro803Ser)
n.3003C>T
c.2698C>T (p.Pro900Ser)
c.2764C>T (p.Pro922Ser)
c.2716C>T (p.Pro906Ser)
c.2581C>T (p.Pro861Ser)
 gnomAD v4
16g.28835634C>ACA395408242ATXN2Lc.2771C>A (p.Pro924His)
c.746C>A (p.Pro249His)
n.3145C>A
c.2789C>A (p.Pro930His)
c.1835C>A (n.1835C>A)
c.40C>A
c.749C>A (p.Pro250His)
c.291C>A
c.2792C>A (p.Pro931His)
c.2774C>A (p.Pro925His)
c.2612C>A (p.Pro871His)
c.2720C>A (p.Pro907His)
c.2702C>A (p.Pro901His)
c.2426C>A (p.Pro809His)
n.3001C>A
c.2594C>A (p.Pro865His)
c.2408C>A (p.Pro803His)
n.3004C>A
c.2699C>A (p.Pro900His)
c.2765C>A (p.Pro922His)
c.2717C>A (p.Pro906His)
c.2582C>A (p.Pro861His)
16g.28835634C=CA2215806353ATXN2Lc.2771C= (p.Pro924=)
c.746C= (p.Pro249=)
n.3145C=
c.2789C= (p.Pro930=)
c.1835C= (n.1835C=)
c.40C=
c.749C= (p.Pro250=)
c.291C=
c.2792C= (p.Pro931=)
c.2774C= (p.Pro925=)
c.2612C= (p.Pro871=)
c.2720C= (p.Pro907=)
c.2702C= (p.Pro901=)
c.2426C= (p.Pro809=)
n.3001C=
c.2594C= (p.Pro865=)
c.2408C= (p.Pro803=)
n.3004C=
c.2699C= (p.Pro900=)
c.2765C= (p.Pro922=)
c.2717C= (p.Pro906=)
c.2582C= (p.Pro861=)
16g.28835634C>GCA395408243ATXN2Lc.2771C>G (p.Pro924Arg)
c.746C>G (p.Pro249Arg)
n.3145C>G
c.2789C>G (p.Pro930Arg)
c.1835C>G (n.1835C>G)
c.40C>G
c.749C>G (p.Pro250Arg)
c.291C>G
c.2792C>G (p.Pro931Arg)
c.2774C>G (p.Pro925Arg)
c.2612C>G (p.Pro871Arg)
c.2720C>G (p.Pro907Arg)
c.2702C>G (p.Pro901Arg)
c.2426C>G (p.Pro809Arg)
n.3001C>G
c.2594C>G (p.Pro865Arg)
c.2408C>G (p.Pro803Arg)
n.3004C>G
c.2699C>G (p.Pro900Arg)
c.2765C>G (p.Pro922Arg)
c.2717C>G (p.Pro906Arg)
c.2582C>G (p.Pro861Arg)
16g.28835634C>TCA395408244ATXN2Lc.2771C>T (p.Pro924Leu)
c.746C>T (p.Pro249Leu)
n.3145C>T
c.2789C>T (p.Pro930Leu)
c.1835C>T (n.1835C>T)
c.40C>T
c.749C>T (p.Pro250Leu)
c.291C>T
c.2792C>T (p.Pro931Leu)
c.2774C>T (p.Pro925Leu)
c.2612C>T (p.Pro871Leu)
c.2720C>T (p.Pro907Leu)
c.2702C>T (p.Pro901Leu)
c.2426C>T (p.Pro809Leu)
n.3001C>T
c.2594C>T (p.Pro865Leu)
c.2408C>T (p.Pro803Leu)
n.3004C>T
c.2699C>T (p.Pro900Leu)
c.2765C>T (p.Pro922Leu)
c.2717C>T (p.Pro906Leu)
c.2582C>T (p.Pro861Leu)
 dbSNP gnomAD v2
16g.28835635C>ACA494868702ATXN2Lc.2772C>A (p.Pro924=)
c.747C>A (p.Pro249=)
n.3146C>A
c.2790C>A (p.Pro930=)
c.1836C>A (n.1836C>A)
c.41C>A
c.750C>A (p.Pro250=)
c.292C>A
c.2793C>A (p.Pro931=)
c.2775C>A (p.Pro925=)
c.2613C>A (p.Pro871=)
c.2721C>A (p.Pro907=)
c.2703C>A (p.Pro901=)
c.2427C>A (p.Pro809=)
n.3002C>A
c.2595C>A (p.Pro865=)
c.2409C>A (p.Pro803=)
n.3005C>A
c.2700C>A (p.Pro900=)
c.2766C>A (p.Pro922=)
c.2718C>A (p.Pro906=)
c.2583C>A (p.Pro861=)
16g.28835635C=CA2215806356ATXN2Lc.2772C= (p.Pro924=)
c.747C= (p.Pro249=)
n.3146C=
c.2790C= (p.Pro930=)
c.1836C= (n.1836C=)
c.41C=
c.750C= (p.Pro250=)
c.292C=
c.2793C= (p.Pro931=)
c.2775C= (p.Pro925=)
c.2613C= (p.Pro871=)
c.2721C= (p.Pro907=)
c.2703C= (p.Pro901=)
c.2427C= (p.Pro809=)
n.3002C=
c.2595C= (p.Pro865=)
c.2409C= (p.Pro803=)
n.3005C=
c.2700C= (p.Pro900=)
c.2766C= (p.Pro922=)
c.2718C= (p.Pro906=)
c.2583C= (p.Pro861=)
16g.28835635C>GCA494868704ATXN2Lc.2772C>G (p.Pro924=)
c.747C>G (p.Pro249=)
n.3146C>G
c.2790C>G (p.Pro930=)
c.1836C>G (n.1836C>G)
c.41C>G
c.750C>G (p.Pro250=)
c.292C>G
c.2793C>G (p.Pro931=)
c.2775C>G (p.Pro925=)
c.2613C>G (p.Pro871=)
c.2721C>G (p.Pro907=)
c.2703C>G (p.Pro901=)
c.2427C>G (p.Pro809=)
n.3002C>G
c.2595C>G (p.Pro865=)
c.2409C>G (p.Pro803=)
n.3005C>G
c.2700C>G (p.Pro900=)
c.2766C>G (p.Pro922=)
c.2718C>G (p.Pro906=)
c.2583C>G (p.Pro861=)
16g.28835635C>TCA7985091ATXN2Lc.2772C>T (p.Pro924=)
c.747C>T (p.Pro249=)
n.3146C>T
c.2790C>T (p.Pro930=)
c.1836C>T (n.1836C>T)
c.41C>T
c.750C>T (p.Pro250=)
c.292C>T
c.2793C>T (p.Pro931=)
c.2775C>T (p.Pro925=)
c.2613C>T (p.Pro871=)
c.2721C>T (p.Pro907=)
c.2703C>T (p.Pro901=)
c.2427C>T (p.Pro809=)
n.3002C>T
c.2595C>T (p.Pro865=)
c.2409C>T (p.Pro803=)
n.3005C>T
c.2700C>T (p.Pro900=)
c.2766C>T (p.Pro922=)
c.2718C>T (p.Pro906=)
c.2583C>T (p.Pro861=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835636T>ACA395408245ATXN2Lc.2773T>A (p.Ser925Thr)
c.748T>A (p.Ser250Thr)
n.3147T>A
c.2791T>A (p.Ser931Thr)
c.1837T>A (n.1837T>A)
c.42T>A
c.751T>A (p.Ser251Thr)
c.293T>A
c.2794T>A (p.Ser932Thr)
c.2776T>A (p.Ser926Thr)
c.2614T>A (p.Ser872Thr)
c.2722T>A (p.Ser908Thr)
c.2704T>A (p.Ser902Thr)
c.2428T>A (p.Ser810Thr)
n.3003T>A
c.2596T>A (p.Ser866Thr)
c.2410T>A (p.Ser804Thr)
n.3006T>A
c.2701T>A (p.Ser901Thr)
c.2767T>A (p.Ser923Thr)
c.2719T>A (p.Ser907Thr)
c.2584T>A (p.Ser862Thr)
16g.28835636T>CCA395408246ATXN2Lc.2773T>C (p.Ser925Pro)
c.748T>C (p.Ser250Pro)
n.3147T>C
c.2791T>C (p.Ser931Pro)
c.1837T>C (n.1837T>C)
c.42T>C
c.751T>C (p.Ser251Pro)
c.293T>C
c.2794T>C (p.Ser932Pro)
c.2776T>C (p.Ser926Pro)
c.2614T>C (p.Ser872Pro)
c.2722T>C (p.Ser908Pro)
c.2704T>C (p.Ser902Pro)
c.2428T>C (p.Ser810Pro)
n.3003T>C
c.2596T>C (p.Ser866Pro)
c.2410T>C (p.Ser804Pro)
n.3006T>C
c.2701T>C (p.Ser901Pro)
c.2767T>C (p.Ser923Pro)
c.2719T>C (p.Ser907Pro)
c.2584T>C (p.Ser862Pro)
16g.28835636T>GCA395408247ATXN2Lc.2773T>G (p.Ser925Ala)
c.748T>G (p.Ser250Ala)
n.3147T>G
c.2791T>G (p.Ser931Ala)
c.1837T>G (n.1837T>G)
c.42T>G
c.751T>G (p.Ser251Ala)
c.293T>G
c.2794T>G (p.Ser932Ala)
c.2776T>G (p.Ser926Ala)
c.2614T>G (p.Ser872Ala)
c.2722T>G (p.Ser908Ala)
c.2704T>G (p.Ser902Ala)
c.2428T>G (p.Ser810Ala)
n.3003T>G
c.2596T>G (p.Ser866Ala)
c.2410T>G (p.Ser804Ala)
n.3006T>G
c.2701T>G (p.Ser901Ala)
c.2767T>G (p.Ser923Ala)
c.2719T>G (p.Ser907Ala)
c.2584T>G (p.Ser862Ala)
16g.28835637C>ACA395408248ATXN2Lc.2774C>A (p.Ser925Tyr)
c.749C>A (p.Ser250Tyr)
n.3148C>A
c.2792C>A (p.Ser931Tyr)
c.1838C>A (n.1838C>A)
c.43C>A
c.752C>A (p.Ser251Tyr)
c.294C>A
c.2795C>A (p.Ser932Tyr)
c.2777C>A (p.Ser926Tyr)
c.2615C>A (p.Ser872Tyr)
c.2723C>A (p.Ser908Tyr)
c.2705C>A (p.Ser902Tyr)
c.2429C>A (p.Ser810Tyr)
n.3004C>A
c.2597C>A (p.Ser866Tyr)
c.2411C>A (p.Ser804Tyr)
n.3007C>A
c.2702C>A (p.Ser901Tyr)
c.2768C>A (p.Ser923Tyr)
c.2720C>A (p.Ser907Tyr)
c.2585C>A (p.Ser862Tyr)
16g.28835637C>GCA395408249ATXN2Lc.2774C>G (p.Ser925Cys)
c.749C>G (p.Ser250Cys)
n.3148C>G
c.2792C>G (p.Ser931Cys)
c.1838C>G (n.1838C>G)
c.43C>G
c.752C>G (p.Ser251Cys)
c.294C>G
c.2795C>G (p.Ser932Cys)
c.2777C>G (p.Ser926Cys)
c.2615C>G (p.Ser872Cys)
c.2723C>G (p.Ser908Cys)
c.2705C>G (p.Ser902Cys)
c.2429C>G (p.Ser810Cys)
n.3004C>G
c.2597C>G (p.Ser866Cys)
c.2411C>G (p.Ser804Cys)
n.3007C>G
c.2702C>G (p.Ser901Cys)
c.2768C>G (p.Ser923Cys)
c.2720C>G (p.Ser907Cys)
c.2585C>G (p.Ser862Cys)
16g.28835637C>TCA395408250ATXN2Lc.2774C>T (p.Ser925Phe)
c.749C>T (p.Ser250Phe)
n.3148C>T
c.2792C>T (p.Ser931Phe)
c.1838C>T (n.1838C>T)
c.43C>T
c.752C>T (p.Ser251Phe)
c.294C>T
c.2795C>T (p.Ser932Phe)
c.2777C>T (p.Ser926Phe)
c.2615C>T (p.Ser872Phe)
c.2723C>T (p.Ser908Phe)
c.2705C>T (p.Ser902Phe)
c.2429C>T (p.Ser810Phe)
n.3004C>T
c.2597C>T (p.Ser866Phe)
c.2411C>T (p.Ser804Phe)
n.3007C>T
c.2702C>T (p.Ser901Phe)
c.2768C>T (p.Ser923Phe)
c.2720C>T (p.Ser907Phe)
c.2585C>T (p.Ser862Phe)
16g.28835638T>ACA494868723ATXN2Lc.2775T>A (p.Ser925=)
c.750T>A (p.Ser250=)
n.3149T>A
c.2793T>A (p.Ser931=)
c.1839T>A (n.1839T>A)
c.44T>A
c.753T>A (p.Ser251=)
c.295T>A
c.2796T>A (p.Ser932=)
c.2778T>A (p.Ser926=)
c.2616T>A (p.Ser872=)
c.2724T>A (p.Ser908=)
c.2706T>A (p.Ser902=)
c.2430T>A (p.Ser810=)
n.3005T>A
c.2598T>A (p.Ser866=)
c.2412T>A (p.Ser804=)
n.3008T>A
c.2703T>A (p.Ser901=)
c.2769T>A (p.Ser923=)
c.2721T>A (p.Ser907=)
c.2586T>A (p.Ser862=)
16g.28835638T>CCA494868724ATXN2Lc.2775T>C (p.Ser925=)
c.750T>C (p.Ser250=)
n.3149T>C
c.2793T>C (p.Ser931=)
c.1839T>C (n.1839T>C)
c.44T>C
c.753T>C (p.Ser251=)
c.295T>C
c.2796T>C (p.Ser932=)
c.2778T>C (p.Ser926=)
c.2616T>C (p.Ser872=)
c.2724T>C (p.Ser908=)
c.2706T>C (p.Ser902=)
c.2430T>C (p.Ser810=)
n.3005T>C
c.2598T>C (p.Ser866=)
c.2412T>C (p.Ser804=)
n.3008T>C
c.2703T>C (p.Ser901=)
c.2769T>C (p.Ser923=)
c.2721T>C (p.Ser907=)
c.2586T>C (p.Ser862=)
 dbSNP gnomAD v4
16g.28835638T>GCA494868727ATXN2Lc.2775T>G (p.Ser925=)
c.750T>G (p.Ser250=)
n.3149T>G
c.2793T>G (p.Ser931=)
c.1839T>G (n.1839T>G)
c.44T>G
c.753T>G (p.Ser251=)
c.295T>G
c.2796T>G (p.Ser932=)
c.2778T>G (p.Ser926=)
c.2616T>G (p.Ser872=)
c.2724T>G (p.Ser908=)
c.2706T>G (p.Ser902=)
c.2430T>G (p.Ser810=)
n.3005T>G
c.2598T>G (p.Ser866=)
c.2412T>G (p.Ser804=)
n.3008T>G
c.2703T>G (p.Ser901=)
c.2769T>G (p.Ser923=)
c.2721T>G (p.Ser907=)
c.2586T>G (p.Ser862=)
16g.28835638T=CA2215806359ATXN2Lc.2775T= (p.Ser925=)
c.750T= (p.Ser250=)
n.3149T=
c.2793T= (p.Ser931=)
c.1839T= (n.1839T=)
c.44T=
c.753T= (p.Ser251=)
c.295T=
c.2796T= (p.Ser932=)
c.2778T= (p.Ser926=)
c.2616T= (p.Ser872=)
c.2724T= (p.Ser908=)
c.2706T= (p.Ser902=)
c.2430T= (p.Ser810=)
n.3005T=
c.2598T= (p.Ser866=)
c.2412T= (p.Ser804=)
n.3008T=
c.2703T= (p.Ser901=)
c.2769T= (p.Ser923=)
c.2721T= (p.Ser907=)
c.2586T= (p.Ser862=)
16g.28835639C>ACA395408251ATXN2Lc.2776C>A (p.Leu926Met)
c.751C>A (p.Leu251Met)
n.3150C>A
c.2794C>A (p.Leu932Met)
c.1840C>A (n.1840C>A)
c.45C>A
c.754C>A (p.Leu252Met)
c.296C>A
c.2797C>A (p.Leu933Met)
c.2779C>A (p.Leu927Met)
c.2617C>A (p.Leu873Met)
c.2725C>A (p.Leu909Met)
c.2707C>A (p.Leu903Met)
c.2431C>A (p.Leu811Met)
n.3006C>A
c.2599C>A (p.Leu867Met)
c.2413C>A (p.Leu805Met)
n.3009C>A
c.2704C>A (p.Leu902Met)
c.2770C>A (p.Leu924Met)
c.2722C>A (p.Leu908Met)
c.2587C>A (p.Leu863Met)
16g.28835639C=CA2215806364ATXN2Lc.2776C= (p.Leu926=)
c.751C= (p.Leu251=)
n.3150C=
c.2794C= (p.Leu932=)
c.1840C= (n.1840C=)
c.45C=
c.754C= (p.Leu252=)
c.296C=
c.2797C= (p.Leu933=)
c.2779C= (p.Leu927=)
c.2617C= (p.Leu873=)
c.2725C= (p.Leu909=)
c.2707C= (p.Leu903=)
c.2431C= (p.Leu811=)
n.3006C=
c.2599C= (p.Leu867=)
c.2413C= (p.Leu805=)
n.3009C=
c.2704C= (p.Leu902=)
c.2770C= (p.Leu924=)
c.2722C= (p.Leu908=)
c.2587C= (p.Leu863=)
16g.28835639C>GCA395408252ATXN2Lc.2776C>G (p.Leu926Val)
c.751C>G (p.Leu251Val)
n.3150C>G
c.2794C>G (p.Leu932Val)
c.1840C>G (n.1840C>G)
c.45C>G
c.754C>G (p.Leu252Val)
c.296C>G
c.2797C>G (p.Leu933Val)
c.2779C>G (p.Leu927Val)
c.2617C>G (p.Leu873Val)
c.2725C>G (p.Leu909Val)
c.2707C>G (p.Leu903Val)
c.2431C>G (p.Leu811Val)
n.3006C>G
c.2599C>G (p.Leu867Val)
c.2413C>G (p.Leu805Val)
n.3009C>G
c.2704C>G (p.Leu902Val)
c.2770C>G (p.Leu924Val)
c.2722C>G (p.Leu908Val)
c.2587C>G (p.Leu863Val)
16g.28835639C>TCA494868737ATXN2Lc.2776C>T (p.Leu926=)
c.751C>T (p.Leu251=)
n.3150C>T
c.2794C>T (p.Leu932=)
c.1840C>T (n.1840C>T)
c.45C>T
c.754C>T (p.Leu252=)
c.296C>T
c.2797C>T (p.Leu933=)
c.2779C>T (p.Leu927=)
c.2617C>T (p.Leu873=)
c.2725C>T (p.Leu909=)
c.2707C>T (p.Leu903=)
c.2431C>T (p.Leu811=)
n.3006C>T
c.2599C>T (p.Leu867=)
c.2413C>T (p.Leu805=)
n.3009C>T
c.2704C>T (p.Leu902=)
c.2770C>T (p.Leu924=)
c.2722C>T (p.Leu908=)
c.2587C>T (p.Leu863=)
 dbSNP gnomAD v3 gnomAD v4
16g.28835640T>ACA395408255ATXN2Lc.2777T>A (p.Leu926Gln)
c.752T>A (p.Leu251Gln)
n.3151T>A
c.2795T>A (p.Leu932Gln)
c.1841T>A (n.1841T>A)
c.46T>A
c.755T>A (p.Leu252Gln)
c.297T>A
c.2798T>A (p.Leu933Gln)
c.2780T>A (p.Leu927Gln)
c.2618T>A (p.Leu873Gln)
c.2726T>A (p.Leu909Gln)
c.2708T>A (p.Leu903Gln)
c.2432T>A (p.Leu811Gln)
n.3007T>A
c.2600T>A (p.Leu867Gln)
c.2414T>A (p.Leu805Gln)
n.3010T>A
c.2705T>A (p.Leu902Gln)
c.2771T>A (p.Leu924Gln)
c.2723T>A (p.Leu908Gln)
c.2588T>A (p.Leu863Gln)
16g.28835640T>CCA395408254ATXN2Lc.2777T>C (p.Leu926Pro)
c.752T>C (p.Leu251Pro)
n.3151T>C
c.2795T>C (p.Leu932Pro)
c.1841T>C (n.1841T>C)
c.46T>C
c.755T>C (p.Leu252Pro)
c.297T>C
c.2798T>C (p.Leu933Pro)
c.2780T>C (p.Leu927Pro)
c.2618T>C (p.Leu873Pro)
c.2726T>C (p.Leu909Pro)
c.2708T>C (p.Leu903Pro)
c.2432T>C (p.Leu811Pro)
n.3007T>C
c.2600T>C (p.Leu867Pro)
c.2414T>C (p.Leu805Pro)
n.3010T>C
c.2705T>C (p.Leu902Pro)
c.2771T>C (p.Leu924Pro)
c.2723T>C (p.Leu908Pro)
c.2588T>C (p.Leu863Pro)
16g.28835640T>GCA395408253ATXN2Lc.2777T>G (p.Leu926Arg)
c.752T>G (p.Leu251Arg)
n.3151T>G
c.2795T>G (p.Leu932Arg)
c.1841T>G (n.1841T>G)
c.46T>G
c.755T>G (p.Leu252Arg)
c.297T>G
c.2798T>G (p.Leu933Arg)
c.2780T>G (p.Leu927Arg)
c.2618T>G (p.Leu873Arg)
c.2726T>G (p.Leu909Arg)
c.2708T>G (p.Leu903Arg)
c.2432T>G (p.Leu811Arg)
n.3007T>G
c.2600T>G (p.Leu867Arg)
c.2414T>G (p.Leu805Arg)
n.3010T>G
c.2705T>G (p.Leu902Arg)
c.2771T>G (p.Leu924Arg)
c.2723T>G (p.Leu908Arg)
c.2588T>G (p.Leu863Arg)
16g.28835641G>ACA494868748ATXN2Lc.2778G>A (p.Leu926=)
c.753G>A (p.Leu251=)
n.3152G>A
c.2796G>A (p.Leu932=)
c.1842G>A (n.1842G>A)
c.47G>A
c.756G>A (p.Leu252=)
c.298G>A
c.2799G>A (p.Leu933=)
c.2781G>A (p.Leu927=)
c.2619G>A (p.Leu873=)
c.2727G>A (p.Leu909=)
c.2709G>A (p.Leu903=)
c.2433G>A (p.Leu811=)
n.3008G>A
c.2601G>A (p.Leu867=)
c.2415G>A (p.Leu805=)
n.3011G>A
c.2706G>A (p.Leu902=)
c.2772G>A (p.Leu924=)
c.2724G>A (p.Leu908=)
c.2589G>A (p.Leu863=)
 dbSNP
16g.28835641G>CCA494868752ATXN2Lc.2778G>C (p.Leu926=)
c.753G>C (p.Leu251=)
n.3152G>C
c.2796G>C (p.Leu932=)
c.1842G>C (n.1842G>C)
c.47G>C
c.756G>C (p.Leu252=)
c.298G>C
c.2799G>C (p.Leu933=)
c.2781G>C (p.Leu927=)
c.2619G>C (p.Leu873=)
c.2727G>C (p.Leu909=)
c.2709G>C (p.Leu903=)
c.2433G>C (p.Leu811=)
n.3008G>C
c.2601G>C (p.Leu867=)
c.2415G>C (p.Leu805=)
n.3011G>C
c.2706G>C (p.Leu902=)
c.2772G>C (p.Leu924=)
c.2724G>C (p.Leu908=)
c.2589G>C (p.Leu863=)
16g.28835641G=CA2215806368ATXN2Lc.2778G= (p.Leu926=)
c.753G= (p.Leu251=)
n.3152G=
c.2796G= (p.Leu932=)
c.1842G= (n.1842G=)
c.47G=
c.756G= (p.Leu252=)
c.298G=
c.2799G= (p.Leu933=)
c.2781G= (p.Leu927=)
c.2619G= (p.Leu873=)
c.2727G= (p.Leu909=)
c.2709G= (p.Leu903=)
c.2433G= (p.Leu811=)
n.3008G=
c.2601G= (p.Leu867=)
c.2415G= (p.Leu805=)
n.3011G=
c.2706G= (p.Leu902=)
c.2772G= (p.Leu924=)
c.2724G= (p.Leu908=)
c.2589G= (p.Leu863=)
16g.28835641G>TCA494868754ATXN2Lc.2778G>T (p.Leu926=)
c.753G>T (p.Leu251=)
n.3152G>T
c.2796G>T (p.Leu932=)
c.1842G>T (n.1842G>T)
c.47G>T
c.756G>T (p.Leu252=)
c.298G>T
c.2799G>T (p.Leu933=)
c.2781G>T (p.Leu927=)
c.2619G>T (p.Leu873=)
c.2727G>T (p.Leu909=)
c.2709G>T (p.Leu903=)
c.2433G>T (p.Leu811=)
n.3008G>T
c.2601G>T (p.Leu867=)
c.2415G>T (p.Leu805=)
n.3011G>T
c.2706G>T (p.Leu902=)
c.2772G>T (p.Leu924=)
c.2724G>T (p.Leu908=)
c.2589G>T (p.Leu863=)
16g.28835642C>ACA395408256ATXN2Lc.2779C>A (p.Pro927Thr)
c.754C>A (p.Pro252Thr)
n.3153C>A
c.2797C>A (p.Pro933Thr)
c.1843C>A (n.1843C>A)
c.48C>A
c.757C>A (p.Pro253Thr)
c.299C>A
c.2800C>A (p.Pro934Thr)
c.2782C>A (p.Pro928Thr)
c.2620C>A (p.Pro874Thr)
c.2728C>A (p.Pro910Thr)
c.2710C>A (p.Pro904Thr)
c.2434C>A (p.Pro812Thr)
n.3009C>A
c.2602C>A (p.Pro868Thr)
c.2416C>A (p.Pro806Thr)
n.3012C>A
c.2707C>A (p.Pro903Thr)
c.2773C>A (p.Pro925Thr)
c.2725C>A (p.Pro909Thr)
c.2590C>A (p.Pro864Thr)
 gnomAD v4
16g.28835642C>GCA395408257ATXN2Lc.2779C>G (p.Pro927Ala)
c.754C>G (p.Pro252Ala)
n.3153C>G
c.2797C>G (p.Pro933Ala)
c.1843C>G (n.1843C>G)
c.48C>G
c.757C>G (p.Pro253Ala)
c.299C>G
c.2800C>G (p.Pro934Ala)
c.2782C>G (p.Pro928Ala)
c.2620C>G (p.Pro874Ala)
c.2728C>G (p.Pro910Ala)
c.2710C>G (p.Pro904Ala)
c.2434C>G (p.Pro812Ala)
n.3009C>G
c.2602C>G (p.Pro868Ala)
c.2416C>G (p.Pro806Ala)
n.3012C>G
c.2707C>G (p.Pro903Ala)
c.2773C>G (p.Pro925Ala)
c.2725C>G (p.Pro909Ala)
c.2590C>G (p.Pro864Ala)
 gnomAD v4
16g.28835642C>TCA395408258ATXN2Lc.2779C>T (p.Pro927Ser)
c.754C>T (p.Pro252Ser)
n.3153C>T
c.2797C>T (p.Pro933Ser)
c.1843C>T (n.1843C>T)
c.48C>T
c.757C>T (p.Pro253Ser)
c.299C>T
c.2800C>T (p.Pro934Ser)
c.2782C>T (p.Pro928Ser)
c.2620C>T (p.Pro874Ser)
c.2728C>T (p.Pro910Ser)
c.2710C>T (p.Pro904Ser)
c.2434C>T (p.Pro812Ser)
n.3009C>T
c.2602C>T (p.Pro868Ser)
c.2416C>T (p.Pro806Ser)
n.3012C>T
c.2707C>T (p.Pro903Ser)
c.2773C>T (p.Pro925Ser)
c.2725C>T (p.Pro909Ser)
c.2590C>T (p.Pro864Ser)
16g.28835643C>ACA395408259ATXN2Lc.2780C>A (p.Pro927Gln)
c.755C>A (p.Pro252Gln)
n.3154C>A
c.2798C>A (p.Pro933Gln)
c.1844C>A (n.1844C>A)
c.49C>A
c.758C>A (p.Pro253Gln)
c.300C>A
c.2801C>A (p.Pro934Gln)
c.2783C>A (p.Pro928Gln)
c.2621C>A (p.Pro874Gln)
c.2729C>A (p.Pro910Gln)
c.2711C>A (p.Pro904Gln)
c.2435C>A (p.Pro812Gln)
n.3010C>A
c.2603C>A (p.Pro868Gln)
c.2417C>A (p.Pro806Gln)
n.3013C>A
c.2708C>A (p.Pro903Gln)
c.2774C>A (p.Pro925Gln)
c.2726C>A (p.Pro909Gln)
c.2591C>A (p.Pro864Gln)
16g.28835643C=CA2215806372ATXN2Lc.2780C= (p.Pro927=)
c.755C= (p.Pro252=)
n.3154C=
c.2798C= (p.Pro933=)
c.1844C= (n.1844C=)
c.49C=
c.758C= (p.Pro253=)
c.300C=
c.2801C= (p.Pro934=)
c.2783C= (p.Pro928=)
c.2621C= (p.Pro874=)
c.2729C= (p.Pro910=)
c.2711C= (p.Pro904=)
c.2435C= (p.Pro812=)
n.3010C=
c.2603C= (p.Pro868=)
c.2417C= (p.Pro806=)
n.3013C=
c.2708C= (p.Pro903=)
c.2774C= (p.Pro925=)
c.2726C= (p.Pro909=)
c.2591C= (p.Pro864=)
16g.28835643C>GCA395408260ATXN2Lc.2780C>G (p.Pro927Arg)
c.755C>G (p.Pro252Arg)
n.3154C>G
c.2798C>G (p.Pro933Arg)
c.1844C>G (n.1844C>G)
c.49C>G
c.758C>G (p.Pro253Arg)
c.300C>G
c.2801C>G (p.Pro934Arg)
c.2783C>G (p.Pro928Arg)
c.2621C>G (p.Pro874Arg)
c.2729C>G (p.Pro910Arg)
c.2711C>G (p.Pro904Arg)
c.2435C>G (p.Pro812Arg)
n.3010C>G
c.2603C>G (p.Pro868Arg)
c.2417C>G (p.Pro806Arg)
n.3013C>G
c.2708C>G (p.Pro903Arg)
c.2774C>G (p.Pro925Arg)
c.2726C>G (p.Pro909Arg)
c.2591C>G (p.Pro864Arg)
16g.28835643C>TCA395408261ATXN2Lc.2780C>T (p.Pro927Leu)
c.755C>T (p.Pro252Leu)
n.3154C>T
c.2798C>T (p.Pro933Leu)
c.1844C>T (n.1844C>T)
c.49C>T
c.758C>T (p.Pro253Leu)
c.300C>T
c.2801C>T (p.Pro934Leu)
c.2783C>T (p.Pro928Leu)
c.2621C>T (p.Pro874Leu)
c.2729C>T (p.Pro910Leu)
c.2711C>T (p.Pro904Leu)
c.2435C>T (p.Pro812Leu)
n.3010C>T
c.2603C>T (p.Pro868Leu)
c.2417C>T (p.Pro806Leu)
n.3013C>T
c.2708C>T (p.Pro903Leu)
c.2774C>T (p.Pro925Leu)
c.2726C>T (p.Pro909Leu)
c.2591C>T (p.Pro864Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.28835644A=CA2215806375ATXN2Lc.2781A= (p.Pro927=)
c.756A= (p.Pro252=)
n.3155A=
c.2799A= (p.Pro933=)
c.1845A= (n.1845A=)
c.50A=
c.759A= (p.Pro253=)
c.301A=
c.2802A= (p.Pro934=)
c.2784A= (p.Pro928=)
c.2622A= (p.Pro874=)
c.2730A= (p.Pro910=)
c.2712A= (p.Pro904=)
c.2436A= (p.Pro812=)
n.3011A=
c.2604A= (p.Pro868=)
c.2418A= (p.Pro806=)
n.3014A=
c.2709A= (p.Pro903=)
c.2775A= (p.Pro925=)
c.2727A= (p.Pro909=)
c.2592A= (p.Pro864=)
16g.28835644A>CCA7985092ATXN2Lc.2781A>C (p.Pro927=)
c.756A>C (p.Pro252=)
n.3155A>C
c.2799A>C (p.Pro933=)
c.1845A>C (n.1845A>C)
c.50A>C
c.759A>C (p.Pro253=)
c.301A>C
c.2802A>C (p.Pro934=)
c.2784A>C (p.Pro928=)
c.2622A>C (p.Pro874=)
c.2730A>C (p.Pro910=)
c.2712A>C (p.Pro904=)
c.2436A>C (p.Pro812=)
n.3011A>C
c.2604A>C (p.Pro868=)
c.2418A>C (p.Pro806=)
n.3014A>C
c.2709A>C (p.Pro903=)
c.2775A>C (p.Pro925=)
c.2727A>C (p.Pro909=)
c.2592A>C (p.Pro864=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835644A>GCA494868777ATXN2Lc.2781A>G (p.Pro927=)
c.756A>G (p.Pro252=)
n.3155A>G
c.2799A>G (p.Pro933=)
c.1845A>G (n.1845A>G)
c.50A>G
c.759A>G (p.Pro253=)
c.301A>G
c.2802A>G (p.Pro934=)
c.2784A>G (p.Pro928=)
c.2622A>G (p.Pro874=)
c.2730A>G (p.Pro910=)
c.2712A>G (p.Pro904=)
c.2436A>G (p.Pro812=)
n.3011A>G
c.2604A>G (p.Pro868=)
c.2418A>G (p.Pro806=)
n.3014A>G
c.2709A>G (p.Pro903=)
c.2775A>G (p.Pro925=)
c.2727A>G (p.Pro909=)
c.2592A>G (p.Pro864=)
16g.28835644A>TCA494868778ATXN2Lc.2781A>T (p.Pro927=)
c.756A>T (p.Pro252=)
n.3155A>T
c.2799A>T (p.Pro933=)
c.1845A>T (n.1845A>T)
c.50A>T
c.759A>T (p.Pro253=)
c.301A>T
c.2802A>T (p.Pro934=)
c.2784A>T (p.Pro928=)
c.2622A>T (p.Pro874=)
c.2730A>T (p.Pro910=)
c.2712A>T (p.Pro904=)
c.2436A>T (p.Pro812=)
n.3011A>T
c.2604A>T (p.Pro868=)
c.2418A>T (p.Pro806=)
n.3014A>T
c.2709A>T (p.Pro903=)
c.2775A>T (p.Pro925=)
c.2727A>T (p.Pro909=)
c.2592A>T (p.Pro864=)
16g.28835645C>ACA395408262ATXN2Lc.2782C>A (p.Pro928Thr)
c.757C>A (p.Pro253Thr)
n.3156C>A
c.2800C>A (p.Pro934Thr)
c.1846C>A (n.1846C>A)
c.51C>A
c.760C>A (p.Pro254Thr)
c.302C>A
c.2803C>A (p.Pro935Thr)
c.2785C>A (p.Pro929Thr)
c.2623C>A (p.Pro875Thr)
c.2731C>A (p.Pro911Thr)
c.2713C>A (p.Pro905Thr)
c.2437C>A (p.Pro813Thr)
n.3012C>A
c.2605C>A (p.Pro869Thr)
c.2419C>A (p.Pro807Thr)
n.3015C>A
c.2710C>A (p.Pro904Thr)
c.2776C>A (p.Pro926Thr)
c.2728C>A (p.Pro910Thr)
c.2593C>A (p.Pro865Thr)
16g.28835645C>GCA395408263ATXN2Lc.2782C>G (p.Pro928Ala)
c.757C>G (p.Pro253Ala)
n.3156C>G
c.2800C>G (p.Pro934Ala)
c.1846C>G (n.1846C>G)
c.51C>G
c.760C>G (p.Pro254Ala)
c.302C>G
c.2803C>G (p.Pro935Ala)
c.2785C>G (p.Pro929Ala)
c.2623C>G (p.Pro875Ala)
c.2731C>G (p.Pro911Ala)
c.2713C>G (p.Pro905Ala)
c.2437C>G (p.Pro813Ala)
n.3012C>G
c.2605C>G (p.Pro869Ala)
c.2419C>G (p.Pro807Ala)
n.3015C>G
c.2710C>G (p.Pro904Ala)
c.2776C>G (p.Pro926Ala)
c.2728C>G (p.Pro910Ala)
c.2593C>G (p.Pro865Ala)
16g.28835645C>TCA395408264ATXN2Lc.2782C>T (p.Pro928Ser)
c.757C>T (p.Pro253Ser)
n.3156C>T
c.2800C>T (p.Pro934Ser)
c.1846C>T (n.1846C>T)
c.51C>T
c.760C>T (p.Pro254Ser)
c.302C>T
c.2803C>T (p.Pro935Ser)
c.2785C>T (p.Pro929Ser)
c.2623C>T (p.Pro875Ser)
c.2731C>T (p.Pro911Ser)
c.2713C>T (p.Pro905Ser)
c.2437C>T (p.Pro813Ser)
n.3012C>T
c.2605C>T (p.Pro869Ser)
c.2419C>T (p.Pro807Ser)
n.3015C>T
c.2710C>T (p.Pro904Ser)
c.2776C>T (p.Pro926Ser)
c.2728C>T (p.Pro910Ser)
c.2593C>T (p.Pro865Ser)
 gnomAD v4
16g.28835646C>ACA7985093ATXN2Lc.2783C>A (p.Pro928Gln)
c.758C>A (p.Pro253Gln)
n.3157C>A
c.2801C>A (p.Pro934Gln)
c.1847C>A (n.1847C>A)
c.52C>A
c.761C>A (p.Pro254Gln)
c.303C>A
c.2804C>A (p.Pro935Gln)
c.2786C>A (p.Pro929Gln)
c.2624C>A (p.Pro875Gln)
c.2732C>A (p.Pro911Gln)
c.2714C>A (p.Pro905Gln)
c.2438C>A (p.Pro813Gln)
n.3013C>A
c.2606C>A (p.Pro869Gln)
c.2420C>A (p.Pro807Gln)
n.3016C>A
c.2711C>A (p.Pro904Gln)
c.2777C>A (p.Pro926Gln)
c.2729C>A (p.Pro910Gln)
c.2594C>A (p.Pro865Gln)
 dbSNP ExAC gnomAD v2
16g.28835646C=CA2215806378ATXN2Lc.2783C= (p.Pro928=)
c.758C= (p.Pro253=)
n.3157C=
c.2801C= (p.Pro934=)
c.1847C= (n.1847C=)
c.52C=
c.761C= (p.Pro254=)
c.303C=
c.2804C= (p.Pro935=)
c.2786C= (p.Pro929=)
c.2624C= (p.Pro875=)
c.2732C= (p.Pro911=)
c.2714C= (p.Pro905=)
c.2438C= (p.Pro813=)
n.3013C=
c.2606C= (p.Pro869=)
c.2420C= (p.Pro807=)
n.3016C=
c.2711C= (p.Pro904=)
c.2777C= (p.Pro926=)
c.2729C= (p.Pro910=)
c.2594C= (p.Pro865=)
16g.28835646C>GCA395408265ATXN2Lc.2783C>G (p.Pro928Arg)
c.758C>G (p.Pro253Arg)
n.3157C>G
c.2801C>G (p.Pro934Arg)
c.1847C>G (n.1847C>G)
c.52C>G
c.761C>G (p.Pro254Arg)
c.303C>G
c.2804C>G (p.Pro935Arg)
c.2786C>G (p.Pro929Arg)
c.2624C>G (p.Pro875Arg)
c.2732C>G (p.Pro911Arg)
c.2714C>G (p.Pro905Arg)
c.2438C>G (p.Pro813Arg)
n.3013C>G
c.2606C>G (p.Pro869Arg)
c.2420C>G (p.Pro807Arg)
n.3016C>G
c.2711C>G (p.Pro904Arg)
c.2777C>G (p.Pro926Arg)
c.2729C>G (p.Pro910Arg)
c.2594C>G (p.Pro865Arg)
16g.28835646C>TCA395408266ATXN2Lc.2783C>T (p.Pro928Leu)
c.758C>T (p.Pro253Leu)
n.3157C>T
c.2801C>T (p.Pro934Leu)
c.1847C>T (n.1847C>T)
c.52C>T
c.761C>T (p.Pro254Leu)
c.303C>T
c.2804C>T (p.Pro935Leu)
c.2786C>T (p.Pro929Leu)
c.2624C>T (p.Pro875Leu)
c.2732C>T (p.Pro911Leu)
c.2714C>T (p.Pro905Leu)
c.2438C>T (p.Pro813Leu)
n.3013C>T
c.2606C>T (p.Pro869Leu)
c.2420C>T (p.Pro807Leu)
n.3016C>T
c.2711C>T (p.Pro904Leu)
c.2777C>T (p.Pro926Leu)
c.2729C>T (p.Pro910Leu)
c.2594C>T (p.Pro865Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835647G>ACA494868798ATXN2Lc.2784G>A (p.Pro928=)
c.759G>A (p.Pro253=)
n.3158G>A
c.2802G>A (p.Pro934=)
c.1848G>A (n.1848G>A)
c.53G>A
c.762G>A (p.Pro254=)
c.304G>A
c.2805G>A (p.Pro935=)
c.2787G>A (p.Pro929=)
c.2625G>A (p.Pro875=)
c.2733G>A (p.Pro911=)
c.2715G>A (p.Pro905=)
c.2439G>A (p.Pro813=)
n.3014G>A
c.2607G>A (p.Pro869=)
c.2421G>A (p.Pro807=)
n.3017G>A
c.2712G>A (p.Pro904=)
c.2778G>A (p.Pro926=)
c.2730G>A (p.Pro910=)
c.2595G>A (p.Pro865=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.28835647G>CCA494868800ATXN2Lc.2784G>C (p.Pro928=)
c.759G>C (p.Pro253=)
n.3158G>C
c.2802G>C (p.Pro934=)
c.1848G>C (n.1848G>C)
c.53G>C
c.762G>C (p.Pro254=)
c.304G>C
c.2805G>C (p.Pro935=)
c.2787G>C (p.Pro929=)
c.2625G>C (p.Pro875=)
c.2733G>C (p.Pro911=)
c.2715G>C (p.Pro905=)
c.2439G>C (p.Pro813=)
n.3014G>C
c.2607G>C (p.Pro869=)
c.2421G>C (p.Pro807=)
n.3017G>C
c.2712G>C (p.Pro904=)
c.2778G>C (p.Pro926=)
c.2730G>C (p.Pro910=)
c.2595G>C (p.Pro865=)
16g.28835647G=CA2215806385ATXN2Lc.2784G= (p.Pro928=)
c.759G= (p.Pro253=)
n.3158G=
c.2802G= (p.Pro934=)
c.1848G= (n.1848G=)
c.53G=
c.762G= (p.Pro254=)
c.304G=
c.2805G= (p.Pro935=)
c.2787G= (p.Pro929=)
c.2625G= (p.Pro875=)
c.2733G= (p.Pro911=)
c.2715G= (p.Pro905=)
c.2439G= (p.Pro813=)
n.3014G=
c.2607G= (p.Pro869=)
c.2421G= (p.Pro807=)
n.3017G=
c.2712G= (p.Pro904=)
c.2778G= (p.Pro926=)
c.2730G= (p.Pro910=)
c.2595G= (p.Pro865=)
16g.28835647G>TCA494868795ATXN2Lc.2784G>T (p.Pro928=)
c.759G>T (p.Pro253=)
n.3158G>T
c.2802G>T (p.Pro934=)
c.1848G>T (n.1848G>T)
c.53G>T
c.762G>T (p.Pro254=)
c.304G>T
c.2805G>T (p.Pro935=)
c.2787G>T (p.Pro929=)
c.2625G>T (p.Pro875=)
c.2733G>T (p.Pro911=)
c.2715G>T (p.Pro905=)
c.2439G>T (p.Pro813=)
n.3014G>T
c.2607G>T (p.Pro869=)
c.2421G>T (p.Pro807=)
n.3017G>T
c.2712G>T (p.Pro904=)
c.2778G>T (p.Pro926=)
c.2730G>T (p.Pro910=)
c.2595G>T (p.Pro865=)
 gnomAD v4
16g.28835648G>ACA395408269ATXN2Lc.2785G>A (p.Gly929Arg)
c.760G>A (p.Gly254Arg)
n.3159G>A
c.2803G>A (p.Gly935Arg)
c.1849G>A (n.1849G>A)
c.54G>A
c.763G>A (p.Gly255Arg)
c.305G>A
c.2806G>A (p.Gly936Arg)
c.2788G>A (p.Gly930Arg)
c.2626G>A (p.Gly876Arg)
c.2734G>A (p.Gly912Arg)
c.2716G>A (p.Gly906Arg)
c.2440G>A (p.Gly814Arg)
n.3015G>A
c.2608G>A (p.Gly870Arg)
c.2422G>A (p.Gly808Arg)
n.3018G>A
c.2713G>A (p.Gly905Arg)
c.2779G>A (p.Gly927Arg)
c.2731G>A (p.Gly911Arg)
c.2596G>A (p.Gly866Arg)
16g.28835648G>CCA395408268ATXN2Lc.2785G>C (p.Gly929Arg)
c.760G>C (p.Gly254Arg)
n.3159G>C
c.2803G>C (p.Gly935Arg)
c.1849G>C (n.1849G>C)
c.54G>C
c.763G>C (p.Gly255Arg)
c.305G>C
c.2806G>C (p.Gly936Arg)
c.2788G>C (p.Gly930Arg)
c.2626G>C (p.Gly876Arg)
c.2734G>C (p.Gly912Arg)
c.2716G>C (p.Gly906Arg)
c.2440G>C (p.Gly814Arg)
n.3015G>C
c.2608G>C (p.Gly870Arg)
c.2422G>C (p.Gly808Arg)
n.3018G>C
c.2713G>C (p.Gly905Arg)
c.2779G>C (p.Gly927Arg)
c.2731G>C (p.Gly911Arg)
c.2596G>C (p.Gly866Arg)
16g.28835648G>TCA395408267ATXN2Lc.2785G>T (p.Gly929Ter)
c.760G>T (p.Gly254Ter)
n.3159G>T
c.2803G>T (p.Gly935Ter)
c.1849G>T (n.1849G>T)
c.54G>T
c.763G>T (p.Gly255Ter)
c.305G>T
c.2806G>T (p.Gly936Ter)
c.2788G>T (p.Gly930Ter)
c.2626G>T (p.Gly876Ter)
c.2734G>T (p.Gly912Ter)
c.2716G>T (p.Gly906Ter)
c.2440G>T (p.Gly814Ter)
n.3015G>T
c.2608G>T (p.Gly870Ter)
c.2422G>T (p.Gly808Ter)
n.3018G>T
c.2713G>T (p.Gly905Ter)
c.2779G>T (p.Gly927Ter)
c.2731G>T (p.Gly911Ter)
c.2596G>T (p.Gly866Ter)
16g.28835649G>ACA395408270ATXN2Lc.2786G>A (p.Gly929Glu)
c.761G>A (p.Gly254Glu)
n.3160G>A
c.2804G>A (p.Gly935Glu)
c.1850G>A (n.1850G>A)
c.55G>A
c.764G>A (p.Gly255Glu)
c.306G>A
c.2807G>A (p.Gly936Glu)
c.2789G>A (p.Gly930Glu)
c.2627G>A (p.Gly876Glu)
c.2735G>A (p.Gly912Glu)
c.2717G>A (p.Gly906Glu)
c.2441G>A (p.Gly814Glu)
n.3016G>A
c.2609G>A (p.Gly870Glu)
c.2423G>A (p.Gly808Glu)
n.3019G>A
c.2714G>A (p.Gly905Glu)
c.2780G>A (p.Gly927Glu)
c.2732G>A (p.Gly911Glu)
c.2597G>A (p.Gly866Glu)
16g.28835649G>CCA395408272ATXN2Lc.2786G>C (p.Gly929Ala)
c.761G>C (p.Gly254Ala)
n.3160G>C
c.2804G>C (p.Gly935Ala)
c.1850G>C (n.1850G>C)
c.55G>C
c.764G>C (p.Gly255Ala)
c.306G>C
c.2807G>C (p.Gly936Ala)
c.2789G>C (p.Gly930Ala)
c.2627G>C (p.Gly876Ala)
c.2735G>C (p.Gly912Ala)
c.2717G>C (p.Gly906Ala)
c.2441G>C (p.Gly814Ala)
n.3016G>C
c.2609G>C (p.Gly870Ala)
c.2423G>C (p.Gly808Ala)
n.3019G>C
c.2714G>C (p.Gly905Ala)
c.2780G>C (p.Gly927Ala)
c.2732G>C (p.Gly911Ala)
c.2597G>C (p.Gly866Ala)
16g.28835649G>TCA395408271ATXN2Lc.2786G>T (p.Gly929Val)
c.761G>T (p.Gly254Val)
n.3160G>T
c.2804G>T (p.Gly935Val)
c.1850G>T (n.1850G>T)
c.55G>T
c.764G>T (p.Gly255Val)
c.306G>T
c.2807G>T (p.Gly936Val)
c.2789G>T (p.Gly930Val)
c.2627G>T (p.Gly876Val)
c.2735G>T (p.Gly912Val)
c.2717G>T (p.Gly906Val)
c.2441G>T (p.Gly814Val)
n.3016G>T
c.2609G>T (p.Gly870Val)
c.2423G>T (p.Gly808Val)
n.3019G>T
c.2714G>T (p.Gly905Val)
c.2780G>T (p.Gly927Val)
c.2732G>T (p.Gly911Val)
c.2597G>T (p.Gly866Val)
16g.28835650A>CCA494868822ATXN2Lc.2787A>C (p.Gly929=)
c.762A>C (p.Gly254=)
n.3161A>C
c.2805A>C (p.Gly935=)
c.1851A>C (n.1851A>C)
c.56A>C
c.765A>C (p.Gly255=)
c.307A>C
c.2808A>C (p.Gly936=)
c.2790A>C (p.Gly930=)
c.2628A>C (p.Gly876=)
c.2736A>C (p.Gly912=)
c.2718A>C (p.Gly906=)
c.2442A>C (p.Gly814=)
n.3017A>C
c.2610A>C (p.Gly870=)
c.2424A>C (p.Gly808=)
n.3020A>C
c.2715A>C (p.Gly905=)
c.2781A>C (p.Gly927=)
c.2733A>C (p.Gly911=)
c.2598A>C (p.Gly866=)
16g.28835650A>GCA494868834ATXN2Lc.2787A>G (p.Gly929=)
c.762A>G (p.Gly254=)
n.3161A>G
c.2805A>G (p.Gly935=)
c.1851A>G (n.1851A>G)
c.56A>G
c.765A>G (p.Gly255=)
c.307A>G
c.2808A>G (p.Gly936=)
c.2790A>G (p.Gly930=)
c.2628A>G (p.Gly876=)
c.2736A>G (p.Gly912=)
c.2718A>G (p.Gly906=)
c.2442A>G (p.Gly814=)
n.3017A>G
c.2610A>G (p.Gly870=)
c.2424A>G (p.Gly808=)
n.3020A>G
c.2715A>G (p.Gly905=)
c.2781A>G (p.Gly927=)
c.2733A>G (p.Gly911=)
c.2598A>G (p.Gly866=)
16g.28835650A>TCA494868826ATXN2Lc.2787A>T (p.Gly929=)
c.762A>T (p.Gly254=)
n.3161A>T
c.2805A>T (p.Gly935=)
c.1851A>T (n.1851A>T)
c.56A>T
c.765A>T (p.Gly255=)
c.307A>T
c.2808A>T (p.Gly936=)
c.2790A>T (p.Gly930=)
c.2628A>T (p.Gly876=)
c.2736A>T (p.Gly912=)
c.2718A>T (p.Gly906=)
c.2442A>T (p.Gly814=)
n.3017A>T
c.2610A>T (p.Gly870=)
c.2424A>T (p.Gly808=)
n.3020A>T
c.2715A>T (p.Gly905=)
c.2781A>T (p.Gly927=)
c.2733A>T (p.Gly911=)
c.2598A>T (p.Gly866=)
16g.28835651C>ACA395408273ATXN2Lc.2788C>A (p.Pro930Thr)
c.763C>A (p.Pro255Thr)
n.3162C>A
c.2806C>A (p.Pro936Thr)
c.1852C>A (n.1852C>A)
c.57C>A
c.766C>A (p.Pro256Thr)
c.308C>A
c.2809C>A (p.Pro937Thr)
c.2791C>A (p.Pro931Thr)
c.2629C>A (p.Pro877Thr)
c.2737C>A (p.Pro913Thr)
c.2719C>A (p.Pro907Thr)
c.2443C>A (p.Pro815Thr)
n.3018C>A
c.2611C>A (p.Pro871Thr)
c.2425C>A (p.Pro809Thr)
n.3021C>A
c.2716C>A (p.Pro906Thr)
c.2782C>A (p.Pro928Thr)
c.2734C>A (p.Pro912Thr)
c.2599C>A (p.Pro867Thr)
16g.28835651C=CA2215806389ATXN2Lc.2788C= (p.Pro930=)
c.763C= (p.Pro255=)
n.3162C=
c.2806C= (p.Pro936=)
c.1852C= (n.1852C=)
c.57C=
c.766C= (p.Pro256=)
c.308C=
c.2809C= (p.Pro937=)
c.2791C= (p.Pro931=)
c.2629C= (p.Pro877=)
c.2737C= (p.Pro913=)
c.2719C= (p.Pro907=)
c.2443C= (p.Pro815=)
n.3018C=
c.2611C= (p.Pro871=)
c.2425C= (p.Pro809=)
n.3021C=
c.2716C= (p.Pro906=)
c.2782C= (p.Pro928=)
c.2734C= (p.Pro912=)
c.2599C= (p.Pro867=)
16g.28835651C>GCA395408275ATXN2Lc.2788C>G (p.Pro930Ala)
c.763C>G (p.Pro255Ala)
n.3162C>G
c.2806C>G (p.Pro936Ala)
c.1852C>G (n.1852C>G)
c.57C>G
c.766C>G (p.Pro256Ala)
c.308C>G
c.2809C>G (p.Pro937Ala)
c.2791C>G (p.Pro931Ala)
c.2629C>G (p.Pro877Ala)
c.2737C>G (p.Pro913Ala)
c.2719C>G (p.Pro907Ala)
c.2443C>G (p.Pro815Ala)
n.3018C>G
c.2611C>G (p.Pro871Ala)
c.2425C>G (p.Pro809Ala)
n.3021C>G
c.2716C>G (p.Pro906Ala)
c.2782C>G (p.Pro928Ala)
c.2734C>G (p.Pro912Ala)
c.2599C>G (p.Pro867Ala)
16g.28835651C>TCA395408274ATXN2Lc.2788C>T (p.Pro930Ser)
c.763C>T (p.Pro255Ser)
n.3162C>T
c.2806C>T (p.Pro936Ser)
c.1852C>T (n.1852C>T)
c.57C>T
c.766C>T (p.Pro256Ser)
c.308C>T
c.2809C>T (p.Pro937Ser)
c.2791C>T (p.Pro931Ser)
c.2629C>T (p.Pro877Ser)
c.2737C>T (p.Pro913Ser)
c.2719C>T (p.Pro907Ser)
c.2443C>T (p.Pro815Ser)
n.3018C>T
c.2611C>T (p.Pro871Ser)
c.2425C>T (p.Pro809Ser)
n.3021C>T
c.2716C>T (p.Pro906Ser)
c.2782C>T (p.Pro928Ser)
c.2734C>T (p.Pro912Ser)
c.2599C>T (p.Pro867Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.28835652C>ACA395408276ATXN2Lc.2789C>A (p.Pro930His)
c.764C>A (p.Pro255His)
n.3163C>A
c.2807C>A (p.Pro936His)
c.1853C>A (n.1853C>A)
c.58C>A
c.767C>A (p.Pro256His)
c.309C>A
c.2810C>A (p.Pro937His)
c.2792C>A (p.Pro931His)
c.2630C>A (p.Pro877His)
c.2738C>A (p.Pro913His)
c.2720C>A (p.Pro907His)
c.2444C>A (p.Pro815His)
n.3019C>A
c.2612C>A (p.Pro871His)
c.2426C>A (p.Pro809His)
n.3022C>A
c.2717C>A (p.Pro906His)
c.2783C>A (p.Pro928His)
c.2735C>A (p.Pro912His)
c.2600C>A (p.Pro867His)
16g.28835652C>GCA395408277ATXN2Lc.2789C>G (p.Pro930Arg)
c.764C>G (p.Pro255Arg)
n.3163C>G
c.2807C>G (p.Pro936Arg)
c.1853C>G (n.1853C>G)
c.58C>G
c.767C>G (p.Pro256Arg)
c.309C>G
c.2810C>G (p.Pro937Arg)
c.2792C>G (p.Pro931Arg)
c.2630C>G (p.Pro877Arg)
c.2738C>G (p.Pro913Arg)
c.2720C>G (p.Pro907Arg)
c.2444C>G (p.Pro815Arg)
n.3019C>G
c.2612C>G (p.Pro871Arg)
c.2426C>G (p.Pro809Arg)
n.3022C>G
c.2717C>G (p.Pro906Arg)
c.2783C>G (p.Pro928Arg)
c.2735C>G (p.Pro912Arg)
c.2600C>G (p.Pro867Arg)
 gnomAD v4
16g.28835652C>TCA395408278ATXN2Lc.2789C>T (p.Pro930Leu)
c.764C>T (p.Pro255Leu)
n.3163C>T
c.2807C>T (p.Pro936Leu)
c.1853C>T (n.1853C>T)
c.58C>T
c.767C>T (p.Pro256Leu)
c.309C>T
c.2810C>T (p.Pro937Leu)
c.2792C>T (p.Pro931Leu)
c.2630C>T (p.Pro877Leu)
c.2738C>T (p.Pro913Leu)
c.2720C>T (p.Pro907Leu)
c.2444C>T (p.Pro815Leu)
n.3019C>T
c.2612C>T (p.Pro871Leu)
c.2426C>T (p.Pro809Leu)
n.3022C>T
c.2717C>T (p.Pro906Leu)
c.2783C>T (p.Pro928Leu)
c.2735C>T (p.Pro912Leu)
c.2600C>T (p.Pro867Leu)
16g.28835654_28835656delCA2632528909ATXN2Lc.2791_2793del (p.Ser931del)
c.766_768del (p.Ser256del)
n.3165_3167del
c.2809_2811del (p.Ser937del)
c.1855_1857del (n.1855_1857del)
c.60_62del
c.769_771del (p.Ser257del)
c.311_313del
c.2812_2814del (p.Ser938del)
c.2794_2796del (p.Ser932del)
c.2632_2634del (p.Ser878del)
c.2740_2742del (p.Ser914del)
c.2722_2724del (p.Ser908del)
c.2446_2448del (p.Ser816del)
n.3021_3023del
c.2614_2616del (p.Ser872del)
c.2428_2430del (p.Ser810del)
n.3024_3026del
c.2719_2721del (p.Ser907del)
c.2785_2787del (p.Ser929del)
c.2737_2739del (p.Ser913del)
c.2602_2604del (p.Ser868del)
 gnomAD v4
16g.28835653T>ACA494868866ATXN2Lc.2790T>A (p.Pro930=)
c.765T>A (p.Pro255=)
n.3164T>A
c.2808T>A (p.Pro936=)
c.1854T>A (n.1854T>A)
c.59T>A
c.768T>A (p.Pro256=)
c.310T>A
c.2811T>A (p.Pro937=)
c.2793T>A (p.Pro931=)
c.2631T>A (p.Pro877=)
c.2739T>A (p.Pro913=)
c.2721T>A (p.Pro907=)
c.2445T>A (p.Pro815=)
n.3020T>A
c.2613T>A (p.Pro871=)
c.2427T>A (p.Pro809=)
n.3023T>A
c.2718T>A (p.Pro906=)
c.2784T>A (p.Pro928=)
c.2736T>A (p.Pro912=)
c.2601T>A (p.Pro867=)
16g.28835653T>CCA494868869ATXN2Lc.2790T>C (p.Pro930=)
c.765T>C (p.Pro255=)
n.3164T>C
c.2808T>C (p.Pro936=)
c.1854T>C (n.1854T>C)
c.59T>C
c.768T>C (p.Pro256=)
c.310T>C
c.2811T>C (p.Pro937=)
c.2793T>C (p.Pro931=)
c.2631T>C (p.Pro877=)
c.2739T>C (p.Pro913=)
c.2721T>C (p.Pro907=)
c.2445T>C (p.Pro815=)
n.3020T>C
c.2613T>C (p.Pro871=)
c.2427T>C (p.Pro809=)
n.3023T>C
c.2718T>C (p.Pro906=)
c.2784T>C (p.Pro928=)
c.2736T>C (p.Pro912=)
c.2601T>C (p.Pro867=)
 COSMIC COSMIC COSMIC COSMIC
16g.28835653T>GCA494868874ATXN2Lc.2790T>G (p.Pro930=)
c.765T>G (p.Pro255=)
n.3164T>G
c.2808T>G (p.Pro936=)
c.1854T>G (n.1854T>G)
c.59T>G
c.768T>G (p.Pro256=)
c.310T>G
c.2811T>G (p.Pro937=)
c.2793T>G (p.Pro931=)
c.2631T>G (p.Pro877=)
c.2739T>G (p.Pro913=)
c.2721T>G (p.Pro907=)
c.2445T>G (p.Pro815=)
n.3020T>G
c.2613T>G (p.Pro871=)
c.2427T>G (p.Pro809=)
n.3023T>G
c.2718T>G (p.Pro906=)
c.2784T>G (p.Pro928=)
c.2736T>G (p.Pro912=)
c.2601T>G (p.Pro867=)
16g.28835654T>ACA395408279ATXN2Lc.2791T>A (p.Ser931Thr)
c.766T>A (p.Ser256Thr)
n.3165T>A
c.2809T>A (p.Ser937Thr)
c.1855T>A (n.1855T>A)
c.60T>A
c.769T>A (p.Ser257Thr)
c.311T>A
c.2812T>A (p.Ser938Thr)
c.2794T>A (p.Ser932Thr)
c.2632T>A (p.Ser878Thr)
c.2740T>A (p.Ser914Thr)
c.2722T>A (p.Ser908Thr)
c.2446T>A (p.Ser816Thr)
n.3021T>A
c.2614T>A (p.Ser872Thr)
c.2428T>A (p.Ser810Thr)
n.3024T>A
c.2719T>A (p.Ser907Thr)
c.2785T>A (p.Ser929Thr)
c.2737T>A (p.Ser913Thr)
c.2602T>A (p.Ser868Thr)
16g.28835654T>CCA7985094ATXN2Lc.2791T>C (p.Ser931Pro)
c.766T>C (p.Ser256Pro)
n.3165T>C
c.2809T>C (p.Ser937Pro)
c.1855T>C (n.1855T>C)
c.60T>C
c.769T>C (p.Ser257Pro)
c.311T>C
c.2812T>C (p.Ser938Pro)
c.2794T>C (p.Ser932Pro)
c.2632T>C (p.Ser878Pro)
c.2740T>C (p.Ser914Pro)
c.2722T>C (p.Ser908Pro)
c.2446T>C (p.Ser816Pro)
n.3021T>C
c.2614T>C (p.Ser872Pro)
c.2428T>C (p.Ser810Pro)
n.3024T>C
c.2719T>C (p.Ser907Pro)
c.2785T>C (p.Ser929Pro)
c.2737T>C (p.Ser913Pro)
c.2602T>C (p.Ser868Pro)
 dbSNP ExAC
16g.28835654T>GCA395408280ATXN2Lc.2791T>G (p.Ser931Ala)
c.766T>G (p.Ser256Ala)
n.3165T>G
c.2809T>G (p.Ser937Ala)
c.1855T>G (n.1855T>G)
c.60T>G
c.769T>G (p.Ser257Ala)
c.311T>G
c.2812T>G (p.Ser938Ala)
c.2794T>G (p.Ser932Ala)
c.2632T>G (p.Ser878Ala)
c.2740T>G (p.Ser914Ala)
c.2722T>G (p.Ser908Ala)
c.2446T>G (p.Ser816Ala)
n.3021T>G
c.2614T>G (p.Ser872Ala)
c.2428T>G (p.Ser810Ala)
n.3024T>G
c.2719T>G (p.Ser907Ala)
c.2785T>G (p.Ser929Ala)
c.2737T>G (p.Ser913Ala)
c.2602T>G (p.Ser868Ala)
 gnomAD v4
16g.28835654T=CA2215806392ATXN2Lc.2791T= (p.Ser931=)
c.766T= (p.Ser256=)
n.3165T=
c.2809T= (p.Ser937=)
c.1855T= (n.1855T=)
c.60T=
c.769T= (p.Ser257=)
c.311T=
c.2812T= (p.Ser938=)
c.2794T= (p.Ser932=)
c.2632T= (p.Ser878=)
c.2740T= (p.Ser914=)
c.2722T= (p.Ser908=)
c.2446T= (p.Ser816=)
n.3021T=
c.2614T= (p.Ser872=)
c.2428T= (p.Ser810=)
n.3024T=
c.2719T= (p.Ser907=)
c.2785T= (p.Ser929=)
c.2737T= (p.Ser913=)
c.2602T= (p.Ser868=)
16g.28835655C>ACA395408281ATXN2Lc.2792C>A (p.Ser931Tyr)
c.767C>A (p.Ser256Tyr)
n.3166C>A
c.2810C>A (p.Ser937Tyr)
c.1856C>A (n.1856C>A)
c.61C>A
c.770C>A (p.Ser257Tyr)
c.312C>A
c.2813C>A (p.Ser938Tyr)
c.2795C>A (p.Ser932Tyr)
c.2633C>A (p.Ser878Tyr)
c.2741C>A (p.Ser914Tyr)
c.2723C>A (p.Ser908Tyr)
c.2447C>A (p.Ser816Tyr)
n.3022C>A
c.2615C>A (p.Ser872Tyr)
c.2429C>A (p.Ser810Tyr)
n.3025C>A
c.2720C>A (p.Ser907Tyr)
c.2786C>A (p.Ser929Tyr)
c.2738C>A (p.Ser913Tyr)
c.2603C>A (p.Ser868Tyr)
16g.28835655C=CA2215806395ATXN2Lc.2792C= (p.Ser931=)
c.767C= (p.Ser256=)
n.3166C=
c.2810C= (p.Ser937=)
c.1856C= (n.1856C=)
c.61C=
c.770C= (p.Ser257=)
c.312C=
c.2813C= (p.Ser938=)
c.2795C= (p.Ser932=)
c.2633C= (p.Ser878=)
c.2741C= (p.Ser914=)
c.2723C= (p.Ser908=)
c.2447C= (p.Ser816=)
n.3022C=
c.2615C= (p.Ser872=)
c.2429C= (p.Ser810=)
n.3025C=
c.2720C= (p.Ser907=)
c.2786C= (p.Ser929=)
c.2738C= (p.Ser913=)
c.2603C= (p.Ser868=)
16g.28835655C>GCA395408282ATXN2Lc.2792C>G (p.Ser931Cys)
c.767C>G (p.Ser256Cys)
n.3166C>G
c.2810C>G (p.Ser937Cys)
c.1856C>G (n.1856C>G)
c.61C>G
c.770C>G (p.Ser257Cys)
c.312C>G
c.2813C>G (p.Ser938Cys)
c.2795C>G (p.Ser932Cys)
c.2633C>G (p.Ser878Cys)
c.2741C>G (p.Ser914Cys)
c.2723C>G (p.Ser908Cys)
c.2447C>G (p.Ser816Cys)
n.3022C>G
c.2615C>G (p.Ser872Cys)
c.2429C>G (p.Ser810Cys)
n.3025C>G
c.2720C>G (p.Ser907Cys)
c.2786C>G (p.Ser929Cys)
c.2738C>G (p.Ser913Cys)
c.2603C>G (p.Ser868Cys)
16g.28835655C>TCA279230771ATXN2Lc.2792C>T (p.Ser931Phe)
c.767C>T (p.Ser256Phe)
n.3166C>T
c.2810C>T (p.Ser937Phe)
c.1856C>T (n.1856C>T)
c.61C>T
c.770C>T (p.Ser257Phe)
c.312C>T
c.2813C>T (p.Ser938Phe)
c.2795C>T (p.Ser932Phe)
c.2633C>T (p.Ser878Phe)
c.2741C>T (p.Ser914Phe)
c.2723C>T (p.Ser908Phe)
c.2447C>T (p.Ser816Phe)
n.3022C>T
c.2615C>T (p.Ser872Phe)
c.2429C>T (p.Ser810Phe)
n.3025C>T
c.2720C>T (p.Ser907Phe)
c.2786C>T (p.Ser929Phe)
c.2738C>T (p.Ser913Phe)
c.2603C>T (p.Ser868Phe)
 dbSNP
16g.28835656T>ACA494868888ATXN2Lc.2793T>A (p.Ser931=)
c.768T>A (p.Ser256=)
n.3167T>A
c.2811T>A (p.Ser937=)
c.1857T>A (n.1857T>A)
c.62T>A
c.771T>A (p.Ser257=)
c.313T>A
c.2814T>A (p.Ser938=)
c.2796T>A (p.Ser932=)
c.2634T>A (p.Ser878=)
c.2742T>A (p.Ser914=)
c.2724T>A (p.Ser908=)
c.2448T>A (p.Ser816=)
n.3023T>A
c.2616T>A (p.Ser872=)
c.2430T>A (p.Ser810=)
n.3026T>A
c.2721T>A (p.Ser907=)
c.2787T>A (p.Ser929=)
c.2739T>A (p.Ser913=)
c.2604T>A (p.Ser868=)
16g.28835656T>CCA494868890ATXN2Lc.2793T>C (p.Ser931=)
c.768T>C (p.Ser256=)
n.3167T>C
c.2811T>C (p.Ser937=)
c.1857T>C (n.1857T>C)
c.62T>C
c.771T>C (p.Ser257=)
c.313T>C
c.2814T>C (p.Ser938=)
c.2796T>C (p.Ser932=)
c.2634T>C (p.Ser878=)
c.2742T>C (p.Ser914=)
c.2724T>C (p.Ser908=)
c.2448T>C (p.Ser816=)
n.3023T>C
c.2616T>C (p.Ser872=)
c.2430T>C (p.Ser810=)
n.3026T>C
c.2721T>C (p.Ser907=)
c.2787T>C (p.Ser929=)
c.2739T>C (p.Ser913=)
c.2604T>C (p.Ser868=)
16g.28835656T>GCA494868895ATXN2Lc.2793T>G (p.Ser931=)
c.768T>G (p.Ser256=)
n.3167T>G
c.2811T>G (p.Ser937=)
c.1857T>G (n.1857T>G)
c.62T>G
c.771T>G (p.Ser257=)
c.313T>G
c.2814T>G (p.Ser938=)
c.2796T>G (p.Ser932=)
c.2634T>G (p.Ser878=)
c.2742T>G (p.Ser914=)
c.2724T>G (p.Ser908=)
c.2448T>G (p.Ser816=)
n.3023T>G
c.2616T>G (p.Ser872=)
c.2430T>G (p.Ser810=)
n.3026T>G
c.2721T>G (p.Ser907=)
c.2787T>G (p.Ser929=)
c.2739T>G (p.Ser913=)
c.2604T>G (p.Ser868=)
16g.28835657G>ACA395408283ATXN2Lc.2794G>A (p.Ala932Thr)
c.769G>A (p.Ala257Thr)
n.3168G>A
c.2812G>A (p.Ala938Thr)
c.1858G>A (n.1858G>A)
c.63G>A
c.772G>A (p.Ala258Thr)
c.314G>A
c.2815G>A (p.Ala939Thr)
c.2797G>A (p.Ala933Thr)
c.2635G>A (p.Ala879Thr)
c.2743G>A (p.Ala915Thr)
c.2725G>A (p.Ala909Thr)
c.2449G>A (p.Ala817Thr)
n.3024G>A
c.2617G>A (p.Ala873Thr)
c.2431G>A (p.Ala811Thr)
n.3027G>A
c.2722G>A (p.Ala908Thr)
c.2788G>A (p.Ala930Thr)
c.2740G>A (p.Ala914Thr)
c.2605G>A (p.Ala869Thr)
 COSMIC COSMIC COSMIC COSMIC
16g.28835657G>CCA395408284ATXN2Lc.2794G>C (p.Ala932Pro)
c.769G>C (p.Ala257Pro)
n.3168G>C
c.2812G>C (p.Ala938Pro)
c.1858G>C (n.1858G>C)
c.63G>C
c.772G>C (p.Ala258Pro)
c.314G>C
c.2815G>C (p.Ala939Pro)
c.2797G>C (p.Ala933Pro)
c.2635G>C (p.Ala879Pro)
c.2743G>C (p.Ala915Pro)
c.2725G>C (p.Ala909Pro)
c.2449G>C (p.Ala817Pro)
n.3024G>C
c.2617G>C (p.Ala873Pro)
c.2431G>C (p.Ala811Pro)
n.3027G>C
c.2722G>C (p.Ala908Pro)
c.2788G>C (p.Ala930Pro)
c.2740G>C (p.Ala914Pro)
c.2605G>C (p.Ala869Pro)
16g.28835657G>TCA395408285ATXN2Lc.2794G>T (p.Ala932Ser)
c.769G>T (p.Ala257Ser)
n.3168G>T
c.2812G>T (p.Ala938Ser)
c.1858G>T (n.1858G>T)
c.63G>T
c.772G>T (p.Ala258Ser)
c.314G>T
c.2815G>T (p.Ala939Ser)
c.2797G>T (p.Ala933Ser)
c.2635G>T (p.Ala879Ser)
c.2743G>T (p.Ala915Ser)
c.2725G>T (p.Ala909Ser)
c.2449G>T (p.Ala817Ser)
n.3024G>T
c.2617G>T (p.Ala873Ser)
c.2431G>T (p.Ala811Ser)
n.3027G>T
c.2722G>T (p.Ala908Ser)
c.2788G>T (p.Ala930Ser)
c.2740G>T (p.Ala914Ser)
c.2605G>T (p.Ala869Ser)
16g.28835658C>ACA395408288ATXN2Lc.2795C>A (p.Ala932Asp)
c.770C>A (p.Ala257Asp)
n.3169C>A
c.2813C>A (p.Ala938Asp)
c.1859C>A (n.1859C>A)
c.64C>A
c.773C>A (p.Ala258Asp)
c.315C>A
c.2816C>A (p.Ala939Asp)
c.2798C>A (p.Ala933Asp)
c.2636C>A (p.Ala879Asp)
c.2744C>A (p.Ala915Asp)
c.2726C>A (p.Ala909Asp)
c.2450C>A (p.Ala817Asp)
n.3025C>A
c.2618C>A (p.Ala873Asp)
c.2432C>A (p.Ala811Asp)
n.3028C>A
c.2723C>A (p.Ala908Asp)
c.2789C>A (p.Ala930Asp)
c.2741C>A (p.Ala914Asp)
c.2606C>A (p.Ala869Asp)
16g.28835658C>GCA395408286ATXN2Lc.2795C>G (p.Ala932Gly)
c.770C>G (p.Ala257Gly)
n.3169C>G
c.2813C>G (p.Ala938Gly)
c.1859C>G (n.1859C>G)
c.64C>G
c.773C>G (p.Ala258Gly)
c.315C>G
c.2816C>G (p.Ala939Gly)
c.2798C>G (p.Ala933Gly)
c.2636C>G (p.Ala879Gly)
c.2744C>G (p.Ala915Gly)
c.2726C>G (p.Ala909Gly)
c.2450C>G (p.Ala817Gly)
n.3025C>G
c.2618C>G (p.Ala873Gly)
c.2432C>G (p.Ala811Gly)
n.3028C>G
c.2723C>G (p.Ala908Gly)
c.2789C>G (p.Ala930Gly)
c.2741C>G (p.Ala914Gly)
c.2606C>G (p.Ala869Gly)
16g.28835658C>TCA395408287ATXN2Lc.2795C>T (p.Ala932Val)
c.770C>T (p.Ala257Val)
n.3169C>T
c.2813C>T (p.Ala938Val)
c.1859C>T (n.1859C>T)
c.64C>T
c.773C>T (p.Ala258Val)
c.315C>T
c.2816C>T (p.Ala939Val)
c.2798C>T (p.Ala933Val)
c.2636C>T (p.Ala879Val)
c.2744C>T (p.Ala915Val)
c.2726C>T (p.Ala909Val)
c.2450C>T (p.Ala817Val)
n.3025C>T
c.2618C>T (p.Ala873Val)
c.2432C>T (p.Ala811Val)
n.3028C>T
c.2723C>T (p.Ala908Val)
c.2789C>T (p.Ala930Val)
c.2741C>T (p.Ala914Val)
c.2606C>T (p.Ala869Val)
16g.28835659C>ACA494868915ATXN2Lc.2796C>A (p.Ala932=)
c.771C>A (p.Ala257=)
n.3170C>A
c.2814C>A (p.Ala938=)
c.1860C>A (n.1860C>A)
c.65C>A
c.774C>A (p.Ala258=)
c.316C>A
c.2817C>A (p.Ala939=)
c.2799C>A (p.Ala933=)
c.2637C>A (p.Ala879=)
c.2745C>A (p.Ala915=)
c.2727C>A (p.Ala909=)
c.2451C>A (p.Ala817=)
n.3026C>A
c.2619C>A (p.Ala873=)
c.2433C>A (p.Ala811=)
n.3029C>A
c.2724C>A (p.Ala908=)
c.2790C>A (p.Ala930=)
c.2742C>A (p.Ala914=)
c.2607C>A (p.Ala869=)
16g.28835659C=CA2215806403ATXN2Lc.2796C= (p.Ala932=)
c.771C= (p.Ala257=)
n.3170C=
c.2814C= (p.Ala938=)
c.1860C= (n.1860C=)
c.65C=
c.774C= (p.Ala258=)
c.316C=
c.2817C= (p.Ala939=)
c.2799C= (p.Ala933=)
c.2637C= (p.Ala879=)
c.2745C= (p.Ala915=)
c.2727C= (p.Ala909=)
c.2451C= (p.Ala817=)
n.3026C=
c.2619C= (p.Ala873=)
c.2433C= (p.Ala811=)
n.3029C=
c.2724C= (p.Ala908=)
c.2790C= (p.Ala930=)
c.2742C= (p.Ala914=)
c.2607C= (p.Ala869=)
16g.28835659C>GCA494868911ATXN2Lc.2796C>G (p.Ala932=)
c.771C>G (p.Ala257=)
n.3170C>G
c.2814C>G (p.Ala938=)
c.1860C>G (n.1860C>G)
c.65C>G
c.774C>G (p.Ala258=)
c.316C>G
c.2817C>G (p.Ala939=)
c.2799C>G (p.Ala933=)
c.2637C>G (p.Ala879=)
c.2745C>G (p.Ala915=)
c.2727C>G (p.Ala909=)
c.2451C>G (p.Ala817=)
n.3026C>G
c.2619C>G (p.Ala873=)
c.2433C>G (p.Ala811=)
n.3029C>G
c.2724C>G (p.Ala908=)
c.2790C>G (p.Ala930=)
c.2742C>G (p.Ala914=)
c.2607C>G (p.Ala869=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835659C>TCA494868909ATXN2Lc.2796C>T (p.Ala932=)
c.771C>T (p.Ala257=)
n.3170C>T
c.2814C>T (p.Ala938=)
c.1860C>T (n.1860C>T)
c.65C>T
c.774C>T (p.Ala258=)
c.316C>T
c.2817C>T (p.Ala939=)
c.2799C>T (p.Ala933=)
c.2637C>T (p.Ala879=)
c.2745C>T (p.Ala915=)
c.2727C>T (p.Ala909=)
c.2451C>T (p.Ala817=)
n.3026C>T
c.2619C>T (p.Ala873=)
c.2433C>T (p.Ala811=)
n.3029C>T
c.2724C>T (p.Ala908=)
c.2790C>T (p.Ala930=)
c.2742C>T (p.Ala914=)
c.2607C>T (p.Ala869=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835660C>ACA395408289ATXN2Lc.2797C>A (p.Gln933Lys)
c.772C>A (p.Gln258Lys)
n.3171C>A
c.2815C>A (p.Gln939Lys)
c.1861C>A (n.1861C>A)
c.66C>A
c.775C>A (p.Gln259Lys)
c.317C>A
c.2818C>A (p.Gln940Lys)
c.2800C>A (p.Gln934Lys)
c.2638C>A (p.Gln880Lys)
c.2746C>A (p.Gln916Lys)
c.2728C>A (p.Gln910Lys)
c.2452C>A (p.Gln818Lys)
n.3027C>A
c.2620C>A (p.Gln874Lys)
c.2434C>A (p.Gln812Lys)
n.3030C>A
c.2725C>A (p.Gln909Lys)
c.2791C>A (p.Gln931Lys)
c.2743C>A (p.Gln915Lys)
c.2608C>A (p.Gln870Lys)
16g.28835660C>GCA395408290ATXN2Lc.2797C>G (p.Gln933Glu)
c.772C>G (p.Gln258Glu)
n.3171C>G
c.2815C>G (p.Gln939Glu)
c.1861C>G (n.1861C>G)
c.66C>G
c.775C>G (p.Gln259Glu)
c.317C>G
c.2818C>G (p.Gln940Glu)
c.2800C>G (p.Gln934Glu)
c.2638C>G (p.Gln880Glu)
c.2746C>G (p.Gln916Glu)
c.2728C>G (p.Gln910Glu)
c.2452C>G (p.Gln818Glu)
n.3027C>G
c.2620C>G (p.Gln874Glu)
c.2434C>G (p.Gln812Glu)
n.3030C>G
c.2725C>G (p.Gln909Glu)
c.2791C>G (p.Gln931Glu)
c.2743C>G (p.Gln915Glu)
c.2608C>G (p.Gln870Glu)
16g.28835660C>TCA395408291ATXN2Lc.2797C>T (p.Gln933Ter)
c.772C>T (p.Gln258Ter)
n.3171C>T
c.2815C>T (p.Gln939Ter)
c.1861C>T (n.1861C>T)
c.66C>T
c.775C>T (p.Gln259Ter)
c.317C>T
c.2818C>T (p.Gln940Ter)
c.2800C>T (p.Gln934Ter)
c.2638C>T (p.Gln880Ter)
c.2746C>T (p.Gln916Ter)
c.2728C>T (p.Gln910Ter)
c.2452C>T (p.Gln818Ter)
n.3027C>T
c.2620C>T (p.Gln874Ter)
c.2434C>T (p.Gln812Ter)
n.3030C>T
c.2725C>T (p.Gln909Ter)
c.2791C>T (p.Gln931Ter)
c.2743C>T (p.Gln915Ter)
c.2608C>T (p.Gln870Ter)
16g.28835661A>CCA395408292ATXN2Lc.2798A>C (p.Gln933Pro)
c.773A>C (p.Gln258Pro)
n.3172A>C
c.2816A>C (p.Gln939Pro)
c.1862A>C (n.1862A>C)
c.67A>C
c.776A>C (p.Gln259Pro)
c.318A>C
c.2819A>C (p.Gln940Pro)
c.2801A>C (p.Gln934Pro)
c.2639A>C (p.Gln880Pro)
c.2747A>C (p.Gln916Pro)
c.2729A>C (p.Gln910Pro)
c.2453A>C (p.Gln818Pro)
n.3028A>C
c.2621A>C (p.Gln874Pro)
c.2435A>C (p.Gln812Pro)
n.3031A>C
c.2726A>C (p.Gln909Pro)
c.2792A>C (p.Gln931Pro)
c.2744A>C (p.Gln915Pro)
c.2609A>C (p.Gln870Pro)
16g.28835661A>GCA395408293ATXN2Lc.2798A>G (p.Gln933Arg)
c.773A>G (p.Gln258Arg)
n.3172A>G
c.2816A>G (p.Gln939Arg)
c.1862A>G (n.1862A>G)
c.67A>G
c.776A>G (p.Gln259Arg)
c.318A>G
c.2819A>G (p.Gln940Arg)
c.2801A>G (p.Gln934Arg)
c.2639A>G (p.Gln880Arg)
c.2747A>G (p.Gln916Arg)
c.2729A>G (p.Gln910Arg)
c.2453A>G (p.Gln818Arg)
n.3028A>G
c.2621A>G (p.Gln874Arg)
c.2435A>G (p.Gln812Arg)
n.3031A>G
c.2726A>G (p.Gln909Arg)
c.2792A>G (p.Gln931Arg)
c.2744A>G (p.Gln915Arg)
c.2609A>G (p.Gln870Arg)
 gnomAD v4
16g.28835661A>TCA395408294ATXN2Lc.2798A>T (p.Gln933Leu)
c.773A>T (p.Gln258Leu)
n.3172A>T
c.2816A>T (p.Gln939Leu)
c.1862A>T (n.1862A>T)
c.67A>T
c.776A>T (p.Gln259Leu)
c.318A>T
c.2819A>T (p.Gln940Leu)
c.2801A>T (p.Gln934Leu)
c.2639A>T (p.Gln880Leu)
c.2747A>T (p.Gln916Leu)
c.2729A>T (p.Gln910Leu)
c.2453A>T (p.Gln818Leu)
n.3028A>T
c.2621A>T (p.Gln874Leu)
c.2435A>T (p.Gln812Leu)
n.3031A>T
c.2726A>T (p.Gln909Leu)
c.2792A>T (p.Gln931Leu)
c.2744A>T (p.Gln915Leu)
c.2609A>T (p.Gln870Leu)
16g.28835662G>ACA494868948ATXN2Lc.2799G>A (p.Gln933=)
c.774G>A (p.Gln258=)
n.3173G>A
c.2817G>A (p.Gln939=)
c.1863G>A (n.1863G>A)
c.68G>A
c.777G>A (p.Gln259=)
c.319G>A
c.2820G>A (p.Gln940=)
c.2802G>A (p.Gln934=)
c.2640G>A (p.Gln880=)
c.2748G>A (p.Gln916=)
c.2730G>A (p.Gln910=)
c.2454G>A (p.Gln818=)
n.3029G>A
c.2622G>A (p.Gln874=)
c.2436G>A (p.Gln812=)
n.3032G>A
c.2727G>A (p.Gln909=)
c.2793G>A (p.Gln931=)
c.2745G>A (p.Gln915=)
c.2610G>A (p.Gln870=)
16g.28835662G>CCA395408295ATXN2Lc.2799G>C (p.Gln933His)
c.774G>C (p.Gln258His)
n.3173G>C
c.2817G>C (p.Gln939His)
c.1863G>C (n.1863G>C)
c.68G>C
c.777G>C (p.Gln259His)
c.319G>C
c.2820G>C (p.Gln940His)
c.2802G>C (p.Gln934His)
c.2640G>C (p.Gln880His)
c.2748G>C (p.Gln916His)
c.2730G>C (p.Gln910His)
c.2454G>C (p.Gln818His)
n.3029G>C
c.2622G>C (p.Gln874His)
c.2436G>C (p.Gln812His)
n.3032G>C
c.2727G>C (p.Gln909His)
c.2793G>C (p.Gln931His)
c.2745G>C (p.Gln915His)
c.2610G>C (p.Gln870His)
 gnomAD v4
16g.28835662G>TCA395408296ATXN2Lc.2799G>T (p.Gln933His)
c.774G>T (p.Gln258His)
n.3173G>T
c.2817G>T (p.Gln939His)
c.1863G>T (n.1863G>T)
c.68G>T
c.777G>T (p.Gln259His)
c.319G>T
c.2820G>T (p.Gln940His)
c.2802G>T (p.Gln934His)
c.2640G>T (p.Gln880His)
c.2748G>T (p.Gln916His)
c.2730G>T (p.Gln910His)
c.2454G>T (p.Gln818His)
n.3029G>T
c.2622G>T (p.Gln874His)
c.2436G>T (p.Gln812His)
n.3032G>T
c.2727G>T (p.Gln909His)
c.2793G>T (p.Gln931His)
c.2745G>T (p.Gln915His)
c.2610G>T (p.Gln870His)
16g.28835663T>ACA395408297ATXN2Lc.2800T>A (p.Ser934Thr)
c.775T>A (p.Ser259Thr)
n.3174T>A
c.2818T>A (p.Ser940Thr)
c.1864T>A (n.1864T>A)
c.69T>A
c.778T>A (p.Ser260Thr)
c.320T>A
c.2821T>A (p.Ser941Thr)
c.2803T>A (p.Ser935Thr)
c.2641T>A (p.Ser881Thr)
c.2749T>A (p.Ser917Thr)
c.2731T>A (p.Ser911Thr)
c.2455T>A (p.Ser819Thr)
n.3030T>A
c.2623T>A (p.Ser875Thr)
c.2437T>A (p.Ser813Thr)
n.3033T>A
c.2728T>A (p.Ser910Thr)
c.2794T>A (p.Ser932Thr)
c.2746T>A (p.Ser916Thr)
c.2611T>A (p.Ser871Thr)
16g.28835663T>CCA395408298ATXN2Lc.2800T>C (p.Ser934Pro)
c.775T>C (p.Ser259Pro)
n.3174T>C
c.2818T>C (p.Ser940Pro)
c.1864T>C (n.1864T>C)
c.69T>C
c.778T>C (p.Ser260Pro)
c.320T>C
c.2821T>C (p.Ser941Pro)
c.2803T>C (p.Ser935Pro)
c.2641T>C (p.Ser881Pro)
c.2749T>C (p.Ser917Pro)
c.2731T>C (p.Ser911Pro)
c.2455T>C (p.Ser819Pro)
n.3030T>C
c.2623T>C (p.Ser875Pro)
c.2437T>C (p.Ser813Pro)
n.3033T>C
c.2728T>C (p.Ser910Pro)
c.2794T>C (p.Ser932Pro)
c.2746T>C (p.Ser916Pro)
c.2611T>C (p.Ser871Pro)
 gnomAD v4
16g.28835663T>GCA7985095ATXN2Lc.2800T>G (p.Ser934Ala)
c.775T>G (p.Ser259Ala)
n.3174T>G
c.2818T>G (p.Ser940Ala)
c.1864T>G (n.1864T>G)
c.69T>G
c.778T>G (p.Ser260Ala)
c.320T>G
c.2821T>G (p.Ser941Ala)
c.2803T>G (p.Ser935Ala)
c.2641T>G (p.Ser881Ala)
c.2749T>G (p.Ser917Ala)
c.2731T>G (p.Ser911Ala)
c.2455T>G (p.Ser819Ala)
n.3030T>G
c.2623T>G (p.Ser875Ala)
c.2437T>G (p.Ser813Ala)
n.3033T>G
c.2728T>G (p.Ser910Ala)
c.2794T>G (p.Ser932Ala)
c.2746T>G (p.Ser916Ala)
c.2611T>G (p.Ser871Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835663T=CA2215806409ATXN2Lc.2800T= (p.Ser934=)
c.775T= (p.Ser259=)
n.3174T=
c.2818T= (p.Ser940=)
c.1864T= (n.1864T=)
c.69T=
c.778T= (p.Ser260=)
c.320T=
c.2821T= (p.Ser941=)
c.2803T= (p.Ser935=)
c.2641T= (p.Ser881=)
c.2749T= (p.Ser917=)
c.2731T= (p.Ser911=)
c.2455T= (p.Ser819=)
n.3030T=
c.2623T= (p.Ser875=)
c.2437T= (p.Ser813=)
n.3033T=
c.2728T= (p.Ser910=)
c.2794T= (p.Ser932=)
c.2746T= (p.Ser916=)
c.2611T= (p.Ser871=)
16g.28835664C>ACA395408301ATXN2Lc.2801C>A (p.Ser934Tyr)
c.776C>A (p.Ser259Tyr)
n.3175C>A
c.2819C>A (p.Ser940Tyr)
c.1865C>A (n.1865C>A)
c.70C>A
c.779C>A (p.Ser260Tyr)
c.321C>A
c.2822C>A (p.Ser941Tyr)
c.2804C>A (p.Ser935Tyr)
c.2642C>A (p.Ser881Tyr)
c.2750C>A (p.Ser917Tyr)
c.2732C>A (p.Ser911Tyr)
c.2456C>A (p.Ser819Tyr)
n.3031C>A
c.2624C>A (p.Ser875Tyr)
c.2438C>A (p.Ser813Tyr)
n.3034C>A
c.2729C>A (p.Ser910Tyr)
c.2795C>A (p.Ser932Tyr)
c.2747C>A (p.Ser916Tyr)
c.2612C>A (p.Ser871Tyr)
 gnomAD v4
16g.28835664C>GCA395408300ATXN2Lc.2801C>G (p.Ser934Cys)
c.776C>G (p.Ser259Cys)
n.3175C>G
c.2819C>G (p.Ser940Cys)
c.1865C>G (n.1865C>G)
c.70C>G
c.779C>G (p.Ser260Cys)
c.321C>G
c.2822C>G (p.Ser941Cys)
c.2804C>G (p.Ser935Cys)
c.2642C>G (p.Ser881Cys)
c.2750C>G (p.Ser917Cys)
c.2732C>G (p.Ser911Cys)
c.2456C>G (p.Ser819Cys)
n.3031C>G
c.2624C>G (p.Ser875Cys)
c.2438C>G (p.Ser813Cys)
n.3034C>G
c.2729C>G (p.Ser910Cys)
c.2795C>G (p.Ser932Cys)
c.2747C>G (p.Ser916Cys)
c.2612C>G (p.Ser871Cys)
16g.28835664C>TCA395408299ATXN2Lc.2801C>T (p.Ser934Phe)
c.776C>T (p.Ser259Phe)
n.3175C>T
c.2819C>T (p.Ser940Phe)
c.1865C>T (n.1865C>T)
c.70C>T
c.779C>T (p.Ser260Phe)
c.321C>T
c.2822C>T (p.Ser941Phe)
c.2804C>T (p.Ser935Phe)
c.2642C>T (p.Ser881Phe)
c.2750C>T (p.Ser917Phe)
c.2732C>T (p.Ser911Phe)
c.2456C>T (p.Ser819Phe)
n.3031C>T
c.2624C>T (p.Ser875Phe)
c.2438C>T (p.Ser813Phe)
n.3034C>T
c.2729C>T (p.Ser910Phe)
c.2795C>T (p.Ser932Phe)
c.2747C>T (p.Ser916Phe)
c.2612C>T (p.Ser871Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835665C>ACA494868967ATXN2Lc.2802C>A (p.Ser934=)
c.777C>A (p.Ser259=)
n.3176C>A
c.2820C>A (p.Ser940=)
c.1866C>A (n.1866C>A)
c.71C>A
c.780C>A (p.Ser260=)
c.322C>A
c.2823C>A (p.Ser941=)
c.2805C>A (p.Ser935=)
c.2643C>A (p.Ser881=)
c.2751C>A (p.Ser917=)
c.2733C>A (p.Ser911=)
c.2457C>A (p.Ser819=)
n.3032C>A
c.2625C>A (p.Ser875=)
c.2439C>A (p.Ser813=)
n.3035C>A
c.2730C>A (p.Ser910=)
c.2796C>A (p.Ser932=)
c.2748C>A (p.Ser916=)
c.2613C>A (p.Ser871=)
16g.28835665C>GCA494868970ATXN2Lc.2802C>G (p.Ser934=)
c.777C>G (p.Ser259=)
n.3176C>G
c.2820C>G (p.Ser940=)
c.1866C>G (n.1866C>G)
c.71C>G
c.780C>G (p.Ser260=)
c.322C>G
c.2823C>G (p.Ser941=)
c.2805C>G (p.Ser935=)
c.2643C>G (p.Ser881=)
c.2751C>G (p.Ser917=)
c.2733C>G (p.Ser911=)
c.2457C>G (p.Ser819=)
n.3032C>G
c.2625C>G (p.Ser875=)
c.2439C>G (p.Ser813=)
n.3035C>G
c.2730C>G (p.Ser910=)
c.2796C>G (p.Ser932=)
c.2748C>G (p.Ser916=)
c.2613C>G (p.Ser871=)
 gnomAD v4
16g.28835665C>TCA494868982ATXN2Lc.2802C>T (p.Ser934=)
c.777C>T (p.Ser259=)
n.3176C>T
c.2820C>T (p.Ser940=)
c.1866C>T (n.1866C>T)
c.71C>T
c.780C>T (p.Ser260=)
c.322C>T
c.2823C>T (p.Ser941=)
c.2805C>T (p.Ser935=)
c.2643C>T (p.Ser881=)
c.2751C>T (p.Ser917=)
c.2733C>T (p.Ser911=)
c.2457C>T (p.Ser819=)
n.3032C>T
c.2625C>T (p.Ser875=)
c.2439C>T (p.Ser813=)
n.3035C>T
c.2730C>T (p.Ser910=)
c.2796C>T (p.Ser932=)
c.2748C>T (p.Ser916=)
c.2613C>T (p.Ser871=)
 gnomAD v4
16g.28835666C>ACA395408302ATXN2Lc.2803C>A (p.Pro935Thr)
c.778C>A (p.Pro260Thr)
n.3177C>A
c.2821C>A (p.Pro941Thr)
c.1867C>A (n.1867C>A)
c.72C>A
c.781C>A (p.Pro261Thr)
c.323C>A
c.2824C>A (p.Pro942Thr)
c.2806C>A (p.Pro936Thr)
c.2644C>A (p.Pro882Thr)
c.2752C>A (p.Pro918Thr)
c.2734C>A (p.Pro912Thr)
c.2458C>A (p.Pro820Thr)
n.3033C>A
c.2626C>A (p.Pro876Thr)
c.2440C>A (p.Pro814Thr)
n.3036C>A
c.2731C>A (p.Pro911Thr)
c.2797C>A (p.Pro933Thr)
c.2749C>A (p.Pro917Thr)
c.2614C>A (p.Pro872Thr)
16g.28835666C>GCA395408303ATXN2Lc.2803C>G (p.Pro935Ala)
c.778C>G (p.Pro260Ala)
n.3177C>G
c.2821C>G (p.Pro941Ala)
c.1867C>G (n.1867C>G)
c.72C>G
c.781C>G (p.Pro261Ala)
c.323C>G
c.2824C>G (p.Pro942Ala)
c.2806C>G (p.Pro936Ala)
c.2644C>G (p.Pro882Ala)
c.2752C>G (p.Pro918Ala)
c.2734C>G (p.Pro912Ala)
c.2458C>G (p.Pro820Ala)
n.3033C>G
c.2626C>G (p.Pro876Ala)
c.2440C>G (p.Pro814Ala)
n.3036C>G
c.2731C>G (p.Pro911Ala)
c.2797C>G (p.Pro933Ala)
c.2749C>G (p.Pro917Ala)
c.2614C>G (p.Pro872Ala)
 gnomAD v4
16g.28835666C>TCA395408304ATXN2Lc.2803C>T (p.Pro935Ser)
c.778C>T (p.Pro260Ser)
n.3177C>T
c.2821C>T (p.Pro941Ser)
c.1867C>T (n.1867C>T)
c.72C>T
c.781C>T (p.Pro261Ser)
c.323C>T
c.2824C>T (p.Pro942Ser)
c.2806C>T (p.Pro936Ser)
c.2644C>T (p.Pro882Ser)
c.2752C>T (p.Pro918Ser)
c.2734C>T (p.Pro912Ser)
c.2458C>T (p.Pro820Ser)
n.3033C>T
c.2626C>T (p.Pro876Ser)
c.2440C>T (p.Pro814Ser)
n.3036C>T
c.2731C>T (p.Pro911Ser)
c.2797C>T (p.Pro933Ser)
c.2749C>T (p.Pro917Ser)
c.2614C>T (p.Pro872Ser)
 COSMIC COSMIC COSMIC COSMIC
16g.28835667C>ACA395408305ATXN2Lc.2804C>A (p.Pro935His)
c.779C>A (p.Pro260His)
n.3178C>A
c.2822C>A (p.Pro941His)
c.1868C>A (n.1868C>A)
c.73C>A
c.782C>A (p.Pro261His)
c.324C>A
c.2825C>A (p.Pro942His)
c.2807C>A (p.Pro936His)
c.2645C>A (p.Pro882His)
c.2753C>A (p.Pro918His)
c.2735C>A (p.Pro912His)
c.2459C>A (p.Pro820His)
n.3034C>A
c.2627C>A (p.Pro876His)
c.2441C>A (p.Pro814His)
n.3037C>A
c.2732C>A (p.Pro911His)
c.2798C>A (p.Pro933His)
c.2750C>A (p.Pro917His)
c.2615C>A (p.Pro872His)
 COSMIC COSMIC
16g.28835667C>GCA395408306ATXN2Lc.2804C>G (p.Pro935Arg)
c.779C>G (p.Pro260Arg)
n.3178C>G
c.2822C>G (p.Pro941Arg)
c.1868C>G (n.1868C>G)
c.73C>G
c.782C>G (p.Pro261Arg)
c.324C>G
c.2825C>G (p.Pro942Arg)
c.2807C>G (p.Pro936Arg)
c.2645C>G (p.Pro882Arg)
c.2753C>G (p.Pro918Arg)
c.2735C>G (p.Pro912Arg)
c.2459C>G (p.Pro820Arg)
n.3034C>G
c.2627C>G (p.Pro876Arg)
c.2441C>G (p.Pro814Arg)
n.3037C>G
c.2732C>G (p.Pro911Arg)
c.2798C>G (p.Pro933Arg)
c.2750C>G (p.Pro917Arg)
c.2615C>G (p.Pro872Arg)
16g.28835667C>TCA395408307ATXN2Lc.2804C>T (p.Pro935Leu)
c.779C>T (p.Pro260Leu)
n.3178C>T
c.2822C>T (p.Pro941Leu)
c.1868C>T (n.1868C>T)
c.73C>T
c.782C>T (p.Pro261Leu)
c.324C>T
c.2825C>T (p.Pro942Leu)
c.2807C>T (p.Pro936Leu)
c.2645C>T (p.Pro882Leu)
c.2753C>T (p.Pro918Leu)
c.2735C>T (p.Pro912Leu)
c.2459C>T (p.Pro820Leu)
n.3034C>T
c.2627C>T (p.Pro876Leu)
c.2441C>T (p.Pro814Leu)
n.3037C>T
c.2732C>T (p.Pro911Leu)
c.2798C>T (p.Pro933Leu)
c.2750C>T (p.Pro917Leu)
c.2615C>T (p.Pro872Leu)
16g.28835668T>ACA494869002ATXN2Lc.2805T>A (p.Pro935=)
c.780T>A (p.Pro260=)
n.3179T>A
c.2823T>A (p.Pro941=)
c.1869T>A (n.1869T>A)
c.74T>A
c.783T>A (p.Pro261=)
c.325T>A
c.2826T>A (p.Pro942=)
c.2808T>A (p.Pro936=)
c.2646T>A (p.Pro882=)
c.2754T>A (p.Pro918=)
c.2736T>A (p.Pro912=)
c.2460T>A (p.Pro820=)
n.3035T>A
c.2628T>A (p.Pro876=)
c.2442T>A (p.Pro814=)
n.3038T>A
c.2733T>A (p.Pro911=)
c.2799T>A (p.Pro933=)
c.2751T>A (p.Pro917=)
c.2616T>A (p.Pro872=)
16g.28835668T>CCA494869006ATXN2Lc.2805T>C (p.Pro935=)
c.780T>C (p.Pro260=)
n.3179T>C
c.2823T>C (p.Pro941=)
c.1869T>C (n.1869T>C)
c.74T>C
c.783T>C (p.Pro261=)
c.325T>C
c.2826T>C (p.Pro942=)
c.2808T>C (p.Pro936=)
c.2646T>C (p.Pro882=)
c.2754T>C (p.Pro918=)
c.2736T>C (p.Pro912=)
c.2460T>C (p.Pro820=)
n.3035T>C
c.2628T>C (p.Pro876=)
c.2442T>C (p.Pro814=)
n.3038T>C
c.2733T>C (p.Pro911=)
c.2799T>C (p.Pro933=)
c.2751T>C (p.Pro917=)
c.2616T>C (p.Pro872=)
16g.28835668T>GCA494869011ATXN2Lc.2805T>G (p.Pro935=)
c.780T>G (p.Pro260=)
n.3179T>G
c.2823T>G (p.Pro941=)
c.1869T>G (n.1869T>G)
c.74T>G
c.783T>G (p.Pro261=)
c.325T>G
c.2826T>G (p.Pro942=)
c.2808T>G (p.Pro936=)
c.2646T>G (p.Pro882=)
c.2754T>G (p.Pro918=)
c.2736T>G (p.Pro912=)
c.2460T>G (p.Pro820=)
n.3035T>G
c.2628T>G (p.Pro876=)
c.2442T>G (p.Pro814=)
n.3038T>G
c.2733T>G (p.Pro911=)
c.2799T>G (p.Pro933=)
c.2751T>G (p.Pro917=)
c.2616T>G (p.Pro872=)
16g.28835669C>ACA395408310ATXN2Lc.2806C>A (p.Gln936Lys)
c.781C>A (p.Gln261Lys)
n.3180C>A
c.1C>A (p.Gln1Lys)
c.2824C>A (p.Gln942Lys)
c.1870C>A (n.1870C>A)
c.75C>A
c.784C>A (p.Gln262Lys)
c.326C>A
c.2827C>A (p.Gln943Lys)
c.2809C>A (p.Gln937Lys)
c.2647C>A (p.Gln883Lys)
c.2755C>A (p.Gln919Lys)
c.2737C>A (p.Gln913Lys)
c.2461C>A (p.Gln821Lys)
n.3036C>A
c.2629C>A (p.Gln877Lys)
c.2443C>A (p.Gln815Lys)
n.3039C>A
c.2734C>A (p.Gln912Lys)
c.2800C>A (p.Gln934Lys)
c.2752C>A (p.Gln918Lys)
c.2617C>A (p.Gln873Lys)
16g.28835669C>GCA395408308ATXN2Lc.2806C>G (p.Gln936Glu)
c.781C>G (p.Gln261Glu)
n.3180C>G
c.1C>G (p.Gln1Glu)
c.2824C>G (p.Gln942Glu)
c.1870C>G (n.1870C>G)
c.75C>G
c.784C>G (p.Gln262Glu)
c.326C>G
c.2827C>G (p.Gln943Glu)
c.2809C>G (p.Gln937Glu)
c.2647C>G (p.Gln883Glu)
c.2755C>G (p.Gln919Glu)
c.2737C>G (p.Gln913Glu)
c.2461C>G (p.Gln821Glu)
n.3036C>G
c.2629C>G (p.Gln877Glu)
c.2443C>G (p.Gln815Glu)
n.3039C>G
c.2734C>G (p.Gln912Glu)
c.2800C>G (p.Gln934Glu)
c.2752C>G (p.Gln918Glu)
c.2617C>G (p.Gln873Glu)
16g.28835669C>TCA395408309ATXN2Lc.2806C>T (p.Gln936Ter)
c.781C>T (p.Gln261Ter)
n.3180C>T
c.1C>T (p.Gln1Ter)
c.2824C>T (p.Gln942Ter)
c.1870C>T (n.1870C>T)
c.75C>T
c.784C>T (p.Gln262Ter)
c.326C>T
c.2827C>T (p.Gln943Ter)
c.2809C>T (p.Gln937Ter)
c.2647C>T (p.Gln883Ter)
c.2755C>T (p.Gln919Ter)
c.2737C>T (p.Gln913Ter)
c.2461C>T (p.Gln821Ter)
n.3036C>T
c.2629C>T (p.Gln877Ter)
c.2443C>T (p.Gln815Ter)
n.3039C>T
c.2734C>T (p.Gln912Ter)
c.2800C>T (p.Gln934Ter)
c.2752C>T (p.Gln918Ter)
c.2617C>T (p.Gln873Ter)
16g.28835670A>CCA395408311ATXN2Lc.2807A>C (p.Gln936Pro)
c.782A>C (p.Gln261Pro)
n.3181A>C
c.2A>C (p.Gln1Pro)
c.2825A>C (p.Gln942Pro)
c.1871A>C (n.1871A>C)
c.76A>C
c.785A>C (p.Gln262Pro)
c.327A>C
c.2828A>C (p.Gln943Pro)
c.2810A>C (p.Gln937Pro)
c.2648A>C (p.Gln883Pro)
c.2756A>C (p.Gln919Pro)
c.2738A>C (p.Gln913Pro)
c.2462A>C (p.Gln821Pro)
n.3037A>C
c.2630A>C (p.Gln877Pro)
c.2444A>C (p.Gln815Pro)
n.3040A>C
c.2735A>C (p.Gln912Pro)
c.2801A>C (p.Gln934Pro)
c.2753A>C (p.Gln918Pro)
c.2618A>C (p.Gln873Pro)
16g.28835670A>GCA395408312ATXN2Lc.2807A>G (p.Gln936Arg)
c.782A>G (p.Gln261Arg)
n.3181A>G
c.2A>G (p.Gln1Arg)
c.2825A>G (p.Gln942Arg)
c.1871A>G (n.1871A>G)
c.76A>G
c.785A>G (p.Gln262Arg)
c.327A>G
c.2828A>G (p.Gln943Arg)
c.2810A>G (p.Gln937Arg)
c.2648A>G (p.Gln883Arg)
c.2756A>G (p.Gln919Arg)
c.2738A>G (p.Gln913Arg)
c.2462A>G (p.Gln821Arg)
n.3037A>G
c.2630A>G (p.Gln877Arg)
c.2444A>G (p.Gln815Arg)
n.3040A>G
c.2735A>G (p.Gln912Arg)
c.2801A>G (p.Gln934Arg)
c.2753A>G (p.Gln918Arg)
c.2618A>G (p.Gln873Arg)
16g.28835670A>TCA395408313ATXN2Lc.2807A>T (p.Gln936Leu)
c.782A>T (p.Gln261Leu)
n.3181A>T
c.2A>T (p.Gln1Leu)
c.2825A>T (p.Gln942Leu)
c.1871A>T (n.1871A>T)
c.76A>T
c.785A>T (p.Gln262Leu)
c.327A>T
c.2828A>T (p.Gln943Leu)
c.2810A>T (p.Gln937Leu)
c.2648A>T (p.Gln883Leu)
c.2756A>T (p.Gln919Leu)
c.2738A>T (p.Gln913Leu)
c.2462A>T (p.Gln821Leu)
n.3037A>T
c.2630A>T (p.Gln877Leu)
c.2444A>T (p.Gln815Leu)
n.3040A>T
c.2735A>T (p.Gln912Leu)
c.2801A>T (p.Gln934Leu)
c.2753A>T (p.Gln918Leu)
c.2618A>T (p.Gln873Leu)
16g.28835671G>ACA494869038ATXN2Lc.2808G>A (p.Gln936=)
c.783G>A (p.Gln261=)
n.3182G>A
c.3G>A (p.Gln1=)
c.2826G>A (p.Gln942=)
c.1872G>A (n.1872G>A)
c.77G>A
c.786G>A (p.Gln262=)
c.328G>A
c.2829G>A (p.Gln943=)
c.2811G>A (p.Gln937=)
c.2649G>A (p.Gln883=)
c.2757G>A (p.Gln919=)
c.2739G>A (p.Gln913=)
c.2463G>A (p.Gln821=)
n.3038G>A
c.2631G>A (p.Gln877=)
c.2445G>A (p.Gln815=)
n.3041G>A
c.2736G>A (p.Gln912=)
c.2802G>A (p.Gln934=)
c.2754G>A (p.Gln918=)
c.2619G>A (p.Gln873=)
16g.28835671G>CCA395408314ATXN2Lc.2808G>C (p.Gln936His)
c.783G>C (p.Gln261His)
n.3182G>C
c.3G>C (p.Gln1His)
c.2826G>C (p.Gln942His)
c.1872G>C (n.1872G>C)
c.77G>C
c.786G>C (p.Gln262His)
c.328G>C
c.2829G>C (p.Gln943His)
c.2811G>C (p.Gln937His)
c.2649G>C (p.Gln883His)
c.2757G>C (p.Gln919His)
c.2739G>C (p.Gln913His)
c.2463G>C (p.Gln821His)
n.3038G>C
c.2631G>C (p.Gln877His)
c.2445G>C (p.Gln815His)
n.3041G>C
c.2736G>C (p.Gln912His)
c.2802G>C (p.Gln934His)
c.2754G>C (p.Gln918His)
c.2619G>C (p.Gln873His)
16g.28835671G>TCA395408315ATXN2Lc.2808G>T (p.Gln936His)
c.783G>T (p.Gln261His)
n.3182G>T
c.3G>T (p.Gln1His)
c.2826G>T (p.Gln942His)
c.1872G>T (n.1872G>T)
c.77G>T
c.786G>T (p.Gln262His)
c.328G>T
c.2829G>T (p.Gln943His)
c.2811G>T (p.Gln937His)
c.2649G>T (p.Gln883His)
c.2757G>T (p.Gln919His)
c.2739G>T (p.Gln913His)
c.2463G>T (p.Gln821His)
n.3038G>T
c.2631G>T (p.Gln877His)
c.2445G>T (p.Gln815His)
n.3041G>T
c.2736G>T (p.Gln912His)
c.2802G>T (p.Gln934His)
c.2754G>T (p.Gln918His)
c.2619G>T (p.Gln873His)
16g.28835672A>CCA395408316ATXN2Lc.2809A>C (p.Ser937Arg)
c.784A>C (p.Ser262Arg)
n.3183A>C
c.4A>C (p.Ser2Arg)
c.2827A>C (p.Ser943Arg)
c.1873A>C (n.1873A>C)
c.78A>C
c.787A>C (p.Ser263Arg)
c.329A>C
c.2830A>C (p.Ser944Arg)
c.2812A>C (p.Ser938Arg)
c.2650A>C (p.Ser884Arg)
c.2758A>C (p.Ser920Arg)
c.2740A>C (p.Ser914Arg)
c.2464A>C (p.Ser822Arg)
n.3039A>C
c.2632A>C (p.Ser878Arg)
c.2446A>C (p.Ser816Arg)
n.3042A>C
c.2737A>C (p.Ser913Arg)
c.2803A>C (p.Ser935Arg)
c.2755A>C (p.Ser919Arg)
c.2620A>C (p.Ser874Arg)
16g.28835672A>GCA395408318ATXN2Lc.2809A>G (p.Ser937Gly)
c.784A>G (p.Ser262Gly)
n.3183A>G
c.4A>G (p.Ser2Gly)
c.2827A>G (p.Ser943Gly)
c.1873A>G (n.1873A>G)
c.78A>G
c.787A>G (p.Ser263Gly)
c.329A>G
c.2830A>G (p.Ser944Gly)
c.2812A>G (p.Ser938Gly)
c.2650A>G (p.Ser884Gly)
c.2758A>G (p.Ser920Gly)
c.2740A>G (p.Ser914Gly)
c.2464A>G (p.Ser822Gly)
n.3039A>G
c.2632A>G (p.Ser878Gly)
c.2446A>G (p.Ser816Gly)
n.3042A>G
c.2737A>G (p.Ser913Gly)
c.2803A>G (p.Ser935Gly)
c.2755A>G (p.Ser919Gly)
c.2620A>G (p.Ser874Gly)
16g.28835672A>TCA395408317ATXN2Lc.2809A>T (p.Ser937Cys)
c.784A>T (p.Ser262Cys)
n.3183A>T
c.4A>T (p.Ser2Cys)
c.2827A>T (p.Ser943Cys)
c.1873A>T (n.1873A>T)
c.78A>T
c.787A>T (p.Ser263Cys)
c.329A>T
c.2830A>T (p.Ser944Cys)
c.2812A>T (p.Ser938Cys)
c.2650A>T (p.Ser884Cys)
c.2758A>T (p.Ser920Cys)
c.2740A>T (p.Ser914Cys)
c.2464A>T (p.Ser822Cys)
n.3039A>T
c.2632A>T (p.Ser878Cys)
c.2446A>T (p.Ser816Cys)
n.3042A>T
c.2737A>T (p.Ser913Cys)
c.2803A>T (p.Ser935Cys)
c.2755A>T (p.Ser919Cys)
c.2620A>T (p.Ser874Cys)
16g.28835673G>ACA7985096ATXN2Lc.2810G>A (p.Ser937Asn)
c.785G>A (p.Ser262Asn)
n.3184G>A
c.5G>A (p.Ser2Asn)
c.2828G>A (p.Ser943Asn)
c.1874G>A (n.1874G>A)
c.79G>A
c.788G>A (p.Ser263Asn)
c.330G>A
c.2831G>A (p.Ser944Asn)
c.2813G>A (p.Ser938Asn)
c.2651G>A (p.Ser884Asn)
c.2759G>A (p.Ser920Asn)
c.2741G>A (p.Ser914Asn)
c.2465G>A (p.Ser822Asn)
n.3040G>A
c.2633G>A (p.Ser878Asn)
c.2447G>A (p.Ser816Asn)
n.3043G>A
c.2738G>A (p.Ser913Asn)
c.2804G>A (p.Ser935Asn)
c.2756G>A (p.Ser919Asn)
c.2621G>A (p.Ser874Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835673G>CCA395408319ATXN2Lc.2810G>C (p.Ser937Thr)
c.785G>C (p.Ser262Thr)
n.3184G>C
c.5G>C (p.Ser2Thr)
c.2828G>C (p.Ser943Thr)
c.1874G>C (n.1874G>C)
c.79G>C
c.788G>C (p.Ser263Thr)
c.330G>C
c.2831G>C (p.Ser944Thr)
c.2813G>C (p.Ser938Thr)
c.2651G>C (p.Ser884Thr)
c.2759G>C (p.Ser920Thr)
c.2741G>C (p.Ser914Thr)
c.2465G>C (p.Ser822Thr)
n.3040G>C
c.2633G>C (p.Ser878Thr)
c.2447G>C (p.Ser816Thr)
n.3043G>C
c.2738G>C (p.Ser913Thr)
c.2804G>C (p.Ser935Thr)
c.2756G>C (p.Ser919Thr)
c.2621G>C (p.Ser874Thr)
16g.28835673G=CA2215806414ATXN2Lc.2810G= (p.Ser937=)
c.785G= (p.Ser262=)
n.3184G=
c.5G= (p.Ser2=)
c.2828G= (p.Ser943=)
c.1874G= (n.1874G=)
c.79G=
c.788G= (p.Ser263=)
c.330G=
c.2831G= (p.Ser944=)
c.2813G= (p.Ser938=)
c.2651G= (p.Ser884=)
c.2759G= (p.Ser920=)
c.2741G= (p.Ser914=)
c.2465G= (p.Ser822=)
n.3040G=
c.2633G= (p.Ser878=)
c.2447G= (p.Ser816=)
n.3043G=
c.2738G= (p.Ser913=)
c.2804G= (p.Ser935=)
c.2756G= (p.Ser919=)
c.2621G= (p.Ser874=)
16g.28835673G>TCA395408320ATXN2Lc.2810G>T (p.Ser937Ile)
c.785G>T (p.Ser262Ile)
n.3184G>T
c.5G>T (p.Ser2Ile)
c.2828G>T (p.Ser943Ile)
c.1874G>T (n.1874G>T)
c.79G>T
c.788G>T (p.Ser263Ile)
c.330G>T
c.2831G>T (p.Ser944Ile)
c.2813G>T (p.Ser938Ile)
c.2651G>T (p.Ser884Ile)
c.2759G>T (p.Ser920Ile)
c.2741G>T (p.Ser914Ile)
c.2465G>T (p.Ser822Ile)
n.3040G>T
c.2633G>T (p.Ser878Ile)
c.2447G>T (p.Ser816Ile)
n.3043G>T
c.2738G>T (p.Ser913Ile)
c.2804G>T (p.Ser935Ile)
c.2756G>T (p.Ser919Ile)
c.2621G>T (p.Ser874Ile)
16g.28835674C>ACA395408321ATXN2Lc.2811C>A (p.Ser937Arg)
c.786C>A (p.Ser262Arg)
n.3185C>A
c.6C>A (p.Ser2Arg)
c.2829C>A (p.Ser943Arg)
c.1875C>A (n.1875C>A)
c.80C>A
c.789C>A (p.Ser263Arg)
c.331C>A
c.2832C>A (p.Ser944Arg)
c.2814C>A (p.Ser938Arg)
c.2652C>A (p.Ser884Arg)
c.2760C>A (p.Ser920Arg)
c.2742C>A (p.Ser914Arg)
c.2466C>A (p.Ser822Arg)
n.3041C>A
c.2634C>A (p.Ser878Arg)
c.2448C>A (p.Ser816Arg)
n.3044C>A
c.2739C>A (p.Ser913Arg)
c.2805C>A (p.Ser935Arg)
c.2757C>A (p.Ser919Arg)
c.2622C>A (p.Ser874Arg)
16g.28835674C>GCA395408322ATXN2Lc.2811C>G (p.Ser937Arg)
c.786C>G (p.Ser262Arg)
n.3185C>G
c.6C>G (p.Ser2Arg)
c.2829C>G (p.Ser943Arg)
c.1875C>G (n.1875C>G)
c.80C>G
c.789C>G (p.Ser263Arg)
c.331C>G
c.2832C>G (p.Ser944Arg)
c.2814C>G (p.Ser938Arg)
c.2652C>G (p.Ser884Arg)
c.2760C>G (p.Ser920Arg)
c.2742C>G (p.Ser914Arg)
c.2466C>G (p.Ser822Arg)
n.3041C>G
c.2634C>G (p.Ser878Arg)
c.2448C>G (p.Ser816Arg)
n.3044C>G
c.2739C>G (p.Ser913Arg)
c.2805C>G (p.Ser935Arg)
c.2757C>G (p.Ser919Arg)
c.2622C>G (p.Ser874Arg)
16g.28835674C>TCA494869064ATXN2Lc.2811C>T (p.Ser937=)
c.786C>T (p.Ser262=)
n.3185C>T
c.6C>T (p.Ser2=)
c.2829C>T (p.Ser943=)
c.1875C>T (n.1875C>T)
c.80C>T
c.789C>T (p.Ser263=)
c.331C>T
c.2832C>T (p.Ser944=)
c.2814C>T (p.Ser938=)
c.2652C>T (p.Ser884=)
c.2760C>T (p.Ser920=)
c.2742C>T (p.Ser914=)
c.2466C>T (p.Ser822=)
n.3041C>T
c.2634C>T (p.Ser878=)
c.2448C>T (p.Ser816=)
n.3044C>T
c.2739C>T (p.Ser913=)
c.2805C>T (p.Ser935=)
c.2757C>T (p.Ser919=)
c.2622C>T (p.Ser874=)
 gnomAD v4
16g.28835675A>CCA395408323ATXN2Lc.2812A>C (p.Ser938Arg)
c.787A>C (p.Ser263Arg)
n.3186A>C
c.7A>C (p.Ser3Arg)
c.2830A>C (p.Ser944Arg)
c.1876A>C (n.1876A>C)
c.81A>C
c.790A>C (p.Ser264Arg)
c.332A>C
c.2833A>C (p.Ser945Arg)
c.2815A>C (p.Ser939Arg)
c.2653A>C (p.Ser885Arg)
c.2761A>C (p.Ser921Arg)
c.2743A>C (p.Ser915Arg)
c.2467A>C (p.Ser823Arg)
n.3042A>C
c.2635A>C (p.Ser879Arg)
c.2449A>C (p.Ser817Arg)
n.3045A>C
c.2740A>C (p.Ser914Arg)
c.2806A>C (p.Ser936Arg)
c.2758A>C (p.Ser920Arg)
c.2623A>C (p.Ser875Arg)
16g.28835675A>GCA395408324ATXN2Lc.2812A>G (p.Ser938Gly)
c.787A>G (p.Ser263Gly)
n.3186A>G
c.7A>G (p.Ser3Gly)
c.2830A>G (p.Ser944Gly)
c.1876A>G (n.1876A>G)
c.81A>G
c.790A>G (p.Ser264Gly)
c.332A>G
c.2833A>G (p.Ser945Gly)
c.2815A>G (p.Ser939Gly)
c.2653A>G (p.Ser885Gly)
c.2761A>G (p.Ser921Gly)
c.2743A>G (p.Ser915Gly)
c.2467A>G (p.Ser823Gly)
n.3042A>G
c.2635A>G (p.Ser879Gly)
c.2449A>G (p.Ser817Gly)
n.3045A>G
c.2740A>G (p.Ser914Gly)
c.2806A>G (p.Ser936Gly)
c.2758A>G (p.Ser920Gly)
c.2623A>G (p.Ser875Gly)
16g.28835675A>TCA395408325ATXN2Lc.2812A>T (p.Ser938Cys)
c.787A>T (p.Ser263Cys)
n.3186A>T
c.7A>T (p.Ser3Cys)
c.2830A>T (p.Ser944Cys)
c.1876A>T (n.1876A>T)
c.81A>T
c.790A>T (p.Ser264Cys)
c.332A>T
c.2833A>T (p.Ser945Cys)
c.2815A>T (p.Ser939Cys)
c.2653A>T (p.Ser885Cys)
c.2761A>T (p.Ser921Cys)
c.2743A>T (p.Ser915Cys)
c.2467A>T (p.Ser823Cys)
n.3042A>T
c.2635A>T (p.Ser879Cys)
c.2449A>T (p.Ser817Cys)
n.3045A>T
c.2740A>T (p.Ser914Cys)
c.2806A>T (p.Ser936Cys)
c.2758A>T (p.Ser920Cys)
c.2623A>T (p.Ser875Cys)
16g.28835676G>ACA395408326ATXN2Lc.2813G>A (p.Ser938Asn)
c.788G>A (p.Ser263Asn)
n.3187G>A
c.8G>A (p.Ser3Asn)
c.2831G>A (p.Ser944Asn)
c.1877G>A (n.1877G>A)
c.82G>A
c.791G>A (p.Ser264Asn)
c.333G>A
c.2834G>A (p.Ser945Asn)
c.2816G>A (p.Ser939Asn)
c.2654G>A (p.Ser885Asn)
c.2762G>A (p.Ser921Asn)
c.2744G>A (p.Ser915Asn)
c.2468G>A (p.Ser823Asn)
n.3043G>A
c.2636G>A (p.Ser879Asn)
c.2450G>A (p.Ser817Asn)
n.3046G>A
c.2741G>A (p.Ser914Asn)
c.2807G>A (p.Ser936Asn)
c.2759G>A (p.Ser920Asn)
c.2624G>A (p.Ser875Asn)
 gnomAD v4
16g.28835676G>CCA395408327ATXN2Lc.2813G>C (p.Ser938Thr)
c.788G>C (p.Ser263Thr)
n.3187G>C
c.8G>C (p.Ser3Thr)
c.2831G>C (p.Ser944Thr)
c.1877G>C (n.1877G>C)
c.82G>C
c.791G>C (p.Ser264Thr)
c.333G>C
c.2834G>C (p.Ser945Thr)
c.2816G>C (p.Ser939Thr)
c.2654G>C (p.Ser885Thr)
c.2762G>C (p.Ser921Thr)
c.2744G>C (p.Ser915Thr)
c.2468G>C (p.Ser823Thr)
n.3043G>C
c.2636G>C (p.Ser879Thr)
c.2450G>C (p.Ser817Thr)
n.3046G>C
c.2741G>C (p.Ser914Thr)
c.2807G>C (p.Ser936Thr)
c.2759G>C (p.Ser920Thr)
c.2624G>C (p.Ser875Thr)
 dbSNP gnomAD v4
16g.28835676G=CA2215806417ATXN2Lc.2813G= (p.Ser938=)
c.788G= (p.Ser263=)
n.3187G=
c.8G= (p.Ser3=)
c.2831G= (p.Ser944=)
c.1877G= (n.1877G=)
c.82G=
c.791G= (p.Ser264=)
c.333G=
c.2834G= (p.Ser945=)
c.2816G= (p.Ser939=)
c.2654G= (p.Ser885=)
c.2762G= (p.Ser921=)
c.2744G= (p.Ser915=)
c.2468G= (p.Ser823=)
n.3043G=
c.2636G= (p.Ser879=)
c.2450G= (p.Ser817=)
n.3046G=
c.2741G= (p.Ser914=)
c.2807G= (p.Ser936=)
c.2759G= (p.Ser920=)
c.2624G= (p.Ser875=)
16g.28835676G>TCA395408328ATXN2Lc.2813G>T (p.Ser938Ile)
c.788G>T (p.Ser263Ile)
n.3187G>T
c.8G>T (p.Ser3Ile)
c.2831G>T (p.Ser944Ile)
c.1877G>T (n.1877G>T)
c.82G>T
c.791G>T (p.Ser264Ile)
c.333G>T
c.2834G>T (p.Ser945Ile)
c.2816G>T (p.Ser939Ile)
c.2654G>T (p.Ser885Ile)
c.2762G>T (p.Ser921Ile)
c.2744G>T (p.Ser915Ile)
c.2468G>T (p.Ser823Ile)
n.3043G>T
c.2636G>T (p.Ser879Ile)
c.2450G>T (p.Ser817Ile)
n.3046G>T
c.2741G>T (p.Ser914Ile)
c.2807G>T (p.Ser936Ile)
c.2759G>T (p.Ser920Ile)
c.2624G>T (p.Ser875Ile)
16g.28835677C>ACA395408329ATXN2Lc.2814C>A (p.Ser938Arg)
c.789C>A (p.Ser263Arg)
n.3188C>A
c.9C>A (p.Ser3Arg)
c.2832C>A (p.Ser944Arg)
c.1878C>A (n.1878C>A)
c.83C>A
c.792C>A (p.Ser264Arg)
c.334C>A
c.2835C>A (p.Ser945Arg)
c.2817C>A (p.Ser939Arg)
c.2655C>A (p.Ser885Arg)
c.2763C>A (p.Ser921Arg)
c.2745C>A (p.Ser915Arg)
c.2469C>A (p.Ser823Arg)
n.3044C>A
c.2637C>A (p.Ser879Arg)
c.2451C>A (p.Ser817Arg)
n.3047C>A
c.2742C>A (p.Ser914Arg)
c.2808C>A (p.Ser936Arg)
c.2760C>A (p.Ser920Arg)
c.2625C>A (p.Ser875Arg)
16g.28835677C>GCA395408330ATXN2Lc.2814C>G (p.Ser938Arg)
c.789C>G (p.Ser263Arg)
n.3188C>G
c.9C>G (p.Ser3Arg)
c.2832C>G (p.Ser944Arg)
c.1878C>G (n.1878C>G)
c.83C>G
c.792C>G (p.Ser264Arg)
c.334C>G
c.2835C>G (p.Ser945Arg)
c.2817C>G (p.Ser939Arg)
c.2655C>G (p.Ser885Arg)
c.2763C>G (p.Ser921Arg)
c.2745C>G (p.Ser915Arg)
c.2469C>G (p.Ser823Arg)
n.3044C>G
c.2637C>G (p.Ser879Arg)
c.2451C>G (p.Ser817Arg)
n.3047C>G
c.2742C>G (p.Ser914Arg)
c.2808C>G (p.Ser936Arg)
c.2760C>G (p.Ser920Arg)
c.2625C>G (p.Ser875Arg)
16g.28835677C>TCA494869085ATXN2Lc.2814C>T (p.Ser938=)
c.789C>T (p.Ser263=)
n.3188C>T
c.9C>T (p.Ser3=)
c.2832C>T (p.Ser944=)
c.1878C>T (n.1878C>T)
c.83C>T
c.792C>T (p.Ser264=)
c.334C>T
c.2835C>T (p.Ser945=)
c.2817C>T (p.Ser939=)
c.2655C>T (p.Ser885=)
c.2763C>T (p.Ser921=)
c.2745C>T (p.Ser915=)
c.2469C>T (p.Ser823=)
n.3044C>T
c.2637C>T (p.Ser879=)
c.2451C>T (p.Ser817=)
n.3047C>T
c.2742C>T (p.Ser914=)
c.2808C>T (p.Ser936=)
c.2760C>T (p.Ser920=)
c.2625C>T (p.Ser875=)
16g.28835678T>ACA395408331ATXN2Lc.2815T>A (p.Phe939Ile)
c.790T>A (p.Phe264Ile)
n.3189T>A
c.10T>A (p.Phe4Ile)
c.2833T>A (p.Phe945Ile)
c.1879T>A (n.1879T>A)
c.84T>A
c.793T>A (p.Phe265Ile)
c.335T>A
c.2836T>A (p.Phe946Ile)
c.2818T>A (p.Phe940Ile)
c.2656T>A (p.Phe886Ile)
c.2764T>A (p.Phe922Ile)
c.2746T>A (p.Phe916Ile)
c.2470T>A (p.Phe824Ile)
n.3045T>A
c.2638T>A (p.Phe880Ile)
c.2452T>A (p.Phe818Ile)
n.3048T>A
c.2743T>A (p.Phe915Ile)
c.2809T>A (p.Phe937Ile)
c.2761T>A (p.Phe921Ile)
c.2626T>A (p.Phe876Ile)
16g.28835678T>CCA395408333ATXN2Lc.2815T>C (p.Phe939Leu)
c.790T>C (p.Phe264Leu)
n.3189T>C
c.10T>C (p.Phe4Leu)
c.2833T>C (p.Phe945Leu)
c.1879T>C (n.1879T>C)
c.84T>C
c.793T>C (p.Phe265Leu)
c.335T>C
c.2836T>C (p.Phe946Leu)
c.2818T>C (p.Phe940Leu)
c.2656T>C (p.Phe886Leu)
c.2764T>C (p.Phe922Leu)
c.2746T>C (p.Phe916Leu)
c.2470T>C (p.Phe824Leu)
n.3045T>C
c.2638T>C (p.Phe880Leu)
c.2452T>C (p.Phe818Leu)
n.3048T>C
c.2743T>C (p.Phe915Leu)
c.2809T>C (p.Phe937Leu)
c.2761T>C (p.Phe921Leu)
c.2626T>C (p.Phe876Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835678T>GCA395408335ATXN2Lc.2815T>G (p.Phe939Val)
c.790T>G (p.Phe264Val)
n.3189T>G
c.10T>G (p.Phe4Val)
c.2833T>G (p.Phe945Val)
c.1879T>G (n.1879T>G)
c.84T>G
c.793T>G (p.Phe265Val)
c.335T>G
c.2836T>G (p.Phe946Val)
c.2818T>G (p.Phe940Val)
c.2656T>G (p.Phe886Val)
c.2764T>G (p.Phe922Val)
c.2746T>G (p.Phe916Val)
c.2470T>G (p.Phe824Val)
n.3045T>G
c.2638T>G (p.Phe880Val)
c.2452T>G (p.Phe818Val)
n.3048T>G
c.2743T>G (p.Phe915Val)
c.2809T>G (p.Phe937Val)
c.2761T>G (p.Phe921Val)
c.2626T>G (p.Phe876Val)
16g.28835678T=CA2215806422ATXN2Lc.2815T= (p.Phe939=)
c.790T= (p.Phe264=)
n.3189T=
c.10T= (p.Phe4=)
c.2833T= (p.Phe945=)
c.1879T= (n.1879T=)
c.84T=
c.793T= (p.Phe265=)
c.335T=
c.2836T= (p.Phe946=)
c.2818T= (p.Phe940=)
c.2656T= (p.Phe886=)
c.2764T= (p.Phe922=)
c.2746T= (p.Phe916=)
c.2470T= (p.Phe824=)
n.3045T=
c.2638T= (p.Phe880=)
c.2452T= (p.Phe818=)
n.3048T=
c.2743T= (p.Phe915=)
c.2809T= (p.Phe937=)
c.2761T= (p.Phe921=)
c.2626T= (p.Phe876=)
16g.28835679T>ACA395408337ATXN2Lc.2816T>A (p.Phe939Tyr)
c.791T>A (p.Phe264Tyr)
n.3190T>A
c.11T>A (p.Phe4Tyr)
c.2834T>A (p.Phe945Tyr)
c.1880T>A (n.1880T>A)
c.85T>A
c.794T>A (p.Phe265Tyr)
c.336T>A
c.2837T>A (p.Phe946Tyr)
c.2819T>A (p.Phe940Tyr)
c.2657T>A (p.Phe886Tyr)
c.2765T>A (p.Phe922Tyr)
c.2747T>A (p.Phe916Tyr)
c.2471T>A (p.Phe824Tyr)
n.3046T>A
c.2639T>A (p.Phe880Tyr)
c.2453T>A (p.Phe818Tyr)
n.3049T>A
c.2744T>A (p.Phe915Tyr)
c.2810T>A (p.Phe937Tyr)
c.2762T>A (p.Phe921Tyr)
c.2627T>A (p.Phe876Tyr)
16g.28835679T>CCA395408339ATXN2Lc.2816T>C (p.Phe939Ser)
c.791T>C (p.Phe264Ser)
n.3190T>C
c.11T>C (p.Phe4Ser)
c.2834T>C (p.Phe945Ser)
c.1880T>C (n.1880T>C)
c.85T>C
c.794T>C (p.Phe265Ser)
c.336T>C
c.2837T>C (p.Phe946Ser)
c.2819T>C (p.Phe940Ser)
c.2657T>C (p.Phe886Ser)
c.2765T>C (p.Phe922Ser)
c.2747T>C (p.Phe916Ser)
c.2471T>C (p.Phe824Ser)
n.3046T>C
c.2639T>C (p.Phe880Ser)
c.2453T>C (p.Phe818Ser)
n.3049T>C
c.2744T>C (p.Phe915Ser)
c.2810T>C (p.Phe937Ser)
c.2762T>C (p.Phe921Ser)
c.2627T>C (p.Phe876Ser)
16g.28835679T>GCA395408341ATXN2Lc.2816T>G (p.Phe939Cys)
c.791T>G (p.Phe264Cys)
n.3190T>G
c.11T>G (p.Phe4Cys)
c.2834T>G (p.Phe945Cys)
c.1880T>G (n.1880T>G)
c.85T>G
c.794T>G (p.Phe265Cys)
c.336T>G
c.2837T>G (p.Phe946Cys)
c.2819T>G (p.Phe940Cys)
c.2657T>G (p.Phe886Cys)
c.2765T>G (p.Phe922Cys)
c.2747T>G (p.Phe916Cys)
c.2471T>G (p.Phe824Cys)
n.3046T>G
c.2639T>G (p.Phe880Cys)
c.2453T>G (p.Phe818Cys)
n.3049T>G
c.2744T>G (p.Phe915Cys)
c.2810T>G (p.Phe937Cys)
c.2762T>G (p.Phe921Cys)
c.2627T>G (p.Phe876Cys)
16g.28835680C>ACA395408344ATXN2Lc.2817C>A (p.Phe939Leu)
c.792C>A (p.Phe264Leu)
n.3191C>A
c.12C>A (p.Phe4Leu)
c.2835C>A (p.Phe945Leu)
c.1881C>A (n.1881C>A)
c.86C>A
c.795C>A (p.Phe265Leu)
c.337C>A
c.2838C>A (p.Phe946Leu)
c.2820C>A (p.Phe940Leu)
c.2658C>A (p.Phe886Leu)
c.2766C>A (p.Phe922Leu)
c.2748C>A (p.Phe916Leu)
c.2472C>A (p.Phe824Leu)
n.3047C>A
c.2640C>A (p.Phe880Leu)
c.2454C>A (p.Phe818Leu)
n.3050C>A
c.2745C>A (p.Phe915Leu)
c.2811C>A (p.Phe937Leu)
c.2763C>A (p.Phe921Leu)
c.2628C>A (p.Phe876Leu)
16g.28835680C>GCA395408346ATXN2Lc.2817C>G (p.Phe939Leu)
c.792C>G (p.Phe264Leu)
n.3191C>G
c.12C>G (p.Phe4Leu)
c.2835C>G (p.Phe945Leu)
c.1881C>G (n.1881C>G)
c.86C>G
c.795C>G (p.Phe265Leu)
c.337C>G
c.2838C>G (p.Phe946Leu)
c.2820C>G (p.Phe940Leu)
c.2658C>G (p.Phe886Leu)
c.2766C>G (p.Phe922Leu)
c.2748C>G (p.Phe916Leu)
c.2472C>G (p.Phe824Leu)
n.3047C>G
c.2640C>G (p.Phe880Leu)
c.2454C>G (p.Phe818Leu)
n.3050C>G
c.2745C>G (p.Phe915Leu)
c.2811C>G (p.Phe937Leu)
c.2763C>G (p.Phe921Leu)
c.2628C>G (p.Phe876Leu)
16g.28835680C>TCA494869108ATXN2Lc.2817C>T (p.Phe939=)
c.792C>T (p.Phe264=)
n.3191C>T
c.12C>T (p.Phe4=)
c.2835C>T (p.Phe945=)
c.1881C>T (n.1881C>T)
c.86C>T
c.795C>T (p.Phe265=)
c.337C>T
c.2838C>T (p.Phe946=)
c.2820C>T (p.Phe940=)
c.2658C>T (p.Phe886=)
c.2766C>T (p.Phe922=)
c.2748C>T (p.Phe916=)
c.2472C>T (p.Phe824=)
n.3047C>T
c.2640C>T (p.Phe880=)
c.2454C>T (p.Phe818=)
n.3050C>T
c.2745C>T (p.Phe915=)
c.2811C>T (p.Phe937=)
c.2763C>T (p.Phe921=)
c.2628C>T (p.Phe876=)
16g.28835681C>ACA395408349ATXN2Lc.2818C>A (p.Pro940Thr)
c.793C>A (p.Pro265Thr)
n.3192C>A
c.13C>A (p.Pro5Thr)
c.2836C>A (p.Pro946Thr)
c.1882C>A (n.1882C>A)
c.87C>A
c.796C>A (p.Pro266Thr)
c.338C>A
c.2839C>A (p.Pro947Thr)
c.2821C>A (p.Pro941Thr)
c.2659C>A (p.Pro887Thr)
c.2767C>A (p.Pro923Thr)
c.2749C>A (p.Pro917Thr)
c.2473C>A (p.Pro825Thr)
n.3048C>A
c.2641C>A (p.Pro881Thr)
c.2455C>A (p.Pro819Thr)
n.3051C>A
c.2746C>A (p.Pro916Thr)
c.2812C>A (p.Pro938Thr)
c.2764C>A (p.Pro922Thr)
c.2629C>A (p.Pro877Thr)
16g.28835681C>GCA395408352ATXN2Lc.2818C>G (p.Pro940Ala)
c.793C>G (p.Pro265Ala)
n.3192C>G
c.13C>G (p.Pro5Ala)
c.2836C>G (p.Pro946Ala)
c.1882C>G (n.1882C>G)
c.87C>G
c.796C>G (p.Pro266Ala)
c.338C>G
c.2839C>G (p.Pro947Ala)
c.2821C>G (p.Pro941Ala)
c.2659C>G (p.Pro887Ala)
c.2767C>G (p.Pro923Ala)
c.2749C>G (p.Pro917Ala)
c.2473C>G (p.Pro825Ala)
n.3048C>G
c.2641C>G (p.Pro881Ala)
c.2455C>G (p.Pro819Ala)
n.3051C>G
c.2746C>G (p.Pro916Ala)
c.2812C>G (p.Pro938Ala)
c.2764C>G (p.Pro922Ala)
c.2629C>G (p.Pro877Ala)
16g.28835681C>TCA395408354ATXN2Lc.2818C>T (p.Pro940Ser)
c.793C>T (p.Pro265Ser)
n.3192C>T
c.13C>T (p.Pro5Ser)
c.2836C>T (p.Pro946Ser)
c.1882C>T (n.1882C>T)
c.87C>T
c.796C>T (p.Pro266Ser)
c.338C>T
c.2839C>T (p.Pro947Ser)
c.2821C>T (p.Pro941Ser)
c.2659C>T (p.Pro887Ser)
c.2767C>T (p.Pro923Ser)
c.2749C>T (p.Pro917Ser)
c.2473C>T (p.Pro825Ser)
n.3048C>T
c.2641C>T (p.Pro881Ser)
c.2455C>T (p.Pro819Ser)
n.3051C>T
c.2746C>T (p.Pro916Ser)
c.2812C>T (p.Pro938Ser)
c.2764C>T (p.Pro922Ser)
c.2629C>T (p.Pro877Ser)
16g.28835682C>ACA395408357ATXN2Lc.2819C>A (p.Pro940His)
c.794C>A (p.Pro265His)
n.3193C>A
c.14C>A (p.Pro5His)
c.2837C>A (p.Pro946His)
c.1883C>A (n.1883C>A)
c.88C>A
c.797C>A (p.Pro266His)
c.339C>A
c.2840C>A (p.Pro947His)
c.2822C>A (p.Pro941His)
c.2660C>A (p.Pro887His)
c.2768C>A (p.Pro923His)
c.2750C>A (p.Pro917His)
c.2474C>A (p.Pro825His)
n.3049C>A
c.2642C>A (p.Pro881His)
c.2456C>A (p.Pro819His)
n.3052C>A
c.2747C>A (p.Pro916His)
c.2813C>A (p.Pro938His)
c.2765C>A (p.Pro922His)
c.2630C>A (p.Pro877His)
16g.28835682C>GCA395408359ATXN2Lc.2819C>G (p.Pro940Arg)
c.794C>G (p.Pro265Arg)
n.3193C>G
c.14C>G (p.Pro5Arg)
c.2837C>G (p.Pro946Arg)
c.1883C>G (n.1883C>G)
c.88C>G
c.797C>G (p.Pro266Arg)
c.339C>G
c.2840C>G (p.Pro947Arg)
c.2822C>G (p.Pro941Arg)
c.2660C>G (p.Pro887Arg)
c.2768C>G (p.Pro923Arg)
c.2750C>G (p.Pro917Arg)
c.2474C>G (p.Pro825Arg)
n.3049C>G
c.2642C>G (p.Pro881Arg)
c.2456C>G (p.Pro819Arg)
n.3052C>G
c.2747C>G (p.Pro916Arg)
c.2813C>G (p.Pro938Arg)
c.2765C>G (p.Pro922Arg)
c.2630C>G (p.Pro877Arg)
16g.28835682C>TCA395408361ATXN2Lc.2819C>T (p.Pro940Leu)
c.794C>T (p.Pro265Leu)
n.3193C>T
c.14C>T (p.Pro5Leu)
c.2837C>T (p.Pro946Leu)
c.1883C>T (n.1883C>T)
c.88C>T
c.797C>T (p.Pro266Leu)
c.339C>T
c.2840C>T (p.Pro947Leu)
c.2822C>T (p.Pro941Leu)
c.2660C>T (p.Pro887Leu)
c.2768C>T (p.Pro923Leu)
c.2750C>T (p.Pro917Leu)
c.2474C>T (p.Pro825Leu)
n.3049C>T
c.2642C>T (p.Pro881Leu)
c.2456C>T (p.Pro819Leu)
n.3052C>T
c.2747C>T (p.Pro916Leu)
c.2813C>T (p.Pro938Leu)
c.2765C>T (p.Pro922Leu)
c.2630C>T (p.Pro877Leu)
16g.28835683C>ACA494869129ATXN2Lc.2820C>A (p.Pro940=)
c.795C>A (p.Pro265=)
n.3194C>A
c.15C>A (p.Pro5=)
c.2838C>A (p.Pro946=)
c.1884C>A (n.1884C>A)
c.89C>A
c.798C>A (p.Pro266=)
c.340C>A
c.2841C>A (p.Pro947=)
c.2823C>A (p.Pro941=)
c.2661C>A (p.Pro887=)
c.2769C>A (p.Pro923=)
c.2751C>A (p.Pro917=)
c.2475C>A (p.Pro825=)
n.3050C>A
c.2643C>A (p.Pro881=)
c.2457C>A (p.Pro819=)
n.3053C>A
c.2748C>A (p.Pro916=)
c.2814C>A (p.Pro938=)
c.2766C>A (p.Pro922=)
c.2631C>A (p.Pro877=)
 gnomAD v4
16g.28835683C=CA2215806424ATXN2Lc.2820C= (p.Pro940=)
c.795C= (p.Pro265=)
n.3194C=
c.15C= (p.Pro5=)
c.2838C= (p.Pro946=)
c.1884C= (n.1884C=)
c.89C=
c.798C= (p.Pro266=)
c.340C=
c.2841C= (p.Pro947=)
c.2823C= (p.Pro941=)
c.2661C= (p.Pro887=)
c.2769C= (p.Pro923=)
c.2751C= (p.Pro917=)
c.2475C= (p.Pro825=)
n.3050C=
c.2643C= (p.Pro881=)
c.2457C= (p.Pro819=)
n.3053C=
c.2748C= (p.Pro916=)
c.2814C= (p.Pro938=)
c.2766C= (p.Pro922=)
c.2631C= (p.Pro877=)
16g.28835683C>GCA7985097ATXN2Lc.2820C>G (p.Pro940=)
c.795C>G (p.Pro265=)
n.3194C>G
c.15C>G (p.Pro5=)
c.2838C>G (p.Pro946=)
c.1884C>G (n.1884C>G)
c.89C>G
c.798C>G (p.Pro266=)
c.340C>G
c.2841C>G (p.Pro947=)
c.2823C>G (p.Pro941=)
c.2661C>G (p.Pro887=)
c.2769C>G (p.Pro923=)
c.2751C>G (p.Pro917=)
c.2475C>G (p.Pro825=)
n.3050C>G
c.2643C>G (p.Pro881=)
c.2457C>G (p.Pro819=)
n.3053C>G
c.2748C>G (p.Pro916=)
c.2814C>G (p.Pro938=)
c.2766C>G (p.Pro922=)
c.2631C>G (p.Pro877=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835683C>TCA7985098ATXN2Lc.2820C>T (p.Pro940=)
c.795C>T (p.Pro265=)
n.3194C>T
c.15C>T (p.Pro5=)
c.2838C>T (p.Pro946=)
c.1884C>T (n.1884C>T)
c.89C>T
c.798C>T (p.Pro266=)
c.340C>T
c.2841C>T (p.Pro947=)
c.2823C>T (p.Pro941=)
c.2661C>T (p.Pro887=)
c.2769C>T (p.Pro923=)
c.2751C>T (p.Pro917=)
c.2475C>T (p.Pro825=)
n.3050C>T
c.2643C>T (p.Pro881=)
c.2457C>T (p.Pro819=)
n.3053C>T
c.2748C>T (p.Pro916=)
c.2814C>T (p.Pro938=)
c.2766C>T (p.Pro922=)
c.2631C>T (p.Pro877=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835684C>ACA395408363ATXN2Lc.2821C>A (p.Gln941Lys)
c.796C>A (p.Gln266Lys)
n.3195C>A
c.16C>A (p.Gln6Lys)
c.2839C>A (p.Gln947Lys)
c.1885C>A (n.1885C>A)
c.90C>A
c.799C>A (p.Gln267Lys)
c.341C>A
c.2842C>A (p.Gln948Lys)
c.2824C>A (p.Gln942Lys)
c.2662C>A (p.Gln888Lys)
c.2770C>A (p.Gln924Lys)
c.2752C>A (p.Gln918Lys)
c.2476C>A (p.Gln826Lys)
n.3051C>A
c.2644C>A (p.Gln882Lys)
c.2458C>A (p.Gln820Lys)
n.3054C>A
c.2749C>A (p.Gln917Lys)
c.2815C>A (p.Gln939Lys)
c.2767C>A (p.Gln923Lys)
c.2632C>A (p.Gln878Lys)
16g.28835684C>GCA395408365ATXN2Lc.2821C>G (p.Gln941Glu)
c.796C>G (p.Gln266Glu)
n.3195C>G
c.16C>G (p.Gln6Glu)
c.2839C>G (p.Gln947Glu)
c.1885C>G (n.1885C>G)
c.90C>G
c.799C>G (p.Gln267Glu)
c.341C>G
c.2842C>G (p.Gln948Glu)
c.2824C>G (p.Gln942Glu)
c.2662C>G (p.Gln888Glu)
c.2770C>G (p.Gln924Glu)
c.2752C>G (p.Gln918Glu)
c.2476C>G (p.Gln826Glu)
n.3051C>G
c.2644C>G (p.Gln882Glu)
c.2458C>G (p.Gln820Glu)
n.3054C>G
c.2749C>G (p.Gln917Glu)
c.2815C>G (p.Gln939Glu)
c.2767C>G (p.Gln923Glu)
c.2632C>G (p.Gln878Glu)
16g.28835684C>TCA395408367ATXN2Lc.2821C>T (p.Gln941Ter)
c.796C>T (p.Gln266Ter)
n.3195C>T
c.16C>T (p.Gln6Ter)
c.2839C>T (p.Gln947Ter)
c.1885C>T (n.1885C>T)
c.90C>T
c.799C>T (p.Gln267Ter)
c.341C>T
c.2842C>T (p.Gln948Ter)
c.2824C>T (p.Gln942Ter)
c.2662C>T (p.Gln888Ter)
c.2770C>T (p.Gln924Ter)
c.2752C>T (p.Gln918Ter)
c.2476C>T (p.Gln826Ter)
n.3051C>T
c.2644C>T (p.Gln882Ter)
c.2458C>T (p.Gln820Ter)
n.3054C>T
c.2749C>T (p.Gln917Ter)
c.2815C>T (p.Gln939Ter)
c.2767C>T (p.Gln923Ter)
c.2632C>T (p.Gln878Ter)
16g.28835685A>CCA395408369ATXN2Lc.2822A>C (p.Gln941Pro)
c.797A>C (p.Gln266Pro)
n.3196A>C
c.17A>C (p.Gln6Pro)
c.2840A>C (p.Gln947Pro)
c.1886A>C (n.1886A>C)
c.91A>C
c.800A>C (p.Gln267Pro)
c.342A>C
c.2843A>C (p.Gln948Pro)
c.2825A>C (p.Gln942Pro)
c.2663A>C (p.Gln888Pro)
c.2771A>C (p.Gln924Pro)
c.2753A>C (p.Gln918Pro)
c.2477A>C (p.Gln826Pro)
n.3052A>C
c.2645A>C (p.Gln882Pro)
c.2459A>C (p.Gln820Pro)
n.3055A>C
c.2750A>C (p.Gln917Pro)
c.2816A>C (p.Gln939Pro)
c.2768A>C (p.Gln923Pro)
c.2633A>C (p.Gln878Pro)
16g.28835685A>GCA395408371ATXN2Lc.2822A>G (p.Gln941Arg)
c.797A>G (p.Gln266Arg)
n.3196A>G
c.17A>G (p.Gln6Arg)
c.2840A>G (p.Gln947Arg)
c.1886A>G (n.1886A>G)
c.91A>G
c.800A>G (p.Gln267Arg)
c.342A>G
c.2843A>G (p.Gln948Arg)
c.2825A>G (p.Gln942Arg)
c.2663A>G (p.Gln888Arg)
c.2771A>G (p.Gln924Arg)
c.2753A>G (p.Gln918Arg)
c.2477A>G (p.Gln826Arg)
n.3052A>G
c.2645A>G (p.Gln882Arg)
c.2459A>G (p.Gln820Arg)
n.3055A>G
c.2750A>G (p.Gln917Arg)
c.2816A>G (p.Gln939Arg)
c.2768A>G (p.Gln923Arg)
c.2633A>G (p.Gln878Arg)
16g.28835685A>TCA395408373ATXN2Lc.2822A>T (p.Gln941Leu)
c.797A>T (p.Gln266Leu)
n.3196A>T
c.17A>T (p.Gln6Leu)
c.2840A>T (p.Gln947Leu)
c.1886A>T (n.1886A>T)
c.91A>T
c.800A>T (p.Gln267Leu)
c.342A>T
c.2843A>T (p.Gln948Leu)
c.2825A>T (p.Gln942Leu)
c.2663A>T (p.Gln888Leu)
c.2771A>T (p.Gln924Leu)
c.2753A>T (p.Gln918Leu)
c.2477A>T (p.Gln826Leu)
n.3052A>T
c.2645A>T (p.Gln882Leu)
c.2459A>T (p.Gln820Leu)
n.3055A>T
c.2750A>T (p.Gln917Leu)
c.2816A>T (p.Gln939Leu)
c.2768A>T (p.Gln923Leu)
c.2633A>T (p.Gln878Leu)
16g.28835686G>ACA494869141ATXN2Lc.2823G>A (p.Gln941=)
c.798G>A (p.Gln266=)
n.3197G>A
c.18G>A (p.Gln6=)
c.2841G>A (p.Gln947=)
c.1887G>A (n.1887G>A)
c.92G>A
c.801G>A (p.Gln267=)
c.343G>A
c.2844G>A (p.Gln948=)
c.2826G>A (p.Gln942=)
c.2664G>A (p.Gln888=)
c.2772G>A (p.Gln924=)
c.2754G>A (p.Gln918=)
c.2478G>A (p.Gln826=)
n.3053G>A
c.2646G>A (p.Gln882=)
c.2460G>A (p.Gln820=)
n.3056G>A
c.2751G>A (p.Gln917=)
c.2817G>A (p.Gln939=)
c.2769G>A (p.Gln923=)
c.2634G>A (p.Gln878=)
 gnomAD v4
16g.28835686G>CCA395408377ATXN2Lc.2823G>C (p.Gln941His)
c.798G>C (p.Gln266His)
n.3197G>C
c.18G>C (p.Gln6His)
c.2841G>C (p.Gln947His)
c.1887G>C (n.1887G>C)
c.92G>C
c.801G>C (p.Gln267His)
c.343G>C
c.2844G>C (p.Gln948His)
c.2826G>C (p.Gln942His)
c.2664G>C (p.Gln888His)
c.2772G>C (p.Gln924His)
c.2754G>C (p.Gln918His)
c.2478G>C (p.Gln826His)
n.3053G>C
c.2646G>C (p.Gln882His)
c.2460G>C (p.Gln820His)
n.3056G>C
c.2751G>C (p.Gln917His)
c.2817G>C (p.Gln939His)
c.2769G>C (p.Gln923His)
c.2634G>C (p.Gln878His)
16g.28835686G>TCA395408375ATXN2Lc.2823G>T (p.Gln941His)
c.798G>T (p.Gln266His)
n.3197G>T
c.18G>T (p.Gln6His)
c.2841G>T (p.Gln947His)
c.1887G>T (n.1887G>T)
c.92G>T
c.801G>T (p.Gln267His)
c.343G>T
c.2844G>T (p.Gln948His)
c.2826G>T (p.Gln942His)
c.2664G>T (p.Gln888His)
c.2772G>T (p.Gln924His)
c.2754G>T (p.Gln918His)
c.2478G>T (p.Gln826His)
n.3053G>T
c.2646G>T (p.Gln882His)
c.2460G>T (p.Gln820His)
n.3056G>T
c.2751G>T (p.Gln917His)
c.2817G>T (p.Gln939His)
c.2769G>T (p.Gln923His)
c.2634G>T (p.Gln878His)
16g.28835687C>ACA395408379ATXN2Lc.2824C>A (p.Pro942Thr)
c.799C>A (p.Pro267Thr)
n.3198C>A
c.19C>A (p.Pro7Thr)
c.2842C>A (p.Pro948Thr)
c.1888C>A (n.1888C>A)
c.93C>A
c.802C>A (p.Pro268Thr)
c.344C>A
c.2845C>A (p.Pro949Thr)
c.2827C>A (p.Pro943Thr)
c.2665C>A (p.Pro889Thr)
c.2773C>A (p.Pro925Thr)
c.2755C>A (p.Pro919Thr)
c.2479C>A (p.Pro827Thr)
n.3054C>A
c.2647C>A (p.Pro883Thr)
c.2461C>A (p.Pro821Thr)
n.3057C>A
c.2752C>A (p.Pro918Thr)
c.2818C>A (p.Pro940Thr)
c.2770C>A (p.Pro924Thr)
c.2635C>A (p.Pro879Thr)
16g.28835687C>GCA395408381ATXN2Lc.2824C>G (p.Pro942Ala)
c.799C>G (p.Pro267Ala)
n.3198C>G
c.19C>G (p.Pro7Ala)
c.2842C>G (p.Pro948Ala)
c.1888C>G (n.1888C>G)
c.93C>G
c.802C>G (p.Pro268Ala)
c.344C>G
c.2845C>G (p.Pro949Ala)
c.2827C>G (p.Pro943Ala)
c.2665C>G (p.Pro889Ala)
c.2773C>G (p.Pro925Ala)
c.2755C>G (p.Pro919Ala)
c.2479C>G (p.Pro827Ala)
n.3054C>G
c.2647C>G (p.Pro883Ala)
c.2461C>G (p.Pro821Ala)
n.3057C>G
c.2752C>G (p.Pro918Ala)
c.2818C>G (p.Pro940Ala)
c.2770C>G (p.Pro924Ala)
c.2635C>G (p.Pro879Ala)
16g.28835687C>TCA395408382ATXN2Lc.2824C>T (p.Pro942Ser)
c.799C>T (p.Pro267Ser)
n.3198C>T
c.19C>T (p.Pro7Ser)
c.2842C>T (p.Pro948Ser)
c.1888C>T (n.1888C>T)
c.93C>T
c.802C>T (p.Pro268Ser)
c.344C>T
c.2845C>T (p.Pro949Ser)
c.2827C>T (p.Pro943Ser)
c.2665C>T (p.Pro889Ser)
c.2773C>T (p.Pro925Ser)
c.2755C>T (p.Pro919Ser)
c.2479C>T (p.Pro827Ser)
n.3054C>T
c.2647C>T (p.Pro883Ser)
c.2461C>T (p.Pro821Ser)
n.3057C>T
c.2752C>T (p.Pro918Ser)
c.2818C>T (p.Pro940Ser)
c.2770C>T (p.Pro924Ser)
c.2635C>T (p.Pro879Ser)
16g.28835688C>ACA395408386ATXN2Lc.2825C>A (p.Pro942Gln)
c.800C>A (p.Pro267Gln)
n.3199C>A
c.20C>A (p.Pro7Gln)
c.2843C>A (p.Pro948Gln)
c.1889C>A (n.1889C>A)
c.94C>A
c.803C>A (p.Pro268Gln)
c.345C>A
c.2846C>A (p.Pro949Gln)
c.2828C>A (p.Pro943Gln)
c.2666C>A (p.Pro889Gln)
c.2774C>A (p.Pro925Gln)
c.2756C>A (p.Pro919Gln)
c.2480C>A (p.Pro827Gln)
n.3055C>A
c.2648C>A (p.Pro883Gln)
c.2462C>A (p.Pro821Gln)
n.3058C>A
c.2753C>A (p.Pro918Gln)
c.2819C>A (p.Pro940Gln)
c.2771C>A (p.Pro924Gln)
c.2636C>A (p.Pro879Gln)
16g.28835688C>GCA395408387ATXN2Lc.2825C>G (p.Pro942Arg)
c.800C>G (p.Pro267Arg)
n.3199C>G
c.20C>G (p.Pro7Arg)
c.2843C>G (p.Pro948Arg)
c.1889C>G (n.1889C>G)
c.94C>G
c.803C>G (p.Pro268Arg)
c.345C>G
c.2846C>G (p.Pro949Arg)
c.2828C>G (p.Pro943Arg)
c.2666C>G (p.Pro889Arg)
c.2774C>G (p.Pro925Arg)
c.2756C>G (p.Pro919Arg)
c.2480C>G (p.Pro827Arg)
n.3055C>G
c.2648C>G (p.Pro883Arg)
c.2462C>G (p.Pro821Arg)
n.3058C>G
c.2753C>G (p.Pro918Arg)
c.2819C>G (p.Pro940Arg)
c.2771C>G (p.Pro924Arg)
c.2636C>G (p.Pro879Arg)
16g.28835688C>TCA395408388ATXN2Lc.2825C>T (p.Pro942Leu)
c.800C>T (p.Pro267Leu)
n.3199C>T
c.20C>T (p.Pro7Leu)
c.2843C>T (p.Pro948Leu)
c.1889C>T (n.1889C>T)
c.94C>T
c.803C>T (p.Pro268Leu)
c.345C>T
c.2846C>T (p.Pro949Leu)
c.2828C>T (p.Pro943Leu)
c.2666C>T (p.Pro889Leu)
c.2774C>T (p.Pro925Leu)
c.2756C>T (p.Pro919Leu)
c.2480C>T (p.Pro827Leu)
n.3055C>T
c.2648C>T (p.Pro883Leu)
c.2462C>T (p.Pro821Leu)
n.3058C>T
c.2753C>T (p.Pro918Leu)
c.2819C>T (p.Pro940Leu)
c.2771C>T (p.Pro924Leu)
c.2636C>T (p.Pro879Leu)
16g.28835689A>CCA494869166ATXN2Lc.2826A>C (p.Pro942=)
c.801A>C (p.Pro267=)
n.3200A>C
c.21A>C (p.Pro7=)
c.2844A>C (p.Pro948=)
c.1890A>C (n.1890A>C)
c.95A>C
c.804A>C (p.Pro268=)
c.346A>C
c.2847A>C (p.Pro949=)
c.2829A>C (p.Pro943=)
c.2667A>C (p.Pro889=)
c.2775A>C (p.Pro925=)
c.2757A>C (p.Pro919=)
c.2481A>C (p.Pro827=)
n.3056A>C
c.2649A>C (p.Pro883=)
c.2463A>C (p.Pro821=)
n.3059A>C
c.2754A>C (p.Pro918=)
c.2820A>C (p.Pro940=)
c.2772A>C (p.Pro924=)
c.2637A>C (p.Pro879=)
16g.28835689A>GCA494869170ATXN2Lc.2826A>G (p.Pro942=)
c.801A>G (p.Pro267=)
n.3200A>G
c.21A>G (p.Pro7=)
c.2844A>G (p.Pro948=)
c.1890A>G (n.1890A>G)
c.95A>G
c.804A>G (p.Pro268=)
c.346A>G
c.2847A>G (p.Pro949=)
c.2829A>G (p.Pro943=)
c.2667A>G (p.Pro889=)
c.2775A>G (p.Pro925=)
c.2757A>G (p.Pro919=)
c.2481A>G (p.Pro827=)
n.3056A>G
c.2649A>G (p.Pro883=)
c.2463A>G (p.Pro821=)
n.3059A>G
c.2754A>G (p.Pro918=)
c.2820A>G (p.Pro940=)
c.2772A>G (p.Pro924=)
c.2637A>G (p.Pro879=)
16g.28835689A>TCA494869171ATXN2Lc.2826A>T (p.Pro942=)
c.801A>T (p.Pro267=)
n.3200A>T
c.21A>T (p.Pro7=)
c.2844A>T (p.Pro948=)
c.1890A>T (n.1890A>T)
c.95A>T
c.804A>T (p.Pro268=)
c.346A>T
c.2847A>T (p.Pro949=)
c.2829A>T (p.Pro943=)
c.2667A>T (p.Pro889=)
c.2775A>T (p.Pro925=)
c.2757A>T (p.Pro919=)
c.2481A>T (p.Pro827=)
n.3056A>T
c.2649A>T (p.Pro883=)
c.2463A>T (p.Pro821=)
n.3059A>T
c.2754A>T (p.Pro918=)
c.2820A>T (p.Pro940=)
c.2772A>T (p.Pro924=)
c.2637A>T (p.Pro879=)
16g.28835690G>ACA395408391ATXN2Lc.2827G>A (p.Ala943Thr)
c.802G>A (p.Ala268Thr)
n.3201G>A
c.22G>A (p.Ala8Thr)
c.2845G>A (p.Ala949Thr)
c.1891G>A (n.1891G>A)
c.96G>A
c.805G>A (p.Ala269Thr)
c.347G>A
c.2848G>A (p.Ala950Thr)
c.2830G>A (p.Ala944Thr)
c.2668G>A (p.Ala890Thr)
c.2776G>A (p.Ala926Thr)
c.2758G>A (p.Ala920Thr)
c.2482G>A (p.Ala828Thr)
n.3057G>A
c.2650G>A (p.Ala884Thr)
c.2464G>A (p.Ala822Thr)
n.3060G>A
c.2755G>A (p.Ala919Thr)
c.2821G>A (p.Ala941Thr)
c.2773G>A (p.Ala925Thr)
c.2638G>A (p.Ala880Thr)
16g.28835690G>CCA395408395ATXN2Lc.2827G>C (p.Ala943Pro)
c.802G>C (p.Ala268Pro)
n.3201G>C
c.22G>C (p.Ala8Pro)
c.2845G>C (p.Ala949Pro)
c.1891G>C (n.1891G>C)
c.96G>C
c.805G>C (p.Ala269Pro)
c.347G>C
c.2848G>C (p.Ala950Pro)
c.2830G>C (p.Ala944Pro)
c.2668G>C (p.Ala890Pro)
c.2776G>C (p.Ala926Pro)
c.2758G>C (p.Ala920Pro)
c.2482G>C (p.Ala828Pro)
n.3057G>C
c.2650G>C (p.Ala884Pro)
c.2464G>C (p.Ala822Pro)
n.3060G>C
c.2755G>C (p.Ala919Pro)
c.2821G>C (p.Ala941Pro)
c.2773G>C (p.Ala925Pro)
c.2638G>C (p.Ala880Pro)
16g.28835690G>TCA395408393ATXN2Lc.2827G>T (p.Ala943Ser)
c.802G>T (p.Ala268Ser)
n.3201G>T
c.22G>T (p.Ala8Ser)
c.2845G>T (p.Ala949Ser)
c.1891G>T (n.1891G>T)
c.96G>T
c.805G>T (p.Ala269Ser)
c.347G>T
c.2848G>T (p.Ala950Ser)
c.2830G>T (p.Ala944Ser)
c.2668G>T (p.Ala890Ser)
c.2776G>T (p.Ala926Ser)
c.2758G>T (p.Ala920Ser)
c.2482G>T (p.Ala828Ser)
n.3057G>T
c.2650G>T (p.Ala884Ser)
c.2464G>T (p.Ala822Ser)
n.3060G>T
c.2755G>T (p.Ala919Ser)
c.2821G>T (p.Ala941Ser)
c.2773G>T (p.Ala925Ser)
c.2638G>T (p.Ala880Ser)
16g.28835691C>ACA395408397ATXN2Lc.2828C>A (p.Ala943Asp)
c.803C>A (p.Ala268Asp)
n.3202C>A
c.23C>A (p.Ala8Asp)
c.2846C>A (p.Ala949Asp)
c.1892C>A (n.1892C>A)
c.97C>A
c.806C>A (p.Ala269Asp)
c.348C>A
c.2849C>A (p.Ala950Asp)
c.2831C>A (p.Ala944Asp)
c.2669C>A (p.Ala890Asp)
c.2777C>A (p.Ala926Asp)
c.2759C>A (p.Ala920Asp)
c.2483C>A (p.Ala828Asp)
n.3058C>A
c.2651C>A (p.Ala884Asp)
c.2465C>A (p.Ala822Asp)
n.3061C>A
c.2756C>A (p.Ala919Asp)
c.2822C>A (p.Ala941Asp)
c.2774C>A (p.Ala925Asp)
c.2639C>A (p.Ala880Asp)
16g.28835691C>GCA395408399ATXN2Lc.2828C>G (p.Ala943Gly)
c.803C>G (p.Ala268Gly)
n.3202C>G
c.23C>G (p.Ala8Gly)
c.2846C>G (p.Ala949Gly)
c.1892C>G (n.1892C>G)
c.97C>G
c.806C>G (p.Ala269Gly)
c.348C>G
c.2849C>G (p.Ala950Gly)
c.2831C>G (p.Ala944Gly)
c.2669C>G (p.Ala890Gly)
c.2777C>G (p.Ala926Gly)
c.2759C>G (p.Ala920Gly)
c.2483C>G (p.Ala828Gly)
n.3058C>G
c.2651C>G (p.Ala884Gly)
c.2465C>G (p.Ala822Gly)
n.3061C>G
c.2756C>G (p.Ala919Gly)
c.2822C>G (p.Ala941Gly)
c.2774C>G (p.Ala925Gly)
c.2639C>G (p.Ala880Gly)
16g.28835691C>TCA395408401ATXN2Lc.2828C>T (p.Ala943Val)
c.803C>T (p.Ala268Val)
n.3202C>T
c.23C>T (p.Ala8Val)
c.2846C>T (p.Ala949Val)
c.1892C>T (n.1892C>T)
c.97C>T
c.806C>T (p.Ala269Val)
c.348C>T
c.2849C>T (p.Ala950Val)
c.2831C>T (p.Ala944Val)
c.2669C>T (p.Ala890Val)
c.2777C>T (p.Ala926Val)
c.2759C>T (p.Ala920Val)
c.2483C>T (p.Ala828Val)
n.3058C>T
c.2651C>T (p.Ala884Val)
c.2465C>T (p.Ala822Val)
n.3061C>T
c.2756C>T (p.Ala919Val)
c.2822C>T (p.Ala941Val)
c.2774C>T (p.Ala925Val)
c.2639C>T (p.Ala880Val)
16g.28835692C>ACA494869183ATXN2Lc.2829C>A (p.Ala943=)
c.804C>A (p.Ala268=)
n.3203C>A
c.24C>A (p.Ala8=)
c.2847C>A (p.Ala949=)
c.1893C>A (n.1893C>A)
c.98C>A
c.807C>A (p.Ala269=)
c.349C>A
c.2850C>A (p.Ala950=)
c.2832C>A (p.Ala944=)
c.2670C>A (p.Ala890=)
c.2778C>A (p.Ala926=)
c.2760C>A (p.Ala920=)
c.2484C>A (p.Ala828=)
n.3059C>A
c.2652C>A (p.Ala884=)
c.2466C>A (p.Ala822=)
n.3062C>A
c.2757C>A (p.Ala919=)
c.2823C>A (p.Ala941=)
c.2775C>A (p.Ala925=)
c.2640C>A (p.Ala880=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835692C=CA2215806428ATXN2Lc.2829C= (p.Ala943=)
c.804C= (p.Ala268=)
n.3203C=
c.24C= (p.Ala8=)
c.2847C= (p.Ala949=)
c.1893C= (n.1893C=)
c.98C=
c.807C= (p.Ala269=)
c.349C=
c.2850C= (p.Ala950=)
c.2832C= (p.Ala944=)
c.2670C= (p.Ala890=)
c.2778C= (p.Ala926=)
c.2760C= (p.Ala920=)
c.2484C= (p.Ala828=)
n.3059C=
c.2652C= (p.Ala884=)
c.2466C= (p.Ala822=)
n.3062C=
c.2757C= (p.Ala919=)
c.2823C= (p.Ala941=)
c.2775C= (p.Ala925=)
c.2640C= (p.Ala880=)
16g.28835692C>GCA494869188ATXN2Lc.2829C>G (p.Ala943=)
c.804C>G (p.Ala268=)
n.3203C>G
c.24C>G (p.Ala8=)
c.2847C>G (p.Ala949=)
c.1893C>G (n.1893C>G)
c.98C>G
c.807C>G (p.Ala269=)
c.349C>G
c.2850C>G (p.Ala950=)
c.2832C>G (p.Ala944=)
c.2670C>G (p.Ala890=)
c.2778C>G (p.Ala926=)
c.2760C>G (p.Ala920=)
c.2484C>G (p.Ala828=)
n.3059C>G
c.2652C>G (p.Ala884=)
c.2466C>G (p.Ala822=)
n.3062C>G
c.2757C>G (p.Ala919=)
c.2823C>G (p.Ala941=)
c.2775C>G (p.Ala925=)
c.2640C>G (p.Ala880=)
16g.28835692C>TCA7985099ATXN2Lc.2829C>T (p.Ala943=)
c.804C>T (p.Ala268=)
n.3203C>T
c.24C>T (p.Ala8=)
c.2847C>T (p.Ala949=)
c.1893C>T (n.1893C>T)
c.98C>T
c.807C>T (p.Ala269=)
c.349C>T
c.2850C>T (p.Ala950=)
c.2832C>T (p.Ala944=)
c.2670C>T (p.Ala890=)
c.2778C>T (p.Ala926=)
c.2760C>T (p.Ala920=)
c.2484C>T (p.Ala828=)
n.3059C>T
c.2652C>T (p.Ala884=)
c.2466C>T (p.Ala822=)
n.3062C>T
c.2757C>T (p.Ala919=)
c.2823C>T (p.Ala941=)
c.2775C>T (p.Ala925=)
c.2640C>T (p.Ala880=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835693G>ACA7985100ATXN2Lc.2830G>A (p.Ala944Thr)
c.805G>A (p.Ala269Thr)
n.3204G>A
c.25G>A (p.Ala9Thr)
c.2848G>A (p.Ala950Thr)
c.1894G>A (n.1894G>A)
c.99G>A
c.808G>A (p.Ala270Thr)
c.350G>A
c.2851G>A (p.Ala951Thr)
c.2833G>A (p.Ala945Thr)
c.2671G>A (p.Ala891Thr)
c.2779G>A (p.Ala927Thr)
c.2761G>A (p.Ala921Thr)
c.2485G>A (p.Ala829Thr)
n.3060G>A
c.2653G>A (p.Ala885Thr)
c.2467G>A (p.Ala823Thr)
n.3063G>A
c.2758G>A (p.Ala920Thr)
c.2824G>A (p.Ala942Thr)
c.2776G>A (p.Ala926Thr)
c.2641G>A (p.Ala881Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835693G>CCA395408405ATXN2Lc.2830G>C (p.Ala944Pro)
c.805G>C (p.Ala269Pro)
n.3204G>C
c.25G>C (p.Ala9Pro)
c.2848G>C (p.Ala950Pro)
c.1894G>C (n.1894G>C)
c.99G>C
c.808G>C (p.Ala270Pro)
c.350G>C
c.2851G>C (p.Ala951Pro)
c.2833G>C (p.Ala945Pro)
c.2671G>C (p.Ala891Pro)
c.2779G>C (p.Ala927Pro)
c.2761G>C (p.Ala921Pro)
c.2485G>C (p.Ala829Pro)
n.3060G>C
c.2653G>C (p.Ala885Pro)
c.2467G>C (p.Ala823Pro)
n.3063G>C
c.2758G>C (p.Ala920Pro)
c.2824G>C (p.Ala942Pro)
c.2776G>C (p.Ala926Pro)
c.2641G>C (p.Ala881Pro)
16g.28835693G=CA2215806430ATXN2Lc.2830G= (p.Ala944=)
c.805G= (p.Ala269=)
n.3204G=
c.25G= (p.Ala9=)
c.2848G= (p.Ala950=)
c.1894G= (n.1894G=)
c.99G=
c.808G= (p.Ala270=)
c.350G=
c.2851G= (p.Ala951=)
c.2833G= (p.Ala945=)
c.2671G= (p.Ala891=)
c.2779G= (p.Ala927=)
c.2761G= (p.Ala921=)
c.2485G= (p.Ala829=)
n.3060G=
c.2653G= (p.Ala885=)
c.2467G= (p.Ala823=)
n.3063G=
c.2758G= (p.Ala920=)
c.2824G= (p.Ala942=)
c.2776G= (p.Ala926=)
c.2641G= (p.Ala881=)
16g.28835693G>TCA395408407ATXN2Lc.2830G>T (p.Ala944Ser)
c.805G>T (p.Ala269Ser)
n.3204G>T
c.25G>T (p.Ala9Ser)
c.2848G>T (p.Ala950Ser)
c.1894G>T (n.1894G>T)
c.99G>T
c.808G>T (p.Ala270Ser)
c.350G>T
c.2851G>T (p.Ala951Ser)
c.2833G>T (p.Ala945Ser)
c.2671G>T (p.Ala891Ser)
c.2779G>T (p.Ala927Ser)
c.2761G>T (p.Ala921Ser)
c.2485G>T (p.Ala829Ser)
n.3060G>T
c.2653G>T (p.Ala885Ser)
c.2467G>T (p.Ala823Ser)
n.3063G>T
c.2758G>T (p.Ala920Ser)
c.2824G>T (p.Ala942Ser)
c.2776G>T (p.Ala926Ser)
c.2641G>T (p.Ala881Ser)
16g.28835694C>ACA395408409ATXN2Lc.2831C>A (p.Ala944Asp)
c.806C>A (p.Ala269Asp)
n.3205C>A
c.26C>A (p.Ala9Asp)
c.2849C>A (p.Ala950Asp)
c.1895C>A (n.1895C>A)
c.100C>A
c.809C>A (p.Ala270Asp)
c.351C>A
c.2852C>A (p.Ala951Asp)
c.2834C>A (p.Ala945Asp)
c.2672C>A (p.Ala891Asp)
c.2780C>A (p.Ala927Asp)
c.2762C>A (p.Ala921Asp)
c.2486C>A (p.Ala829Asp)
n.3061C>A
c.2654C>A (p.Ala885Asp)
c.2468C>A (p.Ala823Asp)
n.3064C>A
c.2759C>A (p.Ala920Asp)
c.2825C>A (p.Ala942Asp)
c.2777C>A (p.Ala926Asp)
c.2642C>A (p.Ala881Asp)
16g.28835694C>GCA395408411ATXN2Lc.2831C>G (p.Ala944Gly)
c.806C>G (p.Ala269Gly)
n.3205C>G
c.26C>G (p.Ala9Gly)
c.2849C>G (p.Ala950Gly)
c.1895C>G (n.1895C>G)
c.100C>G
c.809C>G (p.Ala270Gly)
c.351C>G
c.2852C>G (p.Ala951Gly)
c.2834C>G (p.Ala945Gly)
c.2672C>G (p.Ala891Gly)
c.2780C>G (p.Ala927Gly)
c.2762C>G (p.Ala921Gly)
c.2486C>G (p.Ala829Gly)
n.3061C>G
c.2654C>G (p.Ala885Gly)
c.2468C>G (p.Ala823Gly)
n.3064C>G
c.2759C>G (p.Ala920Gly)
c.2825C>G (p.Ala942Gly)
c.2777C>G (p.Ala926Gly)
c.2642C>G (p.Ala881Gly)
16g.28835694C>TCA395408413ATXN2Lc.2831C>T (p.Ala944Val)
c.806C>T (p.Ala269Val)
n.3205C>T
c.26C>T (p.Ala9Val)
c.2849C>T (p.Ala950Val)
c.1895C>T (n.1895C>T)
c.100C>T
c.809C>T (p.Ala270Val)
c.351C>T
c.2852C>T (p.Ala951Val)
c.2834C>T (p.Ala945Val)
c.2672C>T (p.Ala891Val)
c.2780C>T (p.Ala927Val)
c.2762C>T (p.Ala921Val)
c.2486C>T (p.Ala829Val)
n.3061C>T
c.2654C>T (p.Ala885Val)
c.2468C>T (p.Ala823Val)
n.3064C>T
c.2759C>T (p.Ala920Val)
c.2825C>T (p.Ala942Val)
c.2777C>T (p.Ala926Val)
c.2642C>T (p.Ala881Val)
16g.28835695T>ACA494869213ATXN2Lc.2832T>A (p.Ala944=)
c.807T>A (p.Ala269=)
n.3206T>A
c.27T>A (p.Ala9=)
c.2850T>A (p.Ala950=)
c.1896T>A (n.1896T>A)
c.101T>A
c.810T>A (p.Ala270=)
c.352T>A
c.2853T>A (p.Ala951=)
c.2835T>A (p.Ala945=)
c.2673T>A (p.Ala891=)
c.2781T>A (p.Ala927=)
c.2763T>A (p.Ala921=)
c.2487T>A (p.Ala829=)
n.3062T>A
c.2655T>A (p.Ala885=)
c.2469T>A (p.Ala823=)
n.3065T>A
c.2760T>A (p.Ala920=)
c.2826T>A (p.Ala942=)
c.2778T>A (p.Ala926=)
c.2643T>A (p.Ala881=)
16g.28835695T>CCA494869217ATXN2Lc.2832T>C (p.Ala944=)
c.807T>C (p.Ala269=)
n.3206T>C
c.27T>C (p.Ala9=)
c.2850T>C (p.Ala950=)
c.1896T>C (n.1896T>C)
c.101T>C
c.810T>C (p.Ala270=)
c.352T>C
c.2853T>C (p.Ala951=)
c.2835T>C (p.Ala945=)
c.2673T>C (p.Ala891=)
c.2781T>C (p.Ala927=)
c.2763T>C (p.Ala921=)
c.2487T>C (p.Ala829=)
n.3062T>C
c.2655T>C (p.Ala885=)
c.2469T>C (p.Ala823=)
n.3065T>C
c.2760T>C (p.Ala920=)
c.2826T>C (p.Ala942=)
c.2778T>C (p.Ala926=)
c.2643T>C (p.Ala881=)
 dbSNP gnomAD v4
16g.28835695T>GCA494869221ATXN2Lc.2832T>G (p.Ala944=)
c.807T>G (p.Ala269=)
n.3206T>G
c.27T>G (p.Ala9=)
c.2850T>G (p.Ala950=)
c.1896T>G (n.1896T>G)
c.101T>G
c.810T>G (p.Ala270=)
c.352T>G
c.2853T>G (p.Ala951=)
c.2835T>G (p.Ala945=)
c.2673T>G (p.Ala891=)
c.2781T>G (p.Ala927=)
c.2763T>G (p.Ala921=)
c.2487T>G (p.Ala829=)
n.3062T>G
c.2655T>G (p.Ala885=)
c.2469T>G (p.Ala823=)
n.3065T>G
c.2760T>G (p.Ala920=)
c.2826T>G (p.Ala942=)
c.2778T>G (p.Ala926=)
c.2643T>G (p.Ala881=)
16g.28835695T=CA2215806432ATXN2Lc.2832T= (p.Ala944=)
c.807T= (p.Ala269=)
n.3206T=
c.27T= (p.Ala9=)
c.2850T= (p.Ala950=)
c.1896T= (n.1896T=)
c.101T=
c.810T= (p.Ala270=)
c.352T=
c.2853T= (p.Ala951=)
c.2835T= (p.Ala945=)
c.2673T= (p.Ala891=)
c.2781T= (p.Ala927=)
c.2763T= (p.Ala921=)
c.2487T= (p.Ala829=)
n.3062T=
c.2655T= (p.Ala885=)
c.2469T= (p.Ala823=)
n.3065T=
c.2760T= (p.Ala920=)
c.2826T= (p.Ala942=)
c.2778T= (p.Ala926=)
c.2643T= (p.Ala881=)
16g.28835696G>ACA395408415ATXN2Lc.2833G>A (p.Val945Met)
c.808G>A (p.Val270Met)
n.3207G>A
c.28G>A (p.Val10Met)
c.2851G>A (p.Val951Met)
c.1897G>A (n.1897G>A)
c.102G>A
c.811G>A (p.Val271Met)
c.353G>A
c.2854G>A (p.Val952Met)
c.2836G>A (p.Val946Met)
c.2674G>A (p.Val892Met)
c.2782G>A (p.Val928Met)
c.2764G>A (p.Val922Met)
c.2488G>A (p.Val830Met)
n.3063G>A
c.2656G>A (p.Val886Met)
c.2470G>A (p.Val824Met)
n.3066G>A
c.2761G>A (p.Val921Met)
c.2827G>A (p.Val943Met)
c.2779G>A (p.Val927Met)
c.2644G>A (p.Val882Met)
16g.28835696G>CCA395408417ATXN2Lc.2833G>C (p.Val945Leu)
c.808G>C (p.Val270Leu)
n.3207G>C
c.28G>C (p.Val10Leu)
c.2851G>C (p.Val951Leu)
c.1897G>C (n.1897G>C)
c.102G>C
c.811G>C (p.Val271Leu)
c.353G>C
c.2854G>C (p.Val952Leu)
c.2836G>C (p.Val946Leu)
c.2674G>C (p.Val892Leu)
c.2782G>C (p.Val928Leu)
c.2764G>C (p.Val922Leu)
c.2488G>C (p.Val830Leu)
n.3063G>C
c.2656G>C (p.Val886Leu)
c.2470G>C (p.Val824Leu)
n.3066G>C
c.2761G>C (p.Val921Leu)
c.2827G>C (p.Val943Leu)
c.2779G>C (p.Val927Leu)
c.2644G>C (p.Val882Leu)
16g.28835696G>TCA395408419ATXN2Lc.2833G>T (p.Val945Leu)
c.808G>T (p.Val270Leu)
n.3207G>T
c.28G>T (p.Val10Leu)
c.2851G>T (p.Val951Leu)
c.1897G>T (n.1897G>T)
c.102G>T
c.811G>T (p.Val271Leu)
c.353G>T
c.2854G>T (p.Val952Leu)
c.2836G>T (p.Val946Leu)
c.2674G>T (p.Val892Leu)
c.2782G>T (p.Val928Leu)
c.2764G>T (p.Val922Leu)
c.2488G>T (p.Val830Leu)
n.3063G>T
c.2656G>T (p.Val886Leu)
c.2470G>T (p.Val824Leu)
n.3066G>T
c.2761G>T (p.Val921Leu)
c.2827G>T (p.Val943Leu)
c.2779G>T (p.Val927Leu)
c.2644G>T (p.Val882Leu)
16g.28835697T>ACA395408424ATXN2Lc.2834T>A (p.Val945Glu)
c.809T>A (p.Val270Glu)
n.3208T>A
c.29T>A (p.Val10Glu)
c.2852T>A (p.Val951Glu)
c.1898T>A (n.1898T>A)
c.103T>A
c.812T>A (p.Val271Glu)
c.354T>A
c.2855T>A (p.Val952Glu)
c.2837T>A (p.Val946Glu)
c.2675T>A (p.Val892Glu)
c.2783T>A (p.Val928Glu)
c.2765T>A (p.Val922Glu)
c.2489T>A (p.Val830Glu)
n.3064T>A
c.2657T>A (p.Val886Glu)
c.2471T>A (p.Val824Glu)
n.3067T>A
c.2762T>A (p.Val921Glu)
c.2828T>A (p.Val943Glu)
c.2780T>A (p.Val927Glu)
c.2645T>A (p.Val882Glu)
16g.28835697T>CCA395408421ATXN2Lc.2834T>C (p.Val945Ala)
c.809T>C (p.Val270Ala)
n.3208T>C
c.29T>C (p.Val10Ala)
c.2852T>C (p.Val951Ala)
c.1898T>C (n.1898T>C)
c.103T>C
c.812T>C (p.Val271Ala)
c.354T>C
c.2855T>C (p.Val952Ala)
c.2837T>C (p.Val946Ala)
c.2675T>C (p.Val892Ala)
c.2783T>C (p.Val928Ala)
c.2765T>C (p.Val922Ala)
c.2489T>C (p.Val830Ala)
n.3064T>C
c.2657T>C (p.Val886Ala)
c.2471T>C (p.Val824Ala)
n.3067T>C
c.2762T>C (p.Val921Ala)
c.2828T>C (p.Val943Ala)
c.2780T>C (p.Val927Ala)
c.2645T>C (p.Val882Ala)
16g.28835697T>GCA395408423ATXN2Lc.2834T>G (p.Val945Gly)
c.809T>G (p.Val270Gly)
n.3208T>G
c.29T>G (p.Val10Gly)
c.2852T>G (p.Val951Gly)
c.1898T>G (n.1898T>G)
c.103T>G
c.812T>G (p.Val271Gly)
c.354T>G
c.2855T>G (p.Val952Gly)
c.2837T>G (p.Val946Gly)
c.2675T>G (p.Val892Gly)
c.2783T>G (p.Val928Gly)
c.2765T>G (p.Val922Gly)
c.2489T>G (p.Val830Gly)
n.3064T>G
c.2657T>G (p.Val886Gly)
c.2471T>G (p.Val824Gly)
n.3067T>G
c.2762T>G (p.Val921Gly)
c.2828T>G (p.Val943Gly)
c.2780T>G (p.Val927Gly)
c.2645T>G (p.Val882Gly)
16g.28835698G>ACA494869242ATXN2Lc.2835G>A (p.Val945=)
c.810G>A (p.Val270=)
n.3209G>A
c.30G>A (p.Val10=)
c.2853G>A (p.Val951=)
c.1899G>A (n.1899G>A)
c.104G>A
c.813G>A (p.Val271=)
c.355G>A
c.2856G>A (p.Val952=)
c.2838G>A (p.Val946=)
c.2676G>A (p.Val892=)
c.2784G>A (p.Val928=)
c.2766G>A (p.Val922=)
c.2490G>A (p.Val830=)
n.3065G>A
c.2658G>A (p.Val886=)
c.2472G>A (p.Val824=)
n.3068G>A
c.2763G>A (p.Val921=)
c.2829G>A (p.Val943=)
c.2781G>A (p.Val927=)
c.2646G>A (p.Val882=)
16g.28835698G>CCA494869245ATXN2Lc.2835G>C (p.Val945=)
c.810G>C (p.Val270=)
n.3209G>C
c.30G>C (p.Val10=)
c.2853G>C (p.Val951=)
c.1899G>C (n.1899G>C)
c.104G>C
c.813G>C (p.Val271=)
c.355G>C
c.2856G>C (p.Val952=)
c.2838G>C (p.Val946=)
c.2676G>C (p.Val892=)
c.2784G>C (p.Val928=)
c.2766G>C (p.Val922=)
c.2490G>C (p.Val830=)
n.3065G>C
c.2658G>C (p.Val886=)
c.2472G>C (p.Val824=)
n.3068G>C
c.2763G>C (p.Val921=)
c.2829G>C (p.Val943=)
c.2781G>C (p.Val927=)
c.2646G>C (p.Val882=)
16g.28835698G>TCA494869250ATXN2Lc.2835G>T (p.Val945=)
c.810G>T (p.Val270=)
n.3209G>T
c.30G>T (p.Val10=)
c.2853G>T (p.Val951=)
c.1899G>T (n.1899G>T)
c.104G>T
c.813G>T (p.Val271=)
c.355G>T
c.2856G>T (p.Val952=)
c.2838G>T (p.Val946=)
c.2676G>T (p.Val892=)
c.2784G>T (p.Val928=)
c.2766G>T (p.Val922=)
c.2490G>T (p.Val830=)
n.3065G>T
c.2658G>T (p.Val886=)
c.2472G>T (p.Val824=)
n.3068G>T
c.2763G>T (p.Val921=)
c.2829G>T (p.Val943=)
c.2781G>T (p.Val927=)
c.2646G>T (p.Val882=)
16g.28835699T>ACA395408427ATXN2Lc.2836T>A (p.Tyr946Asn)
c.811T>A (p.Tyr271Asn)
n.3210T>A
c.31T>A (p.Tyr11Asn)
c.2854T>A (p.Tyr952Asn)
c.1900T>A (n.1900T>A)
c.105T>A
c.814T>A (p.Tyr272Asn)
c.356T>A
c.2857T>A (p.Tyr953Asn)
c.2839T>A (p.Tyr947Asn)
c.2677T>A (p.Tyr893Asn)
c.2785T>A (p.Tyr929Asn)
c.2767T>A (p.Tyr923Asn)
c.2491T>A (p.Tyr831Asn)
n.3066T>A
c.2659T>A (p.Tyr887Asn)
c.2473T>A (p.Tyr825Asn)
n.3069T>A
c.2764T>A (p.Tyr922Asn)
c.2830T>A (p.Tyr944Asn)
c.2782T>A (p.Tyr928Asn)
c.2647T>A (p.Tyr883Asn)
16g.28835699T>CCA395408429ATXN2Lc.2836T>C (p.Tyr946His)
c.811T>C (p.Tyr271His)
n.3210T>C
c.31T>C (p.Tyr11His)
c.2854T>C (p.Tyr952His)
c.1900T>C (n.1900T>C)
c.105T>C
c.814T>C (p.Tyr272His)
c.356T>C
c.2857T>C (p.Tyr953His)
c.2839T>C (p.Tyr947His)
c.2677T>C (p.Tyr893His)
c.2785T>C (p.Tyr929His)
c.2767T>C (p.Tyr923His)
c.2491T>C (p.Tyr831His)
n.3066T>C
c.2659T>C (p.Tyr887His)
c.2473T>C (p.Tyr825His)
n.3069T>C
c.2764T>C (p.Tyr922His)
c.2830T>C (p.Tyr944His)
c.2782T>C (p.Tyr928His)
c.2647T>C (p.Tyr883His)
16g.28835699T>GCA395408431ATXN2Lc.2836T>G (p.Tyr946Asp)
c.811T>G (p.Tyr271Asp)
n.3210T>G
c.31T>G (p.Tyr11Asp)
c.2854T>G (p.Tyr952Asp)
c.1900T>G (n.1900T>G)
c.105T>G
c.814T>G (p.Tyr272Asp)
c.356T>G
c.2857T>G (p.Tyr953Asp)
c.2839T>G (p.Tyr947Asp)
c.2677T>G (p.Tyr893Asp)
c.2785T>G (p.Tyr929Asp)
c.2767T>G (p.Tyr923Asp)
c.2491T>G (p.Tyr831Asp)
n.3066T>G
c.2659T>G (p.Tyr887Asp)
c.2473T>G (p.Tyr825Asp)
n.3069T>G
c.2764T>G (p.Tyr922Asp)
c.2830T>G (p.Tyr944Asp)
c.2782T>G (p.Tyr928Asp)
c.2647T>G (p.Tyr883Asp)
16g.28835700A>CCA395408433ATXN2Lc.2837A>C (p.Tyr946Ser)
c.812A>C (p.Tyr271Ser)
n.3211A>C
c.32A>C (p.Tyr11Ser)
c.2855A>C (p.Tyr952Ser)
c.1901A>C (n.1901A>C)
c.106A>C
c.815A>C (p.Tyr272Ser)
c.357A>C
c.2858A>C (p.Tyr953Ser)
c.2840A>C (p.Tyr947Ser)
c.2678A>C (p.Tyr893Ser)
c.2786A>C (p.Tyr929Ser)
c.2768A>C (p.Tyr923Ser)
c.2492A>C (p.Tyr831Ser)
n.3067A>C
c.2660A>C (p.Tyr887Ser)
c.2474A>C (p.Tyr825Ser)
n.3070A>C
c.2765A>C (p.Tyr922Ser)
c.2831A>C (p.Tyr944Ser)
c.2783A>C (p.Tyr928Ser)
c.2648A>C (p.Tyr883Ser)
16g.28835700A>GCA395408435ATXN2Lc.2837A>G (p.Tyr946Cys)
c.812A>G (p.Tyr271Cys)
n.3211A>G
c.32A>G (p.Tyr11Cys)
c.2855A>G (p.Tyr952Cys)
c.1901A>G (n.1901A>G)
c.106A>G
c.815A>G (p.Tyr272Cys)
c.357A>G
c.2858A>G (p.Tyr953Cys)
c.2840A>G (p.Tyr947Cys)
c.2678A>G (p.Tyr893Cys)
c.2786A>G (p.Tyr929Cys)
c.2768A>G (p.Tyr923Cys)
c.2492A>G (p.Tyr831Cys)
n.3067A>G
c.2660A>G (p.Tyr887Cys)
c.2474A>G (p.Tyr825Cys)
n.3070A>G
c.2765A>G (p.Tyr922Cys)
c.2831A>G (p.Tyr944Cys)
c.2783A>G (p.Tyr928Cys)
c.2648A>G (p.Tyr883Cys)
16g.28835700A>TCA395408436ATXN2Lc.2837A>T (p.Tyr946Phe)
c.812A>T (p.Tyr271Phe)
n.3211A>T
c.32A>T (p.Tyr11Phe)
c.2855A>T (p.Tyr952Phe)
c.1901A>T (n.1901A>T)
c.106A>T
c.815A>T (p.Tyr272Phe)
c.357A>T
c.2858A>T (p.Tyr953Phe)
c.2840A>T (p.Tyr947Phe)
c.2678A>T (p.Tyr893Phe)
c.2786A>T (p.Tyr929Phe)
c.2768A>T (p.Tyr923Phe)
c.2492A>T (p.Tyr831Phe)
n.3067A>T
c.2660A>T (p.Tyr887Phe)
c.2474A>T (p.Tyr825Phe)
n.3070A>T
c.2765A>T (p.Tyr922Phe)
c.2831A>T (p.Tyr944Phe)
c.2783A>T (p.Tyr928Phe)
c.2648A>T (p.Tyr883Phe)
 gnomAD v4
16g.28835701T>ACA395408439ATXN2Lc.2838T>A (p.Tyr946Ter)
c.813T>A (p.Tyr271Ter)
n.3212T>A
c.33T>A (p.Tyr11Ter)
c.2856T>A (p.Tyr952Ter)
c.1902T>A (n.1902T>A)
c.107T>A
c.816T>A (p.Tyr272Ter)
c.358T>A
c.2859T>A (p.Tyr953Ter)
c.2841T>A (p.Tyr947Ter)
c.2679T>A (p.Tyr893Ter)
c.2787T>A (p.Tyr929Ter)
c.2769T>A (p.Tyr923Ter)
c.2493T>A (p.Tyr831Ter)
n.3068T>A
c.2661T>A (p.Tyr887Ter)
c.2475T>A (p.Tyr825Ter)
n.3071T>A
c.2766T>A (p.Tyr922Ter)
c.2832T>A (p.Tyr944Ter)
c.2784T>A (p.Tyr928Ter)
c.2649T>A (p.Tyr883Ter)
16g.28835701T>CCA494869273ATXN2Lc.2838T>C (p.Tyr946=)
c.813T>C (p.Tyr271=)
n.3212T>C
c.33T>C (p.Tyr11=)
c.2856T>C (p.Tyr952=)
c.1902T>C (n.1902T>C)
c.107T>C
c.816T>C (p.Tyr272=)
c.358T>C
c.2859T>C (p.Tyr953=)
c.2841T>C (p.Tyr947=)
c.2679T>C (p.Tyr893=)
c.2787T>C (p.Tyr929=)
c.2769T>C (p.Tyr923=)
c.2493T>C (p.Tyr831=)
n.3068T>C
c.2661T>C (p.Tyr887=)
c.2475T>C (p.Tyr825=)
n.3071T>C
c.2766T>C (p.Tyr922=)
c.2832T>C (p.Tyr944=)
c.2784T>C (p.Tyr928=)
c.2649T>C (p.Tyr883=)
 dbSNP gnomAD v3 gnomAD v4
16g.28835701T>GCA395408440ATXN2Lc.2838T>G (p.Tyr946Ter)
c.813T>G (p.Tyr271Ter)
n.3212T>G
c.33T>G (p.Tyr11Ter)
c.2856T>G (p.Tyr952Ter)
c.1902T>G (n.1902T>G)
c.107T>G
c.816T>G (p.Tyr272Ter)
c.358T>G
c.2859T>G (p.Tyr953Ter)
c.2841T>G (p.Tyr947Ter)
c.2679T>G (p.Tyr893Ter)
c.2787T>G (p.Tyr929Ter)
c.2769T>G (p.Tyr923Ter)
c.2493T>G (p.Tyr831Ter)
n.3068T>G
c.2661T>G (p.Tyr887Ter)
c.2475T>G (p.Tyr825Ter)
n.3071T>G
c.2766T>G (p.Tyr922Ter)
c.2832T>G (p.Tyr944Ter)
c.2784T>G (p.Tyr928Ter)
c.2649T>G (p.Tyr883Ter)
16g.28835701T=CA2215806435ATXN2Lc.2838T= (p.Tyr946=)
c.813T= (p.Tyr271=)
n.3212T=
c.33T= (p.Tyr11=)
c.2856T= (p.Tyr952=)
c.1902T= (n.1902T=)
c.107T=
c.816T= (p.Tyr272=)
c.358T=
c.2859T= (p.Tyr953=)
c.2841T= (p.Tyr947=)
c.2679T= (p.Tyr893=)
c.2787T= (p.Tyr929=)
c.2769T= (p.Tyr923=)
c.2493T= (p.Tyr831=)
n.3068T=
c.2661T= (p.Tyr887=)
c.2475T= (p.Tyr825=)
n.3071T=
c.2766T= (p.Tyr922=)
c.2832T= (p.Tyr944=)
c.2784T= (p.Tyr928=)
c.2649T= (p.Tyr883=)
16g.28835702G>ACA395408442ATXN2Lc.2839G>A (p.Ala947Thr)
c.814G>A (p.Ala272Thr)
n.3213G>A
c.34G>A (p.Ala12Thr)
c.2857G>A (p.Ala953Thr)
c.1903G>A (n.1903G>A)
c.108G>A
c.817G>A (p.Ala273Thr)
c.359G>A
c.2860G>A (p.Ala954Thr)
c.2842G>A (p.Ala948Thr)
c.2680G>A (p.Ala894Thr)
c.2788G>A (p.Ala930Thr)
c.2770G>A (p.Ala924Thr)
c.2494G>A (p.Ala832Thr)
n.3069G>A
c.2662G>A (p.Ala888Thr)
c.2476G>A (p.Ala826Thr)
n.3072G>A
c.2767G>A (p.Ala923Thr)
c.2833G>A (p.Ala945Thr)
c.2785G>A (p.Ala929Thr)
c.2650G>A (p.Ala884Thr)
16g.28835702G>CCA395408444ATXN2Lc.2839G>C (p.Ala947Pro)
c.814G>C (p.Ala272Pro)
n.3213G>C
c.34G>C (p.Ala12Pro)
c.2857G>C (p.Ala953Pro)
c.1903G>C (n.1903G>C)
c.108G>C
c.817G>C (p.Ala273Pro)
c.359G>C
c.2860G>C (p.Ala954Pro)
c.2842G>C (p.Ala948Pro)
c.2680G>C (p.Ala894Pro)
c.2788G>C (p.Ala930Pro)
c.2770G>C (p.Ala924Pro)
c.2494G>C (p.Ala832Pro)
n.3069G>C
c.2662G>C (p.Ala888Pro)
c.2476G>C (p.Ala826Pro)
n.3072G>C
c.2767G>C (p.Ala923Pro)
c.2833G>C (p.Ala945Pro)
c.2785G>C (p.Ala929Pro)
c.2650G>C (p.Ala884Pro)
16g.28835702G>TCA395408446ATXN2Lc.2839G>T (p.Ala947Ser)
c.814G>T (p.Ala272Ser)
n.3213G>T
c.34G>T (p.Ala12Ser)
c.2857G>T (p.Ala953Ser)
c.1903G>T (n.1903G>T)
c.108G>T
c.817G>T (p.Ala273Ser)
c.359G>T
c.2860G>T (p.Ala954Ser)
c.2842G>T (p.Ala948Ser)
c.2680G>T (p.Ala894Ser)
c.2788G>T (p.Ala930Ser)
c.2770G>T (p.Ala924Ser)
c.2494G>T (p.Ala832Ser)
n.3069G>T
c.2662G>T (p.Ala888Ser)
c.2476G>T (p.Ala826Ser)
n.3072G>T
c.2767G>T (p.Ala923Ser)
c.2833G>T (p.Ala945Ser)
c.2785G>T (p.Ala929Ser)
c.2650G>T (p.Ala884Ser)
16g.28835703C>ACA395408448ATXN2Lc.2840C>A (p.Ala947Asp)
c.815C>A (p.Ala272Asp)
n.3214C>A
c.35C>A (p.Ala12Asp)
c.2858C>A (p.Ala953Asp)
c.1904C>A (n.1904C>A)
c.109C>A
c.818C>A (p.Ala273Asp)
c.360C>A
c.2861C>A (p.Ala954Asp)
c.2843C>A (p.Ala948Asp)
c.2681C>A (p.Ala894Asp)
c.2789C>A (p.Ala930Asp)
c.2771C>A (p.Ala924Asp)
c.2495C>A (p.Ala832Asp)
n.3070C>A
c.2663C>A (p.Ala888Asp)
c.2477C>A (p.Ala826Asp)
n.3073C>A
c.2768C>A (p.Ala923Asp)
c.2834C>A (p.Ala945Asp)
c.2786C>A (p.Ala929Asp)
c.2651C>A (p.Ala884Asp)
16g.28835703C>GCA395408452ATXN2Lc.2840C>G (p.Ala947Gly)
c.815C>G (p.Ala272Gly)
n.3214C>G
c.35C>G (p.Ala12Gly)
c.2858C>G (p.Ala953Gly)
c.1904C>G (n.1904C>G)
c.109C>G
c.818C>G (p.Ala273Gly)
c.360C>G
c.2861C>G (p.Ala954Gly)
c.2843C>G (p.Ala948Gly)
c.2681C>G (p.Ala894Gly)
c.2789C>G (p.Ala930Gly)
c.2771C>G (p.Ala924Gly)
c.2495C>G (p.Ala832Gly)
n.3070C>G
c.2663C>G (p.Ala888Gly)
c.2477C>G (p.Ala826Gly)
n.3073C>G
c.2768C>G (p.Ala923Gly)
c.2834C>G (p.Ala945Gly)
c.2786C>G (p.Ala929Gly)
c.2651C>G (p.Ala884Gly)
16g.28835703C>TCA395408450ATXN2Lc.2840C>T (p.Ala947Val)
c.815C>T (p.Ala272Val)
n.3214C>T
c.35C>T (p.Ala12Val)
c.2858C>T (p.Ala953Val)
c.1904C>T (n.1904C>T)
c.109C>T
c.818C>T (p.Ala273Val)
c.360C>T
c.2861C>T (p.Ala954Val)
c.2843C>T (p.Ala948Val)
c.2681C>T (p.Ala894Val)
c.2789C>T (p.Ala930Val)
c.2771C>T (p.Ala924Val)
c.2495C>T (p.Ala832Val)
n.3070C>T
c.2663C>T (p.Ala888Val)
c.2477C>T (p.Ala826Val)
n.3073C>T
c.2768C>T (p.Ala923Val)
c.2834C>T (p.Ala945Val)
c.2786C>T (p.Ala929Val)
c.2651C>T (p.Ala884Val)
 gnomAD v4
16g.28835704C>ACA494869299ATXN2Lc.2841C>A (p.Ala947=)
c.816C>A (p.Ala272=)
n.3215C>A
c.36C>A (p.Ala12=)
c.2859C>A (p.Ala953=)
c.1905C>A (n.1905C>A)
c.110C>A
c.819C>A (p.Ala273=)
c.361C>A
c.2862C>A (p.Ala954=)
c.2844C>A (p.Ala948=)
c.2682C>A (p.Ala894=)
c.2790C>A (p.Ala930=)
c.2772C>A (p.Ala924=)
c.2496C>A (p.Ala832=)
n.3071C>A
c.2664C>A (p.Ala888=)
c.2478C>A (p.Ala826=)
n.3074C>A
c.2769C>A (p.Ala923=)
c.2835C>A (p.Ala945=)
c.2787C>A (p.Ala929=)
c.2652C>A (p.Ala884=)
16g.28835704C=CA2215806439ATXN2Lc.2841C= (p.Ala947=)
c.816C= (p.Ala272=)
n.3215C=
c.36C= (p.Ala12=)
c.2859C= (p.Ala953=)
c.1905C= (n.1905C=)
c.110C=
c.819C= (p.Ala273=)
c.361C=
c.2862C= (p.Ala954=)
c.2844C= (p.Ala948=)
c.2682C= (p.Ala894=)
c.2790C= (p.Ala930=)
c.2772C= (p.Ala924=)
c.2496C= (p.Ala832=)
n.3071C=
c.2664C= (p.Ala888=)
c.2478C= (p.Ala826=)
n.3074C=
c.2769C= (p.Ala923=)
c.2835C= (p.Ala945=)
c.2787C= (p.Ala929=)
c.2652C= (p.Ala884=)
16g.28835704C>GCA494869302ATXN2Lc.2841C>G (p.Ala947=)
c.816C>G (p.Ala272=)
n.3215C>G
c.36C>G (p.Ala12=)
c.2859C>G (p.Ala953=)
c.1905C>G (n.1905C>G)
c.110C>G
c.819C>G (p.Ala273=)
c.361C>G
c.2862C>G (p.Ala954=)
c.2844C>G (p.Ala948=)
c.2682C>G (p.Ala894=)
c.2790C>G (p.Ala930=)
c.2772C>G (p.Ala924=)
c.2496C>G (p.Ala832=)
n.3071C>G
c.2664C>G (p.Ala888=)
c.2478C>G (p.Ala826=)
n.3074C>G
c.2769C>G (p.Ala923=)
c.2835C>G (p.Ala945=)
c.2787C>G (p.Ala929=)
c.2652C>G (p.Ala884=)
16g.28835704C>TCA7985101ATXN2Lc.2841C>T (p.Ala947=)
c.816C>T (p.Ala272=)
n.3215C>T
c.36C>T (p.Ala12=)
c.2859C>T (p.Ala953=)
c.1905C>T (n.1905C>T)
c.110C>T
c.819C>T (p.Ala273=)
c.361C>T
c.2862C>T (p.Ala954=)
c.2844C>T (p.Ala948=)
c.2682C>T (p.Ala894=)
c.2790C>T (p.Ala930=)
c.2772C>T (p.Ala924=)
c.2496C>T (p.Ala832=)
n.3071C>T
c.2664C>T (p.Ala888=)
c.2478C>T (p.Ala826=)
n.3074C>T
c.2769C>T (p.Ala923=)
c.2835C>T (p.Ala945=)
c.2787C>T (p.Ala929=)
c.2652C>T (p.Ala884=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835705A>CCA395408457ATXN2Lc.2842A>C (p.Ile948Leu)
c.817A>C (p.Ile273Leu)
n.3216A>C
c.37A>C (p.Ile13Leu)
c.2860A>C (p.Ile954Leu)
c.1906A>C (n.1906A>C)
c.111A>C
c.820A>C (p.Ile274Leu)
c.362A>C
c.2863A>C (p.Ile955Leu)
c.2845A>C (p.Ile949Leu)
c.2683A>C (p.Ile895Leu)
c.2791A>C (p.Ile931Leu)
c.2773A>C (p.Ile925Leu)
c.2497A>C (p.Ile833Leu)
n.3072A>C
c.2665A>C (p.Ile889Leu)
c.2479A>C (p.Ile827Leu)
n.3075A>C
c.2770A>C (p.Ile924Leu)
c.2836A>C (p.Ile946Leu)
c.2788A>C (p.Ile930Leu)
c.2653A>C (p.Ile885Leu)
16g.28835705A>GCA395408455ATXN2Lc.2842A>G (p.Ile948Val)
c.817A>G (p.Ile273Val)
n.3216A>G
c.37A>G (p.Ile13Val)
c.2860A>G (p.Ile954Val)
c.1906A>G (n.1906A>G)
c.111A>G
c.820A>G (p.Ile274Val)
c.362A>G
c.2863A>G (p.Ile955Val)
c.2845A>G (p.Ile949Val)
c.2683A>G (p.Ile895Val)
c.2791A>G (p.Ile931Val)
c.2773A>G (p.Ile925Val)
c.2497A>G (p.Ile833Val)
n.3072A>G
c.2665A>G (p.Ile889Val)
c.2479A>G (p.Ile827Val)
n.3075A>G
c.2770A>G (p.Ile924Val)
c.2836A>G (p.Ile946Val)
c.2788A>G (p.Ile930Val)
c.2653A>G (p.Ile885Val)
 COSMIC COSMIC COSMIC COSMIC
16g.28835705A>TCA395408459ATXN2Lc.2842A>T (p.Ile948Phe)
c.817A>T (p.Ile273Phe)
n.3216A>T
c.37A>T (p.Ile13Phe)
c.2860A>T (p.Ile954Phe)
c.1906A>T (n.1906A>T)
c.111A>T
c.820A>T (p.Ile274Phe)
c.362A>T
c.2863A>T (p.Ile955Phe)
c.2845A>T (p.Ile949Phe)
c.2683A>T (p.Ile895Phe)
c.2791A>T (p.Ile931Phe)
c.2773A>T (p.Ile925Phe)
c.2497A>T (p.Ile833Phe)
n.3072A>T
c.2665A>T (p.Ile889Phe)
c.2479A>T (p.Ile827Phe)
n.3075A>T
c.2770A>T (p.Ile924Phe)
c.2836A>T (p.Ile946Phe)
c.2788A>T (p.Ile930Phe)
c.2653A>T (p.Ile885Phe)
 gnomAD v4
16g.28835706T>ACA395408461ATXN2Lc.2843T>A (p.Ile948Asn)
c.818T>A (p.Ile273Asn)
n.3217T>A
c.38T>A (p.Ile13Asn)
c.2861T>A (p.Ile954Asn)
c.1907T>A (n.1907T>A)
c.112T>A
c.821T>A (p.Ile274Asn)
c.363T>A
c.2864T>A (p.Ile955Asn)
c.2846T>A (p.Ile949Asn)
c.2684T>A (p.Ile895Asn)
c.2792T>A (p.Ile931Asn)
c.2774T>A (p.Ile925Asn)
c.2498T>A (p.Ile833Asn)
n.3073T>A
c.2666T>A (p.Ile889Asn)
c.2480T>A (p.Ile827Asn)
n.3076T>A
c.2771T>A (p.Ile924Asn)
c.2837T>A (p.Ile946Asn)
c.2789T>A (p.Ile930Asn)
c.2654T>A (p.Ile885Asn)
16g.28835706T>CCA395408465ATXN2Lc.2843T>C (p.Ile948Thr)
c.818T>C (p.Ile273Thr)
n.3217T>C
c.38T>C (p.Ile13Thr)
c.2861T>C (p.Ile954Thr)
c.1907T>C (n.1907T>C)
c.112T>C
c.821T>C (p.Ile274Thr)
c.363T>C
c.2864T>C (p.Ile955Thr)
c.2846T>C (p.Ile949Thr)
c.2684T>C (p.Ile895Thr)
c.2792T>C (p.Ile931Thr)
c.2774T>C (p.Ile925Thr)
c.2498T>C (p.Ile833Thr)
n.3073T>C
c.2666T>C (p.Ile889Thr)
c.2480T>C (p.Ile827Thr)
n.3076T>C
c.2771T>C (p.Ile924Thr)
c.2837T>C (p.Ile946Thr)
c.2789T>C (p.Ile930Thr)
c.2654T>C (p.Ile885Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.28835706T>GCA395408463ATXN2Lc.2843T>G (p.Ile948Ser)
c.818T>G (p.Ile273Ser)
n.3217T>G
c.38T>G (p.Ile13Ser)
c.2861T>G (p.Ile954Ser)
c.1907T>G (n.1907T>G)
c.112T>G
c.821T>G (p.Ile274Ser)
c.363T>G
c.2864T>G (p.Ile955Ser)
c.2846T>G (p.Ile949Ser)
c.2684T>G (p.Ile895Ser)
c.2792T>G (p.Ile931Ser)
c.2774T>G (p.Ile925Ser)
c.2498T>G (p.Ile833Ser)
n.3073T>G
c.2666T>G (p.Ile889Ser)
c.2480T>G (p.Ile827Ser)
n.3076T>G
c.2771T>G (p.Ile924Ser)
c.2837T>G (p.Ile946Ser)
c.2789T>G (p.Ile930Ser)
c.2654T>G (p.Ile885Ser)
16g.28835706_28835709delinsTCCACA2215806444ATXN2Lc.2843_2846delinsTCCA (p.Ile948=)
c.818_821delinsTCCA (p.Ile273=)
n.3217_3220delinsTCCA
c.38_41delinsTCCA (p.Ile13=)
c.2861_2864delinsTCCA (p.Ile954=)
c.1907_1910delinsTCCA (n.1907_1910delinsTCCA)
c.112_115delinsTCCA
c.821_824delinsTCCA (p.Ile274=)
c.363_366delinsTCCA
c.2864_2867delinsTCCA (p.Ile955=)
c.2846_2849delinsTCCA (p.Ile949=)
c.2684_2687delinsTCCA (p.Ile895=)
c.2792_2795delinsTCCA (p.Ile931=)
c.2774_2777delinsTCCA (p.Ile925=)
c.2498_2501delinsTCCA (p.Ile833=)
n.3073_3076delinsTCCA
c.2666_2669delinsTCCA (p.Ile889=)
c.2480_2483delinsTCCA (p.Ile827=)
n.3076_3079delinsTCCA
c.2771_2774delinsTCCA (p.Ile924=)
c.2837_2840delinsTCCA (p.Ile946=)
c.2789_2792delinsTCCA (p.Ile930=)
c.2654_2657delinsTCCA (p.Ile885=)
16g.28835707C>ACA494869314ATXN2Lc.2844C>A (p.Ile948=)
c.819C>A (p.Ile273=)
n.3218C>A
c.39C>A (p.Ile13=)
c.2862C>A (p.Ile954=)
c.1908C>A (n.1908C>A)
c.113C>A
c.822C>A (p.Ile274=)
c.364C>A
c.2865C>A (p.Ile955=)
c.2847C>A (p.Ile949=)
c.2685C>A (p.Ile895=)
c.2793C>A (p.Ile931=)
c.2775C>A (p.Ile925=)
c.2499C>A (p.Ile833=)
n.3074C>A
c.2667C>A (p.Ile889=)
c.2481C>A (p.Ile827=)
n.3077C>A
c.2772C>A (p.Ile924=)
c.2838C>A (p.Ile946=)
c.2790C>A (p.Ile930=)
c.2655C>A (p.Ile885=)
16g.28835707C>GCA395408467ATXN2Lc.2844C>G (p.Ile948Met)
c.819C>G (p.Ile273Met)
n.3218C>G
c.39C>G (p.Ile13Met)
c.2862C>G (p.Ile954Met)
c.1908C>G (n.1908C>G)
c.113C>G
c.822C>G (p.Ile274Met)
c.364C>G
c.2865C>G (p.Ile955Met)
c.2847C>G (p.Ile949Met)
c.2685C>G (p.Ile895Met)
c.2793C>G (p.Ile931Met)
c.2775C>G (p.Ile925Met)
c.2499C>G (p.Ile833Met)
n.3074C>G
c.2667C>G (p.Ile889Met)
c.2481C>G (p.Ile827Met)
n.3077C>G
c.2772C>G (p.Ile924Met)
c.2838C>G (p.Ile946Met)
c.2790C>G (p.Ile930Met)
c.2655C>G (p.Ile885Met)
16g.28835707C>TCA494869324ATXN2Lc.2844C>T (p.Ile948=)
c.819C>T (p.Ile273=)
n.3218C>T
c.39C>T (p.Ile13=)
c.2862C>T (p.Ile954=)
c.1908C>T (n.1908C>T)
c.113C>T
c.822C>T (p.Ile274=)
c.364C>T
c.2865C>T (p.Ile955=)
c.2847C>T (p.Ile949=)
c.2685C>T (p.Ile895=)
c.2793C>T (p.Ile931=)
c.2775C>T (p.Ile925=)
c.2499C>T (p.Ile833=)
n.3074C>T
c.2667C>T (p.Ile889=)
c.2481C>T (p.Ile827=)
n.3077C>T
c.2772C>T (p.Ile924=)
c.2838C>T (p.Ile946=)
c.2790C>T (p.Ile930=)
c.2655C>T (p.Ile885=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835713_28835715delCA7985102ATXN2Lc.2850_2852del (p.His950del)
c.825_827del (p.His275del)
n.3224_3226del
c.45_47del (p.His15del)
c.2868_2870del (p.His956del)
c.1914_1916del (n.1914_1916del)
c.119_121del
c.828_830del (p.His276del)
c.370_372del
c.2871_2873del (p.His957del)
c.2853_2855del (p.His951del)
c.2691_2693del (p.His897del)
c.2799_2801del (p.His933del)
c.2781_2783del (p.His927del)
c.2505_2507del (p.His835del)
n.3080_3082del
c.2673_2675del (p.His891del)
c.2487_2489del (p.His829del)
n.3083_3085del
c.2778_2780del (p.His926del)
c.2844_2846del (p.His948del)
c.2796_2798del (p.His932del)
c.2661_2663del (p.His887del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835708C>ACA395408470ATXN2Lc.2845C>A (p.His949Asn)
c.820C>A (p.His274Asn)
n.3219C>A
c.40C>A (p.His14Asn)
c.2863C>A (p.His955Asn)
c.1909C>A (n.1909C>A)
c.114C>A
c.823C>A (p.His275Asn)
c.365C>A
c.2866C>A (p.His956Asn)
c.2848C>A (p.His950Asn)
c.2686C>A (p.His896Asn)
c.2794C>A (p.His932Asn)
c.2776C>A (p.His926Asn)
c.2500C>A (p.His834Asn)
n.3075C>A
c.2668C>A (p.His890Asn)
c.2482C>A (p.His828Asn)
n.3078C>A
c.2773C>A (p.His925Asn)
c.2839C>A (p.His947Asn)
c.2791C>A (p.His931Asn)
c.2656C>A (p.His886Asn)
16g.28835708C>GCA395408474ATXN2Lc.2845C>G (p.His949Asp)
c.820C>G (p.His274Asp)
n.3219C>G
c.40C>G (p.His14Asp)
c.2863C>G (p.His955Asp)
c.1909C>G (n.1909C>G)
c.114C>G
c.823C>G (p.His275Asp)
c.365C>G
c.2866C>G (p.His956Asp)
c.2848C>G (p.His950Asp)
c.2686C>G (p.His896Asp)
c.2794C>G (p.His932Asp)
c.2776C>G (p.His926Asp)
c.2500C>G (p.His834Asp)
n.3075C>G
c.2668C>G (p.His890Asp)
c.2482C>G (p.His828Asp)
n.3078C>G
c.2773C>G (p.His925Asp)
c.2839C>G (p.His947Asp)
c.2791C>G (p.His931Asp)
c.2656C>G (p.His886Asp)
16g.28835708C>TCA395408476ATXN2Lc.2845C>T (p.His949Tyr)
c.820C>T (p.His274Tyr)
n.3219C>T
c.40C>T (p.His14Tyr)
c.2863C>T (p.His955Tyr)
c.1909C>T (n.1909C>T)
c.114C>T
c.823C>T (p.His275Tyr)
c.365C>T
c.2866C>T (p.His956Tyr)
c.2848C>T (p.His950Tyr)
c.2686C>T (p.His896Tyr)
c.2794C>T (p.His932Tyr)
c.2776C>T (p.His926Tyr)
c.2500C>T (p.His834Tyr)
n.3075C>T
c.2668C>T (p.His890Tyr)
c.2482C>T (p.His828Tyr)
n.3078C>T
c.2773C>T (p.His925Tyr)
c.2839C>T (p.His947Tyr)
c.2791C>T (p.His931Tyr)
c.2656C>T (p.His886Tyr)
 gnomAD v4
16g.28835709A=CA2215806449ATXN2Lc.2846A= (p.His949=)
c.821A= (p.His274=)
n.3220A=
c.41A= (p.His14=)
c.2864A= (p.His955=)
c.1910A= (n.1910A=)
c.115A=
c.824A= (p.His275=)
c.366A=
c.2867A= (p.His956=)
c.2849A= (p.His950=)
c.2687A= (p.His896=)
c.2795A= (p.His932=)
c.2777A= (p.His926=)
c.2501A= (p.His834=)
n.3076A=
c.2669A= (p.His890=)
c.2483A= (p.His828=)
n.3079A=
c.2774A= (p.His925=)
c.2840A= (p.His947=)
c.2792A= (p.His931=)
c.2657A= (p.His886=)
16g.28835709A>CCA395408478ATXN2Lc.2846A>C (p.His949Pro)
c.821A>C (p.His274Pro)
n.3220A>C
c.41A>C (p.His14Pro)
c.2864A>C (p.His955Pro)
c.1910A>C (n.1910A>C)
c.115A>C
c.824A>C (p.His275Pro)
c.366A>C
c.2867A>C (p.His956Pro)
c.2849A>C (p.His950Pro)
c.2687A>C (p.His896Pro)
c.2795A>C (p.His932Pro)
c.2777A>C (p.His926Pro)
c.2501A>C (p.His834Pro)
n.3076A>C
c.2669A>C (p.His890Pro)
c.2483A>C (p.His828Pro)
n.3079A>C
c.2774A>C (p.His925Pro)
c.2840A>C (p.His947Pro)
c.2792A>C (p.His931Pro)
c.2657A>C (p.His886Pro)
16g.28835709A>GCA395408479ATXN2Lc.2846A>G (p.His949Arg)
c.821A>G (p.His274Arg)
n.3220A>G
c.41A>G (p.His14Arg)
c.2864A>G (p.His955Arg)
c.1910A>G (n.1910A>G)
c.115A>G
c.824A>G (p.His275Arg)
c.366A>G
c.2867A>G (p.His956Arg)
c.2849A>G (p.His950Arg)
c.2687A>G (p.His896Arg)
c.2795A>G (p.His932Arg)
c.2777A>G (p.His926Arg)
c.2501A>G (p.His834Arg)
n.3076A>G
c.2669A>G (p.His890Arg)
c.2483A>G (p.His828Arg)
n.3079A>G
c.2774A>G (p.His925Arg)
c.2840A>G (p.His947Arg)
c.2792A>G (p.His931Arg)
c.2657A>G (p.His886Arg)
16g.28835709A>TCA395408481ATXN2Lc.2846A>T (p.His949Leu)
c.821A>T (p.His274Leu)
n.3220A>T
c.41A>T (p.His14Leu)
c.2864A>T (p.His955Leu)
c.1910A>T (n.1910A>T)
c.115A>T
c.824A>T (p.His275Leu)
c.366A>T
c.2867A>T (p.His956Leu)
c.2849A>T (p.His950Leu)
c.2687A>T (p.His896Leu)
c.2795A>T (p.His932Leu)
c.2777A>T (p.His926Leu)
c.2501A>T (p.His834Leu)
n.3076A>T
c.2669A>T (p.His890Leu)
c.2483A>T (p.His828Leu)
n.3079A>T
c.2774A>T (p.His925Leu)
c.2840A>T (p.His947Leu)
c.2792A>T (p.His931Leu)
c.2657A>T (p.His886Leu)
16g.28835709_28835710insTGCCA2215806451ATXN2Lc.2846_2847insTGC (p.His949_His950insAla)
c.821_822insTGC (p.His274_His275insAla)
n.3220_3221insTGC
c.41_42insTGC (p.His14_His15insAla)
c.2864_2865insTGC (p.His955_His956insAla)
c.1910_1911insTGC (n.1910_1911insTGC)
c.115_116insTGC
c.824_825insTGC (p.His275_His276insAla)
c.366_367insTGC
c.2867_2868insTGC (p.His956_His957insAla)
c.2849_2850insTGC (p.His950_His951insAla)
c.2687_2688insTGC (p.His896_His897insAla)
c.2795_2796insTGC (p.His932_His933insAla)
c.2777_2778insTGC (p.His926_His927insAla)
c.2501_2502insTGC (p.His834_His835insAla)
n.3076_3077insTGC
c.2669_2670insTGC (p.His890_His891insAla)
c.2483_2484insTGC (p.His828_His829insAla)
n.3079_3080insTGC
c.2774_2775insTGC (p.His925_His926insAla)
c.2840_2841insTGC (p.His947_His948insAla)
c.2792_2793insTGC (p.His931_His932insAla)
c.2657_2658insTGC (p.His886_His887insAla)
 dbSNP
16g.28835710C>ACA395408483ATXN2Lc.2847C>A (p.His949Gln)
c.822C>A (p.His274Gln)
n.3221C>A
c.42C>A (p.His14Gln)
c.2865C>A (p.His955Gln)
c.1911C>A (n.1911C>A)
c.116C>A
c.825C>A (p.His275Gln)
c.367C>A
c.2868C>A (p.His956Gln)
c.2850C>A (p.His950Gln)
c.2688C>A (p.His896Gln)
c.2796C>A (p.His932Gln)
c.2778C>A (p.His926Gln)
c.2502C>A (p.His834Gln)
n.3077C>A
c.2670C>A (p.His890Gln)
c.2484C>A (p.His828Gln)
n.3080C>A
c.2775C>A (p.His925Gln)
c.2841C>A (p.His947Gln)
c.2793C>A (p.His931Gln)
c.2658C>A (p.His886Gln)
16g.28835710C>GCA395408485ATXN2Lc.2847C>G (p.His949Gln)
c.822C>G (p.His274Gln)
n.3221C>G
c.42C>G (p.His14Gln)
c.2865C>G (p.His955Gln)
c.1911C>G (n.1911C>G)
c.116C>G
c.825C>G (p.His275Gln)
c.367C>G
c.2868C>G (p.His956Gln)
c.2850C>G (p.His950Gln)
c.2688C>G (p.His896Gln)
c.2796C>G (p.His932Gln)
c.2778C>G (p.His926Gln)
c.2502C>G (p.His834Gln)
n.3077C>G
c.2670C>G (p.His890Gln)
c.2484C>G (p.His828Gln)
n.3080C>G
c.2775C>G (p.His925Gln)
c.2841C>G (p.His947Gln)
c.2793C>G (p.His931Gln)
c.2658C>G (p.His886Gln)
16g.28835710C>TCA494869340ATXN2Lc.2847C>T (p.His949=)
c.822C>T (p.His274=)
n.3221C>T
c.42C>T (p.His14=)
c.2865C>T (p.His955=)
c.1911C>T (n.1911C>T)
c.116C>T
c.825C>T (p.His275=)
c.367C>T
c.2868C>T (p.His956=)
c.2850C>T (p.His950=)
c.2688C>T (p.His896=)
c.2796C>T (p.His932=)
c.2778C>T (p.His926=)
c.2502C>T (p.His834=)
n.3077C>T
c.2670C>T (p.His890=)
c.2484C>T (p.His828=)
n.3080C>T
c.2775C>T (p.His925=)
c.2841C>T (p.His947=)
c.2793C>T (p.His931=)
c.2658C>T (p.His886=)
16g.28835711C>ACA395408490ATXN2Lc.2848C>A (p.His950Asn)
c.823C>A (p.His275Asn)
n.3222C>A
c.43C>A (p.His15Asn)
c.2866C>A (p.His956Asn)
c.1912C>A (n.1912C>A)
c.117C>A
c.826C>A (p.His276Asn)
c.368C>A
c.2869C>A (p.His957Asn)
c.2851C>A (p.His951Asn)
c.2689C>A (p.His897Asn)
c.2797C>A (p.His933Asn)
c.2779C>A (p.His927Asn)
c.2503C>A (p.His835Asn)
n.3078C>A
c.2671C>A (p.His891Asn)
c.2485C>A (p.His829Asn)
n.3081C>A
c.2776C>A (p.His926Asn)
c.2842C>A (p.His948Asn)
c.2794C>A (p.His932Asn)
c.2659C>A (p.His887Asn)
16g.28835711C>GCA395408489ATXN2Lc.2848C>G (p.His950Asp)
c.823C>G (p.His275Asp)
n.3222C>G
c.43C>G (p.His15Asp)
c.2866C>G (p.His956Asp)
c.1912C>G (n.1912C>G)
c.117C>G
c.826C>G (p.His276Asp)
c.368C>G
c.2869C>G (p.His957Asp)
c.2851C>G (p.His951Asp)
c.2689C>G (p.His897Asp)
c.2797C>G (p.His933Asp)
c.2779C>G (p.His927Asp)
c.2503C>G (p.His835Asp)
n.3078C>G
c.2671C>G (p.His891Asp)
c.2485C>G (p.His829Asp)
n.3081C>G
c.2776C>G (p.His926Asp)
c.2842C>G (p.His948Asp)
c.2794C>G (p.His932Asp)
c.2659C>G (p.His887Asp)
16g.28835711C>TCA395408487ATXN2Lc.2848C>T (p.His950Tyr)
c.823C>T (p.His275Tyr)
n.3222C>T
c.43C>T (p.His15Tyr)
c.2866C>T (p.His956Tyr)
c.1912C>T (n.1912C>T)
c.117C>T
c.826C>T (p.His276Tyr)
c.368C>T
c.2869C>T (p.His957Tyr)
c.2851C>T (p.His951Tyr)
c.2689C>T (p.His897Tyr)
c.2797C>T (p.His933Tyr)
c.2779C>T (p.His927Tyr)
c.2503C>T (p.His835Tyr)
n.3078C>T
c.2671C>T (p.His891Tyr)
c.2485C>T (p.His829Tyr)
n.3081C>T
c.2776C>T (p.His926Tyr)
c.2842C>T (p.His948Tyr)
c.2794C>T (p.His932Tyr)
c.2659C>T (p.His887Tyr)
 gnomAD v4
16g.28835712A>CCA395408493ATXN2Lc.2849A>C (p.His950Pro)
c.824A>C (p.His275Pro)
n.3223A>C
c.44A>C (p.His15Pro)
c.2867A>C (p.His956Pro)
c.1913A>C (n.1913A>C)
c.118A>C
c.827A>C (p.His276Pro)
c.369A>C
c.2870A>C (p.His957Pro)
c.2852A>C (p.His951Pro)
c.2690A>C (p.His897Pro)
c.2798A>C (p.His933Pro)
c.2780A>C (p.His927Pro)
c.2504A>C (p.His835Pro)
n.3079A>C
c.2672A>C (p.His891Pro)
c.2486A>C (p.His829Pro)
n.3082A>C
c.2777A>C (p.His926Pro)
c.2843A>C (p.His948Pro)
c.2795A>C (p.His932Pro)
c.2660A>C (p.His887Pro)
16g.28835712A>GCA395408494ATXN2Lc.2849A>G (p.His950Arg)
c.824A>G (p.His275Arg)
n.3223A>G
c.44A>G (p.His15Arg)
c.2867A>G (p.His956Arg)
c.1913A>G (n.1913A>G)
c.118A>G
c.827A>G (p.His276Arg)
c.369A>G
c.2870A>G (p.His957Arg)
c.2852A>G (p.His951Arg)
c.2690A>G (p.His897Arg)
c.2798A>G (p.His933Arg)
c.2780A>G (p.His927Arg)
c.2504A>G (p.His835Arg)
n.3079A>G
c.2672A>G (p.His891Arg)
c.2486A>G (p.His829Arg)
n.3082A>G
c.2777A>G (p.His926Arg)
c.2843A>G (p.His948Arg)
c.2795A>G (p.His932Arg)
c.2660A>G (p.His887Arg)
16g.28835712A>TCA395408496ATXN2Lc.2849A>T (p.His950Leu)
c.824A>T (p.His275Leu)
n.3223A>T
c.44A>T (p.His15Leu)
c.2867A>T (p.His956Leu)
c.1913A>T (n.1913A>T)
c.118A>T
c.827A>T (p.His276Leu)
c.369A>T
c.2870A>T (p.His957Leu)
c.2852A>T (p.His951Leu)
c.2690A>T (p.His897Leu)
c.2798A>T (p.His933Leu)
c.2780A>T (p.His927Leu)
c.2504A>T (p.His835Leu)
n.3079A>T
c.2672A>T (p.His891Leu)
c.2486A>T (p.His829Leu)
n.3082A>T
c.2777A>T (p.His926Leu)
c.2843A>T (p.His948Leu)
c.2795A>T (p.His932Leu)
c.2660A>T (p.His887Leu)
16g.28835713C>ACA395408498ATXN2Lc.2850C>A (p.His950Gln)
c.825C>A (p.His275Gln)
n.3224C>A
c.45C>A (p.His15Gln)
c.2868C>A (p.His956Gln)
c.1914C>A (n.1914C>A)
c.119C>A
c.828C>A (p.His276Gln)
c.370C>A
c.2871C>A (p.His957Gln)
c.2853C>A (p.His951Gln)
c.2691C>A (p.His897Gln)
c.2799C>A (p.His933Gln)
c.2781C>A (p.His927Gln)
c.2505C>A (p.His835Gln)
n.3080C>A
c.2673C>A (p.His891Gln)
c.2487C>A (p.His829Gln)
n.3083C>A
c.2778C>A (p.His926Gln)
c.2844C>A (p.His948Gln)
c.2796C>A (p.His932Gln)
c.2661C>A (p.His887Gln)
16g.28835713C=CA2215806454ATXN2Lc.2850C= (p.His950=)
c.825C= (p.His275=)
n.3224C=
c.45C= (p.His15=)
c.2868C= (p.His956=)
c.1914C= (n.1914C=)
c.119C=
c.828C= (p.His276=)
c.370C=
c.2871C= (p.His957=)
c.2853C= (p.His951=)
c.2691C= (p.His897=)
c.2799C= (p.His933=)
c.2781C= (p.His927=)
c.2505C= (p.His835=)
n.3080C=
c.2673C= (p.His891=)
c.2487C= (p.His829=)
n.3083C=
c.2778C= (p.His926=)
c.2844C= (p.His948=)
c.2796C= (p.His932=)
c.2661C= (p.His887=)
16g.28835713C>GCA7985103ATXN2Lc.2850C>G (p.His950Gln)
c.825C>G (p.His275Gln)
n.3224C>G
c.45C>G (p.His15Gln)
c.2868C>G (p.His956Gln)
c.1914C>G (n.1914C>G)
c.119C>G
c.828C>G (p.His276Gln)
c.370C>G
c.2871C>G (p.His957Gln)
c.2853C>G (p.His951Gln)
c.2691C>G (p.His897Gln)
c.2799C>G (p.His933Gln)
c.2781C>G (p.His927Gln)
c.2505C>G (p.His835Gln)
n.3080C>G
c.2673C>G (p.His891Gln)
c.2487C>G (p.His829Gln)
n.3083C>G
c.2778C>G (p.His926Gln)
c.2844C>G (p.His948Gln)
c.2796C>G (p.His932Gln)
c.2661C>G (p.His887Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835713C>TCA494869348ATXN2Lc.2850C>T (p.His950=)
c.825C>T (p.His275=)
n.3224C>T
c.45C>T (p.His15=)
c.2868C>T (p.His956=)
c.1914C>T (n.1914C>T)
c.119C>T
c.828C>T (p.His276=)
c.370C>T
c.2871C>T (p.His957=)
c.2853C>T (p.His951=)
c.2691C>T (p.His897=)
c.2799C>T (p.His933=)
c.2781C>T (p.His927=)
c.2505C>T (p.His835=)
n.3080C>T
c.2673C>T (p.His891=)
c.2487C>T (p.His829=)
n.3083C>T
c.2778C>T (p.His926=)
c.2844C>T (p.His948=)
c.2796C>T (p.His932=)
c.2661C>T (p.His887=)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched