Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28835961_28835988delinsCCCCGCCCCCTCACCCTGGGGCTCCCCACA2215806751ATXN2Lc.2924_2951delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala975=)
c.899_926delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala300=)
n.3298_3325delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.119_146delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala40=)
c.2942_2969delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala981=)
c.1988_2015delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (n.1988_2015delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA)
c.193_220delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.902_929delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala301=)
c.444_471delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.2945_2972delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala982=)
c.2927_2954delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala976=)
c.2765_2792delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala922=)
c.2873_2900delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala958=)
c.2855_2882delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala952=)
c.2579_2606delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala860=)
n.3154_3181delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.2747_2774delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala916=)
c.2561_2588delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala854=)
n.3157_3184delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA
c.2852_2879delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala951=)
c.2918_2945delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala973=)
c.2870_2897delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala957=)
c.2735_2762delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (p.Ala912=)
c.2896-162_2896-135delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA (n.2896-162_2896-135delinsCCCCGCCCCCTCACCCTGGGGCTCCCCA)
16g.28835970_28835996delCA622161855ATXN2Lc.2933_2959del (p.Pro978_Pro986del)
c.908_934del (p.Pro303_Pro311del)
n.3307_3333del
c.128_154del (p.Pro43_Pro51del)
c.2951_2977del (p.Pro984_Pro992del)
c.1997_2023del (n.1997_2023del)
c.202_228del
c.911_937del (p.Pro304_Pro312del)
c.453_479del
c.2954_2980del (p.Pro985_Pro993del)
c.2936_2962del (p.Pro979_Pro987del)
c.2774_2800del (p.Pro925_Pro933del)
c.2882_2908del (p.Pro961_Pro969del)
c.2864_2890del (p.Pro955_Pro963del)
c.2588_2614del (p.Pro863_Pro871del)
n.3163_3189del
c.2756_2782del (p.Pro919_Pro927del)
c.2570_2596del (p.Pro857_Pro865del)
n.3166_3192del
c.2861_2887del (p.Pro954_Pro962del)
c.2927_2953del (p.Pro976_Pro984del)
c.2879_2905del (p.Pro960_Pro968del)
c.2744_2770del (p.Pro915_Pro923del)
c.2896-153_2896-127del (n.2896-153_2896-127del)
 dbSNP gnomAD v2 gnomAD v4
16g.28835987dupCA2632529140ATXN2Lc.2950dup (p.His984ProfsTer?)
c.925dup (p.His309ProfsTer?)
n.3324dup
c.145dup (p.His49ProfsTer?)
c.2968dup (p.His990ProfsTer?)
c.2014dup (n.2014dup)
c.219dup
c.928dup (p.His310ProfsTer?)
c.470dup
c.2971dup (p.His991ProfsTer?)
c.2953dup (p.His985ProfsTer?)
c.2791dup (p.His931ProfsTer?)
c.2899dup (p.His967ProfsTer?)
c.2881dup (p.His961ProfsTer?)
c.2605dup (p.His869ProfsTer?)
n.3180dup
c.2773dup (p.His925ProfsTer?)
c.2587dup (p.His863ProfsTer?)
n.3183dup
c.2878dup (p.His960ProfsTer?)
c.2944dup (p.His982ProfsTer?)
c.2896dup (p.His966ProfsTer?)
c.2761dup (p.His921ProfsTer?)
c.2896-136dup (n.2896-136dup)
 gnomAD v4
16g.28835986_28835987dupCA2632529139ATXN2Lc.2949_2950dup (p.His984ProfsTer6)
c.924_925dup (p.His309ProfsTer6)
n.3323_3324dup
c.144_145dup (p.His49ProfsTer6)
c.2967_2968dup (p.His990ProfsTer6)
c.2013_2014dup (n.2013_2014dup)
c.218_219dup
c.927_928dup (p.His310ProfsTer6)
c.469_470dup
c.2970_2971dup (p.His991ProfsTer6)
c.2952_2953dup (p.His985ProfsTer6)
c.2790_2791dup (p.His931ProfsTer6)
c.2898_2899dup (p.His967ProfsTer6)
c.2880_2881dup (p.His961ProfsTer6)
c.2604_2605dup (p.His869ProfsTer6)
n.3179_3180dup
c.2772_2773dup (p.His925ProfsTer6)
c.2586_2587dup (p.His863ProfsTer6)
n.3182_3183dup
c.2877_2878dup (p.His960ProfsTer6)
c.2943_2944dup (p.His982ProfsTer6)
c.2895_2896dup (p.His966ProfsTer6)
c.2760_2761dup (p.His921ProfsTer6)
c.2896-137_2896-136dup (n.2896-137_2896-136dup)
 gnomAD v4
16g.28835985_28835987dupCA2632529134ATXN2Lc.2948_2950dup (p.Pro983_His984insPro)
c.923_925dup (p.Pro308_His309insPro)
n.3322_3324dup
c.143_145dup (p.Pro48_His49insPro)
c.2966_2968dup (p.Pro989_His990insPro)
c.2012_2014dup (n.2012_2014dup)
c.217_219dup
c.926_928dup (p.Pro309_His310insPro)
c.468_470dup
c.2969_2971dup (p.Pro990_His991insPro)
c.2951_2953dup (p.Pro984_His985insPro)
c.2789_2791dup (p.Pro930_His931insPro)
c.2897_2899dup (p.Pro966_His967insPro)
c.2879_2881dup (p.Pro960_His961insPro)
c.2603_2605dup (p.Pro868_His869insPro)
n.3178_3180dup
c.2771_2773dup (p.Pro924_His925insPro)
c.2585_2587dup (p.Pro862_His863insPro)
n.3181_3183dup
c.2876_2878dup (p.Pro959_His960insPro)
c.2942_2944dup (p.Pro981_His982insPro)
c.2894_2896dup (p.Pro965_His966insPro)
c.2759_2761dup (p.Pro920_His921insPro)
c.2896-138_2896-136dup (n.2896-138_2896-136dup)
 gnomAD v4
16g.28835986C>ACA494868615ATXN2Lc.2949C>A (p.Pro983=)
c.924C>A (p.Pro308=)
n.3323C>A
c.144C>A (p.Pro48=)
c.2967C>A (p.Pro989=)
c.2013C>A (n.2013C>A)
c.218C>A
c.927C>A (p.Pro309=)
c.469C>A
c.2970C>A (p.Pro990=)
c.2952C>A (p.Pro984=)
c.2790C>A (p.Pro930=)
c.2898C>A (p.Pro966=)
c.2880C>A (p.Pro960=)
c.2604C>A (p.Pro868=)
n.3179C>A
c.2772C>A (p.Pro924=)
c.2586C>A (p.Pro862=)
n.3182C>A
c.2877C>A (p.Pro959=)
c.2943C>A (p.Pro981=)
c.2895C>A (p.Pro965=)
c.2760C>A (p.Pro920=)
c.2896-137C>A (n.2896-137C>A)
16g.28835986C=CA2215806782ATXN2Lc.2949C= (p.Pro983=)
c.924C= (p.Pro308=)
n.3323C=
c.144C= (p.Pro48=)
c.2967C= (p.Pro989=)
c.2013C= (n.2013C=)
c.218C=
c.927C= (p.Pro309=)
c.469C=
c.2970C= (p.Pro990=)
c.2952C= (p.Pro984=)
c.2790C= (p.Pro930=)
c.2898C= (p.Pro966=)
c.2880C= (p.Pro960=)
c.2604C= (p.Pro868=)
n.3179C=
c.2772C= (p.Pro924=)
c.2586C= (p.Pro862=)
n.3182C=
c.2877C= (p.Pro959=)
c.2943C= (p.Pro981=)
c.2895C= (p.Pro965=)
c.2760C= (p.Pro920=)
c.2896-137C= (n.2896-137C=)
16g.28835986C>GCA494868616ATXN2Lc.2949C>G (p.Pro983=)
c.924C>G (p.Pro308=)
n.3323C>G
c.144C>G (p.Pro48=)
c.2967C>G (p.Pro989=)
c.2013C>G (n.2013C>G)
c.218C>G
c.927C>G (p.Pro309=)
c.469C>G
c.2970C>G (p.Pro990=)
c.2952C>G (p.Pro984=)
c.2790C>G (p.Pro930=)
c.2898C>G (p.Pro966=)
c.2880C>G (p.Pro960=)
c.2604C>G (p.Pro868=)
n.3179C>G
c.2772C>G (p.Pro924=)
c.2586C>G (p.Pro862=)
n.3182C>G
c.2877C>G (p.Pro959=)
c.2943C>G (p.Pro981=)
c.2895C>G (p.Pro965=)
c.2760C>G (p.Pro920=)
c.2896-137C>G (n.2896-137C>G)
16g.28835986C>TCA279230887ATXN2Lc.2949C>T (p.Pro983=)
c.924C>T (p.Pro308=)
n.3323C>T
c.144C>T (p.Pro48=)
c.2967C>T (p.Pro989=)
c.2013C>T (n.2013C>T)
c.218C>T
c.927C>T (p.Pro309=)
c.469C>T
c.2970C>T (p.Pro990=)
c.2952C>T (p.Pro984=)
c.2790C>T (p.Pro930=)
c.2898C>T (p.Pro966=)
c.2880C>T (p.Pro960=)
c.2604C>T (p.Pro868=)
n.3179C>T
c.2772C>T (p.Pro924=)
c.2586C>T (p.Pro862=)
n.3182C>T
c.2877C>T (p.Pro959=)
c.2943C>T (p.Pro981=)
c.2895C>T (p.Pro965=)
c.2760C>T (p.Pro920=)
c.2896-137C>T (n.2896-137C>T)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835987C>ACA395408929ATXN2Lc.2950C>A (p.His984Asn)
c.925C>A (p.His309Asn)
n.3324C>A
c.145C>A (p.His49Asn)
c.2968C>A (p.His990Asn)
c.2014C>A (n.2014C>A)
c.219C>A
c.928C>A (p.His310Asn)
c.470C>A
c.2971C>A (p.His991Asn)
c.2953C>A (p.His985Asn)
c.2791C>A (p.His931Asn)
c.2899C>A (p.His967Asn)
c.2881C>A (p.His961Asn)
c.2605C>A (p.His869Asn)
n.3180C>A
c.2773C>A (p.His925Asn)
c.2587C>A (p.His863Asn)
n.3183C>A
c.2878C>A (p.His960Asn)
c.2944C>A (p.His982Asn)
c.2896C>A (p.His966Asn)
c.2761C>A (p.His921Asn)
c.2896-136C>A (n.2896-136C>A)
16g.28835987C>GCA395408931ATXN2Lc.2950C>G (p.His984Asp)
c.925C>G (p.His309Asp)
n.3324C>G
c.145C>G (p.His49Asp)
c.2968C>G (p.His990Asp)
c.2014C>G (n.2014C>G)
c.219C>G
c.928C>G (p.His310Asp)
c.470C>G
c.2971C>G (p.His991Asp)
c.2953C>G (p.His985Asp)
c.2791C>G (p.His931Asp)
c.2899C>G (p.His967Asp)
c.2881C>G (p.His961Asp)
c.2605C>G (p.His869Asp)
n.3180C>G
c.2773C>G (p.His925Asp)
c.2587C>G (p.His863Asp)
n.3183C>G
c.2878C>G (p.His960Asp)
c.2944C>G (p.His982Asp)
c.2896C>G (p.His966Asp)
c.2761C>G (p.His921Asp)
c.2896-136C>G (n.2896-136C>G)
16g.28835987C>TCA395408932ATXN2Lc.2950C>T (p.His984Tyr)
c.925C>T (p.His309Tyr)
n.3324C>T
c.145C>T (p.His49Tyr)
c.2968C>T (p.His990Tyr)
c.2014C>T (n.2014C>T)
c.219C>T
c.928C>T (p.His310Tyr)
c.470C>T
c.2971C>T (p.His991Tyr)
c.2953C>T (p.His985Tyr)
c.2791C>T (p.His931Tyr)
c.2899C>T (p.His967Tyr)
c.2881C>T (p.His961Tyr)
c.2605C>T (p.His869Tyr)
n.3180C>T
c.2773C>T (p.His925Tyr)
c.2587C>T (p.His863Tyr)
n.3183C>T
c.2878C>T (p.His960Tyr)
c.2944C>T (p.His982Tyr)
c.2896C>T (p.His966Tyr)
c.2761C>T (p.His921Tyr)
c.2896-136C>T (n.2896-136C>T)
16g.28835988A=CA2215806785ATXN2Lc.2951A= (p.His984=)
c.926A= (p.His309=)
n.3325A=
c.146A= (p.His49=)
c.2969A= (p.His990=)
c.2015A= (n.2015A=)
c.220A=
c.929A= (p.His310=)
c.471A=
c.2972A= (p.His991=)
c.2954A= (p.His985=)
c.2792A= (p.His931=)
c.2900A= (p.His967=)
c.2882A= (p.His961=)
c.2606A= (p.His869=)
n.3181A=
c.2774A= (p.His925=)
c.2588A= (p.His863=)
n.3184A=
c.2879A= (p.His960=)
c.2945A= (p.His982=)
c.2897A= (p.His966=)
c.2762A= (p.His921=)
c.2896-135A= (n.2896-135A=)
16g.28835988A>CCA7985146ATXN2Lc.2951A>C (p.His984Pro)
c.926A>C (p.His309Pro)
n.3325A>C
c.146A>C (p.His49Pro)
c.2969A>C (p.His990Pro)
c.2015A>C (n.2015A>C)
c.220A>C
c.929A>C (p.His310Pro)
c.471A>C
c.2972A>C (p.His991Pro)
c.2954A>C (p.His985Pro)
c.2792A>C (p.His931Pro)
c.2900A>C (p.His967Pro)
c.2882A>C (p.His961Pro)
c.2606A>C (p.His869Pro)
n.3181A>C
c.2774A>C (p.His925Pro)
c.2588A>C (p.His863Pro)
n.3184A>C
c.2879A>C (p.His960Pro)
c.2945A>C (p.His982Pro)
c.2897A>C (p.His966Pro)
c.2762A>C (p.His921Pro)
c.2896-135A>C (n.2896-135A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835988A>GCA395408934ATXN2Lc.2951A>G (p.His984Arg)
c.926A>G (p.His309Arg)
n.3325A>G
c.146A>G (p.His49Arg)
c.2969A>G (p.His990Arg)
c.2015A>G (n.2015A>G)
c.220A>G
c.929A>G (p.His310Arg)
c.471A>G
c.2972A>G (p.His991Arg)
c.2954A>G (p.His985Arg)
c.2792A>G (p.His931Arg)
c.2900A>G (p.His967Arg)
c.2882A>G (p.His961Arg)
c.2606A>G (p.His869Arg)
n.3181A>G
c.2774A>G (p.His925Arg)
c.2588A>G (p.His863Arg)
n.3184A>G
c.2879A>G (p.His960Arg)
c.2945A>G (p.His982Arg)
c.2897A>G (p.His966Arg)
c.2762A>G (p.His921Arg)
c.2896-135A>G (n.2896-135A>G)
16g.28835988A>TCA395408935ATXN2Lc.2951A>T (p.His984Leu)
c.926A>T (p.His309Leu)
n.3325A>T
c.146A>T (p.His49Leu)
c.2969A>T (p.His990Leu)
c.2015A>T (n.2015A>T)
c.220A>T
c.929A>T (p.His310Leu)
c.471A>T
c.2972A>T (p.His991Leu)
c.2954A>T (p.His985Leu)
c.2792A>T (p.His931Leu)
c.2900A>T (p.His967Leu)
c.2882A>T (p.His961Leu)
c.2606A>T (p.His869Leu)
n.3181A>T
c.2774A>T (p.His925Leu)
c.2588A>T (p.His863Leu)
n.3184A>T
c.2879A>T (p.His960Leu)
c.2945A>T (p.His982Leu)
c.2897A>T (p.His966Leu)
c.2762A>T (p.His921Leu)
c.2896-135A>T (n.2896-135A>T)
16g.28835989C>ACA395408937ATXN2Lc.2952C>A (p.His984Gln)
c.927C>A (p.His309Gln)
n.3326C>A
c.147C>A (p.His49Gln)
c.2970C>A (p.His990Gln)
c.2016C>A (n.2016C>A)
c.221C>A
c.930C>A (p.His310Gln)
c.472C>A
c.2973C>A (p.His991Gln)
c.2955C>A (p.His985Gln)
c.2793C>A (p.His931Gln)
c.2901C>A (p.His967Gln)
c.2883C>A (p.His961Gln)
c.2607C>A (p.His869Gln)
n.3182C>A
c.2775C>A (p.His925Gln)
c.2589C>A (p.His863Gln)
n.3185C>A
c.2880C>A (p.His960Gln)
c.2946C>A (p.His982Gln)
c.2898C>A (p.His966Gln)
c.2763C>A (p.His921Gln)
c.2896-134C>A (n.2896-134C>A)
 gnomAD v4
16g.28835989C>GCA395408939ATXN2Lc.2952C>G (p.His984Gln)
c.927C>G (p.His309Gln)
n.3326C>G
c.147C>G (p.His49Gln)
c.2970C>G (p.His990Gln)
c.2016C>G (n.2016C>G)
c.221C>G
c.930C>G (p.His310Gln)
c.472C>G
c.2973C>G (p.His991Gln)
c.2955C>G (p.His985Gln)
c.2793C>G (p.His931Gln)
c.2901C>G (p.His967Gln)
c.2883C>G (p.His961Gln)
c.2607C>G (p.His869Gln)
n.3182C>G
c.2775C>G (p.His925Gln)
c.2589C>G (p.His863Gln)
n.3185C>G
c.2880C>G (p.His960Gln)
c.2946C>G (p.His982Gln)
c.2898C>G (p.His966Gln)
c.2763C>G (p.His921Gln)
c.2896-134C>G (n.2896-134C>G)
16g.28835989C>TCA494868649ATXN2Lc.2952C>T (p.His984=)
c.927C>T (p.His309=)
n.3326C>T
c.147C>T (p.His49=)
c.2970C>T (p.His990=)
c.2016C>T (n.2016C>T)
c.221C>T
c.930C>T (p.His310=)
c.472C>T
c.2973C>T (p.His991=)
c.2955C>T (p.His985=)
c.2793C>T (p.His931=)
c.2901C>T (p.His967=)
c.2883C>T (p.His961=)
c.2607C>T (p.His869=)
n.3182C>T
c.2775C>T (p.His925=)
c.2589C>T (p.His863=)
n.3185C>T
c.2880C>T (p.His960=)
c.2946C>T (p.His982=)
c.2898C>T (p.His966=)
c.2763C>T (p.His921=)
c.2896-134C>T (n.2896-134C>T)
 gnomAD v4
16g.28835990C>ACA395408941ATXN2Lc.2953C>A (p.Pro985Thr)
c.928C>A (p.Pro310Thr)
n.3327C>A
c.148C>A (p.Pro50Thr)
c.2971C>A (p.Pro991Thr)
c.2017C>A (n.2017C>A)
c.222C>A
c.931C>A (p.Pro311Thr)
c.473C>A
c.2974C>A (p.Pro992Thr)
c.2956C>A (p.Pro986Thr)
c.2794C>A (p.Pro932Thr)
c.2902C>A (p.Pro968Thr)
c.2884C>A (p.Pro962Thr)
c.2608C>A (p.Pro870Thr)
n.3183C>A
c.2776C>A (p.Pro926Thr)
c.2590C>A (p.Pro864Thr)
n.3186C>A
c.2881C>A (p.Pro961Thr)
c.2947C>A (p.Pro983Thr)
c.2899C>A (p.Pro967Thr)
c.2764C>A (p.Pro922Thr)
c.2896-133C>A (n.2896-133C>A)
16g.28835990C>GCA395408942ATXN2Lc.2953C>G (p.Pro985Ala)
c.928C>G (p.Pro310Ala)
n.3327C>G
c.148C>G (p.Pro50Ala)
c.2971C>G (p.Pro991Ala)
c.2017C>G (n.2017C>G)
c.222C>G
c.931C>G (p.Pro311Ala)
c.473C>G
c.2974C>G (p.Pro992Ala)
c.2956C>G (p.Pro986Ala)
c.2794C>G (p.Pro932Ala)
c.2902C>G (p.Pro968Ala)
c.2884C>G (p.Pro962Ala)
c.2608C>G (p.Pro870Ala)
n.3183C>G
c.2776C>G (p.Pro926Ala)
c.2590C>G (p.Pro864Ala)
n.3186C>G
c.2881C>G (p.Pro961Ala)
c.2947C>G (p.Pro983Ala)
c.2899C>G (p.Pro967Ala)
c.2764C>G (p.Pro922Ala)
c.2896-133C>G (n.2896-133C>G)
16g.28835990C>TCA395408944ATXN2Lc.2953C>T (p.Pro985Ser)
c.928C>T (p.Pro310Ser)
n.3327C>T
c.148C>T (p.Pro50Ser)
c.2971C>T (p.Pro991Ser)
c.2017C>T (n.2017C>T)
c.222C>T
c.931C>T (p.Pro311Ser)
c.473C>T
c.2974C>T (p.Pro992Ser)
c.2956C>T (p.Pro986Ser)
c.2794C>T (p.Pro932Ser)
c.2902C>T (p.Pro968Ser)
c.2884C>T (p.Pro962Ser)
c.2608C>T (p.Pro870Ser)
n.3183C>T
c.2776C>T (p.Pro926Ser)
c.2590C>T (p.Pro864Ser)
n.3186C>T
c.2881C>T (p.Pro961Ser)
c.2947C>T (p.Pro983Ser)
c.2899C>T (p.Pro967Ser)
c.2764C>T (p.Pro922Ser)
c.2896-133C>T (n.2896-133C>T)
 gnomAD v4
16g.28835991C>ACA395408946ATXN2Lc.2954C>A (p.Pro985Gln)
c.929C>A (p.Pro310Gln)
n.3328C>A
c.149C>A (p.Pro50Gln)
c.2972C>A (p.Pro991Gln)
c.2018C>A (n.2018C>A)
c.223C>A
c.932C>A (p.Pro311Gln)
c.474C>A
c.2975C>A (p.Pro992Gln)
c.2957C>A (p.Pro986Gln)
c.2795C>A (p.Pro932Gln)
c.2903C>A (p.Pro968Gln)
c.2885C>A (p.Pro962Gln)
c.2609C>A (p.Pro870Gln)
n.3184C>A
c.2777C>A (p.Pro926Gln)
c.2591C>A (p.Pro864Gln)
n.3187C>A
c.2882C>A (p.Pro961Gln)
c.2948C>A (p.Pro983Gln)
c.2900C>A (p.Pro967Gln)
c.2765C>A (p.Pro922Gln)
c.2896-132C>A (n.2896-132C>A)
 gnomAD v4
16g.28835991C=CA2215806788ATXN2Lc.2954C= (p.Pro985=)
c.929C= (p.Pro310=)
n.3328C=
c.149C= (p.Pro50=)
c.2972C= (p.Pro991=)
c.2018C= (n.2018C=)
c.223C=
c.932C= (p.Pro311=)
c.474C=
c.2975C= (p.Pro992=)
c.2957C= (p.Pro986=)
c.2795C= (p.Pro932=)
c.2903C= (p.Pro968=)
c.2885C= (p.Pro962=)
c.2609C= (p.Pro870=)
n.3184C=
c.2777C= (p.Pro926=)
c.2591C= (p.Pro864=)
n.3187C=
c.2882C= (p.Pro961=)
c.2948C= (p.Pro983=)
c.2900C= (p.Pro967=)
c.2765C= (p.Pro922=)
c.2896-132C= (n.2896-132C=)
16g.28835991C>GCA395408945ATXN2Lc.2954C>G (p.Pro985Arg)
c.929C>G (p.Pro310Arg)
n.3328C>G
c.149C>G (p.Pro50Arg)
c.2972C>G (p.Pro991Arg)
c.2018C>G (n.2018C>G)
c.223C>G
c.932C>G (p.Pro311Arg)
c.474C>G
c.2975C>G (p.Pro992Arg)
c.2957C>G (p.Pro986Arg)
c.2795C>G (p.Pro932Arg)
c.2903C>G (p.Pro968Arg)
c.2885C>G (p.Pro962Arg)
c.2609C>G (p.Pro870Arg)
n.3184C>G
c.2777C>G (p.Pro926Arg)
c.2591C>G (p.Pro864Arg)
n.3187C>G
c.2882C>G (p.Pro961Arg)
c.2948C>G (p.Pro983Arg)
c.2900C>G (p.Pro967Arg)
c.2765C>G (p.Pro922Arg)
c.2896-132C>G (n.2896-132C>G)
16g.28835991C>TCA7985147ATXN2Lc.2954C>T (p.Pro985Leu)
c.929C>T (p.Pro310Leu)
n.3328C>T
c.149C>T (p.Pro50Leu)
c.2972C>T (p.Pro991Leu)
c.2018C>T (n.2018C>T)
c.223C>T
c.932C>T (p.Pro311Leu)
c.474C>T
c.2975C>T (p.Pro992Leu)
c.2957C>T (p.Pro986Leu)
c.2795C>T (p.Pro932Leu)
c.2903C>T (p.Pro968Leu)
c.2885C>T (p.Pro962Leu)
c.2609C>T (p.Pro870Leu)
n.3184C>T
c.2777C>T (p.Pro926Leu)
c.2591C>T (p.Pro864Leu)
n.3187C>T
c.2882C>T (p.Pro961Leu)
c.2948C>T (p.Pro983Leu)
c.2900C>T (p.Pro967Leu)
c.2765C>T (p.Pro922Leu)
c.2896-132C>T (n.2896-132C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835992G>ACA7985149ATXN2Lc.2955G>A (p.Pro985=)
c.930G>A (p.Pro310=)
n.3329G>A
c.150G>A (p.Pro50=)
c.2973G>A (p.Pro991=)
c.2019G>A (n.2019G>A)
c.224G>A
c.933G>A (p.Pro311=)
c.475G>A
c.2976G>A (p.Pro992=)
c.2958G>A (p.Pro986=)
c.2796G>A (p.Pro932=)
c.2904G>A (p.Pro968=)
c.2886G>A (p.Pro962=)
c.2610G>A (p.Pro870=)
n.3185G>A
c.2778G>A (p.Pro926=)
c.2592G>A (p.Pro864=)
n.3188G>A
c.2883G>A (p.Pro961=)
c.2949G>A (p.Pro983=)
c.2901G>A (p.Pro967=)
c.2766G>A (p.Pro922=)
c.2896-131G>A (n.2896-131G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835992G>CCA7985148ATXN2Lc.2955G>C (p.Pro985=)
c.930G>C (p.Pro310=)
n.3329G>C
c.150G>C (p.Pro50=)
c.2973G>C (p.Pro991=)
c.2019G>C (n.2019G>C)
c.224G>C
c.933G>C (p.Pro311=)
c.475G>C
c.2976G>C (p.Pro992=)
c.2958G>C (p.Pro986=)
c.2796G>C (p.Pro932=)
c.2904G>C (p.Pro968=)
c.2886G>C (p.Pro962=)
c.2610G>C (p.Pro870=)
n.3185G>C
c.2778G>C (p.Pro926=)
c.2592G>C (p.Pro864=)
n.3188G>C
c.2883G>C (p.Pro961=)
c.2949G>C (p.Pro983=)
c.2901G>C (p.Pro967=)
c.2766G>C (p.Pro922=)
c.2896-131G>C (n.2896-131G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835992G=CA2215806791ATXN2Lc.2955G= (p.Pro985=)
c.930G= (p.Pro310=)
n.3329G=
c.150G= (p.Pro50=)
c.2973G= (p.Pro991=)
c.2019G= (n.2019G=)
c.224G=
c.933G= (p.Pro311=)
c.475G=
c.2976G= (p.Pro992=)
c.2958G= (p.Pro986=)
c.2796G= (p.Pro932=)
c.2904G= (p.Pro968=)
c.2886G= (p.Pro962=)
c.2610G= (p.Pro870=)
n.3185G=
c.2778G= (p.Pro926=)
c.2592G= (p.Pro864=)
n.3188G=
c.2883G= (p.Pro961=)
c.2949G= (p.Pro983=)
c.2901G= (p.Pro967=)
c.2766G= (p.Pro922=)
c.2896-131G= (n.2896-131G=)
16g.28835992G>TCA494868696ATXN2Lc.2955G>T (p.Pro985=)
c.930G>T (p.Pro310=)
n.3329G>T
c.150G>T (p.Pro50=)
c.2973G>T (p.Pro991=)
c.2019G>T (n.2019G>T)
c.224G>T
c.933G>T (p.Pro311=)
c.475G>T
c.2976G>T (p.Pro992=)
c.2958G>T (p.Pro986=)
c.2796G>T (p.Pro932=)
c.2904G>T (p.Pro968=)
c.2886G>T (p.Pro962=)
c.2610G>T (p.Pro870=)
n.3185G>T
c.2778G>T (p.Pro926=)
c.2592G>T (p.Pro864=)
n.3188G>T
c.2883G>T (p.Pro961=)
c.2949G>T (p.Pro983=)
c.2901G>T (p.Pro967=)
c.2766G>T (p.Pro922=)
c.2896-131G>T (n.2896-131G>T)
 gnomAD v4
16g.28835993C>ACA395408950ATXN2Lc.2956C>A (p.Pro986Thr)
c.931C>A (p.Pro311Thr)
n.3330C>A
c.151C>A (p.Pro51Thr)
c.2974C>A (p.Pro992Thr)
c.2020C>A (n.2020C>A)
c.225C>A
c.934C>A (p.Pro312Thr)
c.476C>A
c.2977C>A (p.Pro993Thr)
c.2959C>A (p.Pro987Thr)
c.2797C>A (p.Pro933Thr)
c.2905C>A (p.Pro969Thr)
c.2887C>A (p.Pro963Thr)
c.2611C>A (p.Pro871Thr)
n.3186C>A
c.2779C>A (p.Pro927Thr)
c.2593C>A (p.Pro865Thr)
n.3189C>A
c.2884C>A (p.Pro962Thr)
c.2950C>A (p.Pro984Thr)
c.2902C>A (p.Pro968Thr)
c.2767C>A (p.Pro923Thr)
c.2896-130C>A (n.2896-130C>A)
16g.28835993C=CA2215806792ATXN2Lc.2956C= (p.Pro986=)
c.931C= (p.Pro311=)
n.3330C=
c.151C= (p.Pro51=)
c.2974C= (p.Pro992=)
c.2020C= (n.2020C=)
c.225C=
c.934C= (p.Pro312=)
c.476C=
c.2977C= (p.Pro993=)
c.2959C= (p.Pro987=)
c.2797C= (p.Pro933=)
c.2905C= (p.Pro969=)
c.2887C= (p.Pro963=)
c.2611C= (p.Pro871=)
n.3186C=
c.2779C= (p.Pro927=)
c.2593C= (p.Pro865=)
n.3189C=
c.2884C= (p.Pro962=)
c.2950C= (p.Pro984=)
c.2902C= (p.Pro968=)
c.2767C= (p.Pro923=)
c.2896-130C= (n.2896-130C=)
16g.28835993C>GCA395408952ATXN2Lc.2956C>G (p.Pro986Ala)
c.931C>G (p.Pro311Ala)
n.3330C>G
c.151C>G (p.Pro51Ala)
c.2974C>G (p.Pro992Ala)
c.2020C>G (n.2020C>G)
c.225C>G
c.934C>G (p.Pro312Ala)
c.476C>G
c.2977C>G (p.Pro993Ala)
c.2959C>G (p.Pro987Ala)
c.2797C>G (p.Pro933Ala)
c.2905C>G (p.Pro969Ala)
c.2887C>G (p.Pro963Ala)
c.2611C>G (p.Pro871Ala)
n.3186C>G
c.2779C>G (p.Pro927Ala)
c.2593C>G (p.Pro865Ala)
n.3189C>G
c.2884C>G (p.Pro962Ala)
c.2950C>G (p.Pro984Ala)
c.2902C>G (p.Pro968Ala)
c.2767C>G (p.Pro923Ala)
c.2896-130C>G (n.2896-130C>G)
16g.28835993C>TCA279230895ATXN2Lc.2956C>T (p.Pro986Ser)
c.931C>T (p.Pro311Ser)
n.3330C>T
c.151C>T (p.Pro51Ser)
c.2974C>T (p.Pro992Ser)
c.2020C>T (n.2020C>T)
c.225C>T
c.934C>T (p.Pro312Ser)
c.476C>T
c.2977C>T (p.Pro993Ser)
c.2959C>T (p.Pro987Ser)
c.2797C>T (p.Pro933Ser)
c.2905C>T (p.Pro969Ser)
c.2887C>T (p.Pro963Ser)
c.2611C>T (p.Pro871Ser)
n.3186C>T
c.2779C>T (p.Pro927Ser)
c.2593C>T (p.Pro865Ser)
n.3189C>T
c.2884C>T (p.Pro962Ser)
c.2950C>T (p.Pro984Ser)
c.2902C>T (p.Pro968Ser)
c.2767C>T (p.Pro923Ser)
c.2896-130C>T (n.2896-130C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835996delCA2632529164ATXN2Lc.2959del (p.Gln987ArgfsTer2)
c.934del (p.Gln312ArgfsTer2)
n.3333del
c.154del (p.Gln52ArgfsTer2)
c.2977del (p.Gln993ArgfsTer2)
c.2023del (n.2023del)
c.228del
c.937del (p.Gln313ArgfsTer2)
c.479del
c.2980del (p.Gln994ArgfsTer2)
c.2962del (p.Gln988ArgfsTer2)
c.2800del (p.Gln934ArgfsTer2)
c.2908del (p.Gln970ArgfsTer2)
c.2890del (p.Gln964ArgfsTer2)
c.2614del (p.Gln872ArgfsTer2)
n.3189del
c.2782del (p.Gln928ArgfsTer2)
c.2596del (p.Gln866ArgfsTer2)
n.3192del
c.2887del (p.Gln963ArgfsTer2)
c.2953del (p.Gln985ArgfsTer2)
c.2905del (p.Gln969ArgfsTer2)
c.2770del (p.Gln924ArgfsTer2)
c.2896-127del (n.2896-127del)
 gnomAD v4
16g.28835994C>ACA395408955ATXN2Lc.2957C>A (p.Pro986His)
c.932C>A (p.Pro311His)
n.3331C>A
c.152C>A (p.Pro51His)
c.2975C>A (p.Pro992His)
c.2021C>A (n.2021C>A)
c.226C>A
c.935C>A (p.Pro312His)
c.477C>A
c.2978C>A (p.Pro993His)
c.2960C>A (p.Pro987His)
c.2798C>A (p.Pro933His)
c.2906C>A (p.Pro969His)
c.2888C>A (p.Pro963His)
c.2612C>A (p.Pro871His)
n.3187C>A
c.2780C>A (p.Pro927His)
c.2594C>A (p.Pro865His)
n.3190C>A
c.2885C>A (p.Pro962His)
c.2951C>A (p.Pro984His)
c.2903C>A (p.Pro968His)
c.2768C>A (p.Pro923His)
c.2896-129C>A (n.2896-129C>A)
16g.28835994C>GCA395408957ATXN2Lc.2957C>G (p.Pro986Arg)
c.932C>G (p.Pro311Arg)
n.3331C>G
c.152C>G (p.Pro51Arg)
c.2975C>G (p.Pro992Arg)
c.2021C>G (n.2021C>G)
c.226C>G
c.935C>G (p.Pro312Arg)
c.477C>G
c.2978C>G (p.Pro993Arg)
c.2960C>G (p.Pro987Arg)
c.2798C>G (p.Pro933Arg)
c.2906C>G (p.Pro969Arg)
c.2888C>G (p.Pro963Arg)
c.2612C>G (p.Pro871Arg)
n.3187C>G
c.2780C>G (p.Pro927Arg)
c.2594C>G (p.Pro865Arg)
n.3190C>G
c.2885C>G (p.Pro962Arg)
c.2951C>G (p.Pro984Arg)
c.2903C>G (p.Pro968Arg)
c.2768C>G (p.Pro923Arg)
c.2896-129C>G (n.2896-129C>G)
16g.28835994C>TCA395408959ATXN2Lc.2957C>T (p.Pro986Leu)
c.932C>T (p.Pro311Leu)
n.3331C>T
c.152C>T (p.Pro51Leu)
c.2975C>T (p.Pro992Leu)
c.2021C>T (n.2021C>T)
c.226C>T
c.935C>T (p.Pro312Leu)
c.477C>T
c.2978C>T (p.Pro993Leu)
c.2960C>T (p.Pro987Leu)
c.2798C>T (p.Pro933Leu)
c.2906C>T (p.Pro969Leu)
c.2888C>T (p.Pro963Leu)
c.2612C>T (p.Pro871Leu)
n.3187C>T
c.2780C>T (p.Pro927Leu)
c.2594C>T (p.Pro865Leu)
n.3190C>T
c.2885C>T (p.Pro962Leu)
c.2951C>T (p.Pro984Leu)
c.2903C>T (p.Pro968Leu)
c.2768C>T (p.Pro923Leu)
c.2896-129C>T (n.2896-129C>T)
16g.28835995C>ACA494868728ATXN2Lc.2958C>A (p.Pro986=)
c.933C>A (p.Pro311=)
n.3332C>A
c.153C>A (p.Pro51=)
c.2976C>A (p.Pro992=)
c.2022C>A (n.2022C>A)
c.227C>A
c.936C>A (p.Pro312=)
c.478C>A
c.2979C>A (p.Pro993=)
c.2961C>A (p.Pro987=)
c.2799C>A (p.Pro933=)
c.2907C>A (p.Pro969=)
c.2889C>A (p.Pro963=)
c.2613C>A (p.Pro871=)
n.3188C>A
c.2781C>A (p.Pro927=)
c.2595C>A (p.Pro865=)
n.3191C>A
c.2886C>A (p.Pro962=)
c.2952C>A (p.Pro984=)
c.2904C>A (p.Pro968=)
c.2769C>A (p.Pro923=)
c.2896-128C>A (n.2896-128C>A)
16g.28835995C>GCA494868731ATXN2Lc.2958C>G (p.Pro986=)
c.933C>G (p.Pro311=)
n.3332C>G
c.153C>G (p.Pro51=)
c.2976C>G (p.Pro992=)
c.2022C>G (n.2022C>G)
c.227C>G
c.936C>G (p.Pro312=)
c.478C>G
c.2979C>G (p.Pro993=)
c.2961C>G (p.Pro987=)
c.2799C>G (p.Pro933=)
c.2907C>G (p.Pro969=)
c.2889C>G (p.Pro963=)
c.2613C>G (p.Pro871=)
n.3188C>G
c.2781C>G (p.Pro927=)
c.2595C>G (p.Pro865=)
n.3191C>G
c.2886C>G (p.Pro962=)
c.2952C>G (p.Pro984=)
c.2904C>G (p.Pro968=)
c.2769C>G (p.Pro923=)
c.2896-128C>G (n.2896-128C>G)
 COSMIC COSMIC
16g.28835995C>TCA494868732ATXN2Lc.2958C>T (p.Pro986=)
c.933C>T (p.Pro311=)
n.3332C>T
c.153C>T (p.Pro51=)
c.2976C>T (p.Pro992=)
c.2022C>T (n.2022C>T)
c.227C>T
c.936C>T (p.Pro312=)
c.478C>T
c.2979C>T (p.Pro993=)
c.2961C>T (p.Pro987=)
c.2799C>T (p.Pro933=)
c.2907C>T (p.Pro969=)
c.2889C>T (p.Pro963=)
c.2613C>T (p.Pro871=)
n.3188C>T
c.2781C>T (p.Pro927=)
c.2595C>T (p.Pro865=)
n.3191C>T
c.2886C>T (p.Pro962=)
c.2952C>T (p.Pro984=)
c.2904C>T (p.Pro968=)
c.2769C>T (p.Pro923=)
c.2896-128C>T (n.2896-128C>T)
 gnomAD v4
16g.28835996C>ACA395408961ATXN2Lc.2959C>A (p.Gln987Lys)
c.934C>A (p.Gln312Lys)
n.3333C>A
c.154C>A (p.Gln52Lys)
c.2977C>A (p.Gln993Lys)
c.2023C>A (n.2023C>A)
c.228C>A
c.937C>A (p.Gln313Lys)
c.479C>A
c.2980C>A (p.Gln994Lys)
c.2962C>A (p.Gln988Lys)
c.2800C>A (p.Gln934Lys)
c.2908C>A (p.Gln970Lys)
c.2890C>A (p.Gln964Lys)
c.2614C>A (p.Gln872Lys)
n.3189C>A
c.2782C>A (p.Gln928Lys)
c.2596C>A (p.Gln866Lys)
n.3192C>A
c.2887C>A (p.Gln963Lys)
c.2953C>A (p.Gln985Lys)
c.2905C>A (p.Gln969Lys)
c.2770C>A (p.Gln924Lys)
c.2896-127C>A (n.2896-127C>A)
16g.28835996C=CA2215806793ATXN2Lc.2959C= (p.Gln987=)
c.934C= (p.Gln312=)
n.3333C=
c.154C= (p.Gln52=)
c.2977C= (p.Gln993=)
c.2023C= (n.2023C=)
c.228C=
c.937C= (p.Gln313=)
c.479C=
c.2980C= (p.Gln994=)
c.2962C= (p.Gln988=)
c.2800C= (p.Gln934=)
c.2908C= (p.Gln970=)
c.2890C= (p.Gln964=)
c.2614C= (p.Gln872=)
n.3189C=
c.2782C= (p.Gln928=)
c.2596C= (p.Gln866=)
n.3192C=
c.2887C= (p.Gln963=)
c.2953C= (p.Gln985=)
c.2905C= (p.Gln969=)
c.2770C= (p.Gln924=)
c.2896-127C= (n.2896-127C=)
16g.28835996C>GCA395408963ATXN2Lc.2959C>G (p.Gln987Glu)
c.934C>G (p.Gln312Glu)
n.3333C>G
c.154C>G (p.Gln52Glu)
c.2977C>G (p.Gln993Glu)
c.2023C>G (n.2023C>G)
c.228C>G
c.937C>G (p.Gln313Glu)
c.479C>G
c.2980C>G (p.Gln994Glu)
c.2962C>G (p.Gln988Glu)
c.2800C>G (p.Gln934Glu)
c.2908C>G (p.Gln970Glu)
c.2890C>G (p.Gln964Glu)
c.2614C>G (p.Gln872Glu)
n.3189C>G
c.2782C>G (p.Gln928Glu)
c.2596C>G (p.Gln866Glu)
n.3192C>G
c.2887C>G (p.Gln963Glu)
c.2953C>G (p.Gln985Glu)
c.2905C>G (p.Gln969Glu)
c.2770C>G (p.Gln924Glu)
c.2896-127C>G (n.2896-127C>G)
16g.28835996C>TCA395408965ATXN2Lc.2959C>T (p.Gln987Ter)
c.934C>T (p.Gln312Ter)
n.3333C>T
c.154C>T (p.Gln52Ter)
c.2977C>T (p.Gln993Ter)
c.2023C>T (n.2023C>T)
c.228C>T
c.937C>T (p.Gln313Ter)
c.479C>T
c.2980C>T (p.Gln994Ter)
c.2962C>T (p.Gln988Ter)
c.2800C>T (p.Gln934Ter)
c.2908C>T (p.Gln970Ter)
c.2890C>T (p.Gln964Ter)
c.2614C>T (p.Gln872Ter)
n.3189C>T
c.2782C>T (p.Gln928Ter)
c.2596C>T (p.Gln866Ter)
n.3192C>T
c.2887C>T (p.Gln963Ter)
c.2953C>T (p.Gln985Ter)
c.2905C>T (p.Gln969Ter)
c.2770C>T (p.Gln924Ter)
c.2896-127C>T (n.2896-127C>T)
 dbSNP
16g.28835996_28835997insCGCA2632529167ATXN2Lc.2959_2960insCG (p.Gln987ProfsTer3)
c.934_935insCG (p.Gln312ProfsTer3)
n.3333_3334insCG
c.154_155insCG (p.Gln52ProfsTer3)
c.2977_2978insCG (p.Gln993ProfsTer3)
c.2023_2024insCG (n.2023_2024insCG)
c.228_229insCG
c.937_938insCG (p.Gln313ProfsTer3)
c.479_480insCG
c.2980_2981insCG (p.Gln994ProfsTer3)
c.2962_2963insCG (p.Gln988ProfsTer3)
c.2800_2801insCG (p.Gln934ProfsTer3)
c.2908_2909insCG (p.Gln970ProfsTer3)
c.2890_2891insCG (p.Gln964ProfsTer3)
c.2614_2615insCG (p.Gln872ProfsTer3)
n.3189_3190insCG
c.2782_2783insCG (p.Gln928ProfsTer3)
c.2596_2597insCG (p.Gln866ProfsTer3)
n.3192_3193insCG
c.2887_2888insCG (p.Gln963ProfsTer3)
c.2953_2954insCG (p.Gln985ProfsTer3)
c.2905_2906insCG (p.Gln969ProfsTer3)
c.2770_2771insCG (p.Gln924ProfsTer3)
c.2896-127_2896-126insCG (n.2896-127_2896-126insCG)
 gnomAD v4
16g.28835996_28835997insCCGCA2593659549ATXN2Lc.2959_2960insCCG (p.Gln987delinsProGlu)
c.934_935insCCG (p.Gln312delinsProGlu)
n.3333_3334insCCG
c.154_155insCCG (p.Gln52delinsProGlu)
c.2977_2978insCCG (p.Gln993delinsProGlu)
c.2023_2024insCCG (n.2023_2024insCCG)
c.228_229insCCG
c.937_938insCCG (p.Gln313delinsProGlu)
c.479_480insCCG
c.2980_2981insCCG (p.Gln994delinsProGlu)
c.2962_2963insCCG (p.Gln988delinsProGlu)
c.2800_2801insCCG (p.Gln934delinsProGlu)
c.2908_2909insCCG (p.Gln970delinsProGlu)
c.2890_2891insCCG (p.Gln964delinsProGlu)
c.2614_2615insCCG (p.Gln872delinsProGlu)
n.3189_3190insCCG
c.2782_2783insCCG (p.Gln928delinsProGlu)
c.2596_2597insCCG (p.Gln866delinsProGlu)
n.3192_3193insCCG
c.2887_2888insCCG (p.Gln963delinsProGlu)
c.2953_2954insCCG (p.Gln985delinsProGlu)
c.2905_2906insCCG (p.Gln969delinsProGlu)
c.2770_2771insCCG (p.Gln924delinsProGlu)
c.2896-127_2896-126insCCG (n.2896-127_2896-126insCCG)
 gnomAD v3 gnomAD v4
16g.28835996_28835997insCGGGGTTCA2632529168ATXN2Lc.2959_2960insCGGGGTT (p.Gln987ProfsTer?)
c.934_935insCGGGGTT (p.Gln312ProfsTer?)
n.3333_3334insCGGGGTT
c.154_155insCGGGGTT (p.Gln52ProfsTer?)
c.2977_2978insCGGGGTT (p.Gln993ProfsTer?)
c.2023_2024insCGGGGTT (n.2023_2024insCGGGGTT)
c.228_229insCGGGGTT
c.937_938insCGGGGTT (p.Gln313ProfsTer?)
c.479_480insCGGGGTT
c.2980_2981insCGGGGTT (p.Gln994ProfsTer?)
c.2962_2963insCGGGGTT (p.Gln988ProfsTer?)
c.2800_2801insCGGGGTT (p.Gln934ProfsTer?)
c.2908_2909insCGGGGTT (p.Gln970ProfsTer?)
c.2890_2891insCGGGGTT (p.Gln964ProfsTer?)
c.2614_2615insCGGGGTT (p.Gln872ProfsTer?)
n.3189_3190insCGGGGTT
c.2782_2783insCGGGGTT (p.Gln928ProfsTer?)
c.2596_2597insCGGGGTT (p.Gln866ProfsTer?)
n.3192_3193insCGGGGTT
c.2887_2888insCGGGGTT (p.Gln963ProfsTer?)
c.2953_2954insCGGGGTT (p.Gln985ProfsTer?)
c.2905_2906insCGGGGTT (p.Gln969ProfsTer?)
c.2770_2771insCGGGGTT (p.Gln924ProfsTer?)
c.2896-127_2896-126insCGGGGTT (n.2896-127_2896-126insCGGGGTT)
 gnomAD v4
16g.28835996_28835997insCCGGGGTTCA2806421857ATXN2Lc.2959_2960insCCGGGGTT (p.Gln987ProfsTer5)
c.934_935insCCGGGGTT (p.Gln312ProfsTer5)
n.3333_3334insCCGGGGTT
c.154_155insCCGGGGTT (p.Gln52ProfsTer5)
c.2977_2978insCCGGGGTT (p.Gln993ProfsTer5)
c.2023_2024insCCGGGGTT (n.2023_2024insCCGGGGTT)
c.228_229insCCGGGGTT
c.937_938insCCGGGGTT (p.Gln313ProfsTer5)
c.479_480insCCGGGGTT
c.2980_2981insCCGGGGTT (p.Gln994ProfsTer5)
c.2962_2963insCCGGGGTT (p.Gln988ProfsTer5)
c.2800_2801insCCGGGGTT (p.Gln934ProfsTer5)
c.2908_2909insCCGGGGTT (p.Gln970ProfsTer5)
c.2890_2891insCCGGGGTT (p.Gln964ProfsTer5)
c.2614_2615insCCGGGGTT (p.Gln872ProfsTer5)
n.3189_3190insCCGGGGTT
c.2782_2783insCCGGGGTT (p.Gln928ProfsTer5)
c.2596_2597insCCGGGGTT (p.Gln866ProfsTer5)
n.3192_3193insCCGGGGTT
c.2887_2888insCCGGGGTT (p.Gln963ProfsTer5)
c.2953_2954insCCGGGGTT (p.Gln985ProfsTer5)
c.2905_2906insCCGGGGTT (p.Gln969ProfsTer5)
c.2770_2771insCCGGGGTT (p.Gln924ProfsTer5)
c.2896-127_2896-126insCCGGGGTT (n.2896-127_2896-126insCCGGGGTT)
16g.28835997A=CA2215806794ATXN2Lc.2960A= (p.Gln987=)
c.935A= (p.Gln312=)
n.3334A=
c.155A= (p.Gln52=)
c.2978A= (p.Gln993=)
c.2024A= (n.2024A=)
c.229A=
c.938A= (p.Gln313=)
c.480A=
c.2981A= (p.Gln994=)
c.2963A= (p.Gln988=)
c.2801A= (p.Gln934=)
c.2909A= (p.Gln970=)
c.2891A= (p.Gln964=)
c.2615A= (p.Gln872=)
n.3190A=
c.2783A= (p.Gln928=)
c.2597A= (p.Gln866=)
n.3193A=
c.2888A= (p.Gln963=)
c.2954A= (p.Gln985=)
c.2906A= (p.Gln969=)
c.2771A= (p.Gln924=)
c.2896-126A= (n.2896-126A=)
16g.28835997A>CCA395408970ATXN2Lc.2960A>C (p.Gln987Pro)
c.935A>C (p.Gln312Pro)
n.3334A>C
c.155A>C (p.Gln52Pro)
c.2978A>C (p.Gln993Pro)
c.2024A>C (n.2024A>C)
c.229A>C
c.938A>C (p.Gln313Pro)
c.480A>C
c.2981A>C (p.Gln994Pro)
c.2963A>C (p.Gln988Pro)
c.2801A>C (p.Gln934Pro)
c.2909A>C (p.Gln970Pro)
c.2891A>C (p.Gln964Pro)
c.2615A>C (p.Gln872Pro)
n.3190A>C
c.2783A>C (p.Gln928Pro)
c.2597A>C (p.Gln866Pro)
n.3193A>C
c.2888A>C (p.Gln963Pro)
c.2954A>C (p.Gln985Pro)
c.2906A>C (p.Gln969Pro)
c.2771A>C (p.Gln924Pro)
c.2896-126A>C (n.2896-126A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28835997A>GCA395408969ATXN2Lc.2960A>G (p.Gln987Arg)
c.935A>G (p.Gln312Arg)
n.3334A>G
c.155A>G (p.Gln52Arg)
c.2978A>G (p.Gln993Arg)
c.2024A>G (n.2024A>G)
c.229A>G
c.938A>G (p.Gln313Arg)
c.480A>G
c.2981A>G (p.Gln994Arg)
c.2963A>G (p.Gln988Arg)
c.2801A>G (p.Gln934Arg)
c.2909A>G (p.Gln970Arg)
c.2891A>G (p.Gln964Arg)
c.2615A>G (p.Gln872Arg)
n.3190A>G
c.2783A>G (p.Gln928Arg)
c.2597A>G (p.Gln866Arg)
n.3193A>G
c.2888A>G (p.Gln963Arg)
c.2954A>G (p.Gln985Arg)
c.2906A>G (p.Gln969Arg)
c.2771A>G (p.Gln924Arg)
c.2896-126A>G (n.2896-126A>G)
 gnomAD v3 gnomAD v4
16g.28835997A>TCA395408968ATXN2Lc.2960A>T (p.Gln987Leu)
c.935A>T (p.Gln312Leu)
n.3334A>T
c.155A>T (p.Gln52Leu)
c.2978A>T (p.Gln993Leu)
c.2024A>T (n.2024A>T)
c.229A>T
c.938A>T (p.Gln313Leu)
c.480A>T
c.2981A>T (p.Gln994Leu)
c.2963A>T (p.Gln988Leu)
c.2801A>T (p.Gln934Leu)
c.2909A>T (p.Gln970Leu)
c.2891A>T (p.Gln964Leu)
c.2615A>T (p.Gln872Leu)
n.3190A>T
c.2783A>T (p.Gln928Leu)
c.2597A>T (p.Gln866Leu)
n.3193A>T
c.2888A>T (p.Gln963Leu)
c.2954A>T (p.Gln985Leu)
c.2906A>T (p.Gln969Leu)
c.2771A>T (p.Gln924Leu)
c.2896-126A>T (n.2896-126A>T)
 gnomAD v4
16g.28835997_28835998delCA2632529169ATXN2Lc.2960_2961del (p.Gln987ArgfsTer?)
c.935_936del (p.Gln312ArgfsTer?)
n.3334_3335del
c.155_156del (p.Gln52ArgfsTer?)
c.2978_2979del (p.Gln993ArgfsTer?)
c.2024_2025del (n.2024_2025del)
c.229_230del
c.938_939del (p.Gln313ArgfsTer?)
c.480_481del
c.2981_2982del (p.Gln994ArgfsTer?)
c.2963_2964del (p.Gln988ArgfsTer?)
c.2801_2802del (p.Gln934ArgfsTer?)
c.2909_2910del (p.Gln970ArgfsTer?)
c.2891_2892del (p.Gln964ArgfsTer?)
c.2615_2616del (p.Gln872ArgfsTer?)
n.3190_3191del
c.2783_2784del (p.Gln928ArgfsTer?)
c.2597_2598del (p.Gln866ArgfsTer?)
n.3193_3194del
c.2888_2889del (p.Gln963ArgfsTer?)
c.2954_2955del (p.Gln985ArgfsTer?)
c.2906_2907del (p.Gln969ArgfsTer?)
c.2771_2772del (p.Gln924ArgfsTer?)
c.2896-126_2896-125del (n.2896-126_2896-125del)
 gnomAD v4
16g.28835998G>ACA494868753ATXN2Lc.2961G>A (p.Gln987=)
c.936G>A (p.Gln312=)
n.3335G>A
c.156G>A (p.Gln52=)
c.2979G>A (p.Gln993=)
c.2025G>A (n.2025G>A)
c.230G>A
c.939G>A (p.Gln313=)
c.481G>A
c.2982G>A (p.Gln994=)
c.2964G>A (p.Gln988=)
c.2802G>A (p.Gln934=)
c.2910G>A (p.Gln970=)
c.2892G>A (p.Gln964=)
c.2616G>A (p.Gln872=)
n.3191G>A
c.2784G>A (p.Gln928=)
c.2598G>A (p.Gln866=)
n.3194G>A
c.2889G>A (p.Gln963=)
c.2955G>A (p.Gln985=)
c.2907G>A (p.Gln969=)
c.2772G>A (p.Gln924=)
c.2896-125G>A (n.2896-125G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.28835998G>CCA395408972ATXN2Lc.2961G>C (p.Gln987His)
c.936G>C (p.Gln312His)
n.3335G>C
c.156G>C (p.Gln52His)
c.2979G>C (p.Gln993His)
c.2025G>C (n.2025G>C)
c.230G>C
c.939G>C (p.Gln313His)
c.481G>C
c.2982G>C (p.Gln994His)
c.2964G>C (p.Gln988His)
c.2802G>C (p.Gln934His)
c.2910G>C (p.Gln970His)
c.2892G>C (p.Gln964His)
c.2616G>C (p.Gln872His)
n.3191G>C
c.2784G>C (p.Gln928His)
c.2598G>C (p.Gln866His)
n.3194G>C
c.2889G>C (p.Gln963His)
c.2955G>C (p.Gln985His)
c.2907G>C (p.Gln969His)
c.2772G>C (p.Gln924His)
c.2896-125G>C (n.2896-125G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28835998G=CA2215806796ATXN2Lc.2961G= (p.Gln987=)
c.936G= (p.Gln312=)
n.3335G=
c.156G= (p.Gln52=)
c.2979G= (p.Gln993=)
c.2025G= (n.2025G=)
c.230G=
c.939G= (p.Gln313=)
c.481G=
c.2982G= (p.Gln994=)
c.2964G= (p.Gln988=)
c.2802G= (p.Gln934=)
c.2910G= (p.Gln970=)
c.2892G= (p.Gln964=)
c.2616G= (p.Gln872=)
n.3191G=
c.2784G= (p.Gln928=)
c.2598G= (p.Gln866=)
n.3194G=
c.2889G= (p.Gln963=)
c.2955G= (p.Gln985=)
c.2907G= (p.Gln969=)
c.2772G= (p.Gln924=)
c.2896-125G= (n.2896-125G=)
16g.28835998G>TCA395408974ATXN2Lc.2961G>T (p.Gln987His)
c.936G>T (p.Gln312His)
n.3335G>T
c.156G>T (p.Gln52His)
c.2979G>T (p.Gln993His)
c.2025G>T (n.2025G>T)
c.230G>T
c.939G>T (p.Gln313His)
c.481G>T
c.2982G>T (p.Gln994His)
c.2964G>T (p.Gln988His)
c.2802G>T (p.Gln934His)
c.2910G>T (p.Gln970His)
c.2892G>T (p.Gln964His)
c.2616G>T (p.Gln872His)
n.3191G>T
c.2784G>T (p.Gln928His)
c.2598G>T (p.Gln866His)
n.3194G>T
c.2889G>T (p.Gln963His)
c.2955G>T (p.Gln985His)
c.2907G>T (p.Gln969His)
c.2772G>T (p.Gln924His)
c.2896-125G>T (n.2896-125G>T)
16g.28835999G>ACA7985150ATXN2Lc.2962G>A (p.Val988Met)
c.937G>A (p.Val313Met)
n.3336G>A
c.157G>A (p.Val53Met)
c.2980G>A (p.Val994Met)
c.2026G>A (n.2026G>A)
c.231G>A
c.940G>A (p.Val314Met)
c.482G>A
c.2983G>A (p.Val995Met)
c.2965G>A (p.Val989Met)
c.2803G>A (p.Val935Met)
c.2911G>A (p.Val971Met)
c.2893G>A (p.Val965Met)
c.2617G>A (p.Val873Met)
n.3192G>A
c.2785G>A (p.Val929Met)
c.2599G>A (p.Val867Met)
n.3195G>A
c.2890G>A (p.Val964Met)
c.2956G>A (p.Val986Met)
c.2908G>A (p.Val970Met)
c.2773G>A (p.Val925Met)
c.2896-124G>A (n.2896-124G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835999G>CCA395408976ATXN2Lc.2962G>C (p.Val988Leu)
c.937G>C (p.Val313Leu)
n.3336G>C
c.157G>C (p.Val53Leu)
c.2980G>C (p.Val994Leu)
c.2026G>C (n.2026G>C)
c.231G>C
c.940G>C (p.Val314Leu)
c.482G>C
c.2983G>C (p.Val995Leu)
c.2965G>C (p.Val989Leu)
c.2803G>C (p.Val935Leu)
c.2911G>C (p.Val971Leu)
c.2893G>C (p.Val965Leu)
c.2617G>C (p.Val873Leu)
n.3192G>C
c.2785G>C (p.Val929Leu)
c.2599G>C (p.Val867Leu)
n.3195G>C
c.2890G>C (p.Val964Leu)
c.2956G>C (p.Val986Leu)
c.2908G>C (p.Val970Leu)
c.2773G>C (p.Val925Leu)
c.2896-124G>C (n.2896-124G>C)
16g.28835999G=CA2215806798ATXN2Lc.2962G= (p.Val988=)
c.937G= (p.Val313=)
n.3336G=
c.157G= (p.Val53=)
c.2980G= (p.Val994=)
c.2026G= (n.2026G=)
c.231G=
c.940G= (p.Val314=)
c.482G=
c.2983G= (p.Val995=)
c.2965G= (p.Val989=)
c.2803G= (p.Val935=)
c.2911G= (p.Val971=)
c.2893G= (p.Val965=)
c.2617G= (p.Val873=)
n.3192G=
c.2785G= (p.Val929=)
c.2599G= (p.Val867=)
n.3195G=
c.2890G= (p.Val964=)
c.2956G= (p.Val986=)
c.2908G= (p.Val970=)
c.2773G= (p.Val925=)
c.2896-124G= (n.2896-124G=)
16g.28835999G>TCA395408978ATXN2Lc.2962G>T (p.Val988Leu)
c.937G>T (p.Val313Leu)
n.3336G>T
c.157G>T (p.Val53Leu)
c.2980G>T (p.Val994Leu)
c.2026G>T (n.2026G>T)
c.231G>T
c.940G>T (p.Val314Leu)
c.482G>T
c.2983G>T (p.Val995Leu)
c.2965G>T (p.Val989Leu)
c.2803G>T (p.Val935Leu)
c.2911G>T (p.Val971Leu)
c.2893G>T (p.Val965Leu)
c.2617G>T (p.Val873Leu)
n.3192G>T
c.2785G>T (p.Val929Leu)
c.2599G>T (p.Val867Leu)
n.3195G>T
c.2890G>T (p.Val964Leu)
c.2956G>T (p.Val986Leu)
c.2908G>T (p.Val970Leu)
c.2773G>T (p.Val925Leu)
c.2896-124G>T (n.2896-124G>T)
16g.28836000delCA2632529179ATXN2Lc.2963del (p.Val988GlyfsTer?)
c.938del (p.Val313GlyfsTer?)
n.3337del
c.158del (p.Val53GlyfsTer?)
c.2981del (p.Val994GlyfsTer?)
c.2027del (n.2027del)
c.232del
c.941del (p.Val314GlyfsTer?)
c.483del
c.2984del (p.Val995GlyfsTer?)
c.2966del (p.Val989GlyfsTer?)
c.2804del (p.Val935GlyfsTer?)
c.2912del (p.Val971GlyfsTer?)
c.2894del (p.Val965GlyfsTer?)
c.2618del (p.Val873GlyfsTer?)
n.3193del
c.2786del (p.Val929GlyfsTer?)
c.2600del (p.Val867GlyfsTer?)
n.3196del
c.2891del (p.Val964GlyfsTer?)
c.2957del (p.Val986GlyfsTer?)
c.2909del (p.Val970GlyfsTer?)
c.2774del (p.Val925GlyfsTer?)
c.2896-123del (n.2896-123del)
 gnomAD v4
16g.28836000T>ACA395408980ATXN2Lc.2963T>A (p.Val988Glu)
c.938T>A (p.Val313Glu)
n.3337T>A
c.158T>A (p.Val53Glu)
c.2981T>A (p.Val994Glu)
c.2027T>A (n.2027T>A)
c.232T>A
c.941T>A (p.Val314Glu)
c.483T>A
c.2984T>A (p.Val995Glu)
c.2966T>A (p.Val989Glu)
c.2804T>A (p.Val935Glu)
c.2912T>A (p.Val971Glu)
c.2894T>A (p.Val965Glu)
c.2618T>A (p.Val873Glu)
n.3193T>A
c.2786T>A (p.Val929Glu)
c.2600T>A (p.Val867Glu)
n.3196T>A
c.2891T>A (p.Val964Glu)
c.2957T>A (p.Val986Glu)
c.2909T>A (p.Val970Glu)
c.2774T>A (p.Val925Glu)
c.2896-123T>A (n.2896-123T>A)
16g.28836000T>CCA395408982ATXN2Lc.2963T>C (p.Val988Ala)
c.938T>C (p.Val313Ala)
n.3337T>C
c.158T>C (p.Val53Ala)
c.2981T>C (p.Val994Ala)
c.2027T>C (n.2027T>C)
c.232T>C
c.941T>C (p.Val314Ala)
c.483T>C
c.2984T>C (p.Val995Ala)
c.2966T>C (p.Val989Ala)
c.2804T>C (p.Val935Ala)
c.2912T>C (p.Val971Ala)
c.2894T>C (p.Val965Ala)
c.2618T>C (p.Val873Ala)
n.3193T>C
c.2786T>C (p.Val929Ala)
c.2600T>C (p.Val867Ala)
n.3196T>C
c.2891T>C (p.Val964Ala)
c.2957T>C (p.Val986Ala)
c.2909T>C (p.Val970Ala)
c.2774T>C (p.Val925Ala)
c.2896-123T>C (n.2896-123T>C)
16g.28836000T>GCA395408986ATXN2Lc.2963T>G (p.Val988Gly)
c.938T>G (p.Val313Gly)
n.3337T>G
c.158T>G (p.Val53Gly)
c.2981T>G (p.Val994Gly)
c.2027T>G (n.2027T>G)
c.232T>G
c.941T>G (p.Val314Gly)
c.483T>G
c.2984T>G (p.Val995Gly)
c.2966T>G (p.Val989Gly)
c.2804T>G (p.Val935Gly)
c.2912T>G (p.Val971Gly)
c.2894T>G (p.Val965Gly)
c.2618T>G (p.Val873Gly)
n.3193T>G
c.2786T>G (p.Val929Gly)
c.2600T>G (p.Val867Gly)
n.3196T>G
c.2891T>G (p.Val964Gly)
c.2957T>G (p.Val986Gly)
c.2909T>G (p.Val970Gly)
c.2774T>G (p.Val925Gly)
c.2896-123T>G (n.2896-123T>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28836000T=CA2215806800ATXN2Lc.2963T= (p.Val988=)
c.938T= (p.Val313=)
n.3337T=
c.158T= (p.Val53=)
c.2981T= (p.Val994=)
c.2027T= (n.2027T=)
c.232T=
c.941T= (p.Val314=)
c.483T=
c.2984T= (p.Val995=)
c.2966T= (p.Val989=)
c.2804T= (p.Val935=)
c.2912T= (p.Val971=)
c.2894T= (p.Val965=)
c.2618T= (p.Val873=)
n.3193T=
c.2786T= (p.Val929=)
c.2600T= (p.Val867=)
n.3196T=
c.2891T= (p.Val964=)
c.2957T= (p.Val986=)
c.2909T= (p.Val970=)
c.2774T= (p.Val925=)
c.2896-123T= (n.2896-123T=)
16g.28836001G>ACA494868767ATXN2Lc.2964G>A (p.Val988=)
c.939G>A (p.Val313=)
n.3338G>A
c.159G>A (p.Val53=)
c.2982G>A (p.Val994=)
c.2028G>A (n.2028G>A)
c.233G>A
c.942G>A (p.Val314=)
c.484G>A
c.2985G>A (p.Val995=)
c.2967G>A (p.Val989=)
c.2805G>A (p.Val935=)
c.2913G>A (p.Val971=)
c.2895G>A (p.Val965=)
c.2619G>A (p.Val873=)
n.3194G>A
c.2787G>A (p.Val929=)
c.2601G>A (p.Val867=)
n.3197G>A
c.2892G>A (p.Val964=)
c.2958G>A (p.Val986=)
c.2910G>A (p.Val970=)
c.2775G>A (p.Val925=)
c.2896-122G>A (n.2896-122G>A)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836001G>CCA494868769ATXN2Lc.2964G>C (p.Val988=)
c.939G>C (p.Val313=)
n.3338G>C
c.159G>C (p.Val53=)
c.2982G>C (p.Val994=)
c.2028G>C (n.2028G>C)
c.233G>C
c.942G>C (p.Val314=)
c.484G>C
c.2985G>C (p.Val995=)
c.2967G>C (p.Val989=)
c.2805G>C (p.Val935=)
c.2913G>C (p.Val971=)
c.2895G>C (p.Val965=)
c.2619G>C (p.Val873=)
n.3194G>C
c.2787G>C (p.Val929=)
c.2601G>C (p.Val867=)
n.3197G>C
c.2892G>C (p.Val964=)
c.2958G>C (p.Val986=)
c.2910G>C (p.Val970=)
c.2775G>C (p.Val925=)
c.2896-122G>C (n.2896-122G>C)
16g.28836001G>TCA494868773ATXN2Lc.2964G>T (p.Val988=)
c.939G>T (p.Val313=)
n.3338G>T
c.159G>T (p.Val53=)
c.2982G>T (p.Val994=)
c.2028G>T (n.2028G>T)
c.233G>T
c.942G>T (p.Val314=)
c.484G>T
c.2985G>T (p.Val995=)
c.2967G>T (p.Val989=)
c.2805G>T (p.Val935=)
c.2913G>T (p.Val971=)
c.2895G>T (p.Val965=)
c.2619G>T (p.Val873=)
n.3194G>T
c.2787G>T (p.Val929=)
c.2601G>T (p.Val867=)
n.3197G>T
c.2892G>T (p.Val964=)
c.2958G>T (p.Val986=)
c.2910G>T (p.Val970=)
c.2775G>T (p.Val925=)
c.2896-122G>T (n.2896-122G>T)
16g.28836001_28836002delCA2632529185ATXN2Lc.2964_2965del (p.Met989AlafsTer?)
c.939_940del (p.Met314AlafsTer?)
n.3338_3339del
c.159_160del (p.Met54AlafsTer?)
c.2982_2983del (p.Met995AlafsTer?)
c.2028_2029del (n.2028_2029del)
c.233_234del
c.942_943del (p.Met315AlafsTer?)
c.484_485del
c.2985_2986del (p.Met996AlafsTer?)
c.2967_2968del (p.Met990AlafsTer?)
c.2805_2806del (p.Met936AlafsTer?)
c.2913_2914del (p.Met972AlafsTer?)
c.2895_2896del (p.Met966AlafsTer?)
c.2619_2620del (p.Met874AlafsTer?)
n.3194_3195del
c.2787_2788del (p.Met930AlafsTer?)
c.2601_2602del (p.Met868AlafsTer?)
n.3197_3198del
c.2892_2893del (p.Met965AlafsTer?)
c.2958_2959del (p.Met987AlafsTer?)
c.2910_2911del (p.Met971AlafsTer?)
c.2775_2776del (p.Met926AlafsTer?)
c.2896-122_2896-121del (n.2896-122_2896-121del)
 gnomAD v4
16g.28836002A=CA2215806802ATXN2Lc.2965A= (p.Met989=)
c.940A= (p.Met314=)
n.3339A=
c.160A= (p.Met54=)
c.2983A= (p.Met995=)
c.2029A= (n.2029A=)
c.234A=
c.943A= (p.Met315=)
c.485A=
c.2986A= (p.Met996=)
c.2968A= (p.Met990=)
c.2806A= (p.Met936=)
c.2914A= (p.Met972=)
c.2896A= (p.Met966=)
c.2620A= (p.Met874=)
n.3195A=
c.2788A= (p.Met930=)
c.2602A= (p.Met868=)
n.3198A=
c.2893A= (p.Met965=)
c.2959A= (p.Met987=)
c.2911A= (p.Met971=)
c.2776A= (p.Met926=)
c.2896-121A= (n.2896-121A=)
16g.28836002A>CCA395408990ATXN2Lc.2965A>C (p.Met989Leu)
c.940A>C (p.Met314Leu)
n.3339A>C
c.160A>C (p.Met54Leu)
c.2983A>C (p.Met995Leu)
c.2029A>C (n.2029A>C)
c.234A>C
c.943A>C (p.Met315Leu)
c.485A>C
c.2986A>C (p.Met996Leu)
c.2968A>C (p.Met990Leu)
c.2806A>C (p.Met936Leu)
c.2914A>C (p.Met972Leu)
c.2896A>C (p.Met966Leu)
c.2620A>C (p.Met874Leu)
n.3195A>C
c.2788A>C (p.Met930Leu)
c.2602A>C (p.Met868Leu)
n.3198A>C
c.2893A>C (p.Met965Leu)
c.2959A>C (p.Met987Leu)
c.2911A>C (p.Met971Leu)
c.2776A>C (p.Met926Leu)
c.2896-121A>C (n.2896-121A>C)
16g.28836002A>GCA395408991ATXN2Lc.2965A>G (p.Met989Val)
c.940A>G (p.Met314Val)
n.3339A>G
c.160A>G (p.Met54Val)
c.2983A>G (p.Met995Val)
c.2029A>G (n.2029A>G)
c.234A>G
c.943A>G (p.Met315Val)
c.485A>G
c.2986A>G (p.Met996Val)
c.2968A>G (p.Met990Val)
c.2806A>G (p.Met936Val)
c.2914A>G (p.Met972Val)
c.2896A>G (p.Met966Val)
c.2620A>G (p.Met874Val)
n.3195A>G
c.2788A>G (p.Met930Val)
c.2602A>G (p.Met868Val)
n.3198A>G
c.2893A>G (p.Met965Val)
c.2959A>G (p.Met987Val)
c.2911A>G (p.Met971Val)
c.2776A>G (p.Met926Val)
c.2896-121A>G (n.2896-121A>G)
 dbSNP gnomAD v4
16g.28836002A>TCA395408993ATXN2Lc.2965A>T (p.Met989Leu)
c.940A>T (p.Met314Leu)
n.3339A>T
c.160A>T (p.Met54Leu)
c.2983A>T (p.Met995Leu)
c.2029A>T (n.2029A>T)
c.234A>T
c.943A>T (p.Met315Leu)
c.485A>T
c.2986A>T (p.Met996Leu)
c.2968A>T (p.Met990Leu)
c.2806A>T (p.Met936Leu)
c.2914A>T (p.Met972Leu)
c.2896A>T (p.Met966Leu)
c.2620A>T (p.Met874Leu)
n.3195A>T
c.2788A>T (p.Met930Leu)
c.2602A>T (p.Met868Leu)
n.3198A>T
c.2893A>T (p.Met965Leu)
c.2959A>T (p.Met987Leu)
c.2911A>T (p.Met971Leu)
c.2776A>T (p.Met926Leu)
c.2896-121A>T (n.2896-121A>T)
 gnomAD v3 gnomAD v4
16g.28836003T>ACA395408995ATXN2Lc.2966T>A (p.Met989Lys)
c.941T>A (p.Met314Lys)
n.3340T>A
c.161T>A (p.Met54Lys)
c.2984T>A (p.Met995Lys)
c.2030T>A (n.2030T>A)
c.235T>A
c.944T>A (p.Met315Lys)
c.486T>A
c.2987T>A (p.Met996Lys)
c.2969T>A (p.Met990Lys)
c.2807T>A (p.Met936Lys)
c.2915T>A (p.Met972Lys)
c.2897T>A (p.Met966Lys)
c.2621T>A (p.Met874Lys)
n.3196T>A
c.2789T>A (p.Met930Lys)
c.2603T>A (p.Met868Lys)
n.3199T>A
c.2894T>A (p.Met965Lys)
c.2960T>A (p.Met987Lys)
c.2912T>A (p.Met971Lys)
c.2777T>A (p.Met926Lys)
c.2896-120T>A (n.2896-120T>A)
16g.28836003T>CCA395408997ATXN2Lc.2966T>C (p.Met989Thr)
c.941T>C (p.Met314Thr)
n.3340T>C
c.161T>C (p.Met54Thr)
c.2984T>C (p.Met995Thr)
c.2030T>C (n.2030T>C)
c.235T>C
c.944T>C (p.Met315Thr)
c.486T>C
c.2987T>C (p.Met996Thr)
c.2969T>C (p.Met990Thr)
c.2807T>C (p.Met936Thr)
c.2915T>C (p.Met972Thr)
c.2897T>C (p.Met966Thr)
c.2621T>C (p.Met874Thr)
n.3196T>C
c.2789T>C (p.Met930Thr)
c.2603T>C (p.Met868Thr)
n.3199T>C
c.2894T>C (p.Met965Thr)
c.2960T>C (p.Met987Thr)
c.2912T>C (p.Met971Thr)
c.2777T>C (p.Met926Thr)
c.2896-120T>C (n.2896-120T>C)
16g.28836003T>GCA395408998ATXN2Lc.2966T>G (p.Met989Arg)
c.941T>G (p.Met314Arg)
n.3340T>G
c.161T>G (p.Met54Arg)
c.2984T>G (p.Met995Arg)
c.2030T>G (n.2030T>G)
c.235T>G
c.944T>G (p.Met315Arg)
c.486T>G
c.2987T>G (p.Met996Arg)
c.2969T>G (p.Met990Arg)
c.2807T>G (p.Met936Arg)
c.2915T>G (p.Met972Arg)
c.2897T>G (p.Met966Arg)
c.2621T>G (p.Met874Arg)
n.3196T>G
c.2789T>G (p.Met930Arg)
c.2603T>G (p.Met868Arg)
n.3199T>G
c.2894T>G (p.Met965Arg)
c.2960T>G (p.Met987Arg)
c.2912T>G (p.Met971Arg)
c.2777T>G (p.Met926Arg)
c.2896-120T>G (n.2896-120T>G)
16g.28836004G>ACA395409000ATXN2Lc.2967G>A (p.Met989Ile)
c.942G>A (p.Met314Ile)
n.3341G>A
c.162G>A (p.Met54Ile)
c.2985G>A (p.Met995Ile)
c.2031G>A (n.2031G>A)
c.236G>A
c.945G>A (p.Met315Ile)
c.487G>A
c.2988G>A (p.Met996Ile)
c.2970G>A (p.Met990Ile)
c.2808G>A (p.Met936Ile)
c.2916G>A (p.Met972Ile)
c.2898G>A (p.Met966Ile)
c.2622G>A (p.Met874Ile)
n.3197G>A
c.2790G>A (p.Met930Ile)
c.2604G>A (p.Met868Ile)
n.3200G>A
c.2895G>A (p.Met965Ile)
c.2961G>A (p.Met987Ile)
c.2913G>A (p.Met971Ile)
c.2778G>A (p.Met926Ile)
c.2896-119G>A (n.2896-119G>A)
16g.28836004G>CCA395409004ATXN2Lc.2967G>C (p.Met989Ile)
c.942G>C (p.Met314Ile)
n.3341G>C
c.162G>C (p.Met54Ile)
c.2985G>C (p.Met995Ile)
c.2031G>C (n.2031G>C)
c.236G>C
c.945G>C (p.Met315Ile)
c.487G>C
c.2988G>C (p.Met996Ile)
c.2970G>C (p.Met990Ile)
c.2808G>C (p.Met936Ile)
c.2916G>C (p.Met972Ile)
c.2898G>C (p.Met966Ile)
c.2622G>C (p.Met874Ile)
n.3197G>C
c.2790G>C (p.Met930Ile)
c.2604G>C (p.Met868Ile)
n.3200G>C
c.2895G>C (p.Met965Ile)
c.2961G>C (p.Met987Ile)
c.2913G>C (p.Met971Ile)
c.2778G>C (p.Met926Ile)
c.2896-119G>C (n.2896-119G>C)
16g.28836004G>TCA395409002ATXN2Lc.2967G>T (p.Met989Ile)
c.942G>T (p.Met314Ile)
n.3341G>T
c.162G>T (p.Met54Ile)
c.2985G>T (p.Met995Ile)
c.2031G>T (n.2031G>T)
c.236G>T
c.945G>T (p.Met315Ile)
c.487G>T
c.2988G>T (p.Met996Ile)
c.2970G>T (p.Met990Ile)
c.2808G>T (p.Met936Ile)
c.2916G>T (p.Met972Ile)
c.2898G>T (p.Met966Ile)
c.2622G>T (p.Met874Ile)
n.3197G>T
c.2790G>T (p.Met930Ile)
c.2604G>T (p.Met868Ile)
n.3200G>T
c.2895G>T (p.Met965Ile)
c.2961G>T (p.Met987Ile)
c.2913G>T (p.Met971Ile)
c.2778G>T (p.Met926Ile)
c.2896-119G>T (n.2896-119G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.28836005C>ACA395409006ATXN2Lc.2968C>A (p.Leu990Met)
c.943C>A (p.Leu315Met)
n.3342C>A
c.163C>A (p.Leu55Met)
c.2986C>A (p.Leu996Met)
c.2032C>A (n.2032C>A)
c.237C>A
c.946C>A (p.Leu316Met)
c.488C>A
c.2989C>A (p.Leu997Met)
c.2971C>A (p.Leu991Met)
c.2809C>A (p.Leu937Met)
c.2917C>A (p.Leu973Met)
c.2899C>A (p.Leu967Met)
c.2623C>A (p.Leu875Met)
n.3198C>A
c.2791C>A (p.Leu931Met)
c.2605C>A (p.Leu869Met)
n.3201C>A
c.2896C>A (p.Leu966Met)
c.2962C>A (p.Leu988Met)
c.2914C>A (p.Leu972Met)
c.2779C>A (p.Leu927Met)
c.2896-118C>A (n.2896-118C>A)
16g.28836005C>GCA395409008ATXN2Lc.2968C>G (p.Leu990Val)
c.943C>G (p.Leu315Val)
n.3342C>G
c.163C>G (p.Leu55Val)
c.2986C>G (p.Leu996Val)
c.2032C>G (n.2032C>G)
c.237C>G
c.946C>G (p.Leu316Val)
c.488C>G
c.2989C>G (p.Leu997Val)
c.2971C>G (p.Leu991Val)
c.2809C>G (p.Leu937Val)
c.2917C>G (p.Leu973Val)
c.2899C>G (p.Leu967Val)
c.2623C>G (p.Leu875Val)
n.3198C>G
c.2791C>G (p.Leu931Val)
c.2605C>G (p.Leu869Val)
n.3201C>G
c.2896C>G (p.Leu966Val)
c.2962C>G (p.Leu988Val)
c.2914C>G (p.Leu972Val)
c.2779C>G (p.Leu927Val)
c.2896-118C>G (n.2896-118C>G)
 gnomAD v4
16g.28836005C>TCA494868786ATXN2Lc.2968C>T (p.Leu990=)
c.943C>T (p.Leu315=)
n.3342C>T
c.163C>T (p.Leu55=)
c.2986C>T (p.Leu996=)
c.2032C>T (n.2032C>T)
c.237C>T
c.946C>T (p.Leu316=)
c.488C>T
c.2989C>T (p.Leu997=)
c.2971C>T (p.Leu991=)
c.2809C>T (p.Leu937=)
c.2917C>T (p.Leu973=)
c.2899C>T (p.Leu967=)
c.2623C>T (p.Leu875=)
n.3198C>T
c.2791C>T (p.Leu931=)
c.2605C>T (p.Leu869=)
n.3201C>T
c.2896C>T (p.Leu966=)
c.2962C>T (p.Leu988=)
c.2914C>T (p.Leu972=)
c.2779C>T (p.Leu927=)
c.2896-118C>T (n.2896-118C>T)
 gnomAD v4 COSMIC COSMIC
16g.28836006T>ACA395409010ATXN2Lc.2969T>A (p.Leu990Gln)
c.944T>A (p.Leu315Gln)
n.3343T>A
c.164T>A (p.Leu55Gln)
c.2987T>A (p.Leu996Gln)
c.2033T>A (n.2033T>A)
c.238T>A
c.947T>A (p.Leu316Gln)
c.489T>A
c.2990T>A (p.Leu997Gln)
c.2972T>A (p.Leu991Gln)
c.2810T>A (p.Leu937Gln)
c.2918T>A (p.Leu973Gln)
c.2900T>A (p.Leu967Gln)
c.2624T>A (p.Leu875Gln)
n.3199T>A
c.2792T>A (p.Leu931Gln)
c.2606T>A (p.Leu869Gln)
n.3202T>A
c.2897T>A (p.Leu966Gln)
c.2963T>A (p.Leu988Gln)
c.2915T>A (p.Leu972Gln)
c.2780T>A (p.Leu927Gln)
c.2896-117T>A (n.2896-117T>A)
 gnomAD v4
16g.28836006T>CCA395409012ATXN2Lc.2969T>C (p.Leu990Pro)
c.944T>C (p.Leu315Pro)
n.3343T>C
c.164T>C (p.Leu55Pro)
c.2987T>C (p.Leu996Pro)
c.2033T>C (n.2033T>C)
c.238T>C
c.947T>C (p.Leu316Pro)
c.489T>C
c.2990T>C (p.Leu997Pro)
c.2972T>C (p.Leu991Pro)
c.2810T>C (p.Leu937Pro)
c.2918T>C (p.Leu973Pro)
c.2900T>C (p.Leu967Pro)
c.2624T>C (p.Leu875Pro)
n.3199T>C
c.2792T>C (p.Leu931Pro)
c.2606T>C (p.Leu869Pro)
n.3202T>C
c.2897T>C (p.Leu966Pro)
c.2963T>C (p.Leu988Pro)
c.2915T>C (p.Leu972Pro)
c.2780T>C (p.Leu927Pro)
c.2896-117T>C (n.2896-117T>C)
16g.28836006T>GCA395409013ATXN2Lc.2969T>G (p.Leu990Arg)
c.944T>G (p.Leu315Arg)
n.3343T>G
c.164T>G (p.Leu55Arg)
c.2987T>G (p.Leu996Arg)
c.2033T>G (n.2033T>G)
c.238T>G
c.947T>G (p.Leu316Arg)
c.489T>G
c.2990T>G (p.Leu997Arg)
c.2972T>G (p.Leu991Arg)
c.2810T>G (p.Leu937Arg)
c.2918T>G (p.Leu973Arg)
c.2900T>G (p.Leu967Arg)
c.2624T>G (p.Leu875Arg)
n.3199T>G
c.2792T>G (p.Leu931Arg)
c.2606T>G (p.Leu869Arg)
n.3202T>G
c.2897T>G (p.Leu966Arg)
c.2963T>G (p.Leu988Arg)
c.2915T>G (p.Leu972Arg)
c.2780T>G (p.Leu927Arg)
c.2896-117T>G (n.2896-117T>G)
 gnomAD v4
16g.28836007G>ACA494868797ATXN2Lc.2970G>A (p.Leu990=)
c.945G>A (p.Leu315=)
n.3344G>A
c.165G>A (p.Leu55=)
c.2988G>A (p.Leu996=)
c.2034G>A (n.2034G>A)
c.239G>A
c.948G>A (p.Leu316=)
c.490G>A
c.2991G>A (p.Leu997=)
c.2973G>A (p.Leu991=)
c.2811G>A (p.Leu937=)
c.2919G>A (p.Leu973=)
c.2901G>A (p.Leu967=)
c.2625G>A (p.Leu875=)
n.3200G>A
c.2793G>A (p.Leu931=)
c.2607G>A (p.Leu869=)
n.3203G>A
c.2898G>A (p.Leu966=)
c.2964G>A (p.Leu988=)
c.2916G>A (p.Leu972=)
c.2781G>A (p.Leu927=)
c.2896-116G>A (n.2896-116G>A)
16g.28836007G>CCA494868802ATXN2Lc.2970G>C (p.Leu990=)
c.945G>C (p.Leu315=)
n.3344G>C
c.165G>C (p.Leu55=)
c.2988G>C (p.Leu996=)
c.2034G>C (n.2034G>C)
c.239G>C
c.948G>C (p.Leu316=)
c.490G>C
c.2991G>C (p.Leu997=)
c.2973G>C (p.Leu991=)
c.2811G>C (p.Leu937=)
c.2919G>C (p.Leu973=)
c.2901G>C (p.Leu967=)
c.2625G>C (p.Leu875=)
n.3200G>C
c.2793G>C (p.Leu931=)
c.2607G>C (p.Leu869=)
n.3203G>C
c.2898G>C (p.Leu966=)
c.2964G>C (p.Leu988=)
c.2916G>C (p.Leu972=)
c.2781G>C (p.Leu927=)
c.2896-116G>C (n.2896-116G>C)
16g.28836007G>TCA494868804ATXN2Lc.2970G>T (p.Leu990=)
c.945G>T (p.Leu315=)
n.3344G>T
c.165G>T (p.Leu55=)
c.2988G>T (p.Leu996=)
c.2034G>T (n.2034G>T)
c.239G>T
c.948G>T (p.Leu316=)
c.490G>T
c.2991G>T (p.Leu997=)
c.2973G>T (p.Leu991=)
c.2811G>T (p.Leu937=)
c.2919G>T (p.Leu973=)
c.2901G>T (p.Leu967=)
c.2625G>T (p.Leu875=)
n.3200G>T
c.2793G>T (p.Leu931=)
c.2607G>T (p.Leu869=)
n.3203G>T
c.2898G>T (p.Leu966=)
c.2964G>T (p.Leu988=)
c.2916G>T (p.Leu972=)
c.2781G>T (p.Leu927=)
c.2896-116G>T (n.2896-116G>T)
16g.28836008C>ACA395409016ATXN2Lc.2971C>A (p.Leu991Met)
c.946C>A (p.Leu316Met)
n.3345C>A
c.166C>A (p.Leu56Met)
c.2989C>A (p.Leu997Met)
c.2035C>A (n.2035C>A)
c.240C>A
c.949C>A (p.Leu317Met)
c.491C>A
c.2992C>A (p.Leu998Met)
c.2974C>A (p.Leu992Met)
c.2812C>A (p.Leu938Met)
c.2920C>A (p.Leu974Met)
c.2902C>A (p.Leu968Met)
c.2626C>A (p.Leu876Met)
n.3201C>A
c.2794C>A (p.Leu932Met)
c.2608C>A (p.Leu870Met)
n.3204C>A
c.2899C>A (p.Leu967Met)
c.2965C>A (p.Leu989Met)
c.2917C>A (p.Leu973Met)
c.2782C>A (p.Leu928Met)
c.2896-115C>A (n.2896-115C>A)
16g.28836008C=CA2215806804ATXN2Lc.2971C= (p.Leu991=)
c.946C= (p.Leu316=)
n.3345C=
c.166C= (p.Leu56=)
c.2989C= (p.Leu997=)
c.2035C= (n.2035C=)
c.240C=
c.949C= (p.Leu317=)
c.491C=
c.2992C= (p.Leu998=)
c.2974C= (p.Leu992=)
c.2812C= (p.Leu938=)
c.2920C= (p.Leu974=)
c.2902C= (p.Leu968=)
c.2626C= (p.Leu876=)
n.3201C=
c.2794C= (p.Leu932=)
c.2608C= (p.Leu870=)
n.3204C=
c.2899C= (p.Leu967=)
c.2965C= (p.Leu989=)
c.2917C= (p.Leu973=)
c.2782C= (p.Leu928=)
c.2896-115C= (n.2896-115C=)
16g.28836008C>GCA395409017ATXN2Lc.2971C>G (p.Leu991Val)
c.946C>G (p.Leu316Val)
n.3345C>G
c.166C>G (p.Leu56Val)
c.2989C>G (p.Leu997Val)
c.2035C>G (n.2035C>G)
c.240C>G
c.949C>G (p.Leu317Val)
c.491C>G
c.2992C>G (p.Leu998Val)
c.2974C>G (p.Leu992Val)
c.2812C>G (p.Leu938Val)
c.2920C>G (p.Leu974Val)
c.2902C>G (p.Leu968Val)
c.2626C>G (p.Leu876Val)
n.3201C>G
c.2794C>G (p.Leu932Val)
c.2608C>G (p.Leu870Val)
n.3204C>G
c.2899C>G (p.Leu967Val)
c.2965C>G (p.Leu989Val)
c.2917C>G (p.Leu973Val)
c.2782C>G (p.Leu928Val)
c.2896-115C>G (n.2896-115C>G)
16g.28836008C>TCA494868809ATXN2Lc.2971C>T (p.Leu991=)
c.946C>T (p.Leu316=)
n.3345C>T
c.166C>T (p.Leu56=)
c.2989C>T (p.Leu997=)
c.2035C>T (n.2035C>T)
c.240C>T
c.949C>T (p.Leu317=)
c.491C>T
c.2992C>T (p.Leu998=)
c.2974C>T (p.Leu992=)
c.2812C>T (p.Leu938=)
c.2920C>T (p.Leu974=)
c.2902C>T (p.Leu968=)
c.2626C>T (p.Leu876=)
n.3201C>T
c.2794C>T (p.Leu932=)
c.2608C>T (p.Leu870=)
n.3204C>T
c.2899C>T (p.Leu967=)
c.2965C>T (p.Leu989=)
c.2917C>T (p.Leu973=)
c.2782C>T (p.Leu928=)
c.2896-115C>T (n.2896-115C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836009T>ACA395409019ATXN2Lc.2972T>A (p.Leu991Gln)
c.947T>A (p.Leu316Gln)
n.3346T>A
c.167T>A (p.Leu56Gln)
c.2990T>A (p.Leu997Gln)
c.2036T>A (n.2036T>A)
c.241T>A
c.950T>A (p.Leu317Gln)
c.492T>A
c.2993T>A (p.Leu998Gln)
c.2975T>A (p.Leu992Gln)
c.2813T>A (p.Leu938Gln)
c.2921T>A (p.Leu974Gln)
c.2903T>A (p.Leu968Gln)
c.2627T>A (p.Leu876Gln)
n.3202T>A
c.2795T>A (p.Leu932Gln)
c.2609T>A (p.Leu870Gln)
n.3205T>A
c.2900T>A (p.Leu967Gln)
c.2966T>A (p.Leu989Gln)
c.2918T>A (p.Leu973Gln)
c.2783T>A (p.Leu928Gln)
c.2896-114T>A (n.2896-114T>A)
 gnomAD v4
16g.28836009T>CCA395409021ATXN2Lc.2972T>C (p.Leu991Pro)
c.947T>C (p.Leu316Pro)
n.3346T>C
c.167T>C (p.Leu56Pro)
c.2990T>C (p.Leu997Pro)
c.2036T>C (n.2036T>C)
c.241T>C
c.950T>C (p.Leu317Pro)
c.492T>C
c.2993T>C (p.Leu998Pro)
c.2975T>C (p.Leu992Pro)
c.2813T>C (p.Leu938Pro)
c.2921T>C (p.Leu974Pro)
c.2903T>C (p.Leu968Pro)
c.2627T>C (p.Leu876Pro)
n.3202T>C
c.2795T>C (p.Leu932Pro)
c.2609T>C (p.Leu870Pro)
n.3205T>C
c.2900T>C (p.Leu967Pro)
c.2966T>C (p.Leu989Pro)
c.2918T>C (p.Leu973Pro)
c.2783T>C (p.Leu928Pro)
c.2896-114T>C (n.2896-114T>C)
16g.28836009T>GCA395409023ATXN2Lc.2972T>G (p.Leu991Arg)
c.947T>G (p.Leu316Arg)
n.3346T>G
c.167T>G (p.Leu56Arg)
c.2990T>G (p.Leu997Arg)
c.2036T>G (n.2036T>G)
c.241T>G
c.950T>G (p.Leu317Arg)
c.492T>G
c.2993T>G (p.Leu998Arg)
c.2975T>G (p.Leu992Arg)
c.2813T>G (p.Leu938Arg)
c.2921T>G (p.Leu974Arg)
c.2903T>G (p.Leu968Arg)
c.2627T>G (p.Leu876Arg)
n.3202T>G
c.2795T>G (p.Leu932Arg)
c.2609T>G (p.Leu870Arg)
n.3205T>G
c.2900T>G (p.Leu967Arg)
c.2966T>G (p.Leu989Arg)
c.2918T>G (p.Leu973Arg)
c.2783T>G (p.Leu928Arg)
c.2896-114T>G (n.2896-114T>G)
16g.28836010G>ACA494868819ATXN2Lc.2973G>A (p.Leu991=)
c.948G>A (p.Leu316=)
n.3347G>A
c.168G>A (p.Leu56=)
c.2991G>A (p.Leu997=)
c.2037G>A (n.2037G>A)
c.242G>A
c.951G>A (p.Leu317=)
c.493G>A
c.2994G>A (p.Leu998=)
c.2976G>A (p.Leu992=)
c.2814G>A (p.Leu938=)
c.2922G>A (p.Leu974=)
c.2904G>A (p.Leu968=)
c.2628G>A (p.Leu876=)
n.3203G>A
c.2796G>A (p.Leu932=)
c.2610G>A (p.Leu870=)
n.3206G>A
c.2901G>A (p.Leu967=)
c.2967G>A (p.Leu989=)
c.2919G>A (p.Leu973=)
c.2784G>A (p.Leu928=)
c.2896-113G>A (n.2896-113G>A)
 gnomAD v4
16g.28836010G>CCA494868827ATXN2Lc.2973G>C (p.Leu991=)
c.948G>C (p.Leu316=)
n.3347G>C
c.168G>C (p.Leu56=)
c.2991G>C (p.Leu997=)
c.2037G>C (n.2037G>C)
c.242G>C
c.951G>C (p.Leu317=)
c.493G>C
c.2994G>C (p.Leu998=)
c.2976G>C (p.Leu992=)
c.2814G>C (p.Leu938=)
c.2922G>C (p.Leu974=)
c.2904G>C (p.Leu968=)
c.2628G>C (p.Leu876=)
n.3203G>C
c.2796G>C (p.Leu932=)
c.2610G>C (p.Leu870=)
n.3206G>C
c.2901G>C (p.Leu967=)
c.2967G>C (p.Leu989=)
c.2919G>C (p.Leu973=)
c.2784G>C (p.Leu928=)
c.2896-113G>C (n.2896-113G>C)
 dbSNP gnomAD v4
16g.28836010G=CA2215806805ATXN2Lc.2973G= (p.Leu991=)
c.948G= (p.Leu316=)
n.3347G=
c.168G= (p.Leu56=)
c.2991G= (p.Leu997=)
c.2037G= (n.2037G=)
c.242G=
c.951G= (p.Leu317=)
c.493G=
c.2994G= (p.Leu998=)
c.2976G= (p.Leu992=)
c.2814G= (p.Leu938=)
c.2922G= (p.Leu974=)
c.2904G= (p.Leu968=)
c.2628G= (p.Leu876=)
n.3203G=
c.2796G= (p.Leu932=)
c.2610G= (p.Leu870=)
n.3206G=
c.2901G= (p.Leu967=)
c.2967G= (p.Leu989=)
c.2919G= (p.Leu973=)
c.2784G= (p.Leu928=)
c.2896-113G= (n.2896-113G=)
16g.28836010G>TCA494868828ATXN2Lc.2973G>T (p.Leu991=)
c.948G>T (p.Leu316=)
n.3347G>T
c.168G>T (p.Leu56=)
c.2991G>T (p.Leu997=)
c.2037G>T (n.2037G>T)
c.242G>T
c.951G>T (p.Leu317=)
c.493G>T
c.2994G>T (p.Leu998=)
c.2976G>T (p.Leu992=)
c.2814G>T (p.Leu938=)
c.2922G>T (p.Leu974=)
c.2904G>T (p.Leu968=)
c.2628G>T (p.Leu876=)
n.3203G>T
c.2796G>T (p.Leu932=)
c.2610G>T (p.Leu870=)
n.3206G>T
c.2901G>T (p.Leu967=)
c.2967G>T (p.Leu989=)
c.2919G>T (p.Leu973=)
c.2784G>T (p.Leu928=)
c.2896-113G>T (n.2896-113G>T)
16g.28836011C>ACA395409026ATXN2Lc.2974C>A (p.His992Asn)
c.949C>A (p.His317Asn)
n.3348C>A
c.169C>A (p.His57Asn)
c.2992C>A (p.His998Asn)
c.2038C>A (n.2038C>A)
c.243C>A
c.952C>A (p.His318Asn)
c.494C>A
c.2995C>A (p.His999Asn)
c.2977C>A (p.His993Asn)
c.2815C>A (p.His939Asn)
c.2923C>A (p.His975Asn)
c.2905C>A (p.His969Asn)
c.2629C>A (p.His877Asn)
n.3204C>A
c.2797C>A (p.His933Asn)
c.2611C>A (p.His871Asn)
n.3207C>A
c.2902C>A (p.His968Asn)
c.2968C>A (p.His990Asn)
c.2920C>A (p.His974Asn)
c.2785C>A (p.His929Asn)
c.2896-112C>A (n.2896-112C>A)
 gnomAD v4
16g.28836011C>GCA395409028ATXN2Lc.2974C>G (p.His992Asp)
c.949C>G (p.His317Asp)
n.3348C>G
c.169C>G (p.His57Asp)
c.2992C>G (p.His998Asp)
c.2038C>G (n.2038C>G)
c.243C>G
c.952C>G (p.His318Asp)
c.494C>G
c.2995C>G (p.His999Asp)
c.2977C>G (p.His993Asp)
c.2815C>G (p.His939Asp)
c.2923C>G (p.His975Asp)
c.2905C>G (p.His969Asp)
c.2629C>G (p.His877Asp)
n.3204C>G
c.2797C>G (p.His933Asp)
c.2611C>G (p.His871Asp)
n.3207C>G
c.2902C>G (p.His968Asp)
c.2968C>G (p.His990Asp)
c.2920C>G (p.His974Asp)
c.2785C>G (p.His929Asp)
c.2896-112C>G (n.2896-112C>G)
16g.28836011C>TCA395409025ATXN2Lc.2974C>T (p.His992Tyr)
c.949C>T (p.His317Tyr)
n.3348C>T
c.169C>T (p.His57Tyr)
c.2992C>T (p.His998Tyr)
c.2038C>T (n.2038C>T)
c.243C>T
c.952C>T (p.His318Tyr)
c.494C>T
c.2995C>T (p.His999Tyr)
c.2977C>T (p.His993Tyr)
c.2815C>T (p.His939Tyr)
c.2923C>T (p.His975Tyr)
c.2905C>T (p.His969Tyr)
c.2629C>T (p.His877Tyr)
n.3204C>T
c.2797C>T (p.His933Tyr)
c.2611C>T (p.His871Tyr)
n.3207C>T
c.2902C>T (p.His968Tyr)
c.2968C>T (p.His990Tyr)
c.2920C>T (p.His974Tyr)
c.2785C>T (p.His929Tyr)
c.2896-112C>T (n.2896-112C>T)
 gnomAD v4
16g.28836012A>CCA395409031ATXN2Lc.2975A>C (p.His992Pro)
c.950A>C (p.His317Pro)
n.3349A>C
c.170A>C (p.His57Pro)
c.2993A>C (p.His998Pro)
c.2039A>C (n.2039A>C)
c.244A>C
c.953A>C (p.His318Pro)
c.495A>C
c.2996A>C (p.His999Pro)
c.2978A>C (p.His993Pro)
c.2816A>C (p.His939Pro)
c.2924A>C (p.His975Pro)
c.2906A>C (p.His969Pro)
c.2630A>C (p.His877Pro)
n.3205A>C
c.2798A>C (p.His933Pro)
c.2612A>C (p.His871Pro)
n.3208A>C
c.2903A>C (p.His968Pro)
c.2969A>C (p.His990Pro)
c.2921A>C (p.His974Pro)
c.2786A>C (p.His929Pro)
c.2896-111A>C (n.2896-111A>C)
16g.28836012A>GCA395409032ATXN2Lc.2975A>G (p.His992Arg)
c.950A>G (p.His317Arg)
n.3349A>G
c.170A>G (p.His57Arg)
c.2993A>G (p.His998Arg)
c.2039A>G (n.2039A>G)
c.244A>G
c.953A>G (p.His318Arg)
c.495A>G
c.2996A>G (p.His999Arg)
c.2978A>G (p.His993Arg)
c.2816A>G (p.His939Arg)
c.2924A>G (p.His975Arg)
c.2906A>G (p.His969Arg)
c.2630A>G (p.His877Arg)
n.3205A>G
c.2798A>G (p.His933Arg)
c.2612A>G (p.His871Arg)
n.3208A>G
c.2903A>G (p.His968Arg)
c.2969A>G (p.His990Arg)
c.2921A>G (p.His974Arg)
c.2786A>G (p.His929Arg)
c.2896-111A>G (n.2896-111A>G)
 gnomAD v4
16g.28836012A>TCA395409034ATXN2Lc.2975A>T (p.His992Leu)
c.950A>T (p.His317Leu)
n.3349A>T
c.170A>T (p.His57Leu)
c.2993A>T (p.His998Leu)
c.2039A>T (n.2039A>T)
c.244A>T
c.953A>T (p.His318Leu)
c.495A>T
c.2996A>T (p.His999Leu)
c.2978A>T (p.His993Leu)
c.2816A>T (p.His939Leu)
c.2924A>T (p.His975Leu)
c.2906A>T (p.His969Leu)
c.2630A>T (p.His877Leu)
n.3205A>T
c.2798A>T (p.His933Leu)
c.2612A>T (p.His871Leu)
n.3208A>T
c.2903A>T (p.His968Leu)
c.2969A>T (p.His990Leu)
c.2921A>T (p.His974Leu)
c.2786A>T (p.His929Leu)
c.2896-111A>T (n.2896-111A>T)
16g.28836013C>ACA395409037ATXN2Lc.2976C>A (p.His992Gln)
c.951C>A (p.His317Gln)
n.3350C>A
c.171C>A (p.His57Gln)
c.2994C>A (p.His998Gln)
c.2040C>A (n.2040C>A)
c.245C>A
c.954C>A (p.His318Gln)
c.496C>A
c.2997C>A (p.His999Gln)
c.2979C>A (p.His993Gln)
c.2817C>A (p.His939Gln)
c.2925C>A (p.His975Gln)
c.2907C>A (p.His969Gln)
c.2631C>A (p.His877Gln)
n.3206C>A
c.2799C>A (p.His933Gln)
c.2613C>A (p.His871Gln)
n.3209C>A
c.2904C>A (p.His968Gln)
c.2970C>A (p.His990Gln)
c.2922C>A (p.His974Gln)
c.2787C>A (p.His929Gln)
c.2896-110C>A (n.2896-110C>A)
16g.28836013C>GCA395409038ATXN2Lc.2976C>G (p.His992Gln)
c.951C>G (p.His317Gln)
n.3350C>G
c.171C>G (p.His57Gln)
c.2994C>G (p.His998Gln)
c.2040C>G (n.2040C>G)
c.245C>G
c.954C>G (p.His318Gln)
c.496C>G
c.2997C>G (p.His999Gln)
c.2979C>G (p.His993Gln)
c.2817C>G (p.His939Gln)
c.2925C>G (p.His975Gln)
c.2907C>G (p.His969Gln)
c.2631C>G (p.His877Gln)
n.3206C>G
c.2799C>G (p.His933Gln)
c.2613C>G (p.His871Gln)
n.3209C>G
c.2904C>G (p.His968Gln)
c.2970C>G (p.His990Gln)
c.2922C>G (p.His974Gln)
c.2787C>G (p.His929Gln)
c.2896-110C>G (n.2896-110C>G)
16g.28836013C>TCA494868850ATXN2Lc.2976C>T (p.His992=)
c.951C>T (p.His317=)
n.3350C>T
c.171C>T (p.His57=)
c.2994C>T (p.His998=)
c.2040C>T (n.2040C>T)
c.245C>T
c.954C>T (p.His318=)
c.496C>T
c.2997C>T (p.His999=)
c.2979C>T (p.His993=)
c.2817C>T (p.His939=)
c.2925C>T (p.His975=)
c.2907C>T (p.His969=)
c.2631C>T (p.His877=)
n.3206C>T
c.2799C>T (p.His933=)
c.2613C>T (p.His871=)
n.3209C>T
c.2904C>T (p.His968=)
c.2970C>T (p.His990=)
c.2922C>T (p.His974=)
c.2787C>T (p.His929=)
c.2896-110C>T (n.2896-110C>T)
16g.28836014C>ACA395409044ATXN2Lc.2977C>A (p.Pro993Thr)
c.952C>A (p.Pro318Thr)
n.3351C>A
c.172C>A (p.Pro58Thr)
c.2995C>A (p.Pro999Thr)
c.2041C>A (n.2041C>A)
c.246C>A
c.955C>A (p.Pro319Thr)
c.497C>A
c.2998C>A (p.Pro1000Thr)
c.2980C>A (p.Pro994Thr)
c.2818C>A (p.Pro940Thr)
c.2926C>A (p.Pro976Thr)
c.2908C>A (p.Pro970Thr)
c.2632C>A (p.Pro878Thr)
n.3207C>A
c.2800C>A (p.Pro934Thr)
c.2614C>A (p.Pro872Thr)
n.3210C>A
c.2905C>A (p.Pro969Thr)
c.2971C>A (p.Pro991Thr)
c.2923C>A (p.Pro975Thr)
c.2788C>A (p.Pro930Thr)
c.2896-109C>A (n.2896-109C>A)
16g.28836014C=CA2215806806ATXN2Lc.2977C= (p.Pro993=)
c.952C= (p.Pro318=)
n.3351C=
c.172C= (p.Pro58=)
c.2995C= (p.Pro999=)
c.2041C= (n.2041C=)
c.246C=
c.955C= (p.Pro319=)
c.497C=
c.2998C= (p.Pro1000=)
c.2980C= (p.Pro994=)
c.2818C= (p.Pro940=)
c.2926C= (p.Pro976=)
c.2908C= (p.Pro970=)
c.2632C= (p.Pro878=)
n.3207C=
c.2800C= (p.Pro934=)
c.2614C= (p.Pro872=)
n.3210C=
c.2905C= (p.Pro969=)
c.2971C= (p.Pro991=)
c.2923C= (p.Pro975=)
c.2788C= (p.Pro930=)
c.2896-109C= (n.2896-109C=)
16g.28836014C>GCA395409043ATXN2Lc.2977C>G (p.Pro993Ala)
c.952C>G (p.Pro318Ala)
n.3351C>G
c.172C>G (p.Pro58Ala)
c.2995C>G (p.Pro999Ala)
c.2041C>G (n.2041C>G)
c.246C>G
c.955C>G (p.Pro319Ala)
c.497C>G
c.2998C>G (p.Pro1000Ala)
c.2980C>G (p.Pro994Ala)
c.2818C>G (p.Pro940Ala)
c.2926C>G (p.Pro976Ala)
c.2908C>G (p.Pro970Ala)
c.2632C>G (p.Pro878Ala)
n.3207C>G
c.2800C>G (p.Pro934Ala)
c.2614C>G (p.Pro872Ala)
n.3210C>G
c.2905C>G (p.Pro969Ala)
c.2971C>G (p.Pro991Ala)
c.2923C>G (p.Pro975Ala)
c.2788C>G (p.Pro930Ala)
c.2896-109C>G (n.2896-109C>G)
 dbSNP
16g.28836014C>TCA395409041ATXN2Lc.2977C>T (p.Pro993Ser)
c.952C>T (p.Pro318Ser)
n.3351C>T
c.172C>T (p.Pro58Ser)
c.2995C>T (p.Pro999Ser)
c.2041C>T (n.2041C>T)
c.246C>T
c.955C>T (p.Pro319Ser)
c.497C>T
c.2998C>T (p.Pro1000Ser)
c.2980C>T (p.Pro994Ser)
c.2818C>T (p.Pro940Ser)
c.2926C>T (p.Pro976Ser)
c.2908C>T (p.Pro970Ser)
c.2632C>T (p.Pro878Ser)
n.3207C>T
c.2800C>T (p.Pro934Ser)
c.2614C>T (p.Pro872Ser)
n.3210C>T
c.2905C>T (p.Pro969Ser)
c.2971C>T (p.Pro991Ser)
c.2923C>T (p.Pro975Ser)
c.2788C>T (p.Pro930Ser)
c.2896-109C>T (n.2896-109C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.28836015C>ACA395409047ATXN2Lc.2978C>A (p.Pro993Gln)
c.953C>A (p.Pro318Gln)
n.3352C>A
c.173C>A (p.Pro58Gln)
c.2996C>A (p.Pro999Gln)
c.2042C>A (n.2042C>A)
c.247C>A
c.956C>A (p.Pro319Gln)
c.498C>A
c.2999C>A (p.Pro1000Gln)
c.2981C>A (p.Pro994Gln)
c.2819C>A (p.Pro940Gln)
c.2927C>A (p.Pro976Gln)
c.2909C>A (p.Pro970Gln)
c.2633C>A (p.Pro878Gln)
n.3208C>A
c.2801C>A (p.Pro934Gln)
c.2615C>A (p.Pro872Gln)
n.3211C>A
c.2906C>A (p.Pro969Gln)
c.2972C>A (p.Pro991Gln)
c.2924C>A (p.Pro975Gln)
c.2789C>A (p.Pro930Gln)
c.2896-108C>A (n.2896-108C>A)
16g.28836015C=CA2215806807ATXN2Lc.2978C= (p.Pro993=)
c.953C= (p.Pro318=)
n.3352C=
c.173C= (p.Pro58=)
c.2996C= (p.Pro999=)
c.2042C= (n.2042C=)
c.247C=
c.956C= (p.Pro319=)
c.498C=
c.2999C= (p.Pro1000=)
c.2981C= (p.Pro994=)
c.2819C= (p.Pro940=)
c.2927C= (p.Pro976=)
c.2909C= (p.Pro970=)
c.2633C= (p.Pro878=)
n.3208C=
c.2801C= (p.Pro934=)
c.2615C= (p.Pro872=)
n.3211C=
c.2906C= (p.Pro969=)
c.2972C= (p.Pro991=)
c.2924C= (p.Pro975=)
c.2789C= (p.Pro930=)
c.2896-108C= (n.2896-108C=)
16g.28836015C>GCA395409048ATXN2Lc.2978C>G (p.Pro993Arg)
c.953C>G (p.Pro318Arg)
n.3352C>G
c.173C>G (p.Pro58Arg)
c.2996C>G (p.Pro999Arg)
c.2042C>G (n.2042C>G)
c.247C>G
c.956C>G (p.Pro319Arg)
c.498C>G
c.2999C>G (p.Pro1000Arg)
c.2981C>G (p.Pro994Arg)
c.2819C>G (p.Pro940Arg)
c.2927C>G (p.Pro976Arg)
c.2909C>G (p.Pro970Arg)
c.2633C>G (p.Pro878Arg)
n.3208C>G
c.2801C>G (p.Pro934Arg)
c.2615C>G (p.Pro872Arg)
n.3211C>G
c.2906C>G (p.Pro969Arg)
c.2972C>G (p.Pro991Arg)
c.2924C>G (p.Pro975Arg)
c.2789C>G (p.Pro930Arg)
c.2896-108C>G (n.2896-108C>G)
 dbSNP
16g.28836015C>TCA395409050ATXN2Lc.2978C>T (p.Pro993Leu)
c.953C>T (p.Pro318Leu)
n.3352C>T
c.173C>T (p.Pro58Leu)
c.2996C>T (p.Pro999Leu)
c.2042C>T (n.2042C>T)
c.247C>T
c.956C>T (p.Pro319Leu)
c.498C>T
c.2999C>T (p.Pro1000Leu)
c.2981C>T (p.Pro994Leu)
c.2819C>T (p.Pro940Leu)
c.2927C>T (p.Pro976Leu)
c.2909C>T (p.Pro970Leu)
c.2633C>T (p.Pro878Leu)
n.3208C>T
c.2801C>T (p.Pro934Leu)
c.2615C>T (p.Pro872Leu)
n.3211C>T
c.2906C>T (p.Pro969Leu)
c.2972C>T (p.Pro991Leu)
c.2924C>T (p.Pro975Leu)
c.2789C>T (p.Pro930Leu)
c.2896-108C>T (n.2896-108C>T)
16g.28836016A=CA2215806809ATXN2Lc.2979A= (p.Pro993=)
c.954A= (p.Pro318=)
n.3353A=
c.174A= (p.Pro58=)
c.2997A= (p.Pro999=)
c.2043A= (n.2043A=)
c.248A=
c.957A= (p.Pro319=)
c.499A=
c.3000A= (p.Pro1000=)
c.2982A= (p.Pro994=)
c.2820A= (p.Pro940=)
c.2928A= (p.Pro976=)
c.2910A= (p.Pro970=)
c.2634A= (p.Pro878=)
n.3209A=
c.2802A= (p.Pro934=)
c.2616A= (p.Pro872=)
n.3212A=
c.2907A= (p.Pro969=)
c.2973A= (p.Pro991=)
c.2925A= (p.Pro975=)
c.2790A= (p.Pro930=)
c.2896-107A= (n.2896-107A=)
16g.28836016A>CCA494868877ATXN2Lc.2979A>C (p.Pro993=)
c.954A>C (p.Pro318=)
n.3353A>C
c.174A>C (p.Pro58=)
c.2997A>C (p.Pro999=)
c.2043A>C (n.2043A>C)
c.248A>C
c.957A>C (p.Pro319=)
c.499A>C
c.3000A>C (p.Pro1000=)
c.2982A>C (p.Pro994=)
c.2820A>C (p.Pro940=)
c.2928A>C (p.Pro976=)
c.2910A>C (p.Pro970=)
c.2634A>C (p.Pro878=)
n.3209A>C
c.2802A>C (p.Pro934=)
c.2616A>C (p.Pro872=)
n.3212A>C
c.2907A>C (p.Pro969=)
c.2973A>C (p.Pro991=)
c.2925A>C (p.Pro975=)
c.2790A>C (p.Pro930=)
c.2896-107A>C (n.2896-107A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28836016A>GCA494868880ATXN2Lc.2979A>G (p.Pro993=)
c.954A>G (p.Pro318=)
n.3353A>G
c.174A>G (p.Pro58=)
c.2997A>G (p.Pro999=)
c.2043A>G (n.2043A>G)
c.248A>G
c.957A>G (p.Pro319=)
c.499A>G
c.3000A>G (p.Pro1000=)
c.2982A>G (p.Pro994=)
c.2820A>G (p.Pro940=)
c.2928A>G (p.Pro976=)
c.2910A>G (p.Pro970=)
c.2634A>G (p.Pro878=)
n.3209A>G
c.2802A>G (p.Pro934=)
c.2616A>G (p.Pro872=)
n.3212A>G
c.2907A>G (p.Pro969=)
c.2973A>G (p.Pro991=)
c.2925A>G (p.Pro975=)
c.2790A>G (p.Pro930=)
c.2896-107A>G (n.2896-107A>G)
16g.28836016A>TCA494868885ATXN2Lc.2979A>T (p.Pro993=)
c.954A>T (p.Pro318=)
n.3353A>T
c.174A>T (p.Pro58=)
c.2997A>T (p.Pro999=)
c.2043A>T (n.2043A>T)
c.248A>T
c.957A>T (p.Pro319=)
c.499A>T
c.3000A>T (p.Pro1000=)
c.2982A>T (p.Pro994=)
c.2820A>T (p.Pro940=)
c.2928A>T (p.Pro976=)
c.2910A>T (p.Pro970=)
c.2634A>T (p.Pro878=)
n.3209A>T
c.2802A>T (p.Pro934=)
c.2616A>T (p.Pro872=)
n.3212A>T
c.2907A>T (p.Pro969=)
c.2973A>T (p.Pro991=)
c.2925A>T (p.Pro975=)
c.2790A>T (p.Pro930=)
c.2896-107A>T (n.2896-107A>T)
16g.28836017C>ACA395409051ATXN2Lc.2980C>A (p.Pro994Thr)
c.955C>A (p.Pro319Thr)
n.3354C>A
c.175C>A (p.Pro59Thr)
c.2998C>A (p.Pro1000Thr)
c.2044C>A (n.2044C>A)
c.249C>A
c.958C>A (p.Pro320Thr)
c.500C>A
c.3001C>A (p.Pro1001Thr)
c.2983C>A (p.Pro995Thr)
c.2821C>A (p.Pro941Thr)
c.2929C>A (p.Pro977Thr)
c.2911C>A (p.Pro971Thr)
c.2635C>A (p.Pro879Thr)
n.3210C>A
c.2803C>A (p.Pro935Thr)
c.2617C>A (p.Pro873Thr)
n.3213C>A
c.2908C>A (p.Pro970Thr)
c.2974C>A (p.Pro992Thr)
c.2926C>A (p.Pro976Thr)
c.2791C>A (p.Pro931Thr)
c.2896-106C>A (n.2896-106C>A)
 dbSNP gnomAD v2 gnomAD v4
16g.28836017C=CA2215806810ATXN2Lc.2980C= (p.Pro994=)
c.955C= (p.Pro319=)
n.3354C=
c.175C= (p.Pro59=)
c.2998C= (p.Pro1000=)
c.2044C= (n.2044C=)
c.249C=
c.958C= (p.Pro320=)
c.500C=
c.3001C= (p.Pro1001=)
c.2983C= (p.Pro995=)
c.2821C= (p.Pro941=)
c.2929C= (p.Pro977=)
c.2911C= (p.Pro971=)
c.2635C= (p.Pro879=)
n.3210C=
c.2803C= (p.Pro935=)
c.2617C= (p.Pro873=)
n.3213C=
c.2908C= (p.Pro970=)
c.2974C= (p.Pro992=)
c.2926C= (p.Pro976=)
c.2791C= (p.Pro931=)
c.2896-106C= (n.2896-106C=)
16g.28836017C>GCA395409052ATXN2Lc.2980C>G (p.Pro994Ala)
c.955C>G (p.Pro319Ala)
n.3354C>G
c.175C>G (p.Pro59Ala)
c.2998C>G (p.Pro1000Ala)
c.2044C>G (n.2044C>G)
c.249C>G
c.958C>G (p.Pro320Ala)
c.500C>G
c.3001C>G (p.Pro1001Ala)
c.2983C>G (p.Pro995Ala)
c.2821C>G (p.Pro941Ala)
c.2929C>G (p.Pro977Ala)
c.2911C>G (p.Pro971Ala)
c.2635C>G (p.Pro879Ala)
n.3210C>G
c.2803C>G (p.Pro935Ala)
c.2617C>G (p.Pro873Ala)
n.3213C>G
c.2908C>G (p.Pro970Ala)
c.2974C>G (p.Pro992Ala)
c.2926C>G (p.Pro976Ala)
c.2791C>G (p.Pro931Ala)
c.2896-106C>G (n.2896-106C>G)
16g.28836017C>TCA395409055ATXN2Lc.2980C>T (p.Pro994Ser)
c.955C>T (p.Pro319Ser)
n.3354C>T
c.175C>T (p.Pro59Ser)
c.2998C>T (p.Pro1000Ser)
c.2044C>T (n.2044C>T)
c.249C>T
c.958C>T (p.Pro320Ser)
c.500C>T
c.3001C>T (p.Pro1001Ser)
c.2983C>T (p.Pro995Ser)
c.2821C>T (p.Pro941Ser)
c.2929C>T (p.Pro977Ser)
c.2911C>T (p.Pro971Ser)
c.2635C>T (p.Pro879Ser)
n.3210C>T
c.2803C>T (p.Pro935Ser)
c.2617C>T (p.Pro873Ser)
n.3213C>T
c.2908C>T (p.Pro970Ser)
c.2974C>T (p.Pro992Ser)
c.2926C>T (p.Pro976Ser)
c.2791C>T (p.Pro931Ser)
c.2896-106C>T (n.2896-106C>T)
16g.28836018C>ACA395409057ATXN2Lc.2981C>A (p.Pro994His)
c.956C>A (p.Pro319His)
n.3355C>A
c.176C>A (p.Pro59His)
c.2999C>A (p.Pro1000His)
c.2045C>A (n.2045C>A)
c.250C>A
c.959C>A (p.Pro320His)
c.501C>A
c.3002C>A (p.Pro1001His)
c.2984C>A (p.Pro995His)
c.2822C>A (p.Pro941His)
c.2930C>A (p.Pro977His)
c.2912C>A (p.Pro971His)
c.2636C>A (p.Pro879His)
n.3211C>A
c.2804C>A (p.Pro935His)
c.2618C>A (p.Pro873His)
n.3214C>A
c.2909C>A (p.Pro970His)
c.2975C>A (p.Pro992His)
c.2927C>A (p.Pro976His)
c.2792C>A (p.Pro931His)
c.2896-105C>A (n.2896-105C>A)
16g.28836018C>GCA395409061ATXN2Lc.2981C>G (p.Pro994Arg)
c.956C>G (p.Pro319Arg)
n.3355C>G
c.176C>G (p.Pro59Arg)
c.2999C>G (p.Pro1000Arg)
c.2045C>G (n.2045C>G)
c.250C>G
c.959C>G (p.Pro320Arg)
c.501C>G
c.3002C>G (p.Pro1001Arg)
c.2984C>G (p.Pro995Arg)
c.2822C>G (p.Pro941Arg)
c.2930C>G (p.Pro977Arg)
c.2912C>G (p.Pro971Arg)
c.2636C>G (p.Pro879Arg)
n.3211C>G
c.2804C>G (p.Pro935Arg)
c.2618C>G (p.Pro873Arg)
n.3214C>G
c.2909C>G (p.Pro970Arg)
c.2975C>G (p.Pro992Arg)
c.2927C>G (p.Pro976Arg)
c.2792C>G (p.Pro931Arg)
c.2896-105C>G (n.2896-105C>G)
16g.28836018C>TCA395409059ATXN2Lc.2981C>T (p.Pro994Leu)
c.956C>T (p.Pro319Leu)
n.3355C>T
c.176C>T (p.Pro59Leu)
c.2999C>T (p.Pro1000Leu)
c.2045C>T (n.2045C>T)
c.250C>T
c.959C>T (p.Pro320Leu)
c.501C>T
c.3002C>T (p.Pro1001Leu)
c.2984C>T (p.Pro995Leu)
c.2822C>T (p.Pro941Leu)
c.2930C>T (p.Pro977Leu)
c.2912C>T (p.Pro971Leu)
c.2636C>T (p.Pro879Leu)
n.3211C>T
c.2804C>T (p.Pro935Leu)
c.2618C>T (p.Pro873Leu)
n.3214C>T
c.2909C>T (p.Pro970Leu)
c.2975C>T (p.Pro992Leu)
c.2927C>T (p.Pro976Leu)
c.2792C>T (p.Pro931Leu)
c.2896-105C>T (n.2896-105C>T)
 gnomAD v4
16g.28836019C>ACA494868926ATXN2Lc.2982C>A (p.Pro994=)
c.957C>A (p.Pro319=)
n.3356C>A
c.177C>A (p.Pro59=)
c.3000C>A (p.Pro1000=)
c.2046C>A (n.2046C>A)
c.251C>A
c.960C>A (p.Pro320=)
c.502C>A
c.3003C>A (p.Pro1001=)
c.2985C>A (p.Pro995=)
c.2823C>A (p.Pro941=)
c.2931C>A (p.Pro977=)
c.2913C>A (p.Pro971=)
c.2637C>A (p.Pro879=)
n.3212C>A
c.2805C>A (p.Pro935=)
c.2619C>A (p.Pro873=)
n.3215C>A
c.2910C>A (p.Pro970=)
c.2976C>A (p.Pro992=)
c.2928C>A (p.Pro976=)
c.2793C>A (p.Pro931=)
c.2896-104C>A (n.2896-104C>A)
16g.28836019C=CA2215806813ATXN2Lc.2982C= (p.Pro994=)
c.957C= (p.Pro319=)
n.3356C=
c.177C= (p.Pro59=)
c.3000C= (p.Pro1000=)
c.2046C= (n.2046C=)
c.251C=
c.960C= (p.Pro320=)
c.502C=
c.3003C= (p.Pro1001=)
c.2985C= (p.Pro995=)
c.2823C= (p.Pro941=)
c.2931C= (p.Pro977=)
c.2913C= (p.Pro971=)
c.2637C= (p.Pro879=)
n.3212C=
c.2805C= (p.Pro935=)
c.2619C= (p.Pro873=)
n.3215C=
c.2910C= (p.Pro970=)
c.2976C= (p.Pro992=)
c.2928C= (p.Pro976=)
c.2793C= (p.Pro931=)
c.2896-104C= (n.2896-104C=)
16g.28836019C>GCA494868924ATXN2Lc.2982C>G (p.Pro994=)
c.957C>G (p.Pro319=)
n.3356C>G
c.177C>G (p.Pro59=)
c.3000C>G (p.Pro1000=)
c.2046C>G (n.2046C>G)
c.251C>G
c.960C>G (p.Pro320=)
c.502C>G
c.3003C>G (p.Pro1001=)
c.2985C>G (p.Pro995=)
c.2823C>G (p.Pro941=)
c.2931C>G (p.Pro977=)
c.2913C>G (p.Pro971=)
c.2637C>G (p.Pro879=)
n.3212C>G
c.2805C>G (p.Pro935=)
c.2619C>G (p.Pro873=)
n.3215C>G
c.2910C>G (p.Pro970=)
c.2976C>G (p.Pro992=)
c.2928C>G (p.Pro976=)
c.2793C>G (p.Pro931=)
c.2896-104C>G (n.2896-104C>G)
 dbSNP
16g.28836019C>TCA494868922ATXN2Lc.2982C>T (p.Pro994=)
c.957C>T (p.Pro319=)
n.3356C>T
c.177C>T (p.Pro59=)
c.3000C>T (p.Pro1000=)
c.2046C>T (n.2046C>T)
c.251C>T
c.960C>T (p.Pro320=)
c.502C>T
c.3003C>T (p.Pro1001=)
c.2985C>T (p.Pro995=)
c.2823C>T (p.Pro941=)
c.2931C>T (p.Pro977=)
c.2913C>T (p.Pro971=)
c.2637C>T (p.Pro879=)
n.3212C>T
c.2805C>T (p.Pro935=)
c.2619C>T (p.Pro873=)
n.3215C>T
c.2910C>T (p.Pro970=)
c.2976C>T (p.Pro992=)
c.2928C>T (p.Pro976=)
c.2793C>T (p.Pro931=)
c.2896-104C>T (n.2896-104C>T)
16g.28836020C>ACA395409062ATXN2Lc.2983C>A (p.Gln995Lys)
c.958C>A (p.Gln320Lys)
n.3357C>A
c.178C>A (p.Gln60Lys)
c.3001C>A (p.Gln1001Lys)
c.2047C>A (n.2047C>A)
c.252C>A
c.961C>A (p.Gln321Lys)
c.503C>A
c.3004C>A (p.Gln1002Lys)
c.2986C>A (p.Gln996Lys)
c.2824C>A (p.Gln942Lys)
c.2932C>A (p.Gln978Lys)
c.2914C>A (p.Gln972Lys)
c.2638C>A (p.Gln880Lys)
n.3213C>A
c.2806C>A (p.Gln936Lys)
c.2620C>A (p.Gln874Lys)
n.3216C>A
c.2911C>A (p.Gln971Lys)
c.2977C>A (p.Gln993Lys)
c.2929C>A (p.Gln977Lys)
c.2794C>A (p.Gln932Lys)
c.2896-103C>A (n.2896-103C>A)
16g.28836020C>GCA395409063ATXN2Lc.2983C>G (p.Gln995Glu)
c.958C>G (p.Gln320Glu)
n.3357C>G
c.178C>G (p.Gln60Glu)
c.3001C>G (p.Gln1001Glu)
c.2047C>G (n.2047C>G)
c.252C>G
c.961C>G (p.Gln321Glu)
c.503C>G
c.3004C>G (p.Gln1002Glu)
c.2986C>G (p.Gln996Glu)
c.2824C>G (p.Gln942Glu)
c.2932C>G (p.Gln978Glu)
c.2914C>G (p.Gln972Glu)
c.2638C>G (p.Gln880Glu)
n.3213C>G
c.2806C>G (p.Gln936Glu)
c.2620C>G (p.Gln874Glu)
n.3216C>G
c.2911C>G (p.Gln971Glu)
c.2977C>G (p.Gln993Glu)
c.2929C>G (p.Gln977Glu)
c.2794C>G (p.Gln932Glu)
c.2896-103C>G (n.2896-103C>G)
16g.28836020C>TCA395409065ATXN2Lc.2983C>T (p.Gln995Ter)
c.958C>T (p.Gln320Ter)
n.3357C>T
c.178C>T (p.Gln60Ter)
c.3001C>T (p.Gln1001Ter)
c.2047C>T (n.2047C>T)
c.252C>T
c.961C>T (p.Gln321Ter)
c.503C>T
c.3004C>T (p.Gln1002Ter)
c.2986C>T (p.Gln996Ter)
c.2824C>T (p.Gln942Ter)
c.2932C>T (p.Gln978Ter)
c.2914C>T (p.Gln972Ter)
c.2638C>T (p.Gln880Ter)
n.3213C>T
c.2806C>T (p.Gln936Ter)
c.2620C>T (p.Gln874Ter)
n.3216C>T
c.2911C>T (p.Gln971Ter)
c.2977C>T (p.Gln993Ter)
c.2929C>T (p.Gln977Ter)
c.2794C>T (p.Gln932Ter)
c.2896-103C>T (n.2896-103C>T)
 COSMIC COSMIC
16g.28836021A=CA2215806815ATXN2Lc.2984A= (p.Gln995=)
c.959A= (p.Gln320=)
n.3358A=
c.179A= (p.Gln60=)
c.3002A= (p.Gln1001=)
c.2048A= (n.2048A=)
c.253A=
c.962A= (p.Gln321=)
c.504A=
c.3005A= (p.Gln1002=)
c.2987A= (p.Gln996=)
c.2825A= (p.Gln942=)
c.2933A= (p.Gln978=)
c.2915A= (p.Gln972=)
c.2639A= (p.Gln880=)
n.3214A=
c.2807A= (p.Gln936=)
c.2621A= (p.Gln874=)
n.3217A=
c.2912A= (p.Gln971=)
c.2978A= (p.Gln993=)
c.2930A= (p.Gln977=)
c.2795A= (p.Gln932=)
c.2896-102A= (n.2896-102A=)
16g.28836021A>CCA395409068ATXN2Lc.2984A>C (p.Gln995Pro)
c.959A>C (p.Gln320Pro)
n.3358A>C
c.179A>C (p.Gln60Pro)
c.3002A>C (p.Gln1001Pro)
c.2048A>C (n.2048A>C)
c.253A>C
c.962A>C (p.Gln321Pro)
c.504A>C
c.3005A>C (p.Gln1002Pro)
c.2987A>C (p.Gln996Pro)
c.2825A>C (p.Gln942Pro)
c.2933A>C (p.Gln978Pro)
c.2915A>C (p.Gln972Pro)
c.2639A>C (p.Gln880Pro)
n.3214A>C
c.2807A>C (p.Gln936Pro)
c.2621A>C (p.Gln874Pro)
n.3217A>C
c.2912A>C (p.Gln971Pro)
c.2978A>C (p.Gln993Pro)
c.2930A>C (p.Gln977Pro)
c.2795A>C (p.Gln932Pro)
c.2896-102A>C (n.2896-102A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28836021A>GCA395409069ATXN2Lc.2984A>G (p.Gln995Arg)
c.959A>G (p.Gln320Arg)
n.3358A>G
c.179A>G (p.Gln60Arg)
c.3002A>G (p.Gln1001Arg)
c.2048A>G (n.2048A>G)
c.253A>G
c.962A>G (p.Gln321Arg)
c.504A>G
c.3005A>G (p.Gln1002Arg)
c.2987A>G (p.Gln996Arg)
c.2825A>G (p.Gln942Arg)
c.2933A>G (p.Gln978Arg)
c.2915A>G (p.Gln972Arg)
c.2639A>G (p.Gln880Arg)
n.3214A>G
c.2807A>G (p.Gln936Arg)
c.2621A>G (p.Gln874Arg)
n.3217A>G
c.2912A>G (p.Gln971Arg)
c.2978A>G (p.Gln993Arg)
c.2930A>G (p.Gln977Arg)
c.2795A>G (p.Gln932Arg)
c.2896-102A>G (n.2896-102A>G)
16g.28836021A>TCA395409071ATXN2Lc.2984A>T (p.Gln995Leu)
c.959A>T (p.Gln320Leu)
n.3358A>T
c.179A>T (p.Gln60Leu)
c.3002A>T (p.Gln1001Leu)
c.2048A>T (n.2048A>T)
c.253A>T
c.962A>T (p.Gln321Leu)
c.504A>T
c.3005A>T (p.Gln1002Leu)
c.2987A>T (p.Gln996Leu)
c.2825A>T (p.Gln942Leu)
c.2933A>T (p.Gln978Leu)
c.2915A>T (p.Gln972Leu)
c.2639A>T (p.Gln880Leu)
n.3214A>T
c.2807A>T (p.Gln936Leu)
c.2621A>T (p.Gln874Leu)
n.3217A>T
c.2912A>T (p.Gln971Leu)
c.2978A>T (p.Gln993Leu)
c.2930A>T (p.Gln977Leu)
c.2795A>T (p.Gln932Leu)
c.2896-102A>T (n.2896-102A>T)
16g.28836022G>ACA494868942ATXN2Lc.2985G>A (p.Gln995=)
c.960G>A (p.Gln320=)
n.3359G>A
c.180G>A (p.Gln60=)
c.3003G>A (p.Gln1001=)
c.2049G>A (n.2049G>A)
c.254G>A
c.963G>A (p.Gln321=)
c.505G>A
c.3006G>A (p.Gln1002=)
c.2988G>A (p.Gln996=)
c.2826G>A (p.Gln942=)
c.2934G>A (p.Gln978=)
c.2916G>A (p.Gln972=)
c.2640G>A (p.Gln880=)
n.3215G>A
c.2808G>A (p.Gln936=)
c.2622G>A (p.Gln874=)
n.3218G>A
c.2913G>A (p.Gln971=)
c.2979G>A (p.Gln993=)
c.2931G>A (p.Gln977=)
c.2796G>A (p.Gln932=)
c.2896-101G>A (n.2896-101G>A)
16g.28836022G>CCA395409073ATXN2Lc.2985G>C (p.Gln995His)
c.960G>C (p.Gln320His)
n.3359G>C
c.180G>C (p.Gln60His)
c.3003G>C (p.Gln1001His)
c.2049G>C (n.2049G>C)
c.254G>C
c.963G>C (p.Gln321His)
c.505G>C
c.3006G>C (p.Gln1002His)
c.2988G>C (p.Gln996His)
c.2826G>C (p.Gln942His)
c.2934G>C (p.Gln978His)
c.2916G>C (p.Gln972His)
c.2640G>C (p.Gln880His)
n.3215G>C
c.2808G>C (p.Gln936His)
c.2622G>C (p.Gln874His)
n.3218G>C
c.2913G>C (p.Gln971His)
c.2979G>C (p.Gln993His)
c.2931G>C (p.Gln977His)
c.2796G>C (p.Gln932His)
c.2896-101G>C (n.2896-101G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836022G=CA2215806818ATXN2Lc.2985G= (p.Gln995=)
c.960G= (p.Gln320=)
n.3359G=
c.180G= (p.Gln60=)
c.3003G= (p.Gln1001=)
c.2049G= (n.2049G=)
c.254G=
c.963G= (p.Gln321=)
c.505G=
c.3006G= (p.Gln1002=)
c.2988G= (p.Gln996=)
c.2826G= (p.Gln942=)
c.2934G= (p.Gln978=)
c.2916G= (p.Gln972=)
c.2640G= (p.Gln880=)
n.3215G=
c.2808G= (p.Gln936=)
c.2622G= (p.Gln874=)
n.3218G=
c.2913G= (p.Gln971=)
c.2979G= (p.Gln993=)
c.2931G= (p.Gln977=)
c.2796G= (p.Gln932=)
c.2896-101G= (n.2896-101G=)
16g.28836022G>TCA395409075ATXN2Lc.2985G>T (p.Gln995His)
c.960G>T (p.Gln320His)
n.3359G>T
c.180G>T (p.Gln60His)
c.3003G>T (p.Gln1001His)
c.2049G>T (n.2049G>T)
c.254G>T
c.963G>T (p.Gln321His)
c.505G>T
c.3006G>T (p.Gln1002His)
c.2988G>T (p.Gln996His)
c.2826G>T (p.Gln942His)
c.2934G>T (p.Gln978His)
c.2916G>T (p.Gln972His)
c.2640G>T (p.Gln880His)
n.3215G>T
c.2808G>T (p.Gln936His)
c.2622G>T (p.Gln874His)
n.3218G>T
c.2913G>T (p.Gln971His)
c.2979G>T (p.Gln993His)
c.2931G>T (p.Gln977His)
c.2796G>T (p.Gln932His)
c.2896-101G>T (n.2896-101G>T)
16g.28836023A>CCA395409076ATXN2Lc.2986A>C (p.Ser996Arg)
c.961A>C (p.Ser321Arg)
n.3360A>C
c.181A>C (p.Ser61Arg)
c.3004A>C (p.Ser1002Arg)
c.2050A>C (n.2050A>C)
c.255A>C
c.964A>C (p.Ser322Arg)
c.506A>C
c.3007A>C (p.Ser1003Arg)
c.2989A>C (p.Ser997Arg)
c.2827A>C (p.Ser943Arg)
c.2935A>C (p.Ser979Arg)
c.2917A>C (p.Ser973Arg)
c.2641A>C (p.Ser881Arg)
n.3216A>C
c.2809A>C (p.Ser937Arg)
c.2623A>C (p.Ser875Arg)
n.3219A>C
c.2914A>C (p.Ser972Arg)
c.2980A>C (p.Ser994Arg)
c.2932A>C (p.Ser978Arg)
c.2797A>C (p.Ser933Arg)
c.2896-100A>C (n.2896-100A>C)
16g.28836023A>GCA395409078ATXN2Lc.2986A>G (p.Ser996Gly)
c.961A>G (p.Ser321Gly)
n.3360A>G
c.181A>G (p.Ser61Gly)
c.3004A>G (p.Ser1002Gly)
c.2050A>G (n.2050A>G)
c.255A>G
c.964A>G (p.Ser322Gly)
c.506A>G
c.3007A>G (p.Ser1003Gly)
c.2989A>G (p.Ser997Gly)
c.2827A>G (p.Ser943Gly)
c.2935A>G (p.Ser979Gly)
c.2917A>G (p.Ser973Gly)
c.2641A>G (p.Ser881Gly)
n.3216A>G
c.2809A>G (p.Ser937Gly)
c.2623A>G (p.Ser875Gly)
n.3219A>G
c.2914A>G (p.Ser972Gly)
c.2980A>G (p.Ser994Gly)
c.2932A>G (p.Ser978Gly)
c.2797A>G (p.Ser933Gly)
c.2896-100A>G (n.2896-100A>G)
16g.28836023A>TCA395409080ATXN2Lc.2986A>T (p.Ser996Cys)
c.961A>T (p.Ser321Cys)
n.3360A>T
c.181A>T (p.Ser61Cys)
c.3004A>T (p.Ser1002Cys)
c.2050A>T (n.2050A>T)
c.255A>T
c.964A>T (p.Ser322Cys)
c.506A>T
c.3007A>T (p.Ser1003Cys)
c.2989A>T (p.Ser997Cys)
c.2827A>T (p.Ser943Cys)
c.2935A>T (p.Ser979Cys)
c.2917A>T (p.Ser973Cys)
c.2641A>T (p.Ser881Cys)
n.3216A>T
c.2809A>T (p.Ser937Cys)
c.2623A>T (p.Ser875Cys)
n.3219A>T
c.2914A>T (p.Ser972Cys)
c.2980A>T (p.Ser994Cys)
c.2932A>T (p.Ser978Cys)
c.2797A>T (p.Ser933Cys)
c.2896-100A>T (n.2896-100A>T)
16g.28836024G>ACA395409086ATXN2Lc.2987G>A (p.Ser996Asn)
c.962G>A (p.Ser321Asn)
n.3361G>A
c.182G>A (p.Ser61Asn)
c.3005G>A (p.Ser1002Asn)
c.2051G>A (n.2051G>A)
c.256G>A
c.965G>A (p.Ser322Asn)
c.507G>A
c.3008G>A (p.Ser1003Asn)
c.2990G>A (p.Ser997Asn)
c.2828G>A (p.Ser943Asn)
c.2936G>A (p.Ser979Asn)
c.2918G>A (p.Ser973Asn)
c.2642G>A (p.Ser881Asn)
n.3217G>A
c.2810G>A (p.Ser937Asn)
c.2624G>A (p.Ser875Asn)
n.3220G>A
c.2915G>A (p.Ser972Asn)
c.2981G>A (p.Ser994Asn)
c.2933G>A (p.Ser978Asn)
c.2798G>A (p.Ser933Asn)
c.2896-99G>A (n.2896-99G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.28836024G>CCA395409084ATXN2Lc.2987G>C (p.Ser996Thr)
c.962G>C (p.Ser321Thr)
n.3361G>C
c.182G>C (p.Ser61Thr)
c.3005G>C (p.Ser1002Thr)
c.2051G>C (n.2051G>C)
c.256G>C
c.965G>C (p.Ser322Thr)
c.507G>C
c.3008G>C (p.Ser1003Thr)
c.2990G>C (p.Ser997Thr)
c.2828G>C (p.Ser943Thr)
c.2936G>C (p.Ser979Thr)
c.2918G>C (p.Ser973Thr)
c.2642G>C (p.Ser881Thr)
n.3217G>C
c.2810G>C (p.Ser937Thr)
c.2624G>C (p.Ser875Thr)
n.3220G>C
c.2915G>C (p.Ser972Thr)
c.2981G>C (p.Ser994Thr)
c.2933G>C (p.Ser978Thr)
c.2798G>C (p.Ser933Thr)
c.2896-99G>C (n.2896-99G>C)
 gnomAD v4
16g.28836024G=CA2215806819ATXN2Lc.2987G= (p.Ser996=)
c.962G= (p.Ser321=)
n.3361G=
c.182G= (p.Ser61=)
c.3005G= (p.Ser1002=)
c.2051G= (n.2051G=)
c.256G=
c.965G= (p.Ser322=)
c.507G=
c.3008G= (p.Ser1003=)
c.2990G= (p.Ser997=)
c.2828G= (p.Ser943=)
c.2936G= (p.Ser979=)
c.2918G= (p.Ser973=)
c.2642G= (p.Ser881=)
n.3217G=
c.2810G= (p.Ser937=)
c.2624G= (p.Ser875=)
n.3220G=
c.2915G= (p.Ser972=)
c.2981G= (p.Ser994=)
c.2933G= (p.Ser978=)
c.2798G= (p.Ser933=)
c.2896-99G= (n.2896-99G=)
16g.28836024G>TCA395409082ATXN2Lc.2987G>T (p.Ser996Ile)
c.962G>T (p.Ser321Ile)
n.3361G>T
c.182G>T (p.Ser61Ile)
c.3005G>T (p.Ser1002Ile)
c.2051G>T (n.2051G>T)
c.256G>T
c.965G>T (p.Ser322Ile)
c.507G>T
c.3008G>T (p.Ser1003Ile)
c.2990G>T (p.Ser997Ile)
c.2828G>T (p.Ser943Ile)
c.2936G>T (p.Ser979Ile)
c.2918G>T (p.Ser973Ile)
c.2642G>T (p.Ser881Ile)
n.3217G>T
c.2810G>T (p.Ser937Ile)
c.2624G>T (p.Ser875Ile)
n.3220G>T
c.2915G>T (p.Ser972Ile)
c.2981G>T (p.Ser994Ile)
c.2933G>T (p.Ser978Ile)
c.2798G>T (p.Ser933Ile)
c.2896-99G>T (n.2896-99G>T)
16g.28836025T>ACA395409088ATXN2Lc.2988T>A (p.Ser996Arg)
c.963T>A (p.Ser321Arg)
n.3362T>A
c.183T>A (p.Ser61Arg)
c.3006T>A (p.Ser1002Arg)
c.2052T>A (n.2052T>A)
c.257T>A
c.966T>A (p.Ser322Arg)
c.508T>A
c.3009T>A (p.Ser1003Arg)
c.2991T>A (p.Ser997Arg)
c.2829T>A (p.Ser943Arg)
c.2937T>A (p.Ser979Arg)
c.2919T>A (p.Ser973Arg)
c.2643T>A (p.Ser881Arg)
n.3218T>A
c.2811T>A (p.Ser937Arg)
c.2625T>A (p.Ser875Arg)
n.3221T>A
c.2916T>A (p.Ser972Arg)
c.2982T>A (p.Ser994Arg)
c.2934T>A (p.Ser978Arg)
c.2799T>A (p.Ser933Arg)
c.2896-98T>A (n.2896-98T>A)
16g.28836025T>CCA494868979ATXN2Lc.2988T>C (p.Ser996=)
c.963T>C (p.Ser321=)
n.3362T>C
c.183T>C (p.Ser61=)
c.3006T>C (p.Ser1002=)
c.2052T>C (n.2052T>C)
c.257T>C
c.966T>C (p.Ser322=)
c.508T>C
c.3009T>C (p.Ser1003=)
c.2991T>C (p.Ser997=)
c.2829T>C (p.Ser943=)
c.2937T>C (p.Ser979=)
c.2919T>C (p.Ser973=)
c.2643T>C (p.Ser881=)
n.3218T>C
c.2811T>C (p.Ser937=)
c.2625T>C (p.Ser875=)
n.3221T>C
c.2916T>C (p.Ser972=)
c.2982T>C (p.Ser994=)
c.2934T>C (p.Ser978=)
c.2799T>C (p.Ser933=)
c.2896-98T>C (n.2896-98T>C)
 COSMIC COSMIC COSMIC COSMIC
16g.28836025T>GCA395409089ATXN2Lc.2988T>G (p.Ser996Arg)
c.963T>G (p.Ser321Arg)
n.3362T>G
c.183T>G (p.Ser61Arg)
c.3006T>G (p.Ser1002Arg)
c.2052T>G (n.2052T>G)
c.257T>G
c.966T>G (p.Ser322Arg)
c.508T>G
c.3009T>G (p.Ser1003Arg)
c.2991T>G (p.Ser997Arg)
c.2829T>G (p.Ser943Arg)
c.2937T>G (p.Ser979Arg)
c.2919T>G (p.Ser973Arg)
c.2643T>G (p.Ser881Arg)
n.3218T>G
c.2811T>G (p.Ser937Arg)
c.2625T>G (p.Ser875Arg)
n.3221T>G
c.2916T>G (p.Ser972Arg)
c.2982T>G (p.Ser994Arg)
c.2934T>G (p.Ser978Arg)
c.2799T>G (p.Ser933Arg)
c.2896-98T>G (n.2896-98T>G)
16g.28836026C>ACA395409092ATXN2Lc.2989C>A (p.His997Asn)
c.964C>A (p.His322Asn)
n.3363C>A
c.184C>A (p.His62Asn)
c.3007C>A (p.His1003Asn)
c.2053C>A (n.2053C>A)
c.258C>A
c.967C>A (p.His323Asn)
c.509C>A
c.3010C>A (p.His1004Asn)
c.2992C>A (p.His998Asn)
c.2830C>A (p.His944Asn)
c.2938C>A (p.His980Asn)
c.2920C>A (p.His974Asn)
c.2644C>A (p.His882Asn)
n.3219C>A
c.2812C>A (p.His938Asn)
c.2626C>A (p.His876Asn)
n.3222C>A
c.2917C>A (p.His973Asn)
c.2983C>A (p.His995Asn)
c.2935C>A (p.His979Asn)
c.2800C>A (p.His934Asn)
c.2896-97C>A (n.2896-97C>A)
 gnomAD v4
16g.28836026C>GCA395409095ATXN2Lc.2989C>G (p.His997Asp)
c.964C>G (p.His322Asp)
n.3363C>G
c.184C>G (p.His62Asp)
c.3007C>G (p.His1003Asp)
c.2053C>G (n.2053C>G)
c.258C>G
c.967C>G (p.His323Asp)
c.509C>G
c.3010C>G (p.His1004Asp)
c.2992C>G (p.His998Asp)
c.2830C>G (p.His944Asp)
c.2938C>G (p.His980Asp)
c.2920C>G (p.His974Asp)
c.2644C>G (p.His882Asp)
n.3219C>G
c.2812C>G (p.His938Asp)
c.2626C>G (p.His876Asp)
n.3222C>G
c.2917C>G (p.His973Asp)
c.2983C>G (p.His995Asp)
c.2935C>G (p.His979Asp)
c.2800C>G (p.His934Asp)
c.2896-97C>G (n.2896-97C>G)
16g.28836026C>TCA395409094ATXN2Lc.2989C>T (p.His997Tyr)
c.964C>T (p.His322Tyr)
n.3363C>T
c.184C>T (p.His62Tyr)
c.3007C>T (p.His1003Tyr)
c.2053C>T (n.2053C>T)
c.258C>T
c.967C>T (p.His323Tyr)
c.509C>T
c.3010C>T (p.His1004Tyr)
c.2992C>T (p.His998Tyr)
c.2830C>T (p.His944Tyr)
c.2938C>T (p.His980Tyr)
c.2920C>T (p.His974Tyr)
c.2644C>T (p.His882Tyr)
n.3219C>T
c.2812C>T (p.His938Tyr)
c.2626C>T (p.His876Tyr)
n.3222C>T
c.2917C>T (p.His973Tyr)
c.2983C>T (p.His995Tyr)
c.2935C>T (p.His979Tyr)
c.2800C>T (p.His934Tyr)
c.2896-97C>T (n.2896-97C>T)
 gnomAD v4
16g.28836027A=CA2215806821ATXN2Lc.2990A= (p.His997=)
c.965A= (p.His322=)
n.3364A=
c.185A= (p.His62=)
c.3008A= (p.His1003=)
c.2054A= (n.2054A=)
c.259A=
c.968A= (p.His323=)
c.510A=
c.3011A= (p.His1004=)
c.2993A= (p.His998=)
c.2831A= (p.His944=)
c.2939A= (p.His980=)
c.2921A= (p.His974=)
c.2645A= (p.His882=)
n.3220A=
c.2813A= (p.His938=)
c.2627A= (p.His876=)
n.3223A=
c.2918A= (p.His973=)
c.2984A= (p.His995=)
c.2936A= (p.His979=)
c.2801A= (p.His934=)
c.2896-96A= (n.2896-96A=)
16g.28836027A>CCA395409098ATXN2Lc.2990A>C (p.His997Pro)
c.965A>C (p.His322Pro)
n.3364A>C
c.185A>C (p.His62Pro)
c.3008A>C (p.His1003Pro)
c.2054A>C (n.2054A>C)
c.259A>C
c.968A>C (p.His323Pro)
c.510A>C
c.3011A>C (p.His1004Pro)
c.2993A>C (p.His998Pro)
c.2831A>C (p.His944Pro)
c.2939A>C (p.His980Pro)
c.2921A>C (p.His974Pro)
c.2645A>C (p.His882Pro)
n.3220A>C
c.2813A>C (p.His938Pro)
c.2627A>C (p.His876Pro)
n.3223A>C
c.2918A>C (p.His973Pro)
c.2984A>C (p.His995Pro)
c.2936A>C (p.His979Pro)
c.2801A>C (p.His934Pro)
c.2896-96A>C (n.2896-96A>C)
 dbSNP
16g.28836027A>GCA395409100ATXN2Lc.2990A>G (p.His997Arg)
c.965A>G (p.His322Arg)
n.3364A>G
c.185A>G (p.His62Arg)
c.3008A>G (p.His1003Arg)
c.2054A>G (n.2054A>G)
c.259A>G
c.968A>G (p.His323Arg)
c.510A>G
c.3011A>G (p.His1004Arg)
c.2993A>G (p.His998Arg)
c.2831A>G (p.His944Arg)
c.2939A>G (p.His980Arg)
c.2921A>G (p.His974Arg)
c.2645A>G (p.His882Arg)
n.3220A>G
c.2813A>G (p.His938Arg)
c.2627A>G (p.His876Arg)
n.3223A>G
c.2918A>G (p.His973Arg)
c.2984A>G (p.His995Arg)
c.2936A>G (p.His979Arg)
c.2801A>G (p.His934Arg)
c.2896-96A>G (n.2896-96A>G)
 gnomAD v4
16g.28836027A>TCA395409101ATXN2Lc.2990A>T (p.His997Leu)
c.965A>T (p.His322Leu)
n.3364A>T
c.185A>T (p.His62Leu)
c.3008A>T (p.His1003Leu)
c.2054A>T (n.2054A>T)
c.259A>T
c.968A>T (p.His323Leu)
c.510A>T
c.3011A>T (p.His1004Leu)
c.2993A>T (p.His998Leu)
c.2831A>T (p.His944Leu)
c.2939A>T (p.His980Leu)
c.2921A>T (p.His974Leu)
c.2645A>T (p.His882Leu)
n.3220A>T
c.2813A>T (p.His938Leu)
c.2627A>T (p.His876Leu)
n.3223A>T
c.2918A>T (p.His973Leu)
c.2984A>T (p.His995Leu)
c.2936A>T (p.His979Leu)
c.2801A>T (p.His934Leu)
c.2896-96A>T (n.2896-96A>T)
16g.28836028T>ACA395409103ATXN2Lc.2991T>A (p.His997Gln)
c.966T>A (p.His322Gln)
n.3365T>A
c.186T>A (p.His62Gln)
c.3009T>A (p.His1003Gln)
c.2055T>A (n.2055T>A)
c.260T>A
c.969T>A (p.His323Gln)
c.511T>A
c.3012T>A (p.His1004Gln)
c.2994T>A (p.His998Gln)
c.2832T>A (p.His944Gln)
c.2940T>A (p.His980Gln)
c.2922T>A (p.His974Gln)
c.2646T>A (p.His882Gln)
n.3221T>A
c.2814T>A (p.His938Gln)
c.2628T>A (p.His876Gln)
n.3224T>A
c.2919T>A (p.His973Gln)
c.2985T>A (p.His995Gln)
c.2937T>A (p.His979Gln)
c.2802T>A (p.His934Gln)
c.2896-95T>A (n.2896-95T>A)
 dbSNP gnomAD v4
16g.28836028T>CCA494869008ATXN2Lc.2991T>C (p.His997=)
c.966T>C (p.His322=)
n.3365T>C
c.186T>C (p.His62=)
c.3009T>C (p.His1003=)
c.2055T>C (n.2055T>C)
c.260T>C
c.969T>C (p.His323=)
c.511T>C
c.3012T>C (p.His1004=)
c.2994T>C (p.His998=)
c.2832T>C (p.His944=)
c.2940T>C (p.His980=)
c.2922T>C (p.His974=)
c.2646T>C (p.His882=)
n.3221T>C
c.2814T>C (p.His938=)
c.2628T>C (p.His876=)
n.3224T>C
c.2919T>C (p.His973=)
c.2985T>C (p.His995=)
c.2937T>C (p.His979=)
c.2802T>C (p.His934=)
c.2896-95T>C (n.2896-95T>C)
 gnomAD v4
16g.28836028T>GCA395409105ATXN2Lc.2991T>G (p.His997Gln)
c.966T>G (p.His322Gln)
n.3365T>G
c.186T>G (p.His62Gln)
c.3009T>G (p.His1003Gln)
c.2055T>G (n.2055T>G)
c.260T>G
c.969T>G (p.His323Gln)
c.511T>G
c.3012T>G (p.His1004Gln)
c.2994T>G (p.His998Gln)
c.2832T>G (p.His944Gln)
c.2940T>G (p.His980Gln)
c.2922T>G (p.His974Gln)
c.2646T>G (p.His882Gln)
n.3221T>G
c.2814T>G (p.His938Gln)
c.2628T>G (p.His876Gln)
n.3224T>G
c.2919T>G (p.His973Gln)
c.2985T>G (p.His995Gln)
c.2937T>G (p.His979Gln)
c.2802T>G (p.His934Gln)
c.2896-95T>G (n.2896-95T>G)
16g.28836028_28836031delinsTGGGCA2215806823ATXN2Lc.2991_2994delinsTGGG (p.His997=)
c.966_969delinsTGGG (p.His322=)
n.3365_3368delinsTGGG
c.186_189delinsTGGG (p.His62=)
c.3009_3012delinsTGGG (p.His1003=)
c.2055_2058delinsTGGG (n.2055_2058delinsTGGG)
c.260_263delinsTGGG
c.969_972delinsTGGG (p.His323=)
c.511_514delinsTGGG
c.3012_3015delinsTGGG (p.His1004=)
c.2994_2997delinsTGGG (p.His998=)
c.2832_2835delinsTGGG (p.His944=)
c.2940_2943delinsTGGG (p.His980=)
c.2922_2925delinsTGGG (p.His974=)
c.2646_2649delinsTGGG (p.His882=)
n.3221_3224delinsTGGG
c.2814_2817delinsTGGG (p.His938=)
c.2628_2631delinsTGGG (p.His876=)
n.3224_3227delinsTGGG
c.2919_2922delinsTGGG (p.His973=)
c.2985_2988delinsTGGG (p.His995=)
c.2937_2940delinsTGGG (p.His979=)
c.2802_2805delinsTGGG (p.His934=)
c.2896-95_2896-92delinsTGGG (n.2896-95_2896-92delinsTGGG)
16g.28836029G>ACA395409107ATXN2Lc.2992G>A (p.Gly998Arg)
c.967G>A (p.Gly323Arg)
n.3366G>A
c.187G>A (p.Gly63Arg)
c.3010G>A (p.Gly1004Arg)
c.2056G>A (n.2056G>A)
c.261G>A
c.970G>A (p.Gly324Arg)
c.512G>A
c.3013G>A (p.Gly1005Arg)
c.2995G>A (p.Gly999Arg)
c.2833G>A (p.Gly945Arg)
c.2941G>A (p.Gly981Arg)
c.2923G>A (p.Gly975Arg)
c.2647G>A (p.Gly883Arg)
n.3222G>A
c.2815G>A (p.Gly939Arg)
c.2629G>A (p.Gly877Arg)
n.3225G>A
c.2920G>A (p.Gly974Arg)
c.2986G>A (p.Gly996Arg)
c.2938G>A (p.Gly980Arg)
c.2803G>A (p.Gly935Arg)
c.2896-94G>A (n.2896-94G>A)
 gnomAD v4
16g.28836029G>CCA395409109ATXN2Lc.2992G>C (p.Gly998Arg)
c.967G>C (p.Gly323Arg)
n.3366G>C
c.187G>C (p.Gly63Arg)
c.3010G>C (p.Gly1004Arg)
c.2056G>C (n.2056G>C)
c.261G>C
c.970G>C (p.Gly324Arg)
c.512G>C
c.3013G>C (p.Gly1005Arg)
c.2995G>C (p.Gly999Arg)
c.2833G>C (p.Gly945Arg)
c.2941G>C (p.Gly981Arg)
c.2923G>C (p.Gly975Arg)
c.2647G>C (p.Gly883Arg)
n.3222G>C
c.2815G>C (p.Gly939Arg)
c.2629G>C (p.Gly877Arg)
n.3225G>C
c.2920G>C (p.Gly974Arg)
c.2986G>C (p.Gly996Arg)
c.2938G>C (p.Gly980Arg)
c.2803G>C (p.Gly935Arg)
c.2896-94G>C (n.2896-94G>C)
16g.28836029G>TCA395409111ATXN2Lc.2992G>T (p.Gly998Trp)
c.967G>T (p.Gly323Trp)
n.3366G>T
c.187G>T (p.Gly63Trp)
c.3010G>T (p.Gly1004Trp)
c.2056G>T (n.2056G>T)
c.261G>T
c.970G>T (p.Gly324Trp)
c.512G>T
c.3013G>T (p.Gly1005Trp)
c.2995G>T (p.Gly999Trp)
c.2833G>T (p.Gly945Trp)
c.2941G>T (p.Gly981Trp)
c.2923G>T (p.Gly975Trp)
c.2647G>T (p.Gly883Trp)
n.3222G>T
c.2815G>T (p.Gly939Trp)
c.2629G>T (p.Gly877Trp)
n.3225G>T
c.2920G>T (p.Gly974Trp)
c.2986G>T (p.Gly996Trp)
c.2938G>T (p.Gly980Trp)
c.2803G>T (p.Gly935Trp)
c.2896-94G>T (n.2896-94G>T)
16g.28836034dupCA2632529237ATXN2Lc.2997dup (p.Pro1000AlafsTer?)
c.972dup (p.Pro325AlafsTer?)
n.3371dup
c.192dup (p.Pro65AlafsTer?)
c.3015dup (p.Pro1006AlafsTer?)
c.2061dup (n.2061dup)
c.266dup
c.975dup (p.Pro326AlafsTer?)
c.517dup
c.3018dup (p.Pro1007AlafsTer?)
c.3000dup (p.Pro1001AlafsTer?)
c.2838dup (p.Pro947AlafsTer?)
c.2946dup (p.Pro983AlafsTer?)
c.2928dup (p.Pro977AlafsTer?)
c.2652dup (p.Pro885AlafsTer?)
n.3227dup
c.2820dup (p.Pro941AlafsTer?)
c.2634dup (p.Pro879AlafsTer?)
n.3230dup
c.2925dup (p.Pro976AlafsTer?)
c.2991dup (p.Pro998AlafsTer?)
c.2943dup (p.Pro982AlafsTer?)
c.2808dup (p.Pro937AlafsTer?)
c.2896-89dup (n.2896-89dup)
 gnomAD v4
16g.28836034delCA395409113ATXN2Lc.2997del (p.Gln1002LysfsTer?)
c.972del (p.Gln327LysfsTer?)
n.3371del
c.192del (p.Gln67LysfsTer?)
c.3015del (p.Gln1008LysfsTer?)
c.2061del (n.2061del)
c.266del
c.975del (p.Gln328LysfsTer?)
c.517del
c.3018del (p.Gln1009LysfsTer?)
c.3000del (p.Gln1003LysfsTer?)
c.2838del (p.Gln949LysfsTer?)
c.2946del (p.Gln985LysfsTer?)
c.2928del (p.Gln979LysfsTer?)
c.2652del (p.Gln887LysfsTer?)
n.3227del
c.2820del (p.Gln943LysfsTer?)
c.2634del (p.Gln881LysfsTer?)
n.3230del
c.2925del (p.Gln978LysfsTer?)
c.2991del (p.Gln1000LysfsTer?)
c.2943del (p.Gln984LysfsTer?)
c.2808del (p.Gln939LysfsTer?)
c.2896-89del (n.2896-89del)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836032_28836034delCA2215806827ATXN2Lc.2995_2997del (p.Gly999del)
c.970_972del (p.Gly324del)
n.3369_3371del
c.190_192del (p.Gly64del)
c.3013_3015del (p.Gly1005del)
c.2059_2061del (n.2059_2061del)
c.264_266del
c.973_975del (p.Gly325del)
c.515_517del
c.3016_3018del (p.Gly1006del)
c.2998_3000del (p.Gly1000del)
c.2836_2838del (p.Gly946del)
c.2944_2946del (p.Gly982del)
c.2926_2928del (p.Gly976del)
c.2650_2652del (p.Gly884del)
n.3225_3227del
c.2818_2820del (p.Gly940del)
c.2632_2634del (p.Gly878del)
n.3228_3230del
c.2923_2925del (p.Gly975del)
c.2989_2991del (p.Gly997del)
c.2941_2943del (p.Gly981del)
c.2806_2808del (p.Gly936del)
c.2896-91_2896-89del (n.2896-91_2896-89del)
 dbSNP
16g.28836030G>ACA395409115ATXN2Lc.2993G>A (p.Gly998Glu)
c.968G>A (p.Gly323Glu)
n.3367G>A
c.188G>A (p.Gly63Glu)
c.3011G>A (p.Gly1004Glu)
c.2057G>A (n.2057G>A)
c.262G>A
c.971G>A (p.Gly324Glu)
c.513G>A
c.3014G>A (p.Gly1005Glu)
c.2996G>A (p.Gly999Glu)
c.2834G>A (p.Gly945Glu)
c.2942G>A (p.Gly981Glu)
c.2924G>A (p.Gly975Glu)
c.2648G>A (p.Gly883Glu)
n.3223G>A
c.2816G>A (p.Gly939Glu)
c.2630G>A (p.Gly877Glu)
n.3226G>A
c.2921G>A (p.Gly974Glu)
c.2987G>A (p.Gly996Glu)
c.2939G>A (p.Gly980Glu)
c.2804G>A (p.Gly935Glu)
c.2896-93G>A (n.2896-93G>A)
 gnomAD v4
16g.28836030G>CCA395409117ATXN2Lc.2993G>C (p.Gly998Ala)
c.968G>C (p.Gly323Ala)
n.3367G>C
c.188G>C (p.Gly63Ala)
c.3011G>C (p.Gly1004Ala)
c.2057G>C (n.2057G>C)
c.262G>C
c.971G>C (p.Gly324Ala)
c.513G>C
c.3014G>C (p.Gly1005Ala)
c.2996G>C (p.Gly999Ala)
c.2834G>C (p.Gly945Ala)
c.2942G>C (p.Gly981Ala)
c.2924G>C (p.Gly975Ala)
c.2648G>C (p.Gly883Ala)
n.3223G>C
c.2816G>C (p.Gly939Ala)
c.2630G>C (p.Gly877Ala)
n.3226G>C
c.2921G>C (p.Gly974Ala)
c.2987G>C (p.Gly996Ala)
c.2939G>C (p.Gly980Ala)
c.2804G>C (p.Gly935Ala)
c.2896-93G>C (n.2896-93G>C)
 gnomAD v4
16g.28836030G>TCA395409119ATXN2Lc.2993G>T (p.Gly998Val)
c.968G>T (p.Gly323Val)
n.3367G>T
c.188G>T (p.Gly63Val)
c.3011G>T (p.Gly1004Val)
c.2057G>T (n.2057G>T)
c.262G>T
c.971G>T (p.Gly324Val)
c.513G>T
c.3014G>T (p.Gly1005Val)
c.2996G>T (p.Gly999Val)
c.2834G>T (p.Gly945Val)
c.2942G>T (p.Gly981Val)
c.2924G>T (p.Gly975Val)
c.2648G>T (p.Gly883Val)
n.3223G>T
c.2816G>T (p.Gly939Val)
c.2630G>T (p.Gly877Val)
n.3226G>T
c.2921G>T (p.Gly974Val)
c.2987G>T (p.Gly996Val)
c.2939G>T (p.Gly980Val)
c.2804G>T (p.Gly935Val)
c.2896-93G>T (n.2896-93G>T)
16g.28836031G>ACA494869047ATXN2Lc.2994G>A (p.Gly998=)
c.969G>A (p.Gly323=)
n.3368G>A
c.189G>A (p.Gly63=)
c.3012G>A (p.Gly1004=)
c.2058G>A (n.2058G>A)
c.263G>A
c.972G>A (p.Gly324=)
c.514G>A
c.3015G>A (p.Gly1005=)
c.2997G>A (p.Gly999=)
c.2835G>A (p.Gly945=)
c.2943G>A (p.Gly981=)
c.2925G>A (p.Gly975=)
c.2649G>A (p.Gly883=)
n.3224G>A
c.2817G>A (p.Gly939=)
c.2631G>A (p.Gly877=)
n.3227G>A
c.2922G>A (p.Gly974=)
c.2988G>A (p.Gly996=)
c.2940G>A (p.Gly980=)
c.2805G>A (p.Gly935=)
c.2896-92G>A (n.2896-92G>A)
 gnomAD v4
16g.28836031G>CCA494869049ATXN2Lc.2994G>C (p.Gly998=)
c.969G>C (p.Gly323=)
n.3368G>C
c.189G>C (p.Gly63=)
c.3012G>C (p.Gly1004=)
c.2058G>C (n.2058G>C)
c.263G>C
c.972G>C (p.Gly324=)
c.514G>C
c.3015G>C (p.Gly1005=)
c.2997G>C (p.Gly999=)
c.2835G>C (p.Gly945=)
c.2943G>C (p.Gly981=)
c.2925G>C (p.Gly975=)
c.2649G>C (p.Gly883=)
n.3224G>C
c.2817G>C (p.Gly939=)
c.2631G>C (p.Gly877=)
n.3227G>C
c.2922G>C (p.Gly974=)
c.2988G>C (p.Gly996=)
c.2940G>C (p.Gly980=)
c.2805G>C (p.Gly935=)
c.2896-92G>C (n.2896-92G>C)
16g.28836031G>TCA494869053ATXN2Lc.2994G>T (p.Gly998=)
c.969G>T (p.Gly323=)
n.3368G>T
c.189G>T (p.Gly63=)
c.3012G>T (p.Gly1004=)
c.2058G>T (n.2058G>T)
c.263G>T
c.972G>T (p.Gly324=)
c.514G>T
c.3015G>T (p.Gly1005=)
c.2997G>T (p.Gly999=)
c.2835G>T (p.Gly945=)
c.2943G>T (p.Gly981=)
c.2925G>T (p.Gly975=)
c.2649G>T (p.Gly883=)
n.3224G>T
c.2817G>T (p.Gly939=)
c.2631G>T (p.Gly877=)
n.3227G>T
c.2922G>T (p.Gly974=)
c.2988G>T (p.Gly996=)
c.2940G>T (p.Gly980=)
c.2805G>T (p.Gly935=)
c.2896-92G>T (n.2896-92G>T)
16g.28836032G>ACA395409121ATXN2Lc.2995G>A (p.Gly999Arg)
c.970G>A (p.Gly324Arg)
n.3369G>A
c.190G>A (p.Gly64Arg)
c.3013G>A (p.Gly1005Arg)
c.2059G>A (n.2059G>A)
c.264G>A
c.973G>A (p.Gly325Arg)
c.515G>A
c.3016G>A (p.Gly1006Arg)
c.2998G>A (p.Gly1000Arg)
c.2836G>A (p.Gly946Arg)
c.2944G>A (p.Gly982Arg)
c.2926G>A (p.Gly976Arg)
c.2650G>A (p.Gly884Arg)
n.3225G>A
c.2818G>A (p.Gly940Arg)
c.2632G>A (p.Gly878Arg)
n.3228G>A
c.2923G>A (p.Gly975Arg)
c.2989G>A (p.Gly997Arg)
c.2941G>A (p.Gly981Arg)
c.2806G>A (p.Gly936Arg)
c.2896-91G>A (n.2896-91G>A)
16g.28836032G>CCA395409125ATXN2Lc.2995G>C (p.Gly999Arg)
c.970G>C (p.Gly324Arg)
n.3369G>C
c.190G>C (p.Gly64Arg)
c.3013G>C (p.Gly1005Arg)
c.2059G>C (n.2059G>C)
c.264G>C
c.973G>C (p.Gly325Arg)
c.515G>C
c.3016G>C (p.Gly1006Arg)
c.2998G>C (p.Gly1000Arg)
c.2836G>C (p.Gly946Arg)
c.2944G>C (p.Gly982Arg)
c.2926G>C (p.Gly976Arg)
c.2650G>C (p.Gly884Arg)
n.3225G>C
c.2818G>C (p.Gly940Arg)
c.2632G>C (p.Gly878Arg)
n.3228G>C
c.2923G>C (p.Gly975Arg)
c.2989G>C (p.Gly997Arg)
c.2941G>C (p.Gly981Arg)
c.2806G>C (p.Gly936Arg)
c.2896-91G>C (n.2896-91G>C)
16g.28836032G>TCA395409123ATXN2Lc.2995G>T (p.Gly999Trp)
c.970G>T (p.Gly324Trp)
n.3369G>T
c.190G>T (p.Gly64Trp)
c.3013G>T (p.Gly1005Trp)
c.2059G>T (n.2059G>T)
c.264G>T
c.973G>T (p.Gly325Trp)
c.515G>T
c.3016G>T (p.Gly1006Trp)
c.2998G>T (p.Gly1000Trp)
c.2836G>T (p.Gly946Trp)
c.2944G>T (p.Gly982Trp)
c.2926G>T (p.Gly976Trp)
c.2650G>T (p.Gly884Trp)
n.3225G>T
c.2818G>T (p.Gly940Trp)
c.2632G>T (p.Gly878Trp)
n.3228G>T
c.2923G>T (p.Gly975Trp)
c.2989G>T (p.Gly997Trp)
c.2941G>T (p.Gly981Trp)
c.2806G>T (p.Gly936Trp)
c.2896-91G>T (n.2896-91G>T)
16g.28836033G>ACA395409127ATXN2Lc.2996G>A (p.Gly999Glu)
c.971G>A (p.Gly324Glu)
n.3370G>A
c.191G>A (p.Gly64Glu)
c.3014G>A (p.Gly1005Glu)
c.2060G>A (n.2060G>A)
c.265G>A
c.974G>A (p.Gly325Glu)
c.516G>A
c.3017G>A (p.Gly1006Glu)
c.2999G>A (p.Gly1000Glu)
c.2837G>A (p.Gly946Glu)
c.2945G>A (p.Gly982Glu)
c.2927G>A (p.Gly976Glu)
c.2651G>A (p.Gly884Glu)
n.3226G>A
c.2819G>A (p.Gly940Glu)
c.2633G>A (p.Gly878Glu)
n.3229G>A
c.2924G>A (p.Gly975Glu)
c.2990G>A (p.Gly997Glu)
c.2942G>A (p.Gly981Glu)
c.2807G>A (p.Gly936Glu)
c.2896-90G>A (n.2896-90G>A)
16g.28836033G>CCA395409129ATXN2Lc.2996G>C (p.Gly999Ala)
c.971G>C (p.Gly324Ala)
n.3370G>C
c.191G>C (p.Gly64Ala)
c.3014G>C (p.Gly1005Ala)
c.2060G>C (n.2060G>C)
c.265G>C
c.974G>C (p.Gly325Ala)
c.516G>C
c.3017G>C (p.Gly1006Ala)
c.2999G>C (p.Gly1000Ala)
c.2837G>C (p.Gly946Ala)
c.2945G>C (p.Gly982Ala)
c.2927G>C (p.Gly976Ala)
c.2651G>C (p.Gly884Ala)
n.3226G>C
c.2819G>C (p.Gly940Ala)
c.2633G>C (p.Gly878Ala)
n.3229G>C
c.2924G>C (p.Gly975Ala)
c.2990G>C (p.Gly997Ala)
c.2942G>C (p.Gly981Ala)
c.2807G>C (p.Gly936Ala)
c.2896-90G>C (n.2896-90G>C)
16g.28836033G>TCA395409131ATXN2Lc.2996G>T (p.Gly999Val)
c.971G>T (p.Gly324Val)
n.3370G>T
c.191G>T (p.Gly64Val)
c.3014G>T (p.Gly1005Val)
c.2060G>T (n.2060G>T)
c.265G>T
c.974G>T (p.Gly325Val)
c.516G>T
c.3017G>T (p.Gly1006Val)
c.2999G>T (p.Gly1000Val)
c.2837G>T (p.Gly946Val)
c.2945G>T (p.Gly982Val)
c.2927G>T (p.Gly976Val)
c.2651G>T (p.Gly884Val)
n.3226G>T
c.2819G>T (p.Gly940Val)
c.2633G>T (p.Gly878Val)
n.3229G>T
c.2924G>T (p.Gly975Val)
c.2990G>T (p.Gly997Val)
c.2942G>T (p.Gly981Val)
c.2807G>T (p.Gly936Val)
c.2896-90G>T (n.2896-90G>T)
 gnomAD v4
16g.28836034G>ACA7985153ATXN2Lc.2997G>A (p.Gly999=)
c.972G>A (p.Gly324=)
n.3371G>A
c.192G>A (p.Gly64=)
c.3015G>A (p.Gly1005=)
c.2061G>A (n.2061G>A)
c.266G>A
c.975G>A (p.Gly325=)
c.517G>A
c.3018G>A (p.Gly1006=)
c.3000G>A (p.Gly1000=)
c.2838G>A (p.Gly946=)
c.2946G>A (p.Gly982=)
c.2928G>A (p.Gly976=)
c.2652G>A (p.Gly884=)
n.3227G>A
c.2820G>A (p.Gly940=)
c.2634G>A (p.Gly878=)
n.3230G>A
c.2925G>A (p.Gly975=)
c.2991G>A (p.Gly997=)
c.2943G>A (p.Gly981=)
c.2808G>A (p.Gly936=)
c.2896-89G>A (n.2896-89G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836034G>CCA7985152ATXN2Lc.2997G>C (p.Gly999=)
c.972G>C (p.Gly324=)
n.3371G>C
c.192G>C (p.Gly64=)
c.3015G>C (p.Gly1005=)
c.2061G>C (n.2061G>C)
c.266G>C
c.975G>C (p.Gly325=)
c.517G>C
c.3018G>C (p.Gly1006=)
c.3000G>C (p.Gly1000=)
c.2838G>C (p.Gly946=)
c.2946G>C (p.Gly982=)
c.2928G>C (p.Gly976=)
c.2652G>C (p.Gly884=)
n.3227G>C
c.2820G>C (p.Gly940=)
c.2634G>C (p.Gly878=)
n.3230G>C
c.2925G>C (p.Gly975=)
c.2991G>C (p.Gly997=)
c.2943G>C (p.Gly981=)
c.2808G>C (p.Gly936=)
c.2896-89G>C (n.2896-89G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836034G=CA2215806833ATXN2Lc.2997G= (p.Gly999=)
c.972G= (p.Gly324=)
n.3371G=
c.192G= (p.Gly64=)
c.3015G= (p.Gly1005=)
c.2061G= (n.2061G=)
c.266G=
c.975G= (p.Gly325=)
c.517G=
c.3018G= (p.Gly1006=)
c.3000G= (p.Gly1000=)
c.2838G= (p.Gly946=)
c.2946G= (p.Gly982=)
c.2928G= (p.Gly976=)
c.2652G= (p.Gly884=)
n.3227G=
c.2820G= (p.Gly940=)
c.2634G= (p.Gly878=)
n.3230G=
c.2925G= (p.Gly975=)
c.2991G= (p.Gly997=)
c.2943G= (p.Gly981=)
c.2808G= (p.Gly936=)
c.2896-89G= (n.2896-89G=)
16g.28836034G>TCA279230902ATXN2Lc.2997G>T (p.Gly999=)
c.972G>T (p.Gly324=)
n.3371G>T
c.192G>T (p.Gly64=)
c.3015G>T (p.Gly1005=)
c.2061G>T (n.2061G>T)
c.266G>T
c.975G>T (p.Gly325=)
c.517G>T
c.3018G>T (p.Gly1006=)
c.3000G>T (p.Gly1000=)
c.2838G>T (p.Gly946=)
c.2946G>T (p.Gly982=)
c.2928G>T (p.Gly976=)
c.2652G>T (p.Gly884=)
n.3227G>T
c.2820G>T (p.Gly940=)
c.2634G>T (p.Gly878=)
n.3230G>T
c.2925G>T (p.Gly975=)
c.2991G>T (p.Gly997=)
c.2943G>T (p.Gly981=)
c.2808G>T (p.Gly936=)
c.2896-89G>T (n.2896-89G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836034_28836035delinsGCCA2215806832ATXN2Lc.2997_2998delinsGC (p.Gly999=)
c.972_973delinsGC (p.Gly324=)
n.3371_3372delinsGC
c.192_193delinsGC (p.Gly64=)
c.3015_3016delinsGC (p.Gly1005=)
c.2061_2062delinsGC (n.2061_2062delinsGC)
c.266_267delinsGC
c.975_976delinsGC (p.Gly325=)
c.517_518delinsGC
c.3018_3019delinsGC (p.Gly1006=)
c.3000_3001delinsGC (p.Gly1000=)
c.2838_2839delinsGC (p.Gly946=)
c.2946_2947delinsGC (p.Gly982=)
c.2928_2929delinsGC (p.Gly976=)
c.2652_2653delinsGC (p.Gly884=)
n.3227_3228delinsGC
c.2820_2821delinsGC (p.Gly940=)
c.2634_2635delinsGC (p.Gly878=)
n.3230_3231delinsGC
c.2925_2926delinsGC (p.Gly975=)
c.2991_2992delinsGC (p.Gly997=)
c.2943_2944delinsGC (p.Gly981=)
c.2808_2809delinsGC (p.Gly936=)
c.2896-89_2896-88delinsGC (n.2896-89_2896-88delinsGC)
16g.28836039_28836056dupCA2632529252ATXN2Lc.3002_3019dup (p.Pro1006_Gln1007insProGlnGlyAlaValPro)
c.977_994dup (p.Pro331_Gln332insProGlnGlyAlaValPro)
n.3376_3393dup
c.197_214dup (p.Pro71_Gln72insProGlnGlyAlaValPro)
c.3020_3037dup (p.Pro1012_Gln1013insProGlnGlyAlaValPro)
c.2066_2083dup (n.2066_2083dup)
c.271_288dup
c.980_997dup (p.Pro332_Gln333insProGlnGlyAlaValPro)
c.522_539dup
c.3023_3040dup (p.Pro1013_Gln1014insProGlnGlyAlaValPro)
c.3005_3022dup (p.Pro1007_Gln1008insProGlnGlyAlaValPro)
c.2843_2860dup (p.Pro953_Gln954insProGlnGlyAlaValPro)
c.2951_2968dup (p.Pro989_Gln990insProGlnGlyAlaValPro)
c.2933_2950dup (p.Pro983_Gln984insProGlnGlyAlaValPro)
c.2657_2674dup (p.Pro891_Gln892insProGlnGlyAlaValPro)
n.3232_3249dup
c.2825_2842dup (p.Pro947_Gln948insProGlnGlyAlaValPro)
c.2639_2656dup (p.Pro885_Gln886insProGlnGlyAlaValPro)
n.3235_3252dup
c.2930_2947dup (p.Pro982_Gln983insProGlnGlyAlaValPro)
c.2996_3013dup (p.Pro1004_Gln1005insProGlnGlyAlaValPro)
c.2948_2965dup (p.Pro988_Gln989insProGlnGlyAlaValPro)
c.2813_2830dup (p.Pro943_Gln944insProGlnGlyAlaValPro)
c.2896-84_2896-67dup (n.2896-84_2896-67dup)
 gnomAD v4
16g.28836035C>ACA395409137ATXN2Lc.2998C>A (p.Pro1000Thr)
c.973C>A (p.Pro325Thr)
n.3372C>A
c.193C>A (p.Pro65Thr)
c.3016C>A (p.Pro1006Thr)
c.2062C>A (n.2062C>A)
c.267C>A
c.976C>A (p.Pro326Thr)
c.518C>A
c.3019C>A (p.Pro1007Thr)
c.3001C>A (p.Pro1001Thr)
c.2839C>A (p.Pro947Thr)
c.2947C>A (p.Pro983Thr)
c.2929C>A (p.Pro977Thr)
c.2653C>A (p.Pro885Thr)
n.3228C>A
c.2821C>A (p.Pro941Thr)
c.2635C>A (p.Pro879Thr)
n.3231C>A
c.2926C>A (p.Pro976Thr)
c.2992C>A (p.Pro998Thr)
c.2944C>A (p.Pro982Thr)
c.2809C>A (p.Pro937Thr)
c.2896-88C>A (n.2896-88C>A)
 gnomAD v4
16g.28836035C=CA2215806841ATXN2Lc.2998C= (p.Pro1000=)
c.973C= (p.Pro325=)
n.3372C=
c.193C= (p.Pro65=)
c.3016C= (p.Pro1006=)
c.2062C= (n.2062C=)
c.267C=
c.976C= (p.Pro326=)
c.518C=
c.3019C= (p.Pro1007=)
c.3001C= (p.Pro1001=)
c.2839C= (p.Pro947=)
c.2947C= (p.Pro983=)
c.2929C= (p.Pro977=)
c.2653C= (p.Pro885=)
n.3228C=
c.2821C= (p.Pro941=)
c.2635C= (p.Pro879=)
n.3231C=
c.2926C= (p.Pro976=)
c.2992C= (p.Pro998=)
c.2944C= (p.Pro982=)
c.2809C= (p.Pro937=)
c.2896-88C= (n.2896-88C=)
16g.28836035C>GCA395409139ATXN2Lc.2998C>G (p.Pro1000Ala)
c.973C>G (p.Pro325Ala)
n.3372C>G
c.193C>G (p.Pro65Ala)
c.3016C>G (p.Pro1006Ala)
c.2062C>G (n.2062C>G)
c.267C>G
c.976C>G (p.Pro326Ala)
c.518C>G
c.3019C>G (p.Pro1007Ala)
c.3001C>G (p.Pro1001Ala)
c.2839C>G (p.Pro947Ala)
c.2947C>G (p.Pro983Ala)
c.2929C>G (p.Pro977Ala)
c.2653C>G (p.Pro885Ala)
n.3228C>G
c.2821C>G (p.Pro941Ala)
c.2635C>G (p.Pro879Ala)
n.3231C>G
c.2926C>G (p.Pro976Ala)
c.2992C>G (p.Pro998Ala)
c.2944C>G (p.Pro982Ala)
c.2809C>G (p.Pro937Ala)
c.2896-88C>G (n.2896-88C>G)
 dbSNP gnomAD v4
16g.28836035C>TCA395409140ATXN2Lc.2998C>T (p.Pro1000Ser)
c.973C>T (p.Pro325Ser)
n.3372C>T
c.193C>T (p.Pro65Ser)
c.3016C>T (p.Pro1006Ser)
c.2062C>T (n.2062C>T)
c.267C>T
c.976C>T (p.Pro326Ser)
c.518C>T
c.3019C>T (p.Pro1007Ser)
c.3001C>T (p.Pro1001Ser)
c.2839C>T (p.Pro947Ser)
c.2947C>T (p.Pro983Ser)
c.2929C>T (p.Pro977Ser)
c.2653C>T (p.Pro885Ser)
n.3228C>T
c.2821C>T (p.Pro941Ser)
c.2635C>T (p.Pro879Ser)
n.3231C>T
c.2926C>T (p.Pro976Ser)
c.2992C>T (p.Pro998Ser)
c.2944C>T (p.Pro982Ser)
c.2809C>T (p.Pro937Ser)
c.2896-88C>T (n.2896-88C>T)
 gnomAD v4
16g.28836041dupCA7985151ATXN2Lc.3004dup (p.Gln1002ProfsTer29)
c.3004dup (p.Gln1002ProfsTer?)
c.979dup (p.Gln327ProfsTer29)
n.3378dup
c.199dup (p.Gln67ProfsTer?)
c.3022dup (p.Gln1008ProfsTer29)
c.2068dup (n.2068dup)
c.273dup
c.982dup (p.Gln328ProfsTer29)
c.524dup
c.3025dup (p.Gln1009ProfsTer29)
c.3007dup (p.Gln1003ProfsTer29)
c.3025dup (p.Gln1009ProfsTer30)
c.3025dup (p.Gln1009ProfsTer?)
c.3022dup (p.Gln1008ProfsTer?)
c.2845dup (p.Gln949ProfsTer29)
c.2953dup (p.Gln985ProfsTer29)
c.2935dup (p.Gln979ProfsTer29)
c.2659dup (p.Gln887ProfsTer29)
n.3234dup
c.2827dup (p.Gln943ProfsTer29)
c.2641dup (p.Gln881ProfsTer29)
n.3237dup
c.3022dup (p.Gln1008ProfsTer30)
c.3007dup (p.Gln1003ProfsTer30)
c.3004dup (p.Gln1002ProfsTer30)
c.2932dup (p.Gln978ProfsTer29)
c.2998dup (p.Gln1000ProfsTer29)
c.2932dup (p.Gln978ProfsTer30)
c.3007dup (p.Gln1003ProfsTer?)
c.2950dup (p.Gln984ProfsTer29)
c.2935dup (p.Gln979ProfsTer?)
c.2950dup (p.Gln984ProfsTer?)
c.2932dup (p.Gln978ProfsTer?)
c.2815dup (p.Gln939ProfsTer29)
c.2896-82dup (n.2896-82dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836040_28836041dupCA2806421858ATXN2Lc.3003_3004dup (p.Gln1002ProfsTer?)
c.978_979dup (p.Gln327ProfsTer?)
n.3377_3378dup
c.198_199dup (p.Gln67ProfsTer?)
c.3021_3022dup (p.Gln1008ProfsTer?)
c.2067_2068dup (n.2067_2068dup)
c.272_273dup
c.981_982dup (p.Gln328ProfsTer?)
c.523_524dup
c.3024_3025dup (p.Gln1009ProfsTer?)
c.3006_3007dup (p.Gln1003ProfsTer?)
c.2844_2845dup (p.Gln949ProfsTer?)
c.2952_2953dup (p.Gln985ProfsTer?)
c.2934_2935dup (p.Gln979ProfsTer?)
c.2658_2659dup (p.Gln887ProfsTer?)
n.3233_3234dup
c.2826_2827dup (p.Gln943ProfsTer?)
c.2640_2641dup (p.Gln881ProfsTer?)
n.3236_3237dup
c.2931_2932dup (p.Gln978ProfsTer?)
c.2997_2998dup (p.Gln1000ProfsTer?)
c.2949_2950dup (p.Gln984ProfsTer?)
c.2814_2815dup (p.Gln939ProfsTer?)
c.2896-83_2896-82dup (n.2896-83_2896-82dup)
16g.28836041delCA494869091ATXN2Lc.3004del (p.Gln1002LysfsTer?)
c.979del (p.Gln327LysfsTer?)
n.3378del
c.199del (p.Gln67LysfsTer?)
c.3022del (p.Gln1008LysfsTer?)
c.2068del (n.2068del)
c.273del
c.982del (p.Gln328LysfsTer?)
c.524del
c.3025del (p.Gln1009LysfsTer?)
c.3007del (p.Gln1003LysfsTer?)
c.2845del (p.Gln949LysfsTer?)
c.2953del (p.Gln985LysfsTer?)
c.2935del (p.Gln979LysfsTer?)
c.2659del (p.Gln887LysfsTer?)
n.3234del
c.2827del (p.Gln943LysfsTer?)
c.2641del (p.Gln881LysfsTer?)
n.3237del
c.2932del (p.Gln978LysfsTer?)
c.2998del (p.Gln1000LysfsTer?)
c.2950del (p.Gln984LysfsTer?)
c.2815del (p.Gln939LysfsTer?)
c.2896-82del (n.2896-82del)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836036C>ACA395409145ATXN2Lc.2999C>A (p.Pro1000His)
c.974C>A (p.Pro325His)
n.3373C>A
c.194C>A (p.Pro65His)
c.3017C>A (p.Pro1006His)
c.2063C>A (n.2063C>A)
c.268C>A
c.977C>A (p.Pro326His)
c.519C>A
c.3020C>A (p.Pro1007His)
c.3002C>A (p.Pro1001His)
c.2840C>A (p.Pro947His)
c.2948C>A (p.Pro983His)
c.2930C>A (p.Pro977His)
c.2654C>A (p.Pro885His)
n.3229C>A
c.2822C>A (p.Pro941His)
c.2636C>A (p.Pro879His)
n.3232C>A
c.2927C>A (p.Pro976His)
c.2993C>A (p.Pro998His)
c.2945C>A (p.Pro982His)
c.2810C>A (p.Pro937His)
c.2896-87C>A (n.2896-87C>A)
 dbSNP gnomAD v4
16g.28836036C=CA2215806844ATXN2Lc.2999C= (p.Pro1000=)
c.974C= (p.Pro325=)
n.3373C=
c.194C= (p.Pro65=)
c.3017C= (p.Pro1006=)
c.2063C= (n.2063C=)
c.268C=
c.977C= (p.Pro326=)
c.519C=
c.3020C= (p.Pro1007=)
c.3002C= (p.Pro1001=)
c.2840C= (p.Pro947=)
c.2948C= (p.Pro983=)
c.2930C= (p.Pro977=)
c.2654C= (p.Pro885=)
n.3229C=
c.2822C= (p.Pro941=)
c.2636C= (p.Pro879=)
n.3232C=
c.2927C= (p.Pro976=)
c.2993C= (p.Pro998=)
c.2945C= (p.Pro982=)
c.2810C= (p.Pro937=)
c.2896-87C= (n.2896-87C=)
16g.28836036C>GCA395409146ATXN2Lc.2999C>G (p.Pro1000Arg)
c.974C>G (p.Pro325Arg)
n.3373C>G
c.194C>G (p.Pro65Arg)
c.3017C>G (p.Pro1006Arg)
c.2063C>G (n.2063C>G)
c.268C>G
c.977C>G (p.Pro326Arg)
c.519C>G
c.3020C>G (p.Pro1007Arg)
c.3002C>G (p.Pro1001Arg)
c.2840C>G (p.Pro947Arg)
c.2948C>G (p.Pro983Arg)
c.2930C>G (p.Pro977Arg)
c.2654C>G (p.Pro885Arg)
n.3229C>G
c.2822C>G (p.Pro941Arg)
c.2636C>G (p.Pro879Arg)
n.3232C>G
c.2927C>G (p.Pro976Arg)
c.2993C>G (p.Pro998Arg)
c.2945C>G (p.Pro982Arg)
c.2810C>G (p.Pro937Arg)
c.2896-87C>G (n.2896-87C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28836036C>TCA395409143ATXN2Lc.2999C>T (p.Pro1000Leu)
c.974C>T (p.Pro325Leu)
n.3373C>T
c.194C>T (p.Pro65Leu)
c.3017C>T (p.Pro1006Leu)
c.2063C>T (n.2063C>T)
c.268C>T
c.977C>T (p.Pro326Leu)
c.519C>T
c.3020C>T (p.Pro1007Leu)
c.3002C>T (p.Pro1001Leu)
c.2840C>T (p.Pro947Leu)
c.2948C>T (p.Pro983Leu)
c.2930C>T (p.Pro977Leu)
c.2654C>T (p.Pro885Leu)
n.3229C>T
c.2822C>T (p.Pro941Leu)
c.2636C>T (p.Pro879Leu)
n.3232C>T
c.2927C>T (p.Pro976Leu)
c.2993C>T (p.Pro998Leu)
c.2945C>T (p.Pro982Leu)
c.2810C>T (p.Pro937Leu)
c.2896-87C>T (n.2896-87C>T)
 gnomAD v4
16g.28836037C>ACA494869102ATXN2Lc.3000C>A (p.Pro1000=)
c.975C>A (p.Pro325=)
n.3374C>A
c.195C>A (p.Pro65=)
c.3018C>A (p.Pro1006=)
c.2064C>A (n.2064C>A)
c.269C>A
c.978C>A (p.Pro326=)
c.520C>A
c.3021C>A (p.Pro1007=)
c.3003C>A (p.Pro1001=)
c.2841C>A (p.Pro947=)
c.2949C>A (p.Pro983=)
c.2931C>A (p.Pro977=)
c.2655C>A (p.Pro885=)
n.3230C>A
c.2823C>A (p.Pro941=)
c.2637C>A (p.Pro879=)
n.3233C>A
c.2928C>A (p.Pro976=)
c.2994C>A (p.Pro998=)
c.2946C>A (p.Pro982=)
c.2811C>A (p.Pro937=)
c.2896-86C>A (n.2896-86C>A)
16g.28836037C=CA2215806847ATXN2Lc.3000C= (p.Pro1000=)
c.975C= (p.Pro325=)
n.3374C=
c.195C= (p.Pro65=)
c.3018C= (p.Pro1006=)
c.2064C= (n.2064C=)
c.269C=
c.978C= (p.Pro326=)
c.520C=
c.3021C= (p.Pro1007=)
c.3003C= (p.Pro1001=)
c.2841C= (p.Pro947=)
c.2949C= (p.Pro983=)
c.2931C= (p.Pro977=)
c.2655C= (p.Pro885=)
n.3230C=
c.2823C= (p.Pro941=)
c.2637C= (p.Pro879=)
n.3233C=
c.2928C= (p.Pro976=)
c.2994C= (p.Pro998=)
c.2946C= (p.Pro982=)
c.2811C= (p.Pro937=)
c.2896-86C= (n.2896-86C=)
16g.28836037C>GCA494869105ATXN2Lc.3000C>G (p.Pro1000=)
c.975C>G (p.Pro325=)
n.3374C>G
c.195C>G (p.Pro65=)
c.3018C>G (p.Pro1006=)
c.2064C>G (n.2064C>G)
c.269C>G
c.978C>G (p.Pro326=)
c.520C>G
c.3021C>G (p.Pro1007=)
c.3003C>G (p.Pro1001=)
c.2841C>G (p.Pro947=)
c.2949C>G (p.Pro983=)
c.2931C>G (p.Pro977=)
c.2655C>G (p.Pro885=)
n.3230C>G
c.2823C>G (p.Pro941=)
c.2637C>G (p.Pro879=)
n.3233C>G
c.2928C>G (p.Pro976=)
c.2994C>G (p.Pro998=)
c.2946C>G (p.Pro982=)
c.2811C>G (p.Pro937=)
c.2896-86C>G (n.2896-86C>G)
16g.28836037C>TCA494869109ATXN2Lc.3000C>T (p.Pro1000=)
c.975C>T (p.Pro325=)
n.3374C>T
c.195C>T (p.Pro65=)
c.3018C>T (p.Pro1006=)
c.2064C>T (n.2064C>T)
c.269C>T
c.978C>T (p.Pro326=)
c.520C>T
c.3021C>T (p.Pro1007=)
c.3003C>T (p.Pro1001=)
c.2841C>T (p.Pro947=)
c.2949C>T (p.Pro983=)
c.2931C>T (p.Pro977=)
c.2655C>T (p.Pro885=)
n.3230C>T
c.2823C>T (p.Pro941=)
c.2637C>T (p.Pro879=)
n.3233C>T
c.2928C>T (p.Pro976=)
c.2994C>T (p.Pro998=)
c.2946C>T (p.Pro982=)
c.2811C>T (p.Pro937=)
c.2896-86C>T (n.2896-86C>T)
 dbSNP gnomAD v4
16g.28836038C>ACA7985154ATXN2Lc.3001C>A (p.Pro1001Thr)
c.976C>A (p.Pro326Thr)
n.3375C>A
c.196C>A (p.Pro66Thr)
c.3019C>A (p.Pro1007Thr)
c.2065C>A (n.2065C>A)
c.270C>A
c.979C>A (p.Pro327Thr)
c.521C>A
c.3022C>A (p.Pro1008Thr)
c.3004C>A (p.Pro1002Thr)
c.2842C>A (p.Pro948Thr)
c.2950C>A (p.Pro984Thr)
c.2932C>A (p.Pro978Thr)
c.2656C>A (p.Pro886Thr)
n.3231C>A
c.2824C>A (p.Pro942Thr)
c.2638C>A (p.Pro880Thr)
n.3234C>A
c.2929C>A (p.Pro977Thr)
c.2995C>A (p.Pro999Thr)
c.2947C>A (p.Pro983Thr)
c.2812C>A (p.Pro938Thr)
c.2896-85C>A (n.2896-85C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836038C=CA2215806850ATXN2Lc.3001C= (p.Pro1001=)
c.976C= (p.Pro326=)
n.3375C=
c.196C= (p.Pro66=)
c.3019C= (p.Pro1007=)
c.2065C= (n.2065C=)
c.270C=
c.979C= (p.Pro327=)
c.521C=
c.3022C= (p.Pro1008=)
c.3004C= (p.Pro1002=)
c.2842C= (p.Pro948=)
c.2950C= (p.Pro984=)
c.2932C= (p.Pro978=)
c.2656C= (p.Pro886=)
n.3231C=
c.2824C= (p.Pro942=)
c.2638C= (p.Pro880=)
n.3234C=
c.2929C= (p.Pro977=)
c.2995C= (p.Pro999=)
c.2947C= (p.Pro983=)
c.2812C= (p.Pro938=)
c.2896-85C= (n.2896-85C=)
16g.28836038C>GCA395409149ATXN2Lc.3001C>G (p.Pro1001Ala)
c.976C>G (p.Pro326Ala)
n.3375C>G
c.196C>G (p.Pro66Ala)
c.3019C>G (p.Pro1007Ala)
c.2065C>G (n.2065C>G)
c.270C>G
c.979C>G (p.Pro327Ala)
c.521C>G
c.3022C>G (p.Pro1008Ala)
c.3004C>G (p.Pro1002Ala)
c.2842C>G (p.Pro948Ala)
c.2950C>G (p.Pro984Ala)
c.2932C>G (p.Pro978Ala)
c.2656C>G (p.Pro886Ala)
n.3231C>G
c.2824C>G (p.Pro942Ala)
c.2638C>G (p.Pro880Ala)
n.3234C>G
c.2929C>G (p.Pro977Ala)
c.2995C>G (p.Pro999Ala)
c.2947C>G (p.Pro983Ala)
c.2812C>G (p.Pro938Ala)
c.2896-85C>G (n.2896-85C>G)
16g.28836038C>TCA395409151ATXN2Lc.3001C>T (p.Pro1001Ser)
c.976C>T (p.Pro326Ser)
n.3375C>T
c.196C>T (p.Pro66Ser)
c.3019C>T (p.Pro1007Ser)
c.2065C>T (n.2065C>T)
c.270C>T
c.979C>T (p.Pro327Ser)
c.521C>T
c.3022C>T (p.Pro1008Ser)
c.3004C>T (p.Pro1002Ser)
c.2842C>T (p.Pro948Ser)
c.2950C>T (p.Pro984Ser)
c.2932C>T (p.Pro978Ser)
c.2656C>T (p.Pro886Ser)
n.3231C>T
c.2824C>T (p.Pro942Ser)
c.2638C>T (p.Pro880Ser)
n.3234C>T
c.2929C>T (p.Pro977Ser)
c.2995C>T (p.Pro999Ser)
c.2947C>T (p.Pro983Ser)
c.2812C>T (p.Pro938Ser)
c.2896-85C>T (n.2896-85C>T)
16g.28836039C>ACA395409153ATXN2Lc.3002C>A (p.Pro1001His)
c.977C>A (p.Pro326His)
n.3376C>A
c.197C>A (p.Pro66His)
c.3020C>A (p.Pro1007His)
c.2066C>A (n.2066C>A)
c.271C>A
c.980C>A (p.Pro327His)
c.522C>A
c.3023C>A (p.Pro1008His)
c.3005C>A (p.Pro1002His)
c.2843C>A (p.Pro948His)
c.2951C>A (p.Pro984His)
c.2933C>A (p.Pro978His)
c.2657C>A (p.Pro886His)
n.3232C>A
c.2825C>A (p.Pro942His)
c.2639C>A (p.Pro880His)
n.3235C>A
c.2930C>A (p.Pro977His)
c.2996C>A (p.Pro999His)
c.2948C>A (p.Pro983His)
c.2813C>A (p.Pro938His)
c.2896-84C>A (n.2896-84C>A)
 gnomAD v4
16g.28836039C>GCA395409157ATXN2Lc.3002C>G (p.Pro1001Arg)
c.977C>G (p.Pro326Arg)
n.3376C>G
c.197C>G (p.Pro66Arg)
c.3020C>G (p.Pro1007Arg)
c.2066C>G (n.2066C>G)
c.271C>G
c.980C>G (p.Pro327Arg)
c.522C>G
c.3023C>G (p.Pro1008Arg)
c.3005C>G (p.Pro1002Arg)
c.2843C>G (p.Pro948Arg)
c.2951C>G (p.Pro984Arg)
c.2933C>G (p.Pro978Arg)
c.2657C>G (p.Pro886Arg)
n.3232C>G
c.2825C>G (p.Pro942Arg)
c.2639C>G (p.Pro880Arg)
n.3235C>G
c.2930C>G (p.Pro977Arg)
c.2996C>G (p.Pro999Arg)
c.2948C>G (p.Pro983Arg)
c.2813C>G (p.Pro938Arg)
c.2896-84C>G (n.2896-84C>G)
 COSMIC COSMIC COSMIC COSMIC
16g.28836039C>TCA395409159ATXN2Lc.3002C>T (p.Pro1001Leu)
c.977C>T (p.Pro326Leu)
n.3376C>T
c.197C>T (p.Pro66Leu)
c.3020C>T (p.Pro1007Leu)
c.2066C>T (n.2066C>T)
c.271C>T
c.980C>T (p.Pro327Leu)
c.522C>T
c.3023C>T (p.Pro1008Leu)
c.3005C>T (p.Pro1002Leu)
c.2843C>T (p.Pro948Leu)
c.2951C>T (p.Pro984Leu)
c.2933C>T (p.Pro978Leu)
c.2657C>T (p.Pro886Leu)
n.3232C>T
c.2825C>T (p.Pro942Leu)
c.2639C>T (p.Pro880Leu)
n.3235C>T
c.2930C>T (p.Pro977Leu)
c.2996C>T (p.Pro999Leu)
c.2948C>T (p.Pro983Leu)
c.2813C>T (p.Pro938Leu)
c.2896-84C>T (n.2896-84C>T)
 gnomAD v4
16g.28836040C>ACA494869135ATXN2Lc.3003C>A (p.Pro1001=)
c.978C>A (p.Pro326=)
n.3377C>A
c.198C>A (p.Pro66=)
c.3021C>A (p.Pro1007=)
c.2067C>A (n.2067C>A)
c.272C>A
c.981C>A (p.Pro327=)
c.523C>A
c.3024C>A (p.Pro1008=)
c.3006C>A (p.Pro1002=)
c.2844C>A (p.Pro948=)
c.2952C>A (p.Pro984=)
c.2934C>A (p.Pro978=)
c.2658C>A (p.Pro886=)
n.3233C>A
c.2826C>A (p.Pro942=)
c.2640C>A (p.Pro880=)
n.3236C>A
c.2931C>A (p.Pro977=)
c.2997C>A (p.Pro999=)
c.2949C>A (p.Pro983=)
c.2814C>A (p.Pro938=)
c.2896-83C>A (n.2896-83C>A)
 dbSNP
16g.28836040C=CA2215806853ATXN2Lc.3003C= (p.Pro1001=)
c.978C= (p.Pro326=)
n.3377C=
c.198C= (p.Pro66=)
c.3021C= (p.Pro1007=)
c.2067C= (n.2067C=)
c.272C=
c.981C= (p.Pro327=)
c.523C=
c.3024C= (p.Pro1008=)
c.3006C= (p.Pro1002=)
c.2844C= (p.Pro948=)
c.2952C= (p.Pro984=)
c.2934C= (p.Pro978=)
c.2658C= (p.Pro886=)
n.3233C=
c.2826C= (p.Pro942=)
c.2640C= (p.Pro880=)
n.3236C=
c.2931C= (p.Pro977=)
c.2997C= (p.Pro999=)
c.2949C= (p.Pro983=)
c.2814C= (p.Pro938=)
c.2896-83C= (n.2896-83C=)
16g.28836040C>GCA494869136ATXN2Lc.3003C>G (p.Pro1001=)
c.978C>G (p.Pro326=)
n.3377C>G
c.198C>G (p.Pro66=)
c.3021C>G (p.Pro1007=)
c.2067C>G (n.2067C>G)
c.272C>G
c.981C>G (p.Pro327=)
c.523C>G
c.3024C>G (p.Pro1008=)
c.3006C>G (p.Pro1002=)
c.2844C>G (p.Pro948=)
c.2952C>G (p.Pro984=)
c.2934C>G (p.Pro978=)
c.2658C>G (p.Pro886=)
n.3233C>G
c.2826C>G (p.Pro942=)
c.2640C>G (p.Pro880=)
n.3236C>G
c.2931C>G (p.Pro977=)
c.2997C>G (p.Pro999=)
c.2949C>G (p.Pro983=)
c.2814C>G (p.Pro938=)
c.2896-83C>G (n.2896-83C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28836040C>TCA494869137ATXN2Lc.3003C>T (p.Pro1001=)
c.978C>T (p.Pro326=)
n.3377C>T
c.198C>T (p.Pro66=)
c.3021C>T (p.Pro1007=)
c.2067C>T (n.2067C>T)
c.272C>T
c.981C>T (p.Pro327=)
c.523C>T
c.3024C>T (p.Pro1008=)
c.3006C>T (p.Pro1002=)
c.2844C>T (p.Pro948=)
c.2952C>T (p.Pro984=)
c.2934C>T (p.Pro978=)
c.2658C>T (p.Pro886=)
n.3233C>T
c.2826C>T (p.Pro942=)
c.2640C>T (p.Pro880=)
n.3236C>T
c.2931C>T (p.Pro977=)
c.2997C>T (p.Pro999=)
c.2949C>T (p.Pro983=)
c.2814C>T (p.Pro938=)
c.2896-83C>T (n.2896-83C>T)
16g.28836041C>ACA395409165ATXN2Lc.3004C>A (p.Gln1002Lys)
c.979C>A (p.Gln327Lys)
n.3378C>A
c.199C>A (p.Gln67Lys)
c.3022C>A (p.Gln1008Lys)
c.2068C>A (n.2068C>A)
c.273C>A
c.982C>A (p.Gln328Lys)
c.524C>A
c.3025C>A (p.Gln1009Lys)
c.3007C>A (p.Gln1003Lys)
c.2845C>A (p.Gln949Lys)
c.2953C>A (p.Gln985Lys)
c.2935C>A (p.Gln979Lys)
c.2659C>A (p.Gln887Lys)
n.3234C>A
c.2827C>A (p.Gln943Lys)
c.2641C>A (p.Gln881Lys)
n.3237C>A
c.2932C>A (p.Gln978Lys)
c.2998C>A (p.Gln1000Lys)
c.2950C>A (p.Gln984Lys)
c.2815C>A (p.Gln939Lys)
c.2896-82C>A (n.2896-82C>A)
 gnomAD v4
16g.28836041C>GCA395409162ATXN2Lc.3004C>G (p.Gln1002Glu)
c.979C>G (p.Gln327Glu)
n.3378C>G
c.199C>G (p.Gln67Glu)
c.3022C>G (p.Gln1008Glu)
c.2068C>G (n.2068C>G)
c.273C>G
c.982C>G (p.Gln328Glu)
c.524C>G
c.3025C>G (p.Gln1009Glu)
c.3007C>G (p.Gln1003Glu)
c.2845C>G (p.Gln949Glu)
c.2953C>G (p.Gln985Glu)
c.2935C>G (p.Gln979Glu)
c.2659C>G (p.Gln887Glu)
n.3234C>G
c.2827C>G (p.Gln943Glu)
c.2641C>G (p.Gln881Glu)
n.3237C>G
c.2932C>G (p.Gln978Glu)
c.2998C>G (p.Gln1000Glu)
c.2950C>G (p.Gln984Glu)
c.2815C>G (p.Gln939Glu)
c.2896-82C>G (n.2896-82C>G)
16g.28836041C>TCA395409164ATXN2Lc.3004C>T (p.Gln1002Ter)
c.979C>T (p.Gln327Ter)
n.3378C>T
c.199C>T (p.Gln67Ter)
c.3022C>T (p.Gln1008Ter)
c.2068C>T (n.2068C>T)
c.273C>T
c.982C>T (p.Gln328Ter)
c.524C>T
c.3025C>T (p.Gln1009Ter)
c.3007C>T (p.Gln1003Ter)
c.2845C>T (p.Gln949Ter)
c.2953C>T (p.Gln985Ter)
c.2935C>T (p.Gln979Ter)
c.2659C>T (p.Gln887Ter)
n.3234C>T
c.2827C>T (p.Gln943Ter)
c.2641C>T (p.Gln881Ter)
n.3237C>T
c.2932C>T (p.Gln978Ter)
c.2998C>T (p.Gln1000Ter)
c.2950C>T (p.Gln984Ter)
c.2815C>T (p.Gln939Ter)
c.2896-82C>T (n.2896-82C>T)
16g.28836042A=CA2215806857ATXN2Lc.3005A= (p.Gln1002=)
c.980A= (p.Gln327=)
n.3379A=
c.200A= (p.Gln67=)
c.3023A= (p.Gln1008=)
c.2069A= (n.2069A=)
c.274A=
c.983A= (p.Gln328=)
c.525A=
c.3026A= (p.Gln1009=)
c.3008A= (p.Gln1003=)
c.2846A= (p.Gln949=)
c.2954A= (p.Gln985=)
c.2936A= (p.Gln979=)
c.2660A= (p.Gln887=)
n.3235A=
c.2828A= (p.Gln943=)
c.2642A= (p.Gln881=)
n.3238A=
c.2933A= (p.Gln978=)
c.2999A= (p.Gln1000=)
c.2951A= (p.Gln984=)
c.2816A= (p.Gln939=)
c.2896-81A= (n.2896-81A=)
16g.28836042A>CCA395409167ATXN2Lc.3005A>C (p.Gln1002Pro)
c.980A>C (p.Gln327Pro)
n.3379A>C
c.200A>C (p.Gln67Pro)
c.3023A>C (p.Gln1008Pro)
c.2069A>C (n.2069A>C)
c.274A>C
c.983A>C (p.Gln328Pro)
c.525A>C
c.3026A>C (p.Gln1009Pro)
c.3008A>C (p.Gln1003Pro)
c.2846A>C (p.Gln949Pro)
c.2954A>C (p.Gln985Pro)
c.2936A>C (p.Gln979Pro)
c.2660A>C (p.Gln887Pro)
n.3235A>C
c.2828A>C (p.Gln943Pro)
c.2642A>C (p.Gln881Pro)
n.3238A>C
c.2933A>C (p.Gln978Pro)
c.2999A>C (p.Gln1000Pro)
c.2951A>C (p.Gln984Pro)
c.2816A>C (p.Gln939Pro)
c.2896-81A>C (n.2896-81A>C)
 dbSNP gnomAD v4
16g.28836042A>GCA395409168ATXN2Lc.3005A>G (p.Gln1002Arg)
c.980A>G (p.Gln327Arg)
n.3379A>G
c.200A>G (p.Gln67Arg)
c.3023A>G (p.Gln1008Arg)
c.2069A>G (n.2069A>G)
c.274A>G
c.983A>G (p.Gln328Arg)
c.525A>G
c.3026A>G (p.Gln1009Arg)
c.3008A>G (p.Gln1003Arg)
c.2846A>G (p.Gln949Arg)
c.2954A>G (p.Gln985Arg)
c.2936A>G (p.Gln979Arg)
c.2660A>G (p.Gln887Arg)
n.3235A>G
c.2828A>G (p.Gln943Arg)
c.2642A>G (p.Gln881Arg)
n.3238A>G
c.2933A>G (p.Gln978Arg)
c.2999A>G (p.Gln1000Arg)
c.2951A>G (p.Gln984Arg)
c.2816A>G (p.Gln939Arg)
c.2896-81A>G (n.2896-81A>G)
16g.28836042A>TCA395409169ATXN2Lc.3005A>T (p.Gln1002Leu)
c.980A>T (p.Gln327Leu)
n.3379A>T
c.200A>T (p.Gln67Leu)
c.3023A>T (p.Gln1008Leu)
c.2069A>T (n.2069A>T)
c.274A>T
c.983A>T (p.Gln328Leu)
c.525A>T
c.3026A>T (p.Gln1009Leu)
c.3008A>T (p.Gln1003Leu)
c.2846A>T (p.Gln949Leu)
c.2954A>T (p.Gln985Leu)
c.2936A>T (p.Gln979Leu)
c.2660A>T (p.Gln887Leu)
n.3235A>T
c.2828A>T (p.Gln943Leu)
c.2642A>T (p.Gln881Leu)
n.3238A>T
c.2933A>T (p.Gln978Leu)
c.2999A>T (p.Gln1000Leu)
c.2951A>T (p.Gln984Leu)
c.2816A>T (p.Gln939Leu)
c.2896-81A>T (n.2896-81A>T)
 dbSNP
16g.28836043A>CCA395409171ATXN2Lc.3006A>C (p.Gln1002His)
c.981A>C (p.Gln327His)
n.3380A>C
c.201A>C (p.Gln67His)
c.3024A>C (p.Gln1008His)
c.2070A>C (n.2070A>C)
c.275A>C
c.984A>C (p.Gln328His)
c.526A>C
c.3027A>C (p.Gln1009His)
c.3009A>C (p.Gln1003His)
c.2847A>C (p.Gln949His)
c.2955A>C (p.Gln985His)
c.2937A>C (p.Gln979His)
c.2661A>C (p.Gln887His)
n.3236A>C
c.2829A>C (p.Gln943His)
c.2643A>C (p.Gln881His)
n.3239A>C
c.2934A>C (p.Gln978His)
c.3000A>C (p.Gln1000His)
c.2952A>C (p.Gln984His)
c.2817A>C (p.Gln939His)
c.2896-80A>C (n.2896-80A>C)
16g.28836043A>GCA494869152ATXN2Lc.3006A>G (p.Gln1002=)
c.981A>G (p.Gln327=)
n.3380A>G
c.201A>G (p.Gln67=)
c.3024A>G (p.Gln1008=)
c.2070A>G (n.2070A>G)
c.275A>G
c.984A>G (p.Gln328=)
c.526A>G
c.3027A>G (p.Gln1009=)
c.3009A>G (p.Gln1003=)
c.2847A>G (p.Gln949=)
c.2955A>G (p.Gln985=)
c.2937A>G (p.Gln979=)
c.2661A>G (p.Gln887=)
n.3236A>G
c.2829A>G (p.Gln943=)
c.2643A>G (p.Gln881=)
n.3239A>G
c.2934A>G (p.Gln978=)
c.3000A>G (p.Gln1000=)
c.2952A>G (p.Gln984=)
c.2817A>G (p.Gln939=)
c.2896-80A>G (n.2896-80A>G)
16g.28836043A>TCA395409173ATXN2Lc.3006A>T (p.Gln1002His)
c.981A>T (p.Gln327His)
n.3380A>T
c.201A>T (p.Gln67His)
c.3024A>T (p.Gln1008His)
c.2070A>T (n.2070A>T)
c.275A>T
c.984A>T (p.Gln328His)
c.526A>T
c.3027A>T (p.Gln1009His)
c.3009A>T (p.Gln1003His)
c.2847A>T (p.Gln949His)
c.2955A>T (p.Gln985His)
c.2937A>T (p.Gln979His)
c.2661A>T (p.Gln887His)
n.3236A>T
c.2829A>T (p.Gln943His)
c.2643A>T (p.Gln881His)
n.3239A>T
c.2934A>T (p.Gln978His)
c.3000A>T (p.Gln1000His)
c.2952A>T (p.Gln984His)
c.2817A>T (p.Gln939His)
c.2896-80A>T (n.2896-80A>T)
16g.28836044G>ACA395409175ATXN2Lc.3007G>A (p.Gly1003Ser)
c.982G>A (p.Gly328Ser)
n.3381G>A
c.202G>A (p.Gly68Ser)
c.3025G>A (p.Gly1009Ser)
c.2071G>A (n.2071G>A)
c.276G>A
c.985G>A (p.Gly329Ser)
c.527G>A
c.3028G>A (p.Gly1010Ser)
c.3010G>A (p.Gly1004Ser)
c.2848G>A (p.Gly950Ser)
c.2956G>A (p.Gly986Ser)
c.2938G>A (p.Gly980Ser)
c.2662G>A (p.Gly888Ser)
n.3237G>A
c.2830G>A (p.Gly944Ser)
c.2644G>A (p.Gly882Ser)
n.3240G>A
c.2935G>A (p.Gly979Ser)
c.3001G>A (p.Gly1001Ser)
c.2953G>A (p.Gly985Ser)
c.2818G>A (p.Gly940Ser)
c.2896-79G>A (n.2896-79G>A)
16g.28836044G>CCA395409179ATXN2Lc.3007G>C (p.Gly1003Arg)
c.982G>C (p.Gly328Arg)
n.3381G>C
c.202G>C (p.Gly68Arg)
c.3025G>C (p.Gly1009Arg)
c.2071G>C (n.2071G>C)
c.276G>C
c.985G>C (p.Gly329Arg)
c.527G>C
c.3028G>C (p.Gly1010Arg)
c.3010G>C (p.Gly1004Arg)
c.2848G>C (p.Gly950Arg)
c.2956G>C (p.Gly986Arg)
c.2938G>C (p.Gly980Arg)
c.2662G>C (p.Gly888Arg)
n.3237G>C
c.2830G>C (p.Gly944Arg)
c.2644G>C (p.Gly882Arg)
n.3240G>C
c.2935G>C (p.Gly979Arg)
c.3001G>C (p.Gly1001Arg)
c.2953G>C (p.Gly985Arg)
c.2818G>C (p.Gly940Arg)
c.2896-79G>C (n.2896-79G>C)
16g.28836044G=CA2215806860ATXN2Lc.3007G= (p.Gly1003=)
c.982G= (p.Gly328=)
n.3381G=
c.202G= (p.Gly68=)
c.3025G= (p.Gly1009=)
c.2071G= (n.2071G=)
c.276G=
c.985G= (p.Gly329=)
c.527G=
c.3028G= (p.Gly1010=)
c.3010G= (p.Gly1004=)
c.2848G= (p.Gly950=)
c.2956G= (p.Gly986=)
c.2938G= (p.Gly980=)
c.2662G= (p.Gly888=)
n.3237G=
c.2830G= (p.Gly944=)
c.2644G= (p.Gly882=)
n.3240G=
c.2935G= (p.Gly979=)
c.3001G= (p.Gly1001=)
c.2953G= (p.Gly985=)
c.2818G= (p.Gly940=)
c.2896-79G= (n.2896-79G=)
16g.28836044G>TCA7985155ATXN2Lc.3007G>T (p.Gly1003Cys)
c.982G>T (p.Gly328Cys)
n.3381G>T
c.202G>T (p.Gly68Cys)
c.3025G>T (p.Gly1009Cys)
c.2071G>T (n.2071G>T)
c.276G>T
c.985G>T (p.Gly329Cys)
c.527G>T
c.3028G>T (p.Gly1010Cys)
c.3010G>T (p.Gly1004Cys)
c.2848G>T (p.Gly950Cys)
c.2956G>T (p.Gly986Cys)
c.2938G>T (p.Gly980Cys)
c.2662G>T (p.Gly888Cys)
n.3237G>T
c.2830G>T (p.Gly944Cys)
c.2644G>T (p.Gly882Cys)
n.3240G>T
c.2935G>T (p.Gly979Cys)
c.3001G>T (p.Gly1001Cys)
c.2953G>T (p.Gly985Cys)
c.2818G>T (p.Gly940Cys)
c.2896-79G>T (n.2896-79G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836045G>ACA395409180ATXN2Lc.3008G>A (p.Gly1003Asp)
c.983G>A (p.Gly328Asp)
n.3382G>A
c.203G>A (p.Gly68Asp)
c.3026G>A (p.Gly1009Asp)
c.2072G>A (n.2072G>A)
c.277G>A
c.986G>A (p.Gly329Asp)
c.528G>A
c.3029G>A (p.Gly1010Asp)
c.3011G>A (p.Gly1004Asp)
c.2849G>A (p.Gly950Asp)
c.2957G>A (p.Gly986Asp)
c.2939G>A (p.Gly980Asp)
c.2663G>A (p.Gly888Asp)
n.3238G>A
c.2831G>A (p.Gly944Asp)
c.2645G>A (p.Gly882Asp)
n.3241G>A
c.2936G>A (p.Gly979Asp)
c.3002G>A (p.Gly1001Asp)
c.2954G>A (p.Gly985Asp)
c.2819G>A (p.Gly940Asp)
c.2896-78G>A (n.2896-78G>A)
16g.28836045G>CCA395409182ATXN2Lc.3008G>C (p.Gly1003Ala)
c.983G>C (p.Gly328Ala)
n.3382G>C
c.203G>C (p.Gly68Ala)
c.3026G>C (p.Gly1009Ala)
c.2072G>C (n.2072G>C)
c.277G>C
c.986G>C (p.Gly329Ala)
c.528G>C
c.3029G>C (p.Gly1010Ala)
c.3011G>C (p.Gly1004Ala)
c.2849G>C (p.Gly950Ala)
c.2957G>C (p.Gly986Ala)
c.2939G>C (p.Gly980Ala)
c.2663G>C (p.Gly888Ala)
n.3238G>C
c.2831G>C (p.Gly944Ala)
c.2645G>C (p.Gly882Ala)
n.3241G>C
c.2936G>C (p.Gly979Ala)
c.3002G>C (p.Gly1001Ala)
c.2954G>C (p.Gly985Ala)
c.2819G>C (p.Gly940Ala)
c.2896-78G>C (n.2896-78G>C)
16g.28836045G>TCA395409184ATXN2Lc.3008G>T (p.Gly1003Val)
c.983G>T (p.Gly328Val)
n.3382G>T
c.203G>T (p.Gly68Val)
c.3026G>T (p.Gly1009Val)
c.2072G>T (n.2072G>T)
c.277G>T
c.986G>T (p.Gly329Val)
c.528G>T
c.3029G>T (p.Gly1010Val)
c.3011G>T (p.Gly1004Val)
c.2849G>T (p.Gly950Val)
c.2957G>T (p.Gly986Val)
c.2939G>T (p.Gly980Val)
c.2663G>T (p.Gly888Val)
n.3238G>T
c.2831G>T (p.Gly944Val)
c.2645G>T (p.Gly882Val)
n.3241G>T
c.2936G>T (p.Gly979Val)
c.3002G>T (p.Gly1001Val)
c.2954G>T (p.Gly985Val)
c.2819G>T (p.Gly940Val)
c.2896-78G>T (n.2896-78G>T)
16g.28836046C>ACA494869167ATXN2Lc.3009C>A (p.Gly1003=)
c.984C>A (p.Gly328=)
n.3383C>A
c.204C>A (p.Gly68=)
c.3027C>A (p.Gly1009=)
c.2073C>A (n.2073C>A)
c.278C>A
c.987C>A (p.Gly329=)
c.529C>A
c.3030C>A (p.Gly1010=)
c.3012C>A (p.Gly1004=)
c.2850C>A (p.Gly950=)
c.2958C>A (p.Gly986=)
c.2940C>A (p.Gly980=)
c.2664C>A (p.Gly888=)
n.3239C>A
c.2832C>A (p.Gly944=)
c.2646C>A (p.Gly882=)
n.3242C>A
c.2937C>A (p.Gly979=)
c.3003C>A (p.Gly1001=)
c.2955C>A (p.Gly985=)
c.2820C>A (p.Gly940=)
c.2896-77C>A (n.2896-77C>A)
 gnomAD v4
16g.28836046C=CA2215806863ATXN2Lc.3009C= (p.Gly1003=)
c.984C= (p.Gly328=)
n.3383C=
c.204C= (p.Gly68=)
c.3027C= (p.Gly1009=)
c.2073C= (n.2073C=)
c.278C=
c.987C= (p.Gly329=)
c.529C=
c.3030C= (p.Gly1010=)
c.3012C= (p.Gly1004=)
c.2850C= (p.Gly950=)
c.2958C= (p.Gly986=)
c.2940C= (p.Gly980=)
c.2664C= (p.Gly888=)
n.3239C=
c.2832C= (p.Gly944=)
c.2646C= (p.Gly882=)
n.3242C=
c.2937C= (p.Gly979=)
c.3003C= (p.Gly1001=)
c.2955C= (p.Gly985=)
c.2820C= (p.Gly940=)
c.2896-77C= (n.2896-77C=)
16g.28836046C>GCA494869169ATXN2Lc.3009C>G (p.Gly1003=)
c.984C>G (p.Gly328=)
n.3383C>G
c.204C>G (p.Gly68=)
c.3027C>G (p.Gly1009=)
c.2073C>G (n.2073C>G)
c.278C>G
c.987C>G (p.Gly329=)
c.529C>G
c.3030C>G (p.Gly1010=)
c.3012C>G (p.Gly1004=)
c.2850C>G (p.Gly950=)
c.2958C>G (p.Gly986=)
c.2940C>G (p.Gly980=)
c.2664C>G (p.Gly888=)
n.3239C>G
c.2832C>G (p.Gly944=)
c.2646C>G (p.Gly882=)
n.3242C>G
c.2937C>G (p.Gly979=)
c.3003C>G (p.Gly1001=)
c.2955C>G (p.Gly985=)
c.2820C>G (p.Gly940=)
c.2896-77C>G (n.2896-77C>G)
 gnomAD v4
16g.28836046C>TCA7985156ATXN2Lc.3009C>T (p.Gly1003=)
c.984C>T (p.Gly328=)
n.3383C>T
c.204C>T (p.Gly68=)
c.3027C>T (p.Gly1009=)
c.2073C>T (n.2073C>T)
c.278C>T
c.987C>T (p.Gly329=)
c.529C>T
c.3030C>T (p.Gly1010=)
c.3012C>T (p.Gly1004=)
c.2850C>T (p.Gly950=)
c.2958C>T (p.Gly986=)
c.2940C>T (p.Gly980=)
c.2664C>T (p.Gly888=)
n.3239C>T
c.2832C>T (p.Gly944=)
c.2646C>T (p.Gly882=)
n.3242C>T
c.2937C>T (p.Gly979=)
c.3003C>T (p.Gly1001=)
c.2955C>T (p.Gly985=)
c.2820C>T (p.Gly940=)
c.2896-77C>T (n.2896-77C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836047G>ACA7985157ATXN2Lc.3010G>A (p.Ala1004Thr)
c.985G>A (p.Ala329Thr)
n.3384G>A
c.205G>A (p.Ala69Thr)
c.3028G>A (p.Ala1010Thr)
c.2074G>A (n.2074G>A)
c.279G>A
c.988G>A (p.Ala330Thr)
c.530G>A
c.3031G>A (p.Ala1011Thr)
c.3013G>A (p.Ala1005Thr)
c.2851G>A (p.Ala951Thr)
c.2959G>A (p.Ala987Thr)
c.2941G>A (p.Ala981Thr)
c.2665G>A (p.Ala889Thr)
n.3240G>A
c.2833G>A (p.Ala945Thr)
c.2647G>A (p.Ala883Thr)
n.3243G>A
c.2938G>A (p.Ala980Thr)
c.3004G>A (p.Ala1002Thr)
c.2956G>A (p.Ala986Thr)
c.2821G>A (p.Ala941Thr)
c.2896-76G>A (n.2896-76G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836047G>CCA395409188ATXN2Lc.3010G>C (p.Ala1004Pro)
c.985G>C (p.Ala329Pro)
n.3384G>C
c.205G>C (p.Ala69Pro)
c.3028G>C (p.Ala1010Pro)
c.2074G>C (n.2074G>C)
c.279G>C
c.988G>C (p.Ala330Pro)
c.530G>C
c.3031G>C (p.Ala1011Pro)
c.3013G>C (p.Ala1005Pro)
c.2851G>C (p.Ala951Pro)
c.2959G>C (p.Ala987Pro)
c.2941G>C (p.Ala981Pro)
c.2665G>C (p.Ala889Pro)
n.3240G>C
c.2833G>C (p.Ala945Pro)
c.2647G>C (p.Ala883Pro)
n.3243G>C
c.2938G>C (p.Ala980Pro)
c.3004G>C (p.Ala1002Pro)
c.2956G>C (p.Ala986Pro)
c.2821G>C (p.Ala941Pro)
c.2896-76G>C (n.2896-76G>C)
 dbSNP
16g.28836047G=CA2215806866ATXN2Lc.3010G= (p.Ala1004=)
c.985G= (p.Ala329=)
n.3384G=
c.205G= (p.Ala69=)
c.3028G= (p.Ala1010=)
c.2074G= (n.2074G=)
c.279G=
c.988G= (p.Ala330=)
c.530G=
c.3031G= (p.Ala1011=)
c.3013G= (p.Ala1005=)
c.2851G= (p.Ala951=)
c.2959G= (p.Ala987=)
c.2941G= (p.Ala981=)
c.2665G= (p.Ala889=)
n.3240G=
c.2833G= (p.Ala945=)
c.2647G= (p.Ala883=)
n.3243G=
c.2938G= (p.Ala980=)
c.3004G= (p.Ala1002=)
c.2956G= (p.Ala986=)
c.2821G= (p.Ala941=)
c.2896-76G= (n.2896-76G=)
16g.28836047G>TCA395409189ATXN2Lc.3010G>T (p.Ala1004Ser)
c.985G>T (p.Ala329Ser)
n.3384G>T
c.205G>T (p.Ala69Ser)
c.3028G>T (p.Ala1010Ser)
c.2074G>T (n.2074G>T)
c.279G>T
c.988G>T (p.Ala330Ser)
c.530G>T
c.3031G>T (p.Ala1011Ser)
c.3013G>T (p.Ala1005Ser)
c.2851G>T (p.Ala951Ser)
c.2959G>T (p.Ala987Ser)
c.2941G>T (p.Ala981Ser)
c.2665G>T (p.Ala889Ser)
n.3240G>T
c.2833G>T (p.Ala945Ser)
c.2647G>T (p.Ala883Ser)
n.3243G>T
c.2938G>T (p.Ala980Ser)
c.3004G>T (p.Ala1002Ser)
c.2956G>T (p.Ala986Ser)
c.2821G>T (p.Ala941Ser)
c.2896-76G>T (n.2896-76G>T)
16g.28836048C>ACA395409191ATXN2Lc.3011C>A (p.Ala1004Glu)
c.986C>A (p.Ala329Glu)
n.3385C>A
c.206C>A (p.Ala69Glu)
c.3029C>A (p.Ala1010Glu)
c.2075C>A (n.2075C>A)
c.280C>A
c.989C>A (p.Ala330Glu)
c.531C>A
c.3032C>A (p.Ala1011Glu)
c.3014C>A (p.Ala1005Glu)
c.2852C>A (p.Ala951Glu)
c.2960C>A (p.Ala987Glu)
c.2942C>A (p.Ala981Glu)
c.2666C>A (p.Ala889Glu)
n.3241C>A
c.2834C>A (p.Ala945Glu)
c.2648C>A (p.Ala883Glu)
n.3244C>A
c.2939C>A (p.Ala980Glu)
c.3005C>A (p.Ala1002Glu)
c.2957C>A (p.Ala986Glu)
c.2822C>A (p.Ala941Glu)
c.2896-75C>A (n.2896-75C>A)
16g.28836048C=CA2215806869ATXN2Lc.3011C= (p.Ala1004=)
c.986C= (p.Ala329=)
n.3385C=
c.206C= (p.Ala69=)
c.3029C= (p.Ala1010=)
c.2075C= (n.2075C=)
c.280C=
c.989C= (p.Ala330=)
c.531C=
c.3032C= (p.Ala1011=)
c.3014C= (p.Ala1005=)
c.2852C= (p.Ala951=)
c.2960C= (p.Ala987=)
c.2942C= (p.Ala981=)
c.2666C= (p.Ala889=)
n.3241C=
c.2834C= (p.Ala945=)
c.2648C= (p.Ala883=)
n.3244C=
c.2939C= (p.Ala980=)
c.3005C= (p.Ala1002=)
c.2957C= (p.Ala986=)
c.2822C= (p.Ala941=)
c.2896-75C= (n.2896-75C=)
16g.28836048C>GCA395409193ATXN2Lc.3011C>G (p.Ala1004Gly)
c.986C>G (p.Ala329Gly)
n.3385C>G
c.206C>G (p.Ala69Gly)
c.3029C>G (p.Ala1010Gly)
c.2075C>G (n.2075C>G)
c.280C>G
c.989C>G (p.Ala330Gly)
c.531C>G
c.3032C>G (p.Ala1011Gly)
c.3014C>G (p.Ala1005Gly)
c.2852C>G (p.Ala951Gly)
c.2960C>G (p.Ala987Gly)
c.2942C>G (p.Ala981Gly)
c.2666C>G (p.Ala889Gly)
n.3241C>G
c.2834C>G (p.Ala945Gly)
c.2648C>G (p.Ala883Gly)
n.3244C>G
c.2939C>G (p.Ala980Gly)
c.3005C>G (p.Ala1002Gly)
c.2957C>G (p.Ala986Gly)
c.2822C>G (p.Ala941Gly)
c.2896-75C>G (n.2896-75C>G)
16g.28836048C>TCA7985158ATXN2Lc.3011C>T (p.Ala1004Val)
c.986C>T (p.Ala329Val)
n.3385C>T
c.206C>T (p.Ala69Val)
c.3029C>T (p.Ala1010Val)
c.2075C>T (n.2075C>T)
c.280C>T
c.989C>T (p.Ala330Val)
c.531C>T
c.3032C>T (p.Ala1011Val)
c.3014C>T (p.Ala1005Val)
c.2852C>T (p.Ala951Val)
c.2960C>T (p.Ala987Val)
c.2942C>T (p.Ala981Val)
c.2666C>T (p.Ala889Val)
n.3241C>T
c.2834C>T (p.Ala945Val)
c.2648C>T (p.Ala883Val)
n.3244C>T
c.2939C>T (p.Ala980Val)
c.3005C>T (p.Ala1002Val)
c.2957C>T (p.Ala986Val)
c.2822C>T (p.Ala941Val)
c.2896-75C>T (n.2896-75C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28836049G>ACA7985159ATXN2Lc.3012G>A (p.Ala1004=)
c.987G>A (p.Ala329=)
n.3386G>A
c.207G>A (p.Ala69=)
c.3030G>A (p.Ala1010=)
c.2076G>A (n.2076G>A)
c.281G>A
c.990G>A (p.Ala330=)
c.532G>A
c.3033G>A (p.Ala1011=)
c.3015G>A (p.Ala1005=)
c.2853G>A (p.Ala951=)
c.2961G>A (p.Ala987=)
c.2943G>A (p.Ala981=)
c.2667G>A (p.Ala889=)
n.3242G>A
c.2835G>A (p.Ala945=)
c.2649G>A (p.Ala883=)
n.3245G>A
c.2940G>A (p.Ala980=)
c.3006G>A (p.Ala1002=)
c.2958G>A (p.Ala986=)
c.2823G>A (p.Ala941=)
c.2896-74G>A (n.2896-74G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836049G>CCA494869190ATXN2Lc.3012G>C (p.Ala1004=)
c.987G>C (p.Ala329=)
n.3386G>C
c.207G>C (p.Ala69=)
c.3030G>C (p.Ala1010=)
c.2076G>C (n.2076G>C)
c.281G>C
c.990G>C (p.Ala330=)
c.532G>C
c.3033G>C (p.Ala1011=)
c.3015G>C (p.Ala1005=)
c.2853G>C (p.Ala951=)
c.2961G>C (p.Ala987=)
c.2943G>C (p.Ala981=)
c.2667G>C (p.Ala889=)
n.3242G>C
c.2835G>C (p.Ala945=)
c.2649G>C (p.Ala883=)
n.3245G>C
c.2940G>C (p.Ala980=)
c.3006G>C (p.Ala1002=)
c.2958G>C (p.Ala986=)
c.2823G>C (p.Ala941=)
c.2896-74G>C (n.2896-74G>C)
16g.28836049G=CA2215806872ATXN2Lc.3012G= (p.Ala1004=)
c.987G= (p.Ala329=)
n.3386G=
c.207G= (p.Ala69=)
c.3030G= (p.Ala1010=)
c.2076G= (n.2076G=)
c.281G=
c.990G= (p.Ala330=)
c.532G=
c.3033G= (p.Ala1011=)
c.3015G= (p.Ala1005=)
c.2853G= (p.Ala951=)
c.2961G= (p.Ala987=)
c.2943G= (p.Ala981=)
c.2667G= (p.Ala889=)
n.3242G=
c.2835G= (p.Ala945=)
c.2649G= (p.Ala883=)
n.3245G=
c.2940G= (p.Ala980=)
c.3006G= (p.Ala1002=)
c.2958G= (p.Ala986=)
c.2823G= (p.Ala941=)
c.2896-74G= (n.2896-74G=)
16g.28836049G>TCA494869193ATXN2Lc.3012G>T (p.Ala1004=)
c.987G>T (p.Ala329=)
n.3386G>T
c.207G>T (p.Ala69=)
c.3030G>T (p.Ala1010=)
c.2076G>T (n.2076G>T)
c.281G>T
c.990G>T (p.Ala330=)
c.532G>T
c.3033G>T (p.Ala1011=)
c.3015G>T (p.Ala1005=)
c.2853G>T (p.Ala951=)
c.2961G>T (p.Ala987=)
c.2943G>T (p.Ala981=)
c.2667G>T (p.Ala889=)
n.3242G>T
c.2835G>T (p.Ala945=)
c.2649G>T (p.Ala883=)
n.3245G>T
c.2940G>T (p.Ala980=)
c.3006G>T (p.Ala1002=)
c.2958G>T (p.Ala986=)
c.2823G>T (p.Ala941=)
c.2896-74G>T (n.2896-74G>T)
 dbSNP gnomAD v2
16g.28836050G>ACA395409201ATXN2Lc.3013G>A (p.Val1005Met)
c.988G>A (p.Val330Met)
n.3387G>A
c.208G>A (p.Val70Met)
c.3031G>A (p.Val1011Met)
c.2077G>A (n.2077G>A)
c.282G>A
c.991G>A (p.Val331Met)
c.533G>A
c.3034G>A (p.Val1012Met)
c.3016G>A (p.Val1006Met)
c.2854G>A (p.Val952Met)
c.2962G>A (p.Val988Met)
c.2944G>A (p.Val982Met)
c.2668G>A (p.Val890Met)
n.3243G>A
c.2836G>A (p.Val946Met)
c.2650G>A (p.Val884Met)
n.3246G>A
c.2941G>A (p.Val981Met)
c.3007G>A (p.Val1003Met)
c.2959G>A (p.Val987Met)
c.2824G>A (p.Val942Met)
c.2896-73G>A (n.2896-73G>A)
16g.28836050G>CCA395409198ATXN2Lc.3013G>C (p.Val1005Leu)
c.988G>C (p.Val330Leu)
n.3387G>C
c.208G>C (p.Val70Leu)
c.3031G>C (p.Val1011Leu)
c.2077G>C (n.2077G>C)
c.282G>C
c.991G>C (p.Val331Leu)
c.533G>C
c.3034G>C (p.Val1012Leu)
c.3016G>C (p.Val1006Leu)
c.2854G>C (p.Val952Leu)
c.2962G>C (p.Val988Leu)
c.2944G>C (p.Val982Leu)
c.2668G>C (p.Val890Leu)
n.3243G>C
c.2836G>C (p.Val946Leu)
c.2650G>C (p.Val884Leu)
n.3246G>C
c.2941G>C (p.Val981Leu)
c.3007G>C (p.Val1003Leu)
c.2959G>C (p.Val987Leu)
c.2824G>C (p.Val942Leu)
c.2896-73G>C (n.2896-73G>C)
16g.28836050G>TCA395409197ATXN2Lc.3013G>T (p.Val1005Leu)
c.988G>T (p.Val330Leu)
n.3387G>T
c.208G>T (p.Val70Leu)
c.3031G>T (p.Val1011Leu)
c.2077G>T (n.2077G>T)
c.282G>T
c.991G>T (p.Val331Leu)
c.533G>T
c.3034G>T (p.Val1012Leu)
c.3016G>T (p.Val1006Leu)
c.2854G>T (p.Val952Leu)
c.2962G>T (p.Val988Leu)
c.2944G>T (p.Val982Leu)
c.2668G>T (p.Val890Leu)
n.3243G>T
c.2836G>T (p.Val946Leu)
c.2650G>T (p.Val884Leu)
n.3246G>T
c.2941G>T (p.Val981Leu)
c.3007G>T (p.Val1003Leu)
c.2959G>T (p.Val987Leu)
c.2824G>T (p.Val942Leu)
c.2896-73G>T (n.2896-73G>T)
16g.28836051T>ACA395409203ATXN2Lc.3014T>A (p.Val1005Glu)
c.989T>A (p.Val330Glu)
n.3388T>A
c.209T>A (p.Val70Glu)
c.3032T>A (p.Val1011Glu)
c.2078T>A (n.2078T>A)
c.283T>A
c.992T>A (p.Val331Glu)
c.534T>A
c.3035T>A (p.Val1012Glu)
c.3017T>A (p.Val1006Glu)
c.2855T>A (p.Val952Glu)
c.2963T>A (p.Val988Glu)
c.2945T>A (p.Val982Glu)
c.2669T>A (p.Val890Glu)
n.3244T>A
c.2837T>A (p.Val946Glu)
c.2651T>A (p.Val884Glu)
n.3247T>A
c.2942T>A (p.Val981Glu)
c.3008T>A (p.Val1003Glu)
c.2960T>A (p.Val987Glu)
c.2825T>A (p.Val942Glu)
c.2896-72T>A (n.2896-72T>A)
16g.28836051T>CCA395409207ATXN2Lc.3014T>C (p.Val1005Ala)
c.989T>C (p.Val330Ala)
n.3388T>C
c.209T>C (p.Val70Ala)
c.3032T>C (p.Val1011Ala)
c.2078T>C (n.2078T>C)
c.283T>C
c.992T>C (p.Val331Ala)
c.534T>C
c.3035T>C (p.Val1012Ala)
c.3017T>C (p.Val1006Ala)
c.2855T>C (p.Val952Ala)
c.2963T>C (p.Val988Ala)
c.2945T>C (p.Val982Ala)
c.2669T>C (p.Val890Ala)
n.3244T>C
c.2837T>C (p.Val946Ala)
c.2651T>C (p.Val884Ala)
n.3247T>C
c.2942T>C (p.Val981Ala)
c.3008T>C (p.Val1003Ala)
c.2960T>C (p.Val987Ala)
c.2825T>C (p.Val942Ala)
c.2896-72T>C (n.2896-72T>C)
16g.28836051T>GCA395409205ATXN2Lc.3014T>G (p.Val1005Gly)
c.989T>G (p.Val330Gly)
n.3388T>G
c.209T>G (p.Val70Gly)
c.3032T>G (p.Val1011Gly)
c.2078T>G (n.2078T>G)
c.283T>G
c.992T>G (p.Val331Gly)
c.534T>G
c.3035T>G (p.Val1012Gly)
c.3017T>G (p.Val1006Gly)
c.2855T>G (p.Val952Gly)
c.2963T>G (p.Val988Gly)
c.2945T>G (p.Val982Gly)
c.2669T>G (p.Val890Gly)
n.3244T>G
c.2837T>G (p.Val946Gly)
c.2651T>G (p.Val884Gly)
n.3247T>G
c.2942T>G (p.Val981Gly)
c.3008T>G (p.Val1003Gly)
c.2960T>G (p.Val987Gly)
c.2825T>G (p.Val942Gly)
c.2896-72T>G (n.2896-72T>G)
16g.28836052G>ACA494869210ATXN2Lc.3015G>A (p.Val1005=)
c.990G>A (p.Val330=)
n.3389G>A
c.210G>A (p.Val70=)
c.3033G>A (p.Val1011=)
c.2079G>A (n.2079G>A)
c.284G>A
c.993G>A (p.Val331=)
c.535G>A
c.3036G>A (p.Val1012=)
c.3018G>A (p.Val1006=)
c.2856G>A (p.Val952=)
c.2964G>A (p.Val988=)
c.2946G>A (p.Val982=)
c.2670G>A (p.Val890=)
n.3245G>A
c.2838G>A (p.Val946=)
c.2652G>A (p.Val884=)
n.3248G>A
c.2943G>A (p.Val981=)
c.3009G>A (p.Val1003=)
c.2961G>A (p.Val987=)
c.2826G>A (p.Val942=)
c.2896-71G>A (n.2896-71G>A)
16g.28836052G>CCA494869214ATXN2Lc.3015G>C (p.Val1005=)
c.990G>C (p.Val330=)
n.3389G>C
c.210G>C (p.Val70=)
c.3033G>C (p.Val1011=)
c.2079G>C (n.2079G>C)
c.284G>C
c.993G>C (p.Val331=)
c.535G>C
c.3036G>C (p.Val1012=)
c.3018G>C (p.Val1006=)
c.2856G>C (p.Val952=)
c.2964G>C (p.Val988=)
c.2946G>C (p.Val982=)
c.2670G>C (p.Val890=)
n.3245G>C
c.2838G>C (p.Val946=)
c.2652G>C (p.Val884=)
n.3248G>C
c.2943G>C (p.Val981=)
c.3009G>C (p.Val1003=)
c.2961G>C (p.Val987=)
c.2826G>C (p.Val942=)
c.2896-71G>C (n.2896-71G>C)
16g.28836052G>TCA494869224ATXN2Lc.3015G>T (p.Val1005=)
c.990G>T (p.Val330=)
n.3389G>T
c.210G>T (p.Val70=)
c.3033G>T (p.Val1011=)
c.2079G>T (n.2079G>T)
c.284G>T
c.993G>T (p.Val331=)
c.535G>T
c.3036G>T (p.Val1012=)
c.3018G>T (p.Val1006=)
c.2856G>T (p.Val952=)
c.2964G>T (p.Val988=)
c.2946G>T (p.Val982=)
c.2670G>T (p.Val890=)
n.3245G>T
c.2838G>T (p.Val946=)
c.2652G>T (p.Val884=)
n.3248G>T
c.2943G>T (p.Val981=)
c.3009G>T (p.Val1003=)
c.2961G>T (p.Val987=)
c.2826G>T (p.Val942=)
c.2896-71G>T (n.2896-71G>T)
16g.28836053C>ACA395409208ATXN2Lc.3016C>A (p.Pro1006Thr)
c.991C>A (p.Pro331Thr)
n.3390C>A
c.211C>A (p.Pro71Thr)
c.3034C>A (p.Pro1012Thr)
c.2080C>A (n.2080C>A)
c.285C>A
c.994C>A (p.Pro332Thr)
c.536C>A
c.3037C>A (p.Pro1013Thr)
c.3019C>A (p.Pro1007Thr)
c.2857C>A (p.Pro953Thr)
c.2965C>A (p.Pro989Thr)
c.2947C>A (p.Pro983Thr)
c.2671C>A (p.Pro891Thr)
n.3246C>A
c.2839C>A (p.Pro947Thr)
c.2653C>A (p.Pro885Thr)
n.3249C>A
c.2944C>A (p.Pro982Thr)
c.3010C>A (p.Pro1004Thr)
c.2962C>A (p.Pro988Thr)
c.2827C>A (p.Pro943Thr)
c.2896-70C>A (n.2896-70C>A)
16g.28836053C>GCA395409209ATXN2Lc.3016C>G (p.Pro1006Ala)
c.991C>G (p.Pro331Ala)
n.3390C>G
c.211C>G (p.Pro71Ala)
c.3034C>G (p.Pro1012Ala)
c.2080C>G (n.2080C>G)
c.285C>G
c.994C>G (p.Pro332Ala)
c.536C>G
c.3037C>G (p.Pro1013Ala)
c.3019C>G (p.Pro1007Ala)
c.2857C>G (p.Pro953Ala)
c.2965C>G (p.Pro989Ala)
c.2947C>G (p.Pro983Ala)
c.2671C>G (p.Pro891Ala)
n.3246C>G
c.2839C>G (p.Pro947Ala)
c.2653C>G (p.Pro885Ala)
n.3249C>G
c.2944C>G (p.Pro982Ala)
c.3010C>G (p.Pro1004Ala)
c.2962C>G (p.Pro988Ala)
c.2827C>G (p.Pro943Ala)
c.2896-70C>G (n.2896-70C>G)
16g.28836053C>TCA395409210ATXN2Lc.3016C>T (p.Pro1006Ser)
c.991C>T (p.Pro331Ser)
n.3390C>T
c.211C>T (p.Pro71Ser)
c.3034C>T (p.Pro1012Ser)
c.2080C>T (n.2080C>T)
c.285C>T
c.994C>T (p.Pro332Ser)
c.536C>T
c.3037C>T (p.Pro1013Ser)
c.3019C>T (p.Pro1007Ser)
c.2857C>T (p.Pro953Ser)
c.2965C>T (p.Pro989Ser)
c.2947C>T (p.Pro983Ser)
c.2671C>T (p.Pro891Ser)
n.3246C>T
c.2839C>T (p.Pro947Ser)
c.2653C>T (p.Pro885Ser)
n.3249C>T
c.2944C>T (p.Pro982Ser)
c.3010C>T (p.Pro1004Ser)
c.2962C>T (p.Pro988Ser)
c.2827C>T (p.Pro943Ser)
c.2896-70C>T (n.2896-70C>T)
16g.28836054C>ACA395409211ATXN2Lc.3017C>A (p.Pro1006His)
c.992C>A (p.Pro331His)
n.3391C>A
c.212C>A (p.Pro71His)
c.3035C>A (p.Pro1012His)
c.2081C>A (n.2081C>A)
c.286C>A
c.995C>A (p.Pro332His)
c.537C>A
c.3038C>A (p.Pro1013His)
c.3020C>A (p.Pro1007His)
c.2858C>A (p.Pro953His)
c.2966C>A (p.Pro989His)
c.2948C>A (p.Pro983His)
c.2672C>A (p.Pro891His)
n.3247C>A
c.2840C>A (p.Pro947His)
c.2654C>A (p.Pro885His)
n.3250C>A
c.2945C>A (p.Pro982His)
c.3011C>A (p.Pro1004His)
c.2963C>A (p.Pro988His)
c.2828C>A (p.Pro943His)
c.2896-69C>A (n.2896-69C>A)
16g.28836054C>GCA395409212ATXN2Lc.3017C>G (p.Pro1006Arg)
c.992C>G (p.Pro331Arg)
n.3391C>G
c.212C>G (p.Pro71Arg)
c.3035C>G (p.Pro1012Arg)
c.2081C>G (n.2081C>G)
c.286C>G
c.995C>G (p.Pro332Arg)
c.537C>G
c.3038C>G (p.Pro1013Arg)
c.3020C>G (p.Pro1007Arg)
c.2858C>G (p.Pro953Arg)
c.2966C>G (p.Pro989Arg)
c.2948C>G (p.Pro983Arg)
c.2672C>G (p.Pro891Arg)
n.3247C>G
c.2840C>G (p.Pro947Arg)
c.2654C>G (p.Pro885Arg)
n.3250C>G
c.2945C>G (p.Pro982Arg)
c.3011C>G (p.Pro1004Arg)
c.2963C>G (p.Pro988Arg)
c.2828C>G (p.Pro943Arg)
c.2896-69C>G (n.2896-69C>G)
16g.28836054C>TCA395409213ATXN2Lc.3017C>T (p.Pro1006Leu)
c.992C>T (p.Pro331Leu)
n.3391C>T
c.212C>T (p.Pro71Leu)
c.3035C>T (p.Pro1012Leu)
c.2081C>T (n.2081C>T)
c.286C>T
c.995C>T (p.Pro332Leu)
c.537C>T
c.3038C>T (p.Pro1013Leu)
c.3020C>T (p.Pro1007Leu)
c.2858C>T (p.Pro953Leu)
c.2966C>T (p.Pro989Leu)
c.2948C>T (p.Pro983Leu)
c.2672C>T (p.Pro891Leu)
n.3247C>T
c.2840C>T (p.Pro947Leu)
c.2654C>T (p.Pro885Leu)
n.3250C>T
c.2945C>T (p.Pro982Leu)
c.3011C>T (p.Pro1004Leu)
c.2963C>T (p.Pro988Leu)
c.2828C>T (p.Pro943Leu)
c.2896-69C>T (n.2896-69C>T)
16g.28836055C>ACA494869237ATXN2Lc.3018C>A (p.Pro1006=)
c.993C>A (p.Pro331=)
n.3392C>A
c.213C>A (p.Pro71=)
c.3036C>A (p.Pro1012=)
c.2082C>A (n.2082C>A)
c.287C>A
c.996C>A (p.Pro332=)
c.538C>A
c.3039C>A (p.Pro1013=)
c.3021C>A (p.Pro1007=)
c.2859C>A (p.Pro953=)
c.2967C>A (p.Pro989=)
c.2949C>A (p.Pro983=)
c.2673C>A (p.Pro891=)
n.3248C>A
c.2841C>A (p.Pro947=)
c.2655C>A (p.Pro885=)
n.3251C>A
c.2946C>A (p.Pro982=)
c.3012C>A (p.Pro1004=)
c.2964C>A (p.Pro988=)
c.2829C>A (p.Pro943=)
c.2896-68C>A (n.2896-68C>A)
16g.28836055C=CA2215806875ATXN2Lc.3018C= (p.Pro1006=)
c.993C= (p.Pro331=)
n.3392C=
c.213C= (p.Pro71=)
c.3036C= (p.Pro1012=)
c.2082C= (n.2082C=)
c.287C=
c.996C= (p.Pro332=)
c.538C=
c.3039C= (p.Pro1013=)
c.3021C= (p.Pro1007=)
c.2859C= (p.Pro953=)
c.2967C= (p.Pro989=)
c.2949C= (p.Pro983=)
c.2673C= (p.Pro891=)
n.3248C=
c.2841C= (p.Pro947=)
c.2655C= (p.Pro885=)
n.3251C=
c.2946C= (p.Pro982=)
c.3012C= (p.Pro1004=)
c.2964C= (p.Pro988=)
c.2829C= (p.Pro943=)
c.2896-68C= (n.2896-68C=)
16g.28836055C>GCA494869235ATXN2Lc.3018C>G (p.Pro1006=)
c.993C>G (p.Pro331=)
n.3392C>G
c.213C>G (p.Pro71=)
c.3036C>G (p.Pro1012=)
c.2082C>G (n.2082C>G)
c.287C>G
c.996C>G (p.Pro332=)
c.538C>G
c.3039C>G (p.Pro1013=)
c.3021C>G (p.Pro1007=)
c.2859C>G (p.Pro953=)
c.2967C>G (p.Pro989=)
c.2949C>G (p.Pro983=)
c.2673C>G (p.Pro891=)
n.3248C>G
c.2841C>G (p.Pro947=)
c.2655C>G (p.Pro885=)
n.3251C>G
c.2946C>G (p.Pro982=)
c.3012C>G (p.Pro1004=)
c.2964C>G (p.Pro988=)
c.2829C>G (p.Pro943=)
c.2896-68C>G (n.2896-68C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.28836055C>TCA494869236ATXN2Lc.3018C>T (p.Pro1006=)
c.993C>T (p.Pro331=)
n.3392C>T
c.213C>T (p.Pro71=)
c.3036C>T (p.Pro1012=)
c.2082C>T (n.2082C>T)
c.287C>T
c.996C>T (p.Pro332=)
c.538C>T
c.3039C>T (p.Pro1013=)
c.3021C>T (p.Pro1007=)
c.2859C>T (p.Pro953=)
c.2967C>T (p.Pro989=)
c.2949C>T (p.Pro983=)
c.2673C>T (p.Pro891=)
n.3248C>T
c.2841C>T (p.Pro947=)
c.2655C>T (p.Pro885=)
n.3251C>T
c.2946C>T (p.Pro982=)
c.3012C>T (p.Pro1004=)
c.2964C>T (p.Pro988=)
c.2829C>T (p.Pro943=)
c.2896-68C>T (n.2896-68C>T)
16g.28836056C>ACA395409214ATXN2Lc.3019C>A (p.Gln1007Lys)
c.994C>A (p.Gln332Lys)
n.3393C>A
c.214C>A (p.Gln72Lys)
c.3037C>A (p.Gln1013Lys)
c.2083C>A (n.2083C>A)
c.288C>A
c.997C>A (p.Gln333Lys)
c.539C>A
c.3040C>A (p.Gln1014Lys)
c.3022C>A (p.Gln1008Lys)
c.2860C>A (p.Gln954Lys)
c.2968C>A (p.Gln990Lys)
c.2950C>A (p.Gln984Lys)
c.2674C>A (p.Gln892Lys)
n.3249C>A
c.2842C>A (p.Gln948Lys)
c.2656C>A (p.Gln886Lys)
n.3252C>A
c.2947C>A (p.Gln983Lys)
c.3013C>A (p.Gln1005Lys)
c.2965C>A (p.Gln989Lys)
c.2830C>A (p.Gln944Lys)
c.2896-67C>A (n.2896-67C>A)
16g.28836056C>GCA395409215ATXN2Lc.3019C>G (p.Gln1007Glu)
c.994C>G (p.Gln332Glu)
n.3393C>G
c.214C>G (p.Gln72Glu)
c.3037C>G (p.Gln1013Glu)
c.2083C>G (n.2083C>G)
c.288C>G
c.997C>G (p.Gln333Glu)
c.539C>G
c.3040C>G (p.Gln1014Glu)
c.3022C>G (p.Gln1008Glu)
c.2860C>G (p.Gln954Glu)
c.2968C>G (p.Gln990Glu)
c.2950C>G (p.Gln984Glu)
c.2674C>G (p.Gln892Glu)
n.3249C>G
c.2842C>G (p.Gln948Glu)
c.2656C>G (p.Gln886Glu)
n.3252C>G
c.2947C>G (p.Gln983Glu)
c.3013C>G (p.Gln1005Glu)
c.2965C>G (p.Gln989Glu)
c.2830C>G (p.Gln944Glu)
c.2896-67C>G (n.2896-67C>G)
16g.28836056C>TCA395409216ATXN2Lc.3019C>T (p.Gln1007Ter)
c.994C>T (p.Gln332Ter)
n.3393C>T
c.214C>T (p.Gln72Ter)
c.3037C>T (p.Gln1013Ter)
c.2083C>T (n.2083C>T)
c.288C>T
c.997C>T (p.Gln333Ter)
c.539C>T
c.3040C>T (p.Gln1014Ter)
c.3022C>T (p.Gln1008Ter)
c.2860C>T (p.Gln954Ter)
c.2968C>T (p.Gln990Ter)
c.2950C>T (p.Gln984Ter)
c.2674C>T (p.Gln892Ter)
n.3249C>T
c.2842C>T (p.Gln948Ter)
c.2656C>T (p.Gln886Ter)
n.3252C>T
c.2947C>T (p.Gln983Ter)
c.3013C>T (p.Gln1005Ter)
c.2965C>T (p.Gln989Ter)
c.2830C>T (p.Gln944Ter)
c.2896-67C>T (n.2896-67C>T)
16g.28836057A>CCA395409217ATXN2Lc.3020A>C (p.Gln1007Pro)
c.995A>C (p.Gln332Pro)
n.3394A>C
c.215A>C (p.Gln72Pro)
c.3038A>C (p.Gln1013Pro)
c.2084A>C (n.2084A>C)
c.289A>C
c.998A>C (p.Gln333Pro)
c.540A>C
c.3041A>C (p.Gln1014Pro)
c.3023A>C (p.Gln1008Pro)
c.2861A>C (p.Gln954Pro)
c.2969A>C (p.Gln990Pro)
c.2951A>C (p.Gln984Pro)
c.2675A>C (p.Gln892Pro)
n.3250A>C
c.2843A>C (p.Gln948Pro)
c.2657A>C (p.Gln886Pro)
n.3253A>C
c.2948A>C (p.Gln983Pro)
c.3014A>C (p.Gln1005Pro)
c.2966A>C (p.Gln989Pro)
c.2831A>C (p.Gln944Pro)
c.2896-66A>C (n.2896-66A>C)
 COSMIC COSMIC COSMIC COSMIC
16g.28836057A>GCA395409218ATXN2Lc.3020A>G (p.Gln1007Arg)
c.995A>G (p.Gln332Arg)
n.3394A>G
c.215A>G (p.Gln72Arg)
c.3038A>G (p.Gln1013Arg)
c.2084A>G (n.2084A>G)
c.289A>G
c.998A>G (p.Gln333Arg)
c.540A>G
c.3041A>G (p.Gln1014Arg)
c.3023A>G (p.Gln1008Arg)
c.2861A>G (p.Gln954Arg)
c.2969A>G (p.Gln990Arg)
c.2951A>G (p.Gln984Arg)
c.2675A>G (p.Gln892Arg)
n.3250A>G
c.2843A>G (p.Gln948Arg)
c.2657A>G (p.Gln886Arg)
n.3253A>G
c.2948A>G (p.Gln983Arg)
c.3014A>G (p.Gln1005Arg)
c.2966A>G (p.Gln989Arg)
c.2831A>G (p.Gln944Arg)
c.2896-66A>G (n.2896-66A>G)
16g.28836057A>TCA395409219ATXN2Lc.3020A>T (p.Gln1007Leu)
c.995A>T (p.Gln332Leu)
n.3394A>T
c.215A>T (p.Gln72Leu)
c.3038A>T (p.Gln1013Leu)
c.2084A>T (n.2084A>T)
c.289A>T
c.998A>T (p.Gln333Leu)
c.540A>T
c.3041A>T (p.Gln1014Leu)
c.3023A>T (p.Gln1008Leu)
c.2861A>T (p.Gln954Leu)
c.2969A>T (p.Gln990Leu)
c.2951A>T (p.Gln984Leu)
c.2675A>T (p.Gln892Leu)
n.3250A>T
c.2843A>T (p.Gln948Leu)
c.2657A>T (p.Gln886Leu)
n.3253A>T
c.2948A>T (p.Gln983Leu)
c.3014A>T (p.Gln1005Leu)
c.2966A>T (p.Gln989Leu)
c.2831A>T (p.Gln944Leu)
c.2896-66A>T (n.2896-66A>T)
16g.28836058G>ACA494869254ATXN2Lc.3021G>A (p.Gln1007=)
c.996G>A (p.Gln332=)
n.3395G>A
c.216G>A (p.Gln72=)
c.3039G>A (p.Gln1013=)
c.2085G>A (n.2085G>A)
c.290G>A
c.999G>A (p.Gln333=)
c.541G>A
c.3042G>A (p.Gln1014=)
c.3024G>A (p.Gln1008=)
c.2862G>A (p.Gln954=)
c.2970G>A (p.Gln990=)
c.2952G>A (p.Gln984=)
c.2676G>A (p.Gln892=)
n.3251G>A
c.2844G>A (p.Gln948=)
c.2658G>A (p.Gln886=)
n.3254G>A
c.2949G>A (p.Gln983=)
c.3015G>A (p.Gln1005=)
c.2967G>A (p.Gln989=)
c.2832G>A (p.Gln944=)
c.2896-65G>A (n.2896-65G>A)
16g.28836058G>CCA395409220ATXN2Lc.3021G>C (p.Gln1007His)
c.996G>C (p.Gln332His)
n.3395G>C
c.216G>C (p.Gln72His)
c.3039G>C (p.Gln1013His)
c.2085G>C (n.2085G>C)
c.290G>C
c.999G>C (p.Gln333His)
c.541G>C
c.3042G>C (p.Gln1014His)
c.3024G>C (p.Gln1008His)
c.2862G>C (p.Gln954His)
c.2970G>C (p.Gln990His)
c.2952G>C (p.Gln984His)
c.2676G>C (p.Gln892His)
n.3251G>C
c.2844G>C (p.Gln948His)
c.2658G>C (p.Gln886His)
n.3254G>C
c.2949G>C (p.Gln983His)
c.3015G>C (p.Gln1005His)
c.2967G>C (p.Gln989His)
c.2832G>C (p.Gln944His)
c.2896-65G>C (n.2896-65G>C)
16g.28836058G>TCA395409221ATXN2Lc.3021G>T (p.Gln1007His)
c.996G>T (p.Gln332His)
n.3395G>T
c.216G>T (p.Gln72His)
c.3039G>T (p.Gln1013His)
c.2085G>T (n.2085G>T)
c.290G>T
c.999G>T (p.Gln333His)
c.541G>T
c.3042G>T (p.Gln1014His)
c.3024G>T (p.Gln1008His)
c.2862G>T (p.Gln954His)
c.2970G>T (p.Gln990His)
c.2952G>T (p.Gln984His)
c.2676G>T (p.Gln892His)
n.3251G>T
c.2844G>T (p.Gln948His)
c.2658G>T (p.Gln886His)
n.3254G>T
c.2949G>T (p.Gln983His)
c.3015G>T (p.Gln1005His)
c.2967G>T (p.Gln989His)
c.2832G>T (p.Gln944His)
c.2896-65G>T (n.2896-65G>T)
16g.28836059A>CCA395409222ATXN2Lc.3022A>C (p.Ser1008Arg)
c.997A>C (p.Ser333Arg)
n.3396A>C
c.217A>C (p.Ser73Arg)
c.3040A>C (p.Ser1014Arg)
c.2086A>C (n.2086A>C)
c.291A>C
c.1000A>C (p.Ser334Arg)
c.542A>C
c.3043A>C (p.Ser1015Arg)
c.3025A>C (p.Ser1009Arg)
c.2863A>C (p.Ser955Arg)
c.2971A>C (p.Ser991Arg)
c.2953A>C (p.Ser985Arg)
c.2677A>C (p.Ser893Arg)
n.3252A>C
c.2845A>C (p.Ser949Arg)
c.2659A>C (p.Ser887Arg)
n.3255A>C
c.2950A>C (p.Ser984Arg)
c.3016A>C (p.Ser1006Arg)
c.2968A>C (p.Ser990Arg)
c.2833A>C (p.Ser945Arg)
c.2896-64A>C (n.2896-64A>C)
16g.28836059A>GCA395409223ATXN2Lc.3022A>G (p.Ser1008Gly)
c.997A>G (p.Ser333Gly)
n.3396A>G
c.217A>G (p.Ser73Gly)
c.3040A>G (p.Ser1014Gly)
c.2086A>G (n.2086A>G)
c.291A>G
c.1000A>G (p.Ser334Gly)
c.542A>G
c.3043A>G (p.Ser1015Gly)
c.3025A>G (p.Ser1009Gly)
c.2863A>G (p.Ser955Gly)
c.2971A>G (p.Ser991Gly)
c.2953A>G (p.Ser985Gly)
c.2677A>G (p.Ser893Gly)
n.3252A>G
c.2845A>G (p.Ser949Gly)
c.2659A>G (p.Ser887Gly)
n.3255A>G
c.2950A>G (p.Ser984Gly)
c.3016A>G (p.Ser1006Gly)
c.2968A>G (p.Ser990Gly)
c.2833A>G (p.Ser945Gly)
c.2896-64A>G (n.2896-64A>G)
16g.28836059A>TCA395409224ATXN2Lc.3022A>T (p.Ser1008Cys)
c.997A>T (p.Ser333Cys)
n.3396A>T
c.217A>T (p.Ser73Cys)
c.3040A>T (p.Ser1014Cys)
c.2086A>T (n.2086A>T)
c.291A>T
c.1000A>T (p.Ser334Cys)
c.542A>T
c.3043A>T (p.Ser1015Cys)
c.3025A>T (p.Ser1009Cys)
c.2863A>T (p.Ser955Cys)
c.2971A>T (p.Ser991Cys)
c.2953A>T (p.Ser985Cys)
c.2677A>T (p.Ser893Cys)
n.3252A>T
c.2845A>T (p.Ser949Cys)
c.2659A>T (p.Ser887Cys)
n.3255A>T
c.2950A>T (p.Ser984Cys)
c.3016A>T (p.Ser1006Cys)
c.2968A>T (p.Ser990Cys)
c.2833A>T (p.Ser945Cys)
c.2896-64A>T (n.2896-64A>T)
16g.28836060G>ACA395409225ATXN2Lc.3023G>A (p.Ser1008Asn)
c.998G>A (p.Ser333Asn)
n.3397G>A
c.218G>A (p.Ser73Asn)
c.3041G>A (p.Ser1014Asn)
c.2087G>A (n.2087G>A)
c.292G>A
c.1001G>A (p.Ser334Asn)
c.543G>A
c.3044G>A (p.Ser1015Asn)
c.3026G>A (p.Ser1009Asn)
c.2864G>A (p.Ser955Asn)
c.2972G>A (p.Ser991Asn)
c.2954G>A (p.Ser985Asn)
c.2678G>A (p.Ser893Asn)
n.3253G>A
c.2846G>A (p.Ser949Asn)
c.2660G>A (p.Ser887Asn)
n.3256G>A
c.2951G>A (p.Ser984Asn)
c.3017G>A (p.Ser1006Asn)
c.2969G>A (p.Ser990Asn)
c.2834G>A (p.Ser945Asn)
c.2896-63G>A (n.2896-63G>A)
16g.28836060G>CCA395409226ATXN2Lc.3023G>C (p.Ser1008Thr)
c.998G>C (p.Ser333Thr)
n.3397G>C
c.218G>C (p.Ser73Thr)
c.3041G>C (p.Ser1014Thr)
c.2087G>C (n.2087G>C)
c.292G>C
c.1001G>C (p.Ser334Thr)
c.543G>C
c.3044G>C (p.Ser1015Thr)
c.3026G>C (p.Ser1009Thr)
c.2864G>C (p.Ser955Thr)
c.2972G>C (p.Ser991Thr)
c.2954G>C (p.Ser985Thr)
c.2678G>C (p.Ser893Thr)
n.3253G>C
c.2846G>C (p.Ser949Thr)
c.2660G>C (p.Ser887Thr)
n.3256G>C
c.2951G>C (p.Ser984Thr)
c.3017G>C (p.Ser1006Thr)
c.2969G>C (p.Ser990Thr)
c.2834G>C (p.Ser945Thr)
c.2896-63G>C (n.2896-63G>C)
16g.28836060G>TCA395409227ATXN2Lc.3023G>T (p.Ser1008Ile)
c.998G>T (p.Ser333Ile)
n.3397G>T
c.218G>T (p.Ser73Ile)
c.3041G>T (p.Ser1014Ile)
c.2087G>T (n.2087G>T)
c.292G>T
c.1001G>T (p.Ser334Ile)
c.543G>T
c.3044G>T (p.Ser1015Ile)
c.3026G>T (p.Ser1009Ile)
c.2864G>T (p.Ser955Ile)
c.2972G>T (p.Ser991Ile)
c.2954G>T (p.Ser985Ile)
c.2678G>T (p.Ser893Ile)
n.3253G>T
c.2846G>T (p.Ser949Ile)
c.2660G>T (p.Ser887Ile)
n.3256G>T
c.2951G>T (p.Ser984Ile)
c.3017G>T (p.Ser1006Ile)
c.2969G>T (p.Ser990Ile)
c.2834G>T (p.Ser945Ile)
c.2896-63G>T (n.2896-63G>T)
16g.28836061T>ACA395409228ATXN2Lc.3024T>A (p.Ser1008Arg)
c.999T>A (p.Ser333Arg)
n.3398T>A
c.219T>A (p.Ser73Arg)
c.3042T>A (p.Ser1014Arg)
c.2088T>A (n.2088T>A)
c.293T>A
c.1002T>A (p.Ser334Arg)
c.544T>A
c.3045T>A (p.Ser1015Arg)
c.3027T>A (p.Ser1009Arg)
c.2865T>A (p.Ser955Arg)
c.2973T>A (p.Ser991Arg)
c.2955T>A (p.Ser985Arg)
c.2679T>A (p.Ser893Arg)
n.3254T>A
c.2847T>A (p.Ser949Arg)
c.2661T>A (p.Ser887Arg)
n.3257T>A
c.2952T>A (p.Ser984Arg)
c.3018T>A (p.Ser1006Arg)
c.2970T>A (p.Ser990Arg)
c.2835T>A (p.Ser945Arg)
c.2896-62T>A (n.2896-62T>A)
16g.28836061T>CCA494869268ATXN2Lc.3024T>C (p.Ser1008=)
c.999T>C (p.Ser333=)
n.3398T>C
c.219T>C (p.Ser73=)
c.3042T>C (p.Ser1014=)
c.2088T>C (n.2088T>C)
c.293T>C
c.1002T>C (p.Ser334=)
c.544T>C
c.3045T>C (p.Ser1015=)
c.3027T>C (p.Ser1009=)
c.2865T>C (p.Ser955=)
c.2973T>C (p.Ser991=)
c.2955T>C (p.Ser985=)
c.2679T>C (p.Ser893=)
n.3254T>C
c.2847T>C (p.Ser949=)
c.2661T>C (p.Ser887=)
n.3257T>C
c.2952T>C (p.Ser984=)
c.3018T>C (p.Ser1006=)
c.2970T>C (p.Ser990=)
c.2835T>C (p.Ser945=)
c.2896-62T>C (n.2896-62T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.28836061T>GCA395409229ATXN2Lc.3024T>G (p.Ser1008Arg)
c.999T>G (p.Ser333Arg)
n.3398T>G
c.219T>G (p.Ser73Arg)
c.3042T>G (p.Ser1014Arg)
c.2088T>G (n.2088T>G)
c.293T>G
c.1002T>G (p.Ser334Arg)
c.544T>G
c.3045T>G (p.Ser1015Arg)
c.3027T>G (p.Ser1009Arg)
c.2865T>G (p.Ser955Arg)
c.2973T>G (p.Ser991Arg)
c.2955T>G (p.Ser985Arg)
c.2679T>G (p.Ser893Arg)
n.3254T>G
c.2847T>G (p.Ser949Arg)
c.2661T>G (p.Ser887Arg)
n.3257T>G
c.2952T>G (p.Ser984Arg)
c.3018T>G (p.Ser1006Arg)
c.2970T>G (p.Ser990Arg)
c.2835T>G (p.Ser945Arg)
c.2896-62T>G (n.2896-62T>G)
 gnomAD v4
16g.28836061T=CA2215806879ATXN2Lc.3024T= (p.Ser1008=)
c.999T= (p.Ser333=)
n.3398T=
c.219T= (p.Ser73=)
c.3042T= (p.Ser1014=)
c.2088T= (n.2088T=)
c.293T=
c.1002T= (p.Ser334=)
c.544T=
c.3045T= (p.Ser1015=)
c.3027T= (p.Ser1009=)
c.2865T= (p.Ser955=)
c.2973T= (p.Ser991=)
c.2955T= (p.Ser985=)
c.2679T= (p.Ser893=)
n.3254T=
c.2847T= (p.Ser949=)
c.2661T= (p.Ser887=)
n.3257T=
c.2952T= (p.Ser984=)
c.3018T= (p.Ser1006=)
c.2970T= (p.Ser990=)
c.2835T= (p.Ser945=)
c.2896-62T= (n.2896-62T=)
16g.28836062G>ACA395409230ATXN2Lc.3025G>A (p.Gly1009Arg)
c.1000G>A (p.Gly334Arg)
n.3399G>A
c.220G>A (p.Gly74Arg)
c.3043G>A (p.Gly1015Arg)
c.2089G>A (n.2089G>A)
c.294G>A
c.1003G>A (p.Gly335Arg)
c.545G>A
c.3046G>A (p.Gly1016Arg)
c.3028G>A (p.Gly1010Arg)
c.2866G>A (p.Gly956Arg)
c.2974G>A (p.Gly992Arg)
c.2956G>A (p.Gly986Arg)
c.2680G>A (p.Gly894Arg)
n.3255G>A
c.2848G>A (p.Gly950Arg)
c.2662G>A (p.Gly888Arg)
n.3258G>A
c.2953G>A (p.Gly985Arg)
c.3019G>A (p.Gly1007Arg)
c.2971G>A (p.Gly991Arg)
c.2836G>A (p.Gly946Arg)
c.2896-61G>A (n.2896-61G>A)
16g.28836062G>CCA395409231ATXN2Lc.3025G>C (p.Gly1009Arg)
c.1000G>C (p.Gly334Arg)
n.3399G>C
c.220G>C (p.Gly74Arg)
c.3043G>C (p.Gly1015Arg)
c.2089G>C (n.2089G>C)
c.294G>C
c.1003G>C (p.Gly335Arg)
c.545G>C
c.3046G>C (p.Gly1016Arg)
c.3028G>C (p.Gly1010Arg)
c.2866G>C (p.Gly956Arg)
c.2974G>C (p.Gly992Arg)
c.2956G>C (p.Gly986Arg)
c.2680G>C (p.Gly894Arg)
n.3255G>C
c.2848G>C (p.Gly950Arg)
c.2662G>C (p.Gly888Arg)
n.3258G>C
c.2953G>C (p.Gly985Arg)
c.3019G>C (p.Gly1007Arg)
c.2971G>C (p.Gly991Arg)
c.2836G>C (p.Gly946Arg)
c.2896-61G>C (n.2896-61G>C)
16g.28836062G>TCA395409232ATXN2Lc.3025G>T (p.Gly1009Trp)
c.1000G>T (p.Gly334Trp)
n.3399G>T
c.220G>T (p.Gly74Trp)
c.3043G>T (p.Gly1015Trp)
c.2089G>T (n.2089G>T)
c.294G>T
c.1003G>T (p.Gly335Trp)
c.545G>T
c.3046G>T (p.Gly1016Trp)
c.3028G>T (p.Gly1010Trp)
c.2866G>T (p.Gly956Trp)
c.2974G>T (p.Gly992Trp)
c.2956G>T (p.Gly986Trp)
c.2680G>T (p.Gly894Trp)
n.3255G>T
c.2848G>T (p.Gly950Trp)
c.2662G>T (p.Gly888Trp)
n.3258G>T
c.2953G>T (p.Gly985Trp)
c.3019G>T (p.Gly1007Trp)
c.2971G>T (p.Gly991Trp)
c.2836G>T (p.Gly946Trp)
c.2896-61G>T (n.2896-61G>T)
16g.28836063G>ACA395409234ATXN2Lc.3026G>A (p.Gly1009Glu)
c.1001G>A (p.Gly334Glu)
n.3400G>A
c.221G>A (p.Gly74Glu)
c.3044G>A (p.Gly1015Glu)
c.2090G>A (n.2090G>A)
c.295G>A
c.1004G>A (p.Gly335Glu)
c.546G>A
c.3047G>A (p.Gly1016Glu)
c.3029G>A (p.Gly1010Glu)
c.2867G>A (p.Gly956Glu)
c.2975G>A (p.Gly992Glu)
c.2957G>A (p.Gly986Glu)
c.2681G>A (p.Gly894Glu)
n.3256G>A
c.2849G>A (p.Gly950Glu)
c.2663G>A (p.Gly888Glu)
n.3259G>A
c.2954G>A (p.Gly985Glu)
c.3020G>A (p.Gly1007Glu)
c.2972G>A (p.Gly991Glu)
c.2837G>A (p.Gly946Glu)
c.2896-60G>A (n.2896-60G>A)
16g.28836063G>CCA395409235ATXN2Lc.3026G>C (p.Gly1009Ala)
c.1001G>C (p.Gly334Ala)
n.3400G>C
c.221G>C (p.Gly74Ala)
c.3044G>C (p.Gly1015Ala)
c.2090G>C (n.2090G>C)
c.295G>C
c.1004G>C (p.Gly335Ala)
c.546G>C
c.3047G>C (p.Gly1016Ala)
c.3029G>C (p.Gly1010Ala)
c.2867G>C (p.Gly956Ala)
c.2975G>C (p.Gly992Ala)
c.2957G>C (p.Gly986Ala)
c.2681G>C (p.Gly894Ala)
n.3256G>C
c.2849G>C (p.Gly950Ala)
c.2663G>C (p.Gly888Ala)
n.3259G>C
c.2954G>C (p.Gly985Ala)
c.3020G>C (p.Gly1007Ala)
c.2972G>C (p.Gly991Ala)
c.2837G>C (p.Gly946Ala)
c.2896-60G>C (n.2896-60G>C)
 gnomAD v4
16g.28836063G>TCA395409233ATXN2Lc.3026G>T (p.Gly1009Val)
c.1001G>T (p.Gly334Val)
n.3400G>T
c.221G>T (p.Gly74Val)
c.3044G>T (p.Gly1015Val)
c.2090G>T (n.2090G>T)
c.295G>T
c.1004G>T (p.Gly335Val)
c.546G>T
c.3047G>T (p.Gly1016Val)
c.3029G>T (p.Gly1010Val)
c.2867G>T (p.Gly956Val)
c.2975G>T (p.Gly992Val)
c.2957G>T (p.Gly986Val)
c.2681G>T (p.Gly894Val)
n.3256G>T
c.2849G>T (p.Gly950Val)
c.2663G>T (p.Gly888Val)
n.3259G>T
c.2954G>T (p.Gly985Val)
c.3020G>T (p.Gly1007Val)
c.2972G>T (p.Gly991Val)
c.2837G>T (p.Gly946Val)
c.2896-60G>T (n.2896-60G>T)
16g.28836064G>ACA7985160ATXN2Lc.3027G>A (p.Gly1009=)
c.1002G>A (p.Gly334=)
n.3401G>A
c.222G>A (p.Gly74=)
c.3045G>A (p.Gly1015=)
c.2091G>A (n.2091G>A)
c.296G>A
c.1005G>A (p.Gly335=)
c.547G>A
c.3048G>A (p.Gly1016=)
c.3030G>A (p.Gly1010=)
c.2868G>A (p.Gly956=)
c.2976G>A (p.Gly992=)
c.2958G>A (p.Gly986=)
c.2682G>A (p.Gly894=)
n.3257G>A
c.2850G>A (p.Gly950=)
c.2664G>A (p.Gly888=)
n.3260G>A
c.2955G>A (p.Gly985=)
c.3021G>A (p.Gly1007=)
c.2973G>A (p.Gly991=)
c.2838G>A (p.Gly946=)
c.2896-59G>A (n.2896-59G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836064G>CCA7985161ATXN2Lc.3027G>C (p.Gly1009=)
c.1002G>C (p.Gly334=)
n.3401G>C
c.222G>C (p.Gly74=)
c.3045G>C (p.Gly1015=)
c.2091G>C (n.2091G>C)
c.296G>C
c.1005G>C (p.Gly335=)
c.547G>C
c.3048G>C (p.Gly1016=)
c.3030G>C (p.Gly1010=)
c.2868G>C (p.Gly956=)
c.2976G>C (p.Gly992=)
c.2958G>C (p.Gly986=)
c.2682G>C (p.Gly894=)
n.3257G>C
c.2850G>C (p.Gly950=)
c.2664G>C (p.Gly888=)
n.3260G>C
c.2955G>C (p.Gly985=)
c.3021G>C (p.Gly1007=)
c.2973G>C (p.Gly991=)
c.2838G>C (p.Gly946=)
c.2896-59G>C (n.2896-59G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836064G=CA2215806884ATXN2Lc.3027G= (p.Gly1009=)
c.1002G= (p.Gly334=)
n.3401G=
c.222G= (p.Gly74=)
c.3045G= (p.Gly1015=)
c.2091G= (n.2091G=)
c.296G=
c.1005G= (p.Gly335=)
c.547G=
c.3048G= (p.Gly1016=)
c.3030G= (p.Gly1010=)
c.2868G= (p.Gly956=)
c.2976G= (p.Gly992=)
c.2958G= (p.Gly986=)
c.2682G= (p.Gly894=)
n.3257G=
c.2850G= (p.Gly950=)
c.2664G= (p.Gly888=)
n.3260G=
c.2955G= (p.Gly985=)
c.3021G= (p.Gly1007=)
c.2973G= (p.Gly991=)
c.2838G= (p.Gly946=)
c.2896-59G= (n.2896-59G=)
16g.28836064G>TCA494869330ATXN2Lc.3027G>T (p.Gly1009=)
c.1002G>T (p.Gly334=)
n.3401G>T
c.222G>T (p.Gly74=)
c.3045G>T (p.Gly1015=)
c.2091G>T (n.2091G>T)
c.296G>T
c.1005G>T (p.Gly335=)
c.547G>T
c.3048G>T (p.Gly1016=)
c.3030G>T (p.Gly1010=)
c.2868G>T (p.Gly956=)
c.2976G>T (p.Gly992=)
c.2958G>T (p.Gly986=)
c.2682G>T (p.Gly894=)
n.3257G>T
c.2850G>T (p.Gly950=)
c.2664G>T (p.Gly888=)
n.3260G>T
c.2955G>T (p.Gly985=)
c.3021G>T (p.Gly1007=)
c.2973G>T (p.Gly991=)
c.2838G>T (p.Gly946=)
c.2896-59G>T (n.2896-59G>T)
16g.28836065G>ACA395409236ATXN2Lc.3028G>A (p.Val1010Met)
c.1003G>A (p.Val335Met)
n.3402G>A
c.223G>A (p.Val75Met)
c.3046G>A (p.Val1016Met)
c.2092G>A (n.2092G>A)
c.297G>A
c.1006G>A (p.Val336Met)
c.548G>A
c.3049G>A (p.Val1017Met)
c.3031G>A (p.Val1011Met)
c.2869G>A (p.Val957Met)
c.2977G>A (p.Val993Met)
c.2959G>A (p.Val987Met)
c.2683G>A (p.Val895Met)
n.3258G>A
c.2851G>A (p.Val951Met)
c.2665G>A (p.Val889Met)
n.3261G>A
c.2956G>A (p.Val986Met)
c.3022G>A (p.Val1008Met)
c.2974G>A (p.Val992Met)
c.2839G>A (p.Val947Met)
c.2896-58G>A (n.2896-58G>A)
 gnomAD v4
16g.28836065G>CCA395409237ATXN2Lc.3028G>C (p.Val1010Leu)
c.1003G>C (p.Val335Leu)
n.3402G>C
c.223G>C (p.Val75Leu)
c.3046G>C (p.Val1016Leu)
c.2092G>C (n.2092G>C)
c.297G>C
c.1006G>C (p.Val336Leu)
c.548G>C
c.3049G>C (p.Val1017Leu)
c.3031G>C (p.Val1011Leu)
c.2869G>C (p.Val957Leu)
c.2977G>C (p.Val993Leu)
c.2959G>C (p.Val987Leu)
c.2683G>C (p.Val895Leu)
n.3258G>C
c.2851G>C (p.Val951Leu)
c.2665G>C (p.Val889Leu)
n.3261G>C
c.2956G>C (p.Val986Leu)
c.3022G>C (p.Val1008Leu)
c.2974G>C (p.Val992Leu)
c.2839G>C (p.Val947Leu)
c.2896-58G>C (n.2896-58G>C)
16g.28836065G=CA2215806887ATXN2Lc.3028G= (p.Val1010=)
c.1003G= (p.Val335=)
n.3402G=
c.223G= (p.Val75=)
c.3046G= (p.Val1016=)
c.2092G= (n.2092G=)
c.297G=
c.1006G= (p.Val336=)
c.548G=
c.3049G= (p.Val1017=)
c.3031G= (p.Val1011=)
c.2869G= (p.Val957=)
c.2977G= (p.Val993=)
c.2959G= (p.Val987=)
c.2683G= (p.Val895=)
n.3258G=
c.2851G= (p.Val951=)
c.2665G= (p.Val889=)
n.3261G=
c.2956G= (p.Val986=)
c.3022G= (p.Val1008=)
c.2974G= (p.Val992=)
c.2839G= (p.Val947=)
c.2896-58G= (n.2896-58G=)
16g.28836065G>TCA395409238ATXN2Lc.3028G>T (p.Val1010Leu)
c.1003G>T (p.Val335Leu)
n.3402G>T
c.223G>T (p.Val75Leu)
c.3046G>T (p.Val1016Leu)
c.2092G>T (n.2092G>T)
c.297G>T
c.1006G>T (p.Val336Leu)
c.548G>T
c.3049G>T (p.Val1017Leu)
c.3031G>T (p.Val1011Leu)
c.2869G>T (p.Val957Leu)
c.2977G>T (p.Val993Leu)
c.2959G>T (p.Val987Leu)
c.2683G>T (p.Val895Leu)
n.3258G>T
c.2851G>T (p.Val951Leu)
c.2665G>T (p.Val889Leu)
n.3261G>T
c.2956G>T (p.Val986Leu)
c.3022G>T (p.Val1008Leu)
c.2974G>T (p.Val992Leu)
c.2839G>T (p.Val947Leu)
c.2896-58G>T (n.2896-58G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.28836066T>ACA395409239ATXN2Lc.3029T>A (p.Val1010Glu)
c.1004T>A (p.Val335Glu)
n.3403T>A
c.224T>A (p.Val75Glu)
c.3047T>A (p.Val1016Glu)
c.2093T>A (n.2093T>A)
c.298T>A
c.1007T>A (p.Val336Glu)
c.549T>A
c.3050T>A (p.Val1017Glu)
c.3032T>A (p.Val1011Glu)
c.2870T>A (p.Val957Glu)
c.2978T>A (p.Val993Glu)
c.2960T>A (p.Val987Glu)
c.2684T>A (p.Val895Glu)
n.3259T>A
c.2852T>A (p.Val951Glu)
c.2666T>A (p.Val889Glu)
n.3262T>A
c.2957T>A (p.Val986Glu)
c.3023T>A (p.Val1008Glu)
c.2975T>A (p.Val992Glu)
c.2840T>A (p.Val947Glu)
c.2896-57T>A (n.2896-57T>A)
16g.28836066T>CCA395409240ATXN2Lc.3029T>C (p.Val1010Ala)
c.1004T>C (p.Val335Ala)
n.3403T>C
c.224T>C (p.Val75Ala)
c.3047T>C (p.Val1016Ala)
c.2093T>C (n.2093T>C)
c.298T>C
c.1007T>C (p.Val336Ala)
c.549T>C
c.3050T>C (p.Val1017Ala)
c.3032T>C (p.Val1011Ala)
c.2870T>C (p.Val957Ala)
c.2978T>C (p.Val993Ala)
c.2960T>C (p.Val987Ala)
c.2684T>C (p.Val895Ala)
n.3259T>C
c.2852T>C (p.Val951Ala)
c.2666T>C (p.Val889Ala)
n.3262T>C
c.2957T>C (p.Val986Ala)
c.3023T>C (p.Val1008Ala)
c.2975T>C (p.Val992Ala)
c.2840T>C (p.Val947Ala)
c.2896-57T>C (n.2896-57T>C)
16g.28836066T>GCA395409241ATXN2Lc.3029T>G (p.Val1010Gly)
c.1004T>G (p.Val335Gly)
n.3403T>G
c.224T>G (p.Val75Gly)
c.3047T>G (p.Val1016Gly)
c.2093T>G (n.2093T>G)
c.298T>G
c.1007T>G (p.Val336Gly)
c.549T>G
c.3050T>G (p.Val1017Gly)
c.3032T>G (p.Val1011Gly)
c.2870T>G (p.Val957Gly)
c.2978T>G (p.Val993Gly)
c.2960T>G (p.Val987Gly)
c.2684T>G (p.Val895Gly)
n.3259T>G
c.2852T>G (p.Val951Gly)
c.2666T>G (p.Val889Gly)
n.3262T>G
c.2957T>G (p.Val986Gly)
c.3023T>G (p.Val1008Gly)
c.2975T>G (p.Val992Gly)
c.2840T>G (p.Val947Gly)
c.2896-57T>G (n.2896-57T>G)
16g.28836067G>ACA279230914ATXN2Lc.3030G>A (p.Val1010=)
c.1005G>A (p.Val335=)
n.3404G>A
c.225G>A (p.Val75=)
c.3048G>A (p.Val1016=)
c.2094G>A (n.2094G>A)
c.299G>A
c.1008G>A (p.Val336=)
c.550G>A
c.3051G>A (p.Val1017=)
c.3033G>A (p.Val1011=)
c.2871G>A (p.Val957=)
c.2979G>A (p.Val993=)
c.2961G>A (p.Val987=)
c.2685G>A (p.Val895=)
n.3260G>A
c.2853G>A (p.Val951=)
c.2667G>A (p.Val889=)
n.3263G>A
c.2958G>A (p.Val986=)
c.3024G>A (p.Val1008=)
c.2976G>A (p.Val992=)
c.2841G>A (p.Val947=)
c.2896-56G>A (n.2896-56G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.28836067G>CCA494869339ATXN2Lc.3030G>C (p.Val1010=)
c.1005G>C (p.Val335=)
n.3404G>C
c.225G>C (p.Val75=)
c.3048G>C (p.Val1016=)
c.2094G>C (n.2094G>C)
c.299G>C
c.1008G>C (p.Val336=)
c.550G>C
c.3051G>C (p.Val1017=)
c.3033G>C (p.Val1011=)
c.2871G>C (p.Val957=)
c.2979G>C (p.Val993=)
c.2961G>C (p.Val987=)
c.2685G>C (p.Val895=)
n.3260G>C
c.2853G>C (p.Val951=)
c.2667G>C (p.Val889=)
n.3263G>C
c.2958G>C (p.Val986=)
c.3024G>C (p.Val1008=)
c.2976G>C (p.Val992=)
c.2841G>C (p.Val947=)
c.2896-56G>C (n.2896-56G>C)
16g.28836067G=CA2215806890ATXN2Lc.3030G= (p.Val1010=)
c.1005G= (p.Val335=)
n.3404G=
c.225G= (p.Val75=)
c.3048G= (p.Val1016=)
c.2094G= (n.2094G=)
c.299G=
c.1008G= (p.Val336=)
c.550G=
c.3051G= (p.Val1017=)
c.3033G= (p.Val1011=)
c.2871G= (p.Val957=)
c.2979G= (p.Val993=)
c.2961G= (p.Val987=)
c.2685G= (p.Val895=)
n.3260G=
c.2853G= (p.Val951=)
c.2667G= (p.Val889=)
n.3263G=
c.2958G= (p.Val986=)
c.3024G= (p.Val1008=)
c.2976G= (p.Val992=)
c.2841G= (p.Val947=)
c.2896-56G= (n.2896-56G=)
16g.28836067G>TCA494869341ATXN2Lc.3030G>T (p.Val1010=)
c.1005G>T (p.Val335=)
n.3404G>T
c.225G>T (p.Val75=)
c.3048G>T (p.Val1016=)
c.2094G>T (n.2094G>T)
c.299G>T
c.1008G>T (p.Val336=)
c.550G>T
c.3051G>T (p.Val1017=)
c.3033G>T (p.Val1011=)
c.2871G>T (p.Val957=)
c.2979G>T (p.Val993=)
c.2961G>T (p.Val987=)
c.2685G>T (p.Val895=)
n.3260G>T
c.2853G>T (p.Val951=)
c.2667G>T (p.Val889=)
n.3263G>T
c.2958G>T (p.Val986=)
c.3024G>T (p.Val1008=)
c.2976G>T (p.Val992=)
c.2841G>T (p.Val947=)
c.2896-56G>T (n.2896-56G>T)
 gnomAD v4
16g.28836068C>ACA7985163ATXN2Lc.3031C>A (p.Pro1011Thr)
c.1006C>A (p.Pro336Thr)
n.3405C>A
c.226C>A (p.Pro76Thr)
c.3049C>A (p.Pro1017Thr)
c.2095C>A (n.2095C>A)
c.300C>A
c.1009C>A (p.Pro337Thr)
c.551C>A
c.3052C>A (p.Pro1018Thr)
c.3034C>A (p.Pro1012Thr)
c.2872C>A (p.Pro958Thr)
c.2980C>A (p.Pro994Thr)
c.2962C>A (p.Pro988Thr)
c.2686C>A (p.Pro896Thr)
n.3261C>A
c.2854C>A (p.Pro952Thr)
c.2668C>A (p.Pro890Thr)
n.3264C>A
c.2959C>A (p.Pro987Thr)
c.3025C>A (p.Pro1009Thr)
c.2977C>A (p.Pro993Thr)
c.2842C>A (p.Pro948Thr)
c.2896-55C>A (n.2896-55C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836068C=CA2215806894ATXN2Lc.3031C= (p.Pro1011=)
c.1006C= (p.Pro336=)
n.3405C=
c.226C= (p.Pro76=)
c.3049C= (p.Pro1017=)
c.2095C= (n.2095C=)
c.300C=
c.1009C= (p.Pro337=)
c.551C=
c.3052C= (p.Pro1018=)
c.3034C= (p.Pro1012=)
c.2872C= (p.Pro958=)
c.2980C= (p.Pro994=)
c.2962C= (p.Pro988=)
c.2686C= (p.Pro896=)
n.3261C=
c.2854C= (p.Pro952=)
c.2668C= (p.Pro890=)
n.3264C=
c.2959C= (p.Pro987=)
c.3025C= (p.Pro1009=)
c.2977C= (p.Pro993=)
c.2842C= (p.Pro948=)
c.2896-55C= (n.2896-55C=)
16g.28836068C>GCA395409242ATXN2Lc.3031C>G (p.Pro1011Ala)
c.1006C>G (p.Pro336Ala)
n.3405C>G
c.226C>G (p.Pro76Ala)
c.3049C>G (p.Pro1017Ala)
c.2095C>G (n.2095C>G)
c.300C>G
c.1009C>G (p.Pro337Ala)
c.551C>G
c.3052C>G (p.Pro1018Ala)
c.3034C>G (p.Pro1012Ala)
c.2872C>G (p.Pro958Ala)
c.2980C>G (p.Pro994Ala)
c.2962C>G (p.Pro988Ala)
c.2686C>G (p.Pro896Ala)
n.3261C>G
c.2854C>G (p.Pro952Ala)
c.2668C>G (p.Pro890Ala)
n.3264C>G
c.2959C>G (p.Pro987Ala)
c.3025C>G (p.Pro1009Ala)
c.2977C>G (p.Pro993Ala)
c.2842C>G (p.Pro948Ala)
c.2896-55C>G (n.2896-55C>G)
16g.28836068C>TCA7985162ATXN2Lc.3031C>T (p.Pro1011Ser)
c.1006C>T (p.Pro336Ser)
n.3405C>T
c.226C>T (p.Pro76Ser)
c.3049C>T (p.Pro1017Ser)
c.2095C>T (n.2095C>T)
c.300C>T
c.1009C>T (p.Pro337Ser)
c.551C>T
c.3052C>T (p.Pro1018Ser)
c.3034C>T (p.Pro1012Ser)
c.2872C>T (p.Pro958Ser)
c.2980C>T (p.Pro994Ser)
c.2962C>T (p.Pro988Ser)
c.2686C>T (p.Pro896Ser)
n.3261C>T
c.2854C>T (p.Pro952Ser)
c.2668C>T (p.Pro890Ser)
n.3264C>T
c.2959C>T (p.Pro987Ser)
c.3025C>T (p.Pro1009Ser)
c.2977C>T (p.Pro993Ser)
c.2842C>T (p.Pro948Ser)
c.2896-55C>T (n.2896-55C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836069C>ACA395409244ATXN2Lc.3032C>A (p.Pro1011His)
c.1007C>A (p.Pro336His)
n.3406C>A
c.227C>A (p.Pro76His)
c.3050C>A (p.Pro1017His)
c.2096C>A (n.2096C>A)
c.301C>A
c.1010C>A (p.Pro337His)
c.552C>A
c.3053C>A (p.Pro1018His)
c.3035C>A (p.Pro1012His)
c.2873C>A (p.Pro958His)
c.2981C>A (p.Pro994His)
c.2963C>A (p.Pro988His)
c.2687C>A (p.Pro896His)
n.3262C>A
c.2855C>A (p.Pro952His)
c.2669C>A (p.Pro890His)
n.3265C>A
c.2960C>A (p.Pro987His)
c.3026C>A (p.Pro1009His)
c.2978C>A (p.Pro993His)
c.2843C>A (p.Pro948His)
c.2896-54C>A (n.2896-54C>A)
16g.28836069C=CA2215806896ATXN2Lc.3032C= (p.Pro1011=)
c.1007C= (p.Pro336=)
n.3406C=
c.227C= (p.Pro76=)
c.3050C= (p.Pro1017=)
c.2096C= (n.2096C=)
c.301C=
c.1010C= (p.Pro337=)
c.552C=
c.3053C= (p.Pro1018=)
c.3035C= (p.Pro1012=)
c.2873C= (p.Pro958=)
c.2981C= (p.Pro994=)
c.2963C= (p.Pro988=)
c.2687C= (p.Pro896=)
n.3262C=
c.2855C= (p.Pro952=)
c.2669C= (p.Pro890=)
n.3265C=
c.2960C= (p.Pro987=)
c.3026C= (p.Pro1009=)
c.2978C= (p.Pro993=)
c.2843C= (p.Pro948=)
c.2896-54C= (n.2896-54C=)
16g.28836069C>GCA7985164ATXN2Lc.3032C>G (p.Pro1011Arg)
c.1007C>G (p.Pro336Arg)
n.3406C>G
c.227C>G (p.Pro76Arg)
c.3050C>G (p.Pro1017Arg)
c.2096C>G (n.2096C>G)
c.301C>G
c.1010C>G (p.Pro337Arg)
c.552C>G
c.3053C>G (p.Pro1018Arg)
c.3035C>G (p.Pro1012Arg)
c.2873C>G (p.Pro958Arg)
c.2981C>G (p.Pro994Arg)
c.2963C>G (p.Pro988Arg)
c.2687C>G (p.Pro896Arg)
n.3262C>G
c.2855C>G (p.Pro952Arg)
c.2669C>G (p.Pro890Arg)
n.3265C>G
c.2960C>G (p.Pro987Arg)
c.3026C>G (p.Pro1009Arg)
c.2978C>G (p.Pro993Arg)
c.2843C>G (p.Pro948Arg)
c.2896-54C>G (n.2896-54C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836069C>TCA395409243ATXN2Lc.3032C>T (p.Pro1011Leu)
c.1007C>T (p.Pro336Leu)
n.3406C>T
c.227C>T (p.Pro76Leu)
c.3050C>T (p.Pro1017Leu)
c.2096C>T (n.2096C>T)
c.301C>T
c.1010C>T (p.Pro337Leu)
c.552C>T
c.3053C>T (p.Pro1018Leu)
c.3035C>T (p.Pro1012Leu)
c.2873C>T (p.Pro958Leu)
c.2981C>T (p.Pro994Leu)
c.2963C>T (p.Pro988Leu)
c.2687C>T (p.Pro896Leu)
n.3262C>T
c.2855C>T (p.Pro952Leu)
c.2669C>T (p.Pro890Leu)
n.3265C>T
c.2960C>T (p.Pro987Leu)
c.3026C>T (p.Pro1009Leu)
c.2978C>T (p.Pro993Leu)
c.2843C>T (p.Pro948Leu)
c.2896-54C>T (n.2896-54C>T)
 gnomAD v4
16g.28836070T>ACA494869354ATXN2Lc.3033T>A (p.Pro1011=)
c.1008T>A (p.Pro336=)
n.3407T>A
c.228T>A (p.Pro76=)
c.3051T>A (p.Pro1017=)
c.2097T>A (n.2097T>A)
c.302T>A
c.1011T>A (p.Pro337=)
c.553T>A
c.3054T>A (p.Pro1018=)
c.3036T>A (p.Pro1012=)
c.2874T>A (p.Pro958=)
c.2982T>A (p.Pro994=)
c.2964T>A (p.Pro988=)
c.2688T>A (p.Pro896=)
n.3263T>A
c.2856T>A (p.Pro952=)
c.2670T>A (p.Pro890=)
n.3266T>A
c.2961T>A (p.Pro987=)
c.3027T>A (p.Pro1009=)
c.2979T>A (p.Pro993=)
c.2844T>A (p.Pro948=)
c.2896-53T>A (n.2896-53T>A)
16g.28836070T>CCA494869357ATXN2Lc.3033T>C (p.Pro1011=)
c.1008T>C (p.Pro336=)
n.3407T>C
c.228T>C (p.Pro76=)
c.3051T>C (p.Pro1017=)
c.2097T>C (n.2097T>C)
c.302T>C
c.1011T>C (p.Pro337=)
c.553T>C
c.3054T>C (p.Pro1018=)
c.3036T>C (p.Pro1012=)
c.2874T>C (p.Pro958=)
c.2982T>C (p.Pro994=)
c.2964T>C (p.Pro988=)
c.2688T>C (p.Pro896=)
n.3263T>C
c.2856T>C (p.Pro952=)
c.2670T>C (p.Pro890=)
n.3266T>C
c.2961T>C (p.Pro987=)
c.3027T>C (p.Pro1009=)
c.2979T>C (p.Pro993=)
c.2844T>C (p.Pro948=)
c.2896-53T>C (n.2896-53T>C)
16g.28836070T>GCA494869358ATXN2Lc.3033T>G (p.Pro1011=)
c.1008T>G (p.Pro336=)
n.3407T>G
c.228T>G (p.Pro76=)
c.3051T>G (p.Pro1017=)
c.2097T>G (n.2097T>G)
c.302T>G
c.1011T>G (p.Pro337=)
c.553T>G
c.3054T>G (p.Pro1018=)
c.3036T>G (p.Pro1012=)
c.2874T>G (p.Pro958=)
c.2982T>G (p.Pro994=)
c.2964T>G (p.Pro988=)
c.2688T>G (p.Pro896=)
n.3263T>G
c.2856T>G (p.Pro952=)
c.2670T>G (p.Pro890=)
n.3266T>G
c.2961T>G (p.Pro987=)
c.3027T>G (p.Pro1009=)
c.2979T>G (p.Pro993=)
c.2844T>G (p.Pro948=)
c.2896-53T>G (n.2896-53T>G)
16g.28836071G>ACA7985165ATXN2Lc.3034G>A (p.Ala1012Thr)
c.1009G>A (p.Ala337Thr)
n.3408G>A
c.229G>A (p.Ala77Thr)
c.3052G>A (p.Ala1018Thr)
c.2098G>A (n.2098G>A)
c.303G>A
c.1012G>A (p.Ala338Thr)
c.554G>A
c.3055G>A (p.Ala1019Thr)
c.3037G>A (p.Ala1013Thr)
c.2875G>A (p.Ala959Thr)
c.2983G>A (p.Ala995Thr)
c.2965G>A (p.Ala989Thr)
c.2689G>A (p.Ala897Thr)
n.3264G>A
c.2857G>A (p.Ala953Thr)
c.2671G>A (p.Ala891Thr)
n.3267G>A
c.2962G>A (p.Ala988Thr)
c.3028G>A (p.Ala1010Thr)
c.2980G>A (p.Ala994Thr)
c.2845G>A (p.Ala949Thr)
c.2896-52G>A (n.2896-52G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836071G>CCA395409245ATXN2Lc.3034G>C (p.Ala1012Pro)
c.1009G>C (p.Ala337Pro)
n.3408G>C
c.229G>C (p.Ala77Pro)
c.3052G>C (p.Ala1018Pro)
c.2098G>C (n.2098G>C)
c.303G>C
c.1012G>C (p.Ala338Pro)
c.554G>C
c.3055G>C (p.Ala1019Pro)
c.3037G>C (p.Ala1013Pro)
c.2875G>C (p.Ala959Pro)
c.2983G>C (p.Ala995Pro)
c.2965G>C (p.Ala989Pro)
c.2689G>C (p.Ala897Pro)
n.3264G>C
c.2857G>C (p.Ala953Pro)
c.2671G>C (p.Ala891Pro)
n.3267G>C
c.2962G>C (p.Ala988Pro)
c.3028G>C (p.Ala1010Pro)
c.2980G>C (p.Ala994Pro)
c.2845G>C (p.Ala949Pro)
c.2896-52G>C (n.2896-52G>C)
16g.28836071G=CA2215806900ATXN2Lc.3034G= (p.Ala1012=)
c.1009G= (p.Ala337=)
n.3408G=
c.229G= (p.Ala77=)
c.3052G= (p.Ala1018=)
c.2098G= (n.2098G=)
c.303G=
c.1012G= (p.Ala338=)
c.554G=
c.3055G= (p.Ala1019=)
c.3037G= (p.Ala1013=)
c.2875G= (p.Ala959=)
c.2983G= (p.Ala995=)
c.2965G= (p.Ala989=)
c.2689G= (p.Ala897=)
n.3264G=
c.2857G= (p.Ala953=)
c.2671G= (p.Ala891=)
n.3267G=
c.2962G= (p.Ala988=)
c.3028G= (p.Ala1010=)
c.2980G= (p.Ala994=)
c.2845G= (p.Ala949=)
c.2896-52G= (n.2896-52G=)
16g.28836071G>TCA395409246ATXN2Lc.3034G>T (p.Ala1012Ser)
c.1009G>T (p.Ala337Ser)
n.3408G>T
c.229G>T (p.Ala77Ser)
c.3052G>T (p.Ala1018Ser)
c.2098G>T (n.2098G>T)
c.303G>T
c.1012G>T (p.Ala338Ser)
c.554G>T
c.3055G>T (p.Ala1019Ser)
c.3037G>T (p.Ala1013Ser)
c.2875G>T (p.Ala959Ser)
c.2983G>T (p.Ala995Ser)
c.2965G>T (p.Ala989Ser)
c.2689G>T (p.Ala897Ser)
n.3264G>T
c.2857G>T (p.Ala953Ser)
c.2671G>T (p.Ala891Ser)
n.3267G>T
c.2962G>T (p.Ala988Ser)
c.3028G>T (p.Ala1010Ser)
c.2980G>T (p.Ala994Ser)
c.2845G>T (p.Ala949Ser)
c.2896-52G>T (n.2896-52G>T)
16g.28836072C>ACA395409247ATXN2Lc.3035C>A (p.Ala1012Glu)
c.1010C>A (p.Ala337Glu)
n.3409C>A
c.230C>A (p.Ala77Glu)
c.3053C>A (p.Ala1018Glu)
c.2099C>A (n.2099C>A)
c.304C>A
c.1013C>A (p.Ala338Glu)
c.555C>A
c.3056C>A (p.Ala1019Glu)
c.3038C>A (p.Ala1013Glu)
c.2876C>A (p.Ala959Glu)
c.2984C>A (p.Ala995Glu)
c.2966C>A (p.Ala989Glu)
c.2690C>A (p.Ala897Glu)
n.3265C>A
c.2858C>A (p.Ala953Glu)
c.2672C>A (p.Ala891Glu)
n.3268C>A
c.2963C>A (p.Ala988Glu)
c.3029C>A (p.Ala1010Glu)
c.2981C>A (p.Ala994Glu)
c.2846C>A (p.Ala949Glu)
c.2896-51C>A (n.2896-51C>A)
16g.28836072C>GCA395409248ATXN2Lc.3035C>G (p.Ala1012Gly)
c.1010C>G (p.Ala337Gly)
n.3409C>G
c.230C>G (p.Ala77Gly)
c.3053C>G (p.Ala1018Gly)
c.2099C>G (n.2099C>G)
c.304C>G
c.1013C>G (p.Ala338Gly)
c.555C>G
c.3056C>G (p.Ala1019Gly)
c.3038C>G (p.Ala1013Gly)
c.2876C>G (p.Ala959Gly)
c.2984C>G (p.Ala995Gly)
c.2966C>G (p.Ala989Gly)
c.2690C>G (p.Ala897Gly)
n.3265C>G
c.2858C>G (p.Ala953Gly)
c.2672C>G (p.Ala891Gly)
n.3268C>G
c.2963C>G (p.Ala988Gly)
c.3029C>G (p.Ala1010Gly)
c.2981C>G (p.Ala994Gly)
c.2846C>G (p.Ala949Gly)
c.2896-51C>G (n.2896-51C>G)
16g.28836072C>TCA395409249ATXN2Lc.3035C>T (p.Ala1012Val)
c.1010C>T (p.Ala337Val)
n.3409C>T
c.230C>T (p.Ala77Val)
c.3053C>T (p.Ala1018Val)
c.2099C>T (n.2099C>T)
c.304C>T
c.1013C>T (p.Ala338Val)
c.555C>T
c.3056C>T (p.Ala1019Val)
c.3038C>T (p.Ala1013Val)
c.2876C>T (p.Ala959Val)
c.2984C>T (p.Ala995Val)
c.2966C>T (p.Ala989Val)
c.2690C>T (p.Ala897Val)
n.3265C>T
c.2858C>T (p.Ala953Val)
c.2672C>T (p.Ala891Val)
n.3268C>T
c.2963C>T (p.Ala988Val)
c.3029C>T (p.Ala1010Val)
c.2981C>T (p.Ala994Val)
c.2846C>T (p.Ala949Val)
c.2896-51C>T (n.2896-51C>T)
 gnomAD v4
16g.28836073A>CCA494869370ATXN2Lc.3036A>C (p.Ala1012=)
c.1011A>C (p.Ala337=)
n.3410A>C
c.231A>C (p.Ala77=)
c.3054A>C (p.Ala1018=)
c.2100A>C (n.2100A>C)
c.305A>C
c.1014A>C (p.Ala338=)
c.556A>C
c.3057A>C (p.Ala1019=)
c.3039A>C (p.Ala1013=)
c.2877A>C (p.Ala959=)
c.2985A>C (p.Ala995=)
c.2967A>C (p.Ala989=)
c.2691A>C (p.Ala897=)
n.3266A>C
c.2859A>C (p.Ala953=)
c.2673A>C (p.Ala891=)
n.3269A>C
c.2964A>C (p.Ala988=)
c.3030A>C (p.Ala1010=)
c.2982A>C (p.Ala994=)
c.2847A>C (p.Ala949=)
c.2896-50A>C (n.2896-50A>C)
16g.28836073A>GCA494869371ATXN2Lc.3036A>G (p.Ala1012=)
c.1011A>G (p.Ala337=)
n.3410A>G
c.231A>G (p.Ala77=)
c.3054A>G (p.Ala1018=)
c.2100A>G (n.2100A>G)
c.305A>G
c.1014A>G (p.Ala338=)
c.556A>G
c.3057A>G (p.Ala1019=)
c.3039A>G (p.Ala1013=)
c.2877A>G (p.Ala959=)
c.2985A>G (p.Ala995=)
c.2967A>G (p.Ala989=)
c.2691A>G (p.Ala897=)
n.3266A>G
c.2859A>G (p.Ala953=)
c.2673A>G (p.Ala891=)
n.3269A>G
c.2964A>G (p.Ala988=)
c.3030A>G (p.Ala1010=)
c.2982A>G (p.Ala994=)
c.2847A>G (p.Ala949=)
c.2896-50A>G (n.2896-50A>G)
 COSMIC COSMIC COSMIC COSMIC
16g.28836073A>TCA494869374ATXN2Lc.3036A>T (p.Ala1012=)
c.1011A>T (p.Ala337=)
n.3410A>T
c.231A>T (p.Ala77=)
c.3054A>T (p.Ala1018=)
c.2100A>T (n.2100A>T)
c.305A>T
c.1014A>T (p.Ala338=)
c.556A>T
c.3057A>T (p.Ala1019=)
c.3039A>T (p.Ala1013=)
c.2877A>T (p.Ala959=)
c.2985A>T (p.Ala995=)
c.2967A>T (p.Ala989=)
c.2691A>T (p.Ala897=)
n.3266A>T
c.2859A>T (p.Ala953=)
c.2673A>T (p.Ala891=)
n.3269A>T
c.2964A>T (p.Ala988=)
c.3030A>T (p.Ala1010=)
c.2982A>T (p.Ala994=)
c.2847A>T (p.Ala949=)
c.2896-50A>T (n.2896-50A>T)
16g.28836074C>ACA395409250ATXN2Lc.3037C>A (p.Leu1013Ile)
c.1012C>A (p.Leu338Ile)
n.3411C>A
c.232C>A (p.Leu78Ile)
c.3055C>A (p.Leu1019Ile)
c.2101C>A (n.2101C>A)
c.306C>A
c.1015C>A (p.Leu339Ile)
c.557C>A
c.3058C>A (p.Leu1020Ile)
c.3040C>A (p.Leu1014Ile)
c.2878C>A (p.Leu960Ile)
c.2986C>A (p.Leu996Ile)
c.2968C>A (p.Leu990Ile)
c.2692C>A (p.Leu898Ile)
n.3267C>A
c.2860C>A (p.Leu954Ile)
c.2674C>A (p.Leu892Ile)
n.3270C>A
c.2965C>A (p.Leu989Ile)
c.3031C>A (p.Leu1011Ile)
c.2983C>A (p.Leu995Ile)
c.2848C>A (p.Leu950Ile)
c.2896-49C>A (n.2896-49C>A)
16g.28836074C=CA2215806903ATXN2Lc.3037C= (p.Leu1013=)
c.1012C= (p.Leu338=)
n.3411C=
c.232C= (p.Leu78=)
c.3055C= (p.Leu1019=)
c.2101C= (n.2101C=)
c.306C=
c.1015C= (p.Leu339=)
c.557C=
c.3058C= (p.Leu1020=)
c.3040C= (p.Leu1014=)
c.2878C= (p.Leu960=)
c.2986C= (p.Leu996=)
c.2968C= (p.Leu990=)
c.2692C= (p.Leu898=)
n.3267C=
c.2860C= (p.Leu954=)
c.2674C= (p.Leu892=)
n.3270C=
c.2965C= (p.Leu989=)
c.3031C= (p.Leu1011=)
c.2983C= (p.Leu995=)
c.2848C= (p.Leu950=)
c.2896-49C= (n.2896-49C=)
16g.28836074C>GCA395409252ATXN2Lc.3037C>G (p.Leu1013Val)
c.1012C>G (p.Leu338Val)
n.3411C>G
c.232C>G (p.Leu78Val)
c.3055C>G (p.Leu1019Val)
c.2101C>G (n.2101C>G)
c.306C>G
c.1015C>G (p.Leu339Val)
c.557C>G
c.3058C>G (p.Leu1020Val)
c.3040C>G (p.Leu1014Val)
c.2878C>G (p.Leu960Val)
c.2986C>G (p.Leu996Val)
c.2968C>G (p.Leu990Val)
c.2692C>G (p.Leu898Val)
n.3267C>G
c.2860C>G (p.Leu954Val)
c.2674C>G (p.Leu892Val)
n.3270C>G
c.2965C>G (p.Leu989Val)
c.3031C>G (p.Leu1011Val)
c.2983C>G (p.Leu995Val)
c.2848C>G (p.Leu950Val)
c.2896-49C>G (n.2896-49C>G)
 dbSNP
16g.28836074C>TCA395409251ATXN2Lc.3037C>T (p.Leu1013Phe)
c.1012C>T (p.Leu338Phe)
n.3411C>T
c.232C>T (p.Leu78Phe)
c.3055C>T (p.Leu1019Phe)
c.2101C>T (n.2101C>T)
c.306C>T
c.1015C>T (p.Leu339Phe)
c.557C>T
c.3058C>T (p.Leu1020Phe)
c.3040C>T (p.Leu1014Phe)
c.2878C>T (p.Leu960Phe)
c.2986C>T (p.Leu996Phe)
c.2968C>T (p.Leu990Phe)
c.2692C>T (p.Leu898Phe)
n.3267C>T
c.2860C>T (p.Leu954Phe)
c.2674C>T (p.Leu892Phe)
n.3270C>T
c.2965C>T (p.Leu989Phe)
c.3031C>T (p.Leu1011Phe)
c.2983C>T (p.Leu995Phe)
c.2848C>T (p.Leu950Phe)
c.2896-49C>T (n.2896-49C>T)
16g.28836075T>ACA395409253ATXN2Lc.3038T>A (p.Leu1013His)
c.1013T>A (p.Leu338His)
n.3412T>A
c.233T>A (p.Leu78His)
c.3056T>A (p.Leu1019His)
c.2102T>A (n.2102T>A)
c.307T>A
c.1016T>A (p.Leu339His)
c.558T>A
c.3059T>A (p.Leu1020His)
c.3041T>A (p.Leu1014His)
c.2879T>A (p.Leu960His)
c.2987T>A (p.Leu996His)
c.2969T>A (p.Leu990His)
c.2693T>A (p.Leu898His)
n.3268T>A
c.2861T>A (p.Leu954His)
c.2675T>A (p.Leu892His)
n.3271T>A
c.2966T>A (p.Leu989His)
c.3032T>A (p.Leu1011His)
c.2984T>A (p.Leu995His)
c.2849T>A (p.Leu950His)
c.2896-48T>A (n.2896-48T>A)
 gnomAD v4
16g.28836075T>CCA395409254ATXN2Lc.3038T>C (p.Leu1013Pro)
c.1013T>C (p.Leu338Pro)
n.3412T>C
c.233T>C (p.Leu78Pro)
c.3056T>C (p.Leu1019Pro)
c.2102T>C (n.2102T>C)
c.307T>C
c.1016T>C (p.Leu339Pro)
c.558T>C
c.3059T>C (p.Leu1020Pro)
c.3041T>C (p.Leu1014Pro)
c.2879T>C (p.Leu960Pro)
c.2987T>C (p.Leu996Pro)
c.2969T>C (p.Leu990Pro)
c.2693T>C (p.Leu898Pro)
n.3268T>C
c.2861T>C (p.Leu954Pro)
c.2675T>C (p.Leu892Pro)
n.3271T>C
c.2966T>C (p.Leu989Pro)
c.3032T>C (p.Leu1011Pro)
c.2984T>C (p.Leu995Pro)
c.2849T>C (p.Leu950Pro)
c.2896-48T>C (n.2896-48T>C)
16g.28836075T>GCA395409255ATXN2Lc.3038T>G (p.Leu1013Arg)
c.1013T>G (p.Leu338Arg)
n.3412T>G
c.233T>G (p.Leu78Arg)
c.3056T>G (p.Leu1019Arg)
c.2102T>G (n.2102T>G)
c.307T>G
c.1016T>G (p.Leu339Arg)
c.558T>G
c.3059T>G (p.Leu1020Arg)
c.3041T>G (p.Leu1014Arg)
c.2879T>G (p.Leu960Arg)
c.2987T>G (p.Leu996Arg)
c.2969T>G (p.Leu990Arg)
c.2693T>G (p.Leu898Arg)
n.3268T>G
c.2861T>G (p.Leu954Arg)
c.2675T>G (p.Leu892Arg)
n.3271T>G
c.2966T>G (p.Leu989Arg)
c.3032T>G (p.Leu1011Arg)
c.2984T>G (p.Leu995Arg)
c.2849T>G (p.Leu950Arg)
c.2896-48T>G (n.2896-48T>G)
16g.28836076C>ACA494869380ATXN2Lc.3039C>A (p.Leu1013=)
c.1014C>A (p.Leu338=)
n.3413C>A
c.234C>A (p.Leu78=)
c.3057C>A (p.Leu1019=)
c.2103C>A (n.2103C>A)
c.308C>A
c.1017C>A (p.Leu339=)
c.559C>A
c.3060C>A (p.Leu1020=)
c.3042C>A (p.Leu1014=)
c.2880C>A (p.Leu960=)
c.2988C>A (p.Leu996=)
c.2970C>A (p.Leu990=)
c.2694C>A (p.Leu898=)
n.3269C>A
c.2862C>A (p.Leu954=)
c.2676C>A (p.Leu892=)
n.3272C>A
c.2967C>A (p.Leu989=)
c.3033C>A (p.Leu1011=)
c.2985C>A (p.Leu995=)
c.2850C>A (p.Leu950=)
c.2896-47C>A (n.2896-47C>A)
16g.28836076C=CA2215806907ATXN2Lc.3039C= (p.Leu1013=)
c.1014C= (p.Leu338=)
n.3413C=
c.234C= (p.Leu78=)
c.3057C= (p.Leu1019=)
c.2103C= (n.2103C=)
c.308C=
c.1017C= (p.Leu339=)
c.559C=
c.3060C= (p.Leu1020=)
c.3042C= (p.Leu1014=)
c.2880C= (p.Leu960=)
c.2988C= (p.Leu996=)
c.2970C= (p.Leu990=)
c.2694C= (p.Leu898=)
n.3269C=
c.2862C= (p.Leu954=)
c.2676C= (p.Leu892=)
n.3272C=
c.2967C= (p.Leu989=)
c.3033C= (p.Leu1011=)
c.2985C= (p.Leu995=)
c.2850C= (p.Leu950=)
c.2896-47C= (n.2896-47C=)
16g.28836076C>GCA494869382ATXN2Lc.3039C>G (p.Leu1013=)
c.1014C>G (p.Leu338=)
n.3413C>G
c.234C>G (p.Leu78=)
c.3057C>G (p.Leu1019=)
c.2103C>G (n.2103C>G)
c.308C>G
c.1017C>G (p.Leu339=)
c.559C>G
c.3060C>G (p.Leu1020=)
c.3042C>G (p.Leu1014=)
c.2880C>G (p.Leu960=)
c.2988C>G (p.Leu996=)
c.2970C>G (p.Leu990=)
c.2694C>G (p.Leu898=)
n.3269C>G
c.2862C>G (p.Leu954=)
c.2676C>G (p.Leu892=)
n.3272C>G
c.2967C>G (p.Leu989=)
c.3033C>G (p.Leu1011=)
c.2985C>G (p.Leu995=)
c.2850C>G (p.Leu950=)
c.2896-47C>G (n.2896-47C>G)
 gnomAD v4 COSMIC COSMIC
16g.28836076C>TCA7985166ATXN2Lc.3039C>T (p.Leu1013=)
c.1014C>T (p.Leu338=)
n.3413C>T
c.234C>T (p.Leu78=)
c.3057C>T (p.Leu1019=)
c.2103C>T (n.2103C>T)
c.308C>T
c.1017C>T (p.Leu339=)
c.559C>T
c.3060C>T (p.Leu1020=)
c.3042C>T (p.Leu1014=)
c.2880C>T (p.Leu960=)
c.2988C>T (p.Leu996=)
c.2970C>T (p.Leu990=)
c.2694C>T (p.Leu898=)
n.3269C>T
c.2862C>T (p.Leu954=)
c.2676C>T (p.Leu892=)
n.3272C>T
c.2967C>T (p.Leu989=)
c.3033C>T (p.Leu1011=)
c.2985C>T (p.Leu995=)
c.2850C>T (p.Leu950=)
c.2896-47C>T (n.2896-47C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28836077T>ACA395409258ATXN2Lc.3040T>A (p.Ser1014Thr)
c.1015T>A (p.Ser339Thr)
n.3414T>A
c.235T>A (p.Ser79Thr)
c.3058T>A (p.Ser1020Thr)
c.2104T>A (n.2104T>A)
c.309T>A
c.1018T>A (p.Ser340Thr)
c.3061T>A (p.Ser1021Thr)
c.3043T>A (p.Ser1015Thr)
c.2881T>A (p.Ser961Thr)
c.2989T>A (p.Ser997Thr)
c.2971T>A (p.Ser991Thr)
c.2695T>A (p.Ser899Thr)
n.3270T>A
c.2863T>A (p.Ser955Thr)
c.2677T>A (p.Ser893Thr)
n.3273T>A
c.2968T>A (p.Ser990Thr)
c.3034T>A (p.Ser1012Thr)
c.2986T>A (p.Ser996Thr)
c.2851T>A (p.Ser951Thr)
c.2896-46T>A (n.2896-46T>A)
16g.28836077T>CCA395409257ATXN2Lc.3040T>C (p.Ser1014Pro)
c.1015T>C (p.Ser339Pro)
n.3414T>C
c.235T>C (p.Ser79Pro)
c.3058T>C (p.Ser1020Pro)
c.2104T>C (n.2104T>C)
c.309T>C
c.1018T>C (p.Ser340Pro)
c.3061T>C (p.Ser1021Pro)
c.3043T>C (p.Ser1015Pro)
c.2881T>C (p.Ser961Pro)
c.2989T>C (p.Ser997Pro)
c.2971T>C (p.Ser991Pro)
c.2695T>C (p.Ser899Pro)
n.3270T>C
c.2863T>C (p.Ser955Pro)
c.2677T>C (p.Ser893Pro)
n.3273T>C
c.2968T>C (p.Ser990Pro)
c.3034T>C (p.Ser1012Pro)
c.2986T>C (p.Ser996Pro)
c.2851T>C (p.Ser951Pro)
c.2896-46T>C (n.2896-46T>C)
16g.28836077T>GCA395409256ATXN2Lc.3040T>G (p.Ser1014Ala)
c.1015T>G (p.Ser339Ala)
n.3414T>G
c.235T>G (p.Ser79Ala)
c.3058T>G (p.Ser1020Ala)
c.2104T>G (n.2104T>G)
c.309T>G
c.1018T>G (p.Ser340Ala)
c.3061T>G (p.Ser1021Ala)
c.3043T>G (p.Ser1015Ala)
c.2881T>G (p.Ser961Ala)
c.2989T>G (p.Ser997Ala)
c.2971T>G (p.Ser991Ala)
c.2695T>G (p.Ser899Ala)
n.3270T>G
c.2863T>G (p.Ser955Ala)
c.2677T>G (p.Ser893Ala)
n.3273T>G
c.2968T>G (p.Ser990Ala)
c.3034T>G (p.Ser1012Ala)
c.2986T>G (p.Ser996Ala)
c.2851T>G (p.Ser951Ala)
c.2896-46T>G (n.2896-46T>G)
16g.28836078C>ACA395409259ATXN2Lc.3041C>A (p.Ser1014Ter)
c.1016C>A (p.Ser339Ter)
n.3415C>A
c.236C>A (p.Ser79Ter)
c.3059C>A (p.Ser1020Ter)
c.2105C>A (n.2105C>A)
c.310C>A
c.1019C>A (p.Ser340Ter)
c.3062C>A (p.Ser1021Ter)
c.3044C>A (p.Ser1015Ter)
c.2882C>A (p.Ser961Ter)
c.2990C>A (p.Ser997Ter)
c.2972C>A (p.Ser991Ter)
c.2696C>A (p.Ser899Ter)
n.3271C>A
c.2864C>A (p.Ser955Ter)
c.2678C>A (p.Ser893Ter)
n.3274C>A
c.2969C>A (p.Ser990Ter)
c.3035C>A (p.Ser1012Ter)
c.2987C>A (p.Ser996Ter)
c.2852C>A (p.Ser951Ter)
c.2896-45C>A (n.2896-45C>A)
16g.28836078C=CA2215806910ATXN2Lc.3041C= (p.Ser1014=)
c.1016C= (p.Ser339=)
n.3415C=
c.236C= (p.Ser79=)
c.3059C= (p.Ser1020=)
c.2105C= (n.2105C=)
c.310C=
c.1019C= (p.Ser340=)
c.3062C= (p.Ser1021=)
c.3044C= (p.Ser1015=)
c.2882C= (p.Ser961=)
c.2990C= (p.Ser997=)
c.2972C= (p.Ser991=)
c.2696C= (p.Ser899=)
n.3271C=
c.2864C= (p.Ser955=)
c.2678C= (p.Ser893=)
n.3274C=
c.2969C= (p.Ser990=)
c.3035C= (p.Ser1012=)
c.2987C= (p.Ser996=)
c.2852C= (p.Ser951=)
c.2896-45C= (n.2896-45C=)
16g.28836078C>GCA395409261ATXN2Lc.3041C>G (p.Ser1014Ter)
c.1016C>G (p.Ser339Ter)
n.3415C>G
c.236C>G (p.Ser79Ter)
c.3059C>G (p.Ser1020Ter)
c.2105C>G (n.2105C>G)
c.310C>G
c.1019C>G (p.Ser340Ter)
c.3062C>G (p.Ser1021Ter)
c.3044C>G (p.Ser1015Ter)
c.2882C>G (p.Ser961Ter)
c.2990C>G (p.Ser997Ter)
c.2972C>G (p.Ser991Ter)
c.2696C>G (p.Ser899Ter)
n.3271C>G
c.2864C>G (p.Ser955Ter)
c.2678C>G (p.Ser893Ter)
n.3274C>G
c.2969C>G (p.Ser990Ter)
c.3035C>G (p.Ser1012Ter)
c.2987C>G (p.Ser996Ter)
c.2852C>G (p.Ser951Ter)
c.2896-45C>G (n.2896-45C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28836078C>TCA395409260ATXN2Lc.3041C>T (p.Ser1014Leu)
c.1016C>T (p.Ser339Leu)
n.3415C>T
c.236C>T (p.Ser79Leu)
c.3059C>T (p.Ser1020Leu)
c.2105C>T (n.2105C>T)
c.310C>T
c.1019C>T (p.Ser340Leu)
c.3062C>T (p.Ser1021Leu)
c.3044C>T (p.Ser1015Leu)
c.2882C>T (p.Ser961Leu)
c.2990C>T (p.Ser997Leu)
c.2972C>T (p.Ser991Leu)
c.2696C>T (p.Ser899Leu)
n.3271C>T
c.2864C>T (p.Ser955Leu)
c.2678C>T (p.Ser893Leu)
n.3274C>T
c.2969C>T (p.Ser990Leu)
c.3035C>T (p.Ser1012Leu)
c.2987C>T (p.Ser996Leu)
c.2852C>T (p.Ser951Leu)
c.2896-45C>T (n.2896-45C>T)
 gnomAD v4
16g.28836079A>CCA494869394ATXN2Lc.3042A>C (p.Ser1014=)
c.1017A>C (p.Ser339=)
n.3416A>C
c.237A>C (p.Ser79=)
c.3060A>C (p.Ser1020=)
c.2106A>C (n.2106A>C)
c.311A>C
c.1020A>C (p.Ser340=)
c.3063A>C (p.Ser1021=)
c.3045A>C (p.Ser1015=)
c.2883A>C (p.Ser961=)
c.2991A>C (p.Ser997=)
c.2973A>C (p.Ser991=)
c.2697A>C (p.Ser899=)
n.3272A>C
c.2865A>C (p.Ser955=)
c.2679A>C (p.Ser893=)
n.3275A>C
c.2970A>C (p.Ser990=)
c.3036A>C (p.Ser1012=)
c.2988A>C (p.Ser996=)
c.2853A>C (p.Ser951=)
c.2896-44A>C (n.2896-44A>C)
16g.28836079A>GCA494869395ATXN2Lc.3042A>G (p.Ser1014=)
c.1017A>G (p.Ser339=)
n.3416A>G
c.237A>G (p.Ser79=)
c.3060A>G (p.Ser1020=)
c.2106A>G (n.2106A>G)
c.311A>G
c.1020A>G (p.Ser340=)
c.3063A>G (p.Ser1021=)
c.3045A>G (p.Ser1015=)
c.2883A>G (p.Ser961=)
c.2991A>G (p.Ser997=)
c.2973A>G (p.Ser991=)
c.2697A>G (p.Ser899=)
n.3272A>G
c.2865A>G (p.Ser955=)
c.2679A>G (p.Ser893=)
n.3275A>G
c.2970A>G (p.Ser990=)
c.3036A>G (p.Ser1012=)
c.2988A>G (p.Ser996=)
c.2853A>G (p.Ser951=)
c.2896-44A>G (n.2896-44A>G)
16g.28836079A>TCA494869398ATXN2Lc.3042A>T (p.Ser1014=)
c.1017A>T (p.Ser339=)
n.3416A>T
c.237A>T (p.Ser79=)
c.3060A>T (p.Ser1020=)
c.2106A>T (n.2106A>T)
c.311A>T
c.1020A>T (p.Ser340=)
c.3063A>T (p.Ser1021=)
c.3045A>T (p.Ser1015=)
c.2883A>T (p.Ser961=)
c.2991A>T (p.Ser997=)
c.2973A>T (p.Ser991=)
c.2697A>T (p.Ser899=)
n.3272A>T
c.2865A>T (p.Ser955=)
c.2679A>T (p.Ser893=)
n.3275A>T
c.2970A>T (p.Ser990=)
c.3036A>T (p.Ser1012=)
c.2988A>T (p.Ser996=)
c.2853A>T (p.Ser951=)
c.2896-44A>T (n.2896-44A>T)
16g.28836080G>ACA395409262ATXN2Lc.3043G>A (p.Ala1015Thr)
c.1018G>A (p.Ala340Thr)
n.3417G>A
c.238G>A (p.Ala80Thr)
c.3061G>A (p.Ala1021Thr)
c.2107G>A (n.2107G>A)
c.312G>A
c.1021G>A (p.Ala341Thr)
c.3064G>A (p.Ala1022Thr)
c.3046G>A (p.Ala1016Thr)
c.2884G>A (p.Ala962Thr)
c.2992G>A (p.Ala998Thr)
c.2974G>A (p.Ala992Thr)
c.2698G>A (p.Ala900Thr)
n.3273G>A
c.2866G>A (p.Ala956Thr)
c.2680G>A (p.Ala894Thr)
n.3276G>A
c.2971G>A (p.Ala991Thr)
c.3037G>A (p.Ala1013Thr)
c.2989G>A (p.Ala997Thr)
c.2854G>A (p.Ala952Thr)
c.2896-43G>A (n.2896-43G>A)
 gnomAD v4
16g.28836080G>CCA395409263ATXN2Lc.3043G>C (p.Ala1015Pro)
c.1018G>C (p.Ala340Pro)
n.3417G>C
c.238G>C (p.Ala80Pro)
c.3061G>C (p.Ala1021Pro)
c.2107G>C (n.2107G>C)
c.312G>C
c.1021G>C (p.Ala341Pro)
c.3064G>C (p.Ala1022Pro)
c.3046G>C (p.Ala1016Pro)
c.2884G>C (p.Ala962Pro)
c.2992G>C (p.Ala998Pro)
c.2974G>C (p.Ala992Pro)
c.2698G>C (p.Ala900Pro)
n.3273G>C
c.2866G>C (p.Ala956Pro)
c.2680G>C (p.Ala894Pro)
n.3276G>C
c.2971G>C (p.Ala991Pro)
c.3037G>C (p.Ala1013Pro)
c.2989G>C (p.Ala997Pro)
c.2854G>C (p.Ala952Pro)
c.2896-43G>C (n.2896-43G>C)
16g.28836080G>TCA395409264ATXN2Lc.3043G>T (p.Ala1015Ser)
c.1018G>T (p.Ala340Ser)
n.3417G>T
c.238G>T (p.Ala80Ser)
c.3061G>T (p.Ala1021Ser)
c.2107G>T (n.2107G>T)
c.312G>T
c.1021G>T (p.Ala341Ser)
c.3064G>T (p.Ala1022Ser)
c.3046G>T (p.Ala1016Ser)
c.2884G>T (p.Ala962Ser)
c.2992G>T (p.Ala998Ser)
c.2974G>T (p.Ala992Ser)
c.2698G>T (p.Ala900Ser)
n.3273G>T
c.2866G>T (p.Ala956Ser)
c.2680G>T (p.Ala894Ser)
n.3276G>T
c.2971G>T (p.Ala991Ser)
c.3037G>T (p.Ala1013Ser)
c.2989G>T (p.Ala997Ser)
c.2854G>T (p.Ala952Ser)
c.2896-43G>T (n.2896-43G>T)
16g.28836081C>ACA395409265ATXN2Lc.3044C>A (p.Ala1015Asp)
c.1019C>A (p.Ala340Asp)
n.3418C>A
c.239C>A (p.Ala80Asp)
c.3062C>A (p.Ala1021Asp)
c.2108C>A (n.2108C>A)
c.313C>A
c.1022C>A (p.Ala341Asp)
c.3065C>A (p.Ala1022Asp)
c.3047C>A (p.Ala1016Asp)
c.2885C>A (p.Ala962Asp)
c.2993C>A (p.Ala998Asp)
c.2975C>A (p.Ala992Asp)
c.2699C>A (p.Ala900Asp)
n.3274C>A
c.2867C>A (p.Ala956Asp)
c.2681C>A (p.Ala894Asp)
n.3277C>A
c.2972C>A (p.Ala991Asp)
c.3038C>A (p.Ala1013Asp)
c.2990C>A (p.Ala997Asp)
c.2855C>A (p.Ala952Asp)
c.2896-42C>A (n.2896-42C>A)
16g.28836081C=CA2215806913ATXN2Lc.3044C= (p.Ala1015=)
c.1019C= (p.Ala340=)
n.3418C=
c.239C= (p.Ala80=)
c.3062C= (p.Ala1021=)
c.2108C= (n.2108C=)
c.313C=
c.1022C= (p.Ala341=)
c.3065C= (p.Ala1022=)
c.3047C= (p.Ala1016=)
c.2885C= (p.Ala962=)
c.2993C= (p.Ala998=)
c.2975C= (p.Ala992=)
c.2699C= (p.Ala900=)
n.3274C=
c.2867C= (p.Ala956=)
c.2681C= (p.Ala894=)
n.3277C=
c.2972C= (p.Ala991=)
c.3038C= (p.Ala1013=)
c.2990C= (p.Ala997=)
c.2855C= (p.Ala952=)
c.2896-42C= (n.2896-42C=)
16g.28836081C>GCA395409266ATXN2Lc.3044C>G (p.Ala1015Gly)
c.1019C>G (p.Ala340Gly)
n.3418C>G
c.239C>G (p.Ala80Gly)
c.3062C>G (p.Ala1021Gly)
c.2108C>G (n.2108C>G)
c.313C>G
c.1022C>G (p.Ala341Gly)
c.3065C>G (p.Ala1022Gly)
c.3047C>G (p.Ala1016Gly)
c.2885C>G (p.Ala962Gly)
c.2993C>G (p.Ala998Gly)
c.2975C>G (p.Ala992Gly)
c.2699C>G (p.Ala900Gly)
n.3274C>G
c.2867C>G (p.Ala956Gly)
c.2681C>G (p.Ala894Gly)
n.3277C>G
c.2972C>G (p.Ala991Gly)
c.3038C>G (p.Ala1013Gly)
c.2990C>G (p.Ala997Gly)
c.2855C>G (p.Ala952Gly)
c.2896-42C>G (n.2896-42C>G)
16g.28836081C>TCA7985167ATXN2Lc.3044C>T (p.Ala1015Val)
c.1019C>T (p.Ala340Val)
n.3418C>T
c.239C>T (p.Ala80Val)
c.3062C>T (p.Ala1021Val)
c.2108C>T (n.2108C>T)
c.313C>T
c.1022C>T (p.Ala341Val)
c.3065C>T (p.Ala1022Val)
c.3047C>T (p.Ala1016Val)
c.2885C>T (p.Ala962Val)
c.2993C>T (p.Ala998Val)
c.2975C>T (p.Ala992Val)
c.2699C>T (p.Ala900Val)
n.3274C>T
c.2867C>T (p.Ala956Val)
c.2681C>T (p.Ala894Val)
n.3277C>T
c.2972C>T (p.Ala991Val)
c.3038C>T (p.Ala1013Val)
c.2990C>T (p.Ala997Val)
c.2855C>T (p.Ala952Val)
c.2896-42C>T (n.2896-42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28836082T>ACA494869411ATXN2Lc.3045T>A (p.Ala1015=)
c.1020T>A (p.Ala340=)
n.3419T>A
c.240T>A (p.Ala80=)
c.3063T>A (p.Ala1021=)
c.2109T>A (n.2109T>A)
c.314T>A
c.1023T>A (p.Ala341=)
c.3066T>A (p.Ala1022=)
c.3048T>A (p.Ala1016=)
c.2886T>A (p.Ala962=)
c.2994T>A (p.Ala998=)
c.2976T>A (p.Ala992=)
c.2700T>A (p.Ala900=)
n.3275T>A
c.2868T>A (p.Ala956=)
c.2682T>A (p.Ala894=)
n.3278T>A
c.2973T>A (p.Ala991=)
c.3039T>A (p.Ala1013=)
c.2991T>A (p.Ala997=)
c.2856T>A (p.Ala952=)
c.2896-41T>A (n.2896-41T>A)
16g.28836082T>CCA494869407ATXN2Lc.3045T>C (p.Ala1015=)
c.1020T>C (p.Ala340=)
n.3419T>C
c.240T>C (p.Ala80=)
c.3063T>C (p.Ala1021=)
c.2109T>C (n.2109T>C)
c.314T>C
c.1023T>C (p.Ala341=)
c.3066T>C (p.Ala1022=)
c.3048T>C (p.Ala1016=)
c.2886T>C (p.Ala962=)
c.2994T>C (p.Ala998=)
c.2976T>C (p.Ala992=)
c.2700T>C (p.Ala900=)
n.3275T>C
c.2868T>C (p.Ala956=)
c.2682T>C (p.Ala894=)
n.3278T>C
c.2973T>C (p.Ala991=)
c.3039T>C (p.Ala1013=)
c.2991T>C (p.Ala997=)
c.2856T>C (p.Ala952=)
c.2896-41T>C (n.2896-41T>C)
16g.28836082T>GCA494869406ATXN2Lc.3045T>G (p.Ala1015=)
c.1020T>G (p.Ala340=)
n.3419T>G
c.240T>G (p.Ala80=)
c.3063T>G (p.Ala1021=)
c.2109T>G (n.2109T>G)
c.314T>G
c.1023T>G (p.Ala341=)
c.3066T>G (p.Ala1022=)
c.3048T>G (p.Ala1016=)
c.2886T>G (p.Ala962=)
c.2994T>G (p.Ala998=)
c.2976T>G (p.Ala992=)
c.2700T>G (p.Ala900=)
n.3275T>G
c.2868T>G (p.Ala956=)
c.2682T>G (p.Ala894=)
n.3278T>G
c.2973T>G (p.Ala991=)
c.3039T>G (p.Ala1013=)
c.2991T>G (p.Ala997=)
c.2856T>G (p.Ala952=)
c.2896-41T>G (n.2896-41T>G)
16g.28836083T>ACA395409269ATXN2Lc.3046T>A (p.Ser1016Thr)
c.1021T>A (p.Ser341Thr)
n.3420T>A
c.241T>A (p.Ser81Thr)
c.3064T>A (p.Ser1022Thr)
c.2110T>A (n.2110T>A)
c.315T>A
c.1024T>A (p.Ser342Thr)
c.3067T>A (p.Ser1023Thr)
c.3049T>A (p.Ser1017Thr)
c.2887T>A (p.Ser963Thr)
c.2995T>A (p.Ser999Thr)
c.2977T>A (p.Ser993Thr)
c.2701T>A (p.Ser901Thr)
n.3276T>A
c.2869T>A (p.Ser957Thr)
c.2683T>A (p.Ser895Thr)
n.3279T>A
c.2974T>A (p.Ser992Thr)
c.3040T>A (p.Ser1014Thr)
c.2992T>A (p.Ser998Thr)
c.2857T>A (p.Ser953Thr)
c.2896-40T>A (n.2896-40T>A)
16g.28836083T>CCA395409268ATXN2Lc.3046T>C (p.Ser1016Pro)
c.1021T>C (p.Ser341Pro)
n.3420T>C
c.241T>C (p.Ser81Pro)
c.3064T>C (p.Ser1022Pro)
c.2110T>C (n.2110T>C)
c.315T>C
c.1024T>C (p.Ser342Pro)
c.3067T>C (p.Ser1023Pro)
c.3049T>C (p.Ser1017Pro)
c.2887T>C (p.Ser963Pro)
c.2995T>C (p.Ser999Pro)
c.2977T>C (p.Ser993Pro)
c.2701T>C (p.Ser901Pro)
n.3276T>C
c.2869T>C (p.Ser957Pro)
c.2683T>C (p.Ser895Pro)
n.3279T>C
c.2974T>C (p.Ser992Pro)
c.3040T>C (p.Ser1014Pro)
c.2992T>C (p.Ser998Pro)
c.2857T>C (p.Ser953Pro)
c.2896-40T>C (n.2896-40T>C)
16g.28836083T>GCA395409267ATXN2Lc.3046T>G (p.Ser1016Ala)
c.1021T>G (p.Ser341Ala)
n.3420T>G
c.241T>G (p.Ser81Ala)
c.3064T>G (p.Ser1022Ala)
c.2110T>G (n.2110T>G)
c.315T>G
c.1024T>G (p.Ser342Ala)
c.3067T>G (p.Ser1023Ala)
c.3049T>G (p.Ser1017Ala)
c.2887T>G (p.Ser963Ala)
c.2995T>G (p.Ser999Ala)
c.2977T>G (p.Ser993Ala)
c.2701T>G (p.Ser901Ala)
n.3276T>G
c.2869T>G (p.Ser957Ala)
c.2683T>G (p.Ser895Ala)
n.3279T>G
c.2974T>G (p.Ser992Ala)
c.3040T>G (p.Ser1014Ala)
c.2992T>G (p.Ser998Ala)
c.2857T>G (p.Ser953Ala)
c.2896-40T>G (n.2896-40T>G)
16g.28836084C>ACA395409270ATXN2Lc.3047C>A (p.Ser1016Tyr)
c.1022C>A (p.Ser341Tyr)
n.3421C>A
c.242C>A (p.Ser81Tyr)
c.3065C>A (p.Ser1022Tyr)
c.2111C>A (n.2111C>A)
c.316C>A
c.1025C>A (p.Ser342Tyr)
c.3068C>A (p.Ser1023Tyr)
c.3050C>A (p.Ser1017Tyr)
c.2888C>A (p.Ser963Tyr)
c.2996C>A (p.Ser999Tyr)
c.2978C>A (p.Ser993Tyr)
c.2702C>A (p.Ser901Tyr)
n.3277C>A
c.2870C>A (p.Ser957Tyr)
c.2684C>A (p.Ser895Tyr)
n.3280C>A
c.2975C>A (p.Ser992Tyr)
c.3041C>A (p.Ser1014Tyr)
c.2993C>A (p.Ser998Tyr)
c.2858C>A (p.Ser953Tyr)
c.2896-39C>A (n.2896-39C>A)
16g.28836084C=CA2215806916ATXN2Lc.3047C= (p.Ser1016=)
c.1022C= (p.Ser341=)
n.3421C=
c.242C= (p.Ser81=)
c.3065C= (p.Ser1022=)
c.2111C= (n.2111C=)
c.316C=
c.1025C= (p.Ser342=)
c.3068C= (p.Ser1023=)
c.3050C= (p.Ser1017=)
c.2888C= (p.Ser963=)
c.2996C= (p.Ser999=)
c.2978C= (p.Ser993=)
c.2702C= (p.Ser901=)
n.3277C=
c.2870C= (p.Ser957=)
c.2684C= (p.Ser895=)
n.3280C=
c.2975C= (p.Ser992=)
c.3041C= (p.Ser1014=)
c.2993C= (p.Ser998=)
c.2858C= (p.Ser953=)
c.2896-39C= (n.2896-39C=)
16g.28836084C>GCA395409271ATXN2Lc.3047C>G (p.Ser1016Cys)
c.1022C>G (p.Ser341Cys)
n.3421C>G
c.242C>G (p.Ser81Cys)
c.3065C>G (p.Ser1022Cys)
c.2111C>G (n.2111C>G)
c.316C>G
c.1025C>G (p.Ser342Cys)
c.3068C>G (p.Ser1023Cys)
c.3050C>G (p.Ser1017Cys)
c.2888C>G (p.Ser963Cys)
c.2996C>G (p.Ser999Cys)
c.2978C>G (p.Ser993Cys)
c.2702C>G (p.Ser901Cys)
n.3277C>G
c.2870C>G (p.Ser957Cys)
c.2684C>G (p.Ser895Cys)
n.3280C>G
c.2975C>G (p.Ser992Cys)
c.3041C>G (p.Ser1014Cys)
c.2993C>G (p.Ser998Cys)
c.2858C>G (p.Ser953Cys)
c.2896-39C>G (n.2896-39C>G)
16g.28836084C>TCA279230922ATXN2Lc.3047C>T (p.Ser1016Phe)
c.1022C>T (p.Ser341Phe)
n.3421C>T
c.242C>T (p.Ser81Phe)
c.3065C>T (p.Ser1022Phe)
c.2111C>T (n.2111C>T)
c.316C>T
c.1025C>T (p.Ser342Phe)
c.3068C>T (p.Ser1023Phe)
c.3050C>T (p.Ser1017Phe)
c.2888C>T (p.Ser963Phe)
c.2996C>T (p.Ser999Phe)
c.2978C>T (p.Ser993Phe)
c.2702C>T (p.Ser901Phe)
n.3277C>T
c.2870C>T (p.Ser957Phe)
c.2684C>T (p.Ser895Phe)
n.3280C>T
c.2975C>T (p.Ser992Phe)
c.3041C>T (p.Ser1014Phe)
c.2993C>T (p.Ser998Phe)
c.2858C>T (p.Ser953Phe)
c.2896-39C>T (n.2896-39C>T)
 dbSNP
16g.28836085C>ACA494869427ATXN2Lc.3048C>A (p.Ser1016=)
c.1023C>A (p.Ser341=)
n.3422C>A
c.243C>A (p.Ser81=)
c.3066C>A (p.Ser1022=)
c.2112C>A (n.2112C>A)
c.317C>A
c.1026C>A (p.Ser342=)
c.3069C>A (p.Ser1023=)
c.3051C>A (p.Ser1017=)
c.2889C>A (p.Ser963=)
c.2997C>A (p.Ser999=)
c.2979C>A (p.Ser993=)
c.2703C>A (p.Ser901=)
n.3278C>A
c.2871C>A (p.Ser957=)
c.2685C>A (p.Ser895=)
n.3281C>A
c.2976C>A (p.Ser992=)
c.3042C>A (p.Ser1014=)
c.2994C>A (p.Ser998=)
c.2859C>A (p.Ser953=)
c.2896-38C>A (n.2896-38C>A)
16g.28836085C>GCA494869426ATXN2Lc.3048C>G (p.Ser1016=)
c.1023C>G (p.Ser341=)
n.3422C>G
c.243C>G (p.Ser81=)
c.3066C>G (p.Ser1022=)
c.2112C>G (n.2112C>G)
c.317C>G
c.1026C>G (p.Ser342=)
c.3069C>G (p.Ser1023=)
c.3051C>G (p.Ser1017=)
c.2889C>G (p.Ser963=)
c.2997C>G (p.Ser999=)
c.2979C>G (p.Ser993=)
c.2703C>G (p.Ser901=)
n.3278C>G
c.2871C>G (p.Ser957=)
c.2685C>G (p.Ser895=)
n.3281C>G
c.2976C>G (p.Ser992=)
c.3042C>G (p.Ser1014=)
c.2994C>G (p.Ser998=)
c.2859C>G (p.Ser953=)
c.2896-38C>G (n.2896-38C>G)
16g.28836085C>TCA494869424ATXN2Lc.3048C>T (p.Ser1016=)
c.1023C>T (p.Ser341=)
n.3422C>T
c.243C>T (p.Ser81=)
c.3066C>T (p.Ser1022=)
c.2112C>T (n.2112C>T)
c.317C>T
c.1026C>T (p.Ser342=)
c.3069C>T (p.Ser1023=)
c.3051C>T (p.Ser1017=)
c.2889C>T (p.Ser963=)
c.2997C>T (p.Ser999=)
c.2979C>T (p.Ser993=)
c.2703C>T (p.Ser901=)
n.3278C>T
c.2871C>T (p.Ser957=)
c.2685C>T (p.Ser895=)
n.3281C>T
c.2976C>T (p.Ser992=)
c.3042C>T (p.Ser1014=)
c.2994C>T (p.Ser998=)
c.2859C>T (p.Ser953=)
c.2896-38C>T (n.2896-38C>T)
16g.28836086A>CCA395409272ATXN2Lc.3049A>C (p.Thr1017Pro)
c.1024A>C (p.Thr342Pro)
n.3423A>C
c.244A>C (p.Thr82Pro)
c.3067A>C (p.Thr1023Pro)
c.2113A>C (n.2113A>C)
c.318A>C
c.1027A>C (p.Thr343Pro)
c.3070A>C (p.Thr1024Pro)
c.3052A>C (p.Thr1018Pro)
c.2890A>C (p.Thr964Pro)
c.2998A>C (p.Thr1000Pro)
c.2980A>C (p.Thr994Pro)
c.2704A>C (p.Thr902Pro)
n.3279A>C
c.2872A>C (p.Thr958Pro)
c.2686A>C (p.Thr896Pro)
n.3282A>C
c.2977A>C (p.Thr993Pro)
c.3043A>C (p.Thr1015Pro)
c.2995A>C (p.Thr999Pro)
c.2860A>C (p.Thr954Pro)
c.2896-37A>C (n.2896-37A>C)
16g.28836086A>GCA395409273ATXN2Lc.3049A>G (p.Thr1017Ala)
c.1024A>G (p.Thr342Ala)
n.3423A>G
c.244A>G (p.Thr82Ala)
c.3067A>G (p.Thr1023Ala)
c.2113A>G (n.2113A>G)
c.318A>G
c.1027A>G (p.Thr343Ala)
c.3070A>G (p.Thr1024Ala)
c.3052A>G (p.Thr1018Ala)
c.2890A>G (p.Thr964Ala)
c.2998A>G (p.Thr1000Ala)
c.2980A>G (p.Thr994Ala)
c.2704A>G (p.Thr902Ala)
n.3279A>G
c.2872A>G (p.Thr958Ala)
c.2686A>G (p.Thr896Ala)
n.3282A>G
c.2977A>G (p.Thr993Ala)
c.3043A>G (p.Thr1015Ala)
c.2995A>G (p.Thr999Ala)
c.2860A>G (p.Thr954Ala)
c.2896-37A>G (n.2896-37A>G)
 gnomAD v4
16g.28836086A>TCA395409274ATXN2Lc.3049A>T (p.Thr1017Ser)
c.1024A>T (p.Thr342Ser)
n.3423A>T
c.244A>T (p.Thr82Ser)
c.3067A>T (p.Thr1023Ser)
c.2113A>T (n.2113A>T)
c.318A>T
c.1027A>T (p.Thr343Ser)
c.3070A>T (p.Thr1024Ser)
c.3052A>T (p.Thr1018Ser)
c.2890A>T (p.Thr964Ser)
c.2998A>T (p.Thr1000Ser)
c.2980A>T (p.Thr994Ser)
c.2704A>T (p.Thr902Ser)
n.3279A>T
c.2872A>T (p.Thr958Ser)
c.2686A>T (p.Thr896Ser)
n.3282A>T
c.2977A>T (p.Thr993Ser)
c.3043A>T (p.Thr1015Ser)
c.2995A>T (p.Thr999Ser)
c.2860A>T (p.Thr954Ser)
c.2896-37A>T (n.2896-37A>T)

Number of alleles fetched