Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28835556C>A | CA395407957 | ATXN2L | c.2693C>A (p.Ala898Glu) c.668C>A (p.Ala223Glu) n.3067C>A c.2711C>A (p.Ala904Glu) c.1757C>A (n.1757C>A) c.671C>A (p.Ala224Glu) c.213C>A c.2714C>A (p.Ala905Glu) c.2696C>A (p.Ala899Glu) c.2534C>A (p.Ala845Glu) c.2642C>A (p.Ala881Glu) c.2624C>A (p.Ala875Glu) c.2348C>A (p.Ala783Glu) n.2923C>A c.2516C>A (p.Ala839Glu) c.2330C>A (p.Ala777Glu) n.2926C>A c.2621C>A (p.Ala874Glu) c.2687C>A (p.Ala896Glu) c.2639C>A (p.Ala880Glu) c.2504C>A (p.Ala835Glu) | |
16 | g.28835556C= | CA2215806269 | ATXN2L | c.2693C= (p.Ala898=) c.668C= (p.Ala223=) n.3067C= c.2711C= (p.Ala904=) c.1757C= (n.1757C=) c.671C= (p.Ala224=) c.213C= c.2714C= (p.Ala905=) c.2696C= (p.Ala899=) c.2534C= (p.Ala845=) c.2642C= (p.Ala881=) c.2624C= (p.Ala875=) c.2348C= (p.Ala783=) n.2923C= c.2516C= (p.Ala839=) c.2330C= (p.Ala777=) n.2926C= c.2621C= (p.Ala874=) c.2687C= (p.Ala896=) c.2639C= (p.Ala880=) c.2504C= (p.Ala835=) | |
16 | g.28835556C>G | CA395407959 | ATXN2L | c.2693C>G (p.Ala898Gly) c.668C>G (p.Ala223Gly) n.3067C>G c.2711C>G (p.Ala904Gly) c.1757C>G (n.1757C>G) c.671C>G (p.Ala224Gly) c.213C>G c.2714C>G (p.Ala905Gly) c.2696C>G (p.Ala899Gly) c.2534C>G (p.Ala845Gly) c.2642C>G (p.Ala881Gly) c.2624C>G (p.Ala875Gly) c.2348C>G (p.Ala783Gly) n.2923C>G c.2516C>G (p.Ala839Gly) c.2330C>G (p.Ala777Gly) n.2926C>G c.2621C>G (p.Ala874Gly) c.2687C>G (p.Ala896Gly) c.2639C>G (p.Ala880Gly) c.2504C>G (p.Ala835Gly) | |
16 | g.28835556C>T | CA7985075 | ATXN2L | c.2693C>T (p.Ala898Val) c.668C>T (p.Ala223Val) n.3067C>T c.2711C>T (p.Ala904Val) c.1757C>T (n.1757C>T) c.671C>T (p.Ala224Val) c.213C>T c.2714C>T (p.Ala905Val) c.2696C>T (p.Ala899Val) c.2534C>T (p.Ala845Val) c.2642C>T (p.Ala881Val) c.2624C>T (p.Ala875Val) c.2348C>T (p.Ala783Val) n.2923C>T c.2516C>T (p.Ala839Val) c.2330C>T (p.Ala777Val) n.2926C>T c.2621C>T (p.Ala874Val) c.2687C>T (p.Ala896Val) c.2639C>T (p.Ala880Val) c.2504C>T (p.Ala835Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28835557G>A | CA7985076 | ATXN2L | c.2694G>A (p.Ala898=) c.669G>A (p.Ala223=) n.3068G>A c.2712G>A (p.Ala904=) c.1758G>A (n.1758G>A) c.672G>A (p.Ala224=) c.214G>A c.2715G>A (p.Ala905=) c.2697G>A (p.Ala899=) c.2535G>A (p.Ala845=) c.2643G>A (p.Ala881=) c.2625G>A (p.Ala875=) c.2349G>A (p.Ala783=) n.2924G>A c.2517G>A (p.Ala839=) c.2331G>A (p.Ala777=) n.2927G>A c.2622G>A (p.Ala874=) c.2688G>A (p.Ala896=) c.2640G>A (p.Ala880=) c.2505G>A (p.Ala835=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835557G>C | CA494869323 | ATXN2L | c.2694G>C (p.Ala898=) c.669G>C (p.Ala223=) n.3068G>C c.2712G>C (p.Ala904=) c.1758G>C (n.1758G>C) c.672G>C (p.Ala224=) c.214G>C c.2715G>C (p.Ala905=) c.2697G>C (p.Ala899=) c.2535G>C (p.Ala845=) c.2643G>C (p.Ala881=) c.2625G>C (p.Ala875=) c.2349G>C (p.Ala783=) n.2924G>C c.2517G>C (p.Ala839=) c.2331G>C (p.Ala777=) n.2927G>C c.2622G>C (p.Ala874=) c.2688G>C (p.Ala896=) c.2640G>C (p.Ala880=) c.2505G>C (p.Ala835=) | |
16 | g.28835557G= | CA2215806270 | ATXN2L | c.2694G= (p.Ala898=) c.669G= (p.Ala223=) n.3068G= c.2712G= (p.Ala904=) c.1758G= (n.1758G=) c.672G= (p.Ala224=) c.214G= c.2715G= (p.Ala905=) c.2697G= (p.Ala899=) c.2535G= (p.Ala845=) c.2643G= (p.Ala881=) c.2625G= (p.Ala875=) c.2349G= (p.Ala783=) n.2924G= c.2517G= (p.Ala839=) c.2331G= (p.Ala777=) n.2927G= c.2622G= (p.Ala874=) c.2688G= (p.Ala896=) c.2640G= (p.Ala880=) c.2505G= (p.Ala835=) | |
16 | g.28835557G>T | CA494869326 | ATXN2L | c.2694G>T (p.Ala898=) c.669G>T (p.Ala223=) n.3068G>T c.2712G>T (p.Ala904=) c.1758G>T (n.1758G>T) c.672G>T (p.Ala224=) c.214G>T c.2715G>T (p.Ala905=) c.2697G>T (p.Ala899=) c.2535G>T (p.Ala845=) c.2643G>T (p.Ala881=) c.2625G>T (p.Ala875=) c.2349G>T (p.Ala783=) n.2924G>T c.2517G>T (p.Ala839=) c.2331G>T (p.Ala777=) n.2927G>T c.2622G>T (p.Ala874=) c.2688G>T (p.Ala896=) c.2640G>T (p.Ala880=) c.2505G>T (p.Ala835=) | |
16 | g.28835558G>A | CA395407960 | ATXN2L | c.2695G>A (p.Gly899Arg) c.670G>A (p.Gly224Arg) n.3069G>A c.2713G>A (p.Gly905Arg) c.1759G>A (n.1759G>A) c.673G>A (p.Gly225Arg) c.215G>A c.2716G>A (p.Gly906Arg) c.2698G>A (p.Gly900Arg) c.2536G>A (p.Gly846Arg) c.2644G>A (p.Gly882Arg) c.2626G>A (p.Gly876Arg) c.2350G>A (p.Gly784Arg) n.2925G>A c.2518G>A (p.Gly840Arg) c.2332G>A (p.Gly778Arg) n.2928G>A c.2623G>A (p.Gly875Arg) c.2689G>A (p.Gly897Arg) c.2641G>A (p.Gly881Arg) c.2506G>A (p.Gly836Arg) | gnomAD v4 |
16 | g.28835558G>C | CA395407961 | ATXN2L | c.2695G>C (p.Gly899Arg) c.670G>C (p.Gly224Arg) n.3069G>C c.2713G>C (p.Gly905Arg) c.1759G>C (n.1759G>C) c.673G>C (p.Gly225Arg) c.215G>C c.2716G>C (p.Gly906Arg) c.2698G>C (p.Gly900Arg) c.2536G>C (p.Gly846Arg) c.2644G>C (p.Gly882Arg) c.2626G>C (p.Gly876Arg) c.2350G>C (p.Gly784Arg) n.2925G>C c.2518G>C (p.Gly840Arg) c.2332G>C (p.Gly778Arg) n.2928G>C c.2623G>C (p.Gly875Arg) c.2689G>C (p.Gly897Arg) c.2641G>C (p.Gly881Arg) c.2506G>C (p.Gly836Arg) | |
16 | g.28835558G>T | CA395407963 | ATXN2L | c.2695G>T (p.Gly899Trp) c.670G>T (p.Gly224Trp) n.3069G>T c.2713G>T (p.Gly905Trp) c.1759G>T (n.1759G>T) c.673G>T (p.Gly225Trp) c.215G>T c.2716G>T (p.Gly906Trp) c.2698G>T (p.Gly900Trp) c.2536G>T (p.Gly846Trp) c.2644G>T (p.Gly882Trp) c.2626G>T (p.Gly876Trp) c.2350G>T (p.Gly784Trp) n.2925G>T c.2518G>T (p.Gly840Trp) c.2332G>T (p.Gly778Trp) n.2928G>T c.2623G>T (p.Gly875Trp) c.2689G>T (p.Gly897Trp) c.2641G>T (p.Gly881Trp) c.2506G>T (p.Gly836Trp) | gnomAD v4 |
16 | g.28835559G>A | CA395407964 | ATXN2L | c.2696G>A (p.Gly899Glu) c.671G>A (p.Gly224Glu) n.3070G>A c.2714G>A (p.Gly905Glu) c.1760G>A (n.1760G>A) c.674G>A (p.Gly225Glu) c.216G>A c.2717G>A (p.Gly906Glu) c.2699G>A (p.Gly900Glu) c.2537G>A (p.Gly846Glu) c.2645G>A (p.Gly882Glu) c.2627G>A (p.Gly876Glu) c.2351G>A (p.Gly784Glu) n.2926G>A c.2519G>A (p.Gly840Glu) c.2333G>A (p.Gly778Glu) n.2929G>A c.2624G>A (p.Gly875Glu) c.2690G>A (p.Gly897Glu) c.2642G>A (p.Gly881Glu) c.2507G>A (p.Gly836Glu) | |
16 | g.28835559G>C | CA395407966 | ATXN2L | c.2696G>C (p.Gly899Ala) c.671G>C (p.Gly224Ala) n.3070G>C c.2714G>C (p.Gly905Ala) c.1760G>C (n.1760G>C) c.674G>C (p.Gly225Ala) c.216G>C c.2717G>C (p.Gly906Ala) c.2699G>C (p.Gly900Ala) c.2537G>C (p.Gly846Ala) c.2645G>C (p.Gly882Ala) c.2627G>C (p.Gly876Ala) c.2351G>C (p.Gly784Ala) n.2926G>C c.2519G>C (p.Gly840Ala) c.2333G>C (p.Gly778Ala) n.2929G>C c.2624G>C (p.Gly875Ala) c.2690G>C (p.Gly897Ala) c.2642G>C (p.Gly881Ala) c.2507G>C (p.Gly836Ala) | |
16 | g.28835559G>T | CA395407968 | ATXN2L | c.2696G>T (p.Gly899Val) c.671G>T (p.Gly224Val) n.3070G>T c.2714G>T (p.Gly905Val) c.1760G>T (n.1760G>T) c.674G>T (p.Gly225Val) c.216G>T c.2717G>T (p.Gly906Val) c.2699G>T (p.Gly900Val) c.2537G>T (p.Gly846Val) c.2645G>T (p.Gly882Val) c.2627G>T (p.Gly876Val) c.2351G>T (p.Gly784Val) n.2926G>T c.2519G>T (p.Gly840Val) c.2333G>T (p.Gly778Val) n.2929G>T c.2624G>T (p.Gly875Val) c.2690G>T (p.Gly897Val) c.2642G>T (p.Gly881Val) c.2507G>T (p.Gly836Val) | |
16 | g.28835560G>A | CA494869334 | ATXN2L | c.2697G>A (p.Gly899=) c.672G>A (p.Gly224=) n.3071G>A c.2715G>A (p.Gly905=) c.1761G>A (n.1761G>A) c.675G>A (p.Gly225=) c.217G>A c.2718G>A (p.Gly906=) c.2700G>A (p.Gly900=) c.2538G>A (p.Gly846=) c.2646G>A (p.Gly882=) c.2628G>A (p.Gly876=) c.2352G>A (p.Gly784=) n.2927G>A c.2520G>A (p.Gly840=) c.2334G>A (p.Gly778=) n.2930G>A c.2625G>A (p.Gly875=) c.2691G>A (p.Gly897=) c.2643G>A (p.Gly881=) c.2508G>A (p.Gly836=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835560G>C | CA494869336 | ATXN2L | c.2697G>C (p.Gly899=) c.672G>C (p.Gly224=) n.3071G>C c.2715G>C (p.Gly905=) c.1761G>C (n.1761G>C) c.675G>C (p.Gly225=) c.217G>C c.2718G>C (p.Gly906=) c.2700G>C (p.Gly900=) c.2538G>C (p.Gly846=) c.2646G>C (p.Gly882=) c.2628G>C (p.Gly876=) c.2352G>C (p.Gly784=) n.2927G>C c.2520G>C (p.Gly840=) c.2334G>C (p.Gly778=) n.2930G>C c.2625G>C (p.Gly875=) c.2691G>C (p.Gly897=) c.2643G>C (p.Gly881=) c.2508G>C (p.Gly836=) | |
16 | g.28835560G= | CA2215806271 | ATXN2L | c.2697G= (p.Gly899=) c.672G= (p.Gly224=) n.3071G= c.2715G= (p.Gly905=) c.1761G= (n.1761G=) c.675G= (p.Gly225=) c.217G= c.2718G= (p.Gly906=) c.2700G= (p.Gly900=) c.2538G= (p.Gly846=) c.2646G= (p.Gly882=) c.2628G= (p.Gly876=) c.2352G= (p.Gly784=) n.2927G= c.2520G= (p.Gly840=) c.2334G= (p.Gly778=) n.2930G= c.2625G= (p.Gly875=) c.2691G= (p.Gly897=) c.2643G= (p.Gly881=) c.2508G= (p.Gly836=) | |
16 | g.28835560G>T | CA494869342 | ATXN2L | c.2697G>T (p.Gly899=) c.672G>T (p.Gly224=) n.3071G>T c.2715G>T (p.Gly905=) c.1761G>T (n.1761G>T) c.675G>T (p.Gly225=) c.217G>T c.2718G>T (p.Gly906=) c.2700G>T (p.Gly900=) c.2538G>T (p.Gly846=) c.2646G>T (p.Gly882=) c.2628G>T (p.Gly876=) c.2352G>T (p.Gly784=) n.2927G>T c.2520G>T (p.Gly840=) c.2334G>T (p.Gly778=) n.2930G>T c.2625G>T (p.Gly875=) c.2691G>T (p.Gly897=) c.2643G>T (p.Gly881=) c.2508G>T (p.Gly836=) | |
16 | g.28835561C>A | CA395407970 | ATXN2L | c.2698C>A (p.Gln900Lys) c.673C>A (p.Gln225Lys) n.3072C>A c.2716C>A (p.Gln906Lys) c.1762C>A (n.1762C>A) c.676C>A (p.Gln226Lys) c.218C>A c.2719C>A (p.Gln907Lys) c.2701C>A (p.Gln901Lys) c.2539C>A (p.Gln847Lys) c.2647C>A (p.Gln883Lys) c.2629C>A (p.Gln877Lys) c.2353C>A (p.Gln785Lys) n.2928C>A c.2521C>A (p.Gln841Lys) c.2335C>A (p.Gln779Lys) n.2931C>A c.2626C>A (p.Gln876Lys) c.2692C>A (p.Gln898Lys) c.2644C>A (p.Gln882Lys) c.2509C>A (p.Gln837Lys) | |
16 | g.28835561C>G | CA395407974 | ATXN2L | c.2698C>G (p.Gln900Glu) c.673C>G (p.Gln225Glu) n.3072C>G c.2716C>G (p.Gln906Glu) c.1762C>G (n.1762C>G) c.676C>G (p.Gln226Glu) c.218C>G c.2719C>G (p.Gln907Glu) c.2701C>G (p.Gln901Glu) c.2539C>G (p.Gln847Glu) c.2647C>G (p.Gln883Glu) c.2629C>G (p.Gln877Glu) c.2353C>G (p.Gln785Glu) n.2928C>G c.2521C>G (p.Gln841Glu) c.2335C>G (p.Gln779Glu) n.2931C>G c.2626C>G (p.Gln876Glu) c.2692C>G (p.Gln898Glu) c.2644C>G (p.Gln882Glu) c.2509C>G (p.Gln837Glu) | |
16 | g.28835561C>T | CA395407972 | ATXN2L | c.2698C>T (p.Gln900Ter) c.673C>T (p.Gln225Ter) n.3072C>T c.2716C>T (p.Gln906Ter) c.1762C>T (n.1762C>T) c.676C>T (p.Gln226Ter) c.218C>T c.2719C>T (p.Gln907Ter) c.2701C>T (p.Gln901Ter) c.2539C>T (p.Gln847Ter) c.2647C>T (p.Gln883Ter) c.2629C>T (p.Gln877Ter) c.2353C>T (p.Gln785Ter) n.2928C>T c.2521C>T (p.Gln841Ter) c.2335C>T (p.Gln779Ter) n.2931C>T c.2626C>T (p.Gln876Ter) c.2692C>T (p.Gln898Ter) c.2644C>T (p.Gln882Ter) c.2509C>T (p.Gln837Ter) | |
16 | g.28835562A>C | CA395407975 | ATXN2L | c.2699A>C (p.Gln900Pro) c.674A>C (p.Gln225Pro) n.3073A>C c.2717A>C (p.Gln906Pro) c.1763A>C (n.1763A>C) c.677A>C (p.Gln226Pro) c.219A>C c.2720A>C (p.Gln907Pro) c.2702A>C (p.Gln901Pro) c.2540A>C (p.Gln847Pro) c.2648A>C (p.Gln883Pro) c.2630A>C (p.Gln877Pro) c.2354A>C (p.Gln785Pro) n.2929A>C c.2522A>C (p.Gln841Pro) c.2336A>C (p.Gln779Pro) n.2932A>C c.2627A>C (p.Gln876Pro) c.2693A>C (p.Gln898Pro) c.2645A>C (p.Gln882Pro) c.2510A>C (p.Gln837Pro) | |
16 | g.28835562A>G | CA395407978 | ATXN2L | c.2699A>G (p.Gln900Arg) c.674A>G (p.Gln225Arg) n.3073A>G c.2717A>G (p.Gln906Arg) c.1763A>G (n.1763A>G) c.677A>G (p.Gln226Arg) c.219A>G c.2720A>G (p.Gln907Arg) c.2702A>G (p.Gln901Arg) c.2540A>G (p.Gln847Arg) c.2648A>G (p.Gln883Arg) c.2630A>G (p.Gln877Arg) c.2354A>G (p.Gln785Arg) n.2929A>G c.2522A>G (p.Gln841Arg) c.2336A>G (p.Gln779Arg) n.2932A>G c.2627A>G (p.Gln876Arg) c.2693A>G (p.Gln898Arg) c.2645A>G (p.Gln882Arg) c.2510A>G (p.Gln837Arg) | gnomAD v4 |
16 | g.28835562A>T | CA395407976 | ATXN2L | c.2699A>T (p.Gln900Leu) c.674A>T (p.Gln225Leu) n.3073A>T c.2717A>T (p.Gln906Leu) c.1763A>T (n.1763A>T) c.677A>T (p.Gln226Leu) c.219A>T c.2720A>T (p.Gln907Leu) c.2702A>T (p.Gln901Leu) c.2540A>T (p.Gln847Leu) c.2648A>T (p.Gln883Leu) c.2630A>T (p.Gln877Leu) c.2354A>T (p.Gln785Leu) n.2929A>T c.2522A>T (p.Gln841Leu) c.2336A>T (p.Gln779Leu) n.2932A>T c.2627A>T (p.Gln876Leu) c.2693A>T (p.Gln898Leu) c.2645A>T (p.Gln882Leu) c.2510A>T (p.Gln837Leu) | |
16 | g.28835563G>A | CA494869360 | ATXN2L | c.2700G>A (p.Gln900=) c.675G>A (p.Gln225=) n.3074G>A c.2718G>A (p.Gln906=) c.1764G>A (n.1764G>A) c.678G>A (p.Gln226=) c.220G>A c.2721G>A (p.Gln907=) c.2703G>A (p.Gln901=) c.2541G>A (p.Gln847=) c.2649G>A (p.Gln883=) c.2631G>A (p.Gln877=) c.2355G>A (p.Gln785=) n.2930G>A c.2523G>A (p.Gln841=) c.2337G>A (p.Gln779=) n.2933G>A c.2628G>A (p.Gln876=) c.2694G>A (p.Gln898=) c.2646G>A (p.Gln882=) c.2511G>A (p.Gln837=) | |
16 | g.28835563G>C | CA395407980 | ATXN2L | c.2700G>C (p.Gln900His) c.675G>C (p.Gln225His) n.3074G>C c.2718G>C (p.Gln906His) c.1764G>C (n.1764G>C) c.678G>C (p.Gln226His) c.220G>C c.2721G>C (p.Gln907His) c.2703G>C (p.Gln901His) c.2541G>C (p.Gln847His) c.2649G>C (p.Gln883His) c.2631G>C (p.Gln877His) c.2355G>C (p.Gln785His) n.2930G>C c.2523G>C (p.Gln841His) c.2337G>C (p.Gln779His) n.2933G>C c.2628G>C (p.Gln876His) c.2694G>C (p.Gln898His) c.2646G>C (p.Gln882His) c.2511G>C (p.Gln837His) | |
16 | g.28835563G>T | CA395407982 | ATXN2L | c.2700G>T (p.Gln900His) c.675G>T (p.Gln225His) n.3074G>T c.2718G>T (p.Gln906His) c.1764G>T (n.1764G>T) c.678G>T (p.Gln226His) c.220G>T c.2721G>T (p.Gln907His) c.2703G>T (p.Gln901His) c.2541G>T (p.Gln847His) c.2649G>T (p.Gln883His) c.2631G>T (p.Gln877His) c.2355G>T (p.Gln785His) n.2930G>T c.2523G>T (p.Gln841His) c.2337G>T (p.Gln779His) n.2933G>T c.2628G>T (p.Gln876His) c.2694G>T (p.Gln898His) c.2646G>T (p.Gln882His) c.2511G>T (p.Gln837His) | |
16 | g.28835564G>A | CA395407985 | ATXN2L | c.2701G>A (p.Ala901Thr) c.676G>A (p.Ala226Thr) n.3075G>A c.2719G>A (p.Ala907Thr) c.1765G>A (n.1765G>A) c.679G>A (p.Ala227Thr) c.221G>A c.2722G>A (p.Ala908Thr) c.2704G>A (p.Ala902Thr) c.2542G>A (p.Ala848Thr) c.2650G>A (p.Ala884Thr) c.2632G>A (p.Ala878Thr) c.2356G>A (p.Ala786Thr) n.2931G>A c.2524G>A (p.Ala842Thr) c.2338G>A (p.Ala780Thr) n.2934G>A c.2629G>A (p.Ala877Thr) c.2695G>A (p.Ala899Thr) c.2647G>A (p.Ala883Thr) c.2512G>A (p.Ala838Thr) | |
16 | g.28835564G>C | CA395407986 | ATXN2L | c.2701G>C (p.Ala901Pro) c.676G>C (p.Ala226Pro) n.3075G>C c.2719G>C (p.Ala907Pro) c.1765G>C (n.1765G>C) c.679G>C (p.Ala227Pro) c.221G>C c.2722G>C (p.Ala908Pro) c.2704G>C (p.Ala902Pro) c.2542G>C (p.Ala848Pro) c.2650G>C (p.Ala884Pro) c.2632G>C (p.Ala878Pro) c.2356G>C (p.Ala786Pro) n.2931G>C c.2524G>C (p.Ala842Pro) c.2338G>C (p.Ala780Pro) n.2934G>C c.2629G>C (p.Ala877Pro) c.2695G>C (p.Ala899Pro) c.2647G>C (p.Ala883Pro) c.2512G>C (p.Ala838Pro) | |
16 | g.28835564G>T | CA395407988 | ATXN2L | c.2701G>T (p.Ala901Ser) c.676G>T (p.Ala226Ser) n.3075G>T c.2719G>T (p.Ala907Ser) c.1765G>T (n.1765G>T) c.679G>T (p.Ala227Ser) c.221G>T c.2722G>T (p.Ala908Ser) c.2704G>T (p.Ala902Ser) c.2542G>T (p.Ala848Ser) c.2650G>T (p.Ala884Ser) c.2632G>T (p.Ala878Ser) c.2356G>T (p.Ala786Ser) n.2931G>T c.2524G>T (p.Ala842Ser) c.2338G>T (p.Ala780Ser) n.2934G>T c.2629G>T (p.Ala877Ser) c.2695G>T (p.Ala899Ser) c.2647G>T (p.Ala883Ser) c.2512G>T (p.Ala838Ser) | gnomAD v4 |
16 | g.28835565C>A | CA395407990 | ATXN2L | c.2702C>A (p.Ala901Asp) c.677C>A (p.Ala226Asp) n.3076C>A c.2720C>A (p.Ala907Asp) c.1766C>A (n.1766C>A) c.680C>A (p.Ala227Asp) c.222C>A c.2723C>A (p.Ala908Asp) c.2705C>A (p.Ala902Asp) c.2543C>A (p.Ala848Asp) c.2651C>A (p.Ala884Asp) c.2633C>A (p.Ala878Asp) c.2357C>A (p.Ala786Asp) n.2932C>A c.2525C>A (p.Ala842Asp) c.2339C>A (p.Ala780Asp) n.2935C>A c.2630C>A (p.Ala877Asp) c.2696C>A (p.Ala899Asp) c.2648C>A (p.Ala883Asp) c.2513C>A (p.Ala838Asp) | |
16 | g.28835565C>G | CA395407991 | ATXN2L | c.2702C>G (p.Ala901Gly) c.677C>G (p.Ala226Gly) n.3076C>G c.2720C>G (p.Ala907Gly) c.1766C>G (n.1766C>G) c.680C>G (p.Ala227Gly) c.222C>G c.2723C>G (p.Ala908Gly) c.2705C>G (p.Ala902Gly) c.2543C>G (p.Ala848Gly) c.2651C>G (p.Ala884Gly) c.2633C>G (p.Ala878Gly) c.2357C>G (p.Ala786Gly) n.2932C>G c.2525C>G (p.Ala842Gly) c.2339C>G (p.Ala780Gly) n.2935C>G c.2630C>G (p.Ala877Gly) c.2696C>G (p.Ala899Gly) c.2648C>G (p.Ala883Gly) c.2513C>G (p.Ala838Gly) | |
16 | g.28835565C>T | CA395407992 | ATXN2L | c.2702C>T (p.Ala901Val) c.677C>T (p.Ala226Val) n.3076C>T c.2720C>T (p.Ala907Val) c.1766C>T (n.1766C>T) c.680C>T (p.Ala227Val) c.222C>T c.2723C>T (p.Ala908Val) c.2705C>T (p.Ala902Val) c.2543C>T (p.Ala848Val) c.2651C>T (p.Ala884Val) c.2633C>T (p.Ala878Val) c.2357C>T (p.Ala786Val) n.2932C>T c.2525C>T (p.Ala842Val) c.2339C>T (p.Ala780Val) n.2935C>T c.2630C>T (p.Ala877Val) c.2696C>T (p.Ala899Val) c.2648C>T (p.Ala883Val) c.2513C>T (p.Ala838Val) | |
16 | g.28835566C>A | CA494869384 | ATXN2L | c.2703C>A (p.Ala901=) c.678C>A (p.Ala226=) n.3077C>A c.2721C>A (p.Ala907=) c.1767C>A (n.1767C>A) c.681C>A (p.Ala227=) c.223C>A c.2724C>A (p.Ala908=) c.2706C>A (p.Ala902=) c.2544C>A (p.Ala848=) c.2652C>A (p.Ala884=) c.2634C>A (p.Ala878=) c.2358C>A (p.Ala786=) n.2933C>A c.2526C>A (p.Ala842=) c.2340C>A (p.Ala780=) n.2936C>A c.2631C>A (p.Ala877=) c.2697C>A (p.Ala899=) c.2649C>A (p.Ala883=) c.2514C>A (p.Ala838=) | gnomAD v4 |
16 | g.28835566C= | CA2215806272 | ATXN2L | c.2703C= (p.Ala901=) c.678C= (p.Ala226=) n.3077C= c.2721C= (p.Ala907=) c.1767C= (n.1767C=) c.681C= (p.Ala227=) c.223C= c.2724C= (p.Ala908=) c.2706C= (p.Ala902=) c.2544C= (p.Ala848=) c.2652C= (p.Ala884=) c.2634C= (p.Ala878=) c.2358C= (p.Ala786=) n.2933C= c.2526C= (p.Ala842=) c.2340C= (p.Ala780=) n.2936C= c.2631C= (p.Ala877=) c.2697C= (p.Ala899=) c.2649C= (p.Ala883=) c.2514C= (p.Ala838=) | |
16 | g.28835566C>G | CA494869387 | ATXN2L | c.2703C>G (p.Ala901=) c.678C>G (p.Ala226=) n.3077C>G c.2721C>G (p.Ala907=) c.1767C>G (n.1767C>G) c.681C>G (p.Ala227=) c.223C>G c.2724C>G (p.Ala908=) c.2706C>G (p.Ala902=) c.2544C>G (p.Ala848=) c.2652C>G (p.Ala884=) c.2634C>G (p.Ala878=) c.2358C>G (p.Ala786=) n.2933C>G c.2526C>G (p.Ala842=) c.2340C>G (p.Ala780=) n.2936C>G c.2631C>G (p.Ala877=) c.2697C>G (p.Ala899=) c.2649C>G (p.Ala883=) c.2514C>G (p.Ala838=) | |
16 | g.28835566C>T | CA279230738 | ATXN2L | c.2703C>T (p.Ala901=) c.678C>T (p.Ala226=) n.3077C>T c.2721C>T (p.Ala907=) c.1767C>T (n.1767C>T) c.681C>T (p.Ala227=) c.223C>T c.2724C>T (p.Ala908=) c.2706C>T (p.Ala902=) c.2544C>T (p.Ala848=) c.2652C>T (p.Ala884=) c.2634C>T (p.Ala878=) c.2358C>T (p.Ala786=) n.2933C>T c.2526C>T (p.Ala842=) c.2340C>T (p.Ala780=) n.2936C>T c.2631C>T (p.Ala877=) c.2697C>T (p.Ala899=) c.2649C>T (p.Ala883=) c.2514C>T (p.Ala838=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835567C>A | CA395407995 | ATXN2L | c.2704C>A (p.Pro902Thr) c.679C>A (p.Pro227Thr) n.3078C>A c.2722C>A (p.Pro908Thr) c.1768C>A (n.1768C>A) c.682C>A (p.Pro228Thr) c.224C>A c.2725C>A (p.Pro909Thr) c.2707C>A (p.Pro903Thr) c.2545C>A (p.Pro849Thr) c.2653C>A (p.Pro885Thr) c.2635C>A (p.Pro879Thr) c.2359C>A (p.Pro787Thr) n.2934C>A c.2527C>A (p.Pro843Thr) c.2341C>A (p.Pro781Thr) n.2937C>A c.2632C>A (p.Pro878Thr) c.2698C>A (p.Pro900Thr) c.2650C>A (p.Pro884Thr) c.2515C>A (p.Pro839Thr) | |
16 | g.28835567C= | CA2215806275 | ATXN2L | c.2704C= (p.Pro902=) c.679C= (p.Pro227=) n.3078C= c.2722C= (p.Pro908=) c.1768C= (n.1768C=) c.682C= (p.Pro228=) c.224C= c.2725C= (p.Pro909=) c.2707C= (p.Pro903=) c.2545C= (p.Pro849=) c.2653C= (p.Pro885=) c.2635C= (p.Pro879=) c.2359C= (p.Pro787=) n.2934C= c.2527C= (p.Pro843=) c.2341C= (p.Pro781=) n.2937C= c.2632C= (p.Pro878=) c.2698C= (p.Pro900=) c.2650C= (p.Pro884=) c.2515C= (p.Pro839=) | |
16 | g.28835567C>G | CA7985077 | ATXN2L | c.2704C>G (p.Pro902Ala) c.679C>G (p.Pro227Ala) n.3078C>G c.2722C>G (p.Pro908Ala) c.1768C>G (n.1768C>G) c.682C>G (p.Pro228Ala) c.224C>G c.2725C>G (p.Pro909Ala) c.2707C>G (p.Pro903Ala) c.2545C>G (p.Pro849Ala) c.2653C>G (p.Pro885Ala) c.2635C>G (p.Pro879Ala) c.2359C>G (p.Pro787Ala) n.2934C>G c.2527C>G (p.Pro843Ala) c.2341C>G (p.Pro781Ala) n.2937C>G c.2632C>G (p.Pro878Ala) c.2698C>G (p.Pro900Ala) c.2650C>G (p.Pro884Ala) c.2515C>G (p.Pro839Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835567C>T | CA395407997 | ATXN2L | c.2704C>T (p.Pro902Ser) c.679C>T (p.Pro227Ser) n.3078C>T c.2722C>T (p.Pro908Ser) c.1768C>T (n.1768C>T) c.682C>T (p.Pro228Ser) c.224C>T c.2725C>T (p.Pro909Ser) c.2707C>T (p.Pro903Ser) c.2545C>T (p.Pro849Ser) c.2653C>T (p.Pro885Ser) c.2635C>T (p.Pro879Ser) c.2359C>T (p.Pro787Ser) n.2934C>T c.2527C>T (p.Pro843Ser) c.2341C>T (p.Pro781Ser) n.2937C>T c.2632C>T (p.Pro878Ser) c.2698C>T (p.Pro900Ser) c.2650C>T (p.Pro884Ser) c.2515C>T (p.Pro839Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835568C>A | CA395408003 | ATXN2L | c.2705C>A (p.Pro902Gln) c.680C>A (p.Pro227Gln) n.3079C>A c.2723C>A (p.Pro908Gln) c.1769C>A (n.1769C>A) c.683C>A (p.Pro228Gln) c.225C>A c.2726C>A (p.Pro909Gln) c.2708C>A (p.Pro903Gln) c.2546C>A (p.Pro849Gln) c.2654C>A (p.Pro885Gln) c.2636C>A (p.Pro879Gln) c.2360C>A (p.Pro787Gln) n.2935C>A c.2528C>A (p.Pro843Gln) c.2342C>A (p.Pro781Gln) n.2938C>A c.2633C>A (p.Pro878Gln) c.2699C>A (p.Pro900Gln) c.2651C>A (p.Pro884Gln) c.2516C>A (p.Pro839Gln) | |
16 | g.28835568C>G | CA395408000 | ATXN2L | c.2705C>G (p.Pro902Arg) c.680C>G (p.Pro227Arg) n.3079C>G c.2723C>G (p.Pro908Arg) c.1769C>G (n.1769C>G) c.683C>G (p.Pro228Arg) c.225C>G c.2726C>G (p.Pro909Arg) c.2708C>G (p.Pro903Arg) c.2546C>G (p.Pro849Arg) c.2654C>G (p.Pro885Arg) c.2636C>G (p.Pro879Arg) c.2360C>G (p.Pro787Arg) n.2935C>G c.2528C>G (p.Pro843Arg) c.2342C>G (p.Pro781Arg) n.2938C>G c.2633C>G (p.Pro878Arg) c.2699C>G (p.Pro900Arg) c.2651C>G (p.Pro884Arg) c.2516C>G (p.Pro839Arg) | gnomAD v4 |
16 | g.28835568C>T | CA395408001 | ATXN2L | c.2705C>T (p.Pro902Leu) c.680C>T (p.Pro227Leu) n.3079C>T c.2723C>T (p.Pro908Leu) c.1769C>T (n.1769C>T) c.683C>T (p.Pro228Leu) c.225C>T c.2726C>T (p.Pro909Leu) c.2708C>T (p.Pro903Leu) c.2546C>T (p.Pro849Leu) c.2654C>T (p.Pro885Leu) c.2636C>T (p.Pro879Leu) c.2360C>T (p.Pro787Leu) n.2935C>T c.2528C>T (p.Pro843Leu) c.2342C>T (p.Pro781Leu) n.2938C>T c.2633C>T (p.Pro878Leu) c.2699C>T (p.Pro900Leu) c.2651C>T (p.Pro884Leu) c.2516C>T (p.Pro839Leu) | |
16 | g.28835569A= | CA2215806277 | ATXN2L | c.2706A= (p.Pro902=) c.681A= (p.Pro227=) n.3080A= c.2724A= (p.Pro908=) c.1770A= (n.1770A=) c.684A= (p.Pro228=) c.226A= c.2727A= (p.Pro909=) c.2709A= (p.Pro903=) c.2547A= (p.Pro849=) c.2655A= (p.Pro885=) c.2637A= (p.Pro879=) c.2361A= (p.Pro787=) n.2936A= c.2529A= (p.Pro843=) c.2343A= (p.Pro781=) n.2939A= c.2634A= (p.Pro878=) c.2700A= (p.Pro900=) c.2652A= (p.Pro884=) c.2517A= (p.Pro839=) | |
16 | g.28835569A>C | CA7985078 | ATXN2L | c.2706A>C (p.Pro902=) c.681A>C (p.Pro227=) n.3080A>C c.2724A>C (p.Pro908=) c.1770A>C (n.1770A>C) c.684A>C (p.Pro228=) c.226A>C c.2727A>C (p.Pro909=) c.2709A>C (p.Pro903=) c.2547A>C (p.Pro849=) c.2655A>C (p.Pro885=) c.2637A>C (p.Pro879=) c.2361A>C (p.Pro787=) n.2936A>C c.2529A>C (p.Pro843=) c.2343A>C (p.Pro781=) n.2939A>C c.2634A>C (p.Pro878=) c.2700A>C (p.Pro900=) c.2652A>C (p.Pro884=) c.2517A>C (p.Pro839=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835569A>G | CA494869409 | ATXN2L | c.2706A>G (p.Pro902=) c.681A>G (p.Pro227=) n.3080A>G c.2724A>G (p.Pro908=) c.1770A>G (n.1770A>G) c.684A>G (p.Pro228=) c.226A>G c.2727A>G (p.Pro909=) c.2709A>G (p.Pro903=) c.2547A>G (p.Pro849=) c.2655A>G (p.Pro885=) c.2637A>G (p.Pro879=) c.2361A>G (p.Pro787=) n.2936A>G c.2529A>G (p.Pro843=) c.2343A>G (p.Pro781=) n.2939A>G c.2634A>G (p.Pro878=) c.2700A>G (p.Pro900=) c.2652A>G (p.Pro884=) c.2517A>G (p.Pro839=) | gnomAD v4 |
16 | g.28835569A>T | CA494869410 | ATXN2L | c.2706A>T (p.Pro902=) c.681A>T (p.Pro227=) n.3080A>T c.2724A>T (p.Pro908=) c.1770A>T (n.1770A>T) c.684A>T (p.Pro228=) c.226A>T c.2727A>T (p.Pro909=) c.2709A>T (p.Pro903=) c.2547A>T (p.Pro849=) c.2655A>T (p.Pro885=) c.2637A>T (p.Pro879=) c.2361A>T (p.Pro787=) n.2936A>T c.2529A>T (p.Pro843=) c.2343A>T (p.Pro781=) n.2939A>T c.2634A>T (p.Pro878=) c.2700A>T (p.Pro900=) c.2652A>T (p.Pro884=) c.2517A>T (p.Pro839=) | |
16 | g.28835570C>A | CA395408005 | ATXN2L | c.2707C>A (p.His903Asn) c.682C>A (p.His228Asn) n.3081C>A c.2725C>A (p.His909Asn) c.1771C>A (n.1771C>A) c.685C>A (p.His229Asn) c.227C>A c.2728C>A (p.His910Asn) c.2710C>A (p.His904Asn) c.2548C>A (p.His850Asn) c.2656C>A (p.His886Asn) c.2638C>A (p.His880Asn) c.2362C>A (p.His788Asn) n.2937C>A c.2530C>A (p.His844Asn) c.2344C>A (p.His782Asn) n.2940C>A c.2635C>A (p.His879Asn) c.2701C>A (p.His901Asn) c.2653C>A (p.His885Asn) c.2518C>A (p.His840Asn) | |
16 | g.28835570C>G | CA395408006 | ATXN2L | c.2707C>G (p.His903Asp) c.682C>G (p.His228Asp) n.3081C>G c.2725C>G (p.His909Asp) c.1771C>G (n.1771C>G) c.685C>G (p.His229Asp) c.227C>G c.2728C>G (p.His910Asp) c.2710C>G (p.His904Asp) c.2548C>G (p.His850Asp) c.2656C>G (p.His886Asp) c.2638C>G (p.His880Asp) c.2362C>G (p.His788Asp) n.2937C>G c.2530C>G (p.His844Asp) c.2344C>G (p.His782Asp) n.2940C>G c.2635C>G (p.His879Asp) c.2701C>G (p.His901Asp) c.2653C>G (p.His885Asp) c.2518C>G (p.His840Asp) | |
16 | g.28835570C>T | CA395408008 | ATXN2L | c.2707C>T (p.His903Tyr) c.682C>T (p.His228Tyr) n.3081C>T c.2725C>T (p.His909Tyr) c.1771C>T (n.1771C>T) c.685C>T (p.His229Tyr) c.227C>T c.2728C>T (p.His910Tyr) c.2710C>T (p.His904Tyr) c.2548C>T (p.His850Tyr) c.2656C>T (p.His886Tyr) c.2638C>T (p.His880Tyr) c.2362C>T (p.His788Tyr) n.2937C>T c.2530C>T (p.His844Tyr) c.2344C>T (p.His782Tyr) n.2940C>T c.2635C>T (p.His879Tyr) c.2701C>T (p.His901Tyr) c.2653C>T (p.His885Tyr) c.2518C>T (p.His840Tyr) | gnomAD v4 |
16 | g.28835571A>C | CA395408011 | ATXN2L | c.2708A>C (p.His903Pro) c.683A>C (p.His228Pro) n.3082A>C c.2726A>C (p.His909Pro) c.1772A>C (n.1772A>C) c.686A>C (p.His229Pro) c.228A>C c.2729A>C (p.His910Pro) c.2711A>C (p.His904Pro) c.2549A>C (p.His850Pro) c.2657A>C (p.His886Pro) c.2639A>C (p.His880Pro) c.2363A>C (p.His788Pro) n.2938A>C c.2531A>C (p.His844Pro) c.2345A>C (p.His782Pro) n.2941A>C c.2636A>C (p.His879Pro) c.2702A>C (p.His901Pro) c.2654A>C (p.His885Pro) c.2519A>C (p.His840Pro) | |
16 | g.28835571A>G | CA395408012 | ATXN2L | c.2708A>G (p.His903Arg) c.683A>G (p.His228Arg) n.3082A>G c.2726A>G (p.His909Arg) c.1772A>G (n.1772A>G) c.686A>G (p.His229Arg) c.228A>G c.2729A>G (p.His910Arg) c.2711A>G (p.His904Arg) c.2549A>G (p.His850Arg) c.2657A>G (p.His886Arg) c.2639A>G (p.His880Arg) c.2363A>G (p.His788Arg) n.2938A>G c.2531A>G (p.His844Arg) c.2345A>G (p.His782Arg) n.2941A>G c.2636A>G (p.His879Arg) c.2702A>G (p.His901Arg) c.2654A>G (p.His885Arg) c.2519A>G (p.His840Arg) | |
16 | g.28835571A>T | CA395408014 | ATXN2L | c.2708A>T (p.His903Leu) c.683A>T (p.His228Leu) n.3082A>T c.2726A>T (p.His909Leu) c.1772A>T (n.1772A>T) c.686A>T (p.His229Leu) c.228A>T c.2729A>T (p.His910Leu) c.2711A>T (p.His904Leu) c.2549A>T (p.His850Leu) c.2657A>T (p.His886Leu) c.2639A>T (p.His880Leu) c.2363A>T (p.His788Leu) n.2938A>T c.2531A>T (p.His844Leu) c.2345A>T (p.His782Leu) n.2941A>T c.2636A>T (p.His879Leu) c.2702A>T (p.His901Leu) c.2654A>T (p.His885Leu) c.2519A>T (p.His840Leu) | |
16 | g.28835572C>A | CA395408016 | ATXN2L | c.2709C>A (p.His903Gln) c.684C>A (p.His228Gln) n.3083C>A c.2727C>A (p.His909Gln) c.1773C>A (n.1773C>A) c.687C>A (p.His229Gln) c.229C>A c.2730C>A (p.His910Gln) c.2712C>A (p.His904Gln) c.2550C>A (p.His850Gln) c.2658C>A (p.His886Gln) c.2640C>A (p.His880Gln) c.2364C>A (p.His788Gln) n.2939C>A c.2532C>A (p.His844Gln) c.2346C>A (p.His782Gln) n.2942C>A c.2637C>A (p.His879Gln) c.2703C>A (p.His901Gln) c.2655C>A (p.His885Gln) c.2520C>A (p.His840Gln) | |
16 | g.28835572C= | CA2215806280 | ATXN2L | c.2709C= (p.His903=) c.684C= (p.His228=) n.3083C= c.2727C= (p.His909=) c.1773C= (n.1773C=) c.687C= (p.His229=) c.229C= c.2730C= (p.His910=) c.2712C= (p.His904=) c.2550C= (p.His850=) c.2658C= (p.His886=) c.2640C= (p.His880=) c.2364C= (p.His788=) n.2939C= c.2532C= (p.His844=) c.2346C= (p.His782=) n.2942C= c.2637C= (p.His879=) c.2703C= (p.His901=) c.2655C= (p.His885=) c.2520C= (p.His840=) | |
16 | g.28835572C>G | CA395408018 | ATXN2L | c.2709C>G (p.His903Gln) c.684C>G (p.His228Gln) n.3083C>G c.2727C>G (p.His909Gln) c.1773C>G (n.1773C>G) c.687C>G (p.His229Gln) c.229C>G c.2730C>G (p.His910Gln) c.2712C>G (p.His904Gln) c.2550C>G (p.His850Gln) c.2658C>G (p.His886Gln) c.2640C>G (p.His880Gln) c.2364C>G (p.His788Gln) n.2939C>G c.2532C>G (p.His844Gln) c.2346C>G (p.His782Gln) n.2942C>G c.2637C>G (p.His879Gln) c.2703C>G (p.His901Gln) c.2655C>G (p.His885Gln) c.2520C>G (p.His840Gln) | |
16 | g.28835572C>T | CA494869428 | ATXN2L | c.2709C>T (p.His903=) c.684C>T (p.His228=) n.3083C>T c.2727C>T (p.His909=) c.1773C>T (n.1773C>T) c.687C>T (p.His229=) c.229C>T c.2730C>T (p.His910=) c.2712C>T (p.His904=) c.2550C>T (p.His850=) c.2658C>T (p.His886=) c.2640C>T (p.His880=) c.2364C>T (p.His788=) n.2939C>T c.2532C>T (p.His844=) c.2346C>T (p.His782=) n.2942C>T c.2637C>T (p.His879=) c.2703C>T (p.His901=) c.2655C>T (p.His885=) c.2520C>T (p.His840=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835573T>A | CA395408021 | ATXN2L | c.2710T>A (p.Leu904Met) c.685T>A (p.Leu229Met) n.3084T>A c.2728T>A (p.Leu910Met) c.1774T>A (n.1774T>A) c.688T>A (p.Leu230Met) c.230T>A c.2731T>A (p.Leu911Met) c.2713T>A (p.Leu905Met) c.2551T>A (p.Leu851Met) c.2659T>A (p.Leu887Met) c.2641T>A (p.Leu881Met) c.2365T>A (p.Leu789Met) n.2940T>A c.2533T>A (p.Leu845Met) c.2347T>A (p.Leu783Met) n.2943T>A c.2638T>A (p.Leu880Met) c.2704T>A (p.Leu902Met) c.2656T>A (p.Leu886Met) c.2521T>A (p.Leu841Met) | |
16 | g.28835573T>C | CA494869432 | ATXN2L | c.2710T>C (p.Leu904=) c.685T>C (p.Leu229=) n.3084T>C c.2728T>C (p.Leu910=) c.1774T>C (n.1774T>C) c.688T>C (p.Leu230=) c.230T>C c.2731T>C (p.Leu911=) c.2713T>C (p.Leu905=) c.2551T>C (p.Leu851=) c.2659T>C (p.Leu887=) c.2641T>C (p.Leu881=) c.2365T>C (p.Leu789=) n.2940T>C c.2533T>C (p.Leu845=) c.2347T>C (p.Leu783=) n.2943T>C c.2638T>C (p.Leu880=) c.2704T>C (p.Leu902=) c.2656T>C (p.Leu886=) c.2521T>C (p.Leu841=) | |
16 | g.28835573T>G | CA395408022 | ATXN2L | c.2710T>G (p.Leu904Val) c.685T>G (p.Leu229Val) n.3084T>G c.2728T>G (p.Leu910Val) c.1774T>G (n.1774T>G) c.688T>G (p.Leu230Val) c.230T>G c.2731T>G (p.Leu911Val) c.2713T>G (p.Leu905Val) c.2551T>G (p.Leu851Val) c.2659T>G (p.Leu887Val) c.2641T>G (p.Leu881Val) c.2365T>G (p.Leu789Val) n.2940T>G c.2533T>G (p.Leu845Val) c.2347T>G (p.Leu783Val) n.2943T>G c.2638T>G (p.Leu880Val) c.2704T>G (p.Leu902Val) c.2656T>G (p.Leu886Val) c.2521T>G (p.Leu841Val) | gnomAD v4 |
16 | g.28835574T>A | CA395408027 | ATXN2L | c.2711T>A (p.Leu904Ter) c.686T>A (p.Leu229Ter) n.3085T>A c.2729T>A (p.Leu910Ter) c.1775T>A (n.1775T>A) c.689T>A (p.Leu230Ter) c.231T>A c.2732T>A (p.Leu911Ter) c.2714T>A (p.Leu905Ter) c.2552T>A (p.Leu851Ter) c.2660T>A (p.Leu887Ter) c.2642T>A (p.Leu881Ter) c.2366T>A (p.Leu789Ter) n.2941T>A c.2534T>A (p.Leu845Ter) c.2348T>A (p.Leu783Ter) n.2944T>A c.2639T>A (p.Leu880Ter) c.2705T>A (p.Leu902Ter) c.2657T>A (p.Leu886Ter) c.2522T>A (p.Leu841Ter) | |
16 | g.28835574T>C | CA395408026 | ATXN2L | c.2711T>C (p.Leu904Ser) c.686T>C (p.Leu229Ser) n.3085T>C c.2729T>C (p.Leu910Ser) c.1775T>C (n.1775T>C) c.689T>C (p.Leu230Ser) c.231T>C c.2732T>C (p.Leu911Ser) c.2714T>C (p.Leu905Ser) c.2552T>C (p.Leu851Ser) c.2660T>C (p.Leu887Ser) c.2642T>C (p.Leu881Ser) c.2366T>C (p.Leu789Ser) n.2941T>C c.2534T>C (p.Leu845Ser) c.2348T>C (p.Leu783Ser) n.2944T>C c.2639T>C (p.Leu880Ser) c.2705T>C (p.Leu902Ser) c.2657T>C (p.Leu886Ser) c.2522T>C (p.Leu841Ser) | |
16 | g.28835574T>G | CA395408024 | ATXN2L | c.2711T>G (p.Leu904Trp) c.686T>G (p.Leu229Trp) n.3085T>G c.2729T>G (p.Leu910Trp) c.1775T>G (n.1775T>G) c.689T>G (p.Leu230Trp) c.231T>G c.2732T>G (p.Leu911Trp) c.2714T>G (p.Leu905Trp) c.2552T>G (p.Leu851Trp) c.2660T>G (p.Leu887Trp) c.2642T>G (p.Leu881Trp) c.2366T>G (p.Leu789Trp) n.2941T>G c.2534T>G (p.Leu845Trp) c.2348T>G (p.Leu783Trp) n.2944T>G c.2639T>G (p.Leu880Trp) c.2705T>G (p.Leu902Trp) c.2657T>G (p.Leu886Trp) c.2522T>G (p.Leu841Trp) | |
16 | g.28835575G>A | CA494869443 | ATXN2L | c.2712G>A (p.Leu904=) c.687G>A (p.Leu229=) n.3086G>A c.2730G>A (p.Leu910=) c.1776G>A (n.1776G>A) c.690G>A (p.Leu230=) c.232G>A c.2733G>A (p.Leu911=) c.2715G>A (p.Leu905=) c.2553G>A (p.Leu851=) c.2661G>A (p.Leu887=) c.2643G>A (p.Leu881=) c.2367G>A (p.Leu789=) n.2942G>A c.2535G>A (p.Leu845=) c.2349G>A (p.Leu783=) n.2945G>A c.2640G>A (p.Leu880=) c.2706G>A (p.Leu902=) c.2658G>A (p.Leu886=) c.2523G>A (p.Leu841=) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28835575G>C | CA395408029 | ATXN2L | c.2712G>C (p.Leu904Phe) c.687G>C (p.Leu229Phe) n.3086G>C c.2730G>C (p.Leu910Phe) c.1776G>C (n.1776G>C) c.690G>C (p.Leu230Phe) c.232G>C c.2733G>C (p.Leu911Phe) c.2715G>C (p.Leu905Phe) c.2553G>C (p.Leu851Phe) c.2661G>C (p.Leu887Phe) c.2643G>C (p.Leu881Phe) c.2367G>C (p.Leu789Phe) n.2942G>C c.2535G>C (p.Leu845Phe) c.2349G>C (p.Leu783Phe) n.2945G>C c.2640G>C (p.Leu880Phe) c.2706G>C (p.Leu902Phe) c.2658G>C (p.Leu886Phe) c.2523G>C (p.Leu841Phe) | |
16 | g.28835575G>T | CA395408031 | ATXN2L | c.2712G>T (p.Leu904Phe) c.687G>T (p.Leu229Phe) n.3086G>T c.2730G>T (p.Leu910Phe) c.1776G>T (n.1776G>T) c.690G>T (p.Leu230Phe) c.232G>T c.2733G>T (p.Leu911Phe) c.2715G>T (p.Leu905Phe) c.2553G>T (p.Leu851Phe) c.2661G>T (p.Leu887Phe) c.2643G>T (p.Leu881Phe) c.2367G>T (p.Leu789Phe) n.2942G>T c.2535G>T (p.Leu845Phe) c.2349G>T (p.Leu783Phe) n.2945G>T c.2640G>T (p.Leu880Phe) c.2706G>T (p.Leu902Phe) c.2658G>T (p.Leu886Phe) c.2523G>T (p.Leu841Phe) | |
16 | g.28835576G>A | CA395408033 | ATXN2L | c.2713G>A (p.Gly905Ser) c.688G>A (p.Gly230Ser) n.3087G>A c.2731G>A (p.Gly911Ser) c.1777G>A (n.1777G>A) c.691G>A (p.Gly231Ser) c.233G>A c.2734G>A (p.Gly912Ser) c.2716G>A (p.Gly906Ser) c.2554G>A (p.Gly852Ser) c.2662G>A (p.Gly888Ser) c.2644G>A (p.Gly882Ser) c.2368G>A (p.Gly790Ser) n.2943G>A c.2536G>A (p.Gly846Ser) c.2350G>A (p.Gly784Ser) n.2946G>A c.2641G>A (p.Gly881Ser) c.2707G>A (p.Gly903Ser) c.2659G>A (p.Gly887Ser) c.2524G>A (p.Gly842Ser) | |
16 | g.28835576G>C | CA395408035 | ATXN2L | c.2713G>C (p.Gly905Arg) c.688G>C (p.Gly230Arg) n.3087G>C c.2731G>C (p.Gly911Arg) c.1777G>C (n.1777G>C) c.691G>C (p.Gly231Arg) c.233G>C c.2734G>C (p.Gly912Arg) c.2716G>C (p.Gly906Arg) c.2554G>C (p.Gly852Arg) c.2662G>C (p.Gly888Arg) c.2644G>C (p.Gly882Arg) c.2368G>C (p.Gly790Arg) n.2943G>C c.2536G>C (p.Gly846Arg) c.2350G>C (p.Gly784Arg) n.2946G>C c.2641G>C (p.Gly881Arg) c.2707G>C (p.Gly903Arg) c.2659G>C (p.Gly887Arg) c.2524G>C (p.Gly842Arg) | |
16 | g.28835576G= | CA2215806282 | ATXN2L | c.2713G= (p.Gly905=) c.688G= (p.Gly230=) n.3087G= c.2731G= (p.Gly911=) c.1777G= (n.1777G=) c.691G= (p.Gly231=) c.233G= c.2734G= (p.Gly912=) c.2716G= (p.Gly906=) c.2554G= (p.Gly852=) c.2662G= (p.Gly888=) c.2644G= (p.Gly882=) c.2368G= (p.Gly790=) n.2943G= c.2536G= (p.Gly846=) c.2350G= (p.Gly784=) n.2946G= c.2641G= (p.Gly881=) c.2707G= (p.Gly903=) c.2659G= (p.Gly887=) c.2524G= (p.Gly842=) | |
16 | g.28835576G>T | CA395408037 | ATXN2L | c.2713G>T (p.Gly905Cys) c.688G>T (p.Gly230Cys) n.3087G>T c.2731G>T (p.Gly911Cys) c.1777G>T (n.1777G>T) c.691G>T (p.Gly231Cys) c.233G>T c.2734G>T (p.Gly912Cys) c.2716G>T (p.Gly906Cys) c.2554G>T (p.Gly852Cys) c.2662G>T (p.Gly888Cys) c.2644G>T (p.Gly882Cys) c.2368G>T (p.Gly790Cys) n.2943G>T c.2536G>T (p.Gly846Cys) c.2350G>T (p.Gly784Cys) n.2946G>T c.2641G>T (p.Gly881Cys) c.2707G>T (p.Gly903Cys) c.2659G>T (p.Gly887Cys) c.2524G>T (p.Gly842Cys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835577G>A | CA395408040 | ATXN2L | c.2714G>A (p.Gly905Asp) c.689G>A (p.Gly230Asp) n.3088G>A c.2732G>A (p.Gly911Asp) c.1778G>A (n.1778G>A) c.692G>A (p.Gly231Asp) c.234G>A c.2735G>A (p.Gly912Asp) c.2717G>A (p.Gly906Asp) c.2555G>A (p.Gly852Asp) c.2663G>A (p.Gly888Asp) c.2645G>A (p.Gly882Asp) c.2369G>A (p.Gly790Asp) n.2944G>A c.2537G>A (p.Gly846Asp) c.2351G>A (p.Gly784Asp) n.2947G>A c.2642G>A (p.Gly881Asp) c.2708G>A (p.Gly903Asp) c.2660G>A (p.Gly887Asp) c.2525G>A (p.Gly842Asp) | gnomAD v4 |
16 | g.28835577G>C | CA395408042 | ATXN2L | c.2714G>C (p.Gly905Ala) c.689G>C (p.Gly230Ala) n.3088G>C c.2732G>C (p.Gly911Ala) c.1778G>C (n.1778G>C) c.692G>C (p.Gly231Ala) c.234G>C c.2735G>C (p.Gly912Ala) c.2717G>C (p.Gly906Ala) c.2555G>C (p.Gly852Ala) c.2663G>C (p.Gly888Ala) c.2645G>C (p.Gly882Ala) c.2369G>C (p.Gly790Ala) n.2944G>C c.2537G>C (p.Gly846Ala) c.2351G>C (p.Gly784Ala) n.2947G>C c.2642G>C (p.Gly881Ala) c.2708G>C (p.Gly903Ala) c.2660G>C (p.Gly887Ala) c.2525G>C (p.Gly842Ala) | |
16 | g.28835577G>T | CA395408044 | ATXN2L | c.2714G>T (p.Gly905Val) c.689G>T (p.Gly230Val) n.3088G>T c.2732G>T (p.Gly911Val) c.1778G>T (n.1778G>T) c.692G>T (p.Gly231Val) c.234G>T c.2735G>T (p.Gly912Val) c.2717G>T (p.Gly906Val) c.2555G>T (p.Gly852Val) c.2663G>T (p.Gly888Val) c.2645G>T (p.Gly882Val) c.2369G>T (p.Gly790Val) n.2944G>T c.2537G>T (p.Gly846Val) c.2351G>T (p.Gly784Val) n.2947G>T c.2642G>T (p.Gly881Val) c.2708G>T (p.Gly903Val) c.2660G>T (p.Gly887Val) c.2525G>T (p.Gly842Val) | gnomAD v4 |
16 | g.28835578C>A | CA494869460 | ATXN2L | c.2715C>A (p.Gly905=) c.690C>A (p.Gly230=) n.3089C>A c.2733C>A (p.Gly911=) c.1779C>A (n.1779C>A) c.693C>A (p.Gly231=) c.235C>A c.2736C>A (p.Gly912=) c.2718C>A (p.Gly906=) c.2556C>A (p.Gly852=) c.2664C>A (p.Gly888=) c.2646C>A (p.Gly882=) c.2370C>A (p.Gly790=) n.2945C>A c.2538C>A (p.Gly846=) c.2352C>A (p.Gly784=) n.2948C>A c.2643C>A (p.Gly881=) c.2709C>A (p.Gly903=) c.2661C>A (p.Gly887=) c.2526C>A (p.Gly842=) | |
16 | g.28835578C= | CA2215806287 | ATXN2L | c.2715C= (p.Gly905=) c.690C= (p.Gly230=) n.3089C= c.2733C= (p.Gly911=) c.1779C= (n.1779C=) c.693C= (p.Gly231=) c.235C= c.2736C= (p.Gly912=) c.2718C= (p.Gly906=) c.2556C= (p.Gly852=) c.2664C= (p.Gly888=) c.2646C= (p.Gly882=) c.2370C= (p.Gly790=) n.2945C= c.2538C= (p.Gly846=) c.2352C= (p.Gly784=) n.2948C= c.2643C= (p.Gly881=) c.2709C= (p.Gly903=) c.2661C= (p.Gly887=) c.2526C= (p.Gly842=) | |
16 | g.28835578C>G | CA494869463 | ATXN2L | c.2715C>G (p.Gly905=) c.690C>G (p.Gly230=) n.3089C>G c.2733C>G (p.Gly911=) c.1779C>G (n.1779C>G) c.693C>G (p.Gly231=) c.235C>G c.2736C>G (p.Gly912=) c.2718C>G (p.Gly906=) c.2556C>G (p.Gly852=) c.2664C>G (p.Gly888=) c.2646C>G (p.Gly882=) c.2370C>G (p.Gly790=) n.2945C>G c.2538C>G (p.Gly846=) c.2352C>G (p.Gly784=) n.2948C>G c.2643C>G (p.Gly881=) c.2709C>G (p.Gly903=) c.2661C>G (p.Gly887=) c.2526C>G (p.Gly842=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835578C>T | CA494869466 | ATXN2L | c.2715C>T (p.Gly905=) c.690C>T (p.Gly230=) n.3089C>T c.2733C>T (p.Gly911=) c.1779C>T (n.1779C>T) c.693C>T (p.Gly231=) c.235C>T c.2736C>T (p.Gly912=) c.2718C>T (p.Gly906=) c.2556C>T (p.Gly852=) c.2664C>T (p.Gly888=) c.2646C>T (p.Gly882=) c.2370C>T (p.Gly790=) n.2945C>T c.2538C>T (p.Gly846=) c.2352C>T (p.Gly784=) n.2948C>T c.2643C>T (p.Gly881=) c.2709C>T (p.Gly903=) c.2661C>T (p.Gly887=) c.2526C>T (p.Gly842=) | |
16 | g.28835579A= | CA2215806290 | ATXN2L | c.2716A= (p.Ser906=) c.691A= (p.Ser231=) n.3090A= c.2734A= (p.Ser912=) c.1780A= (n.1780A=) c.694A= (p.Ser232=) c.236A= c.2737A= (p.Ser913=) c.2719A= (p.Ser907=) c.2557A= (p.Ser853=) c.2665A= (p.Ser889=) c.2647A= (p.Ser883=) c.2371A= (p.Ser791=) n.2946A= c.2539A= (p.Ser847=) c.2353A= (p.Ser785=) n.2949A= c.2644A= (p.Ser882=) c.2710A= (p.Ser904=) c.2662A= (p.Ser888=) c.2527A= (p.Ser843=) | |
16 | g.28835579A>C | CA395408046 | ATXN2L | c.2716A>C (p.Ser906Arg) c.691A>C (p.Ser231Arg) n.3090A>C c.2734A>C (p.Ser912Arg) c.1780A>C (n.1780A>C) c.694A>C (p.Ser232Arg) c.236A>C c.2737A>C (p.Ser913Arg) c.2719A>C (p.Ser907Arg) c.2557A>C (p.Ser853Arg) c.2665A>C (p.Ser889Arg) c.2647A>C (p.Ser883Arg) c.2371A>C (p.Ser791Arg) n.2946A>C c.2539A>C (p.Ser847Arg) c.2353A>C (p.Ser785Arg) n.2949A>C c.2644A>C (p.Ser882Arg) c.2710A>C (p.Ser904Arg) c.2662A>C (p.Ser888Arg) c.2527A>C (p.Ser843Arg) | |
16 | g.28835579A>G | CA7985079 | ATXN2L | c.2716A>G (p.Ser906Gly) c.691A>G (p.Ser231Gly) n.3090A>G c.2734A>G (p.Ser912Gly) c.1780A>G (n.1780A>G) c.694A>G (p.Ser232Gly) c.236A>G c.2737A>G (p.Ser913Gly) c.2719A>G (p.Ser907Gly) c.2557A>G (p.Ser853Gly) c.2665A>G (p.Ser889Gly) c.2647A>G (p.Ser883Gly) c.2371A>G (p.Ser791Gly) n.2946A>G c.2539A>G (p.Ser847Gly) c.2353A>G (p.Ser785Gly) n.2949A>G c.2644A>G (p.Ser882Gly) c.2710A>G (p.Ser904Gly) c.2662A>G (p.Ser888Gly) c.2527A>G (p.Ser843Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835579A>T | CA395408048 | ATXN2L | c.2716A>T (p.Ser906Cys) c.691A>T (p.Ser231Cys) n.3090A>T c.2734A>T (p.Ser912Cys) c.1780A>T (n.1780A>T) c.694A>T (p.Ser232Cys) c.236A>T c.2737A>T (p.Ser913Cys) c.2719A>T (p.Ser907Cys) c.2557A>T (p.Ser853Cys) c.2665A>T (p.Ser889Cys) c.2647A>T (p.Ser883Cys) c.2371A>T (p.Ser791Cys) n.2946A>T c.2539A>T (p.Ser847Cys) c.2353A>T (p.Ser785Cys) n.2949A>T c.2644A>T (p.Ser882Cys) c.2710A>T (p.Ser904Cys) c.2662A>T (p.Ser888Cys) c.2527A>T (p.Ser843Cys) | |
16 | g.28835580G>A | CA7985080 | ATXN2L | c.2717G>A (p.Ser906Asn) c.692G>A (p.Ser231Asn) n.3091G>A c.2735G>A (p.Ser912Asn) c.1781G>A (n.1781G>A) c.695G>A (p.Ser232Asn) c.237G>A c.2738G>A (p.Ser913Asn) c.2720G>A (p.Ser907Asn) c.2558G>A (p.Ser853Asn) c.2666G>A (p.Ser889Asn) c.2648G>A (p.Ser883Asn) c.2372G>A (p.Ser791Asn) n.2947G>A c.2540G>A (p.Ser847Asn) c.2354G>A (p.Ser785Asn) n.2950G>A c.2645G>A (p.Ser882Asn) c.2711G>A (p.Ser904Asn) c.2663G>A (p.Ser888Asn) c.2528G>A (p.Ser843Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835580G>C | CA7985081 | ATXN2L | c.2717G>C (p.Ser906Thr) c.692G>C (p.Ser231Thr) n.3091G>C c.2735G>C (p.Ser912Thr) c.1781G>C (n.1781G>C) c.695G>C (p.Ser232Thr) c.237G>C c.2738G>C (p.Ser913Thr) c.2720G>C (p.Ser907Thr) c.2558G>C (p.Ser853Thr) c.2666G>C (p.Ser889Thr) c.2648G>C (p.Ser883Thr) c.2372G>C (p.Ser791Thr) n.2947G>C c.2540G>C (p.Ser847Thr) c.2354G>C (p.Ser785Thr) n.2950G>C c.2645G>C (p.Ser882Thr) c.2711G>C (p.Ser904Thr) c.2663G>C (p.Ser888Thr) c.2528G>C (p.Ser843Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835580G= | CA2215806294 | ATXN2L | c.2717G= (p.Ser906=) c.692G= (p.Ser231=) n.3091G= c.2735G= (p.Ser912=) c.1781G= (n.1781G=) c.695G= (p.Ser232=) c.237G= c.2738G= (p.Ser913=) c.2720G= (p.Ser907=) c.2558G= (p.Ser853=) c.2666G= (p.Ser889=) c.2648G= (p.Ser883=) c.2372G= (p.Ser791=) n.2947G= c.2540G= (p.Ser847=) c.2354G= (p.Ser785=) n.2950G= c.2645G= (p.Ser882=) c.2711G= (p.Ser904=) c.2663G= (p.Ser888=) c.2528G= (p.Ser843=) | |
16 | g.28835580G>T | CA395408051 | ATXN2L | c.2717G>T (p.Ser906Ile) c.692G>T (p.Ser231Ile) n.3091G>T c.2735G>T (p.Ser912Ile) c.1781G>T (n.1781G>T) c.695G>T (p.Ser232Ile) c.237G>T c.2738G>T (p.Ser913Ile) c.2720G>T (p.Ser907Ile) c.2558G>T (p.Ser853Ile) c.2666G>T (p.Ser889Ile) c.2648G>T (p.Ser883Ile) c.2372G>T (p.Ser791Ile) n.2947G>T c.2540G>T (p.Ser847Ile) c.2354G>T (p.Ser785Ile) n.2950G>T c.2645G>T (p.Ser882Ile) c.2711G>T (p.Ser904Ile) c.2663G>T (p.Ser888Ile) c.2528G>T (p.Ser843Ile) | gnomAD v4 |
16 | g.28835581T>A | CA395408052 | ATXN2L | c.2718T>A (p.Ser906Arg) c.693T>A (p.Ser231Arg) n.3092T>A c.2736T>A (p.Ser912Arg) c.1782T>A (n.1782T>A) c.696T>A (p.Ser232Arg) c.238T>A c.2739T>A (p.Ser913Arg) c.2721T>A (p.Ser907Arg) c.2559T>A (p.Ser853Arg) c.2667T>A (p.Ser889Arg) c.2649T>A (p.Ser883Arg) c.2373T>A (p.Ser791Arg) n.2948T>A c.2541T>A (p.Ser847Arg) c.2355T>A (p.Ser785Arg) n.2951T>A c.2646T>A (p.Ser882Arg) c.2712T>A (p.Ser904Arg) c.2664T>A (p.Ser888Arg) c.2529T>A (p.Ser843Arg) | |
16 | g.28835581T>C | CA494868221 | ATXN2L | c.2718T>C (p.Ser906=) c.693T>C (p.Ser231=) n.3092T>C c.2736T>C (p.Ser912=) c.1782T>C (n.1782T>C) c.696T>C (p.Ser232=) c.238T>C c.2739T>C (p.Ser913=) c.2721T>C (p.Ser907=) c.2559T>C (p.Ser853=) c.2667T>C (p.Ser889=) c.2649T>C (p.Ser883=) c.2373T>C (p.Ser791=) n.2948T>C c.2541T>C (p.Ser847=) c.2355T>C (p.Ser785=) n.2951T>C c.2646T>C (p.Ser882=) c.2712T>C (p.Ser904=) c.2664T>C (p.Ser888=) c.2529T>C (p.Ser843=) | |
16 | g.28835581T>G | CA395408054 | ATXN2L | c.2718T>G (p.Ser906Arg) c.693T>G (p.Ser231Arg) n.3092T>G c.2736T>G (p.Ser912Arg) c.1782T>G (n.1782T>G) c.696T>G (p.Ser232Arg) c.238T>G c.2739T>G (p.Ser913Arg) c.2721T>G (p.Ser907Arg) c.2559T>G (p.Ser853Arg) c.2667T>G (p.Ser889Arg) c.2649T>G (p.Ser883Arg) c.2373T>G (p.Ser791Arg) n.2948T>G c.2541T>G (p.Ser847Arg) c.2355T>G (p.Ser785Arg) n.2951T>G c.2646T>G (p.Ser882Arg) c.2712T>G (p.Ser904Arg) c.2664T>G (p.Ser888Arg) c.2529T>G (p.Ser843Arg) | |
16 | g.28835582G>A | CA395408055 | ATXN2L | c.2719G>A (p.Gly907Arg) c.694G>A (p.Gly232Arg) n.3093G>A c.2737G>A (p.Gly913Arg) c.1783G>A (n.1783G>A) c.697G>A (p.Gly233Arg) c.239G>A c.2740G>A (p.Gly914Arg) c.2722G>A (p.Gly908Arg) c.2560G>A (p.Gly854Arg) c.2668G>A (p.Gly890Arg) c.2650G>A (p.Gly884Arg) c.2374G>A (p.Gly792Arg) n.2949G>A c.2542G>A (p.Gly848Arg) c.2356G>A (p.Gly786Arg) n.2952G>A c.2647G>A (p.Gly883Arg) c.2713G>A (p.Gly905Arg) c.2665G>A (p.Gly889Arg) c.2530G>A (p.Gly844Arg) | |
16 | g.28835582G>C | CA395408056 | ATXN2L | c.2719G>C (p.Gly907Arg) c.694G>C (p.Gly232Arg) n.3093G>C c.2737G>C (p.Gly913Arg) c.1783G>C (n.1783G>C) c.697G>C (p.Gly233Arg) c.239G>C c.2740G>C (p.Gly914Arg) c.2722G>C (p.Gly908Arg) c.2560G>C (p.Gly854Arg) c.2668G>C (p.Gly890Arg) c.2650G>C (p.Gly884Arg) c.2374G>C (p.Gly792Arg) n.2949G>C c.2542G>C (p.Gly848Arg) c.2356G>C (p.Gly786Arg) n.2952G>C c.2647G>C (p.Gly883Arg) c.2713G>C (p.Gly905Arg) c.2665G>C (p.Gly889Arg) c.2530G>C (p.Gly844Arg) | |
16 | g.28835582G>T | CA395408058 | ATXN2L | c.2719G>T (p.Gly907Ter) c.694G>T (p.Gly232Ter) n.3093G>T c.2737G>T (p.Gly913Ter) c.1783G>T (n.1783G>T) c.697G>T (p.Gly233Ter) c.239G>T c.2740G>T (p.Gly914Ter) c.2722G>T (p.Gly908Ter) c.2560G>T (p.Gly854Ter) c.2668G>T (p.Gly890Ter) c.2650G>T (p.Gly884Ter) c.2374G>T (p.Gly792Ter) n.2949G>T c.2542G>T (p.Gly848Ter) c.2356G>T (p.Gly786Ter) n.2952G>T c.2647G>T (p.Gly883Ter) c.2713G>T (p.Gly905Ter) c.2665G>T (p.Gly889Ter) c.2530G>T (p.Gly844Ter) | |
16 | g.28835583G>A | CA395408061 | ATXN2L | c.2720G>A (p.Gly907Glu) c.695G>A (p.Gly232Glu) n.3094G>A c.2738G>A (p.Gly913Glu) c.1784G>A (n.1784G>A) c.698G>A (p.Gly233Glu) c.240G>A c.2741G>A (p.Gly914Glu) c.2723G>A (p.Gly908Glu) c.2561G>A (p.Gly854Glu) c.2669G>A (p.Gly890Glu) c.2651G>A (p.Gly884Glu) c.2375G>A (p.Gly792Glu) n.2950G>A c.2543G>A (p.Gly848Glu) c.2357G>A (p.Gly786Glu) n.2953G>A c.2648G>A (p.Gly883Glu) c.2714G>A (p.Gly905Glu) c.2666G>A (p.Gly889Glu) c.2531G>A (p.Gly844Glu) | |
16 | g.28835583G>C | CA395408062 | ATXN2L | c.2720G>C (p.Gly907Ala) c.695G>C (p.Gly232Ala) n.3094G>C c.2738G>C (p.Gly913Ala) c.1784G>C (n.1784G>C) c.698G>C (p.Gly233Ala) c.240G>C c.2741G>C (p.Gly914Ala) c.2723G>C (p.Gly908Ala) c.2561G>C (p.Gly854Ala) c.2669G>C (p.Gly890Ala) c.2651G>C (p.Gly884Ala) c.2375G>C (p.Gly792Ala) n.2950G>C c.2543G>C (p.Gly848Ala) c.2357G>C (p.Gly786Ala) n.2953G>C c.2648G>C (p.Gly883Ala) c.2714G>C (p.Gly905Ala) c.2666G>C (p.Gly889Ala) c.2531G>C (p.Gly844Ala) | |
16 | g.28835583G>T | CA395408063 | ATXN2L | c.2720G>T (p.Gly907Val) c.695G>T (p.Gly232Val) n.3094G>T c.2738G>T (p.Gly913Val) c.1784G>T (n.1784G>T) c.698G>T (p.Gly233Val) c.240G>T c.2741G>T (p.Gly914Val) c.2723G>T (p.Gly908Val) c.2561G>T (p.Gly854Val) c.2669G>T (p.Gly890Val) c.2651G>T (p.Gly884Val) c.2375G>T (p.Gly792Val) n.2950G>T c.2543G>T (p.Gly848Val) c.2357G>T (p.Gly786Val) n.2953G>T c.2648G>T (p.Gly883Val) c.2714G>T (p.Gly905Val) c.2666G>T (p.Gly889Val) c.2531G>T (p.Gly844Val) | |
16 | g.28835584A>C | CA494868244 | ATXN2L | c.2721A>C (p.Gly907=) c.696A>C (p.Gly232=) n.3095A>C c.2739A>C (p.Gly913=) c.1785A>C (n.1785A>C) c.699A>C (p.Gly233=) c.241A>C c.2742A>C (p.Gly914=) c.2724A>C (p.Gly908=) c.2562A>C (p.Gly854=) c.2670A>C (p.Gly890=) c.2652A>C (p.Gly884=) c.2376A>C (p.Gly792=) n.2951A>C c.2544A>C (p.Gly848=) c.2358A>C (p.Gly786=) n.2954A>C c.2649A>C (p.Gly883=) c.2715A>C (p.Gly905=) c.2667A>C (p.Gly889=) c.2532A>C (p.Gly844=) | |
16 | g.28835584A>G | CA494868241 | ATXN2L | c.2721A>G (p.Gly907=) c.696A>G (p.Gly232=) n.3095A>G c.2739A>G (p.Gly913=) c.1785A>G (n.1785A>G) c.699A>G (p.Gly233=) c.241A>G c.2742A>G (p.Gly914=) c.2724A>G (p.Gly908=) c.2562A>G (p.Gly854=) c.2670A>G (p.Gly890=) c.2652A>G (p.Gly884=) c.2376A>G (p.Gly792=) n.2951A>G c.2544A>G (p.Gly848=) c.2358A>G (p.Gly786=) n.2954A>G c.2649A>G (p.Gly883=) c.2715A>G (p.Gly905=) c.2667A>G (p.Gly889=) c.2532A>G (p.Gly844=) | |
16 | g.28835584A>T | CA494868239 | ATXN2L | c.2721A>T (p.Gly907=) c.696A>T (p.Gly232=) n.3095A>T c.2739A>T (p.Gly913=) c.1785A>T (n.1785A>T) c.699A>T (p.Gly233=) c.241A>T c.2742A>T (p.Gly914=) c.2724A>T (p.Gly908=) c.2562A>T (p.Gly854=) c.2670A>T (p.Gly890=) c.2652A>T (p.Gly884=) c.2376A>T (p.Gly792=) n.2951A>T c.2544A>T (p.Gly848=) c.2358A>T (p.Gly786=) n.2954A>T c.2649A>T (p.Gly883=) c.2715A>T (p.Gly905=) c.2667A>T (p.Gly889=) c.2532A>T (p.Gly844=) | |
16 | g.28835585C>A | CA395408066 | ATXN2L | c.2722C>A (p.Gln908Lys) c.697C>A (p.Gln233Lys) n.3096C>A c.2740C>A (p.Gln914Lys) c.1786C>A (n.1786C>A) c.700C>A (p.Gln234Lys) c.242C>A c.2743C>A (p.Gln915Lys) c.2725C>A (p.Gln909Lys) c.2563C>A (p.Gln855Lys) c.2671C>A (p.Gln891Lys) c.2653C>A (p.Gln885Lys) c.2377C>A (p.Gln793Lys) n.2952C>A c.2545C>A (p.Gln849Lys) c.2359C>A (p.Gln787Lys) n.2955C>A c.2650C>A (p.Gln884Lys) c.2716C>A (p.Gln906Lys) c.2668C>A (p.Gln890Lys) c.2533C>A (p.Gln845Lys) | |
16 | g.28835585C>G | CA395408068 | ATXN2L | c.2722C>G (p.Gln908Glu) c.697C>G (p.Gln233Glu) n.3096C>G c.2740C>G (p.Gln914Glu) c.1786C>G (n.1786C>G) c.700C>G (p.Gln234Glu) c.242C>G c.2743C>G (p.Gln915Glu) c.2725C>G (p.Gln909Glu) c.2563C>G (p.Gln855Glu) c.2671C>G (p.Gln891Glu) c.2653C>G (p.Gln885Glu) c.2377C>G (p.Gln793Glu) n.2952C>G c.2545C>G (p.Gln849Glu) c.2359C>G (p.Gln787Glu) n.2955C>G c.2650C>G (p.Gln884Glu) c.2716C>G (p.Gln906Glu) c.2668C>G (p.Gln890Glu) c.2533C>G (p.Gln845Glu) | |
16 | g.28835585C>T | CA395408069 | ATXN2L | c.2722C>T (p.Gln908Ter) c.697C>T (p.Gln233Ter) n.3096C>T c.2740C>T (p.Gln914Ter) c.1786C>T (n.1786C>T) c.700C>T (p.Gln234Ter) c.242C>T c.2743C>T (p.Gln915Ter) c.2725C>T (p.Gln909Ter) c.2563C>T (p.Gln855Ter) c.2671C>T (p.Gln891Ter) c.2653C>T (p.Gln885Ter) c.2377C>T (p.Gln793Ter) n.2952C>T c.2545C>T (p.Gln849Ter) c.2359C>T (p.Gln787Ter) n.2955C>T c.2650C>T (p.Gln884Ter) c.2716C>T (p.Gln906Ter) c.2668C>T (p.Gln890Ter) c.2533C>T (p.Gln845Ter) | |
16 | g.28835586A>C | CA395408070 | ATXN2L | c.2723A>C (p.Gln908Pro) c.698A>C (p.Gln233Pro) n.3097A>C c.2741A>C (p.Gln914Pro) c.1787A>C (n.1787A>C) c.701A>C (p.Gln234Pro) c.243A>C c.2744A>C (p.Gln915Pro) c.2726A>C (p.Gln909Pro) c.2564A>C (p.Gln855Pro) c.2672A>C (p.Gln891Pro) c.2654A>C (p.Gln885Pro) c.2378A>C (p.Gln793Pro) n.2953A>C c.2546A>C (p.Gln849Pro) c.2360A>C (p.Gln787Pro) n.2956A>C c.2651A>C (p.Gln884Pro) c.2717A>C (p.Gln906Pro) c.2669A>C (p.Gln890Pro) c.2534A>C (p.Gln845Pro) | |
16 | g.28835586A>G | CA395408072 | ATXN2L | c.2723A>G (p.Gln908Arg) c.698A>G (p.Gln233Arg) n.3097A>G c.2741A>G (p.Gln914Arg) c.1787A>G (n.1787A>G) c.701A>G (p.Gln234Arg) c.243A>G c.2744A>G (p.Gln915Arg) c.2726A>G (p.Gln909Arg) c.2564A>G (p.Gln855Arg) c.2672A>G (p.Gln891Arg) c.2654A>G (p.Gln885Arg) c.2378A>G (p.Gln793Arg) n.2953A>G c.2546A>G (p.Gln849Arg) c.2360A>G (p.Gln787Arg) n.2956A>G c.2651A>G (p.Gln884Arg) c.2717A>G (p.Gln906Arg) c.2669A>G (p.Gln890Arg) c.2534A>G (p.Gln845Arg) | |
16 | g.28835586A>T | CA395408074 | ATXN2L | c.2723A>T (p.Gln908Leu) c.698A>T (p.Gln233Leu) n.3097A>T c.2741A>T (p.Gln914Leu) c.1787A>T (n.1787A>T) c.701A>T (p.Gln234Leu) c.243A>T c.2744A>T (p.Gln915Leu) c.2726A>T (p.Gln909Leu) c.2564A>T (p.Gln855Leu) c.2672A>T (p.Gln891Leu) c.2654A>T (p.Gln885Leu) c.2378A>T (p.Gln793Leu) n.2953A>T c.2546A>T (p.Gln849Leu) c.2360A>T (p.Gln787Leu) n.2956A>T c.2651A>T (p.Gln884Leu) c.2717A>T (p.Gln906Leu) c.2669A>T (p.Gln890Leu) c.2534A>T (p.Gln845Leu) | |
16 | g.28835587G>A | CA494868275 | ATXN2L | c.2724G>A (p.Gln908=) c.699G>A (p.Gln233=) n.3098G>A c.2742G>A (p.Gln914=) c.1788G>A (n.1788G>A) c.702G>A (p.Gln234=) c.244G>A c.2745G>A (p.Gln915=) c.2727G>A (p.Gln909=) c.2565G>A (p.Gln855=) c.2673G>A (p.Gln891=) c.2655G>A (p.Gln885=) c.2379G>A (p.Gln793=) n.2954G>A c.2547G>A (p.Gln849=) c.2361G>A (p.Gln787=) n.2957G>A c.2652G>A (p.Gln884=) c.2718G>A (p.Gln906=) c.2670G>A (p.Gln890=) c.2535G>A (p.Gln845=) | |
16 | g.28835587G>C | CA395408076 | ATXN2L | c.2724G>C (p.Gln908His) c.699G>C (p.Gln233His) n.3098G>C c.2742G>C (p.Gln914His) c.1788G>C (n.1788G>C) c.702G>C (p.Gln234His) c.244G>C c.2745G>C (p.Gln915His) c.2727G>C (p.Gln909His) c.2565G>C (p.Gln855His) c.2673G>C (p.Gln891His) c.2655G>C (p.Gln885His) c.2379G>C (p.Gln793His) n.2954G>C c.2547G>C (p.Gln849His) c.2361G>C (p.Gln787His) n.2957G>C c.2652G>C (p.Gln884His) c.2718G>C (p.Gln906His) c.2670G>C (p.Gln890His) c.2535G>C (p.Gln845His) | |
16 | g.28835587G>T | CA395408077 | ATXN2L | c.2724G>T (p.Gln908His) c.699G>T (p.Gln233His) n.3098G>T c.2742G>T (p.Gln914His) c.1788G>T (n.1788G>T) c.702G>T (p.Gln234His) c.244G>T c.2745G>T (p.Gln915His) c.2727G>T (p.Gln909His) c.2565G>T (p.Gln855His) c.2673G>T (p.Gln891His) c.2655G>T (p.Gln885His) c.2379G>T (p.Gln793His) n.2954G>T c.2547G>T (p.Gln849His) c.2361G>T (p.Gln787His) n.2957G>T c.2652G>T (p.Gln884His) c.2718G>T (p.Gln906His) c.2670G>T (p.Gln890His) c.2535G>T (p.Gln845His) | |
16 | g.28835588C>A | CA395408080 | ATXN2L | c.2725C>A (p.Pro909Thr) c.700C>A (p.Pro234Thr) n.3099C>A c.2743C>A (p.Pro915Thr) c.1789C>A (n.1789C>A) c.703C>A (p.Pro235Thr) c.245C>A c.2746C>A (p.Pro916Thr) c.2728C>A (p.Pro910Thr) c.2566C>A (p.Pro856Thr) c.2674C>A (p.Pro892Thr) c.2656C>A (p.Pro886Thr) c.2380C>A (p.Pro794Thr) n.2955C>A c.2548C>A (p.Pro850Thr) c.2362C>A (p.Pro788Thr) n.2958C>A c.2653C>A (p.Pro885Thr) c.2719C>A (p.Pro907Thr) c.2671C>A (p.Pro891Thr) c.2536C>A (p.Pro846Thr) | |
16 | g.28835588C>G | CA395408084 | ATXN2L | c.2725C>G (p.Pro909Ala) c.700C>G (p.Pro234Ala) n.3099C>G c.2743C>G (p.Pro915Ala) c.1789C>G (n.1789C>G) c.703C>G (p.Pro235Ala) c.245C>G c.2746C>G (p.Pro916Ala) c.2728C>G (p.Pro910Ala) c.2566C>G (p.Pro856Ala) c.2674C>G (p.Pro892Ala) c.2656C>G (p.Pro886Ala) c.2380C>G (p.Pro794Ala) n.2955C>G c.2548C>G (p.Pro850Ala) c.2362C>G (p.Pro788Ala) n.2958C>G c.2653C>G (p.Pro885Ala) c.2719C>G (p.Pro907Ala) c.2671C>G (p.Pro891Ala) c.2536C>G (p.Pro846Ala) | |
16 | g.28835588C>T | CA395408082 | ATXN2L | c.2725C>T (p.Pro909Ser) c.700C>T (p.Pro234Ser) n.3099C>T c.2743C>T (p.Pro915Ser) c.1789C>T (n.1789C>T) c.703C>T (p.Pro235Ser) c.245C>T c.2746C>T (p.Pro916Ser) c.2728C>T (p.Pro910Ser) c.2566C>T (p.Pro856Ser) c.2674C>T (p.Pro892Ser) c.2656C>T (p.Pro886Ser) c.2380C>T (p.Pro794Ser) n.2955C>T c.2548C>T (p.Pro850Ser) c.2362C>T (p.Pro788Ser) n.2958C>T c.2653C>T (p.Pro885Ser) c.2719C>T (p.Pro907Ser) c.2671C>T (p.Pro891Ser) c.2536C>T (p.Pro846Ser) | |
16 | g.28835589C>A | CA395408086 | ATXN2L | c.2726C>A (p.Pro909Gln) c.701C>A (p.Pro234Gln) n.3100C>A c.2744C>A (p.Pro915Gln) c.1790C>A (n.1790C>A) c.704C>A (p.Pro235Gln) c.246C>A c.2747C>A (p.Pro916Gln) c.2729C>A (p.Pro910Gln) c.2567C>A (p.Pro856Gln) c.2675C>A (p.Pro892Gln) c.2657C>A (p.Pro886Gln) c.2381C>A (p.Pro794Gln) n.2956C>A c.2549C>A (p.Pro850Gln) c.2363C>A (p.Pro788Gln) n.2959C>A c.2654C>A (p.Pro885Gln) c.2720C>A (p.Pro907Gln) c.2672C>A (p.Pro891Gln) c.2537C>A (p.Pro846Gln) | |
16 | g.28835589C>G | CA395408090 | ATXN2L | c.2726C>G (p.Pro909Arg) c.701C>G (p.Pro234Arg) n.3100C>G c.2744C>G (p.Pro915Arg) c.1790C>G (n.1790C>G) c.704C>G (p.Pro235Arg) c.246C>G c.2747C>G (p.Pro916Arg) c.2729C>G (p.Pro910Arg) c.2567C>G (p.Pro856Arg) c.2675C>G (p.Pro892Arg) c.2657C>G (p.Pro886Arg) c.2381C>G (p.Pro794Arg) n.2956C>G c.2549C>G (p.Pro850Arg) c.2363C>G (p.Pro788Arg) n.2959C>G c.2654C>G (p.Pro885Arg) c.2720C>G (p.Pro907Arg) c.2672C>G (p.Pro891Arg) c.2537C>G (p.Pro846Arg) | |
16 | g.28835589C>T | CA395408088 | ATXN2L | c.2726C>T (p.Pro909Leu) c.701C>T (p.Pro234Leu) n.3100C>T c.2744C>T (p.Pro915Leu) c.1790C>T (n.1790C>T) c.704C>T (p.Pro235Leu) c.246C>T c.2747C>T (p.Pro916Leu) c.2729C>T (p.Pro910Leu) c.2567C>T (p.Pro856Leu) c.2675C>T (p.Pro892Leu) c.2657C>T (p.Pro886Leu) c.2381C>T (p.Pro794Leu) n.2956C>T c.2549C>T (p.Pro850Leu) c.2363C>T (p.Pro788Leu) n.2959C>T c.2654C>T (p.Pro885Leu) c.2720C>T (p.Pro907Leu) c.2672C>T (p.Pro891Leu) c.2537C>T (p.Pro846Leu) | |
16 | g.28835590A= | CA2215806296 | ATXN2L | c.2727A= (p.Pro909=) c.702A= (p.Pro234=) n.3101A= c.2745A= (p.Pro915=) c.1791A= (n.1791A=) c.705A= (p.Pro235=) c.247A= c.2748A= (p.Pro916=) c.2730A= (p.Pro910=) c.2568A= (p.Pro856=) c.2676A= (p.Pro892=) c.2658A= (p.Pro886=) c.2382A= (p.Pro794=) n.2957A= c.2550A= (p.Pro850=) c.2364A= (p.Pro788=) n.2960A= c.2655A= (p.Pro885=) c.2721A= (p.Pro907=) c.2673A= (p.Pro891=) c.2538A= (p.Pro846=) | |
16 | g.28835590A>C | CA494868276 | ATXN2L | c.2727A>C (p.Pro909=) c.702A>C (p.Pro234=) n.3101A>C c.2745A>C (p.Pro915=) c.1791A>C (n.1791A>C) c.705A>C (p.Pro235=) c.247A>C c.2748A>C (p.Pro916=) c.2730A>C (p.Pro910=) c.2568A>C (p.Pro856=) c.2676A>C (p.Pro892=) c.2658A>C (p.Pro886=) c.2382A>C (p.Pro794=) n.2957A>C c.2550A>C (p.Pro850=) c.2364A>C (p.Pro788=) n.2960A>C c.2655A>C (p.Pro885=) c.2721A>C (p.Pro907=) c.2673A>C (p.Pro891=) c.2538A>C (p.Pro846=) | |
16 | g.28835590A>G | CA7985082 | ATXN2L | c.2727A>G (p.Pro909=) c.702A>G (p.Pro234=) n.3101A>G c.2745A>G (p.Pro915=) c.1791A>G (n.1791A>G) c.705A>G (p.Pro235=) c.247A>G c.2748A>G (p.Pro916=) c.2730A>G (p.Pro910=) c.2568A>G (p.Pro856=) c.2676A>G (p.Pro892=) c.2658A>G (p.Pro886=) c.2382A>G (p.Pro794=) n.2957A>G c.2550A>G (p.Pro850=) c.2364A>G (p.Pro788=) n.2960A>G c.2655A>G (p.Pro885=) c.2721A>G (p.Pro907=) c.2673A>G (p.Pro891=) c.2538A>G (p.Pro846=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835590A>T | CA494868278 | ATXN2L | c.2727A>T (p.Pro909=) c.702A>T (p.Pro234=) n.3101A>T c.2745A>T (p.Pro915=) c.1791A>T (n.1791A>T) c.705A>T (p.Pro235=) c.247A>T c.2748A>T (p.Pro916=) c.2730A>T (p.Pro910=) c.2568A>T (p.Pro856=) c.2676A>T (p.Pro892=) c.2658A>T (p.Pro886=) c.2382A>T (p.Pro794=) n.2957A>T c.2550A>T (p.Pro850=) c.2364A>T (p.Pro788=) n.2960A>T c.2655A>T (p.Pro885=) c.2721A>T (p.Pro907=) c.2673A>T (p.Pro891=) c.2538A>T (p.Pro846=) | |
16 | g.28835591C>A | CA395408095 | ATXN2L | c.2728C>A (p.Gln910Lys) c.703C>A (p.Gln235Lys) n.3102C>A c.2746C>A (p.Gln916Lys) c.1792C>A (n.1792C>A) c.706C>A (p.Gln236Lys) c.248C>A c.2749C>A (p.Gln917Lys) c.2731C>A (p.Gln911Lys) c.2569C>A (p.Gln857Lys) c.2677C>A (p.Gln893Lys) c.2659C>A (p.Gln887Lys) c.2383C>A (p.Gln795Lys) n.2958C>A c.2551C>A (p.Gln851Lys) c.2365C>A (p.Gln789Lys) n.2961C>A c.2656C>A (p.Gln886Lys) c.2722C>A (p.Gln908Lys) c.2674C>A (p.Gln892Lys) c.2539C>A (p.Gln847Lys) | |
16 | g.28835591C>G | CA395408093 | ATXN2L | c.2728C>G (p.Gln910Glu) c.703C>G (p.Gln235Glu) n.3102C>G c.2746C>G (p.Gln916Glu) c.1792C>G (n.1792C>G) c.706C>G (p.Gln236Glu) c.248C>G c.2749C>G (p.Gln917Glu) c.2731C>G (p.Gln911Glu) c.2569C>G (p.Gln857Glu) c.2677C>G (p.Gln893Glu) c.2659C>G (p.Gln887Glu) c.2383C>G (p.Gln795Glu) n.2958C>G c.2551C>G (p.Gln851Glu) c.2365C>G (p.Gln789Glu) n.2961C>G c.2656C>G (p.Gln886Glu) c.2722C>G (p.Gln908Glu) c.2674C>G (p.Gln892Glu) c.2539C>G (p.Gln847Glu) | |
16 | g.28835591C>T | CA395408097 | ATXN2L | c.2728C>T (p.Gln910Ter) c.703C>T (p.Gln235Ter) n.3102C>T c.2746C>T (p.Gln916Ter) c.1792C>T (n.1792C>T) c.706C>T (p.Gln236Ter) c.248C>T c.2749C>T (p.Gln917Ter) c.2731C>T (p.Gln911Ter) c.2569C>T (p.Gln857Ter) c.2677C>T (p.Gln893Ter) c.2659C>T (p.Gln887Ter) c.2383C>T (p.Gln795Ter) n.2958C>T c.2551C>T (p.Gln851Ter) c.2365C>T (p.Gln789Ter) n.2961C>T c.2656C>T (p.Gln886Ter) c.2722C>T (p.Gln908Ter) c.2674C>T (p.Gln892Ter) c.2539C>T (p.Gln847Ter) | |
16 | g.28835592A>C | CA395408099 | ATXN2L | c.2729A>C (p.Gln910Pro) c.704A>C (p.Gln235Pro) n.3103A>C c.2747A>C (p.Gln916Pro) c.1793A>C (n.1793A>C) c.707A>C (p.Gln236Pro) c.249A>C c.2750A>C (p.Gln917Pro) c.2732A>C (p.Gln911Pro) c.2570A>C (p.Gln857Pro) c.2678A>C (p.Gln893Pro) c.2660A>C (p.Gln887Pro) c.2384A>C (p.Gln795Pro) n.2959A>C c.2552A>C (p.Gln851Pro) c.2366A>C (p.Gln789Pro) n.2962A>C c.2657A>C (p.Gln886Pro) c.2723A>C (p.Gln908Pro) c.2675A>C (p.Gln892Pro) c.2540A>C (p.Gln847Pro) | |
16 | g.28835592A>G | CA395408101 | ATXN2L | c.2729A>G (p.Gln910Arg) c.704A>G (p.Gln235Arg) n.3103A>G c.2747A>G (p.Gln916Arg) c.1793A>G (n.1793A>G) c.707A>G (p.Gln236Arg) c.249A>G c.2750A>G (p.Gln917Arg) c.2732A>G (p.Gln911Arg) c.2570A>G (p.Gln857Arg) c.2678A>G (p.Gln893Arg) c.2660A>G (p.Gln887Arg) c.2384A>G (p.Gln795Arg) n.2959A>G c.2552A>G (p.Gln851Arg) c.2366A>G (p.Gln789Arg) n.2962A>G c.2657A>G (p.Gln886Arg) c.2723A>G (p.Gln908Arg) c.2675A>G (p.Gln892Arg) c.2540A>G (p.Gln847Arg) | |
16 | g.28835592A>T | CA395408102 | ATXN2L | c.2729A>T (p.Gln910Leu) c.704A>T (p.Gln235Leu) n.3103A>T c.2747A>T (p.Gln916Leu) c.1793A>T (n.1793A>T) c.707A>T (p.Gln236Leu) c.249A>T c.2750A>T (p.Gln917Leu) c.2732A>T (p.Gln911Leu) c.2570A>T (p.Gln857Leu) c.2678A>T (p.Gln893Leu) c.2660A>T (p.Gln887Leu) c.2384A>T (p.Gln795Leu) n.2959A>T c.2552A>T (p.Gln851Leu) c.2366A>T (p.Gln789Leu) n.2962A>T c.2657A>T (p.Gln886Leu) c.2723A>T (p.Gln908Leu) c.2675A>T (p.Gln892Leu) c.2540A>T (p.Gln847Leu) | |
16 | g.28835593G>A | CA494868341 | ATXN2L | c.2730G>A (p.Gln910=) c.705G>A (p.Gln235=) n.3104G>A c.2748G>A (p.Gln916=) c.1794G>A (n.1794G>A) c.708G>A (p.Gln236=) c.250G>A c.2751G>A (p.Gln917=) c.2733G>A (p.Gln911=) c.2571G>A (p.Gln857=) c.2679G>A (p.Gln893=) c.2661G>A (p.Gln887=) c.2385G>A (p.Gln795=) n.2960G>A c.2553G>A (p.Gln851=) c.2367G>A (p.Gln789=) n.2963G>A c.2658G>A (p.Gln886=) c.2724G>A (p.Gln908=) c.2676G>A (p.Gln892=) c.2541G>A (p.Gln847=) | |
16 | g.28835593G>C | CA395408104 | ATXN2L | c.2730G>C (p.Gln910His) c.705G>C (p.Gln235His) n.3104G>C c.2748G>C (p.Gln916His) c.1794G>C (n.1794G>C) c.708G>C (p.Gln236His) c.250G>C c.2751G>C (p.Gln917His) c.2733G>C (p.Gln911His) c.2571G>C (p.Gln857His) c.2679G>C (p.Gln893His) c.2661G>C (p.Gln887His) c.2385G>C (p.Gln795His) n.2960G>C c.2553G>C (p.Gln851His) c.2367G>C (p.Gln789His) n.2963G>C c.2658G>C (p.Gln886His) c.2724G>C (p.Gln908His) c.2676G>C (p.Gln892His) c.2541G>C (p.Gln847His) | |
16 | g.28835593G>T | CA395408106 | ATXN2L | c.2730G>T (p.Gln910His) c.705G>T (p.Gln235His) n.3104G>T c.2748G>T (p.Gln916His) c.1794G>T (n.1794G>T) c.708G>T (p.Gln236His) c.250G>T c.2751G>T (p.Gln917His) c.2733G>T (p.Gln911His) c.2571G>T (p.Gln857His) c.2679G>T (p.Gln893His) c.2661G>T (p.Gln887His) c.2385G>T (p.Gln795His) n.2960G>T c.2553G>T (p.Gln851His) c.2367G>T (p.Gln789His) n.2963G>T c.2658G>T (p.Gln886His) c.2724G>T (p.Gln908His) c.2676G>T (p.Gln892His) c.2541G>T (p.Gln847His) | |
16 | g.28835594C>A | CA395408109 | ATXN2L | c.2731C>A (p.Gln911Lys) c.706C>A (p.Gln236Lys) n.3105C>A c.2749C>A (p.Gln917Lys) c.1795C>A (n.1795C>A) c.709C>A (p.Gln237Lys) c.251C>A c.2752C>A (p.Gln918Lys) c.2734C>A (p.Gln912Lys) c.2572C>A (p.Gln858Lys) c.2680C>A (p.Gln894Lys) c.2662C>A (p.Gln888Lys) c.2386C>A (p.Gln796Lys) n.2961C>A c.2554C>A (p.Gln852Lys) c.2368C>A (p.Gln790Lys) n.2964C>A c.2659C>A (p.Gln887Lys) c.2725C>A (p.Gln909Lys) c.2677C>A (p.Gln893Lys) c.2542C>A (p.Gln848Lys) | |
16 | g.28835594C>G | CA395408110 | ATXN2L | c.2731C>G (p.Gln911Glu) c.706C>G (p.Gln236Glu) n.3105C>G c.2749C>G (p.Gln917Glu) c.1795C>G (n.1795C>G) c.709C>G (p.Gln237Glu) c.251C>G c.2752C>G (p.Gln918Glu) c.2734C>G (p.Gln912Glu) c.2572C>G (p.Gln858Glu) c.2680C>G (p.Gln894Glu) c.2662C>G (p.Gln888Glu) c.2386C>G (p.Gln796Glu) n.2961C>G c.2554C>G (p.Gln852Glu) c.2368C>G (p.Gln790Glu) n.2964C>G c.2659C>G (p.Gln887Glu) c.2725C>G (p.Gln909Glu) c.2677C>G (p.Gln893Glu) c.2542C>G (p.Gln848Glu) | |
16 | g.28835594C>T | CA395408111 | ATXN2L | c.2731C>T (p.Gln911Ter) c.706C>T (p.Gln236Ter) n.3105C>T c.2749C>T (p.Gln917Ter) c.1795C>T (n.1795C>T) c.709C>T (p.Gln237Ter) c.251C>T c.2752C>T (p.Gln918Ter) c.2734C>T (p.Gln912Ter) c.2572C>T (p.Gln858Ter) c.2680C>T (p.Gln894Ter) c.2662C>T (p.Gln888Ter) c.2386C>T (p.Gln796Ter) n.2961C>T c.2554C>T (p.Gln852Ter) c.2368C>T (p.Gln790Ter) n.2964C>T c.2659C>T (p.Gln887Ter) c.2725C>T (p.Gln909Ter) c.2677C>T (p.Gln893Ter) c.2542C>T (p.Gln848Ter) | |
16 | g.28835595A>C | CA395408114 | ATXN2L | c.2732A>C (p.Gln911Pro) c.707A>C (p.Gln236Pro) n.3106A>C c.2750A>C (p.Gln917Pro) c.1796A>C (n.1796A>C) c.1A>C c.710A>C (p.Gln237Pro) c.252A>C c.2753A>C (p.Gln918Pro) c.2735A>C (p.Gln912Pro) c.2573A>C (p.Gln858Pro) c.2681A>C (p.Gln894Pro) c.2663A>C (p.Gln888Pro) c.2387A>C (p.Gln796Pro) n.2962A>C c.2555A>C (p.Gln852Pro) c.2369A>C (p.Gln790Pro) n.2965A>C c.2660A>C (p.Gln887Pro) c.2726A>C (p.Gln909Pro) c.2678A>C (p.Gln893Pro) c.2543A>C (p.Gln848Pro) | |
16 | g.28835595A>G | CA395408115 | ATXN2L | c.2732A>G (p.Gln911Arg) c.707A>G (p.Gln236Arg) n.3106A>G c.2750A>G (p.Gln917Arg) c.1796A>G (n.1796A>G) c.1A>G c.710A>G (p.Gln237Arg) c.252A>G c.2753A>G (p.Gln918Arg) c.2735A>G (p.Gln912Arg) c.2573A>G (p.Gln858Arg) c.2681A>G (p.Gln894Arg) c.2663A>G (p.Gln888Arg) c.2387A>G (p.Gln796Arg) n.2962A>G c.2555A>G (p.Gln852Arg) c.2369A>G (p.Gln790Arg) n.2965A>G c.2660A>G (p.Gln887Arg) c.2726A>G (p.Gln909Arg) c.2678A>G (p.Gln893Arg) c.2543A>G (p.Gln848Arg) | |
16 | g.28835595A>T | CA395408117 | ATXN2L | c.2732A>T (p.Gln911Leu) c.707A>T (p.Gln236Leu) n.3106A>T c.2750A>T (p.Gln917Leu) c.1796A>T (n.1796A>T) c.1A>T c.710A>T (p.Gln237Leu) c.252A>T c.2753A>T (p.Gln918Leu) c.2735A>T (p.Gln912Leu) c.2573A>T (p.Gln858Leu) c.2681A>T (p.Gln894Leu) c.2663A>T (p.Gln888Leu) c.2387A>T (p.Gln796Leu) n.2962A>T c.2555A>T (p.Gln852Leu) c.2369A>T (p.Gln790Leu) n.2965A>T c.2660A>T (p.Gln887Leu) c.2726A>T (p.Gln909Leu) c.2678A>T (p.Gln893Leu) c.2543A>T (p.Gln848Leu) | |
16 | g.28835596G>A | CA494868371 | ATXN2L | c.2733G>A (p.Gln911=) c.708G>A (p.Gln236=) n.3107G>A c.2751G>A (p.Gln917=) c.1797G>A (n.1797G>A) c.2G>A c.711G>A (p.Gln237=) c.253G>A c.2754G>A (p.Gln918=) c.2736G>A (p.Gln912=) c.2574G>A (p.Gln858=) c.2682G>A (p.Gln894=) c.2664G>A (p.Gln888=) c.2388G>A (p.Gln796=) n.2963G>A c.2556G>A (p.Gln852=) c.2370G>A (p.Gln790=) n.2966G>A c.2661G>A (p.Gln887=) c.2727G>A (p.Gln909=) c.2679G>A (p.Gln893=) c.2544G>A (p.Gln848=) | |
16 | g.28835596G>C | CA395408119 | ATXN2L | c.2733G>C (p.Gln911His) c.708G>C (p.Gln236His) n.3107G>C c.2751G>C (p.Gln917His) c.1797G>C (n.1797G>C) c.2G>C c.711G>C (p.Gln237His) c.253G>C c.2754G>C (p.Gln918His) c.2736G>C (p.Gln912His) c.2574G>C (p.Gln858His) c.2682G>C (p.Gln894His) c.2664G>C (p.Gln888His) c.2388G>C (p.Gln796His) n.2963G>C c.2556G>C (p.Gln852His) c.2370G>C (p.Gln790His) n.2966G>C c.2661G>C (p.Gln887His) c.2727G>C (p.Gln909His) c.2679G>C (p.Gln893His) c.2544G>C (p.Gln848His) | |
16 | g.28835596G>T | CA395408120 | ATXN2L | c.2733G>T (p.Gln911His) c.708G>T (p.Gln236His) n.3107G>T c.2751G>T (p.Gln917His) c.1797G>T (n.1797G>T) c.2G>T c.711G>T (p.Gln237His) c.253G>T c.2754G>T (p.Gln918His) c.2736G>T (p.Gln912His) c.2574G>T (p.Gln858His) c.2682G>T (p.Gln894His) c.2664G>T (p.Gln888His) c.2388G>T (p.Gln796His) n.2963G>T c.2556G>T (p.Gln852His) c.2370G>T (p.Gln790His) n.2966G>T c.2661G>T (p.Gln887His) c.2727G>T (p.Gln909His) c.2679G>T (p.Gln893His) c.2544G>T (p.Gln848His) | |
16 | g.28835597A= | CA2215806302 | ATXN2L | c.2734A= (p.Asn912=) c.709A= (p.Asn237=) n.3108A= c.2752A= (p.Asn918=) c.1798A= (n.1798A=) c.3A= c.712A= (p.Asn238=) c.254A= c.2755A= (p.Asn919=) c.2737A= (p.Asn913=) c.2575A= (p.Asn859=) c.2683A= (p.Asn895=) c.2665A= (p.Asn889=) c.2389A= (p.Asn797=) n.2964A= c.2557A= (p.Asn853=) c.2371A= (p.Asn791=) n.2967A= c.2662A= (p.Asn888=) c.2728A= (p.Asn910=) c.2680A= (p.Asn894=) c.2545A= (p.Asn849=) | |
16 | g.28835597A>C | CA395408122 | ATXN2L | c.2734A>C (p.Asn912His) c.709A>C (p.Asn237His) n.3108A>C c.2752A>C (p.Asn918His) c.1798A>C (n.1798A>C) c.3A>C c.712A>C (p.Asn238His) c.254A>C c.2755A>C (p.Asn919His) c.2737A>C (p.Asn913His) c.2575A>C (p.Asn859His) c.2683A>C (p.Asn895His) c.2665A>C (p.Asn889His) c.2389A>C (p.Asn797His) n.2964A>C c.2557A>C (p.Asn853His) c.2371A>C (p.Asn791His) n.2967A>C c.2662A>C (p.Asn888His) c.2728A>C (p.Asn910His) c.2680A>C (p.Asn894His) c.2545A>C (p.Asn849His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835597A>G | CA395408126 | ATXN2L | c.2734A>G (p.Asn912Asp) c.709A>G (p.Asn237Asp) n.3108A>G c.2752A>G (p.Asn918Asp) c.1798A>G (n.1798A>G) c.3A>G c.712A>G (p.Asn238Asp) c.254A>G c.2755A>G (p.Asn919Asp) c.2737A>G (p.Asn913Asp) c.2575A>G (p.Asn859Asp) c.2683A>G (p.Asn895Asp) c.2665A>G (p.Asn889Asp) c.2389A>G (p.Asn797Asp) n.2964A>G c.2557A>G (p.Asn853Asp) c.2371A>G (p.Asn791Asp) n.2967A>G c.2662A>G (p.Asn888Asp) c.2728A>G (p.Asn910Asp) c.2680A>G (p.Asn894Asp) c.2545A>G (p.Asn849Asp) | |
16 | g.28835597A>T | CA395408124 | ATXN2L | c.2734A>T (p.Asn912Tyr) c.709A>T (p.Asn237Tyr) n.3108A>T c.2752A>T (p.Asn918Tyr) c.1798A>T (n.1798A>T) c.3A>T c.712A>T (p.Asn238Tyr) c.254A>T c.2755A>T (p.Asn919Tyr) c.2737A>T (p.Asn913Tyr) c.2575A>T (p.Asn859Tyr) c.2683A>T (p.Asn895Tyr) c.2665A>T (p.Asn889Tyr) c.2389A>T (p.Asn797Tyr) n.2964A>T c.2557A>T (p.Asn853Tyr) c.2371A>T (p.Asn791Tyr) n.2967A>T c.2662A>T (p.Asn888Tyr) c.2728A>T (p.Asn910Tyr) c.2680A>T (p.Asn894Tyr) c.2545A>T (p.Asn849Tyr) | |
16 | g.28835598A>C | CA395408128 | ATXN2L | c.2735A>C (p.Asn912Thr) c.710A>C (p.Asn237Thr) n.3109A>C c.2753A>C (p.Asn918Thr) c.1799A>C (n.1799A>C) c.4A>C c.713A>C (p.Asn238Thr) c.255A>C c.2756A>C (p.Asn919Thr) c.2738A>C (p.Asn913Thr) c.2576A>C (p.Asn859Thr) c.2684A>C (p.Asn895Thr) c.2666A>C (p.Asn889Thr) c.2390A>C (p.Asn797Thr) n.2965A>C c.2558A>C (p.Asn853Thr) c.2372A>C (p.Asn791Thr) n.2968A>C c.2663A>C (p.Asn888Thr) c.2729A>C (p.Asn910Thr) c.2681A>C (p.Asn894Thr) c.2546A>C (p.Asn849Thr) | |
16 | g.28835598A>G | CA395408130 | ATXN2L | c.2735A>G (p.Asn912Ser) c.710A>G (p.Asn237Ser) n.3109A>G c.2753A>G (p.Asn918Ser) c.1799A>G (n.1799A>G) c.4A>G c.713A>G (p.Asn238Ser) c.255A>G c.2756A>G (p.Asn919Ser) c.2738A>G (p.Asn913Ser) c.2576A>G (p.Asn859Ser) c.2684A>G (p.Asn895Ser) c.2666A>G (p.Asn889Ser) c.2390A>G (p.Asn797Ser) n.2965A>G c.2558A>G (p.Asn853Ser) c.2372A>G (p.Asn791Ser) n.2968A>G c.2663A>G (p.Asn888Ser) c.2729A>G (p.Asn910Ser) c.2681A>G (p.Asn894Ser) c.2546A>G (p.Asn849Ser) | gnomAD v4 |
16 | g.28835598A>T | CA395408131 | ATXN2L | c.2735A>T (p.Asn912Ile) c.710A>T (p.Asn237Ile) n.3109A>T c.2753A>T (p.Asn918Ile) c.1799A>T (n.1799A>T) c.4A>T c.713A>T (p.Asn238Ile) c.255A>T c.2756A>T (p.Asn919Ile) c.2738A>T (p.Asn913Ile) c.2576A>T (p.Asn859Ile) c.2684A>T (p.Asn895Ile) c.2666A>T (p.Asn889Ile) c.2390A>T (p.Asn797Ile) n.2965A>T c.2558A>T (p.Asn853Ile) c.2372A>T (p.Asn791Ile) n.2968A>T c.2663A>T (p.Asn888Ile) c.2729A>T (p.Asn910Ile) c.2681A>T (p.Asn894Ile) c.2546A>T (p.Asn849Ile) | |
16 | g.28835599T>A | CA395408132 | ATXN2L | c.2736T>A (p.Asn912Lys) c.711T>A (p.Asn237Lys) n.3110T>A c.2754T>A (p.Asn918Lys) c.1800T>A (n.1800T>A) c.5T>A c.714T>A (p.Asn238Lys) c.256T>A c.2757T>A (p.Asn919Lys) c.2739T>A (p.Asn913Lys) c.2577T>A (p.Asn859Lys) c.2685T>A (p.Asn895Lys) c.2667T>A (p.Asn889Lys) c.2391T>A (p.Asn797Lys) n.2966T>A c.2559T>A (p.Asn853Lys) c.2373T>A (p.Asn791Lys) n.2969T>A c.2664T>A (p.Asn888Lys) c.2730T>A (p.Asn910Lys) c.2682T>A (p.Asn894Lys) c.2547T>A (p.Asn849Lys) | gnomAD v4 |
16 | g.28835599T>C | CA494868395 | ATXN2L | c.2736T>C (p.Asn912=) c.711T>C (p.Asn237=) n.3110T>C c.2754T>C (p.Asn918=) c.1800T>C (n.1800T>C) c.5T>C c.714T>C (p.Asn238=) c.256T>C c.2757T>C (p.Asn919=) c.2739T>C (p.Asn913=) c.2577T>C (p.Asn859=) c.2685T>C (p.Asn895=) c.2667T>C (p.Asn889=) c.2391T>C (p.Asn797=) n.2966T>C c.2559T>C (p.Asn853=) c.2373T>C (p.Asn791=) n.2969T>C c.2664T>C (p.Asn888=) c.2730T>C (p.Asn910=) c.2682T>C (p.Asn894=) c.2547T>C (p.Asn849=) | |
16 | g.28835599T>G | CA395408133 | ATXN2L | c.2736T>G (p.Asn912Lys) c.711T>G (p.Asn237Lys) n.3110T>G c.2754T>G (p.Asn918Lys) c.1800T>G (n.1800T>G) c.5T>G c.714T>G (p.Asn238Lys) c.256T>G c.2757T>G (p.Asn919Lys) c.2739T>G (p.Asn913Lys) c.2577T>G (p.Asn859Lys) c.2685T>G (p.Asn895Lys) c.2667T>G (p.Asn889Lys) c.2391T>G (p.Asn797Lys) n.2966T>G c.2559T>G (p.Asn853Lys) c.2373T>G (p.Asn791Lys) n.2969T>G c.2664T>G (p.Asn888Lys) c.2730T>G (p.Asn910Lys) c.2682T>G (p.Asn894Lys) c.2547T>G (p.Asn849Lys) | |
16 | g.28835600C>A | CA395408136 | ATXN2L | c.2737C>A (p.Leu913Met) c.712C>A (p.Leu238Met) n.3111C>A c.2755C>A (p.Leu919Met) c.1801C>A (n.1801C>A) c.6C>A c.715C>A (p.Leu239Met) c.257C>A c.2758C>A (p.Leu920Met) c.2740C>A (p.Leu914Met) c.2578C>A (p.Leu860Met) c.2686C>A (p.Leu896Met) c.2668C>A (p.Leu890Met) c.2392C>A (p.Leu798Met) n.2967C>A c.2560C>A (p.Leu854Met) c.2374C>A (p.Leu792Met) n.2970C>A c.2665C>A (p.Leu889Met) c.2731C>A (p.Leu911Met) c.2683C>A (p.Leu895Met) c.2548C>A (p.Leu850Met) | |
16 | g.28835600C= | CA2215806303 | ATXN2L | c.2737C= (p.Leu913=) c.712C= (p.Leu238=) n.3111C= c.2755C= (p.Leu919=) c.1801C= (n.1801C=) c.6C= c.715C= (p.Leu239=) c.257C= c.2758C= (p.Leu920=) c.2740C= (p.Leu914=) c.2578C= (p.Leu860=) c.2686C= (p.Leu896=) c.2668C= (p.Leu890=) c.2392C= (p.Leu798=) n.2967C= c.2560C= (p.Leu854=) c.2374C= (p.Leu792=) n.2970C= c.2665C= (p.Leu889=) c.2731C= (p.Leu911=) c.2683C= (p.Leu895=) c.2548C= (p.Leu850=) | |
16 | g.28835600C>G | CA395408137 | ATXN2L | c.2737C>G (p.Leu913Val) c.712C>G (p.Leu238Val) n.3111C>G c.2755C>G (p.Leu919Val) c.1801C>G (n.1801C>G) c.6C>G c.715C>G (p.Leu239Val) c.257C>G c.2758C>G (p.Leu920Val) c.2740C>G (p.Leu914Val) c.2578C>G (p.Leu860Val) c.2686C>G (p.Leu896Val) c.2668C>G (p.Leu890Val) c.2392C>G (p.Leu798Val) n.2967C>G c.2560C>G (p.Leu854Val) c.2374C>G (p.Leu792Val) n.2970C>G c.2665C>G (p.Leu889Val) c.2731C>G (p.Leu911Val) c.2683C>G (p.Leu895Val) c.2548C>G (p.Leu850Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28835600C>T | CA494868400 | ATXN2L | c.2737C>T (p.Leu913=) c.712C>T (p.Leu238=) n.3111C>T c.2755C>T (p.Leu919=) c.1801C>T (n.1801C>T) c.6C>T c.715C>T (p.Leu239=) c.257C>T c.2758C>T (p.Leu920=) c.2740C>T (p.Leu914=) c.2578C>T (p.Leu860=) c.2686C>T (p.Leu896=) c.2668C>T (p.Leu890=) c.2392C>T (p.Leu798=) n.2967C>T c.2560C>T (p.Leu854=) c.2374C>T (p.Leu792=) n.2970C>T c.2665C>T (p.Leu889=) c.2731C>T (p.Leu911=) c.2683C>T (p.Leu895=) c.2548C>T (p.Leu850=) | |
16 | g.28835601T>A | CA395408139 | ATXN2L | c.2738T>A (p.Leu913Gln) c.713T>A (p.Leu238Gln) n.3112T>A c.2756T>A (p.Leu919Gln) c.1802T>A (n.1802T>A) c.7T>A c.716T>A (p.Leu239Gln) c.258T>A c.2759T>A (p.Leu920Gln) c.2741T>A (p.Leu914Gln) c.2579T>A (p.Leu860Gln) c.2687T>A (p.Leu896Gln) c.2669T>A (p.Leu890Gln) c.2393T>A (p.Leu798Gln) n.2968T>A c.2561T>A (p.Leu854Gln) c.2375T>A (p.Leu792Gln) n.2971T>A c.2666T>A (p.Leu889Gln) c.2732T>A (p.Leu911Gln) c.2684T>A (p.Leu895Gln) c.2549T>A (p.Leu850Gln) | |
16 | g.28835601T>C | CA395408141 | ATXN2L | c.2738T>C (p.Leu913Pro) c.713T>C (p.Leu238Pro) n.3112T>C c.2756T>C (p.Leu919Pro) c.1802T>C (n.1802T>C) c.7T>C c.716T>C (p.Leu239Pro) c.258T>C c.2759T>C (p.Leu920Pro) c.2741T>C (p.Leu914Pro) c.2579T>C (p.Leu860Pro) c.2687T>C (p.Leu896Pro) c.2669T>C (p.Leu890Pro) c.2393T>C (p.Leu798Pro) n.2968T>C c.2561T>C (p.Leu854Pro) c.2375T>C (p.Leu792Pro) n.2971T>C c.2666T>C (p.Leu889Pro) c.2732T>C (p.Leu911Pro) c.2684T>C (p.Leu895Pro) c.2549T>C (p.Leu850Pro) | |
16 | g.28835601T>G | CA395408143 | ATXN2L | c.2738T>G (p.Leu913Arg) c.713T>G (p.Leu238Arg) n.3112T>G c.2756T>G (p.Leu919Arg) c.1802T>G (n.1802T>G) c.7T>G c.716T>G (p.Leu239Arg) c.258T>G c.2759T>G (p.Leu920Arg) c.2741T>G (p.Leu914Arg) c.2579T>G (p.Leu860Arg) c.2687T>G (p.Leu896Arg) c.2669T>G (p.Leu890Arg) c.2393T>G (p.Leu798Arg) n.2968T>G c.2561T>G (p.Leu854Arg) c.2375T>G (p.Leu792Arg) n.2971T>G c.2666T>G (p.Leu889Arg) c.2732T>G (p.Leu911Arg) c.2684T>G (p.Leu895Arg) c.2549T>G (p.Leu850Arg) | |
16 | g.28835602G>A | CA494868407 | ATXN2L | c.2739G>A (p.Leu913=) c.714G>A (p.Leu238=) n.3113G>A c.2757G>A (p.Leu919=) c.1803G>A (n.1803G>A) c.8G>A c.717G>A (p.Leu239=) c.259G>A c.2760G>A (p.Leu920=) c.2742G>A (p.Leu914=) c.2580G>A (p.Leu860=) c.2688G>A (p.Leu896=) c.2670G>A (p.Leu890=) c.2394G>A (p.Leu798=) n.2969G>A c.2562G>A (p.Leu854=) c.2376G>A (p.Leu792=) n.2972G>A c.2667G>A (p.Leu889=) c.2733G>A (p.Leu911=) c.2685G>A (p.Leu895=) c.2550G>A (p.Leu850=) | |
16 | g.28835602G>C | CA494868408 | ATXN2L | c.2739G>C (p.Leu913=) c.714G>C (p.Leu238=) n.3113G>C c.2757G>C (p.Leu919=) c.1803G>C (n.1803G>C) c.8G>C c.717G>C (p.Leu239=) c.259G>C c.2760G>C (p.Leu920=) c.2742G>C (p.Leu914=) c.2580G>C (p.Leu860=) c.2688G>C (p.Leu896=) c.2670G>C (p.Leu890=) c.2394G>C (p.Leu798=) n.2969G>C c.2562G>C (p.Leu854=) c.2376G>C (p.Leu792=) n.2972G>C c.2667G>C (p.Leu889=) c.2733G>C (p.Leu911=) c.2685G>C (p.Leu895=) c.2550G>C (p.Leu850=) | |
16 | g.28835602G>T | CA494868409 | ATXN2L | c.2739G>T (p.Leu913=) c.714G>T (p.Leu238=) n.3113G>T c.2757G>T (p.Leu919=) c.1803G>T (n.1803G>T) c.8G>T c.717G>T (p.Leu239=) c.259G>T c.2760G>T (p.Leu920=) c.2742G>T (p.Leu914=) c.2580G>T (p.Leu860=) c.2688G>T (p.Leu896=) c.2670G>T (p.Leu890=) c.2394G>T (p.Leu798=) n.2969G>T c.2562G>T (p.Leu854=) c.2376G>T (p.Leu792=) n.2972G>T c.2667G>T (p.Leu889=) c.2733G>T (p.Leu911=) c.2685G>T (p.Leu895=) c.2550G>T (p.Leu850=) | |
16 | g.28835603T>A | CA395408147 | ATXN2L | c.2740T>A (p.Tyr914Asn) c.715T>A (p.Tyr239Asn) n.3114T>A c.2758T>A (p.Tyr920Asn) c.1804T>A (n.1804T>A) c.9T>A c.718T>A (p.Tyr240Asn) c.260T>A c.2761T>A (p.Tyr921Asn) c.2743T>A (p.Tyr915Asn) c.2581T>A (p.Tyr861Asn) c.2689T>A (p.Tyr897Asn) c.2671T>A (p.Tyr891Asn) c.2395T>A (p.Tyr799Asn) n.2970T>A c.2563T>A (p.Tyr855Asn) c.2377T>A (p.Tyr793Asn) n.2973T>A c.2668T>A (p.Tyr890Asn) c.2734T>A (p.Tyr912Asn) c.2686T>A (p.Tyr896Asn) c.2551T>A (p.Tyr851Asn) | |
16 | g.28835603T>C | CA395408148 | ATXN2L | c.2740T>C (p.Tyr914His) c.715T>C (p.Tyr239His) n.3114T>C c.2758T>C (p.Tyr920His) c.1804T>C (n.1804T>C) c.9T>C c.718T>C (p.Tyr240His) c.260T>C c.2761T>C (p.Tyr921His) c.2743T>C (p.Tyr915His) c.2581T>C (p.Tyr861His) c.2689T>C (p.Tyr897His) c.2671T>C (p.Tyr891His) c.2395T>C (p.Tyr799His) n.2970T>C c.2563T>C (p.Tyr855His) c.2377T>C (p.Tyr793His) n.2973T>C c.2668T>C (p.Tyr890His) c.2734T>C (p.Tyr912His) c.2686T>C (p.Tyr896His) c.2551T>C (p.Tyr851His) | |
16 | g.28835603T>G | CA395408145 | ATXN2L | c.2740T>G (p.Tyr914Asp) c.715T>G (p.Tyr239Asp) n.3114T>G c.2758T>G (p.Tyr920Asp) c.1804T>G (n.1804T>G) c.9T>G c.718T>G (p.Tyr240Asp) c.260T>G c.2761T>G (p.Tyr921Asp) c.2743T>G (p.Tyr915Asp) c.2581T>G (p.Tyr861Asp) c.2689T>G (p.Tyr897Asp) c.2671T>G (p.Tyr891Asp) c.2395T>G (p.Tyr799Asp) n.2970T>G c.2563T>G (p.Tyr855Asp) c.2377T>G (p.Tyr793Asp) n.2973T>G c.2668T>G (p.Tyr890Asp) c.2734T>G (p.Tyr912Asp) c.2686T>G (p.Tyr896Asp) c.2551T>G (p.Tyr851Asp) | |
16 | g.28835604A>C | CA395408150 | ATXN2L | c.2741A>C (p.Tyr914Ser) c.716A>C (p.Tyr239Ser) n.3115A>C c.2759A>C (p.Tyr920Ser) c.1805A>C (n.1805A>C) c.10A>C c.719A>C (p.Tyr240Ser) c.261A>C c.2762A>C (p.Tyr921Ser) c.2744A>C (p.Tyr915Ser) c.2582A>C (p.Tyr861Ser) c.2690A>C (p.Tyr897Ser) c.2672A>C (p.Tyr891Ser) c.2396A>C (p.Tyr799Ser) n.2971A>C c.2564A>C (p.Tyr855Ser) c.2378A>C (p.Tyr793Ser) n.2974A>C c.2669A>C (p.Tyr890Ser) c.2735A>C (p.Tyr912Ser) c.2687A>C (p.Tyr896Ser) c.2552A>C (p.Tyr851Ser) | |
16 | g.28835604A>G | CA395408152 | ATXN2L | c.2741A>G (p.Tyr914Cys) c.716A>G (p.Tyr239Cys) n.3115A>G c.2759A>G (p.Tyr920Cys) c.1805A>G (n.1805A>G) c.10A>G c.719A>G (p.Tyr240Cys) c.261A>G c.2762A>G (p.Tyr921Cys) c.2744A>G (p.Tyr915Cys) c.2582A>G (p.Tyr861Cys) c.2690A>G (p.Tyr897Cys) c.2672A>G (p.Tyr891Cys) c.2396A>G (p.Tyr799Cys) n.2971A>G c.2564A>G (p.Tyr855Cys) c.2378A>G (p.Tyr793Cys) n.2974A>G c.2669A>G (p.Tyr890Cys) c.2735A>G (p.Tyr912Cys) c.2687A>G (p.Tyr896Cys) c.2552A>G (p.Tyr851Cys) | |
16 | g.28835604A>T | CA395408154 | ATXN2L | c.2741A>T (p.Tyr914Phe) c.716A>T (p.Tyr239Phe) n.3115A>T c.2759A>T (p.Tyr920Phe) c.1805A>T (n.1805A>T) c.10A>T c.719A>T (p.Tyr240Phe) c.261A>T c.2762A>T (p.Tyr921Phe) c.2744A>T (p.Tyr915Phe) c.2582A>T (p.Tyr861Phe) c.2690A>T (p.Tyr897Phe) c.2672A>T (p.Tyr891Phe) c.2396A>T (p.Tyr799Phe) n.2971A>T c.2564A>T (p.Tyr855Phe) c.2378A>T (p.Tyr793Phe) n.2974A>T c.2669A>T (p.Tyr890Phe) c.2735A>T (p.Tyr912Phe) c.2687A>T (p.Tyr896Phe) c.2552A>T (p.Tyr851Phe) | |
16 | g.28835605C>A | CA395408156 | ATXN2L | c.2742C>A (p.Tyr914Ter) c.717C>A (p.Tyr239Ter) n.3116C>A c.2760C>A (p.Tyr920Ter) c.1806C>A (n.1806C>A) c.11C>A c.720C>A (p.Tyr240Ter) c.262C>A c.2763C>A (p.Tyr921Ter) c.2745C>A (p.Tyr915Ter) c.2583C>A (p.Tyr861Ter) c.2691C>A (p.Tyr897Ter) c.2673C>A (p.Tyr891Ter) c.2397C>A (p.Tyr799Ter) n.2972C>A c.2565C>A (p.Tyr855Ter) c.2379C>A (p.Tyr793Ter) n.2975C>A c.2670C>A (p.Tyr890Ter) c.2736C>A (p.Tyr912Ter) c.2688C>A (p.Tyr896Ter) c.2553C>A (p.Tyr851Ter) | |
16 | g.28835605C>G | CA395408158 | ATXN2L | c.2742C>G (p.Tyr914Ter) c.717C>G (p.Tyr239Ter) n.3116C>G c.2760C>G (p.Tyr920Ter) c.1806C>G (n.1806C>G) c.11C>G c.720C>G (p.Tyr240Ter) c.262C>G c.2763C>G (p.Tyr921Ter) c.2745C>G (p.Tyr915Ter) c.2583C>G (p.Tyr861Ter) c.2691C>G (p.Tyr897Ter) c.2673C>G (p.Tyr891Ter) c.2397C>G (p.Tyr799Ter) n.2972C>G c.2565C>G (p.Tyr855Ter) c.2379C>G (p.Tyr793Ter) n.2975C>G c.2670C>G (p.Tyr890Ter) c.2736C>G (p.Tyr912Ter) c.2688C>G (p.Tyr896Ter) c.2553C>G (p.Tyr851Ter) | |
16 | g.28835605C>T | CA494868415 | ATXN2L | c.2742C>T (p.Tyr914=) c.717C>T (p.Tyr239=) n.3116C>T c.2760C>T (p.Tyr920=) c.1806C>T (n.1806C>T) c.11C>T c.720C>T (p.Tyr240=) c.262C>T c.2763C>T (p.Tyr921=) c.2745C>T (p.Tyr915=) c.2583C>T (p.Tyr861=) c.2691C>T (p.Tyr897=) c.2673C>T (p.Tyr891=) c.2397C>T (p.Tyr799=) n.2972C>T c.2565C>T (p.Tyr855=) c.2379C>T (p.Tyr793=) n.2975C>T c.2670C>T (p.Tyr890=) c.2736C>T (p.Tyr912=) c.2688C>T (p.Tyr896=) c.2553C>T (p.Tyr851=) | gnomAD v4 |
16 | g.28835606C>A | CA395408159 | ATXN2L | c.2743C>A (p.His915Asn) c.718C>A (p.His240Asn) n.3117C>A c.2761C>A (p.His921Asn) c.1807C>A (n.1807C>A) c.12C>A c.721C>A (p.His241Asn) c.263C>A c.2764C>A (p.His922Asn) c.2746C>A (p.His916Asn) c.2584C>A (p.His862Asn) c.2692C>A (p.His898Asn) c.2674C>A (p.His892Asn) c.2398C>A (p.His800Asn) n.2973C>A c.2566C>A (p.His856Asn) c.2380C>A (p.His794Asn) n.2976C>A c.2671C>A (p.His891Asn) c.2737C>A (p.His913Asn) c.2689C>A (p.His897Asn) c.2554C>A (p.His852Asn) | |
16 | g.28835606C>G | CA395408161 | ATXN2L | c.2743C>G (p.His915Asp) c.718C>G (p.His240Asp) n.3117C>G c.2761C>G (p.His921Asp) c.1807C>G (n.1807C>G) c.12C>G c.721C>G (p.His241Asp) c.263C>G c.2764C>G (p.His922Asp) c.2746C>G (p.His916Asp) c.2584C>G (p.His862Asp) c.2692C>G (p.His898Asp) c.2674C>G (p.His892Asp) c.2398C>G (p.His800Asp) n.2973C>G c.2566C>G (p.His856Asp) c.2380C>G (p.His794Asp) n.2976C>G c.2671C>G (p.His891Asp) c.2737C>G (p.His913Asp) c.2689C>G (p.His897Asp) c.2554C>G (p.His852Asp) | |
16 | g.28835606C>T | CA395408162 | ATXN2L | c.2743C>T (p.His915Tyr) c.718C>T (p.His240Tyr) n.3117C>T c.2761C>T (p.His921Tyr) c.1807C>T (n.1807C>T) c.12C>T c.721C>T (p.His241Tyr) c.263C>T c.2764C>T (p.His922Tyr) c.2746C>T (p.His916Tyr) c.2584C>T (p.His862Tyr) c.2692C>T (p.His898Tyr) c.2674C>T (p.His892Tyr) c.2398C>T (p.His800Tyr) n.2973C>T c.2566C>T (p.His856Tyr) c.2380C>T (p.His794Tyr) n.2976C>T c.2671C>T (p.His891Tyr) c.2737C>T (p.His913Tyr) c.2689C>T (p.His897Tyr) c.2554C>T (p.His852Tyr) | gnomAD v4 |
16 | g.28835607A>C | CA395408164 | ATXN2L | c.2744A>C (p.His915Pro) c.719A>C (p.His240Pro) n.3118A>C c.2762A>C (p.His921Pro) c.1808A>C (n.1808A>C) c.13A>C c.722A>C (p.His241Pro) c.264A>C c.2765A>C (p.His922Pro) c.2747A>C (p.His916Pro) c.2585A>C (p.His862Pro) c.2693A>C (p.His898Pro) c.2675A>C (p.His892Pro) c.2399A>C (p.His800Pro) n.2974A>C c.2567A>C (p.His856Pro) c.2381A>C (p.His794Pro) n.2977A>C c.2672A>C (p.His891Pro) c.2738A>C (p.His913Pro) c.2690A>C (p.His897Pro) c.2555A>C (p.His852Pro) | |
16 | g.28835607A>G | CA395408166 | ATXN2L | c.2744A>G (p.His915Arg) c.719A>G (p.His240Arg) n.3118A>G c.2762A>G (p.His921Arg) c.1808A>G (n.1808A>G) c.13A>G c.722A>G (p.His241Arg) c.264A>G c.2765A>G (p.His922Arg) c.2747A>G (p.His916Arg) c.2585A>G (p.His862Arg) c.2693A>G (p.His898Arg) c.2675A>G (p.His892Arg) c.2399A>G (p.His800Arg) n.2974A>G c.2567A>G (p.His856Arg) c.2381A>G (p.His794Arg) n.2977A>G c.2672A>G (p.His891Arg) c.2738A>G (p.His913Arg) c.2690A>G (p.His897Arg) c.2555A>G (p.His852Arg) | |
16 | g.28835607A>T | CA395408167 | ATXN2L | c.2744A>T (p.His915Leu) c.719A>T (p.His240Leu) n.3118A>T c.2762A>T (p.His921Leu) c.1808A>T (n.1808A>T) c.13A>T c.722A>T (p.His241Leu) c.264A>T c.2765A>T (p.His922Leu) c.2747A>T (p.His916Leu) c.2585A>T (p.His862Leu) c.2693A>T (p.His898Leu) c.2675A>T (p.His892Leu) c.2399A>T (p.His800Leu) n.2974A>T c.2567A>T (p.His856Leu) c.2381A>T (p.His794Leu) n.2977A>T c.2672A>T (p.His891Leu) c.2738A>T (p.His913Leu) c.2690A>T (p.His897Leu) c.2555A>T (p.His852Leu) | |
16 | g.28835608C>A | CA395408169 | ATXN2L | c.2745C>A (p.His915Gln) c.720C>A (p.His240Gln) n.3119C>A c.2763C>A (p.His921Gln) c.1809C>A (n.1809C>A) c.14C>A c.723C>A (p.His241Gln) c.265C>A c.2766C>A (p.His922Gln) c.2748C>A (p.His916Gln) c.2586C>A (p.His862Gln) c.2694C>A (p.His898Gln) c.2676C>A (p.His892Gln) c.2400C>A (p.His800Gln) n.2975C>A c.2568C>A (p.His856Gln) c.2382C>A (p.His794Gln) n.2978C>A c.2673C>A (p.His891Gln) c.2739C>A (p.His913Gln) c.2691C>A (p.His897Gln) c.2556C>A (p.His852Gln) | |
16 | g.28835608C>G | CA395408171 | ATXN2L | c.2745C>G (p.His915Gln) c.720C>G (p.His240Gln) n.3119C>G c.2763C>G (p.His921Gln) c.1809C>G (n.1809C>G) c.14C>G c.723C>G (p.His241Gln) c.265C>G c.2766C>G (p.His922Gln) c.2748C>G (p.His916Gln) c.2586C>G (p.His862Gln) c.2694C>G (p.His898Gln) c.2676C>G (p.His892Gln) c.2400C>G (p.His800Gln) n.2975C>G c.2568C>G (p.His856Gln) c.2382C>G (p.His794Gln) n.2978C>G c.2673C>G (p.His891Gln) c.2739C>G (p.His913Gln) c.2691C>G (p.His897Gln) c.2556C>G (p.His852Gln) | |
16 | g.28835608C>T | CA494868471 | ATXN2L | c.2745C>T (p.His915=) c.720C>T (p.His240=) n.3119C>T c.2763C>T (p.His921=) c.1809C>T (n.1809C>T) c.14C>T c.723C>T (p.His241=) c.265C>T c.2766C>T (p.His922=) c.2748C>T (p.His916=) c.2586C>T (p.His862=) c.2694C>T (p.His898=) c.2676C>T (p.His892=) c.2400C>T (p.His800=) n.2975C>T c.2568C>T (p.His856=) c.2382C>T (p.His794=) n.2978C>T c.2673C>T (p.His891=) c.2739C>T (p.His913=) c.2691C>T (p.His897=) c.2556C>T (p.His852=) | gnomAD v4 |
16 | g.28835609C>A | CA395408176 | ATXN2L | c.2746C>A (p.Pro916Thr) c.721C>A (p.Pro241Thr) n.3120C>A c.2764C>A (p.Pro922Thr) c.1810C>A (n.1810C>A) c.15C>A c.724C>A (p.Pro242Thr) c.266C>A c.2767C>A (p.Pro923Thr) c.2749C>A (p.Pro917Thr) c.2587C>A (p.Pro863Thr) c.2695C>A (p.Pro899Thr) c.2677C>A (p.Pro893Thr) c.2401C>A (p.Pro801Thr) n.2976C>A c.2569C>A (p.Pro857Thr) c.2383C>A (p.Pro795Thr) n.2979C>A c.2674C>A (p.Pro892Thr) c.2740C>A (p.Pro914Thr) c.2692C>A (p.Pro898Thr) c.2557C>A (p.Pro853Thr) | |
16 | g.28835609C= | CA2215806305 | ATXN2L | c.2746C= (p.Pro916=) c.721C= (p.Pro241=) n.3120C= c.2764C= (p.Pro922=) c.1810C= (n.1810C=) c.15C= c.724C= (p.Pro242=) c.266C= c.2767C= (p.Pro923=) c.2749C= (p.Pro917=) c.2587C= (p.Pro863=) c.2695C= (p.Pro899=) c.2677C= (p.Pro893=) c.2401C= (p.Pro801=) n.2976C= c.2569C= (p.Pro857=) c.2383C= (p.Pro795=) n.2979C= c.2674C= (p.Pro892=) c.2740C= (p.Pro914=) c.2692C= (p.Pro898=) c.2557C= (p.Pro853=) | |
16 | g.28835609C>G | CA395408174 | ATXN2L | c.2746C>G (p.Pro916Ala) c.721C>G (p.Pro241Ala) n.3120C>G c.2764C>G (p.Pro922Ala) c.1810C>G (n.1810C>G) c.15C>G c.724C>G (p.Pro242Ala) c.266C>G c.2767C>G (p.Pro923Ala) c.2749C>G (p.Pro917Ala) c.2587C>G (p.Pro863Ala) c.2695C>G (p.Pro899Ala) c.2677C>G (p.Pro893Ala) c.2401C>G (p.Pro801Ala) n.2976C>G c.2569C>G (p.Pro857Ala) c.2383C>G (p.Pro795Ala) n.2979C>G c.2674C>G (p.Pro892Ala) c.2740C>G (p.Pro914Ala) c.2692C>G (p.Pro898Ala) c.2557C>G (p.Pro853Ala) | gnomAD v4 |
16 | g.28835609C>T | CA7985083 | ATXN2L | c.2746C>T (p.Pro916Ser) c.721C>T (p.Pro241Ser) n.3120C>T c.2764C>T (p.Pro922Ser) c.1810C>T (n.1810C>T) c.15C>T c.724C>T (p.Pro242Ser) c.266C>T c.2767C>T (p.Pro923Ser) c.2749C>T (p.Pro917Ser) c.2587C>T (p.Pro863Ser) c.2695C>T (p.Pro899Ser) c.2677C>T (p.Pro893Ser) c.2401C>T (p.Pro801Ser) n.2976C>T c.2569C>T (p.Pro857Ser) c.2383C>T (p.Pro795Ser) n.2979C>T c.2674C>T (p.Pro892Ser) c.2740C>T (p.Pro914Ser) c.2692C>T (p.Pro898Ser) c.2557C>T (p.Pro853Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835610C>A | CA395408177 | ATXN2L | c.2747C>A (p.Pro916Gln) c.722C>A (p.Pro241Gln) n.3121C>A c.2765C>A (p.Pro922Gln) c.1811C>A (n.1811C>A) c.16C>A c.725C>A (p.Pro242Gln) c.267C>A c.2768C>A (p.Pro923Gln) c.2750C>A (p.Pro917Gln) c.2588C>A (p.Pro863Gln) c.2696C>A (p.Pro899Gln) c.2678C>A (p.Pro893Gln) c.2402C>A (p.Pro801Gln) n.2977C>A c.2570C>A (p.Pro857Gln) c.2384C>A (p.Pro795Gln) n.2980C>A c.2675C>A (p.Pro892Gln) c.2741C>A (p.Pro914Gln) c.2693C>A (p.Pro898Gln) c.2558C>A (p.Pro853Gln) | |
16 | g.28835610C>G | CA395408179 | ATXN2L | c.2747C>G (p.Pro916Arg) c.722C>G (p.Pro241Arg) n.3121C>G c.2765C>G (p.Pro922Arg) c.1811C>G (n.1811C>G) c.16C>G c.725C>G (p.Pro242Arg) c.267C>G c.2768C>G (p.Pro923Arg) c.2750C>G (p.Pro917Arg) c.2588C>G (p.Pro863Arg) c.2696C>G (p.Pro899Arg) c.2678C>G (p.Pro893Arg) c.2402C>G (p.Pro801Arg) n.2977C>G c.2570C>G (p.Pro857Arg) c.2384C>G (p.Pro795Arg) n.2980C>G c.2675C>G (p.Pro892Arg) c.2741C>G (p.Pro914Arg) c.2693C>G (p.Pro898Arg) c.2558C>G (p.Pro853Arg) | |
16 | g.28835610C>T | CA395408181 | ATXN2L | c.2747C>T (p.Pro916Leu) c.722C>T (p.Pro241Leu) n.3121C>T c.2765C>T (p.Pro922Leu) c.1811C>T (n.1811C>T) c.16C>T c.725C>T (p.Pro242Leu) c.267C>T c.2768C>T (p.Pro923Leu) c.2750C>T (p.Pro917Leu) c.2588C>T (p.Pro863Leu) c.2696C>T (p.Pro899Leu) c.2678C>T (p.Pro893Leu) c.2402C>T (p.Pro801Leu) n.2977C>T c.2570C>T (p.Pro857Leu) c.2384C>T (p.Pro795Leu) n.2980C>T c.2675C>T (p.Pro892Leu) c.2741C>T (p.Pro914Leu) c.2693C>T (p.Pro898Leu) c.2558C>T (p.Pro853Leu) | |
16 | g.28835611A>C | CA494868523 | ATXN2L | c.2748A>C (p.Pro916=) c.723A>C (p.Pro241=) n.3122A>C c.2766A>C (p.Pro922=) c.1812A>C (n.1812A>C) c.17A>C c.726A>C (p.Pro242=) c.268A>C c.2769A>C (p.Pro923=) c.2751A>C (p.Pro917=) c.2589A>C (p.Pro863=) c.2697A>C (p.Pro899=) c.2679A>C (p.Pro893=) c.2403A>C (p.Pro801=) n.2978A>C c.2571A>C (p.Pro857=) c.2385A>C (p.Pro795=) n.2981A>C c.2676A>C (p.Pro892=) c.2742A>C (p.Pro914=) c.2694A>C (p.Pro898=) c.2559A>C (p.Pro853=) | |
16 | g.28835611A>G | CA494868526 | ATXN2L | c.2748A>G (p.Pro916=) c.723A>G (p.Pro241=) n.3122A>G c.2766A>G (p.Pro922=) c.1812A>G (n.1812A>G) c.17A>G c.726A>G (p.Pro242=) c.268A>G c.2769A>G (p.Pro923=) c.2751A>G (p.Pro917=) c.2589A>G (p.Pro863=) c.2697A>G (p.Pro899=) c.2679A>G (p.Pro893=) c.2403A>G (p.Pro801=) n.2978A>G c.2571A>G (p.Pro857=) c.2385A>G (p.Pro795=) n.2981A>G c.2676A>G (p.Pro892=) c.2742A>G (p.Pro914=) c.2694A>G (p.Pro898=) c.2559A>G (p.Pro853=) | |
16 | g.28835611A>T | CA494868529 | ATXN2L | c.2748A>T (p.Pro916=) c.723A>T (p.Pro241=) n.3122A>T c.2766A>T (p.Pro922=) c.1812A>T (n.1812A>T) c.17A>T c.726A>T (p.Pro242=) c.268A>T c.2769A>T (p.Pro923=) c.2751A>T (p.Pro917=) c.2589A>T (p.Pro863=) c.2697A>T (p.Pro899=) c.2679A>T (p.Pro893=) c.2403A>T (p.Pro801=) n.2978A>T c.2571A>T (p.Pro857=) c.2385A>T (p.Pro795=) n.2981A>T c.2676A>T (p.Pro892=) c.2742A>T (p.Pro914=) c.2694A>T (p.Pro898=) c.2559A>T (p.Pro853=) | |
16 | g.28835612G>A | CA395408183 | ATXN2L | c.2749G>A (p.Gly917Arg) c.724G>A (p.Gly242Arg) n.3123G>A c.2767G>A (p.Gly923Arg) c.1813G>A (n.1813G>A) c.18G>A c.727G>A (p.Gly243Arg) c.269G>A c.2770G>A (p.Gly924Arg) c.2752G>A (p.Gly918Arg) c.2590G>A (p.Gly864Arg) c.2698G>A (p.Gly900Arg) c.2680G>A (p.Gly894Arg) c.2404G>A (p.Gly802Arg) n.2979G>A c.2572G>A (p.Gly858Arg) c.2386G>A (p.Gly796Arg) n.2982G>A c.2677G>A (p.Gly893Arg) c.2743G>A (p.Gly915Arg) c.2695G>A (p.Gly899Arg) c.2560G>A (p.Gly854Arg) | |
16 | g.28835612G>C | CA395408184 | ATXN2L | c.2749G>C (p.Gly917Arg) c.724G>C (p.Gly242Arg) n.3123G>C c.2767G>C (p.Gly923Arg) c.1813G>C (n.1813G>C) c.18G>C c.727G>C (p.Gly243Arg) c.269G>C c.2770G>C (p.Gly924Arg) c.2752G>C (p.Gly918Arg) c.2590G>C (p.Gly864Arg) c.2698G>C (p.Gly900Arg) c.2680G>C (p.Gly894Arg) c.2404G>C (p.Gly802Arg) n.2979G>C c.2572G>C (p.Gly858Arg) c.2386G>C (p.Gly796Arg) n.2982G>C c.2677G>C (p.Gly893Arg) c.2743G>C (p.Gly915Arg) c.2695G>C (p.Gly899Arg) c.2560G>C (p.Gly854Arg) | gnomAD v4 |
16 | g.28835612G>T | CA395408186 | ATXN2L | c.2749G>T (p.Gly917Trp) c.724G>T (p.Gly242Trp) n.3123G>T c.2767G>T (p.Gly923Trp) c.1813G>T (n.1813G>T) c.18G>T c.727G>T (p.Gly243Trp) c.269G>T c.2770G>T (p.Gly924Trp) c.2752G>T (p.Gly918Trp) c.2590G>T (p.Gly864Trp) c.2698G>T (p.Gly900Trp) c.2680G>T (p.Gly894Trp) c.2404G>T (p.Gly802Trp) n.2979G>T c.2572G>T (p.Gly858Trp) c.2386G>T (p.Gly796Trp) n.2982G>T c.2677G>T (p.Gly893Trp) c.2743G>T (p.Gly915Trp) c.2695G>T (p.Gly899Trp) c.2560G>T (p.Gly854Trp) | |
16 | g.28835613G>A | CA395408188 | ATXN2L | c.2750G>A (p.Gly917Glu) c.725G>A (p.Gly242Glu) n.3124G>A c.2768G>A (p.Gly923Glu) c.1814G>A (n.1814G>A) c.19G>A c.728G>A (p.Gly243Glu) c.270G>A c.2771G>A (p.Gly924Glu) c.2753G>A (p.Gly918Glu) c.2591G>A (p.Gly864Glu) c.2699G>A (p.Gly900Glu) c.2681G>A (p.Gly894Glu) c.2405G>A (p.Gly802Glu) n.2980G>A c.2573G>A (p.Gly858Glu) c.2387G>A (p.Gly796Glu) n.2983G>A c.2678G>A (p.Gly893Glu) c.2744G>A (p.Gly915Glu) c.2696G>A (p.Gly899Glu) c.2561G>A (p.Gly854Glu) | |
16 | g.28835613G>C | CA395408189 | ATXN2L | c.2750G>C (p.Gly917Ala) c.725G>C (p.Gly242Ala) n.3124G>C c.2768G>C (p.Gly923Ala) c.1814G>C (n.1814G>C) c.19G>C c.728G>C (p.Gly243Ala) c.270G>C c.2771G>C (p.Gly924Ala) c.2753G>C (p.Gly918Ala) c.2591G>C (p.Gly864Ala) c.2699G>C (p.Gly900Ala) c.2681G>C (p.Gly894Ala) c.2405G>C (p.Gly802Ala) n.2980G>C c.2573G>C (p.Gly858Ala) c.2387G>C (p.Gly796Ala) n.2983G>C c.2678G>C (p.Gly893Ala) c.2744G>C (p.Gly915Ala) c.2696G>C (p.Gly899Ala) c.2561G>C (p.Gly854Ala) | |
16 | g.28835613G= | CA2215806306 | ATXN2L | c.2750G= (p.Gly917=) c.725G= (p.Gly242=) n.3124G= c.2768G= (p.Gly923=) c.1814G= (n.1814G=) c.19G= c.728G= (p.Gly243=) c.270G= c.2771G= (p.Gly924=) c.2753G= (p.Gly918=) c.2591G= (p.Gly864=) c.2699G= (p.Gly900=) c.2681G= (p.Gly894=) c.2405G= (p.Gly802=) n.2980G= c.2573G= (p.Gly858=) c.2387G= (p.Gly796=) n.2983G= c.2678G= (p.Gly893=) c.2744G= (p.Gly915=) c.2696G= (p.Gly899=) c.2561G= (p.Gly854=) | |
16 | g.28835613G>T | CA7985084 | ATXN2L | c.2750G>T (p.Gly917Val) c.725G>T (p.Gly242Val) n.3124G>T c.2768G>T (p.Gly923Val) c.1814G>T (n.1814G>T) c.19G>T c.728G>T (p.Gly243Val) c.270G>T c.2771G>T (p.Gly924Val) c.2753G>T (p.Gly918Val) c.2591G>T (p.Gly864Val) c.2699G>T (p.Gly900Val) c.2681G>T (p.Gly894Val) c.2405G>T (p.Gly802Val) n.2980G>T c.2573G>T (p.Gly858Val) c.2387G>T (p.Gly796Val) n.2983G>T c.2678G>T (p.Gly893Val) c.2744G>T (p.Gly915Val) c.2696G>T (p.Gly899Val) c.2561G>T (p.Gly854Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835614G>A | CA7985085 | ATXN2L | c.2751G>A (p.Gly917=) c.726G>A (p.Gly242=) n.3125G>A c.2769G>A (p.Gly923=) c.1815G>A (n.1815G>A) c.20G>A c.729G>A (p.Gly243=) c.271G>A c.2772G>A (p.Gly924=) c.2754G>A (p.Gly918=) c.2592G>A (p.Gly864=) c.2700G>A (p.Gly900=) c.2682G>A (p.Gly894=) c.2406G>A (p.Gly802=) n.2981G>A c.2574G>A (p.Gly858=) c.2388G>A (p.Gly796=) n.2984G>A c.2679G>A (p.Gly893=) c.2745G>A (p.Gly915=) c.2697G>A (p.Gly899=) c.2562G>A (p.Gly854=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835614G>C | CA494868544 | ATXN2L | c.2751G>C (p.Gly917=) c.726G>C (p.Gly242=) n.3125G>C c.2769G>C (p.Gly923=) c.1815G>C (n.1815G>C) c.20G>C c.729G>C (p.Gly243=) c.271G>C c.2772G>C (p.Gly924=) c.2754G>C (p.Gly918=) c.2592G>C (p.Gly864=) c.2700G>C (p.Gly900=) c.2682G>C (p.Gly894=) c.2406G>C (p.Gly802=) n.2981G>C c.2574G>C (p.Gly858=) c.2388G>C (p.Gly796=) n.2984G>C c.2679G>C (p.Gly893=) c.2745G>C (p.Gly915=) c.2697G>C (p.Gly899=) c.2562G>C (p.Gly854=) | |
16 | g.28835614G= | CA2215806308 | ATXN2L | c.2751G= (p.Gly917=) c.726G= (p.Gly242=) n.3125G= c.2769G= (p.Gly923=) c.1815G= (n.1815G=) c.20G= c.729G= (p.Gly243=) c.271G= c.2772G= (p.Gly924=) c.2754G= (p.Gly918=) c.2592G= (p.Gly864=) c.2700G= (p.Gly900=) c.2682G= (p.Gly894=) c.2406G= (p.Gly802=) n.2981G= c.2574G= (p.Gly858=) c.2388G= (p.Gly796=) n.2984G= c.2679G= (p.Gly893=) c.2745G= (p.Gly915=) c.2697G= (p.Gly899=) c.2562G= (p.Gly854=) | |
16 | g.28835614G>T | CA494868547 | ATXN2L | c.2751G>T (p.Gly917=) c.726G>T (p.Gly242=) n.3125G>T c.2769G>T (p.Gly923=) c.1815G>T (n.1815G>T) c.20G>T c.729G>T (p.Gly243=) c.271G>T c.2772G>T (p.Gly924=) c.2754G>T (p.Gly918=) c.2592G>T (p.Gly864=) c.2700G>T (p.Gly900=) c.2682G>T (p.Gly894=) c.2406G>T (p.Gly802=) n.2981G>T c.2574G>T (p.Gly858=) c.2388G>T (p.Gly796=) n.2984G>T c.2679G>T (p.Gly893=) c.2745G>T (p.Gly915=) c.2697G>T (p.Gly899=) c.2562G>T (p.Gly854=) | |
16 | g.28835615G>A | CA395408192 | ATXN2L | c.2752G>A (p.Ala918Thr) c.727G>A (p.Ala243Thr) n.3126G>A c.2770G>A (p.Ala924Thr) c.1816G>A (n.1816G>A) c.21G>A c.730G>A (p.Ala244Thr) c.272G>A c.2773G>A (p.Ala925Thr) c.2755G>A (p.Ala919Thr) c.2593G>A (p.Ala865Thr) c.2701G>A (p.Ala901Thr) c.2683G>A (p.Ala895Thr) c.2407G>A (p.Ala803Thr) n.2982G>A c.2575G>A (p.Ala859Thr) c.2389G>A (p.Ala797Thr) n.2985G>A c.2680G>A (p.Ala894Thr) c.2746G>A (p.Ala916Thr) c.2698G>A (p.Ala900Thr) c.2563G>A (p.Ala855Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835615G>C | CA395408194 | ATXN2L | c.2752G>C (p.Ala918Pro) c.727G>C (p.Ala243Pro) n.3126G>C c.2770G>C (p.Ala924Pro) c.1816G>C (n.1816G>C) c.21G>C c.730G>C (p.Ala244Pro) c.272G>C c.2773G>C (p.Ala925Pro) c.2755G>C (p.Ala919Pro) c.2593G>C (p.Ala865Pro) c.2701G>C (p.Ala901Pro) c.2683G>C (p.Ala895Pro) c.2407G>C (p.Ala803Pro) n.2982G>C c.2575G>C (p.Ala859Pro) c.2389G>C (p.Ala797Pro) n.2985G>C c.2680G>C (p.Ala894Pro) c.2746G>C (p.Ala916Pro) c.2698G>C (p.Ala900Pro) c.2563G>C (p.Ala855Pro) | |
16 | g.28835615G= | CA2215806310 | ATXN2L | c.2752G= (p.Ala918=) c.727G= (p.Ala243=) n.3126G= c.2770G= (p.Ala924=) c.1816G= (n.1816G=) c.21G= c.730G= (p.Ala244=) c.272G= c.2773G= (p.Ala925=) c.2755G= (p.Ala919=) c.2593G= (p.Ala865=) c.2701G= (p.Ala901=) c.2683G= (p.Ala895=) c.2407G= (p.Ala803=) n.2982G= c.2575G= (p.Ala859=) c.2389G= (p.Ala797=) n.2985G= c.2680G= (p.Ala894=) c.2746G= (p.Ala916=) c.2698G= (p.Ala900=) c.2563G= (p.Ala855=) | |
16 | g.28835615G>T | CA7985086 | ATXN2L | c.2752G>T (p.Ala918Ser) c.727G>T (p.Ala243Ser) n.3126G>T c.2770G>T (p.Ala924Ser) c.1816G>T (n.1816G>T) c.21G>T c.730G>T (p.Ala244Ser) c.272G>T c.2773G>T (p.Ala925Ser) c.2755G>T (p.Ala919Ser) c.2593G>T (p.Ala865Ser) c.2701G>T (p.Ala901Ser) c.2683G>T (p.Ala895Ser) c.2407G>T (p.Ala803Ser) n.2982G>T c.2575G>T (p.Ala859Ser) c.2389G>T (p.Ala797Ser) n.2985G>T c.2680G>T (p.Ala894Ser) c.2746G>T (p.Ala916Ser) c.2698G>T (p.Ala900Ser) c.2563G>T (p.Ala855Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835616C>A | CA395408201 | ATXN2L | c.2753C>A (p.Ala918Asp) c.728C>A (p.Ala243Asp) n.3127C>A c.2771C>A (p.Ala924Asp) c.1817C>A (n.1817C>A) c.22C>A c.731C>A (p.Ala244Asp) c.273C>A c.2774C>A (p.Ala925Asp) c.2756C>A (p.Ala919Asp) c.2594C>A (p.Ala865Asp) c.2702C>A (p.Ala901Asp) c.2684C>A (p.Ala895Asp) c.2408C>A (p.Ala803Asp) n.2983C>A c.2576C>A (p.Ala859Asp) c.2390C>A (p.Ala797Asp) n.2986C>A c.2681C>A (p.Ala894Asp) c.2747C>A (p.Ala916Asp) c.2699C>A (p.Ala900Asp) c.2564C>A (p.Ala855Asp) | |
16 | g.28835616C>G | CA395408199 | ATXN2L | c.2753C>G (p.Ala918Gly) c.728C>G (p.Ala243Gly) n.3127C>G c.2771C>G (p.Ala924Gly) c.1817C>G (n.1817C>G) c.22C>G c.731C>G (p.Ala244Gly) c.273C>G c.2774C>G (p.Ala925Gly) c.2756C>G (p.Ala919Gly) c.2594C>G (p.Ala865Gly) c.2702C>G (p.Ala901Gly) c.2684C>G (p.Ala895Gly) c.2408C>G (p.Ala803Gly) n.2983C>G c.2576C>G (p.Ala859Gly) c.2390C>G (p.Ala797Gly) n.2986C>G c.2681C>G (p.Ala894Gly) c.2747C>G (p.Ala916Gly) c.2699C>G (p.Ala900Gly) c.2564C>G (p.Ala855Gly) | |
16 | g.28835616C>T | CA395408197 | ATXN2L | c.2753C>T (p.Ala918Val) c.728C>T (p.Ala243Val) n.3127C>T c.2771C>T (p.Ala924Val) c.1817C>T (n.1817C>T) c.22C>T c.731C>T (p.Ala244Val) c.273C>T c.2774C>T (p.Ala925Val) c.2756C>T (p.Ala919Val) c.2594C>T (p.Ala865Val) c.2702C>T (p.Ala901Val) c.2684C>T (p.Ala895Val) c.2408C>T (p.Ala803Val) n.2983C>T c.2576C>T (p.Ala859Val) c.2390C>T (p.Ala797Val) n.2986C>T c.2681C>T (p.Ala894Val) c.2747C>T (p.Ala916Val) c.2699C>T (p.Ala900Val) c.2564C>T (p.Ala855Val) | gnomAD v4 |
16 | g.28835617C>A | CA494868568 | ATXN2L | c.2754C>A (p.Ala918=) c.729C>A (p.Ala243=) n.3128C>A c.2772C>A (p.Ala924=) c.1818C>A (n.1818C>A) c.23C>A c.732C>A (p.Ala244=) c.274C>A c.2775C>A (p.Ala925=) c.2757C>A (p.Ala919=) c.2595C>A (p.Ala865=) c.2703C>A (p.Ala901=) c.2685C>A (p.Ala895=) c.2409C>A (p.Ala803=) n.2984C>A c.2577C>A (p.Ala859=) c.2391C>A (p.Ala797=) n.2987C>A c.2682C>A (p.Ala894=) c.2748C>A (p.Ala916=) c.2700C>A (p.Ala900=) c.2565C>A (p.Ala855=) | |
16 | g.28835617C>G | CA494868570 | ATXN2L | c.2754C>G (p.Ala918=) c.729C>G (p.Ala243=) n.3128C>G c.2772C>G (p.Ala924=) c.1818C>G (n.1818C>G) c.23C>G c.732C>G (p.Ala244=) c.274C>G c.2775C>G (p.Ala925=) c.2757C>G (p.Ala919=) c.2595C>G (p.Ala865=) c.2703C>G (p.Ala901=) c.2685C>G (p.Ala895=) c.2409C>G (p.Ala803=) n.2984C>G c.2577C>G (p.Ala859=) c.2391C>G (p.Ala797=) n.2987C>G c.2682C>G (p.Ala894=) c.2748C>G (p.Ala916=) c.2700C>G (p.Ala900=) c.2565C>G (p.Ala855=) | |
16 | g.28835617C>T | CA494868572 | ATXN2L | c.2754C>T (p.Ala918=) c.729C>T (p.Ala243=) n.3128C>T c.2772C>T (p.Ala924=) c.1818C>T (n.1818C>T) c.23C>T c.732C>T (p.Ala244=) c.274C>T c.2775C>T (p.Ala925=) c.2757C>T (p.Ala919=) c.2595C>T (p.Ala865=) c.2703C>T (p.Ala901=) c.2685C>T (p.Ala895=) c.2409C>T (p.Ala803=) n.2984C>T c.2577C>T (p.Ala859=) c.2391C>T (p.Ala797=) n.2987C>T c.2682C>T (p.Ala894=) c.2748C>T (p.Ala916=) c.2700C>T (p.Ala900=) c.2565C>T (p.Ala855=) | |
16 | g.28835618C>A | CA395408205 | ATXN2L | c.2755C>A (p.Leu919Met) c.730C>A (p.Leu244Met) n.3129C>A c.2773C>A (p.Leu925Met) c.1819C>A (n.1819C>A) c.24C>A c.733C>A (p.Leu245Met) c.275C>A c.2776C>A (p.Leu926Met) c.2758C>A (p.Leu920Met) c.2596C>A (p.Leu866Met) c.2704C>A (p.Leu902Met) c.2686C>A (p.Leu896Met) c.2410C>A (p.Leu804Met) n.2985C>A c.2578C>A (p.Leu860Met) c.2392C>A (p.Leu798Met) n.2988C>A c.2683C>A (p.Leu895Met) c.2749C>A (p.Leu917Met) c.2701C>A (p.Leu901Met) c.2566C>A (p.Leu856Met) | |
16 | g.28835618C= | CA2215806313 | ATXN2L | c.2755C= (p.Leu919=) c.730C= (p.Leu244=) n.3129C= c.2773C= (p.Leu925=) c.1819C= (n.1819C=) c.24C= c.733C= (p.Leu245=) c.275C= c.2776C= (p.Leu926=) c.2758C= (p.Leu920=) c.2596C= (p.Leu866=) c.2704C= (p.Leu902=) c.2686C= (p.Leu896=) c.2410C= (p.Leu804=) n.2985C= c.2578C= (p.Leu860=) c.2392C= (p.Leu798=) n.2988C= c.2683C= (p.Leu895=) c.2749C= (p.Leu917=) c.2701C= (p.Leu901=) c.2566C= (p.Leu856=) | |
16 | g.28835618C>G | CA395408203 | ATXN2L | c.2755C>G (p.Leu919Val) c.730C>G (p.Leu244Val) n.3129C>G c.2773C>G (p.Leu925Val) c.1819C>G (n.1819C>G) c.24C>G c.733C>G (p.Leu245Val) c.275C>G c.2776C>G (p.Leu926Val) c.2758C>G (p.Leu920Val) c.2596C>G (p.Leu866Val) c.2704C>G (p.Leu902Val) c.2686C>G (p.Leu896Val) c.2410C>G (p.Leu804Val) n.2985C>G c.2578C>G (p.Leu860Val) c.2392C>G (p.Leu798Val) n.2988C>G c.2683C>G (p.Leu895Val) c.2749C>G (p.Leu917Val) c.2701C>G (p.Leu901Val) c.2566C>G (p.Leu856Val) | gnomAD v4 |
16 | g.28835618C>T | CA494868581 | ATXN2L | c.2755C>T (p.Leu919=) c.730C>T (p.Leu244=) n.3129C>T c.2773C>T (p.Leu925=) c.1819C>T (n.1819C>T) c.24C>T c.733C>T (p.Leu245=) c.275C>T c.2776C>T (p.Leu926=) c.2758C>T (p.Leu920=) c.2596C>T (p.Leu866=) c.2704C>T (p.Leu902=) c.2686C>T (p.Leu896=) c.2410C>T (p.Leu804=) n.2985C>T c.2578C>T (p.Leu860=) c.2392C>T (p.Leu798=) n.2988C>T c.2683C>T (p.Leu895=) c.2749C>T (p.Leu917=) c.2701C>T (p.Leu901=) c.2566C>T (p.Leu856=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835619T>A | CA395408207 | ATXN2L | c.2756T>A (p.Leu919Gln) c.731T>A (p.Leu244Gln) n.3130T>A c.2774T>A (p.Leu925Gln) c.1820T>A (n.1820T>A) c.25T>A c.734T>A (p.Leu245Gln) c.276T>A c.2777T>A (p.Leu926Gln) c.2759T>A (p.Leu920Gln) c.2597T>A (p.Leu866Gln) c.2705T>A (p.Leu902Gln) c.2687T>A (p.Leu896Gln) c.2411T>A (p.Leu804Gln) n.2986T>A c.2579T>A (p.Leu860Gln) c.2393T>A (p.Leu798Gln) n.2989T>A c.2684T>A (p.Leu895Gln) c.2750T>A (p.Leu917Gln) c.2702T>A (p.Leu901Gln) c.2567T>A (p.Leu856Gln) | |
16 | g.28835619T>C | CA395408209 | ATXN2L | c.2756T>C (p.Leu919Pro) c.731T>C (p.Leu244Pro) n.3130T>C c.2774T>C (p.Leu925Pro) c.1820T>C (n.1820T>C) c.25T>C c.734T>C (p.Leu245Pro) c.276T>C c.2777T>C (p.Leu926Pro) c.2759T>C (p.Leu920Pro) c.2597T>C (p.Leu866Pro) c.2705T>C (p.Leu902Pro) c.2687T>C (p.Leu896Pro) c.2411T>C (p.Leu804Pro) n.2986T>C c.2579T>C (p.Leu860Pro) c.2393T>C (p.Leu798Pro) n.2989T>C c.2684T>C (p.Leu895Pro) c.2750T>C (p.Leu917Pro) c.2702T>C (p.Leu901Pro) c.2567T>C (p.Leu856Pro) | |
16 | g.28835619T>G | CA395408210 | ATXN2L | c.2756T>G (p.Leu919Arg) c.731T>G (p.Leu244Arg) n.3130T>G c.2774T>G (p.Leu925Arg) c.1820T>G (n.1820T>G) c.25T>G c.734T>G (p.Leu245Arg) c.276T>G c.2777T>G (p.Leu926Arg) c.2759T>G (p.Leu920Arg) c.2597T>G (p.Leu866Arg) c.2705T>G (p.Leu902Arg) c.2687T>G (p.Leu896Arg) c.2411T>G (p.Leu804Arg) n.2986T>G c.2579T>G (p.Leu860Arg) c.2393T>G (p.Leu798Arg) n.2989T>G c.2684T>G (p.Leu895Arg) c.2750T>G (p.Leu917Arg) c.2702T>G (p.Leu901Arg) c.2567T>G (p.Leu856Arg) | |
16 | g.28835620G>A | CA494868586 | ATXN2L | c.2757G>A (p.Leu919=) c.732G>A (p.Leu244=) n.3131G>A c.2775G>A (p.Leu925=) c.1821G>A (n.1821G>A) c.26G>A c.735G>A (p.Leu245=) c.277G>A c.2778G>A (p.Leu926=) c.2760G>A (p.Leu920=) c.2598G>A (p.Leu866=) c.2706G>A (p.Leu902=) c.2688G>A (p.Leu896=) c.2412G>A (p.Leu804=) n.2987G>A c.2580G>A (p.Leu860=) c.2394G>A (p.Leu798=) n.2990G>A c.2685G>A (p.Leu895=) c.2751G>A (p.Leu917=) c.2703G>A (p.Leu901=) c.2568G>A (p.Leu856=) | |
16 | g.28835620G>C | CA494868587 | ATXN2L | c.2757G>C (p.Leu919=) c.732G>C (p.Leu244=) n.3131G>C c.2775G>C (p.Leu925=) c.1821G>C (n.1821G>C) c.26G>C c.735G>C (p.Leu245=) c.277G>C c.2778G>C (p.Leu926=) c.2760G>C (p.Leu920=) c.2598G>C (p.Leu866=) c.2706G>C (p.Leu902=) c.2688G>C (p.Leu896=) c.2412G>C (p.Leu804=) n.2987G>C c.2580G>C (p.Leu860=) c.2394G>C (p.Leu798=) n.2990G>C c.2685G>C (p.Leu895=) c.2751G>C (p.Leu917=) c.2703G>C (p.Leu901=) c.2568G>C (p.Leu856=) | |
16 | g.28835620G>T | CA494868589 | ATXN2L | c.2757G>T (p.Leu919=) c.732G>T (p.Leu244=) n.3131G>T c.2775G>T (p.Leu925=) c.1821G>T (n.1821G>T) c.26G>T c.735G>T (p.Leu245=) c.277G>T c.2778G>T (p.Leu926=) c.2760G>T (p.Leu920=) c.2598G>T (p.Leu866=) c.2706G>T (p.Leu902=) c.2688G>T (p.Leu896=) c.2412G>T (p.Leu804=) n.2987G>T c.2580G>T (p.Leu860=) c.2394G>T (p.Leu798=) n.2990G>T c.2685G>T (p.Leu895=) c.2751G>T (p.Leu917=) c.2703G>T (p.Leu901=) c.2568G>T (p.Leu856=) | |
16 | g.28835621A>C | CA395408211 | ATXN2L | c.2758A>C (p.Thr920Pro) c.733A>C (p.Thr245Pro) n.3132A>C c.2776A>C (p.Thr926Pro) c.1822A>C (n.1822A>C) c.27A>C c.736A>C (p.Thr246Pro) c.278A>C c.2779A>C (p.Thr927Pro) c.2761A>C (p.Thr921Pro) c.2599A>C (p.Thr867Pro) c.2707A>C (p.Thr903Pro) c.2689A>C (p.Thr897Pro) c.2413A>C (p.Thr805Pro) n.2988A>C c.2581A>C (p.Thr861Pro) c.2395A>C (p.Thr799Pro) n.2991A>C c.2686A>C (p.Thr896Pro) c.2752A>C (p.Thr918Pro) c.2704A>C (p.Thr902Pro) c.2569A>C (p.Thr857Pro) | |
16 | g.28835621A>G | CA395408213 | ATXN2L | c.2758A>G (p.Thr920Ala) c.733A>G (p.Thr245Ala) n.3132A>G c.2776A>G (p.Thr926Ala) c.1822A>G (n.1822A>G) c.27A>G c.736A>G (p.Thr246Ala) c.278A>G c.2779A>G (p.Thr927Ala) c.2761A>G (p.Thr921Ala) c.2599A>G (p.Thr867Ala) c.2707A>G (p.Thr903Ala) c.2689A>G (p.Thr897Ala) c.2413A>G (p.Thr805Ala) n.2988A>G c.2581A>G (p.Thr861Ala) c.2395A>G (p.Thr799Ala) n.2991A>G c.2686A>G (p.Thr896Ala) c.2752A>G (p.Thr918Ala) c.2704A>G (p.Thr902Ala) c.2569A>G (p.Thr857Ala) | |
16 | g.28835621A>T | CA395408215 | ATXN2L | c.2758A>T (p.Thr920Ser) c.733A>T (p.Thr245Ser) n.3132A>T c.2776A>T (p.Thr926Ser) c.1822A>T (n.1822A>T) c.27A>T c.736A>T (p.Thr246Ser) c.278A>T c.2779A>T (p.Thr927Ser) c.2761A>T (p.Thr921Ser) c.2599A>T (p.Thr867Ser) c.2707A>T (p.Thr903Ser) c.2689A>T (p.Thr897Ser) c.2413A>T (p.Thr805Ser) n.2988A>T c.2581A>T (p.Thr861Ser) c.2395A>T (p.Thr799Ser) n.2991A>T c.2686A>T (p.Thr896Ser) c.2752A>T (p.Thr918Ser) c.2704A>T (p.Thr902Ser) c.2569A>T (p.Thr857Ser) | |
16 | g.28835622C>A | CA395408216 | ATXN2L | c.2759C>A (p.Thr920Lys) c.734C>A (p.Thr245Lys) n.3133C>A c.2777C>A (p.Thr926Lys) c.1823C>A (n.1823C>A) c.28C>A c.737C>A (p.Thr246Lys) c.279C>A c.2780C>A (p.Thr927Lys) c.2762C>A (p.Thr921Lys) c.2600C>A (p.Thr867Lys) c.2708C>A (p.Thr903Lys) c.2690C>A (p.Thr897Lys) c.2414C>A (p.Thr805Lys) n.2989C>A c.2582C>A (p.Thr861Lys) c.2396C>A (p.Thr799Lys) n.2992C>A c.2687C>A (p.Thr896Lys) c.2753C>A (p.Thr918Lys) c.2705C>A (p.Thr902Lys) c.2570C>A (p.Thr857Lys) | |
16 | g.28835622C= | CA2215806315 | ATXN2L | c.2759C= (p.Thr920=) c.734C= (p.Thr245=) n.3133C= c.2777C= (p.Thr926=) c.1823C= (n.1823C=) c.28C= c.737C= (p.Thr246=) c.279C= c.2780C= (p.Thr927=) c.2762C= (p.Thr921=) c.2600C= (p.Thr867=) c.2708C= (p.Thr903=) c.2690C= (p.Thr897=) c.2414C= (p.Thr805=) n.2989C= c.2582C= (p.Thr861=) c.2396C= (p.Thr799=) n.2992C= c.2687C= (p.Thr896=) c.2753C= (p.Thr918=) c.2705C= (p.Thr902=) c.2570C= (p.Thr857=) | |
16 | g.28835622C>G | CA395408217 | ATXN2L | c.2759C>G (p.Thr920Arg) c.734C>G (p.Thr245Arg) n.3133C>G c.2777C>G (p.Thr926Arg) c.1823C>G (n.1823C>G) c.28C>G c.737C>G (p.Thr246Arg) c.279C>G c.2780C>G (p.Thr927Arg) c.2762C>G (p.Thr921Arg) c.2600C>G (p.Thr867Arg) c.2708C>G (p.Thr903Arg) c.2690C>G (p.Thr897Arg) c.2414C>G (p.Thr805Arg) n.2989C>G c.2582C>G (p.Thr861Arg) c.2396C>G (p.Thr799Arg) n.2992C>G c.2687C>G (p.Thr896Arg) c.2753C>G (p.Thr918Arg) c.2705C>G (p.Thr902Arg) c.2570C>G (p.Thr857Arg) | |
16 | g.28835622C>T | CA7985087 | ATXN2L | c.2759C>T (p.Thr920Ile) c.734C>T (p.Thr245Ile) n.3133C>T c.2777C>T (p.Thr926Ile) c.1823C>T (n.1823C>T) c.28C>T c.737C>T (p.Thr246Ile) c.279C>T c.2780C>T (p.Thr927Ile) c.2762C>T (p.Thr921Ile) c.2600C>T (p.Thr867Ile) c.2708C>T (p.Thr903Ile) c.2690C>T (p.Thr897Ile) c.2414C>T (p.Thr805Ile) n.2989C>T c.2582C>T (p.Thr861Ile) c.2396C>T (p.Thr799Ile) n.2992C>T c.2687C>T (p.Thr896Ile) c.2753C>T (p.Thr918Ile) c.2705C>T (p.Thr902Ile) c.2570C>T (p.Thr857Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835623A>C | CA494868606 | ATXN2L | c.2760A>C (p.Thr920=) c.735A>C (p.Thr245=) n.3134A>C c.2778A>C (p.Thr926=) c.1824A>C (n.1824A>C) c.29A>C c.738A>C (p.Thr246=) c.280A>C c.2781A>C (p.Thr927=) c.2763A>C (p.Thr921=) c.2601A>C (p.Thr867=) c.2709A>C (p.Thr903=) c.2691A>C (p.Thr897=) c.2415A>C (p.Thr805=) n.2990A>C c.2583A>C (p.Thr861=) c.2397A>C (p.Thr799=) n.2993A>C c.2688A>C (p.Thr896=) c.2754A>C (p.Thr918=) c.2706A>C (p.Thr902=) c.2571A>C (p.Thr857=) | |
16 | g.28835623A>G | CA494868607 | ATXN2L | c.2760A>G (p.Thr920=) c.735A>G (p.Thr245=) n.3134A>G c.2778A>G (p.Thr926=) c.1824A>G (n.1824A>G) c.29A>G c.738A>G (p.Thr246=) c.280A>G c.2781A>G (p.Thr927=) c.2763A>G (p.Thr921=) c.2601A>G (p.Thr867=) c.2709A>G (p.Thr903=) c.2691A>G (p.Thr897=) c.2415A>G (p.Thr805=) n.2990A>G c.2583A>G (p.Thr861=) c.2397A>G (p.Thr799=) n.2993A>G c.2688A>G (p.Thr896=) c.2754A>G (p.Thr918=) c.2706A>G (p.Thr902=) c.2571A>G (p.Thr857=) | gnomAD v4 |
16 | g.28835623A>T | CA494868608 | ATXN2L | c.2760A>T (p.Thr920=) c.735A>T (p.Thr245=) n.3134A>T c.2778A>T (p.Thr926=) c.1824A>T (n.1824A>T) c.29A>T c.738A>T (p.Thr246=) c.280A>T c.2781A>T (p.Thr927=) c.2763A>T (p.Thr921=) c.2601A>T (p.Thr867=) c.2709A>T (p.Thr903=) c.2691A>T (p.Thr897=) c.2415A>T (p.Thr805=) n.2990A>T c.2583A>T (p.Thr861=) c.2397A>T (p.Thr799=) n.2993A>T c.2688A>T (p.Thr896=) c.2754A>T (p.Thr918=) c.2706A>T (p.Thr902=) c.2571A>T (p.Thr857=) | |
16 | g.28835624G>A | CA279230752 | ATXN2L | c.2761G>A (p.Gly921Ser) c.736G>A (p.Gly246Ser) n.3135G>A c.2779G>A (p.Gly927Ser) c.1825G>A (n.1825G>A) c.30G>A c.739G>A (p.Gly247Ser) c.281G>A c.2782G>A (p.Gly928Ser) c.2764G>A (p.Gly922Ser) c.2602G>A (p.Gly868Ser) c.2710G>A (p.Gly904Ser) c.2692G>A (p.Gly898Ser) c.2416G>A (p.Gly806Ser) n.2991G>A c.2584G>A (p.Gly862Ser) c.2398G>A (p.Gly800Ser) n.2994G>A c.2689G>A (p.Gly897Ser) c.2755G>A (p.Gly919Ser) c.2707G>A (p.Gly903Ser) c.2572G>A (p.Gly858Ser) | dbSNP gnomAD v4 |
16 | g.28835624G>C | CA395408221 | ATXN2L | c.2761G>C (p.Gly921Arg) c.736G>C (p.Gly246Arg) n.3135G>C c.2779G>C (p.Gly927Arg) c.1825G>C (n.1825G>C) c.30G>C c.739G>C (p.Gly247Arg) c.281G>C c.2782G>C (p.Gly928Arg) c.2764G>C (p.Gly922Arg) c.2602G>C (p.Gly868Arg) c.2710G>C (p.Gly904Arg) c.2692G>C (p.Gly898Arg) c.2416G>C (p.Gly806Arg) n.2991G>C c.2584G>C (p.Gly862Arg) c.2398G>C (p.Gly800Arg) n.2994G>C c.2689G>C (p.Gly897Arg) c.2755G>C (p.Gly919Arg) c.2707G>C (p.Gly903Arg) c.2572G>C (p.Gly858Arg) | gnomAD v4 |
16 | g.28835624G= | CA2215806318 | ATXN2L | c.2761G= (p.Gly921=) c.736G= (p.Gly246=) n.3135G= c.2779G= (p.Gly927=) c.1825G= (n.1825G=) c.30G= c.739G= (p.Gly247=) c.281G= c.2782G= (p.Gly928=) c.2764G= (p.Gly922=) c.2602G= (p.Gly868=) c.2710G= (p.Gly904=) c.2692G= (p.Gly898=) c.2416G= (p.Gly806=) n.2991G= c.2584G= (p.Gly862=) c.2398G= (p.Gly800=) n.2994G= c.2689G= (p.Gly897=) c.2755G= (p.Gly919=) c.2707G= (p.Gly903=) c.2572G= (p.Gly858=) | |
16 | g.28835624G>T | CA395408223 | ATXN2L | c.2761G>T (p.Gly921Cys) c.736G>T (p.Gly246Cys) n.3135G>T c.2779G>T (p.Gly927Cys) c.1825G>T (n.1825G>T) c.30G>T c.739G>T (p.Gly247Cys) c.281G>T c.2782G>T (p.Gly928Cys) c.2764G>T (p.Gly922Cys) c.2602G>T (p.Gly868Cys) c.2710G>T (p.Gly904Cys) c.2692G>T (p.Gly898Cys) c.2416G>T (p.Gly806Cys) n.2991G>T c.2584G>T (p.Gly862Cys) c.2398G>T (p.Gly800Cys) n.2994G>T c.2689G>T (p.Gly897Cys) c.2755G>T (p.Gly919Cys) c.2707G>T (p.Gly903Cys) c.2572G>T (p.Gly858Cys) | |
16 | g.28835625G>A | CA7985088 | ATXN2L | c.2762G>A (p.Gly921Asp) c.737G>A (p.Gly246Asp) n.3136G>A c.2780G>A (p.Gly927Asp) c.1826G>A (n.1826G>A) c.31G>A c.740G>A (p.Gly247Asp) c.282G>A c.2783G>A (p.Gly928Asp) c.2765G>A (p.Gly922Asp) c.2603G>A (p.Gly868Asp) c.2711G>A (p.Gly904Asp) c.2693G>A (p.Gly898Asp) c.2417G>A (p.Gly806Asp) n.2992G>A c.2585G>A (p.Gly862Asp) c.2399G>A (p.Gly800Asp) n.2995G>A c.2690G>A (p.Gly897Asp) c.2756G>A (p.Gly919Asp) c.2708G>A (p.Gly903Asp) c.2573G>A (p.Gly858Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835625G>C | CA395408227 | ATXN2L | c.2762G>C (p.Gly921Ala) c.737G>C (p.Gly246Ala) n.3136G>C c.2780G>C (p.Gly927Ala) c.1826G>C (n.1826G>C) c.31G>C c.740G>C (p.Gly247Ala) c.282G>C c.2783G>C (p.Gly928Ala) c.2765G>C (p.Gly922Ala) c.2603G>C (p.Gly868Ala) c.2711G>C (p.Gly904Ala) c.2693G>C (p.Gly898Ala) c.2417G>C (p.Gly806Ala) n.2992G>C c.2585G>C (p.Gly862Ala) c.2399G>C (p.Gly800Ala) n.2995G>C c.2690G>C (p.Gly897Ala) c.2756G>C (p.Gly919Ala) c.2708G>C (p.Gly903Ala) c.2573G>C (p.Gly858Ala) | gnomAD v4 |
16 | g.28835625G= | CA2215806320 | ATXN2L | c.2762G= (p.Gly921=) c.737G= (p.Gly246=) n.3136G= c.2780G= (p.Gly927=) c.1826G= (n.1826G=) c.31G= c.740G= (p.Gly247=) c.282G= c.2783G= (p.Gly928=) c.2765G= (p.Gly922=) c.2603G= (p.Gly868=) c.2711G= (p.Gly904=) c.2693G= (p.Gly898=) c.2417G= (p.Gly806=) n.2992G= c.2585G= (p.Gly862=) c.2399G= (p.Gly800=) n.2995G= c.2690G= (p.Gly897=) c.2756G= (p.Gly919=) c.2708G= (p.Gly903=) c.2573G= (p.Gly858=) | |
16 | g.28835625G>T | CA395408226 | ATXN2L | c.2762G>T (p.Gly921Val) c.737G>T (p.Gly246Val) n.3136G>T c.2780G>T (p.Gly927Val) c.1826G>T (n.1826G>T) c.31G>T c.740G>T (p.Gly247Val) c.282G>T c.2783G>T (p.Gly928Val) c.2765G>T (p.Gly922Val) c.2603G>T (p.Gly868Val) c.2711G>T (p.Gly904Val) c.2693G>T (p.Gly898Val) c.2417G>T (p.Gly806Val) n.2992G>T c.2585G>T (p.Gly862Val) c.2399G>T (p.Gly800Val) n.2995G>T c.2690G>T (p.Gly897Val) c.2756G>T (p.Gly919Val) c.2708G>T (p.Gly903Val) c.2573G>T (p.Gly858Val) | |
16 | g.28835626C>A | CA494868638 | ATXN2L | c.2763C>A (p.Gly921=) c.738C>A (p.Gly246=) n.3137C>A c.2781C>A (p.Gly927=) c.1827C>A (n.1827C>A) c.32C>A c.741C>A (p.Gly247=) c.283C>A c.2784C>A (p.Gly928=) c.2766C>A (p.Gly922=) c.2604C>A (p.Gly868=) c.2712C>A (p.Gly904=) c.2694C>A (p.Gly898=) c.2418C>A (p.Gly806=) n.2993C>A c.2586C>A (p.Gly862=) c.2400C>A (p.Gly800=) n.2996C>A c.2691C>A (p.Gly897=) c.2757C>A (p.Gly919=) c.2709C>A (p.Gly903=) c.2574C>A (p.Gly858=) | |
16 | g.28835626C>G | CA494868636 | ATXN2L | c.2763C>G (p.Gly921=) c.738C>G (p.Gly246=) n.3137C>G c.2781C>G (p.Gly927=) c.1827C>G (n.1827C>G) c.32C>G c.741C>G (p.Gly247=) c.283C>G c.2784C>G (p.Gly928=) c.2766C>G (p.Gly922=) c.2604C>G (p.Gly868=) c.2712C>G (p.Gly904=) c.2694C>G (p.Gly898=) c.2418C>G (p.Gly806=) n.2993C>G c.2586C>G (p.Gly862=) c.2400C>G (p.Gly800=) n.2996C>G c.2691C>G (p.Gly897=) c.2757C>G (p.Gly919=) c.2709C>G (p.Gly903=) c.2574C>G (p.Gly858=) | |
16 | g.28835626C>T | CA494868632 | ATXN2L | c.2763C>T (p.Gly921=) c.738C>T (p.Gly246=) n.3137C>T c.2781C>T (p.Gly927=) c.1827C>T (n.1827C>T) c.32C>T c.741C>T (p.Gly247=) c.283C>T c.2784C>T (p.Gly928=) c.2766C>T (p.Gly922=) c.2604C>T (p.Gly868=) c.2712C>T (p.Gly904=) c.2694C>T (p.Gly898=) c.2418C>T (p.Gly806=) n.2993C>T c.2586C>T (p.Gly862=) c.2400C>T (p.Gly800=) n.2996C>T c.2691C>T (p.Gly897=) c.2757C>T (p.Gly919=) c.2709C>T (p.Gly903=) c.2574C>T (p.Gly858=) | |
16 | g.28835627A>C | CA395408228 | ATXN2L | c.2764A>C (p.Thr922Pro) c.739A>C (p.Thr247Pro) n.3138A>C c.2782A>C (p.Thr928Pro) c.1828A>C (n.1828A>C) c.33A>C c.742A>C (p.Thr248Pro) c.284A>C c.2785A>C (p.Thr929Pro) c.2767A>C (p.Thr923Pro) c.2605A>C (p.Thr869Pro) c.2713A>C (p.Thr905Pro) c.2695A>C (p.Thr899Pro) c.2419A>C (p.Thr807Pro) n.2994A>C c.2587A>C (p.Thr863Pro) c.2401A>C (p.Thr801Pro) n.2997A>C c.2692A>C (p.Thr898Pro) c.2758A>C (p.Thr920Pro) c.2710A>C (p.Thr904Pro) c.2575A>C (p.Thr859Pro) | |
16 | g.28835627A>G | CA395408229 | ATXN2L | c.2764A>G (p.Thr922Ala) c.739A>G (p.Thr247Ala) n.3138A>G c.2782A>G (p.Thr928Ala) c.1828A>G (n.1828A>G) c.33A>G c.742A>G (p.Thr248Ala) c.284A>G c.2785A>G (p.Thr929Ala) c.2767A>G (p.Thr923Ala) c.2605A>G (p.Thr869Ala) c.2713A>G (p.Thr905Ala) c.2695A>G (p.Thr899Ala) c.2419A>G (p.Thr807Ala) n.2994A>G c.2587A>G (p.Thr863Ala) c.2401A>G (p.Thr801Ala) n.2997A>G c.2692A>G (p.Thr898Ala) c.2758A>G (p.Thr920Ala) c.2710A>G (p.Thr904Ala) c.2575A>G (p.Thr859Ala) | |
16 | g.28835627A>T | CA395408230 | ATXN2L | c.2764A>T (p.Thr922Ser) c.739A>T (p.Thr247Ser) n.3138A>T c.2782A>T (p.Thr928Ser) c.1828A>T (n.1828A>T) c.33A>T c.742A>T (p.Thr248Ser) c.284A>T c.2785A>T (p.Thr929Ser) c.2767A>T (p.Thr923Ser) c.2605A>T (p.Thr869Ser) c.2713A>T (p.Thr905Ser) c.2695A>T (p.Thr899Ser) c.2419A>T (p.Thr807Ser) n.2994A>T c.2587A>T (p.Thr863Ser) c.2401A>T (p.Thr801Ser) n.2997A>T c.2692A>T (p.Thr898Ser) c.2758A>T (p.Thr920Ser) c.2710A>T (p.Thr904Ser) c.2575A>T (p.Thr859Ser) | |
16 | g.28835627_28835630delinsACGC | CA2215806323 | ATXN2L | c.2764_2767delinsACGC (p.Thr922=) c.739_742delinsACGC (p.Thr247=) n.3138_3141delinsACGC c.2782_2785delinsACGC (p.Thr928=) c.1828_1831delinsACGC (n.1828_1831delinsACGC) c.33_36delinsACGC c.742_745delinsACGC (p.Thr248=) c.284_287delinsACGC c.2785_2788delinsACGC (p.Thr929=) c.2767_2770delinsACGC (p.Thr923=) c.2605_2608delinsACGC (p.Thr869=) c.2713_2716delinsACGC (p.Thr905=) c.2695_2698delinsACGC (p.Thr899=) c.2419_2422delinsACGC (p.Thr807=) n.2994_2997delinsACGC c.2587_2590delinsACGC (p.Thr863=) c.2401_2404delinsACGC (p.Thr801=) n.2997_3000delinsACGC c.2692_2695delinsACGC (p.Thr898=) c.2758_2761delinsACGC (p.Thr920=) c.2710_2713delinsACGC (p.Thr904=) c.2575_2578delinsACGC (p.Thr859=) | |
16 | g.28835628C>A | CA395408231 | ATXN2L | c.2765C>A (p.Thr922Lys) c.740C>A (p.Thr247Lys) n.3139C>A c.2783C>A (p.Thr928Lys) c.1829C>A (n.1829C>A) c.34C>A c.743C>A (p.Thr248Lys) c.285C>A c.2786C>A (p.Thr929Lys) c.2768C>A (p.Thr923Lys) c.2606C>A (p.Thr869Lys) c.2714C>A (p.Thr905Lys) c.2696C>A (p.Thr899Lys) c.2420C>A (p.Thr807Lys) n.2995C>A c.2588C>A (p.Thr863Lys) c.2402C>A (p.Thr801Lys) n.2998C>A c.2693C>A (p.Thr898Lys) c.2759C>A (p.Thr920Lys) c.2711C>A (p.Thr904Lys) c.2576C>A (p.Thr859Lys) | gnomAD v4 |
16 | g.28835628C= | CA2215806327 | ATXN2L | c.2765C= (p.Thr922=) c.740C= (p.Thr247=) n.3139C= c.2783C= (p.Thr928=) c.1829C= (n.1829C=) c.34C= c.743C= (p.Thr248=) c.285C= c.2786C= (p.Thr929=) c.2768C= (p.Thr923=) c.2606C= (p.Thr869=) c.2714C= (p.Thr905=) c.2696C= (p.Thr899=) c.2420C= (p.Thr807=) n.2995C= c.2588C= (p.Thr863=) c.2402C= (p.Thr801=) n.2998C= c.2693C= (p.Thr898=) c.2759C= (p.Thr920=) c.2711C= (p.Thr904=) c.2576C= (p.Thr859=) | |
16 | g.28835628C>G | CA395408232 | ATXN2L | c.2765C>G (p.Thr922Arg) c.740C>G (p.Thr247Arg) n.3139C>G c.2783C>G (p.Thr928Arg) c.1829C>G (n.1829C>G) c.34C>G c.743C>G (p.Thr248Arg) c.285C>G c.2786C>G (p.Thr929Arg) c.2768C>G (p.Thr923Arg) c.2606C>G (p.Thr869Arg) c.2714C>G (p.Thr905Arg) c.2696C>G (p.Thr899Arg) c.2420C>G (p.Thr807Arg) n.2995C>G c.2588C>G (p.Thr863Arg) c.2402C>G (p.Thr801Arg) n.2998C>G c.2693C>G (p.Thr898Arg) c.2759C>G (p.Thr920Arg) c.2711C>G (p.Thr904Arg) c.2576C>G (p.Thr859Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835628C>T | CA279230754 | ATXN2L | c.2765C>T (p.Thr922Met) c.740C>T (p.Thr247Met) n.3139C>T c.2783C>T (p.Thr928Met) c.1829C>T (n.1829C>T) c.34C>T c.743C>T (p.Thr248Met) c.285C>T c.2786C>T (p.Thr929Met) c.2768C>T (p.Thr923Met) c.2606C>T (p.Thr869Met) c.2714C>T (p.Thr905Met) c.2696C>T (p.Thr899Met) c.2420C>T (p.Thr807Met) n.2995C>T c.2588C>T (p.Thr863Met) c.2402C>T (p.Thr801Met) n.2998C>T c.2693C>T (p.Thr898Met) c.2759C>T (p.Thr920Met) c.2711C>T (p.Thr904Met) c.2576C>T (p.Thr859Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835632_28835634del | CA719715198 | ATXN2L | c.2769_2771del (p.Pro924del) c.744_746del (p.Pro249del) n.3143_3145del c.2787_2789del (p.Pro930del) c.1833_1835del (n.1833_1835del) c.38_40del c.747_749del (p.Pro250del) c.289_291del c.2790_2792del (p.Pro931del) c.2772_2774del (p.Pro925del) c.2610_2612del (p.Pro871del) c.2718_2720del (p.Pro907del) c.2700_2702del (p.Pro901del) c.2424_2426del (p.Pro809del) n.2999_3001del c.2592_2594del (p.Pro865del) c.2406_2408del (p.Pro803del) n.3002_3004del c.2697_2699del (p.Pro900del) c.2763_2765del (p.Pro922del) c.2715_2717del (p.Pro906del) c.2580_2582del (p.Pro861del) | dbSNP |
16 | g.28835629G>A | CA7985089 | ATXN2L | c.2766G>A (p.Thr922=) c.741G>A (p.Thr247=) n.3140G>A c.2784G>A (p.Thr928=) c.1830G>A (n.1830G>A) c.35G>A c.744G>A (p.Thr248=) c.286G>A c.2787G>A (p.Thr929=) c.2769G>A (p.Thr923=) c.2607G>A (p.Thr869=) c.2715G>A (p.Thr905=) c.2697G>A (p.Thr899=) c.2421G>A (p.Thr807=) n.2996G>A c.2589G>A (p.Thr863=) c.2403G>A (p.Thr801=) n.2999G>A c.2694G>A (p.Thr898=) c.2760G>A (p.Thr920=) c.2712G>A (p.Thr904=) c.2577G>A (p.Thr859=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28835629G>C | CA494868652 | ATXN2L | c.2766G>C (p.Thr922=) c.741G>C (p.Thr247=) n.3140G>C c.2784G>C (p.Thr928=) c.1830G>C (n.1830G>C) c.35G>C c.744G>C (p.Thr248=) c.286G>C c.2787G>C (p.Thr929=) c.2769G>C (p.Thr923=) c.2607G>C (p.Thr869=) c.2715G>C (p.Thr905=) c.2697G>C (p.Thr899=) c.2421G>C (p.Thr807=) n.2996G>C c.2589G>C (p.Thr863=) c.2403G>C (p.Thr801=) n.2999G>C c.2694G>C (p.Thr898=) c.2760G>C (p.Thr920=) c.2712G>C (p.Thr904=) c.2577G>C (p.Thr859=) | |
16 | g.28835629G= | CA2215806335 | ATXN2L | c.2766G= (p.Thr922=) c.741G= (p.Thr247=) n.3140G= c.2784G= (p.Thr928=) c.1830G= (n.1830G=) c.35G= c.744G= (p.Thr248=) c.286G= c.2787G= (p.Thr929=) c.2769G= (p.Thr923=) c.2607G= (p.Thr869=) c.2715G= (p.Thr905=) c.2697G= (p.Thr899=) c.2421G= (p.Thr807=) n.2996G= c.2589G= (p.Thr863=) c.2403G= (p.Thr801=) n.2999G= c.2694G= (p.Thr898=) c.2760G= (p.Thr920=) c.2712G= (p.Thr904=) c.2577G= (p.Thr859=) | |
16 | g.28835629G>T | CA494868651 | ATXN2L | c.2766G>T (p.Thr922=) c.741G>T (p.Thr247=) n.3140G>T c.2784G>T (p.Thr928=) c.1830G>T (n.1830G>T) c.35G>T c.744G>T (p.Thr248=) c.286G>T c.2787G>T (p.Thr929=) c.2769G>T (p.Thr923=) c.2607G>T (p.Thr869=) c.2715G>T (p.Thr905=) c.2697G>T (p.Thr899=) c.2421G>T (p.Thr807=) n.2996G>T c.2589G>T (p.Thr863=) c.2403G>T (p.Thr801=) n.2999G>T c.2694G>T (p.Thr898=) c.2760G>T (p.Thr920=) c.2712G>T (p.Thr904=) c.2577G>T (p.Thr859=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835630C>A | CA395408233 | ATXN2L | c.2767C>A (p.Pro923Thr) c.742C>A (p.Pro248Thr) n.3141C>A c.2785C>A (p.Pro929Thr) c.1831C>A (n.1831C>A) c.36C>A c.745C>A (p.Pro249Thr) c.287C>A c.2788C>A (p.Pro930Thr) c.2770C>A (p.Pro924Thr) c.2608C>A (p.Pro870Thr) c.2716C>A (p.Pro906Thr) c.2698C>A (p.Pro900Thr) c.2422C>A (p.Pro808Thr) n.2997C>A c.2590C>A (p.Pro864Thr) c.2404C>A (p.Pro802Thr) n.3000C>A c.2695C>A (p.Pro899Thr) c.2761C>A (p.Pro921Thr) c.2713C>A (p.Pro905Thr) c.2578C>A (p.Pro860Thr) | |
16 | g.28835630C>G | CA395408234 | ATXN2L | c.2767C>G (p.Pro923Ala) c.742C>G (p.Pro248Ala) n.3141C>G c.2785C>G (p.Pro929Ala) c.1831C>G (n.1831C>G) c.36C>G c.745C>G (p.Pro249Ala) c.287C>G c.2788C>G (p.Pro930Ala) c.2770C>G (p.Pro924Ala) c.2608C>G (p.Pro870Ala) c.2716C>G (p.Pro906Ala) c.2698C>G (p.Pro900Ala) c.2422C>G (p.Pro808Ala) n.2997C>G c.2590C>G (p.Pro864Ala) c.2404C>G (p.Pro802Ala) n.3000C>G c.2695C>G (p.Pro899Ala) c.2761C>G (p.Pro921Ala) c.2713C>G (p.Pro905Ala) c.2578C>G (p.Pro860Ala) | |
16 | g.28835630C>T | CA395408235 | ATXN2L | c.2767C>T (p.Pro923Ser) c.742C>T (p.Pro248Ser) n.3141C>T c.2785C>T (p.Pro929Ser) c.1831C>T (n.1831C>T) c.36C>T c.745C>T (p.Pro249Ser) c.287C>T c.2788C>T (p.Pro930Ser) c.2770C>T (p.Pro924Ser) c.2608C>T (p.Pro870Ser) c.2716C>T (p.Pro906Ser) c.2698C>T (p.Pro900Ser) c.2422C>T (p.Pro808Ser) n.2997C>T c.2590C>T (p.Pro864Ser) c.2404C>T (p.Pro802Ser) n.3000C>T c.2695C>T (p.Pro899Ser) c.2761C>T (p.Pro921Ser) c.2713C>T (p.Pro905Ser) c.2578C>T (p.Pro860Ser) | |
16 | g.28835631C>A | CA395408236 | ATXN2L | c.2768C>A (p.Pro923Gln) c.743C>A (p.Pro248Gln) n.3142C>A c.2786C>A (p.Pro929Gln) c.1832C>A (n.1832C>A) c.37C>A c.746C>A (p.Pro249Gln) c.288C>A c.2789C>A (p.Pro930Gln) c.2771C>A (p.Pro924Gln) c.2609C>A (p.Pro870Gln) c.2717C>A (p.Pro906Gln) c.2699C>A (p.Pro900Gln) c.2423C>A (p.Pro808Gln) n.2998C>A c.2591C>A (p.Pro864Gln) c.2405C>A (p.Pro802Gln) n.3001C>A c.2696C>A (p.Pro899Gln) c.2762C>A (p.Pro921Gln) c.2714C>A (p.Pro905Gln) c.2579C>A (p.Pro860Gln) | gnomAD v4 |
16 | g.28835631C= | CA2215806341 | ATXN2L | c.2768C= (p.Pro923=) c.743C= (p.Pro248=) n.3142C= c.2786C= (p.Pro929=) c.1832C= (n.1832C=) c.37C= c.746C= (p.Pro249=) c.288C= c.2789C= (p.Pro930=) c.2771C= (p.Pro924=) c.2609C= (p.Pro870=) c.2717C= (p.Pro906=) c.2699C= (p.Pro900=) c.2423C= (p.Pro808=) n.2998C= c.2591C= (p.Pro864=) c.2405C= (p.Pro802=) n.3001C= c.2696C= (p.Pro899=) c.2762C= (p.Pro921=) c.2714C= (p.Pro905=) c.2579C= (p.Pro860=) | |
16 | g.28835631C>G | CA395408237 | ATXN2L | c.2768C>G (p.Pro923Arg) c.743C>G (p.Pro248Arg) n.3142C>G c.2786C>G (p.Pro929Arg) c.1832C>G (n.1832C>G) c.37C>G c.746C>G (p.Pro249Arg) c.288C>G c.2789C>G (p.Pro930Arg) c.2771C>G (p.Pro924Arg) c.2609C>G (p.Pro870Arg) c.2717C>G (p.Pro906Arg) c.2699C>G (p.Pro900Arg) c.2423C>G (p.Pro808Arg) n.2998C>G c.2591C>G (p.Pro864Arg) c.2405C>G (p.Pro802Arg) n.3001C>G c.2696C>G (p.Pro899Arg) c.2762C>G (p.Pro921Arg) c.2714C>G (p.Pro905Arg) c.2579C>G (p.Pro860Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835631C>T | CA395408238 | ATXN2L | c.2768C>T (p.Pro923Leu) c.743C>T (p.Pro248Leu) n.3142C>T c.2786C>T (p.Pro929Leu) c.1832C>T (n.1832C>T) c.37C>T c.746C>T (p.Pro249Leu) c.288C>T c.2789C>T (p.Pro930Leu) c.2771C>T (p.Pro924Leu) c.2609C>T (p.Pro870Leu) c.2717C>T (p.Pro906Leu) c.2699C>T (p.Pro900Leu) c.2423C>T (p.Pro808Leu) n.2998C>T c.2591C>T (p.Pro864Leu) c.2405C>T (p.Pro802Leu) n.3001C>T c.2696C>T (p.Pro899Leu) c.2762C>T (p.Pro921Leu) c.2714C>T (p.Pro905Leu) c.2579C>T (p.Pro860Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835632G>A | CA7985090 | ATXN2L | c.2769G>A (p.Pro923=) c.744G>A (p.Pro248=) n.3143G>A c.2787G>A (p.Pro929=) c.1833G>A (n.1833G>A) c.38G>A c.747G>A (p.Pro249=) c.289G>A c.2790G>A (p.Pro930=) c.2772G>A (p.Pro924=) c.2610G>A (p.Pro870=) c.2718G>A (p.Pro906=) c.2700G>A (p.Pro900=) c.2424G>A (p.Pro808=) n.2999G>A c.2592G>A (p.Pro864=) c.2406G>A (p.Pro802=) n.3002G>A c.2697G>A (p.Pro899=) c.2763G>A (p.Pro921=) c.2715G>A (p.Pro905=) c.2580G>A (p.Pro860=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835632G>C | CA494868679 | ATXN2L | c.2769G>C (p.Pro923=) c.744G>C (p.Pro248=) n.3143G>C c.2787G>C (p.Pro929=) c.1833G>C (n.1833G>C) c.38G>C c.747G>C (p.Pro249=) c.289G>C c.2790G>C (p.Pro930=) c.2772G>C (p.Pro924=) c.2610G>C (p.Pro870=) c.2718G>C (p.Pro906=) c.2700G>C (p.Pro900=) c.2424G>C (p.Pro808=) n.2999G>C c.2592G>C (p.Pro864=) c.2406G>C (p.Pro802=) n.3002G>C c.2697G>C (p.Pro899=) c.2763G>C (p.Pro921=) c.2715G>C (p.Pro905=) c.2580G>C (p.Pro860=) | |
16 | g.28835632G= | CA2215806348 | ATXN2L | c.2769G= (p.Pro923=) c.744G= (p.Pro248=) n.3143G= c.2787G= (p.Pro929=) c.1833G= (n.1833G=) c.38G= c.747G= (p.Pro249=) c.289G= c.2790G= (p.Pro930=) c.2772G= (p.Pro924=) c.2610G= (p.Pro870=) c.2718G= (p.Pro906=) c.2700G= (p.Pro900=) c.2424G= (p.Pro808=) n.2999G= c.2592G= (p.Pro864=) c.2406G= (p.Pro802=) n.3002G= c.2697G= (p.Pro899=) c.2763G= (p.Pro921=) c.2715G= (p.Pro905=) c.2580G= (p.Pro860=) | |
16 | g.28835632G>T | CA279230758 | ATXN2L | c.2769G>T (p.Pro923=) c.744G>T (p.Pro248=) n.3143G>T c.2787G>T (p.Pro929=) c.1833G>T (n.1833G>T) c.38G>T c.747G>T (p.Pro249=) c.289G>T c.2790G>T (p.Pro930=) c.2772G>T (p.Pro924=) c.2610G>T (p.Pro870=) c.2718G>T (p.Pro906=) c.2700G>T (p.Pro900=) c.2424G>T (p.Pro808=) n.2999G>T c.2592G>T (p.Pro864=) c.2406G>T (p.Pro802=) n.3002G>T c.2697G>T (p.Pro899=) c.2763G>T (p.Pro921=) c.2715G>T (p.Pro905=) c.2580G>T (p.Pro860=) | dbSNP |
16 | g.28835633C>A | CA395408240 | ATXN2L | c.2770C>A (p.Pro924Thr) c.745C>A (p.Pro249Thr) n.3144C>A c.2788C>A (p.Pro930Thr) c.1834C>A (n.1834C>A) c.39C>A c.748C>A (p.Pro250Thr) c.290C>A c.2791C>A (p.Pro931Thr) c.2773C>A (p.Pro925Thr) c.2611C>A (p.Pro871Thr) c.2719C>A (p.Pro907Thr) c.2701C>A (p.Pro901Thr) c.2425C>A (p.Pro809Thr) n.3000C>A c.2593C>A (p.Pro865Thr) c.2407C>A (p.Pro803Thr) n.3003C>A c.2698C>A (p.Pro900Thr) c.2764C>A (p.Pro922Thr) c.2716C>A (p.Pro906Thr) c.2581C>A (p.Pro861Thr) | |
16 | g.28835633C>G | CA395408241 | ATXN2L | c.2770C>G (p.Pro924Ala) c.745C>G (p.Pro249Ala) n.3144C>G c.2788C>G (p.Pro930Ala) c.1834C>G (n.1834C>G) c.39C>G c.748C>G (p.Pro250Ala) c.290C>G c.2791C>G (p.Pro931Ala) c.2773C>G (p.Pro925Ala) c.2611C>G (p.Pro871Ala) c.2719C>G (p.Pro907Ala) c.2701C>G (p.Pro901Ala) c.2425C>G (p.Pro809Ala) n.3000C>G c.2593C>G (p.Pro865Ala) c.2407C>G (p.Pro803Ala) n.3003C>G c.2698C>G (p.Pro900Ala) c.2764C>G (p.Pro922Ala) c.2716C>G (p.Pro906Ala) c.2581C>G (p.Pro861Ala) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28835633C>T | CA395408239 | ATXN2L | c.2770C>T (p.Pro924Ser) c.745C>T (p.Pro249Ser) n.3144C>T c.2788C>T (p.Pro930Ser) c.1834C>T (n.1834C>T) c.39C>T c.748C>T (p.Pro250Ser) c.290C>T c.2791C>T (p.Pro931Ser) c.2773C>T (p.Pro925Ser) c.2611C>T (p.Pro871Ser) c.2719C>T (p.Pro907Ser) c.2701C>T (p.Pro901Ser) c.2425C>T (p.Pro809Ser) n.3000C>T c.2593C>T (p.Pro865Ser) c.2407C>T (p.Pro803Ser) n.3003C>T c.2698C>T (p.Pro900Ser) c.2764C>T (p.Pro922Ser) c.2716C>T (p.Pro906Ser) c.2581C>T (p.Pro861Ser) | gnomAD v4 |
16 | g.28835634C>A | CA395408242 | ATXN2L | c.2771C>A (p.Pro924His) c.746C>A (p.Pro249His) n.3145C>A c.2789C>A (p.Pro930His) c.1835C>A (n.1835C>A) c.40C>A c.749C>A (p.Pro250His) c.291C>A c.2792C>A (p.Pro931His) c.2774C>A (p.Pro925His) c.2612C>A (p.Pro871His) c.2720C>A (p.Pro907His) c.2702C>A (p.Pro901His) c.2426C>A (p.Pro809His) n.3001C>A c.2594C>A (p.Pro865His) c.2408C>A (p.Pro803His) n.3004C>A c.2699C>A (p.Pro900His) c.2765C>A (p.Pro922His) c.2717C>A (p.Pro906His) c.2582C>A (p.Pro861His) | |
16 | g.28835634C= | CA2215806353 | ATXN2L | c.2771C= (p.Pro924=) c.746C= (p.Pro249=) n.3145C= c.2789C= (p.Pro930=) c.1835C= (n.1835C=) c.40C= c.749C= (p.Pro250=) c.291C= c.2792C= (p.Pro931=) c.2774C= (p.Pro925=) c.2612C= (p.Pro871=) c.2720C= (p.Pro907=) c.2702C= (p.Pro901=) c.2426C= (p.Pro809=) n.3001C= c.2594C= (p.Pro865=) c.2408C= (p.Pro803=) n.3004C= c.2699C= (p.Pro900=) c.2765C= (p.Pro922=) c.2717C= (p.Pro906=) c.2582C= (p.Pro861=) | |
16 | g.28835634C>G | CA395408243 | ATXN2L | c.2771C>G (p.Pro924Arg) c.746C>G (p.Pro249Arg) n.3145C>G c.2789C>G (p.Pro930Arg) c.1835C>G (n.1835C>G) c.40C>G c.749C>G (p.Pro250Arg) c.291C>G c.2792C>G (p.Pro931Arg) c.2774C>G (p.Pro925Arg) c.2612C>G (p.Pro871Arg) c.2720C>G (p.Pro907Arg) c.2702C>G (p.Pro901Arg) c.2426C>G (p.Pro809Arg) n.3001C>G c.2594C>G (p.Pro865Arg) c.2408C>G (p.Pro803Arg) n.3004C>G c.2699C>G (p.Pro900Arg) c.2765C>G (p.Pro922Arg) c.2717C>G (p.Pro906Arg) c.2582C>G (p.Pro861Arg) | |
16 | g.28835634C>T | CA395408244 | ATXN2L | c.2771C>T (p.Pro924Leu) c.746C>T (p.Pro249Leu) n.3145C>T c.2789C>T (p.Pro930Leu) c.1835C>T (n.1835C>T) c.40C>T c.749C>T (p.Pro250Leu) c.291C>T c.2792C>T (p.Pro931Leu) c.2774C>T (p.Pro925Leu) c.2612C>T (p.Pro871Leu) c.2720C>T (p.Pro907Leu) c.2702C>T (p.Pro901Leu) c.2426C>T (p.Pro809Leu) n.3001C>T c.2594C>T (p.Pro865Leu) c.2408C>T (p.Pro803Leu) n.3004C>T c.2699C>T (p.Pro900Leu) c.2765C>T (p.Pro922Leu) c.2717C>T (p.Pro906Leu) c.2582C>T (p.Pro861Leu) | dbSNP gnomAD v2 |
16 | g.28835635C>A | CA494868702 | ATXN2L | c.2772C>A (p.Pro924=) c.747C>A (p.Pro249=) n.3146C>A c.2790C>A (p.Pro930=) c.1836C>A (n.1836C>A) c.41C>A c.750C>A (p.Pro250=) c.292C>A c.2793C>A (p.Pro931=) c.2775C>A (p.Pro925=) c.2613C>A (p.Pro871=) c.2721C>A (p.Pro907=) c.2703C>A (p.Pro901=) c.2427C>A (p.Pro809=) n.3002C>A c.2595C>A (p.Pro865=) c.2409C>A (p.Pro803=) n.3005C>A c.2700C>A (p.Pro900=) c.2766C>A (p.Pro922=) c.2718C>A (p.Pro906=) c.2583C>A (p.Pro861=) | |
16 | g.28835635C= | CA2215806356 | ATXN2L | c.2772C= (p.Pro924=) c.747C= (p.Pro249=) n.3146C= c.2790C= (p.Pro930=) c.1836C= (n.1836C=) c.41C= c.750C= (p.Pro250=) c.292C= c.2793C= (p.Pro931=) c.2775C= (p.Pro925=) c.2613C= (p.Pro871=) c.2721C= (p.Pro907=) c.2703C= (p.Pro901=) c.2427C= (p.Pro809=) n.3002C= c.2595C= (p.Pro865=) c.2409C= (p.Pro803=) n.3005C= c.2700C= (p.Pro900=) c.2766C= (p.Pro922=) c.2718C= (p.Pro906=) c.2583C= (p.Pro861=) | |
16 | g.28835635C>G | CA494868704 | ATXN2L | c.2772C>G (p.Pro924=) c.747C>G (p.Pro249=) n.3146C>G c.2790C>G (p.Pro930=) c.1836C>G (n.1836C>G) c.41C>G c.750C>G (p.Pro250=) c.292C>G c.2793C>G (p.Pro931=) c.2775C>G (p.Pro925=) c.2613C>G (p.Pro871=) c.2721C>G (p.Pro907=) c.2703C>G (p.Pro901=) c.2427C>G (p.Pro809=) n.3002C>G c.2595C>G (p.Pro865=) c.2409C>G (p.Pro803=) n.3005C>G c.2700C>G (p.Pro900=) c.2766C>G (p.Pro922=) c.2718C>G (p.Pro906=) c.2583C>G (p.Pro861=) | |
16 | g.28835635C>T | CA7985091 | ATXN2L | c.2772C>T (p.Pro924=) c.747C>T (p.Pro249=) n.3146C>T c.2790C>T (p.Pro930=) c.1836C>T (n.1836C>T) c.41C>T c.750C>T (p.Pro250=) c.292C>T c.2793C>T (p.Pro931=) c.2775C>T (p.Pro925=) c.2613C>T (p.Pro871=) c.2721C>T (p.Pro907=) c.2703C>T (p.Pro901=) c.2427C>T (p.Pro809=) n.3002C>T c.2595C>T (p.Pro865=) c.2409C>T (p.Pro803=) n.3005C>T c.2700C>T (p.Pro900=) c.2766C>T (p.Pro922=) c.2718C>T (p.Pro906=) c.2583C>T (p.Pro861=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835636T>A | CA395408245 | ATXN2L | c.2773T>A (p.Ser925Thr) c.748T>A (p.Ser250Thr) n.3147T>A c.2791T>A (p.Ser931Thr) c.1837T>A (n.1837T>A) c.42T>A c.751T>A (p.Ser251Thr) c.293T>A c.2794T>A (p.Ser932Thr) c.2776T>A (p.Ser926Thr) c.2614T>A (p.Ser872Thr) c.2722T>A (p.Ser908Thr) c.2704T>A (p.Ser902Thr) c.2428T>A (p.Ser810Thr) n.3003T>A c.2596T>A (p.Ser866Thr) c.2410T>A (p.Ser804Thr) n.3006T>A c.2701T>A (p.Ser901Thr) c.2767T>A (p.Ser923Thr) c.2719T>A (p.Ser907Thr) c.2584T>A (p.Ser862Thr) | |
16 | g.28835636T>C | CA395408246 | ATXN2L | c.2773T>C (p.Ser925Pro) c.748T>C (p.Ser250Pro) n.3147T>C c.2791T>C (p.Ser931Pro) c.1837T>C (n.1837T>C) c.42T>C c.751T>C (p.Ser251Pro) c.293T>C c.2794T>C (p.Ser932Pro) c.2776T>C (p.Ser926Pro) c.2614T>C (p.Ser872Pro) c.2722T>C (p.Ser908Pro) c.2704T>C (p.Ser902Pro) c.2428T>C (p.Ser810Pro) n.3003T>C c.2596T>C (p.Ser866Pro) c.2410T>C (p.Ser804Pro) n.3006T>C c.2701T>C (p.Ser901Pro) c.2767T>C (p.Ser923Pro) c.2719T>C (p.Ser907Pro) c.2584T>C (p.Ser862Pro) | |
16 | g.28835636T>G | CA395408247 | ATXN2L | c.2773T>G (p.Ser925Ala) c.748T>G (p.Ser250Ala) n.3147T>G c.2791T>G (p.Ser931Ala) c.1837T>G (n.1837T>G) c.42T>G c.751T>G (p.Ser251Ala) c.293T>G c.2794T>G (p.Ser932Ala) c.2776T>G (p.Ser926Ala) c.2614T>G (p.Ser872Ala) c.2722T>G (p.Ser908Ala) c.2704T>G (p.Ser902Ala) c.2428T>G (p.Ser810Ala) n.3003T>G c.2596T>G (p.Ser866Ala) c.2410T>G (p.Ser804Ala) n.3006T>G c.2701T>G (p.Ser901Ala) c.2767T>G (p.Ser923Ala) c.2719T>G (p.Ser907Ala) c.2584T>G (p.Ser862Ala) | |
16 | g.28835637C>A | CA395408248 | ATXN2L | c.2774C>A (p.Ser925Tyr) c.749C>A (p.Ser250Tyr) n.3148C>A c.2792C>A (p.Ser931Tyr) c.1838C>A (n.1838C>A) c.43C>A c.752C>A (p.Ser251Tyr) c.294C>A c.2795C>A (p.Ser932Tyr) c.2777C>A (p.Ser926Tyr) c.2615C>A (p.Ser872Tyr) c.2723C>A (p.Ser908Tyr) c.2705C>A (p.Ser902Tyr) c.2429C>A (p.Ser810Tyr) n.3004C>A c.2597C>A (p.Ser866Tyr) c.2411C>A (p.Ser804Tyr) n.3007C>A c.2702C>A (p.Ser901Tyr) c.2768C>A (p.Ser923Tyr) c.2720C>A (p.Ser907Tyr) c.2585C>A (p.Ser862Tyr) | |
16 | g.28835637C>G | CA395408249 | ATXN2L | c.2774C>G (p.Ser925Cys) c.749C>G (p.Ser250Cys) n.3148C>G c.2792C>G (p.Ser931Cys) c.1838C>G (n.1838C>G) c.43C>G c.752C>G (p.Ser251Cys) c.294C>G c.2795C>G (p.Ser932Cys) c.2777C>G (p.Ser926Cys) c.2615C>G (p.Ser872Cys) c.2723C>G (p.Ser908Cys) c.2705C>G (p.Ser902Cys) c.2429C>G (p.Ser810Cys) n.3004C>G c.2597C>G (p.Ser866Cys) c.2411C>G (p.Ser804Cys) n.3007C>G c.2702C>G (p.Ser901Cys) c.2768C>G (p.Ser923Cys) c.2720C>G (p.Ser907Cys) c.2585C>G (p.Ser862Cys) | |
16 | g.28835637C>T | CA395408250 | ATXN2L | c.2774C>T (p.Ser925Phe) c.749C>T (p.Ser250Phe) n.3148C>T c.2792C>T (p.Ser931Phe) c.1838C>T (n.1838C>T) c.43C>T c.752C>T (p.Ser251Phe) c.294C>T c.2795C>T (p.Ser932Phe) c.2777C>T (p.Ser926Phe) c.2615C>T (p.Ser872Phe) c.2723C>T (p.Ser908Phe) c.2705C>T (p.Ser902Phe) c.2429C>T (p.Ser810Phe) n.3004C>T c.2597C>T (p.Ser866Phe) c.2411C>T (p.Ser804Phe) n.3007C>T c.2702C>T (p.Ser901Phe) c.2768C>T (p.Ser923Phe) c.2720C>T (p.Ser907Phe) c.2585C>T (p.Ser862Phe) | |
16 | g.28835638T>A | CA494868723 | ATXN2L | c.2775T>A (p.Ser925=) c.750T>A (p.Ser250=) n.3149T>A c.2793T>A (p.Ser931=) c.1839T>A (n.1839T>A) c.44T>A c.753T>A (p.Ser251=) c.295T>A c.2796T>A (p.Ser932=) c.2778T>A (p.Ser926=) c.2616T>A (p.Ser872=) c.2724T>A (p.Ser908=) c.2706T>A (p.Ser902=) c.2430T>A (p.Ser810=) n.3005T>A c.2598T>A (p.Ser866=) c.2412T>A (p.Ser804=) n.3008T>A c.2703T>A (p.Ser901=) c.2769T>A (p.Ser923=) c.2721T>A (p.Ser907=) c.2586T>A (p.Ser862=) | |
16 | g.28835638T>C | CA494868724 | ATXN2L | c.2775T>C (p.Ser925=) c.750T>C (p.Ser250=) n.3149T>C c.2793T>C (p.Ser931=) c.1839T>C (n.1839T>C) c.44T>C c.753T>C (p.Ser251=) c.295T>C c.2796T>C (p.Ser932=) c.2778T>C (p.Ser926=) c.2616T>C (p.Ser872=) c.2724T>C (p.Ser908=) c.2706T>C (p.Ser902=) c.2430T>C (p.Ser810=) n.3005T>C c.2598T>C (p.Ser866=) c.2412T>C (p.Ser804=) n.3008T>C c.2703T>C (p.Ser901=) c.2769T>C (p.Ser923=) c.2721T>C (p.Ser907=) c.2586T>C (p.Ser862=) | dbSNP gnomAD v4 |
16 | g.28835638T>G | CA494868727 | ATXN2L | c.2775T>G (p.Ser925=) c.750T>G (p.Ser250=) n.3149T>G c.2793T>G (p.Ser931=) c.1839T>G (n.1839T>G) c.44T>G c.753T>G (p.Ser251=) c.295T>G c.2796T>G (p.Ser932=) c.2778T>G (p.Ser926=) c.2616T>G (p.Ser872=) c.2724T>G (p.Ser908=) c.2706T>G (p.Ser902=) c.2430T>G (p.Ser810=) n.3005T>G c.2598T>G (p.Ser866=) c.2412T>G (p.Ser804=) n.3008T>G c.2703T>G (p.Ser901=) c.2769T>G (p.Ser923=) c.2721T>G (p.Ser907=) c.2586T>G (p.Ser862=) | |
16 | g.28835638T= | CA2215806359 | ATXN2L | c.2775T= (p.Ser925=) c.750T= (p.Ser250=) n.3149T= c.2793T= (p.Ser931=) c.1839T= (n.1839T=) c.44T= c.753T= (p.Ser251=) c.295T= c.2796T= (p.Ser932=) c.2778T= (p.Ser926=) c.2616T= (p.Ser872=) c.2724T= (p.Ser908=) c.2706T= (p.Ser902=) c.2430T= (p.Ser810=) n.3005T= c.2598T= (p.Ser866=) c.2412T= (p.Ser804=) n.3008T= c.2703T= (p.Ser901=) c.2769T= (p.Ser923=) c.2721T= (p.Ser907=) c.2586T= (p.Ser862=) | |
16 | g.28835639C>A | CA395408251 | ATXN2L | c.2776C>A (p.Leu926Met) c.751C>A (p.Leu251Met) n.3150C>A c.2794C>A (p.Leu932Met) c.1840C>A (n.1840C>A) c.45C>A c.754C>A (p.Leu252Met) c.296C>A c.2797C>A (p.Leu933Met) c.2779C>A (p.Leu927Met) c.2617C>A (p.Leu873Met) c.2725C>A (p.Leu909Met) c.2707C>A (p.Leu903Met) c.2431C>A (p.Leu811Met) n.3006C>A c.2599C>A (p.Leu867Met) c.2413C>A (p.Leu805Met) n.3009C>A c.2704C>A (p.Leu902Met) c.2770C>A (p.Leu924Met) c.2722C>A (p.Leu908Met) c.2587C>A (p.Leu863Met) | |
16 | g.28835639C= | CA2215806364 | ATXN2L | c.2776C= (p.Leu926=) c.751C= (p.Leu251=) n.3150C= c.2794C= (p.Leu932=) c.1840C= (n.1840C=) c.45C= c.754C= (p.Leu252=) c.296C= c.2797C= (p.Leu933=) c.2779C= (p.Leu927=) c.2617C= (p.Leu873=) c.2725C= (p.Leu909=) c.2707C= (p.Leu903=) c.2431C= (p.Leu811=) n.3006C= c.2599C= (p.Leu867=) c.2413C= (p.Leu805=) n.3009C= c.2704C= (p.Leu902=) c.2770C= (p.Leu924=) c.2722C= (p.Leu908=) c.2587C= (p.Leu863=) | |
16 | g.28835639C>G | CA395408252 | ATXN2L | c.2776C>G (p.Leu926Val) c.751C>G (p.Leu251Val) n.3150C>G c.2794C>G (p.Leu932Val) c.1840C>G (n.1840C>G) c.45C>G c.754C>G (p.Leu252Val) c.296C>G c.2797C>G (p.Leu933Val) c.2779C>G (p.Leu927Val) c.2617C>G (p.Leu873Val) c.2725C>G (p.Leu909Val) c.2707C>G (p.Leu903Val) c.2431C>G (p.Leu811Val) n.3006C>G c.2599C>G (p.Leu867Val) c.2413C>G (p.Leu805Val) n.3009C>G c.2704C>G (p.Leu902Val) c.2770C>G (p.Leu924Val) c.2722C>G (p.Leu908Val) c.2587C>G (p.Leu863Val) | |
16 | g.28835639C>T | CA494868737 | ATXN2L | c.2776C>T (p.Leu926=) c.751C>T (p.Leu251=) n.3150C>T c.2794C>T (p.Leu932=) c.1840C>T (n.1840C>T) c.45C>T c.754C>T (p.Leu252=) c.296C>T c.2797C>T (p.Leu933=) c.2779C>T (p.Leu927=) c.2617C>T (p.Leu873=) c.2725C>T (p.Leu909=) c.2707C>T (p.Leu903=) c.2431C>T (p.Leu811=) n.3006C>T c.2599C>T (p.Leu867=) c.2413C>T (p.Leu805=) n.3009C>T c.2704C>T (p.Leu902=) c.2770C>T (p.Leu924=) c.2722C>T (p.Leu908=) c.2587C>T (p.Leu863=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835640T>A | CA395408255 | ATXN2L | c.2777T>A (p.Leu926Gln) c.752T>A (p.Leu251Gln) n.3151T>A c.2795T>A (p.Leu932Gln) c.1841T>A (n.1841T>A) c.46T>A c.755T>A (p.Leu252Gln) c.297T>A c.2798T>A (p.Leu933Gln) c.2780T>A (p.Leu927Gln) c.2618T>A (p.Leu873Gln) c.2726T>A (p.Leu909Gln) c.2708T>A (p.Leu903Gln) c.2432T>A (p.Leu811Gln) n.3007T>A c.2600T>A (p.Leu867Gln) c.2414T>A (p.Leu805Gln) n.3010T>A c.2705T>A (p.Leu902Gln) c.2771T>A (p.Leu924Gln) c.2723T>A (p.Leu908Gln) c.2588T>A (p.Leu863Gln) | |
16 | g.28835640T>C | CA395408254 | ATXN2L | c.2777T>C (p.Leu926Pro) c.752T>C (p.Leu251Pro) n.3151T>C c.2795T>C (p.Leu932Pro) c.1841T>C (n.1841T>C) c.46T>C c.755T>C (p.Leu252Pro) c.297T>C c.2798T>C (p.Leu933Pro) c.2780T>C (p.Leu927Pro) c.2618T>C (p.Leu873Pro) c.2726T>C (p.Leu909Pro) c.2708T>C (p.Leu903Pro) c.2432T>C (p.Leu811Pro) n.3007T>C c.2600T>C (p.Leu867Pro) c.2414T>C (p.Leu805Pro) n.3010T>C c.2705T>C (p.Leu902Pro) c.2771T>C (p.Leu924Pro) c.2723T>C (p.Leu908Pro) c.2588T>C (p.Leu863Pro) | |
16 | g.28835640T>G | CA395408253 | ATXN2L | c.2777T>G (p.Leu926Arg) c.752T>G (p.Leu251Arg) n.3151T>G c.2795T>G (p.Leu932Arg) c.1841T>G (n.1841T>G) c.46T>G c.755T>G (p.Leu252Arg) c.297T>G c.2798T>G (p.Leu933Arg) c.2780T>G (p.Leu927Arg) c.2618T>G (p.Leu873Arg) c.2726T>G (p.Leu909Arg) c.2708T>G (p.Leu903Arg) c.2432T>G (p.Leu811Arg) n.3007T>G c.2600T>G (p.Leu867Arg) c.2414T>G (p.Leu805Arg) n.3010T>G c.2705T>G (p.Leu902Arg) c.2771T>G (p.Leu924Arg) c.2723T>G (p.Leu908Arg) c.2588T>G (p.Leu863Arg) | |
16 | g.28835641G>A | CA494868748 | ATXN2L | c.2778G>A (p.Leu926=) c.753G>A (p.Leu251=) n.3152G>A c.2796G>A (p.Leu932=) c.1842G>A (n.1842G>A) c.47G>A c.756G>A (p.Leu252=) c.298G>A c.2799G>A (p.Leu933=) c.2781G>A (p.Leu927=) c.2619G>A (p.Leu873=) c.2727G>A (p.Leu909=) c.2709G>A (p.Leu903=) c.2433G>A (p.Leu811=) n.3008G>A c.2601G>A (p.Leu867=) c.2415G>A (p.Leu805=) n.3011G>A c.2706G>A (p.Leu902=) c.2772G>A (p.Leu924=) c.2724G>A (p.Leu908=) c.2589G>A (p.Leu863=) | dbSNP |
16 | g.28835641G>C | CA494868752 | ATXN2L | c.2778G>C (p.Leu926=) c.753G>C (p.Leu251=) n.3152G>C c.2796G>C (p.Leu932=) c.1842G>C (n.1842G>C) c.47G>C c.756G>C (p.Leu252=) c.298G>C c.2799G>C (p.Leu933=) c.2781G>C (p.Leu927=) c.2619G>C (p.Leu873=) c.2727G>C (p.Leu909=) c.2709G>C (p.Leu903=) c.2433G>C (p.Leu811=) n.3008G>C c.2601G>C (p.Leu867=) c.2415G>C (p.Leu805=) n.3011G>C c.2706G>C (p.Leu902=) c.2772G>C (p.Leu924=) c.2724G>C (p.Leu908=) c.2589G>C (p.Leu863=) | |
16 | g.28835641G= | CA2215806368 | ATXN2L | c.2778G= (p.Leu926=) c.753G= (p.Leu251=) n.3152G= c.2796G= (p.Leu932=) c.1842G= (n.1842G=) c.47G= c.756G= (p.Leu252=) c.298G= c.2799G= (p.Leu933=) c.2781G= (p.Leu927=) c.2619G= (p.Leu873=) c.2727G= (p.Leu909=) c.2709G= (p.Leu903=) c.2433G= (p.Leu811=) n.3008G= c.2601G= (p.Leu867=) c.2415G= (p.Leu805=) n.3011G= c.2706G= (p.Leu902=) c.2772G= (p.Leu924=) c.2724G= (p.Leu908=) c.2589G= (p.Leu863=) | |
16 | g.28835641G>T | CA494868754 | ATXN2L | c.2778G>T (p.Leu926=) c.753G>T (p.Leu251=) n.3152G>T c.2796G>T (p.Leu932=) c.1842G>T (n.1842G>T) c.47G>T c.756G>T (p.Leu252=) c.298G>T c.2799G>T (p.Leu933=) c.2781G>T (p.Leu927=) c.2619G>T (p.Leu873=) c.2727G>T (p.Leu909=) c.2709G>T (p.Leu903=) c.2433G>T (p.Leu811=) n.3008G>T c.2601G>T (p.Leu867=) c.2415G>T (p.Leu805=) n.3011G>T c.2706G>T (p.Leu902=) c.2772G>T (p.Leu924=) c.2724G>T (p.Leu908=) c.2589G>T (p.Leu863=) | |
16 | g.28835642C>A | CA395408256 | ATXN2L | c.2779C>A (p.Pro927Thr) c.754C>A (p.Pro252Thr) n.3153C>A c.2797C>A (p.Pro933Thr) c.1843C>A (n.1843C>A) c.48C>A c.757C>A (p.Pro253Thr) c.299C>A c.2800C>A (p.Pro934Thr) c.2782C>A (p.Pro928Thr) c.2620C>A (p.Pro874Thr) c.2728C>A (p.Pro910Thr) c.2710C>A (p.Pro904Thr) c.2434C>A (p.Pro812Thr) n.3009C>A c.2602C>A (p.Pro868Thr) c.2416C>A (p.Pro806Thr) n.3012C>A c.2707C>A (p.Pro903Thr) c.2773C>A (p.Pro925Thr) c.2725C>A (p.Pro909Thr) c.2590C>A (p.Pro864Thr) | gnomAD v4 |
16 | g.28835642C>G | CA395408257 | ATXN2L | c.2779C>G (p.Pro927Ala) c.754C>G (p.Pro252Ala) n.3153C>G c.2797C>G (p.Pro933Ala) c.1843C>G (n.1843C>G) c.48C>G c.757C>G (p.Pro253Ala) c.299C>G c.2800C>G (p.Pro934Ala) c.2782C>G (p.Pro928Ala) c.2620C>G (p.Pro874Ala) c.2728C>G (p.Pro910Ala) c.2710C>G (p.Pro904Ala) c.2434C>G (p.Pro812Ala) n.3009C>G c.2602C>G (p.Pro868Ala) c.2416C>G (p.Pro806Ala) n.3012C>G c.2707C>G (p.Pro903Ala) c.2773C>G (p.Pro925Ala) c.2725C>G (p.Pro909Ala) c.2590C>G (p.Pro864Ala) | gnomAD v4 |
16 | g.28835642C>T | CA395408258 | ATXN2L | c.2779C>T (p.Pro927Ser) c.754C>T (p.Pro252Ser) n.3153C>T c.2797C>T (p.Pro933Ser) c.1843C>T (n.1843C>T) c.48C>T c.757C>T (p.Pro253Ser) c.299C>T c.2800C>T (p.Pro934Ser) c.2782C>T (p.Pro928Ser) c.2620C>T (p.Pro874Ser) c.2728C>T (p.Pro910Ser) c.2710C>T (p.Pro904Ser) c.2434C>T (p.Pro812Ser) n.3009C>T c.2602C>T (p.Pro868Ser) c.2416C>T (p.Pro806Ser) n.3012C>T c.2707C>T (p.Pro903Ser) c.2773C>T (p.Pro925Ser) c.2725C>T (p.Pro909Ser) c.2590C>T (p.Pro864Ser) | |
16 | g.28835643C>A | CA395408259 | ATXN2L | c.2780C>A (p.Pro927Gln) c.755C>A (p.Pro252Gln) n.3154C>A c.2798C>A (p.Pro933Gln) c.1844C>A (n.1844C>A) c.49C>A c.758C>A (p.Pro253Gln) c.300C>A c.2801C>A (p.Pro934Gln) c.2783C>A (p.Pro928Gln) c.2621C>A (p.Pro874Gln) c.2729C>A (p.Pro910Gln) c.2711C>A (p.Pro904Gln) c.2435C>A (p.Pro812Gln) n.3010C>A c.2603C>A (p.Pro868Gln) c.2417C>A (p.Pro806Gln) n.3013C>A c.2708C>A (p.Pro903Gln) c.2774C>A (p.Pro925Gln) c.2726C>A (p.Pro909Gln) c.2591C>A (p.Pro864Gln) | |
16 | g.28835643C= | CA2215806372 | ATXN2L | c.2780C= (p.Pro927=) c.755C= (p.Pro252=) n.3154C= c.2798C= (p.Pro933=) c.1844C= (n.1844C=) c.49C= c.758C= (p.Pro253=) c.300C= c.2801C= (p.Pro934=) c.2783C= (p.Pro928=) c.2621C= (p.Pro874=) c.2729C= (p.Pro910=) c.2711C= (p.Pro904=) c.2435C= (p.Pro812=) n.3010C= c.2603C= (p.Pro868=) c.2417C= (p.Pro806=) n.3013C= c.2708C= (p.Pro903=) c.2774C= (p.Pro925=) c.2726C= (p.Pro909=) c.2591C= (p.Pro864=) | |
16 | g.28835643C>G | CA395408260 | ATXN2L | c.2780C>G (p.Pro927Arg) c.755C>G (p.Pro252Arg) n.3154C>G c.2798C>G (p.Pro933Arg) c.1844C>G (n.1844C>G) c.49C>G c.758C>G (p.Pro253Arg) c.300C>G c.2801C>G (p.Pro934Arg) c.2783C>G (p.Pro928Arg) c.2621C>G (p.Pro874Arg) c.2729C>G (p.Pro910Arg) c.2711C>G (p.Pro904Arg) c.2435C>G (p.Pro812Arg) n.3010C>G c.2603C>G (p.Pro868Arg) c.2417C>G (p.Pro806Arg) n.3013C>G c.2708C>G (p.Pro903Arg) c.2774C>G (p.Pro925Arg) c.2726C>G (p.Pro909Arg) c.2591C>G (p.Pro864Arg) | |
16 | g.28835643C>T | CA395408261 | ATXN2L | c.2780C>T (p.Pro927Leu) c.755C>T (p.Pro252Leu) n.3154C>T c.2798C>T (p.Pro933Leu) c.1844C>T (n.1844C>T) c.49C>T c.758C>T (p.Pro253Leu) c.300C>T c.2801C>T (p.Pro934Leu) c.2783C>T (p.Pro928Leu) c.2621C>T (p.Pro874Leu) c.2729C>T (p.Pro910Leu) c.2711C>T (p.Pro904Leu) c.2435C>T (p.Pro812Leu) n.3010C>T c.2603C>T (p.Pro868Leu) c.2417C>T (p.Pro806Leu) n.3013C>T c.2708C>T (p.Pro903Leu) c.2774C>T (p.Pro925Leu) c.2726C>T (p.Pro909Leu) c.2591C>T (p.Pro864Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835644A= | CA2215806375 | ATXN2L | c.2781A= (p.Pro927=) c.756A= (p.Pro252=) n.3155A= c.2799A= (p.Pro933=) c.1845A= (n.1845A=) c.50A= c.759A= (p.Pro253=) c.301A= c.2802A= (p.Pro934=) c.2784A= (p.Pro928=) c.2622A= (p.Pro874=) c.2730A= (p.Pro910=) c.2712A= (p.Pro904=) c.2436A= (p.Pro812=) n.3011A= c.2604A= (p.Pro868=) c.2418A= (p.Pro806=) n.3014A= c.2709A= (p.Pro903=) c.2775A= (p.Pro925=) c.2727A= (p.Pro909=) c.2592A= (p.Pro864=) | |
16 | g.28835644A>C | CA7985092 | ATXN2L | c.2781A>C (p.Pro927=) c.756A>C (p.Pro252=) n.3155A>C c.2799A>C (p.Pro933=) c.1845A>C (n.1845A>C) c.50A>C c.759A>C (p.Pro253=) c.301A>C c.2802A>C (p.Pro934=) c.2784A>C (p.Pro928=) c.2622A>C (p.Pro874=) c.2730A>C (p.Pro910=) c.2712A>C (p.Pro904=) c.2436A>C (p.Pro812=) n.3011A>C c.2604A>C (p.Pro868=) c.2418A>C (p.Pro806=) n.3014A>C c.2709A>C (p.Pro903=) c.2775A>C (p.Pro925=) c.2727A>C (p.Pro909=) c.2592A>C (p.Pro864=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835644A>G | CA494868777 | ATXN2L | c.2781A>G (p.Pro927=) c.756A>G (p.Pro252=) n.3155A>G c.2799A>G (p.Pro933=) c.1845A>G (n.1845A>G) c.50A>G c.759A>G (p.Pro253=) c.301A>G c.2802A>G (p.Pro934=) c.2784A>G (p.Pro928=) c.2622A>G (p.Pro874=) c.2730A>G (p.Pro910=) c.2712A>G (p.Pro904=) c.2436A>G (p.Pro812=) n.3011A>G c.2604A>G (p.Pro868=) c.2418A>G (p.Pro806=) n.3014A>G c.2709A>G (p.Pro903=) c.2775A>G (p.Pro925=) c.2727A>G (p.Pro909=) c.2592A>G (p.Pro864=) | |
16 | g.28835644A>T | CA494868778 | ATXN2L | c.2781A>T (p.Pro927=) c.756A>T (p.Pro252=) n.3155A>T c.2799A>T (p.Pro933=) c.1845A>T (n.1845A>T) c.50A>T c.759A>T (p.Pro253=) c.301A>T c.2802A>T (p.Pro934=) c.2784A>T (p.Pro928=) c.2622A>T (p.Pro874=) c.2730A>T (p.Pro910=) c.2712A>T (p.Pro904=) c.2436A>T (p.Pro812=) n.3011A>T c.2604A>T (p.Pro868=) c.2418A>T (p.Pro806=) n.3014A>T c.2709A>T (p.Pro903=) c.2775A>T (p.Pro925=) c.2727A>T (p.Pro909=) c.2592A>T (p.Pro864=) | |
16 | g.28835645C>A | CA395408262 | ATXN2L | c.2782C>A (p.Pro928Thr) c.757C>A (p.Pro253Thr) n.3156C>A c.2800C>A (p.Pro934Thr) c.1846C>A (n.1846C>A) c.51C>A c.760C>A (p.Pro254Thr) c.302C>A c.2803C>A (p.Pro935Thr) c.2785C>A (p.Pro929Thr) c.2623C>A (p.Pro875Thr) c.2731C>A (p.Pro911Thr) c.2713C>A (p.Pro905Thr) c.2437C>A (p.Pro813Thr) n.3012C>A c.2605C>A (p.Pro869Thr) c.2419C>A (p.Pro807Thr) n.3015C>A c.2710C>A (p.Pro904Thr) c.2776C>A (p.Pro926Thr) c.2728C>A (p.Pro910Thr) c.2593C>A (p.Pro865Thr) | |
16 | g.28835645C>G | CA395408263 | ATXN2L | c.2782C>G (p.Pro928Ala) c.757C>G (p.Pro253Ala) n.3156C>G c.2800C>G (p.Pro934Ala) c.1846C>G (n.1846C>G) c.51C>G c.760C>G (p.Pro254Ala) c.302C>G c.2803C>G (p.Pro935Ala) c.2785C>G (p.Pro929Ala) c.2623C>G (p.Pro875Ala) c.2731C>G (p.Pro911Ala) c.2713C>G (p.Pro905Ala) c.2437C>G (p.Pro813Ala) n.3012C>G c.2605C>G (p.Pro869Ala) c.2419C>G (p.Pro807Ala) n.3015C>G c.2710C>G (p.Pro904Ala) c.2776C>G (p.Pro926Ala) c.2728C>G (p.Pro910Ala) c.2593C>G (p.Pro865Ala) | |
16 | g.28835645C>T | CA395408264 | ATXN2L | c.2782C>T (p.Pro928Ser) c.757C>T (p.Pro253Ser) n.3156C>T c.2800C>T (p.Pro934Ser) c.1846C>T (n.1846C>T) c.51C>T c.760C>T (p.Pro254Ser) c.302C>T c.2803C>T (p.Pro935Ser) c.2785C>T (p.Pro929Ser) c.2623C>T (p.Pro875Ser) c.2731C>T (p.Pro911Ser) c.2713C>T (p.Pro905Ser) c.2437C>T (p.Pro813Ser) n.3012C>T c.2605C>T (p.Pro869Ser) c.2419C>T (p.Pro807Ser) n.3015C>T c.2710C>T (p.Pro904Ser) c.2776C>T (p.Pro926Ser) c.2728C>T (p.Pro910Ser) c.2593C>T (p.Pro865Ser) | gnomAD v4 |
16 | g.28835646C>A | CA7985093 | ATXN2L | c.2783C>A (p.Pro928Gln) c.758C>A (p.Pro253Gln) n.3157C>A c.2801C>A (p.Pro934Gln) c.1847C>A (n.1847C>A) c.52C>A c.761C>A (p.Pro254Gln) c.303C>A c.2804C>A (p.Pro935Gln) c.2786C>A (p.Pro929Gln) c.2624C>A (p.Pro875Gln) c.2732C>A (p.Pro911Gln) c.2714C>A (p.Pro905Gln) c.2438C>A (p.Pro813Gln) n.3013C>A c.2606C>A (p.Pro869Gln) c.2420C>A (p.Pro807Gln) n.3016C>A c.2711C>A (p.Pro904Gln) c.2777C>A (p.Pro926Gln) c.2729C>A (p.Pro910Gln) c.2594C>A (p.Pro865Gln) | dbSNP ExAC gnomAD v2 |
16 | g.28835646C= | CA2215806378 | ATXN2L | c.2783C= (p.Pro928=) c.758C= (p.Pro253=) n.3157C= c.2801C= (p.Pro934=) c.1847C= (n.1847C=) c.52C= c.761C= (p.Pro254=) c.303C= c.2804C= (p.Pro935=) c.2786C= (p.Pro929=) c.2624C= (p.Pro875=) c.2732C= (p.Pro911=) c.2714C= (p.Pro905=) c.2438C= (p.Pro813=) n.3013C= c.2606C= (p.Pro869=) c.2420C= (p.Pro807=) n.3016C= c.2711C= (p.Pro904=) c.2777C= (p.Pro926=) c.2729C= (p.Pro910=) c.2594C= (p.Pro865=) | |
16 | g.28835646C>G | CA395408265 | ATXN2L | c.2783C>G (p.Pro928Arg) c.758C>G (p.Pro253Arg) n.3157C>G c.2801C>G (p.Pro934Arg) c.1847C>G (n.1847C>G) c.52C>G c.761C>G (p.Pro254Arg) c.303C>G c.2804C>G (p.Pro935Arg) c.2786C>G (p.Pro929Arg) c.2624C>G (p.Pro875Arg) c.2732C>G (p.Pro911Arg) c.2714C>G (p.Pro905Arg) c.2438C>G (p.Pro813Arg) n.3013C>G c.2606C>G (p.Pro869Arg) c.2420C>G (p.Pro807Arg) n.3016C>G c.2711C>G (p.Pro904Arg) c.2777C>G (p.Pro926Arg) c.2729C>G (p.Pro910Arg) c.2594C>G (p.Pro865Arg) | |
16 | g.28835646C>T | CA395408266 | ATXN2L | c.2783C>T (p.Pro928Leu) c.758C>T (p.Pro253Leu) n.3157C>T c.2801C>T (p.Pro934Leu) c.1847C>T (n.1847C>T) c.52C>T c.761C>T (p.Pro254Leu) c.303C>T c.2804C>T (p.Pro935Leu) c.2786C>T (p.Pro929Leu) c.2624C>T (p.Pro875Leu) c.2732C>T (p.Pro911Leu) c.2714C>T (p.Pro905Leu) c.2438C>T (p.Pro813Leu) n.3013C>T c.2606C>T (p.Pro869Leu) c.2420C>T (p.Pro807Leu) n.3016C>T c.2711C>T (p.Pro904Leu) c.2777C>T (p.Pro926Leu) c.2729C>T (p.Pro910Leu) c.2594C>T (p.Pro865Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835647G>A | CA494868798 | ATXN2L | c.2784G>A (p.Pro928=) c.759G>A (p.Pro253=) n.3158G>A c.2802G>A (p.Pro934=) c.1848G>A (n.1848G>A) c.53G>A c.762G>A (p.Pro254=) c.304G>A c.2805G>A (p.Pro935=) c.2787G>A (p.Pro929=) c.2625G>A (p.Pro875=) c.2733G>A (p.Pro911=) c.2715G>A (p.Pro905=) c.2439G>A (p.Pro813=) n.3014G>A c.2607G>A (p.Pro869=) c.2421G>A (p.Pro807=) n.3017G>A c.2712G>A (p.Pro904=) c.2778G>A (p.Pro926=) c.2730G>A (p.Pro910=) c.2595G>A (p.Pro865=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28835647G>C | CA494868800 | ATXN2L | c.2784G>C (p.Pro928=) c.759G>C (p.Pro253=) n.3158G>C c.2802G>C (p.Pro934=) c.1848G>C (n.1848G>C) c.53G>C c.762G>C (p.Pro254=) c.304G>C c.2805G>C (p.Pro935=) c.2787G>C (p.Pro929=) c.2625G>C (p.Pro875=) c.2733G>C (p.Pro911=) c.2715G>C (p.Pro905=) c.2439G>C (p.Pro813=) n.3014G>C c.2607G>C (p.Pro869=) c.2421G>C (p.Pro807=) n.3017G>C c.2712G>C (p.Pro904=) c.2778G>C (p.Pro926=) c.2730G>C (p.Pro910=) c.2595G>C (p.Pro865=) | |
16 | g.28835647G= | CA2215806385 | ATXN2L | c.2784G= (p.Pro928=) c.759G= (p.Pro253=) n.3158G= c.2802G= (p.Pro934=) c.1848G= (n.1848G=) c.53G= c.762G= (p.Pro254=) c.304G= c.2805G= (p.Pro935=) c.2787G= (p.Pro929=) c.2625G= (p.Pro875=) c.2733G= (p.Pro911=) c.2715G= (p.Pro905=) c.2439G= (p.Pro813=) n.3014G= c.2607G= (p.Pro869=) c.2421G= (p.Pro807=) n.3017G= c.2712G= (p.Pro904=) c.2778G= (p.Pro926=) c.2730G= (p.Pro910=) c.2595G= (p.Pro865=) | |
16 | g.28835647G>T | CA494868795 | ATXN2L | c.2784G>T (p.Pro928=) c.759G>T (p.Pro253=) n.3158G>T c.2802G>T (p.Pro934=) c.1848G>T (n.1848G>T) c.53G>T c.762G>T (p.Pro254=) c.304G>T c.2805G>T (p.Pro935=) c.2787G>T (p.Pro929=) c.2625G>T (p.Pro875=) c.2733G>T (p.Pro911=) c.2715G>T (p.Pro905=) c.2439G>T (p.Pro813=) n.3014G>T c.2607G>T (p.Pro869=) c.2421G>T (p.Pro807=) n.3017G>T c.2712G>T (p.Pro904=) c.2778G>T (p.Pro926=) c.2730G>T (p.Pro910=) c.2595G>T (p.Pro865=) | gnomAD v4 |
16 | g.28835648G>A | CA395408269 | ATXN2L | c.2785G>A (p.Gly929Arg) c.760G>A (p.Gly254Arg) n.3159G>A c.2803G>A (p.Gly935Arg) c.1849G>A (n.1849G>A) c.54G>A c.763G>A (p.Gly255Arg) c.305G>A c.2806G>A (p.Gly936Arg) c.2788G>A (p.Gly930Arg) c.2626G>A (p.Gly876Arg) c.2734G>A (p.Gly912Arg) c.2716G>A (p.Gly906Arg) c.2440G>A (p.Gly814Arg) n.3015G>A c.2608G>A (p.Gly870Arg) c.2422G>A (p.Gly808Arg) n.3018G>A c.2713G>A (p.Gly905Arg) c.2779G>A (p.Gly927Arg) c.2731G>A (p.Gly911Arg) c.2596G>A (p.Gly866Arg) | |
16 | g.28835648G>C | CA395408268 | ATXN2L | c.2785G>C (p.Gly929Arg) c.760G>C (p.Gly254Arg) n.3159G>C c.2803G>C (p.Gly935Arg) c.1849G>C (n.1849G>C) c.54G>C c.763G>C (p.Gly255Arg) c.305G>C c.2806G>C (p.Gly936Arg) c.2788G>C (p.Gly930Arg) c.2626G>C (p.Gly876Arg) c.2734G>C (p.Gly912Arg) c.2716G>C (p.Gly906Arg) c.2440G>C (p.Gly814Arg) n.3015G>C c.2608G>C (p.Gly870Arg) c.2422G>C (p.Gly808Arg) n.3018G>C c.2713G>C (p.Gly905Arg) c.2779G>C (p.Gly927Arg) c.2731G>C (p.Gly911Arg) c.2596G>C (p.Gly866Arg) | |
16 | g.28835648G>T | CA395408267 | ATXN2L | c.2785G>T (p.Gly929Ter) c.760G>T (p.Gly254Ter) n.3159G>T c.2803G>T (p.Gly935Ter) c.1849G>T (n.1849G>T) c.54G>T c.763G>T (p.Gly255Ter) c.305G>T c.2806G>T (p.Gly936Ter) c.2788G>T (p.Gly930Ter) c.2626G>T (p.Gly876Ter) c.2734G>T (p.Gly912Ter) c.2716G>T (p.Gly906Ter) c.2440G>T (p.Gly814Ter) n.3015G>T c.2608G>T (p.Gly870Ter) c.2422G>T (p.Gly808Ter) n.3018G>T c.2713G>T (p.Gly905Ter) c.2779G>T (p.Gly927Ter) c.2731G>T (p.Gly911Ter) c.2596G>T (p.Gly866Ter) | |
16 | g.28835649G>A | CA395408270 | ATXN2L | c.2786G>A (p.Gly929Glu) c.761G>A (p.Gly254Glu) n.3160G>A c.2804G>A (p.Gly935Glu) c.1850G>A (n.1850G>A) c.55G>A c.764G>A (p.Gly255Glu) c.306G>A c.2807G>A (p.Gly936Glu) c.2789G>A (p.Gly930Glu) c.2627G>A (p.Gly876Glu) c.2735G>A (p.Gly912Glu) c.2717G>A (p.Gly906Glu) c.2441G>A (p.Gly814Glu) n.3016G>A c.2609G>A (p.Gly870Glu) c.2423G>A (p.Gly808Glu) n.3019G>A c.2714G>A (p.Gly905Glu) c.2780G>A (p.Gly927Glu) c.2732G>A (p.Gly911Glu) c.2597G>A (p.Gly866Glu) | |
16 | g.28835649G>C | CA395408272 | ATXN2L | c.2786G>C (p.Gly929Ala) c.761G>C (p.Gly254Ala) n.3160G>C c.2804G>C (p.Gly935Ala) c.1850G>C (n.1850G>C) c.55G>C c.764G>C (p.Gly255Ala) c.306G>C c.2807G>C (p.Gly936Ala) c.2789G>C (p.Gly930Ala) c.2627G>C (p.Gly876Ala) c.2735G>C (p.Gly912Ala) c.2717G>C (p.Gly906Ala) c.2441G>C (p.Gly814Ala) n.3016G>C c.2609G>C (p.Gly870Ala) c.2423G>C (p.Gly808Ala) n.3019G>C c.2714G>C (p.Gly905Ala) c.2780G>C (p.Gly927Ala) c.2732G>C (p.Gly911Ala) c.2597G>C (p.Gly866Ala) | |
16 | g.28835649G>T | CA395408271 | ATXN2L | c.2786G>T (p.Gly929Val) c.761G>T (p.Gly254Val) n.3160G>T c.2804G>T (p.Gly935Val) c.1850G>T (n.1850G>T) c.55G>T c.764G>T (p.Gly255Val) c.306G>T c.2807G>T (p.Gly936Val) c.2789G>T (p.Gly930Val) c.2627G>T (p.Gly876Val) c.2735G>T (p.Gly912Val) c.2717G>T (p.Gly906Val) c.2441G>T (p.Gly814Val) n.3016G>T c.2609G>T (p.Gly870Val) c.2423G>T (p.Gly808Val) n.3019G>T c.2714G>T (p.Gly905Val) c.2780G>T (p.Gly927Val) c.2732G>T (p.Gly911Val) c.2597G>T (p.Gly866Val) | |
16 | g.28835650A>C | CA494868822 | ATXN2L | c.2787A>C (p.Gly929=) c.762A>C (p.Gly254=) n.3161A>C c.2805A>C (p.Gly935=) c.1851A>C (n.1851A>C) c.56A>C c.765A>C (p.Gly255=) c.307A>C c.2808A>C (p.Gly936=) c.2790A>C (p.Gly930=) c.2628A>C (p.Gly876=) c.2736A>C (p.Gly912=) c.2718A>C (p.Gly906=) c.2442A>C (p.Gly814=) n.3017A>C c.2610A>C (p.Gly870=) c.2424A>C (p.Gly808=) n.3020A>C c.2715A>C (p.Gly905=) c.2781A>C (p.Gly927=) c.2733A>C (p.Gly911=) c.2598A>C (p.Gly866=) | |
16 | g.28835650A>G | CA494868834 | ATXN2L | c.2787A>G (p.Gly929=) c.762A>G (p.Gly254=) n.3161A>G c.2805A>G (p.Gly935=) c.1851A>G (n.1851A>G) c.56A>G c.765A>G (p.Gly255=) c.307A>G c.2808A>G (p.Gly936=) c.2790A>G (p.Gly930=) c.2628A>G (p.Gly876=) c.2736A>G (p.Gly912=) c.2718A>G (p.Gly906=) c.2442A>G (p.Gly814=) n.3017A>G c.2610A>G (p.Gly870=) c.2424A>G (p.Gly808=) n.3020A>G c.2715A>G (p.Gly905=) c.2781A>G (p.Gly927=) c.2733A>G (p.Gly911=) c.2598A>G (p.Gly866=) | |
16 | g.28835650A>T | CA494868826 | ATXN2L | c.2787A>T (p.Gly929=) c.762A>T (p.Gly254=) n.3161A>T c.2805A>T (p.Gly935=) c.1851A>T (n.1851A>T) c.56A>T c.765A>T (p.Gly255=) c.307A>T c.2808A>T (p.Gly936=) c.2790A>T (p.Gly930=) c.2628A>T (p.Gly876=) c.2736A>T (p.Gly912=) c.2718A>T (p.Gly906=) c.2442A>T (p.Gly814=) n.3017A>T c.2610A>T (p.Gly870=) c.2424A>T (p.Gly808=) n.3020A>T c.2715A>T (p.Gly905=) c.2781A>T (p.Gly927=) c.2733A>T (p.Gly911=) c.2598A>T (p.Gly866=) | |
16 | g.28835651C>A | CA395408273 | ATXN2L | c.2788C>A (p.Pro930Thr) c.763C>A (p.Pro255Thr) n.3162C>A c.2806C>A (p.Pro936Thr) c.1852C>A (n.1852C>A) c.57C>A c.766C>A (p.Pro256Thr) c.308C>A c.2809C>A (p.Pro937Thr) c.2791C>A (p.Pro931Thr) c.2629C>A (p.Pro877Thr) c.2737C>A (p.Pro913Thr) c.2719C>A (p.Pro907Thr) c.2443C>A (p.Pro815Thr) n.3018C>A c.2611C>A (p.Pro871Thr) c.2425C>A (p.Pro809Thr) n.3021C>A c.2716C>A (p.Pro906Thr) c.2782C>A (p.Pro928Thr) c.2734C>A (p.Pro912Thr) c.2599C>A (p.Pro867Thr) | |
16 | g.28835651C= | CA2215806389 | ATXN2L | c.2788C= (p.Pro930=) c.763C= (p.Pro255=) n.3162C= c.2806C= (p.Pro936=) c.1852C= (n.1852C=) c.57C= c.766C= (p.Pro256=) c.308C= c.2809C= (p.Pro937=) c.2791C= (p.Pro931=) c.2629C= (p.Pro877=) c.2737C= (p.Pro913=) c.2719C= (p.Pro907=) c.2443C= (p.Pro815=) n.3018C= c.2611C= (p.Pro871=) c.2425C= (p.Pro809=) n.3021C= c.2716C= (p.Pro906=) c.2782C= (p.Pro928=) c.2734C= (p.Pro912=) c.2599C= (p.Pro867=) | |
16 | g.28835651C>G | CA395408275 | ATXN2L | c.2788C>G (p.Pro930Ala) c.763C>G (p.Pro255Ala) n.3162C>G c.2806C>G (p.Pro936Ala) c.1852C>G (n.1852C>G) c.57C>G c.766C>G (p.Pro256Ala) c.308C>G c.2809C>G (p.Pro937Ala) c.2791C>G (p.Pro931Ala) c.2629C>G (p.Pro877Ala) c.2737C>G (p.Pro913Ala) c.2719C>G (p.Pro907Ala) c.2443C>G (p.Pro815Ala) n.3018C>G c.2611C>G (p.Pro871Ala) c.2425C>G (p.Pro809Ala) n.3021C>G c.2716C>G (p.Pro906Ala) c.2782C>G (p.Pro928Ala) c.2734C>G (p.Pro912Ala) c.2599C>G (p.Pro867Ala) | |
16 | g.28835651C>T | CA395408274 | ATXN2L | c.2788C>T (p.Pro930Ser) c.763C>T (p.Pro255Ser) n.3162C>T c.2806C>T (p.Pro936Ser) c.1852C>T (n.1852C>T) c.57C>T c.766C>T (p.Pro256Ser) c.308C>T c.2809C>T (p.Pro937Ser) c.2791C>T (p.Pro931Ser) c.2629C>T (p.Pro877Ser) c.2737C>T (p.Pro913Ser) c.2719C>T (p.Pro907Ser) c.2443C>T (p.Pro815Ser) n.3018C>T c.2611C>T (p.Pro871Ser) c.2425C>T (p.Pro809Ser) n.3021C>T c.2716C>T (p.Pro906Ser) c.2782C>T (p.Pro928Ser) c.2734C>T (p.Pro912Ser) c.2599C>T (p.Pro867Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835652C>A | CA395408276 | ATXN2L | c.2789C>A (p.Pro930His) c.764C>A (p.Pro255His) n.3163C>A c.2807C>A (p.Pro936His) c.1853C>A (n.1853C>A) c.58C>A c.767C>A (p.Pro256His) c.309C>A c.2810C>A (p.Pro937His) c.2792C>A (p.Pro931His) c.2630C>A (p.Pro877His) c.2738C>A (p.Pro913His) c.2720C>A (p.Pro907His) c.2444C>A (p.Pro815His) n.3019C>A c.2612C>A (p.Pro871His) c.2426C>A (p.Pro809His) n.3022C>A c.2717C>A (p.Pro906His) c.2783C>A (p.Pro928His) c.2735C>A (p.Pro912His) c.2600C>A (p.Pro867His) | |
16 | g.28835652C>G | CA395408277 | ATXN2L | c.2789C>G (p.Pro930Arg) c.764C>G (p.Pro255Arg) n.3163C>G c.2807C>G (p.Pro936Arg) c.1853C>G (n.1853C>G) c.58C>G c.767C>G (p.Pro256Arg) c.309C>G c.2810C>G (p.Pro937Arg) c.2792C>G (p.Pro931Arg) c.2630C>G (p.Pro877Arg) c.2738C>G (p.Pro913Arg) c.2720C>G (p.Pro907Arg) c.2444C>G (p.Pro815Arg) n.3019C>G c.2612C>G (p.Pro871Arg) c.2426C>G (p.Pro809Arg) n.3022C>G c.2717C>G (p.Pro906Arg) c.2783C>G (p.Pro928Arg) c.2735C>G (p.Pro912Arg) c.2600C>G (p.Pro867Arg) | gnomAD v4 |
16 | g.28835652C>T | CA395408278 | ATXN2L | c.2789C>T (p.Pro930Leu) c.764C>T (p.Pro255Leu) n.3163C>T c.2807C>T (p.Pro936Leu) c.1853C>T (n.1853C>T) c.58C>T c.767C>T (p.Pro256Leu) c.309C>T c.2810C>T (p.Pro937Leu) c.2792C>T (p.Pro931Leu) c.2630C>T (p.Pro877Leu) c.2738C>T (p.Pro913Leu) c.2720C>T (p.Pro907Leu) c.2444C>T (p.Pro815Leu) n.3019C>T c.2612C>T (p.Pro871Leu) c.2426C>T (p.Pro809Leu) n.3022C>T c.2717C>T (p.Pro906Leu) c.2783C>T (p.Pro928Leu) c.2735C>T (p.Pro912Leu) c.2600C>T (p.Pro867Leu) | |
16 | g.28835654_28835656del | CA2632528909 | ATXN2L | c.2791_2793del (p.Ser931del) c.766_768del (p.Ser256del) n.3165_3167del c.2809_2811del (p.Ser937del) c.1855_1857del (n.1855_1857del) c.60_62del c.769_771del (p.Ser257del) c.311_313del c.2812_2814del (p.Ser938del) c.2794_2796del (p.Ser932del) c.2632_2634del (p.Ser878del) c.2740_2742del (p.Ser914del) c.2722_2724del (p.Ser908del) c.2446_2448del (p.Ser816del) n.3021_3023del c.2614_2616del (p.Ser872del) c.2428_2430del (p.Ser810del) n.3024_3026del c.2719_2721del (p.Ser907del) c.2785_2787del (p.Ser929del) c.2737_2739del (p.Ser913del) c.2602_2604del (p.Ser868del) | gnomAD v4 |
16 | g.28835653T>A | CA494868866 | ATXN2L | c.2790T>A (p.Pro930=) c.765T>A (p.Pro255=) n.3164T>A c.2808T>A (p.Pro936=) c.1854T>A (n.1854T>A) c.59T>A c.768T>A (p.Pro256=) c.310T>A c.2811T>A (p.Pro937=) c.2793T>A (p.Pro931=) c.2631T>A (p.Pro877=) c.2739T>A (p.Pro913=) c.2721T>A (p.Pro907=) c.2445T>A (p.Pro815=) n.3020T>A c.2613T>A (p.Pro871=) c.2427T>A (p.Pro809=) n.3023T>A c.2718T>A (p.Pro906=) c.2784T>A (p.Pro928=) c.2736T>A (p.Pro912=) c.2601T>A (p.Pro867=) | |
16 | g.28835653T>C | CA494868869 | ATXN2L | c.2790T>C (p.Pro930=) c.765T>C (p.Pro255=) n.3164T>C c.2808T>C (p.Pro936=) c.1854T>C (n.1854T>C) c.59T>C c.768T>C (p.Pro256=) c.310T>C c.2811T>C (p.Pro937=) c.2793T>C (p.Pro931=) c.2631T>C (p.Pro877=) c.2739T>C (p.Pro913=) c.2721T>C (p.Pro907=) c.2445T>C (p.Pro815=) n.3020T>C c.2613T>C (p.Pro871=) c.2427T>C (p.Pro809=) n.3023T>C c.2718T>C (p.Pro906=) c.2784T>C (p.Pro928=) c.2736T>C (p.Pro912=) c.2601T>C (p.Pro867=) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28835653T>G | CA494868874 | ATXN2L | c.2790T>G (p.Pro930=) c.765T>G (p.Pro255=) n.3164T>G c.2808T>G (p.Pro936=) c.1854T>G (n.1854T>G) c.59T>G c.768T>G (p.Pro256=) c.310T>G c.2811T>G (p.Pro937=) c.2793T>G (p.Pro931=) c.2631T>G (p.Pro877=) c.2739T>G (p.Pro913=) c.2721T>G (p.Pro907=) c.2445T>G (p.Pro815=) n.3020T>G c.2613T>G (p.Pro871=) c.2427T>G (p.Pro809=) n.3023T>G c.2718T>G (p.Pro906=) c.2784T>G (p.Pro928=) c.2736T>G (p.Pro912=) c.2601T>G (p.Pro867=) | |
16 | g.28835654T>A | CA395408279 | ATXN2L | c.2791T>A (p.Ser931Thr) c.766T>A (p.Ser256Thr) n.3165T>A c.2809T>A (p.Ser937Thr) c.1855T>A (n.1855T>A) c.60T>A c.769T>A (p.Ser257Thr) c.311T>A c.2812T>A (p.Ser938Thr) c.2794T>A (p.Ser932Thr) c.2632T>A (p.Ser878Thr) c.2740T>A (p.Ser914Thr) c.2722T>A (p.Ser908Thr) c.2446T>A (p.Ser816Thr) n.3021T>A c.2614T>A (p.Ser872Thr) c.2428T>A (p.Ser810Thr) n.3024T>A c.2719T>A (p.Ser907Thr) c.2785T>A (p.Ser929Thr) c.2737T>A (p.Ser913Thr) c.2602T>A (p.Ser868Thr) | |
16 | g.28835654T>C | CA7985094 | ATXN2L | c.2791T>C (p.Ser931Pro) c.766T>C (p.Ser256Pro) n.3165T>C c.2809T>C (p.Ser937Pro) c.1855T>C (n.1855T>C) c.60T>C c.769T>C (p.Ser257Pro) c.311T>C c.2812T>C (p.Ser938Pro) c.2794T>C (p.Ser932Pro) c.2632T>C (p.Ser878Pro) c.2740T>C (p.Ser914Pro) c.2722T>C (p.Ser908Pro) c.2446T>C (p.Ser816Pro) n.3021T>C c.2614T>C (p.Ser872Pro) c.2428T>C (p.Ser810Pro) n.3024T>C c.2719T>C (p.Ser907Pro) c.2785T>C (p.Ser929Pro) c.2737T>C (p.Ser913Pro) c.2602T>C (p.Ser868Pro) | dbSNP ExAC |
16 | g.28835654T>G | CA395408280 | ATXN2L | c.2791T>G (p.Ser931Ala) c.766T>G (p.Ser256Ala) n.3165T>G c.2809T>G (p.Ser937Ala) c.1855T>G (n.1855T>G) c.60T>G c.769T>G (p.Ser257Ala) c.311T>G c.2812T>G (p.Ser938Ala) c.2794T>G (p.Ser932Ala) c.2632T>G (p.Ser878Ala) c.2740T>G (p.Ser914Ala) c.2722T>G (p.Ser908Ala) c.2446T>G (p.Ser816Ala) n.3021T>G c.2614T>G (p.Ser872Ala) c.2428T>G (p.Ser810Ala) n.3024T>G c.2719T>G (p.Ser907Ala) c.2785T>G (p.Ser929Ala) c.2737T>G (p.Ser913Ala) c.2602T>G (p.Ser868Ala) | gnomAD v4 |
16 | g.28835654T= | CA2215806392 | ATXN2L | c.2791T= (p.Ser931=) c.766T= (p.Ser256=) n.3165T= c.2809T= (p.Ser937=) c.1855T= (n.1855T=) c.60T= c.769T= (p.Ser257=) c.311T= c.2812T= (p.Ser938=) c.2794T= (p.Ser932=) c.2632T= (p.Ser878=) c.2740T= (p.Ser914=) c.2722T= (p.Ser908=) c.2446T= (p.Ser816=) n.3021T= c.2614T= (p.Ser872=) c.2428T= (p.Ser810=) n.3024T= c.2719T= (p.Ser907=) c.2785T= (p.Ser929=) c.2737T= (p.Ser913=) c.2602T= (p.Ser868=) | |
16 | g.28835655C>A | CA395408281 | ATXN2L | c.2792C>A (p.Ser931Tyr) c.767C>A (p.Ser256Tyr) n.3166C>A c.2810C>A (p.Ser937Tyr) c.1856C>A (n.1856C>A) c.61C>A c.770C>A (p.Ser257Tyr) c.312C>A c.2813C>A (p.Ser938Tyr) c.2795C>A (p.Ser932Tyr) c.2633C>A (p.Ser878Tyr) c.2741C>A (p.Ser914Tyr) c.2723C>A (p.Ser908Tyr) c.2447C>A (p.Ser816Tyr) n.3022C>A c.2615C>A (p.Ser872Tyr) c.2429C>A (p.Ser810Tyr) n.3025C>A c.2720C>A (p.Ser907Tyr) c.2786C>A (p.Ser929Tyr) c.2738C>A (p.Ser913Tyr) c.2603C>A (p.Ser868Tyr) | |
16 | g.28835655C= | CA2215806395 | ATXN2L | c.2792C= (p.Ser931=) c.767C= (p.Ser256=) n.3166C= c.2810C= (p.Ser937=) c.1856C= (n.1856C=) c.61C= c.770C= (p.Ser257=) c.312C= c.2813C= (p.Ser938=) c.2795C= (p.Ser932=) c.2633C= (p.Ser878=) c.2741C= (p.Ser914=) c.2723C= (p.Ser908=) c.2447C= (p.Ser816=) n.3022C= c.2615C= (p.Ser872=) c.2429C= (p.Ser810=) n.3025C= c.2720C= (p.Ser907=) c.2786C= (p.Ser929=) c.2738C= (p.Ser913=) c.2603C= (p.Ser868=) | |
16 | g.28835655C>G | CA395408282 | ATXN2L | c.2792C>G (p.Ser931Cys) c.767C>G (p.Ser256Cys) n.3166C>G c.2810C>G (p.Ser937Cys) c.1856C>G (n.1856C>G) c.61C>G c.770C>G (p.Ser257Cys) c.312C>G c.2813C>G (p.Ser938Cys) c.2795C>G (p.Ser932Cys) c.2633C>G (p.Ser878Cys) c.2741C>G (p.Ser914Cys) c.2723C>G (p.Ser908Cys) c.2447C>G (p.Ser816Cys) n.3022C>G c.2615C>G (p.Ser872Cys) c.2429C>G (p.Ser810Cys) n.3025C>G c.2720C>G (p.Ser907Cys) c.2786C>G (p.Ser929Cys) c.2738C>G (p.Ser913Cys) c.2603C>G (p.Ser868Cys) | |
16 | g.28835655C>T | CA279230771 | ATXN2L | c.2792C>T (p.Ser931Phe) c.767C>T (p.Ser256Phe) n.3166C>T c.2810C>T (p.Ser937Phe) c.1856C>T (n.1856C>T) c.61C>T c.770C>T (p.Ser257Phe) c.312C>T c.2813C>T (p.Ser938Phe) c.2795C>T (p.Ser932Phe) c.2633C>T (p.Ser878Phe) c.2741C>T (p.Ser914Phe) c.2723C>T (p.Ser908Phe) c.2447C>T (p.Ser816Phe) n.3022C>T c.2615C>T (p.Ser872Phe) c.2429C>T (p.Ser810Phe) n.3025C>T c.2720C>T (p.Ser907Phe) c.2786C>T (p.Ser929Phe) c.2738C>T (p.Ser913Phe) c.2603C>T (p.Ser868Phe) | dbSNP |
16 | g.28835656T>A | CA494868888 | ATXN2L | c.2793T>A (p.Ser931=) c.768T>A (p.Ser256=) n.3167T>A c.2811T>A (p.Ser937=) c.1857T>A (n.1857T>A) c.62T>A c.771T>A (p.Ser257=) c.313T>A c.2814T>A (p.Ser938=) c.2796T>A (p.Ser932=) c.2634T>A (p.Ser878=) c.2742T>A (p.Ser914=) c.2724T>A (p.Ser908=) c.2448T>A (p.Ser816=) n.3023T>A c.2616T>A (p.Ser872=) c.2430T>A (p.Ser810=) n.3026T>A c.2721T>A (p.Ser907=) c.2787T>A (p.Ser929=) c.2739T>A (p.Ser913=) c.2604T>A (p.Ser868=) | |
16 | g.28835656T>C | CA494868890 | ATXN2L | c.2793T>C (p.Ser931=) c.768T>C (p.Ser256=) n.3167T>C c.2811T>C (p.Ser937=) c.1857T>C (n.1857T>C) c.62T>C c.771T>C (p.Ser257=) c.313T>C c.2814T>C (p.Ser938=) c.2796T>C (p.Ser932=) c.2634T>C (p.Ser878=) c.2742T>C (p.Ser914=) c.2724T>C (p.Ser908=) c.2448T>C (p.Ser816=) n.3023T>C c.2616T>C (p.Ser872=) c.2430T>C (p.Ser810=) n.3026T>C c.2721T>C (p.Ser907=) c.2787T>C (p.Ser929=) c.2739T>C (p.Ser913=) c.2604T>C (p.Ser868=) | |
16 | g.28835656T>G | CA494868895 | ATXN2L | c.2793T>G (p.Ser931=) c.768T>G (p.Ser256=) n.3167T>G c.2811T>G (p.Ser937=) c.1857T>G (n.1857T>G) c.62T>G c.771T>G (p.Ser257=) c.313T>G c.2814T>G (p.Ser938=) c.2796T>G (p.Ser932=) c.2634T>G (p.Ser878=) c.2742T>G (p.Ser914=) c.2724T>G (p.Ser908=) c.2448T>G (p.Ser816=) n.3023T>G c.2616T>G (p.Ser872=) c.2430T>G (p.Ser810=) n.3026T>G c.2721T>G (p.Ser907=) c.2787T>G (p.Ser929=) c.2739T>G (p.Ser913=) c.2604T>G (p.Ser868=) |