Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28836086A>C | CA395409272 | ATXN2L | c.3049A>C (p.Thr1017Pro) c.1024A>C (p.Thr342Pro) n.3423A>C c.244A>C (p.Thr82Pro) c.3067A>C (p.Thr1023Pro) c.2113A>C (n.2113A>C) c.318A>C c.1027A>C (p.Thr343Pro) c.3070A>C (p.Thr1024Pro) c.3052A>C (p.Thr1018Pro) c.2890A>C (p.Thr964Pro) c.2998A>C (p.Thr1000Pro) c.2980A>C (p.Thr994Pro) c.2704A>C (p.Thr902Pro) n.3279A>C c.2872A>C (p.Thr958Pro) c.2686A>C (p.Thr896Pro) n.3282A>C c.2977A>C (p.Thr993Pro) c.3043A>C (p.Thr1015Pro) c.2995A>C (p.Thr999Pro) c.2860A>C (p.Thr954Pro) c.2896-37A>C (n.2896-37A>C) | |
16 | g.28836086A>G | CA395409273 | ATXN2L | c.3049A>G (p.Thr1017Ala) c.1024A>G (p.Thr342Ala) n.3423A>G c.244A>G (p.Thr82Ala) c.3067A>G (p.Thr1023Ala) c.2113A>G (n.2113A>G) c.318A>G c.1027A>G (p.Thr343Ala) c.3070A>G (p.Thr1024Ala) c.3052A>G (p.Thr1018Ala) c.2890A>G (p.Thr964Ala) c.2998A>G (p.Thr1000Ala) c.2980A>G (p.Thr994Ala) c.2704A>G (p.Thr902Ala) n.3279A>G c.2872A>G (p.Thr958Ala) c.2686A>G (p.Thr896Ala) n.3282A>G c.2977A>G (p.Thr993Ala) c.3043A>G (p.Thr1015Ala) c.2995A>G (p.Thr999Ala) c.2860A>G (p.Thr954Ala) c.2896-37A>G (n.2896-37A>G) | gnomAD v4 |
16 | g.28836086A>T | CA395409274 | ATXN2L | c.3049A>T (p.Thr1017Ser) c.1024A>T (p.Thr342Ser) n.3423A>T c.244A>T (p.Thr82Ser) c.3067A>T (p.Thr1023Ser) c.2113A>T (n.2113A>T) c.318A>T c.1027A>T (p.Thr343Ser) c.3070A>T (p.Thr1024Ser) c.3052A>T (p.Thr1018Ser) c.2890A>T (p.Thr964Ser) c.2998A>T (p.Thr1000Ser) c.2980A>T (p.Thr994Ser) c.2704A>T (p.Thr902Ser) n.3279A>T c.2872A>T (p.Thr958Ser) c.2686A>T (p.Thr896Ser) n.3282A>T c.2977A>T (p.Thr993Ser) c.3043A>T (p.Thr1015Ser) c.2995A>T (p.Thr999Ser) c.2860A>T (p.Thr954Ser) c.2896-37A>T (n.2896-37A>T) | |
16 | g.28836087C>A | CA395409275 | ATXN2L | c.3050C>A (p.Thr1017Lys) c.1025C>A (p.Thr342Lys) n.3424C>A c.245C>A (p.Thr82Lys) c.3068C>A (p.Thr1023Lys) c.2114C>A (n.2114C>A) c.319C>A c.1028C>A (p.Thr343Lys) c.3071C>A (p.Thr1024Lys) c.3053C>A (p.Thr1018Lys) c.2891C>A (p.Thr964Lys) c.2999C>A (p.Thr1000Lys) c.2981C>A (p.Thr994Lys) c.2705C>A (p.Thr902Lys) n.3280C>A c.2873C>A (p.Thr958Lys) c.2687C>A (p.Thr896Lys) n.3283C>A c.2978C>A (p.Thr993Lys) c.3044C>A (p.Thr1015Lys) c.2996C>A (p.Thr999Lys) c.2861C>A (p.Thr954Lys) c.2896-36C>A (n.2896-36C>A) | |
16 | g.28836087C>G | CA395409277 | ATXN2L | c.3050C>G (p.Thr1017Arg) c.1025C>G (p.Thr342Arg) n.3424C>G c.245C>G (p.Thr82Arg) c.3068C>G (p.Thr1023Arg) c.2114C>G (n.2114C>G) c.319C>G c.1028C>G (p.Thr343Arg) c.3071C>G (p.Thr1024Arg) c.3053C>G (p.Thr1018Arg) c.2891C>G (p.Thr964Arg) c.2999C>G (p.Thr1000Arg) c.2981C>G (p.Thr994Arg) c.2705C>G (p.Thr902Arg) n.3280C>G c.2873C>G (p.Thr958Arg) c.2687C>G (p.Thr896Arg) n.3283C>G c.2978C>G (p.Thr993Arg) c.3044C>G (p.Thr1015Arg) c.2996C>G (p.Thr999Arg) c.2861C>G (p.Thr954Arg) c.2896-36C>G (n.2896-36C>G) | |
16 | g.28836087C>T | CA395409276 | ATXN2L | c.3050C>T (p.Thr1017Ile) c.1025C>T (p.Thr342Ile) n.3424C>T c.245C>T (p.Thr82Ile) c.3068C>T (p.Thr1023Ile) c.2114C>T (n.2114C>T) c.319C>T c.1028C>T (p.Thr343Ile) c.3071C>T (p.Thr1024Ile) c.3053C>T (p.Thr1018Ile) c.2891C>T (p.Thr964Ile) c.2999C>T (p.Thr1000Ile) c.2981C>T (p.Thr994Ile) c.2705C>T (p.Thr902Ile) n.3280C>T c.2873C>T (p.Thr958Ile) c.2687C>T (p.Thr896Ile) n.3283C>T c.2978C>T (p.Thr993Ile) c.3044C>T (p.Thr1015Ile) c.2996C>T (p.Thr999Ile) c.2861C>T (p.Thr954Ile) c.2896-36C>T (n.2896-36C>T) | |
16 | g.28836088A>C | CA494869437 | ATXN2L | c.3051A>C (p.Thr1017=) c.1026A>C (p.Thr342=) n.3425A>C c.246A>C (p.Thr82=) c.3069A>C (p.Thr1023=) c.2115A>C (n.2115A>C) c.320A>C c.1029A>C (p.Thr343=) c.3072A>C (p.Thr1024=) c.3054A>C (p.Thr1018=) c.2892A>C (p.Thr964=) c.3000A>C (p.Thr1000=) c.2982A>C (p.Thr994=) c.2706A>C (p.Thr902=) n.3281A>C c.2874A>C (p.Thr958=) c.2688A>C (p.Thr896=) n.3284A>C c.2979A>C (p.Thr993=) c.3045A>C (p.Thr1015=) c.2997A>C (p.Thr999=) c.2862A>C (p.Thr954=) c.2896-35A>C (n.2896-35A>C) | |
16 | g.28836088A>G | CA494869441 | ATXN2L | c.3051A>G (p.Thr1017=) c.1026A>G (p.Thr342=) n.3425A>G c.246A>G (p.Thr82=) c.3069A>G (p.Thr1023=) c.2115A>G (n.2115A>G) c.320A>G c.1029A>G (p.Thr343=) c.3072A>G (p.Thr1024=) c.3054A>G (p.Thr1018=) c.2892A>G (p.Thr964=) c.3000A>G (p.Thr1000=) c.2982A>G (p.Thr994=) c.2706A>G (p.Thr902=) n.3281A>G c.2874A>G (p.Thr958=) c.2688A>G (p.Thr896=) n.3284A>G c.2979A>G (p.Thr993=) c.3045A>G (p.Thr1015=) c.2997A>G (p.Thr999=) c.2862A>G (p.Thr954=) c.2896-35A>G (n.2896-35A>G) | |
16 | g.28836088A>T | CA494869439 | ATXN2L | c.3051A>T (p.Thr1017=) c.1026A>T (p.Thr342=) n.3425A>T c.246A>T (p.Thr82=) c.3069A>T (p.Thr1023=) c.2115A>T (n.2115A>T) c.320A>T c.1029A>T (p.Thr343=) c.3072A>T (p.Thr1024=) c.3054A>T (p.Thr1018=) c.2892A>T (p.Thr964=) c.3000A>T (p.Thr1000=) c.2982A>T (p.Thr994=) c.2706A>T (p.Thr902=) n.3281A>T c.2874A>T (p.Thr958=) c.2688A>T (p.Thr896=) n.3284A>T c.2979A>T (p.Thr993=) c.3045A>T (p.Thr1015=) c.2997A>T (p.Thr999=) c.2862A>T (p.Thr954=) c.2896-35A>T (n.2896-35A>T) | |
16 | g.28836089C>A | CA395409278 | ATXN2L | c.3052C>A (p.Pro1018Thr) c.1027C>A (p.Pro343Thr) n.3426C>A c.247C>A (p.Pro83Thr) c.3070C>A (p.Pro1024Thr) c.2116C>A (n.2116C>A) c.321C>A c.1030C>A (p.Pro344Thr) c.3073C>A (p.Pro1025Thr) c.3055C>A (p.Pro1019Thr) c.2893C>A (p.Pro965Thr) c.3001C>A (p.Pro1001Thr) c.2983C>A (p.Pro995Thr) c.2707C>A (p.Pro903Thr) n.3282C>A c.2875C>A (p.Pro959Thr) c.2689C>A (p.Pro897Thr) n.3285C>A c.2980C>A (p.Pro994Thr) c.3046C>A (p.Pro1016Thr) c.2998C>A (p.Pro1000Thr) c.2863C>A (p.Pro955Thr) c.2896-34C>A (n.2896-34C>A) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28836089C= | CA2215806919 | ATXN2L | c.3052C= (p.Pro1018=) c.1027C= (p.Pro343=) n.3426C= c.247C= (p.Pro83=) c.3070C= (p.Pro1024=) c.2116C= (n.2116C=) c.321C= c.1030C= (p.Pro344=) c.3073C= (p.Pro1025=) c.3055C= (p.Pro1019=) c.2893C= (p.Pro965=) c.3001C= (p.Pro1001=) c.2983C= (p.Pro995=) c.2707C= (p.Pro903=) n.3282C= c.2875C= (p.Pro959=) c.2689C= (p.Pro897=) n.3285C= c.2980C= (p.Pro994=) c.3046C= (p.Pro1016=) c.2998C= (p.Pro1000=) c.2863C= (p.Pro955=) c.2896-34C= (n.2896-34C=) | |
16 | g.28836089C>G | CA395409279 | ATXN2L | c.3052C>G (p.Pro1018Ala) c.1027C>G (p.Pro343Ala) n.3426C>G c.247C>G (p.Pro83Ala) c.3070C>G (p.Pro1024Ala) c.2116C>G (n.2116C>G) c.321C>G c.1030C>G (p.Pro344Ala) c.3073C>G (p.Pro1025Ala) c.3055C>G (p.Pro1019Ala) c.2893C>G (p.Pro965Ala) c.3001C>G (p.Pro1001Ala) c.2983C>G (p.Pro995Ala) c.2707C>G (p.Pro903Ala) n.3282C>G c.2875C>G (p.Pro959Ala) c.2689C>G (p.Pro897Ala) n.3285C>G c.2980C>G (p.Pro994Ala) c.3046C>G (p.Pro1016Ala) c.2998C>G (p.Pro1000Ala) c.2863C>G (p.Pro955Ala) c.2896-34C>G (n.2896-34C>G) | |
16 | g.28836089C>T | CA395409280 | ATXN2L | c.3052C>T (p.Pro1018Ser) c.1027C>T (p.Pro343Ser) n.3426C>T c.247C>T (p.Pro83Ser) c.3070C>T (p.Pro1024Ser) c.2116C>T (n.2116C>T) c.321C>T c.1030C>T (p.Pro344Ser) c.3073C>T (p.Pro1025Ser) c.3055C>T (p.Pro1019Ser) c.2893C>T (p.Pro965Ser) c.3001C>T (p.Pro1001Ser) c.2983C>T (p.Pro995Ser) c.2707C>T (p.Pro903Ser) n.3282C>T c.2875C>T (p.Pro959Ser) c.2689C>T (p.Pro897Ser) n.3285C>T c.2980C>T (p.Pro994Ser) c.3046C>T (p.Pro1016Ser) c.2998C>T (p.Pro1000Ser) c.2863C>T (p.Pro955Ser) c.2896-34C>T (n.2896-34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836090C>A | CA395409281 | ATXN2L | c.3053C>A (p.Pro1018His) c.1028C>A (p.Pro343His) n.3427C>A c.248C>A (p.Pro83His) c.3071C>A (p.Pro1024His) c.2117C>A (n.2117C>A) c.322C>A c.1031C>A (p.Pro344His) c.3074C>A (p.Pro1025His) c.3056C>A (p.Pro1019His) c.2894C>A (p.Pro965His) c.3002C>A (p.Pro1001His) c.2984C>A (p.Pro995His) c.2708C>A (p.Pro903His) n.3283C>A c.2876C>A (p.Pro959His) c.2690C>A (p.Pro897His) n.3286C>A c.2981C>A (p.Pro994His) c.3047C>A (p.Pro1016His) c.2999C>A (p.Pro1000His) c.2864C>A (p.Pro955His) c.2896-33C>A (n.2896-33C>A) | |
16 | g.28836090C>G | CA395409282 | ATXN2L | c.3053C>G (p.Pro1018Arg) c.1028C>G (p.Pro343Arg) n.3427C>G c.248C>G (p.Pro83Arg) c.3071C>G (p.Pro1024Arg) c.2117C>G (n.2117C>G) c.322C>G c.1031C>G (p.Pro344Arg) c.3074C>G (p.Pro1025Arg) c.3056C>G (p.Pro1019Arg) c.2894C>G (p.Pro965Arg) c.3002C>G (p.Pro1001Arg) c.2984C>G (p.Pro995Arg) c.2708C>G (p.Pro903Arg) n.3283C>G c.2876C>G (p.Pro959Arg) c.2690C>G (p.Pro897Arg) n.3286C>G c.2981C>G (p.Pro994Arg) c.3047C>G (p.Pro1016Arg) c.2999C>G (p.Pro1000Arg) c.2864C>G (p.Pro955Arg) c.2896-33C>G (n.2896-33C>G) | |
16 | g.28836090C>T | CA395409283 | ATXN2L | c.3053C>T (p.Pro1018Leu) c.1028C>T (p.Pro343Leu) n.3427C>T c.248C>T (p.Pro83Leu) c.3071C>T (p.Pro1024Leu) c.2117C>T (n.2117C>T) c.322C>T c.1031C>T (p.Pro344Leu) c.3074C>T (p.Pro1025Leu) c.3056C>T (p.Pro1019Leu) c.2894C>T (p.Pro965Leu) c.3002C>T (p.Pro1001Leu) c.2984C>T (p.Pro995Leu) c.2708C>T (p.Pro903Leu) n.3283C>T c.2876C>T (p.Pro959Leu) c.2690C>T (p.Pro897Leu) n.3286C>T c.2981C>T (p.Pro994Leu) c.3047C>T (p.Pro1016Leu) c.2999C>T (p.Pro1000Leu) c.2864C>T (p.Pro955Leu) c.2896-33C>T (n.2896-33C>T) | |
16 | g.28836091C>A | CA494869452 | ATXN2L | c.3054C>A (p.Pro1018=) c.1029C>A (p.Pro343=) n.3428C>A c.249C>A (p.Pro83=) c.3072C>A (p.Pro1024=) c.2118C>A (n.2118C>A) c.323C>A c.1032C>A (p.Pro344=) c.3075C>A (p.Pro1025=) c.3057C>A (p.Pro1019=) c.2895C>A (p.Pro965=) c.3003C>A (p.Pro1001=) c.2985C>A (p.Pro995=) c.2709C>A (p.Pro903=) n.3284C>A c.2877C>A (p.Pro959=) c.2691C>A (p.Pro897=) n.3287C>A c.2982C>A (p.Pro994=) c.3048C>A (p.Pro1016=) c.3000C>A (p.Pro1000=) c.2865C>A (p.Pro955=) c.2896-32C>A (n.2896-32C>A) | |
16 | g.28836091C>G | CA494869454 | ATXN2L | c.3054C>G (p.Pro1018=) c.1029C>G (p.Pro343=) n.3428C>G c.249C>G (p.Pro83=) c.3072C>G (p.Pro1024=) c.2118C>G (n.2118C>G) c.323C>G c.1032C>G (p.Pro344=) c.3075C>G (p.Pro1025=) c.3057C>G (p.Pro1019=) c.2895C>G (p.Pro965=) c.3003C>G (p.Pro1001=) c.2985C>G (p.Pro995=) c.2709C>G (p.Pro903=) n.3284C>G c.2877C>G (p.Pro959=) c.2691C>G (p.Pro897=) n.3287C>G c.2982C>G (p.Pro994=) c.3048C>G (p.Pro1016=) c.3000C>G (p.Pro1000=) c.2865C>G (p.Pro955=) c.2896-32C>G (n.2896-32C>G) | gnomAD v4 |
16 | g.28836091C>T | CA494869459 | ATXN2L | c.3054C>T (p.Pro1018=) c.1029C>T (p.Pro343=) n.3428C>T c.249C>T (p.Pro83=) c.3072C>T (p.Pro1024=) c.2118C>T (n.2118C>T) c.323C>T c.1032C>T (p.Pro344=) c.3075C>T (p.Pro1025=) c.3057C>T (p.Pro1019=) c.2895C>T (p.Pro965=) c.3003C>T (p.Pro1001=) c.2985C>T (p.Pro995=) c.2709C>T (p.Pro903=) n.3284C>T c.2877C>T (p.Pro959=) c.2691C>T (p.Pro897=) n.3287C>T c.2982C>T (p.Pro994=) c.3048C>T (p.Pro1016=) c.3000C>T (p.Pro1000=) c.2865C>T (p.Pro955=) c.2896-32C>T (n.2896-32C>T) | |
16 | g.28836092T>A | CA395409844 | ATXN2L | c.3055T>A (p.Ser1019Thr) c.1030T>A (p.Ser344Thr) n.3429T>A c.250T>A (p.Ser84Thr) c.3073T>A (p.Ser1025Thr) c.2119T>A (n.2119T>A) c.324T>A c.1033T>A (p.Ser345Thr) c.3076T>A (p.Ser1026Thr) c.3058T>A (p.Ser1020Thr) c.2896T>A (p.Ser966Thr) c.3004T>A (p.Ser1002Thr) c.2986T>A (p.Ser996Thr) c.2710T>A (p.Ser904Thr) n.3285T>A c.2878T>A (p.Ser960Thr) c.2692T>A (p.Ser898Thr) n.3288T>A c.2983T>A (p.Ser995Thr) c.3049T>A (p.Ser1017Thr) c.3001T>A (p.Ser1001Thr) c.2866T>A (p.Ser956Thr) c.2896-31T>A (n.2896-31T>A) | |
16 | g.28836092T>C | CA395409845 | ATXN2L | c.3055T>C (p.Ser1019Pro) c.1030T>C (p.Ser344Pro) n.3429T>C c.250T>C (p.Ser84Pro) c.3073T>C (p.Ser1025Pro) c.2119T>C (n.2119T>C) c.324T>C c.1033T>C (p.Ser345Pro) c.3076T>C (p.Ser1026Pro) c.3058T>C (p.Ser1020Pro) c.2896T>C (p.Ser966Pro) c.3004T>C (p.Ser1002Pro) c.2986T>C (p.Ser996Pro) c.2710T>C (p.Ser904Pro) n.3285T>C c.2878T>C (p.Ser960Pro) c.2692T>C (p.Ser898Pro) n.3288T>C c.2983T>C (p.Ser995Pro) c.3049T>C (p.Ser1017Pro) c.3001T>C (p.Ser1001Pro) c.2866T>C (p.Ser956Pro) c.2896-31T>C (n.2896-31T>C) | |
16 | g.28836092T>G | CA395409847 | ATXN2L | c.3055T>G (p.Ser1019Ala) c.1030T>G (p.Ser344Ala) n.3429T>G c.250T>G (p.Ser84Ala) c.3073T>G (p.Ser1025Ala) c.2119T>G (n.2119T>G) c.324T>G c.1033T>G (p.Ser345Ala) c.3076T>G (p.Ser1026Ala) c.3058T>G (p.Ser1020Ala) c.2896T>G (p.Ser966Ala) c.3004T>G (p.Ser1002Ala) c.2986T>G (p.Ser996Ala) c.2710T>G (p.Ser904Ala) n.3285T>G c.2878T>G (p.Ser960Ala) c.2692T>G (p.Ser898Ala) n.3288T>G c.2983T>G (p.Ser995Ala) c.3049T>G (p.Ser1017Ala) c.3001T>G (p.Ser1001Ala) c.2866T>G (p.Ser956Ala) c.2896-31T>G (n.2896-31T>G) | |
16 | g.28836093C>A | CA395409850 | ATXN2L | c.3056C>A (p.Ser1019Ter) c.1031C>A (p.Ser344Ter) n.3430C>A c.251C>A (p.Ser84Ter) c.3074C>A (p.Ser1025Ter) c.2120C>A (n.2120C>A) c.325C>A c.1034C>A (p.Ser345Ter) c.3077C>A (p.Ser1026Ter) c.3059C>A (p.Ser1020Ter) c.2897C>A (p.Ser966Ter) c.3005C>A (p.Ser1002Ter) c.2987C>A (p.Ser996Ter) c.2711C>A (p.Ser904Ter) n.3286C>A c.2879C>A (p.Ser960Ter) c.2693C>A (p.Ser898Ter) n.3289C>A c.2984C>A (p.Ser995Ter) c.3050C>A (p.Ser1017Ter) c.3002C>A (p.Ser1001Ter) c.2867C>A (p.Ser956Ter) c.2896-30C>A (n.2896-30C>A) | |
16 | g.28836093C>G | CA395409852 | ATXN2L | c.3056C>G (p.Ser1019Ter) c.1031C>G (p.Ser344Ter) n.3430C>G c.251C>G (p.Ser84Ter) c.3074C>G (p.Ser1025Ter) c.2120C>G (n.2120C>G) c.325C>G c.1034C>G (p.Ser345Ter) c.3077C>G (p.Ser1026Ter) c.3059C>G (p.Ser1020Ter) c.2897C>G (p.Ser966Ter) c.3005C>G (p.Ser1002Ter) c.2987C>G (p.Ser996Ter) c.2711C>G (p.Ser904Ter) n.3286C>G c.2879C>G (p.Ser960Ter) c.2693C>G (p.Ser898Ter) n.3289C>G c.2984C>G (p.Ser995Ter) c.3050C>G (p.Ser1017Ter) c.3002C>G (p.Ser1001Ter) c.2867C>G (p.Ser956Ter) c.2896-30C>G (n.2896-30C>G) | |
16 | g.28836093C>T | CA395409854 | ATXN2L | c.3056C>T (p.Ser1019Leu) c.1031C>T (p.Ser344Leu) n.3430C>T c.251C>T (p.Ser84Leu) c.3074C>T (p.Ser1025Leu) c.2120C>T (n.2120C>T) c.325C>T c.1034C>T (p.Ser345Leu) c.3077C>T (p.Ser1026Leu) c.3059C>T (p.Ser1020Leu) c.2897C>T (p.Ser966Leu) c.3005C>T (p.Ser1002Leu) c.2987C>T (p.Ser996Leu) c.2711C>T (p.Ser904Leu) n.3286C>T c.2879C>T (p.Ser960Leu) c.2693C>T (p.Ser898Leu) n.3289C>T c.2984C>T (p.Ser995Leu) c.3050C>T (p.Ser1017Leu) c.3002C>T (p.Ser1001Leu) c.2867C>T (p.Ser956Leu) c.2896-30C>T (n.2896-30C>T) | gnomAD v4 COSMIC COSMIC |
16 | g.28836094A>C | CA494868418 | ATXN2L | c.3057A>C (p.Ser1019=) c.1032A>C (p.Ser344=) n.3431A>C c.252A>C (p.Ser84=) c.3075A>C (p.Ser1025=) c.2121A>C (n.2121A>C) c.326A>C c.1035A>C (p.Ser345=) c.3078A>C (p.Ser1026=) c.3060A>C (p.Ser1020=) c.2898A>C (p.Ser966=) c.3006A>C (p.Ser1002=) c.2988A>C (p.Ser996=) c.2712A>C (p.Ser904=) n.3287A>C c.2880A>C (p.Ser960=) c.2694A>C (p.Ser898=) n.3290A>C c.2985A>C (p.Ser995=) c.3051A>C (p.Ser1017=) c.3003A>C (p.Ser1001=) c.2868A>C (p.Ser956=) c.2896-29A>C (n.2896-29A>C) | |
16 | g.28836094A>G | CA494868423 | ATXN2L | c.3057A>G (p.Ser1019=) c.1032A>G (p.Ser344=) n.3431A>G c.252A>G (p.Ser84=) c.3075A>G (p.Ser1025=) c.2121A>G (n.2121A>G) c.326A>G c.1035A>G (p.Ser345=) c.3078A>G (p.Ser1026=) c.3060A>G (p.Ser1020=) c.2898A>G (p.Ser966=) c.3006A>G (p.Ser1002=) c.2988A>G (p.Ser996=) c.2712A>G (p.Ser904=) n.3287A>G c.2880A>G (p.Ser960=) c.2694A>G (p.Ser898=) n.3290A>G c.2985A>G (p.Ser995=) c.3051A>G (p.Ser1017=) c.3003A>G (p.Ser1001=) c.2868A>G (p.Ser956=) c.2896-29A>G (n.2896-29A>G) | |
16 | g.28836094A>T | CA494868426 | ATXN2L | c.3057A>T (p.Ser1019=) c.1032A>T (p.Ser344=) n.3431A>T c.252A>T (p.Ser84=) c.3075A>T (p.Ser1025=) c.2121A>T (n.2121A>T) c.326A>T c.1035A>T (p.Ser345=) c.3078A>T (p.Ser1026=) c.3060A>T (p.Ser1020=) c.2898A>T (p.Ser966=) c.3006A>T (p.Ser1002=) c.2988A>T (p.Ser996=) c.2712A>T (p.Ser904=) n.3287A>T c.2880A>T (p.Ser960=) c.2694A>T (p.Ser898=) n.3290A>T c.2985A>T (p.Ser995=) c.3051A>T (p.Ser1017=) c.3003A>T (p.Ser1001=) c.2868A>T (p.Ser956=) c.2896-29A>T (n.2896-29A>T) | |
16 | g.28836095C>A | CA7985168 | ATXN2L | c.3058C>A (p.Pro1020Thr) c.1033C>A (p.Pro345Thr) n.3432C>A c.253C>A (p.Pro85Thr) c.3076C>A (p.Pro1026Thr) c.2122C>A (n.2122C>A) c.327C>A c.1036C>A (p.Pro346Thr) c.3079C>A (p.Pro1027Thr) c.3061C>A (p.Pro1021Thr) c.2899C>A (p.Pro967Thr) c.3007C>A (p.Pro1003Thr) c.2989C>A (p.Pro997Thr) c.2713C>A (p.Pro905Thr) n.3288C>A c.2881C>A (p.Pro961Thr) c.2695C>A (p.Pro899Thr) n.3291C>A c.2986C>A (p.Pro996Thr) c.3052C>A (p.Pro1018Thr) c.3004C>A (p.Pro1002Thr) c.2869C>A (p.Pro957Thr) c.2896-28C>A (n.2896-28C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836095C= | CA2215806921 | ATXN2L | c.3058C= (p.Pro1020=) c.1033C= (p.Pro345=) n.3432C= c.253C= (p.Pro85=) c.3076C= (p.Pro1026=) c.2122C= (n.2122C=) c.327C= c.1036C= (p.Pro346=) c.3079C= (p.Pro1027=) c.3061C= (p.Pro1021=) c.2899C= (p.Pro967=) c.3007C= (p.Pro1003=) c.2989C= (p.Pro997=) c.2713C= (p.Pro905=) n.3288C= c.2881C= (p.Pro961=) c.2695C= (p.Pro899=) n.3291C= c.2986C= (p.Pro996=) c.3052C= (p.Pro1018=) c.3004C= (p.Pro1002=) c.2869C= (p.Pro957=) c.2896-28C= (n.2896-28C=) | |
16 | g.28836095C>G | CA395409860 | ATXN2L | c.3058C>G (p.Pro1020Ala) c.1033C>G (p.Pro345Ala) n.3432C>G c.253C>G (p.Pro85Ala) c.3076C>G (p.Pro1026Ala) c.2122C>G (n.2122C>G) c.327C>G c.1036C>G (p.Pro346Ala) c.3079C>G (p.Pro1027Ala) c.3061C>G (p.Pro1021Ala) c.2899C>G (p.Pro967Ala) c.3007C>G (p.Pro1003Ala) c.2989C>G (p.Pro997Ala) c.2713C>G (p.Pro905Ala) n.3288C>G c.2881C>G (p.Pro961Ala) c.2695C>G (p.Pro899Ala) n.3291C>G c.2986C>G (p.Pro996Ala) c.3052C>G (p.Pro1018Ala) c.3004C>G (p.Pro1002Ala) c.2869C>G (p.Pro957Ala) c.2896-28C>G (n.2896-28C>G) | |
16 | g.28836095C>T | CA395409857 | ATXN2L | c.3058C>T (p.Pro1020Ser) c.1033C>T (p.Pro345Ser) n.3432C>T c.253C>T (p.Pro85Ser) c.3076C>T (p.Pro1026Ser) c.2122C>T (n.2122C>T) c.327C>T c.1036C>T (p.Pro346Ser) c.3079C>T (p.Pro1027Ser) c.3061C>T (p.Pro1021Ser) c.2899C>T (p.Pro967Ser) c.3007C>T (p.Pro1003Ser) c.2989C>T (p.Pro997Ser) c.2713C>T (p.Pro905Ser) n.3288C>T c.2881C>T (p.Pro961Ser) c.2695C>T (p.Pro899Ser) n.3291C>T c.2986C>T (p.Pro996Ser) c.3052C>T (p.Pro1018Ser) c.3004C>T (p.Pro1002Ser) c.2869C>T (p.Pro957Ser) c.2896-28C>T (n.2896-28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28836096C>A | CA395409862 | ATXN2L | c.3059C>A (p.Pro1020His) c.1034C>A (p.Pro345His) n.3433C>A c.254C>A (p.Pro85His) c.3077C>A (p.Pro1026His) c.2123C>A (n.2123C>A) c.328C>A c.1037C>A (p.Pro346His) c.3080C>A (p.Pro1027His) c.3062C>A (p.Pro1021His) c.2900C>A (p.Pro967His) c.3008C>A (p.Pro1003His) c.2990C>A (p.Pro997His) c.2714C>A (p.Pro905His) n.3289C>A c.2882C>A (p.Pro961His) c.2696C>A (p.Pro899His) n.3292C>A c.2987C>A (p.Pro996His) c.3053C>A (p.Pro1018His) c.3005C>A (p.Pro1002His) c.2870C>A (p.Pro957His) c.2896-27C>A (n.2896-27C>A) | gnomAD v4 |
16 | g.28836096C= | CA2215806924 | ATXN2L | c.3059C= (p.Pro1020=) c.1034C= (p.Pro345=) n.3433C= c.254C= (p.Pro85=) c.3077C= (p.Pro1026=) c.2123C= (n.2123C=) c.328C= c.1037C= (p.Pro346=) c.3080C= (p.Pro1027=) c.3062C= (p.Pro1021=) c.2900C= (p.Pro967=) c.3008C= (p.Pro1003=) c.2990C= (p.Pro997=) c.2714C= (p.Pro905=) n.3289C= c.2882C= (p.Pro961=) c.2696C= (p.Pro899=) n.3292C= c.2987C= (p.Pro996=) c.3053C= (p.Pro1018=) c.3005C= (p.Pro1002=) c.2870C= (p.Pro957=) c.2896-27C= (n.2896-27C=) | |
16 | g.28836096C>G | CA395409864 | ATXN2L | c.3059C>G (p.Pro1020Arg) c.1034C>G (p.Pro345Arg) n.3433C>G c.254C>G (p.Pro85Arg) c.3077C>G (p.Pro1026Arg) c.2123C>G (n.2123C>G) c.328C>G c.1037C>G (p.Pro346Arg) c.3080C>G (p.Pro1027Arg) c.3062C>G (p.Pro1021Arg) c.2900C>G (p.Pro967Arg) c.3008C>G (p.Pro1003Arg) c.2990C>G (p.Pro997Arg) c.2714C>G (p.Pro905Arg) n.3289C>G c.2882C>G (p.Pro961Arg) c.2696C>G (p.Pro899Arg) n.3292C>G c.2987C>G (p.Pro996Arg) c.3053C>G (p.Pro1018Arg) c.3005C>G (p.Pro1002Arg) c.2870C>G (p.Pro957Arg) c.2896-27C>G (n.2896-27C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836096C>T | CA395409865 | ATXN2L | c.3059C>T (p.Pro1020Leu) c.1034C>T (p.Pro345Leu) n.3433C>T c.254C>T (p.Pro85Leu) c.3077C>T (p.Pro1026Leu) c.2123C>T (n.2123C>T) c.328C>T c.1037C>T (p.Pro346Leu) c.3080C>T (p.Pro1027Leu) c.3062C>T (p.Pro1021Leu) c.2900C>T (p.Pro967Leu) c.3008C>T (p.Pro1003Leu) c.2990C>T (p.Pro997Leu) c.2714C>T (p.Pro905Leu) n.3289C>T c.2882C>T (p.Pro961Leu) c.2696C>T (p.Pro899Leu) n.3292C>T c.2987C>T (p.Pro996Leu) c.3053C>T (p.Pro1018Leu) c.3005C>T (p.Pro1002Leu) c.2870C>T (p.Pro957Leu) c.2896-27C>T (n.2896-27C>T) | dbSNP gnomAD v2 |
16 | g.28836097C>A | CA494868442 | ATXN2L | c.3060C>A (p.Pro1020=) c.1035C>A (p.Pro345=) n.3434C>A c.255C>A (p.Pro85=) c.3078C>A (p.Pro1026=) c.2124C>A (n.2124C>A) c.329C>A c.1038C>A (p.Pro346=) c.3081C>A (p.Pro1027=) c.3063C>A (p.Pro1021=) c.2901C>A (p.Pro967=) c.3009C>A (p.Pro1003=) c.2991C>A (p.Pro997=) c.2715C>A (p.Pro905=) n.3290C>A c.2883C>A (p.Pro961=) c.2697C>A (p.Pro899=) n.3293C>A c.2988C>A (p.Pro996=) c.3054C>A (p.Pro1018=) c.3006C>A (p.Pro1002=) c.2871C>A (p.Pro957=) c.2896-26C>A (n.2896-26C>A) | |
16 | g.28836097C= | CA2215806926 | ATXN2L | c.3060C= (p.Pro1020=) c.1035C= (p.Pro345=) n.3434C= c.255C= (p.Pro85=) c.3078C= (p.Pro1026=) c.2124C= (n.2124C=) c.329C= c.1038C= (p.Pro346=) c.3081C= (p.Pro1027=) c.3063C= (p.Pro1021=) c.2901C= (p.Pro967=) c.3009C= (p.Pro1003=) c.2991C= (p.Pro997=) c.2715C= (p.Pro905=) n.3290C= c.2883C= (p.Pro961=) c.2697C= (p.Pro899=) n.3293C= c.2988C= (p.Pro996=) c.3054C= (p.Pro1018=) c.3006C= (p.Pro1002=) c.2871C= (p.Pro957=) c.2896-26C= (n.2896-26C=) | |
16 | g.28836097C>G | CA494868444 | ATXN2L | c.3060C>G (p.Pro1020=) c.1035C>G (p.Pro345=) n.3434C>G c.255C>G (p.Pro85=) c.3078C>G (p.Pro1026=) c.2124C>G (n.2124C>G) c.329C>G c.1038C>G (p.Pro346=) c.3081C>G (p.Pro1027=) c.3063C>G (p.Pro1021=) c.2901C>G (p.Pro967=) c.3009C>G (p.Pro1003=) c.2991C>G (p.Pro997=) c.2715C>G (p.Pro905=) n.3290C>G c.2883C>G (p.Pro961=) c.2697C>G (p.Pro899=) n.3293C>G c.2988C>G (p.Pro996=) c.3054C>G (p.Pro1018=) c.3006C>G (p.Pro1002=) c.2871C>G (p.Pro957=) c.2896-26C>G (n.2896-26C>G) | |
16 | g.28836097C>T | CA494868446 | ATXN2L | c.3060C>T (p.Pro1020=) c.1035C>T (p.Pro345=) n.3434C>T c.255C>T (p.Pro85=) c.3078C>T (p.Pro1026=) c.2124C>T (n.2124C>T) c.329C>T c.1038C>T (p.Pro346=) c.3081C>T (p.Pro1027=) c.3063C>T (p.Pro1021=) c.2901C>T (p.Pro967=) c.3009C>T (p.Pro1003=) c.2991C>T (p.Pro997=) c.2715C>T (p.Pro905=) n.3290C>T c.2883C>T (p.Pro961=) c.2697C>T (p.Pro899=) n.3293C>T c.2988C>T (p.Pro996=) c.3054C>T (p.Pro1018=) c.3006C>T (p.Pro1002=) c.2871C>T (p.Pro957=) c.2896-26C>T (n.2896-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836098T>A | CA395409867 | ATXN2L | c.3061T>A (p.Tyr1021Asn) c.1036T>A (p.Tyr346Asn) n.3435T>A c.256T>A (p.Tyr86Asn) c.3079T>A (p.Tyr1027Asn) c.2125T>A (n.2125T>A) c.330T>A c.1039T>A (p.Tyr347Asn) c.3082T>A (p.Tyr1028Asn) c.3064T>A (p.Tyr1022Asn) c.2902T>A (p.Tyr968Asn) c.3010T>A (p.Tyr1004Asn) c.2992T>A (p.Tyr998Asn) c.2716T>A (p.Tyr906Asn) n.3291T>A c.2884T>A (p.Tyr962Asn) c.2698T>A (p.Tyr900Asn) n.3294T>A c.2989T>A (p.Tyr997Asn) c.3055T>A (p.Tyr1019Asn) c.3007T>A (p.Tyr1003Asn) c.2872T>A (p.Tyr958Asn) c.2896-25T>A (n.2896-25T>A) | |
16 | g.28836098T>C | CA395409869 | ATXN2L | c.3061T>C (p.Tyr1021His) c.1036T>C (p.Tyr346His) n.3435T>C c.256T>C (p.Tyr86His) c.3079T>C (p.Tyr1027His) c.2125T>C (n.2125T>C) c.330T>C c.1039T>C (p.Tyr347His) c.3082T>C (p.Tyr1028His) c.3064T>C (p.Tyr1022His) c.2902T>C (p.Tyr968His) c.3010T>C (p.Tyr1004His) c.2992T>C (p.Tyr998His) c.2716T>C (p.Tyr906His) n.3291T>C c.2884T>C (p.Tyr962His) c.2698T>C (p.Tyr900His) n.3294T>C c.2989T>C (p.Tyr997His) c.3055T>C (p.Tyr1019His) c.3007T>C (p.Tyr1003His) c.2872T>C (p.Tyr958His) c.2896-25T>C (n.2896-25T>C) | |
16 | g.28836098T>G | CA395409871 | ATXN2L | c.3061T>G (p.Tyr1021Asp) c.1036T>G (p.Tyr346Asp) n.3435T>G c.256T>G (p.Tyr86Asp) c.3079T>G (p.Tyr1027Asp) c.2125T>G (n.2125T>G) c.330T>G c.1039T>G (p.Tyr347Asp) c.3082T>G (p.Tyr1028Asp) c.3064T>G (p.Tyr1022Asp) c.2902T>G (p.Tyr968Asp) c.3010T>G (p.Tyr1004Asp) c.2992T>G (p.Tyr998Asp) c.2716T>G (p.Tyr906Asp) n.3291T>G c.2884T>G (p.Tyr962Asp) c.2698T>G (p.Tyr900Asp) n.3294T>G c.2989T>G (p.Tyr997Asp) c.3055T>G (p.Tyr1019Asp) c.3007T>G (p.Tyr1003Asp) c.2872T>G (p.Tyr958Asp) c.2896-25T>G (n.2896-25T>G) | |
16 | g.28836099A= | CA2215806932 | ATXN2L | c.3062A= (p.Tyr1021=) c.1037A= (p.Tyr346=) n.3436A= c.257A= (p.Tyr86=) c.3080A= (p.Tyr1027=) c.2126A= (n.2126A=) c.331A= c.1040A= (p.Tyr347=) c.3083A= (p.Tyr1028=) c.3065A= (p.Tyr1022=) c.2903A= (p.Tyr968=) c.3011A= (p.Tyr1004=) c.2993A= (p.Tyr998=) c.2717A= (p.Tyr906=) n.3292A= c.2885A= (p.Tyr962=) c.2699A= (p.Tyr900=) n.3295A= c.2990A= (p.Tyr997=) c.3056A= (p.Tyr1019=) c.3008A= (p.Tyr1003=) c.2873A= (p.Tyr958=) c.2896-24A= (n.2896-24A=) | |
16 | g.28836099A>C | CA395409876 | ATXN2L | c.3062A>C (p.Tyr1021Ser) c.1037A>C (p.Tyr346Ser) n.3436A>C c.257A>C (p.Tyr86Ser) c.3080A>C (p.Tyr1027Ser) c.2126A>C (n.2126A>C) c.331A>C c.1040A>C (p.Tyr347Ser) c.3083A>C (p.Tyr1028Ser) c.3065A>C (p.Tyr1022Ser) c.2903A>C (p.Tyr968Ser) c.3011A>C (p.Tyr1004Ser) c.2993A>C (p.Tyr998Ser) c.2717A>C (p.Tyr906Ser) n.3292A>C c.2885A>C (p.Tyr962Ser) c.2699A>C (p.Tyr900Ser) n.3295A>C c.2990A>C (p.Tyr997Ser) c.3056A>C (p.Tyr1019Ser) c.3008A>C (p.Tyr1003Ser) c.2873A>C (p.Tyr958Ser) c.2896-24A>C (n.2896-24A>C) | |
16 | g.28836099A>G | CA279232139 | ATXN2L | c.3062A>G (p.Tyr1021Cys) c.1037A>G (p.Tyr346Cys) n.3436A>G c.257A>G (p.Tyr86Cys) c.3080A>G (p.Tyr1027Cys) c.2126A>G (n.2126A>G) c.331A>G c.1040A>G (p.Tyr347Cys) c.3083A>G (p.Tyr1028Cys) c.3065A>G (p.Tyr1022Cys) c.2903A>G (p.Tyr968Cys) c.3011A>G (p.Tyr1004Cys) c.2993A>G (p.Tyr998Cys) c.2717A>G (p.Tyr906Cys) n.3292A>G c.2885A>G (p.Tyr962Cys) c.2699A>G (p.Tyr900Cys) n.3295A>G c.2990A>G (p.Tyr997Cys) c.3056A>G (p.Tyr1019Cys) c.3008A>G (p.Tyr1003Cys) c.2873A>G (p.Tyr958Cys) c.2896-24A>G (n.2896-24A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28836099A>T | CA395409875 | ATXN2L | c.3062A>T (p.Tyr1021Phe) c.1037A>T (p.Tyr346Phe) n.3436A>T c.257A>T (p.Tyr86Phe) c.3080A>T (p.Tyr1027Phe) c.2126A>T (n.2126A>T) c.331A>T c.1040A>T (p.Tyr347Phe) c.3083A>T (p.Tyr1028Phe) c.3065A>T (p.Tyr1022Phe) c.2903A>T (p.Tyr968Phe) c.3011A>T (p.Tyr1004Phe) c.2993A>T (p.Tyr998Phe) c.2717A>T (p.Tyr906Phe) n.3292A>T c.2885A>T (p.Tyr962Phe) c.2699A>T (p.Tyr900Phe) n.3295A>T c.2990A>T (p.Tyr997Phe) c.3056A>T (p.Tyr1019Phe) c.3008A>T (p.Tyr1003Phe) c.2873A>T (p.Tyr958Phe) c.2896-24A>T (n.2896-24A>T) | dbSNP gnomAD v2 |
16 | g.28836100C>A | CA395409878 | ATXN2L | c.3063C>A (p.Tyr1021Ter) c.1038C>A (p.Tyr346Ter) n.3437C>A c.258C>A (p.Tyr86Ter) c.3081C>A (p.Tyr1027Ter) c.2127C>A (n.2127C>A) c.332C>A c.1041C>A (p.Tyr347Ter) c.3084C>A (p.Tyr1028Ter) c.3066C>A (p.Tyr1022Ter) c.2904C>A (p.Tyr968Ter) c.3012C>A (p.Tyr1004Ter) c.2994C>A (p.Tyr998Ter) c.2718C>A (p.Tyr906Ter) n.3293C>A c.2886C>A (p.Tyr962Ter) c.2700C>A (p.Tyr900Ter) n.3296C>A c.2991C>A (p.Tyr997Ter) c.3057C>A (p.Tyr1019Ter) c.3009C>A (p.Tyr1003Ter) c.2874C>A (p.Tyr958Ter) c.2896-23C>A (n.2896-23C>A) | |
16 | g.28836100C= | CA2215806937 | ATXN2L | c.3063C= (p.Tyr1021=) c.1038C= (p.Tyr346=) n.3437C= c.258C= (p.Tyr86=) c.3081C= (p.Tyr1027=) c.2127C= (n.2127C=) c.332C= c.1041C= (p.Tyr347=) c.3084C= (p.Tyr1028=) c.3066C= (p.Tyr1022=) c.2904C= (p.Tyr968=) c.3012C= (p.Tyr1004=) c.2994C= (p.Tyr998=) c.2718C= (p.Tyr906=) n.3293C= c.2886C= (p.Tyr962=) c.2700C= (p.Tyr900=) n.3296C= c.2991C= (p.Tyr997=) c.3057C= (p.Tyr1019=) c.3009C= (p.Tyr1003=) c.2874C= (p.Tyr958=) c.2896-23C= (n.2896-23C=) | |
16 | g.28836100C>G | CA395409879 | ATXN2L | c.3063C>G (p.Tyr1021Ter) c.1038C>G (p.Tyr346Ter) n.3437C>G c.258C>G (p.Tyr86Ter) c.3081C>G (p.Tyr1027Ter) c.2127C>G (n.2127C>G) c.332C>G c.1041C>G (p.Tyr347Ter) c.3084C>G (p.Tyr1028Ter) c.3066C>G (p.Tyr1022Ter) c.2904C>G (p.Tyr968Ter) c.3012C>G (p.Tyr1004Ter) c.2994C>G (p.Tyr998Ter) c.2718C>G (p.Tyr906Ter) n.3293C>G c.2886C>G (p.Tyr962Ter) c.2700C>G (p.Tyr900Ter) n.3296C>G c.2991C>G (p.Tyr997Ter) c.3057C>G (p.Tyr1019Ter) c.3009C>G (p.Tyr1003Ter) c.2874C>G (p.Tyr958Ter) c.2896-23C>G (n.2896-23C>G) | |
16 | g.28836100C>T | CA494868460 | ATXN2L | c.3063C>T (p.Tyr1021=) c.1038C>T (p.Tyr346=) n.3437C>T c.258C>T (p.Tyr86=) c.3081C>T (p.Tyr1027=) c.2127C>T (n.2127C>T) c.332C>T c.1041C>T (p.Tyr347=) c.3084C>T (p.Tyr1028=) c.3066C>T (p.Tyr1022=) c.2904C>T (p.Tyr968=) c.3012C>T (p.Tyr1004=) c.2994C>T (p.Tyr998=) c.2718C>T (p.Tyr906=) n.3293C>T c.2886C>T (p.Tyr962=) c.2700C>T (p.Tyr900=) n.3296C>T c.2991C>T (p.Tyr997=) c.3057C>T (p.Tyr1019=) c.3009C>T (p.Tyr1003=) c.2874C>T (p.Tyr958=) c.2896-23C>T (n.2896-23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836101C>A | CA395409881 | ATXN2L | c.3064C>A (p.Pro1022Thr) c.1039C>A (p.Pro347Thr) n.3438C>A c.259C>A (p.Pro87Thr) c.3082C>A (p.Pro1028Thr) c.2128C>A (n.2128C>A) c.333C>A c.1042C>A (p.Pro348Thr) c.3085C>A (p.Pro1029Thr) c.3067C>A (p.Pro1023Thr) c.2905C>A (p.Pro969Thr) c.3013C>A (p.Pro1005Thr) c.2995C>A (p.Pro999Thr) c.2719C>A (p.Pro907Thr) n.3294C>A c.2887C>A (p.Pro963Thr) c.2701C>A (p.Pro901Thr) n.3297C>A c.2992C>A (p.Pro998Thr) c.3058C>A (p.Pro1020Thr) c.3010C>A (p.Pro1004Thr) c.2875C>A (p.Pro959Thr) c.2896-22C>A (n.2896-22C>A) | |
16 | g.28836101C= | CA2215806941 | ATXN2L | c.3064C= (p.Pro1022=) c.1039C= (p.Pro347=) n.3438C= c.259C= (p.Pro87=) c.3082C= (p.Pro1028=) c.2128C= (n.2128C=) c.333C= c.1042C= (p.Pro348=) c.3085C= (p.Pro1029=) c.3067C= (p.Pro1023=) c.2905C= (p.Pro969=) c.3013C= (p.Pro1005=) c.2995C= (p.Pro999=) c.2719C= (p.Pro907=) n.3294C= c.2887C= (p.Pro963=) c.2701C= (p.Pro901=) n.3297C= c.2992C= (p.Pro998=) c.3058C= (p.Pro1020=) c.3010C= (p.Pro1004=) c.2875C= (p.Pro959=) c.2896-22C= (n.2896-22C=) | |
16 | g.28836101C>G | CA395409883 | ATXN2L | c.3064C>G (p.Pro1022Ala) c.1039C>G (p.Pro347Ala) n.3438C>G c.259C>G (p.Pro87Ala) c.3082C>G (p.Pro1028Ala) c.2128C>G (n.2128C>G) c.333C>G c.1042C>G (p.Pro348Ala) c.3085C>G (p.Pro1029Ala) c.3067C>G (p.Pro1023Ala) c.2905C>G (p.Pro969Ala) c.3013C>G (p.Pro1005Ala) c.2995C>G (p.Pro999Ala) c.2719C>G (p.Pro907Ala) n.3294C>G c.2887C>G (p.Pro963Ala) c.2701C>G (p.Pro901Ala) n.3297C>G c.2992C>G (p.Pro998Ala) c.3058C>G (p.Pro1020Ala) c.3010C>G (p.Pro1004Ala) c.2875C>G (p.Pro959Ala) c.2896-22C>G (n.2896-22C>G) | |
16 | g.28836101C>T | CA7985169 | ATXN2L | c.3064C>T (p.Pro1022Ser) c.1039C>T (p.Pro347Ser) n.3438C>T c.259C>T (p.Pro87Ser) c.3082C>T (p.Pro1028Ser) c.2128C>T (n.2128C>T) c.333C>T c.1042C>T (p.Pro348Ser) c.3085C>T (p.Pro1029Ser) c.3067C>T (p.Pro1023Ser) c.2905C>T (p.Pro969Ser) c.3013C>T (p.Pro1005Ser) c.2995C>T (p.Pro999Ser) c.2719C>T (p.Pro907Ser) n.3294C>T c.2887C>T (p.Pro963Ser) c.2701C>T (p.Pro901Ser) n.3297C>T c.2992C>T (p.Pro998Ser) c.3058C>T (p.Pro1020Ser) c.3010C>T (p.Pro1004Ser) c.2875C>T (p.Pro959Ser) c.2896-22C>T (n.2896-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836102C>A | CA395409886 | ATXN2L | c.3065C>A (p.Pro1022His) c.1040C>A (p.Pro347His) n.3439C>A c.260C>A (p.Pro87His) c.3083C>A (p.Pro1028His) c.2129C>A (n.2129C>A) c.334C>A c.1043C>A (p.Pro348His) c.3086C>A (p.Pro1029His) c.3068C>A (p.Pro1023His) c.2906C>A (p.Pro969His) c.3014C>A (p.Pro1005His) c.2996C>A (p.Pro999His) c.2720C>A (p.Pro907His) n.3295C>A c.2888C>A (p.Pro963His) c.2702C>A (p.Pro901His) n.3298C>A c.2993C>A (p.Pro998His) c.3059C>A (p.Pro1020His) c.3011C>A (p.Pro1004His) c.2876C>A (p.Pro959His) c.2896-21C>A (n.2896-21C>A) | |
16 | g.28836102C>G | CA395409890 | ATXN2L | c.3065C>G (p.Pro1022Arg) c.1040C>G (p.Pro347Arg) n.3439C>G c.260C>G (p.Pro87Arg) c.3083C>G (p.Pro1028Arg) c.2129C>G (n.2129C>G) c.334C>G c.1043C>G (p.Pro348Arg) c.3086C>G (p.Pro1029Arg) c.3068C>G (p.Pro1023Arg) c.2906C>G (p.Pro969Arg) c.3014C>G (p.Pro1005Arg) c.2996C>G (p.Pro999Arg) c.2720C>G (p.Pro907Arg) n.3295C>G c.2888C>G (p.Pro963Arg) c.2702C>G (p.Pro901Arg) n.3298C>G c.2993C>G (p.Pro998Arg) c.3059C>G (p.Pro1020Arg) c.3011C>G (p.Pro1004Arg) c.2876C>G (p.Pro959Arg) c.2896-21C>G (n.2896-21C>G) | |
16 | g.28836102C>T | CA395409889 | ATXN2L | c.3065C>T (p.Pro1022Leu) c.1040C>T (p.Pro347Leu) n.3439C>T c.260C>T (p.Pro87Leu) c.3083C>T (p.Pro1028Leu) c.2129C>T (n.2129C>T) c.334C>T c.1043C>T (p.Pro348Leu) c.3086C>T (p.Pro1029Leu) c.3068C>T (p.Pro1023Leu) c.2906C>T (p.Pro969Leu) c.3014C>T (p.Pro1005Leu) c.2996C>T (p.Pro999Leu) c.2720C>T (p.Pro907Leu) n.3295C>T c.2888C>T (p.Pro963Leu) c.2702C>T (p.Pro901Leu) n.3298C>T c.2993C>T (p.Pro998Leu) c.3059C>T (p.Pro1020Leu) c.3011C>T (p.Pro1004Leu) c.2876C>T (p.Pro959Leu) c.2896-21C>T (n.2896-21C>T) | gnomAD v4 |
16 | g.28836103C>A | CA279232140 | ATXN2L | c.3066C>A (p.Pro1022=) c.1041C>A (p.Pro347=) n.3440C>A c.261C>A (p.Pro87=) c.3084C>A (p.Pro1028=) c.2130C>A (n.2130C>A) c.335C>A c.1044C>A (p.Pro348=) c.3087C>A (p.Pro1029=) c.3069C>A (p.Pro1023=) c.2907C>A (p.Pro969=) c.3015C>A (p.Pro1005=) c.2997C>A (p.Pro999=) c.2721C>A (p.Pro907=) n.3296C>A c.2889C>A (p.Pro963=) c.2703C>A (p.Pro901=) n.3299C>A c.2994C>A (p.Pro998=) c.3060C>A (p.Pro1020=) c.3012C>A (p.Pro1004=) c.2877C>A (p.Pro959=) c.2896-20C>A (n.2896-20C>A) | dbSNP |
16 | g.28836103C= | CA2215806943 | ATXN2L | c.3066C= (p.Pro1022=) c.1041C= (p.Pro347=) n.3440C= c.261C= (p.Pro87=) c.3084C= (p.Pro1028=) c.2130C= (n.2130C=) c.335C= c.1044C= (p.Pro348=) c.3087C= (p.Pro1029=) c.3069C= (p.Pro1023=) c.2907C= (p.Pro969=) c.3015C= (p.Pro1005=) c.2997C= (p.Pro999=) c.2721C= (p.Pro907=) n.3296C= c.2889C= (p.Pro963=) c.2703C= (p.Pro901=) n.3299C= c.2994C= (p.Pro998=) c.3060C= (p.Pro1020=) c.3012C= (p.Pro1004=) c.2877C= (p.Pro959=) c.2896-20C= (n.2896-20C=) | |
16 | g.28836103C>G | CA494868489 | ATXN2L | c.3066C>G (p.Pro1022=) c.1041C>G (p.Pro347=) n.3440C>G c.261C>G (p.Pro87=) c.3084C>G (p.Pro1028=) c.2130C>G (n.2130C>G) c.335C>G c.1044C>G (p.Pro348=) c.3087C>G (p.Pro1029=) c.3069C>G (p.Pro1023=) c.2907C>G (p.Pro969=) c.3015C>G (p.Pro1005=) c.2997C>G (p.Pro999=) c.2721C>G (p.Pro907=) n.3296C>G c.2889C>G (p.Pro963=) c.2703C>G (p.Pro901=) n.3299C>G c.2994C>G (p.Pro998=) c.3060C>G (p.Pro1020=) c.3012C>G (p.Pro1004=) c.2877C>G (p.Pro959=) c.2896-20C>G (n.2896-20C>G) | |
16 | g.28836103C>T | CA7985170 | ATXN2L | c.3066C>T (p.Pro1022=) c.1041C>T (p.Pro347=) n.3440C>T c.261C>T (p.Pro87=) c.3084C>T (p.Pro1028=) c.2130C>T (n.2130C>T) c.335C>T c.1044C>T (p.Pro348=) c.3087C>T (p.Pro1029=) c.3069C>T (p.Pro1023=) c.2907C>T (p.Pro969=) c.3015C>T (p.Pro1005=) c.2997C>T (p.Pro999=) c.2721C>T (p.Pro907=) n.3296C>T c.2889C>T (p.Pro963=) c.2703C>T (p.Pro901=) n.3299C>T c.2994C>T (p.Pro998=) c.3060C>T (p.Pro1020=) c.3012C>T (p.Pro1004=) c.2877C>T (p.Pro959=) c.2896-20C>T (n.2896-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28836104T>A | CA395409895 | ATXN2L | c.3067T>A (p.Tyr1023Asn) c.1042T>A (p.Tyr348Asn) n.3441T>A c.262T>A (p.Tyr88Asn) c.3085T>A (p.Tyr1029Asn) c.2131T>A (n.2131T>A) c.336T>A c.1045T>A (p.Tyr349Asn) c.3088T>A (p.Tyr1030Asn) c.3070T>A (p.Tyr1024Asn) c.2908T>A (p.Tyr970Asn) c.3016T>A (p.Tyr1006Asn) c.2998T>A (p.Tyr1000Asn) c.2722T>A (p.Tyr908Asn) n.3297T>A c.2890T>A (p.Tyr964Asn) c.2704T>A (p.Tyr902Asn) n.3300T>A c.2995T>A (p.Tyr999Asn) c.3061T>A (p.Tyr1021Asn) c.3013T>A (p.Tyr1005Asn) c.2878T>A (p.Tyr960Asn) c.2896-19T>A (n.2896-19T>A) | |
16 | g.28836104T>C | CA395409897 | ATXN2L | c.3067T>C (p.Tyr1023His) c.1042T>C (p.Tyr348His) n.3441T>C c.262T>C (p.Tyr88His) c.3085T>C (p.Tyr1029His) c.2131T>C (n.2131T>C) c.336T>C c.1045T>C (p.Tyr349His) c.3088T>C (p.Tyr1030His) c.3070T>C (p.Tyr1024His) c.2908T>C (p.Tyr970His) c.3016T>C (p.Tyr1006His) c.2998T>C (p.Tyr1000His) c.2722T>C (p.Tyr908His) n.3297T>C c.2890T>C (p.Tyr964His) c.2704T>C (p.Tyr902His) n.3300T>C c.2995T>C (p.Tyr999His) c.3061T>C (p.Tyr1021His) c.3013T>C (p.Tyr1005His) c.2878T>C (p.Tyr960His) c.2896-19T>C (n.2896-19T>C) | |
16 | g.28836104T>G | CA395409902 | ATXN2L | c.3067T>G (p.Tyr1023Asp) c.1042T>G (p.Tyr348Asp) n.3441T>G c.262T>G (p.Tyr88Asp) c.3085T>G (p.Tyr1029Asp) c.2131T>G (n.2131T>G) c.336T>G c.1045T>G (p.Tyr349Asp) c.3088T>G (p.Tyr1030Asp) c.3070T>G (p.Tyr1024Asp) c.2908T>G (p.Tyr970Asp) c.3016T>G (p.Tyr1006Asp) c.2998T>G (p.Tyr1000Asp) c.2722T>G (p.Tyr908Asp) n.3297T>G c.2890T>G (p.Tyr964Asp) c.2704T>G (p.Tyr902Asp) n.3300T>G c.2995T>G (p.Tyr999Asp) c.3061T>G (p.Tyr1021Asp) c.3013T>G (p.Tyr1005Asp) c.2878T>G (p.Tyr960Asp) c.2896-19T>G (n.2896-19T>G) | |
16 | g.28836105A>C | CA395409904 | ATXN2L | c.3068A>C (p.Tyr1023Ser) c.1043A>C (p.Tyr348Ser) n.3442A>C c.263A>C (p.Tyr88Ser) c.3086A>C (p.Tyr1029Ser) c.2132A>C (n.2132A>C) c.337A>C c.1046A>C (p.Tyr349Ser) c.3089A>C (p.Tyr1030Ser) c.3071A>C (p.Tyr1024Ser) c.2909A>C (p.Tyr970Ser) c.3017A>C (p.Tyr1006Ser) c.2999A>C (p.Tyr1000Ser) c.2723A>C (p.Tyr908Ser) n.3298A>C c.2891A>C (p.Tyr964Ser) c.2705A>C (p.Tyr902Ser) n.3301A>C c.2996A>C (p.Tyr999Ser) c.3062A>C (p.Tyr1021Ser) c.3014A>C (p.Tyr1005Ser) c.2879A>C (p.Tyr960Ser) c.2896-18A>C (n.2896-18A>C) | |
16 | g.28836105A>G | CA395409907 | ATXN2L | c.3068A>G (p.Tyr1023Cys) c.1043A>G (p.Tyr348Cys) n.3442A>G c.263A>G (p.Tyr88Cys) c.3086A>G (p.Tyr1029Cys) c.2132A>G (n.2132A>G) c.337A>G c.1046A>G (p.Tyr349Cys) c.3089A>G (p.Tyr1030Cys) c.3071A>G (p.Tyr1024Cys) c.2909A>G (p.Tyr970Cys) c.3017A>G (p.Tyr1006Cys) c.2999A>G (p.Tyr1000Cys) c.2723A>G (p.Tyr908Cys) n.3298A>G c.2891A>G (p.Tyr964Cys) c.2705A>G (p.Tyr902Cys) n.3301A>G c.2996A>G (p.Tyr999Cys) c.3062A>G (p.Tyr1021Cys) c.3014A>G (p.Tyr1005Cys) c.2879A>G (p.Tyr960Cys) c.2896-18A>G (n.2896-18A>G) | |
16 | g.28836105A>T | CA395409908 | ATXN2L | c.3068A>T (p.Tyr1023Phe) c.1043A>T (p.Tyr348Phe) n.3442A>T c.263A>T (p.Tyr88Phe) c.3086A>T (p.Tyr1029Phe) c.2132A>T (n.2132A>T) c.337A>T c.1046A>T (p.Tyr349Phe) c.3089A>T (p.Tyr1030Phe) c.3071A>T (p.Tyr1024Phe) c.2909A>T (p.Tyr970Phe) c.3017A>T (p.Tyr1006Phe) c.2999A>T (p.Tyr1000Phe) c.2723A>T (p.Tyr908Phe) n.3298A>T c.2891A>T (p.Tyr964Phe) c.2705A>T (p.Tyr902Phe) n.3301A>T c.2996A>T (p.Tyr999Phe) c.3062A>T (p.Tyr1021Phe) c.3014A>T (p.Tyr1005Phe) c.2879A>T (p.Tyr960Phe) c.2896-18A>T (n.2896-18A>T) | gnomAD v4 |
16 | g.28836106C>A | CA395409910 | ATXN2L | c.3069C>A (p.Tyr1023Ter) c.1044C>A (p.Tyr348Ter) n.3443C>A c.264C>A (p.Tyr88Ter) c.3087C>A (p.Tyr1029Ter) c.2133C>A (n.2133C>A) c.338C>A c.1047C>A (p.Tyr349Ter) c.3090C>A (p.Tyr1030Ter) c.3072C>A (p.Tyr1024Ter) c.2910C>A (p.Tyr970Ter) c.3018C>A (p.Tyr1006Ter) c.3000C>A (p.Tyr1000Ter) c.2724C>A (p.Tyr908Ter) n.3299C>A c.2892C>A (p.Tyr964Ter) c.2706C>A (p.Tyr902Ter) n.3302C>A c.2997C>A (p.Tyr999Ter) c.3063C>A (p.Tyr1021Ter) c.3015C>A (p.Tyr1005Ter) c.2880C>A (p.Tyr960Ter) c.2896-17C>A (n.2896-17C>A) | |
16 | g.28836106C= | CA2215806947 | ATXN2L | c.3069C= (p.Tyr1023=) c.1044C= (p.Tyr348=) n.3443C= c.264C= (p.Tyr88=) c.3087C= (p.Tyr1029=) c.2133C= (n.2133C=) c.338C= c.1047C= (p.Tyr349=) c.3090C= (p.Tyr1030=) c.3072C= (p.Tyr1024=) c.2910C= (p.Tyr970=) c.3018C= (p.Tyr1006=) c.3000C= (p.Tyr1000=) c.2724C= (p.Tyr908=) n.3299C= c.2892C= (p.Tyr964=) c.2706C= (p.Tyr902=) n.3302C= c.2997C= (p.Tyr999=) c.3063C= (p.Tyr1021=) c.3015C= (p.Tyr1005=) c.2880C= (p.Tyr960=) c.2896-17C= (n.2896-17C=) | |
16 | g.28836106C>G | CA395409911 | ATXN2L | c.3069C>G (p.Tyr1023Ter) c.1044C>G (p.Tyr348Ter) n.3443C>G c.264C>G (p.Tyr88Ter) c.3087C>G (p.Tyr1029Ter) c.2133C>G (n.2133C>G) c.338C>G c.1047C>G (p.Tyr349Ter) c.3090C>G (p.Tyr1030Ter) c.3072C>G (p.Tyr1024Ter) c.2910C>G (p.Tyr970Ter) c.3018C>G (p.Tyr1006Ter) c.3000C>G (p.Tyr1000Ter) c.2724C>G (p.Tyr908Ter) n.3299C>G c.2892C>G (p.Tyr964Ter) c.2706C>G (p.Tyr902Ter) n.3302C>G c.2997C>G (p.Tyr999Ter) c.3063C>G (p.Tyr1021Ter) c.3015C>G (p.Tyr1005Ter) c.2880C>G (p.Tyr960Ter) c.2896-17C>G (n.2896-17C>G) | |
16 | g.28836106C>T | CA494868515 | ATXN2L | c.3069C>T (p.Tyr1023=) c.1044C>T (p.Tyr348=) n.3443C>T c.264C>T (p.Tyr88=) c.3087C>T (p.Tyr1029=) c.2133C>T (n.2133C>T) c.338C>T c.1047C>T (p.Tyr349=) c.3090C>T (p.Tyr1030=) c.3072C>T (p.Tyr1024=) c.2910C>T (p.Tyr970=) c.3018C>T (p.Tyr1006=) c.3000C>T (p.Tyr1000=) c.2724C>T (p.Tyr908=) n.3299C>T c.2892C>T (p.Tyr964=) c.2706C>T (p.Tyr902=) n.3302C>T c.2997C>T (p.Tyr999=) c.3063C>T (p.Tyr1021=) c.3015C>T (p.Tyr1005=) c.2880C>T (p.Tyr960=) c.2896-17C>T (n.2896-17C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836107A= | CA2215806950 | ATXN2L | c.3070A= (p.Ile1024=) c.1045A= (p.Ile349=) n.3444A= c.265A= (p.Ile89=) c.3088A= (p.Ile1030=) c.2134A= (n.2134A=) c.339A= c.1048A= (p.Ile350=) c.3091A= (p.Ile1031=) c.3073A= (p.Ile1025=) c.2911A= (p.Ile971=) c.3019A= (p.Ile1007=) c.3001A= (p.Ile1001=) c.2725A= (p.Ile909=) n.3300A= c.2893A= (p.Ile965=) c.2707A= (p.Ile903=) n.3303A= c.2998A= (p.Ile1000=) c.3064A= (p.Ile1022=) c.3016A= (p.Ile1006=) c.2881A= (p.Ile961=) c.2896-16A= (n.2896-16A=) | |
16 | g.28836107A>C | CA395409914 | ATXN2L | c.3070A>C (p.Ile1024Leu) c.1045A>C (p.Ile349Leu) n.3444A>C c.265A>C (p.Ile89Leu) c.3088A>C (p.Ile1030Leu) c.2134A>C (n.2134A>C) c.339A>C c.1048A>C (p.Ile350Leu) c.3091A>C (p.Ile1031Leu) c.3073A>C (p.Ile1025Leu) c.2911A>C (p.Ile971Leu) c.3019A>C (p.Ile1007Leu) c.3001A>C (p.Ile1001Leu) c.2725A>C (p.Ile909Leu) n.3300A>C c.2893A>C (p.Ile965Leu) c.2707A>C (p.Ile903Leu) n.3303A>C c.2998A>C (p.Ile1000Leu) c.3064A>C (p.Ile1022Leu) c.3016A>C (p.Ile1006Leu) c.2881A>C (p.Ile961Leu) c.2896-16A>C (n.2896-16A>C) | |
16 | g.28836107A>G | CA395409916 | ATXN2L | c.3070A>G (p.Ile1024Val) c.1045A>G (p.Ile349Val) n.3444A>G c.265A>G (p.Ile89Val) c.3088A>G (p.Ile1030Val) c.2134A>G (n.2134A>G) c.339A>G c.1048A>G (p.Ile350Val) c.3091A>G (p.Ile1031Val) c.3073A>G (p.Ile1025Val) c.2911A>G (p.Ile971Val) c.3019A>G (p.Ile1007Val) c.3001A>G (p.Ile1001Val) c.2725A>G (p.Ile909Val) n.3300A>G c.2893A>G (p.Ile965Val) c.2707A>G (p.Ile903Val) n.3303A>G c.2998A>G (p.Ile1000Val) c.3064A>G (p.Ile1022Val) c.3016A>G (p.Ile1006Val) c.2881A>G (p.Ile961Val) c.2896-16A>G (n.2896-16A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836107A>T | CA395409915 | ATXN2L | c.3070A>T (p.Ile1024Phe) c.1045A>T (p.Ile349Phe) n.3444A>T c.265A>T (p.Ile89Phe) c.3088A>T (p.Ile1030Phe) c.2134A>T (n.2134A>T) c.339A>T c.1048A>T (p.Ile350Phe) c.3091A>T (p.Ile1031Phe) c.3073A>T (p.Ile1025Phe) c.2911A>T (p.Ile971Phe) c.3019A>T (p.Ile1007Phe) c.3001A>T (p.Ile1001Phe) c.2725A>T (p.Ile909Phe) n.3300A>T c.2893A>T (p.Ile965Phe) c.2707A>T (p.Ile903Phe) n.3303A>T c.2998A>T (p.Ile1000Phe) c.3064A>T (p.Ile1022Phe) c.3016A>T (p.Ile1006Phe) c.2881A>T (p.Ile961Phe) c.2896-16A>T (n.2896-16A>T) | |
16 | g.28836108T>A | CA395409918 | ATXN2L | c.3071T>A (p.Ile1024Asn) c.1046T>A (p.Ile349Asn) n.3445T>A c.266T>A (p.Ile89Asn) c.3089T>A (p.Ile1030Asn) c.2135T>A (n.2135T>A) c.340T>A c.1049T>A (p.Ile350Asn) c.3092T>A (p.Ile1031Asn) c.3074T>A (p.Ile1025Asn) c.2912T>A (p.Ile971Asn) c.3020T>A (p.Ile1007Asn) c.3002T>A (p.Ile1001Asn) c.2726T>A (p.Ile909Asn) n.3301T>A c.2894T>A (p.Ile965Asn) c.2708T>A (p.Ile903Asn) n.3304T>A c.2999T>A (p.Ile1000Asn) c.3065T>A (p.Ile1022Asn) c.3017T>A (p.Ile1006Asn) c.2882T>A (p.Ile961Asn) c.2896-15T>A (n.2896-15T>A) | |
16 | g.28836108T>C | CA395409921 | ATXN2L | c.3071T>C (p.Ile1024Thr) c.1046T>C (p.Ile349Thr) n.3445T>C c.266T>C (p.Ile89Thr) c.3089T>C (p.Ile1030Thr) c.2135T>C (n.2135T>C) c.340T>C c.1049T>C (p.Ile350Thr) c.3092T>C (p.Ile1031Thr) c.3074T>C (p.Ile1025Thr) c.2912T>C (p.Ile971Thr) c.3020T>C (p.Ile1007Thr) c.3002T>C (p.Ile1001Thr) c.2726T>C (p.Ile909Thr) n.3301T>C c.2894T>C (p.Ile965Thr) c.2708T>C (p.Ile903Thr) n.3304T>C c.2999T>C (p.Ile1000Thr) c.3065T>C (p.Ile1022Thr) c.3017T>C (p.Ile1006Thr) c.2882T>C (p.Ile961Thr) c.2896-15T>C (n.2896-15T>C) | gnomAD v4 |
16 | g.28836108T>G | CA395409919 | ATXN2L | c.3071T>G (p.Ile1024Ser) c.1046T>G (p.Ile349Ser) n.3445T>G c.266T>G (p.Ile89Ser) c.3089T>G (p.Ile1030Ser) c.2135T>G (n.2135T>G) c.340T>G c.1049T>G (p.Ile350Ser) c.3092T>G (p.Ile1031Ser) c.3074T>G (p.Ile1025Ser) c.2912T>G (p.Ile971Ser) c.3020T>G (p.Ile1007Ser) c.3002T>G (p.Ile1001Ser) c.2726T>G (p.Ile909Ser) n.3301T>G c.2894T>G (p.Ile965Ser) c.2708T>G (p.Ile903Ser) n.3304T>G c.2999T>G (p.Ile1000Ser) c.3065T>G (p.Ile1022Ser) c.3017T>G (p.Ile1006Ser) c.2882T>G (p.Ile961Ser) c.2896-15T>G (n.2896-15T>G) | |
16 | g.28836109C>A | CA494868534 | ATXN2L | c.3072C>A (p.Ile1024=) c.1047C>A (p.Ile349=) n.3446C>A c.267C>A (p.Ile89=) c.3090C>A (p.Ile1030=) c.2136C>A (n.2136C>A) c.341C>A c.1050C>A (p.Ile350=) c.3093C>A (p.Ile1031=) c.3075C>A (p.Ile1025=) c.2913C>A (p.Ile971=) c.3021C>A (p.Ile1007=) c.3003C>A (p.Ile1001=) c.2727C>A (p.Ile909=) n.3302C>A c.2895C>A (p.Ile965=) c.2709C>A (p.Ile903=) n.3305C>A c.3000C>A (p.Ile1000=) c.3066C>A (p.Ile1022=) c.3018C>A (p.Ile1006=) c.2883C>A (p.Ile961=) c.2896-14C>A (n.2896-14C>A) | |
16 | g.28836109C= | CA2215806955 | ATXN2L | c.3072C= (p.Ile1024=) c.1047C= (p.Ile349=) n.3446C= c.267C= (p.Ile89=) c.3090C= (p.Ile1030=) c.2136C= (n.2136C=) c.341C= c.1050C= (p.Ile350=) c.3093C= (p.Ile1031=) c.3075C= (p.Ile1025=) c.2913C= (p.Ile971=) c.3021C= (p.Ile1007=) c.3003C= (p.Ile1001=) c.2727C= (p.Ile909=) n.3302C= c.2895C= (p.Ile965=) c.2709C= (p.Ile903=) n.3305C= c.3000C= (p.Ile1000=) c.3066C= (p.Ile1022=) c.3018C= (p.Ile1006=) c.2883C= (p.Ile961=) c.2896-14C= (n.2896-14C=) | |
16 | g.28836109C>G | CA395409923 | ATXN2L | c.3072C>G (p.Ile1024Met) c.1047C>G (p.Ile349Met) n.3446C>G c.267C>G (p.Ile89Met) c.3090C>G (p.Ile1030Met) c.2136C>G (n.2136C>G) c.341C>G c.1050C>G (p.Ile350Met) c.3093C>G (p.Ile1031Met) c.3075C>G (p.Ile1025Met) c.2913C>G (p.Ile971Met) c.3021C>G (p.Ile1007Met) c.3003C>G (p.Ile1001Met) c.2727C>G (p.Ile909Met) n.3302C>G c.2895C>G (p.Ile965Met) c.2709C>G (p.Ile903Met) n.3305C>G c.3000C>G (p.Ile1000Met) c.3066C>G (p.Ile1022Met) c.3018C>G (p.Ile1006Met) c.2883C>G (p.Ile961Met) c.2896-14C>G (n.2896-14C>G) | |
16 | g.28836109C>T | CA7985171 | ATXN2L | c.3072C>T (p.Ile1024=) c.1047C>T (p.Ile349=) n.3446C>T c.267C>T (p.Ile89=) c.3090C>T (p.Ile1030=) c.2136C>T (n.2136C>T) c.341C>T c.1050C>T (p.Ile350=) c.3093C>T (p.Ile1031=) c.3075C>T (p.Ile1025=) c.2913C>T (p.Ile971=) c.3021C>T (p.Ile1007=) c.3003C>T (p.Ile1001=) c.2727C>T (p.Ile909=) n.3302C>T c.2895C>T (p.Ile965=) c.2709C>T (p.Ile903=) n.3305C>T c.3000C>T (p.Ile1000=) c.3066C>T (p.Ile1022=) c.3018C>T (p.Ile1006=) c.2883C>T (p.Ile961=) c.2896-14C>T (n.2896-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28836110G>A | CA7985172 | ATXN2L | c.3073G>A (p.Gly1025Arg) c.1048G>A (p.Gly350Arg) n.3447G>A c.268G>A (p.Gly90Arg) c.3091G>A (p.Gly1031Arg) c.2137G>A (n.2137G>A) c.342G>A c.1051G>A (p.Gly351Arg) c.3094G>A (p.Gly1032Arg) c.3076G>A (p.Gly1026Arg) c.2914G>A (p.Gly972Arg) c.3022G>A (p.Gly1008Arg) c.3004G>A (p.Gly1002Arg) c.2728G>A (p.Gly910Arg) n.3303G>A c.2896G>A (p.Gly966Arg) c.2710G>A (p.Gly904Arg) n.3306G>A c.3001G>A (p.Gly1001Arg) c.3067G>A (p.Gly1023Arg) c.3019G>A (p.Gly1007Arg) c.2884G>A (p.Gly962Arg) c.2896-13G>A (n.2896-13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836110G>C | CA395409926 | ATXN2L | c.3073G>C (p.Gly1025Arg) c.1048G>C (p.Gly350Arg) n.3447G>C c.268G>C (p.Gly90Arg) c.3091G>C (p.Gly1031Arg) c.2137G>C (n.2137G>C) c.342G>C c.1051G>C (p.Gly351Arg) c.3094G>C (p.Gly1032Arg) c.3076G>C (p.Gly1026Arg) c.2914G>C (p.Gly972Arg) c.3022G>C (p.Gly1008Arg) c.3004G>C (p.Gly1002Arg) c.2728G>C (p.Gly910Arg) n.3303G>C c.2896G>C (p.Gly966Arg) c.2710G>C (p.Gly904Arg) n.3306G>C c.3001G>C (p.Gly1001Arg) c.3067G>C (p.Gly1023Arg) c.3019G>C (p.Gly1007Arg) c.2884G>C (p.Gly962Arg) c.2896-13G>C (n.2896-13G>C) | |
16 | g.28836110G= | CA2215806960 | ATXN2L | c.3073G= (p.Gly1025=) c.1048G= (p.Gly350=) n.3447G= c.268G= (p.Gly90=) c.3091G= (p.Gly1031=) c.2137G= (n.2137G=) c.342G= c.1051G= (p.Gly351=) c.3094G= (p.Gly1032=) c.3076G= (p.Gly1026=) c.2914G= (p.Gly972=) c.3022G= (p.Gly1008=) c.3004G= (p.Gly1002=) c.2728G= (p.Gly910=) n.3303G= c.2896G= (p.Gly966=) c.2710G= (p.Gly904=) n.3306G= c.3001G= (p.Gly1001=) c.3067G= (p.Gly1023=) c.3019G= (p.Gly1007=) c.2884G= (p.Gly962=) c.2896-13G= (n.2896-13G=) | |
16 | g.28836110G>T | CA395409928 | ATXN2L | c.3073G>T (p.Gly1025Ter) c.1048G>T (p.Gly350Ter) n.3447G>T c.268G>T (p.Gly90Ter) c.3091G>T (p.Gly1031Ter) c.2137G>T (n.2137G>T) c.342G>T c.1051G>T (p.Gly351Ter) c.3094G>T (p.Gly1032Ter) c.3076G>T (p.Gly1026Ter) c.2914G>T (p.Gly972Ter) c.3022G>T (p.Gly1008Ter) c.3004G>T (p.Gly1002Ter) c.2728G>T (p.Gly910Ter) n.3303G>T c.2896G>T (p.Gly966Ter) c.2710G>T (p.Gly904Ter) n.3306G>T c.3001G>T (p.Gly1001Ter) c.3067G>T (p.Gly1023Ter) c.3019G>T (p.Gly1007Ter) c.2884G>T (p.Gly962Ter) c.2896-13G>T (n.2896-13G>T) | |
16 | g.28836111G>A | CA395409930 | ATXN2L | c.3074G>A (p.Gly1025Glu) c.1049G>A (p.Gly350Glu) n.3448G>A c.269G>A (p.Gly90Glu) c.3092G>A (p.Gly1031Glu) c.2138G>A (n.2138G>A) c.343G>A c.1052G>A (p.Gly351Glu) c.3095G>A (p.Gly1032Glu) c.3077G>A (p.Gly1026Glu) c.2915G>A (p.Gly972Glu) c.3023G>A (p.Gly1008Glu) c.3005G>A (p.Gly1002Glu) c.2729G>A (p.Gly910Glu) n.3304G>A c.2897G>A (p.Gly966Glu) c.2711G>A (p.Gly904Glu) n.3307G>A c.3002G>A (p.Gly1001Glu) c.3068G>A (p.Gly1023Glu) c.3020G>A (p.Gly1007Glu) c.2885G>A (p.Gly962Glu) c.2896-12G>A (n.2896-12G>A) | |
16 | g.28836111G>C | CA395409933 | ATXN2L | c.3074G>C (p.Gly1025Ala) c.1049G>C (p.Gly350Ala) n.3448G>C c.269G>C (p.Gly90Ala) c.3092G>C (p.Gly1031Ala) c.2138G>C (n.2138G>C) c.343G>C c.1052G>C (p.Gly351Ala) c.3095G>C (p.Gly1032Ala) c.3077G>C (p.Gly1026Ala) c.2915G>C (p.Gly972Ala) c.3023G>C (p.Gly1008Ala) c.3005G>C (p.Gly1002Ala) c.2729G>C (p.Gly910Ala) n.3304G>C c.2897G>C (p.Gly966Ala) c.2711G>C (p.Gly904Ala) n.3307G>C c.3002G>C (p.Gly1001Ala) c.3068G>C (p.Gly1023Ala) c.3020G>C (p.Gly1007Ala) c.2885G>C (p.Gly962Ala) c.2896-12G>C (n.2896-12G>C) | |
16 | g.28836111G>T | CA395409934 | ATXN2L | c.3074G>T (p.Gly1025Val) c.1049G>T (p.Gly350Val) n.3448G>T c.269G>T (p.Gly90Val) c.3092G>T (p.Gly1031Val) c.2138G>T (n.2138G>T) c.343G>T c.1052G>T (p.Gly351Val) c.3095G>T (p.Gly1032Val) c.3077G>T (p.Gly1026Val) c.2915G>T (p.Gly972Val) c.3023G>T (p.Gly1008Val) c.3005G>T (p.Gly1002Val) c.2729G>T (p.Gly910Val) n.3304G>T c.2897G>T (p.Gly966Val) c.2711G>T (p.Gly904Val) n.3307G>T c.3002G>T (p.Gly1001Val) c.3068G>T (p.Gly1023Val) c.3020G>T (p.Gly1007Val) c.2885G>T (p.Gly962Val) c.2896-12G>T (n.2896-12G>T) | |
16 | g.28836112A>C | CA494868594 | ATXN2L | c.3075A>C (p.Gly1025=) c.1050A>C (p.Gly350=) n.3449A>C c.270A>C (p.Gly90=) c.3093A>C (p.Gly1031=) c.2139A>C (n.2139A>C) c.344A>C c.1053A>C (p.Gly351=) c.3096A>C (p.Gly1032=) c.3078A>C (p.Gly1026=) c.2916A>C (p.Gly972=) c.3024A>C (p.Gly1008=) c.3006A>C (p.Gly1002=) c.2730A>C (p.Gly910=) n.3305A>C c.2898A>C (p.Gly966=) c.2712A>C (p.Gly904=) n.3308A>C c.3003A>C (p.Gly1001=) c.3069A>C (p.Gly1023=) c.3021A>C (p.Gly1007=) c.2886A>C (p.Gly962=) c.2896-11A>C (n.2896-11A>C) | |
16 | g.28836112A>G | CA494868600 | ATXN2L | c.3075A>G (p.Gly1025=) c.1050A>G (p.Gly350=) n.3449A>G c.270A>G (p.Gly90=) c.3093A>G (p.Gly1031=) c.2139A>G (n.2139A>G) c.344A>G c.1053A>G (p.Gly351=) c.3096A>G (p.Gly1032=) c.3078A>G (p.Gly1026=) c.2916A>G (p.Gly972=) c.3024A>G (p.Gly1008=) c.3006A>G (p.Gly1002=) c.2730A>G (p.Gly910=) n.3305A>G c.2898A>G (p.Gly966=) c.2712A>G (p.Gly904=) n.3308A>G c.3003A>G (p.Gly1001=) c.3069A>G (p.Gly1023=) c.3021A>G (p.Gly1007=) c.2886A>G (p.Gly962=) c.2896-11A>G (n.2896-11A>G) | |
16 | g.28836112A>T | CA494868603 | ATXN2L | c.3075A>T (p.Gly1025=) c.1050A>T (p.Gly350=) n.3449A>T c.270A>T (p.Gly90=) c.3093A>T (p.Gly1031=) c.2139A>T (n.2139A>T) c.344A>T c.1053A>T (p.Gly351=) c.3096A>T (p.Gly1032=) c.3078A>T (p.Gly1026=) c.2916A>T (p.Gly972=) c.3024A>T (p.Gly1008=) c.3006A>T (p.Gly1002=) c.2730A>T (p.Gly910=) n.3305A>T c.2898A>T (p.Gly966=) c.2712A>T (p.Gly904=) n.3308A>T c.3003A>T (p.Gly1001=) c.3069A>T (p.Gly1023=) c.3021A>T (p.Gly1007=) c.2886A>T (p.Gly962=) c.2896-11A>T (n.2896-11A>T) | |
16 | g.28836113C>A | CA395409937 | ATXN2L | c.3076C>A (p.His1026Asn) c.1051C>A (p.His351Asn) n.3450C>A c.271C>A (p.His91Asn) c.3094C>A (p.His1032Asn) c.2140C>A (n.2140C>A) c.345C>A c.1054C>A (p.His352Asn) c.3097C>A (p.His1033Asn) c.3079C>A (p.His1027Asn) c.2917C>A (p.His973Asn) c.3025C>A (p.His1009Asn) c.3007C>A (p.His1003Asn) c.2731C>A (p.His911Asn) n.3306C>A c.2899C>A (p.His967Asn) c.2713C>A (p.His905Asn) n.3309C>A c.3004C>A (p.His1002Asn) c.3070C>A (p.His1024Asn) c.3022C>A (p.His1008Asn) c.2887C>A (p.His963Asn) c.2896-10C>A (n.2896-10C>A) | |
16 | g.28836113C= | CA2215806962 | ATXN2L | c.3076C= (p.His1026=) c.1051C= (p.His351=) n.3450C= c.271C= (p.His91=) c.3094C= (p.His1032=) c.2140C= (n.2140C=) c.345C= c.1054C= (p.His352=) c.3097C= (p.His1033=) c.3079C= (p.His1027=) c.2917C= (p.His973=) c.3025C= (p.His1009=) c.3007C= (p.His1003=) c.2731C= (p.His911=) n.3306C= c.2899C= (p.His967=) c.2713C= (p.His905=) n.3309C= c.3004C= (p.His1002=) c.3070C= (p.His1024=) c.3022C= (p.His1008=) c.2887C= (p.His963=) c.2896-10C= (n.2896-10C=) | |
16 | g.28836113C>G | CA395409938 | ATXN2L | c.3076C>G (p.His1026Asp) c.1051C>G (p.His351Asp) n.3450C>G c.271C>G (p.His91Asp) c.3094C>G (p.His1032Asp) c.2140C>G (n.2140C>G) c.345C>G c.1054C>G (p.His352Asp) c.3097C>G (p.His1033Asp) c.3079C>G (p.His1027Asp) c.2917C>G (p.His973Asp) c.3025C>G (p.His1009Asp) c.3007C>G (p.His1003Asp) c.2731C>G (p.His911Asp) n.3306C>G c.2899C>G (p.His967Asp) c.2713C>G (p.His905Asp) n.3309C>G c.3004C>G (p.His1002Asp) c.3070C>G (p.His1024Asp) c.3022C>G (p.His1008Asp) c.2887C>G (p.His963Asp) c.2896-10C>G (n.2896-10C>G) | |
16 | g.28836113C>T | CA395409942 | ATXN2L | c.3076C>T (p.His1026Tyr) c.1051C>T (p.His351Tyr) n.3450C>T c.271C>T (p.His91Tyr) c.3094C>T (p.His1032Tyr) c.2140C>T (n.2140C>T) c.345C>T c.1054C>T (p.His352Tyr) c.3097C>T (p.His1033Tyr) c.3079C>T (p.His1027Tyr) c.2917C>T (p.His973Tyr) c.3025C>T (p.His1009Tyr) c.3007C>T (p.His1003Tyr) c.2731C>T (p.His911Tyr) n.3306C>T c.2899C>T (p.His967Tyr) c.2713C>T (p.His905Tyr) n.3309C>T c.3004C>T (p.His1002Tyr) c.3070C>T (p.His1024Tyr) c.3022C>T (p.His1008Tyr) c.2887C>T (p.His963Tyr) c.2896-10C>T (n.2896-10C>T) | dbSNP gnomAD v4 |
16 | g.28836114A>C | CA395409945 | ATXN2L | c.3077A>C (p.His1026Pro) c.1052A>C (p.His351Pro) n.3451A>C c.272A>C (p.His91Pro) c.3095A>C (p.His1032Pro) c.2141A>C (n.2141A>C) c.346A>C c.1055A>C (p.His352Pro) c.3098A>C (p.His1033Pro) c.3080A>C (p.His1027Pro) c.2918A>C (p.His973Pro) c.3026A>C (p.His1009Pro) c.3008A>C (p.His1003Pro) c.2732A>C (p.His911Pro) n.3307A>C c.2900A>C (p.His967Pro) c.2714A>C (p.His905Pro) n.3310A>C c.3005A>C (p.His1002Pro) c.3071A>C (p.His1024Pro) c.3023A>C (p.His1008Pro) c.2888A>C (p.His963Pro) c.2896-9A>C (n.2896-9A>C) | |
16 | g.28836114A>G | CA395409947 | ATXN2L | c.3077A>G (p.His1026Arg) c.1052A>G (p.His351Arg) n.3451A>G c.272A>G (p.His91Arg) c.3095A>G (p.His1032Arg) c.2141A>G (n.2141A>G) c.346A>G c.1055A>G (p.His352Arg) c.3098A>G (p.His1033Arg) c.3080A>G (p.His1027Arg) c.2918A>G (p.His973Arg) c.3026A>G (p.His1009Arg) c.3008A>G (p.His1003Arg) c.2732A>G (p.His911Arg) n.3307A>G c.2900A>G (p.His967Arg) c.2714A>G (p.His905Arg) n.3310A>G c.3005A>G (p.His1002Arg) c.3071A>G (p.His1024Arg) c.3023A>G (p.His1008Arg) c.2888A>G (p.His963Arg) c.2896-9A>G (n.2896-9A>G) | |
16 | g.28836114A>T | CA395409946 | ATXN2L | c.3077A>T (p.His1026Leu) c.1052A>T (p.His351Leu) n.3451A>T c.272A>T (p.His91Leu) c.3095A>T (p.His1032Leu) c.2141A>T (n.2141A>T) c.346A>T c.1055A>T (p.His352Leu) c.3098A>T (p.His1033Leu) c.3080A>T (p.His1027Leu) c.2918A>T (p.His973Leu) c.3026A>T (p.His1009Leu) c.3008A>T (p.His1003Leu) c.2732A>T (p.His911Leu) n.3307A>T c.2900A>T (p.His967Leu) c.2714A>T (p.His905Leu) n.3310A>T c.3005A>T (p.His1002Leu) c.3071A>T (p.His1024Leu) c.3023A>T (p.His1008Leu) c.2888A>T (p.His963Leu) c.2896-9A>T (n.2896-9A>T) | |
16 | g.28836115C>A | CA395409950 | ATXN2L | c.3078C>A (p.His1026Gln) c.1053C>A (p.His351Gln) n.3452C>A c.273C>A (p.His91Gln) c.3096C>A (p.His1032Gln) c.2142C>A (n.2142C>A) c.347C>A c.1056C>A (p.His352Gln) c.3099C>A (p.His1033Gln) c.3081C>A (p.His1027Gln) c.2919C>A (p.His973Gln) c.3027C>A (p.His1009Gln) c.3009C>A (p.His1003Gln) c.2733C>A (p.His911Gln) n.3308C>A c.2901C>A (p.His967Gln) c.2715C>A (p.His905Gln) n.3311C>A c.3006C>A (p.His1002Gln) c.3072C>A (p.His1024Gln) c.3024C>A (p.His1008Gln) c.2889C>A (p.His963Gln) c.2896-8C>A (n.2896-8C>A) | |
16 | g.28836115C= | CA2215806969 | ATXN2L | c.3078C= (p.His1026=) c.1053C= (p.His351=) n.3452C= c.273C= (p.His91=) c.3096C= (p.His1032=) c.2142C= (n.2142C=) c.347C= c.1056C= (p.His352=) c.3099C= (p.His1033=) c.3081C= (p.His1027=) c.2919C= (p.His973=) c.3027C= (p.His1009=) c.3009C= (p.His1003=) c.2733C= (p.His911=) n.3308C= c.2901C= (p.His967=) c.2715C= (p.His905=) n.3311C= c.3006C= (p.His1002=) c.3072C= (p.His1024=) c.3024C= (p.His1008=) c.2889C= (p.His963=) c.2896-8C= (n.2896-8C=) | |
16 | g.28836115C>G | CA395409952 | ATXN2L | c.3078C>G (p.His1026Gln) c.1053C>G (p.His351Gln) n.3452C>G c.273C>G (p.His91Gln) c.3096C>G (p.His1032Gln) c.2142C>G (n.2142C>G) c.347C>G c.1056C>G (p.His352Gln) c.3099C>G (p.His1033Gln) c.3081C>G (p.His1027Gln) c.2919C>G (p.His973Gln) c.3027C>G (p.His1009Gln) c.3009C>G (p.His1003Gln) c.2733C>G (p.His911Gln) n.3308C>G c.2901C>G (p.His967Gln) c.2715C>G (p.His905Gln) n.3311C>G c.3006C>G (p.His1002Gln) c.3072C>G (p.His1024Gln) c.3024C>G (p.His1008Gln) c.2889C>G (p.His963Gln) c.2896-8C>G (n.2896-8C>G) | gnomAD v4 |
16 | g.28836115C>T | CA494868629 | ATXN2L | c.3078C>T (p.His1026=) c.1053C>T (p.His351=) n.3452C>T c.273C>T (p.His91=) c.3096C>T (p.His1032=) c.2142C>T (n.2142C>T) c.347C>T c.1056C>T (p.His352=) c.3099C>T (p.His1033=) c.3081C>T (p.His1027=) c.2919C>T (p.His973=) c.3027C>T (p.His1009=) c.3009C>T (p.His1003=) c.2733C>T (p.His911=) n.3308C>T c.2901C>T (p.His967=) c.2715C>T (p.His905=) n.3311C>T c.3006C>T (p.His1002=) c.3072C>T (p.His1024=) c.3024C>T (p.His1008=) c.2889C>T (p.His963=) c.2896-8C>T (n.2896-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836116C>A | CA395409955 | ATXN2L | c.3079C>A (p.Pro1027Thr) c.1054C>A (p.Pro352Thr) n.3453C>A c.274C>A (p.Pro92Thr) c.3097C>A (p.Pro1033Thr) c.2143C>A (n.2143C>A) c.348C>A c.1057C>A (p.Pro353Thr) c.3100C>A (p.Pro1034Thr) c.3082C>A (p.Pro1028Thr) c.2920C>A (p.Pro974Thr) c.3028C>A (p.Pro1010Thr) c.3010C>A (p.Pro1004Thr) c.2734C>A (p.Pro912Thr) n.3309C>A c.2902C>A (p.Pro968Thr) c.2716C>A (p.Pro906Thr) n.3312C>A c.3007C>A (p.Pro1003Thr) c.3073C>A (p.Pro1025Thr) c.3025C>A (p.Pro1009Thr) c.2890C>A (p.Pro964Thr) c.2896-7C>A (n.2896-7C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836116C= | CA2215806972 | ATXN2L | c.3079C= (p.Pro1027=) c.1054C= (p.Pro352=) n.3453C= c.274C= (p.Pro92=) c.3097C= (p.Pro1033=) c.2143C= (n.2143C=) c.348C= c.1057C= (p.Pro353=) c.3100C= (p.Pro1034=) c.3082C= (p.Pro1028=) c.2920C= (p.Pro974=) c.3028C= (p.Pro1010=) c.3010C= (p.Pro1004=) c.2734C= (p.Pro912=) n.3309C= c.2902C= (p.Pro968=) c.2716C= (p.Pro906=) n.3312C= c.3007C= (p.Pro1003=) c.3073C= (p.Pro1025=) c.3025C= (p.Pro1009=) c.2890C= (p.Pro964=) c.2896-7C= (n.2896-7C=) | |
16 | g.28836116C>G | CA395409957 | ATXN2L | c.3079C>G (p.Pro1027Ala) c.1054C>G (p.Pro352Ala) n.3453C>G c.274C>G (p.Pro92Ala) c.3097C>G (p.Pro1033Ala) c.2143C>G (n.2143C>G) c.348C>G c.1057C>G (p.Pro353Ala) c.3100C>G (p.Pro1034Ala) c.3082C>G (p.Pro1028Ala) c.2920C>G (p.Pro974Ala) c.3028C>G (p.Pro1010Ala) c.3010C>G (p.Pro1004Ala) c.2734C>G (p.Pro912Ala) n.3309C>G c.2902C>G (p.Pro968Ala) c.2716C>G (p.Pro906Ala) n.3312C>G c.3007C>G (p.Pro1003Ala) c.3073C>G (p.Pro1025Ala) c.3025C>G (p.Pro1009Ala) c.2890C>G (p.Pro964Ala) c.2896-7C>G (n.2896-7C>G) | |
16 | g.28836116C>T | CA395409958 | ATXN2L | c.3079C>T (p.Pro1027Ser) c.1054C>T (p.Pro352Ser) n.3453C>T c.274C>T (p.Pro92Ser) c.3097C>T (p.Pro1033Ser) c.2143C>T (n.2143C>T) c.348C>T c.1057C>T (p.Pro353Ser) c.3100C>T (p.Pro1034Ser) c.3082C>T (p.Pro1028Ser) c.2920C>T (p.Pro974Ser) c.3028C>T (p.Pro1010Ser) c.3010C>T (p.Pro1004Ser) c.2734C>T (p.Pro912Ser) n.3309C>T c.2902C>T (p.Pro968Ser) c.2716C>T (p.Pro906Ser) n.3312C>T c.3007C>T (p.Pro1003Ser) c.3073C>T (p.Pro1025Ser) c.3025C>T (p.Pro1009Ser) c.2890C>T (p.Pro964Ser) c.2896-7C>T (n.2896-7C>T) | COSMIC COSMIC |
16 | g.28836117C>A | CA395409959 | ATXN2L | c.3080C>A (p.Pro1027His) c.1055C>A (p.Pro352His) n.3454C>A c.275C>A (p.Pro92His) c.3098C>A (p.Pro1033His) c.2144C>A (n.2144C>A) c.349C>A c.1058C>A (p.Pro353His) c.3101C>A (p.Pro1034His) c.3083C>A (p.Pro1028His) c.2921C>A (p.Pro974His) c.3029C>A (p.Pro1010His) c.3011C>A (p.Pro1004His) c.2735C>A (p.Pro912His) n.3310C>A c.2903C>A (p.Pro968His) c.2717C>A (p.Pro906His) n.3313C>A c.3008C>A (p.Pro1003His) c.3074C>A (p.Pro1025His) c.3026C>A (p.Pro1009His) c.2891C>A (p.Pro964His) c.2896-6C>A (n.2896-6C>A) | |
16 | g.28836117C= | CA2215806974 | ATXN2L | c.3080C= (p.Pro1027=) c.1055C= (p.Pro352=) n.3454C= c.275C= (p.Pro92=) c.3098C= (p.Pro1033=) c.2144C= (n.2144C=) c.349C= c.1058C= (p.Pro353=) c.3101C= (p.Pro1034=) c.3083C= (p.Pro1028=) c.2921C= (p.Pro974=) c.3029C= (p.Pro1010=) c.3011C= (p.Pro1004=) c.2735C= (p.Pro912=) n.3310C= c.2903C= (p.Pro968=) c.2717C= (p.Pro906=) n.3313C= c.3008C= (p.Pro1003=) c.3074C= (p.Pro1025=) c.3026C= (p.Pro1009=) c.2891C= (p.Pro964=) c.2896-6C= (n.2896-6C=) | |
16 | g.28836117C>G | CA395409964 | ATXN2L | c.3080C>G (p.Pro1027Arg) c.1055C>G (p.Pro352Arg) n.3454C>G c.275C>G (p.Pro92Arg) c.3098C>G (p.Pro1033Arg) c.2144C>G (n.2144C>G) c.349C>G c.1058C>G (p.Pro353Arg) c.3101C>G (p.Pro1034Arg) c.3083C>G (p.Pro1028Arg) c.2921C>G (p.Pro974Arg) c.3029C>G (p.Pro1010Arg) c.3011C>G (p.Pro1004Arg) c.2735C>G (p.Pro912Arg) n.3310C>G c.2903C>G (p.Pro968Arg) c.2717C>G (p.Pro906Arg) n.3313C>G c.3008C>G (p.Pro1003Arg) c.3074C>G (p.Pro1025Arg) c.3026C>G (p.Pro1009Arg) c.2891C>G (p.Pro964Arg) c.2896-6C>G (n.2896-6C>G) | |
16 | g.28836117C>T | CA395409966 | ATXN2L | c.3080C>T (p.Pro1027Leu) c.1055C>T (p.Pro352Leu) n.3454C>T c.275C>T (p.Pro92Leu) c.3098C>T (p.Pro1033Leu) c.2144C>T (n.2144C>T) c.349C>T c.1058C>T (p.Pro353Leu) c.3101C>T (p.Pro1034Leu) c.3083C>T (p.Pro1028Leu) c.2921C>T (p.Pro974Leu) c.3029C>T (p.Pro1010Leu) c.3011C>T (p.Pro1004Leu) c.2735C>T (p.Pro912Leu) n.3310C>T c.2903C>T (p.Pro968Leu) c.2717C>T (p.Pro906Leu) n.3313C>T c.3008C>T (p.Pro1003Leu) c.3074C>T (p.Pro1025Leu) c.3026C>T (p.Pro1009Leu) c.2891C>T (p.Pro964Leu) c.2896-6C>T (n.2896-6C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28836118C>A | CA494868675 | ATXN2L | c.3081C>A (p.Pro1027=) c.1056C>A (p.Pro352=) n.3455C>A c.276C>A (p.Pro92=) c.3099C>A (p.Pro1033=) c.2145C>A (n.2145C>A) c.350C>A c.1059C>A (p.Pro353=) c.3102C>A (p.Pro1034=) c.3084C>A (p.Pro1028=) c.2922C>A (p.Pro974=) c.3030C>A (p.Pro1010=) c.3012C>A (p.Pro1004=) c.2736C>A (p.Pro912=) n.3311C>A c.2904C>A (p.Pro968=) c.2718C>A (p.Pro906=) n.3314C>A c.3009C>A (p.Pro1003=) c.3075C>A (p.Pro1025=) c.3027C>A (p.Pro1009=) c.2892C>A (p.Pro964=) c.2896-5C>A (n.2896-5C>A) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28836118C= | CA2215806978 | ATXN2L | c.3081C= (p.Pro1027=) c.1056C= (p.Pro352=) n.3455C= c.276C= (p.Pro92=) c.3099C= (p.Pro1033=) c.2145C= (n.2145C=) c.350C= c.1059C= (p.Pro353=) c.3102C= (p.Pro1034=) c.3084C= (p.Pro1028=) c.2922C= (p.Pro974=) c.3030C= (p.Pro1010=) c.3012C= (p.Pro1004=) c.2736C= (p.Pro912=) n.3311C= c.2904C= (p.Pro968=) c.2718C= (p.Pro906=) n.3314C= c.3009C= (p.Pro1003=) c.3075C= (p.Pro1025=) c.3027C= (p.Pro1009=) c.2892C= (p.Pro964=) c.2896-5C= (n.2896-5C=) | |
16 | g.28836118C>G | CA7985173 | ATXN2L | c.3081C>G (p.Pro1027=) c.1056C>G (p.Pro352=) n.3455C>G c.276C>G (p.Pro92=) c.3099C>G (p.Pro1033=) c.2145C>G (n.2145C>G) c.350C>G c.1059C>G (p.Pro353=) c.3102C>G (p.Pro1034=) c.3084C>G (p.Pro1028=) c.2922C>G (p.Pro974=) c.3030C>G (p.Pro1010=) c.3012C>G (p.Pro1004=) c.2736C>G (p.Pro912=) n.3311C>G c.2904C>G (p.Pro968=) c.2718C>G (p.Pro906=) n.3314C>G c.3009C>G (p.Pro1003=) c.3075C>G (p.Pro1025=) c.3027C>G (p.Pro1009=) c.2892C>G (p.Pro964=) c.2896-5C>G (n.2896-5C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836118C>T | CA494868684 | ATXN2L | c.3081C>T (p.Pro1027=) c.1056C>T (p.Pro352=) n.3455C>T c.276C>T (p.Pro92=) c.3099C>T (p.Pro1033=) c.2145C>T (n.2145C>T) c.350C>T c.1059C>T (p.Pro353=) c.3102C>T (p.Pro1034=) c.3084C>T (p.Pro1028=) c.2922C>T (p.Pro974=) c.3030C>T (p.Pro1010=) c.3012C>T (p.Pro1004=) c.2736C>T (p.Pro912=) n.3311C>T c.2904C>T (p.Pro968=) c.2718C>T (p.Pro906=) n.3314C>T c.3009C>T (p.Pro1003=) c.3075C>T (p.Pro1025=) c.3027C>T (p.Pro1009=) c.2892C>T (p.Pro964=) c.2896-5C>T (n.2896-5C>T) | |
16 | g.28836119C>A | CA395409970 | ATXN2L | c.3082C>A (p.Gln1028Lys) c.1057C>A (p.Gln353Lys) n.3456C>A c.277C>A (p.Gln93Lys) c.3100C>A (p.Gln1034Lys) c.2146C>A (n.2146C>A) c.351C>A c.1060C>A (p.Gln354Lys) c.3103C>A (p.Gln1035Lys) c.3085C>A (p.Gln1029Lys) c.2923C>A (p.Gln975Lys) c.3031C>A (p.Gln1011Lys) c.3013C>A (p.Gln1005Lys) c.2737C>A (p.Gln913Lys) n.3312C>A c.2905C>A (p.Gln969Lys) c.2719C>A (p.Gln907Lys) n.3315C>A c.3010C>A (p.Gln1004Lys) c.3076C>A (p.Gln1026Lys) c.3028C>A (p.Gln1010Lys) c.2893C>A (p.Gln965Lys) c.2896-4C>A (n.2896-4C>A) | |
16 | g.28836119C>G | CA395409972 | ATXN2L | c.3082C>G (p.Gln1028Glu) c.1057C>G (p.Gln353Glu) n.3456C>G c.277C>G (p.Gln93Glu) c.3100C>G (p.Gln1034Glu) c.2146C>G (n.2146C>G) c.351C>G c.1060C>G (p.Gln354Glu) c.3103C>G (p.Gln1035Glu) c.3085C>G (p.Gln1029Glu) c.2923C>G (p.Gln975Glu) c.3031C>G (p.Gln1011Glu) c.3013C>G (p.Gln1005Glu) c.2737C>G (p.Gln913Glu) n.3312C>G c.2905C>G (p.Gln969Glu) c.2719C>G (p.Gln907Glu) n.3315C>G c.3010C>G (p.Gln1004Glu) c.3076C>G (p.Gln1026Glu) c.3028C>G (p.Gln1010Glu) c.2893C>G (p.Gln965Glu) c.2896-4C>G (n.2896-4C>G) | |
16 | g.28836119C>T | CA395409968 | ATXN2L | c.3082C>T (p.Gln1028Ter) c.1057C>T (p.Gln353Ter) n.3456C>T c.277C>T (p.Gln93Ter) c.3100C>T (p.Gln1034Ter) c.2146C>T (n.2146C>T) c.351C>T c.1060C>T (p.Gln354Ter) c.3103C>T (p.Gln1035Ter) c.3085C>T (p.Gln1029Ter) c.2923C>T (p.Gln975Ter) c.3031C>T (p.Gln1011Ter) c.3013C>T (p.Gln1005Ter) c.2737C>T (p.Gln913Ter) n.3312C>T c.2905C>T (p.Gln969Ter) c.2719C>T (p.Gln907Ter) n.3315C>T c.3010C>T (p.Gln1004Ter) c.3076C>T (p.Gln1026Ter) c.3028C>T (p.Gln1010Ter) c.2893C>T (p.Gln965Ter) c.2896-4C>T (n.2896-4C>T) | gnomAD v4 |
16 | g.28836120A>C | CA395409974 | ATXN2L | c.3083A>C (p.Gln1028Pro) c.1058A>C (p.Gln353Pro) n.3457A>C c.278A>C (p.Gln93Pro) c.3101A>C (p.Gln1034Pro) c.2147A>C (n.2147A>C) c.352A>C c.1061A>C (p.Gln354Pro) c.3104A>C (p.Gln1035Pro) c.3086A>C (p.Gln1029Pro) c.2924A>C (p.Gln975Pro) c.3032A>C (p.Gln1011Pro) c.3014A>C (p.Gln1005Pro) c.2738A>C (p.Gln913Pro) n.3313A>C c.2906A>C (p.Gln969Pro) c.2720A>C (p.Gln907Pro) n.3316A>C c.3011A>C (p.Gln1004Pro) c.3077A>C (p.Gln1026Pro) c.3029A>C (p.Gln1010Pro) c.2894A>C (p.Gln965Pro) c.2896-3A>C (n.2896-3A>C) | |
16 | g.28836120A>G | CA395409976 | ATXN2L | c.3083A>G (p.Gln1028Arg) c.1058A>G (p.Gln353Arg) n.3457A>G c.278A>G (p.Gln93Arg) c.3101A>G (p.Gln1034Arg) c.2147A>G (n.2147A>G) c.352A>G c.1061A>G (p.Gln354Arg) c.3104A>G (p.Gln1035Arg) c.3086A>G (p.Gln1029Arg) c.2924A>G (p.Gln975Arg) c.3032A>G (p.Gln1011Arg) c.3014A>G (p.Gln1005Arg) c.2738A>G (p.Gln913Arg) n.3313A>G c.2906A>G (p.Gln969Arg) c.2720A>G (p.Gln907Arg) n.3316A>G c.3011A>G (p.Gln1004Arg) c.3077A>G (p.Gln1026Arg) c.3029A>G (p.Gln1010Arg) c.2894A>G (p.Gln965Arg) c.2896-3A>G (n.2896-3A>G) | |
16 | g.28836120A>T | CA395409978 | ATXN2L | c.3083A>T (p.Gln1028Leu) c.1058A>T (p.Gln353Leu) n.3457A>T c.278A>T (p.Gln93Leu) c.3101A>T (p.Gln1034Leu) c.2147A>T (n.2147A>T) c.352A>T c.1061A>T (p.Gln354Leu) c.3104A>T (p.Gln1035Leu) c.3086A>T (p.Gln1029Leu) c.2924A>T (p.Gln975Leu) c.3032A>T (p.Gln1011Leu) c.3014A>T (p.Gln1005Leu) c.2738A>T (p.Gln913Leu) n.3313A>T c.2906A>T (p.Gln969Leu) c.2720A>T (p.Gln907Leu) n.3316A>T c.3011A>T (p.Gln1004Leu) c.3077A>T (p.Gln1026Leu) c.3029A>T (p.Gln1010Leu) c.2894A>T (p.Gln965Leu) c.2896-3A>T (n.2896-3A>T) | |
16 | g.28836121A>C | CA395409980 | ATXN2L | c.3084A>C (p.Gln1028His) c.1059A>C (p.Gln353His) n.3458A>C c.279A>C (p.Gln93His) c.3102A>C (p.Gln1034His) c.2148A>C (n.2148A>C) c.353A>C c.1062A>C (p.Gln354His) c.3105A>C (p.Gln1035His) c.3087A>C (p.Gln1029His) c.2925A>C (p.Gln975His) c.3033A>C (p.Gln1011His) c.3015A>C (p.Gln1005His) c.2739A>C (p.Gln913His) n.3314A>C c.2907A>C (p.Gln969His) c.2721A>C (p.Gln907His) n.3317A>C c.3012A>C (p.Gln1004His) c.3078A>C (p.Gln1026His) c.3030A>C (p.Gln1010His) c.2895A>C (p.Gln965His) c.2896-2A>C (n.2896-2A>C) | |
16 | g.28836121A>G | CA494868726 | ATXN2L | c.3084A>G (p.Gln1028=) c.1059A>G (p.Gln353=) n.3458A>G c.279A>G (p.Gln93=) c.3102A>G (p.Gln1034=) c.2148A>G (n.2148A>G) c.353A>G c.1062A>G (p.Gln354=) c.3105A>G (p.Gln1035=) c.3087A>G (p.Gln1029=) c.2925A>G (p.Gln975=) c.3033A>G (p.Gln1011=) c.3015A>G (p.Gln1005=) c.2739A>G (p.Gln913=) n.3314A>G c.2907A>G (p.Gln969=) c.2721A>G (p.Gln907=) n.3317A>G c.3012A>G (p.Gln1004=) c.3078A>G (p.Gln1026=) c.3030A>G (p.Gln1010=) c.2895A>G (p.Gln965=) c.2896-2A>G (n.2896-2A>G) | |
16 | g.28836121A>T | CA395409982 | ATXN2L | c.3084A>T (p.Gln1028His) c.1059A>T (p.Gln353His) n.3458A>T c.279A>T (p.Gln93His) c.3102A>T (p.Gln1034His) c.2148A>T (n.2148A>T) c.353A>T c.1062A>T (p.Gln354His) c.3105A>T (p.Gln1035His) c.3087A>T (p.Gln1029His) c.2925A>T (p.Gln975His) c.3033A>T (p.Gln1011His) c.3015A>T (p.Gln1005His) c.2739A>T (p.Gln913His) n.3314A>T c.2907A>T (p.Gln969His) c.2721A>T (p.Gln907His) n.3317A>T c.3012A>T (p.Gln1004His) c.3078A>T (p.Gln1026His) c.3030A>T (p.Gln1010His) c.2895A>T (p.Gln965His) c.2896-2A>T (n.2896-2A>T) | gnomAD v4 |
16 | g.28836122G>A | CA395409984 | ATXN2L | c.3085G>A (p.Gly1029Ser) c.3085G>A (p.Val1029Ile) c.3085G>A (p.Ala1029Thr) c.1060G>A (p.Gly354Ser) n.3459G>A c.280G>A (p.Ala94Thr) c.3103G>A (p.Gly1035Ser) c.2149G>A (n.2149G>A) c.354G>A c.1063G>A (p.Gly355Ser) c.3106G>A (p.Gly1036Ser) c.3088G>A (p.Gly1030Ser) c.3106G>A (p.Val1036Ile) c.3106G>A (p.Ala1036Thr) c.3103G>A (p.Val1035Ile) c.2926G>A (p.Gly976Ser) c.3034G>A (p.Gly1012Ser) c.3016G>A (p.Gly1006Ser) c.2740G>A (p.Gly914Ser) n.3315G>A c.2908G>A (p.Gly970Ser) c.2722G>A (p.Gly908Ser) n.3318G>A c.3088G>A (p.Val1030Ile) c.3013G>A (p.Gly1005Ser) c.3079G>A (p.Gly1027Ser) c.3013G>A (p.Val1005Ile) c.3103G>A (p.Ala1035Thr) c.3088G>A (p.Ala1030Thr) c.3031G>A (p.Gly1011Ser) c.3016G>A (p.Val1006Ile) c.3031G>A (p.Ala1011Thr) c.2896G>A (p.Gly966Ser) c.2896-1G>A (n.2896-1G>A) | |
16 | g.28836122G>C | CA395409985 | ATXN2L | c.3085G>C (p.Gly1029Arg) c.3085G>C (p.Val1029Leu) c.3085G>C (p.Ala1029Pro) c.1060G>C (p.Gly354Arg) n.3459G>C c.280G>C (p.Ala94Pro) c.3103G>C (p.Gly1035Arg) c.2149G>C (n.2149G>C) c.354G>C c.1063G>C (p.Gly355Arg) c.3106G>C (p.Gly1036Arg) c.3088G>C (p.Gly1030Arg) c.3106G>C (p.Val1036Leu) c.3106G>C (p.Ala1036Pro) c.3103G>C (p.Val1035Leu) c.2926G>C (p.Gly976Arg) c.3034G>C (p.Gly1012Arg) c.3016G>C (p.Gly1006Arg) c.2740G>C (p.Gly914Arg) n.3315G>C c.2908G>C (p.Gly970Arg) c.2722G>C (p.Gly908Arg) n.3318G>C c.3088G>C (p.Val1030Leu) c.3013G>C (p.Gly1005Arg) c.3079G>C (p.Gly1027Arg) c.3013G>C (p.Val1005Leu) c.3103G>C (p.Ala1035Pro) c.3088G>C (p.Ala1030Pro) c.3031G>C (p.Gly1011Arg) c.3016G>C (p.Val1006Leu) c.3031G>C (p.Ala1011Pro) c.2896G>C (p.Gly966Arg) c.2896-1G>C (n.2896-1G>C) | |
16 | g.28836122G>T | CA395409987 | ATXN2L | c.3085G>T (p.Gly1029Cys) c.3085G>T (p.Val1029Phe) c.3085G>T (p.Ala1029Ser) c.1060G>T (p.Gly354Cys) n.3459G>T c.280G>T (p.Ala94Ser) c.3103G>T (p.Gly1035Cys) c.2149G>T (n.2149G>T) c.354G>T c.1063G>T (p.Gly355Cys) c.3106G>T (p.Gly1036Cys) c.3088G>T (p.Gly1030Cys) c.3106G>T (p.Val1036Leu) c.3106G>T (p.Val1036Phe) c.3106G>T (p.Ala1036Ser) c.3103G>T (p.Val1035Phe) c.2926G>T (p.Gly976Cys) c.3034G>T (p.Gly1012Cys) c.3016G>T (p.Gly1006Cys) c.2740G>T (p.Gly914Cys) n.3315G>T c.2908G>T (p.Gly970Cys) c.2722G>T (p.Gly908Cys) n.3318G>T c.3103G>T (p.Val1035Leu) c.3088G>T (p.Val1030Leu) c.3085G>T (p.Val1029Leu) c.3013G>T (p.Gly1005Cys) c.3079G>T (p.Gly1027Cys) c.3013G>T (p.Val1005Leu) c.3103G>T (p.Ala1035Ser) c.3088G>T (p.Ala1030Ser) c.3088G>T (p.Val1030Phe) c.3031G>T (p.Gly1011Cys) c.3016G>T (p.Val1006Phe) c.3031G>T (p.Ala1011Ser) c.3013G>T (p.Val1005Phe) c.2896G>T (p.Gly966Cys) c.2896-1G>T (n.2896-1G>T) | gnomAD v4 |
16 | g.28836123G>A | CA395409988 | ATXN2L | c.3086G>A (p.Gly1029Asp) c.3085+1G>A (n.3085+1G>A) c.1061G>A (p.Gly354Asp) n.3460G>A c.280+1G>A (n.280+1G>A) c.3104G>A (p.Gly1035Asp) c.2150G>A (n.2150G>A) c.354+1G>A c.1064G>A (p.Gly355Asp) c.3107G>A (p.Gly1036Asp) c.3089G>A (p.Gly1030Asp) c.3106+1G>A (n.3106+1G>A) c.3103+1G>A (n.3103+1G>A) c.2927G>A (p.Gly976Asp) c.3035G>A (p.Gly1012Asp) c.3017G>A (p.Gly1006Asp) c.2741G>A (p.Gly914Asp) n.3316G>A c.2909G>A (p.Gly970Asp) c.2723G>A (p.Gly908Asp) n.3319G>A c.3088+1G>A (n.3088+1G>A) c.3014G>A (p.Gly1005Asp) c.3080G>A (p.Gly1027Asp) c.3013+1G>A (n.3013+1G>A) c.3032G>A (p.Gly1011Asp) c.3016+1G>A (n.3016+1G>A) c.3031+1G>A (n.3031+1G>A) c.2897G>A (p.Gly966Asp) c.2896G>A (p.Val966Met) | |
16 | g.28836123G>C | CA395409989 | ATXN2L | c.3086G>C (p.Gly1029Ala) c.3085+1G>C (n.3085+1G>C) c.1061G>C (p.Gly354Ala) n.3460G>C c.280+1G>C (n.280+1G>C) c.3104G>C (p.Gly1035Ala) c.2150G>C (n.2150G>C) c.354+1G>C c.1064G>C (p.Gly355Ala) c.3107G>C (p.Gly1036Ala) c.3089G>C (p.Gly1030Ala) c.3106+1G>C (n.3106+1G>C) c.3103+1G>C (n.3103+1G>C) c.2927G>C (p.Gly976Ala) c.3035G>C (p.Gly1012Ala) c.3017G>C (p.Gly1006Ala) c.2741G>C (p.Gly914Ala) n.3316G>C c.2909G>C (p.Gly970Ala) c.2723G>C (p.Gly908Ala) n.3319G>C c.3088+1G>C (n.3088+1G>C) c.3014G>C (p.Gly1005Ala) c.3080G>C (p.Gly1027Ala) c.3013+1G>C (n.3013+1G>C) c.3032G>C (p.Gly1011Ala) c.3016+1G>C (n.3016+1G>C) c.3031+1G>C (n.3031+1G>C) c.2897G>C (p.Gly966Ala) c.2896G>C (p.Val966Leu) | |
16 | g.28836123G>T | CA395409990 | ATXN2L | c.3086G>T (p.Gly1029Val) c.3085+1G>T (n.3085+1G>T) c.1061G>T (p.Gly354Val) n.3460G>T c.280+1G>T (n.280+1G>T) c.3104G>T (p.Gly1035Val) c.2150G>T (n.2150G>T) c.354+1G>T c.1064G>T (p.Gly355Val) c.3107G>T (p.Gly1036Val) c.3089G>T (p.Gly1030Val) c.3106+1G>T (n.3106+1G>T) c.3103+1G>T (n.3103+1G>T) c.2927G>T (p.Gly976Val) c.3035G>T (p.Gly1012Val) c.3017G>T (p.Gly1006Val) c.2741G>T (p.Gly914Val) n.3316G>T c.2909G>T (p.Gly970Val) c.2723G>T (p.Gly908Val) n.3319G>T c.3088+1G>T (n.3088+1G>T) c.3014G>T (p.Gly1005Val) c.3080G>T (p.Gly1027Val) c.3013+1G>T (n.3013+1G>T) c.3032G>T (p.Gly1011Val) c.3016+1G>T (n.3016+1G>T) c.3031+1G>T (n.3031+1G>T) c.2897G>T (p.Gly966Val) c.2896G>T (p.Val966Leu) | |
16 | g.28836124T>A | CA395409992 | ATXN2L | c.3087T>A (p.Gly1029=) c.3085+2T>A (n.3085+2T>A) c.1062T>A (p.Gly354=) n.3461T>A c.280+2T>A (n.280+2T>A) c.3105T>A (p.Gly1035=) c.2151T>A (n.2151T>A) c.354+2T>A c.1065T>A (p.Gly355=) c.3108T>A (p.Gly1036=) c.3090T>A (p.Gly1030=) c.3106+2T>A (n.3106+2T>A) c.3103+2T>A (n.3103+2T>A) c.2928T>A (p.Gly976=) c.3036T>A (p.Gly1012=) c.3018T>A (p.Gly1006=) c.2742T>A (p.Gly914=) n.3317T>A c.2910T>A (p.Gly970=) c.2724T>A (p.Gly908=) n.3320T>A c.3088+2T>A (n.3088+2T>A) c.3015T>A (p.Gly1005=) c.3081T>A (p.Gly1027=) c.3013+2T>A (n.3013+2T>A) c.3033T>A (p.Gly1011=) c.3016+2T>A (n.3016+2T>A) c.3031+2T>A (n.3031+2T>A) c.2898T>A (p.Gly966=) c.2897T>A (p.Val966Glu) | |
16 | g.28836124T>C | CA395409994 | ATXN2L | c.3087T>C (p.Gly1029=) c.3085+2T>C (n.3085+2T>C) c.1062T>C (p.Gly354=) n.3461T>C c.280+2T>C (n.280+2T>C) c.3105T>C (p.Gly1035=) c.2151T>C (n.2151T>C) c.354+2T>C c.1065T>C (p.Gly355=) c.3108T>C (p.Gly1036=) c.3090T>C (p.Gly1030=) c.3106+2T>C (n.3106+2T>C) c.3103+2T>C (n.3103+2T>C) c.2928T>C (p.Gly976=) c.3036T>C (p.Gly1012=) c.3018T>C (p.Gly1006=) c.2742T>C (p.Gly914=) n.3317T>C c.2910T>C (p.Gly970=) c.2724T>C (p.Gly908=) n.3320T>C c.3088+2T>C (n.3088+2T>C) c.3015T>C (p.Gly1005=) c.3081T>C (p.Gly1027=) c.3013+2T>C (n.3013+2T>C) c.3033T>C (p.Gly1011=) c.3016+2T>C (n.3016+2T>C) c.3031+2T>C (n.3031+2T>C) c.2898T>C (p.Gly966=) c.2897T>C (p.Val966Ala) | |
16 | g.28836124T>G | CA395409991 | ATXN2L | c.3087T>G (p.Gly1029=) c.3085+2T>G (n.3085+2T>G) c.1062T>G (p.Gly354=) n.3461T>G c.280+2T>G (n.280+2T>G) c.3105T>G (p.Gly1035=) c.2151T>G (n.2151T>G) c.354+2T>G c.1065T>G (p.Gly355=) c.3108T>G (p.Gly1036=) c.3090T>G (p.Gly1030=) c.3106+2T>G (n.3106+2T>G) c.3103+2T>G (n.3103+2T>G) c.2928T>G (p.Gly976=) c.3036T>G (p.Gly1012=) c.3018T>G (p.Gly1006=) c.2742T>G (p.Gly914=) n.3317T>G c.2910T>G (p.Gly970=) c.2724T>G (p.Gly908=) n.3320T>G c.3088+2T>G (n.3088+2T>G) c.3015T>G (p.Gly1005=) c.3081T>G (p.Gly1027=) c.3013+2T>G (n.3013+2T>G) c.3033T>G (p.Gly1011=) c.3016+2T>G (n.3016+2T>G) c.3031+2T>G (n.3031+2T>G) c.2898T>G (p.Gly966=) c.2897T>G (p.Val966Gly) | |
16 | g.28836125G>A | CA395409995 | ATXN2L | c.3088G>A (p.Glu1030Lys) c.3085+3G>A (n.3085+3G>A) c.1063G>A (p.Glu355Lys) n.3462G>A c.280+3G>A (n.280+3G>A) c.3106G>A (p.Glu1036Lys) c.2152G>A (n.2152G>A) c.354+3G>A c.1066G>A (p.Glu356Lys) c.3109G>A (p.Glu1037Lys) c.3091G>A (p.Glu1031Lys) c.3106+3G>A (n.3106+3G>A) c.3103+3G>A (n.3103+3G>A) c.2929G>A (p.Glu977Lys) c.3037G>A (p.Glu1013Lys) c.3019G>A (p.Glu1007Lys) c.2743G>A (p.Glu915Lys) n.3318G>A c.2911G>A (p.Glu971Lys) c.2725G>A (p.Glu909Lys) n.3321G>A c.3088+3G>A (n.3088+3G>A) c.3016G>A (p.Glu1006Lys) c.3082G>A (p.Glu1028Lys) c.3013+3G>A (n.3013+3G>A) c.3034G>A (p.Glu1012Lys) c.3016+3G>A (n.3016+3G>A) c.3031+3G>A (n.3031+3G>A) c.2899G>A (p.Glu967Lys) c.2898G>A (p.Val966=) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28836125G>C | CA395409996 | ATXN2L | c.3088G>C (p.Glu1030Gln) c.3085+3G>C (n.3085+3G>C) c.1063G>C (p.Glu355Gln) n.3462G>C c.280+3G>C (n.280+3G>C) c.3106G>C (p.Glu1036Gln) c.2152G>C (n.2152G>C) c.354+3G>C c.1066G>C (p.Glu356Gln) c.3109G>C (p.Glu1037Gln) c.3091G>C (p.Glu1031Gln) c.3106+3G>C (n.3106+3G>C) c.3103+3G>C (n.3103+3G>C) c.2929G>C (p.Glu977Gln) c.3037G>C (p.Glu1013Gln) c.3019G>C (p.Glu1007Gln) c.2743G>C (p.Glu915Gln) n.3318G>C c.2911G>C (p.Glu971Gln) c.2725G>C (p.Glu909Gln) n.3321G>C c.3088+3G>C (n.3088+3G>C) c.3016G>C (p.Glu1006Gln) c.3082G>C (p.Glu1028Gln) c.3013+3G>C (n.3013+3G>C) c.3034G>C (p.Glu1012Gln) c.3016+3G>C (n.3016+3G>C) c.3031+3G>C (n.3031+3G>C) c.2899G>C (p.Glu967Gln) c.2898G>C (p.Val966=) | |
16 | g.28836125G>T | CA395409998 | ATXN2L | c.3088G>T (p.Glu1030Ter) c.3085+3G>T (n.3085+3G>T) c.1063G>T (p.Glu355Ter) n.3462G>T c.280+3G>T (n.280+3G>T) c.3106G>T (p.Glu1036Ter) c.2152G>T (n.2152G>T) c.354+3G>T c.1066G>T (p.Glu356Ter) c.3109G>T (p.Glu1037Ter) c.3091G>T (p.Glu1031Ter) c.3106+3G>T (n.3106+3G>T) c.3103+3G>T (n.3103+3G>T) c.2929G>T (p.Glu977Ter) c.3037G>T (p.Glu1013Ter) c.3019G>T (p.Glu1007Ter) c.2743G>T (p.Glu915Ter) n.3318G>T c.2911G>T (p.Glu971Ter) c.2725G>T (p.Glu909Ter) n.3321G>T c.3088+3G>T (n.3088+3G>T) c.3016G>T (p.Glu1006Ter) c.3082G>T (p.Glu1028Ter) c.3013+3G>T (n.3013+3G>T) c.3034G>T (p.Glu1012Ter) c.3016+3G>T (n.3016+3G>T) c.3031+3G>T (n.3031+3G>T) c.2899G>T (p.Glu967Ter) c.2898G>T (p.Val966=) | |
16 | g.28836126A>C | CA395410001 | ATXN2L | c.3089A>C (p.Glu1030Ala) c.3085+4A>C (n.3085+4A>C) c.1064A>C (p.Glu355Ala) n.3463A>C c.280+4A>C (n.280+4A>C) c.3107A>C (p.Glu1036Ala) c.2153A>C (n.2153A>C) c.354+4A>C c.1067A>C (p.Glu356Ala) c.3110A>C (p.Glu1037Ala) c.3092A>C (p.Glu1031Ala) c.3106+4A>C (n.3106+4A>C) c.3103+4A>C (n.3103+4A>C) c.2930A>C (p.Glu977Ala) c.3038A>C (p.Glu1013Ala) c.3020A>C (p.Glu1007Ala) c.2744A>C (p.Glu915Ala) n.3319A>C c.2912A>C (p.Glu971Ala) c.2726A>C (p.Glu909Ala) n.3322A>C c.3088+4A>C (n.3088+4A>C) c.3017A>C (p.Glu1006Ala) c.3083A>C (p.Glu1028Ala) c.3013+4A>C (n.3013+4A>C) c.3035A>C (p.Glu1012Ala) c.3016+4A>C (n.3016+4A>C) c.3031+4A>C (n.3031+4A>C) c.2900A>C (p.Glu967Ala) c.2899A>C (p.Ser967Arg) | |
16 | g.28836126A>G | CA395410002 | ATXN2L | c.3089A>G (p.Glu1030Gly) c.3085+4A>G (n.3085+4A>G) c.1064A>G (p.Glu355Gly) n.3463A>G c.280+4A>G (n.280+4A>G) c.3107A>G (p.Glu1036Gly) c.2153A>G (n.2153A>G) c.354+4A>G c.1067A>G (p.Glu356Gly) c.3110A>G (p.Glu1037Gly) c.3092A>G (p.Glu1031Gly) c.3106+4A>G (n.3106+4A>G) c.3103+4A>G (n.3103+4A>G) c.2930A>G (p.Glu977Gly) c.3038A>G (p.Glu1013Gly) c.3020A>G (p.Glu1007Gly) c.2744A>G (p.Glu915Gly) n.3319A>G c.2912A>G (p.Glu971Gly) c.2726A>G (p.Glu909Gly) n.3322A>G c.3088+4A>G (n.3088+4A>G) c.3017A>G (p.Glu1006Gly) c.3083A>G (p.Glu1028Gly) c.3013+4A>G (n.3013+4A>G) c.3035A>G (p.Glu1012Gly) c.3016+4A>G (n.3016+4A>G) c.3031+4A>G (n.3031+4A>G) c.2900A>G (p.Glu967Gly) c.2899A>G (p.Ser967Gly) | |
16 | g.28836126A>T | CA395410004 | ATXN2L | c.3089A>T (p.Glu1030Val) c.3085+4A>T (n.3085+4A>T) c.1064A>T (p.Glu355Val) n.3463A>T c.280+4A>T (n.280+4A>T) c.3107A>T (p.Glu1036Val) c.2153A>T (n.2153A>T) c.354+4A>T c.1067A>T (p.Glu356Val) c.3110A>T (p.Glu1037Val) c.3092A>T (p.Glu1031Val) c.3106+4A>T (n.3106+4A>T) c.3103+4A>T (n.3103+4A>T) c.2930A>T (p.Glu977Val) c.3038A>T (p.Glu1013Val) c.3020A>T (p.Glu1007Val) c.2744A>T (p.Glu915Val) n.3319A>T c.2912A>T (p.Glu971Val) c.2726A>T (p.Glu909Val) n.3322A>T c.3088+4A>T (n.3088+4A>T) c.3017A>T (p.Glu1006Val) c.3083A>T (p.Glu1028Val) c.3013+4A>T (n.3013+4A>T) c.3035A>T (p.Glu1012Val) c.3016+4A>T (n.3016+4A>T) c.3031+4A>T (n.3031+4A>T) c.2900A>T (p.Glu967Val) c.2899A>T (p.Ser967Cys) | |
16 | g.28836127G>A | CA494868790 | ATXN2L | c.3090G>A (p.Glu1030=) c.3085+5G>A (n.3085+5G>A) c.1065G>A (p.Glu355=) n.3464G>A c.280+5G>A (n.280+5G>A) c.3108G>A (p.Glu1036=) c.2154G>A (n.2154G>A) c.354+5G>A c.1068G>A (p.Glu356=) c.3111G>A (p.Glu1037=) c.3093G>A (p.Glu1031=) c.3106+5G>A (n.3106+5G>A) c.3103+5G>A (n.3103+5G>A) c.2931G>A (p.Glu977=) c.3039G>A (p.Glu1013=) c.3021G>A (p.Glu1007=) c.2745G>A (p.Glu915=) n.3320G>A c.2913G>A (p.Glu971=) c.2727G>A (p.Glu909=) n.3323G>A c.3088+5G>A (n.3088+5G>A) c.3018G>A (p.Glu1006=) c.3084G>A (p.Glu1028=) c.3013+5G>A (n.3013+5G>A) c.3036G>A (p.Glu1012=) c.3016+5G>A (n.3016+5G>A) c.3031+5G>A (n.3031+5G>A) c.2901G>A (p.Glu967=) c.2900G>A (p.Ser967Asn) | |
16 | g.28836127G>C | CA395410006 | ATXN2L | c.3090G>C (p.Glu1030Asp) c.3085+5G>C (n.3085+5G>C) c.1065G>C (p.Glu355Asp) n.3464G>C c.280+5G>C (n.280+5G>C) c.3108G>C (p.Glu1036Asp) c.2154G>C (n.2154G>C) c.354+5G>C c.1068G>C (p.Glu356Asp) c.3111G>C (p.Glu1037Asp) c.3093G>C (p.Glu1031Asp) c.3106+5G>C (n.3106+5G>C) c.3103+5G>C (n.3103+5G>C) c.2931G>C (p.Glu977Asp) c.3039G>C (p.Glu1013Asp) c.3021G>C (p.Glu1007Asp) c.2745G>C (p.Glu915Asp) n.3320G>C c.2913G>C (p.Glu971Asp) c.2727G>C (p.Glu909Asp) n.3323G>C c.3088+5G>C (n.3088+5G>C) c.3018G>C (p.Glu1006Asp) c.3084G>C (p.Glu1028Asp) c.3013+5G>C (n.3013+5G>C) c.3036G>C (p.Glu1012Asp) c.3016+5G>C (n.3016+5G>C) c.3031+5G>C (n.3031+5G>C) c.2901G>C (p.Glu967Asp) c.2900G>C (p.Ser967Thr) | |
16 | g.28836127G>T | CA395410015 | ATXN2L | c.3090G>T (p.Glu1030Asp) c.3085+5G>T (n.3085+5G>T) c.1065G>T (p.Glu355Asp) n.3464G>T c.280+5G>T (n.280+5G>T) c.3108G>T (p.Glu1036Asp) c.2154G>T (n.2154G>T) c.354+5G>T c.1068G>T (p.Glu356Asp) c.3111G>T (p.Glu1037Asp) c.3093G>T (p.Glu1031Asp) c.3106+5G>T (n.3106+5G>T) c.3103+5G>T (n.3103+5G>T) c.2931G>T (p.Glu977Asp) c.3039G>T (p.Glu1013Asp) c.3021G>T (p.Glu1007Asp) c.2745G>T (p.Glu915Asp) n.3320G>T c.2913G>T (p.Glu971Asp) c.2727G>T (p.Glu909Asp) n.3323G>T c.3088+5G>T (n.3088+5G>T) c.3018G>T (p.Glu1006Asp) c.3084G>T (p.Glu1028Asp) c.3013+5G>T (n.3013+5G>T) c.3036G>T (p.Glu1012Asp) c.3016+5G>T (n.3016+5G>T) c.3031+5G>T (n.3031+5G>T) c.2901G>T (p.Glu967Asp) c.2900G>T (p.Ser967Ile) | |
16 | g.28836128C>A | CA395410017 | ATXN2L | c.3091C>A (p.Gln1031Lys) c.3085+6C>A (n.3085+6C>A) c.1066C>A (p.Gln356Lys) n.3465C>A c.280+6C>A (n.280+6C>A) c.3109C>A (p.Gln1037Lys) c.2155C>A (n.2155C>A) c.354+6C>A c.1069C>A (p.Gln357Lys) c.3112C>A (p.Gln1038Lys) c.3094C>A (p.Gln1032Lys) c.3106+6C>A (n.3106+6C>A) c.3103+6C>A (n.3103+6C>A) c.2932C>A (p.Gln978Lys) c.3040C>A (p.Gln1014Lys) c.3022C>A (p.Gln1008Lys) c.2746C>A (p.Gln916Lys) n.3321C>A c.2914C>A (p.Gln972Lys) c.2728C>A (p.Gln910Lys) n.3324C>A c.3088+6C>A (n.3088+6C>A) c.3019C>A (p.Gln1007Lys) c.3085C>A (p.Gln1029Lys) c.3013+6C>A (n.3013+6C>A) c.3037C>A (p.Gln1013Lys) c.3016+6C>A (n.3016+6C>A) c.3031+6C>A (n.3031+6C>A) c.2902C>A (p.Gln968Lys) c.2901C>A (p.Ser967Arg) | |
16 | g.28836128C>G | CA395410019 | ATXN2L | c.3091C>G (p.Gln1031Glu) c.3085+6C>G (n.3085+6C>G) c.1066C>G (p.Gln356Glu) n.3465C>G c.280+6C>G (n.280+6C>G) c.3109C>G (p.Gln1037Glu) c.2155C>G (n.2155C>G) c.354+6C>G c.1069C>G (p.Gln357Glu) c.3112C>G (p.Gln1038Glu) c.3094C>G (p.Gln1032Glu) c.3106+6C>G (n.3106+6C>G) c.3103+6C>G (n.3103+6C>G) c.2932C>G (p.Gln978Glu) c.3040C>G (p.Gln1014Glu) c.3022C>G (p.Gln1008Glu) c.2746C>G (p.Gln916Glu) n.3321C>G c.2914C>G (p.Gln972Glu) c.2728C>G (p.Gln910Glu) n.3324C>G c.3088+6C>G (n.3088+6C>G) c.3019C>G (p.Gln1007Glu) c.3085C>G (p.Gln1029Glu) c.3013+6C>G (n.3013+6C>G) c.3037C>G (p.Gln1013Glu) c.3016+6C>G (n.3016+6C>G) c.3031+6C>G (n.3031+6C>G) c.2902C>G (p.Gln968Glu) c.2901C>G (p.Ser967Arg) | |
16 | g.28836128C>T | CA395410021 | ATXN2L | c.3091C>T (p.Gln1031Ter) c.3085+6C>T (n.3085+6C>T) c.1066C>T (p.Gln356Ter) n.3465C>T c.280+6C>T (n.280+6C>T) c.3109C>T (p.Gln1037Ter) c.2155C>T (n.2155C>T) c.354+6C>T c.1069C>T (p.Gln357Ter) c.3112C>T (p.Gln1038Ter) c.3094C>T (p.Gln1032Ter) c.3106+6C>T (n.3106+6C>T) c.3103+6C>T (n.3103+6C>T) c.2932C>T (p.Gln978Ter) c.3040C>T (p.Gln1014Ter) c.3022C>T (p.Gln1008Ter) c.2746C>T (p.Gln916Ter) n.3321C>T c.2914C>T (p.Gln972Ter) c.2728C>T (p.Gln910Ter) n.3324C>T c.3088+6C>T (n.3088+6C>T) c.3019C>T (p.Gln1007Ter) c.3085C>T (p.Gln1029Ter) c.3013+6C>T (n.3013+6C>T) c.3037C>T (p.Gln1013Ter) c.3016+6C>T (n.3016+6C>T) c.3031+6C>T (n.3031+6C>T) c.2902C>T (p.Gln968Ter) c.2901C>T (p.Ser967=) | |
16 | g.28836129A>C | CA395410023 | ATXN2L | c.3092A>C (p.Gln1031Pro) c.3085+7A>C (n.3085+7A>C) c.1067A>C (p.Gln356Pro) n.3466A>C c.280+7A>C (n.280+7A>C) c.3110A>C (p.Gln1037Pro) c.2156A>C (n.2156A>C) c.354+7A>C c.1070A>C (p.Gln357Pro) c.3113A>C (p.Gln1038Pro) c.3095A>C (p.Gln1032Pro) c.3106+7A>C (n.3106+7A>C) c.3103+7A>C (n.3103+7A>C) c.2933A>C (p.Gln978Pro) c.3041A>C (p.Gln1014Pro) c.3023A>C (p.Gln1008Pro) c.2747A>C (p.Gln916Pro) n.3322A>C c.2915A>C (p.Gln972Pro) c.2729A>C (p.Gln910Pro) n.3325A>C c.3088+7A>C (n.3088+7A>C) c.3020A>C (p.Gln1007Pro) c.3086A>C (p.Gln1029Pro) c.3013+7A>C (n.3013+7A>C) c.3038A>C (p.Gln1013Pro) c.3016+7A>C (n.3016+7A>C) c.3031+7A>C (n.3031+7A>C) c.2903A>C (p.Gln968Pro) c.2902A>C (p.Ser968Arg) | gnomAD v4 |
16 | g.28836129A>G | CA395410025 | ATXN2L | c.3092A>G (p.Gln1031Arg) c.3085+7A>G (n.3085+7A>G) c.1067A>G (p.Gln356Arg) n.3466A>G c.280+7A>G (n.280+7A>G) c.3110A>G (p.Gln1037Arg) c.2156A>G (n.2156A>G) c.354+7A>G c.1070A>G (p.Gln357Arg) c.3113A>G (p.Gln1038Arg) c.3095A>G (p.Gln1032Arg) c.3106+7A>G (n.3106+7A>G) c.3103+7A>G (n.3103+7A>G) c.2933A>G (p.Gln978Arg) c.3041A>G (p.Gln1014Arg) c.3023A>G (p.Gln1008Arg) c.2747A>G (p.Gln916Arg) n.3322A>G c.2915A>G (p.Gln972Arg) c.2729A>G (p.Gln910Arg) n.3325A>G c.3088+7A>G (n.3088+7A>G) c.3020A>G (p.Gln1007Arg) c.3086A>G (p.Gln1029Arg) c.3013+7A>G (n.3013+7A>G) c.3038A>G (p.Gln1013Arg) c.3016+7A>G (n.3016+7A>G) c.3031+7A>G (n.3031+7A>G) c.2903A>G (p.Gln968Arg) c.2902A>G (p.Ser968Gly) | |
16 | g.28836129A>T | CA395410027 | ATXN2L | c.3092A>T (p.Gln1031Leu) c.3085+7A>T (n.3085+7A>T) c.1067A>T (p.Gln356Leu) n.3466A>T c.280+7A>T (n.280+7A>T) c.3110A>T (p.Gln1037Leu) c.2156A>T (n.2156A>T) c.354+7A>T c.1070A>T (p.Gln357Leu) c.3113A>T (p.Gln1038Leu) c.3095A>T (p.Gln1032Leu) c.3106+7A>T (n.3106+7A>T) c.3103+7A>T (n.3103+7A>T) c.2933A>T (p.Gln978Leu) c.3041A>T (p.Gln1014Leu) c.3023A>T (p.Gln1008Leu) c.2747A>T (p.Gln916Leu) n.3322A>T c.2915A>T (p.Gln972Leu) c.2729A>T (p.Gln910Leu) n.3325A>T c.3088+7A>T (n.3088+7A>T) c.3020A>T (p.Gln1007Leu) c.3086A>T (p.Gln1029Leu) c.3013+7A>T (n.3013+7A>T) c.3038A>T (p.Gln1013Leu) c.3016+7A>T (n.3016+7A>T) c.3031+7A>T (n.3031+7A>T) c.2903A>T (p.Gln968Leu) c.2902A>T (p.Ser968Cys) | |
16 | g.28836130G>A | CA7985174 | ATXN2L | c.3093G>A (p.Gln1031=) c.3085+8G>A (n.3085+8G>A) c.1068G>A (p.Gln356=) n.3467G>A c.280+8G>A (n.280+8G>A) c.3111G>A (p.Gln1037=) c.2157G>A (n.2157G>A) c.354+8G>A c.1071G>A (p.Gln357=) c.3114G>A (p.Gln1038=) c.3096G>A (p.Gln1032=) c.3106+8G>A (n.3106+8G>A) c.3103+8G>A (n.3103+8G>A) c.2934G>A (p.Gln978=) c.3042G>A (p.Gln1014=) c.3024G>A (p.Gln1008=) c.2748G>A (p.Gln916=) n.3323G>A c.2916G>A (p.Gln972=) c.2730G>A (p.Gln910=) n.3326G>A c.3088+8G>A (n.3088+8G>A) c.3021G>A (p.Gln1007=) c.3087G>A (p.Gln1029=) c.3013+8G>A (n.3013+8G>A) c.3039G>A (p.Gln1013=) c.3016+8G>A (n.3016+8G>A) c.3031+8G>A (n.3031+8G>A) c.2904G>A (p.Gln968=) c.2903G>A (p.Ser968Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836130G>C | CA395410031 | ATXN2L | c.3093G>C (p.Gln1031His) c.3085+8G>C (n.3085+8G>C) c.1068G>C (p.Gln356His) n.3467G>C c.280+8G>C (n.280+8G>C) c.3111G>C (p.Gln1037His) c.2157G>C (n.2157G>C) c.354+8G>C c.1071G>C (p.Gln357His) c.3114G>C (p.Gln1038His) c.3096G>C (p.Gln1032His) c.3106+8G>C (n.3106+8G>C) c.3103+8G>C (n.3103+8G>C) c.2934G>C (p.Gln978His) c.3042G>C (p.Gln1014His) c.3024G>C (p.Gln1008His) c.2748G>C (p.Gln916His) n.3323G>C c.2916G>C (p.Gln972His) c.2730G>C (p.Gln910His) n.3326G>C c.3088+8G>C (n.3088+8G>C) c.3021G>C (p.Gln1007His) c.3087G>C (p.Gln1029His) c.3013+8G>C (n.3013+8G>C) c.3039G>C (p.Gln1013His) c.3016+8G>C (n.3016+8G>C) c.3031+8G>C (n.3031+8G>C) c.2904G>C (p.Gln968His) c.2903G>C (p.Ser968Thr) | |
16 | g.28836130G= | CA2215806983 | ATXN2L | c.3093G= (p.Gln1031=) c.3085+8G= (n.3085+8G=) c.1068G= (p.Gln356=) n.3467G= c.280+8G= (n.280+8G=) c.3111G= (p.Gln1037=) c.2157G= (n.2157G=) c.354+8G= c.1071G= (p.Gln357=) c.3114G= (p.Gln1038=) c.3096G= (p.Gln1032=) c.3106+8G= (n.3106+8G=) c.3103+8G= (n.3103+8G=) c.2934G= (p.Gln978=) c.3042G= (p.Gln1014=) c.3024G= (p.Gln1008=) c.2748G= (p.Gln916=) n.3323G= c.2916G= (p.Gln972=) c.2730G= (p.Gln910=) n.3326G= c.3088+8G= (n.3088+8G=) c.3021G= (p.Gln1007=) c.3087G= (p.Gln1029=) c.3013+8G= (n.3013+8G=) c.3039G= (p.Gln1013=) c.3016+8G= (n.3016+8G=) c.3031+8G= (n.3031+8G=) c.2904G= (p.Gln968=) c.2903G= (p.Ser968=) | |
16 | g.28836130G>T | CA395410029 | ATXN2L | c.3093G>T (p.Gln1031His) c.3085+8G>T (n.3085+8G>T) c.1068G>T (p.Gln356His) n.3467G>T c.280+8G>T (n.280+8G>T) c.3111G>T (p.Gln1037His) c.2157G>T (n.2157G>T) c.354+8G>T c.1071G>T (p.Gln357His) c.3114G>T (p.Gln1038His) c.3096G>T (p.Gln1032His) c.3106+8G>T (n.3106+8G>T) c.3103+8G>T (n.3103+8G>T) c.2934G>T (p.Gln978His) c.3042G>T (p.Gln1014His) c.3024G>T (p.Gln1008His) c.2748G>T (p.Gln916His) n.3323G>T c.2916G>T (p.Gln972His) c.2730G>T (p.Gln910His) n.3326G>T c.3088+8G>T (n.3088+8G>T) c.3021G>T (p.Gln1007His) c.3087G>T (p.Gln1029His) c.3013+8G>T (n.3013+8G>T) c.3039G>T (p.Gln1013His) c.3016+8G>T (n.3016+8G>T) c.3031+8G>T (n.3031+8G>T) c.2904G>T (p.Gln968His) c.2903G>T (p.Ser968Ile) | |
16 | g.28836131C>A | CA395410033 | ATXN2L | c.3094C>A (p.Pro1032Thr) c.3085+9C>A (n.3085+9C>A) c.1069C>A (p.Pro357Thr) n.3468C>A c.280+9C>A (n.280+9C>A) c.3112C>A (p.Pro1038Thr) c.2158C>A (n.2158C>A) c.354+9C>A c.1072C>A (p.Pro358Thr) c.3115C>A (p.Pro1039Thr) c.3097C>A (p.Pro1033Thr) c.3106+9C>A (n.3106+9C>A) c.3103+9C>A (n.3103+9C>A) c.2935C>A (p.Pro979Thr) c.3043C>A (p.Pro1015Thr) c.3025C>A (p.Pro1009Thr) c.2749C>A (p.Pro917Thr) n.3324C>A c.2917C>A (p.Pro973Thr) c.2731C>A (p.Pro911Thr) n.3327C>A c.3088+9C>A (n.3088+9C>A) c.3022C>A (p.Pro1008Thr) c.3088C>A (p.Pro1030Thr) c.3013+9C>A (n.3013+9C>A) c.3040C>A (p.Pro1014Thr) c.3016+9C>A (n.3016+9C>A) c.3031+9C>A (n.3031+9C>A) c.2905C>A (p.Pro969Thr) c.2904C>A (p.Ser968Arg) | |
16 | g.28836131C>G | CA395410035 | ATXN2L | c.3094C>G (p.Pro1032Ala) c.3085+9C>G (n.3085+9C>G) c.1069C>G (p.Pro357Ala) n.3468C>G c.280+9C>G (n.280+9C>G) c.3112C>G (p.Pro1038Ala) c.2158C>G (n.2158C>G) c.354+9C>G c.1072C>G (p.Pro358Ala) c.3115C>G (p.Pro1039Ala) c.3097C>G (p.Pro1033Ala) c.3106+9C>G (n.3106+9C>G) c.3103+9C>G (n.3103+9C>G) c.2935C>G (p.Pro979Ala) c.3043C>G (p.Pro1015Ala) c.3025C>G (p.Pro1009Ala) c.2749C>G (p.Pro917Ala) n.3324C>G c.2917C>G (p.Pro973Ala) c.2731C>G (p.Pro911Ala) n.3327C>G c.3088+9C>G (n.3088+9C>G) c.3022C>G (p.Pro1008Ala) c.3088C>G (p.Pro1030Ala) c.3013+9C>G (n.3013+9C>G) c.3040C>G (p.Pro1014Ala) c.3016+9C>G (n.3016+9C>G) c.3031+9C>G (n.3031+9C>G) c.2905C>G (p.Pro969Ala) c.2904C>G (p.Ser968Arg) | |
16 | g.28836131C>T | CA395410037 | ATXN2L | c.3094C>T (p.Pro1032Ser) c.3085+9C>T (n.3085+9C>T) c.1069C>T (p.Pro357Ser) n.3468C>T c.280+9C>T (n.280+9C>T) c.3112C>T (p.Pro1038Ser) c.2158C>T (n.2158C>T) c.354+9C>T c.1072C>T (p.Pro358Ser) c.3115C>T (p.Pro1039Ser) c.3097C>T (p.Pro1033Ser) c.3106+9C>T (n.3106+9C>T) c.3103+9C>T (n.3103+9C>T) c.2935C>T (p.Pro979Ser) c.3043C>T (p.Pro1015Ser) c.3025C>T (p.Pro1009Ser) c.2749C>T (p.Pro917Ser) n.3324C>T c.2917C>T (p.Pro973Ser) c.2731C>T (p.Pro911Ser) n.3327C>T c.3088+9C>T (n.3088+9C>T) c.3022C>T (p.Pro1008Ser) c.3088C>T (p.Pro1030Ser) c.3013+9C>T (n.3013+9C>T) c.3040C>T (p.Pro1014Ser) c.3016+9C>T (n.3016+9C>T) c.3031+9C>T (n.3031+9C>T) c.2905C>T (p.Pro969Ser) c.2904C>T (p.Ser968=) | |
16 | g.28836132C>A | CA395410039 | ATXN2L | c.3095C>A (p.Pro1032His) c.3085+10C>A (n.3085+10C>A) c.1070C>A (p.Pro357His) n.3469C>A c.280+10C>A (n.280+10C>A) c.3113C>A (p.Pro1038His) c.2159C>A (n.2159C>A) c.354+10C>A c.1073C>A (p.Pro358His) c.3116C>A (p.Pro1039His) c.3098C>A (p.Pro1033His) c.3106+10C>A (n.3106+10C>A) c.3103+10C>A (n.3103+10C>A) c.2936C>A (p.Pro979His) c.3044C>A (p.Pro1015His) c.3026C>A (p.Pro1009His) c.2750C>A (p.Pro917His) n.3325C>A c.2918C>A (p.Pro973His) c.2732C>A (p.Pro911His) n.3328C>A c.3088+10C>A (n.3088+10C>A) c.3023C>A (p.Pro1008His) c.3089C>A (p.Pro1030His) c.3013+10C>A (n.3013+10C>A) c.3041C>A (p.Pro1014His) c.3016+10C>A (n.3016+10C>A) c.3031+10C>A (n.3031+10C>A) c.2906C>A (p.Pro969His) c.2905C>A (p.Leu969Met) | |
16 | g.28836132C>G | CA395410040 | ATXN2L | c.3095C>G (p.Pro1032Arg) c.3085+10C>G (n.3085+10C>G) c.1070C>G (p.Pro357Arg) n.3469C>G c.280+10C>G (n.280+10C>G) c.3113C>G (p.Pro1038Arg) c.2159C>G (n.2159C>G) c.354+10C>G c.1073C>G (p.Pro358Arg) c.3116C>G (p.Pro1039Arg) c.3098C>G (p.Pro1033Arg) c.3106+10C>G (n.3106+10C>G) c.3103+10C>G (n.3103+10C>G) c.2936C>G (p.Pro979Arg) c.3044C>G (p.Pro1015Arg) c.3026C>G (p.Pro1009Arg) c.2750C>G (p.Pro917Arg) n.3325C>G c.2918C>G (p.Pro973Arg) c.2732C>G (p.Pro911Arg) n.3328C>G c.3088+10C>G (n.3088+10C>G) c.3023C>G (p.Pro1008Arg) c.3089C>G (p.Pro1030Arg) c.3013+10C>G (n.3013+10C>G) c.3041C>G (p.Pro1014Arg) c.3016+10C>G (n.3016+10C>G) c.3031+10C>G (n.3031+10C>G) c.2906C>G (p.Pro969Arg) c.2905C>G (p.Leu969Val) | |
16 | g.28836132C>T | CA395410042 | ATXN2L | c.3095C>T (p.Pro1032Leu) c.3085+10C>T (n.3085+10C>T) c.1070C>T (p.Pro357Leu) n.3469C>T c.280+10C>T (n.280+10C>T) c.3113C>T (p.Pro1038Leu) c.2159C>T (n.2159C>T) c.354+10C>T c.1073C>T (p.Pro358Leu) c.3116C>T (p.Pro1039Leu) c.3098C>T (p.Pro1033Leu) c.3106+10C>T (n.3106+10C>T) c.3103+10C>T (n.3103+10C>T) c.2936C>T (p.Pro979Leu) c.3044C>T (p.Pro1015Leu) c.3026C>T (p.Pro1009Leu) c.2750C>T (p.Pro917Leu) n.3325C>T c.2918C>T (p.Pro973Leu) c.2732C>T (p.Pro911Leu) n.3328C>T c.3088+10C>T (n.3088+10C>T) c.3023C>T (p.Pro1008Leu) c.3089C>T (p.Pro1030Leu) c.3013+10C>T (n.3013+10C>T) c.3041C>T (p.Pro1014Leu) c.3016+10C>T (n.3016+10C>T) c.3031+10C>T (n.3031+10C>T) c.2906C>T (p.Pro969Leu) c.2905C>T (p.Leu969=) | |
16 | g.28836133T>A | CA494868861 | ATXN2L | c.3096T>A (p.Pro1032=) c.3085+11T>A (n.3085+11T>A) c.1071T>A (p.Pro357=) n.3470T>A c.280+11T>A (n.280+11T>A) c.3114T>A (p.Pro1038=) c.2160T>A (n.2160T>A) c.354+11T>A c.1074T>A (p.Pro358=) c.3117T>A (p.Pro1039=) c.3099T>A (p.Pro1033=) c.3106+11T>A (n.3106+11T>A) c.3103+11T>A (n.3103+11T>A) c.2937T>A (p.Pro979=) c.3045T>A (p.Pro1015=) c.3027T>A (p.Pro1009=) c.2751T>A (p.Pro917=) n.3326T>A c.2919T>A (p.Pro973=) c.2733T>A (p.Pro911=) n.3329T>A c.3088+11T>A (n.3088+11T>A) c.3024T>A (p.Pro1008=) c.3090T>A (p.Pro1030=) c.3013+11T>A (n.3013+11T>A) c.3042T>A (p.Pro1014=) c.3016+11T>A (n.3016+11T>A) c.3031+11T>A (n.3031+11T>A) c.2907T>A (p.Pro969=) c.2906T>A (p.Leu969Gln) | |
16 | g.28836133T>C | CA494868864 | ATXN2L | c.3096T>C (p.Pro1032=) c.3085+11T>C (n.3085+11T>C) c.1071T>C (p.Pro357=) n.3470T>C c.280+11T>C (n.280+11T>C) c.3114T>C (p.Pro1038=) c.2160T>C (n.2160T>C) c.354+11T>C c.1074T>C (p.Pro358=) c.3117T>C (p.Pro1039=) c.3099T>C (p.Pro1033=) c.3106+11T>C (n.3106+11T>C) c.3103+11T>C (n.3103+11T>C) c.2937T>C (p.Pro979=) c.3045T>C (p.Pro1015=) c.3027T>C (p.Pro1009=) c.2751T>C (p.Pro917=) n.3326T>C c.2919T>C (p.Pro973=) c.2733T>C (p.Pro911=) n.3329T>C c.3088+11T>C (n.3088+11T>C) c.3024T>C (p.Pro1008=) c.3090T>C (p.Pro1030=) c.3013+11T>C (n.3013+11T>C) c.3042T>C (p.Pro1014=) c.3016+11T>C (n.3016+11T>C) c.3031+11T>C (n.3031+11T>C) c.2907T>C (p.Pro969=) c.2906T>C (p.Leu969Pro) | gnomAD v4 |
16 | g.28836133T>G | CA494868868 | ATXN2L | c.3096T>G (p.Pro1032=) c.3085+11T>G (n.3085+11T>G) c.1071T>G (p.Pro357=) n.3470T>G c.280+11T>G (n.280+11T>G) c.3114T>G (p.Pro1038=) c.2160T>G (n.2160T>G) c.354+11T>G c.1074T>G (p.Pro358=) c.3117T>G (p.Pro1039=) c.3099T>G (p.Pro1033=) c.3106+11T>G (n.3106+11T>G) c.3103+11T>G (n.3103+11T>G) c.2937T>G (p.Pro979=) c.3045T>G (p.Pro1015=) c.3027T>G (p.Pro1009=) c.2751T>G (p.Pro917=) n.3326T>G c.2919T>G (p.Pro973=) c.2733T>G (p.Pro911=) n.3329T>G c.3088+11T>G (n.3088+11T>G) c.3024T>G (p.Pro1008=) c.3090T>G (p.Pro1030=) c.3013+11T>G (n.3013+11T>G) c.3042T>G (p.Pro1014=) c.3016+11T>G (n.3016+11T>G) c.3031+11T>G (n.3031+11T>G) c.2907T>G (p.Pro969=) c.2906T>G (p.Leu969Arg) | dbSNP |
16 | g.28836133T= | CA2215806988 | ATXN2L | c.3096T= (p.Pro1032=) c.3085+11T= (n.3085+11T=) c.1071T= (p.Pro357=) n.3470T= c.280+11T= (n.280+11T=) c.3114T= (p.Pro1038=) c.2160T= (n.2160T=) c.354+11T= c.1074T= (p.Pro358=) c.3117T= (p.Pro1039=) c.3099T= (p.Pro1033=) c.3106+11T= (n.3106+11T=) c.3103+11T= (n.3103+11T=) c.2937T= (p.Pro979=) c.3045T= (p.Pro1015=) c.3027T= (p.Pro1009=) c.2751T= (p.Pro917=) n.3326T= c.2919T= (p.Pro973=) c.2733T= (p.Pro911=) n.3329T= c.3088+11T= (n.3088+11T=) c.3024T= (p.Pro1008=) c.3090T= (p.Pro1030=) c.3013+11T= (n.3013+11T=) c.3042T= (p.Pro1014=) c.3016+11T= (n.3016+11T=) c.3031+11T= (n.3031+11T=) c.2907T= (p.Pro969=) c.2906T= (p.Leu969=) | |
16 | g.28836134G>A | CA395410044 | ATXN2L | c.3097G>A (p.Gly1033Ser) c.3085+12G>A (n.3085+12G>A) c.1072G>A (p.Gly358Ser) n.3471G>A c.280+12G>A (n.280+12G>A) c.3115G>A (p.Gly1039Ser) c.2161G>A (n.2161G>A) c.354+12G>A c.1075G>A (p.Gly359Ser) c.3118G>A (p.Gly1040Ser) c.3100G>A (p.Gly1034Ser) c.3106+12G>A (n.3106+12G>A) c.3103+12G>A (n.3103+12G>A) c.2938G>A (p.Gly980Ser) c.3046G>A (p.Gly1016Ser) c.3028G>A (p.Gly1010Ser) c.2752G>A (p.Gly918Ser) n.3327G>A c.2920G>A (p.Gly974Ser) c.2734G>A (p.Gly912Ser) n.3330G>A c.3088+12G>A (n.3088+12G>A) c.3025G>A (p.Gly1009Ser) c.3091G>A (p.Gly1031Ser) c.3013+12G>A (n.3013+12G>A) c.3043G>A (p.Gly1015Ser) c.3016+12G>A (n.3016+12G>A) c.3031+12G>A (n.3031+12G>A) c.2908G>A (p.Gly970Ser) c.2907G>A (p.Leu969=) | |
16 | g.28836134G>C | CA395410046 | ATXN2L | c.3097G>C (p.Gly1033Arg) c.3085+12G>C (n.3085+12G>C) c.1072G>C (p.Gly358Arg) n.3471G>C c.280+12G>C (n.280+12G>C) c.3115G>C (p.Gly1039Arg) c.2161G>C (n.2161G>C) c.354+12G>C c.1075G>C (p.Gly359Arg) c.3118G>C (p.Gly1040Arg) c.3100G>C (p.Gly1034Arg) c.3106+12G>C (n.3106+12G>C) c.3103+12G>C (n.3103+12G>C) c.2938G>C (p.Gly980Arg) c.3046G>C (p.Gly1016Arg) c.3028G>C (p.Gly1010Arg) c.2752G>C (p.Gly918Arg) n.3327G>C c.2920G>C (p.Gly974Arg) c.2734G>C (p.Gly912Arg) n.3330G>C c.3088+12G>C (n.3088+12G>C) c.3025G>C (p.Gly1009Arg) c.3091G>C (p.Gly1031Arg) c.3013+12G>C (n.3013+12G>C) c.3043G>C (p.Gly1015Arg) c.3016+12G>C (n.3016+12G>C) c.3031+12G>C (n.3031+12G>C) c.2908G>C (p.Gly970Arg) c.2907G>C (p.Leu969=) | |
16 | g.28836134G>T | CA395410048 | ATXN2L | c.3097G>T (p.Gly1033Cys) c.3085+12G>T (n.3085+12G>T) c.1072G>T (p.Gly358Cys) n.3471G>T c.280+12G>T (n.280+12G>T) c.3115G>T (p.Gly1039Cys) c.2161G>T (n.2161G>T) c.354+12G>T c.1075G>T (p.Gly359Cys) c.3118G>T (p.Gly1040Cys) c.3100G>T (p.Gly1034Cys) c.3106+12G>T (n.3106+12G>T) c.3103+12G>T (n.3103+12G>T) c.2938G>T (p.Gly980Cys) c.3046G>T (p.Gly1016Cys) c.3028G>T (p.Gly1010Cys) c.2752G>T (p.Gly918Cys) n.3327G>T c.2920G>T (p.Gly974Cys) c.2734G>T (p.Gly912Cys) n.3330G>T c.3088+12G>T (n.3088+12G>T) c.3025G>T (p.Gly1009Cys) c.3091G>T (p.Gly1031Cys) c.3013+12G>T (n.3013+12G>T) c.3043G>T (p.Gly1015Cys) c.3016+12G>T (n.3016+12G>T) c.3031+12G>T (n.3031+12G>T) c.2908G>T (p.Gly970Cys) c.2907G>T (p.Leu969=) | |
16 | g.28836135G>A | CA7985176 | ATXN2L | c.3098G>A (p.Gly1033Asp) c.3085+13G>A (n.3085+13G>A) c.1073G>A (p.Gly358Asp) n.3472G>A c.280+13G>A (n.280+13G>A) c.3116G>A (p.Gly1039Asp) c.2162G>A (n.2162G>A) c.354+13G>A c.1076G>A (p.Gly359Asp) c.3119G>A (p.Gly1040Asp) c.3101G>A (p.Gly1034Asp) c.3106+13G>A (n.3106+13G>A) c.3103+13G>A (n.3103+13G>A) c.2939G>A (p.Gly980Asp) c.3047G>A (p.Gly1016Asp) c.3029G>A (p.Gly1010Asp) c.2753G>A (p.Gly918Asp) n.3328G>A c.2921G>A (p.Gly974Asp) c.2735G>A (p.Gly912Asp) n.3331G>A c.3088+13G>A (n.3088+13G>A) c.3026G>A (p.Gly1009Asp) c.3092G>A (p.Gly1031Asp) c.3013+13G>A (n.3013+13G>A) c.3044G>A (p.Gly1015Asp) c.3016+13G>A (n.3016+13G>A) c.3031+13G>A (n.3031+13G>A) c.2909G>A (p.Gly970Asp) c.2908G>A (p.Ala970Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836135G>C | CA7985175 | ATXN2L | c.3098G>C (p.Gly1033Ala) c.3085+13G>C (n.3085+13G>C) c.1073G>C (p.Gly358Ala) n.3472G>C c.280+13G>C (n.280+13G>C) c.3116G>C (p.Gly1039Ala) c.2162G>C (n.2162G>C) c.354+13G>C c.1076G>C (p.Gly359Ala) c.3119G>C (p.Gly1040Ala) c.3101G>C (p.Gly1034Ala) c.3106+13G>C (n.3106+13G>C) c.3103+13G>C (n.3103+13G>C) c.2939G>C (p.Gly980Ala) c.3047G>C (p.Gly1016Ala) c.3029G>C (p.Gly1010Ala) c.2753G>C (p.Gly918Ala) n.3328G>C c.2921G>C (p.Gly974Ala) c.2735G>C (p.Gly912Ala) n.3331G>C c.3088+13G>C (n.3088+13G>C) c.3026G>C (p.Gly1009Ala) c.3092G>C (p.Gly1031Ala) c.3013+13G>C (n.3013+13G>C) c.3044G>C (p.Gly1015Ala) c.3016+13G>C (n.3016+13G>C) c.3031+13G>C (n.3031+13G>C) c.2909G>C (p.Gly970Ala) c.2908G>C (p.Ala970Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836135G= | CA2215806997 | ATXN2L | c.3098G= (p.Gly1033=) c.3085+13G= (n.3085+13G=) c.1073G= (p.Gly358=) n.3472G= c.280+13G= (n.280+13G=) c.3116G= (p.Gly1039=) c.2162G= (n.2162G=) c.354+13G= c.1076G= (p.Gly359=) c.3119G= (p.Gly1040=) c.3101G= (p.Gly1034=) c.3106+13G= (n.3106+13G=) c.3103+13G= (n.3103+13G=) c.2939G= (p.Gly980=) c.3047G= (p.Gly1016=) c.3029G= (p.Gly1010=) c.2753G= (p.Gly918=) n.3328G= c.2921G= (p.Gly974=) c.2735G= (p.Gly912=) n.3331G= c.3088+13G= (n.3088+13G=) c.3026G= (p.Gly1009=) c.3092G= (p.Gly1031=) c.3013+13G= (n.3013+13G=) c.3044G= (p.Gly1015=) c.3016+13G= (n.3016+13G=) c.3031+13G= (n.3031+13G=) c.2909G= (p.Gly970=) c.2908G= (p.Ala970=) | |
16 | g.28836135G>T | CA395410052 | ATXN2L | c.3098G>T (p.Gly1033Val) c.3085+13G>T (n.3085+13G>T) c.1073G>T (p.Gly358Val) n.3472G>T c.280+13G>T (n.280+13G>T) c.3116G>T (p.Gly1039Val) c.2162G>T (n.2162G>T) c.354+13G>T c.1076G>T (p.Gly359Val) c.3119G>T (p.Gly1040Val) c.3101G>T (p.Gly1034Val) c.3106+13G>T (n.3106+13G>T) c.3103+13G>T (n.3103+13G>T) c.2939G>T (p.Gly980Val) c.3047G>T (p.Gly1016Val) c.3029G>T (p.Gly1010Val) c.2753G>T (p.Gly918Val) n.3328G>T c.2921G>T (p.Gly974Val) c.2735G>T (p.Gly912Val) n.3331G>T c.3088+13G>T (n.3088+13G>T) c.3026G>T (p.Gly1009Val) c.3092G>T (p.Gly1031Val) c.3013+13G>T (n.3013+13G>T) c.3044G>T (p.Gly1015Val) c.3016+13G>T (n.3016+13G>T) c.3031+13G>T (n.3031+13G>T) c.2909G>T (p.Gly970Val) c.2908G>T (p.Ala970Ser) | |
16 | g.28836136C>A | CA494868910 | ATXN2L | c.3099C>A (p.Gly1033=) c.3085+14C>A (n.3085+14C>A) c.1074C>A (p.Gly358=) n.3473C>A c.280+14C>A (n.280+14C>A) c.3117C>A (p.Gly1039=) c.2163C>A (n.2163C>A) c.354+14C>A c.1077C>A (p.Gly359=) c.3120C>A (p.Gly1040=) c.3102C>A (p.Gly1034=) c.3106+14C>A (n.3106+14C>A) c.3103+14C>A (n.3103+14C>A) c.2940C>A (p.Gly980=) c.3048C>A (p.Gly1016=) c.3030C>A (p.Gly1010=) c.2754C>A (p.Gly918=) n.3329C>A c.2922C>A (p.Gly974=) c.2736C>A (p.Gly912=) n.3332C>A c.3088+14C>A (n.3088+14C>A) c.3027C>A (p.Gly1009=) c.3093C>A (p.Gly1031=) c.3013+14C>A (n.3013+14C>A) c.3045C>A (p.Gly1015=) c.3016+14C>A (n.3016+14C>A) c.3031+14C>A (n.3031+14C>A) c.2910C>A (p.Gly970=) c.2909C>A (p.Ala970Asp) | |
16 | g.28836136C= | CA2215807000 | ATXN2L | c.3099C= (p.Gly1033=) c.3085+14C= (n.3085+14C=) c.1074C= (p.Gly358=) n.3473C= c.280+14C= (n.280+14C=) c.3117C= (p.Gly1039=) c.2163C= (n.2163C=) c.354+14C= c.1077C= (p.Gly359=) c.3120C= (p.Gly1040=) c.3102C= (p.Gly1034=) c.3106+14C= (n.3106+14C=) c.3103+14C= (n.3103+14C=) c.2940C= (p.Gly980=) c.3048C= (p.Gly1016=) c.3030C= (p.Gly1010=) c.2754C= (p.Gly918=) n.3329C= c.2922C= (p.Gly974=) c.2736C= (p.Gly912=) n.3332C= c.3088+14C= (n.3088+14C=) c.3027C= (p.Gly1009=) c.3093C= (p.Gly1031=) c.3013+14C= (n.3013+14C=) c.3045C= (p.Gly1015=) c.3016+14C= (n.3016+14C=) c.3031+14C= (n.3031+14C=) c.2910C= (p.Gly970=) c.2909C= (p.Ala970=) | |
16 | g.28836136C>G | CA494868912 | ATXN2L | c.3099C>G (p.Gly1033=) c.3085+14C>G (n.3085+14C>G) c.1074C>G (p.Gly358=) n.3473C>G c.280+14C>G (n.280+14C>G) c.3117C>G (p.Gly1039=) c.2163C>G (n.2163C>G) c.354+14C>G c.1077C>G (p.Gly359=) c.3120C>G (p.Gly1040=) c.3102C>G (p.Gly1034=) c.3106+14C>G (n.3106+14C>G) c.3103+14C>G (n.3103+14C>G) c.2940C>G (p.Gly980=) c.3048C>G (p.Gly1016=) c.3030C>G (p.Gly1010=) c.2754C>G (p.Gly918=) n.3329C>G c.2922C>G (p.Gly974=) c.2736C>G (p.Gly912=) n.3332C>G c.3088+14C>G (n.3088+14C>G) c.3027C>G (p.Gly1009=) c.3093C>G (p.Gly1031=) c.3013+14C>G (n.3013+14C>G) c.3045C>G (p.Gly1015=) c.3016+14C>G (n.3016+14C>G) c.3031+14C>G (n.3031+14C>G) c.2910C>G (p.Gly970=) c.2909C>G (p.Ala970Gly) | |
16 | g.28836136C>T | CA7985177 | ATXN2L | c.3099C>T (p.Gly1033=) c.3085+14C>T (n.3085+14C>T) c.1074C>T (p.Gly358=) n.3473C>T c.280+14C>T (n.280+14C>T) c.3117C>T (p.Gly1039=) c.2163C>T (n.2163C>T) c.354+14C>T c.1077C>T (p.Gly359=) c.3120C>T (p.Gly1040=) c.3102C>T (p.Gly1034=) c.3106+14C>T (n.3106+14C>T) c.3103+14C>T (n.3103+14C>T) c.2940C>T (p.Gly980=) c.3048C>T (p.Gly1016=) c.3030C>T (p.Gly1010=) c.2754C>T (p.Gly918=) n.3329C>T c.2922C>T (p.Gly974=) c.2736C>T (p.Gly912=) n.3332C>T c.3088+14C>T (n.3088+14C>T) c.3027C>T (p.Gly1009=) c.3093C>T (p.Gly1031=) c.3013+14C>T (n.3013+14C>T) c.3045C>T (p.Gly1015=) c.3016+14C>T (n.3016+14C>T) c.3031+14C>T (n.3031+14C>T) c.2910C>T (p.Gly970=) c.2909C>T (p.Ala970Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836137C>A | CA395410059 | ATXN2L | c.3100C>A (p.Gln1034Lys) c.3085+15C>A (n.3085+15C>A) c.1075C>A (p.Gln359Lys) n.3474C>A c.280+15C>A (n.280+15C>A) c.3118C>A (p.Gln1040Lys) c.2164C>A (n.2164C>A) c.354+15C>A c.1078C>A (p.Gln360Lys) c.3121C>A (p.Gln1041Lys) c.3103C>A (p.Gln1035Lys) c.3106+15C>A (n.3106+15C>A) c.3103+15C>A (n.3103+15C>A) c.2941C>A (p.Gln981Lys) c.3049C>A (p.Gln1017Lys) c.3031C>A (p.Gln1011Lys) c.2755C>A (p.Gln919Lys) n.3330C>A c.2923C>A (p.Gln975Lys) c.2737C>A (p.Gln913Lys) n.3333C>A c.3088+15C>A (n.3088+15C>A) c.3028C>A (p.Gln1010Lys) c.3094C>A (p.Gln1032Lys) c.3013+15C>A (n.3013+15C>A) c.3046C>A (p.Gln1016Lys) c.3016+15C>A (n.3016+15C>A) c.3031+15C>A (n.3031+15C>A) c.2911C>A (p.Gln971Lys) c.2910C>A (p.Ala970=) | |
16 | g.28836137C= | CA2215807001 | ATXN2L | c.3100C= (p.Gln1034=) c.3085+15C= (n.3085+15C=) c.1075C= (p.Gln359=) n.3474C= c.280+15C= (n.280+15C=) c.3118C= (p.Gln1040=) c.2164C= (n.2164C=) c.354+15C= c.1078C= (p.Gln360=) c.3121C= (p.Gln1041=) c.3103C= (p.Gln1035=) c.3106+15C= (n.3106+15C=) c.3103+15C= (n.3103+15C=) c.2941C= (p.Gln981=) c.3049C= (p.Gln1017=) c.3031C= (p.Gln1011=) c.2755C= (p.Gln919=) n.3330C= c.2923C= (p.Gln975=) c.2737C= (p.Gln913=) n.3333C= c.3088+15C= (n.3088+15C=) c.3028C= (p.Gln1010=) c.3094C= (p.Gln1032=) c.3013+15C= (n.3013+15C=) c.3046C= (p.Gln1016=) c.3016+15C= (n.3016+15C=) c.3031+15C= (n.3031+15C=) c.2911C= (p.Gln971=) c.2910C= (p.Ala970=) | |
16 | g.28836137C>G | CA395410057 | ATXN2L | c.3100C>G (p.Gln1034Glu) c.3085+15C>G (n.3085+15C>G) c.1075C>G (p.Gln359Glu) n.3474C>G c.280+15C>G (n.280+15C>G) c.3118C>G (p.Gln1040Glu) c.2164C>G (n.2164C>G) c.354+15C>G c.1078C>G (p.Gln360Glu) c.3121C>G (p.Gln1041Glu) c.3103C>G (p.Gln1035Glu) c.3106+15C>G (n.3106+15C>G) c.3103+15C>G (n.3103+15C>G) c.2941C>G (p.Gln981Glu) c.3049C>G (p.Gln1017Glu) c.3031C>G (p.Gln1011Glu) c.2755C>G (p.Gln919Glu) n.3330C>G c.2923C>G (p.Gln975Glu) c.2737C>G (p.Gln913Glu) n.3333C>G c.3088+15C>G (n.3088+15C>G) c.3028C>G (p.Gln1010Glu) c.3094C>G (p.Gln1032Glu) c.3013+15C>G (n.3013+15C>G) c.3046C>G (p.Gln1016Glu) c.3016+15C>G (n.3016+15C>G) c.3031+15C>G (n.3031+15C>G) c.2911C>G (p.Gln971Glu) c.2910C>G (p.Ala970=) | gnomAD v4 |
16 | g.28836137C>T | CA395410055 | ATXN2L | c.3100C>T (p.Gln1034Ter) c.3085+15C>T (n.3085+15C>T) c.1075C>T (p.Gln359Ter) n.3474C>T c.280+15C>T (n.280+15C>T) c.3118C>T (p.Gln1040Ter) c.2164C>T (n.2164C>T) c.354+15C>T c.1078C>T (p.Gln360Ter) c.3121C>T (p.Gln1041Ter) c.3103C>T (p.Gln1035Ter) c.3106+15C>T (n.3106+15C>T) c.3103+15C>T (n.3103+15C>T) c.2941C>T (p.Gln981Ter) c.3049C>T (p.Gln1017Ter) c.3031C>T (p.Gln1011Ter) c.2755C>T (p.Gln919Ter) n.3330C>T c.2923C>T (p.Gln975Ter) c.2737C>T (p.Gln913Ter) n.3333C>T c.3088+15C>T (n.3088+15C>T) c.3028C>T (p.Gln1010Ter) c.3094C>T (p.Gln1032Ter) c.3013+15C>T (n.3013+15C>T) c.3046C>T (p.Gln1016Ter) c.3016+15C>T (n.3016+15C>T) c.3031+15C>T (n.3031+15C>T) c.2911C>T (p.Gln971Ter) c.2910C>T (p.Ala970=) | dbSNP |
16 | g.28836138A>C | CA395410062 | ATXN2L | c.3101A>C (p.Gln1034Pro) c.3085+16A>C (n.3085+16A>C) c.1076A>C (p.Gln359Pro) n.3475A>C c.280+16A>C (n.280+16A>C) c.3119A>C (p.Gln1040Pro) c.2165A>C (n.2165A>C) c.354+16A>C c.1079A>C (p.Gln360Pro) c.3122A>C (p.Gln1041Pro) c.3104A>C (p.Gln1035Pro) c.3106+16A>C (n.3106+16A>C) c.3103+16A>C (n.3103+16A>C) c.2942A>C (p.Gln981Pro) c.3050A>C (p.Gln1017Pro) c.3032A>C (p.Gln1011Pro) c.2756A>C (p.Gln919Pro) n.3331A>C c.2924A>C (p.Gln975Pro) c.2738A>C (p.Gln913Pro) n.3334A>C c.3088+16A>C (n.3088+16A>C) c.3029A>C (p.Gln1010Pro) c.3095A>C (p.Gln1032Pro) c.3013+16A>C (n.3013+16A>C) c.3047A>C (p.Gln1016Pro) c.3016+16A>C (n.3016+16A>C) c.3031+16A>C (n.3031+16A>C) c.2912A>C (p.Gln971Pro) c.2911A>C (p.Arg971=) | |
16 | g.28836138A>G | CA395410063 | ATXN2L | c.3101A>G (p.Gln1034Arg) c.3085+16A>G (n.3085+16A>G) c.1076A>G (p.Gln359Arg) n.3475A>G c.280+16A>G (n.280+16A>G) c.3119A>G (p.Gln1040Arg) c.2165A>G (n.2165A>G) c.354+16A>G c.1079A>G (p.Gln360Arg) c.3122A>G (p.Gln1041Arg) c.3104A>G (p.Gln1035Arg) c.3106+16A>G (n.3106+16A>G) c.3103+16A>G (n.3103+16A>G) c.2942A>G (p.Gln981Arg) c.3050A>G (p.Gln1017Arg) c.3032A>G (p.Gln1011Arg) c.2756A>G (p.Gln919Arg) n.3331A>G c.2924A>G (p.Gln975Arg) c.2738A>G (p.Gln913Arg) n.3334A>G c.3088+16A>G (n.3088+16A>G) c.3029A>G (p.Gln1010Arg) c.3095A>G (p.Gln1032Arg) c.3013+16A>G (n.3013+16A>G) c.3047A>G (p.Gln1016Arg) c.3016+16A>G (n.3016+16A>G) c.3031+16A>G (n.3031+16A>G) c.2912A>G (p.Gln971Arg) c.2911A>G (p.Arg971Gly) | |
16 | g.28836138A>T | CA395410065 | ATXN2L | c.3101A>T (p.Gln1034Leu) c.3085+16A>T (n.3085+16A>T) c.1076A>T (p.Gln359Leu) n.3475A>T c.280+16A>T (n.280+16A>T) c.3119A>T (p.Gln1040Leu) c.2165A>T (n.2165A>T) c.354+16A>T c.1079A>T (p.Gln360Leu) c.3122A>T (p.Gln1041Leu) c.3104A>T (p.Gln1035Leu) c.3106+16A>T (n.3106+16A>T) c.3103+16A>T (n.3103+16A>T) c.2942A>T (p.Gln981Leu) c.3050A>T (p.Gln1017Leu) c.3032A>T (p.Gln1011Leu) c.2756A>T (p.Gln919Leu) n.3331A>T c.2924A>T (p.Gln975Leu) c.2738A>T (p.Gln913Leu) n.3334A>T c.3088+16A>T (n.3088+16A>T) c.3029A>T (p.Gln1010Leu) c.3095A>T (p.Gln1032Leu) c.3013+16A>T (n.3013+16A>T) c.3047A>T (p.Gln1016Leu) c.3016+16A>T (n.3016+16A>T) c.3031+16A>T (n.3031+16A>T) c.2912A>T (p.Gln971Leu) c.2911A>T (p.Arg971Trp) | |
16 | g.28836139G>A | CA494868940 | ATXN2L | c.3102G>A (p.Gln1034=) c.3085+17G>A (n.3085+17G>A) c.1077G>A (p.Gln359=) n.3476G>A c.280+17G>A (n.280+17G>A) c.3120G>A (p.Gln1040=) c.2166G>A (n.2166G>A) c.354+17G>A c.1080G>A (p.Gln360=) c.3123G>A (p.Gln1041=) c.3105G>A (p.Gln1035=) c.3106+17G>A (n.3106+17G>A) c.3103+17G>A (n.3103+17G>A) c.2943G>A (p.Gln981=) c.3051G>A (p.Gln1017=) c.3033G>A (p.Gln1011=) c.2757G>A (p.Gln919=) n.3332G>A c.2925G>A (p.Gln975=) c.2739G>A (p.Gln913=) n.3335G>A c.3088+17G>A (n.3088+17G>A) c.3030G>A (p.Gln1010=) c.3096G>A (p.Gln1032=) c.3013+17G>A (n.3013+17G>A) c.3048G>A (p.Gln1016=) c.3016+17G>A (n.3016+17G>A) c.3031+17G>A (n.3031+17G>A) c.2913G>A (p.Gln971=) c.2912G>A (p.Arg971Lys) | dbSNP |
16 | g.28836139G>C | CA395410067 | ATXN2L | c.3102G>C (p.Gln1034His) c.3085+17G>C (n.3085+17G>C) c.1077G>C (p.Gln359His) n.3476G>C c.280+17G>C (n.280+17G>C) c.3120G>C (p.Gln1040His) c.2166G>C (n.2166G>C) c.354+17G>C c.1080G>C (p.Gln360His) c.3123G>C (p.Gln1041His) c.3105G>C (p.Gln1035His) c.3106+17G>C (n.3106+17G>C) c.3103+17G>C (n.3103+17G>C) c.2943G>C (p.Gln981His) c.3051G>C (p.Gln1017His) c.3033G>C (p.Gln1011His) c.2757G>C (p.Gln919His) n.3332G>C c.2925G>C (p.Gln975His) c.2739G>C (p.Gln913His) n.3335G>C c.3088+17G>C (n.3088+17G>C) c.3030G>C (p.Gln1010His) c.3096G>C (p.Gln1032His) c.3013+17G>C (n.3013+17G>C) c.3048G>C (p.Gln1016His) c.3016+17G>C (n.3016+17G>C) c.3031+17G>C (n.3031+17G>C) c.2913G>C (p.Gln971His) c.2912G>C (p.Arg971Thr) | |
16 | g.28836139G= | CA2215807003 | ATXN2L | c.3102G= (p.Gln1034=) c.3085+17G= (n.3085+17G=) c.1077G= (p.Gln359=) n.3476G= c.280+17G= (n.280+17G=) c.3120G= (p.Gln1040=) c.2166G= (n.2166G=) c.354+17G= c.1080G= (p.Gln360=) c.3123G= (p.Gln1041=) c.3105G= (p.Gln1035=) c.3106+17G= (n.3106+17G=) c.3103+17G= (n.3103+17G=) c.2943G= (p.Gln981=) c.3051G= (p.Gln1017=) c.3033G= (p.Gln1011=) c.2757G= (p.Gln919=) n.3332G= c.2925G= (p.Gln975=) c.2739G= (p.Gln913=) n.3335G= c.3088+17G= (n.3088+17G=) c.3030G= (p.Gln1010=) c.3096G= (p.Gln1032=) c.3013+17G= (n.3013+17G=) c.3048G= (p.Gln1016=) c.3016+17G= (n.3016+17G=) c.3031+17G= (n.3031+17G=) c.2913G= (p.Gln971=) c.2912G= (p.Arg971=) | |
16 | g.28836139G>T | CA395410069 | ATXN2L | c.3102G>T (p.Gln1034His) c.3085+17G>T (n.3085+17G>T) c.1077G>T (p.Gln359His) n.3476G>T c.280+17G>T (n.280+17G>T) c.3120G>T (p.Gln1040His) c.2166G>T (n.2166G>T) c.354+17G>T c.1080G>T (p.Gln360His) c.3123G>T (p.Gln1041His) c.3105G>T (p.Gln1035His) c.3106+17G>T (n.3106+17G>T) c.3103+17G>T (n.3103+17G>T) c.2943G>T (p.Gln981His) c.3051G>T (p.Gln1017His) c.3033G>T (p.Gln1011His) c.2757G>T (p.Gln919His) n.3332G>T c.2925G>T (p.Gln975His) c.2739G>T (p.Gln913His) n.3335G>T c.3088+17G>T (n.3088+17G>T) c.3030G>T (p.Gln1010His) c.3096G>T (p.Gln1032His) c.3013+17G>T (n.3013+17G>T) c.3048G>T (p.Gln1016His) c.3016+17G>T (n.3016+17G>T) c.3031+17G>T (n.3031+17G>T) c.2913G>T (p.Gln971His) c.2912G>T (p.Arg971Met) | |
16 | g.28836140G>A | CA395410071 | ATXN2L | c.3103G>A (p.Ala1035Thr) c.3085+18G>A (n.3085+18G>A) c.1078G>A (p.Ala360Thr) n.3477G>A c.280+18G>A (n.280+18G>A) c.3121G>A (p.Ala1041Thr) c.2167G>A (n.2167G>A) c.354+18G>A c.1081G>A (p.Ala361Thr) c.3124G>A (p.Ala1042Thr) c.3106G>A (p.Ala1036Thr) c.3106+18G>A (n.3106+18G>A) c.3103+18G>A (n.3103+18G>A) c.2944G>A (p.Ala982Thr) c.3052G>A (p.Ala1018Thr) c.3034G>A (p.Ala1012Thr) c.2758G>A (p.Ala920Thr) n.3333G>A c.2926G>A (p.Ala976Thr) c.2740G>A (p.Ala914Thr) n.3336G>A c.3088+18G>A (n.3088+18G>A) c.3031G>A (p.Ala1011Thr) c.3097G>A (p.Ala1033Thr) c.3013+18G>A (n.3013+18G>A) c.3049G>A (p.Ala1017Thr) c.3016+18G>A (n.3016+18G>A) c.3031+18G>A (n.3031+18G>A) c.2914G>A (p.Ala972Thr) c.2913G>A (p.Arg971=) | |
16 | g.28836140G>C | CA395410073 | ATXN2L | c.3103G>C (p.Ala1035Pro) c.3085+18G>C (n.3085+18G>C) c.1078G>C (p.Ala360Pro) n.3477G>C c.280+18G>C (n.280+18G>C) c.3121G>C (p.Ala1041Pro) c.2167G>C (n.2167G>C) c.354+18G>C c.1081G>C (p.Ala361Pro) c.3124G>C (p.Ala1042Pro) c.3106G>C (p.Ala1036Pro) c.3106+18G>C (n.3106+18G>C) c.3103+18G>C (n.3103+18G>C) c.2944G>C (p.Ala982Pro) c.3052G>C (p.Ala1018Pro) c.3034G>C (p.Ala1012Pro) c.2758G>C (p.Ala920Pro) n.3333G>C c.2926G>C (p.Ala976Pro) c.2740G>C (p.Ala914Pro) n.3336G>C c.3088+18G>C (n.3088+18G>C) c.3031G>C (p.Ala1011Pro) c.3097G>C (p.Ala1033Pro) c.3013+18G>C (n.3013+18G>C) c.3049G>C (p.Ala1017Pro) c.3016+18G>C (n.3016+18G>C) c.3031+18G>C (n.3031+18G>C) c.2914G>C (p.Ala972Pro) c.2913G>C (p.Arg971Ser) | |
16 | g.28836140G>T | CA395410074 | ATXN2L | c.3103G>T (p.Ala1035Ser) c.3085+18G>T (n.3085+18G>T) c.1078G>T (p.Ala360Ser) n.3477G>T c.280+18G>T (n.280+18G>T) c.3121G>T (p.Ala1041Ser) c.2167G>T (n.2167G>T) c.354+18G>T c.1081G>T (p.Ala361Ser) c.3124G>T (p.Ala1042Ser) c.3106G>T (p.Ala1036Ser) c.3106+18G>T (n.3106+18G>T) c.3103+18G>T (n.3103+18G>T) c.2944G>T (p.Ala982Ser) c.3052G>T (p.Ala1018Ser) c.3034G>T (p.Ala1012Ser) c.2758G>T (p.Ala920Ser) n.3333G>T c.2926G>T (p.Ala976Ser) c.2740G>T (p.Ala914Ser) n.3336G>T c.3088+18G>T (n.3088+18G>T) c.3031G>T (p.Ala1011Ser) c.3097G>T (p.Ala1033Ser) c.3013+18G>T (n.3013+18G>T) c.3049G>T (p.Ala1017Ser) c.3016+18G>T (n.3016+18G>T) c.3031+18G>T (n.3031+18G>T) c.2914G>T (p.Ala972Ser) c.2913G>T (p.Arg971Ser) | gnomAD v4 |
16 | g.28836141C>A | CA395410077 | ATXN2L | c.3104C>A (p.Ala1035Glu) c.3085+19C>A (n.3085+19C>A) c.1079C>A (p.Ala360Glu) n.3478C>A c.280+19C>A (n.280+19C>A) c.3122C>A (p.Ala1041Glu) c.2168C>A (n.2168C>A) c.354+19C>A c.1082C>A (p.Ala361Glu) c.3125C>A (p.Ala1042Glu) c.3107C>A (p.Ala1036Glu) c.3106+19C>A (n.3106+19C>A) c.3103+19C>A (n.3103+19C>A) c.2945C>A (p.Ala982Glu) c.3053C>A (p.Ala1018Glu) c.3035C>A (p.Ala1012Glu) c.2759C>A (p.Ala920Glu) n.3334C>A c.2927C>A (p.Ala976Glu) c.2741C>A (p.Ala914Glu) n.3337C>A c.3088+19C>A (n.3088+19C>A) c.3032C>A (p.Ala1011Glu) c.3098C>A (p.Ala1033Glu) c.3013+19C>A (n.3013+19C>A) c.3050C>A (p.Ala1017Glu) c.3016+19C>A (n.3016+19C>A) c.3031+19C>A (n.3031+19C>A) c.2915C>A (p.Ala972Glu) c.2914C>A (p.Arg972Ser) | |
16 | g.28836141C= | CA2215807005 | ATXN2L | c.3104C= (p.Ala1035=) c.3085+19C= (n.3085+19C=) c.1079C= (p.Ala360=) n.3478C= c.280+19C= (n.280+19C=) c.3122C= (p.Ala1041=) c.2168C= (n.2168C=) c.354+19C= c.1082C= (p.Ala361=) c.3125C= (p.Ala1042=) c.3107C= (p.Ala1036=) c.3106+19C= (n.3106+19C=) c.3103+19C= (n.3103+19C=) c.2945C= (p.Ala982=) c.3053C= (p.Ala1018=) c.3035C= (p.Ala1012=) c.2759C= (p.Ala920=) n.3334C= c.2927C= (p.Ala976=) c.2741C= (p.Ala914=) n.3337C= c.3088+19C= (n.3088+19C=) c.3032C= (p.Ala1011=) c.3098C= (p.Ala1033=) c.3013+19C= (n.3013+19C=) c.3050C= (p.Ala1017=) c.3016+19C= (n.3016+19C=) c.3031+19C= (n.3031+19C=) c.2915C= (p.Ala972=) c.2914C= (p.Arg972=) | |
16 | g.28836141C>G | CA395410079 | ATXN2L | c.3104C>G (p.Ala1035Gly) c.3085+19C>G (n.3085+19C>G) c.1079C>G (p.Ala360Gly) n.3478C>G c.280+19C>G (n.280+19C>G) c.3122C>G (p.Ala1041Gly) c.2168C>G (n.2168C>G) c.354+19C>G c.1082C>G (p.Ala361Gly) c.3125C>G (p.Ala1042Gly) c.3107C>G (p.Ala1036Gly) c.3106+19C>G (n.3106+19C>G) c.3103+19C>G (n.3103+19C>G) c.2945C>G (p.Ala982Gly) c.3053C>G (p.Ala1018Gly) c.3035C>G (p.Ala1012Gly) c.2759C>G (p.Ala920Gly) n.3334C>G c.2927C>G (p.Ala976Gly) c.2741C>G (p.Ala914Gly) n.3337C>G c.3088+19C>G (n.3088+19C>G) c.3032C>G (p.Ala1011Gly) c.3098C>G (p.Ala1033Gly) c.3013+19C>G (n.3013+19C>G) c.3050C>G (p.Ala1017Gly) c.3016+19C>G (n.3016+19C>G) c.3031+19C>G (n.3031+19C>G) c.2915C>G (p.Ala972Gly) c.2914C>G (p.Arg972Gly) | |
16 | g.28836141C>T | CA7985178 | ATXN2L | c.3104C>T (p.Ala1035Val) c.3085+19C>T (n.3085+19C>T) c.1079C>T (p.Ala360Val) n.3478C>T c.280+19C>T (n.280+19C>T) c.3122C>T (p.Ala1041Val) c.2168C>T (n.2168C>T) c.354+19C>T c.1082C>T (p.Ala361Val) c.3125C>T (p.Ala1042Val) c.3107C>T (p.Ala1036Val) c.3106+19C>T (n.3106+19C>T) c.3103+19C>T (n.3103+19C>T) c.2945C>T (p.Ala982Val) c.3053C>T (p.Ala1018Val) c.3035C>T (p.Ala1012Val) c.2759C>T (p.Ala920Val) n.3334C>T c.2927C>T (p.Ala976Val) c.2741C>T (p.Ala914Val) n.3337C>T c.3088+19C>T (n.3088+19C>T) c.3032C>T (p.Ala1011Val) c.3098C>T (p.Ala1033Val) c.3013+19C>T (n.3013+19C>T) c.3050C>T (p.Ala1017Val) c.3016+19C>T (n.3016+19C>T) c.3031+19C>T (n.3031+19C>T) c.2915C>T (p.Ala972Val) c.2914C>T (p.Arg972Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836142G>A | CA7985179 | ATXN2L | c.3105G>A (p.Ala1035=) c.3085+20G>A (n.3085+20G>A) c.1080G>A (p.Ala360=) n.3479G>A c.280+20G>A (n.280+20G>A) c.3123G>A (p.Ala1041=) c.2169G>A (n.2169G>A) c.354+20G>A c.1083G>A (p.Ala361=) c.3126G>A (p.Ala1042=) c.3108G>A (p.Ala1036=) c.3106+20G>A (n.3106+20G>A) c.3103+20G>A (n.3103+20G>A) c.2946G>A (p.Ala982=) c.3054G>A (p.Ala1018=) c.3036G>A (p.Ala1012=) c.2760G>A (p.Ala920=) n.3335G>A c.2928G>A (p.Ala976=) c.2742G>A (p.Ala914=) n.3338G>A c.3088+20G>A (n.3088+20G>A) c.3033G>A (p.Ala1011=) c.3099G>A (p.Ala1033=) c.3013+20G>A (n.3013+20G>A) c.3051G>A (p.Ala1017=) c.3016+20G>A (n.3016+20G>A) c.3031+20G>A (n.3031+20G>A) c.2916G>A (p.Ala972=) c.2915G>A (p.Arg972His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836142G>C | CA494868961 | ATXN2L | c.3105G>C (p.Ala1035=) c.3085+20G>C (n.3085+20G>C) c.1080G>C (p.Ala360=) n.3479G>C c.280+20G>C (n.280+20G>C) c.3123G>C (p.Ala1041=) c.2169G>C (n.2169G>C) c.354+20G>C c.1083G>C (p.Ala361=) c.3126G>C (p.Ala1042=) c.3108G>C (p.Ala1036=) c.3106+20G>C (n.3106+20G>C) c.3103+20G>C (n.3103+20G>C) c.2946G>C (p.Ala982=) c.3054G>C (p.Ala1018=) c.3036G>C (p.Ala1012=) c.2760G>C (p.Ala920=) n.3335G>C c.2928G>C (p.Ala976=) c.2742G>C (p.Ala914=) n.3338G>C c.3088+20G>C (n.3088+20G>C) c.3033G>C (p.Ala1011=) c.3099G>C (p.Ala1033=) c.3013+20G>C (n.3013+20G>C) c.3051G>C (p.Ala1017=) c.3016+20G>C (n.3016+20G>C) c.3031+20G>C (n.3031+20G>C) c.2916G>C (p.Ala972=) c.2915G>C (p.Arg972Pro) | |
16 | g.28836142G= | CA2215807010 | ATXN2L | c.3105G= (p.Ala1035=) c.3085+20G= (n.3085+20G=) c.1080G= (p.Ala360=) n.3479G= c.280+20G= (n.280+20G=) c.3123G= (p.Ala1041=) c.2169G= (n.2169G=) c.354+20G= c.1083G= (p.Ala361=) c.3126G= (p.Ala1042=) c.3108G= (p.Ala1036=) c.3106+20G= (n.3106+20G=) c.3103+20G= (n.3103+20G=) c.2946G= (p.Ala982=) c.3054G= (p.Ala1018=) c.3036G= (p.Ala1012=) c.2760G= (p.Ala920=) n.3335G= c.2928G= (p.Ala976=) c.2742G= (p.Ala914=) n.3338G= c.3088+20G= (n.3088+20G=) c.3033G= (p.Ala1011=) c.3099G= (p.Ala1033=) c.3013+20G= (n.3013+20G=) c.3051G= (p.Ala1017=) c.3016+20G= (n.3016+20G=) c.3031+20G= (n.3031+20G=) c.2916G= (p.Ala972=) c.2915G= (p.Arg972=) | |
16 | g.28836142G>T | CA494868964 | ATXN2L | c.3105G>T (p.Ala1035=) c.3085+20G>T (n.3085+20G>T) c.1080G>T (p.Ala360=) n.3479G>T c.280+20G>T (n.280+20G>T) c.3123G>T (p.Ala1041=) c.2169G>T (n.2169G>T) c.354+20G>T c.1083G>T (p.Ala361=) c.3126G>T (p.Ala1042=) c.3108G>T (p.Ala1036=) c.3106+20G>T (n.3106+20G>T) c.3103+20G>T (n.3103+20G>T) c.2946G>T (p.Ala982=) c.3054G>T (p.Ala1018=) c.3036G>T (p.Ala1012=) c.2760G>T (p.Ala920=) n.3335G>T c.2928G>T (p.Ala976=) c.2742G>T (p.Ala914=) n.3338G>T c.3088+20G>T (n.3088+20G>T) c.3033G>T (p.Ala1011=) c.3099G>T (p.Ala1033=) c.3013+20G>T (n.3013+20G>T) c.3051G>T (p.Ala1017=) c.3016+20G>T (n.3016+20G>T) c.3031+20G>T (n.3031+20G>T) c.2916G>T (p.Ala972=) c.2915G>T (p.Arg972Leu) | dbSNP |
16 | g.28836143C>A | CA395410083 | ATXN2L | c.3106C>A (p.Pro1036Thr) c.3085+21C>A (n.3085+21C>A) c.1081C>A (p.Pro361Thr) n.3480C>A c.280+21C>A (n.280+21C>A) c.3124C>A (p.Pro1042Thr) c.2170C>A (n.2170C>A) c.354+21C>A c.1084C>A (p.Pro362Thr) c.3127C>A (p.Pro1043Thr) c.3109C>A (p.Pro1037Thr) c.3106+21C>A (n.3106+21C>A) c.3103+21C>A (n.3103+21C>A) c.2947C>A (p.Pro983Thr) c.3055C>A (p.Pro1019Thr) c.3037C>A (p.Pro1013Thr) c.2761C>A (p.Pro921Thr) n.3336C>A c.2929C>A (p.Pro977Thr) c.2743C>A (p.Pro915Thr) n.3339C>A c.3088+21C>A (n.3088+21C>A) c.3034C>A (p.Pro1012Thr) c.3100C>A (p.Pro1034Thr) c.3013+21C>A (n.3013+21C>A) c.3052C>A (p.Pro1018Thr) c.3016+21C>A (n.3016+21C>A) c.3031+21C>A (n.3031+21C>A) c.2917C>A (p.Pro973Thr) c.2916C>A (p.Arg972=) | |
16 | g.28836143C= | CA2215807011 | ATXN2L | c.3106C= (p.Pro1036=) c.3085+21C= (n.3085+21C=) c.1081C= (p.Pro361=) n.3480C= c.280+21C= (n.280+21C=) c.3124C= (p.Pro1042=) c.2170C= (n.2170C=) c.354+21C= c.1084C= (p.Pro362=) c.3127C= (p.Pro1043=) c.3109C= (p.Pro1037=) c.3106+21C= (n.3106+21C=) c.3103+21C= (n.3103+21C=) c.2947C= (p.Pro983=) c.3055C= (p.Pro1019=) c.3037C= (p.Pro1013=) c.2761C= (p.Pro921=) n.3336C= c.2929C= (p.Pro977=) c.2743C= (p.Pro915=) n.3339C= c.3088+21C= (n.3088+21C=) c.3034C= (p.Pro1012=) c.3100C= (p.Pro1034=) c.3013+21C= (n.3013+21C=) c.3052C= (p.Pro1018=) c.3016+21C= (n.3016+21C=) c.3031+21C= (n.3031+21C=) c.2917C= (p.Pro973=) c.2916C= (p.Arg972=) | |
16 | g.28836143C>G | CA395410084 | ATXN2L | c.3106C>G (p.Pro1036Ala) c.3085+21C>G (n.3085+21C>G) c.1081C>G (p.Pro361Ala) n.3480C>G c.280+21C>G (n.280+21C>G) c.3124C>G (p.Pro1042Ala) c.2170C>G (n.2170C>G) c.354+21C>G c.1084C>G (p.Pro362Ala) c.3127C>G (p.Pro1043Ala) c.3109C>G (p.Pro1037Ala) c.3106+21C>G (n.3106+21C>G) c.3103+21C>G (n.3103+21C>G) c.2947C>G (p.Pro983Ala) c.3055C>G (p.Pro1019Ala) c.3037C>G (p.Pro1013Ala) c.2761C>G (p.Pro921Ala) n.3336C>G c.2929C>G (p.Pro977Ala) c.2743C>G (p.Pro915Ala) n.3339C>G c.3088+21C>G (n.3088+21C>G) c.3034C>G (p.Pro1012Ala) c.3100C>G (p.Pro1034Ala) c.3013+21C>G (n.3013+21C>G) c.3052C>G (p.Pro1018Ala) c.3016+21C>G (n.3016+21C>G) c.3031+21C>G (n.3031+21C>G) c.2917C>G (p.Pro973Ala) c.2916C>G (p.Arg972=) | gnomAD v4 |
16 | g.28836143C>T | CA7985180 | ATXN2L | c.3106C>T (p.Pro1036Ser) c.3085+21C>T (n.3085+21C>T) c.1081C>T (p.Pro361Ser) n.3480C>T c.280+21C>T (n.280+21C>T) c.3124C>T (p.Pro1042Ser) c.2170C>T (n.2170C>T) c.354+21C>T c.1084C>T (p.Pro362Ser) c.3127C>T (p.Pro1043Ser) c.3109C>T (p.Pro1037Ser) c.3106+21C>T (n.3106+21C>T) c.3103+21C>T (n.3103+21C>T) c.2947C>T (p.Pro983Ser) c.3055C>T (p.Pro1019Ser) c.3037C>T (p.Pro1013Ser) c.2761C>T (p.Pro921Ser) n.3336C>T c.2929C>T (p.Pro977Ser) c.2743C>T (p.Pro915Ser) n.3339C>T c.3088+21C>T (n.3088+21C>T) c.3034C>T (p.Pro1012Ser) c.3100C>T (p.Pro1034Ser) c.3013+21C>T (n.3013+21C>T) c.3052C>T (p.Pro1018Ser) c.3016+21C>T (n.3016+21C>T) c.3031+21C>T (n.3031+21C>T) c.2917C>T (p.Pro973Ser) c.2916C>T (p.Arg972=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836144C>A | CA395410088 | ATXN2L | c.3107C>A (p.Pro1036His) c.3085+22C>A (n.3085+22C>A) c.1082C>A (p.Pro361His) n.3481C>A c.280+22C>A (n.280+22C>A) c.3125C>A (p.Pro1042His) c.2171C>A (n.2171C>A) c.354+22C>A c.1085C>A (p.Pro362His) c.3128C>A (p.Pro1043His) c.3110C>A (p.Pro1037His) c.3106+22C>A (n.3106+22C>A) c.3103+22C>A (n.3103+22C>A) c.2948C>A (p.Pro983His) c.3056C>A (p.Pro1019His) c.3038C>A (p.Pro1013His) c.2762C>A (p.Pro921His) n.3337C>A c.2930C>A (p.Pro977His) c.2744C>A (p.Pro915His) n.3340C>A c.3088+22C>A (n.3088+22C>A) c.3035C>A (p.Pro1012His) c.3101C>A (p.Pro1034His) c.3013+22C>A (n.3013+22C>A) c.3053C>A (p.Pro1018His) c.3016+22C>A (n.3016+22C>A) c.3031+22C>A (n.3031+22C>A) c.2918C>A (p.Pro973His) c.2917C>A (p.Leu973Met) | |
16 | g.28836144C= | CA2215807014 | ATXN2L | c.3107C= (p.Pro1036=) c.3085+22C= (n.3085+22C=) c.1082C= (p.Pro361=) n.3481C= c.280+22C= (n.280+22C=) c.3125C= (p.Pro1042=) c.2171C= (n.2171C=) c.354+22C= c.1085C= (p.Pro362=) c.3128C= (p.Pro1043=) c.3110C= (p.Pro1037=) c.3106+22C= (n.3106+22C=) c.3103+22C= (n.3103+22C=) c.2948C= (p.Pro983=) c.3056C= (p.Pro1019=) c.3038C= (p.Pro1013=) c.2762C= (p.Pro921=) n.3337C= c.2930C= (p.Pro977=) c.2744C= (p.Pro915=) n.3340C= c.3088+22C= (n.3088+22C=) c.3035C= (p.Pro1012=) c.3101C= (p.Pro1034=) c.3013+22C= (n.3013+22C=) c.3053C= (p.Pro1018=) c.3016+22C= (n.3016+22C=) c.3031+22C= (n.3031+22C=) c.2918C= (p.Pro973=) c.2917C= (p.Leu973=) | |
16 | g.28836144C>G | CA395410090 | ATXN2L | c.3107C>G (p.Pro1036Arg) c.3085+22C>G (n.3085+22C>G) c.1082C>G (p.Pro361Arg) n.3481C>G c.280+22C>G (n.280+22C>G) c.3125C>G (p.Pro1042Arg) c.2171C>G (n.2171C>G) c.354+22C>G c.1085C>G (p.Pro362Arg) c.3128C>G (p.Pro1043Arg) c.3110C>G (p.Pro1037Arg) c.3106+22C>G (n.3106+22C>G) c.3103+22C>G (n.3103+22C>G) c.2948C>G (p.Pro983Arg) c.3056C>G (p.Pro1019Arg) c.3038C>G (p.Pro1013Arg) c.2762C>G (p.Pro921Arg) n.3337C>G c.2930C>G (p.Pro977Arg) c.2744C>G (p.Pro915Arg) n.3340C>G c.3088+22C>G (n.3088+22C>G) c.3035C>G (p.Pro1012Arg) c.3101C>G (p.Pro1034Arg) c.3013+22C>G (n.3013+22C>G) c.3053C>G (p.Pro1018Arg) c.3016+22C>G (n.3016+22C>G) c.3031+22C>G (n.3031+22C>G) c.2918C>G (p.Pro973Arg) c.2917C>G (p.Leu973Val) | |
16 | g.28836144C>T | CA395410087 | ATXN2L | c.3107C>T (p.Pro1036Leu) c.3085+22C>T (n.3085+22C>T) c.1082C>T (p.Pro361Leu) n.3481C>T c.280+22C>T (n.280+22C>T) c.3125C>T (p.Pro1042Leu) c.2171C>T (n.2171C>T) c.354+22C>T c.1085C>T (p.Pro362Leu) c.3128C>T (p.Pro1043Leu) c.3110C>T (p.Pro1037Leu) c.3106+22C>T (n.3106+22C>T) c.3103+22C>T (n.3103+22C>T) c.2948C>T (p.Pro983Leu) c.3056C>T (p.Pro1019Leu) c.3038C>T (p.Pro1013Leu) c.2762C>T (p.Pro921Leu) n.3337C>T c.2930C>T (p.Pro977Leu) c.2744C>T (p.Pro915Leu) n.3340C>T c.3088+22C>T (n.3088+22C>T) c.3035C>T (p.Pro1012Leu) c.3101C>T (p.Pro1034Leu) c.3013+22C>T (n.3013+22C>T) c.3053C>T (p.Pro1018Leu) c.3016+22C>T (n.3016+22C>T) c.3031+22C>T (n.3031+22C>T) c.2918C>T (p.Pro973Leu) c.2917C>T (p.Leu973=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
16 | g.28836145T>A | CA494869035 | ATXN2L | c.3108T>A (p.Pro1036=) c.3085+23T>A (n.3085+23T>A) c.1083T>A (p.Pro361=) n.3482T>A c.280+23T>A (n.280+23T>A) c.3126T>A (p.Pro1042=) c.2172T>A (n.2172T>A) c.354+23T>A c.1086T>A (p.Pro362=) c.3129T>A (p.Pro1043=) c.3111T>A (p.Pro1037=) c.3106+23T>A (n.3106+23T>A) c.3103+23T>A (n.3103+23T>A) c.2949T>A (p.Pro983=) c.3057T>A (p.Pro1019=) c.3039T>A (p.Pro1013=) c.2763T>A (p.Pro921=) n.3338T>A c.2931T>A (p.Pro977=) c.2745T>A (p.Pro915=) n.3341T>A c.3088+23T>A (n.3088+23T>A) c.3036T>A (p.Pro1012=) c.3102T>A (p.Pro1034=) c.3013+23T>A (n.3013+23T>A) c.3054T>A (p.Pro1018=) c.3016+23T>A (n.3016+23T>A) c.3031+23T>A (n.3031+23T>A) c.2919T>A (p.Pro973=) c.2918T>A (p.Leu973Gln) | |
16 | g.28836145T>C | CA494869037 | ATXN2L | c.3108T>C (p.Pro1036=) c.3085+23T>C (n.3085+23T>C) c.1083T>C (p.Pro361=) n.3482T>C c.280+23T>C (n.280+23T>C) c.3126T>C (p.Pro1042=) c.2172T>C (n.2172T>C) c.354+23T>C c.1086T>C (p.Pro362=) c.3129T>C (p.Pro1043=) c.3111T>C (p.Pro1037=) c.3106+23T>C (n.3106+23T>C) c.3103+23T>C (n.3103+23T>C) c.2949T>C (p.Pro983=) c.3057T>C (p.Pro1019=) c.3039T>C (p.Pro1013=) c.2763T>C (p.Pro921=) n.3338T>C c.2931T>C (p.Pro977=) c.2745T>C (p.Pro915=) n.3341T>C c.3088+23T>C (n.3088+23T>C) c.3036T>C (p.Pro1012=) c.3102T>C (p.Pro1034=) c.3013+23T>C (n.3013+23T>C) c.3054T>C (p.Pro1018=) c.3016+23T>C (n.3016+23T>C) c.3031+23T>C (n.3031+23T>C) c.2919T>C (p.Pro973=) c.2918T>C (p.Leu973Pro) | |
16 | g.28836145T>G | CA494869015 | ATXN2L | c.3108T>G (p.Pro1036=) c.3085+23T>G (n.3085+23T>G) c.1083T>G (p.Pro361=) n.3482T>G c.280+23T>G (n.280+23T>G) c.3126T>G (p.Pro1042=) c.2172T>G (n.2172T>G) c.354+23T>G c.1086T>G (p.Pro362=) c.3129T>G (p.Pro1043=) c.3111T>G (p.Pro1037=) c.3106+23T>G (n.3106+23T>G) c.3103+23T>G (n.3103+23T>G) c.2949T>G (p.Pro983=) c.3057T>G (p.Pro1019=) c.3039T>G (p.Pro1013=) c.2763T>G (p.Pro921=) n.3338T>G c.2931T>G (p.Pro977=) c.2745T>G (p.Pro915=) n.3341T>G c.3088+23T>G (n.3088+23T>G) c.3036T>G (p.Pro1012=) c.3102T>G (p.Pro1034=) c.3013+23T>G (n.3013+23T>G) c.3054T>G (p.Pro1018=) c.3016+23T>G (n.3016+23T>G) c.3031+23T>G (n.3031+23T>G) c.2919T>G (p.Pro973=) c.2918T>G (p.Leu973Arg) | gnomAD v4 |
16 | g.28836146G>A | CA395410092 | ATXN2L | c.3109G>A (p.Gly1037Arg) c.3085+24G>A (n.3085+24G>A) c.1084G>A (p.Gly362Arg) n.3483G>A c.280+24G>A (n.280+24G>A) c.3127G>A (p.Gly1043Arg) c.2173G>A (n.2173G>A) c.354+24G>A c.1087G>A (p.Gly363Arg) c.3130G>A (p.Gly1044Arg) c.3112G>A (p.Gly1038Arg) c.3106+24G>A (n.3106+24G>A) c.3103+24G>A (n.3103+24G>A) c.2950G>A (p.Gly984Arg) c.3058G>A (p.Gly1020Arg) c.3040G>A (p.Gly1014Arg) c.2764G>A (p.Gly922Arg) n.3339G>A c.2932G>A (p.Gly978Arg) c.2746G>A (p.Gly916Arg) n.3342G>A c.3088+24G>A (n.3088+24G>A) c.3037G>A (p.Gly1013Arg) c.3103G>A (p.Gly1035Arg) c.3013+24G>A (n.3013+24G>A) c.3055G>A (p.Gly1019Arg) c.3016+24G>A (n.3016+24G>A) c.3031+24G>A (n.3031+24G>A) c.2920G>A (p.Gly974Arg) c.2919G>A (p.Leu973=) | gnomAD v4 |
16 | g.28836146G>C | CA395410094 | ATXN2L | c.3109G>C (p.Gly1037Arg) c.3085+24G>C (n.3085+24G>C) c.1084G>C (p.Gly362Arg) n.3483G>C c.280+24G>C (n.280+24G>C) c.3127G>C (p.Gly1043Arg) c.2173G>C (n.2173G>C) c.354+24G>C c.1087G>C (p.Gly363Arg) c.3130G>C (p.Gly1044Arg) c.3112G>C (p.Gly1038Arg) c.3106+24G>C (n.3106+24G>C) c.3103+24G>C (n.3103+24G>C) c.2950G>C (p.Gly984Arg) c.3058G>C (p.Gly1020Arg) c.3040G>C (p.Gly1014Arg) c.2764G>C (p.Gly922Arg) n.3339G>C c.2932G>C (p.Gly978Arg) c.2746G>C (p.Gly916Arg) n.3342G>C c.3088+24G>C (n.3088+24G>C) c.3037G>C (p.Gly1013Arg) c.3103G>C (p.Gly1035Arg) c.3013+24G>C (n.3013+24G>C) c.3055G>C (p.Gly1019Arg) c.3016+24G>C (n.3016+24G>C) c.3031+24G>C (n.3031+24G>C) c.2920G>C (p.Gly974Arg) c.2919G>C (p.Leu973=) | |
16 | g.28836146G>T | CA395410100 | ATXN2L | c.3109G>T (p.Gly1037Ter) c.3085+24G>T (n.3085+24G>T) c.1084G>T (p.Gly362Ter) n.3483G>T c.280+24G>T (n.280+24G>T) c.3127G>T (p.Gly1043Ter) c.2173G>T (n.2173G>T) c.354+24G>T c.1087G>T (p.Gly363Ter) c.3130G>T (p.Gly1044Ter) c.3112G>T (p.Gly1038Ter) c.3106+24G>T (n.3106+24G>T) c.3103+24G>T (n.3103+24G>T) c.2950G>T (p.Gly984Ter) c.3058G>T (p.Gly1020Ter) c.3040G>T (p.Gly1014Ter) c.2764G>T (p.Gly922Ter) n.3339G>T c.2932G>T (p.Gly978Ter) c.2746G>T (p.Gly916Ter) n.3342G>T c.3088+24G>T (n.3088+24G>T) c.3037G>T (p.Gly1013Ter) c.3103G>T (p.Gly1035Ter) c.3013+24G>T (n.3013+24G>T) c.3055G>T (p.Gly1019Ter) c.3016+24G>T (n.3016+24G>T) c.3031+24G>T (n.3031+24G>T) c.2920G>T (p.Gly974Ter) c.2919G>T (p.Leu973=) | |
16 | g.28836147del | CA2632529438 | ATXN2L | c.3110del (p.Gly1037AspfsTer15) c.3110del (p.Gly1037AspfsTer19) c.3085+25del (n.3085+25del) c.3110del (p.Gly1037AspfsTer?) c.1085del (p.Gly362AspfsTer15) n.3484del c.280+25del (n.280+25del) c.3128del (p.Gly1043AspfsTer?) c.2174del (n.2174del) c.354+25del c.1088del (p.Gly363AspfsTer15) c.3131del (p.Gly1044AspfsTer?) c.3113del (p.Gly1038AspfsTer?) c.3106+25del (n.3106+25del) c.3131del (p.Gly1044AspfsTer15) c.3131del (p.Gly1044AspfsTer19) c.3103+25del (n.3103+25del) c.2951del (p.Gly984AspfsTer?) c.3059del (p.Gly1020AspfsTer?) c.3041del (p.Gly1014AspfsTer?) c.2765del (p.Gly922AspfsTer?) n.3340del c.2933del (p.Gly978AspfsTer?) c.2747del (p.Gly916AspfsTer?) n.3343del c.3128del (p.Gly1043AspfsTer15) c.3088+25del (n.3088+25del) c.3113del (p.Gly1038AspfsTer15) c.3038del (p.Gly1013AspfsTer?) c.3104del (p.Gly1035AspfsTer15) c.3128del (p.Gly1043AspfsTer19) c.3113del (p.Gly1038AspfsTer19) c.3013+25del (n.3013+25del) c.3041del (p.Gly1014AspfsTer15) c.3038del (p.Gly1013AspfsTer15) c.3056del (p.Gly1019AspfsTer19) c.3016+25del (n.3016+25del) c.3031+25del (n.3031+25del) c.2921del (p.Gly974AspfsTer15) c.2920del (p.Asp974IlefsTer7) | gnomAD v4 |
16 | g.28836147G>A | CA395410102 | ATXN2L | c.3110G>A (p.Gly1037Glu) c.3085+25G>A (n.3085+25G>A) c.1085G>A (p.Gly362Glu) n.3484G>A c.280+25G>A (n.280+25G>A) c.3128G>A (p.Gly1043Glu) c.2174G>A (n.2174G>A) c.354+25G>A c.1088G>A (p.Gly363Glu) c.3131G>A (p.Gly1044Glu) c.3113G>A (p.Gly1038Glu) c.3106+25G>A (n.3106+25G>A) c.3103+25G>A (n.3103+25G>A) c.2951G>A (p.Gly984Glu) c.3059G>A (p.Gly1020Glu) c.3041G>A (p.Gly1014Glu) c.2765G>A (p.Gly922Glu) n.3340G>A c.2933G>A (p.Gly978Glu) c.2747G>A (p.Gly916Glu) n.3343G>A c.3088+25G>A (n.3088+25G>A) c.3038G>A (p.Gly1013Glu) c.3104G>A (p.Gly1035Glu) c.3013+25G>A (n.3013+25G>A) c.3056G>A (p.Gly1019Glu) c.3016+25G>A (n.3016+25G>A) c.3031+25G>A (n.3031+25G>A) c.2921G>A (p.Gly974Glu) c.2920G>A (p.Asp974Asn) | |
16 | g.28836147G>C | CA395410105 | ATXN2L | c.3110G>C (p.Gly1037Ala) c.3085+25G>C (n.3085+25G>C) c.1085G>C (p.Gly362Ala) n.3484G>C c.280+25G>C (n.280+25G>C) c.3128G>C (p.Gly1043Ala) c.2174G>C (n.2174G>C) c.354+25G>C c.1088G>C (p.Gly363Ala) c.3131G>C (p.Gly1044Ala) c.3113G>C (p.Gly1038Ala) c.3106+25G>C (n.3106+25G>C) c.3103+25G>C (n.3103+25G>C) c.2951G>C (p.Gly984Ala) c.3059G>C (p.Gly1020Ala) c.3041G>C (p.Gly1014Ala) c.2765G>C (p.Gly922Ala) n.3340G>C c.2933G>C (p.Gly978Ala) c.2747G>C (p.Gly916Ala) n.3343G>C c.3088+25G>C (n.3088+25G>C) c.3038G>C (p.Gly1013Ala) c.3104G>C (p.Gly1035Ala) c.3013+25G>C (n.3013+25G>C) c.3056G>C (p.Gly1019Ala) c.3016+25G>C (n.3016+25G>C) c.3031+25G>C (n.3031+25G>C) c.2921G>C (p.Gly974Ala) c.2920G>C (p.Asp974His) | |
16 | g.28836147G>T | CA395410107 | ATXN2L | c.3110G>T (p.Gly1037Val) c.3085+25G>T (n.3085+25G>T) c.1085G>T (p.Gly362Val) n.3484G>T c.280+25G>T (n.280+25G>T) c.3128G>T (p.Gly1043Val) c.2174G>T (n.2174G>T) c.354+25G>T c.1088G>T (p.Gly363Val) c.3131G>T (p.Gly1044Val) c.3113G>T (p.Gly1038Val) c.3106+25G>T (n.3106+25G>T) c.3103+25G>T (n.3103+25G>T) c.2951G>T (p.Gly984Val) c.3059G>T (p.Gly1020Val) c.3041G>T (p.Gly1014Val) c.2765G>T (p.Gly922Val) n.3340G>T c.2933G>T (p.Gly978Val) c.2747G>T (p.Gly916Val) n.3343G>T c.3088+25G>T (n.3088+25G>T) c.3038G>T (p.Gly1013Val) c.3104G>T (p.Gly1035Val) c.3013+25G>T (n.3013+25G>T) c.3056G>T (p.Gly1019Val) c.3016+25G>T (n.3016+25G>T) c.3031+25G>T (n.3031+25G>T) c.2921G>T (p.Gly974Val) c.2920G>T (p.Asp974Tyr) | |
16 | g.28836148A>C | CA494869055 | ATXN2L | c.3111A>C (p.Gly1037=) c.3085+26A>C (n.3085+26A>C) c.1086A>C (p.Gly362=) n.3485A>C c.280+26A>C (n.280+26A>C) c.3129A>C (p.Gly1043=) c.2175A>C (n.2175A>C) c.354+26A>C c.1089A>C (p.Gly363=) c.3132A>C (p.Gly1044=) c.3114A>C (p.Gly1038=) c.3106+26A>C (n.3106+26A>C) c.3103+26A>C (n.3103+26A>C) c.2952A>C (p.Gly984=) c.3060A>C (p.Gly1020=) c.3042A>C (p.Gly1014=) c.2766A>C (p.Gly922=) n.3341A>C c.2934A>C (p.Gly978=) c.2748A>C (p.Gly916=) n.3344A>C c.3088+26A>C (n.3088+26A>C) c.3039A>C (p.Gly1013=) c.3105A>C (p.Gly1035=) c.3013+26A>C (n.3013+26A>C) c.3057A>C (p.Gly1019=) c.3016+26A>C (n.3016+26A>C) c.3031+26A>C (n.3031+26A>C) c.2922A>C (p.Gly974=) c.2921A>C (p.Asp974Ala) | |
16 | g.28836148A>G | CA494869062 | ATXN2L | c.3111A>G (p.Gly1037=) c.3085+26A>G (n.3085+26A>G) c.1086A>G (p.Gly362=) n.3485A>G c.280+26A>G (n.280+26A>G) c.3129A>G (p.Gly1043=) c.2175A>G (n.2175A>G) c.354+26A>G c.1089A>G (p.Gly363=) c.3132A>G (p.Gly1044=) c.3114A>G (p.Gly1038=) c.3106+26A>G (n.3106+26A>G) c.3103+26A>G (n.3103+26A>G) c.2952A>G (p.Gly984=) c.3060A>G (p.Gly1020=) c.3042A>G (p.Gly1014=) c.2766A>G (p.Gly922=) n.3341A>G c.2934A>G (p.Gly978=) c.2748A>G (p.Gly916=) n.3344A>G c.3088+26A>G (n.3088+26A>G) c.3039A>G (p.Gly1013=) c.3105A>G (p.Gly1035=) c.3013+26A>G (n.3013+26A>G) c.3057A>G (p.Gly1019=) c.3016+26A>G (n.3016+26A>G) c.3031+26A>G (n.3031+26A>G) c.2922A>G (p.Gly974=) c.2921A>G (p.Asp974Gly) | |
16 | g.28836148A>T | CA494869056 | ATXN2L | c.3111A>T (p.Gly1037=) c.3085+26A>T (n.3085+26A>T) c.1086A>T (p.Gly362=) n.3485A>T c.280+26A>T (n.280+26A>T) c.3129A>T (p.Gly1043=) c.2175A>T (n.2175A>T) c.354+26A>T c.1089A>T (p.Gly363=) c.3132A>T (p.Gly1044=) c.3114A>T (p.Gly1038=) c.3106+26A>T (n.3106+26A>T) c.3103+26A>T (n.3103+26A>T) c.2952A>T (p.Gly984=) c.3060A>T (p.Gly1020=) c.3042A>T (p.Gly1014=) c.2766A>T (p.Gly922=) n.3341A>T c.2934A>T (p.Gly978=) c.2748A>T (p.Gly916=) n.3344A>T c.3088+26A>T (n.3088+26A>T) c.3039A>T (p.Gly1013=) c.3105A>T (p.Gly1035=) c.3013+26A>T (n.3013+26A>T) c.3057A>T (p.Gly1019=) c.3016+26A>T (n.3016+26A>T) c.3031+26A>T (n.3031+26A>T) c.2922A>T (p.Gly974=) c.2921A>T (p.Asp974Val) | |
16 | g.28836149T>A | CA395410110 | ATXN2L | c.3112T>A (p.Phe1038Ile) c.3085+27T>A (n.3085+27T>A) c.1087T>A (p.Phe363Ile) n.3486T>A c.280+27T>A (n.280+27T>A) c.3130T>A (p.Phe1044Ile) c.2176T>A (n.2176T>A) c.354+27T>A c.1090T>A (p.Phe364Ile) c.3133T>A (p.Phe1045Ile) c.3115T>A (p.Phe1039Ile) c.3106+27T>A (n.3106+27T>A) c.3103+27T>A (n.3103+27T>A) c.2953T>A (p.Phe985Ile) c.3061T>A (p.Phe1021Ile) c.3043T>A (p.Phe1015Ile) c.2767T>A (p.Phe923Ile) n.3342T>A c.2935T>A (p.Phe979Ile) c.2749T>A (p.Phe917Ile) n.3345T>A c.3088+27T>A (n.3088+27T>A) c.3040T>A (p.Phe1014Ile) c.3106T>A (p.Phe1036Ile) c.3013+27T>A (n.3013+27T>A) c.3058T>A (p.Phe1020Ile) c.3016+27T>A (n.3016+27T>A) c.3031+27T>A (n.3031+27T>A) c.2923T>A (p.Phe975Ile) c.2922T>A (p.Asp974Glu) | |
16 | g.28836149T>C | CA395410111 | ATXN2L | c.3112T>C (p.Phe1038Leu) c.3085+27T>C (n.3085+27T>C) c.1087T>C (p.Phe363Leu) n.3486T>C c.280+27T>C (n.280+27T>C) c.3130T>C (p.Phe1044Leu) c.2176T>C (n.2176T>C) c.354+27T>C c.1090T>C (p.Phe364Leu) c.3133T>C (p.Phe1045Leu) c.3115T>C (p.Phe1039Leu) c.3106+27T>C (n.3106+27T>C) c.3103+27T>C (n.3103+27T>C) c.2953T>C (p.Phe985Leu) c.3061T>C (p.Phe1021Leu) c.3043T>C (p.Phe1015Leu) c.2767T>C (p.Phe923Leu) n.3342T>C c.2935T>C (p.Phe979Leu) c.2749T>C (p.Phe917Leu) n.3345T>C c.3088+27T>C (n.3088+27T>C) c.3040T>C (p.Phe1014Leu) c.3106T>C (p.Phe1036Leu) c.3013+27T>C (n.3013+27T>C) c.3058T>C (p.Phe1020Leu) c.3016+27T>C (n.3016+27T>C) c.3031+27T>C (n.3031+27T>C) c.2923T>C (p.Phe975Leu) c.2922T>C (p.Asp974=) | |
16 | g.28836149T>G | CA395410113 | ATXN2L | c.3112T>G (p.Phe1038Val) c.3085+27T>G (n.3085+27T>G) c.1087T>G (p.Phe363Val) n.3486T>G c.280+27T>G (n.280+27T>G) c.3130T>G (p.Phe1044Val) c.2176T>G (n.2176T>G) c.354+27T>G c.1090T>G (p.Phe364Val) c.3133T>G (p.Phe1045Val) c.3115T>G (p.Phe1039Val) c.3106+27T>G (n.3106+27T>G) c.3103+27T>G (n.3103+27T>G) c.2953T>G (p.Phe985Val) c.3061T>G (p.Phe1021Val) c.3043T>G (p.Phe1015Val) c.2767T>G (p.Phe923Val) n.3342T>G c.2935T>G (p.Phe979Val) c.2749T>G (p.Phe917Val) n.3345T>G c.3088+27T>G (n.3088+27T>G) c.3040T>G (p.Phe1014Val) c.3106T>G (p.Phe1036Val) c.3013+27T>G (n.3013+27T>G) c.3058T>G (p.Phe1020Val) c.3016+27T>G (n.3016+27T>G) c.3031+27T>G (n.3031+27T>G) c.2923T>G (p.Phe975Val) c.2922T>G (p.Asp974Glu) | |
16 | g.28836150T>A | CA395410116 | ATXN2L | c.3113T>A (p.Phe1038Tyr) c.3085+28T>A (n.3085+28T>A) c.1088T>A (p.Phe363Tyr) n.3487T>A c.280+28T>A (n.280+28T>A) c.3131T>A (p.Phe1044Tyr) c.2177T>A (n.2177T>A) c.354+28T>A c.1091T>A (p.Phe364Tyr) c.3134T>A (p.Phe1045Tyr) c.3116T>A (p.Phe1039Tyr) c.3106+28T>A (n.3106+28T>A) c.3103+28T>A (n.3103+28T>A) c.2954T>A (p.Phe985Tyr) c.3062T>A (p.Phe1021Tyr) c.3044T>A (p.Phe1015Tyr) c.2768T>A (p.Phe923Tyr) n.3343T>A c.2936T>A (p.Phe979Tyr) c.2750T>A (p.Phe917Tyr) n.3346T>A c.3088+28T>A (n.3088+28T>A) c.3041T>A (p.Phe1014Tyr) c.3107T>A (p.Phe1036Tyr) c.3013+28T>A (n.3013+28T>A) c.3059T>A (p.Phe1020Tyr) c.3016+28T>A (n.3016+28T>A) c.3031+28T>A (n.3031+28T>A) c.2924T>A (p.Phe975Tyr) c.2923T>A (p.Phe975Ile) | |
16 | g.28836150T>C | CA395410117 | ATXN2L | c.3113T>C (p.Phe1038Ser) c.3085+28T>C (n.3085+28T>C) c.1088T>C (p.Phe363Ser) n.3487T>C c.280+28T>C (n.280+28T>C) c.3131T>C (p.Phe1044Ser) c.2177T>C (n.2177T>C) c.354+28T>C c.1091T>C (p.Phe364Ser) c.3134T>C (p.Phe1045Ser) c.3116T>C (p.Phe1039Ser) c.3106+28T>C (n.3106+28T>C) c.3103+28T>C (n.3103+28T>C) c.2954T>C (p.Phe985Ser) c.3062T>C (p.Phe1021Ser) c.3044T>C (p.Phe1015Ser) c.2768T>C (p.Phe923Ser) n.3343T>C c.2936T>C (p.Phe979Ser) c.2750T>C (p.Phe917Ser) n.3346T>C c.3088+28T>C (n.3088+28T>C) c.3041T>C (p.Phe1014Ser) c.3107T>C (p.Phe1036Ser) c.3013+28T>C (n.3013+28T>C) c.3059T>C (p.Phe1020Ser) c.3016+28T>C (n.3016+28T>C) c.3031+28T>C (n.3031+28T>C) c.2924T>C (p.Phe975Ser) c.2923T>C (p.Phe975Leu) | |
16 | g.28836150T>G | CA395410119 | ATXN2L | c.3113T>G (p.Phe1038Cys) c.3085+28T>G (n.3085+28T>G) c.1088T>G (p.Phe363Cys) n.3487T>G c.280+28T>G (n.280+28T>G) c.3131T>G (p.Phe1044Cys) c.2177T>G (n.2177T>G) c.354+28T>G c.1091T>G (p.Phe364Cys) c.3134T>G (p.Phe1045Cys) c.3116T>G (p.Phe1039Cys) c.3106+28T>G (n.3106+28T>G) c.3103+28T>G (n.3103+28T>G) c.2954T>G (p.Phe985Cys) c.3062T>G (p.Phe1021Cys) c.3044T>G (p.Phe1015Cys) c.2768T>G (p.Phe923Cys) n.3343T>G c.2936T>G (p.Phe979Cys) c.2750T>G (p.Phe917Cys) n.3346T>G c.3088+28T>G (n.3088+28T>G) c.3041T>G (p.Phe1014Cys) c.3107T>G (p.Phe1036Cys) c.3013+28T>G (n.3013+28T>G) c.3059T>G (p.Phe1020Cys) c.3016+28T>G (n.3016+28T>G) c.3031+28T>G (n.3031+28T>G) c.2924T>G (p.Phe975Cys) c.2923T>G (p.Phe975Val) | |
16 | g.28836151T>A | CA395410123 | ATXN2L | c.3114T>A (p.Phe1038Leu) c.3085+29T>A (n.3085+29T>A) c.1089T>A (p.Phe363Leu) n.3488T>A c.280+29T>A (n.280+29T>A) c.3132T>A (p.Phe1044Leu) c.2178T>A (n.2178T>A) c.354+29T>A c.1092T>A (p.Phe364Leu) c.3135T>A (p.Phe1045Leu) c.3117T>A (p.Phe1039Leu) c.3106+29T>A (n.3106+29T>A) c.3103+29T>A (n.3103+29T>A) c.2955T>A (p.Phe985Leu) c.3063T>A (p.Phe1021Leu) c.3045T>A (p.Phe1015Leu) c.2769T>A (p.Phe923Leu) n.3344T>A c.2937T>A (p.Phe979Leu) c.2751T>A (p.Phe917Leu) n.3347T>A c.3088+29T>A (n.3088+29T>A) c.3042T>A (p.Phe1014Leu) c.3108T>A (p.Phe1036Leu) c.3013+29T>A (n.3013+29T>A) c.3060T>A (p.Phe1020Leu) c.3016+29T>A (n.3016+29T>A) c.3031+29T>A (n.3031+29T>A) c.2925T>A (p.Phe975Leu) c.2924T>A (p.Phe975Tyr) | |
16 | g.28836151T>C | CA7985181 | ATXN2L | c.3114T>C (p.Phe1038=) c.3085+29T>C (n.3085+29T>C) c.1089T>C (p.Phe363=) n.3488T>C c.280+29T>C (n.280+29T>C) c.3132T>C (p.Phe1044=) c.2178T>C (n.2178T>C) c.354+29T>C c.1092T>C (p.Phe364=) c.3135T>C (p.Phe1045=) c.3117T>C (p.Phe1039=) c.3106+29T>C (n.3106+29T>C) c.3103+29T>C (n.3103+29T>C) c.2955T>C (p.Phe985=) c.3063T>C (p.Phe1021=) c.3045T>C (p.Phe1015=) c.2769T>C (p.Phe923=) n.3344T>C c.2937T>C (p.Phe979=) c.2751T>C (p.Phe917=) n.3347T>C c.3088+29T>C (n.3088+29T>C) c.3042T>C (p.Phe1014=) c.3108T>C (p.Phe1036=) c.3013+29T>C (n.3013+29T>C) c.3060T>C (p.Phe1020=) c.3016+29T>C (n.3016+29T>C) c.3031+29T>C (n.3031+29T>C) c.2925T>C (p.Phe975=) c.2924T>C (p.Phe975Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836151T>G | CA395410122 | ATXN2L | c.3114T>G (p.Phe1038Leu) c.3085+29T>G (n.3085+29T>G) c.1089T>G (p.Phe363Leu) n.3488T>G c.280+29T>G (n.280+29T>G) c.3132T>G (p.Phe1044Leu) c.2178T>G (n.2178T>G) c.354+29T>G c.1092T>G (p.Phe364Leu) c.3135T>G (p.Phe1045Leu) c.3117T>G (p.Phe1039Leu) c.3106+29T>G (n.3106+29T>G) c.3103+29T>G (n.3103+29T>G) c.2955T>G (p.Phe985Leu) c.3063T>G (p.Phe1021Leu) c.3045T>G (p.Phe1015Leu) c.2769T>G (p.Phe923Leu) n.3344T>G c.2937T>G (p.Phe979Leu) c.2751T>G (p.Phe917Leu) n.3347T>G c.3088+29T>G (n.3088+29T>G) c.3042T>G (p.Phe1014Leu) c.3108T>G (p.Phe1036Leu) c.3013+29T>G (n.3013+29T>G) c.3060T>G (p.Phe1020Leu) c.3016+29T>G (n.3016+29T>G) c.3031+29T>G (n.3031+29T>G) c.2925T>G (p.Phe975Leu) c.2924T>G (p.Phe975Cys) | |
16 | g.28836151T= | CA2215807022 | ATXN2L | c.3114T= (p.Phe1038=) c.3085+29T= (n.3085+29T=) c.1089T= (p.Phe363=) n.3488T= c.280+29T= (n.280+29T=) c.3132T= (p.Phe1044=) c.2178T= (n.2178T=) c.354+29T= c.1092T= (p.Phe364=) c.3135T= (p.Phe1045=) c.3117T= (p.Phe1039=) c.3106+29T= (n.3106+29T=) c.3103+29T= (n.3103+29T=) c.2955T= (p.Phe985=) c.3063T= (p.Phe1021=) c.3045T= (p.Phe1015=) c.2769T= (p.Phe923=) n.3344T= c.2937T= (p.Phe979=) c.2751T= (p.Phe917=) n.3347T= c.3088+29T= (n.3088+29T=) c.3042T= (p.Phe1014=) c.3108T= (p.Phe1036=) c.3013+29T= (n.3013+29T=) c.3060T= (p.Phe1020=) c.3016+29T= (n.3016+29T=) c.3031+29T= (n.3031+29T=) c.2925T= (p.Phe975=) c.2924T= (p.Phe975=) | |
16 | g.28836152C>A | CA395410126 | ATXN2L | c.3115C>A (p.Pro1039Thr) c.3085+30C>A (n.3085+30C>A) c.1090C>A (p.Pro364Thr) n.3489C>A c.280+30C>A (n.280+30C>A) c.3133C>A (p.Pro1045Thr) c.2179C>A (n.2179C>A) c.354+30C>A c.1093C>A (p.Pro365Thr) c.3136C>A (p.Pro1046Thr) c.3118C>A (p.Pro1040Thr) c.3106+30C>A (n.3106+30C>A) c.3103+30C>A (n.3103+30C>A) c.2956C>A (p.Pro986Thr) c.3064C>A (p.Pro1022Thr) c.3046C>A (p.Pro1016Thr) c.2770C>A (p.Pro924Thr) n.3345C>A c.2938C>A (p.Pro980Thr) c.2752C>A (p.Pro918Thr) n.3348C>A c.3088+30C>A (n.3088+30C>A) c.3043C>A (p.Pro1015Thr) c.3109C>A (p.Pro1037Thr) c.3013+30C>A (n.3013+30C>A) c.3061C>A (p.Pro1021Thr) c.3016+30C>A (n.3016+30C>A) c.3031+30C>A (n.3031+30C>A) c.2926C>A (p.Pro976Thr) c.2925C>A (p.Phe975Leu) | |
16 | g.28836152C>G | CA395410128 | ATXN2L | c.3115C>G (p.Pro1039Ala) c.3085+30C>G (n.3085+30C>G) c.1090C>G (p.Pro364Ala) n.3489C>G c.280+30C>G (n.280+30C>G) c.3133C>G (p.Pro1045Ala) c.2179C>G (n.2179C>G) c.354+30C>G c.1093C>G (p.Pro365Ala) c.3136C>G (p.Pro1046Ala) c.3118C>G (p.Pro1040Ala) c.3106+30C>G (n.3106+30C>G) c.3103+30C>G (n.3103+30C>G) c.2956C>G (p.Pro986Ala) c.3064C>G (p.Pro1022Ala) c.3046C>G (p.Pro1016Ala) c.2770C>G (p.Pro924Ala) n.3345C>G c.2938C>G (p.Pro980Ala) c.2752C>G (p.Pro918Ala) n.3348C>G c.3088+30C>G (n.3088+30C>G) c.3043C>G (p.Pro1015Ala) c.3109C>G (p.Pro1037Ala) c.3013+30C>G (n.3013+30C>G) c.3061C>G (p.Pro1021Ala) c.3016+30C>G (n.3016+30C>G) c.3031+30C>G (n.3031+30C>G) c.2926C>G (p.Pro976Ala) c.2925C>G (p.Phe975Leu) | |
16 | g.28836152C>T | CA395410130 | ATXN2L | c.3115C>T (p.Pro1039Ser) c.3085+30C>T (n.3085+30C>T) c.1090C>T (p.Pro364Ser) n.3489C>T c.280+30C>T (n.280+30C>T) c.3133C>T (p.Pro1045Ser) c.2179C>T (n.2179C>T) c.354+30C>T c.1093C>T (p.Pro365Ser) c.3136C>T (p.Pro1046Ser) c.3118C>T (p.Pro1040Ser) c.3106+30C>T (n.3106+30C>T) c.3103+30C>T (n.3103+30C>T) c.2956C>T (p.Pro986Ser) c.3064C>T (p.Pro1022Ser) c.3046C>T (p.Pro1016Ser) c.2770C>T (p.Pro924Ser) n.3345C>T c.2938C>T (p.Pro980Ser) c.2752C>T (p.Pro918Ser) n.3348C>T c.3088+30C>T (n.3088+30C>T) c.3043C>T (p.Pro1015Ser) c.3109C>T (p.Pro1037Ser) c.3013+30C>T (n.3013+30C>T) c.3061C>T (p.Pro1021Ser) c.3016+30C>T (n.3016+30C>T) c.3031+30C>T (n.3031+30C>T) c.2926C>T (p.Pro976Ser) c.2925C>T (p.Phe975=) | |
16 | g.28836153C>A | CA395410132 | ATXN2L | c.3116C>A (p.Pro1039Gln) c.3085+31C>A (n.3085+31C>A) c.1091C>A (p.Pro364Gln) n.3490C>A c.280+31C>A (n.280+31C>A) c.3134C>A (p.Pro1045Gln) c.2180C>A (n.2180C>A) c.354+31C>A c.1094C>A (p.Pro365Gln) c.3137C>A (p.Pro1046Gln) c.3119C>A (p.Pro1040Gln) c.3106+31C>A (n.3106+31C>A) c.3103+31C>A (n.3103+31C>A) c.2957C>A (p.Pro986Gln) c.3065C>A (p.Pro1022Gln) c.3047C>A (p.Pro1016Gln) c.2771C>A (p.Pro924Gln) n.3346C>A c.2939C>A (p.Pro980Gln) c.2753C>A (p.Pro918Gln) n.3349C>A c.3088+31C>A (n.3088+31C>A) c.3044C>A (p.Pro1015Gln) c.3110C>A (p.Pro1037Gln) c.3013+31C>A (n.3013+31C>A) c.3062C>A (p.Pro1021Gln) c.3016+31C>A (n.3016+31C>A) c.3031+31C>A (n.3031+31C>A) c.2927C>A (p.Pro976Gln) c.2926C>A (p.Gln976Lys) | |
16 | g.28836153C>G | CA395410133 | ATXN2L | c.3116C>G (p.Pro1039Arg) c.3085+31C>G (n.3085+31C>G) c.1091C>G (p.Pro364Arg) n.3490C>G c.280+31C>G (n.280+31C>G) c.3134C>G (p.Pro1045Arg) c.2180C>G (n.2180C>G) c.354+31C>G c.1094C>G (p.Pro365Arg) c.3137C>G (p.Pro1046Arg) c.3119C>G (p.Pro1040Arg) c.3106+31C>G (n.3106+31C>G) c.3103+31C>G (n.3103+31C>G) c.2957C>G (p.Pro986Arg) c.3065C>G (p.Pro1022Arg) c.3047C>G (p.Pro1016Arg) c.2771C>G (p.Pro924Arg) n.3346C>G c.2939C>G (p.Pro980Arg) c.2753C>G (p.Pro918Arg) n.3349C>G c.3088+31C>G (n.3088+31C>G) c.3044C>G (p.Pro1015Arg) c.3110C>G (p.Pro1037Arg) c.3013+31C>G (n.3013+31C>G) c.3062C>G (p.Pro1021Arg) c.3016+31C>G (n.3016+31C>G) c.3031+31C>G (n.3031+31C>G) c.2927C>G (p.Pro976Arg) c.2926C>G (p.Gln976Glu) | |
16 | g.28836153C>T | CA395410135 | ATXN2L | c.3116C>T (p.Pro1039Leu) c.3085+31C>T (n.3085+31C>T) c.1091C>T (p.Pro364Leu) n.3490C>T c.280+31C>T (n.280+31C>T) c.3134C>T (p.Pro1045Leu) c.2180C>T (n.2180C>T) c.354+31C>T c.1094C>T (p.Pro365Leu) c.3137C>T (p.Pro1046Leu) c.3119C>T (p.Pro1040Leu) c.3106+31C>T (n.3106+31C>T) c.3103+31C>T (n.3103+31C>T) c.2957C>T (p.Pro986Leu) c.3065C>T (p.Pro1022Leu) c.3047C>T (p.Pro1016Leu) c.2771C>T (p.Pro924Leu) n.3346C>T c.2939C>T (p.Pro980Leu) c.2753C>T (p.Pro918Leu) n.3349C>T c.3088+31C>T (n.3088+31C>T) c.3044C>T (p.Pro1015Leu) c.3110C>T (p.Pro1037Leu) c.3013+31C>T (n.3013+31C>T) c.3062C>T (p.Pro1021Leu) c.3016+31C>T (n.3016+31C>T) c.3031+31C>T (n.3031+31C>T) c.2927C>T (p.Pro976Leu) c.2926C>T (p.Gln976Ter) | |
16 | g.28836154A>C | CA494869114 | ATXN2L | c.3117A>C (p.Pro1039=) c.3085+32A>C (n.3085+32A>C) c.1092A>C (p.Pro364=) n.3491A>C c.280+32A>C (n.280+32A>C) c.3135A>C (p.Pro1045=) c.2181A>C (n.2181A>C) c.354+32A>C c.1095A>C (p.Pro365=) c.3138A>C (p.Pro1046=) c.3120A>C (p.Pro1040=) c.3106+32A>C (n.3106+32A>C) c.3103+32A>C (n.3103+32A>C) c.2958A>C (p.Pro986=) c.3066A>C (p.Pro1022=) c.3048A>C (p.Pro1016=) c.2772A>C (p.Pro924=) n.3347A>C c.2940A>C (p.Pro980=) c.2754A>C (p.Pro918=) n.3350A>C c.3088+32A>C (n.3088+32A>C) c.3045A>C (p.Pro1015=) c.3111A>C (p.Pro1037=) c.3013+32A>C (n.3013+32A>C) c.3063A>C (p.Pro1021=) c.3016+32A>C (n.3016+32A>C) c.3031+32A>C (n.3031+32A>C) c.2928A>C (p.Pro976=) c.2927A>C (p.Gln976Pro) | |
16 | g.28836154A>G | CA494869116 | ATXN2L | c.3117A>G (p.Pro1039=) c.3085+32A>G (n.3085+32A>G) c.1092A>G (p.Pro364=) n.3491A>G c.280+32A>G (n.280+32A>G) c.3135A>G (p.Pro1045=) c.2181A>G (n.2181A>G) c.354+32A>G c.1095A>G (p.Pro365=) c.3138A>G (p.Pro1046=) c.3120A>G (p.Pro1040=) c.3106+32A>G (n.3106+32A>G) c.3103+32A>G (n.3103+32A>G) c.2958A>G (p.Pro986=) c.3066A>G (p.Pro1022=) c.3048A>G (p.Pro1016=) c.2772A>G (p.Pro924=) n.3347A>G c.2940A>G (p.Pro980=) c.2754A>G (p.Pro918=) n.3350A>G c.3088+32A>G (n.3088+32A>G) c.3045A>G (p.Pro1015=) c.3111A>G (p.Pro1037=) c.3013+32A>G (n.3013+32A>G) c.3063A>G (p.Pro1021=) c.3016+32A>G (n.3016+32A>G) c.3031+32A>G (n.3031+32A>G) c.2928A>G (p.Pro976=) c.2927A>G (p.Gln976Arg) | gnomAD v4 |
16 | g.28836154A>T | CA494869118 | ATXN2L | c.3117A>T (p.Pro1039=) c.3085+32A>T (n.3085+32A>T) c.1092A>T (p.Pro364=) n.3491A>T c.280+32A>T (n.280+32A>T) c.3135A>T (p.Pro1045=) c.2181A>T (n.2181A>T) c.354+32A>T c.1095A>T (p.Pro365=) c.3138A>T (p.Pro1046=) c.3120A>T (p.Pro1040=) c.3106+32A>T (n.3106+32A>T) c.3103+32A>T (n.3103+32A>T) c.2958A>T (p.Pro986=) c.3066A>T (p.Pro1022=) c.3048A>T (p.Pro1016=) c.2772A>T (p.Pro924=) n.3347A>T c.2940A>T (p.Pro980=) c.2754A>T (p.Pro918=) n.3350A>T c.3088+32A>T (n.3088+32A>T) c.3045A>T (p.Pro1015=) c.3111A>T (p.Pro1037=) c.3013+32A>T (n.3013+32A>T) c.3063A>T (p.Pro1021=) c.3016+32A>T (n.3016+32A>T) c.3031+32A>T (n.3031+32A>T) c.2928A>T (p.Pro976=) c.2927A>T (p.Gln976Leu) | |
16 | g.28836155G>A | CA395410137 | ATXN2L | c.3118G>A (p.Gly1040Arg) c.3085+33G>A (n.3085+33G>A) c.1093G>A (p.Gly365Arg) n.3492G>A c.280+33G>A (n.280+33G>A) c.3136G>A (p.Gly1046Arg) c.2182G>A (n.2182G>A) c.354+33G>A c.1096G>A (p.Gly366Arg) c.3139G>A (p.Gly1047Arg) c.3121G>A (p.Gly1041Arg) c.3106+33G>A (n.3106+33G>A) c.3103+33G>A (n.3103+33G>A) c.2959G>A (p.Gly987Arg) c.3067G>A (p.Gly1023Arg) c.3049G>A (p.Gly1017Arg) c.2773G>A (p.Gly925Arg) n.3348G>A c.2941G>A (p.Gly981Arg) c.2755G>A (p.Gly919Arg) n.3351G>A c.3088+33G>A (n.3088+33G>A) c.3046G>A (p.Gly1016Arg) c.3112G>A (p.Gly1038Arg) c.3013+33G>A (n.3013+33G>A) c.3064G>A (p.Gly1022Arg) c.3016+33G>A (n.3016+33G>A) c.3031+33G>A (n.3031+33G>A) c.2929G>A (p.Gly977Arg) c.2928G>A (p.Gln976=) | |
16 | g.28836155G>C | CA395410141 | ATXN2L | c.3118G>C (p.Gly1040Arg) c.3085+33G>C (n.3085+33G>C) c.1093G>C (p.Gly365Arg) n.3492G>C c.280+33G>C (n.280+33G>C) c.3136G>C (p.Gly1046Arg) c.2182G>C (n.2182G>C) c.354+33G>C c.1096G>C (p.Gly366Arg) c.3139G>C (p.Gly1047Arg) c.3121G>C (p.Gly1041Arg) c.3106+33G>C (n.3106+33G>C) c.3103+33G>C (n.3103+33G>C) c.2959G>C (p.Gly987Arg) c.3067G>C (p.Gly1023Arg) c.3049G>C (p.Gly1017Arg) c.2773G>C (p.Gly925Arg) n.3348G>C c.2941G>C (p.Gly981Arg) c.2755G>C (p.Gly919Arg) n.3351G>C c.3088+33G>C (n.3088+33G>C) c.3046G>C (p.Gly1016Arg) c.3112G>C (p.Gly1038Arg) c.3013+33G>C (n.3013+33G>C) c.3064G>C (p.Gly1022Arg) c.3016+33G>C (n.3016+33G>C) c.3031+33G>C (n.3031+33G>C) c.2929G>C (p.Gly977Arg) c.2928G>C (p.Gln976His) | |
16 | g.28836155G>T | CA395410139 | ATXN2L | c.3118G>T (p.Gly1040Ter) c.3085+33G>T (n.3085+33G>T) c.1093G>T (p.Gly365Ter) n.3492G>T c.280+33G>T (n.280+33G>T) c.3136G>T (p.Gly1046Ter) c.2182G>T (n.2182G>T) c.354+33G>T c.1096G>T (p.Gly366Ter) c.3139G>T (p.Gly1047Ter) c.3121G>T (p.Gly1041Ter) c.3106+33G>T (n.3106+33G>T) c.3103+33G>T (n.3103+33G>T) c.2959G>T (p.Gly987Ter) c.3067G>T (p.Gly1023Ter) c.3049G>T (p.Gly1017Ter) c.2773G>T (p.Gly925Ter) n.3348G>T c.2941G>T (p.Gly981Ter) c.2755G>T (p.Gly919Ter) n.3351G>T c.3088+33G>T (n.3088+33G>T) c.3046G>T (p.Gly1016Ter) c.3112G>T (p.Gly1038Ter) c.3013+33G>T (n.3013+33G>T) c.3064G>T (p.Gly1022Ter) c.3016+33G>T (n.3016+33G>T) c.3031+33G>T (n.3031+33G>T) c.2929G>T (p.Gly977Ter) c.2928G>T (p.Gln976His) | |
16 | g.28836156G>A | CA7985182 | ATXN2L | c.3119G>A (p.Gly1040Glu) c.3085+34G>A (n.3085+34G>A) c.1094G>A (p.Gly365Glu) n.3493G>A c.280+34G>A (n.280+34G>A) c.3137G>A (p.Gly1046Glu) c.2183G>A (n.2183G>A) c.354+34G>A c.1097G>A (p.Gly366Glu) c.3140G>A (p.Gly1047Glu) c.3122G>A (p.Gly1041Glu) c.3106+34G>A (n.3106+34G>A) c.3103+34G>A (n.3103+34G>A) c.2960G>A (p.Gly987Glu) c.3068G>A (p.Gly1023Glu) c.3050G>A (p.Gly1017Glu) c.2774G>A (p.Gly925Glu) n.3349G>A c.2942G>A (p.Gly981Glu) c.2756G>A (p.Gly919Glu) n.3352G>A c.3088+34G>A (n.3088+34G>A) c.3047G>A (p.Gly1016Glu) c.3113G>A (p.Gly1038Glu) c.3013+34G>A (n.3013+34G>A) c.3065G>A (p.Gly1022Glu) c.3016+34G>A (n.3016+34G>A) c.3031+34G>A (n.3031+34G>A) c.2930G>A (p.Gly977Glu) c.2929G>A (p.Glu977Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28836156G>C | CA395410144 | ATXN2L | c.3119G>C (p.Gly1040Ala) c.3085+34G>C (n.3085+34G>C) c.1094G>C (p.Gly365Ala) n.3493G>C c.280+34G>C (n.280+34G>C) c.3137G>C (p.Gly1046Ala) c.2183G>C (n.2183G>C) c.354+34G>C c.1097G>C (p.Gly366Ala) c.3140G>C (p.Gly1047Ala) c.3122G>C (p.Gly1041Ala) c.3106+34G>C (n.3106+34G>C) c.3103+34G>C (n.3103+34G>C) c.2960G>C (p.Gly987Ala) c.3068G>C (p.Gly1023Ala) c.3050G>C (p.Gly1017Ala) c.2774G>C (p.Gly925Ala) n.3349G>C c.2942G>C (p.Gly981Ala) c.2756G>C (p.Gly919Ala) n.3352G>C c.3088+34G>C (n.3088+34G>C) c.3047G>C (p.Gly1016Ala) c.3113G>C (p.Gly1038Ala) c.3013+34G>C (n.3013+34G>C) c.3065G>C (p.Gly1022Ala) c.3016+34G>C (n.3016+34G>C) c.3031+34G>C (n.3031+34G>C) c.2930G>C (p.Gly977Ala) c.2929G>C (p.Glu977Gln) | |
16 | g.28836156G= | CA2215807033 | ATXN2L | c.3119G= (p.Gly1040=) c.3085+34G= (n.3085+34G=) c.1094G= (p.Gly365=) n.3493G= c.280+34G= (n.280+34G=) c.3137G= (p.Gly1046=) c.2183G= (n.2183G=) c.354+34G= c.1097G= (p.Gly366=) c.3140G= (p.Gly1047=) c.3122G= (p.Gly1041=) c.3106+34G= (n.3106+34G=) c.3103+34G= (n.3103+34G=) c.2960G= (p.Gly987=) c.3068G= (p.Gly1023=) c.3050G= (p.Gly1017=) c.2774G= (p.Gly925=) n.3349G= c.2942G= (p.Gly981=) c.2756G= (p.Gly919=) n.3352G= c.3088+34G= (n.3088+34G=) c.3047G= (p.Gly1016=) c.3113G= (p.Gly1038=) c.3013+34G= (n.3013+34G=) c.3065G= (p.Gly1022=) c.3016+34G= (n.3016+34G=) c.3031+34G= (n.3031+34G=) c.2930G= (p.Gly977=) c.2929G= (p.Glu977=) | |
16 | g.28836156G>T | CA395410146 | ATXN2L | c.3119G>T (p.Gly1040Val) c.3085+34G>T (n.3085+34G>T) c.1094G>T (p.Gly365Val) n.3493G>T c.280+34G>T (n.280+34G>T) c.3137G>T (p.Gly1046Val) c.2183G>T (n.2183G>T) c.354+34G>T c.1097G>T (p.Gly366Val) c.3140G>T (p.Gly1047Val) c.3122G>T (p.Gly1041Val) c.3106+34G>T (n.3106+34G>T) c.3103+34G>T (n.3103+34G>T) c.2960G>T (p.Gly987Val) c.3068G>T (p.Gly1023Val) c.3050G>T (p.Gly1017Val) c.2774G>T (p.Gly925Val) n.3349G>T c.2942G>T (p.Gly981Val) c.2756G>T (p.Gly919Val) n.3352G>T c.3088+34G>T (n.3088+34G>T) c.3047G>T (p.Gly1016Val) c.3113G>T (p.Gly1038Val) c.3013+34G>T (n.3013+34G>T) c.3065G>T (p.Gly1022Val) c.3016+34G>T (n.3016+34G>T) c.3031+34G>T (n.3031+34G>T) c.2930G>T (p.Gly977Val) c.2929G>T (p.Glu977Ter) | |
16 | g.28836157A= | CA2215807038 | ATXN2L | c.3120A= (p.Gly1040=) c.3085+35A= (n.3085+35A=) c.1095A= (p.Gly365=) n.3494A= c.280+35A= (n.280+35A=) c.3138A= (p.Gly1046=) c.2184A= (n.2184A=) c.354+35A= c.1098A= (p.Gly366=) c.3141A= (p.Gly1047=) c.3123A= (p.Gly1041=) c.3106+35A= (n.3106+35A=) c.3103+35A= (n.3103+35A=) c.2961A= (p.Gly987=) c.3069A= (p.Gly1023=) c.3051A= (p.Gly1017=) c.2775A= (p.Gly925=) n.3350A= c.2943A= (p.Gly981=) c.2757A= (p.Gly919=) n.3353A= c.3088+35A= (n.3088+35A=) c.3048A= (p.Gly1016=) c.3114A= (p.Gly1038=) c.3013+35A= (n.3013+35A=) c.3066A= (p.Gly1022=) c.3016+35A= (n.3016+35A=) c.3031+35A= (n.3031+35A=) c.2931A= (p.Gly977=) c.2930A= (p.Glu977=) | |
16 | g.28836157A>C | CA494869161 | ATXN2L | c.3120A>C (p.Gly1040=) c.3085+35A>C (n.3085+35A>C) c.1095A>C (p.Gly365=) n.3494A>C c.280+35A>C (n.280+35A>C) c.3138A>C (p.Gly1046=) c.2184A>C (n.2184A>C) c.354+35A>C c.1098A>C (p.Gly366=) c.3141A>C (p.Gly1047=) c.3123A>C (p.Gly1041=) c.3106+35A>C (n.3106+35A>C) c.3103+35A>C (n.3103+35A>C) c.2961A>C (p.Gly987=) c.3069A>C (p.Gly1023=) c.3051A>C (p.Gly1017=) c.2775A>C (p.Gly925=) n.3350A>C c.2943A>C (p.Gly981=) c.2757A>C (p.Gly919=) n.3353A>C c.3088+35A>C (n.3088+35A>C) c.3048A>C (p.Gly1016=) c.3114A>C (p.Gly1038=) c.3013+35A>C (n.3013+35A>C) c.3066A>C (p.Gly1022=) c.3016+35A>C (n.3016+35A>C) c.3031+35A>C (n.3031+35A>C) c.2931A>C (p.Gly977=) c.2930A>C (p.Glu977Ala) | gnomAD v4 |
16 | g.28836157A>G | CA7985183 | ATXN2L | c.3120A>G (p.Gly1040=) c.3085+35A>G (n.3085+35A>G) c.1095A>G (p.Gly365=) n.3494A>G c.280+35A>G (n.280+35A>G) c.3138A>G (p.Gly1046=) c.2184A>G (n.2184A>G) c.354+35A>G c.1098A>G (p.Gly366=) c.3141A>G (p.Gly1047=) c.3123A>G (p.Gly1041=) c.3106+35A>G (n.3106+35A>G) c.3103+35A>G (n.3103+35A>G) c.2961A>G (p.Gly987=) c.3069A>G (p.Gly1023=) c.3051A>G (p.Gly1017=) c.2775A>G (p.Gly925=) n.3350A>G c.2943A>G (p.Gly981=) c.2757A>G (p.Gly919=) n.3353A>G c.3088+35A>G (n.3088+35A>G) c.3048A>G (p.Gly1016=) c.3114A>G (p.Gly1038=) c.3013+35A>G (n.3013+35A>G) c.3066A>G (p.Gly1022=) c.3016+35A>G (n.3016+35A>G) c.3031+35A>G (n.3031+35A>G) c.2931A>G (p.Gly977=) c.2930A>G (p.Glu977Gly) | dbSNP ExAC gnomAD v2 |
16 | g.28836157A>T | CA494869154 | ATXN2L | c.3120A>T (p.Gly1040=) c.3085+35A>T (n.3085+35A>T) c.1095A>T (p.Gly365=) n.3494A>T c.280+35A>T (n.280+35A>T) c.3138A>T (p.Gly1046=) c.2184A>T (n.2184A>T) c.354+35A>T c.1098A>T (p.Gly366=) c.3141A>T (p.Gly1047=) c.3123A>T (p.Gly1041=) c.3106+35A>T (n.3106+35A>T) c.3103+35A>T (n.3103+35A>T) c.2961A>T (p.Gly987=) c.3069A>T (p.Gly1023=) c.3051A>T (p.Gly1017=) c.2775A>T (p.Gly925=) n.3350A>T c.2943A>T (p.Gly981=) c.2757A>T (p.Gly919=) n.3353A>T c.3088+35A>T (n.3088+35A>T) c.3048A>T (p.Gly1016=) c.3114A>T (p.Gly1038=) c.3013+35A>T (n.3013+35A>T) c.3066A>T (p.Gly1022=) c.3016+35A>T (n.3016+35A>T) c.3031+35A>T (n.3031+35A>T) c.2931A>T (p.Gly977=) c.2930A>T (p.Glu977Val) | |
16 | g.28836158G>A | CA395410149 | ATXN2L | c.3121G>A (p.Gly1041Arg) c.3085+36G>A (n.3085+36G>A) c.1096G>A (p.Gly366Arg) n.3495G>A c.280+36G>A (n.280+36G>A) c.3139G>A (p.Gly1047Arg) c.2185G>A (n.2185G>A) c.354+36G>A c.1099G>A (p.Gly367Arg) c.3142G>A (p.Gly1048Arg) c.3124G>A (p.Gly1042Arg) c.3106+36G>A (n.3106+36G>A) c.3103+36G>A (n.3103+36G>A) c.2962G>A (p.Gly988Arg) c.3070G>A (p.Gly1024Arg) c.3052G>A (p.Gly1018Arg) c.2776G>A (p.Gly926Arg) n.3351G>A c.2944G>A (p.Gly982Arg) c.2758G>A (p.Gly920Arg) n.3354G>A c.3088+36G>A (n.3088+36G>A) c.3049G>A (p.Gly1017Arg) c.3115G>A (p.Gly1039Arg) c.3013+36G>A (n.3013+36G>A) c.3067G>A (p.Gly1023Arg) c.3016+36G>A (n.3016+36G>A) c.3031+36G>A (n.3031+36G>A) c.2932G>A (p.Gly978Arg) c.2931G>A (p.Glu977=) | |
16 | g.28836158G>C | CA395410151 | ATXN2L | c.3121G>C (p.Gly1041Arg) c.3085+36G>C (n.3085+36G>C) c.1096G>C (p.Gly366Arg) n.3495G>C c.280+36G>C (n.280+36G>C) c.3139G>C (p.Gly1047Arg) c.2185G>C (n.2185G>C) c.354+36G>C c.1099G>C (p.Gly367Arg) c.3142G>C (p.Gly1048Arg) c.3124G>C (p.Gly1042Arg) c.3106+36G>C (n.3106+36G>C) c.3103+36G>C (n.3103+36G>C) c.2962G>C (p.Gly988Arg) c.3070G>C (p.Gly1024Arg) c.3052G>C (p.Gly1018Arg) c.2776G>C (p.Gly926Arg) n.3351G>C c.2944G>C (p.Gly982Arg) c.2758G>C (p.Gly920Arg) n.3354G>C c.3088+36G>C (n.3088+36G>C) c.3049G>C (p.Gly1017Arg) c.3115G>C (p.Gly1039Arg) c.3013+36G>C (n.3013+36G>C) c.3067G>C (p.Gly1023Arg) c.3016+36G>C (n.3016+36G>C) c.3031+36G>C (n.3031+36G>C) c.2932G>C (p.Gly978Arg) c.2931G>C (p.Glu977Asp) | |
16 | g.28836158G>T | CA395410150 | ATXN2L | c.3121G>T (p.Gly1041Ter) c.3085+36G>T (n.3085+36G>T) c.1096G>T (p.Gly366Ter) n.3495G>T c.280+36G>T (n.280+36G>T) c.3139G>T (p.Gly1047Ter) c.2185G>T (n.2185G>T) c.354+36G>T c.1099G>T (p.Gly367Ter) c.3142G>T (p.Gly1048Ter) c.3124G>T (p.Gly1042Ter) c.3106+36G>T (n.3106+36G>T) c.3103+36G>T (n.3103+36G>T) c.2962G>T (p.Gly988Ter) c.3070G>T (p.Gly1024Ter) c.3052G>T (p.Gly1018Ter) c.2776G>T (p.Gly926Ter) n.3351G>T c.2944G>T (p.Gly982Ter) c.2758G>T (p.Gly920Ter) n.3354G>T c.3088+36G>T (n.3088+36G>T) c.3049G>T (p.Gly1017Ter) c.3115G>T (p.Gly1039Ter) c.3013+36G>T (n.3013+36G>T) c.3067G>T (p.Gly1023Ter) c.3016+36G>T (n.3016+36G>T) c.3031+36G>T (n.3031+36G>T) c.2932G>T (p.Gly978Ter) c.2931G>T (p.Glu977Asp) | |
16 | g.28836159G>A | CA395410154 | ATXN2L | c.3122G>A (p.Gly1041Glu) c.3085+37G>A (n.3085+37G>A) c.1097G>A (p.Gly366Glu) n.3496G>A c.280+37G>A (n.280+37G>A) c.3140G>A (p.Gly1047Glu) c.2186G>A (n.2186G>A) c.354+37G>A c.1100G>A (p.Gly367Glu) c.3143G>A (p.Gly1048Glu) c.3125G>A (p.Gly1042Glu) c.3106+37G>A (n.3106+37G>A) c.3103+37G>A (n.3103+37G>A) c.2963G>A (p.Gly988Glu) c.3071G>A (p.Gly1024Glu) c.3053G>A (p.Gly1018Glu) c.2777G>A (p.Gly926Glu) n.3352G>A c.2945G>A (p.Gly982Glu) c.2759G>A (p.Gly920Glu) n.3355G>A c.3088+37G>A (n.3088+37G>A) c.3050G>A (p.Gly1017Glu) c.3116G>A (p.Gly1039Glu) c.3013+37G>A (n.3013+37G>A) c.3068G>A (p.Gly1023Glu) c.3016+37G>A (n.3016+37G>A) c.3031+37G>A (n.3031+37G>A) c.2933G>A (p.Gly978Glu) c.2932G>A (p.Glu978Lys) | |
16 | g.28836159G>C | CA395410158 | ATXN2L | c.3122G>C (p.Gly1041Ala) c.3085+37G>C (n.3085+37G>C) c.1097G>C (p.Gly366Ala) n.3496G>C c.280+37G>C (n.280+37G>C) c.3140G>C (p.Gly1047Ala) c.2186G>C (n.2186G>C) c.354+37G>C c.1100G>C (p.Gly367Ala) c.3143G>C (p.Gly1048Ala) c.3125G>C (p.Gly1042Ala) c.3106+37G>C (n.3106+37G>C) c.3103+37G>C (n.3103+37G>C) c.2963G>C (p.Gly988Ala) c.3071G>C (p.Gly1024Ala) c.3053G>C (p.Gly1018Ala) c.2777G>C (p.Gly926Ala) n.3352G>C c.2945G>C (p.Gly982Ala) c.2759G>C (p.Gly920Ala) n.3355G>C c.3088+37G>C (n.3088+37G>C) c.3050G>C (p.Gly1017Ala) c.3116G>C (p.Gly1039Ala) c.3013+37G>C (n.3013+37G>C) c.3068G>C (p.Gly1023Ala) c.3016+37G>C (n.3016+37G>C) c.3031+37G>C (n.3031+37G>C) c.2933G>C (p.Gly978Ala) c.2932G>C (p.Glu978Gln) | |
16 | g.28836159G>T | CA395410156 | ATXN2L | c.3122G>T (p.Gly1041Val) c.3085+37G>T (n.3085+37G>T) c.1097G>T (p.Gly366Val) n.3496G>T c.280+37G>T (n.280+37G>T) c.3140G>T (p.Gly1047Val) c.2186G>T (n.2186G>T) c.354+37G>T c.1100G>T (p.Gly367Val) c.3143G>T (p.Gly1048Val) c.3125G>T (p.Gly1042Val) c.3106+37G>T (n.3106+37G>T) c.3103+37G>T (n.3103+37G>T) c.2963G>T (p.Gly988Val) c.3071G>T (p.Gly1024Val) c.3053G>T (p.Gly1018Val) c.2777G>T (p.Gly926Val) n.3352G>T c.2945G>T (p.Gly982Val) c.2759G>T (p.Gly920Val) n.3355G>T c.3088+37G>T (n.3088+37G>T) c.3050G>T (p.Gly1017Val) c.3116G>T (p.Gly1039Val) c.3013+37G>T (n.3013+37G>T) c.3068G>T (p.Gly1023Val) c.3016+37G>T (n.3016+37G>T) c.3031+37G>T (n.3031+37G>T) c.2933G>T (p.Gly978Val) c.2932G>T (p.Glu978Ter) | |
16 | g.28836160A>C | CA494869173 | ATXN2L | c.3123A>C (p.Gly1041=) c.3085+38A>C (n.3085+38A>C) c.1098A>C (p.Gly366=) n.3497A>C c.280+38A>C (n.280+38A>C) c.3141A>C (p.Gly1047=) c.2187A>C (n.2187A>C) c.354+38A>C c.1101A>C (p.Gly367=) c.3144A>C (p.Gly1048=) c.3126A>C (p.Gly1042=) c.3106+38A>C (n.3106+38A>C) c.3103+38A>C (n.3103+38A>C) c.2964A>C (p.Gly988=) c.3072A>C (p.Gly1024=) c.3054A>C (p.Gly1018=) c.2778A>C (p.Gly926=) n.3353A>C c.2946A>C (p.Gly982=) c.2760A>C (p.Gly920=) n.3356A>C c.3088+38A>C (n.3088+38A>C) c.3051A>C (p.Gly1017=) c.3117A>C (p.Gly1039=) c.3013+38A>C (n.3013+38A>C) c.3069A>C (p.Gly1023=) c.3016+38A>C (n.3016+38A>C) c.3031+38A>C (n.3031+38A>C) c.2934A>C (p.Gly978=) c.2933A>C (p.Glu978Ala) | |
16 | g.28836160A>G | CA494869174 | ATXN2L | c.3123A>G (p.Gly1041=) c.3085+38A>G (n.3085+38A>G) c.1098A>G (p.Gly366=) n.3497A>G c.280+38A>G (n.280+38A>G) c.3141A>G (p.Gly1047=) c.2187A>G (n.2187A>G) c.354+38A>G c.1101A>G (p.Gly367=) c.3144A>G (p.Gly1048=) c.3126A>G (p.Gly1042=) c.3106+38A>G (n.3106+38A>G) c.3103+38A>G (n.3103+38A>G) c.2964A>G (p.Gly988=) c.3072A>G (p.Gly1024=) c.3054A>G (p.Gly1018=) c.2778A>G (p.Gly926=) n.3353A>G c.2946A>G (p.Gly982=) c.2760A>G (p.Gly920=) n.3356A>G c.3088+38A>G (n.3088+38A>G) c.3051A>G (p.Gly1017=) c.3117A>G (p.Gly1039=) c.3013+38A>G (n.3013+38A>G) c.3069A>G (p.Gly1023=) c.3016+38A>G (n.3016+38A>G) c.3031+38A>G (n.3031+38A>G) c.2934A>G (p.Gly978=) c.2933A>G (p.Glu978Gly) | |
16 | g.28836160A>T | CA494869175 | ATXN2L | c.3123A>T (p.Gly1041=) c.3085+38A>T (n.3085+38A>T) c.1098A>T (p.Gly366=) n.3497A>T c.280+38A>T (n.280+38A>T) c.3141A>T (p.Gly1047=) c.2187A>T (n.2187A>T) c.354+38A>T c.1101A>T (p.Gly367=) c.3144A>T (p.Gly1048=) c.3126A>T (p.Gly1042=) c.3106+38A>T (n.3106+38A>T) c.3103+38A>T (n.3103+38A>T) c.2964A>T (p.Gly988=) c.3072A>T (p.Gly1024=) c.3054A>T (p.Gly1018=) c.2778A>T (p.Gly926=) n.3353A>T c.2946A>T (p.Gly982=) c.2760A>T (p.Gly920=) n.3356A>T c.3088+38A>T (n.3088+38A>T) c.3051A>T (p.Gly1017=) c.3117A>T (p.Gly1039=) c.3013+38A>T (n.3013+38A>T) c.3069A>T (p.Gly1023=) c.3016+38A>T (n.3016+38A>T) c.3031+38A>T (n.3031+38A>T) c.2934A>T (p.Gly978=) c.2933A>T (p.Glu978Val) | |
16 | g.28836161G>A | CA395410160 | ATXN2L | c.3124G>A (p.Ala1042Thr) c.3085+39G>A (n.3085+39G>A) c.1099G>A (p.Ala367Thr) n.3498G>A c.280+39G>A (n.280+39G>A) c.3142G>A (p.Ala1048Thr) c.2188G>A (n.2188G>A) c.354+39G>A c.1102G>A (p.Ala368Thr) c.3145G>A (p.Ala1049Thr) c.3127G>A (p.Ala1043Thr) c.3106+39G>A (n.3106+39G>A) c.3103+39G>A (n.3103+39G>A) c.2965G>A (p.Ala989Thr) c.3073G>A (p.Ala1025Thr) c.3055G>A (p.Ala1019Thr) c.2779G>A (p.Ala927Thr) n.3354G>A c.2947G>A (p.Ala983Thr) c.2761G>A (p.Ala921Thr) n.3357G>A c.3088+39G>A (n.3088+39G>A) c.3052G>A (p.Ala1018Thr) c.3118G>A (p.Ala1040Thr) c.3013+39G>A (n.3013+39G>A) c.3070G>A (p.Ala1024Thr) c.3016+39G>A (n.3016+39G>A) c.3031+39G>A (n.3031+39G>A) c.2935G>A (p.Ala979Thr) c.2934G>A (p.Glu978=) | gnomAD v4 |
16 | g.28836161G>C | CA395410161 | ATXN2L | c.3124G>C (p.Ala1042Pro) c.3085+39G>C (n.3085+39G>C) c.1099G>C (p.Ala367Pro) n.3498G>C c.280+39G>C (n.280+39G>C) c.3142G>C (p.Ala1048Pro) c.2188G>C (n.2188G>C) c.354+39G>C c.1102G>C (p.Ala368Pro) c.3145G>C (p.Ala1049Pro) c.3127G>C (p.Ala1043Pro) c.3106+39G>C (n.3106+39G>C) c.3103+39G>C (n.3103+39G>C) c.2965G>C (p.Ala989Pro) c.3073G>C (p.Ala1025Pro) c.3055G>C (p.Ala1019Pro) c.2779G>C (p.Ala927Pro) n.3354G>C c.2947G>C (p.Ala983Pro) c.2761G>C (p.Ala921Pro) n.3357G>C c.3088+39G>C (n.3088+39G>C) c.3052G>C (p.Ala1018Pro) c.3118G>C (p.Ala1040Pro) c.3013+39G>C (n.3013+39G>C) c.3070G>C (p.Ala1024Pro) c.3016+39G>C (n.3016+39G>C) c.3031+39G>C (n.3031+39G>C) c.2935G>C (p.Ala979Pro) c.2934G>C (p.Glu978Asp) | |
16 | g.28836161G= | CA2215807042 | ATXN2L | c.3124G= (p.Ala1042=) c.3085+39G= (n.3085+39G=) c.1099G= (p.Ala367=) n.3498G= c.280+39G= (n.280+39G=) c.3142G= (p.Ala1048=) c.2188G= (n.2188G=) c.354+39G= c.1102G= (p.Ala368=) c.3145G= (p.Ala1049=) c.3127G= (p.Ala1043=) c.3106+39G= (n.3106+39G=) c.3103+39G= (n.3103+39G=) c.2965G= (p.Ala989=) c.3073G= (p.Ala1025=) c.3055G= (p.Ala1019=) c.2779G= (p.Ala927=) n.3354G= c.2947G= (p.Ala983=) c.2761G= (p.Ala921=) n.3357G= c.3088+39G= (n.3088+39G=) c.3052G= (p.Ala1018=) c.3118G= (p.Ala1040=) c.3013+39G= (n.3013+39G=) c.3070G= (p.Ala1024=) c.3016+39G= (n.3016+39G=) c.3031+39G= (n.3031+39G=) c.2935G= (p.Ala979=) c.2934G= (p.Glu978=) | |
16 | g.28836161G>T | CA7985184 | ATXN2L | c.3124G>T (p.Ala1042Ser) c.3085+39G>T (n.3085+39G>T) c.1099G>T (p.Ala367Ser) n.3498G>T c.280+39G>T (n.280+39G>T) c.3142G>T (p.Ala1048Ser) c.2188G>T (n.2188G>T) c.354+39G>T c.1102G>T (p.Ala368Ser) c.3145G>T (p.Ala1049Ser) c.3127G>T (p.Ala1043Ser) c.3106+39G>T (n.3106+39G>T) c.3103+39G>T (n.3103+39G>T) c.2965G>T (p.Ala989Ser) c.3073G>T (p.Ala1025Ser) c.3055G>T (p.Ala1019Ser) c.2779G>T (p.Ala927Ser) n.3354G>T c.2947G>T (p.Ala983Ser) c.2761G>T (p.Ala921Ser) n.3357G>T c.3088+39G>T (n.3088+39G>T) c.3052G>T (p.Ala1018Ser) c.3118G>T (p.Ala1040Ser) c.3013+39G>T (n.3013+39G>T) c.3070G>T (p.Ala1024Ser) c.3016+39G>T (n.3016+39G>T) c.3031+39G>T (n.3031+39G>T) c.2935G>T (p.Ala979Ser) c.2934G>T (p.Glu978Asp) | dbSNP ExAC gnomAD v2 |
16 | g.28836162C>A | CA395410165 | ATXN2L | c.3125C>A (p.Ala1042Asp) c.3085+40C>A (n.3085+40C>A) c.1100C>A (p.Ala367Asp) n.3499C>A c.280+40C>A (n.280+40C>A) c.3143C>A (p.Ala1048Asp) c.2189C>A (n.2189C>A) c.354+40C>A c.1103C>A (p.Ala368Asp) c.3146C>A (p.Ala1049Asp) c.3128C>A (p.Ala1043Asp) c.3106+40C>A (n.3106+40C>A) c.3103+40C>A (n.3103+40C>A) c.2966C>A (p.Ala989Asp) c.3074C>A (p.Ala1025Asp) c.3056C>A (p.Ala1019Asp) c.2780C>A (p.Ala927Asp) n.3355C>A c.2948C>A (p.Ala983Asp) c.2762C>A (p.Ala921Asp) n.3358C>A c.3088+40C>A (n.3088+40C>A) c.3053C>A (p.Ala1018Asp) c.3119C>A (p.Ala1040Asp) c.3013+40C>A (n.3013+40C>A) c.3071C>A (p.Ala1024Asp) c.3016+40C>A (n.3016+40C>A) c.3031+40C>A (n.3031+40C>A) c.2936C>A (p.Ala979Asp) c.2935C>A (p.Pro979Thr) | |
16 | g.28836162C= | CA2215807047 | ATXN2L | c.3125C= (p.Ala1042=) c.3085+40C= (n.3085+40C=) c.1100C= (p.Ala367=) n.3499C= c.280+40C= (n.280+40C=) c.3143C= (p.Ala1048=) c.2189C= (n.2189C=) c.354+40C= c.1103C= (p.Ala368=) c.3146C= (p.Ala1049=) c.3128C= (p.Ala1043=) c.3106+40C= (n.3106+40C=) c.3103+40C= (n.3103+40C=) c.2966C= (p.Ala989=) c.3074C= (p.Ala1025=) c.3056C= (p.Ala1019=) c.2780C= (p.Ala927=) n.3355C= c.2948C= (p.Ala983=) c.2762C= (p.Ala921=) n.3358C= c.3088+40C= (n.3088+40C=) c.3053C= (p.Ala1018=) c.3119C= (p.Ala1040=) c.3013+40C= (n.3013+40C=) c.3071C= (p.Ala1024=) c.3016+40C= (n.3016+40C=) c.3031+40C= (n.3031+40C=) c.2936C= (p.Ala979=) c.2935C= (p.Pro979=) | |
16 | g.28836162C>G | CA395410166 | ATXN2L | c.3125C>G (p.Ala1042Gly) c.3085+40C>G (n.3085+40C>G) c.1100C>G (p.Ala367Gly) n.3499C>G c.280+40C>G (n.280+40C>G) c.3143C>G (p.Ala1048Gly) c.2189C>G (n.2189C>G) c.354+40C>G c.1103C>G (p.Ala368Gly) c.3146C>G (p.Ala1049Gly) c.3128C>G (p.Ala1043Gly) c.3106+40C>G (n.3106+40C>G) c.3103+40C>G (n.3103+40C>G) c.2966C>G (p.Ala989Gly) c.3074C>G (p.Ala1025Gly) c.3056C>G (p.Ala1019Gly) c.2780C>G (p.Ala927Gly) n.3355C>G c.2948C>G (p.Ala983Gly) c.2762C>G (p.Ala921Gly) n.3358C>G c.3088+40C>G (n.3088+40C>G) c.3053C>G (p.Ala1018Gly) c.3119C>G (p.Ala1040Gly) c.3013+40C>G (n.3013+40C>G) c.3071C>G (p.Ala1024Gly) c.3016+40C>G (n.3016+40C>G) c.3031+40C>G (n.3031+40C>G) c.2936C>G (p.Ala979Gly) c.2935C>G (p.Pro979Ala) | dbSNP |
16 | g.28836162C>T | CA395410168 | ATXN2L | c.3125C>T (p.Ala1042Val) c.3085+40C>T (n.3085+40C>T) c.1100C>T (p.Ala367Val) n.3499C>T c.280+40C>T (n.280+40C>T) c.3143C>T (p.Ala1048Val) c.2189C>T (n.2189C>T) c.354+40C>T c.1103C>T (p.Ala368Val) c.3146C>T (p.Ala1049Val) c.3128C>T (p.Ala1043Val) c.3106+40C>T (n.3106+40C>T) c.3103+40C>T (n.3103+40C>T) c.2966C>T (p.Ala989Val) c.3074C>T (p.Ala1025Val) c.3056C>T (p.Ala1019Val) c.2780C>T (p.Ala927Val) n.3355C>T c.2948C>T (p.Ala983Val) c.2762C>T (p.Ala921Val) n.3358C>T c.3088+40C>T (n.3088+40C>T) c.3053C>T (p.Ala1018Val) c.3119C>T (p.Ala1040Val) c.3013+40C>T (n.3013+40C>T) c.3071C>T (p.Ala1024Val) c.3016+40C>T (n.3016+40C>T) c.3031+40C>T (n.3031+40C>T) c.2936C>T (p.Ala979Val) c.2935C>T (p.Pro979Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836163C>A | CA494869185 | ATXN2L | c.3126C>A (p.Ala1042=) c.3085+41C>A (n.3085+41C>A) c.1101C>A (p.Ala367=) n.3500C>A c.280+41C>A (n.280+41C>A) c.3144C>A (p.Ala1048=) c.2190C>A (n.2190C>A) c.354+41C>A c.1104C>A (p.Ala368=) c.3147C>A (p.Ala1049=) c.3129C>A (p.Ala1043=) c.3106+41C>A (n.3106+41C>A) c.3103+41C>A (n.3103+41C>A) c.2967C>A (p.Ala989=) c.3075C>A (p.Ala1025=) c.3057C>A (p.Ala1019=) c.2781C>A (p.Ala927=) n.3356C>A c.2949C>A (p.Ala983=) c.2763C>A (p.Ala921=) n.3359C>A c.3088+41C>A (n.3088+41C>A) c.3054C>A (p.Ala1018=) c.3120C>A (p.Ala1040=) c.3013+41C>A (n.3013+41C>A) c.3072C>A (p.Ala1024=) c.3016+41C>A (n.3016+41C>A) c.3031+41C>A (n.3031+41C>A) c.2937C>A (p.Ala979=) c.2936C>A (p.Pro979Gln) | |
16 | g.28836163C= | CA2215807051 | ATXN2L | c.3126C= (p.Ala1042=) c.3085+41C= (n.3085+41C=) c.1101C= (p.Ala367=) n.3500C= c.280+41C= (n.280+41C=) c.3144C= (p.Ala1048=) c.2190C= (n.2190C=) c.354+41C= c.1104C= (p.Ala368=) c.3147C= (p.Ala1049=) c.3129C= (p.Ala1043=) c.3106+41C= (n.3106+41C=) c.3103+41C= (n.3103+41C=) c.2967C= (p.Ala989=) c.3075C= (p.Ala1025=) c.3057C= (p.Ala1019=) c.2781C= (p.Ala927=) n.3356C= c.2949C= (p.Ala983=) c.2763C= (p.Ala921=) n.3359C= c.3088+41C= (n.3088+41C=) c.3054C= (p.Ala1018=) c.3120C= (p.Ala1040=) c.3013+41C= (n.3013+41C=) c.3072C= (p.Ala1024=) c.3016+41C= (n.3016+41C=) c.3031+41C= (n.3031+41C=) c.2937C= (p.Ala979=) c.2936C= (p.Pro979=) | |
16 | g.28836163C>G | CA494869189 | ATXN2L | c.3126C>G (p.Ala1042=) c.3085+41C>G (n.3085+41C>G) c.1101C>G (p.Ala367=) n.3500C>G c.280+41C>G (n.280+41C>G) c.3144C>G (p.Ala1048=) c.2190C>G (n.2190C>G) c.354+41C>G c.1104C>G (p.Ala368=) c.3147C>G (p.Ala1049=) c.3129C>G (p.Ala1043=) c.3106+41C>G (n.3106+41C>G) c.3103+41C>G (n.3103+41C>G) c.2967C>G (p.Ala989=) c.3075C>G (p.Ala1025=) c.3057C>G (p.Ala1019=) c.2781C>G (p.Ala927=) n.3356C>G c.2949C>G (p.Ala983=) c.2763C>G (p.Ala921=) n.3359C>G c.3088+41C>G (n.3088+41C>G) c.3054C>G (p.Ala1018=) c.3120C>G (p.Ala1040=) c.3013+41C>G (n.3013+41C>G) c.3072C>G (p.Ala1024=) c.3016+41C>G (n.3016+41C>G) c.3031+41C>G (n.3031+41C>G) c.2937C>G (p.Ala979=) c.2936C>G (p.Pro979Arg) | |
16 | g.28836163C>T | CA494869197 | ATXN2L | c.3126C>T (p.Ala1042=) c.3085+41C>T (n.3085+41C>T) c.1101C>T (p.Ala367=) n.3500C>T c.280+41C>T (n.280+41C>T) c.3144C>T (p.Ala1048=) c.2190C>T (n.2190C>T) c.354+41C>T c.1104C>T (p.Ala368=) c.3147C>T (p.Ala1049=) c.3129C>T (p.Ala1043=) c.3106+41C>T (n.3106+41C>T) c.3103+41C>T (n.3103+41C>T) c.2967C>T (p.Ala989=) c.3075C>T (p.Ala1025=) c.3057C>T (p.Ala1019=) c.2781C>T (p.Ala927=) n.3356C>T c.2949C>T (p.Ala983=) c.2763C>T (p.Ala921=) n.3359C>T c.3088+41C>T (n.3088+41C>T) c.3054C>T (p.Ala1018=) c.3120C>T (p.Ala1040=) c.3013+41C>T (n.3013+41C>T) c.3072C>T (p.Ala1024=) c.3016+41C>T (n.3016+41C>T) c.3031+41C>T (n.3031+41C>T) c.2937C>T (p.Ala979=) c.2936C>T (p.Pro979Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
16 | g.28836164G>A | CA7985185 | ATXN2L | c.3127G>A (p.Asp1043Asn) c.3085+42G>A (n.3085+42G>A) c.1102G>A (p.Asp368Asn) n.3501G>A c.280+42G>A (n.280+42G>A) c.3145G>A (p.Asp1049Asn) c.2191G>A (n.2191G>A) c.354+42G>A c.1105G>A (p.Asp369Asn) c.3148G>A (p.Asp1050Asn) c.3130G>A (p.Asp1044Asn) c.3106+42G>A (n.3106+42G>A) c.3103+42G>A (n.3103+42G>A) c.2968G>A (p.Asp990Asn) c.3076G>A (p.Asp1026Asn) c.3058G>A (p.Asp1020Asn) c.2782G>A (p.Asp928Asn) n.3357G>A c.2950G>A (p.Asp984Asn) c.2764G>A (p.Asp922Asn) n.3360G>A c.3088+42G>A (n.3088+42G>A) c.3055G>A (p.Asp1019Asn) c.3121G>A (p.Asp1041Asn) c.3013+42G>A (n.3013+42G>A) c.3073G>A (p.Asp1025Asn) c.3016+42G>A (n.3016+42G>A) c.3031+42G>A (n.3031+42G>A) c.2938G>A (p.Asp980Asn) c.2937G>A (p.Pro979=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836164G>C | CA395410172 | ATXN2L | c.3127G>C (p.Asp1043His) c.3085+42G>C (n.3085+42G>C) c.1102G>C (p.Asp368His) n.3501G>C c.280+42G>C (n.280+42G>C) c.3145G>C (p.Asp1049His) c.2191G>C (n.2191G>C) c.354+42G>C c.1105G>C (p.Asp369His) c.3148G>C (p.Asp1050His) c.3130G>C (p.Asp1044His) c.3106+42G>C (n.3106+42G>C) c.3103+42G>C (n.3103+42G>C) c.2968G>C (p.Asp990His) c.3076G>C (p.Asp1026His) c.3058G>C (p.Asp1020His) c.2782G>C (p.Asp928His) n.3357G>C c.2950G>C (p.Asp984His) c.2764G>C (p.Asp922His) n.3360G>C c.3088+42G>C (n.3088+42G>C) c.3055G>C (p.Asp1019His) c.3121G>C (p.Asp1041His) c.3013+42G>C (n.3013+42G>C) c.3073G>C (p.Asp1025His) c.3016+42G>C (n.3016+42G>C) c.3031+42G>C (n.3031+42G>C) c.2938G>C (p.Asp980His) c.2937G>C (p.Pro979=) | |
16 | g.28836164G= | CA2215807053 | ATXN2L | c.3127G= (p.Asp1043=) c.3085+42G= (n.3085+42G=) c.1102G= (p.Asp368=) n.3501G= c.280+42G= (n.280+42G=) c.3145G= (p.Asp1049=) c.2191G= (n.2191G=) c.354+42G= c.1105G= (p.Asp369=) c.3148G= (p.Asp1050=) c.3130G= (p.Asp1044=) c.3106+42G= (n.3106+42G=) c.3103+42G= (n.3103+42G=) c.2968G= (p.Asp990=) c.3076G= (p.Asp1026=) c.3058G= (p.Asp1020=) c.2782G= (p.Asp928=) n.3357G= c.2950G= (p.Asp984=) c.2764G= (p.Asp922=) n.3360G= c.3088+42G= (n.3088+42G=) c.3055G= (p.Asp1019=) c.3121G= (p.Asp1041=) c.3013+42G= (n.3013+42G=) c.3073G= (p.Asp1025=) c.3016+42G= (n.3016+42G=) c.3031+42G= (n.3031+42G=) c.2938G= (p.Asp980=) c.2937G= (p.Pro979=) | |
16 | g.28836164G>T | CA395410174 | ATXN2L | c.3127G>T (p.Asp1043Tyr) c.3085+42G>T (n.3085+42G>T) c.1102G>T (p.Asp368Tyr) n.3501G>T c.280+42G>T (n.280+42G>T) c.3145G>T (p.Asp1049Tyr) c.2191G>T (n.2191G>T) c.354+42G>T c.1105G>T (p.Asp369Tyr) c.3148G>T (p.Asp1050Tyr) c.3130G>T (p.Asp1044Tyr) c.3106+42G>T (n.3106+42G>T) c.3103+42G>T (n.3103+42G>T) c.2968G>T (p.Asp990Tyr) c.3076G>T (p.Asp1026Tyr) c.3058G>T (p.Asp1020Tyr) c.2782G>T (p.Asp928Tyr) n.3357G>T c.2950G>T (p.Asp984Tyr) c.2764G>T (p.Asp922Tyr) n.3360G>T c.3088+42G>T (n.3088+42G>T) c.3055G>T (p.Asp1019Tyr) c.3121G>T (p.Asp1041Tyr) c.3013+42G>T (n.3013+42G>T) c.3073G>T (p.Asp1025Tyr) c.3016+42G>T (n.3016+42G>T) c.3031+42G>T (n.3031+42G>T) c.2938G>T (p.Asp980Tyr) c.2937G>T (p.Pro979=) | |
16 | g.28836165A>C | CA395410177 | ATXN2L | c.3128A>C (p.Asp1043Ala) c.3085+43A>C (n.3085+43A>C) c.1103A>C (p.Asp368Ala) n.3502A>C c.280+43A>C (n.280+43A>C) c.3146A>C (p.Asp1049Ala) c.2192A>C (n.2192A>C) c.354+43A>C c.1106A>C (p.Asp369Ala) c.3149A>C (p.Asp1050Ala) c.3131A>C (p.Asp1044Ala) c.3106+43A>C (n.3106+43A>C) c.3103+43A>C (n.3103+43A>C) c.2969A>C (p.Asp990Ala) c.3077A>C (p.Asp1026Ala) c.3059A>C (p.Asp1020Ala) c.2783A>C (p.Asp928Ala) n.3358A>C c.2951A>C (p.Asp984Ala) c.2765A>C (p.Asp922Ala) n.3361A>C c.3088+43A>C (n.3088+43A>C) c.3056A>C (p.Asp1019Ala) c.3122A>C (p.Asp1041Ala) c.3013+43A>C (n.3013+43A>C) c.3074A>C (p.Asp1025Ala) c.3016+43A>C (n.3016+43A>C) c.3031+43A>C (n.3031+43A>C) c.2939A>C (p.Asp980Ala) c.2938A>C (p.Met980Leu) | |
16 | g.28836165A>G | CA395410183 | ATXN2L | c.3128A>G (p.Asp1043Gly) c.3085+43A>G (n.3085+43A>G) c.1103A>G (p.Asp368Gly) n.3502A>G c.280+43A>G (n.280+43A>G) c.3146A>G (p.Asp1049Gly) c.2192A>G (n.2192A>G) c.354+43A>G c.1106A>G (p.Asp369Gly) c.3149A>G (p.Asp1050Gly) c.3131A>G (p.Asp1044Gly) c.3106+43A>G (n.3106+43A>G) c.3103+43A>G (n.3103+43A>G) c.2969A>G (p.Asp990Gly) c.3077A>G (p.Asp1026Gly) c.3059A>G (p.Asp1020Gly) c.2783A>G (p.Asp928Gly) n.3358A>G c.2951A>G (p.Asp984Gly) c.2765A>G (p.Asp922Gly) n.3361A>G c.3088+43A>G (n.3088+43A>G) c.3056A>G (p.Asp1019Gly) c.3122A>G (p.Asp1041Gly) c.3013+43A>G (n.3013+43A>G) c.3074A>G (p.Asp1025Gly) c.3016+43A>G (n.3016+43A>G) c.3031+43A>G (n.3031+43A>G) c.2939A>G (p.Asp980Gly) c.2938A>G (p.Met980Val) | |
16 | g.28836165A>T | CA395410185 | ATXN2L | c.3128A>T (p.Asp1043Val) c.3085+43A>T (n.3085+43A>T) c.1103A>T (p.Asp368Val) n.3502A>T c.280+43A>T (n.280+43A>T) c.3146A>T (p.Asp1049Val) c.2192A>T (n.2192A>T) c.354+43A>T c.1106A>T (p.Asp369Val) c.3149A>T (p.Asp1050Val) c.3131A>T (p.Asp1044Val) c.3106+43A>T (n.3106+43A>T) c.3103+43A>T (n.3103+43A>T) c.2969A>T (p.Asp990Val) c.3077A>T (p.Asp1026Val) c.3059A>T (p.Asp1020Val) c.2783A>T (p.Asp928Val) n.3358A>T c.2951A>T (p.Asp984Val) c.2765A>T (p.Asp922Val) n.3361A>T c.3088+43A>T (n.3088+43A>T) c.3056A>T (p.Asp1019Val) c.3122A>T (p.Asp1041Val) c.3013+43A>T (n.3013+43A>T) c.3074A>T (p.Asp1025Val) c.3016+43A>T (n.3016+43A>T) c.3031+43A>T (n.3031+43A>T) c.2939A>T (p.Asp980Val) c.2938A>T (p.Met980Leu) | |
16 | g.28836166T>A | CA395410188 | ATXN2L | c.3129T>A (p.Asp1043Glu) c.3085+44T>A (n.3085+44T>A) c.1104T>A (p.Asp368Glu) n.3503T>A c.280+44T>A (n.280+44T>A) c.3147T>A (p.Asp1049Glu) c.2193T>A (n.2193T>A) c.354+44T>A c.1107T>A (p.Asp369Glu) c.3150T>A (p.Asp1050Glu) c.3132T>A (p.Asp1044Glu) c.3106+44T>A (n.3106+44T>A) c.3103+44T>A (n.3103+44T>A) c.2970T>A (p.Asp990Glu) c.3078T>A (p.Asp1026Glu) c.3060T>A (p.Asp1020Glu) c.2784T>A (p.Asp928Glu) n.3359T>A c.2952T>A (p.Asp984Glu) c.2766T>A (p.Asp922Glu) n.3362T>A c.3088+44T>A (n.3088+44T>A) c.3057T>A (p.Asp1019Glu) c.3123T>A (p.Asp1041Glu) c.3013+44T>A (n.3013+44T>A) c.3075T>A (p.Asp1025Glu) c.3016+44T>A (n.3016+44T>A) c.3031+44T>A (n.3031+44T>A) c.2940T>A (p.Asp980Glu) c.2939T>A (p.Met980Lys) | |
16 | g.28836166T>C | CA494869218 | ATXN2L | c.3129T>C (p.Asp1043=) c.3085+44T>C (n.3085+44T>C) c.1104T>C (p.Asp368=) n.3503T>C c.280+44T>C (n.280+44T>C) c.3147T>C (p.Asp1049=) c.2193T>C (n.2193T>C) c.354+44T>C c.1107T>C (p.Asp369=) c.3150T>C (p.Asp1050=) c.3132T>C (p.Asp1044=) c.3106+44T>C (n.3106+44T>C) c.3103+44T>C (n.3103+44T>C) c.2970T>C (p.Asp990=) c.3078T>C (p.Asp1026=) c.3060T>C (p.Asp1020=) c.2784T>C (p.Asp928=) n.3359T>C c.2952T>C (p.Asp984=) c.2766T>C (p.Asp922=) n.3362T>C c.3088+44T>C (n.3088+44T>C) c.3057T>C (p.Asp1019=) c.3123T>C (p.Asp1041=) c.3013+44T>C (n.3013+44T>C) c.3075T>C (p.Asp1025=) c.3016+44T>C (n.3016+44T>C) c.3031+44T>C (n.3031+44T>C) c.2940T>C (p.Asp980=) c.2939T>C (p.Met980Thr) | gnomAD v4 |
16 | g.28836166T>G | CA395410187 | ATXN2L | c.3129T>G (p.Asp1043Glu) c.3085+44T>G (n.3085+44T>G) c.1104T>G (p.Asp368Glu) n.3503T>G c.280+44T>G (n.280+44T>G) c.3147T>G (p.Asp1049Glu) c.2193T>G (n.2193T>G) c.354+44T>G c.1107T>G (p.Asp369Glu) c.3150T>G (p.Asp1050Glu) c.3132T>G (p.Asp1044Glu) c.3106+44T>G (n.3106+44T>G) c.3103+44T>G (n.3103+44T>G) c.2970T>G (p.Asp990Glu) c.3078T>G (p.Asp1026Glu) c.3060T>G (p.Asp1020Glu) c.2784T>G (p.Asp928Glu) n.3359T>G c.2952T>G (p.Asp984Glu) c.2766T>G (p.Asp922Glu) n.3362T>G c.3088+44T>G (n.3088+44T>G) c.3057T>G (p.Asp1019Glu) c.3123T>G (p.Asp1041Glu) c.3013+44T>G (n.3013+44T>G) c.3075T>G (p.Asp1025Glu) c.3016+44T>G (n.3016+44T>G) c.3031+44T>G (n.3031+44T>G) c.2940T>G (p.Asp980Glu) c.2939T>G (p.Met980Arg) | |
16 | g.28836167G>A | CA395410189 | ATXN2L | c.3130G>A (p.Asp1044Asn) c.3085+45G>A (n.3085+45G>A) c.1105G>A (p.Asp369Asn) n.3504G>A c.280+45G>A (n.280+45G>A) c.3148G>A (p.Asp1050Asn) c.2194G>A (n.2194G>A) c.354+45G>A c.1108G>A (p.Asp370Asn) c.3151G>A (p.Asp1051Asn) c.3133G>A (p.Asp1045Asn) c.3106+45G>A (n.3106+45G>A) c.3103+45G>A (n.3103+45G>A) c.2971G>A (p.Asp991Asn) c.3079G>A (p.Asp1027Asn) c.3061G>A (p.Asp1021Asn) c.2785G>A (p.Asp929Asn) n.3360G>A c.2953G>A (p.Asp985Asn) c.2767G>A (p.Asp923Asn) n.3363G>A c.3088+45G>A (n.3088+45G>A) c.3058G>A (p.Asp1020Asn) c.3124G>A (p.Asp1042Asn) c.3013+45G>A (n.3013+45G>A) c.3076G>A (p.Asp1026Asn) c.3016+45G>A (n.3016+45G>A) c.3031+45G>A (n.3031+45G>A) c.2941G>A (p.Asp981Asn) c.2940G>A (p.Met980Ile) | |
16 | g.28836167G>C | CA395410191 | ATXN2L | c.3130G>C (p.Asp1044His) c.3085+45G>C (n.3085+45G>C) c.1105G>C (p.Asp369His) n.3504G>C c.280+45G>C (n.280+45G>C) c.3148G>C (p.Asp1050His) c.2194G>C (n.2194G>C) c.354+45G>C c.1108G>C (p.Asp370His) c.3151G>C (p.Asp1051His) c.3133G>C (p.Asp1045His) c.3106+45G>C (n.3106+45G>C) c.3103+45G>C (n.3103+45G>C) c.2971G>C (p.Asp991His) c.3079G>C (p.Asp1027His) c.3061G>C (p.Asp1021His) c.2785G>C (p.Asp929His) n.3360G>C c.2953G>C (p.Asp985His) c.2767G>C (p.Asp923His) n.3363G>C c.3088+45G>C (n.3088+45G>C) c.3058G>C (p.Asp1020His) c.3124G>C (p.Asp1042His) c.3013+45G>C (n.3013+45G>C) c.3076G>C (p.Asp1026His) c.3016+45G>C (n.3016+45G>C) c.3031+45G>C (n.3031+45G>C) c.2941G>C (p.Asp981His) c.2940G>C (p.Met980Ile) | |
16 | g.28836167G>T | CA395410192 | ATXN2L | c.3130G>T (p.Asp1044Tyr) c.3085+45G>T (n.3085+45G>T) c.1105G>T (p.Asp369Tyr) n.3504G>T c.280+45G>T (n.280+45G>T) c.3148G>T (p.Asp1050Tyr) c.2194G>T (n.2194G>T) c.354+45G>T c.1108G>T (p.Asp370Tyr) c.3151G>T (p.Asp1051Tyr) c.3133G>T (p.Asp1045Tyr) c.3106+45G>T (n.3106+45G>T) c.3103+45G>T (n.3103+45G>T) c.2971G>T (p.Asp991Tyr) c.3079G>T (p.Asp1027Tyr) c.3061G>T (p.Asp1021Tyr) c.2785G>T (p.Asp929Tyr) n.3360G>T c.2953G>T (p.Asp985Tyr) c.2767G>T (p.Asp923Tyr) n.3363G>T c.3088+45G>T (n.3088+45G>T) c.3058G>T (p.Asp1020Tyr) c.3124G>T (p.Asp1042Tyr) c.3013+45G>T (n.3013+45G>T) c.3076G>T (p.Asp1026Tyr) c.3016+45G>T (n.3016+45G>T) c.3031+45G>T (n.3031+45G>T) c.2941G>T (p.Asp981Tyr) c.2940G>T (p.Met980Ile) | |
16 | g.28836168A>C | CA395410195 | ATXN2L | c.3131A>C (p.Asp1044Ala) c.3085+46A>C (n.3085+46A>C) c.1106A>C (p.Asp369Ala) n.3505A>C c.280+46A>C (n.280+46A>C) c.3149A>C (p.Asp1050Ala) c.2195A>C (n.2195A>C) c.354+46A>C c.1109A>C (p.Asp370Ala) c.3152A>C (p.Asp1051Ala) c.3134A>C (p.Asp1045Ala) c.3106+46A>C (n.3106+46A>C) c.3103+46A>C (n.3103+46A>C) c.2972A>C (p.Asp991Ala) c.3080A>C (p.Asp1027Ala) c.3062A>C (p.Asp1021Ala) c.2786A>C (p.Asp929Ala) n.3361A>C c.2954A>C (p.Asp985Ala) c.2768A>C (p.Asp923Ala) n.3364A>C c.3088+46A>C (n.3088+46A>C) c.3059A>C (p.Asp1020Ala) c.3125A>C (p.Asp1042Ala) c.3013+46A>C (n.3013+46A>C) c.3077A>C (p.Asp1026Ala) c.3016+46A>C (n.3016+46A>C) c.3031+46A>C (n.3031+46A>C) c.2942A>C (p.Asp981Ala) c.2941A>C (p.Thr981Pro) | |
16 | g.28836168A>G | CA395410197 | ATXN2L | c.3131A>G (p.Asp1044Gly) c.3085+46A>G (n.3085+46A>G) c.1106A>G (p.Asp369Gly) n.3505A>G c.280+46A>G (n.280+46A>G) c.3149A>G (p.Asp1050Gly) c.2195A>G (n.2195A>G) c.354+46A>G c.1109A>G (p.Asp370Gly) c.3152A>G (p.Asp1051Gly) c.3134A>G (p.Asp1045Gly) c.3106+46A>G (n.3106+46A>G) c.3103+46A>G (n.3103+46A>G) c.2972A>G (p.Asp991Gly) c.3080A>G (p.Asp1027Gly) c.3062A>G (p.Asp1021Gly) c.2786A>G (p.Asp929Gly) n.3361A>G c.2954A>G (p.Asp985Gly) c.2768A>G (p.Asp923Gly) n.3364A>G c.3088+46A>G (n.3088+46A>G) c.3059A>G (p.Asp1020Gly) c.3125A>G (p.Asp1042Gly) c.3013+46A>G (n.3013+46A>G) c.3077A>G (p.Asp1026Gly) c.3016+46A>G (n.3016+46A>G) c.3031+46A>G (n.3031+46A>G) c.2942A>G (p.Asp981Gly) c.2941A>G (p.Thr981Ala) | gnomAD v4 |
16 | g.28836168A>T | CA395410198 | ATXN2L | c.3131A>T (p.Asp1044Val) c.3085+46A>T (n.3085+46A>T) c.1106A>T (p.Asp369Val) n.3505A>T c.280+46A>T (n.280+46A>T) c.3149A>T (p.Asp1050Val) c.2195A>T (n.2195A>T) c.354+46A>T c.1109A>T (p.Asp370Val) c.3152A>T (p.Asp1051Val) c.3134A>T (p.Asp1045Val) c.3106+46A>T (n.3106+46A>T) c.3103+46A>T (n.3103+46A>T) c.2972A>T (p.Asp991Val) c.3080A>T (p.Asp1027Val) c.3062A>T (p.Asp1021Val) c.2786A>T (p.Asp929Val) n.3361A>T c.2954A>T (p.Asp985Val) c.2768A>T (p.Asp923Val) n.3364A>T c.3088+46A>T (n.3088+46A>T) c.3059A>T (p.Asp1020Val) c.3125A>T (p.Asp1042Val) c.3013+46A>T (n.3013+46A>T) c.3077A>T (p.Asp1026Val) c.3016+46A>T (n.3016+46A>T) c.3031+46A>T (n.3031+46A>T) c.2942A>T (p.Asp981Val) c.2941A>T (p.Thr981Ser) | |
16 | g.28836169C>A | CA395410199 | ATXN2L | c.3132C>A (p.Asp1044Glu) c.3085+47C>A (n.3085+47C>A) c.1107C>A (p.Asp369Glu) n.3506C>A c.280+47C>A (n.280+47C>A) c.3150C>A (p.Asp1050Glu) c.2196C>A (n.2196C>A) c.354+47C>A c.1110C>A (p.Asp370Glu) c.3153C>A (p.Asp1051Glu) c.3135C>A (p.Asp1045Glu) c.3106+47C>A (n.3106+47C>A) c.3103+47C>A (n.3103+47C>A) c.2973C>A (p.Asp991Glu) c.3081C>A (p.Asp1027Glu) c.3063C>A (p.Asp1021Glu) c.2787C>A (p.Asp929Glu) n.3362C>A c.2955C>A (p.Asp985Glu) c.2769C>A (p.Asp923Glu) n.3365C>A c.3088+47C>A (n.3088+47C>A) c.3060C>A (p.Asp1020Glu) c.3126C>A (p.Asp1042Glu) c.3013+47C>A (n.3013+47C>A) c.3078C>A (p.Asp1026Glu) c.3016+47C>A (n.3016+47C>A) c.3031+47C>A (n.3031+47C>A) c.2943C>A (p.Asp981Glu) c.2942C>A (p.Thr981Lys) | |
16 | g.28836169C>G | CA395410200 | ATXN2L | c.3132C>G (p.Asp1044Glu) c.3085+47C>G (n.3085+47C>G) c.1107C>G (p.Asp369Glu) n.3506C>G c.280+47C>G (n.280+47C>G) c.3150C>G (p.Asp1050Glu) c.2196C>G (n.2196C>G) c.354+47C>G c.1110C>G (p.Asp370Glu) c.3153C>G (p.Asp1051Glu) c.3135C>G (p.Asp1045Glu) c.3106+47C>G (n.3106+47C>G) c.3103+47C>G (n.3103+47C>G) c.2973C>G (p.Asp991Glu) c.3081C>G (p.Asp1027Glu) c.3063C>G (p.Asp1021Glu) c.2787C>G (p.Asp929Glu) n.3362C>G c.2955C>G (p.Asp985Glu) c.2769C>G (p.Asp923Glu) n.3365C>G c.3088+47C>G (n.3088+47C>G) c.3060C>G (p.Asp1020Glu) c.3126C>G (p.Asp1042Glu) c.3013+47C>G (n.3013+47C>G) c.3078C>G (p.Asp1026Glu) c.3016+47C>G (n.3016+47C>G) c.3031+47C>G (n.3031+47C>G) c.2943C>G (p.Asp981Glu) c.2942C>G (p.Thr981Arg) | |
16 | g.28836169C>T | CA494869243 | ATXN2L | c.3132C>T (p.Asp1044=) c.3085+47C>T (n.3085+47C>T) c.1107C>T (p.Asp369=) n.3506C>T c.280+47C>T (n.280+47C>T) c.3150C>T (p.Asp1050=) c.2196C>T (n.2196C>T) c.354+47C>T c.1110C>T (p.Asp370=) c.3153C>T (p.Asp1051=) c.3135C>T (p.Asp1045=) c.3106+47C>T (n.3106+47C>T) c.3103+47C>T (n.3103+47C>T) c.2973C>T (p.Asp991=) c.3081C>T (p.Asp1027=) c.3063C>T (p.Asp1021=) c.2787C>T (p.Asp929=) n.3362C>T c.2955C>T (p.Asp985=) c.2769C>T (p.Asp923=) n.3365C>T c.3088+47C>T (n.3088+47C>T) c.3060C>T (p.Asp1020=) c.3126C>T (p.Asp1042=) c.3013+47C>T (n.3013+47C>T) c.3078C>T (p.Asp1026=) c.3016+47C>T (n.3016+47C>T) c.3031+47C>T (n.3031+47C>T) c.2943C>T (p.Asp981=) c.2942C>T (p.Thr981Ile) | |
16 | g.28836170A= | CA2215807057 | ATXN2L | c.3133A= (p.Arg1045=) c.3085+48A= (n.3085+48A=) c.1108A= (p.Arg370=) n.3507A= c.280+48A= (n.280+48A=) c.3151A= (p.Arg1051=) c.2197A= (n.2197A=) c.354+48A= c.1111A= (p.Arg371=) c.3154A= (p.Arg1052=) c.3136A= (p.Arg1046=) c.3106+48A= (n.3106+48A=) c.3103+48A= (n.3103+48A=) c.2974A= (p.Arg992=) c.3082A= (p.Arg1028=) c.3064A= (p.Arg1022=) c.2788A= (p.Arg930=) n.3363A= c.2956A= (p.Arg986=) c.2770A= (p.Arg924=) n.3366A= c.3088+48A= (n.3088+48A=) c.3061A= (p.Arg1021=) c.3127A= (p.Arg1043=) c.3013+48A= (n.3013+48A=) c.3079A= (p.Arg1027=) c.3016+48A= (n.3016+48A=) c.3031+48A= (n.3031+48A=) c.2944A= (p.Arg982=) c.2943A= (p.Thr981=) | |
16 | g.28836170A>C | CA279232200 | ATXN2L | c.3133A>C (p.Arg1045=) c.3085+48A>C (n.3085+48A>C) c.1108A>C (p.Arg370=) n.3507A>C c.280+48A>C (n.280+48A>C) c.3151A>C (p.Arg1051=) c.2197A>C (n.2197A>C) c.354+48A>C c.1111A>C (p.Arg371=) c.3154A>C (p.Arg1052=) c.3136A>C (p.Arg1046=) c.3106+48A>C (n.3106+48A>C) c.3103+48A>C (n.3103+48A>C) c.2974A>C (p.Arg992=) c.3082A>C (p.Arg1028=) c.3064A>C (p.Arg1022=) c.2788A>C (p.Arg930=) n.3363A>C c.2956A>C (p.Arg986=) c.2770A>C (p.Arg924=) n.3366A>C c.3088+48A>C (n.3088+48A>C) c.3061A>C (p.Arg1021=) c.3127A>C (p.Arg1043=) c.3013+48A>C (n.3013+48A>C) c.3079A>C (p.Arg1027=) c.3016+48A>C (n.3016+48A>C) c.3031+48A>C (n.3031+48A>C) c.2944A>C (p.Arg982=) c.2943A>C (p.Thr981=) | dbSNP gnomAD v4 |
16 | g.28836170A>G | CA7985186 | ATXN2L | c.3133A>G (p.Arg1045Gly) c.3085+48A>G (n.3085+48A>G) c.1108A>G (p.Arg370Gly) n.3507A>G c.280+48A>G (n.280+48A>G) c.3151A>G (p.Arg1051Gly) c.2197A>G (n.2197A>G) c.354+48A>G c.1111A>G (p.Arg371Gly) c.3154A>G (p.Arg1052Gly) c.3136A>G (p.Arg1046Gly) c.3106+48A>G (n.3106+48A>G) c.3103+48A>G (n.3103+48A>G) c.2974A>G (p.Arg992Gly) c.3082A>G (p.Arg1028Gly) c.3064A>G (p.Arg1022Gly) c.2788A>G (p.Arg930Gly) n.3363A>G c.2956A>G (p.Arg986Gly) c.2770A>G (p.Arg924Gly) n.3366A>G c.3088+48A>G (n.3088+48A>G) c.3061A>G (p.Arg1021Gly) c.3127A>G (p.Arg1043Gly) c.3013+48A>G (n.3013+48A>G) c.3079A>G (p.Arg1027Gly) c.3016+48A>G (n.3016+48A>G) c.3031+48A>G (n.3031+48A>G) c.2944A>G (p.Arg982Gly) c.2943A>G (p.Thr981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28836170A>T | CA395410202 | ATXN2L | c.3133A>T (p.Arg1045Trp) c.3085+48A>T (n.3085+48A>T) c.1108A>T (p.Arg370Trp) n.3507A>T c.280+48A>T (n.280+48A>T) c.3151A>T (p.Arg1051Trp) c.2197A>T (n.2197A>T) c.354+48A>T c.1111A>T (p.Arg371Trp) c.3154A>T (p.Arg1052Trp) c.3136A>T (p.Arg1046Trp) c.3106+48A>T (n.3106+48A>T) c.3103+48A>T (n.3103+48A>T) c.2974A>T (p.Arg992Trp) c.3082A>T (p.Arg1028Trp) c.3064A>T (p.Arg1022Trp) c.2788A>T (p.Arg930Trp) n.3363A>T c.2956A>T (p.Arg986Trp) c.2770A>T (p.Arg924Trp) n.3366A>T c.3088+48A>T (n.3088+48A>T) c.3061A>T (p.Arg1021Trp) c.3127A>T (p.Arg1043Trp) c.3013+48A>T (n.3013+48A>T) c.3079A>T (p.Arg1027Trp) c.3016+48A>T (n.3016+48A>T) c.3031+48A>T (n.3031+48A>T) c.2944A>T (p.Arg982Trp) c.2943A>T (p.Thr981=) | |
16 | g.28836171G>A | CA395410203 | ATXN2L | c.3134G>A (p.Arg1045Lys) c.3085+49G>A (n.3085+49G>A) c.1109G>A (p.Arg370Lys) n.3508G>A c.280+49G>A (n.280+49G>A) c.3152G>A (p.Arg1051Lys) c.2198G>A (n.2198G>A) c.354+49G>A c.1112G>A (p.Arg371Lys) c.3155G>A (p.Arg1052Lys) c.3137G>A (p.Arg1046Lys) c.3106+49G>A (n.3106+49G>A) c.3103+49G>A (n.3103+49G>A) c.2975G>A (p.Arg992Lys) c.3083G>A (p.Arg1028Lys) c.3065G>A (p.Arg1022Lys) c.2789G>A (p.Arg930Lys) n.3364G>A c.2957G>A (p.Arg986Lys) c.2771G>A (p.Arg924Lys) n.3367G>A c.3088+49G>A (n.3088+49G>A) c.3062G>A (p.Arg1021Lys) c.3128G>A (p.Arg1043Lys) c.3013+49G>A (n.3013+49G>A) c.3080G>A (p.Arg1027Lys) c.3016+49G>A (n.3016+49G>A) c.3031+49G>A (n.3031+49G>A) c.2945G>A (p.Arg982Lys) c.2944G>A (p.Gly982Arg) | |
16 | g.28836171G>C | CA395410204 | ATXN2L | c.3134G>C (p.Arg1045Thr) c.3085+49G>C (n.3085+49G>C) c.1109G>C (p.Arg370Thr) n.3508G>C c.280+49G>C (n.280+49G>C) c.3152G>C (p.Arg1051Thr) c.2198G>C (n.2198G>C) c.354+49G>C c.1112G>C (p.Arg371Thr) c.3155G>C (p.Arg1052Thr) c.3137G>C (p.Arg1046Thr) c.3106+49G>C (n.3106+49G>C) c.3103+49G>C (n.3103+49G>C) c.2975G>C (p.Arg992Thr) c.3083G>C (p.Arg1028Thr) c.3065G>C (p.Arg1022Thr) c.2789G>C (p.Arg930Thr) n.3364G>C c.2957G>C (p.Arg986Thr) c.2771G>C (p.Arg924Thr) n.3367G>C c.3088+49G>C (n.3088+49G>C) c.3062G>C (p.Arg1021Thr) c.3128G>C (p.Arg1043Thr) c.3013+49G>C (n.3013+49G>C) c.3080G>C (p.Arg1027Thr) c.3016+49G>C (n.3016+49G>C) c.3031+49G>C (n.3031+49G>C) c.2945G>C (p.Arg982Thr) c.2944G>C (p.Gly982Arg) | |
16 | g.28836171G>T | CA395410205 | ATXN2L | c.3134G>T (p.Arg1045Met) c.3085+49G>T (n.3085+49G>T) c.1109G>T (p.Arg370Met) n.3508G>T c.280+49G>T (n.280+49G>T) c.3152G>T (p.Arg1051Met) c.2198G>T (n.2198G>T) c.354+49G>T c.1112G>T (p.Arg371Met) c.3155G>T (p.Arg1052Met) c.3137G>T (p.Arg1046Met) c.3106+49G>T (n.3106+49G>T) c.3103+49G>T (n.3103+49G>T) c.2975G>T (p.Arg992Met) c.3083G>T (p.Arg1028Met) c.3065G>T (p.Arg1022Met) c.2789G>T (p.Arg930Met) n.3364G>T c.2957G>T (p.Arg986Met) c.2771G>T (p.Arg924Met) n.3367G>T c.3088+49G>T (n.3088+49G>T) c.3062G>T (p.Arg1021Met) c.3128G>T (p.Arg1043Met) c.3013+49G>T (n.3013+49G>T) c.3080G>T (p.Arg1027Met) c.3016+49G>T (n.3016+49G>T) c.3031+49G>T (n.3031+49G>T) c.2945G>T (p.Arg982Met) c.2944G>T (p.Gly982Ter) | |
16 | g.28836172G>A | CA494869271 | ATXN2L | c.3135G>A (p.Arg1045=) c.3085+50G>A (n.3085+50G>A) c.1110G>A (p.Arg370=) n.3509G>A c.280+50G>A (n.280+50G>A) c.3153G>A (p.Arg1051=) c.2199G>A (n.2199G>A) c.354+50G>A c.1113G>A (p.Arg371=) c.3156G>A (p.Arg1052=) c.3138G>A (p.Arg1046=) c.3106+50G>A (n.3106+50G>A) c.3103+50G>A (n.3103+50G>A) c.2976G>A (p.Arg992=) c.3084G>A (p.Arg1028=) c.3066G>A (p.Arg1022=) c.2790G>A (p.Arg930=) n.3365G>A c.2958G>A (p.Arg986=) c.2772G>A (p.Arg924=) n.3368G>A c.3088+50G>A (n.3088+50G>A) c.3063G>A (p.Arg1021=) c.3129G>A (p.Arg1043=) c.3013+50G>A (n.3013+50G>A) c.3081G>A (p.Arg1027=) c.3016+50G>A (n.3016+50G>A) c.3031+50G>A (n.3031+50G>A) c.2946G>A (p.Arg982=) c.2945G>A (p.Gly982Glu) | COSMIC COSMIC COSMIC |
16 | g.28836172G>C | CA395410206 | ATXN2L | c.3135G>C (p.Arg1045Ser) c.3085+50G>C (n.3085+50G>C) c.1110G>C (p.Arg370Ser) n.3509G>C c.280+50G>C (n.280+50G>C) c.3153G>C (p.Arg1051Ser) c.2199G>C (n.2199G>C) c.354+50G>C c.1113G>C (p.Arg371Ser) c.3156G>C (p.Arg1052Ser) c.3138G>C (p.Arg1046Ser) c.3106+50G>C (n.3106+50G>C) c.3103+50G>C (n.3103+50G>C) c.2976G>C (p.Arg992Ser) c.3084G>C (p.Arg1028Ser) c.3066G>C (p.Arg1022Ser) c.2790G>C (p.Arg930Ser) n.3365G>C c.2958G>C (p.Arg986Ser) c.2772G>C (p.Arg924Ser) n.3368G>C c.3088+50G>C (n.3088+50G>C) c.3063G>C (p.Arg1021Ser) c.3129G>C (p.Arg1043Ser) c.3013+50G>C (n.3013+50G>C) c.3081G>C (p.Arg1027Ser) c.3016+50G>C (n.3016+50G>C) c.3031+50G>C (n.3031+50G>C) c.2946G>C (p.Arg982Ser) c.2945G>C (p.Gly982Ala) | |
16 | g.28836172G>T | CA395410207 | ATXN2L | c.3135G>T (p.Arg1045Ser) c.3085+50G>T (n.3085+50G>T) c.1110G>T (p.Arg370Ser) n.3509G>T c.280+50G>T (n.280+50G>T) c.3153G>T (p.Arg1051Ser) c.2199G>T (n.2199G>T) c.354+50G>T c.1113G>T (p.Arg371Ser) c.3156G>T (p.Arg1052Ser) c.3138G>T (p.Arg1046Ser) c.3106+50G>T (n.3106+50G>T) c.3103+50G>T (n.3103+50G>T) c.2976G>T (p.Arg992Ser) c.3084G>T (p.Arg1028Ser) c.3066G>T (p.Arg1022Ser) c.2790G>T (p.Arg930Ser) n.3365G>T c.2958G>T (p.Arg986Ser) c.2772G>T (p.Arg924Ser) n.3368G>T c.3088+50G>T (n.3088+50G>T) c.3063G>T (p.Arg1021Ser) c.3129G>T (p.Arg1043Ser) c.3013+50G>T (n.3013+50G>T) c.3081G>T (p.Arg1027Ser) c.3016+50G>T (n.3016+50G>T) c.3031+50G>T (n.3031+50G>T) c.2946G>T (p.Arg982Ser) c.2945G>T (p.Gly982Val) | gnomAD v4 |
16 | g.28836173A>C | CA395410208 | ATXN2L | c.3136A>C (p.Ile1046Leu) c.3085+51A>C (n.3085+51A>C) c.1111A>C (p.Ile371Leu) n.3510A>C c.280+51A>C (n.280+51A>C) c.3154A>C (p.Ile1052Leu) c.2200A>C (n.2200A>C) c.354+51A>C c.1114A>C (p.Ile372Leu) c.3157A>C (p.Ile1053Leu) c.3139A>C (p.Ile1047Leu) c.3106+51A>C (n.3106+51A>C) c.3103+51A>C (n.3103+51A>C) c.2977A>C (p.Ile993Leu) c.3085A>C (p.Ile1029Leu) c.3067A>C (p.Ile1023Leu) c.2791A>C (p.Ile931Leu) n.3366A>C c.2959A>C (p.Ile987Leu) c.2773A>C (p.Ile925Leu) n.3369A>C c.3088+51A>C (n.3088+51A>C) c.3064A>C (p.Ile1022Leu) c.3130A>C (p.Ile1044Leu) c.3013+51A>C (n.3013+51A>C) c.3082A>C (p.Ile1028Leu) c.3016+51A>C (n.3016+51A>C) c.3031+51A>C (n.3031+51A>C) c.2947A>C (p.Ile983Leu) c.2946A>C (p.Gly982=) | |
16 | g.28836173A>G | CA395410209 | ATXN2L | c.3136A>G (p.Ile1046Val) c.3085+51A>G (n.3085+51A>G) c.1111A>G (p.Ile371Val) n.3510A>G c.280+51A>G (n.280+51A>G) c.3154A>G (p.Ile1052Val) c.2200A>G (n.2200A>G) c.354+51A>G c.1114A>G (p.Ile372Val) c.3157A>G (p.Ile1053Val) c.3139A>G (p.Ile1047Val) c.3106+51A>G (n.3106+51A>G) c.3103+51A>G (n.3103+51A>G) c.2977A>G (p.Ile993Val) c.3085A>G (p.Ile1029Val) c.3067A>G (p.Ile1023Val) c.2791A>G (p.Ile931Val) n.3366A>G c.2959A>G (p.Ile987Val) c.2773A>G (p.Ile925Val) n.3369A>G c.3088+51A>G (n.3088+51A>G) c.3064A>G (p.Ile1022Val) c.3130A>G (p.Ile1044Val) c.3013+51A>G (n.3013+51A>G) c.3082A>G (p.Ile1028Val) c.3016+51A>G (n.3016+51A>G) c.3031+51A>G (n.3031+51A>G) c.2947A>G (p.Ile983Val) c.2946A>G (p.Gly982=) | gnomAD v4 |
16 | g.28836173A>T | CA395410210 | ATXN2L | c.3136A>T (p.Ile1046Phe) c.3085+51A>T (n.3085+51A>T) c.1111A>T (p.Ile371Phe) n.3510A>T c.280+51A>T (n.280+51A>T) c.3154A>T (p.Ile1052Phe) c.2200A>T (n.2200A>T) c.354+51A>T c.1114A>T (p.Ile372Phe) c.3157A>T (p.Ile1053Phe) c.3139A>T (p.Ile1047Phe) c.3106+51A>T (n.3106+51A>T) c.3103+51A>T (n.3103+51A>T) c.2977A>T (p.Ile993Phe) c.3085A>T (p.Ile1029Phe) c.3067A>T (p.Ile1023Phe) c.2791A>T (p.Ile931Phe) n.3366A>T c.2959A>T (p.Ile987Phe) c.2773A>T (p.Ile925Phe) n.3369A>T c.3088+51A>T (n.3088+51A>T) c.3064A>T (p.Ile1022Phe) c.3130A>T (p.Ile1044Phe) c.3013+51A>T (n.3013+51A>T) c.3082A>T (p.Ile1028Phe) c.3016+51A>T (n.3016+51A>T) c.3031+51A>T (n.3031+51A>T) c.2947A>T (p.Ile983Phe) c.2946A>T (p.Gly982=) | |
16 | g.28836174T>A | CA395410211 | ATXN2L | c.3137T>A (p.Ile1046Asn) c.3085+52T>A (n.3085+52T>A) c.1112T>A (p.Ile371Asn) n.3511T>A c.280+52T>A (n.280+52T>A) c.3155T>A (p.Ile1052Asn) c.2201T>A (n.2201T>A) c.354+52T>A c.1115T>A (p.Ile372Asn) c.3158T>A (p.Ile1053Asn) c.3140T>A (p.Ile1047Asn) c.3106+52T>A (n.3106+52T>A) c.3103+52T>A (n.3103+52T>A) c.2978T>A (p.Ile993Asn) c.3086T>A (p.Ile1029Asn) c.3068T>A (p.Ile1023Asn) c.2792T>A (p.Ile931Asn) n.3367T>A c.2960T>A (p.Ile987Asn) c.2774T>A (p.Ile925Asn) n.3370T>A c.3088+52T>A (n.3088+52T>A) c.3065T>A (p.Ile1022Asn) c.3131T>A (p.Ile1044Asn) c.3013+52T>A (n.3013+52T>A) c.3083T>A (p.Ile1028Asn) c.3016+52T>A (n.3016+52T>A) c.3031+52T>A (n.3031+52T>A) c.2948T>A (p.Ile983Asn) c.2947T>A (p.Phe983Ile) | |
16 | g.28836174T>C | CA395410212 | ATXN2L | c.3137T>C (p.Ile1046Thr) c.3085+52T>C (n.3085+52T>C) c.1112T>C (p.Ile371Thr) n.3511T>C c.280+52T>C (n.280+52T>C) c.3155T>C (p.Ile1052Thr) c.2201T>C (n.2201T>C) c.354+52T>C c.1115T>C (p.Ile372Thr) c.3158T>C (p.Ile1053Thr) c.3140T>C (p.Ile1047Thr) c.3106+52T>C (n.3106+52T>C) c.3103+52T>C (n.3103+52T>C) c.2978T>C (p.Ile993Thr) c.3086T>C (p.Ile1029Thr) c.3068T>C (p.Ile1023Thr) c.2792T>C (p.Ile931Thr) n.3367T>C c.2960T>C (p.Ile987Thr) c.2774T>C (p.Ile925Thr) n.3370T>C c.3088+52T>C (n.3088+52T>C) c.3065T>C (p.Ile1022Thr) c.3131T>C (p.Ile1044Thr) c.3013+52T>C (n.3013+52T>C) c.3083T>C (p.Ile1028Thr) c.3016+52T>C (n.3016+52T>C) c.3031+52T>C (n.3031+52T>C) c.2948T>C (p.Ile983Thr) c.2947T>C (p.Phe983Leu) | |
16 | g.28836174T>G | CA395410213 | ATXN2L | c.3137T>G (p.Ile1046Ser) c.3085+52T>G (n.3085+52T>G) c.1112T>G (p.Ile371Ser) n.3511T>G c.280+52T>G (n.280+52T>G) c.3155T>G (p.Ile1052Ser) c.2201T>G (n.2201T>G) c.354+52T>G c.1115T>G (p.Ile372Ser) c.3158T>G (p.Ile1053Ser) c.3140T>G (p.Ile1047Ser) c.3106+52T>G (n.3106+52T>G) c.3103+52T>G (n.3103+52T>G) c.2978T>G (p.Ile993Ser) c.3086T>G (p.Ile1029Ser) c.3068T>G (p.Ile1023Ser) c.2792T>G (p.Ile931Ser) n.3367T>G c.2960T>G (p.Ile987Ser) c.2774T>G (p.Ile925Ser) n.3370T>G c.3088+52T>G (n.3088+52T>G) c.3065T>G (p.Ile1022Ser) c.3131T>G (p.Ile1044Ser) c.3013+52T>G (n.3013+52T>G) c.3083T>G (p.Ile1028Ser) c.3016+52T>G (n.3016+52T>G) c.3031+52T>G (n.3031+52T>G) c.2948T>G (p.Ile983Ser) c.2947T>G (p.Phe983Val) | |
16 | g.28836175T>A | CA494869317 | ATXN2L | c.3138T>A (p.Ile1046=) c.3085+53T>A (n.3085+53T>A) c.1113T>A (p.Ile371=) n.3512T>A c.280+53T>A (n.280+53T>A) c.3156T>A (p.Ile1052=) c.2202T>A (n.2202T>A) c.354+53T>A c.1116T>A (p.Ile372=) c.3159T>A (p.Ile1053=) c.3141T>A (p.Ile1047=) c.3106+53T>A (n.3106+53T>A) c.3103+53T>A (n.3103+53T>A) c.2979T>A (p.Ile993=) c.3087T>A (p.Ile1029=) c.3069T>A (p.Ile1023=) c.2793T>A (p.Ile931=) n.3368T>A c.2961T>A (p.Ile987=) c.2775T>A (p.Ile925=) n.3371T>A c.3088+53T>A (n.3088+53T>A) c.3066T>A (p.Ile1022=) c.3132T>A (p.Ile1044=) c.3013+53T>A (n.3013+53T>A) c.3084T>A (p.Ile1028=) c.3016+53T>A (n.3016+53T>A) c.3031+53T>A (n.3031+53T>A) c.2949T>A (p.Ile983=) c.2948T>A (p.Phe983Tyr) | |
16 | g.28836175T>C | CA494869322 | ATXN2L | c.3138T>C (p.Ile1046=) c.3085+53T>C (n.3085+53T>C) c.1113T>C (p.Ile371=) n.3512T>C c.280+53T>C (n.280+53T>C) c.3156T>C (p.Ile1052=) c.2202T>C (n.2202T>C) c.354+53T>C c.1116T>C (p.Ile372=) c.3159T>C (p.Ile1053=) c.3141T>C (p.Ile1047=) c.3106+53T>C (n.3106+53T>C) c.3103+53T>C (n.3103+53T>C) c.2979T>C (p.Ile993=) c.3087T>C (p.Ile1029=) c.3069T>C (p.Ile1023=) c.2793T>C (p.Ile931=) n.3368T>C c.2961T>C (p.Ile987=) c.2775T>C (p.Ile925=) n.3371T>C c.3088+53T>C (n.3088+53T>C) c.3066T>C (p.Ile1022=) c.3132T>C (p.Ile1044=) c.3013+53T>C (n.3013+53T>C) c.3084T>C (p.Ile1028=) c.3016+53T>C (n.3016+53T>C) c.3031+53T>C (n.3031+53T>C) c.2949T>C (p.Ile983=) c.2948T>C (p.Phe983Ser) | gnomAD v4 |
16 | g.28836175T>G | CA395410214 | ATXN2L | c.3138T>G (p.Ile1046Met) c.3085+53T>G (n.3085+53T>G) c.1113T>G (p.Ile371Met) n.3512T>G c.280+53T>G (n.280+53T>G) c.3156T>G (p.Ile1052Met) c.2202T>G (n.2202T>G) c.354+53T>G c.1116T>G (p.Ile372Met) c.3159T>G (p.Ile1053Met) c.3141T>G (p.Ile1047Met) c.3106+53T>G (n.3106+53T>G) c.3103+53T>G (n.3103+53T>G) c.2979T>G (p.Ile993Met) c.3087T>G (p.Ile1029Met) c.3069T>G (p.Ile1023Met) c.2793T>G (p.Ile931Met) n.3368T>G c.2961T>G (p.Ile987Met) c.2775T>G (p.Ile925Met) n.3371T>G c.3088+53T>G (n.3088+53T>G) c.3066T>G (p.Ile1022Met) c.3132T>G (p.Ile1044Met) c.3013+53T>G (n.3013+53T>G) c.3084T>G (p.Ile1028Met) c.3016+53T>G (n.3016+53T>G) c.3031+53T>G (n.3031+53T>G) c.2949T>G (p.Ile983Met) c.2948T>G (p.Phe983Cys) | |
16 | g.28836176C>A | CA395410215 | ATXN2L | c.3139C>A (p.Arg1047Ser) c.3139C>A (p.Pro1047Thr) c.3085+54C>A (n.3085+54C>A) c.3139C>A (p.Leu1047Ile) c.1114C>A (p.Arg372Ser) n.3513C>A c.280+54C>A (n.280+54C>A) c.3157C>A (p.Leu1053Ile) c.2203C>A (n.2203C>A) c.354+54C>A c.1117C>A (p.Arg373Ser) c.3160C>A (p.Leu1054Ile) c.3142C>A (p.Leu1048Ile) c.3106+54C>A (n.3106+54C>A) c.3160C>A (p.Arg1054Ser) c.3160C>A (p.Pro1054Thr) c.3103+54C>A (n.3103+54C>A) c.2980C>A (p.Leu994Ile) c.3088C>A (p.Leu1030Ile) c.3070C>A (p.Leu1024Ile) c.2794C>A (p.Leu932Ile) n.3369C>A c.2962C>A (p.Leu988Ile) c.2776C>A (p.Leu926Ile) n.3372C>A c.3157C>A (p.Arg1053Ser) c.3088+54C>A (n.3088+54C>A) c.3142C>A (p.Arg1048Ser) c.3067C>A (p.Leu1023Ile) c.3133C>A (p.Arg1045Ser) c.3157C>A (p.Pro1053Thr) c.3142C>A (p.Pro1048Thr) c.3013+54C>A (n.3013+54C>A) c.3070C>A (p.Arg1024Ser) c.3067C>A (p.Arg1023Ser) c.3085C>A (p.Pro1029Thr) c.3016+54C>A (n.3016+54C>A) c.3031+54C>A (n.3031+54C>A) c.2950C>A (p.Arg984Ser) c.2949C>A (p.Phe983Leu) | |
16 | g.28836176C= | CA2215807063 | ATXN2L | c.3139C= (p.Arg1047=) c.3139C= (p.Pro1047=) c.3085+54C= (n.3085+54C=) c.3139C= (p.Leu1047=) c.1114C= (p.Arg372=) n.3513C= c.280+54C= (n.280+54C=) c.3157C= (p.Leu1053=) c.2203C= (n.2203C=) c.354+54C= c.1117C= (p.Arg373=) c.3160C= (p.Leu1054=) c.3142C= (p.Leu1048=) c.3106+54C= (n.3106+54C=) c.3160C= (p.Arg1054=) c.3160C= (p.Pro1054=) c.3103+54C= (n.3103+54C=) c.2980C= (p.Leu994=) c.3088C= (p.Leu1030=) c.3070C= (p.Leu1024=) c.2794C= (p.Leu932=) n.3369C= c.2962C= (p.Leu988=) c.2776C= (p.Leu926=) n.3372C= c.3157C= (p.Arg1053=) c.3088+54C= (n.3088+54C=) c.3142C= (p.Arg1048=) c.3067C= (p.Leu1023=) c.3133C= (p.Arg1045=) c.3157C= (p.Pro1053=) c.3142C= (p.Pro1048=) c.3013+54C= (n.3013+54C=) c.3070C= (p.Arg1024=) c.3067C= (p.Arg1023=) c.3085C= (p.Pro1029=) c.3016+54C= (n.3016+54C=) c.3031+54C= (n.3031+54C=) c.2950C= (p.Arg984=) c.2949C= (p.Phe983=) | |
16 | g.28836176C>G | CA395410216 | ATXN2L | c.3139C>G (p.Arg1047Gly) c.3139C>G (p.Pro1047Ala) c.3085+54C>G (n.3085+54C>G) c.3139C>G (p.Leu1047Val) c.1114C>G (p.Arg372Gly) n.3513C>G c.280+54C>G (n.280+54C>G) c.3157C>G (p.Leu1053Val) c.2203C>G (n.2203C>G) c.354+54C>G c.1117C>G (p.Arg373Gly) c.3160C>G (p.Leu1054Val) c.3142C>G (p.Leu1048Val) c.3106+54C>G (n.3106+54C>G) c.3160C>G (p.Arg1054Gly) c.3160C>G (p.Pro1054Ala) c.3103+54C>G (n.3103+54C>G) c.2980C>G (p.Leu994Val) c.3088C>G (p.Leu1030Val) c.3070C>G (p.Leu1024Val) c.2794C>G (p.Leu932Val) n.3369C>G c.2962C>G (p.Leu988Val) c.2776C>G (p.Leu926Val) n.3372C>G c.3157C>G (p.Arg1053Gly) c.3088+54C>G (n.3088+54C>G) c.3142C>G (p.Arg1048Gly) c.3067C>G (p.Leu1023Val) c.3133C>G (p.Arg1045Gly) c.3157C>G (p.Pro1053Ala) c.3142C>G (p.Pro1048Ala) c.3013+54C>G (n.3013+54C>G) c.3070C>G (p.Arg1024Gly) c.3067C>G (p.Arg1023Gly) c.3085C>G (p.Pro1029Ala) c.3016+54C>G (n.3016+54C>G) c.3031+54C>G (n.3031+54C>G) c.2950C>G (p.Arg984Gly) c.2949C>G (p.Phe983Leu) | |
16 | g.28836176C>T | CA395410217 | ATXN2L | c.3139C>T (p.Arg1047Cys) c.3139C>T (p.Pro1047Ser) c.3085+54C>T (n.3085+54C>T) c.3139C>T (p.Leu1047=) c.1114C>T (p.Arg372Cys) n.3513C>T c.280+54C>T (n.280+54C>T) c.3157C>T (p.Leu1053Phe) c.2203C>T (n.2203C>T) c.354+54C>T c.1117C>T (p.Arg373Cys) c.3139C>T (p.Leu1047Phe) c.3160C>T (p.Leu1054=) c.3157C>T (p.Leu1053=) c.3142C>T (p.Leu1048=) c.3106+54C>T (n.3106+54C>T) c.3160C>T (p.Arg1054Cys) c.3160C>T (p.Leu1054Phe) c.3160C>T (p.Pro1054Ser) c.3103+54C>T (n.3103+54C>T) c.2980C>T (p.Leu994=) c.3088C>T (p.Leu1030=) c.3070C>T (p.Leu1024=) c.2794C>T (p.Leu932=) n.3369C>T c.2962C>T (p.Leu988=) c.2776C>T (p.Leu926=) n.3372C>T c.3157C>T (p.Arg1053Cys) c.3088+54C>T (n.3088+54C>T) c.3142C>T (p.Arg1048Cys) c.3067C>T (p.Leu1023=) c.3133C>T (p.Arg1045Cys) c.3157C>T (p.Pro1053Ser) c.3142C>T (p.Leu1048Phe) c.3142C>T (p.Pro1048Ser) c.3013+54C>T (n.3013+54C>T) c.3070C>T (p.Arg1024Cys) c.3067C>T (p.Arg1023Cys) c.3085C>T (p.Pro1029Ser) c.3016+54C>T (n.3016+54C>T) c.3031+54C>T (n.3031+54C>T) c.2950C>T (p.Arg984Cys) c.2949C>T (p.Phe983=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
16 | g.28836177G>A | CA279232201 | ATXN2L | c.3140G>A (p.Arg1047His) c.3139+1G>A (n.3139+1G>A) c.3085+55G>A (n.3085+55G>A) c.1115G>A (p.Arg372His) n.3514G>A c.280+55G>A (n.280+55G>A) c.3157+1G>A (n.3157+1G>A) c.2204G>A (n.2204G>A) c.354+55G>A c.1118G>A (p.Arg373His) c.3160+1G>A (n.3160+1G>A) c.3142+1G>A (n.3142+1G>A) c.3106+55G>A (n.3106+55G>A) c.3161G>A (p.Arg1054His) c.3103+55G>A (n.3103+55G>A) c.2980+1G>A (n.2980+1G>A) c.3088+1G>A (n.3088+1G>A) c.3070+1G>A (n.3070+1G>A) c.2794+1G>A (n.2794+1G>A) n.3370G>A c.2962+1G>A (n.2962+1G>A) c.2776+1G>A (n.2776+1G>A) n.3373G>A c.3158G>A (p.Arg1053His) c.3088+55G>A (n.3088+55G>A) c.3143G>A (p.Arg1048His) c.3067+1G>A (n.3067+1G>A) c.3134G>A (p.Arg1045His) c.3013+55G>A (n.3013+55G>A) c.3071G>A (p.Arg1024His) c.3068G>A (p.Arg1023His) c.3085+1G>A (n.3085+1G>A) c.3016+55G>A (n.3016+55G>A) c.3031+55G>A (n.3031+55G>A) c.2951G>A (p.Arg984His) c.2949+1G>A (n.2949+1G>A) | dbSNP gnomAD v4 |
16 | g.28836177G>C | CA395410218 | ATXN2L | c.3140G>C (p.Arg1047Pro) c.3139+1G>C (n.3139+1G>C) c.3085+55G>C (n.3085+55G>C) c.1115G>C (p.Arg372Pro) n.3514G>C c.280+55G>C (n.280+55G>C) c.3157+1G>C (n.3157+1G>C) c.2204G>C (n.2204G>C) c.354+55G>C c.1118G>C (p.Arg373Pro) c.3160+1G>C (n.3160+1G>C) c.3142+1G>C (n.3142+1G>C) c.3106+55G>C (n.3106+55G>C) c.3161G>C (p.Arg1054Pro) c.3103+55G>C (n.3103+55G>C) c.2980+1G>C (n.2980+1G>C) c.3088+1G>C (n.3088+1G>C) c.3070+1G>C (n.3070+1G>C) c.2794+1G>C (n.2794+1G>C) n.3370G>C c.2962+1G>C (n.2962+1G>C) c.2776+1G>C (n.2776+1G>C) n.3373G>C c.3158G>C (p.Arg1053Pro) c.3088+55G>C (n.3088+55G>C) c.3143G>C (p.Arg1048Pro) c.3067+1G>C (n.3067+1G>C) c.3134G>C (p.Arg1045Pro) c.3013+55G>C (n.3013+55G>C) c.3071G>C (p.Arg1024Pro) c.3068G>C (p.Arg1023Pro) c.3085+1G>C (n.3085+1G>C) c.3016+55G>C (n.3016+55G>C) c.3031+55G>C (n.3031+55G>C) c.2951G>C (p.Arg984Pro) c.2949+1G>C (n.2949+1G>C) | gnomAD v4 |
16 | g.28836177G= | CA2215807068 | ATXN2L | c.3140G= (p.Arg1047=) c.3139+1G= (n.3139+1G=) c.3085+55G= (n.3085+55G=) c.1115G= (p.Arg372=) n.3514G= c.280+55G= (n.280+55G=) c.3157+1G= (n.3157+1G=) c.2204G= (n.2204G=) c.354+55G= c.1118G= (p.Arg373=) c.3160+1G= (n.3160+1G=) c.3142+1G= (n.3142+1G=) c.3106+55G= (n.3106+55G=) c.3161G= (p.Arg1054=) c.3103+55G= (n.3103+55G=) c.2980+1G= (n.2980+1G=) c.3088+1G= (n.3088+1G=) c.3070+1G= (n.3070+1G=) c.2794+1G= (n.2794+1G=) n.3370G= c.2962+1G= (n.2962+1G=) c.2776+1G= (n.2776+1G=) n.3373G= c.3158G= (p.Arg1053=) c.3088+55G= (n.3088+55G=) c.3143G= (p.Arg1048=) c.3067+1G= (n.3067+1G=) c.3134G= (p.Arg1045=) c.3013+55G= (n.3013+55G=) c.3071G= (p.Arg1024=) c.3068G= (p.Arg1023=) c.3085+1G= (n.3085+1G=) c.3016+55G= (n.3016+55G=) c.3031+55G= (n.3031+55G=) c.2951G= (p.Arg984=) c.2949+1G= (n.2949+1G=) | |
16 | g.28836177G>T | CA395410219 | ATXN2L | c.3140G>T (p.Arg1047Leu) c.3139+1G>T (n.3139+1G>T) c.3085+55G>T (n.3085+55G>T) c.1115G>T (p.Arg372Leu) n.3514G>T c.280+55G>T (n.280+55G>T) c.3157+1G>T (n.3157+1G>T) c.2204G>T (n.2204G>T) c.354+55G>T c.1118G>T (p.Arg373Leu) c.3160+1G>T (n.3160+1G>T) c.3142+1G>T (n.3142+1G>T) c.3106+55G>T (n.3106+55G>T) c.3161G>T (p.Arg1054Leu) c.3103+55G>T (n.3103+55G>T) c.2980+1G>T (n.2980+1G>T) c.3088+1G>T (n.3088+1G>T) c.3070+1G>T (n.3070+1G>T) c.2794+1G>T (n.2794+1G>T) n.3370G>T c.2962+1G>T (n.2962+1G>T) c.2776+1G>T (n.2776+1G>T) n.3373G>T c.3158G>T (p.Arg1053Leu) c.3088+55G>T (n.3088+55G>T) c.3143G>T (p.Arg1048Leu) c.3067+1G>T (n.3067+1G>T) c.3134G>T (p.Arg1045Leu) c.3013+55G>T (n.3013+55G>T) c.3071G>T (p.Arg1024Leu) c.3068G>T (p.Arg1023Leu) c.3085+1G>T (n.3085+1G>T) c.3016+55G>T (n.3016+55G>T) c.3031+55G>T (n.3031+55G>T) c.2951G>T (p.Arg984Leu) c.2949+1G>T (n.2949+1G>T) | |
16 | g.28836178T>A | CA395410222 | ATXN2L | c.3141T>A (p.Arg1047=) c.3139+2T>A (n.3139+2T>A) c.3085+56T>A (n.3085+56T>A) c.1116T>A (p.Arg372=) n.3515T>A c.280+56T>A (n.280+56T>A) c.3157+2T>A (n.3157+2T>A) c.2205T>A (n.2205T>A) c.354+56T>A c.1119T>A (p.Arg373=) c.3160+2T>A (n.3160+2T>A) c.3142+2T>A (n.3142+2T>A) c.3106+56T>A (n.3106+56T>A) c.3162T>A (p.Arg1054=) c.3103+56T>A (n.3103+56T>A) c.2980+2T>A (n.2980+2T>A) c.3088+2T>A (n.3088+2T>A) c.3070+2T>A (n.3070+2T>A) c.2794+2T>A (n.2794+2T>A) n.3371T>A c.2962+2T>A (n.2962+2T>A) c.2776+2T>A (n.2776+2T>A) n.3374T>A c.3159T>A (p.Arg1053=) c.3088+56T>A (n.3088+56T>A) c.3144T>A (p.Arg1048=) c.3067+2T>A (n.3067+2T>A) c.3135T>A (p.Arg1045=) c.3013+56T>A (n.3013+56T>A) c.3072T>A (p.Arg1024=) c.3069T>A (p.Arg1023=) c.3085+2T>A (n.3085+2T>A) c.3016+56T>A (n.3016+56T>A) c.3031+56T>A (n.3031+56T>A) c.2952T>A (p.Arg984=) c.2949+2T>A (n.2949+2T>A) | |
16 | g.28836178T>C | CA395410220 | ATXN2L | c.3141T>C (p.Arg1047=) c.3139+2T>C (n.3139+2T>C) c.3085+56T>C (n.3085+56T>C) c.1116T>C (p.Arg372=) n.3515T>C c.280+56T>C (n.280+56T>C) c.3157+2T>C (n.3157+2T>C) c.2205T>C (n.2205T>C) c.354+56T>C c.1119T>C (p.Arg373=) c.3160+2T>C (n.3160+2T>C) c.3142+2T>C (n.3142+2T>C) c.3106+56T>C (n.3106+56T>C) c.3162T>C (p.Arg1054=) c.3103+56T>C (n.3103+56T>C) c.2980+2T>C (n.2980+2T>C) c.3088+2T>C (n.3088+2T>C) c.3070+2T>C (n.3070+2T>C) c.2794+2T>C (n.2794+2T>C) n.3371T>C c.2962+2T>C (n.2962+2T>C) c.2776+2T>C (n.2776+2T>C) n.3374T>C c.3159T>C (p.Arg1053=) c.3088+56T>C (n.3088+56T>C) c.3144T>C (p.Arg1048=) c.3067+2T>C (n.3067+2T>C) c.3135T>C (p.Arg1045=) c.3013+56T>C (n.3013+56T>C) c.3072T>C (p.Arg1024=) c.3069T>C (p.Arg1023=) c.3085+2T>C (n.3085+2T>C) c.3016+56T>C (n.3016+56T>C) c.3031+56T>C (n.3031+56T>C) c.2952T>C (p.Arg984=) c.2949+2T>C (n.2949+2T>C) | |
16 | g.28836178T>G | CA395410221 | ATXN2L | c.3141T>G (p.Arg1047=) c.3139+2T>G (n.3139+2T>G) c.3085+56T>G (n.3085+56T>G) c.1116T>G (p.Arg372=) n.3515T>G c.280+56T>G (n.280+56T>G) c.3157+2T>G (n.3157+2T>G) c.2205T>G (n.2205T>G) c.354+56T>G c.1119T>G (p.Arg373=) c.3160+2T>G (n.3160+2T>G) c.3142+2T>G (n.3142+2T>G) c.3106+56T>G (n.3106+56T>G) c.3162T>G (p.Arg1054=) c.3103+56T>G (n.3103+56T>G) c.2980+2T>G (n.2980+2T>G) c.3088+2T>G (n.3088+2T>G) c.3070+2T>G (n.3070+2T>G) c.2794+2T>G (n.2794+2T>G) n.3371T>G c.2962+2T>G (n.2962+2T>G) c.2776+2T>G (n.2776+2T>G) n.3374T>G c.3159T>G (p.Arg1053=) c.3088+56T>G (n.3088+56T>G) c.3144T>G (p.Arg1048=) c.3067+2T>G (n.3067+2T>G) c.3135T>G (p.Arg1045=) c.3013+56T>G (n.3013+56T>G) c.3072T>G (p.Arg1024=) c.3069T>G (p.Arg1023=) c.3085+2T>G (n.3085+2T>G) c.3016+56T>G (n.3016+56T>G) c.3031+56T>G (n.3031+56T>G) c.2952T>G (p.Arg984=) c.2949+2T>G (n.2949+2T>G) | |
16 | g.28836179G>A | CA395410223 | ATXN2L | c.3142G>A (p.Glu1048Lys) c.3139+3G>A (n.3139+3G>A) c.3085+57G>A (n.3085+57G>A) c.1117G>A (p.Glu373Lys) n.3516G>A c.280+57G>A (n.280+57G>A) c.3157+3G>A (n.3157+3G>A) c.2206G>A (n.2206G>A) c.354+57G>A c.1120G>A (p.Glu374Lys) c.3160+3G>A (n.3160+3G>A) c.3142+3G>A (n.3142+3G>A) c.3106+57G>A (n.3106+57G>A) c.3163G>A (p.Glu1055Lys) c.3103+57G>A (n.3103+57G>A) c.2980+3G>A (n.2980+3G>A) c.3088+3G>A (n.3088+3G>A) c.3070+3G>A (n.3070+3G>A) c.2794+3G>A (n.2794+3G>A) n.3372G>A c.2962+3G>A (n.2962+3G>A) c.2776+3G>A (n.2776+3G>A) n.3375G>A c.3160G>A (p.Glu1054Lys) c.3088+57G>A (n.3088+57G>A) c.3145G>A (p.Glu1049Lys) c.3067+3G>A (n.3067+3G>A) c.3136G>A (p.Glu1046Lys) c.3013+57G>A (n.3013+57G>A) c.3073G>A (p.Glu1025Lys) c.3070G>A (p.Glu1024Lys) c.3085+3G>A (n.3085+3G>A) c.3016+57G>A (n.3016+57G>A) c.3031+57G>A (n.3031+57G>A) c.2953G>A (p.Glu985Lys) c.2949+3G>A (n.2949+3G>A) | COSMIC COSMIC |
16 | g.28836179G>C | CA395410224 | ATXN2L | c.3142G>C (p.Glu1048Gln) c.3139+3G>C (n.3139+3G>C) c.3085+57G>C (n.3085+57G>C) c.1117G>C (p.Glu373Gln) n.3516G>C c.280+57G>C (n.280+57G>C) c.3157+3G>C (n.3157+3G>C) c.2206G>C (n.2206G>C) c.354+57G>C c.1120G>C (p.Glu374Gln) c.3160+3G>C (n.3160+3G>C) c.3142+3G>C (n.3142+3G>C) c.3106+57G>C (n.3106+57G>C) c.3163G>C (p.Glu1055Gln) c.3103+57G>C (n.3103+57G>C) c.2980+3G>C (n.2980+3G>C) c.3088+3G>C (n.3088+3G>C) c.3070+3G>C (n.3070+3G>C) c.2794+3G>C (n.2794+3G>C) n.3372G>C c.2962+3G>C (n.2962+3G>C) c.2776+3G>C (n.2776+3G>C) n.3375G>C c.3160G>C (p.Glu1054Gln) c.3088+57G>C (n.3088+57G>C) c.3145G>C (p.Glu1049Gln) c.3067+3G>C (n.3067+3G>C) c.3136G>C (p.Glu1046Gln) c.3013+57G>C (n.3013+57G>C) c.3073G>C (p.Glu1025Gln) c.3070G>C (p.Glu1024Gln) c.3085+3G>C (n.3085+3G>C) c.3016+57G>C (n.3016+57G>C) c.3031+57G>C (n.3031+57G>C) c.2953G>C (p.Glu985Gln) c.2949+3G>C (n.2949+3G>C) | |
16 | g.28836179G>T | CA395410225 | ATXN2L | c.3142G>T (p.Glu1048Ter) c.3139+3G>T (n.3139+3G>T) c.3085+57G>T (n.3085+57G>T) c.1117G>T (p.Glu373Ter) n.3516G>T c.280+57G>T (n.280+57G>T) c.3157+3G>T (n.3157+3G>T) c.2206G>T (n.2206G>T) c.354+57G>T c.1120G>T (p.Glu374Ter) c.3160+3G>T (n.3160+3G>T) c.3142+3G>T (n.3142+3G>T) c.3106+57G>T (n.3106+57G>T) c.3163G>T (p.Glu1055Ter) c.3103+57G>T (n.3103+57G>T) c.2980+3G>T (n.2980+3G>T) c.3088+3G>T (n.3088+3G>T) c.3070+3G>T (n.3070+3G>T) c.2794+3G>T (n.2794+3G>T) n.3372G>T c.2962+3G>T (n.2962+3G>T) c.2776+3G>T (n.2776+3G>T) n.3375G>T c.3160G>T (p.Glu1054Ter) c.3088+57G>T (n.3088+57G>T) c.3145G>T (p.Glu1049Ter) c.3067+3G>T (n.3067+3G>T) c.3136G>T (p.Glu1046Ter) c.3013+57G>T (n.3013+57G>T) c.3073G>T (p.Glu1025Ter) c.3070G>T (p.Glu1024Ter) c.3085+3G>T (n.3085+3G>T) c.3016+57G>T (n.3016+57G>T) c.3031+57G>T (n.3031+57G>T) c.2953G>T (p.Glu985Ter) c.2949+3G>T (n.2949+3G>T) | |
16 | g.28836180A>C | CA395410226 | ATXN2L | c.3143A>C (p.Glu1048Ala) c.3139+4A>C (n.3139+4A>C) c.3085+58A>C (n.3085+58A>C) c.1118A>C (p.Glu373Ala) n.3517A>C c.280+58A>C (n.280+58A>C) c.3157+4A>C (n.3157+4A>C) c.2207A>C (n.2207A>C) c.354+58A>C c.1121A>C (p.Glu374Ala) c.3160+4A>C (n.3160+4A>C) c.3142+4A>C (n.3142+4A>C) c.3106+58A>C (n.3106+58A>C) c.3164A>C (p.Glu1055Ala) c.3103+58A>C (n.3103+58A>C) c.2980+4A>C (n.2980+4A>C) c.3088+4A>C (n.3088+4A>C) c.3070+4A>C (n.3070+4A>C) c.2794+4A>C (n.2794+4A>C) n.3373A>C c.2962+4A>C (n.2962+4A>C) c.2776+4A>C (n.2776+4A>C) n.3376A>C c.3161A>C (p.Glu1054Ala) c.3088+58A>C (n.3088+58A>C) c.3146A>C (p.Glu1049Ala) c.3067+4A>C (n.3067+4A>C) c.3137A>C (p.Glu1046Ala) c.3013+58A>C (n.3013+58A>C) c.3074A>C (p.Glu1025Ala) c.3071A>C (p.Glu1024Ala) c.3085+4A>C (n.3085+4A>C) c.3016+58A>C (n.3016+58A>C) c.3031+58A>C (n.3031+58A>C) c.2954A>C (p.Glu985Ala) c.2949+4A>C (n.2949+4A>C) | |
16 | g.28836180A>G | CA395410227 | ATXN2L | c.3143A>G (p.Glu1048Gly) c.3139+4A>G (n.3139+4A>G) c.3085+58A>G (n.3085+58A>G) c.1118A>G (p.Glu373Gly) n.3517A>G c.280+58A>G (n.280+58A>G) c.3157+4A>G (n.3157+4A>G) c.2207A>G (n.2207A>G) c.354+58A>G c.1121A>G (p.Glu374Gly) c.3160+4A>G (n.3160+4A>G) c.3142+4A>G (n.3142+4A>G) c.3106+58A>G (n.3106+58A>G) c.3164A>G (p.Glu1055Gly) c.3103+58A>G (n.3103+58A>G) c.2980+4A>G (n.2980+4A>G) c.3088+4A>G (n.3088+4A>G) c.3070+4A>G (n.3070+4A>G) c.2794+4A>G (n.2794+4A>G) n.3373A>G c.2962+4A>G (n.2962+4A>G) c.2776+4A>G (n.2776+4A>G) n.3376A>G c.3161A>G (p.Glu1054Gly) c.3088+58A>G (n.3088+58A>G) c.3146A>G (p.Glu1049Gly) c.3067+4A>G (n.3067+4A>G) c.3137A>G (p.Glu1046Gly) c.3013+58A>G (n.3013+58A>G) c.3074A>G (p.Glu1025Gly) c.3071A>G (p.Glu1024Gly) c.3085+4A>G (n.3085+4A>G) c.3016+58A>G (n.3016+58A>G) c.3031+58A>G (n.3031+58A>G) c.2954A>G (p.Glu985Gly) c.2949+4A>G (n.2949+4A>G) | |
16 | g.28836180A>T | CA395410228 | ATXN2L | c.3143A>T (p.Glu1048Val) c.3139+4A>T (n.3139+4A>T) c.3085+58A>T (n.3085+58A>T) c.1118A>T (p.Glu373Val) n.3517A>T c.280+58A>T (n.280+58A>T) c.3157+4A>T (n.3157+4A>T) c.2207A>T (n.2207A>T) c.354+58A>T c.1121A>T (p.Glu374Val) c.3160+4A>T (n.3160+4A>T) c.3142+4A>T (n.3142+4A>T) c.3106+58A>T (n.3106+58A>T) c.3164A>T (p.Glu1055Val) c.3103+58A>T (n.3103+58A>T) c.2980+4A>T (n.2980+4A>T) c.3088+4A>T (n.3088+4A>T) c.3070+4A>T (n.3070+4A>T) c.2794+4A>T (n.2794+4A>T) n.3373A>T c.2962+4A>T (n.2962+4A>T) c.2776+4A>T (n.2776+4A>T) n.3376A>T c.3161A>T (p.Glu1054Val) c.3088+58A>T (n.3088+58A>T) c.3146A>T (p.Glu1049Val) c.3067+4A>T (n.3067+4A>T) c.3137A>T (p.Glu1046Val) c.3013+58A>T (n.3013+58A>T) c.3074A>T (p.Glu1025Val) c.3071A>T (p.Glu1024Val) c.3085+4A>T (n.3085+4A>T) c.3016+58A>T (n.3016+58A>T) c.3031+58A>T (n.3031+58A>T) c.2954A>T (p.Glu985Val) c.2949+4A>T (n.2949+4A>T) | gnomAD v4 |
16 | g.28836181G>C | CA395410229 | ATXN2L | c.3144G>C (p.Glu1048Asp) c.3139+5G>C (n.3139+5G>C) c.3085+59G>C (n.3085+59G>C) c.1119G>C (p.Glu373Asp) n.3518G>C c.280+59G>C (n.280+59G>C) c.3157+5G>C (n.3157+5G>C) c.2208G>C (n.2208G>C) c.354+59G>C c.1122G>C (p.Glu374Asp) c.3160+5G>C (n.3160+5G>C) c.3142+5G>C (n.3142+5G>C) c.3106+59G>C (n.3106+59G>C) c.3165G>C (p.Glu1055Asp) c.3103+59G>C (n.3103+59G>C) c.2980+5G>C (n.2980+5G>C) c.3088+5G>C (n.3088+5G>C) c.3070+5G>C (n.3070+5G>C) c.2794+5G>C (n.2794+5G>C) n.3374G>C c.2962+5G>C (n.2962+5G>C) c.2776+5G>C (n.2776+5G>C) n.3377G>C c.3162G>C (p.Glu1054Asp) c.3088+59G>C (n.3088+59G>C) c.3147G>C (p.Glu1049Asp) c.3067+5G>C (n.3067+5G>C) c.3138G>C (p.Glu1046Asp) c.3013+59G>C (n.3013+59G>C) c.3075G>C (p.Glu1025Asp) c.3072G>C (p.Glu1024Asp) c.3085+5G>C (n.3085+5G>C) c.3016+59G>C (n.3016+59G>C) c.3031+59G>C (n.3031+59G>C) c.2955G>C (p.Glu985Asp) c.2949+5G>C (n.2949+5G>C) | |
16 | g.28836181G>T | CA395410230 | ATXN2L | c.3144G>T (p.Glu1048Asp) c.3139+5G>T (n.3139+5G>T) c.3085+59G>T (n.3085+59G>T) c.1119G>T (p.Glu373Asp) n.3518G>T c.280+59G>T (n.280+59G>T) c.3157+5G>T (n.3157+5G>T) c.2208G>T (n.2208G>T) c.354+59G>T c.1122G>T (p.Glu374Asp) c.3160+5G>T (n.3160+5G>T) c.3142+5G>T (n.3142+5G>T) c.3106+59G>T (n.3106+59G>T) c.3165G>T (p.Glu1055Asp) c.3103+59G>T (n.3103+59G>T) c.2980+5G>T (n.2980+5G>T) c.3088+5G>T (n.3088+5G>T) c.3070+5G>T (n.3070+5G>T) c.2794+5G>T (n.2794+5G>T) n.3374G>T c.2962+5G>T (n.2962+5G>T) c.2776+5G>T (n.2776+5G>T) n.3377G>T c.3162G>T (p.Glu1054Asp) c.3088+59G>T (n.3088+59G>T) c.3147G>T (p.Glu1049Asp) c.3067+5G>T (n.3067+5G>T) c.3138G>T (p.Glu1046Asp) c.3013+59G>T (n.3013+59G>T) c.3075G>T (p.Glu1025Asp) c.3072G>T (p.Glu1024Asp) c.3085+5G>T (n.3085+5G>T) c.3016+59G>T (n.3016+59G>T) c.3031+59G>T (n.3031+59G>T) c.2955G>T (p.Glu985Asp) c.2949+5G>T (n.2949+5G>T) | |
16 | g.28836182T>A | CA395410231 | ATXN2L | c.3145T>A (p.Phe1049Ile) c.3139+6T>A (n.3139+6T>A) c.3085+60T>A (n.3085+60T>A) c.1120T>A (p.Phe374Ile) n.3519T>A c.280+60T>A (n.280+60T>A) c.3157+6T>A (n.3157+6T>A) c.2209T>A (n.2209T>A) c.354+60T>A c.1123T>A (p.Phe375Ile) c.3160+6T>A (n.3160+6T>A) c.3142+6T>A (n.3142+6T>A) c.3106+60T>A (n.3106+60T>A) c.3166T>A (p.Phe1056Ile) c.3103+60T>A (n.3103+60T>A) c.2980+6T>A (n.2980+6T>A) c.3088+6T>A (n.3088+6T>A) c.3070+6T>A (n.3070+6T>A) c.2794+6T>A (n.2794+6T>A) n.3375T>A c.2962+6T>A (n.2962+6T>A) c.2776+6T>A (n.2776+6T>A) n.3378T>A c.3163T>A (p.Phe1055Ile) c.3088+60T>A (n.3088+60T>A) c.3148T>A (p.Phe1050Ile) c.3067+6T>A (n.3067+6T>A) c.3139T>A (p.Phe1047Ile) c.3013+60T>A (n.3013+60T>A) c.3076T>A (p.Phe1026Ile) c.3073T>A (p.Phe1025Ile) c.3085+6T>A (n.3085+6T>A) c.3016+60T>A (n.3016+60T>A) c.3031+60T>A (n.3031+60T>A) c.2956T>A (p.Phe986Ile) c.2949+6T>A (n.2949+6T>A) | |
16 | g.28836182T>C | CA395410232 | ATXN2L | c.3145T>C (p.Phe1049Leu) c.3139+6T>C (n.3139+6T>C) c.3085+60T>C (n.3085+60T>C) c.1120T>C (p.Phe374Leu) n.3519T>C c.280+60T>C (n.280+60T>C) c.3157+6T>C (n.3157+6T>C) c.2209T>C (n.2209T>C) c.354+60T>C c.1123T>C (p.Phe375Leu) c.3160+6T>C (n.3160+6T>C) c.3142+6T>C (n.3142+6T>C) c.3106+60T>C (n.3106+60T>C) c.3166T>C (p.Phe1056Leu) c.3103+60T>C (n.3103+60T>C) c.2980+6T>C (n.2980+6T>C) c.3088+6T>C (n.3088+6T>C) c.3070+6T>C (n.3070+6T>C) c.2794+6T>C (n.2794+6T>C) n.3375T>C c.2962+6T>C (n.2962+6T>C) c.2776+6T>C (n.2776+6T>C) n.3378T>C c.3163T>C (p.Phe1055Leu) c.3088+60T>C (n.3088+60T>C) c.3148T>C (p.Phe1050Leu) c.3067+6T>C (n.3067+6T>C) c.3139T>C (p.Phe1047Leu) c.3013+60T>C (n.3013+60T>C) c.3076T>C (p.Phe1026Leu) c.3073T>C (p.Phe1025Leu) c.3085+6T>C (n.3085+6T>C) c.3016+60T>C (n.3016+60T>C) c.3031+60T>C (n.3031+60T>C) c.2956T>C (p.Phe986Leu) c.2949+6T>C (n.2949+6T>C) | |
16 | g.28836182T>G | CA395410233 | ATXN2L | c.3145T>G (p.Phe1049Val) c.3139+6T>G (n.3139+6T>G) c.3085+60T>G (n.3085+60T>G) c.1120T>G (p.Phe374Val) n.3519T>G c.280+60T>G (n.280+60T>G) c.3157+6T>G (n.3157+6T>G) c.2209T>G (n.2209T>G) c.354+60T>G c.1123T>G (p.Phe375Val) c.3160+6T>G (n.3160+6T>G) c.3142+6T>G (n.3142+6T>G) c.3106+60T>G (n.3106+60T>G) c.3166T>G (p.Phe1056Val) c.3103+60T>G (n.3103+60T>G) c.2980+6T>G (n.2980+6T>G) c.3088+6T>G (n.3088+6T>G) c.3070+6T>G (n.3070+6T>G) c.2794+6T>G (n.2794+6T>G) n.3375T>G c.2962+6T>G (n.2962+6T>G) c.2776+6T>G (n.2776+6T>G) n.3378T>G c.3163T>G (p.Phe1055Val) c.3088+60T>G (n.3088+60T>G) c.3148T>G (p.Phe1050Val) c.3067+6T>G (n.3067+6T>G) c.3139T>G (p.Phe1047Val) c.3013+60T>G (n.3013+60T>G) c.3076T>G (p.Phe1026Val) c.3073T>G (p.Phe1025Val) c.3085+6T>G (n.3085+6T>G) c.3016+60T>G (n.3016+60T>G) c.3031+60T>G (n.3031+60T>G) c.2956T>G (p.Phe986Val) c.2949+6T>G (n.2949+6T>G) | |
16 | g.28836183T>A | CA395410236 | ATXN2L | c.3146T>A (p.Phe1049Tyr) c.3139+7T>A (n.3139+7T>A) c.3085+61T>A (n.3085+61T>A) c.1121T>A (p.Phe374Tyr) n.3520T>A c.280+61T>A (n.280+61T>A) c.3157+7T>A (n.3157+7T>A) c.2210T>A (n.2210T>A) c.354+61T>A c.1124T>A (p.Phe375Tyr) c.3160+7T>A (n.3160+7T>A) c.3142+7T>A (n.3142+7T>A) c.3106+61T>A (n.3106+61T>A) c.3167T>A (p.Phe1056Tyr) c.3103+61T>A (n.3103+61T>A) c.2980+7T>A (n.2980+7T>A) c.3088+7T>A (n.3088+7T>A) c.3070+7T>A (n.3070+7T>A) c.2794+7T>A (n.2794+7T>A) n.3376T>A c.2962+7T>A (n.2962+7T>A) c.2776+7T>A (n.2776+7T>A) n.3379T>A c.3164T>A (p.Phe1055Tyr) c.3088+61T>A (n.3088+61T>A) c.3149T>A (p.Phe1050Tyr) c.3067+7T>A (n.3067+7T>A) c.3140T>A (p.Phe1047Tyr) c.3013+61T>A (n.3013+61T>A) c.3077T>A (p.Phe1026Tyr) c.3074T>A (p.Phe1025Tyr) c.3085+7T>A (n.3085+7T>A) c.3016+61T>A (n.3016+61T>A) c.3031+61T>A (n.3031+61T>A) c.2957T>A (p.Phe986Tyr) c.2949+7T>A (n.2949+7T>A) | |
16 | g.28836183T>C | CA395410235 | ATXN2L | c.3146T>C (p.Phe1049Ser) c.3139+7T>C (n.3139+7T>C) c.3085+61T>C (n.3085+61T>C) c.1121T>C (p.Phe374Ser) n.3520T>C c.280+61T>C (n.280+61T>C) c.3157+7T>C (n.3157+7T>C) c.2210T>C (n.2210T>C) c.354+61T>C c.1124T>C (p.Phe375Ser) c.3160+7T>C (n.3160+7T>C) c.3142+7T>C (n.3142+7T>C) c.3106+61T>C (n.3106+61T>C) c.3167T>C (p.Phe1056Ser) c.3103+61T>C (n.3103+61T>C) c.2980+7T>C (n.2980+7T>C) c.3088+7T>C (n.3088+7T>C) c.3070+7T>C (n.3070+7T>C) c.2794+7T>C (n.2794+7T>C) n.3376T>C c.2962+7T>C (n.2962+7T>C) c.2776+7T>C (n.2776+7T>C) n.3379T>C c.3164T>C (p.Phe1055Ser) c.3088+61T>C (n.3088+61T>C) c.3149T>C (p.Phe1050Ser) c.3067+7T>C (n.3067+7T>C) c.3140T>C (p.Phe1047Ser) c.3013+61T>C (n.3013+61T>C) c.3077T>C (p.Phe1026Ser) c.3074T>C (p.Phe1025Ser) c.3085+7T>C (n.3085+7T>C) c.3016+61T>C (n.3016+61T>C) c.3031+61T>C (n.3031+61T>C) c.2957T>C (p.Phe986Ser) c.2949+7T>C (n.2949+7T>C) | |
16 | g.28836183T>G | CA395410234 | ATXN2L | c.3146T>G (p.Phe1049Cys) c.3139+7T>G (n.3139+7T>G) c.3085+61T>G (n.3085+61T>G) c.1121T>G (p.Phe374Cys) n.3520T>G c.280+61T>G (n.280+61T>G) c.3157+7T>G (n.3157+7T>G) c.2210T>G (n.2210T>G) c.354+61T>G c.1124T>G (p.Phe375Cys) c.3160+7T>G (n.3160+7T>G) c.3142+7T>G (n.3142+7T>G) c.3106+61T>G (n.3106+61T>G) c.3167T>G (p.Phe1056Cys) c.3103+61T>G (n.3103+61T>G) c.2980+7T>G (n.2980+7T>G) c.3088+7T>G (n.3088+7T>G) c.3070+7T>G (n.3070+7T>G) c.2794+7T>G (n.2794+7T>G) n.3376T>G c.2962+7T>G (n.2962+7T>G) c.2776+7T>G (n.2776+7T>G) n.3379T>G c.3164T>G (p.Phe1055Cys) c.3088+61T>G (n.3088+61T>G) c.3149T>G (p.Phe1050Cys) c.3067+7T>G (n.3067+7T>G) c.3140T>G (p.Phe1047Cys) c.3013+61T>G (n.3013+61T>G) c.3077T>G (p.Phe1026Cys) c.3074T>G (p.Phe1025Cys) c.3085+7T>G (n.3085+7T>G) c.3016+61T>G (n.3016+61T>G) c.3031+61T>G (n.3031+61T>G) c.2957T>G (p.Phe986Cys) c.2949+7T>G (n.2949+7T>G) | |
16 | g.28836184C>A | CA395410237 | ATXN2L | c.3147C>A (p.Phe1049Leu) c.3139+8C>A (n.3139+8C>A) c.3085+62C>A (n.3085+62C>A) c.1122C>A (p.Phe374Leu) n.3521C>A c.280+62C>A (n.280+62C>A) c.3157+8C>A (n.3157+8C>A) c.2211C>A (n.2211C>A) c.354+62C>A c.1125C>A (p.Phe375Leu) c.3160+8C>A (n.3160+8C>A) c.3142+8C>A (n.3142+8C>A) c.3106+62C>A (n.3106+62C>A) c.3168C>A (p.Phe1056Leu) c.3103+62C>A (n.3103+62C>A) c.2980+8C>A (n.2980+8C>A) c.3088+8C>A (n.3088+8C>A) c.3070+8C>A (n.3070+8C>A) c.2794+8C>A (n.2794+8C>A) n.3377C>A c.2962+8C>A (n.2962+8C>A) c.2776+8C>A (n.2776+8C>A) n.3380C>A c.3165C>A (p.Phe1055Leu) c.3088+62C>A (n.3088+62C>A) c.3150C>A (p.Phe1050Leu) c.3067+8C>A (n.3067+8C>A) c.3141C>A (p.Phe1047Leu) c.3013+62C>A (n.3013+62C>A) c.3078C>A (p.Phe1026Leu) c.3075C>A (p.Phe1025Leu) c.3085+8C>A (n.3085+8C>A) c.3016+62C>A (n.3016+62C>A) c.3031+62C>A (n.3031+62C>A) c.2958C>A (p.Phe986Leu) c.2949+8C>A (n.2949+8C>A) | |
16 | g.28836184C= | CA2215807072 | ATXN2L | c.3147C= (p.Phe1049=) c.3139+8C= (n.3139+8C=) c.3085+62C= (n.3085+62C=) c.1122C= (p.Phe374=) n.3521C= c.280+62C= (n.280+62C=) c.3157+8C= (n.3157+8C=) c.2211C= (n.2211C=) c.354+62C= c.1125C= (p.Phe375=) c.3160+8C= (n.3160+8C=) c.3142+8C= (n.3142+8C=) c.3106+62C= (n.3106+62C=) c.3168C= (p.Phe1056=) c.3103+62C= (n.3103+62C=) c.2980+8C= (n.2980+8C=) c.3088+8C= (n.3088+8C=) c.3070+8C= (n.3070+8C=) c.2794+8C= (n.2794+8C=) n.3377C= c.2962+8C= (n.2962+8C=) c.2776+8C= (n.2776+8C=) n.3380C= c.3165C= (p.Phe1055=) c.3088+62C= (n.3088+62C=) c.3150C= (p.Phe1050=) c.3067+8C= (n.3067+8C=) c.3141C= (p.Phe1047=) c.3013+62C= (n.3013+62C=) c.3078C= (p.Phe1026=) c.3075C= (p.Phe1025=) c.3085+8C= (n.3085+8C=) c.3016+62C= (n.3016+62C=) c.3031+62C= (n.3031+62C=) c.2958C= (p.Phe986=) c.2949+8C= (n.2949+8C=) | |
16 | g.28836184C>G | CA395410238 | ATXN2L | c.3147C>G (p.Phe1049Leu) c.3139+8C>G (n.3139+8C>G) c.3085+62C>G (n.3085+62C>G) c.1122C>G (p.Phe374Leu) n.3521C>G c.280+62C>G (n.280+62C>G) c.3157+8C>G (n.3157+8C>G) c.2211C>G (n.2211C>G) c.354+62C>G c.1125C>G (p.Phe375Leu) c.3160+8C>G (n.3160+8C>G) c.3142+8C>G (n.3142+8C>G) c.3106+62C>G (n.3106+62C>G) c.3168C>G (p.Phe1056Leu) c.3103+62C>G (n.3103+62C>G) c.2980+8C>G (n.2980+8C>G) c.3088+8C>G (n.3088+8C>G) c.3070+8C>G (n.3070+8C>G) c.2794+8C>G (n.2794+8C>G) n.3377C>G c.2962+8C>G (n.2962+8C>G) c.2776+8C>G (n.2776+8C>G) n.3380C>G c.3165C>G (p.Phe1055Leu) c.3088+62C>G (n.3088+62C>G) c.3150C>G (p.Phe1050Leu) c.3067+8C>G (n.3067+8C>G) c.3141C>G (p.Phe1047Leu) c.3013+62C>G (n.3013+62C>G) c.3078C>G (p.Phe1026Leu) c.3075C>G (p.Phe1025Leu) c.3085+8C>G (n.3085+8C>G) c.3016+62C>G (n.3016+62C>G) c.3031+62C>G (n.3031+62C>G) c.2958C>G (p.Phe986Leu) c.2949+8C>G (n.2949+8C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28836185T>A | CA395410239 | ATXN2L | c.3148T>A (p.Ser1050Thr) c.3139+9T>A (n.3139+9T>A) c.3085+63T>A (n.3085+63T>A) c.1123T>A (p.Ser375Thr) n.3522T>A c.280+63T>A (n.280+63T>A) c.3157+9T>A (n.3157+9T>A) c.2212T>A (n.2212T>A) c.354+63T>A c.1126T>A (p.Ser376Thr) c.3160+9T>A (n.3160+9T>A) c.3142+9T>A (n.3142+9T>A) c.3106+63T>A (n.3106+63T>A) c.3169T>A (p.Ser1057Thr) c.3103+63T>A (n.3103+63T>A) c.2980+9T>A (n.2980+9T>A) c.3088+9T>A (n.3088+9T>A) c.3070+9T>A (n.3070+9T>A) c.2794+9T>A (n.2794+9T>A) n.3378T>A c.2962+9T>A (n.2962+9T>A) c.2776+9T>A (n.2776+9T>A) n.3381T>A c.3166T>A (p.Ser1056Thr) c.3088+63T>A (n.3088+63T>A) c.3151T>A (p.Ser1051Thr) c.3067+9T>A (n.3067+9T>A) c.3142T>A (p.Ser1048Thr) c.3013+63T>A (n.3013+63T>A) c.3079T>A (p.Ser1027Thr) c.3076T>A (p.Ser1026Thr) c.3085+9T>A (n.3085+9T>A) c.3016+63T>A (n.3016+63T>A) c.3031+63T>A (n.3031+63T>A) c.2959T>A (p.Ser987Thr) c.2949+9T>A (n.2949+9T>A) | |
16 | g.28836185T>C | CA395410241 | ATXN2L | c.3148T>C (p.Ser1050Pro) c.3139+9T>C (n.3139+9T>C) c.3085+63T>C (n.3085+63T>C) c.1123T>C (p.Ser375Pro) n.3522T>C c.280+63T>C (n.280+63T>C) c.3157+9T>C (n.3157+9T>C) c.2212T>C (n.2212T>C) c.354+63T>C c.1126T>C (p.Ser376Pro) c.3160+9T>C (n.3160+9T>C) c.3142+9T>C (n.3142+9T>C) c.3106+63T>C (n.3106+63T>C) c.3169T>C (p.Ser1057Pro) c.3103+63T>C (n.3103+63T>C) c.2980+9T>C (n.2980+9T>C) c.3088+9T>C (n.3088+9T>C) c.3070+9T>C (n.3070+9T>C) c.2794+9T>C (n.2794+9T>C) n.3378T>C c.2962+9T>C (n.2962+9T>C) c.2776+9T>C (n.2776+9T>C) n.3381T>C c.3166T>C (p.Ser1056Pro) c.3088+63T>C (n.3088+63T>C) c.3151T>C (p.Ser1051Pro) c.3067+9T>C (n.3067+9T>C) c.3142T>C (p.Ser1048Pro) c.3013+63T>C (n.3013+63T>C) c.3079T>C (p.Ser1027Pro) c.3076T>C (p.Ser1026Pro) c.3085+9T>C (n.3085+9T>C) c.3016+63T>C (n.3016+63T>C) c.3031+63T>C (n.3031+63T>C) c.2959T>C (p.Ser987Pro) c.2949+9T>C (n.2949+9T>C) | |
16 | g.28836185T>G | CA395410240 | ATXN2L | c.3148T>G (p.Ser1050Ala) c.3139+9T>G (n.3139+9T>G) c.3085+63T>G (n.3085+63T>G) c.1123T>G (p.Ser375Ala) n.3522T>G c.280+63T>G (n.280+63T>G) c.3157+9T>G (n.3157+9T>G) c.2212T>G (n.2212T>G) c.354+63T>G c.1126T>G (p.Ser376Ala) c.3160+9T>G (n.3160+9T>G) c.3142+9T>G (n.3142+9T>G) c.3106+63T>G (n.3106+63T>G) c.3169T>G (p.Ser1057Ala) c.3103+63T>G (n.3103+63T>G) c.2980+9T>G (n.2980+9T>G) c.3088+9T>G (n.3088+9T>G) c.3070+9T>G (n.3070+9T>G) c.2794+9T>G (n.2794+9T>G) n.3378T>G c.2962+9T>G (n.2962+9T>G) c.2776+9T>G (n.2776+9T>G) n.3381T>G c.3166T>G (p.Ser1056Ala) c.3088+63T>G (n.3088+63T>G) c.3151T>G (p.Ser1051Ala) c.3067+9T>G (n.3067+9T>G) c.3142T>G (p.Ser1048Ala) c.3013+63T>G (n.3013+63T>G) c.3079T>G (p.Ser1027Ala) c.3076T>G (p.Ser1026Ala) c.3085+9T>G (n.3085+9T>G) c.3016+63T>G (n.3016+63T>G) c.3031+63T>G (n.3031+63T>G) c.2959T>G (p.Ser987Ala) c.2949+9T>G (n.2949+9T>G) | |
16 | g.28836186C>A | CA395410242 | ATXN2L | c.3149C>A (p.Ser1050Ter) c.3139+10C>A (n.3139+10C>A) c.3085+64C>A (n.3085+64C>A) c.1124C>A (p.Ser375Ter) n.3523C>A c.280+64C>A (n.280+64C>A) c.3157+10C>A (n.3157+10C>A) c.2213C>A (n.2213C>A) c.354+64C>A c.1127C>A (p.Ser376Ter) c.3160+10C>A (n.3160+10C>A) c.3142+10C>A (n.3142+10C>A) c.3106+64C>A (n.3106+64C>A) c.3170C>A (p.Ser1057Ter) c.3103+64C>A (n.3103+64C>A) c.2980+10C>A (n.2980+10C>A) c.3088+10C>A (n.3088+10C>A) c.3070+10C>A (n.3070+10C>A) c.2794+10C>A (n.2794+10C>A) n.3379C>A c.2962+10C>A (n.2962+10C>A) c.2776+10C>A (n.2776+10C>A) n.3382C>A c.3167C>A (p.Ser1056Ter) c.3088+64C>A (n.3088+64C>A) c.3152C>A (p.Ser1051Ter) c.3067+10C>A (n.3067+10C>A) c.3143C>A (p.Ser1048Ter) c.3013+64C>A (n.3013+64C>A) c.3080C>A (p.Ser1027Ter) c.3077C>A (p.Ser1026Ter) c.3085+10C>A (n.3085+10C>A) c.3016+64C>A (n.3016+64C>A) c.3031+64C>A (n.3031+64C>A) c.2960C>A (p.Ser987Ter) c.2949+10C>A (n.2949+10C>A) | |
16 | g.28836186C>G | CA395410244 | ATXN2L | c.3149C>G (p.Ser1050Ter) c.3139+10C>G (n.3139+10C>G) c.3085+64C>G (n.3085+64C>G) c.1124C>G (p.Ser375Ter) n.3523C>G c.280+64C>G (n.280+64C>G) c.3157+10C>G (n.3157+10C>G) c.2213C>G (n.2213C>G) c.354+64C>G c.1127C>G (p.Ser376Ter) c.3160+10C>G (n.3160+10C>G) c.3142+10C>G (n.3142+10C>G) c.3106+64C>G (n.3106+64C>G) c.3170C>G (p.Ser1057Ter) c.3103+64C>G (n.3103+64C>G) c.2980+10C>G (n.2980+10C>G) c.3088+10C>G (n.3088+10C>G) c.3070+10C>G (n.3070+10C>G) c.2794+10C>G (n.2794+10C>G) n.3379C>G c.2962+10C>G (n.2962+10C>G) c.2776+10C>G (n.2776+10C>G) n.3382C>G c.3167C>G (p.Ser1056Ter) c.3088+64C>G (n.3088+64C>G) c.3152C>G (p.Ser1051Ter) c.3067+10C>G (n.3067+10C>G) c.3143C>G (p.Ser1048Ter) c.3013+64C>G (n.3013+64C>G) c.3080C>G (p.Ser1027Ter) c.3077C>G (p.Ser1026Ter) c.3085+10C>G (n.3085+10C>G) c.3016+64C>G (n.3016+64C>G) c.3031+64C>G (n.3031+64C>G) c.2960C>G (p.Ser987Ter) c.2949+10C>G (n.2949+10C>G) | |
16 | g.28836186C>T | CA395410243 | ATXN2L | c.3149C>T (p.Ser1050Leu) c.3139+10C>T (n.3139+10C>T) c.3085+64C>T (n.3085+64C>T) c.1124C>T (p.Ser375Leu) n.3523C>T c.280+64C>T (n.280+64C>T) c.3157+10C>T (n.3157+10C>T) c.2213C>T (n.2213C>T) c.354+64C>T c.1127C>T (p.Ser376Leu) c.3160+10C>T (n.3160+10C>T) c.3142+10C>T (n.3142+10C>T) c.3106+64C>T (n.3106+64C>T) c.3170C>T (p.Ser1057Leu) c.3103+64C>T (n.3103+64C>T) c.2980+10C>T (n.2980+10C>T) c.3088+10C>T (n.3088+10C>T) c.3070+10C>T (n.3070+10C>T) c.2794+10C>T (n.2794+10C>T) n.3379C>T c.2962+10C>T (n.2962+10C>T) c.2776+10C>T (n.2776+10C>T) n.3382C>T c.3167C>T (p.Ser1056Leu) c.3088+64C>T (n.3088+64C>T) c.3152C>T (p.Ser1051Leu) c.3067+10C>T (n.3067+10C>T) c.3143C>T (p.Ser1048Leu) c.3013+64C>T (n.3013+64C>T) c.3080C>T (p.Ser1027Leu) c.3077C>T (p.Ser1026Leu) c.3085+10C>T (n.3085+10C>T) c.3016+64C>T (n.3016+64C>T) c.3031+64C>T (n.3031+64C>T) c.2960C>T (p.Ser987Leu) c.2949+10C>T (n.2949+10C>T) |