Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28835696G>A | CA395408415 | ATXN2L | c.2833G>A (p.Val945Met) c.808G>A (p.Val270Met) n.3207G>A c.28G>A (p.Val10Met) c.2851G>A (p.Val951Met) c.1897G>A (n.1897G>A) c.102G>A c.811G>A (p.Val271Met) c.353G>A c.2854G>A (p.Val952Met) c.2836G>A (p.Val946Met) c.2674G>A (p.Val892Met) c.2782G>A (p.Val928Met) c.2764G>A (p.Val922Met) c.2488G>A (p.Val830Met) n.3063G>A c.2656G>A (p.Val886Met) c.2470G>A (p.Val824Met) n.3066G>A c.2761G>A (p.Val921Met) c.2827G>A (p.Val943Met) c.2779G>A (p.Val927Met) c.2644G>A (p.Val882Met) | |
16 | g.28835696G>C | CA395408417 | ATXN2L | c.2833G>C (p.Val945Leu) c.808G>C (p.Val270Leu) n.3207G>C c.28G>C (p.Val10Leu) c.2851G>C (p.Val951Leu) c.1897G>C (n.1897G>C) c.102G>C c.811G>C (p.Val271Leu) c.353G>C c.2854G>C (p.Val952Leu) c.2836G>C (p.Val946Leu) c.2674G>C (p.Val892Leu) c.2782G>C (p.Val928Leu) c.2764G>C (p.Val922Leu) c.2488G>C (p.Val830Leu) n.3063G>C c.2656G>C (p.Val886Leu) c.2470G>C (p.Val824Leu) n.3066G>C c.2761G>C (p.Val921Leu) c.2827G>C (p.Val943Leu) c.2779G>C (p.Val927Leu) c.2644G>C (p.Val882Leu) | |
16 | g.28835696G>T | CA395408419 | ATXN2L | c.2833G>T (p.Val945Leu) c.808G>T (p.Val270Leu) n.3207G>T c.28G>T (p.Val10Leu) c.2851G>T (p.Val951Leu) c.1897G>T (n.1897G>T) c.102G>T c.811G>T (p.Val271Leu) c.353G>T c.2854G>T (p.Val952Leu) c.2836G>T (p.Val946Leu) c.2674G>T (p.Val892Leu) c.2782G>T (p.Val928Leu) c.2764G>T (p.Val922Leu) c.2488G>T (p.Val830Leu) n.3063G>T c.2656G>T (p.Val886Leu) c.2470G>T (p.Val824Leu) n.3066G>T c.2761G>T (p.Val921Leu) c.2827G>T (p.Val943Leu) c.2779G>T (p.Val927Leu) c.2644G>T (p.Val882Leu) | |
16 | g.28835697T>A | CA395408424 | ATXN2L | c.2834T>A (p.Val945Glu) c.809T>A (p.Val270Glu) n.3208T>A c.29T>A (p.Val10Glu) c.2852T>A (p.Val951Glu) c.1898T>A (n.1898T>A) c.103T>A c.812T>A (p.Val271Glu) c.354T>A c.2855T>A (p.Val952Glu) c.2837T>A (p.Val946Glu) c.2675T>A (p.Val892Glu) c.2783T>A (p.Val928Glu) c.2765T>A (p.Val922Glu) c.2489T>A (p.Val830Glu) n.3064T>A c.2657T>A (p.Val886Glu) c.2471T>A (p.Val824Glu) n.3067T>A c.2762T>A (p.Val921Glu) c.2828T>A (p.Val943Glu) c.2780T>A (p.Val927Glu) c.2645T>A (p.Val882Glu) | |
16 | g.28835697T>C | CA395408421 | ATXN2L | c.2834T>C (p.Val945Ala) c.809T>C (p.Val270Ala) n.3208T>C c.29T>C (p.Val10Ala) c.2852T>C (p.Val951Ala) c.1898T>C (n.1898T>C) c.103T>C c.812T>C (p.Val271Ala) c.354T>C c.2855T>C (p.Val952Ala) c.2837T>C (p.Val946Ala) c.2675T>C (p.Val892Ala) c.2783T>C (p.Val928Ala) c.2765T>C (p.Val922Ala) c.2489T>C (p.Val830Ala) n.3064T>C c.2657T>C (p.Val886Ala) c.2471T>C (p.Val824Ala) n.3067T>C c.2762T>C (p.Val921Ala) c.2828T>C (p.Val943Ala) c.2780T>C (p.Val927Ala) c.2645T>C (p.Val882Ala) | |
16 | g.28835697T>G | CA395408423 | ATXN2L | c.2834T>G (p.Val945Gly) c.809T>G (p.Val270Gly) n.3208T>G c.29T>G (p.Val10Gly) c.2852T>G (p.Val951Gly) c.1898T>G (n.1898T>G) c.103T>G c.812T>G (p.Val271Gly) c.354T>G c.2855T>G (p.Val952Gly) c.2837T>G (p.Val946Gly) c.2675T>G (p.Val892Gly) c.2783T>G (p.Val928Gly) c.2765T>G (p.Val922Gly) c.2489T>G (p.Val830Gly) n.3064T>G c.2657T>G (p.Val886Gly) c.2471T>G (p.Val824Gly) n.3067T>G c.2762T>G (p.Val921Gly) c.2828T>G (p.Val943Gly) c.2780T>G (p.Val927Gly) c.2645T>G (p.Val882Gly) | |
16 | g.28835698G>A | CA494869242 | ATXN2L | c.2835G>A (p.Val945=) c.810G>A (p.Val270=) n.3209G>A c.30G>A (p.Val10=) c.2853G>A (p.Val951=) c.1899G>A (n.1899G>A) c.104G>A c.813G>A (p.Val271=) c.355G>A c.2856G>A (p.Val952=) c.2838G>A (p.Val946=) c.2676G>A (p.Val892=) c.2784G>A (p.Val928=) c.2766G>A (p.Val922=) c.2490G>A (p.Val830=) n.3065G>A c.2658G>A (p.Val886=) c.2472G>A (p.Val824=) n.3068G>A c.2763G>A (p.Val921=) c.2829G>A (p.Val943=) c.2781G>A (p.Val927=) c.2646G>A (p.Val882=) | |
16 | g.28835698G>C | CA494869245 | ATXN2L | c.2835G>C (p.Val945=) c.810G>C (p.Val270=) n.3209G>C c.30G>C (p.Val10=) c.2853G>C (p.Val951=) c.1899G>C (n.1899G>C) c.104G>C c.813G>C (p.Val271=) c.355G>C c.2856G>C (p.Val952=) c.2838G>C (p.Val946=) c.2676G>C (p.Val892=) c.2784G>C (p.Val928=) c.2766G>C (p.Val922=) c.2490G>C (p.Val830=) n.3065G>C c.2658G>C (p.Val886=) c.2472G>C (p.Val824=) n.3068G>C c.2763G>C (p.Val921=) c.2829G>C (p.Val943=) c.2781G>C (p.Val927=) c.2646G>C (p.Val882=) | |
16 | g.28835698G>T | CA494869250 | ATXN2L | c.2835G>T (p.Val945=) c.810G>T (p.Val270=) n.3209G>T c.30G>T (p.Val10=) c.2853G>T (p.Val951=) c.1899G>T (n.1899G>T) c.104G>T c.813G>T (p.Val271=) c.355G>T c.2856G>T (p.Val952=) c.2838G>T (p.Val946=) c.2676G>T (p.Val892=) c.2784G>T (p.Val928=) c.2766G>T (p.Val922=) c.2490G>T (p.Val830=) n.3065G>T c.2658G>T (p.Val886=) c.2472G>T (p.Val824=) n.3068G>T c.2763G>T (p.Val921=) c.2829G>T (p.Val943=) c.2781G>T (p.Val927=) c.2646G>T (p.Val882=) | |
16 | g.28835699T>A | CA395408427 | ATXN2L | c.2836T>A (p.Tyr946Asn) c.811T>A (p.Tyr271Asn) n.3210T>A c.31T>A (p.Tyr11Asn) c.2854T>A (p.Tyr952Asn) c.1900T>A (n.1900T>A) c.105T>A c.814T>A (p.Tyr272Asn) c.356T>A c.2857T>A (p.Tyr953Asn) c.2839T>A (p.Tyr947Asn) c.2677T>A (p.Tyr893Asn) c.2785T>A (p.Tyr929Asn) c.2767T>A (p.Tyr923Asn) c.2491T>A (p.Tyr831Asn) n.3066T>A c.2659T>A (p.Tyr887Asn) c.2473T>A (p.Tyr825Asn) n.3069T>A c.2764T>A (p.Tyr922Asn) c.2830T>A (p.Tyr944Asn) c.2782T>A (p.Tyr928Asn) c.2647T>A (p.Tyr883Asn) | |
16 | g.28835699T>C | CA395408429 | ATXN2L | c.2836T>C (p.Tyr946His) c.811T>C (p.Tyr271His) n.3210T>C c.31T>C (p.Tyr11His) c.2854T>C (p.Tyr952His) c.1900T>C (n.1900T>C) c.105T>C c.814T>C (p.Tyr272His) c.356T>C c.2857T>C (p.Tyr953His) c.2839T>C (p.Tyr947His) c.2677T>C (p.Tyr893His) c.2785T>C (p.Tyr929His) c.2767T>C (p.Tyr923His) c.2491T>C (p.Tyr831His) n.3066T>C c.2659T>C (p.Tyr887His) c.2473T>C (p.Tyr825His) n.3069T>C c.2764T>C (p.Tyr922His) c.2830T>C (p.Tyr944His) c.2782T>C (p.Tyr928His) c.2647T>C (p.Tyr883His) | |
16 | g.28835699T>G | CA395408431 | ATXN2L | c.2836T>G (p.Tyr946Asp) c.811T>G (p.Tyr271Asp) n.3210T>G c.31T>G (p.Tyr11Asp) c.2854T>G (p.Tyr952Asp) c.1900T>G (n.1900T>G) c.105T>G c.814T>G (p.Tyr272Asp) c.356T>G c.2857T>G (p.Tyr953Asp) c.2839T>G (p.Tyr947Asp) c.2677T>G (p.Tyr893Asp) c.2785T>G (p.Tyr929Asp) c.2767T>G (p.Tyr923Asp) c.2491T>G (p.Tyr831Asp) n.3066T>G c.2659T>G (p.Tyr887Asp) c.2473T>G (p.Tyr825Asp) n.3069T>G c.2764T>G (p.Tyr922Asp) c.2830T>G (p.Tyr944Asp) c.2782T>G (p.Tyr928Asp) c.2647T>G (p.Tyr883Asp) | |
16 | g.28835700A>C | CA395408433 | ATXN2L | c.2837A>C (p.Tyr946Ser) c.812A>C (p.Tyr271Ser) n.3211A>C c.32A>C (p.Tyr11Ser) c.2855A>C (p.Tyr952Ser) c.1901A>C (n.1901A>C) c.106A>C c.815A>C (p.Tyr272Ser) c.357A>C c.2858A>C (p.Tyr953Ser) c.2840A>C (p.Tyr947Ser) c.2678A>C (p.Tyr893Ser) c.2786A>C (p.Tyr929Ser) c.2768A>C (p.Tyr923Ser) c.2492A>C (p.Tyr831Ser) n.3067A>C c.2660A>C (p.Tyr887Ser) c.2474A>C (p.Tyr825Ser) n.3070A>C c.2765A>C (p.Tyr922Ser) c.2831A>C (p.Tyr944Ser) c.2783A>C (p.Tyr928Ser) c.2648A>C (p.Tyr883Ser) | |
16 | g.28835700A>G | CA395408435 | ATXN2L | c.2837A>G (p.Tyr946Cys) c.812A>G (p.Tyr271Cys) n.3211A>G c.32A>G (p.Tyr11Cys) c.2855A>G (p.Tyr952Cys) c.1901A>G (n.1901A>G) c.106A>G c.815A>G (p.Tyr272Cys) c.357A>G c.2858A>G (p.Tyr953Cys) c.2840A>G (p.Tyr947Cys) c.2678A>G (p.Tyr893Cys) c.2786A>G (p.Tyr929Cys) c.2768A>G (p.Tyr923Cys) c.2492A>G (p.Tyr831Cys) n.3067A>G c.2660A>G (p.Tyr887Cys) c.2474A>G (p.Tyr825Cys) n.3070A>G c.2765A>G (p.Tyr922Cys) c.2831A>G (p.Tyr944Cys) c.2783A>G (p.Tyr928Cys) c.2648A>G (p.Tyr883Cys) | |
16 | g.28835700A>T | CA395408436 | ATXN2L | c.2837A>T (p.Tyr946Phe) c.812A>T (p.Tyr271Phe) n.3211A>T c.32A>T (p.Tyr11Phe) c.2855A>T (p.Tyr952Phe) c.1901A>T (n.1901A>T) c.106A>T c.815A>T (p.Tyr272Phe) c.357A>T c.2858A>T (p.Tyr953Phe) c.2840A>T (p.Tyr947Phe) c.2678A>T (p.Tyr893Phe) c.2786A>T (p.Tyr929Phe) c.2768A>T (p.Tyr923Phe) c.2492A>T (p.Tyr831Phe) n.3067A>T c.2660A>T (p.Tyr887Phe) c.2474A>T (p.Tyr825Phe) n.3070A>T c.2765A>T (p.Tyr922Phe) c.2831A>T (p.Tyr944Phe) c.2783A>T (p.Tyr928Phe) c.2648A>T (p.Tyr883Phe) | gnomAD v4 |
16 | g.28835701T>A | CA395408439 | ATXN2L | c.2838T>A (p.Tyr946Ter) c.813T>A (p.Tyr271Ter) n.3212T>A c.33T>A (p.Tyr11Ter) c.2856T>A (p.Tyr952Ter) c.1902T>A (n.1902T>A) c.107T>A c.816T>A (p.Tyr272Ter) c.358T>A c.2859T>A (p.Tyr953Ter) c.2841T>A (p.Tyr947Ter) c.2679T>A (p.Tyr893Ter) c.2787T>A (p.Tyr929Ter) c.2769T>A (p.Tyr923Ter) c.2493T>A (p.Tyr831Ter) n.3068T>A c.2661T>A (p.Tyr887Ter) c.2475T>A (p.Tyr825Ter) n.3071T>A c.2766T>A (p.Tyr922Ter) c.2832T>A (p.Tyr944Ter) c.2784T>A (p.Tyr928Ter) c.2649T>A (p.Tyr883Ter) | |
16 | g.28835701T>C | CA494869273 | ATXN2L | c.2838T>C (p.Tyr946=) c.813T>C (p.Tyr271=) n.3212T>C c.33T>C (p.Tyr11=) c.2856T>C (p.Tyr952=) c.1902T>C (n.1902T>C) c.107T>C c.816T>C (p.Tyr272=) c.358T>C c.2859T>C (p.Tyr953=) c.2841T>C (p.Tyr947=) c.2679T>C (p.Tyr893=) c.2787T>C (p.Tyr929=) c.2769T>C (p.Tyr923=) c.2493T>C (p.Tyr831=) n.3068T>C c.2661T>C (p.Tyr887=) c.2475T>C (p.Tyr825=) n.3071T>C c.2766T>C (p.Tyr922=) c.2832T>C (p.Tyr944=) c.2784T>C (p.Tyr928=) c.2649T>C (p.Tyr883=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835701T>G | CA395408440 | ATXN2L | c.2838T>G (p.Tyr946Ter) c.813T>G (p.Tyr271Ter) n.3212T>G c.33T>G (p.Tyr11Ter) c.2856T>G (p.Tyr952Ter) c.1902T>G (n.1902T>G) c.107T>G c.816T>G (p.Tyr272Ter) c.358T>G c.2859T>G (p.Tyr953Ter) c.2841T>G (p.Tyr947Ter) c.2679T>G (p.Tyr893Ter) c.2787T>G (p.Tyr929Ter) c.2769T>G (p.Tyr923Ter) c.2493T>G (p.Tyr831Ter) n.3068T>G c.2661T>G (p.Tyr887Ter) c.2475T>G (p.Tyr825Ter) n.3071T>G c.2766T>G (p.Tyr922Ter) c.2832T>G (p.Tyr944Ter) c.2784T>G (p.Tyr928Ter) c.2649T>G (p.Tyr883Ter) | |
16 | g.28835701T= | CA2215806435 | ATXN2L | c.2838T= (p.Tyr946=) c.813T= (p.Tyr271=) n.3212T= c.33T= (p.Tyr11=) c.2856T= (p.Tyr952=) c.1902T= (n.1902T=) c.107T= c.816T= (p.Tyr272=) c.358T= c.2859T= (p.Tyr953=) c.2841T= (p.Tyr947=) c.2679T= (p.Tyr893=) c.2787T= (p.Tyr929=) c.2769T= (p.Tyr923=) c.2493T= (p.Tyr831=) n.3068T= c.2661T= (p.Tyr887=) c.2475T= (p.Tyr825=) n.3071T= c.2766T= (p.Tyr922=) c.2832T= (p.Tyr944=) c.2784T= (p.Tyr928=) c.2649T= (p.Tyr883=) | |
16 | g.28835702G>A | CA395408442 | ATXN2L | c.2839G>A (p.Ala947Thr) c.814G>A (p.Ala272Thr) n.3213G>A c.34G>A (p.Ala12Thr) c.2857G>A (p.Ala953Thr) c.1903G>A (n.1903G>A) c.108G>A c.817G>A (p.Ala273Thr) c.359G>A c.2860G>A (p.Ala954Thr) c.2842G>A (p.Ala948Thr) c.2680G>A (p.Ala894Thr) c.2788G>A (p.Ala930Thr) c.2770G>A (p.Ala924Thr) c.2494G>A (p.Ala832Thr) n.3069G>A c.2662G>A (p.Ala888Thr) c.2476G>A (p.Ala826Thr) n.3072G>A c.2767G>A (p.Ala923Thr) c.2833G>A (p.Ala945Thr) c.2785G>A (p.Ala929Thr) c.2650G>A (p.Ala884Thr) | |
16 | g.28835702G>C | CA395408444 | ATXN2L | c.2839G>C (p.Ala947Pro) c.814G>C (p.Ala272Pro) n.3213G>C c.34G>C (p.Ala12Pro) c.2857G>C (p.Ala953Pro) c.1903G>C (n.1903G>C) c.108G>C c.817G>C (p.Ala273Pro) c.359G>C c.2860G>C (p.Ala954Pro) c.2842G>C (p.Ala948Pro) c.2680G>C (p.Ala894Pro) c.2788G>C (p.Ala930Pro) c.2770G>C (p.Ala924Pro) c.2494G>C (p.Ala832Pro) n.3069G>C c.2662G>C (p.Ala888Pro) c.2476G>C (p.Ala826Pro) n.3072G>C c.2767G>C (p.Ala923Pro) c.2833G>C (p.Ala945Pro) c.2785G>C (p.Ala929Pro) c.2650G>C (p.Ala884Pro) | |
16 | g.28835702G>T | CA395408446 | ATXN2L | c.2839G>T (p.Ala947Ser) c.814G>T (p.Ala272Ser) n.3213G>T c.34G>T (p.Ala12Ser) c.2857G>T (p.Ala953Ser) c.1903G>T (n.1903G>T) c.108G>T c.817G>T (p.Ala273Ser) c.359G>T c.2860G>T (p.Ala954Ser) c.2842G>T (p.Ala948Ser) c.2680G>T (p.Ala894Ser) c.2788G>T (p.Ala930Ser) c.2770G>T (p.Ala924Ser) c.2494G>T (p.Ala832Ser) n.3069G>T c.2662G>T (p.Ala888Ser) c.2476G>T (p.Ala826Ser) n.3072G>T c.2767G>T (p.Ala923Ser) c.2833G>T (p.Ala945Ser) c.2785G>T (p.Ala929Ser) c.2650G>T (p.Ala884Ser) | |
16 | g.28835703C>A | CA395408448 | ATXN2L | c.2840C>A (p.Ala947Asp) c.815C>A (p.Ala272Asp) n.3214C>A c.35C>A (p.Ala12Asp) c.2858C>A (p.Ala953Asp) c.1904C>A (n.1904C>A) c.109C>A c.818C>A (p.Ala273Asp) c.360C>A c.2861C>A (p.Ala954Asp) c.2843C>A (p.Ala948Asp) c.2681C>A (p.Ala894Asp) c.2789C>A (p.Ala930Asp) c.2771C>A (p.Ala924Asp) c.2495C>A (p.Ala832Asp) n.3070C>A c.2663C>A (p.Ala888Asp) c.2477C>A (p.Ala826Asp) n.3073C>A c.2768C>A (p.Ala923Asp) c.2834C>A (p.Ala945Asp) c.2786C>A (p.Ala929Asp) c.2651C>A (p.Ala884Asp) | |
16 | g.28835703C>G | CA395408452 | ATXN2L | c.2840C>G (p.Ala947Gly) c.815C>G (p.Ala272Gly) n.3214C>G c.35C>G (p.Ala12Gly) c.2858C>G (p.Ala953Gly) c.1904C>G (n.1904C>G) c.109C>G c.818C>G (p.Ala273Gly) c.360C>G c.2861C>G (p.Ala954Gly) c.2843C>G (p.Ala948Gly) c.2681C>G (p.Ala894Gly) c.2789C>G (p.Ala930Gly) c.2771C>G (p.Ala924Gly) c.2495C>G (p.Ala832Gly) n.3070C>G c.2663C>G (p.Ala888Gly) c.2477C>G (p.Ala826Gly) n.3073C>G c.2768C>G (p.Ala923Gly) c.2834C>G (p.Ala945Gly) c.2786C>G (p.Ala929Gly) c.2651C>G (p.Ala884Gly) | |
16 | g.28835703C>T | CA395408450 | ATXN2L | c.2840C>T (p.Ala947Val) c.815C>T (p.Ala272Val) n.3214C>T c.35C>T (p.Ala12Val) c.2858C>T (p.Ala953Val) c.1904C>T (n.1904C>T) c.109C>T c.818C>T (p.Ala273Val) c.360C>T c.2861C>T (p.Ala954Val) c.2843C>T (p.Ala948Val) c.2681C>T (p.Ala894Val) c.2789C>T (p.Ala930Val) c.2771C>T (p.Ala924Val) c.2495C>T (p.Ala832Val) n.3070C>T c.2663C>T (p.Ala888Val) c.2477C>T (p.Ala826Val) n.3073C>T c.2768C>T (p.Ala923Val) c.2834C>T (p.Ala945Val) c.2786C>T (p.Ala929Val) c.2651C>T (p.Ala884Val) | gnomAD v4 |
16 | g.28835704C>A | CA494869299 | ATXN2L | c.2841C>A (p.Ala947=) c.816C>A (p.Ala272=) n.3215C>A c.36C>A (p.Ala12=) c.2859C>A (p.Ala953=) c.1905C>A (n.1905C>A) c.110C>A c.819C>A (p.Ala273=) c.361C>A c.2862C>A (p.Ala954=) c.2844C>A (p.Ala948=) c.2682C>A (p.Ala894=) c.2790C>A (p.Ala930=) c.2772C>A (p.Ala924=) c.2496C>A (p.Ala832=) n.3071C>A c.2664C>A (p.Ala888=) c.2478C>A (p.Ala826=) n.3074C>A c.2769C>A (p.Ala923=) c.2835C>A (p.Ala945=) c.2787C>A (p.Ala929=) c.2652C>A (p.Ala884=) | |
16 | g.28835704C= | CA2215806439 | ATXN2L | c.2841C= (p.Ala947=) c.816C= (p.Ala272=) n.3215C= c.36C= (p.Ala12=) c.2859C= (p.Ala953=) c.1905C= (n.1905C=) c.110C= c.819C= (p.Ala273=) c.361C= c.2862C= (p.Ala954=) c.2844C= (p.Ala948=) c.2682C= (p.Ala894=) c.2790C= (p.Ala930=) c.2772C= (p.Ala924=) c.2496C= (p.Ala832=) n.3071C= c.2664C= (p.Ala888=) c.2478C= (p.Ala826=) n.3074C= c.2769C= (p.Ala923=) c.2835C= (p.Ala945=) c.2787C= (p.Ala929=) c.2652C= (p.Ala884=) | |
16 | g.28835704C>G | CA494869302 | ATXN2L | c.2841C>G (p.Ala947=) c.816C>G (p.Ala272=) n.3215C>G c.36C>G (p.Ala12=) c.2859C>G (p.Ala953=) c.1905C>G (n.1905C>G) c.110C>G c.819C>G (p.Ala273=) c.361C>G c.2862C>G (p.Ala954=) c.2844C>G (p.Ala948=) c.2682C>G (p.Ala894=) c.2790C>G (p.Ala930=) c.2772C>G (p.Ala924=) c.2496C>G (p.Ala832=) n.3071C>G c.2664C>G (p.Ala888=) c.2478C>G (p.Ala826=) n.3074C>G c.2769C>G (p.Ala923=) c.2835C>G (p.Ala945=) c.2787C>G (p.Ala929=) c.2652C>G (p.Ala884=) | |
16 | g.28835704C>T | CA7985101 | ATXN2L | c.2841C>T (p.Ala947=) c.816C>T (p.Ala272=) n.3215C>T c.36C>T (p.Ala12=) c.2859C>T (p.Ala953=) c.1905C>T (n.1905C>T) c.110C>T c.819C>T (p.Ala273=) c.361C>T c.2862C>T (p.Ala954=) c.2844C>T (p.Ala948=) c.2682C>T (p.Ala894=) c.2790C>T (p.Ala930=) c.2772C>T (p.Ala924=) c.2496C>T (p.Ala832=) n.3071C>T c.2664C>T (p.Ala888=) c.2478C>T (p.Ala826=) n.3074C>T c.2769C>T (p.Ala923=) c.2835C>T (p.Ala945=) c.2787C>T (p.Ala929=) c.2652C>T (p.Ala884=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835705A>C | CA395408457 | ATXN2L | c.2842A>C (p.Ile948Leu) c.817A>C (p.Ile273Leu) n.3216A>C c.37A>C (p.Ile13Leu) c.2860A>C (p.Ile954Leu) c.1906A>C (n.1906A>C) c.111A>C c.820A>C (p.Ile274Leu) c.362A>C c.2863A>C (p.Ile955Leu) c.2845A>C (p.Ile949Leu) c.2683A>C (p.Ile895Leu) c.2791A>C (p.Ile931Leu) c.2773A>C (p.Ile925Leu) c.2497A>C (p.Ile833Leu) n.3072A>C c.2665A>C (p.Ile889Leu) c.2479A>C (p.Ile827Leu) n.3075A>C c.2770A>C (p.Ile924Leu) c.2836A>C (p.Ile946Leu) c.2788A>C (p.Ile930Leu) c.2653A>C (p.Ile885Leu) | |
16 | g.28835705A>G | CA395408455 | ATXN2L | c.2842A>G (p.Ile948Val) c.817A>G (p.Ile273Val) n.3216A>G c.37A>G (p.Ile13Val) c.2860A>G (p.Ile954Val) c.1906A>G (n.1906A>G) c.111A>G c.820A>G (p.Ile274Val) c.362A>G c.2863A>G (p.Ile955Val) c.2845A>G (p.Ile949Val) c.2683A>G (p.Ile895Val) c.2791A>G (p.Ile931Val) c.2773A>G (p.Ile925Val) c.2497A>G (p.Ile833Val) n.3072A>G c.2665A>G (p.Ile889Val) c.2479A>G (p.Ile827Val) n.3075A>G c.2770A>G (p.Ile924Val) c.2836A>G (p.Ile946Val) c.2788A>G (p.Ile930Val) c.2653A>G (p.Ile885Val) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28835705A>T | CA395408459 | ATXN2L | c.2842A>T (p.Ile948Phe) c.817A>T (p.Ile273Phe) n.3216A>T c.37A>T (p.Ile13Phe) c.2860A>T (p.Ile954Phe) c.1906A>T (n.1906A>T) c.111A>T c.820A>T (p.Ile274Phe) c.362A>T c.2863A>T (p.Ile955Phe) c.2845A>T (p.Ile949Phe) c.2683A>T (p.Ile895Phe) c.2791A>T (p.Ile931Phe) c.2773A>T (p.Ile925Phe) c.2497A>T (p.Ile833Phe) n.3072A>T c.2665A>T (p.Ile889Phe) c.2479A>T (p.Ile827Phe) n.3075A>T c.2770A>T (p.Ile924Phe) c.2836A>T (p.Ile946Phe) c.2788A>T (p.Ile930Phe) c.2653A>T (p.Ile885Phe) | gnomAD v4 |
16 | g.28835706T>A | CA395408461 | ATXN2L | c.2843T>A (p.Ile948Asn) c.818T>A (p.Ile273Asn) n.3217T>A c.38T>A (p.Ile13Asn) c.2861T>A (p.Ile954Asn) c.1907T>A (n.1907T>A) c.112T>A c.821T>A (p.Ile274Asn) c.363T>A c.2864T>A (p.Ile955Asn) c.2846T>A (p.Ile949Asn) c.2684T>A (p.Ile895Asn) c.2792T>A (p.Ile931Asn) c.2774T>A (p.Ile925Asn) c.2498T>A (p.Ile833Asn) n.3073T>A c.2666T>A (p.Ile889Asn) c.2480T>A (p.Ile827Asn) n.3076T>A c.2771T>A (p.Ile924Asn) c.2837T>A (p.Ile946Asn) c.2789T>A (p.Ile930Asn) c.2654T>A (p.Ile885Asn) | |
16 | g.28835706T>C | CA395408465 | ATXN2L | c.2843T>C (p.Ile948Thr) c.818T>C (p.Ile273Thr) n.3217T>C c.38T>C (p.Ile13Thr) c.2861T>C (p.Ile954Thr) c.1907T>C (n.1907T>C) c.112T>C c.821T>C (p.Ile274Thr) c.363T>C c.2864T>C (p.Ile955Thr) c.2846T>C (p.Ile949Thr) c.2684T>C (p.Ile895Thr) c.2792T>C (p.Ile931Thr) c.2774T>C (p.Ile925Thr) c.2498T>C (p.Ile833Thr) n.3073T>C c.2666T>C (p.Ile889Thr) c.2480T>C (p.Ile827Thr) n.3076T>C c.2771T>C (p.Ile924Thr) c.2837T>C (p.Ile946Thr) c.2789T>C (p.Ile930Thr) c.2654T>C (p.Ile885Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835706T>G | CA395408463 | ATXN2L | c.2843T>G (p.Ile948Ser) c.818T>G (p.Ile273Ser) n.3217T>G c.38T>G (p.Ile13Ser) c.2861T>G (p.Ile954Ser) c.1907T>G (n.1907T>G) c.112T>G c.821T>G (p.Ile274Ser) c.363T>G c.2864T>G (p.Ile955Ser) c.2846T>G (p.Ile949Ser) c.2684T>G (p.Ile895Ser) c.2792T>G (p.Ile931Ser) c.2774T>G (p.Ile925Ser) c.2498T>G (p.Ile833Ser) n.3073T>G c.2666T>G (p.Ile889Ser) c.2480T>G (p.Ile827Ser) n.3076T>G c.2771T>G (p.Ile924Ser) c.2837T>G (p.Ile946Ser) c.2789T>G (p.Ile930Ser) c.2654T>G (p.Ile885Ser) | |
16 | g.28835706_28835709delinsTCCA | CA2215806444 | ATXN2L | c.2843_2846delinsTCCA (p.Ile948=) c.818_821delinsTCCA (p.Ile273=) n.3217_3220delinsTCCA c.38_41delinsTCCA (p.Ile13=) c.2861_2864delinsTCCA (p.Ile954=) c.1907_1910delinsTCCA (n.1907_1910delinsTCCA) c.112_115delinsTCCA c.821_824delinsTCCA (p.Ile274=) c.363_366delinsTCCA c.2864_2867delinsTCCA (p.Ile955=) c.2846_2849delinsTCCA (p.Ile949=) c.2684_2687delinsTCCA (p.Ile895=) c.2792_2795delinsTCCA (p.Ile931=) c.2774_2777delinsTCCA (p.Ile925=) c.2498_2501delinsTCCA (p.Ile833=) n.3073_3076delinsTCCA c.2666_2669delinsTCCA (p.Ile889=) c.2480_2483delinsTCCA (p.Ile827=) n.3076_3079delinsTCCA c.2771_2774delinsTCCA (p.Ile924=) c.2837_2840delinsTCCA (p.Ile946=) c.2789_2792delinsTCCA (p.Ile930=) c.2654_2657delinsTCCA (p.Ile885=) | |
16 | g.28835707C>A | CA494869314 | ATXN2L | c.2844C>A (p.Ile948=) c.819C>A (p.Ile273=) n.3218C>A c.39C>A (p.Ile13=) c.2862C>A (p.Ile954=) c.1908C>A (n.1908C>A) c.113C>A c.822C>A (p.Ile274=) c.364C>A c.2865C>A (p.Ile955=) c.2847C>A (p.Ile949=) c.2685C>A (p.Ile895=) c.2793C>A (p.Ile931=) c.2775C>A (p.Ile925=) c.2499C>A (p.Ile833=) n.3074C>A c.2667C>A (p.Ile889=) c.2481C>A (p.Ile827=) n.3077C>A c.2772C>A (p.Ile924=) c.2838C>A (p.Ile946=) c.2790C>A (p.Ile930=) c.2655C>A (p.Ile885=) | |
16 | g.28835707C>G | CA395408467 | ATXN2L | c.2844C>G (p.Ile948Met) c.819C>G (p.Ile273Met) n.3218C>G c.39C>G (p.Ile13Met) c.2862C>G (p.Ile954Met) c.1908C>G (n.1908C>G) c.113C>G c.822C>G (p.Ile274Met) c.364C>G c.2865C>G (p.Ile955Met) c.2847C>G (p.Ile949Met) c.2685C>G (p.Ile895Met) c.2793C>G (p.Ile931Met) c.2775C>G (p.Ile925Met) c.2499C>G (p.Ile833Met) n.3074C>G c.2667C>G (p.Ile889Met) c.2481C>G (p.Ile827Met) n.3077C>G c.2772C>G (p.Ile924Met) c.2838C>G (p.Ile946Met) c.2790C>G (p.Ile930Met) c.2655C>G (p.Ile885Met) | |
16 | g.28835707C>T | CA494869324 | ATXN2L | c.2844C>T (p.Ile948=) c.819C>T (p.Ile273=) n.3218C>T c.39C>T (p.Ile13=) c.2862C>T (p.Ile954=) c.1908C>T (n.1908C>T) c.113C>T c.822C>T (p.Ile274=) c.364C>T c.2865C>T (p.Ile955=) c.2847C>T (p.Ile949=) c.2685C>T (p.Ile895=) c.2793C>T (p.Ile931=) c.2775C>T (p.Ile925=) c.2499C>T (p.Ile833=) n.3074C>T c.2667C>T (p.Ile889=) c.2481C>T (p.Ile827=) n.3077C>T c.2772C>T (p.Ile924=) c.2838C>T (p.Ile946=) c.2790C>T (p.Ile930=) c.2655C>T (p.Ile885=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28835713_28835715del | CA7985102 | ATXN2L | c.2850_2852del (p.His950del) c.825_827del (p.His275del) n.3224_3226del c.45_47del (p.His15del) c.2868_2870del (p.His956del) c.1914_1916del (n.1914_1916del) c.119_121del c.828_830del (p.His276del) c.370_372del c.2871_2873del (p.His957del) c.2853_2855del (p.His951del) c.2691_2693del (p.His897del) c.2799_2801del (p.His933del) c.2781_2783del (p.His927del) c.2505_2507del (p.His835del) n.3080_3082del c.2673_2675del (p.His891del) c.2487_2489del (p.His829del) n.3083_3085del c.2778_2780del (p.His926del) c.2844_2846del (p.His948del) c.2796_2798del (p.His932del) c.2661_2663del (p.His887del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835708C>A | CA395408470 | ATXN2L | c.2845C>A (p.His949Asn) c.820C>A (p.His274Asn) n.3219C>A c.40C>A (p.His14Asn) c.2863C>A (p.His955Asn) c.1909C>A (n.1909C>A) c.114C>A c.823C>A (p.His275Asn) c.365C>A c.2866C>A (p.His956Asn) c.2848C>A (p.His950Asn) c.2686C>A (p.His896Asn) c.2794C>A (p.His932Asn) c.2776C>A (p.His926Asn) c.2500C>A (p.His834Asn) n.3075C>A c.2668C>A (p.His890Asn) c.2482C>A (p.His828Asn) n.3078C>A c.2773C>A (p.His925Asn) c.2839C>A (p.His947Asn) c.2791C>A (p.His931Asn) c.2656C>A (p.His886Asn) | |
16 | g.28835708C>G | CA395408474 | ATXN2L | c.2845C>G (p.His949Asp) c.820C>G (p.His274Asp) n.3219C>G c.40C>G (p.His14Asp) c.2863C>G (p.His955Asp) c.1909C>G (n.1909C>G) c.114C>G c.823C>G (p.His275Asp) c.365C>G c.2866C>G (p.His956Asp) c.2848C>G (p.His950Asp) c.2686C>G (p.His896Asp) c.2794C>G (p.His932Asp) c.2776C>G (p.His926Asp) c.2500C>G (p.His834Asp) n.3075C>G c.2668C>G (p.His890Asp) c.2482C>G (p.His828Asp) n.3078C>G c.2773C>G (p.His925Asp) c.2839C>G (p.His947Asp) c.2791C>G (p.His931Asp) c.2656C>G (p.His886Asp) | |
16 | g.28835708C>T | CA395408476 | ATXN2L | c.2845C>T (p.His949Tyr) c.820C>T (p.His274Tyr) n.3219C>T c.40C>T (p.His14Tyr) c.2863C>T (p.His955Tyr) c.1909C>T (n.1909C>T) c.114C>T c.823C>T (p.His275Tyr) c.365C>T c.2866C>T (p.His956Tyr) c.2848C>T (p.His950Tyr) c.2686C>T (p.His896Tyr) c.2794C>T (p.His932Tyr) c.2776C>T (p.His926Tyr) c.2500C>T (p.His834Tyr) n.3075C>T c.2668C>T (p.His890Tyr) c.2482C>T (p.His828Tyr) n.3078C>T c.2773C>T (p.His925Tyr) c.2839C>T (p.His947Tyr) c.2791C>T (p.His931Tyr) c.2656C>T (p.His886Tyr) | gnomAD v4 |
16 | g.28835709A= | CA2215806449 | ATXN2L | c.2846A= (p.His949=) c.821A= (p.His274=) n.3220A= c.41A= (p.His14=) c.2864A= (p.His955=) c.1910A= (n.1910A=) c.115A= c.824A= (p.His275=) c.366A= c.2867A= (p.His956=) c.2849A= (p.His950=) c.2687A= (p.His896=) c.2795A= (p.His932=) c.2777A= (p.His926=) c.2501A= (p.His834=) n.3076A= c.2669A= (p.His890=) c.2483A= (p.His828=) n.3079A= c.2774A= (p.His925=) c.2840A= (p.His947=) c.2792A= (p.His931=) c.2657A= (p.His886=) | |
16 | g.28835709A>C | CA395408478 | ATXN2L | c.2846A>C (p.His949Pro) c.821A>C (p.His274Pro) n.3220A>C c.41A>C (p.His14Pro) c.2864A>C (p.His955Pro) c.1910A>C (n.1910A>C) c.115A>C c.824A>C (p.His275Pro) c.366A>C c.2867A>C (p.His956Pro) c.2849A>C (p.His950Pro) c.2687A>C (p.His896Pro) c.2795A>C (p.His932Pro) c.2777A>C (p.His926Pro) c.2501A>C (p.His834Pro) n.3076A>C c.2669A>C (p.His890Pro) c.2483A>C (p.His828Pro) n.3079A>C c.2774A>C (p.His925Pro) c.2840A>C (p.His947Pro) c.2792A>C (p.His931Pro) c.2657A>C (p.His886Pro) | |
16 | g.28835709A>G | CA395408479 | ATXN2L | c.2846A>G (p.His949Arg) c.821A>G (p.His274Arg) n.3220A>G c.41A>G (p.His14Arg) c.2864A>G (p.His955Arg) c.1910A>G (n.1910A>G) c.115A>G c.824A>G (p.His275Arg) c.366A>G c.2867A>G (p.His956Arg) c.2849A>G (p.His950Arg) c.2687A>G (p.His896Arg) c.2795A>G (p.His932Arg) c.2777A>G (p.His926Arg) c.2501A>G (p.His834Arg) n.3076A>G c.2669A>G (p.His890Arg) c.2483A>G (p.His828Arg) n.3079A>G c.2774A>G (p.His925Arg) c.2840A>G (p.His947Arg) c.2792A>G (p.His931Arg) c.2657A>G (p.His886Arg) | |
16 | g.28835709A>T | CA395408481 | ATXN2L | c.2846A>T (p.His949Leu) c.821A>T (p.His274Leu) n.3220A>T c.41A>T (p.His14Leu) c.2864A>T (p.His955Leu) c.1910A>T (n.1910A>T) c.115A>T c.824A>T (p.His275Leu) c.366A>T c.2867A>T (p.His956Leu) c.2849A>T (p.His950Leu) c.2687A>T (p.His896Leu) c.2795A>T (p.His932Leu) c.2777A>T (p.His926Leu) c.2501A>T (p.His834Leu) n.3076A>T c.2669A>T (p.His890Leu) c.2483A>T (p.His828Leu) n.3079A>T c.2774A>T (p.His925Leu) c.2840A>T (p.His947Leu) c.2792A>T (p.His931Leu) c.2657A>T (p.His886Leu) | |
16 | g.28835709_28835710insTGC | CA2215806451 | ATXN2L | c.2846_2847insTGC (p.His949_His950insAla) c.821_822insTGC (p.His274_His275insAla) n.3220_3221insTGC c.41_42insTGC (p.His14_His15insAla) c.2864_2865insTGC (p.His955_His956insAla) c.1910_1911insTGC (n.1910_1911insTGC) c.115_116insTGC c.824_825insTGC (p.His275_His276insAla) c.366_367insTGC c.2867_2868insTGC (p.His956_His957insAla) c.2849_2850insTGC (p.His950_His951insAla) c.2687_2688insTGC (p.His896_His897insAla) c.2795_2796insTGC (p.His932_His933insAla) c.2777_2778insTGC (p.His926_His927insAla) c.2501_2502insTGC (p.His834_His835insAla) n.3076_3077insTGC c.2669_2670insTGC (p.His890_His891insAla) c.2483_2484insTGC (p.His828_His829insAla) n.3079_3080insTGC c.2774_2775insTGC (p.His925_His926insAla) c.2840_2841insTGC (p.His947_His948insAla) c.2792_2793insTGC (p.His931_His932insAla) c.2657_2658insTGC (p.His886_His887insAla) | dbSNP |
16 | g.28835710C>A | CA395408483 | ATXN2L | c.2847C>A (p.His949Gln) c.822C>A (p.His274Gln) n.3221C>A c.42C>A (p.His14Gln) c.2865C>A (p.His955Gln) c.1911C>A (n.1911C>A) c.116C>A c.825C>A (p.His275Gln) c.367C>A c.2868C>A (p.His956Gln) c.2850C>A (p.His950Gln) c.2688C>A (p.His896Gln) c.2796C>A (p.His932Gln) c.2778C>A (p.His926Gln) c.2502C>A (p.His834Gln) n.3077C>A c.2670C>A (p.His890Gln) c.2484C>A (p.His828Gln) n.3080C>A c.2775C>A (p.His925Gln) c.2841C>A (p.His947Gln) c.2793C>A (p.His931Gln) c.2658C>A (p.His886Gln) | |
16 | g.28835710C>G | CA395408485 | ATXN2L | c.2847C>G (p.His949Gln) c.822C>G (p.His274Gln) n.3221C>G c.42C>G (p.His14Gln) c.2865C>G (p.His955Gln) c.1911C>G (n.1911C>G) c.116C>G c.825C>G (p.His275Gln) c.367C>G c.2868C>G (p.His956Gln) c.2850C>G (p.His950Gln) c.2688C>G (p.His896Gln) c.2796C>G (p.His932Gln) c.2778C>G (p.His926Gln) c.2502C>G (p.His834Gln) n.3077C>G c.2670C>G (p.His890Gln) c.2484C>G (p.His828Gln) n.3080C>G c.2775C>G (p.His925Gln) c.2841C>G (p.His947Gln) c.2793C>G (p.His931Gln) c.2658C>G (p.His886Gln) | |
16 | g.28835710C>T | CA494869340 | ATXN2L | c.2847C>T (p.His949=) c.822C>T (p.His274=) n.3221C>T c.42C>T (p.His14=) c.2865C>T (p.His955=) c.1911C>T (n.1911C>T) c.116C>T c.825C>T (p.His275=) c.367C>T c.2868C>T (p.His956=) c.2850C>T (p.His950=) c.2688C>T (p.His896=) c.2796C>T (p.His932=) c.2778C>T (p.His926=) c.2502C>T (p.His834=) n.3077C>T c.2670C>T (p.His890=) c.2484C>T (p.His828=) n.3080C>T c.2775C>T (p.His925=) c.2841C>T (p.His947=) c.2793C>T (p.His931=) c.2658C>T (p.His886=) | |
16 | g.28835711C>A | CA395408490 | ATXN2L | c.2848C>A (p.His950Asn) c.823C>A (p.His275Asn) n.3222C>A c.43C>A (p.His15Asn) c.2866C>A (p.His956Asn) c.1912C>A (n.1912C>A) c.117C>A c.826C>A (p.His276Asn) c.368C>A c.2869C>A (p.His957Asn) c.2851C>A (p.His951Asn) c.2689C>A (p.His897Asn) c.2797C>A (p.His933Asn) c.2779C>A (p.His927Asn) c.2503C>A (p.His835Asn) n.3078C>A c.2671C>A (p.His891Asn) c.2485C>A (p.His829Asn) n.3081C>A c.2776C>A (p.His926Asn) c.2842C>A (p.His948Asn) c.2794C>A (p.His932Asn) c.2659C>A (p.His887Asn) | |
16 | g.28835711C>G | CA395408489 | ATXN2L | c.2848C>G (p.His950Asp) c.823C>G (p.His275Asp) n.3222C>G c.43C>G (p.His15Asp) c.2866C>G (p.His956Asp) c.1912C>G (n.1912C>G) c.117C>G c.826C>G (p.His276Asp) c.368C>G c.2869C>G (p.His957Asp) c.2851C>G (p.His951Asp) c.2689C>G (p.His897Asp) c.2797C>G (p.His933Asp) c.2779C>G (p.His927Asp) c.2503C>G (p.His835Asp) n.3078C>G c.2671C>G (p.His891Asp) c.2485C>G (p.His829Asp) n.3081C>G c.2776C>G (p.His926Asp) c.2842C>G (p.His948Asp) c.2794C>G (p.His932Asp) c.2659C>G (p.His887Asp) | |
16 | g.28835711C>T | CA395408487 | ATXN2L | c.2848C>T (p.His950Tyr) c.823C>T (p.His275Tyr) n.3222C>T c.43C>T (p.His15Tyr) c.2866C>T (p.His956Tyr) c.1912C>T (n.1912C>T) c.117C>T c.826C>T (p.His276Tyr) c.368C>T c.2869C>T (p.His957Tyr) c.2851C>T (p.His951Tyr) c.2689C>T (p.His897Tyr) c.2797C>T (p.His933Tyr) c.2779C>T (p.His927Tyr) c.2503C>T (p.His835Tyr) n.3078C>T c.2671C>T (p.His891Tyr) c.2485C>T (p.His829Tyr) n.3081C>T c.2776C>T (p.His926Tyr) c.2842C>T (p.His948Tyr) c.2794C>T (p.His932Tyr) c.2659C>T (p.His887Tyr) | gnomAD v4 |
16 | g.28835712A>C | CA395408493 | ATXN2L | c.2849A>C (p.His950Pro) c.824A>C (p.His275Pro) n.3223A>C c.44A>C (p.His15Pro) c.2867A>C (p.His956Pro) c.1913A>C (n.1913A>C) c.118A>C c.827A>C (p.His276Pro) c.369A>C c.2870A>C (p.His957Pro) c.2852A>C (p.His951Pro) c.2690A>C (p.His897Pro) c.2798A>C (p.His933Pro) c.2780A>C (p.His927Pro) c.2504A>C (p.His835Pro) n.3079A>C c.2672A>C (p.His891Pro) c.2486A>C (p.His829Pro) n.3082A>C c.2777A>C (p.His926Pro) c.2843A>C (p.His948Pro) c.2795A>C (p.His932Pro) c.2660A>C (p.His887Pro) | |
16 | g.28835712A>G | CA395408494 | ATXN2L | c.2849A>G (p.His950Arg) c.824A>G (p.His275Arg) n.3223A>G c.44A>G (p.His15Arg) c.2867A>G (p.His956Arg) c.1913A>G (n.1913A>G) c.118A>G c.827A>G (p.His276Arg) c.369A>G c.2870A>G (p.His957Arg) c.2852A>G (p.His951Arg) c.2690A>G (p.His897Arg) c.2798A>G (p.His933Arg) c.2780A>G (p.His927Arg) c.2504A>G (p.His835Arg) n.3079A>G c.2672A>G (p.His891Arg) c.2486A>G (p.His829Arg) n.3082A>G c.2777A>G (p.His926Arg) c.2843A>G (p.His948Arg) c.2795A>G (p.His932Arg) c.2660A>G (p.His887Arg) | |
16 | g.28835712A>T | CA395408496 | ATXN2L | c.2849A>T (p.His950Leu) c.824A>T (p.His275Leu) n.3223A>T c.44A>T (p.His15Leu) c.2867A>T (p.His956Leu) c.1913A>T (n.1913A>T) c.118A>T c.827A>T (p.His276Leu) c.369A>T c.2870A>T (p.His957Leu) c.2852A>T (p.His951Leu) c.2690A>T (p.His897Leu) c.2798A>T (p.His933Leu) c.2780A>T (p.His927Leu) c.2504A>T (p.His835Leu) n.3079A>T c.2672A>T (p.His891Leu) c.2486A>T (p.His829Leu) n.3082A>T c.2777A>T (p.His926Leu) c.2843A>T (p.His948Leu) c.2795A>T (p.His932Leu) c.2660A>T (p.His887Leu) | |
16 | g.28835713C>A | CA395408498 | ATXN2L | c.2850C>A (p.His950Gln) c.825C>A (p.His275Gln) n.3224C>A c.45C>A (p.His15Gln) c.2868C>A (p.His956Gln) c.1914C>A (n.1914C>A) c.119C>A c.828C>A (p.His276Gln) c.370C>A c.2871C>A (p.His957Gln) c.2853C>A (p.His951Gln) c.2691C>A (p.His897Gln) c.2799C>A (p.His933Gln) c.2781C>A (p.His927Gln) c.2505C>A (p.His835Gln) n.3080C>A c.2673C>A (p.His891Gln) c.2487C>A (p.His829Gln) n.3083C>A c.2778C>A (p.His926Gln) c.2844C>A (p.His948Gln) c.2796C>A (p.His932Gln) c.2661C>A (p.His887Gln) | |
16 | g.28835713C= | CA2215806454 | ATXN2L | c.2850C= (p.His950=) c.825C= (p.His275=) n.3224C= c.45C= (p.His15=) c.2868C= (p.His956=) c.1914C= (n.1914C=) c.119C= c.828C= (p.His276=) c.370C= c.2871C= (p.His957=) c.2853C= (p.His951=) c.2691C= (p.His897=) c.2799C= (p.His933=) c.2781C= (p.His927=) c.2505C= (p.His835=) n.3080C= c.2673C= (p.His891=) c.2487C= (p.His829=) n.3083C= c.2778C= (p.His926=) c.2844C= (p.His948=) c.2796C= (p.His932=) c.2661C= (p.His887=) | |
16 | g.28835713C>G | CA7985103 | ATXN2L | c.2850C>G (p.His950Gln) c.825C>G (p.His275Gln) n.3224C>G c.45C>G (p.His15Gln) c.2868C>G (p.His956Gln) c.1914C>G (n.1914C>G) c.119C>G c.828C>G (p.His276Gln) c.370C>G c.2871C>G (p.His957Gln) c.2853C>G (p.His951Gln) c.2691C>G (p.His897Gln) c.2799C>G (p.His933Gln) c.2781C>G (p.His927Gln) c.2505C>G (p.His835Gln) n.3080C>G c.2673C>G (p.His891Gln) c.2487C>G (p.His829Gln) n.3083C>G c.2778C>G (p.His926Gln) c.2844C>G (p.His948Gln) c.2796C>G (p.His932Gln) c.2661C>G (p.His887Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835713C>T | CA494869348 | ATXN2L | c.2850C>T (p.His950=) c.825C>T (p.His275=) n.3224C>T c.45C>T (p.His15=) c.2868C>T (p.His956=) c.1914C>T (n.1914C>T) c.119C>T c.828C>T (p.His276=) c.370C>T c.2871C>T (p.His957=) c.2853C>T (p.His951=) c.2691C>T (p.His897=) c.2799C>T (p.His933=) c.2781C>T (p.His927=) c.2505C>T (p.His835=) n.3080C>T c.2673C>T (p.His891=) c.2487C>T (p.His829=) n.3083C>T c.2778C>T (p.His926=) c.2844C>T (p.His948=) c.2796C>T (p.His932=) c.2661C>T (p.His887=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835714C>A | CA395408501 | ATXN2L | c.2851C>A (p.Gln951Lys) c.826C>A (p.Gln276Lys) n.3225C>A c.46C>A (p.Gln16Lys) c.2869C>A (p.Gln957Lys) c.1915C>A (n.1915C>A) c.120C>A c.829C>A (p.Gln277Lys) c.371C>A c.2872C>A (p.Gln958Lys) c.2854C>A (p.Gln952Lys) c.2692C>A (p.Gln898Lys) c.2800C>A (p.Gln934Lys) c.2782C>A (p.Gln928Lys) c.2506C>A (p.Gln836Lys) n.3081C>A c.2674C>A (p.Gln892Lys) c.2488C>A (p.Gln830Lys) n.3084C>A c.2779C>A (p.Gln927Lys) c.2845C>A (p.Gln949Lys) c.2797C>A (p.Gln933Lys) c.2662C>A (p.Gln888Lys) | |
16 | g.28835714C>G | CA395408503 | ATXN2L | c.2851C>G (p.Gln951Glu) c.826C>G (p.Gln276Glu) n.3225C>G c.46C>G (p.Gln16Glu) c.2869C>G (p.Gln957Glu) c.1915C>G (n.1915C>G) c.120C>G c.829C>G (p.Gln277Glu) c.371C>G c.2872C>G (p.Gln958Glu) c.2854C>G (p.Gln952Glu) c.2692C>G (p.Gln898Glu) c.2800C>G (p.Gln934Glu) c.2782C>G (p.Gln928Glu) c.2506C>G (p.Gln836Glu) n.3081C>G c.2674C>G (p.Gln892Glu) c.2488C>G (p.Gln830Glu) n.3084C>G c.2779C>G (p.Gln927Glu) c.2845C>G (p.Gln949Glu) c.2797C>G (p.Gln933Glu) c.2662C>G (p.Gln888Glu) | |
16 | g.28835714C>T | CA395408505 | ATXN2L | c.2851C>T (p.Gln951Ter) c.826C>T (p.Gln276Ter) n.3225C>T c.46C>T (p.Gln16Ter) c.2869C>T (p.Gln957Ter) c.1915C>T (n.1915C>T) c.120C>T c.829C>T (p.Gln277Ter) c.371C>T c.2872C>T (p.Gln958Ter) c.2854C>T (p.Gln952Ter) c.2692C>T (p.Gln898Ter) c.2800C>T (p.Gln934Ter) c.2782C>T (p.Gln928Ter) c.2506C>T (p.Gln836Ter) n.3081C>T c.2674C>T (p.Gln892Ter) c.2488C>T (p.Gln830Ter) n.3084C>T c.2779C>T (p.Gln927Ter) c.2845C>T (p.Gln949Ter) c.2797C>T (p.Gln933Ter) c.2662C>T (p.Gln888Ter) | |
16 | g.28835715A>C | CA395408506 | ATXN2L | c.2852A>C (p.Gln951Pro) c.827A>C (p.Gln276Pro) n.3226A>C c.47A>C (p.Gln16Pro) c.2870A>C (p.Gln957Pro) c.1916A>C (n.1916A>C) c.121A>C c.830A>C (p.Gln277Pro) c.372A>C c.2873A>C (p.Gln958Pro) c.2855A>C (p.Gln952Pro) c.2693A>C (p.Gln898Pro) c.2801A>C (p.Gln934Pro) c.2783A>C (p.Gln928Pro) c.2507A>C (p.Gln836Pro) n.3082A>C c.2675A>C (p.Gln892Pro) c.2489A>C (p.Gln830Pro) n.3085A>C c.2780A>C (p.Gln927Pro) c.2846A>C (p.Gln949Pro) c.2798A>C (p.Gln933Pro) c.2663A>C (p.Gln888Pro) | |
16 | g.28835715A>G | CA395408507 | ATXN2L | c.2852A>G (p.Gln951Arg) c.827A>G (p.Gln276Arg) n.3226A>G c.47A>G (p.Gln16Arg) c.2870A>G (p.Gln957Arg) c.1916A>G (n.1916A>G) c.121A>G c.830A>G (p.Gln277Arg) c.372A>G c.2873A>G (p.Gln958Arg) c.2855A>G (p.Gln952Arg) c.2693A>G (p.Gln898Arg) c.2801A>G (p.Gln934Arg) c.2783A>G (p.Gln928Arg) c.2507A>G (p.Gln836Arg) n.3082A>G c.2675A>G (p.Gln892Arg) c.2489A>G (p.Gln830Arg) n.3085A>G c.2780A>G (p.Gln927Arg) c.2846A>G (p.Gln949Arg) c.2798A>G (p.Gln933Arg) c.2663A>G (p.Gln888Arg) | |
16 | g.28835715A>T | CA395408509 | ATXN2L | c.2852A>T (p.Gln951Leu) c.827A>T (p.Gln276Leu) n.3226A>T c.47A>T (p.Gln16Leu) c.2870A>T (p.Gln957Leu) c.1916A>T (n.1916A>T) c.121A>T c.830A>T (p.Gln277Leu) c.372A>T c.2873A>T (p.Gln958Leu) c.2855A>T (p.Gln952Leu) c.2693A>T (p.Gln898Leu) c.2801A>T (p.Gln934Leu) c.2783A>T (p.Gln928Leu) c.2507A>T (p.Gln836Leu) n.3082A>T c.2675A>T (p.Gln892Leu) c.2489A>T (p.Gln830Leu) n.3085A>T c.2780A>T (p.Gln927Leu) c.2846A>T (p.Gln949Leu) c.2798A>T (p.Gln933Leu) c.2663A>T (p.Gln888Leu) | |
16 | g.28835716G>A | CA494869355 | ATXN2L | c.2853G>A (p.Gln951=) c.828G>A (p.Gln276=) n.3227G>A c.48G>A (p.Gln16=) c.2871G>A (p.Gln957=) c.1917G>A (n.1917G>A) c.122G>A c.831G>A (p.Gln277=) c.373G>A c.2874G>A (p.Gln958=) c.2856G>A (p.Gln952=) c.2694G>A (p.Gln898=) c.2802G>A (p.Gln934=) c.2784G>A (p.Gln928=) c.2508G>A (p.Gln836=) n.3083G>A c.2676G>A (p.Gln892=) c.2490G>A (p.Gln830=) n.3086G>A c.2781G>A (p.Gln927=) c.2847G>A (p.Gln949=) c.2799G>A (p.Gln933=) c.2664G>A (p.Gln888=) | |
16 | g.28835716G>C | CA395408513 | ATXN2L | c.2853G>C (p.Gln951His) c.828G>C (p.Gln276His) n.3227G>C c.48G>C (p.Gln16His) c.2871G>C (p.Gln957His) c.1917G>C (n.1917G>C) c.122G>C c.831G>C (p.Gln277His) c.373G>C c.2874G>C (p.Gln958His) c.2856G>C (p.Gln952His) c.2694G>C (p.Gln898His) c.2802G>C (p.Gln934His) c.2784G>C (p.Gln928His) c.2508G>C (p.Gln836His) n.3083G>C c.2676G>C (p.Gln892His) c.2490G>C (p.Gln830His) n.3086G>C c.2781G>C (p.Gln927His) c.2847G>C (p.Gln949His) c.2799G>C (p.Gln933His) c.2664G>C (p.Gln888His) | |
16 | g.28835716G>T | CA395408511 | ATXN2L | c.2853G>T (p.Gln951His) c.828G>T (p.Gln276His) n.3227G>T c.48G>T (p.Gln16His) c.2871G>T (p.Gln957His) c.1917G>T (n.1917G>T) c.122G>T c.831G>T (p.Gln277His) c.373G>T c.2874G>T (p.Gln958His) c.2856G>T (p.Gln952His) c.2694G>T (p.Gln898His) c.2802G>T (p.Gln934His) c.2784G>T (p.Gln928His) c.2508G>T (p.Gln836His) n.3083G>T c.2676G>T (p.Gln892His) c.2490G>T (p.Gln830His) n.3086G>T c.2781G>T (p.Gln927His) c.2847G>T (p.Gln949His) c.2799G>T (p.Gln933His) c.2664G>T (p.Gln888His) | |
16 | g.28835717C>A | CA395408514 | ATXN2L | c.2854C>A (p.Gln952Lys) c.829C>A (p.Gln277Lys) n.3228C>A c.49C>A (p.Gln17Lys) c.2872C>A (p.Gln958Lys) c.1918C>A (n.1918C>A) c.123C>A c.832C>A (p.Gln278Lys) c.374C>A c.2875C>A (p.Gln959Lys) c.2857C>A (p.Gln953Lys) c.2695C>A (p.Gln899Lys) c.2803C>A (p.Gln935Lys) c.2785C>A (p.Gln929Lys) c.2509C>A (p.Gln837Lys) n.3084C>A c.2677C>A (p.Gln893Lys) c.2491C>A (p.Gln831Lys) n.3087C>A c.2782C>A (p.Gln928Lys) c.2848C>A (p.Gln950Lys) c.2800C>A (p.Gln934Lys) c.2665C>A (p.Gln889Lys) | |
16 | g.28835717C>G | CA395408515 | ATXN2L | c.2854C>G (p.Gln952Glu) c.829C>G (p.Gln277Glu) n.3228C>G c.49C>G (p.Gln17Glu) c.2872C>G (p.Gln958Glu) c.1918C>G (n.1918C>G) c.123C>G c.832C>G (p.Gln278Glu) c.374C>G c.2875C>G (p.Gln959Glu) c.2857C>G (p.Gln953Glu) c.2695C>G (p.Gln899Glu) c.2803C>G (p.Gln935Glu) c.2785C>G (p.Gln929Glu) c.2509C>G (p.Gln837Glu) n.3084C>G c.2677C>G (p.Gln893Glu) c.2491C>G (p.Gln831Glu) n.3087C>G c.2782C>G (p.Gln928Glu) c.2848C>G (p.Gln950Glu) c.2800C>G (p.Gln934Glu) c.2665C>G (p.Gln889Glu) | |
16 | g.28835717C>T | CA395408517 | ATXN2L | c.2854C>T (p.Gln952Ter) c.829C>T (p.Gln277Ter) n.3228C>T c.49C>T (p.Gln17Ter) c.2872C>T (p.Gln958Ter) c.1918C>T (n.1918C>T) c.123C>T c.832C>T (p.Gln278Ter) c.374C>T c.2875C>T (p.Gln959Ter) c.2857C>T (p.Gln953Ter) c.2695C>T (p.Gln899Ter) c.2803C>T (p.Gln935Ter) c.2785C>T (p.Gln929Ter) c.2509C>T (p.Gln837Ter) n.3084C>T c.2677C>T (p.Gln893Ter) c.2491C>T (p.Gln831Ter) n.3087C>T c.2782C>T (p.Gln928Ter) c.2848C>T (p.Gln950Ter) c.2800C>T (p.Gln934Ter) c.2665C>T (p.Gln889Ter) | |
16 | g.28835718A>C | CA395408519 | ATXN2L | c.2855A>C (p.Gln952Pro) c.830A>C (p.Gln277Pro) n.3229A>C c.50A>C (p.Gln17Pro) c.2873A>C (p.Gln958Pro) c.1919A>C (n.1919A>C) c.124A>C c.833A>C (p.Gln278Pro) c.375A>C c.2876A>C (p.Gln959Pro) c.2858A>C (p.Gln953Pro) c.2696A>C (p.Gln899Pro) c.2804A>C (p.Gln935Pro) c.2786A>C (p.Gln929Pro) c.2510A>C (p.Gln837Pro) n.3085A>C c.2678A>C (p.Gln893Pro) c.2492A>C (p.Gln831Pro) n.3088A>C c.2783A>C (p.Gln928Pro) c.2849A>C (p.Gln950Pro) c.2801A>C (p.Gln934Pro) c.2666A>C (p.Gln889Pro) | |
16 | g.28835718A>G | CA395408521 | ATXN2L | c.2855A>G (p.Gln952Arg) c.830A>G (p.Gln277Arg) n.3229A>G c.50A>G (p.Gln17Arg) c.2873A>G (p.Gln958Arg) c.1919A>G (n.1919A>G) c.124A>G c.833A>G (p.Gln278Arg) c.375A>G c.2876A>G (p.Gln959Arg) c.2858A>G (p.Gln953Arg) c.2696A>G (p.Gln899Arg) c.2804A>G (p.Gln935Arg) c.2786A>G (p.Gln929Arg) c.2510A>G (p.Gln837Arg) n.3085A>G c.2678A>G (p.Gln893Arg) c.2492A>G (p.Gln831Arg) n.3088A>G c.2783A>G (p.Gln928Arg) c.2849A>G (p.Gln950Arg) c.2801A>G (p.Gln934Arg) c.2666A>G (p.Gln889Arg) | |
16 | g.28835718A>T | CA395408522 | ATXN2L | c.2855A>T (p.Gln952Leu) c.830A>T (p.Gln277Leu) n.3229A>T c.50A>T (p.Gln17Leu) c.2873A>T (p.Gln958Leu) c.1919A>T (n.1919A>T) c.124A>T c.833A>T (p.Gln278Leu) c.375A>T c.2876A>T (p.Gln959Leu) c.2858A>T (p.Gln953Leu) c.2696A>T (p.Gln899Leu) c.2804A>T (p.Gln935Leu) c.2786A>T (p.Gln929Leu) c.2510A>T (p.Gln837Leu) n.3085A>T c.2678A>T (p.Gln893Leu) c.2492A>T (p.Gln831Leu) n.3088A>T c.2783A>T (p.Gln928Leu) c.2849A>T (p.Gln950Leu) c.2801A>T (p.Gln934Leu) c.2666A>T (p.Gln889Leu) | |
16 | g.28835719G>A | CA494869373 | ATXN2L | c.2856G>A (p.Gln952=) c.831G>A (p.Gln277=) n.3230G>A c.51G>A (p.Gln17=) c.2874G>A (p.Gln958=) c.1920G>A (n.1920G>A) c.125G>A c.834G>A (p.Gln278=) c.376G>A c.2877G>A (p.Gln959=) c.2859G>A (p.Gln953=) c.2697G>A (p.Gln899=) c.2805G>A (p.Gln935=) c.2787G>A (p.Gln929=) c.2511G>A (p.Gln837=) n.3086G>A c.2679G>A (p.Gln893=) c.2493G>A (p.Gln831=) n.3089G>A c.2784G>A (p.Gln928=) c.2850G>A (p.Gln950=) c.2802G>A (p.Gln934=) c.2667G>A (p.Gln889=) | dbSNP gnomAD v2 |
16 | g.28835719G>C | CA395408524 | ATXN2L | c.2856G>C (p.Gln952His) c.831G>C (p.Gln277His) n.3230G>C c.51G>C (p.Gln17His) c.2874G>C (p.Gln958His) c.1920G>C (n.1920G>C) c.125G>C c.834G>C (p.Gln278His) c.376G>C c.2877G>C (p.Gln959His) c.2859G>C (p.Gln953His) c.2697G>C (p.Gln899His) c.2805G>C (p.Gln935His) c.2787G>C (p.Gln929His) c.2511G>C (p.Gln837His) n.3086G>C c.2679G>C (p.Gln893His) c.2493G>C (p.Gln831His) n.3089G>C c.2784G>C (p.Gln928His) c.2850G>C (p.Gln950His) c.2802G>C (p.Gln934His) c.2667G>C (p.Gln889His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835719G= | CA2215806460 | ATXN2L | c.2856G= (p.Gln952=) c.831G= (p.Gln277=) n.3230G= c.51G= (p.Gln17=) c.2874G= (p.Gln958=) c.1920G= (n.1920G=) c.125G= c.834G= (p.Gln278=) c.376G= c.2877G= (p.Gln959=) c.2859G= (p.Gln953=) c.2697G= (p.Gln899=) c.2805G= (p.Gln935=) c.2787G= (p.Gln929=) c.2511G= (p.Gln837=) n.3086G= c.2679G= (p.Gln893=) c.2493G= (p.Gln831=) n.3089G= c.2784G= (p.Gln928=) c.2850G= (p.Gln950=) c.2802G= (p.Gln934=) c.2667G= (p.Gln889=) | |
16 | g.28835719G>T | CA395408526 | ATXN2L | c.2856G>T (p.Gln952His) c.831G>T (p.Gln277His) n.3230G>T c.51G>T (p.Gln17His) c.2874G>T (p.Gln958His) c.1920G>T (n.1920G>T) c.125G>T c.834G>T (p.Gln278His) c.376G>T c.2877G>T (p.Gln959His) c.2859G>T (p.Gln953His) c.2697G>T (p.Gln899His) c.2805G>T (p.Gln935His) c.2787G>T (p.Gln929His) c.2511G>T (p.Gln837His) n.3086G>T c.2679G>T (p.Gln893His) c.2493G>T (p.Gln831His) n.3089G>T c.2784G>T (p.Gln928His) c.2850G>T (p.Gln950His) c.2802G>T (p.Gln934His) c.2667G>T (p.Gln889His) | gnomAD v4 |
16 | g.28835720C>A | CA395408527 | ATXN2L | c.2857C>A (p.Leu953Met) c.832C>A (p.Leu278Met) n.3231C>A c.52C>A (p.Leu18Met) c.2875C>A (p.Leu959Met) c.1921C>A (n.1921C>A) c.126C>A c.835C>A (p.Leu279Met) c.377C>A c.2878C>A (p.Leu960Met) c.2860C>A (p.Leu954Met) c.2698C>A (p.Leu900Met) c.2806C>A (p.Leu936Met) c.2788C>A (p.Leu930Met) c.2512C>A (p.Leu838Met) n.3087C>A c.2680C>A (p.Leu894Met) c.2494C>A (p.Leu832Met) n.3090C>A c.2785C>A (p.Leu929Met) c.2851C>A (p.Leu951Met) c.2803C>A (p.Leu935Met) c.2668C>A (p.Leu890Met) | |
16 | g.28835720C>G | CA395408529 | ATXN2L | c.2857C>G (p.Leu953Val) c.832C>G (p.Leu278Val) n.3231C>G c.52C>G (p.Leu18Val) c.2875C>G (p.Leu959Val) c.1921C>G (n.1921C>G) c.126C>G c.835C>G (p.Leu279Val) c.377C>G c.2878C>G (p.Leu960Val) c.2860C>G (p.Leu954Val) c.2698C>G (p.Leu900Val) c.2806C>G (p.Leu936Val) c.2788C>G (p.Leu930Val) c.2512C>G (p.Leu838Val) n.3087C>G c.2680C>G (p.Leu894Val) c.2494C>G (p.Leu832Val) n.3090C>G c.2785C>G (p.Leu929Val) c.2851C>G (p.Leu951Val) c.2803C>G (p.Leu935Val) c.2668C>G (p.Leu890Val) | |
16 | g.28835720C>T | CA494869378 | ATXN2L | c.2857C>T (p.Leu953=) c.832C>T (p.Leu278=) n.3231C>T c.52C>T (p.Leu18=) c.2875C>T (p.Leu959=) c.1921C>T (n.1921C>T) c.126C>T c.835C>T (p.Leu279=) c.377C>T c.2878C>T (p.Leu960=) c.2860C>T (p.Leu954=) c.2698C>T (p.Leu900=) c.2806C>T (p.Leu936=) c.2788C>T (p.Leu930=) c.2512C>T (p.Leu838=) n.3087C>T c.2680C>T (p.Leu894=) c.2494C>T (p.Leu832=) n.3090C>T c.2785C>T (p.Leu929=) c.2851C>T (p.Leu951=) c.2803C>T (p.Leu935=) c.2668C>T (p.Leu890=) | |
16 | g.28835721T>A | CA395408531 | ATXN2L | c.2858T>A (p.Leu953Gln) c.833T>A (p.Leu278Gln) n.3232T>A c.53T>A (p.Leu18Gln) c.2876T>A (p.Leu959Gln) c.1922T>A (n.1922T>A) c.127T>A c.836T>A (p.Leu279Gln) c.378T>A c.2879T>A (p.Leu960Gln) c.2861T>A (p.Leu954Gln) c.2699T>A (p.Leu900Gln) c.2807T>A (p.Leu936Gln) c.2789T>A (p.Leu930Gln) c.2513T>A (p.Leu838Gln) n.3088T>A c.2681T>A (p.Leu894Gln) c.2495T>A (p.Leu832Gln) n.3091T>A c.2786T>A (p.Leu929Gln) c.2852T>A (p.Leu951Gln) c.2804T>A (p.Leu935Gln) c.2669T>A (p.Leu890Gln) | |
16 | g.28835721T>C | CA395408533 | ATXN2L | c.2858T>C (p.Leu953Pro) c.833T>C (p.Leu278Pro) n.3232T>C c.53T>C (p.Leu18Pro) c.2876T>C (p.Leu959Pro) c.1922T>C (n.1922T>C) c.127T>C c.836T>C (p.Leu279Pro) c.378T>C c.2879T>C (p.Leu960Pro) c.2861T>C (p.Leu954Pro) c.2699T>C (p.Leu900Pro) c.2807T>C (p.Leu936Pro) c.2789T>C (p.Leu930Pro) c.2513T>C (p.Leu838Pro) n.3088T>C c.2681T>C (p.Leu894Pro) c.2495T>C (p.Leu832Pro) n.3091T>C c.2786T>C (p.Leu929Pro) c.2852T>C (p.Leu951Pro) c.2804T>C (p.Leu935Pro) c.2669T>C (p.Leu890Pro) | |
16 | g.28835721T>G | CA395408535 | ATXN2L | c.2858T>G (p.Leu953Arg) c.833T>G (p.Leu278Arg) n.3232T>G c.53T>G (p.Leu18Arg) c.2876T>G (p.Leu959Arg) c.1922T>G (n.1922T>G) c.127T>G c.836T>G (p.Leu279Arg) c.378T>G c.2879T>G (p.Leu960Arg) c.2861T>G (p.Leu954Arg) c.2699T>G (p.Leu900Arg) c.2807T>G (p.Leu936Arg) c.2789T>G (p.Leu930Arg) c.2513T>G (p.Leu838Arg) n.3088T>G c.2681T>G (p.Leu894Arg) c.2495T>G (p.Leu832Arg) n.3091T>G c.2786T>G (p.Leu929Arg) c.2852T>G (p.Leu951Arg) c.2804T>G (p.Leu935Arg) c.2669T>G (p.Leu890Arg) | |
16 | g.28835722G>A | CA494869390 | ATXN2L | c.2859G>A (p.Leu953=) c.834G>A (p.Leu278=) n.3233G>A c.54G>A (p.Leu18=) c.2877G>A (p.Leu959=) c.1923G>A (n.1923G>A) c.128G>A c.837G>A (p.Leu279=) c.379G>A c.2880G>A (p.Leu960=) c.2862G>A (p.Leu954=) c.2700G>A (p.Leu900=) c.2808G>A (p.Leu936=) c.2790G>A (p.Leu930=) c.2514G>A (p.Leu838=) n.3089G>A c.2682G>A (p.Leu894=) c.2496G>A (p.Leu832=) n.3092G>A c.2787G>A (p.Leu929=) c.2853G>A (p.Leu951=) c.2805G>A (p.Leu935=) c.2670G>A (p.Leu890=) | |
16 | g.28835722G>C | CA494869392 | ATXN2L | c.2859G>C (p.Leu953=) c.834G>C (p.Leu278=) n.3233G>C c.54G>C (p.Leu18=) c.2877G>C (p.Leu959=) c.1923G>C (n.1923G>C) c.128G>C c.837G>C (p.Leu279=) c.379G>C c.2880G>C (p.Leu960=) c.2862G>C (p.Leu954=) c.2700G>C (p.Leu900=) c.2808G>C (p.Leu936=) c.2790G>C (p.Leu930=) c.2514G>C (p.Leu838=) n.3089G>C c.2682G>C (p.Leu894=) c.2496G>C (p.Leu832=) n.3092G>C c.2787G>C (p.Leu929=) c.2853G>C (p.Leu951=) c.2805G>C (p.Leu935=) c.2670G>C (p.Leu890=) | |
16 | g.28835722G>T | CA494869396 | ATXN2L | c.2859G>T (p.Leu953=) c.834G>T (p.Leu278=) n.3233G>T c.54G>T (p.Leu18=) c.2877G>T (p.Leu959=) c.1923G>T (n.1923G>T) c.128G>T c.837G>T (p.Leu279=) c.379G>T c.2880G>T (p.Leu960=) c.2862G>T (p.Leu954=) c.2700G>T (p.Leu900=) c.2808G>T (p.Leu936=) c.2790G>T (p.Leu930=) c.2514G>T (p.Leu838=) n.3089G>T c.2682G>T (p.Leu894=) c.2496G>T (p.Leu832=) n.3092G>T c.2787G>T (p.Leu929=) c.2853G>T (p.Leu951=) c.2805G>T (p.Leu935=) c.2670G>T (p.Leu890=) | |
16 | g.28835723C>A | CA395408540 | ATXN2L | c.2860C>A (p.Pro954Thr) c.835C>A (p.Pro279Thr) n.3234C>A c.55C>A (p.Pro19Thr) c.2878C>A (p.Pro960Thr) c.1924C>A (n.1924C>A) c.129C>A c.838C>A (p.Pro280Thr) c.380C>A c.2881C>A (p.Pro961Thr) c.2863C>A (p.Pro955Thr) c.2701C>A (p.Pro901Thr) c.2809C>A (p.Pro937Thr) c.2791C>A (p.Pro931Thr) c.2515C>A (p.Pro839Thr) n.3090C>A c.2683C>A (p.Pro895Thr) c.2497C>A (p.Pro833Thr) n.3093C>A c.2788C>A (p.Pro930Thr) c.2854C>A (p.Pro952Thr) c.2806C>A (p.Pro936Thr) c.2671C>A (p.Pro891Thr) | |
16 | g.28835723C= | CA2215806463 | ATXN2L | c.2860C= (p.Pro954=) c.835C= (p.Pro279=) n.3234C= c.55C= (p.Pro19=) c.2878C= (p.Pro960=) c.1924C= (n.1924C=) c.129C= c.838C= (p.Pro280=) c.380C= c.2881C= (p.Pro961=) c.2863C= (p.Pro955=) c.2701C= (p.Pro901=) c.2809C= (p.Pro937=) c.2791C= (p.Pro931=) c.2515C= (p.Pro839=) n.3090C= c.2683C= (p.Pro895=) c.2497C= (p.Pro833=) n.3093C= c.2788C= (p.Pro930=) c.2854C= (p.Pro952=) c.2806C= (p.Pro936=) c.2671C= (p.Pro891=) | |
16 | g.28835723C>G | CA395408537 | ATXN2L | c.2860C>G (p.Pro954Ala) c.835C>G (p.Pro279Ala) n.3234C>G c.55C>G (p.Pro19Ala) c.2878C>G (p.Pro960Ala) c.1924C>G (n.1924C>G) c.129C>G c.838C>G (p.Pro280Ala) c.380C>G c.2881C>G (p.Pro961Ala) c.2863C>G (p.Pro955Ala) c.2701C>G (p.Pro901Ala) c.2809C>G (p.Pro937Ala) c.2791C>G (p.Pro931Ala) c.2515C>G (p.Pro839Ala) n.3090C>G c.2683C>G (p.Pro895Ala) c.2497C>G (p.Pro833Ala) n.3093C>G c.2788C>G (p.Pro930Ala) c.2854C>G (p.Pro952Ala) c.2806C>G (p.Pro936Ala) c.2671C>G (p.Pro891Ala) | |
16 | g.28835723C>T | CA7985104 | ATXN2L | c.2860C>T (p.Pro954Ser) c.835C>T (p.Pro279Ser) n.3234C>T c.55C>T (p.Pro19Ser) c.2878C>T (p.Pro960Ser) c.1924C>T (n.1924C>T) c.129C>T c.838C>T (p.Pro280Ser) c.380C>T c.2881C>T (p.Pro961Ser) c.2863C>T (p.Pro955Ser) c.2701C>T (p.Pro901Ser) c.2809C>T (p.Pro937Ser) c.2791C>T (p.Pro931Ser) c.2515C>T (p.Pro839Ser) n.3090C>T c.2683C>T (p.Pro895Ser) c.2497C>T (p.Pro833Ser) n.3093C>T c.2788C>T (p.Pro930Ser) c.2854C>T (p.Pro952Ser) c.2806C>T (p.Pro936Ser) c.2671C>T (p.Pro891Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835724C>A | CA395408542 | ATXN2L | c.2861C>A (p.Pro954His) c.836C>A (p.Pro279His) n.3235C>A c.56C>A (p.Pro19His) c.2879C>A (p.Pro960His) c.1925C>A (n.1925C>A) c.130C>A c.839C>A (p.Pro280His) c.381C>A c.2882C>A (p.Pro961His) c.2864C>A (p.Pro955His) c.2702C>A (p.Pro901His) c.2810C>A (p.Pro937His) c.2792C>A (p.Pro931His) c.2516C>A (p.Pro839His) n.3091C>A c.2684C>A (p.Pro895His) c.2498C>A (p.Pro833His) n.3094C>A c.2789C>A (p.Pro930His) c.2855C>A (p.Pro952His) c.2807C>A (p.Pro936His) c.2672C>A (p.Pro891His) | |
16 | g.28835724C>G | CA395408544 | ATXN2L | c.2861C>G (p.Pro954Arg) c.836C>G (p.Pro279Arg) n.3235C>G c.56C>G (p.Pro19Arg) c.2879C>G (p.Pro960Arg) c.1925C>G (n.1925C>G) c.130C>G c.839C>G (p.Pro280Arg) c.381C>G c.2882C>G (p.Pro961Arg) c.2864C>G (p.Pro955Arg) c.2702C>G (p.Pro901Arg) c.2810C>G (p.Pro937Arg) c.2792C>G (p.Pro931Arg) c.2516C>G (p.Pro839Arg) n.3091C>G c.2684C>G (p.Pro895Arg) c.2498C>G (p.Pro833Arg) n.3094C>G c.2789C>G (p.Pro930Arg) c.2855C>G (p.Pro952Arg) c.2807C>G (p.Pro936Arg) c.2672C>G (p.Pro891Arg) | |
16 | g.28835724C>T | CA395408545 | ATXN2L | c.2861C>T (p.Pro954Leu) c.836C>T (p.Pro279Leu) n.3235C>T c.56C>T (p.Pro19Leu) c.2879C>T (p.Pro960Leu) c.1925C>T (n.1925C>T) c.130C>T c.839C>T (p.Pro280Leu) c.381C>T c.2882C>T (p.Pro961Leu) c.2864C>T (p.Pro955Leu) c.2702C>T (p.Pro901Leu) c.2810C>T (p.Pro937Leu) c.2792C>T (p.Pro931Leu) c.2516C>T (p.Pro839Leu) n.3091C>T c.2684C>T (p.Pro895Leu) c.2498C>T (p.Pro833Leu) n.3094C>T c.2789C>T (p.Pro930Leu) c.2855C>T (p.Pro952Leu) c.2807C>T (p.Pro936Leu) c.2672C>T (p.Pro891Leu) | |
16 | g.28835725C>A | CA494869420 | ATXN2L | c.2862C>A (p.Pro954=) c.837C>A (p.Pro279=) n.3236C>A c.57C>A (p.Pro19=) c.2880C>A (p.Pro960=) c.1926C>A (n.1926C>A) c.131C>A c.840C>A (p.Pro280=) c.382C>A c.2883C>A (p.Pro961=) c.2865C>A (p.Pro955=) c.2703C>A (p.Pro901=) c.2811C>A (p.Pro937=) c.2793C>A (p.Pro931=) c.2517C>A (p.Pro839=) n.3092C>A c.2685C>A (p.Pro895=) c.2499C>A (p.Pro833=) n.3095C>A c.2790C>A (p.Pro930=) c.2856C>A (p.Pro952=) c.2808C>A (p.Pro936=) c.2673C>A (p.Pro891=) | |
16 | g.28835725C>G | CA494869422 | ATXN2L | c.2862C>G (p.Pro954=) c.837C>G (p.Pro279=) n.3236C>G c.57C>G (p.Pro19=) c.2880C>G (p.Pro960=) c.1926C>G (n.1926C>G) c.131C>G c.840C>G (p.Pro280=) c.382C>G c.2883C>G (p.Pro961=) c.2865C>G (p.Pro955=) c.2703C>G (p.Pro901=) c.2811C>G (p.Pro937=) c.2793C>G (p.Pro931=) c.2517C>G (p.Pro839=) n.3092C>G c.2685C>G (p.Pro895=) c.2499C>G (p.Pro833=) n.3095C>G c.2790C>G (p.Pro930=) c.2856C>G (p.Pro952=) c.2808C>G (p.Pro936=) c.2673C>G (p.Pro891=) | |
16 | g.28835725C>T | CA494869412 | ATXN2L | c.2862C>T (p.Pro954=) c.837C>T (p.Pro279=) n.3236C>T c.57C>T (p.Pro19=) c.2880C>T (p.Pro960=) c.1926C>T (n.1926C>T) c.131C>T c.840C>T (p.Pro280=) c.382C>T c.2883C>T (p.Pro961=) c.2865C>T (p.Pro955=) c.2703C>T (p.Pro901=) c.2811C>T (p.Pro937=) c.2793C>T (p.Pro931=) c.2517C>T (p.Pro839=) n.3092C>T c.2685C>T (p.Pro895=) c.2499C>T (p.Pro833=) n.3095C>T c.2790C>T (p.Pro930=) c.2856C>T (p.Pro952=) c.2808C>T (p.Pro936=) c.2673C>T (p.Pro891=) | |
16 | g.28835726C>A | CA395408547 | ATXN2L | c.2863C>A (p.His955Asn) c.838C>A (p.His280Asn) n.3237C>A c.58C>A (p.His20Asn) c.2881C>A (p.His961Asn) c.1927C>A (n.1927C>A) c.132C>A c.841C>A (p.His281Asn) c.383C>A c.2884C>A (p.His962Asn) c.2866C>A (p.His956Asn) c.2704C>A (p.His902Asn) c.2812C>A (p.His938Asn) c.2794C>A (p.His932Asn) c.2518C>A (p.His840Asn) n.3093C>A c.2686C>A (p.His896Asn) c.2500C>A (p.His834Asn) n.3096C>A c.2791C>A (p.His931Asn) c.2857C>A (p.His953Asn) c.2809C>A (p.His937Asn) c.2674C>A (p.His892Asn) | |
16 | g.28835726C>G | CA395408549 | ATXN2L | c.2863C>G (p.His955Asp) c.838C>G (p.His280Asp) n.3237C>G c.58C>G (p.His20Asp) c.2881C>G (p.His961Asp) c.1927C>G (n.1927C>G) c.132C>G c.841C>G (p.His281Asp) c.383C>G c.2884C>G (p.His962Asp) c.2866C>G (p.His956Asp) c.2704C>G (p.His902Asp) c.2812C>G (p.His938Asp) c.2794C>G (p.His932Asp) c.2518C>G (p.His840Asp) n.3093C>G c.2686C>G (p.His896Asp) c.2500C>G (p.His834Asp) n.3096C>G c.2791C>G (p.His931Asp) c.2857C>G (p.His953Asp) c.2809C>G (p.His937Asp) c.2674C>G (p.His892Asp) | |
16 | g.28835726C>T | CA395408551 | ATXN2L | c.2863C>T (p.His955Tyr) c.838C>T (p.His280Tyr) n.3237C>T c.58C>T (p.His20Tyr) c.2881C>T (p.His961Tyr) c.1927C>T (n.1927C>T) c.132C>T c.841C>T (p.His281Tyr) c.383C>T c.2884C>T (p.His962Tyr) c.2866C>T (p.His956Tyr) c.2704C>T (p.His902Tyr) c.2812C>T (p.His938Tyr) c.2794C>T (p.His932Tyr) c.2518C>T (p.His840Tyr) n.3093C>T c.2686C>T (p.His896Tyr) c.2500C>T (p.His834Tyr) n.3096C>T c.2791C>T (p.His931Tyr) c.2857C>T (p.His953Tyr) c.2809C>T (p.His937Tyr) c.2674C>T (p.His892Tyr) | |
16 | g.28835727A>C | CA395408553 | ATXN2L | c.2864A>C (p.His955Pro) c.839A>C (p.His280Pro) n.3238A>C c.59A>C (p.His20Pro) c.2882A>C (p.His961Pro) c.1928A>C (n.1928A>C) c.133A>C c.842A>C (p.His281Pro) c.384A>C c.2885A>C (p.His962Pro) c.2867A>C (p.His956Pro) c.2705A>C (p.His902Pro) c.2813A>C (p.His938Pro) c.2795A>C (p.His932Pro) c.2519A>C (p.His840Pro) n.3094A>C c.2687A>C (p.His896Pro) c.2501A>C (p.His834Pro) n.3097A>C c.2792A>C (p.His931Pro) c.2858A>C (p.His953Pro) c.2810A>C (p.His937Pro) c.2675A>C (p.His892Pro) | |
16 | g.28835727A>G | CA395408555 | ATXN2L | c.2864A>G (p.His955Arg) c.839A>G (p.His280Arg) n.3238A>G c.59A>G (p.His20Arg) c.2882A>G (p.His961Arg) c.1928A>G (n.1928A>G) c.133A>G c.842A>G (p.His281Arg) c.384A>G c.2885A>G (p.His962Arg) c.2867A>G (p.His956Arg) c.2705A>G (p.His902Arg) c.2813A>G (p.His938Arg) c.2795A>G (p.His932Arg) c.2519A>G (p.His840Arg) n.3094A>G c.2687A>G (p.His896Arg) c.2501A>G (p.His834Arg) n.3097A>G c.2792A>G (p.His931Arg) c.2858A>G (p.His953Arg) c.2810A>G (p.His937Arg) c.2675A>G (p.His892Arg) | |
16 | g.28835727A>T | CA395408556 | ATXN2L | c.2864A>T (p.His955Leu) c.839A>T (p.His280Leu) n.3238A>T c.59A>T (p.His20Leu) c.2882A>T (p.His961Leu) c.1928A>T (n.1928A>T) c.133A>T c.842A>T (p.His281Leu) c.384A>T c.2885A>T (p.His962Leu) c.2867A>T (p.His956Leu) c.2705A>T (p.His902Leu) c.2813A>T (p.His938Leu) c.2795A>T (p.His932Leu) c.2519A>T (p.His840Leu) n.3094A>T c.2687A>T (p.His896Leu) c.2501A>T (p.His834Leu) n.3097A>T c.2792A>T (p.His931Leu) c.2858A>T (p.His953Leu) c.2810A>T (p.His937Leu) c.2675A>T (p.His892Leu) | |
16 | g.28835728C>A | CA395408559 | ATXN2L | c.2865C>A (p.His955Gln) c.840C>A (p.His280Gln) n.3239C>A c.60C>A (p.His20Gln) c.2883C>A (p.His961Gln) c.1929C>A (n.1929C>A) c.134C>A c.843C>A (p.His281Gln) c.385C>A c.2886C>A (p.His962Gln) c.2868C>A (p.His956Gln) c.2706C>A (p.His902Gln) c.2814C>A (p.His938Gln) c.2796C>A (p.His932Gln) c.2520C>A (p.His840Gln) n.3095C>A c.2688C>A (p.His896Gln) c.2502C>A (p.His834Gln) n.3098C>A c.2793C>A (p.His931Gln) c.2859C>A (p.His953Gln) c.2811C>A (p.His937Gln) c.2676C>A (p.His892Gln) | |
16 | g.28835728C= | CA2215806467 | ATXN2L | c.2865C= (p.His955=) c.840C= (p.His280=) n.3239C= c.60C= (p.His20=) c.2883C= (p.His961=) c.1929C= (n.1929C=) c.134C= c.843C= (p.His281=) c.385C= c.2886C= (p.His962=) c.2868C= (p.His956=) c.2706C= (p.His902=) c.2814C= (p.His938=) c.2796C= (p.His932=) c.2520C= (p.His840=) n.3095C= c.2688C= (p.His896=) c.2502C= (p.His834=) n.3098C= c.2793C= (p.His931=) c.2859C= (p.His953=) c.2811C= (p.His937=) c.2676C= (p.His892=) | |
16 | g.28835728C>G | CA395408561 | ATXN2L | c.2865C>G (p.His955Gln) c.840C>G (p.His280Gln) n.3239C>G c.60C>G (p.His20Gln) c.2883C>G (p.His961Gln) c.1929C>G (n.1929C>G) c.134C>G c.843C>G (p.His281Gln) c.385C>G c.2886C>G (p.His962Gln) c.2868C>G (p.His956Gln) c.2706C>G (p.His902Gln) c.2814C>G (p.His938Gln) c.2796C>G (p.His932Gln) c.2520C>G (p.His840Gln) n.3095C>G c.2688C>G (p.His896Gln) c.2502C>G (p.His834Gln) n.3098C>G c.2793C>G (p.His931Gln) c.2859C>G (p.His953Gln) c.2811C>G (p.His937Gln) c.2676C>G (p.His892Gln) | |
16 | g.28835728C>T | CA7985105 | ATXN2L | c.2865C>T (p.His955=) c.840C>T (p.His280=) n.3239C>T c.60C>T (p.His20=) c.2883C>T (p.His961=) c.1929C>T (n.1929C>T) c.134C>T c.843C>T (p.His281=) c.385C>T c.2886C>T (p.His962=) c.2868C>T (p.His956=) c.2706C>T (p.His902=) c.2814C>T (p.His938=) c.2796C>T (p.His932=) c.2520C>T (p.His840=) n.3095C>T c.2688C>T (p.His896=) c.2502C>T (p.His834=) n.3098C>T c.2793C>T (p.His931=) c.2859C>T (p.His953=) c.2811C>T (p.His937=) c.2676C>T (p.His892=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835729G>A | CA7985106 | ATXN2L | c.2866G>A (p.Gly956Ser) c.841G>A (p.Gly281Ser) n.3240G>A c.61G>A (p.Gly21Ser) c.2884G>A (p.Gly962Ser) c.1930G>A (n.1930G>A) c.135G>A c.844G>A (p.Gly282Ser) c.386G>A c.2887G>A (p.Gly963Ser) c.2869G>A (p.Gly957Ser) c.2707G>A (p.Gly903Ser) c.2815G>A (p.Gly939Ser) c.2797G>A (p.Gly933Ser) c.2521G>A (p.Gly841Ser) n.3096G>A c.2689G>A (p.Gly897Ser) c.2503G>A (p.Gly835Ser) n.3099G>A c.2794G>A (p.Gly932Ser) c.2860G>A (p.Gly954Ser) c.2812G>A (p.Gly938Ser) c.2677G>A (p.Gly893Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835729G>C | CA395408565 | ATXN2L | c.2866G>C (p.Gly956Arg) c.841G>C (p.Gly281Arg) n.3240G>C c.61G>C (p.Gly21Arg) c.2884G>C (p.Gly962Arg) c.1930G>C (n.1930G>C) c.135G>C c.844G>C (p.Gly282Arg) c.386G>C c.2887G>C (p.Gly963Arg) c.2869G>C (p.Gly957Arg) c.2707G>C (p.Gly903Arg) c.2815G>C (p.Gly939Arg) c.2797G>C (p.Gly933Arg) c.2521G>C (p.Gly841Arg) n.3096G>C c.2689G>C (p.Gly897Arg) c.2503G>C (p.Gly835Arg) n.3099G>C c.2794G>C (p.Gly932Arg) c.2860G>C (p.Gly954Arg) c.2812G>C (p.Gly938Arg) c.2677G>C (p.Gly893Arg) | gnomAD v4 |
16 | g.28835729G= | CA2215806471 | ATXN2L | c.2866G= (p.Gly956=) c.841G= (p.Gly281=) n.3240G= c.61G= (p.Gly21=) c.2884G= (p.Gly962=) c.1930G= (n.1930G=) c.135G= c.844G= (p.Gly282=) c.386G= c.2887G= (p.Gly963=) c.2869G= (p.Gly957=) c.2707G= (p.Gly903=) c.2815G= (p.Gly939=) c.2797G= (p.Gly933=) c.2521G= (p.Gly841=) n.3096G= c.2689G= (p.Gly897=) c.2503G= (p.Gly835=) n.3099G= c.2794G= (p.Gly932=) c.2860G= (p.Gly954=) c.2812G= (p.Gly938=) c.2677G= (p.Gly893=) | |
16 | g.28835729G>T | CA7985107 | ATXN2L | c.2866G>T (p.Gly956Cys) c.841G>T (p.Gly281Cys) n.3240G>T c.61G>T (p.Gly21Cys) c.2884G>T (p.Gly962Cys) c.1930G>T (n.1930G>T) c.135G>T c.844G>T (p.Gly282Cys) c.386G>T c.2887G>T (p.Gly963Cys) c.2869G>T (p.Gly957Cys) c.2707G>T (p.Gly903Cys) c.2815G>T (p.Gly939Cys) c.2797G>T (p.Gly933Cys) c.2521G>T (p.Gly841Cys) n.3096G>T c.2689G>T (p.Gly897Cys) c.2503G>T (p.Gly835Cys) n.3099G>T c.2794G>T (p.Gly932Cys) c.2860G>T (p.Gly954Cys) c.2812G>T (p.Gly938Cys) c.2677G>T (p.Gly893Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835730G>A | CA279230797 | ATXN2L | c.2867G>A (p.Gly956Asp) c.842G>A (p.Gly281Asp) n.3241G>A c.62G>A (p.Gly21Asp) c.2885G>A (p.Gly962Asp) c.1931G>A (n.1931G>A) c.136G>A c.845G>A (p.Gly282Asp) c.387G>A c.2888G>A (p.Gly963Asp) c.2870G>A (p.Gly957Asp) c.2708G>A (p.Gly903Asp) c.2816G>A (p.Gly939Asp) c.2798G>A (p.Gly933Asp) c.2522G>A (p.Gly841Asp) n.3097G>A c.2690G>A (p.Gly897Asp) c.2504G>A (p.Gly835Asp) n.3100G>A c.2795G>A (p.Gly932Asp) c.2861G>A (p.Gly954Asp) c.2813G>A (p.Gly938Asp) c.2678G>A (p.Gly893Asp) | dbSNP gnomAD v4 |
16 | g.28835730G>C | CA395408568 | ATXN2L | c.2867G>C (p.Gly956Ala) c.842G>C (p.Gly281Ala) n.3241G>C c.62G>C (p.Gly21Ala) c.2885G>C (p.Gly962Ala) c.1931G>C (n.1931G>C) c.136G>C c.845G>C (p.Gly282Ala) c.387G>C c.2888G>C (p.Gly963Ala) c.2870G>C (p.Gly957Ala) c.2708G>C (p.Gly903Ala) c.2816G>C (p.Gly939Ala) c.2798G>C (p.Gly933Ala) c.2522G>C (p.Gly841Ala) n.3097G>C c.2690G>C (p.Gly897Ala) c.2504G>C (p.Gly835Ala) n.3100G>C c.2795G>C (p.Gly932Ala) c.2861G>C (p.Gly954Ala) c.2813G>C (p.Gly938Ala) c.2678G>C (p.Gly893Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835730G= | CA2215806476 | ATXN2L | c.2867G= (p.Gly956=) c.842G= (p.Gly281=) n.3241G= c.62G= (p.Gly21=) c.2885G= (p.Gly962=) c.1931G= (n.1931G=) c.136G= c.845G= (p.Gly282=) c.387G= c.2888G= (p.Gly963=) c.2870G= (p.Gly957=) c.2708G= (p.Gly903=) c.2816G= (p.Gly939=) c.2798G= (p.Gly933=) c.2522G= (p.Gly841=) n.3097G= c.2690G= (p.Gly897=) c.2504G= (p.Gly835=) n.3100G= c.2795G= (p.Gly932=) c.2861G= (p.Gly954=) c.2813G= (p.Gly938=) c.2678G= (p.Gly893=) | |
16 | g.28835730G>T | CA395408570 | ATXN2L | c.2867G>T (p.Gly956Val) c.842G>T (p.Gly281Val) n.3241G>T c.62G>T (p.Gly21Val) c.2885G>T (p.Gly962Val) c.1931G>T (n.1931G>T) c.136G>T c.845G>T (p.Gly282Val) c.387G>T c.2888G>T (p.Gly963Val) c.2870G>T (p.Gly957Val) c.2708G>T (p.Gly903Val) c.2816G>T (p.Gly939Val) c.2798G>T (p.Gly933Val) c.2522G>T (p.Gly841Val) n.3097G>T c.2690G>T (p.Gly897Val) c.2504G>T (p.Gly835Val) n.3100G>T c.2795G>T (p.Gly932Val) c.2861G>T (p.Gly954Val) c.2813G>T (p.Gly938Val) c.2678G>T (p.Gly893Val) | gnomAD v4 |
16 | g.28835731C>A | CA494869455 | ATXN2L | c.2868C>A (p.Gly956=) c.843C>A (p.Gly281=) n.3242C>A c.63C>A (p.Gly21=) c.2886C>A (p.Gly962=) c.1932C>A (n.1932C>A) c.137C>A c.846C>A (p.Gly282=) c.388C>A c.2889C>A (p.Gly963=) c.2871C>A (p.Gly957=) c.2709C>A (p.Gly903=) c.2817C>A (p.Gly939=) c.2799C>A (p.Gly933=) c.2523C>A (p.Gly841=) n.3098C>A c.2691C>A (p.Gly897=) c.2505C>A (p.Gly835=) n.3101C>A c.2796C>A (p.Gly932=) c.2862C>A (p.Gly954=) c.2814C>A (p.Gly938=) c.2679C>A (p.Gly893=) | |
16 | g.28835731C= | CA2215806485 | ATXN2L | c.2868C= (p.Gly956=) c.843C= (p.Gly281=) n.3242C= c.63C= (p.Gly21=) c.2886C= (p.Gly962=) c.1932C= (n.1932C=) c.137C= c.846C= (p.Gly282=) c.388C= c.2889C= (p.Gly963=) c.2871C= (p.Gly957=) c.2709C= (p.Gly903=) c.2817C= (p.Gly939=) c.2799C= (p.Gly933=) c.2523C= (p.Gly841=) n.3098C= c.2691C= (p.Gly897=) c.2505C= (p.Gly835=) n.3101C= c.2796C= (p.Gly932=) c.2862C= (p.Gly954=) c.2814C= (p.Gly938=) c.2679C= (p.Gly893=) | |
16 | g.28835731C>G | CA494869457 | ATXN2L | c.2868C>G (p.Gly956=) c.843C>G (p.Gly281=) n.3242C>G c.63C>G (p.Gly21=) c.2886C>G (p.Gly962=) c.1932C>G (n.1932C>G) c.137C>G c.846C>G (p.Gly282=) c.388C>G c.2889C>G (p.Gly963=) c.2871C>G (p.Gly957=) c.2709C>G (p.Gly903=) c.2817C>G (p.Gly939=) c.2799C>G (p.Gly933=) c.2523C>G (p.Gly841=) n.3098C>G c.2691C>G (p.Gly897=) c.2505C>G (p.Gly835=) n.3101C>G c.2796C>G (p.Gly932=) c.2862C>G (p.Gly954=) c.2814C>G (p.Gly938=) c.2679C>G (p.Gly893=) | |
16 | g.28835731C>T | CA7985108 | ATXN2L | c.2868C>T (p.Gly956=) c.843C>T (p.Gly281=) n.3242C>T c.63C>T (p.Gly21=) c.2886C>T (p.Gly962=) c.1932C>T (n.1932C>T) c.137C>T c.846C>T (p.Gly282=) c.388C>T c.2889C>T (p.Gly963=) c.2871C>T (p.Gly957=) c.2709C>T (p.Gly903=) c.2817C>T (p.Gly939=) c.2799C>T (p.Gly933=) c.2523C>T (p.Gly841=) n.3098C>T c.2691C>T (p.Gly897=) c.2505C>T (p.Gly835=) n.3101C>T c.2796C>T (p.Gly932=) c.2862C>T (p.Gly954=) c.2814C>T (p.Gly938=) c.2679C>T (p.Gly893=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835732T>A | CA395408574 | ATXN2L | c.2869T>A (p.Phe957Ile) c.844T>A (p.Phe282Ile) n.3243T>A c.64T>A (p.Phe22Ile) c.2887T>A (p.Phe963Ile) c.1933T>A (n.1933T>A) c.138T>A c.847T>A (p.Phe283Ile) c.389T>A c.2890T>A (p.Phe964Ile) c.2872T>A (p.Phe958Ile) c.2710T>A (p.Phe904Ile) c.2818T>A (p.Phe940Ile) c.2800T>A (p.Phe934Ile) c.2524T>A (p.Phe842Ile) n.3099T>A c.2692T>A (p.Phe898Ile) c.2506T>A (p.Phe836Ile) n.3102T>A c.2797T>A (p.Phe933Ile) c.2863T>A (p.Phe955Ile) c.2815T>A (p.Phe939Ile) c.2680T>A (p.Phe894Ile) | |
16 | g.28835732T>C | CA395408575 | ATXN2L | c.2869T>C (p.Phe957Leu) c.844T>C (p.Phe282Leu) n.3243T>C c.64T>C (p.Phe22Leu) c.2887T>C (p.Phe963Leu) c.1933T>C (n.1933T>C) c.138T>C c.847T>C (p.Phe283Leu) c.389T>C c.2890T>C (p.Phe964Leu) c.2872T>C (p.Phe958Leu) c.2710T>C (p.Phe904Leu) c.2818T>C (p.Phe940Leu) c.2800T>C (p.Phe934Leu) c.2524T>C (p.Phe842Leu) n.3099T>C c.2692T>C (p.Phe898Leu) c.2506T>C (p.Phe836Leu) n.3102T>C c.2797T>C (p.Phe933Leu) c.2863T>C (p.Phe955Leu) c.2815T>C (p.Phe939Leu) c.2680T>C (p.Phe894Leu) | |
16 | g.28835732T>G | CA395408576 | ATXN2L | c.2869T>G (p.Phe957Val) c.844T>G (p.Phe282Val) n.3243T>G c.64T>G (p.Phe22Val) c.2887T>G (p.Phe963Val) c.1933T>G (n.1933T>G) c.138T>G c.847T>G (p.Phe283Val) c.389T>G c.2890T>G (p.Phe964Val) c.2872T>G (p.Phe958Val) c.2710T>G (p.Phe904Val) c.2818T>G (p.Phe940Val) c.2800T>G (p.Phe934Val) c.2524T>G (p.Phe842Val) n.3099T>G c.2692T>G (p.Phe898Val) c.2506T>G (p.Phe836Val) n.3102T>G c.2797T>G (p.Phe933Val) c.2863T>G (p.Phe955Val) c.2815T>G (p.Phe939Val) c.2680T>G (p.Phe894Val) | |
16 | g.28835733T>A | CA395408579 | ATXN2L | c.2870T>A (p.Phe957Tyr) c.845T>A (p.Phe282Tyr) n.3244T>A c.65T>A (p.Phe22Tyr) c.2888T>A (p.Phe963Tyr) c.1934T>A (n.1934T>A) c.139T>A c.848T>A (p.Phe283Tyr) c.390T>A c.2891T>A (p.Phe964Tyr) c.2873T>A (p.Phe958Tyr) c.2711T>A (p.Phe904Tyr) c.2819T>A (p.Phe940Tyr) c.2801T>A (p.Phe934Tyr) c.2525T>A (p.Phe842Tyr) n.3100T>A c.2693T>A (p.Phe898Tyr) c.2507T>A (p.Phe836Tyr) n.3103T>A c.2798T>A (p.Phe933Tyr) c.2864T>A (p.Phe955Tyr) c.2816T>A (p.Phe939Tyr) c.2681T>A (p.Phe894Tyr) | |
16 | g.28835733T>C | CA395408580 | ATXN2L | c.2870T>C (p.Phe957Ser) c.845T>C (p.Phe282Ser) n.3244T>C c.65T>C (p.Phe22Ser) c.2888T>C (p.Phe963Ser) c.1934T>C (n.1934T>C) c.139T>C c.848T>C (p.Phe283Ser) c.390T>C c.2891T>C (p.Phe964Ser) c.2873T>C (p.Phe958Ser) c.2711T>C (p.Phe904Ser) c.2819T>C (p.Phe940Ser) c.2801T>C (p.Phe934Ser) c.2525T>C (p.Phe842Ser) n.3100T>C c.2693T>C (p.Phe898Ser) c.2507T>C (p.Phe836Ser) n.3103T>C c.2798T>C (p.Phe933Ser) c.2864T>C (p.Phe955Ser) c.2816T>C (p.Phe939Ser) c.2681T>C (p.Phe894Ser) | |
16 | g.28835733T>G | CA395408582 | ATXN2L | c.2870T>G (p.Phe957Cys) c.845T>G (p.Phe282Cys) n.3244T>G c.65T>G (p.Phe22Cys) c.2888T>G (p.Phe963Cys) c.1934T>G (n.1934T>G) c.139T>G c.848T>G (p.Phe283Cys) c.390T>G c.2891T>G (p.Phe964Cys) c.2873T>G (p.Phe958Cys) c.2711T>G (p.Phe904Cys) c.2819T>G (p.Phe940Cys) c.2801T>G (p.Phe934Cys) c.2525T>G (p.Phe842Cys) n.3100T>G c.2693T>G (p.Phe898Cys) c.2507T>G (p.Phe836Cys) n.3103T>G c.2798T>G (p.Phe933Cys) c.2864T>G (p.Phe955Cys) c.2816T>G (p.Phe939Cys) c.2681T>G (p.Phe894Cys) | |
16 | g.28835734C>A | CA395408584 | ATXN2L | c.2871C>A (p.Phe957Leu) c.846C>A (p.Phe282Leu) n.3245C>A c.66C>A (p.Phe22Leu) c.2889C>A (p.Phe963Leu) c.1935C>A (n.1935C>A) c.140C>A c.849C>A (p.Phe283Leu) c.391C>A c.2892C>A (p.Phe964Leu) c.2874C>A (p.Phe958Leu) c.2712C>A (p.Phe904Leu) c.2820C>A (p.Phe940Leu) c.2802C>A (p.Phe934Leu) c.2526C>A (p.Phe842Leu) n.3101C>A c.2694C>A (p.Phe898Leu) c.2508C>A (p.Phe836Leu) n.3104C>A c.2799C>A (p.Phe933Leu) c.2865C>A (p.Phe955Leu) c.2817C>A (p.Phe939Leu) c.2682C>A (p.Phe894Leu) | |
16 | g.28835734C= | CA2215806487 | ATXN2L | c.2871C= (p.Phe957=) c.846C= (p.Phe282=) n.3245C= c.66C= (p.Phe22=) c.2889C= (p.Phe963=) c.1935C= (n.1935C=) c.140C= c.849C= (p.Phe283=) c.391C= c.2892C= (p.Phe964=) c.2874C= (p.Phe958=) c.2712C= (p.Phe904=) c.2820C= (p.Phe940=) c.2802C= (p.Phe934=) c.2526C= (p.Phe842=) n.3101C= c.2694C= (p.Phe898=) c.2508C= (p.Phe836=) n.3104C= c.2799C= (p.Phe933=) c.2865C= (p.Phe955=) c.2817C= (p.Phe939=) c.2682C= (p.Phe894=) | |
16 | g.28835734C>G | CA395408586 | ATXN2L | c.2871C>G (p.Phe957Leu) c.846C>G (p.Phe282Leu) n.3245C>G c.66C>G (p.Phe22Leu) c.2889C>G (p.Phe963Leu) c.1935C>G (n.1935C>G) c.140C>G c.849C>G (p.Phe283Leu) c.391C>G c.2892C>G (p.Phe964Leu) c.2874C>G (p.Phe958Leu) c.2712C>G (p.Phe904Leu) c.2820C>G (p.Phe940Leu) c.2802C>G (p.Phe934Leu) c.2526C>G (p.Phe842Leu) n.3101C>G c.2694C>G (p.Phe898Leu) c.2508C>G (p.Phe836Leu) n.3104C>G c.2799C>G (p.Phe933Leu) c.2865C>G (p.Phe955Leu) c.2817C>G (p.Phe939Leu) c.2682C>G (p.Phe894Leu) | |
16 | g.28835734C>T | CA7985109 | ATXN2L | c.2871C>T (p.Phe957=) c.846C>T (p.Phe282=) n.3245C>T c.66C>T (p.Phe22=) c.2889C>T (p.Phe963=) c.1935C>T (n.1935C>T) c.140C>T c.849C>T (p.Phe283=) c.391C>T c.2892C>T (p.Phe964=) c.2874C>T (p.Phe958=) c.2712C>T (p.Phe904=) c.2820C>T (p.Phe940=) c.2802C>T (p.Phe934=) c.2526C>T (p.Phe842=) n.3101C>T c.2694C>T (p.Phe898=) c.2508C>T (p.Phe836=) n.3104C>T c.2799C>T (p.Phe933=) c.2865C>T (p.Phe955=) c.2817C>T (p.Phe939=) c.2682C>T (p.Phe894=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835735A= | CA2215806491 | ATXN2L | c.2872A= (p.Thr958=) c.847A= (p.Thr283=) n.3246A= c.67A= (p.Thr23=) c.2890A= (p.Thr964=) c.1936A= (n.1936A=) c.141A= c.850A= (p.Thr284=) c.392A= c.2893A= (p.Thr965=) c.2875A= (p.Thr959=) c.2713A= (p.Thr905=) c.2821A= (p.Thr941=) c.2803A= (p.Thr935=) c.2527A= (p.Thr843=) n.3102A= c.2695A= (p.Thr899=) c.2509A= (p.Thr837=) n.3105A= c.2800A= (p.Thr934=) c.2866A= (p.Thr956=) c.2818A= (p.Thr940=) c.2683A= (p.Thr895=) | |
16 | g.28835735A>C | CA395408592 | ATXN2L | c.2872A>C (p.Thr958Pro) c.847A>C (p.Thr283Pro) n.3246A>C c.67A>C (p.Thr23Pro) c.2890A>C (p.Thr964Pro) c.1936A>C (n.1936A>C) c.141A>C c.850A>C (p.Thr284Pro) c.392A>C c.2893A>C (p.Thr965Pro) c.2875A>C (p.Thr959Pro) c.2713A>C (p.Thr905Pro) c.2821A>C (p.Thr941Pro) c.2803A>C (p.Thr935Pro) c.2527A>C (p.Thr843Pro) n.3102A>C c.2695A>C (p.Thr899Pro) c.2509A>C (p.Thr837Pro) n.3105A>C c.2800A>C (p.Thr934Pro) c.2866A>C (p.Thr956Pro) c.2818A>C (p.Thr940Pro) c.2683A>C (p.Thr895Pro) | |
16 | g.28835735A>G | CA7985110 | ATXN2L | c.2872A>G (p.Thr958Ala) c.847A>G (p.Thr283Ala) n.3246A>G c.67A>G (p.Thr23Ala) c.2890A>G (p.Thr964Ala) c.1936A>G (n.1936A>G) c.141A>G c.850A>G (p.Thr284Ala) c.392A>G c.2893A>G (p.Thr965Ala) c.2875A>G (p.Thr959Ala) c.2713A>G (p.Thr905Ala) c.2821A>G (p.Thr941Ala) c.2803A>G (p.Thr935Ala) c.2527A>G (p.Thr843Ala) n.3102A>G c.2695A>G (p.Thr899Ala) c.2509A>G (p.Thr837Ala) n.3105A>G c.2800A>G (p.Thr934Ala) c.2866A>G (p.Thr956Ala) c.2818A>G (p.Thr940Ala) c.2683A>G (p.Thr895Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835735A>T | CA395408589 | ATXN2L | c.2872A>T (p.Thr958Ser) c.847A>T (p.Thr283Ser) n.3246A>T c.67A>T (p.Thr23Ser) c.2890A>T (p.Thr964Ser) c.1936A>T (n.1936A>T) c.141A>T c.850A>T (p.Thr284Ser) c.392A>T c.2893A>T (p.Thr965Ser) c.2875A>T (p.Thr959Ser) c.2713A>T (p.Thr905Ser) c.2821A>T (p.Thr941Ser) c.2803A>T (p.Thr935Ser) c.2527A>T (p.Thr843Ser) n.3102A>T c.2695A>T (p.Thr899Ser) c.2509A>T (p.Thr837Ser) n.3105A>T c.2800A>T (p.Thr934Ser) c.2866A>T (p.Thr956Ser) c.2818A>T (p.Thr940Ser) c.2683A>T (p.Thr895Ser) | |
16 | g.28835736C>A | CA395408594 | ATXN2L | c.2873C>A (p.Thr958Asn) c.848C>A (p.Thr283Asn) n.3247C>A c.68C>A (p.Thr23Asn) c.2891C>A (p.Thr964Asn) c.1937C>A (n.1937C>A) c.142C>A c.851C>A (p.Thr284Asn) c.393C>A c.2894C>A (p.Thr965Asn) c.2876C>A (p.Thr959Asn) c.2714C>A (p.Thr905Asn) c.2822C>A (p.Thr941Asn) c.2804C>A (p.Thr935Asn) c.2528C>A (p.Thr843Asn) n.3103C>A c.2696C>A (p.Thr899Asn) c.2510C>A (p.Thr837Asn) n.3106C>A c.2801C>A (p.Thr934Asn) c.2867C>A (p.Thr956Asn) c.2819C>A (p.Thr940Asn) c.2684C>A (p.Thr895Asn) | |
16 | g.28835736C>G | CA395408595 | ATXN2L | c.2873C>G (p.Thr958Ser) c.848C>G (p.Thr283Ser) n.3247C>G c.68C>G (p.Thr23Ser) c.2891C>G (p.Thr964Ser) c.1937C>G (n.1937C>G) c.142C>G c.851C>G (p.Thr284Ser) c.393C>G c.2894C>G (p.Thr965Ser) c.2876C>G (p.Thr959Ser) c.2714C>G (p.Thr905Ser) c.2822C>G (p.Thr941Ser) c.2804C>G (p.Thr935Ser) c.2528C>G (p.Thr843Ser) n.3103C>G c.2696C>G (p.Thr899Ser) c.2510C>G (p.Thr837Ser) n.3106C>G c.2801C>G (p.Thr934Ser) c.2867C>G (p.Thr956Ser) c.2819C>G (p.Thr940Ser) c.2684C>G (p.Thr895Ser) | |
16 | g.28835736C>T | CA395408596 | ATXN2L | c.2873C>T (p.Thr958Ile) c.848C>T (p.Thr283Ile) n.3247C>T c.68C>T (p.Thr23Ile) c.2891C>T (p.Thr964Ile) c.1937C>T (n.1937C>T) c.142C>T c.851C>T (p.Thr284Ile) c.393C>T c.2894C>T (p.Thr965Ile) c.2876C>T (p.Thr959Ile) c.2714C>T (p.Thr905Ile) c.2822C>T (p.Thr941Ile) c.2804C>T (p.Thr935Ile) c.2528C>T (p.Thr843Ile) n.3103C>T c.2696C>T (p.Thr899Ile) c.2510C>T (p.Thr837Ile) n.3106C>T c.2801C>T (p.Thr934Ile) c.2867C>T (p.Thr956Ile) c.2819C>T (p.Thr940Ile) c.2684C>T (p.Thr895Ile) | |
16 | g.28835737C>A | CA7985111 | ATXN2L | c.2874C>A (p.Thr958=) c.849C>A (p.Thr283=) n.3248C>A c.69C>A (p.Thr23=) c.2892C>A (p.Thr964=) c.1938C>A (n.1938C>A) c.143C>A c.852C>A (p.Thr284=) c.394C>A c.2895C>A (p.Thr965=) c.2877C>A (p.Thr959=) c.2715C>A (p.Thr905=) c.2823C>A (p.Thr941=) c.2805C>A (p.Thr935=) c.2529C>A (p.Thr843=) n.3104C>A c.2697C>A (p.Thr899=) c.2511C>A (p.Thr837=) n.3107C>A c.2802C>A (p.Thr934=) c.2868C>A (p.Thr956=) c.2820C>A (p.Thr940=) c.2685C>A (p.Thr895=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835737C= | CA2215806496 | ATXN2L | c.2874C= (p.Thr958=) c.849C= (p.Thr283=) n.3248C= c.69C= (p.Thr23=) c.2892C= (p.Thr964=) c.1938C= (n.1938C=) c.143C= c.852C= (p.Thr284=) c.394C= c.2895C= (p.Thr965=) c.2877C= (p.Thr959=) c.2715C= (p.Thr905=) c.2823C= (p.Thr941=) c.2805C= (p.Thr935=) c.2529C= (p.Thr843=) n.3104C= c.2697C= (p.Thr899=) c.2511C= (p.Thr837=) n.3107C= c.2802C= (p.Thr934=) c.2868C= (p.Thr956=) c.2820C= (p.Thr940=) c.2685C= (p.Thr895=) | |
16 | g.28835737C>G | CA494869480 | ATXN2L | c.2874C>G (p.Thr958=) c.849C>G (p.Thr283=) n.3248C>G c.69C>G (p.Thr23=) c.2892C>G (p.Thr964=) c.1938C>G (n.1938C>G) c.143C>G c.852C>G (p.Thr284=) c.394C>G c.2895C>G (p.Thr965=) c.2877C>G (p.Thr959=) c.2715C>G (p.Thr905=) c.2823C>G (p.Thr941=) c.2805C>G (p.Thr935=) c.2529C>G (p.Thr843=) n.3104C>G c.2697C>G (p.Thr899=) c.2511C>G (p.Thr837=) n.3107C>G c.2802C>G (p.Thr934=) c.2868C>G (p.Thr956=) c.2820C>G (p.Thr940=) c.2685C>G (p.Thr895=) | |
16 | g.28835737C>T | CA494869482 | ATXN2L | c.2874C>T (p.Thr958=) c.849C>T (p.Thr283=) n.3248C>T c.69C>T (p.Thr23=) c.2892C>T (p.Thr964=) c.1938C>T (n.1938C>T) c.143C>T c.852C>T (p.Thr284=) c.394C>T c.2895C>T (p.Thr965=) c.2877C>T (p.Thr959=) c.2715C>T (p.Thr905=) c.2823C>T (p.Thr941=) c.2805C>T (p.Thr935=) c.2529C>T (p.Thr843=) n.3104C>T c.2697C>T (p.Thr899=) c.2511C>T (p.Thr837=) n.3107C>T c.2802C>T (p.Thr934=) c.2868C>T (p.Thr956=) c.2820C>T (p.Thr940=) c.2685C>T (p.Thr895=) | gnomAD v4 |
16 | g.28835738A= | CA2215806499 | ATXN2L | c.2875A= (p.Asn959=) c.850A= (p.Asn284=) n.3249A= c.70A= (p.Asn24=) c.2893A= (p.Asn965=) c.1939A= (n.1939A=) c.144A= c.853A= (p.Asn285=) c.395A= c.2896A= (p.Asn966=) c.2878A= (p.Asn960=) c.2716A= (p.Asn906=) c.2824A= (p.Asn942=) c.2806A= (p.Asn936=) c.2530A= (p.Asn844=) n.3105A= c.2698A= (p.Asn900=) c.2512A= (p.Asn838=) n.3108A= c.2803A= (p.Asn935=) c.2869A= (p.Asn957=) c.2821A= (p.Asn941=) c.2686A= (p.Asn896=) | |
16 | g.28835738A>C | CA7985112 | ATXN2L | c.2875A>C (p.Asn959His) c.850A>C (p.Asn284His) n.3249A>C c.70A>C (p.Asn24His) c.2893A>C (p.Asn965His) c.1939A>C (n.1939A>C) c.144A>C c.853A>C (p.Asn285His) c.395A>C c.2896A>C (p.Asn966His) c.2878A>C (p.Asn960His) c.2716A>C (p.Asn906His) c.2824A>C (p.Asn942His) c.2806A>C (p.Asn936His) c.2530A>C (p.Asn844His) n.3105A>C c.2698A>C (p.Asn900His) c.2512A>C (p.Asn838His) n.3108A>C c.2803A>C (p.Asn935His) c.2869A>C (p.Asn957His) c.2821A>C (p.Asn941His) c.2686A>C (p.Asn896His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835738A>G | CA395408599 | ATXN2L | c.2875A>G (p.Asn959Asp) c.850A>G (p.Asn284Asp) n.3249A>G c.70A>G (p.Asn24Asp) c.2893A>G (p.Asn965Asp) c.1939A>G (n.1939A>G) c.144A>G c.853A>G (p.Asn285Asp) c.395A>G c.2896A>G (p.Asn966Asp) c.2878A>G (p.Asn960Asp) c.2716A>G (p.Asn906Asp) c.2824A>G (p.Asn942Asp) c.2806A>G (p.Asn936Asp) c.2530A>G (p.Asn844Asp) n.3105A>G c.2698A>G (p.Asn900Asp) c.2512A>G (p.Asn838Asp) n.3108A>G c.2803A>G (p.Asn935Asp) c.2869A>G (p.Asn957Asp) c.2821A>G (p.Asn941Asp) c.2686A>G (p.Asn896Asp) | |
16 | g.28835738A>T | CA395408601 | ATXN2L | c.2875A>T (p.Asn959Tyr) c.850A>T (p.Asn284Tyr) n.3249A>T c.70A>T (p.Asn24Tyr) c.2893A>T (p.Asn965Tyr) c.1939A>T (n.1939A>T) c.144A>T c.853A>T (p.Asn285Tyr) c.395A>T c.2896A>T (p.Asn966Tyr) c.2878A>T (p.Asn960Tyr) c.2716A>T (p.Asn906Tyr) c.2824A>T (p.Asn942Tyr) c.2806A>T (p.Asn936Tyr) c.2530A>T (p.Asn844Tyr) n.3105A>T c.2698A>T (p.Asn900Tyr) c.2512A>T (p.Asn838Tyr) n.3108A>T c.2803A>T (p.Asn935Tyr) c.2869A>T (p.Asn957Tyr) c.2821A>T (p.Asn941Tyr) c.2686A>T (p.Asn896Tyr) | |
16 | g.28835739A= | CA2215806505 | ATXN2L | c.2876A= (p.Asn959=) c.851A= (p.Asn284=) n.3250A= c.71A= (p.Asn24=) c.2894A= (p.Asn965=) c.1940A= (n.1940A=) c.145A= c.854A= (p.Asn285=) c.396A= c.2897A= (p.Asn966=) c.2879A= (p.Asn960=) c.2717A= (p.Asn906=) c.2825A= (p.Asn942=) c.2807A= (p.Asn936=) c.2531A= (p.Asn844=) n.3106A= c.2699A= (p.Asn900=) c.2513A= (p.Asn838=) n.3109A= c.2804A= (p.Asn935=) c.2870A= (p.Asn957=) c.2822A= (p.Asn941=) c.2687A= (p.Asn896=) | |
16 | g.28835739A>C | CA395408604 | ATXN2L | c.2876A>C (p.Asn959Thr) c.851A>C (p.Asn284Thr) n.3250A>C c.71A>C (p.Asn24Thr) c.2894A>C (p.Asn965Thr) c.1940A>C (n.1940A>C) c.145A>C c.854A>C (p.Asn285Thr) c.396A>C c.2897A>C (p.Asn966Thr) c.2879A>C (p.Asn960Thr) c.2717A>C (p.Asn906Thr) c.2825A>C (p.Asn942Thr) c.2807A>C (p.Asn936Thr) c.2531A>C (p.Asn844Thr) n.3106A>C c.2699A>C (p.Asn900Thr) c.2513A>C (p.Asn838Thr) n.3109A>C c.2804A>C (p.Asn935Thr) c.2870A>C (p.Asn957Thr) c.2822A>C (p.Asn941Thr) c.2687A>C (p.Asn896Thr) | gnomAD v4 |
16 | g.28835739A>G | CA7985113 | ATXN2L | c.2876A>G (p.Asn959Ser) c.851A>G (p.Asn284Ser) n.3250A>G c.71A>G (p.Asn24Ser) c.2894A>G (p.Asn965Ser) c.1940A>G (n.1940A>G) c.145A>G c.854A>G (p.Asn285Ser) c.396A>G c.2897A>G (p.Asn966Ser) c.2879A>G (p.Asn960Ser) c.2717A>G (p.Asn906Ser) c.2825A>G (p.Asn942Ser) c.2807A>G (p.Asn936Ser) c.2531A>G (p.Asn844Ser) n.3106A>G c.2699A>G (p.Asn900Ser) c.2513A>G (p.Asn838Ser) n.3109A>G c.2804A>G (p.Asn935Ser) c.2870A>G (p.Asn957Ser) c.2822A>G (p.Asn941Ser) c.2687A>G (p.Asn896Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835739A>T | CA395408606 | ATXN2L | c.2876A>T (p.Asn959Ile) c.851A>T (p.Asn284Ile) n.3250A>T c.71A>T (p.Asn24Ile) c.2894A>T (p.Asn965Ile) c.1940A>T (n.1940A>T) c.145A>T c.854A>T (p.Asn285Ile) c.396A>T c.2897A>T (p.Asn966Ile) c.2879A>T (p.Asn960Ile) c.2717A>T (p.Asn906Ile) c.2825A>T (p.Asn942Ile) c.2807A>T (p.Asn936Ile) c.2531A>T (p.Asn844Ile) n.3106A>T c.2699A>T (p.Asn900Ile) c.2513A>T (p.Asn838Ile) n.3109A>T c.2804A>T (p.Asn935Ile) c.2870A>T (p.Asn957Ile) c.2822A>T (p.Asn941Ile) c.2687A>T (p.Asn896Ile) | |
16 | g.28835740C>A | CA395408608 | ATXN2L | c.2877C>A (p.Asn959Lys) c.852C>A (p.Asn284Lys) n.3251C>A c.72C>A (p.Asn24Lys) c.2895C>A (p.Asn965Lys) c.1941C>A (n.1941C>A) c.146C>A c.855C>A (p.Asn285Lys) c.397C>A c.2898C>A (p.Asn966Lys) c.2880C>A (p.Asn960Lys) c.2718C>A (p.Asn906Lys) c.2826C>A (p.Asn942Lys) c.2808C>A (p.Asn936Lys) c.2532C>A (p.Asn844Lys) n.3107C>A c.2700C>A (p.Asn900Lys) c.2514C>A (p.Asn838Lys) n.3110C>A c.2805C>A (p.Asn935Lys) c.2871C>A (p.Asn957Lys) c.2823C>A (p.Asn941Lys) c.2688C>A (p.Asn896Lys) | |
16 | g.28835740C>G | CA395408609 | ATXN2L | c.2877C>G (p.Asn959Lys) c.852C>G (p.Asn284Lys) n.3251C>G c.72C>G (p.Asn24Lys) c.2895C>G (p.Asn965Lys) c.1941C>G (n.1941C>G) c.146C>G c.855C>G (p.Asn285Lys) c.397C>G c.2898C>G (p.Asn966Lys) c.2880C>G (p.Asn960Lys) c.2718C>G (p.Asn906Lys) c.2826C>G (p.Asn942Lys) c.2808C>G (p.Asn936Lys) c.2532C>G (p.Asn844Lys) n.3107C>G c.2700C>G (p.Asn900Lys) c.2514C>G (p.Asn838Lys) n.3110C>G c.2805C>G (p.Asn935Lys) c.2871C>G (p.Asn957Lys) c.2823C>G (p.Asn941Lys) c.2688C>G (p.Asn896Lys) | |
16 | g.28835740C>T | CA494869493 | ATXN2L | c.2877C>T (p.Asn959=) c.852C>T (p.Asn284=) n.3251C>T c.72C>T (p.Asn24=) c.2895C>T (p.Asn965=) c.1941C>T (n.1941C>T) c.146C>T c.855C>T (p.Asn285=) c.397C>T c.2898C>T (p.Asn966=) c.2880C>T (p.Asn960=) c.2718C>T (p.Asn906=) c.2826C>T (p.Asn942=) c.2808C>T (p.Asn936=) c.2532C>T (p.Asn844=) n.3107C>T c.2700C>T (p.Asn900=) c.2514C>T (p.Asn838=) n.3110C>T c.2805C>T (p.Asn935=) c.2871C>T (p.Asn957=) c.2823C>T (p.Asn941=) c.2688C>T (p.Asn896=) | gnomAD v4 |
16 | g.28835741A= | CA2215806512 | ATXN2L | c.2878A= (p.Met960=) c.853A= (p.Met285=) n.3252A= c.73A= (p.Met25=) c.2896A= (p.Met966=) c.1942A= (n.1942A=) c.147A= c.856A= (p.Met286=) c.398A= c.2899A= (p.Met967=) c.2881A= (p.Met961=) c.2719A= (p.Met907=) c.2827A= (p.Met943=) c.2809A= (p.Met937=) c.2533A= (p.Met845=) n.3108A= c.2701A= (p.Met901=) c.2515A= (p.Met839=) n.3111A= c.2806A= (p.Met936=) c.2872A= (p.Met958=) c.2824A= (p.Met942=) c.2689A= (p.Met897=) | |
16 | g.28835741A>C | CA395408614 | ATXN2L | c.2878A>C (p.Met960Leu) c.853A>C (p.Met285Leu) n.3252A>C c.73A>C (p.Met25Leu) c.2896A>C (p.Met966Leu) c.1942A>C (n.1942A>C) c.147A>C c.856A>C (p.Met286Leu) c.398A>C c.2899A>C (p.Met967Leu) c.2881A>C (p.Met961Leu) c.2719A>C (p.Met907Leu) c.2827A>C (p.Met943Leu) c.2809A>C (p.Met937Leu) c.2533A>C (p.Met845Leu) n.3108A>C c.2701A>C (p.Met901Leu) c.2515A>C (p.Met839Leu) n.3111A>C c.2806A>C (p.Met936Leu) c.2872A>C (p.Met958Leu) c.2824A>C (p.Met942Leu) c.2689A>C (p.Met897Leu) | |
16 | g.28835741A>G | CA7985114 | ATXN2L | c.2878A>G (p.Met960Val) c.853A>G (p.Met285Val) n.3252A>G c.73A>G (p.Met25Val) c.2896A>G (p.Met966Val) c.1942A>G (n.1942A>G) c.147A>G c.856A>G (p.Met286Val) c.398A>G c.2899A>G (p.Met967Val) c.2881A>G (p.Met961Val) c.2719A>G (p.Met907Val) c.2827A>G (p.Met943Val) c.2809A>G (p.Met937Val) c.2533A>G (p.Met845Val) n.3108A>G c.2701A>G (p.Met901Val) c.2515A>G (p.Met839Val) n.3111A>G c.2806A>G (p.Met936Val) c.2872A>G (p.Met958Val) c.2824A>G (p.Met942Val) c.2689A>G (p.Met897Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835741A>T | CA395408611 | ATXN2L | c.2878A>T (p.Met960Leu) c.853A>T (p.Met285Leu) n.3252A>T c.73A>T (p.Met25Leu) c.2896A>T (p.Met966Leu) c.1942A>T (n.1942A>T) c.147A>T c.856A>T (p.Met286Leu) c.398A>T c.2899A>T (p.Met967Leu) c.2881A>T (p.Met961Leu) c.2719A>T (p.Met907Leu) c.2827A>T (p.Met943Leu) c.2809A>T (p.Met937Leu) c.2533A>T (p.Met845Leu) n.3108A>T c.2701A>T (p.Met901Leu) c.2515A>T (p.Met839Leu) n.3111A>T c.2806A>T (p.Met936Leu) c.2872A>T (p.Met958Leu) c.2824A>T (p.Met942Leu) c.2689A>T (p.Met897Leu) | dbSNP gnomAD v2 |
16 | g.28835742T>A | CA395408616 | ATXN2L | c.2879T>A (p.Met960Lys) c.854T>A (p.Met285Lys) n.3253T>A c.74T>A (p.Met25Lys) c.2897T>A (p.Met966Lys) c.1943T>A (n.1943T>A) c.148T>A c.857T>A (p.Met286Lys) c.399T>A c.2900T>A (p.Met967Lys) c.2882T>A (p.Met961Lys) c.2720T>A (p.Met907Lys) c.2828T>A (p.Met943Lys) c.2810T>A (p.Met937Lys) c.2534T>A (p.Met845Lys) n.3109T>A c.2702T>A (p.Met901Lys) c.2516T>A (p.Met839Lys) n.3112T>A c.2807T>A (p.Met936Lys) c.2873T>A (p.Met958Lys) c.2825T>A (p.Met942Lys) c.2690T>A (p.Met897Lys) | |
16 | g.28835742T>C | CA395408618 | ATXN2L | c.2879T>C (p.Met960Thr) c.854T>C (p.Met285Thr) n.3253T>C c.74T>C (p.Met25Thr) c.2897T>C (p.Met966Thr) c.1943T>C (n.1943T>C) c.148T>C c.857T>C (p.Met286Thr) c.399T>C c.2900T>C (p.Met967Thr) c.2882T>C (p.Met961Thr) c.2720T>C (p.Met907Thr) c.2828T>C (p.Met943Thr) c.2810T>C (p.Met937Thr) c.2534T>C (p.Met845Thr) n.3109T>C c.2702T>C (p.Met901Thr) c.2516T>C (p.Met839Thr) n.3112T>C c.2807T>C (p.Met936Thr) c.2873T>C (p.Met958Thr) c.2825T>C (p.Met942Thr) c.2690T>C (p.Met897Thr) | |
16 | g.28835742T>G | CA395408620 | ATXN2L | c.2879T>G (p.Met960Arg) c.854T>G (p.Met285Arg) n.3253T>G c.74T>G (p.Met25Arg) c.2897T>G (p.Met966Arg) c.1943T>G (n.1943T>G) c.148T>G c.857T>G (p.Met286Arg) c.399T>G c.2900T>G (p.Met967Arg) c.2882T>G (p.Met961Arg) c.2720T>G (p.Met907Arg) c.2828T>G (p.Met943Arg) c.2810T>G (p.Met937Arg) c.2534T>G (p.Met845Arg) n.3109T>G c.2702T>G (p.Met901Arg) c.2516T>G (p.Met839Arg) n.3112T>G c.2807T>G (p.Met936Arg) c.2873T>G (p.Met958Arg) c.2825T>G (p.Met942Arg) c.2690T>G (p.Met897Arg) | |
16 | g.28835743G>A | CA395408621 | ATXN2L | c.2880G>A (p.Met960Ile) c.855G>A (p.Met285Ile) n.3254G>A c.75G>A (p.Met25Ile) c.2898G>A (p.Met966Ile) c.1944G>A (n.1944G>A) c.149G>A c.858G>A (p.Met286Ile) c.400G>A c.2901G>A (p.Met967Ile) c.2883G>A (p.Met961Ile) c.2721G>A (p.Met907Ile) c.2829G>A (p.Met943Ile) c.2811G>A (p.Met937Ile) c.2535G>A (p.Met845Ile) n.3110G>A c.2703G>A (p.Met901Ile) c.2517G>A (p.Met839Ile) n.3113G>A c.2808G>A (p.Met936Ile) c.2874G>A (p.Met958Ile) c.2826G>A (p.Met942Ile) c.2691G>A (p.Met897Ile) | |
16 | g.28835743G>C | CA395408623 | ATXN2L | c.2880G>C (p.Met960Ile) c.855G>C (p.Met285Ile) n.3254G>C c.75G>C (p.Met25Ile) c.2898G>C (p.Met966Ile) c.1944G>C (n.1944G>C) c.149G>C c.858G>C (p.Met286Ile) c.400G>C c.2901G>C (p.Met967Ile) c.2883G>C (p.Met961Ile) c.2721G>C (p.Met907Ile) c.2829G>C (p.Met943Ile) c.2811G>C (p.Met937Ile) c.2535G>C (p.Met845Ile) n.3110G>C c.2703G>C (p.Met901Ile) c.2517G>C (p.Met839Ile) n.3113G>C c.2808G>C (p.Met936Ile) c.2874G>C (p.Met958Ile) c.2826G>C (p.Met942Ile) c.2691G>C (p.Met897Ile) | |
16 | g.28835743G= | CA2215806519 | ATXN2L | c.2880G= (p.Met960=) c.855G= (p.Met285=) n.3254G= c.75G= (p.Met25=) c.2898G= (p.Met966=) c.1944G= (n.1944G=) c.149G= c.858G= (p.Met286=) c.400G= c.2901G= (p.Met967=) c.2883G= (p.Met961=) c.2721G= (p.Met907=) c.2829G= (p.Met943=) c.2811G= (p.Met937=) c.2535G= (p.Met845=) n.3110G= c.2703G= (p.Met901=) c.2517G= (p.Met839=) n.3113G= c.2808G= (p.Met936=) c.2874G= (p.Met958=) c.2826G= (p.Met942=) c.2691G= (p.Met897=) | |
16 | g.28835743G>T | CA395408625 | ATXN2L | c.2880G>T (p.Met960Ile) c.855G>T (p.Met285Ile) n.3254G>T c.75G>T (p.Met25Ile) c.2898G>T (p.Met966Ile) c.1944G>T (n.1944G>T) c.149G>T c.858G>T (p.Met286Ile) c.400G>T c.2901G>T (p.Met967Ile) c.2883G>T (p.Met961Ile) c.2721G>T (p.Met907Ile) c.2829G>T (p.Met943Ile) c.2811G>T (p.Met937Ile) c.2535G>T (p.Met845Ile) n.3110G>T c.2703G>T (p.Met901Ile) c.2517G>T (p.Met839Ile) n.3113G>T c.2808G>T (p.Met936Ile) c.2874G>T (p.Met958Ile) c.2826G>T (p.Met942Ile) c.2691G>T (p.Met897Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835744G>A | CA395408626 | ATXN2L | c.2881G>A (p.Ala961Thr) c.856G>A (p.Ala286Thr) n.3255G>A c.76G>A (p.Ala26Thr) c.2899G>A (p.Ala967Thr) c.1945G>A (n.1945G>A) c.150G>A c.859G>A (p.Ala287Thr) c.401G>A c.2902G>A (p.Ala968Thr) c.2884G>A (p.Ala962Thr) c.2722G>A (p.Ala908Thr) c.2830G>A (p.Ala944Thr) c.2812G>A (p.Ala938Thr) c.2536G>A (p.Ala846Thr) n.3111G>A c.2704G>A (p.Ala902Thr) c.2518G>A (p.Ala840Thr) n.3114G>A c.2809G>A (p.Ala937Thr) c.2875G>A (p.Ala959Thr) c.2827G>A (p.Ala943Thr) c.2692G>A (p.Ala898Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835744G>C | CA395408627 | ATXN2L | c.2881G>C (p.Ala961Pro) c.856G>C (p.Ala286Pro) n.3255G>C c.76G>C (p.Ala26Pro) c.2899G>C (p.Ala967Pro) c.1945G>C (n.1945G>C) c.150G>C c.859G>C (p.Ala287Pro) c.401G>C c.2902G>C (p.Ala968Pro) c.2884G>C (p.Ala962Pro) c.2722G>C (p.Ala908Pro) c.2830G>C (p.Ala944Pro) c.2812G>C (p.Ala938Pro) c.2536G>C (p.Ala846Pro) n.3111G>C c.2704G>C (p.Ala902Pro) c.2518G>C (p.Ala840Pro) n.3114G>C c.2809G>C (p.Ala937Pro) c.2875G>C (p.Ala959Pro) c.2827G>C (p.Ala943Pro) c.2692G>C (p.Ala898Pro) | |
16 | g.28835744G= | CA2215806522 | ATXN2L | c.2881G= (p.Ala961=) c.856G= (p.Ala286=) n.3255G= c.76G= (p.Ala26=) c.2899G= (p.Ala967=) c.1945G= (n.1945G=) c.150G= c.859G= (p.Ala287=) c.401G= c.2902G= (p.Ala968=) c.2884G= (p.Ala962=) c.2722G= (p.Ala908=) c.2830G= (p.Ala944=) c.2812G= (p.Ala938=) c.2536G= (p.Ala846=) n.3111G= c.2704G= (p.Ala902=) c.2518G= (p.Ala840=) n.3114G= c.2809G= (p.Ala937=) c.2875G= (p.Ala959=) c.2827G= (p.Ala943=) c.2692G= (p.Ala898=) | |
16 | g.28835744G>T | CA395408628 | ATXN2L | c.2881G>T (p.Ala961Ser) c.856G>T (p.Ala286Ser) n.3255G>T c.76G>T (p.Ala26Ser) c.2899G>T (p.Ala967Ser) c.1945G>T (n.1945G>T) c.150G>T c.859G>T (p.Ala287Ser) c.401G>T c.2902G>T (p.Ala968Ser) c.2884G>T (p.Ala962Ser) c.2722G>T (p.Ala908Ser) c.2830G>T (p.Ala944Ser) c.2812G>T (p.Ala938Ser) c.2536G>T (p.Ala846Ser) n.3111G>T c.2704G>T (p.Ala902Ser) c.2518G>T (p.Ala840Ser) n.3114G>T c.2809G>T (p.Ala937Ser) c.2875G>T (p.Ala959Ser) c.2827G>T (p.Ala943Ser) c.2692G>T (p.Ala898Ser) | |
16 | g.28835745C>A | CA395408630 | ATXN2L | c.2882C>A (p.Ala961Asp) c.857C>A (p.Ala286Asp) n.3256C>A c.77C>A (p.Ala26Asp) c.2900C>A (p.Ala967Asp) c.1946C>A (n.1946C>A) c.151C>A c.860C>A (p.Ala287Asp) c.402C>A c.2903C>A (p.Ala968Asp) c.2885C>A (p.Ala962Asp) c.2723C>A (p.Ala908Asp) c.2831C>A (p.Ala944Asp) c.2813C>A (p.Ala938Asp) c.2537C>A (p.Ala846Asp) n.3112C>A c.2705C>A (p.Ala902Asp) c.2519C>A (p.Ala840Asp) n.3115C>A c.2810C>A (p.Ala937Asp) c.2876C>A (p.Ala959Asp) c.2828C>A (p.Ala943Asp) c.2693C>A (p.Ala898Asp) | |
16 | g.28835745C>G | CA395408632 | ATXN2L | c.2882C>G (p.Ala961Gly) c.857C>G (p.Ala286Gly) n.3256C>G c.77C>G (p.Ala26Gly) c.2900C>G (p.Ala967Gly) c.1946C>G (n.1946C>G) c.151C>G c.860C>G (p.Ala287Gly) c.402C>G c.2903C>G (p.Ala968Gly) c.2885C>G (p.Ala962Gly) c.2723C>G (p.Ala908Gly) c.2831C>G (p.Ala944Gly) c.2813C>G (p.Ala938Gly) c.2537C>G (p.Ala846Gly) n.3112C>G c.2705C>G (p.Ala902Gly) c.2519C>G (p.Ala840Gly) n.3115C>G c.2810C>G (p.Ala937Gly) c.2876C>G (p.Ala959Gly) c.2828C>G (p.Ala943Gly) c.2693C>G (p.Ala898Gly) | |
16 | g.28835745C>T | CA395408634 | ATXN2L | c.2882C>T (p.Ala961Val) c.857C>T (p.Ala286Val) n.3256C>T c.77C>T (p.Ala26Val) c.2900C>T (p.Ala967Val) c.1946C>T (n.1946C>T) c.151C>T c.860C>T (p.Ala287Val) c.402C>T c.2903C>T (p.Ala968Val) c.2885C>T (p.Ala962Val) c.2723C>T (p.Ala908Val) c.2831C>T (p.Ala944Val) c.2813C>T (p.Ala938Val) c.2537C>T (p.Ala846Val) n.3112C>T c.2705C>T (p.Ala902Val) c.2519C>T (p.Ala840Val) n.3115C>T c.2810C>T (p.Ala937Val) c.2876C>T (p.Ala959Val) c.2828C>T (p.Ala943Val) c.2693C>T (p.Ala898Val) | |
16 | g.28835746C>A | CA494869512 | ATXN2L | c.2883C>A (p.Ala961=) c.858C>A (p.Ala286=) n.3257C>A c.78C>A (p.Ala26=) c.2901C>A (p.Ala967=) c.1947C>A (n.1947C>A) c.152C>A c.861C>A (p.Ala287=) c.403C>A c.2904C>A (p.Ala968=) c.2886C>A (p.Ala962=) c.2724C>A (p.Ala908=) c.2832C>A (p.Ala944=) c.2814C>A (p.Ala938=) c.2538C>A (p.Ala846=) n.3113C>A c.2706C>A (p.Ala902=) c.2520C>A (p.Ala840=) n.3116C>A c.2811C>A (p.Ala937=) c.2877C>A (p.Ala959=) c.2829C>A (p.Ala943=) c.2694C>A (p.Ala898=) | |
16 | g.28835746C= | CA2215806526 | ATXN2L | c.2883C= (p.Ala961=) c.858C= (p.Ala286=) n.3257C= c.78C= (p.Ala26=) c.2901C= (p.Ala967=) c.1947C= (n.1947C=) c.152C= c.861C= (p.Ala287=) c.403C= c.2904C= (p.Ala968=) c.2886C= (p.Ala962=) c.2724C= (p.Ala908=) c.2832C= (p.Ala944=) c.2814C= (p.Ala938=) c.2538C= (p.Ala846=) n.3113C= c.2706C= (p.Ala902=) c.2520C= (p.Ala840=) n.3116C= c.2811C= (p.Ala937=) c.2877C= (p.Ala959=) c.2829C= (p.Ala943=) c.2694C= (p.Ala898=) | |
16 | g.28835746C>G | CA494869514 | ATXN2L | c.2883C>G (p.Ala961=) c.858C>G (p.Ala286=) n.3257C>G c.78C>G (p.Ala26=) c.2901C>G (p.Ala967=) c.1947C>G (n.1947C>G) c.152C>G c.861C>G (p.Ala287=) c.403C>G c.2904C>G (p.Ala968=) c.2886C>G (p.Ala962=) c.2724C>G (p.Ala908=) c.2832C>G (p.Ala944=) c.2814C>G (p.Ala938=) c.2538C>G (p.Ala846=) n.3113C>G c.2706C>G (p.Ala902=) c.2520C>G (p.Ala840=) n.3116C>G c.2811C>G (p.Ala937=) c.2877C>G (p.Ala959=) c.2829C>G (p.Ala943=) c.2694C>G (p.Ala898=) | |
16 | g.28835746C>T | CA494869517 | ATXN2L | c.2883C>T (p.Ala961=) c.858C>T (p.Ala286=) n.3257C>T c.78C>T (p.Ala26=) c.2901C>T (p.Ala967=) c.1947C>T (n.1947C>T) c.152C>T c.861C>T (p.Ala287=) c.403C>T c.2904C>T (p.Ala968=) c.2886C>T (p.Ala962=) c.2724C>T (p.Ala908=) c.2832C>T (p.Ala944=) c.2814C>T (p.Ala938=) c.2538C>T (p.Ala846=) n.3113C>T c.2706C>T (p.Ala902=) c.2520C>T (p.Ala840=) n.3116C>T c.2811C>T (p.Ala937=) c.2877C>T (p.Ala959=) c.2829C>T (p.Ala943=) c.2694C>T (p.Ala898=) | dbSNP |
16 | g.28835747C>A | CA395408638 | ATXN2L | c.2884C>A (p.His962Asn) c.859C>A (p.His287Asn) n.3258C>A c.79C>A (p.His27Asn) c.2902C>A (p.His968Asn) c.1948C>A (n.1948C>A) c.153C>A c.862C>A (p.His288Asn) c.404C>A c.2905C>A (p.His969Asn) c.2887C>A (p.His963Asn) c.2725C>A (p.His909Asn) c.2833C>A (p.His945Asn) c.2815C>A (p.His939Asn) c.2539C>A (p.His847Asn) n.3114C>A c.2707C>A (p.His903Asn) c.2521C>A (p.His841Asn) n.3117C>A c.2812C>A (p.His938Asn) c.2878C>A (p.His960Asn) c.2830C>A (p.His944Asn) c.2695C>A (p.His899Asn) | |
16 | g.28835747C= | CA2215806530 | ATXN2L | c.2884C= (p.His962=) c.859C= (p.His287=) n.3258C= c.79C= (p.His27=) c.2902C= (p.His968=) c.1948C= (n.1948C=) c.153C= c.862C= (p.His288=) c.404C= c.2905C= (p.His969=) c.2887C= (p.His963=) c.2725C= (p.His909=) c.2833C= (p.His945=) c.2815C= (p.His939=) c.2539C= (p.His847=) n.3114C= c.2707C= (p.His903=) c.2521C= (p.His841=) n.3117C= c.2812C= (p.His938=) c.2878C= (p.His960=) c.2830C= (p.His944=) c.2695C= (p.His899=) | |
16 | g.28835747C>G | CA395408640 | ATXN2L | c.2884C>G (p.His962Asp) c.859C>G (p.His287Asp) n.3258C>G c.79C>G (p.His27Asp) c.2902C>G (p.His968Asp) c.1948C>G (n.1948C>G) c.153C>G c.862C>G (p.His288Asp) c.404C>G c.2905C>G (p.His969Asp) c.2887C>G (p.His963Asp) c.2725C>G (p.His909Asp) c.2833C>G (p.His945Asp) c.2815C>G (p.His939Asp) c.2539C>G (p.His847Asp) n.3114C>G c.2707C>G (p.His903Asp) c.2521C>G (p.His841Asp) n.3117C>G c.2812C>G (p.His938Asp) c.2878C>G (p.His960Asp) c.2830C>G (p.His944Asp) c.2695C>G (p.His899Asp) | |
16 | g.28835747C>T | CA395408636 | ATXN2L | c.2884C>T (p.His962Tyr) c.859C>T (p.His287Tyr) n.3258C>T c.79C>T (p.His27Tyr) c.2902C>T (p.His968Tyr) c.1948C>T (n.1948C>T) c.153C>T c.862C>T (p.His288Tyr) c.404C>T c.2905C>T (p.His969Tyr) c.2887C>T (p.His963Tyr) c.2725C>T (p.His909Tyr) c.2833C>T (p.His945Tyr) c.2815C>T (p.His939Tyr) c.2539C>T (p.His847Tyr) n.3114C>T c.2707C>T (p.His903Tyr) c.2521C>T (p.His841Tyr) n.3117C>T c.2812C>T (p.His938Tyr) c.2878C>T (p.His960Tyr) c.2830C>T (p.His944Tyr) c.2695C>T (p.His899Tyr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835748A>C | CA395408642 | ATXN2L | c.2885A>C (p.His962Pro) c.860A>C (p.His287Pro) n.3259A>C c.80A>C (p.His27Pro) c.2903A>C (p.His968Pro) c.1949A>C (n.1949A>C) c.154A>C c.863A>C (p.His288Pro) c.405A>C c.2906A>C (p.His969Pro) c.2888A>C (p.His963Pro) c.2726A>C (p.His909Pro) c.2834A>C (p.His945Pro) c.2816A>C (p.His939Pro) c.2540A>C (p.His847Pro) n.3115A>C c.2708A>C (p.His903Pro) c.2522A>C (p.His841Pro) n.3118A>C c.2813A>C (p.His938Pro) c.2879A>C (p.His960Pro) c.2831A>C (p.His944Pro) c.2696A>C (p.His899Pro) | |
16 | g.28835748A>G | CA395408643 | ATXN2L | c.2885A>G (p.His962Arg) c.860A>G (p.His287Arg) n.3259A>G c.80A>G (p.His27Arg) c.2903A>G (p.His968Arg) c.1949A>G (n.1949A>G) c.154A>G c.863A>G (p.His288Arg) c.405A>G c.2906A>G (p.His969Arg) c.2888A>G (p.His963Arg) c.2726A>G (p.His909Arg) c.2834A>G (p.His945Arg) c.2816A>G (p.His939Arg) c.2540A>G (p.His847Arg) n.3115A>G c.2708A>G (p.His903Arg) c.2522A>G (p.His841Arg) n.3118A>G c.2813A>G (p.His938Arg) c.2879A>G (p.His960Arg) c.2831A>G (p.His944Arg) c.2696A>G (p.His899Arg) | gnomAD v4 |
16 | g.28835748A>T | CA395408644 | ATXN2L | c.2885A>T (p.His962Leu) c.860A>T (p.His287Leu) n.3259A>T c.80A>T (p.His27Leu) c.2903A>T (p.His968Leu) c.1949A>T (n.1949A>T) c.154A>T c.863A>T (p.His288Leu) c.405A>T c.2906A>T (p.His969Leu) c.2888A>T (p.His963Leu) c.2726A>T (p.His909Leu) c.2834A>T (p.His945Leu) c.2816A>T (p.His939Leu) c.2540A>T (p.His847Leu) n.3115A>T c.2708A>T (p.His903Leu) c.2522A>T (p.His841Leu) n.3118A>T c.2813A>T (p.His938Leu) c.2879A>T (p.His960Leu) c.2831A>T (p.His944Leu) c.2696A>T (p.His899Leu) | |
16 | g.28835749T>A | CA395408645 | ATXN2L | c.2886T>A (p.His962Gln) c.861T>A (p.His287Gln) n.3260T>A c.81T>A (p.His27Gln) c.2904T>A (p.His968Gln) c.1950T>A (n.1950T>A) c.155T>A c.864T>A (p.His288Gln) c.406T>A c.2907T>A (p.His969Gln) c.2889T>A (p.His963Gln) c.2727T>A (p.His909Gln) c.2835T>A (p.His945Gln) c.2817T>A (p.His939Gln) c.2541T>A (p.His847Gln) n.3116T>A c.2709T>A (p.His903Gln) c.2523T>A (p.His841Gln) n.3119T>A c.2814T>A (p.His938Gln) c.2880T>A (p.His960Gln) c.2832T>A (p.His944Gln) c.2697T>A (p.His899Gln) | |
16 | g.28835749T>C | CA494869527 | ATXN2L | c.2886T>C (p.His962=) c.861T>C (p.His287=) n.3260T>C c.81T>C (p.His27=) c.2904T>C (p.His968=) c.1950T>C (n.1950T>C) c.155T>C c.864T>C (p.His288=) c.406T>C c.2907T>C (p.His969=) c.2889T>C (p.His963=) c.2727T>C (p.His909=) c.2835T>C (p.His945=) c.2817T>C (p.His939=) c.2541T>C (p.His847=) n.3116T>C c.2709T>C (p.His903=) c.2523T>C (p.His841=) n.3119T>C c.2814T>C (p.His938=) c.2880T>C (p.His960=) c.2832T>C (p.His944=) c.2697T>C (p.His899=) | gnomAD v4 |
16 | g.28835749T>G | CA395408647 | ATXN2L | c.2886T>G (p.His962Gln) c.861T>G (p.His287Gln) n.3260T>G c.81T>G (p.His27Gln) c.2904T>G (p.His968Gln) c.1950T>G (n.1950T>G) c.155T>G c.864T>G (p.His288Gln) c.406T>G c.2907T>G (p.His969Gln) c.2889T>G (p.His963Gln) c.2727T>G (p.His909Gln) c.2835T>G (p.His945Gln) c.2817T>G (p.His939Gln) c.2541T>G (p.His847Gln) n.3116T>G c.2709T>G (p.His903Gln) c.2523T>G (p.His841Gln) n.3119T>G c.2814T>G (p.His938Gln) c.2880T>G (p.His960Gln) c.2832T>G (p.His944Gln) c.2697T>G (p.His899Gln) | |
16 | g.28835750G>A | CA395408650 | ATXN2L | c.2887G>A (p.Val963Ile) c.862G>A (p.Val288Ile) n.3261G>A c.82G>A (p.Val28Ile) c.2905G>A (p.Val969Ile) c.1951G>A (n.1951G>A) c.156G>A c.865G>A (p.Val289Ile) c.407G>A c.2908G>A (p.Val970Ile) c.2890G>A (p.Val964Ile) c.2728G>A (p.Val910Ile) c.2836G>A (p.Val946Ile) c.2818G>A (p.Val940Ile) c.2542G>A (p.Val848Ile) n.3117G>A c.2710G>A (p.Val904Ile) c.2524G>A (p.Val842Ile) n.3120G>A c.2815G>A (p.Val939Ile) c.2881G>A (p.Val961Ile) c.2833G>A (p.Val945Ile) c.2698G>A (p.Val900Ile) | |
16 | g.28835750G>C | CA395408648 | ATXN2L | c.2887G>C (p.Val963Leu) c.862G>C (p.Val288Leu) n.3261G>C c.82G>C (p.Val28Leu) c.2905G>C (p.Val969Leu) c.1951G>C (n.1951G>C) c.156G>C c.865G>C (p.Val289Leu) c.407G>C c.2908G>C (p.Val970Leu) c.2890G>C (p.Val964Leu) c.2728G>C (p.Val910Leu) c.2836G>C (p.Val946Leu) c.2818G>C (p.Val940Leu) c.2542G>C (p.Val848Leu) n.3117G>C c.2710G>C (p.Val904Leu) c.2524G>C (p.Val842Leu) n.3120G>C c.2815G>C (p.Val939Leu) c.2881G>C (p.Val961Leu) c.2833G>C (p.Val945Leu) c.2698G>C (p.Val900Leu) | |
16 | g.28835750G>T | CA395408649 | ATXN2L | c.2887G>T (p.Val963Phe) c.862G>T (p.Val288Phe) n.3261G>T c.82G>T (p.Val28Phe) c.2905G>T (p.Val969Phe) c.1951G>T (n.1951G>T) c.156G>T c.865G>T (p.Val289Phe) c.407G>T c.2908G>T (p.Val970Phe) c.2890G>T (p.Val964Phe) c.2728G>T (p.Val910Phe) c.2836G>T (p.Val946Phe) c.2818G>T (p.Val940Phe) c.2542G>T (p.Val848Phe) n.3117G>T c.2710G>T (p.Val904Phe) c.2524G>T (p.Val842Phe) n.3120G>T c.2815G>T (p.Val939Phe) c.2881G>T (p.Val961Phe) c.2833G>T (p.Val945Phe) c.2698G>T (p.Val900Phe) | |
16 | g.28835751T>A | CA395408652 | ATXN2L | c.2888T>A (p.Val963Asp) c.863T>A (p.Val288Asp) n.3262T>A c.83T>A (p.Val28Asp) c.2906T>A (p.Val969Asp) c.1952T>A (n.1952T>A) c.157T>A c.866T>A (p.Val289Asp) c.408T>A c.2909T>A (p.Val970Asp) c.2891T>A (p.Val964Asp) c.2729T>A (p.Val910Asp) c.2837T>A (p.Val946Asp) c.2819T>A (p.Val940Asp) c.2543T>A (p.Val848Asp) n.3118T>A c.2711T>A (p.Val904Asp) c.2525T>A (p.Val842Asp) n.3121T>A c.2816T>A (p.Val939Asp) c.2882T>A (p.Val961Asp) c.2834T>A (p.Val945Asp) c.2699T>A (p.Val900Asp) | |
16 | g.28835751T>C | CA395408654 | ATXN2L | c.2888T>C (p.Val963Ala) c.863T>C (p.Val288Ala) n.3262T>C c.83T>C (p.Val28Ala) c.2906T>C (p.Val969Ala) c.1952T>C (n.1952T>C) c.157T>C c.866T>C (p.Val289Ala) c.408T>C c.2909T>C (p.Val970Ala) c.2891T>C (p.Val964Ala) c.2729T>C (p.Val910Ala) c.2837T>C (p.Val946Ala) c.2819T>C (p.Val940Ala) c.2543T>C (p.Val848Ala) n.3118T>C c.2711T>C (p.Val904Ala) c.2525T>C (p.Val842Ala) n.3121T>C c.2816T>C (p.Val939Ala) c.2882T>C (p.Val961Ala) c.2834T>C (p.Val945Ala) c.2699T>C (p.Val900Ala) | |
16 | g.28835751T>G | CA395408656 | ATXN2L | c.2888T>G (p.Val963Gly) c.863T>G (p.Val288Gly) n.3262T>G c.83T>G (p.Val28Gly) c.2906T>G (p.Val969Gly) c.1952T>G (n.1952T>G) c.157T>G c.866T>G (p.Val289Gly) c.408T>G c.2909T>G (p.Val970Gly) c.2891T>G (p.Val964Gly) c.2729T>G (p.Val910Gly) c.2837T>G (p.Val946Gly) c.2819T>G (p.Val940Gly) c.2543T>G (p.Val848Gly) n.3118T>G c.2711T>G (p.Val904Gly) c.2525T>G (p.Val842Gly) n.3121T>G c.2816T>G (p.Val939Gly) c.2882T>G (p.Val961Gly) c.2834T>G (p.Val945Gly) c.2699T>G (p.Val900Gly) | |
16 | g.28835752T>A | CA494869537 | ATXN2L | c.2889T>A (p.Val963=) c.864T>A (p.Val288=) n.3263T>A c.84T>A (p.Val28=) c.2907T>A (p.Val969=) c.1953T>A (n.1953T>A) c.158T>A c.867T>A (p.Val289=) c.409T>A c.2910T>A (p.Val970=) c.2892T>A (p.Val964=) c.2730T>A (p.Val910=) c.2838T>A (p.Val946=) c.2820T>A (p.Val940=) c.2544T>A (p.Val848=) n.3119T>A c.2712T>A (p.Val904=) c.2526T>A (p.Val842=) n.3122T>A c.2817T>A (p.Val939=) c.2883T>A (p.Val961=) c.2835T>A (p.Val945=) c.2700T>A (p.Val900=) | |
16 | g.28835752T>C | CA494869539 | ATXN2L | c.2889T>C (p.Val963=) c.864T>C (p.Val288=) n.3263T>C c.84T>C (p.Val28=) c.2907T>C (p.Val969=) c.1953T>C (n.1953T>C) c.158T>C c.867T>C (p.Val289=) c.409T>C c.2910T>C (p.Val970=) c.2892T>C (p.Val964=) c.2730T>C (p.Val910=) c.2838T>C (p.Val946=) c.2820T>C (p.Val940=) c.2544T>C (p.Val848=) n.3119T>C c.2712T>C (p.Val904=) c.2526T>C (p.Val842=) n.3122T>C c.2817T>C (p.Val939=) c.2883T>C (p.Val961=) c.2835T>C (p.Val945=) c.2700T>C (p.Val900=) | |
16 | g.28835752T>G | CA494869541 | ATXN2L | c.2889T>G (p.Val963=) c.864T>G (p.Val288=) n.3263T>G c.84T>G (p.Val28=) c.2907T>G (p.Val969=) c.1953T>G (n.1953T>G) c.158T>G c.867T>G (p.Val289=) c.409T>G c.2910T>G (p.Val970=) c.2892T>G (p.Val964=) c.2730T>G (p.Val910=) c.2838T>G (p.Val946=) c.2820T>G (p.Val940=) c.2544T>G (p.Val848=) n.3119T>G c.2712T>G (p.Val904=) c.2526T>G (p.Val842=) n.3122T>G c.2817T>G (p.Val939=) c.2883T>G (p.Val961=) c.2835T>G (p.Val945=) c.2700T>G (p.Val900=) | |
16 | g.28835753A>C | CA395408658 | ATXN2L | c.2890A>C (p.Thr964Pro) c.865A>C (p.Thr289Pro) n.3264A>C c.85A>C (p.Thr29Pro) c.2908A>C (p.Thr970Pro) c.1954A>C (n.1954A>C) c.159A>C c.868A>C (p.Thr290Pro) c.410A>C c.2911A>C (p.Thr971Pro) c.2893A>C (p.Thr965Pro) c.2731A>C (p.Thr911Pro) c.2839A>C (p.Thr947Pro) c.2821A>C (p.Thr941Pro) c.2545A>C (p.Thr849Pro) n.3120A>C c.2713A>C (p.Thr905Pro) c.2527A>C (p.Thr843Pro) n.3123A>C c.2818A>C (p.Thr940Pro) c.2884A>C (p.Thr962Pro) c.2836A>C (p.Thr946Pro) c.2701A>C (p.Thr901Pro) | |
16 | g.28835753A>G | CA395408660 | ATXN2L | c.2890A>G (p.Thr964Ala) c.865A>G (p.Thr289Ala) n.3264A>G c.85A>G (p.Thr29Ala) c.2908A>G (p.Thr970Ala) c.1954A>G (n.1954A>G) c.159A>G c.868A>G (p.Thr290Ala) c.410A>G c.2911A>G (p.Thr971Ala) c.2893A>G (p.Thr965Ala) c.2731A>G (p.Thr911Ala) c.2839A>G (p.Thr947Ala) c.2821A>G (p.Thr941Ala) c.2545A>G (p.Thr849Ala) n.3120A>G c.2713A>G (p.Thr905Ala) c.2527A>G (p.Thr843Ala) n.3123A>G c.2818A>G (p.Thr940Ala) c.2884A>G (p.Thr962Ala) c.2836A>G (p.Thr946Ala) c.2701A>G (p.Thr901Ala) | |
16 | g.28835753A>T | CA395408662 | ATXN2L | c.2890A>T (p.Thr964Ser) c.865A>T (p.Thr289Ser) n.3264A>T c.85A>T (p.Thr29Ser) c.2908A>T (p.Thr970Ser) c.1954A>T (n.1954A>T) c.159A>T c.868A>T (p.Thr290Ser) c.410A>T c.2911A>T (p.Thr971Ser) c.2893A>T (p.Thr965Ser) c.2731A>T (p.Thr911Ser) c.2839A>T (p.Thr947Ser) c.2821A>T (p.Thr941Ser) c.2545A>T (p.Thr849Ser) n.3120A>T c.2713A>T (p.Thr905Ser) c.2527A>T (p.Thr843Ser) n.3123A>T c.2818A>T (p.Thr940Ser) c.2884A>T (p.Thr962Ser) c.2836A>T (p.Thr946Ser) c.2701A>T (p.Thr901Ser) | |
16 | g.28835754C>A | CA395408666 | ATXN2L | c.2891C>A (p.Thr964Asn) c.866C>A (p.Thr289Asn) n.3265C>A c.86C>A (p.Thr29Asn) c.2909C>A (p.Thr970Asn) c.1955C>A (n.1955C>A) c.160C>A c.869C>A (p.Thr290Asn) c.411C>A c.2912C>A (p.Thr971Asn) c.2894C>A (p.Thr965Asn) c.2732C>A (p.Thr911Asn) c.2840C>A (p.Thr947Asn) c.2822C>A (p.Thr941Asn) c.2546C>A (p.Thr849Asn) n.3121C>A c.2714C>A (p.Thr905Asn) c.2528C>A (p.Thr843Asn) n.3124C>A c.2819C>A (p.Thr940Asn) c.2885C>A (p.Thr962Asn) c.2837C>A (p.Thr946Asn) c.2702C>A (p.Thr901Asn) | |
16 | g.28835754C>G | CA395408668 | ATXN2L | c.2891C>G (p.Thr964Ser) c.866C>G (p.Thr289Ser) n.3265C>G c.86C>G (p.Thr29Ser) c.2909C>G (p.Thr970Ser) c.1955C>G (n.1955C>G) c.160C>G c.869C>G (p.Thr290Ser) c.411C>G c.2912C>G (p.Thr971Ser) c.2894C>G (p.Thr965Ser) c.2732C>G (p.Thr911Ser) c.2840C>G (p.Thr947Ser) c.2822C>G (p.Thr941Ser) c.2546C>G (p.Thr849Ser) n.3121C>G c.2714C>G (p.Thr905Ser) c.2528C>G (p.Thr843Ser) n.3124C>G c.2819C>G (p.Thr940Ser) c.2885C>G (p.Thr962Ser) c.2837C>G (p.Thr946Ser) c.2702C>G (p.Thr901Ser) | gnomAD v4 |
16 | g.28835754C>T | CA395408664 | ATXN2L | c.2891C>T (p.Thr964Ile) c.866C>T (p.Thr289Ile) n.3265C>T c.86C>T (p.Thr29Ile) c.2909C>T (p.Thr970Ile) c.1955C>T (n.1955C>T) c.160C>T c.869C>T (p.Thr290Ile) c.411C>T c.2912C>T (p.Thr971Ile) c.2894C>T (p.Thr965Ile) c.2732C>T (p.Thr911Ile) c.2840C>T (p.Thr947Ile) c.2822C>T (p.Thr941Ile) c.2546C>T (p.Thr849Ile) n.3121C>T c.2714C>T (p.Thr905Ile) c.2528C>T (p.Thr843Ile) n.3124C>T c.2819C>T (p.Thr940Ile) c.2885C>T (p.Thr962Ile) c.2837C>T (p.Thr946Ile) c.2702C>T (p.Thr901Ile) | |
16 | g.28835755C>A | CA494869549 | ATXN2L | c.2892C>A (p.Thr964=) c.867C>A (p.Thr289=) n.3266C>A c.87C>A (p.Thr29=) c.2910C>A (p.Thr970=) c.1956C>A (n.1956C>A) c.161C>A c.870C>A (p.Thr290=) c.412C>A c.2913C>A (p.Thr971=) c.2895C>A (p.Thr965=) c.2733C>A (p.Thr911=) c.2841C>A (p.Thr947=) c.2823C>A (p.Thr941=) c.2547C>A (p.Thr849=) n.3122C>A c.2715C>A (p.Thr905=) c.2529C>A (p.Thr843=) n.3125C>A c.2820C>A (p.Thr940=) c.2886C>A (p.Thr962=) c.2838C>A (p.Thr946=) c.2703C>A (p.Thr901=) | |
16 | g.28835755C= | CA2215806533 | ATXN2L | c.2892C= (p.Thr964=) c.867C= (p.Thr289=) n.3266C= c.87C= (p.Thr29=) c.2910C= (p.Thr970=) c.1956C= (n.1956C=) c.161C= c.870C= (p.Thr290=) c.412C= c.2913C= (p.Thr971=) c.2895C= (p.Thr965=) c.2733C= (p.Thr911=) c.2841C= (p.Thr947=) c.2823C= (p.Thr941=) c.2547C= (p.Thr849=) n.3122C= c.2715C= (p.Thr905=) c.2529C= (p.Thr843=) n.3125C= c.2820C= (p.Thr940=) c.2886C= (p.Thr962=) c.2838C= (p.Thr946=) c.2703C= (p.Thr901=) | |
16 | g.28835755C>G | CA494869552 | ATXN2L | c.2892C>G (p.Thr964=) c.867C>G (p.Thr289=) n.3266C>G c.87C>G (p.Thr29=) c.2910C>G (p.Thr970=) c.1956C>G (n.1956C>G) c.161C>G c.870C>G (p.Thr290=) c.412C>G c.2913C>G (p.Thr971=) c.2895C>G (p.Thr965=) c.2733C>G (p.Thr911=) c.2841C>G (p.Thr947=) c.2823C>G (p.Thr941=) c.2547C>G (p.Thr849=) n.3122C>G c.2715C>G (p.Thr905=) c.2529C>G (p.Thr843=) n.3125C>G c.2820C>G (p.Thr940=) c.2886C>G (p.Thr962=) c.2838C>G (p.Thr946=) c.2703C>G (p.Thr901=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835755C>T | CA494869554 | ATXN2L | c.2892C>T (p.Thr964=) c.867C>T (p.Thr289=) n.3266C>T c.87C>T (p.Thr29=) c.2910C>T (p.Thr970=) c.1956C>T (n.1956C>T) c.161C>T c.870C>T (p.Thr290=) c.412C>T c.2913C>T (p.Thr971=) c.2895C>T (p.Thr965=) c.2733C>T (p.Thr911=) c.2841C>T (p.Thr947=) c.2823C>T (p.Thr941=) c.2547C>T (p.Thr849=) n.3122C>T c.2715C>T (p.Thr905=) c.2529C>T (p.Thr843=) n.3125C>T c.2820C>T (p.Thr940=) c.2886C>T (p.Thr962=) c.2838C>T (p.Thr946=) c.2703C>T (p.Thr901=) | |
16 | g.28835756C>A | CA395408672 | ATXN2L | c.2893C>A (p.Gln965Lys) c.868C>A (p.Gln290Lys) n.3267C>A c.88C>A (p.Gln30Lys) c.2911C>A (p.Gln971Lys) c.1957C>A (n.1957C>A) c.162C>A c.871C>A (p.Gln291Lys) c.413C>A c.2914C>A (p.Gln972Lys) c.2896C>A (p.Gln966Lys) c.2734C>A (p.Gln912Lys) c.2842C>A (p.Gln948Lys) c.2824C>A (p.Gln942Lys) c.2548C>A (p.Gln850Lys) n.3123C>A c.2716C>A (p.Gln906Lys) c.2530C>A (p.Gln844Lys) n.3126C>A c.2821C>A (p.Gln941Lys) c.2887C>A (p.Gln963Lys) c.2839C>A (p.Gln947Lys) c.2704C>A (p.Gln902Lys) | |
16 | g.28835756C>G | CA395408670 | ATXN2L | c.2893C>G (p.Gln965Glu) c.868C>G (p.Gln290Glu) n.3267C>G c.88C>G (p.Gln30Glu) c.2911C>G (p.Gln971Glu) c.1957C>G (n.1957C>G) c.162C>G c.871C>G (p.Gln291Glu) c.413C>G c.2914C>G (p.Gln972Glu) c.2896C>G (p.Gln966Glu) c.2734C>G (p.Gln912Glu) c.2842C>G (p.Gln948Glu) c.2824C>G (p.Gln942Glu) c.2548C>G (p.Gln850Glu) n.3123C>G c.2716C>G (p.Gln906Glu) c.2530C>G (p.Gln844Glu) n.3126C>G c.2821C>G (p.Gln941Glu) c.2887C>G (p.Gln963Glu) c.2839C>G (p.Gln947Glu) c.2704C>G (p.Gln902Glu) | |
16 | g.28835756C>T | CA395408673 | ATXN2L | c.2893C>T (p.Gln965Ter) c.868C>T (p.Gln290Ter) n.3267C>T c.88C>T (p.Gln30Ter) c.2911C>T (p.Gln971Ter) c.1957C>T (n.1957C>T) c.162C>T c.871C>T (p.Gln291Ter) c.413C>T c.2914C>T (p.Gln972Ter) c.2896C>T (p.Gln966Ter) c.2734C>T (p.Gln912Ter) c.2842C>T (p.Gln948Ter) c.2824C>T (p.Gln942Ter) c.2548C>T (p.Gln850Ter) n.3123C>T c.2716C>T (p.Gln906Ter) c.2530C>T (p.Gln844Ter) n.3126C>T c.2821C>T (p.Gln941Ter) c.2887C>T (p.Gln963Ter) c.2839C>T (p.Gln947Ter) c.2704C>T (p.Gln902Ter) | |
16 | g.28835760_28835933del | CA2632528961 | ATXN2L | c.2895+2_2896del c.870+2_871del n.3269+2_3270del c.90+2_91del c.2913+2_2914del c.1959+2_1960del c.164+2_165del c.873+2_874del c.415+2_416del c.2916+2_2917del c.2898+2_2899del c.2736+2_2737del c.2844+2_2845del c.2826+2_2827del c.2550+2_2551del n.3125+2_3126del c.2718+2_2719del c.2532+2_2533del n.3128+2_3129del c.2823+2_2824del c.2889+2_2890del c.2841+2_2842del c.2706+2_2707del c.2895+2_2895+175del | gnomAD v4 |
16 | g.28835757A= | CA2215806536 | ATXN2L | c.2894A= (p.Gln965=) c.869A= (p.Gln290=) n.3268A= c.89A= (p.Gln30=) c.2912A= (p.Gln971=) c.1958A= (n.1958A=) c.163A= c.872A= (p.Gln291=) c.414A= c.2915A= (p.Gln972=) c.2897A= (p.Gln966=) c.2735A= (p.Gln912=) c.2843A= (p.Gln948=) c.2825A= (p.Gln942=) c.2549A= (p.Gln850=) n.3124A= c.2717A= (p.Gln906=) c.2531A= (p.Gln844=) n.3127A= c.2822A= (p.Gln941=) c.2888A= (p.Gln963=) c.2840A= (p.Gln947=) c.2705A= (p.Gln902=) | |
16 | g.28835757A>C | CA395408676 | ATXN2L | c.2894A>C (p.Gln965Pro) c.869A>C (p.Gln290Pro) n.3268A>C c.89A>C (p.Gln30Pro) c.2912A>C (p.Gln971Pro) c.1958A>C (n.1958A>C) c.163A>C c.872A>C (p.Gln291Pro) c.414A>C c.2915A>C (p.Gln972Pro) c.2897A>C (p.Gln966Pro) c.2735A>C (p.Gln912Pro) c.2843A>C (p.Gln948Pro) c.2825A>C (p.Gln942Pro) c.2549A>C (p.Gln850Pro) n.3124A>C c.2717A>C (p.Gln906Pro) c.2531A>C (p.Gln844Pro) n.3127A>C c.2822A>C (p.Gln941Pro) c.2888A>C (p.Gln963Pro) c.2840A>C (p.Gln947Pro) c.2705A>C (p.Gln902Pro) | |
16 | g.28835757A>G | CA395408677 | ATXN2L | c.2894A>G (p.Gln965Arg) c.869A>G (p.Gln290Arg) n.3268A>G c.89A>G (p.Gln30Arg) c.2912A>G (p.Gln971Arg) c.1958A>G (n.1958A>G) c.163A>G c.872A>G (p.Gln291Arg) c.414A>G c.2915A>G (p.Gln972Arg) c.2897A>G (p.Gln966Arg) c.2735A>G (p.Gln912Arg) c.2843A>G (p.Gln948Arg) c.2825A>G (p.Gln942Arg) c.2549A>G (p.Gln850Arg) n.3124A>G c.2717A>G (p.Gln906Arg) c.2531A>G (p.Gln844Arg) n.3127A>G c.2822A>G (p.Gln941Arg) c.2888A>G (p.Gln963Arg) c.2840A>G (p.Gln947Arg) c.2705A>G (p.Gln902Arg) | |
16 | g.28835757A>T | CA395408679 | ATXN2L | c.2894A>T (p.Gln965Leu) c.869A>T (p.Gln290Leu) n.3268A>T c.89A>T (p.Gln30Leu) c.2912A>T (p.Gln971Leu) c.1958A>T (n.1958A>T) c.163A>T c.872A>T (p.Gln291Leu) c.414A>T c.2915A>T (p.Gln972Leu) c.2897A>T (p.Gln966Leu) c.2735A>T (p.Gln912Leu) c.2843A>T (p.Gln948Leu) c.2825A>T (p.Gln942Leu) c.2549A>T (p.Gln850Leu) n.3124A>T c.2717A>T (p.Gln906Leu) c.2531A>T (p.Gln844Leu) n.3127A>T c.2822A>T (p.Gln941Leu) c.2888A>T (p.Gln963Leu) c.2840A>T (p.Gln947Leu) c.2705A>T (p.Gln902Leu) | dbSNP |
16 | g.28835758G>A | CA494869564 | ATXN2L | c.2895G>A (p.Gln965=) c.870G>A (p.Gln290=) n.3269G>A c.90G>A (p.Gln30=) c.2913G>A (p.Gln971=) c.1959G>A (n.1959G>A) c.164G>A c.873G>A (p.Gln291=) c.415G>A c.2916G>A (p.Gln972=) c.2898G>A (p.Gln966=) c.2736G>A (p.Gln912=) c.2844G>A (p.Gln948=) c.2826G>A (p.Gln942=) c.2550G>A (p.Gln850=) n.3125G>A c.2718G>A (p.Gln906=) c.2532G>A (p.Gln844=) n.3128G>A c.2823G>A (p.Gln941=) c.2889G>A (p.Gln963=) c.2841G>A (p.Gln947=) c.2706G>A (p.Gln902=) | |
16 | g.28835758G>C | CA395408682 | ATXN2L | c.2895G>C (p.Gln965His) c.870G>C (p.Gln290His) n.3269G>C c.90G>C (p.Gln30His) c.2913G>C (p.Gln971His) c.1959G>C (n.1959G>C) c.164G>C c.873G>C (p.Gln291His) c.415G>C c.2916G>C (p.Gln972His) c.2898G>C (p.Gln966His) c.2736G>C (p.Gln912His) c.2844G>C (p.Gln948His) c.2826G>C (p.Gln942His) c.2550G>C (p.Gln850His) n.3125G>C c.2718G>C (p.Gln906His) c.2532G>C (p.Gln844His) n.3128G>C c.2823G>C (p.Gln941His) c.2889G>C (p.Gln963His) c.2841G>C (p.Gln947His) c.2706G>C (p.Gln902His) | gnomAD v4 |
16 | g.28835758G>T | CA395408684 | ATXN2L | c.2895G>T (p.Gln965His) c.870G>T (p.Gln290His) n.3269G>T c.90G>T (p.Gln30His) c.2913G>T (p.Gln971His) c.1959G>T (n.1959G>T) c.164G>T c.873G>T (p.Gln291His) c.415G>T c.2916G>T (p.Gln972His) c.2898G>T (p.Gln966His) c.2736G>T (p.Gln912His) c.2844G>T (p.Gln948His) c.2826G>T (p.Gln942His) c.2550G>T (p.Gln850His) n.3125G>T c.2718G>T (p.Gln906His) c.2532G>T (p.Gln844His) n.3128G>T c.2823G>T (p.Gln941His) c.2889G>T (p.Gln963His) c.2841G>T (p.Gln947His) c.2706G>T (p.Gln902His) | |
16 | g.28835759G>A | CA395408685 | ATXN2L | c.2895+1G>A (n.2895+1G>A) c.870+1G>A (n.870+1G>A) n.3269+1G>A c.90+1G>A (n.90+1G>A) c.2913+1G>A (n.2913+1G>A) c.1959+1G>A (n.1959+1G>A) c.164+1G>A c.873+1G>A (n.873+1G>A) c.415+1G>A c.2916+1G>A (n.2916+1G>A) c.2898+1G>A (n.2898+1G>A) c.2736+1G>A (n.2736+1G>A) c.2844+1G>A (n.2844+1G>A) c.2826+1G>A (n.2826+1G>A) c.2550+1G>A (n.2550+1G>A) n.3125+1G>A c.2718+1G>A (n.2718+1G>A) c.2532+1G>A (n.2532+1G>A) n.3128+1G>A c.2823+1G>A (n.2823+1G>A) c.2889+1G>A (n.2889+1G>A) c.2841+1G>A (n.2841+1G>A) c.2706+1G>A (n.2706+1G>A) | gnomAD v4 |
16 | g.28835759G>C | CA395408687 | ATXN2L | c.2895+1G>C (n.2895+1G>C) c.870+1G>C (n.870+1G>C) n.3269+1G>C c.90+1G>C (n.90+1G>C) c.2913+1G>C (n.2913+1G>C) c.1959+1G>C (n.1959+1G>C) c.164+1G>C c.873+1G>C (n.873+1G>C) c.415+1G>C c.2916+1G>C (n.2916+1G>C) c.2898+1G>C (n.2898+1G>C) c.2736+1G>C (n.2736+1G>C) c.2844+1G>C (n.2844+1G>C) c.2826+1G>C (n.2826+1G>C) c.2550+1G>C (n.2550+1G>C) n.3125+1G>C c.2718+1G>C (n.2718+1G>C) c.2532+1G>C (n.2532+1G>C) n.3128+1G>C c.2823+1G>C (n.2823+1G>C) c.2889+1G>C (n.2889+1G>C) c.2841+1G>C (n.2841+1G>C) c.2706+1G>C (n.2706+1G>C) | |
16 | g.28835759G>T | CA395408689 | ATXN2L | c.2895+1G>T (n.2895+1G>T) c.870+1G>T (n.870+1G>T) n.3269+1G>T c.90+1G>T (n.90+1G>T) c.2913+1G>T (n.2913+1G>T) c.1959+1G>T (n.1959+1G>T) c.164+1G>T c.873+1G>T (n.873+1G>T) c.415+1G>T c.2916+1G>T (n.2916+1G>T) c.2898+1G>T (n.2898+1G>T) c.2736+1G>T (n.2736+1G>T) c.2844+1G>T (n.2844+1G>T) c.2826+1G>T (n.2826+1G>T) c.2550+1G>T (n.2550+1G>T) n.3125+1G>T c.2718+1G>T (n.2718+1G>T) c.2532+1G>T (n.2532+1G>T) n.3128+1G>T c.2823+1G>T (n.2823+1G>T) c.2889+1G>T (n.2889+1G>T) c.2841+1G>T (n.2841+1G>T) c.2706+1G>T (n.2706+1G>T) | |
16 | g.28835760T>A | CA395408691 | ATXN2L | c.2895+2T>A (n.2895+2T>A) c.870+2T>A (n.870+2T>A) n.3269+2T>A c.90+2T>A (n.90+2T>A) c.2913+2T>A (n.2913+2T>A) c.1959+2T>A (n.1959+2T>A) c.164+2T>A c.873+2T>A (n.873+2T>A) c.415+2T>A c.2916+2T>A (n.2916+2T>A) c.2898+2T>A (n.2898+2T>A) c.2736+2T>A (n.2736+2T>A) c.2844+2T>A (n.2844+2T>A) c.2826+2T>A (n.2826+2T>A) c.2550+2T>A (n.2550+2T>A) n.3125+2T>A c.2718+2T>A (n.2718+2T>A) c.2532+2T>A (n.2532+2T>A) n.3128+2T>A c.2823+2T>A (n.2823+2T>A) c.2889+2T>A (n.2889+2T>A) c.2841+2T>A (n.2841+2T>A) c.2706+2T>A (n.2706+2T>A) | |
16 | g.28835760T>C | CA395408692 | ATXN2L | c.2895+2T>C (n.2895+2T>C) c.870+2T>C (n.870+2T>C) n.3269+2T>C c.90+2T>C (n.90+2T>C) c.2913+2T>C (n.2913+2T>C) c.1959+2T>C (n.1959+2T>C) c.164+2T>C c.873+2T>C (n.873+2T>C) c.415+2T>C c.2916+2T>C (n.2916+2T>C) c.2898+2T>C (n.2898+2T>C) c.2736+2T>C (n.2736+2T>C) c.2844+2T>C (n.2844+2T>C) c.2826+2T>C (n.2826+2T>C) c.2550+2T>C (n.2550+2T>C) n.3125+2T>C c.2718+2T>C (n.2718+2T>C) c.2532+2T>C (n.2532+2T>C) n.3128+2T>C c.2823+2T>C (n.2823+2T>C) c.2889+2T>C (n.2889+2T>C) c.2841+2T>C (n.2841+2T>C) c.2706+2T>C (n.2706+2T>C) | |
16 | g.28835760T>G | CA395408694 | ATXN2L | c.2895+2T>G (n.2895+2T>G) c.870+2T>G (n.870+2T>G) n.3269+2T>G c.90+2T>G (n.90+2T>G) c.2913+2T>G (n.2913+2T>G) c.1959+2T>G (n.1959+2T>G) c.164+2T>G c.873+2T>G (n.873+2T>G) c.415+2T>G c.2916+2T>G (n.2916+2T>G) c.2898+2T>G (n.2898+2T>G) c.2736+2T>G (n.2736+2T>G) c.2844+2T>G (n.2844+2T>G) c.2826+2T>G (n.2826+2T>G) c.2550+2T>G (n.2550+2T>G) n.3125+2T>G c.2718+2T>G (n.2718+2T>G) c.2532+2T>G (n.2532+2T>G) n.3128+2T>G c.2823+2T>G (n.2823+2T>G) c.2889+2T>G (n.2889+2T>G) c.2841+2T>G (n.2841+2T>G) c.2706+2T>G (n.2706+2T>G) | |
16 | g.28835761A>G | CA2575959512 | ATXN2L | c.2895+3A>G (n.2895+3A>G) c.870+3A>G (n.870+3A>G) n.3269+3A>G c.90+3A>G (n.90+3A>G) c.2913+3A>G (n.2913+3A>G) c.1959+3A>G (n.1959+3A>G) c.164+3A>G c.873+3A>G (n.873+3A>G) c.415+3A>G c.2916+3A>G (n.2916+3A>G) c.2898+3A>G (n.2898+3A>G) c.2736+3A>G (n.2736+3A>G) c.2844+3A>G (n.2844+3A>G) c.2826+3A>G (n.2826+3A>G) c.2550+3A>G (n.2550+3A>G) n.3125+3A>G c.2718+3A>G (n.2718+3A>G) c.2532+3A>G (n.2532+3A>G) n.3128+3A>G c.2823+3A>G (n.2823+3A>G) c.2889+3A>G (n.2889+3A>G) c.2841+3A>G (n.2841+3A>G) c.2706+3A>G (n.2706+3A>G) | gnomAD v4 |
16 | g.28835761A>T | CA2632528964 | ATXN2L | c.2895+3A>T (n.2895+3A>T) c.870+3A>T (n.870+3A>T) n.3269+3A>T c.90+3A>T (n.90+3A>T) c.2913+3A>T (n.2913+3A>T) c.1959+3A>T (n.1959+3A>T) c.164+3A>T c.873+3A>T (n.873+3A>T) c.415+3A>T c.2916+3A>T (n.2916+3A>T) c.2898+3A>T (n.2898+3A>T) c.2736+3A>T (n.2736+3A>T) c.2844+3A>T (n.2844+3A>T) c.2826+3A>T (n.2826+3A>T) c.2550+3A>T (n.2550+3A>T) n.3125+3A>T c.2718+3A>T (n.2718+3A>T) c.2532+3A>T (n.2532+3A>T) n.3128+3A>T c.2823+3A>T (n.2823+3A>T) c.2889+3A>T (n.2889+3A>T) c.2841+3A>T (n.2841+3A>T) c.2706+3A>T (n.2706+3A>T) | gnomAD v4 |
16 | g.28835762A>G | CA2632528965 | ATXN2L | c.2895+4A>G (n.2895+4A>G) c.870+4A>G (n.870+4A>G) n.3269+4A>G c.90+4A>G (n.90+4A>G) c.2913+4A>G (n.2913+4A>G) c.1959+4A>G (n.1959+4A>G) c.164+4A>G c.873+4A>G (n.873+4A>G) c.415+4A>G c.2916+4A>G (n.2916+4A>G) c.2898+4A>G (n.2898+4A>G) c.2736+4A>G (n.2736+4A>G) c.2844+4A>G (n.2844+4A>G) c.2826+4A>G (n.2826+4A>G) c.2550+4A>G (n.2550+4A>G) n.3125+4A>G c.2718+4A>G (n.2718+4A>G) c.2532+4A>G (n.2532+4A>G) n.3128+4A>G c.2823+4A>G (n.2823+4A>G) c.2889+4A>G (n.2889+4A>G) c.2841+4A>G (n.2841+4A>G) c.2706+4A>G (n.2706+4A>G) | gnomAD v4 |
16 | g.28835763G>A | CA7985115 | ATXN2L | c.2895+5G>A (n.2895+5G>A) c.870+5G>A (n.870+5G>A) n.3269+5G>A c.90+5G>A (n.90+5G>A) c.2913+5G>A (n.2913+5G>A) c.1959+5G>A (n.1959+5G>A) c.164+5G>A c.873+5G>A (n.873+5G>A) c.415+5G>A c.2916+5G>A (n.2916+5G>A) c.2898+5G>A (n.2898+5G>A) c.2736+5G>A (n.2736+5G>A) c.2844+5G>A (n.2844+5G>A) c.2826+5G>A (n.2826+5G>A) c.2550+5G>A (n.2550+5G>A) n.3125+5G>A c.2718+5G>A (n.2718+5G>A) c.2532+5G>A (n.2532+5G>A) n.3128+5G>A c.2823+5G>A (n.2823+5G>A) c.2889+5G>A (n.2889+5G>A) c.2841+5G>A (n.2841+5G>A) c.2706+5G>A (n.2706+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835763G= | CA2215806538 | ATXN2L | c.2895+5G= (n.2895+5G=) c.870+5G= (n.870+5G=) n.3269+5G= c.90+5G= (n.90+5G=) c.2913+5G= (n.2913+5G=) c.1959+5G= (n.1959+5G=) c.164+5G= c.873+5G= (n.873+5G=) c.415+5G= c.2916+5G= (n.2916+5G=) c.2898+5G= (n.2898+5G=) c.2736+5G= (n.2736+5G=) c.2844+5G= (n.2844+5G=) c.2826+5G= (n.2826+5G=) c.2550+5G= (n.2550+5G=) n.3125+5G= c.2718+5G= (n.2718+5G=) c.2532+5G= (n.2532+5G=) n.3128+5G= c.2823+5G= (n.2823+5G=) c.2889+5G= (n.2889+5G=) c.2841+5G= (n.2841+5G=) c.2706+5G= (n.2706+5G=) | |
16 | g.28835764A>C | CA2632528967 | ATXN2L | c.2895+6A>C (n.2895+6A>C) c.870+6A>C (n.870+6A>C) n.3269+6A>C c.90+6A>C (n.90+6A>C) c.2913+6A>C (n.2913+6A>C) c.1959+6A>C (n.1959+6A>C) c.164+6A>C c.873+6A>C (n.873+6A>C) c.415+6A>C c.2916+6A>C (n.2916+6A>C) c.2898+6A>C (n.2898+6A>C) c.2736+6A>C (n.2736+6A>C) c.2844+6A>C (n.2844+6A>C) c.2826+6A>C (n.2826+6A>C) c.2550+6A>C (n.2550+6A>C) n.3125+6A>C c.2718+6A>C (n.2718+6A>C) c.2532+6A>C (n.2532+6A>C) n.3128+6A>C c.2823+6A>C (n.2823+6A>C) c.2889+6A>C (n.2889+6A>C) c.2841+6A>C (n.2841+6A>C) c.2706+6A>C (n.2706+6A>C) | gnomAD v4 |
16 | g.28835765G>T | CA2575959513 | ATXN2L | c.2895+7G>T (n.2895+7G>T) c.870+7G>T (n.870+7G>T) n.3269+7G>T c.90+7G>T (n.90+7G>T) c.2913+7G>T (n.2913+7G>T) c.1959+7G>T (n.1959+7G>T) c.164+7G>T c.873+7G>T (n.873+7G>T) c.415+7G>T c.2916+7G>T (n.2916+7G>T) c.2898+7G>T (n.2898+7G>T) c.2736+7G>T (n.2736+7G>T) c.2844+7G>T (n.2844+7G>T) c.2826+7G>T (n.2826+7G>T) c.2550+7G>T (n.2550+7G>T) n.3125+7G>T c.2718+7G>T (n.2718+7G>T) c.2532+7G>T (n.2532+7G>T) n.3128+7G>T c.2823+7G>T (n.2823+7G>T) c.2889+7G>T (n.2889+7G>T) c.2841+7G>T (n.2841+7G>T) c.2706+7G>T (n.2706+7G>T) | gnomAD v4 |
16 | g.28835765_28835766delinsGC | CA2215806542 | ATXN2L | c.2895+7_2895+8delinsGC (n.2895+7_2895+8delinsGC) c.870+7_870+8delinsGC (n.870+7_870+8delinsGC) n.3269+7_3269+8delinsGC c.90+7_90+8delinsGC (n.90+7_90+8delinsGC) c.2913+7_2913+8delinsGC (n.2913+7_2913+8delinsGC) c.1959+7_1959+8delinsGC (n.1959+7_1959+8delinsGC) c.164+7_164+8delinsGC c.873+7_873+8delinsGC (n.873+7_873+8delinsGC) c.415+7_415+8delinsGC c.2916+7_2916+8delinsGC (n.2916+7_2916+8delinsGC) c.2898+7_2898+8delinsGC (n.2898+7_2898+8delinsGC) c.2736+7_2736+8delinsGC (n.2736+7_2736+8delinsGC) c.2844+7_2844+8delinsGC (n.2844+7_2844+8delinsGC) c.2826+7_2826+8delinsGC (n.2826+7_2826+8delinsGC) c.2550+7_2550+8delinsGC (n.2550+7_2550+8delinsGC) n.3125+7_3125+8delinsGC c.2718+7_2718+8delinsGC (n.2718+7_2718+8delinsGC) c.2532+7_2532+8delinsGC (n.2532+7_2532+8delinsGC) n.3128+7_3128+8delinsGC c.2823+7_2823+8delinsGC (n.2823+7_2823+8delinsGC) c.2889+7_2889+8delinsGC (n.2889+7_2889+8delinsGC) c.2841+7_2841+8delinsGC (n.2841+7_2841+8delinsGC) c.2706+7_2706+8delinsGC (n.2706+7_2706+8delinsGC) | |
16 | g.28835766C= | CA2215806544 | ATXN2L | c.2895+8C= (n.2895+8C=) c.870+8C= (n.870+8C=) n.3269+8C= c.90+8C= (n.90+8C=) c.2913+8C= (n.2913+8C=) c.1959+8C= (n.1959+8C=) c.164+8C= c.873+8C= (n.873+8C=) c.415+8C= c.2916+8C= (n.2916+8C=) c.2898+8C= (n.2898+8C=) c.2736+8C= (n.2736+8C=) c.2844+8C= (n.2844+8C=) c.2826+8C= (n.2826+8C=) c.2550+8C= (n.2550+8C=) n.3125+8C= c.2718+8C= (n.2718+8C=) c.2532+8C= (n.2532+8C=) n.3128+8C= c.2823+8C= (n.2823+8C=) c.2889+8C= (n.2889+8C=) c.2841+8C= (n.2841+8C=) c.2706+8C= (n.2706+8C=) | |
16 | g.28835766C>G | CA719715487 | ATXN2L | c.2895+8C>G (n.2895+8C>G) c.870+8C>G (n.870+8C>G) n.3269+8C>G c.90+8C>G (n.90+8C>G) c.2913+8C>G (n.2913+8C>G) c.1959+8C>G (n.1959+8C>G) c.164+8C>G c.873+8C>G (n.873+8C>G) c.415+8C>G c.2916+8C>G (n.2916+8C>G) c.2898+8C>G (n.2898+8C>G) c.2736+8C>G (n.2736+8C>G) c.2844+8C>G (n.2844+8C>G) c.2826+8C>G (n.2826+8C>G) c.2550+8C>G (n.2550+8C>G) n.3125+8C>G c.2718+8C>G (n.2718+8C>G) c.2532+8C>G (n.2532+8C>G) n.3128+8C>G c.2823+8C>G (n.2823+8C>G) c.2889+8C>G (n.2889+8C>G) c.2841+8C>G (n.2841+8C>G) c.2706+8C>G (n.2706+8C>G) | dbSNP |
16 | g.28835768del | CA7985116 | ATXN2L | c.2895+10del (n.2895+10del) c.870+10del (n.870+10del) n.3269+10del c.90+10del (n.90+10del) c.2913+10del (n.2913+10del) c.1959+10del (n.1959+10del) c.164+10del c.873+10del (n.873+10del) c.415+10del c.2916+10del (n.2916+10del) c.2898+10del (n.2898+10del) c.2736+10del (n.2736+10del) c.2844+10del (n.2844+10del) c.2826+10del (n.2826+10del) c.2550+10del (n.2550+10del) n.3125+10del c.2718+10del (n.2718+10del) c.2532+10del (n.2532+10del) n.3128+10del c.2823+10del (n.2823+10del) c.2889+10del (n.2889+10del) c.2841+10del (n.2841+10del) c.2706+10del (n.2706+10del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835767C= | CA2215806545 | ATXN2L | c.2895+9C= (n.2895+9C=) c.870+9C= (n.870+9C=) n.3269+9C= c.90+9C= (n.90+9C=) c.2913+9C= (n.2913+9C=) c.1959+9C= (n.1959+9C=) c.164+9C= c.873+9C= (n.873+9C=) c.415+9C= c.2916+9C= (n.2916+9C=) c.2898+9C= (n.2898+9C=) c.2736+9C= (n.2736+9C=) c.2844+9C= (n.2844+9C=) c.2826+9C= (n.2826+9C=) c.2550+9C= (n.2550+9C=) n.3125+9C= c.2718+9C= (n.2718+9C=) c.2532+9C= (n.2532+9C=) n.3128+9C= c.2823+9C= (n.2823+9C=) c.2889+9C= (n.2889+9C=) c.2841+9C= (n.2841+9C=) c.2706+9C= (n.2706+9C=) | |
16 | g.28835767C>T | CA7985117 | ATXN2L | c.2895+9C>T (n.2895+9C>T) c.870+9C>T (n.870+9C>T) n.3269+9C>T c.90+9C>T (n.90+9C>T) c.2913+9C>T (n.2913+9C>T) c.1959+9C>T (n.1959+9C>T) c.164+9C>T c.873+9C>T (n.873+9C>T) c.415+9C>T c.2916+9C>T (n.2916+9C>T) c.2898+9C>T (n.2898+9C>T) c.2736+9C>T (n.2736+9C>T) c.2844+9C>T (n.2844+9C>T) c.2826+9C>T (n.2826+9C>T) c.2550+9C>T (n.2550+9C>T) n.3125+9C>T c.2718+9C>T (n.2718+9C>T) c.2532+9C>T (n.2532+9C>T) n.3128+9C>T c.2823+9C>T (n.2823+9C>T) c.2889+9C>T (n.2889+9C>T) c.2841+9C>T (n.2841+9C>T) c.2706+9C>T (n.2706+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835768C= | CA2215806546 | ATXN2L | c.2895+10C= (n.2895+10C=) c.870+10C= (n.870+10C=) n.3269+10C= c.90+10C= (n.90+10C=) c.2913+10C= (n.2913+10C=) c.1959+10C= (n.1959+10C=) c.164+10C= c.873+10C= (n.873+10C=) c.415+10C= c.2916+10C= (n.2916+10C=) c.2898+10C= (n.2898+10C=) c.2736+10C= (n.2736+10C=) c.2844+10C= (n.2844+10C=) c.2826+10C= (n.2826+10C=) c.2550+10C= (n.2550+10C=) n.3125+10C= c.2718+10C= (n.2718+10C=) c.2532+10C= (n.2532+10C=) n.3128+10C= c.2823+10C= (n.2823+10C=) c.2889+10C= (n.2889+10C=) c.2841+10C= (n.2841+10C=) c.2706+10C= (n.2706+10C=) | |
16 | g.28835768C>T | CA7985118 | ATXN2L | c.2895+10C>T (n.2895+10C>T) c.870+10C>T (n.870+10C>T) n.3269+10C>T c.90+10C>T (n.90+10C>T) c.2913+10C>T (n.2913+10C>T) c.1959+10C>T (n.1959+10C>T) c.164+10C>T c.873+10C>T (n.873+10C>T) c.415+10C>T c.2916+10C>T (n.2916+10C>T) c.2898+10C>T (n.2898+10C>T) c.2736+10C>T (n.2736+10C>T) c.2844+10C>T (n.2844+10C>T) c.2826+10C>T (n.2826+10C>T) c.2550+10C>T (n.2550+10C>T) n.3125+10C>T c.2718+10C>T (n.2718+10C>T) c.2532+10C>T (n.2532+10C>T) n.3128+10C>T c.2823+10C>T (n.2823+10C>T) c.2889+10C>T (n.2889+10C>T) c.2841+10C>T (n.2841+10C>T) c.2706+10C>T (n.2706+10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835770G>A | CA622161844 | ATXN2L | c.2895+12G>A (n.2895+12G>A) c.870+12G>A (n.870+12G>A) n.3269+12G>A c.90+12G>A (n.90+12G>A) c.2913+12G>A (n.2913+12G>A) c.1959+12G>A (n.1959+12G>A) c.164+12G>A c.873+12G>A (n.873+12G>A) c.415+12G>A c.2916+12G>A (n.2916+12G>A) c.2898+12G>A (n.2898+12G>A) c.2736+12G>A (n.2736+12G>A) c.2844+12G>A (n.2844+12G>A) c.2826+12G>A (n.2826+12G>A) c.2550+12G>A (n.2550+12G>A) n.3125+12G>A c.2718+12G>A (n.2718+12G>A) c.2532+12G>A (n.2532+12G>A) n.3128+12G>A c.2823+12G>A (n.2823+12G>A) c.2889+12G>A (n.2889+12G>A) c.2841+12G>A (n.2841+12G>A) c.2706+12G>A (n.2706+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835770G>C | CA7985120 | ATXN2L | c.2895+12G>C (n.2895+12G>C) c.870+12G>C (n.870+12G>C) n.3269+12G>C c.90+12G>C (n.90+12G>C) c.2913+12G>C (n.2913+12G>C) c.1959+12G>C (n.1959+12G>C) c.164+12G>C c.873+12G>C (n.873+12G>C) c.415+12G>C c.2916+12G>C (n.2916+12G>C) c.2898+12G>C (n.2898+12G>C) c.2736+12G>C (n.2736+12G>C) c.2844+12G>C (n.2844+12G>C) c.2826+12G>C (n.2826+12G>C) c.2550+12G>C (n.2550+12G>C) n.3125+12G>C c.2718+12G>C (n.2718+12G>C) c.2532+12G>C (n.2532+12G>C) n.3128+12G>C c.2823+12G>C (n.2823+12G>C) c.2889+12G>C (n.2889+12G>C) c.2841+12G>C (n.2841+12G>C) c.2706+12G>C (n.2706+12G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835770G= | CA2215806550 | ATXN2L | c.2895+12G= (n.2895+12G=) c.870+12G= (n.870+12G=) n.3269+12G= c.90+12G= (n.90+12G=) c.2913+12G= (n.2913+12G=) c.1959+12G= (n.1959+12G=) c.164+12G= c.873+12G= (n.873+12G=) c.415+12G= c.2916+12G= (n.2916+12G=) c.2898+12G= (n.2898+12G=) c.2736+12G= (n.2736+12G=) c.2844+12G= (n.2844+12G=) c.2826+12G= (n.2826+12G=) c.2550+12G= (n.2550+12G=) n.3125+12G= c.2718+12G= (n.2718+12G=) c.2532+12G= (n.2532+12G=) n.3128+12G= c.2823+12G= (n.2823+12G=) c.2889+12G= (n.2889+12G=) c.2841+12G= (n.2841+12G=) c.2706+12G= (n.2706+12G=) | |
16 | g.28835770G>T | CA7985119 | ATXN2L | c.2895+12G>T (n.2895+12G>T) c.870+12G>T (n.870+12G>T) n.3269+12G>T c.90+12G>T (n.90+12G>T) c.2913+12G>T (n.2913+12G>T) c.1959+12G>T (n.1959+12G>T) c.164+12G>T c.873+12G>T (n.873+12G>T) c.415+12G>T c.2916+12G>T (n.2916+12G>T) c.2898+12G>T (n.2898+12G>T) c.2736+12G>T (n.2736+12G>T) c.2844+12G>T (n.2844+12G>T) c.2826+12G>T (n.2826+12G>T) c.2550+12G>T (n.2550+12G>T) n.3125+12G>T c.2718+12G>T (n.2718+12G>T) c.2532+12G>T (n.2532+12G>T) n.3128+12G>T c.2823+12G>T (n.2823+12G>T) c.2889+12G>T (n.2889+12G>T) c.2841+12G>T (n.2841+12G>T) c.2706+12G>T (n.2706+12G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835771C= | CA2215806551 | ATXN2L | c.2895+13C= (n.2895+13C=) c.870+13C= (n.870+13C=) n.3269+13C= c.90+13C= (n.90+13C=) c.2913+13C= (n.2913+13C=) c.1959+13C= (n.1959+13C=) c.164+13C= c.873+13C= (n.873+13C=) c.415+13C= c.2916+13C= (n.2916+13C=) c.2898+13C= (n.2898+13C=) c.2736+13C= (n.2736+13C=) c.2844+13C= (n.2844+13C=) c.2826+13C= (n.2826+13C=) c.2550+13C= (n.2550+13C=) n.3125+13C= c.2718+13C= (n.2718+13C=) c.2532+13C= (n.2532+13C=) n.3128+13C= c.2823+13C= (n.2823+13C=) c.2889+13C= (n.2889+13C=) c.2841+13C= (n.2841+13C=) c.2706+13C= (n.2706+13C=) | |
16 | g.28835771C>T | CA7985121 | ATXN2L | c.2895+13C>T (n.2895+13C>T) c.870+13C>T (n.870+13C>T) n.3269+13C>T c.90+13C>T (n.90+13C>T) c.2913+13C>T (n.2913+13C>T) c.1959+13C>T (n.1959+13C>T) c.164+13C>T c.873+13C>T (n.873+13C>T) c.415+13C>T c.2916+13C>T (n.2916+13C>T) c.2898+13C>T (n.2898+13C>T) c.2736+13C>T (n.2736+13C>T) c.2844+13C>T (n.2844+13C>T) c.2826+13C>T (n.2826+13C>T) c.2550+13C>T (n.2550+13C>T) n.3125+13C>T c.2718+13C>T (n.2718+13C>T) c.2532+13C>T (n.2532+13C>T) n.3128+13C>T c.2823+13C>T (n.2823+13C>T) c.2889+13C>T (n.2889+13C>T) c.2841+13C>T (n.2841+13C>T) c.2706+13C>T (n.2706+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835772T>G | CA2632528973 | ATXN2L | c.2895+14T>G (n.2895+14T>G) c.870+14T>G (n.870+14T>G) n.3269+14T>G c.90+14T>G (n.90+14T>G) c.2913+14T>G (n.2913+14T>G) c.1959+14T>G (n.1959+14T>G) c.164+14T>G c.873+14T>G (n.873+14T>G) c.415+14T>G c.2916+14T>G (n.2916+14T>G) c.2898+14T>G (n.2898+14T>G) c.2736+14T>G (n.2736+14T>G) c.2844+14T>G (n.2844+14T>G) c.2826+14T>G (n.2826+14T>G) c.2550+14T>G (n.2550+14T>G) n.3125+14T>G c.2718+14T>G (n.2718+14T>G) c.2532+14T>G (n.2532+14T>G) n.3128+14T>G c.2823+14T>G (n.2823+14T>G) c.2889+14T>G (n.2889+14T>G) c.2841+14T>G (n.2841+14T>G) c.2706+14T>G (n.2706+14T>G) | gnomAD v4 |
16 | g.28835773G>A | CA656519231 | ATXN2L | c.2895+15G>A (n.2895+15G>A) c.870+15G>A (n.870+15G>A) n.3269+15G>A c.90+15G>A (n.90+15G>A) c.2913+15G>A (n.2913+15G>A) c.1959+15G>A (n.1959+15G>A) c.164+15G>A c.873+15G>A (n.873+15G>A) c.415+15G>A c.2916+15G>A (n.2916+15G>A) c.2898+15G>A (n.2898+15G>A) c.2736+15G>A (n.2736+15G>A) c.2844+15G>A (n.2844+15G>A) c.2826+15G>A (n.2826+15G>A) c.2550+15G>A (n.2550+15G>A) n.3125+15G>A c.2718+15G>A (n.2718+15G>A) c.2532+15G>A (n.2532+15G>A) n.3128+15G>A c.2823+15G>A (n.2823+15G>A) c.2889+15G>A (n.2889+15G>A) c.2841+15G>A (n.2841+15G>A) c.2706+15G>A (n.2706+15G>A) | COSMIC COSMIC |
16 | g.28835774T>C | CA2215806554 | ATXN2L | c.2895+16T>C (n.2895+16T>C) c.870+16T>C (n.870+16T>C) n.3269+16T>C c.90+16T>C (n.90+16T>C) c.2913+16T>C (n.2913+16T>C) c.1959+16T>C (n.1959+16T>C) c.164+16T>C c.873+16T>C (n.873+16T>C) c.415+16T>C c.2916+16T>C (n.2916+16T>C) c.2898+16T>C (n.2898+16T>C) c.2736+16T>C (n.2736+16T>C) c.2844+16T>C (n.2844+16T>C) c.2826+16T>C (n.2826+16T>C) c.2550+16T>C (n.2550+16T>C) n.3125+16T>C c.2718+16T>C (n.2718+16T>C) c.2532+16T>C (n.2532+16T>C) n.3128+16T>C c.2823+16T>C (n.2823+16T>C) c.2889+16T>C (n.2889+16T>C) c.2841+16T>C (n.2841+16T>C) c.2706+16T>C (n.2706+16T>C) | dbSNP |
16 | g.28835774T= | CA2215806553 | ATXN2L | c.2895+16T= (n.2895+16T=) c.870+16T= (n.870+16T=) n.3269+16T= c.90+16T= (n.90+16T=) c.2913+16T= (n.2913+16T=) c.1959+16T= (n.1959+16T=) c.164+16T= c.873+16T= (n.873+16T=) c.415+16T= c.2916+16T= (n.2916+16T=) c.2898+16T= (n.2898+16T=) c.2736+16T= (n.2736+16T=) c.2844+16T= (n.2844+16T=) c.2826+16T= (n.2826+16T=) c.2550+16T= (n.2550+16T=) n.3125+16T= c.2718+16T= (n.2718+16T=) c.2532+16T= (n.2532+16T=) n.3128+16T= c.2823+16T= (n.2823+16T=) c.2889+16T= (n.2889+16T=) c.2841+16T= (n.2841+16T=) c.2706+16T= (n.2706+16T=) | |
16 | g.28835777C>T | CA2632528974 | ATXN2L | c.2895+19C>T (n.2895+19C>T) c.870+19C>T (n.870+19C>T) n.3269+19C>T c.90+19C>T (n.90+19C>T) c.2913+19C>T (n.2913+19C>T) c.1959+19C>T (n.1959+19C>T) c.164+19C>T c.873+19C>T (n.873+19C>T) c.415+19C>T c.2916+19C>T (n.2916+19C>T) c.2898+19C>T (n.2898+19C>T) c.2736+19C>T (n.2736+19C>T) c.2844+19C>T (n.2844+19C>T) c.2826+19C>T (n.2826+19C>T) c.2550+19C>T (n.2550+19C>T) n.3125+19C>T c.2718+19C>T (n.2718+19C>T) c.2532+19C>T (n.2532+19C>T) n.3128+19C>T c.2823+19C>T (n.2823+19C>T) c.2889+19C>T (n.2889+19C>T) c.2841+19C>T (n.2841+19C>T) c.2706+19C>T (n.2706+19C>T) | gnomAD v4 |
16 | g.28835778A= | CA2215806556 | ATXN2L | c.2895+20A= (n.2895+20A=) c.870+20A= (n.870+20A=) n.3269+20A= c.90+20A= (n.90+20A=) c.2913+20A= (n.2913+20A=) c.1959+20A= (n.1959+20A=) c.164+20A= c.873+20A= (n.873+20A=) c.415+20A= c.2916+20A= (n.2916+20A=) c.2898+20A= (n.2898+20A=) c.2736+20A= (n.2736+20A=) c.2844+20A= (n.2844+20A=) c.2826+20A= (n.2826+20A=) c.2550+20A= (n.2550+20A=) n.3125+20A= c.2718+20A= (n.2718+20A=) c.2532+20A= (n.2532+20A=) n.3128+20A= c.2823+20A= (n.2823+20A=) c.2889+20A= (n.2889+20A=) c.2841+20A= (n.2841+20A=) c.2706+20A= (n.2706+20A=) | |
16 | g.28835778A>G | CA279230819 | ATXN2L | c.2895+20A>G (n.2895+20A>G) c.870+20A>G (n.870+20A>G) n.3269+20A>G c.90+20A>G (n.90+20A>G) c.2913+20A>G (n.2913+20A>G) c.1959+20A>G (n.1959+20A>G) c.164+20A>G c.873+20A>G (n.873+20A>G) c.415+20A>G c.2916+20A>G (n.2916+20A>G) c.2898+20A>G (n.2898+20A>G) c.2736+20A>G (n.2736+20A>G) c.2844+20A>G (n.2844+20A>G) c.2826+20A>G (n.2826+20A>G) c.2550+20A>G (n.2550+20A>G) n.3125+20A>G c.2718+20A>G (n.2718+20A>G) c.2532+20A>G (n.2532+20A>G) n.3128+20A>G c.2823+20A>G (n.2823+20A>G) c.2889+20A>G (n.2889+20A>G) c.2841+20A>G (n.2841+20A>G) c.2706+20A>G (n.2706+20A>G) | dbSNP gnomAD v4 |
16 | g.28835779C>G | CA2632528976 | ATXN2L | c.2895+21C>G (n.2895+21C>G) c.870+21C>G (n.870+21C>G) n.3269+21C>G c.90+21C>G (n.90+21C>G) c.2913+21C>G (n.2913+21C>G) c.1959+21C>G (n.1959+21C>G) c.164+21C>G c.873+21C>G (n.873+21C>G) c.415+21C>G c.2916+21C>G (n.2916+21C>G) c.2898+21C>G (n.2898+21C>G) c.2736+21C>G (n.2736+21C>G) c.2844+21C>G (n.2844+21C>G) c.2826+21C>G (n.2826+21C>G) c.2550+21C>G (n.2550+21C>G) n.3125+21C>G c.2718+21C>G (n.2718+21C>G) c.2532+21C>G (n.2532+21C>G) n.3128+21C>G c.2823+21C>G (n.2823+21C>G) c.2889+21C>G (n.2889+21C>G) c.2841+21C>G (n.2841+21C>G) c.2706+21C>G (n.2706+21C>G) | gnomAD v4 |
16 | g.28835779C>T | CA2632528977 | ATXN2L | c.2895+21C>T (n.2895+21C>T) c.870+21C>T (n.870+21C>T) n.3269+21C>T c.90+21C>T (n.90+21C>T) c.2913+21C>T (n.2913+21C>T) c.1959+21C>T (n.1959+21C>T) c.164+21C>T c.873+21C>T (n.873+21C>T) c.415+21C>T c.2916+21C>T (n.2916+21C>T) c.2898+21C>T (n.2898+21C>T) c.2736+21C>T (n.2736+21C>T) c.2844+21C>T (n.2844+21C>T) c.2826+21C>T (n.2826+21C>T) c.2550+21C>T (n.2550+21C>T) n.3125+21C>T c.2718+21C>T (n.2718+21C>T) c.2532+21C>T (n.2532+21C>T) n.3128+21C>T c.2823+21C>T (n.2823+21C>T) c.2889+21C>T (n.2889+21C>T) c.2841+21C>T (n.2841+21C>T) c.2706+21C>T (n.2706+21C>T) | gnomAD v4 |
16 | g.28835782C>A | CA2215806558 | ATXN2L | c.2895+24C>A (n.2895+24C>A) c.870+24C>A (n.870+24C>A) n.3269+24C>A c.90+24C>A (n.90+24C>A) c.2913+24C>A (n.2913+24C>A) c.1959+24C>A (n.1959+24C>A) c.164+24C>A c.873+24C>A (n.873+24C>A) c.415+24C>A c.2916+24C>A (n.2916+24C>A) c.2898+24C>A (n.2898+24C>A) c.2736+24C>A (n.2736+24C>A) c.2844+24C>A (n.2844+24C>A) c.2826+24C>A (n.2826+24C>A) c.2550+24C>A (n.2550+24C>A) n.3125+24C>A c.2718+24C>A (n.2718+24C>A) c.2532+24C>A (n.2532+24C>A) n.3128+24C>A c.2823+24C>A (n.2823+24C>A) c.2889+24C>A (n.2889+24C>A) c.2841+24C>A (n.2841+24C>A) c.2706+24C>A (n.2706+24C>A) | dbSNP |
16 | g.28835782C= | CA2215806557 | ATXN2L | c.2895+24C= (n.2895+24C=) c.870+24C= (n.870+24C=) n.3269+24C= c.90+24C= (n.90+24C=) c.2913+24C= (n.2913+24C=) c.1959+24C= (n.1959+24C=) c.164+24C= c.873+24C= (n.873+24C=) c.415+24C= c.2916+24C= (n.2916+24C=) c.2898+24C= (n.2898+24C=) c.2736+24C= (n.2736+24C=) c.2844+24C= (n.2844+24C=) c.2826+24C= (n.2826+24C=) c.2550+24C= (n.2550+24C=) n.3125+24C= c.2718+24C= (n.2718+24C=) c.2532+24C= (n.2532+24C=) n.3128+24C= c.2823+24C= (n.2823+24C=) c.2889+24C= (n.2889+24C=) c.2841+24C= (n.2841+24C=) c.2706+24C= (n.2706+24C=) | |
16 | g.28835782C>G | CA2632528979 | ATXN2L | c.2895+24C>G (n.2895+24C>G) c.870+24C>G (n.870+24C>G) n.3269+24C>G c.90+24C>G (n.90+24C>G) c.2913+24C>G (n.2913+24C>G) c.1959+24C>G (n.1959+24C>G) c.164+24C>G c.873+24C>G (n.873+24C>G) c.415+24C>G c.2916+24C>G (n.2916+24C>G) c.2898+24C>G (n.2898+24C>G) c.2736+24C>G (n.2736+24C>G) c.2844+24C>G (n.2844+24C>G) c.2826+24C>G (n.2826+24C>G) c.2550+24C>G (n.2550+24C>G) n.3125+24C>G c.2718+24C>G (n.2718+24C>G) c.2532+24C>G (n.2532+24C>G) n.3128+24C>G c.2823+24C>G (n.2823+24C>G) c.2889+24C>G (n.2889+24C>G) c.2841+24C>G (n.2841+24C>G) c.2706+24C>G (n.2706+24C>G) | gnomAD v4 |
16 | g.28835782C>T | CA656519232 | ATXN2L | c.2895+24C>T (n.2895+24C>T) c.870+24C>T (n.870+24C>T) n.3269+24C>T c.90+24C>T (n.90+24C>T) c.2913+24C>T (n.2913+24C>T) c.1959+24C>T (n.1959+24C>T) c.164+24C>T c.873+24C>T (n.873+24C>T) c.415+24C>T c.2916+24C>T (n.2916+24C>T) c.2898+24C>T (n.2898+24C>T) c.2736+24C>T (n.2736+24C>T) c.2844+24C>T (n.2844+24C>T) c.2826+24C>T (n.2826+24C>T) c.2550+24C>T (n.2550+24C>T) n.3125+24C>T c.2718+24C>T (n.2718+24C>T) c.2532+24C>T (n.2532+24C>T) n.3128+24C>T c.2823+24C>T (n.2823+24C>T) c.2889+24C>T (n.2889+24C>T) c.2841+24C>T (n.2841+24C>T) c.2706+24C>T (n.2706+24C>T) | COSMIC |
16 | g.28835783T>C | CA2575959514 | ATXN2L | c.2895+25T>C (n.2895+25T>C) c.870+25T>C (n.870+25T>C) n.3269+25T>C c.90+25T>C (n.90+25T>C) c.2913+25T>C (n.2913+25T>C) c.1959+25T>C (n.1959+25T>C) c.164+25T>C c.873+25T>C (n.873+25T>C) c.415+25T>C c.2916+25T>C (n.2916+25T>C) c.2898+25T>C (n.2898+25T>C) c.2736+25T>C (n.2736+25T>C) c.2844+25T>C (n.2844+25T>C) c.2826+25T>C (n.2826+25T>C) c.2550+25T>C (n.2550+25T>C) n.3125+25T>C c.2718+25T>C (n.2718+25T>C) c.2532+25T>C (n.2532+25T>C) n.3128+25T>C c.2823+25T>C (n.2823+25T>C) c.2889+25T>C (n.2889+25T>C) c.2841+25T>C (n.2841+25T>C) c.2706+25T>C (n.2706+25T>C) | |
16 | g.28835784G>A | CA2575959515 | ATXN2L | c.2895+26G>A (n.2895+26G>A) c.870+26G>A (n.870+26G>A) n.3269+26G>A c.90+26G>A (n.90+26G>A) c.2913+26G>A (n.2913+26G>A) c.1959+26G>A (n.1959+26G>A) c.164+26G>A c.873+26G>A (n.873+26G>A) c.415+26G>A c.2916+26G>A (n.2916+26G>A) c.2898+26G>A (n.2898+26G>A) c.2736+26G>A (n.2736+26G>A) c.2844+26G>A (n.2844+26G>A) c.2826+26G>A (n.2826+26G>A) c.2550+26G>A (n.2550+26G>A) n.3125+26G>A c.2718+26G>A (n.2718+26G>A) c.2532+26G>A (n.2532+26G>A) n.3128+26G>A c.2823+26G>A (n.2823+26G>A) c.2889+26G>A (n.2889+26G>A) c.2841+26G>A (n.2841+26G>A) c.2706+26G>A (n.2706+26G>A) | |
16 | g.28835785G>A | CA7985122 | ATXN2L | c.2895+27G>A (n.2895+27G>A) c.870+27G>A (n.870+27G>A) n.3269+27G>A c.90+27G>A (n.90+27G>A) c.2913+27G>A (n.2913+27G>A) c.1959+27G>A (n.1959+27G>A) c.164+27G>A c.873+27G>A (n.873+27G>A) c.415+27G>A c.2916+27G>A (n.2916+27G>A) c.2898+27G>A (n.2898+27G>A) c.2736+27G>A (n.2736+27G>A) c.2844+27G>A (n.2844+27G>A) c.2826+27G>A (n.2826+27G>A) c.2550+27G>A (n.2550+27G>A) n.3125+27G>A c.2718+27G>A (n.2718+27G>A) c.2532+27G>A (n.2532+27G>A) n.3128+27G>A c.2823+27G>A (n.2823+27G>A) c.2889+27G>A (n.2889+27G>A) c.2841+27G>A (n.2841+27G>A) c.2706+27G>A (n.2706+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835785G= | CA2215806561 | ATXN2L | c.2895+27G= (n.2895+27G=) c.870+27G= (n.870+27G=) n.3269+27G= c.90+27G= (n.90+27G=) c.2913+27G= (n.2913+27G=) c.1959+27G= (n.1959+27G=) c.164+27G= c.873+27G= (n.873+27G=) c.415+27G= c.2916+27G= (n.2916+27G=) c.2898+27G= (n.2898+27G=) c.2736+27G= (n.2736+27G=) c.2844+27G= (n.2844+27G=) c.2826+27G= (n.2826+27G=) c.2550+27G= (n.2550+27G=) n.3125+27G= c.2718+27G= (n.2718+27G=) c.2532+27G= (n.2532+27G=) n.3128+27G= c.2823+27G= (n.2823+27G=) c.2889+27G= (n.2889+27G=) c.2841+27G= (n.2841+27G=) c.2706+27G= (n.2706+27G=) | |
16 | g.28835786G>A | CA2632528981 | ATXN2L | c.2895+28G>A (n.2895+28G>A) c.870+28G>A (n.870+28G>A) n.3269+28G>A c.90+28G>A (n.90+28G>A) c.2913+28G>A (n.2913+28G>A) c.1959+28G>A (n.1959+28G>A) c.164+28G>A c.873+28G>A (n.873+28G>A) c.415+28G>A c.2916+28G>A (n.2916+28G>A) c.2898+28G>A (n.2898+28G>A) c.2736+28G>A (n.2736+28G>A) c.2844+28G>A (n.2844+28G>A) c.2826+28G>A (n.2826+28G>A) c.2550+28G>A (n.2550+28G>A) n.3125+28G>A c.2718+28G>A (n.2718+28G>A) c.2532+28G>A (n.2532+28G>A) n.3128+28G>A c.2823+28G>A (n.2823+28G>A) c.2889+28G>A (n.2889+28G>A) c.2841+28G>A (n.2841+28G>A) c.2706+28G>A (n.2706+28G>A) | gnomAD v4 |
16 | g.28835786G>C | CA279230822 | ATXN2L | c.2895+28G>C (n.2895+28G>C) c.870+28G>C (n.870+28G>C) n.3269+28G>C c.90+28G>C (n.90+28G>C) c.2913+28G>C (n.2913+28G>C) c.1959+28G>C (n.1959+28G>C) c.164+28G>C c.873+28G>C (n.873+28G>C) c.415+28G>C c.2916+28G>C (n.2916+28G>C) c.2898+28G>C (n.2898+28G>C) c.2736+28G>C (n.2736+28G>C) c.2844+28G>C (n.2844+28G>C) c.2826+28G>C (n.2826+28G>C) c.2550+28G>C (n.2550+28G>C) n.3125+28G>C c.2718+28G>C (n.2718+28G>C) c.2532+28G>C (n.2532+28G>C) n.3128+28G>C c.2823+28G>C (n.2823+28G>C) c.2889+28G>C (n.2889+28G>C) c.2841+28G>C (n.2841+28G>C) c.2706+28G>C (n.2706+28G>C) | dbSNP gnomAD v4 |
16 | g.28835786G= | CA2215806562 | ATXN2L | c.2895+28G= (n.2895+28G=) c.870+28G= (n.870+28G=) n.3269+28G= c.90+28G= (n.90+28G=) c.2913+28G= (n.2913+28G=) c.1959+28G= (n.1959+28G=) c.164+28G= c.873+28G= (n.873+28G=) c.415+28G= c.2916+28G= (n.2916+28G=) c.2898+28G= (n.2898+28G=) c.2736+28G= (n.2736+28G=) c.2844+28G= (n.2844+28G=) c.2826+28G= (n.2826+28G=) c.2550+28G= (n.2550+28G=) n.3125+28G= c.2718+28G= (n.2718+28G=) c.2532+28G= (n.2532+28G=) n.3128+28G= c.2823+28G= (n.2823+28G=) c.2889+28G= (n.2889+28G=) c.2841+28G= (n.2841+28G=) c.2706+28G= (n.2706+28G=) | |
16 | g.28835786G>T | CA2632528982 | ATXN2L | c.2895+28G>T (n.2895+28G>T) c.870+28G>T (n.870+28G>T) n.3269+28G>T c.90+28G>T (n.90+28G>T) c.2913+28G>T (n.2913+28G>T) c.1959+28G>T (n.1959+28G>T) c.164+28G>T c.873+28G>T (n.873+28G>T) c.415+28G>T c.2916+28G>T (n.2916+28G>T) c.2898+28G>T (n.2898+28G>T) c.2736+28G>T (n.2736+28G>T) c.2844+28G>T (n.2844+28G>T) c.2826+28G>T (n.2826+28G>T) c.2550+28G>T (n.2550+28G>T) n.3125+28G>T c.2718+28G>T (n.2718+28G>T) c.2532+28G>T (n.2532+28G>T) n.3128+28G>T c.2823+28G>T (n.2823+28G>T) c.2889+28G>T (n.2889+28G>T) c.2841+28G>T (n.2841+28G>T) c.2706+28G>T (n.2706+28G>T) | gnomAD v4 |
16 | g.28835791_28835808del | CA2632528980 | ATXN2L | c.2895+33_2895+50del (n.2895+33_2895+50del) c.870+33_870+50del (n.870+33_870+50del) n.3269+33_3269+50del c.90+33_90+50del (n.90+33_90+50del) c.2913+33_2913+50del (n.2913+33_2913+50del) c.1959+33_1959+50del (n.1959+33_1959+50del) c.164+33_164+50del c.873+33_873+50del (n.873+33_873+50del) c.415+33_415+50del c.2916+33_2916+50del (n.2916+33_2916+50del) c.2898+33_2898+50del (n.2898+33_2898+50del) c.2736+33_2736+50del (n.2736+33_2736+50del) c.2844+33_2844+50del (n.2844+33_2844+50del) c.2826+33_2826+50del (n.2826+33_2826+50del) c.2550+33_2550+50del (n.2550+33_2550+50del) n.3125+33_3125+50del c.2718+33_2718+50del (n.2718+33_2718+50del) c.2532+33_2532+50del (n.2532+33_2532+50del) n.3128+33_3128+50del c.2823+33_2823+50del (n.2823+33_2823+50del) c.2889+33_2889+50del (n.2889+33_2889+50del) c.2841+33_2841+50del (n.2841+33_2841+50del) c.2706+33_2706+50del (n.2706+33_2706+50del) | gnomAD v4 |
16 | g.28835788C>A | CA2632528983 | ATXN2L | c.2895+30C>A (n.2895+30C>A) c.870+30C>A (n.870+30C>A) n.3269+30C>A c.90+30C>A (n.90+30C>A) c.2913+30C>A (n.2913+30C>A) c.1959+30C>A (n.1959+30C>A) c.164+30C>A c.873+30C>A (n.873+30C>A) c.415+30C>A c.2916+30C>A (n.2916+30C>A) c.2898+30C>A (n.2898+30C>A) c.2736+30C>A (n.2736+30C>A) c.2844+30C>A (n.2844+30C>A) c.2826+30C>A (n.2826+30C>A) c.2550+30C>A (n.2550+30C>A) n.3125+30C>A c.2718+30C>A (n.2718+30C>A) c.2532+30C>A (n.2532+30C>A) n.3128+30C>A c.2823+30C>A (n.2823+30C>A) c.2889+30C>A (n.2889+30C>A) c.2841+30C>A (n.2841+30C>A) c.2706+30C>A (n.2706+30C>A) | gnomAD v4 |
16 | g.28835788C= | CA2215806565 | ATXN2L | c.2895+30C= (n.2895+30C=) c.870+30C= (n.870+30C=) n.3269+30C= c.90+30C= (n.90+30C=) c.2913+30C= (n.2913+30C=) c.1959+30C= (n.1959+30C=) c.164+30C= c.873+30C= (n.873+30C=) c.415+30C= c.2916+30C= (n.2916+30C=) c.2898+30C= (n.2898+30C=) c.2736+30C= (n.2736+30C=) c.2844+30C= (n.2844+30C=) c.2826+30C= (n.2826+30C=) c.2550+30C= (n.2550+30C=) n.3125+30C= c.2718+30C= (n.2718+30C=) c.2532+30C= (n.2532+30C=) n.3128+30C= c.2823+30C= (n.2823+30C=) c.2889+30C= (n.2889+30C=) c.2841+30C= (n.2841+30C=) c.2706+30C= (n.2706+30C=) | |
16 | g.28835788C>T | CA7985123 | ATXN2L | c.2895+30C>T (n.2895+30C>T) c.870+30C>T (n.870+30C>T) n.3269+30C>T c.90+30C>T (n.90+30C>T) c.2913+30C>T (n.2913+30C>T) c.1959+30C>T (n.1959+30C>T) c.164+30C>T c.873+30C>T (n.873+30C>T) c.415+30C>T c.2916+30C>T (n.2916+30C>T) c.2898+30C>T (n.2898+30C>T) c.2736+30C>T (n.2736+30C>T) c.2844+30C>T (n.2844+30C>T) c.2826+30C>T (n.2826+30C>T) c.2550+30C>T (n.2550+30C>T) n.3125+30C>T c.2718+30C>T (n.2718+30C>T) c.2532+30C>T (n.2532+30C>T) n.3128+30C>T c.2823+30C>T (n.2823+30C>T) c.2889+30C>T (n.2889+30C>T) c.2841+30C>T (n.2841+30C>T) c.2706+30C>T (n.2706+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835789T>C | CA2632528984 | ATXN2L | c.2895+31T>C (n.2895+31T>C) c.870+31T>C (n.870+31T>C) n.3269+31T>C c.90+31T>C (n.90+31T>C) c.2913+31T>C (n.2913+31T>C) c.1959+31T>C (n.1959+31T>C) c.164+31T>C c.873+31T>C (n.873+31T>C) c.415+31T>C c.2916+31T>C (n.2916+31T>C) c.2898+31T>C (n.2898+31T>C) c.2736+31T>C (n.2736+31T>C) c.2844+31T>C (n.2844+31T>C) c.2826+31T>C (n.2826+31T>C) c.2550+31T>C (n.2550+31T>C) n.3125+31T>C c.2718+31T>C (n.2718+31T>C) c.2532+31T>C (n.2532+31T>C) n.3128+31T>C c.2823+31T>C (n.2823+31T>C) c.2889+31T>C (n.2889+31T>C) c.2841+31T>C (n.2841+31T>C) c.2706+31T>C (n.2706+31T>C) | gnomAD v4 |
16 | g.28835790G>A | CA2575959516 | ATXN2L | c.2895+32G>A (n.2895+32G>A) c.870+32G>A (n.870+32G>A) n.3269+32G>A c.90+32G>A (n.90+32G>A) c.2913+32G>A (n.2913+32G>A) c.1959+32G>A (n.1959+32G>A) c.164+32G>A c.873+32G>A (n.873+32G>A) c.415+32G>A c.2916+32G>A (n.2916+32G>A) c.2898+32G>A (n.2898+32G>A) c.2736+32G>A (n.2736+32G>A) c.2844+32G>A (n.2844+32G>A) c.2826+32G>A (n.2826+32G>A) c.2550+32G>A (n.2550+32G>A) n.3125+32G>A c.2718+32G>A (n.2718+32G>A) c.2532+32G>A (n.2532+32G>A) n.3128+32G>A c.2823+32G>A (n.2823+32G>A) c.2889+32G>A (n.2889+32G>A) c.2841+32G>A (n.2841+32G>A) c.2706+32G>A (n.2706+32G>A) | |
16 | g.28835793T>G | CA7985124 | ATXN2L | c.2895+35T>G (n.2895+35T>G) c.870+35T>G (n.870+35T>G) n.3269+35T>G c.90+35T>G (n.90+35T>G) c.2913+35T>G (n.2913+35T>G) c.1959+35T>G (n.1959+35T>G) c.164+35T>G c.873+35T>G (n.873+35T>G) c.415+35T>G c.2916+35T>G (n.2916+35T>G) c.2898+35T>G (n.2898+35T>G) c.2736+35T>G (n.2736+35T>G) c.2844+35T>G (n.2844+35T>G) c.2826+35T>G (n.2826+35T>G) c.2550+35T>G (n.2550+35T>G) n.3125+35T>G c.2718+35T>G (n.2718+35T>G) c.2532+35T>G (n.2532+35T>G) n.3128+35T>G c.2823+35T>G (n.2823+35T>G) c.2889+35T>G (n.2889+35T>G) c.2841+35T>G (n.2841+35T>G) c.2706+35T>G (n.2706+35T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835793T= | CA2215806569 | ATXN2L | c.2895+35T= (n.2895+35T=) c.870+35T= (n.870+35T=) n.3269+35T= c.90+35T= (n.90+35T=) c.2913+35T= (n.2913+35T=) c.1959+35T= (n.1959+35T=) c.164+35T= c.873+35T= (n.873+35T=) c.415+35T= c.2916+35T= (n.2916+35T=) c.2898+35T= (n.2898+35T=) c.2736+35T= (n.2736+35T=) c.2844+35T= (n.2844+35T=) c.2826+35T= (n.2826+35T=) c.2550+35T= (n.2550+35T=) n.3125+35T= c.2718+35T= (n.2718+35T=) c.2532+35T= (n.2532+35T=) n.3128+35T= c.2823+35T= (n.2823+35T=) c.2889+35T= (n.2889+35T=) c.2841+35T= (n.2841+35T=) c.2706+35T= (n.2706+35T=) | |
16 | g.28835794G>T | CA2632528985 | ATXN2L | c.2895+36G>T (n.2895+36G>T) c.870+36G>T (n.870+36G>T) n.3269+36G>T c.90+36G>T (n.90+36G>T) c.2913+36G>T (n.2913+36G>T) c.1959+36G>T (n.1959+36G>T) c.164+36G>T c.873+36G>T (n.873+36G>T) c.415+36G>T c.2916+36G>T (n.2916+36G>T) c.2898+36G>T (n.2898+36G>T) c.2736+36G>T (n.2736+36G>T) c.2844+36G>T (n.2844+36G>T) c.2826+36G>T (n.2826+36G>T) c.2550+36G>T (n.2550+36G>T) n.3125+36G>T c.2718+36G>T (n.2718+36G>T) c.2532+36G>T (n.2532+36G>T) n.3128+36G>T c.2823+36G>T (n.2823+36G>T) c.2889+36G>T (n.2889+36G>T) c.2841+36G>T (n.2841+36G>T) c.2706+36G>T (n.2706+36G>T) | gnomAD v4 |
16 | g.28835795C>T | CA2806421850 | ATXN2L | c.2895+37C>T (n.2895+37C>T) c.870+37C>T (n.870+37C>T) n.3269+37C>T c.90+37C>T (n.90+37C>T) c.2913+37C>T (n.2913+37C>T) c.1959+37C>T (n.1959+37C>T) c.164+37C>T c.873+37C>T (n.873+37C>T) c.415+37C>T c.2916+37C>T (n.2916+37C>T) c.2898+37C>T (n.2898+37C>T) c.2736+37C>T (n.2736+37C>T) c.2844+37C>T (n.2844+37C>T) c.2826+37C>T (n.2826+37C>T) c.2550+37C>T (n.2550+37C>T) n.3125+37C>T c.2718+37C>T (n.2718+37C>T) c.2532+37C>T (n.2532+37C>T) n.3128+37C>T c.2823+37C>T (n.2823+37C>T) c.2889+37C>T (n.2889+37C>T) c.2841+37C>T (n.2841+37C>T) c.2706+37C>T (n.2706+37C>T) | |
16 | g.28835796C>A | CA2575959517 | ATXN2L | c.2895+38C>A (n.2895+38C>A) c.870+38C>A (n.870+38C>A) n.3269+38C>A c.90+38C>A (n.90+38C>A) c.2913+38C>A (n.2913+38C>A) c.1959+38C>A (n.1959+38C>A) c.164+38C>A c.873+38C>A (n.873+38C>A) c.415+38C>A c.2916+38C>A (n.2916+38C>A) c.2898+38C>A (n.2898+38C>A) c.2736+38C>A (n.2736+38C>A) c.2844+38C>A (n.2844+38C>A) c.2826+38C>A (n.2826+38C>A) c.2550+38C>A (n.2550+38C>A) n.3125+38C>A c.2718+38C>A (n.2718+38C>A) c.2532+38C>A (n.2532+38C>A) n.3128+38C>A c.2823+38C>A (n.2823+38C>A) c.2889+38C>A (n.2889+38C>A) c.2841+38C>A (n.2841+38C>A) c.2706+38C>A (n.2706+38C>A) | gnomAD v4 |
16 | g.28835796C= | CA2215806572 | ATXN2L | c.2895+38C= (n.2895+38C=) c.870+38C= (n.870+38C=) n.3269+38C= c.90+38C= (n.90+38C=) c.2913+38C= (n.2913+38C=) c.1959+38C= (n.1959+38C=) c.164+38C= c.873+38C= (n.873+38C=) c.415+38C= c.2916+38C= (n.2916+38C=) c.2898+38C= (n.2898+38C=) c.2736+38C= (n.2736+38C=) c.2844+38C= (n.2844+38C=) c.2826+38C= (n.2826+38C=) c.2550+38C= (n.2550+38C=) n.3125+38C= c.2718+38C= (n.2718+38C=) c.2532+38C= (n.2532+38C=) n.3128+38C= c.2823+38C= (n.2823+38C=) c.2889+38C= (n.2889+38C=) c.2841+38C= (n.2841+38C=) c.2706+38C= (n.2706+38C=) | |
16 | g.28835796C>T | CA2215806573 | ATXN2L | c.2895+38C>T (n.2895+38C>T) c.870+38C>T (n.870+38C>T) n.3269+38C>T c.90+38C>T (n.90+38C>T) c.2913+38C>T (n.2913+38C>T) c.1959+38C>T (n.1959+38C>T) c.164+38C>T c.873+38C>T (n.873+38C>T) c.415+38C>T c.2916+38C>T (n.2916+38C>T) c.2898+38C>T (n.2898+38C>T) c.2736+38C>T (n.2736+38C>T) c.2844+38C>T (n.2844+38C>T) c.2826+38C>T (n.2826+38C>T) c.2550+38C>T (n.2550+38C>T) n.3125+38C>T c.2718+38C>T (n.2718+38C>T) c.2532+38C>T (n.2532+38C>T) n.3128+38C>T c.2823+38C>T (n.2823+38C>T) c.2889+38C>T (n.2889+38C>T) c.2841+38C>T (n.2841+38C>T) c.2706+38C>T (n.2706+38C>T) | dbSNP |