Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.78039063A>C | CA360331881 | AP3B1 | c.2642T>G (p.Met881Arg) n.589T>G c.2682T>G (n.2682T>G) c.1988T>G (p.Met663Arg) c.*2551T>G (n.*2551T>G) c.2732T>G (p.Met911Arg) c.2783T>G (p.Met928Arg) n.504T>G c.2789T>G (p.Met930Arg) n.2947T>G n.441T>G c.*314T>G (n.*314T>G) c.2609T>G (p.Met870Arg) c.2654T>G (p.Met885Arg) c.88T>G | |
5 | g.78039063A>G | CA360331882 | AP3B1 | c.2642T>C (p.Met881Thr) n.589T>C c.2682T>C (n.2682T>C) c.1988T>C (p.Met663Thr) c.*2551T>C (n.*2551T>C) c.2732T>C (p.Met911Thr) c.2783T>C (p.Met928Thr) n.504T>C c.2789T>C (p.Met930Thr) n.2947T>C n.441T>C c.*314T>C (n.*314T>C) c.2609T>C (p.Met870Thr) c.2654T>C (p.Met885Thr) c.88T>C | |
5 | g.78039063A>T | CA360331883 | AP3B1 | c.2642T>A (p.Met881Lys) n.589T>A c.2682T>A (n.2682T>A) c.1988T>A (p.Met663Lys) c.*2551T>A (n.*2551T>A) c.2732T>A (p.Met911Lys) c.2783T>A (p.Met928Lys) n.504T>A c.2789T>A (p.Met930Lys) n.2947T>A n.441T>A c.*314T>A (n.*314T>A) c.2609T>A (p.Met870Lys) c.2654T>A (p.Met885Lys) c.88T>A | |
5 | g.78039064T>A | CA360331884 | AP3B1 | c.2641A>T (p.Met881Leu) n.588A>T c.2681A>T (n.2681A>T) c.1987A>T (p.Met663Leu) c.*2550A>T (n.*2550A>T) c.2731A>T (p.Met911Leu) c.2782A>T (p.Met928Leu) n.503A>T c.2788A>T (p.Met930Leu) n.2946A>T n.440A>T c.*313A>T (n.*313A>T) c.2608A>T (p.Met870Leu) c.2653A>T (p.Met885Leu) c.87A>T | |
5 | g.78039064T>C | CA360331885 | AP3B1 | c.2641A>G (p.Met881Val) n.588A>G c.2681A>G (n.2681A>G) c.1987A>G (p.Met663Val) c.*2550A>G (n.*2550A>G) c.2731A>G (p.Met911Val) c.2782A>G (p.Met928Val) n.503A>G c.2788A>G (p.Met930Val) n.2946A>G n.440A>G c.*313A>G (n.*313A>G) c.2608A>G (p.Met870Val) c.2653A>G (p.Met885Val) c.87A>G | |
5 | g.78039064T>G | CA360331886 | AP3B1 | c.2641A>C (p.Met881Leu) n.588A>C c.2681A>C (n.2681A>C) c.1987A>C (p.Met663Leu) c.*2550A>C (n.*2550A>C) c.2731A>C (p.Met911Leu) c.2782A>C (p.Met928Leu) n.503A>C c.2788A>C (p.Met930Leu) n.2946A>C n.440A>C c.*313A>C (n.*313A>C) c.2608A>C (p.Met870Leu) c.2653A>C (p.Met885Leu) c.87A>C | |
5 | g.78039065T>A | CA360331887 | AP3B1 | c.2640A>T (p.Lys880Asn) n.587A>T c.2680A>T (n.2680A>T) c.1986A>T (p.Lys662Asn) c.*2549A>T (n.*2549A>T) c.2730A>T (p.Lys910Asn) c.2781A>T (p.Lys927Asn) n.502A>T c.2787A>T (p.Lys929Asn) n.2945A>T n.439A>T c.*312A>T (n.*312A>T) c.2607A>T (p.Lys869Asn) c.2652A>T (p.Lys884Asn) c.86A>T | |
5 | g.78039065T>C | CA445400126 | AP3B1 | c.2640A>G (p.Lys880=) n.587A>G c.2680A>G (n.2680A>G) c.1986A>G (p.Lys662=) c.*2549A>G (n.*2549A>G) c.2730A>G (p.Lys910=) c.2781A>G (p.Lys927=) n.502A>G c.2787A>G (p.Lys929=) n.2945A>G n.439A>G c.*312A>G (n.*312A>G) c.2607A>G (p.Lys869=) c.2652A>G (p.Lys884=) c.86A>G | dbSNP gnomAD v4 |
5 | g.78039065T>G | CA360331888 | AP3B1 | c.2640A>C (p.Lys880Asn) n.587A>C c.2680A>C (n.2680A>C) c.1986A>C (p.Lys662Asn) c.*2549A>C (n.*2549A>C) c.2730A>C (p.Lys910Asn) c.2781A>C (p.Lys927Asn) n.502A>C c.2787A>C (p.Lys929Asn) n.2945A>C n.439A>C c.*312A>C (n.*312A>C) c.2607A>C (p.Lys869Asn) c.2652A>C (p.Lys884Asn) c.86A>C | |
5 | g.78039065T= | CA1557269092 | AP3B1 | c.2640A= (p.Lys880=) n.587A= c.2680A= (n.2680A=) c.1986A= (p.Lys662=) c.*2549A= (n.*2549A=) c.2730A= (p.Lys910=) c.2781A= (p.Lys927=) n.502A= c.2787A= (p.Lys929=) n.2945A= n.439A= c.*312A= (n.*312A=) c.2607A= (p.Lys869=) c.2652A= (p.Lys884=) c.86A= | |
5 | g.78039066T>A | CA360331889 | AP3B1 | c.2639A>T (p.Lys880Ile) n.586A>T c.2679A>T (n.2679A>T) c.1985A>T (p.Lys662Ile) c.*2548A>T (n.*2548A>T) c.2729A>T (p.Lys910Ile) c.2780A>T (p.Lys927Ile) n.501A>T c.2786A>T (p.Lys929Ile) n.2944A>T n.438A>T c.*311A>T (n.*311A>T) c.2606A>T (p.Lys869Ile) c.2651A>T (p.Lys884Ile) c.85A>T | |
5 | g.78039066T>C | CA360331890 | AP3B1 | c.2639A>G (p.Lys880Arg) n.586A>G c.2679A>G (n.2679A>G) c.1985A>G (p.Lys662Arg) c.*2548A>G (n.*2548A>G) c.2729A>G (p.Lys910Arg) c.2780A>G (p.Lys927Arg) n.501A>G c.2786A>G (p.Lys929Arg) n.2944A>G n.438A>G c.*311A>G (n.*311A>G) c.2606A>G (p.Lys869Arg) c.2651A>G (p.Lys884Arg) c.85A>G | |
5 | g.78039066T>G | CA360331891 | AP3B1 | c.2639A>C (p.Lys880Thr) n.586A>C c.2679A>C (n.2679A>C) c.1985A>C (p.Lys662Thr) c.*2548A>C (n.*2548A>C) c.2729A>C (p.Lys910Thr) c.2780A>C (p.Lys927Thr) n.501A>C c.2786A>C (p.Lys929Thr) n.2944A>C n.438A>C c.*311A>C (n.*311A>C) c.2606A>C (p.Lys869Thr) c.2651A>C (p.Lys884Thr) c.85A>C | |
5 | g.78039067T>A | CA360331894 | AP3B1 | c.2638A>T (p.Lys880Ter) n.585A>T c.2678A>T (n.2678A>T) c.1984A>T (p.Lys662Ter) c.*2547A>T (n.*2547A>T) c.2728A>T (p.Lys910Ter) c.2779A>T (p.Lys927Ter) n.500A>T c.2785A>T (p.Lys929Ter) n.2943A>T n.437A>T c.*310A>T (n.*310A>T) c.2605A>T (p.Lys869Ter) c.2650A>T (p.Lys884Ter) c.84A>T | |
5 | g.78039067T>C | CA360331893 | AP3B1 | c.2638A>G (p.Lys880Glu) n.585A>G c.2678A>G (n.2678A>G) c.1984A>G (p.Lys662Glu) c.*2547A>G (n.*2547A>G) c.2728A>G (p.Lys910Glu) c.2779A>G (p.Lys927Glu) n.500A>G c.2785A>G (p.Lys929Glu) n.2943A>G n.437A>G c.*310A>G (n.*310A>G) c.2605A>G (p.Lys869Glu) c.2650A>G (p.Lys884Glu) c.84A>G | |
5 | g.78039067T>G | CA360331892 | AP3B1 | c.2638A>C (p.Lys880Gln) n.585A>C c.2678A>C (n.2678A>C) c.1984A>C (p.Lys662Gln) c.*2547A>C (n.*2547A>C) c.2728A>C (p.Lys910Gln) c.2779A>C (p.Lys927Gln) n.500A>C c.2785A>C (p.Lys929Gln) n.2943A>C n.437A>C c.*310A>C (n.*310A>C) c.2605A>C (p.Lys869Gln) c.2650A>C (p.Lys884Gln) c.84A>C | |
5 | g.78039068C>A | CA360331895 | AP3B1 | c.2637G>T (p.Met879Ile) n.584G>T c.2677G>T (n.2677G>T) c.1983G>T (p.Met661Ile) c.*2546G>T (n.*2546G>T) c.2727G>T (p.Met909Ile) c.2778G>T (p.Met926Ile) n.499G>T c.2784G>T (p.Met928Ile) n.2942G>T n.436G>T c.*309G>T (n.*309G>T) c.2604G>T (p.Met868Ile) c.2649G>T (p.Met883Ile) c.83G>T | |
5 | g.78039068C>G | CA360331896 | AP3B1 | c.2637G>C (p.Met879Ile) n.584G>C c.2677G>C (n.2677G>C) c.1983G>C (p.Met661Ile) c.*2546G>C (n.*2546G>C) c.2727G>C (p.Met909Ile) c.2778G>C (p.Met926Ile) n.499G>C c.2784G>C (p.Met928Ile) n.2942G>C n.436G>C c.*309G>C (n.*309G>C) c.2604G>C (p.Met868Ile) c.2649G>C (p.Met883Ile) c.83G>C | |
5 | g.78039068C>T | CA360331897 | AP3B1 | c.2637G>A (p.Met879Ile) n.584G>A c.2677G>A (n.2677G>A) c.1983G>A (p.Met661Ile) c.*2546G>A (n.*2546G>A) c.2727G>A (p.Met909Ile) c.2778G>A (p.Met926Ile) n.499G>A c.2784G>A (p.Met928Ile) n.2942G>A n.436G>A c.*309G>A (n.*309G>A) c.2604G>A (p.Met868Ile) c.2649G>A (p.Met883Ile) c.83G>A | |
5 | g.78039069A= | CA1557269096 | AP3B1 | c.2636T= (p.Met879=) n.583T= c.2676T= (n.2676T=) c.1982T= (p.Met661=) c.*2545T= (n.*2545T=) c.2726T= (p.Met909=) c.2777T= (p.Met926=) n.498T= c.2783T= (p.Met928=) n.2941T= n.435T= c.*308T= (n.*308T=) c.2603T= (p.Met868=) c.2648T= (p.Met883=) c.82T= | |
5 | g.78039069A>C | CA360331898 | AP3B1 | c.2636T>G (p.Met879Arg) n.583T>G c.2676T>G (n.2676T>G) c.1982T>G (p.Met661Arg) c.*2545T>G (n.*2545T>G) c.2726T>G (p.Met909Arg) c.2777T>G (p.Met926Arg) n.498T>G c.2783T>G (p.Met928Arg) n.2941T>G n.435T>G c.*308T>G (n.*308T>G) c.2603T>G (p.Met868Arg) c.2648T>G (p.Met883Arg) c.82T>G | |
5 | g.78039069A>G | CA3316681 | AP3B1 | c.2636T>C (p.Met879Thr) n.583T>C c.2676T>C (n.2676T>C) c.1982T>C (p.Met661Thr) c.*2545T>C (n.*2545T>C) c.2726T>C (p.Met909Thr) c.2777T>C (p.Met926Thr) n.498T>C c.2783T>C (p.Met928Thr) n.2941T>C n.435T>C c.*308T>C (n.*308T>C) c.2603T>C (p.Met868Thr) c.2648T>C (p.Met883Thr) c.82T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.78039069A>T | CA360331899 | AP3B1 | c.2636T>A (p.Met879Lys) n.583T>A c.2676T>A (n.2676T>A) c.1982T>A (p.Met661Lys) c.*2545T>A (n.*2545T>A) c.2726T>A (p.Met909Lys) c.2777T>A (p.Met926Lys) n.498T>A c.2783T>A (p.Met928Lys) n.2941T>A n.435T>A c.*308T>A (n.*308T>A) c.2603T>A (p.Met868Lys) c.2648T>A (p.Met883Lys) c.82T>A | |
5 | g.78039070T>A | CA360331900 | AP3B1 | c.2635A>T (p.Met879Leu) n.582A>T c.2675A>T (n.2675A>T) c.1981A>T (p.Met661Leu) c.*2544A>T (n.*2544A>T) c.2725A>T (p.Met909Leu) c.2776A>T (p.Met926Leu) n.497A>T c.2782A>T (p.Met928Leu) n.2940A>T n.434A>T c.*307A>T (n.*307A>T) c.2602A>T (p.Met868Leu) c.2647A>T (p.Met883Leu) c.81A>T | |
5 | g.78039070T>C | CA3316682 | AP3B1 | c.2635A>G (p.Met879Val) n.582A>G c.2675A>G (n.2675A>G) c.1981A>G (p.Met661Val) c.*2544A>G (n.*2544A>G) c.2725A>G (p.Met909Val) c.2776A>G (p.Met926Val) n.497A>G c.2782A>G (p.Met928Val) n.2940A>G n.434A>G c.*307A>G (n.*307A>G) c.2602A>G (p.Met868Val) c.2647A>G (p.Met883Val) c.81A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.78039070T>G | CA360331901 | AP3B1 | c.2635A>C (p.Met879Leu) n.582A>C c.2675A>C (n.2675A>C) c.1981A>C (p.Met661Leu) c.*2544A>C (n.*2544A>C) c.2725A>C (p.Met909Leu) c.2776A>C (p.Met926Leu) n.497A>C c.2782A>C (p.Met928Leu) n.2940A>C n.434A>C c.*307A>C (n.*307A>C) c.2602A>C (p.Met868Leu) c.2647A>C (p.Met883Leu) c.81A>C | |
5 | g.78039070T= | CA1557269099 | AP3B1 | c.2635A= (p.Met879=) n.582A= c.2675A= (n.2675A=) c.1981A= (p.Met661=) c.*2544A= (n.*2544A=) c.2725A= (p.Met909=) c.2776A= (p.Met926=) n.497A= c.2782A= (p.Met928=) n.2940A= n.434A= c.*307A= (n.*307A=) c.2602A= (p.Met868=) c.2647A= (p.Met883=) c.81A= | |
5 | g.78039071G>A | CA445400133 | AP3B1 | c.2634C>T (p.Gly878=) n.581C>T c.2674C>T (n.2674C>T) c.1980C>T (p.Gly660=) c.*2543C>T (n.*2543C>T) c.2724C>T (p.Gly908=) c.2775C>T (p.Gly925=) n.496C>T c.2781C>T (p.Gly927=) n.2939C>T n.433C>T c.*306C>T (n.*306C>T) c.2601C>T (p.Gly867=) c.2646C>T (p.Gly882=) c.80C>T | gnomAD v4 |
5 | g.78039071G>C | CA445400131 | AP3B1 | c.2634C>G (p.Gly878=) n.581C>G c.2674C>G (n.2674C>G) c.1980C>G (p.Gly660=) c.*2543C>G (n.*2543C>G) c.2724C>G (p.Gly908=) c.2775C>G (p.Gly925=) n.496C>G c.2781C>G (p.Gly927=) n.2939C>G n.433C>G c.*306C>G (n.*306C>G) c.2601C>G (p.Gly867=) c.2646C>G (p.Gly882=) c.80C>G | |
5 | g.78039071G>T | CA445400132 | AP3B1 | c.2634C>A (p.Gly878=) n.581C>A c.2674C>A (n.2674C>A) c.1980C>A (p.Gly660=) c.*2543C>A (n.*2543C>A) c.2724C>A (p.Gly908=) c.2775C>A (p.Gly925=) n.496C>A c.2781C>A (p.Gly927=) n.2939C>A n.433C>A c.*306C>A (n.*306C>A) c.2601C>A (p.Gly867=) c.2646C>A (p.Gly882=) c.80C>A | gnomAD v4 |
5 | g.78039072C>A | CA360331902 | AP3B1 | c.2633G>T (p.Gly878Val) n.580G>T c.2673G>T (n.2673G>T) c.1979G>T (p.Gly660Val) c.*2542G>T (n.*2542G>T) c.2723G>T (p.Gly908Val) c.2774G>T (p.Gly925Val) n.495G>T c.2780G>T (p.Gly927Val) n.2938G>T n.432G>T c.*305G>T (n.*305G>T) c.2600G>T (p.Gly867Val) c.2645G>T (p.Gly882Val) c.79G>T | |
5 | g.78039072C= | CA1557269101 | AP3B1 | c.2633G= (p.Gly878=) n.580G= c.2673G= (n.2673G=) c.1979G= (p.Gly660=) c.*2542G= (n.*2542G=) c.2723G= (p.Gly908=) c.2774G= (p.Gly925=) n.495G= c.2780G= (p.Gly927=) n.2938G= n.432G= c.*305G= (n.*305G=) c.2600G= (p.Gly867=) c.2645G= (p.Gly882=) c.79G= | |
5 | g.78039072C>G | CA360331903 | AP3B1 | c.2633G>C (p.Gly878Ala) n.580G>C c.2673G>C (n.2673G>C) c.1979G>C (p.Gly660Ala) c.*2542G>C (n.*2542G>C) c.2723G>C (p.Gly908Ala) c.2774G>C (p.Gly925Ala) n.495G>C c.2780G>C (p.Gly927Ala) n.2938G>C n.432G>C c.*305G>C (n.*305G>C) c.2600G>C (p.Gly867Ala) c.2645G>C (p.Gly882Ala) c.79G>C | |
5 | g.78039072C>T | CA121596971 | AP3B1 | c.2633G>A (p.Gly878Asp) n.580G>A c.2673G>A (n.2673G>A) c.1979G>A (p.Gly660Asp) c.*2542G>A (n.*2542G>A) c.2723G>A (p.Gly908Asp) c.2774G>A (p.Gly925Asp) n.495G>A c.2780G>A (p.Gly927Asp) n.2938G>A n.432G>A c.*305G>A (n.*305G>A) c.2600G>A (p.Gly867Asp) c.2645G>A (p.Gly882Asp) c.79G>A | ClinVar dbSNP |
5 | g.78039073C>A | CA360331904 | AP3B1 | c.2632G>T (p.Gly878Cys) n.579G>T c.2672G>T (n.2672G>T) c.1978G>T (p.Gly660Cys) c.*2541G>T (n.*2541G>T) c.2722G>T (p.Gly908Cys) c.2773G>T (p.Gly925Cys) n.494G>T c.2779G>T (p.Gly927Cys) n.2937G>T n.431G>T c.*304G>T (n.*304G>T) c.2599G>T (p.Gly867Cys) c.2644G>T (p.Gly882Cys) c.78G>T | |
5 | g.78039073C= | CA1557269104 | AP3B1 | c.2632G= (p.Gly878=) n.579G= c.2672G= (n.2672G=) c.1978G= (p.Gly660=) c.*2541G= (n.*2541G=) c.2722G= (p.Gly908=) c.2773G= (p.Gly925=) n.494G= c.2779G= (p.Gly927=) n.2937G= n.431G= c.*304G= (n.*304G=) c.2599G= (p.Gly867=) c.2644G= (p.Gly882=) c.78G= | |
5 | g.78039073C>G | CA360331905 | AP3B1 | c.2632G>C (p.Gly878Arg) n.579G>C c.2672G>C (n.2672G>C) c.1978G>C (p.Gly660Arg) c.*2541G>C (n.*2541G>C) c.2722G>C (p.Gly908Arg) c.2773G>C (p.Gly925Arg) n.494G>C c.2779G>C (p.Gly927Arg) n.2937G>C n.431G>C c.*304G>C (n.*304G>C) c.2599G>C (p.Gly867Arg) c.2644G>C (p.Gly882Arg) c.78G>C | |
5 | g.78039073C>T | CA3316683 | AP3B1 | c.2632G>A (p.Gly878Ser) n.579G>A c.2672G>A (n.2672G>A) c.1978G>A (p.Gly660Ser) c.*2541G>A (n.*2541G>A) c.2722G>A (p.Gly908Ser) c.2773G>A (p.Gly925Ser) n.494G>A c.2779G>A (p.Gly927Ser) n.2937G>A n.431G>A c.*304G>A (n.*304G>A) c.2599G>A (p.Gly867Ser) c.2644G>A (p.Gly882Ser) c.78G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.78039074T>A | CA445400134 | AP3B1 | c.2631A>T (p.Ile877=) n.578A>T c.2671A>T (n.2671A>T) c.1977A>T (p.Ile659=) c.*2540A>T (n.*2540A>T) c.2721A>T (p.Ile907=) c.2772A>T (p.Ile924=) n.493A>T c.2778A>T (p.Ile926=) n.2936A>T n.430A>T c.*303A>T (n.*303A>T) c.2598A>T (p.Ile866=) c.2643A>T (p.Ile881=) c.77A>T | COSMIC |
5 | g.78039074T>C | CA360331906 | AP3B1 | c.2631A>G (p.Ile877Met) n.578A>G c.2671A>G (n.2671A>G) c.1977A>G (p.Ile659Met) c.*2540A>G (n.*2540A>G) c.2721A>G (p.Ile907Met) c.2772A>G (p.Ile924Met) n.493A>G c.2778A>G (p.Ile926Met) n.2936A>G n.430A>G c.*303A>G (n.*303A>G) c.2598A>G (p.Ile866Met) c.2643A>G (p.Ile881Met) c.77A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039074T>G | CA445400136 | AP3B1 | c.2631A>C (p.Ile877=) n.578A>C c.2671A>C (n.2671A>C) c.1977A>C (p.Ile659=) c.*2540A>C (n.*2540A>C) c.2721A>C (p.Ile907=) c.2772A>C (p.Ile924=) n.493A>C c.2778A>C (p.Ile926=) n.2936A>C n.430A>C c.*303A>C (n.*303A>C) c.2598A>C (p.Ile866=) c.2643A>C (p.Ile881=) c.77A>C | |
5 | g.78039074T= | CA1557269108 | AP3B1 | c.2631A= (p.Ile877=) n.578A= c.2671A= (n.2671A=) c.1977A= (p.Ile659=) c.*2540A= (n.*2540A=) c.2721A= (p.Ile907=) c.2772A= (p.Ile924=) n.493A= c.2778A= (p.Ile926=) n.2936A= n.430A= c.*303A= (n.*303A=) c.2598A= (p.Ile866=) c.2643A= (p.Ile881=) c.77A= | |
5 | g.78039075A= | CA1557269111 | AP3B1 | c.2630T= (p.Ile877=) n.577T= c.2670T= (n.2670T=) c.1976T= (p.Ile659=) c.*2539T= (n.*2539T=) c.2720T= (p.Ile907=) c.2771T= (p.Ile924=) n.492T= c.2777T= (p.Ile926=) n.2935T= n.429T= c.*302T= (n.*302T=) c.2597T= (p.Ile866=) c.2642T= (p.Ile881=) c.76T= | |
5 | g.78039075A>C | CA360331907 | AP3B1 | c.2630T>G (p.Ile877Arg) n.577T>G c.2670T>G (n.2670T>G) c.1976T>G (p.Ile659Arg) c.*2539T>G (n.*2539T>G) c.2720T>G (p.Ile907Arg) c.2771T>G (p.Ile924Arg) n.492T>G c.2777T>G (p.Ile926Arg) n.2935T>G n.429T>G c.*302T>G (n.*302T>G) c.2597T>G (p.Ile866Arg) c.2642T>G (p.Ile881Arg) c.76T>G | |
5 | g.78039075A>G | CA3316684 | AP3B1 | c.2630T>C (p.Ile877Thr) n.577T>C c.2670T>C (n.2670T>C) c.1976T>C (p.Ile659Thr) c.*2539T>C (n.*2539T>C) c.2720T>C (p.Ile907Thr) c.2771T>C (p.Ile924Thr) n.492T>C c.2777T>C (p.Ile926Thr) n.2935T>C n.429T>C c.*302T>C (n.*302T>C) c.2597T>C (p.Ile866Thr) c.2642T>C (p.Ile881Thr) c.76T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039075A>T | CA360331908 | AP3B1 | c.2630T>A (p.Ile877Lys) n.577T>A c.2670T>A (n.2670T>A) c.1976T>A (p.Ile659Lys) c.*2539T>A (n.*2539T>A) c.2720T>A (p.Ile907Lys) c.2771T>A (p.Ile924Lys) n.492T>A c.2777T>A (p.Ile926Lys) n.2935T>A n.429T>A c.*302T>A (n.*302T>A) c.2597T>A (p.Ile866Lys) c.2642T>A (p.Ile881Lys) c.76T>A | COSMIC |
5 | g.78039076T>A | CA360331909 | AP3B1 | c.2629A>T (p.Ile877Leu) n.576A>T c.2669A>T (n.2669A>T) c.1975A>T (p.Ile659Leu) c.*2538A>T (n.*2538A>T) c.2719A>T (p.Ile907Leu) c.2770A>T (p.Ile924Leu) n.491A>T c.2776A>T (p.Ile926Leu) n.2934A>T n.428A>T c.*301A>T (n.*301A>T) c.2596A>T (p.Ile866Leu) c.2641A>T (p.Ile881Leu) c.75A>T | |
5 | g.78039076T>C | CA3316685 | AP3B1 | c.2629A>G (p.Ile877Val) n.576A>G c.2669A>G (n.2669A>G) c.1975A>G (p.Ile659Val) c.*2538A>G (n.*2538A>G) c.2719A>G (p.Ile907Val) c.2770A>G (p.Ile924Val) n.491A>G c.2776A>G (p.Ile926Val) n.2934A>G n.428A>G c.*301A>G (n.*301A>G) c.2596A>G (p.Ile866Val) c.2641A>G (p.Ile881Val) c.75A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039076T>G | CA360331910 | AP3B1 | c.2629A>C (p.Ile877Leu) n.576A>C c.2669A>C (n.2669A>C) c.1975A>C (p.Ile659Leu) c.*2538A>C (n.*2538A>C) c.2719A>C (p.Ile907Leu) c.2770A>C (p.Ile924Leu) n.491A>C c.2776A>C (p.Ile926Leu) n.2934A>C n.428A>C c.*301A>C (n.*301A>C) c.2596A>C (p.Ile866Leu) c.2641A>C (p.Ile881Leu) c.75A>C | |
5 | g.78039076T= | CA1557269115 | AP3B1 | c.2629A= (p.Ile877=) n.576A= c.2669A= (n.2669A=) c.1975A= (p.Ile659=) c.*2538A= (n.*2538A=) c.2719A= (p.Ile907=) c.2770A= (p.Ile924=) n.491A= c.2776A= (p.Ile926=) n.2934A= n.428A= c.*301A= (n.*301A=) c.2596A= (p.Ile866=) c.2641A= (p.Ile881=) c.75A= | |
5 | g.78039077A>C | CA445400140 | AP3B1 | c.2628T>G (p.Pro876=) n.575T>G c.2668T>G (n.2668T>G) c.1974T>G (p.Pro658=) c.*2537T>G (n.*2537T>G) c.2718T>G (p.Pro906=) c.2769T>G (p.Pro923=) n.490T>G c.2775T>G (p.Pro925=) n.2933T>G n.427T>G c.*300T>G (n.*300T>G) c.2595T>G (p.Pro865=) c.2640T>G (p.Pro880=) c.74T>G | |
5 | g.78039077A>G | CA445400138 | AP3B1 | c.2628T>C (p.Pro876=) n.575T>C c.2668T>C (n.2668T>C) c.1974T>C (p.Pro658=) c.*2537T>C (n.*2537T>C) c.2718T>C (p.Pro906=) c.2769T>C (p.Pro923=) n.490T>C c.2775T>C (p.Pro925=) n.2933T>C n.427T>C c.*300T>C (n.*300T>C) c.2595T>C (p.Pro865=) c.2640T>C (p.Pro880=) c.74T>C | |
5 | g.78039077A>T | CA445400139 | AP3B1 | c.2628T>A (p.Pro876=) n.575T>A c.2668T>A (n.2668T>A) c.1974T>A (p.Pro658=) c.*2537T>A (n.*2537T>A) c.2718T>A (p.Pro906=) c.2769T>A (p.Pro923=) n.490T>A c.2775T>A (p.Pro925=) n.2933T>A n.427T>A c.*300T>A (n.*300T>A) c.2595T>A (p.Pro865=) c.2640T>A (p.Pro880=) c.74T>A | |
5 | g.78039078G>A | CA360331911 | AP3B1 | c.2627C>T (p.Pro876Leu) n.574C>T c.2667C>T (n.2667C>T) c.1973C>T (p.Pro658Leu) c.*2536C>T (n.*2536C>T) c.2717C>T (p.Pro906Leu) c.2768C>T (p.Pro923Leu) n.489C>T c.2774C>T (p.Pro925Leu) n.2932C>T n.426C>T c.*299C>T (n.*299C>T) c.2594C>T (p.Pro865Leu) c.2639C>T (p.Pro880Leu) c.73C>T | dbSNP |
5 | g.78039078G>C | CA360331912 | AP3B1 | c.2627C>G (p.Pro876Arg) n.574C>G c.2667C>G (n.2667C>G) c.1973C>G (p.Pro658Arg) c.*2536C>G (n.*2536C>G) c.2717C>G (p.Pro906Arg) c.2768C>G (p.Pro923Arg) n.489C>G c.2774C>G (p.Pro925Arg) n.2932C>G n.426C>G c.*299C>G (n.*299C>G) c.2594C>G (p.Pro865Arg) c.2639C>G (p.Pro880Arg) c.73C>G | |
5 | g.78039078G= | CA1557269123 | AP3B1 | c.2627C= (p.Pro876=) n.574C= c.2667C= (n.2667C=) c.1973C= (p.Pro658=) c.*2536C= (n.*2536C=) c.2717C= (p.Pro906=) c.2768C= (p.Pro923=) n.489C= c.2774C= (p.Pro925=) n.2932C= n.426C= c.*299C= (n.*299C=) c.2594C= (p.Pro865=) c.2639C= (p.Pro880=) c.73C= | |
5 | g.78039078G>T | CA360331913 | AP3B1 | c.2627C>A (p.Pro876His) n.574C>A c.2667C>A (n.2667C>A) c.1973C>A (p.Pro658His) c.*2536C>A (n.*2536C>A) c.2717C>A (p.Pro906His) c.2768C>A (p.Pro923His) n.489C>A c.2774C>A (p.Pro925His) n.2932C>A n.426C>A c.*299C>A (n.*299C>A) c.2594C>A (p.Pro865His) c.2639C>A (p.Pro880His) c.73C>A | |
5 | g.78039079G>A | CA360331915 | AP3B1 | c.2626C>T (p.Pro876Ser) n.573C>T c.2666C>T (n.2666C>T) c.1972C>T (p.Pro658Ser) c.*2535C>T (n.*2535C>T) c.2716C>T (p.Pro906Ser) c.2767C>T (p.Pro923Ser) n.488C>T c.2773C>T (p.Pro925Ser) n.2931C>T n.425C>T c.*298C>T (n.*298C>T) c.2593C>T (p.Pro865Ser) c.2638C>T (p.Pro880Ser) c.72C>T | COSMIC |
5 | g.78039079G>C | CA360331914 | AP3B1 | c.2626C>G (p.Pro876Ala) n.573C>G c.2666C>G (n.2666C>G) c.1972C>G (p.Pro658Ala) c.*2535C>G (n.*2535C>G) c.2716C>G (p.Pro906Ala) c.2767C>G (p.Pro923Ala) n.488C>G c.2773C>G (p.Pro925Ala) n.2931C>G n.425C>G c.*298C>G (n.*298C>G) c.2593C>G (p.Pro865Ala) c.2638C>G (p.Pro880Ala) c.72C>G | |
5 | g.78039079G= | CA1557269126 | AP3B1 | c.2626C= (p.Pro876=) n.573C= c.2666C= (n.2666C=) c.1972C= (p.Pro658=) c.*2535C= (n.*2535C=) c.2716C= (p.Pro906=) c.2767C= (p.Pro923=) n.488C= c.2773C= (p.Pro925=) n.2931C= n.425C= c.*298C= (n.*298C=) c.2593C= (p.Pro865=) c.2638C= (p.Pro880=) c.72C= | |
5 | g.78039079G>T | CA3316686 | AP3B1 | c.2626C>A (p.Pro876Thr) n.573C>A c.2666C>A (n.2666C>A) c.1972C>A (p.Pro658Thr) c.*2535C>A (n.*2535C>A) c.2716C>A (p.Pro906Thr) c.2767C>A (p.Pro923Thr) n.488C>A c.2773C>A (p.Pro925Thr) n.2931C>A n.425C>A c.*298C>A (n.*298C>A) c.2593C>A (p.Pro865Thr) c.2638C>A (p.Pro880Thr) c.72C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039080A>C | CA445400145 | AP3B1 | c.2625T>G (p.Leu875=) n.572T>G c.2665T>G (n.2665T>G) c.1971T>G (p.Leu657=) c.*2534T>G (n.*2534T>G) c.2715T>G (p.Leu905=) c.2766T>G (p.Leu922=) n.487T>G c.2772T>G (p.Leu924=) n.2930T>G n.424T>G c.*297T>G (n.*297T>G) c.2592T>G (p.Leu864=) c.2637T>G (p.Leu879=) c.71T>G | |
5 | g.78039080A>G | CA445400147 | AP3B1 | c.2625T>C (p.Leu875=) n.572T>C c.2665T>C (n.2665T>C) c.1971T>C (p.Leu657=) c.*2534T>C (n.*2534T>C) c.2715T>C (p.Leu905=) c.2766T>C (p.Leu922=) n.487T>C c.2772T>C (p.Leu924=) n.2930T>C n.424T>C c.*297T>C (n.*297T>C) c.2592T>C (p.Leu864=) c.2637T>C (p.Leu879=) c.71T>C | |
5 | g.78039080A>T | CA445400149 | AP3B1 | c.2625T>A (p.Leu875=) n.572T>A c.2665T>A (n.2665T>A) c.1971T>A (p.Leu657=) c.*2534T>A (n.*2534T>A) c.2715T>A (p.Leu905=) c.2766T>A (p.Leu922=) n.487T>A c.2772T>A (p.Leu924=) n.2930T>A n.424T>A c.*297T>A (n.*297T>A) c.2592T>A (p.Leu864=) c.2637T>A (p.Leu879=) c.71T>A | ClinVar gnomAD v4 |
5 | g.78039081A>C | CA360331916 | AP3B1 | c.2624T>G (p.Leu875Arg) n.571T>G c.2664T>G (n.2664T>G) c.1970T>G (p.Leu657Arg) c.*2533T>G (n.*2533T>G) c.2714T>G (p.Leu905Arg) c.2765T>G (p.Leu922Arg) n.486T>G c.2771T>G (p.Leu924Arg) n.2929T>G n.423T>G c.*296T>G (n.*296T>G) c.2591T>G (p.Leu864Arg) c.2636T>G (p.Leu879Arg) c.70T>G | |
5 | g.78039081A>G | CA360331917 | AP3B1 | c.2624T>C (p.Leu875Pro) n.571T>C c.2664T>C (n.2664T>C) c.1970T>C (p.Leu657Pro) c.*2533T>C (n.*2533T>C) c.2714T>C (p.Leu905Pro) c.2765T>C (p.Leu922Pro) n.486T>C c.2771T>C (p.Leu924Pro) n.2929T>C n.423T>C c.*296T>C (n.*296T>C) c.2591T>C (p.Leu864Pro) c.2636T>C (p.Leu879Pro) c.70T>C | |
5 | g.78039081A>T | CA360331918 | AP3B1 | c.2624T>A (p.Leu875His) n.571T>A c.2664T>A (n.2664T>A) c.1970T>A (p.Leu657His) c.*2533T>A (n.*2533T>A) c.2714T>A (p.Leu905His) c.2765T>A (p.Leu922His) n.486T>A c.2771T>A (p.Leu924His) n.2929T>A n.423T>A c.*296T>A (n.*296T>A) c.2591T>A (p.Leu864His) c.2636T>A (p.Leu879His) c.70T>A | |
5 | g.78039082del | CA2695204585 | AP3B1 | c.2623del (p.Leu875PhefsTer3) n.570del c.2663del (n.2663del) c.1969del (p.Leu657PhefsTer3) c.*2532del (n.*2532del) c.2713del (p.Leu905PhefsTer3) c.2764del (p.Leu922PhefsTer3) n.485del c.2770del (p.Leu924PhefsTer3) n.2928del n.422del c.*295del (n.*295del) c.2590del (p.Leu864PhefsTer3) c.2635del (p.Leu879PhefsTer3) c.69del | |
5 | g.78039082G>A | CA360331919 | AP3B1 | c.2623C>T (p.Leu875Phe) n.570C>T c.2663C>T (n.2663C>T) c.1969C>T (p.Leu657Phe) c.*2532C>T (n.*2532C>T) c.2713C>T (p.Leu905Phe) c.2764C>T (p.Leu922Phe) n.485C>T c.2770C>T (p.Leu924Phe) n.2928C>T n.422C>T c.*295C>T (n.*295C>T) c.2590C>T (p.Leu864Phe) c.2635C>T (p.Leu879Phe) c.69C>T | |
5 | g.78039082G>C | CA360331920 | AP3B1 | c.2623C>G (p.Leu875Val) n.570C>G c.2663C>G (n.2663C>G) c.1969C>G (p.Leu657Val) c.*2532C>G (n.*2532C>G) c.2713C>G (p.Leu905Val) c.2764C>G (p.Leu922Val) n.485C>G c.2770C>G (p.Leu924Val) n.2928C>G n.422C>G c.*295C>G (n.*295C>G) c.2590C>G (p.Leu864Val) c.2635C>G (p.Leu879Val) c.69C>G | |
5 | g.78039082G= | CA1557269128 | AP3B1 | c.2623C= (p.Leu875=) n.570C= c.2663C= (n.2663C=) c.1969C= (p.Leu657=) c.*2532C= (n.*2532C=) c.2713C= (p.Leu905=) c.2764C= (p.Leu922=) n.485C= c.2770C= (p.Leu924=) n.2928C= n.422C= c.*295C= (n.*295C=) c.2590C= (p.Leu864=) c.2635C= (p.Leu879=) c.69C= | |
5 | g.78039082G>T | CA360331921 | AP3B1 | c.2623C>A (p.Leu875Ile) n.570C>A c.2663C>A (n.2663C>A) c.1969C>A (p.Leu657Ile) c.*2532C>A (n.*2532C>A) c.2713C>A (p.Leu905Ile) c.2764C>A (p.Leu922Ile) n.485C>A c.2770C>A (p.Leu924Ile) n.2928C>A n.422C>A c.*295C>A (n.*295C>A) c.2590C>A (p.Leu864Ile) c.2635C>A (p.Leu879Ile) c.69C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.78039082_78039083delinsGT | CA1557269129 | AP3B1 | c.2622_2623delinsAC (p.Lys874=) n.569_570delinsAC c.2662_2663delinsAC (n.2662_2663delinsAC) c.1968_1969delinsAC (p.Lys656=) c.*2531_*2532delinsAC (n.*2531_*2532delinsAC) c.2712_2713delinsAC (p.Lys904=) c.2763_2764delinsAC (p.Lys921=) n.484_485delinsAC c.2769_2770delinsAC (p.Lys923=) n.2927_2928delinsAC n.421_422delinsAC c.*294_*295delinsAC (n.*294_*295delinsAC) c.2589_2590delinsAC (p.Lys863=) c.2634_2635delinsAC (p.Lys878=) c.68_69delinsAC | |
5 | g.78039082_78039083insA | CA2674351445 | AP3B1 | c.2622_2623insT (p.Leu875SerfsTer11) n.569_570insT c.2662_2663insT (n.2662_2663insT) c.1968_1969insT (p.Leu657SerfsTer11) c.*2531_*2532insT (n.*2531_*2532insT) c.2712_2713insT (p.Leu905SerfsTer11) c.2763_2764insT (p.Leu922SerfsTer11) n.484_485insT c.2769_2770insT (p.Leu924SerfsTer11) n.2927_2928insT n.421_422insT c.*294_*295insT (n.*294_*295insT) c.2589_2590insT (p.Leu864SerfsTer11) c.2634_2635insT (p.Leu879SerfsTer11) c.68_69insT | gnomAD v4 |
5 | g.78039083T>A | CA360331922 | AP3B1 | c.2622A>T (p.Lys874Asn) n.569A>T c.2662A>T (n.2662A>T) c.1968A>T (p.Lys656Asn) c.*2531A>T (n.*2531A>T) c.2712A>T (p.Lys904Asn) c.2763A>T (p.Lys921Asn) n.484A>T c.2769A>T (p.Lys923Asn) n.2927A>T n.421A>T c.*294A>T (n.*294A>T) c.2589A>T (p.Lys863Asn) c.2634A>T (p.Lys878Asn) c.68A>T | |
5 | g.78039083T>C | CA3316688 | AP3B1 | c.2622A>G (p.Lys874=) n.569A>G c.2662A>G (n.2662A>G) c.1968A>G (p.Lys656=) c.*2531A>G (n.*2531A>G) c.2712A>G (p.Lys904=) c.2763A>G (p.Lys921=) n.484A>G c.2769A>G (p.Lys923=) n.2927A>G n.421A>G c.*294A>G (n.*294A>G) c.2589A>G (p.Lys863=) c.2634A>G (p.Lys878=) c.68A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039083T>G | CA3316687 | AP3B1 | c.2622A>C (p.Lys874Asn) n.569A>C c.2662A>C (n.2662A>C) c.1968A>C (p.Lys656Asn) c.*2531A>C (n.*2531A>C) c.2712A>C (p.Lys904Asn) c.2763A>C (p.Lys921Asn) n.484A>C c.2769A>C (p.Lys923Asn) n.2927A>C n.421A>C c.*294A>C (n.*294A>C) c.2589A>C (p.Lys863Asn) c.2634A>C (p.Lys878Asn) c.68A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039083T= | CA1557269140 | AP3B1 | c.2622A= (p.Lys874=) n.569A= c.2662A= (n.2662A=) c.1968A= (p.Lys656=) c.*2531A= (n.*2531A=) c.2712A= (p.Lys904=) c.2763A= (p.Lys921=) n.484A= c.2769A= (p.Lys923=) n.2927A= n.421A= c.*294A= (n.*294A=) c.2589A= (p.Lys863=) c.2634A= (p.Lys878=) c.68A= | |
5 | g.78039090dup | CA2674351444 | AP3B1 | c.2622dup (p.Leu875ThrfsTer11) n.569dup c.2662dup (n.2662dup) c.1968dup (p.Leu657ThrfsTer11) c.*2531dup (n.*2531dup) c.2712dup (p.Leu905ThrfsTer11) c.2763dup (p.Leu922ThrfsTer11) n.484dup c.2769dup (p.Leu924ThrfsTer11) n.2927dup n.421dup c.*294dup (n.*294dup) c.2589dup (p.Leu864ThrfsTer11) c.2634dup (p.Leu879ThrfsTer11) c.68dup | gnomAD v4 |
5 | g.78039090del | CA445400150 | AP3B1 | c.2622del (p.Lys874AsnfsTer4) n.569del c.2662del (n.2662del) c.1968del (p.Lys656AsnfsTer4) c.*2531del (n.*2531del) c.2712del (p.Lys904AsnfsTer4) c.2763del (p.Lys921AsnfsTer4) n.484del c.2769del (p.Lys923AsnfsTer4) n.2927del n.421del c.*294del (n.*294del) c.2589del (p.Lys863AsnfsTer4) c.2634del (p.Lys878AsnfsTer4) c.68del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.78039084T>A | CA360331923 | AP3B1 | c.2621A>T (p.Lys874Ile) n.568A>T c.2661A>T (n.2661A>T) c.1967A>T (p.Lys656Ile) c.*2530A>T (n.*2530A>T) c.2711A>T (p.Lys904Ile) c.2762A>T (p.Lys921Ile) n.483A>T c.2768A>T (p.Lys923Ile) n.2926A>T n.420A>T c.*293A>T (n.*293A>T) c.2588A>T (p.Lys863Ile) c.2633A>T (p.Lys878Ile) c.67A>T | |
5 | g.78039084T>C | CA360331924 | AP3B1 | c.2621A>G (p.Lys874Arg) n.568A>G c.2661A>G (n.2661A>G) c.1967A>G (p.Lys656Arg) c.*2530A>G (n.*2530A>G) c.2711A>G (p.Lys904Arg) c.2762A>G (p.Lys921Arg) n.483A>G c.2768A>G (p.Lys923Arg) n.2926A>G n.420A>G c.*293A>G (n.*293A>G) c.2588A>G (p.Lys863Arg) c.2633A>G (p.Lys878Arg) c.67A>G | |
5 | g.78039084T>G | CA360331925 | AP3B1 | c.2621A>C (p.Lys874Thr) n.568A>C c.2661A>C (n.2661A>C) c.1967A>C (p.Lys656Thr) c.*2530A>C (n.*2530A>C) c.2711A>C (p.Lys904Thr) c.2762A>C (p.Lys921Thr) n.483A>C c.2768A>C (p.Lys923Thr) n.2926A>C n.420A>C c.*293A>C (n.*293A>C) c.2588A>C (p.Lys863Thr) c.2633A>C (p.Lys878Thr) c.67A>C | |
5 | g.78039085T>A | CA360331926 | AP3B1 | c.2620A>T (p.Lys874Ter) n.567A>T c.2660A>T (n.2660A>T) c.1966A>T (p.Lys656Ter) c.*2529A>T (n.*2529A>T) c.2710A>T (p.Lys904Ter) c.2761A>T (p.Lys921Ter) n.482A>T c.2767A>T (p.Lys923Ter) n.2925A>T n.419A>T c.*292A>T (n.*292A>T) c.2587A>T (p.Lys863Ter) c.2632A>T (p.Lys878Ter) c.66A>T | |
5 | g.78039085T>C | CA3316689 | AP3B1 | c.2620A>G (p.Lys874Glu) n.567A>G c.2660A>G (n.2660A>G) c.1966A>G (p.Lys656Glu) c.*2529A>G (n.*2529A>G) c.2710A>G (p.Lys904Glu) c.2761A>G (p.Lys921Glu) n.482A>G c.2767A>G (p.Lys923Glu) n.2925A>G n.419A>G c.*292A>G (n.*292A>G) c.2587A>G (p.Lys863Glu) c.2632A>G (p.Lys878Glu) c.66A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039085T>G | CA360331927 | AP3B1 | c.2620A>C (p.Lys874Gln) n.567A>C c.2660A>C (n.2660A>C) c.1966A>C (p.Lys656Gln) c.*2529A>C (n.*2529A>C) c.2710A>C (p.Lys904Gln) c.2761A>C (p.Lys921Gln) n.482A>C c.2767A>C (p.Lys923Gln) n.2925A>C n.419A>C c.*292A>C (n.*292A>C) c.2587A>C (p.Lys863Gln) c.2632A>C (p.Lys878Gln) c.66A>C | |
5 | g.78039085T= | CA1557269143 | AP3B1 | c.2620A= (p.Lys874=) n.567A= c.2660A= (n.2660A=) c.1966A= (p.Lys656=) c.*2529A= (n.*2529A=) c.2710A= (p.Lys904=) c.2761A= (p.Lys921=) n.482A= c.2767A= (p.Lys923=) n.2925A= n.419A= c.*292A= (n.*292A=) c.2587A= (p.Lys863=) c.2632A= (p.Lys878=) c.66A= | |
5 | g.78039086T>A | CA360331928 | AP3B1 | c.2619A>T (p.Lys873Asn) n.566A>T c.2659A>T (n.2659A>T) c.1965A>T (p.Lys655Asn) c.*2528A>T (n.*2528A>T) c.2709A>T (p.Lys903Asn) c.2760A>T (p.Lys920Asn) n.481A>T c.2766A>T (p.Lys922Asn) n.2924A>T n.418A>T c.*291A>T (n.*291A>T) c.2586A>T (p.Lys862Asn) c.2631A>T (p.Lys877Asn) c.65A>T | |
5 | g.78039086T>C | CA445400151 | AP3B1 | c.2619A>G (p.Lys873=) n.566A>G c.2659A>G (n.2659A>G) c.1965A>G (p.Lys655=) c.*2528A>G (n.*2528A>G) c.2709A>G (p.Lys903=) c.2760A>G (p.Lys920=) n.481A>G c.2766A>G (p.Lys922=) n.2924A>G n.418A>G c.*291A>G (n.*291A>G) c.2586A>G (p.Lys862=) c.2631A>G (p.Lys877=) c.65A>G | |
5 | g.78039086T>G | CA360331929 | AP3B1 | c.2619A>C (p.Lys873Asn) n.566A>C c.2659A>C (n.2659A>C) c.1965A>C (p.Lys655Asn) c.*2528A>C (n.*2528A>C) c.2709A>C (p.Lys903Asn) c.2760A>C (p.Lys920Asn) n.481A>C c.2766A>C (p.Lys922Asn) n.2924A>C n.418A>C c.*291A>C (n.*291A>C) c.2586A>C (p.Lys862Asn) c.2631A>C (p.Lys877Asn) c.65A>C | |
5 | g.78039087T>A | CA360331930 | AP3B1 | c.2618A>T (p.Lys873Ile) n.565A>T c.2658A>T (n.2658A>T) c.1964A>T (p.Lys655Ile) c.*2527A>T (n.*2527A>T) c.2708A>T (p.Lys903Ile) c.2759A>T (p.Lys920Ile) n.480A>T c.2765A>T (p.Lys922Ile) n.2923A>T n.417A>T c.*290A>T (n.*290A>T) c.2585A>T (p.Lys862Ile) c.2630A>T (p.Lys877Ile) c.64A>T | |
5 | g.78039087T>C | CA360331931 | AP3B1 | c.2618A>G (p.Lys873Arg) n.565A>G c.2658A>G (n.2658A>G) c.1964A>G (p.Lys655Arg) c.*2527A>G (n.*2527A>G) c.2708A>G (p.Lys903Arg) c.2759A>G (p.Lys920Arg) n.480A>G c.2765A>G (p.Lys922Arg) n.2923A>G n.417A>G c.*290A>G (n.*290A>G) c.2585A>G (p.Lys862Arg) c.2630A>G (p.Lys877Arg) c.64A>G | ClinVar dbSNP |
5 | g.78039087T>G | CA360331932 | AP3B1 | c.2618A>C (p.Lys873Thr) n.565A>C c.2658A>C (n.2658A>C) c.1964A>C (p.Lys655Thr) c.*2527A>C (n.*2527A>C) c.2708A>C (p.Lys903Thr) c.2759A>C (p.Lys920Thr) n.480A>C c.2765A>C (p.Lys922Thr) n.2923A>C n.417A>C c.*290A>C (n.*290A>C) c.2585A>C (p.Lys862Thr) c.2630A>C (p.Lys877Thr) c.64A>C | |
5 | g.78039087T= | CA1557269145 | AP3B1 | c.2618A= (p.Lys873=) n.565A= c.2658A= (n.2658A=) c.1964A= (p.Lys655=) c.*2527A= (n.*2527A=) c.2708A= (p.Lys903=) c.2759A= (p.Lys920=) n.480A= c.2765A= (p.Lys922=) n.2923A= n.417A= c.*290A= (n.*290A=) c.2585A= (p.Lys862=) c.2630A= (p.Lys877=) c.64A= | |
5 | g.78039088T>A | CA360331933 | AP3B1 | c.2617A>T (p.Lys873Ter) n.564A>T c.2657A>T (n.2657A>T) c.1963A>T (p.Lys655Ter) c.*2526A>T (n.*2526A>T) c.2707A>T (p.Lys903Ter) c.2758A>T (p.Lys920Ter) n.479A>T c.2764A>T (p.Lys922Ter) n.2922A>T n.416A>T c.*289A>T (n.*289A>T) c.2584A>T (p.Lys862Ter) c.2629A>T (p.Lys877Ter) c.63A>T | gnomAD v4 |
5 | g.78039088T>C | CA3316690 | AP3B1 | c.2617A>G (p.Lys873Glu) n.564A>G c.2657A>G (n.2657A>G) c.1963A>G (p.Lys655Glu) c.*2526A>G (n.*2526A>G) c.2707A>G (p.Lys903Glu) c.2758A>G (p.Lys920Glu) n.479A>G c.2764A>G (p.Lys922Glu) n.2922A>G n.416A>G c.*289A>G (n.*289A>G) c.2584A>G (p.Lys862Glu) c.2629A>G (p.Lys877Glu) c.63A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039088T>G | CA360331934 | AP3B1 | c.2617A>C (p.Lys873Gln) n.564A>C c.2657A>C (n.2657A>C) c.1963A>C (p.Lys655Gln) c.*2526A>C (n.*2526A>C) c.2707A>C (p.Lys903Gln) c.2758A>C (p.Lys920Gln) n.479A>C c.2764A>C (p.Lys922Gln) n.2922A>C n.416A>C c.*289A>C (n.*289A>C) c.2584A>C (p.Lys862Gln) c.2629A>C (p.Lys877Gln) c.63A>C | |
5 | g.78039088T= | CA1557269150 | AP3B1 | c.2617A= (p.Lys873=) n.564A= c.2657A= (n.2657A=) c.1963A= (p.Lys655=) c.*2526A= (n.*2526A=) c.2707A= (p.Lys903=) c.2758A= (p.Lys920=) n.479A= c.2764A= (p.Lys922=) n.2922A= n.416A= c.*289A= (n.*289A=) c.2584A= (p.Lys862=) c.2629A= (p.Lys877=) c.63A= | |
5 | g.78039089T>A | CA360331935 | AP3B1 | c.2616A>T (p.Glu872Asp) n.563A>T c.2656A>T (n.2656A>T) c.1962A>T (p.Glu654Asp) c.*2525A>T (n.*2525A>T) c.2706A>T (p.Glu902Asp) c.2757A>T (p.Glu919Asp) n.478A>T c.2763A>T (p.Glu921Asp) n.2921A>T n.415A>T c.*288A>T (n.*288A>T) c.2583A>T (p.Glu861Asp) c.2628A>T (p.Glu876Asp) c.62A>T | |
5 | g.78039089T>C | CA445400152 | AP3B1 | c.2616A>G (p.Glu872=) n.563A>G c.2656A>G (n.2656A>G) c.1962A>G (p.Glu654=) c.*2525A>G (n.*2525A>G) c.2706A>G (p.Glu902=) c.2757A>G (p.Glu919=) n.478A>G c.2763A>G (p.Glu921=) n.2921A>G n.415A>G c.*288A>G (n.*288A>G) c.2583A>G (p.Glu861=) c.2628A>G (p.Glu876=) c.62A>G | |
5 | g.78039089T>G | CA360331936 | AP3B1 | c.2616A>C (p.Glu872Asp) n.563A>C c.2656A>C (n.2656A>C) c.1962A>C (p.Glu654Asp) c.*2525A>C (n.*2525A>C) c.2706A>C (p.Glu902Asp) c.2757A>C (p.Glu919Asp) n.478A>C c.2763A>C (p.Glu921Asp) n.2921A>C n.415A>C c.*288A>C (n.*288A>C) c.2583A>C (p.Glu861Asp) c.2628A>C (p.Glu876Asp) c.62A>C | |
5 | g.78039090T>A | CA360331937 | AP3B1 | c.2615A>T (p.Glu872Val) n.562A>T c.2655A>T (n.2655A>T) c.1961A>T (p.Glu654Val) c.*2524A>T (n.*2524A>T) c.2705A>T (p.Glu902Val) c.2756A>T (p.Glu919Val) n.477A>T c.2762A>T (p.Glu921Val) n.2920A>T n.414A>T c.*287A>T (n.*287A>T) c.2582A>T (p.Glu861Val) c.2627A>T (p.Glu876Val) c.61A>T | |
5 | g.78039090T>C | CA3316691 | AP3B1 | c.2615A>G (p.Glu872Gly) n.562A>G c.2655A>G (n.2655A>G) c.1961A>G (p.Glu654Gly) c.*2524A>G (n.*2524A>G) c.2705A>G (p.Glu902Gly) c.2756A>G (p.Glu919Gly) n.477A>G c.2762A>G (p.Glu921Gly) n.2920A>G n.414A>G c.*287A>G (n.*287A>G) c.2582A>G (p.Glu861Gly) c.2627A>G (p.Glu876Gly) c.61A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.78039090T>G | CA360331938 | AP3B1 | c.2615A>C (p.Glu872Ala) n.562A>C c.2655A>C (n.2655A>C) c.1961A>C (p.Glu654Ala) c.*2524A>C (n.*2524A>C) c.2705A>C (p.Glu902Ala) c.2756A>C (p.Glu919Ala) n.477A>C c.2762A>C (p.Glu921Ala) n.2920A>C n.414A>C c.*287A>C (n.*287A>C) c.2582A>C (p.Glu861Ala) c.2627A>C (p.Glu876Ala) c.61A>C | gnomAD v4 |
5 | g.78039090T= | CA1557269156 | AP3B1 | c.2615A= (p.Glu872=) n.562A= c.2655A= (n.2655A=) c.1961A= (p.Glu654=) c.*2524A= (n.*2524A=) c.2705A= (p.Glu902=) c.2756A= (p.Glu919=) n.477A= c.2762A= (p.Glu921=) n.2920A= n.414A= c.*287A= (n.*287A=) c.2582A= (p.Glu861=) c.2627A= (p.Glu876=) c.61A= | |
5 | g.78039090_78039094delinsTCCCC | CA1557269159 | AP3B1 | c.2611_2615delinsGGGGA (p.Gly871=) n.558_562delinsGGGGA c.2651_2655delinsGGGGA (n.2651_2655delinsGGGGA) c.1957_1961delinsGGGGA (p.Gly653=) c.*2520_*2524delinsGGGGA (n.*2520_*2524delinsGGGGA) c.2701_2705delinsGGGGA (p.Gly901=) c.2752_2756delinsGGGGA (p.Gly918=) n.473_477delinsGGGGA c.2758_2762delinsGGGGA (p.Gly920=) n.2916_2920delinsGGGGA n.410_414delinsGGGGA c.*283_*287delinsGGGGA (n.*283_*287delinsGGGGA) c.2578_2582delinsGGGGA (p.Gly860=) c.2623_2627delinsGGGGA (p.Gly875=) c.57_61delinsGGGGA | |
5 | g.78039091C>A | CA360331939 | AP3B1 | c.2614G>T (p.Glu872Ter) n.561G>T c.2654G>T (n.2654G>T) c.1960G>T (p.Glu654Ter) c.*2523G>T (n.*2523G>T) c.2704G>T (p.Glu902Ter) c.2755G>T (p.Glu919Ter) n.476G>T c.2761G>T (p.Glu921Ter) n.2919G>T n.413G>T c.*286G>T (n.*286G>T) c.2581G>T (p.Glu861Ter) c.2626G>T (p.Glu876Ter) c.60G>T | |
5 | g.78039091C= | CA1557269162 | AP3B1 | c.2614G= (p.Glu872=) n.561G= c.2654G= (n.2654G=) c.1960G= (p.Glu654=) c.*2523G= (n.*2523G=) c.2704G= (p.Glu902=) c.2755G= (p.Glu919=) n.476G= c.2761G= (p.Glu921=) n.2919G= n.413G= c.*286G= (n.*286G=) c.2581G= (p.Glu861=) c.2626G= (p.Glu876=) c.60G= | |
5 | g.78039091C>G | CA360331940 | AP3B1 | c.2614G>C (p.Glu872Gln) n.561G>C c.2654G>C (n.2654G>C) c.1960G>C (p.Glu654Gln) c.*2523G>C (n.*2523G>C) c.2704G>C (p.Glu902Gln) c.2755G>C (p.Glu919Gln) n.476G>C c.2761G>C (p.Glu921Gln) n.2919G>C n.413G>C c.*286G>C (n.*286G>C) c.2581G>C (p.Glu861Gln) c.2626G>C (p.Glu876Gln) c.60G>C | |
5 | g.78039091C>T | CA360331941 | AP3B1 | c.2614G>A (p.Glu872Lys) n.561G>A c.2654G>A (n.2654G>A) c.1960G>A (p.Glu654Lys) c.*2523G>A (n.*2523G>A) c.2704G>A (p.Glu902Lys) c.2755G>A (p.Glu919Lys) n.476G>A c.2761G>A (p.Glu921Lys) n.2919G>A n.413G>A c.*286G>A (n.*286G>A) c.2581G>A (p.Glu861Lys) c.2626G>A (p.Glu876Lys) c.60G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039091_78039094del | CA560770251 | AP3B1 | c.2611_2614del (p.Gly871LysfsTer6) n.558_561del c.2651_2654del (n.2651_2654del) c.1957_1960del (p.Gly653LysfsTer6) c.*2520_*2523del (n.*2520_*2523del) c.2701_2704del (p.Gly901LysfsTer6) c.2752_2755del (p.Gly918LysfsTer6) n.473_476del c.2758_2761del (p.Gly920LysfsTer6) n.2916_2919del n.410_413del c.*283_*286del (n.*283_*286del) c.2578_2581del (p.Gly860LysfsTer6) c.2623_2626del (p.Gly875LysfsTer6) c.57_60del | dbSNP gnomAD v2 gnomAD v4 |
5 | g.78039091_78039102del | CA2767112120 | AP3B1 | c.2603_2614del (p.Ile868_Glu872delinsLys) n.550_561del c.2643_2654del (n.2643_2654del) c.1949_1960del (p.Ile650_Glu654delinsLys) c.*2512_*2523del (n.*2512_*2523del) c.2693_2704del (p.Ile898_Glu902delinsLys) c.2744_2755del (p.Ile915_Glu919delinsLys) n.465_476del c.2750_2761del (p.Ile917_Glu921delinsLys) n.2908_2919del n.402_413del c.*275_*286del (n.*275_*286del) c.2570_2581del (p.Ile857_Glu861delinsLys) c.2615_2626del (p.Ile872_Glu876delinsLys) c.49_60del | |
5 | g.78039092C>A | CA445400156 | AP3B1 | c.2613G>T (p.Gly871=) n.560G>T c.2653G>T (n.2653G>T) c.1959G>T (p.Gly653=) c.*2522G>T (n.*2522G>T) c.2703G>T (p.Gly901=) c.2754G>T (p.Gly918=) n.475G>T c.2760G>T (p.Gly920=) n.2918G>T n.412G>T c.*285G>T (n.*285G>T) c.2580G>T (p.Gly860=) c.2625G>T (p.Gly875=) c.59G>T | |
5 | g.78039092C>G | CA445400158 | AP3B1 | c.2613G>C (p.Gly871=) n.560G>C c.2653G>C (n.2653G>C) c.1959G>C (p.Gly653=) c.*2522G>C (n.*2522G>C) c.2703G>C (p.Gly901=) c.2754G>C (p.Gly918=) n.475G>C c.2760G>C (p.Gly920=) n.2918G>C n.412G>C c.*285G>C (n.*285G>C) c.2580G>C (p.Gly860=) c.2625G>C (p.Gly875=) c.59G>C | |
5 | g.78039092C>T | CA445400157 | AP3B1 | c.2613G>A (p.Gly871=) n.560G>A c.2653G>A (n.2653G>A) c.1959G>A (p.Gly653=) c.*2522G>A (n.*2522G>A) c.2703G>A (p.Gly901=) c.2754G>A (p.Gly918=) n.475G>A c.2760G>A (p.Gly920=) n.2918G>A n.412G>A c.*285G>A (n.*285G>A) c.2580G>A (p.Gly860=) c.2625G>A (p.Gly875=) c.59G>A | gnomAD v3 gnomAD v4 COSMIC |
5 | g.78039093C>A | CA360331942 | AP3B1 | c.2612G>T (p.Gly871Val) n.559G>T c.2652G>T (n.2652G>T) c.1958G>T (p.Gly653Val) c.*2521G>T (n.*2521G>T) c.2702G>T (p.Gly901Val) c.2753G>T (p.Gly918Val) n.474G>T c.2759G>T (p.Gly920Val) n.2917G>T n.411G>T c.*284G>T (n.*284G>T) c.2579G>T (p.Gly860Val) c.2624G>T (p.Gly875Val) c.58G>T | |
5 | g.78039093C>G | CA360331943 | AP3B1 | c.2612G>C (p.Gly871Ala) n.559G>C c.2652G>C (n.2652G>C) c.1958G>C (p.Gly653Ala) c.*2521G>C (n.*2521G>C) c.2702G>C (p.Gly901Ala) c.2753G>C (p.Gly918Ala) n.474G>C c.2759G>C (p.Gly920Ala) n.2917G>C n.411G>C c.*284G>C (n.*284G>C) c.2579G>C (p.Gly860Ala) c.2624G>C (p.Gly875Ala) c.58G>C | |
5 | g.78039093C>T | CA360331944 | AP3B1 | c.2612G>A (p.Gly871Glu) n.559G>A c.2652G>A (n.2652G>A) c.1958G>A (p.Gly653Glu) c.*2521G>A (n.*2521G>A) c.2702G>A (p.Gly901Glu) c.2753G>A (p.Gly918Glu) n.474G>A c.2759G>A (p.Gly920Glu) n.2917G>A n.411G>A c.*284G>A (n.*284G>A) c.2579G>A (p.Gly860Glu) c.2624G>A (p.Gly875Glu) c.58G>A | ClinVar gnomAD v4 COSMIC |
5 | g.78039094C>A | CA3316692 | AP3B1 | c.2611G>T (p.Gly871Trp) n.558G>T c.2651G>T (n.2651G>T) c.1957G>T (p.Gly653Trp) c.*2520G>T (n.*2520G>T) c.2701G>T (p.Gly901Trp) c.2752G>T (p.Gly918Trp) n.473G>T c.2758G>T (p.Gly920Trp) n.2916G>T n.410G>T c.*283G>T (n.*283G>T) c.2578G>T (p.Gly860Trp) c.2623G>T (p.Gly875Trp) c.57G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.78039094C= | CA1557269167 | AP3B1 | c.2611G= (p.Gly871=) n.558G= c.2651G= (n.2651G=) c.1957G= (p.Gly653=) c.*2520G= (n.*2520G=) c.2701G= (p.Gly901=) c.2752G= (p.Gly918=) n.473G= c.2758G= (p.Gly920=) n.2916G= n.410G= c.*283G= (n.*283G=) c.2578G= (p.Gly860=) c.2623G= (p.Gly875=) c.57G= | |
5 | g.78039094C>G | CA360331946 | AP3B1 | c.2611G>C (p.Gly871Arg) n.558G>C c.2651G>C (n.2651G>C) c.1957G>C (p.Gly653Arg) c.*2520G>C (n.*2520G>C) c.2701G>C (p.Gly901Arg) c.2752G>C (p.Gly918Arg) n.473G>C c.2758G>C (p.Gly920Arg) n.2916G>C n.410G>C c.*283G>C (n.*283G>C) c.2578G>C (p.Gly860Arg) c.2623G>C (p.Gly875Arg) c.57G>C | |
5 | g.78039094C>T | CA360331945 | AP3B1 | c.2611G>A (p.Gly871Arg) n.558G>A c.2651G>A (n.2651G>A) c.1957G>A (p.Gly653Arg) c.*2520G>A (n.*2520G>A) c.2701G>A (p.Gly901Arg) c.2752G>A (p.Gly918Arg) n.473G>A c.2758G>A (p.Gly920Arg) n.2916G>A n.410G>A c.*283G>A (n.*283G>A) c.2578G>A (p.Gly860Arg) c.2623G>A (p.Gly875Arg) c.57G>A | gnomAD v4 |
5 | g.78039095del | CA2573139961 | AP3B1 | c.2610del (p.Ile870MetfsTer8) n.557del c.2650del (n.2650del) c.1956del (p.Ile652MetfsTer8) c.*2519del (n.*2519del) c.2700del (p.Ile900MetfsTer8) c.2751del (p.Ile917MetfsTer8) n.472del c.2757del (p.Ile919MetfsTer8) n.2915del n.409del c.*282del (n.*282del) c.2577del (p.Ile859MetfsTer8) c.2622del (p.Ile874MetfsTer8) c.56del | ClinVar dbSNP gnomAD v4 |
5 | g.78039095T>A | CA445400159 | AP3B1 | c.2610A>T (p.Ile870=) n.557A>T c.2650A>T (n.2650A>T) c.1956A>T (p.Ile652=) c.*2519A>T (n.*2519A>T) c.2700A>T (p.Ile900=) c.2751A>T (p.Ile917=) n.472A>T c.2757A>T (p.Ile919=) n.2915A>T n.409A>T c.*282A>T (n.*282A>T) c.2577A>T (p.Ile859=) c.2622A>T (p.Ile874=) c.56A>T | |
5 | g.78039095T>C | CA3316693 | AP3B1 | c.2610A>G (p.Ile870Met) n.557A>G c.2650A>G (n.2650A>G) c.1956A>G (p.Ile652Met) c.*2519A>G (n.*2519A>G) c.2700A>G (p.Ile900Met) c.2751A>G (p.Ile917Met) n.472A>G c.2757A>G (p.Ile919Met) n.2915A>G n.409A>G c.*282A>G (n.*282A>G) c.2577A>G (p.Ile859Met) c.2622A>G (p.Ile874Met) c.56A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039095T>G | CA445400160 | AP3B1 | c.2610A>C (p.Ile870=) n.557A>C c.2650A>C (n.2650A>C) c.1956A>C (p.Ile652=) c.*2519A>C (n.*2519A>C) c.2700A>C (p.Ile900=) c.2751A>C (p.Ile917=) n.472A>C c.2757A>C (p.Ile919=) n.2915A>C n.409A>C c.*282A>C (n.*282A>C) c.2577A>C (p.Ile859=) c.2622A>C (p.Ile874=) c.56A>C | |
5 | g.78039095T= | CA1557269172 | AP3B1 | c.2610A= (p.Ile870=) n.557A= c.2650A= (n.2650A=) c.1956A= (p.Ile652=) c.*2519A= (n.*2519A=) c.2700A= (p.Ile900=) c.2751A= (p.Ile917=) n.472A= c.2757A= (p.Ile919=) n.2915A= n.409A= c.*282A= (n.*282A=) c.2577A= (p.Ile859=) c.2622A= (p.Ile874=) c.56A= | |
5 | g.78039096A>C | CA360331947 | AP3B1 | c.2609T>G (p.Ile870Arg) n.556T>G c.2649T>G (n.2649T>G) c.1955T>G (p.Ile652Arg) c.*2518T>G (n.*2518T>G) c.2699T>G (p.Ile900Arg) c.2750T>G (p.Ile917Arg) n.471T>G c.2756T>G (p.Ile919Arg) n.2914T>G n.408T>G c.*281T>G (n.*281T>G) c.2576T>G (p.Ile859Arg) c.2621T>G (p.Ile874Arg) c.55T>G | |
5 | g.78039096A>G | CA360331948 | AP3B1 | c.2609T>C (p.Ile870Thr) n.556T>C c.2649T>C (n.2649T>C) c.1955T>C (p.Ile652Thr) c.*2518T>C (n.*2518T>C) c.2699T>C (p.Ile900Thr) c.2750T>C (p.Ile917Thr) n.471T>C c.2756T>C (p.Ile919Thr) n.2914T>C n.408T>C c.*281T>C (n.*281T>C) c.2576T>C (p.Ile859Thr) c.2621T>C (p.Ile874Thr) c.55T>C | |
5 | g.78039096A>T | CA360331949 | AP3B1 | c.2609T>A (p.Ile870Lys) n.556T>A c.2649T>A (n.2649T>A) c.1955T>A (p.Ile652Lys) c.*2518T>A (n.*2518T>A) c.2699T>A (p.Ile900Lys) c.2750T>A (p.Ile917Lys) n.471T>A c.2756T>A (p.Ile919Lys) n.2914T>A n.408T>A c.*281T>A (n.*281T>A) c.2576T>A (p.Ile859Lys) c.2621T>A (p.Ile874Lys) c.55T>A | gnomAD v4 |
5 | g.78039097T>A | CA360331950 | AP3B1 | c.2608A>T (p.Ile870Leu) n.555A>T c.2648A>T (n.2648A>T) c.1954A>T (p.Ile652Leu) c.*2517A>T (n.*2517A>T) c.2698A>T (p.Ile900Leu) c.2749A>T (p.Ile917Leu) n.470A>T c.2755A>T (p.Ile919Leu) n.2913A>T n.407A>T c.*280A>T (n.*280A>T) c.2575A>T (p.Ile859Leu) c.2620A>T (p.Ile874Leu) c.54A>T | |
5 | g.78039097T>C | CA360331951 | AP3B1 | c.2608A>G (p.Ile870Val) n.555A>G c.2648A>G (n.2648A>G) c.1954A>G (p.Ile652Val) c.*2517A>G (n.*2517A>G) c.2698A>G (p.Ile900Val) c.2749A>G (p.Ile917Val) n.470A>G c.2755A>G (p.Ile919Val) n.2913A>G n.407A>G c.*280A>G (n.*280A>G) c.2575A>G (p.Ile859Val) c.2620A>G (p.Ile874Val) c.54A>G | gnomAD v4 |
5 | g.78039097T>G | CA360331952 | AP3B1 | c.2608A>C (p.Ile870Leu) n.555A>C c.2648A>C (n.2648A>C) c.1954A>C (p.Ile652Leu) c.*2517A>C (n.*2517A>C) c.2698A>C (p.Ile900Leu) c.2749A>C (p.Ile917Leu) n.470A>C c.2755A>C (p.Ile919Leu) n.2913A>C n.407A>C c.*280A>C (n.*280A>C) c.2575A>C (p.Ile859Leu) c.2620A>C (p.Ile874Leu) c.54A>C | |
5 | g.78039098G>A | CA445400161 | AP3B1 | c.2607C>T (p.His869=) n.554C>T c.2647C>T (n.2647C>T) c.1953C>T (p.His651=) c.*2516C>T (n.*2516C>T) c.2697C>T (p.His899=) c.2748C>T (p.His916=) n.469C>T c.2754C>T (p.His918=) n.2912C>T n.406C>T c.*279C>T (n.*279C>T) c.2574C>T (p.His858=) c.2619C>T (p.His873=) c.53C>T | gnomAD v4 |
5 | g.78039098G>C | CA360331953 | AP3B1 | c.2607C>G (p.His869Gln) n.554C>G c.2647C>G (n.2647C>G) c.1953C>G (p.His651Gln) c.*2516C>G (n.*2516C>G) c.2697C>G (p.His899Gln) c.2748C>G (p.His916Gln) n.469C>G c.2754C>G (p.His918Gln) n.2912C>G n.406C>G c.*279C>G (n.*279C>G) c.2574C>G (p.His858Gln) c.2619C>G (p.His873Gln) c.53C>G | |
5 | g.78039098G= | CA1557269175 | AP3B1 | c.2607C= (p.His869=) n.554C= c.2647C= (n.2647C=) c.1953C= (p.His651=) c.*2516C= (n.*2516C=) c.2697C= (p.His899=) c.2748C= (p.His916=) n.469C= c.2754C= (p.His918=) n.2912C= n.406C= c.*279C= (n.*279C=) c.2574C= (p.His858=) c.2619C= (p.His873=) c.53C= | |
5 | g.78039098G>T | CA360331954 | AP3B1 | c.2607C>A (p.His869Gln) n.554C>A c.2647C>A (n.2647C>A) c.1953C>A (p.His651Gln) c.*2516C>A (n.*2516C>A) c.2697C>A (p.His899Gln) c.2748C>A (p.His916Gln) n.469C>A c.2754C>A (p.His918Gln) n.2912C>A n.406C>A c.*279C>A (n.*279C>A) c.2574C>A (p.His858Gln) c.2619C>A (p.His873Gln) c.53C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.78039099T>A | CA360331955 | AP3B1 | c.2606A>T (p.His869Leu) n.553A>T c.2646A>T (n.2646A>T) c.1952A>T (p.His651Leu) c.*2515A>T (n.*2515A>T) c.2696A>T (p.His899Leu) c.2747A>T (p.His916Leu) n.468A>T c.2753A>T (p.His918Leu) n.2911A>T n.405A>T c.*278A>T (n.*278A>T) c.2573A>T (p.His858Leu) c.2618A>T (p.His873Leu) c.52A>T | |
5 | g.78039099T>C | CA360331956 | AP3B1 | c.2606A>G (p.His869Arg) n.553A>G c.2646A>G (n.2646A>G) c.1952A>G (p.His651Arg) c.*2515A>G (n.*2515A>G) c.2696A>G (p.His899Arg) c.2747A>G (p.His916Arg) n.468A>G c.2753A>G (p.His918Arg) n.2911A>G n.405A>G c.*278A>G (n.*278A>G) c.2573A>G (p.His858Arg) c.2618A>G (p.His873Arg) c.52A>G | |
5 | g.78039099T>G | CA360331957 | AP3B1 | c.2606A>C (p.His869Pro) n.553A>C c.2646A>C (n.2646A>C) c.1952A>C (p.His651Pro) c.*2515A>C (n.*2515A>C) c.2696A>C (p.His899Pro) c.2747A>C (p.His916Pro) n.468A>C c.2753A>C (p.His918Pro) n.2911A>C n.405A>C c.*278A>C (n.*278A>C) c.2573A>C (p.His858Pro) c.2618A>C (p.His873Pro) c.52A>C | |
5 | g.78039100G>A | CA360331960 | AP3B1 | c.2605C>T (p.His869Tyr) n.552C>T c.2645C>T (n.2645C>T) c.1951C>T (p.His651Tyr) c.*2514C>T (n.*2514C>T) c.2695C>T (p.His899Tyr) c.2746C>T (p.His916Tyr) n.467C>T c.2752C>T (p.His918Tyr) n.2910C>T n.404C>T c.*277C>T (n.*277C>T) c.2572C>T (p.His858Tyr) c.2617C>T (p.His873Tyr) c.51C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039100G>C | CA360331959 | AP3B1 | c.2605C>G (p.His869Asp) n.552C>G c.2645C>G (n.2645C>G) c.1951C>G (p.His651Asp) c.*2514C>G (n.*2514C>G) c.2695C>G (p.His899Asp) c.2746C>G (p.His916Asp) n.467C>G c.2752C>G (p.His918Asp) n.2910C>G n.404C>G c.*277C>G (n.*277C>G) c.2572C>G (p.His858Asp) c.2617C>G (p.His873Asp) c.51C>G | |
5 | g.78039100G= | CA1557269179 | AP3B1 | c.2605C= (p.His869=) n.552C= c.2645C= (n.2645C=) c.1951C= (p.His651=) c.*2514C= (n.*2514C=) c.2695C= (p.His899=) c.2746C= (p.His916=) n.467C= c.2752C= (p.His918=) n.2910C= n.404C= c.*277C= (n.*277C=) c.2572C= (p.His858=) c.2617C= (p.His873=) c.51C= | |
5 | g.78039100G>T | CA360331958 | AP3B1 | c.2605C>A (p.His869Asn) n.552C>A c.2645C>A (n.2645C>A) c.1951C>A (p.His651Asn) c.*2514C>A (n.*2514C>A) c.2695C>A (p.His899Asn) c.2746C>A (p.His916Asn) n.467C>A c.2752C>A (p.His918Asn) n.2910C>A n.404C>A c.*277C>A (n.*277C>A) c.2572C>A (p.His858Asn) c.2617C>A (p.His873Asn) c.51C>A | gnomAD v3 gnomAD v4 |
5 | g.78039100_78039101del | CA2674351446 | AP3B1 | c.2604_2605del (p.Ile870ArgfsTer15) n.551_552del c.2644_2645del (n.2644_2645del) c.1950_1951del (p.Ile652ArgfsTer15) c.*2513_*2514del (n.*2513_*2514del) c.2694_2695del (p.Ile900ArgfsTer15) c.2745_2746del (p.Ile917ArgfsTer15) n.466_467del c.2751_2752del (p.Ile919ArgfsTer15) n.2909_2910del n.403_404del c.*276_*277del (n.*276_*277del) c.2571_2572del (p.Ile859ArgfsTer15) c.2616_2617del (p.Ile874ArgfsTer15) c.50_51del | gnomAD v4 |
5 | g.78039101G>A | CA445400164 | AP3B1 | c.2604C>T (p.Ile868=) n.551C>T c.2644C>T (n.2644C>T) c.1950C>T (p.Ile650=) c.*2513C>T (n.*2513C>T) c.2694C>T (p.Ile898=) c.2745C>T (p.Ile915=) n.466C>T c.2751C>T (p.Ile917=) n.2909C>T n.403C>T c.*276C>T (n.*276C>T) c.2571C>T (p.Ile857=) c.2616C>T (p.Ile872=) c.50C>T | |
5 | g.78039101G>C | CA360331961 | AP3B1 | c.2604C>G (p.Ile868Met) n.551C>G c.2644C>G (n.2644C>G) c.1950C>G (p.Ile650Met) c.*2513C>G (n.*2513C>G) c.2694C>G (p.Ile898Met) c.2745C>G (p.Ile915Met) n.466C>G c.2751C>G (p.Ile917Met) n.2909C>G n.403C>G c.*276C>G (n.*276C>G) c.2571C>G (p.Ile857Met) c.2616C>G (p.Ile872Met) c.50C>G | |
5 | g.78039101G>T | CA445400163 | AP3B1 | c.2604C>A (p.Ile868=) n.551C>A c.2644C>A (n.2644C>A) c.1950C>A (p.Ile650=) c.*2513C>A (n.*2513C>A) c.2694C>A (p.Ile898=) c.2745C>A (p.Ile915=) n.466C>A c.2751C>A (p.Ile917=) n.2909C>A n.403C>A c.*276C>A (n.*276C>A) c.2571C>A (p.Ile857=) c.2616C>A (p.Ile872=) c.50C>A | gnomAD v4 |
5 | g.78039102A>C | CA360331964 | AP3B1 | c.2603T>G (p.Ile868Ser) n.550T>G c.2643T>G (n.2643T>G) c.1949T>G (p.Ile650Ser) c.*2512T>G (n.*2512T>G) c.2693T>G (p.Ile898Ser) c.2744T>G (p.Ile915Ser) n.465T>G c.2750T>G (p.Ile917Ser) n.2908T>G n.402T>G c.*275T>G (n.*275T>G) c.2570T>G (p.Ile857Ser) c.2615T>G (p.Ile872Ser) c.49T>G | |
5 | g.78039102A>G | CA360331962 | AP3B1 | c.2603T>C (p.Ile868Thr) n.550T>C c.2643T>C (n.2643T>C) c.1949T>C (p.Ile650Thr) c.*2512T>C (n.*2512T>C) c.2693T>C (p.Ile898Thr) c.2744T>C (p.Ile915Thr) n.465T>C c.2750T>C (p.Ile917Thr) n.2908T>C n.402T>C c.*275T>C (n.*275T>C) c.2570T>C (p.Ile857Thr) c.2615T>C (p.Ile872Thr) c.49T>C | |
5 | g.78039102A>T | CA360331963 | AP3B1 | c.2603T>A (p.Ile868Asn) n.550T>A c.2643T>A (n.2643T>A) c.1949T>A (p.Ile650Asn) c.*2512T>A (n.*2512T>A) c.2693T>A (p.Ile898Asn) c.2744T>A (p.Ile915Asn) n.465T>A c.2750T>A (p.Ile917Asn) n.2908T>A n.402T>A c.*275T>A (n.*275T>A) c.2570T>A (p.Ile857Asn) c.2615T>A (p.Ile872Asn) c.49T>A | |
5 | g.78039103T>A | CA360331965 | AP3B1 | c.2602A>T (p.Ile868Phe) n.549A>T c.2642A>T (n.2642A>T) c.1948A>T (p.Ile650Phe) c.*2511A>T (n.*2511A>T) c.2692A>T (p.Ile898Phe) c.2743A>T (p.Ile915Phe) n.464A>T c.2749A>T (p.Ile917Phe) n.2907A>T n.401A>T c.*274A>T (n.*274A>T) c.2569A>T (p.Ile857Phe) c.2614A>T (p.Ile872Phe) c.48A>T | |
5 | g.78039103T>C | CA360331966 | AP3B1 | c.2602A>G (p.Ile868Val) n.549A>G c.2642A>G (n.2642A>G) c.1948A>G (p.Ile650Val) c.*2511A>G (n.*2511A>G) c.2692A>G (p.Ile898Val) c.2743A>G (p.Ile915Val) n.464A>G c.2749A>G (p.Ile917Val) n.2907A>G n.401A>G c.*274A>G (n.*274A>G) c.2569A>G (p.Ile857Val) c.2614A>G (p.Ile872Val) c.48A>G | |
5 | g.78039103T>G | CA360331967 | AP3B1 | c.2602A>C (p.Ile868Leu) n.549A>C c.2642A>C (n.2642A>C) c.1948A>C (p.Ile650Leu) c.*2511A>C (n.*2511A>C) c.2692A>C (p.Ile898Leu) c.2743A>C (p.Ile915Leu) n.464A>C c.2749A>C (p.Ile917Leu) n.2907A>C n.401A>C c.*274A>C (n.*274A>C) c.2569A>C (p.Ile857Leu) c.2614A>C (p.Ile872Leu) c.48A>C | |
5 | g.78039104A>C | CA360331968 | AP3B1 | c.2601T>G (p.Asn867Lys) n.548T>G c.2641T>G (n.2641T>G) c.1947T>G (p.Asn649Lys) c.*2510T>G (n.*2510T>G) c.2691T>G (p.Asn897Lys) c.2742T>G (p.Asn914Lys) n.463T>G c.2748T>G (p.Asn916Lys) n.2906T>G n.400T>G c.*273T>G (n.*273T>G) c.2568T>G (p.Asn856Lys) c.2613T>G (p.Asn871Lys) c.47T>G | |
5 | g.78039104A>G | CA445400166 | AP3B1 | c.2601T>C (p.Asn867=) n.548T>C c.2641T>C (n.2641T>C) c.1947T>C (p.Asn649=) c.*2510T>C (n.*2510T>C) c.2691T>C (p.Asn897=) c.2742T>C (p.Asn914=) n.463T>C c.2748T>C (p.Asn916=) n.2906T>C n.400T>C c.*273T>C (n.*273T>C) c.2568T>C (p.Asn856=) c.2613T>C (p.Asn871=) c.47T>C | |
5 | g.78039104A>T | CA360331969 | AP3B1 | c.2601T>A (p.Asn867Lys) n.548T>A c.2641T>A (n.2641T>A) c.1947T>A (p.Asn649Lys) c.*2510T>A (n.*2510T>A) c.2691T>A (p.Asn897Lys) c.2742T>A (p.Asn914Lys) n.463T>A c.2748T>A (p.Asn916Lys) n.2906T>A n.400T>A c.*273T>A (n.*273T>A) c.2568T>A (p.Asn856Lys) c.2613T>A (p.Asn871Lys) c.47T>A | |
5 | g.78039105T>A | CA360331970 | AP3B1 | c.2600A>T (p.Asn867Ile) n.547A>T c.2640A>T (n.2640A>T) c.1946A>T (p.Asn649Ile) c.*2509A>T (n.*2509A>T) c.2690A>T (p.Asn897Ile) c.2741A>T (p.Asn914Ile) n.462A>T c.2747A>T (p.Asn916Ile) n.2905A>T n.399A>T c.*272A>T (n.*272A>T) c.2567A>T (p.Asn856Ile) c.2612A>T (p.Asn871Ile) c.46A>T | gnomAD v4 |
5 | g.78039105T>C | CA360331971 | AP3B1 | c.2600A>G (p.Asn867Ser) n.547A>G c.2640A>G (n.2640A>G) c.1946A>G (p.Asn649Ser) c.*2509A>G (n.*2509A>G) c.2690A>G (p.Asn897Ser) c.2741A>G (p.Asn914Ser) n.462A>G c.2747A>G (p.Asn916Ser) n.2905A>G n.399A>G c.*272A>G (n.*272A>G) c.2567A>G (p.Asn856Ser) c.2612A>G (p.Asn871Ser) c.46A>G | |
5 | g.78039105T>G | CA360331972 | AP3B1 | c.2600A>C (p.Asn867Thr) n.547A>C c.2640A>C (n.2640A>C) c.1946A>C (p.Asn649Thr) c.*2509A>C (n.*2509A>C) c.2690A>C (p.Asn897Thr) c.2741A>C (p.Asn914Thr) n.462A>C c.2747A>C (p.Asn916Thr) n.2905A>C n.399A>C c.*272A>C (n.*272A>C) c.2567A>C (p.Asn856Thr) c.2612A>C (p.Asn871Thr) c.46A>C | |
5 | g.78039106T>A | CA360331975 | AP3B1 | c.2599A>T (p.Asn867Tyr) n.546A>T c.2639A>T (n.2639A>T) c.1945A>T (p.Asn649Tyr) c.*2508A>T (n.*2508A>T) c.2689A>T (p.Asn897Tyr) c.2740A>T (p.Asn914Tyr) n.461A>T c.2746A>T (p.Asn916Tyr) n.2904A>T n.398A>T c.*271A>T (n.*271A>T) c.2566A>T (p.Asn856Tyr) c.2611A>T (p.Asn871Tyr) c.45A>T | |
5 | g.78039106T>C | CA360331974 | AP3B1 | c.2599A>G (p.Asn867Asp) n.546A>G c.2639A>G (n.2639A>G) c.1945A>G (p.Asn649Asp) c.*2508A>G (n.*2508A>G) c.2689A>G (p.Asn897Asp) c.2740A>G (p.Asn914Asp) n.461A>G c.2746A>G (p.Asn916Asp) n.2904A>G n.398A>G c.*271A>G (n.*271A>G) c.2566A>G (p.Asn856Asp) c.2611A>G (p.Asn871Asp) c.45A>G | |
5 | g.78039106T>G | CA360331973 | AP3B1 | c.2599A>C (p.Asn867His) n.546A>C c.2639A>C (n.2639A>C) c.1945A>C (p.Asn649His) c.*2508A>C (n.*2508A>C) c.2689A>C (p.Asn897His) c.2740A>C (p.Asn914His) n.461A>C c.2746A>C (p.Asn916His) n.2904A>C n.398A>C c.*271A>C (n.*271A>C) c.2566A>C (p.Asn856His) c.2611A>C (p.Asn871His) c.45A>C | COSMIC |
5 | g.78039107T>A | CA360331976 | AP3B1 | c.2598A>T (p.Glu866Asp) n.545A>T c.2638A>T (n.2638A>T) c.1944A>T (p.Glu648Asp) c.*2507A>T (n.*2507A>T) c.2688A>T (p.Glu896Asp) c.2739A>T (p.Glu913Asp) n.460A>T c.2745A>T (p.Glu915Asp) n.2903A>T n.397A>T c.*270A>T (n.*270A>T) c.2565A>T (p.Glu855Asp) c.2610A>T (p.Glu870Asp) c.44A>T | |
5 | g.78039107T>C | CA445400168 | AP3B1 | c.2598A>G (p.Glu866=) n.545A>G c.2638A>G (n.2638A>G) c.1944A>G (p.Glu648=) c.*2507A>G (n.*2507A>G) c.2688A>G (p.Glu896=) c.2739A>G (p.Glu913=) n.460A>G c.2745A>G (p.Glu915=) n.2903A>G n.397A>G c.*270A>G (n.*270A>G) c.2565A>G (p.Glu855=) c.2610A>G (p.Glu870=) c.44A>G | |
5 | g.78039107T>G | CA360331977 | AP3B1 | c.2598A>C (p.Glu866Asp) n.545A>C c.2638A>C (n.2638A>C) c.1944A>C (p.Glu648Asp) c.*2507A>C (n.*2507A>C) c.2688A>C (p.Glu896Asp) c.2739A>C (p.Glu913Asp) n.460A>C c.2745A>C (p.Glu915Asp) n.2903A>C n.397A>C c.*270A>C (n.*270A>C) c.2565A>C (p.Glu855Asp) c.2610A>C (p.Glu870Asp) c.44A>C | |
5 | g.78039108T>A | CA360331978 | AP3B1 | c.2597A>T (p.Glu866Val) n.544A>T c.2637A>T (n.2637A>T) c.1943A>T (p.Glu648Val) c.*2506A>T (n.*2506A>T) c.2687A>T (p.Glu896Val) c.2738A>T (p.Glu913Val) n.459A>T c.2744A>T (p.Glu915Val) n.2902A>T n.396A>T c.*269A>T (n.*269A>T) c.2564A>T (p.Glu855Val) c.2609A>T (p.Glu870Val) c.43A>T | |
5 | g.78039108T>C | CA360331979 | AP3B1 | c.2597A>G (p.Glu866Gly) n.544A>G c.2637A>G (n.2637A>G) c.1943A>G (p.Glu648Gly) c.*2506A>G (n.*2506A>G) c.2687A>G (p.Glu896Gly) c.2738A>G (p.Glu913Gly) n.459A>G c.2744A>G (p.Glu915Gly) n.2902A>G n.396A>G c.*269A>G (n.*269A>G) c.2564A>G (p.Glu855Gly) c.2609A>G (p.Glu870Gly) c.43A>G | |
5 | g.78039108T>G | CA360331980 | AP3B1 | c.2597A>C (p.Glu866Ala) n.544A>C c.2637A>C (n.2637A>C) c.1943A>C (p.Glu648Ala) c.*2506A>C (n.*2506A>C) c.2687A>C (p.Glu896Ala) c.2738A>C (p.Glu913Ala) n.459A>C c.2744A>C (p.Glu915Ala) n.2902A>C n.396A>C c.*269A>C (n.*269A>C) c.2564A>C (p.Glu855Ala) c.2609A>C (p.Glu870Ala) c.43A>C | |
5 | g.78039109C>A | CA360331981 | AP3B1 | c.2596G>T (p.Glu866Ter) n.543G>T c.2636G>T (n.2636G>T) c.1942G>T (p.Glu648Ter) c.*2505G>T (n.*2505G>T) c.2686G>T (p.Glu896Ter) c.2737G>T (p.Glu913Ter) n.458G>T c.2743G>T (p.Glu915Ter) n.2901G>T n.395G>T c.*268G>T (n.*268G>T) c.2563G>T (p.Glu855Ter) c.2608G>T (p.Glu870Ter) c.42G>T | |
5 | g.78039109C>G | CA360331982 | AP3B1 | c.2596G>C (p.Glu866Gln) n.543G>C c.2636G>C (n.2636G>C) c.1942G>C (p.Glu648Gln) c.*2505G>C (n.*2505G>C) c.2686G>C (p.Glu896Gln) c.2737G>C (p.Glu913Gln) n.458G>C c.2743G>C (p.Glu915Gln) n.2901G>C n.395G>C c.*268G>C (n.*268G>C) c.2563G>C (p.Glu855Gln) c.2608G>C (p.Glu870Gln) c.42G>C | |
5 | g.78039109C>T | CA360331983 | AP3B1 | c.2596G>A (p.Glu866Lys) n.543G>A c.2636G>A (n.2636G>A) c.1942G>A (p.Glu648Lys) c.*2505G>A (n.*2505G>A) c.2686G>A (p.Glu896Lys) c.2737G>A (p.Glu913Lys) n.458G>A c.2743G>A (p.Glu915Lys) n.2901G>A n.395G>A c.*268G>A (n.*268G>A) c.2563G>A (p.Glu855Lys) c.2608G>A (p.Glu870Lys) c.42G>A | |
5 | g.78039110T>A | CA445400170 | AP3B1 | c.2595A>T (p.Ile865=) n.542A>T c.2635A>T (n.2635A>T) c.1941A>T (p.Ile647=) c.*2504A>T (n.*2504A>T) c.2685A>T (p.Ile895=) c.2736A>T (p.Ile912=) n.457A>T c.2742A>T (p.Ile914=) n.2900A>T n.394A>T c.*267A>T (n.*267A>T) c.2562A>T (p.Ile854=) c.2607A>T (p.Ile869=) c.41A>T | |
5 | g.78039110T>C | CA360331984 | AP3B1 | c.2595A>G (p.Ile865Met) n.542A>G c.2635A>G (n.2635A>G) c.1941A>G (p.Ile647Met) c.*2504A>G (n.*2504A>G) c.2685A>G (p.Ile895Met) c.2736A>G (p.Ile912Met) n.457A>G c.2742A>G (p.Ile914Met) n.2900A>G n.394A>G c.*267A>G (n.*267A>G) c.2562A>G (p.Ile854Met) c.2607A>G (p.Ile869Met) c.41A>G | |
5 | g.78039110T>G | CA445400171 | AP3B1 | c.2595A>C (p.Ile865=) n.542A>C c.2635A>C (n.2635A>C) c.1941A>C (p.Ile647=) c.*2504A>C (n.*2504A>C) c.2685A>C (p.Ile895=) c.2736A>C (p.Ile912=) n.457A>C c.2742A>C (p.Ile914=) n.2900A>C n.394A>C c.*267A>C (n.*267A>C) c.2562A>C (p.Ile854=) c.2607A>C (p.Ile869=) c.41A>C | |
5 | g.78039110T= | CA1557269183 | AP3B1 | c.2595A= (p.Ile865=) n.542A= c.2635A= (n.2635A=) c.1941A= (p.Ile647=) c.*2504A= (n.*2504A=) c.2685A= (p.Ile895=) c.2736A= (p.Ile912=) n.457A= c.2742A= (p.Ile914=) n.2900A= n.394A= c.*267A= (n.*267A=) c.2562A= (p.Ile854=) c.2607A= (p.Ile869=) c.41A= | |
5 | g.78039111A= | CA1557269186 | AP3B1 | c.2594T= (p.Ile865=) n.541T= c.2634T= (n.2634T=) c.1940T= (p.Ile647=) c.*2503T= (n.*2503T=) c.2684T= (p.Ile895=) c.2735T= (p.Ile912=) n.456T= c.2741T= (p.Ile914=) n.2899T= n.393T= c.*266T= (n.*266T=) c.2561T= (p.Ile854=) c.2606T= (p.Ile869=) c.40T= | |
5 | g.78039111A>C | CA360331985 | AP3B1 | c.2594T>G (p.Ile865Arg) n.541T>G c.2634T>G (n.2634T>G) c.1940T>G (p.Ile647Arg) c.*2503T>G (n.*2503T>G) c.2684T>G (p.Ile895Arg) c.2735T>G (p.Ile912Arg) n.456T>G c.2741T>G (p.Ile914Arg) n.2899T>G n.393T>G c.*266T>G (n.*266T>G) c.2561T>G (p.Ile854Arg) c.2606T>G (p.Ile869Arg) c.40T>G | |
5 | g.78039111A>G | CA360331986 | AP3B1 | c.2594T>C (p.Ile865Thr) n.541T>C c.2634T>C (n.2634T>C) c.1940T>C (p.Ile647Thr) c.*2503T>C (n.*2503T>C) c.2684T>C (p.Ile895Thr) c.2735T>C (p.Ile912Thr) n.456T>C c.2741T>C (p.Ile914Thr) n.2899T>C n.393T>C c.*266T>C (n.*266T>C) c.2561T>C (p.Ile854Thr) c.2606T>C (p.Ile869Thr) c.40T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039111A>T | CA360331987 | AP3B1 | c.2594T>A (p.Ile865Lys) n.541T>A c.2634T>A (n.2634T>A) c.1940T>A (p.Ile647Lys) c.*2503T>A (n.*2503T>A) c.2684T>A (p.Ile895Lys) c.2735T>A (p.Ile912Lys) n.456T>A c.2741T>A (p.Ile914Lys) n.2899T>A n.393T>A c.*266T>A (n.*266T>A) c.2561T>A (p.Ile854Lys) c.2606T>A (p.Ile869Lys) c.40T>A | |
5 | g.78039116_78039117insTCATCTTT | CA1557269185 | AP3B1 | c.2594_2595insGAAAAGAT (p.Ile865MetfsTer4) n.541_542insGAAAAGAT c.2634_2635insGAAAAGAT (n.2634_2635insGAAAAGAT) c.1940_1941insGAAAAGAT (p.Ile647MetfsTer4) c.*2503_*2504insGAAAAGAT (n.*2503_*2504insGAAAAGAT) c.2684_2685insGAAAAGAT (p.Ile895MetfsTer4) c.2735_2736insGAAAAGAT (p.Ile912MetfsTer4) n.456_457insGAAAAGAT c.2741_2742insGAAAAGAT (p.Ile914MetfsTer4) n.2899_2900insGAAAAGAT n.393_394insGAAAAGAT c.*266_*267insGAAAAGAT (n.*266_*267insGAAAAGAT) c.2561_2562insGAAAAGAT (p.Ile854MetfsTer4) c.2606_2607insGAAAAGAT (p.Ile869MetfsTer4) c.40_41insGAAAAGAT | dbSNP |
5 | g.78039112T>A | CA360331989 | AP3B1 | c.2593A>T (p.Ile865Leu) n.540A>T c.2633A>T (n.2633A>T) c.1939A>T (p.Ile647Leu) c.*2502A>T (n.*2502A>T) c.2683A>T (p.Ile895Leu) c.2734A>T (p.Ile912Leu) n.455A>T c.2740A>T (p.Ile914Leu) n.2898A>T n.392A>T c.*265A>T (n.*265A>T) c.2560A>T (p.Ile854Leu) c.2605A>T (p.Ile869Leu) c.39A>T | gnomAD v4 |
5 | g.78039112T>C | CA360331990 | AP3B1 | c.2593A>G (p.Ile865Val) n.540A>G c.2633A>G (n.2633A>G) c.1939A>G (p.Ile647Val) c.*2502A>G (n.*2502A>G) c.2683A>G (p.Ile895Val) c.2734A>G (p.Ile912Val) n.455A>G c.2740A>G (p.Ile914Val) n.2898A>G n.392A>G c.*265A>G (n.*265A>G) c.2560A>G (p.Ile854Val) c.2605A>G (p.Ile869Val) c.39A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039112T>G | CA360331988 | AP3B1 | c.2593A>C (p.Ile865Leu) n.540A>C c.2633A>C (n.2633A>C) c.1939A>C (p.Ile647Leu) c.*2502A>C (n.*2502A>C) c.2683A>C (p.Ile895Leu) c.2734A>C (p.Ile912Leu) n.455A>C c.2740A>C (p.Ile914Leu) n.2898A>C n.392A>C c.*265A>C (n.*265A>C) c.2560A>C (p.Ile854Leu) c.2605A>C (p.Ile869Leu) c.39A>C | |
5 | g.78039112T= | CA1557269188 | AP3B1 | c.2593A= (p.Ile865=) n.540A= c.2633A= (n.2633A=) c.1939A= (p.Ile647=) c.*2502A= (n.*2502A=) c.2683A= (p.Ile895=) c.2734A= (p.Ile912=) n.455A= c.2740A= (p.Ile914=) n.2898A= n.392A= c.*265A= (n.*265A=) c.2560A= (p.Ile854=) c.2605A= (p.Ile869=) c.39A= | |
5 | g.78039113C>A | CA360331991 | AP3B1 | c.2592G>T (p.Lys864Asn) n.539G>T c.2632G>T (n.2632G>T) c.1938G>T (p.Lys646Asn) c.*2501G>T (n.*2501G>T) c.2682G>T (p.Lys894Asn) c.2733G>T (p.Lys911Asn) n.454G>T c.2739G>T (p.Lys913Asn) n.2897G>T n.391G>T c.*264G>T (n.*264G>T) c.2559G>T (p.Lys853Asn) c.2604G>T (p.Lys868Asn) c.38G>T | |
5 | g.78039113C>G | CA360331992 | AP3B1 | c.2592G>C (p.Lys864Asn) n.539G>C c.2632G>C (n.2632G>C) c.1938G>C (p.Lys646Asn) c.*2501G>C (n.*2501G>C) c.2682G>C (p.Lys894Asn) c.2733G>C (p.Lys911Asn) n.454G>C c.2739G>C (p.Lys913Asn) n.2897G>C n.391G>C c.*264G>C (n.*264G>C) c.2559G>C (p.Lys853Asn) c.2604G>C (p.Lys868Asn) c.38G>C | |
5 | g.78039113C>T | CA445400173 | AP3B1 | c.2592G>A (p.Lys864=) n.539G>A c.2632G>A (n.2632G>A) c.1938G>A (p.Lys646=) c.*2501G>A (n.*2501G>A) c.2682G>A (p.Lys894=) c.2733G>A (p.Lys911=) n.454G>A c.2739G>A (p.Lys913=) n.2897G>A n.391G>A c.*264G>A (n.*264G>A) c.2559G>A (p.Lys853=) c.2604G>A (p.Lys868=) c.38G>A | |
5 | g.78039114T>A | CA360331993 | AP3B1 | c.2591A>T (p.Lys864Met) n.538A>T c.2631A>T (n.2631A>T) c.1937A>T (p.Lys646Met) c.*2500A>T (n.*2500A>T) c.2681A>T (p.Lys894Met) c.2732A>T (p.Lys911Met) n.453A>T c.2738A>T (p.Lys913Met) n.2896A>T n.390A>T c.*263A>T (n.*263A>T) c.2558A>T (p.Lys853Met) c.2603A>T (p.Lys868Met) c.37A>T | |
5 | g.78039114T>C | CA360331994 | AP3B1 | c.2591A>G (p.Lys864Arg) n.538A>G c.2631A>G (n.2631A>G) c.1937A>G (p.Lys646Arg) c.*2500A>G (n.*2500A>G) c.2681A>G (p.Lys894Arg) c.2732A>G (p.Lys911Arg) n.453A>G c.2738A>G (p.Lys913Arg) n.2896A>G n.390A>G c.*263A>G (n.*263A>G) c.2558A>G (p.Lys853Arg) c.2603A>G (p.Lys868Arg) c.37A>G | |
5 | g.78039114T>G | CA360331995 | AP3B1 | c.2591A>C (p.Lys864Thr) n.538A>C c.2631A>C (n.2631A>C) c.1937A>C (p.Lys646Thr) c.*2500A>C (n.*2500A>C) c.2681A>C (p.Lys894Thr) c.2732A>C (p.Lys911Thr) n.453A>C c.2738A>C (p.Lys913Thr) n.2896A>C n.390A>C c.*263A>C (n.*263A>C) c.2558A>C (p.Lys853Thr) c.2603A>C (p.Lys868Thr) c.37A>C | |
5 | g.78039116del | CA2573139962 | AP3B1 | c.2591del (p.Lys864ArgfsTer2) n.538del c.2631del (n.2631del) c.1937del (p.Lys646ArgfsTer2) c.*2500del (n.*2500del) c.2681del (p.Lys894ArgfsTer2) c.2732del (p.Lys911ArgfsTer2) n.453del c.2738del (p.Lys913ArgfsTer2) n.2896del n.390del c.*263del (n.*263del) c.2558del (p.Lys853ArgfsTer2) c.2603del (p.Lys868ArgfsTer2) c.37del | ClinVar dbSNP |
5 | g.78039115T>A | CA360331996 | AP3B1 | c.2590A>T (p.Lys864Ter) n.537A>T c.2630A>T (n.2630A>T) c.1936A>T (p.Lys646Ter) c.*2499A>T (n.*2499A>T) c.2680A>T (p.Lys894Ter) c.2731A>T (p.Lys911Ter) n.452A>T c.2737A>T (p.Lys913Ter) n.2895A>T n.389A>T c.*262A>T (n.*262A>T) c.2557A>T (p.Lys853Ter) c.2602A>T (p.Lys868Ter) c.36A>T | |
5 | g.78039115T>C | CA360331997 | AP3B1 | c.2590A>G (p.Lys864Glu) n.537A>G c.2630A>G (n.2630A>G) c.1936A>G (p.Lys646Glu) c.*2499A>G (n.*2499A>G) c.2680A>G (p.Lys894Glu) c.2731A>G (p.Lys911Glu) n.452A>G c.2737A>G (p.Lys913Glu) n.2895A>G n.389A>G c.*262A>G (n.*262A>G) c.2557A>G (p.Lys853Glu) c.2602A>G (p.Lys868Glu) c.36A>G | COSMIC |
5 | g.78039115T>G | CA360331998 | AP3B1 | c.2590A>C (p.Lys864Gln) n.537A>C c.2630A>C (n.2630A>C) c.1936A>C (p.Lys646Gln) c.*2499A>C (n.*2499A>C) c.2680A>C (p.Lys894Gln) c.2731A>C (p.Lys911Gln) n.452A>C c.2737A>C (p.Lys913Gln) n.2895A>C n.389A>C c.*262A>C (n.*262A>C) c.2557A>C (p.Lys853Gln) c.2602A>C (p.Lys868Gln) c.36A>C | |
5 | g.78039116T>A | CA445400174 | AP3B1 | c.2589A>T (p.Arg863=) n.536A>T c.2629A>T (n.2629A>T) c.1935A>T (p.Arg645=) c.*2498A>T (n.*2498A>T) c.2679A>T (p.Arg893=) c.2730A>T (p.Arg910=) n.451A>T c.2736A>T (p.Arg912=) n.2894A>T n.388A>T c.*261A>T (n.*261A>T) c.2556A>T (p.Arg852=) c.2601A>T (p.Arg867=) c.35A>T | |
5 | g.78039116T>C | CA445400175 | AP3B1 | c.2589A>G (p.Arg863=) n.536A>G c.2629A>G (n.2629A>G) c.1935A>G (p.Arg645=) c.*2498A>G (n.*2498A>G) c.2679A>G (p.Arg893=) c.2730A>G (p.Arg910=) n.451A>G c.2736A>G (p.Arg912=) n.2894A>G n.388A>G c.*261A>G (n.*261A>G) c.2556A>G (p.Arg852=) c.2601A>G (p.Arg867=) c.35A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039116T>G | CA445400176 | AP3B1 | c.2589A>C (p.Arg863=) n.536A>C c.2629A>C (n.2629A>C) c.1935A>C (p.Arg645=) c.*2498A>C (n.*2498A>C) c.2679A>C (p.Arg893=) c.2730A>C (p.Arg910=) n.451A>C c.2736A>C (p.Arg912=) n.2894A>C n.388A>C c.*261A>C (n.*261A>C) c.2556A>C (p.Arg852=) c.2601A>C (p.Arg867=) c.35A>C | |
5 | g.78039116T= | CA1557269192 | AP3B1 | c.2589A= (p.Arg863=) n.536A= c.2629A= (n.2629A=) c.1935A= (p.Arg645=) c.*2498A= (n.*2498A=) c.2679A= (p.Arg893=) c.2730A= (p.Arg910=) n.451A= c.2736A= (p.Arg912=) n.2894A= n.388A= c.*261A= (n.*261A=) c.2556A= (p.Arg852=) c.2601A= (p.Arg867=) c.35A= | |
5 | g.78039117C>A | CA360331999 | AP3B1 | c.2588G>T (p.Arg863Leu) n.535G>T c.2628G>T (n.2628G>T) c.1934G>T (p.Arg645Leu) c.*2497G>T (n.*2497G>T) c.2678G>T (p.Arg893Leu) c.2729G>T (p.Arg910Leu) n.450G>T c.2735G>T (p.Arg912Leu) n.2893G>T n.387G>T c.*260G>T (n.*260G>T) c.2555G>T (p.Arg852Leu) c.2600G>T (p.Arg867Leu) c.34G>T | |
5 | g.78039117C= | CA1557269197 | AP3B1 | c.2588G= (p.Arg863=) n.535G= c.2628G= (n.2628G=) c.1934G= (p.Arg645=) c.*2497G= (n.*2497G=) c.2678G= (p.Arg893=) c.2729G= (p.Arg910=) n.450G= c.2735G= (p.Arg912=) n.2893G= n.387G= c.*260G= (n.*260G=) c.2555G= (p.Arg852=) c.2600G= (p.Arg867=) c.34G= | |
5 | g.78039117C>G | CA360332000 | AP3B1 | c.2588G>C (p.Arg863Pro) n.535G>C c.2628G>C (n.2628G>C) c.1934G>C (p.Arg645Pro) c.*2497G>C (n.*2497G>C) c.2678G>C (p.Arg893Pro) c.2729G>C (p.Arg910Pro) n.450G>C c.2735G>C (p.Arg912Pro) n.2893G>C n.387G>C c.*260G>C (n.*260G>C) c.2555G>C (p.Arg852Pro) c.2600G>C (p.Arg867Pro) c.34G>C | |
5 | g.78039117C>T | CA360332001 | AP3B1 | c.2588G>A (p.Arg863Gln) n.535G>A c.2628G>A (n.2628G>A) c.1934G>A (p.Arg645Gln) c.*2497G>A (n.*2497G>A) c.2678G>A (p.Arg893Gln) c.2729G>A (p.Arg910Gln) n.450G>A c.2735G>A (p.Arg912Gln) n.2893G>A n.387G>A c.*260G>A (n.*260G>A) c.2555G>A (p.Arg852Gln) c.2600G>A (p.Arg867Gln) c.34G>A | dbSNP gnomAD v4 COSMIC |
5 | g.78039118G>A | CA360332002 | AP3B1 | c.2587C>T (p.Arg863Ter) n.534C>T c.2627C>T (n.2627C>T) c.1933C>T (p.Arg645Ter) c.*2496C>T (n.*2496C>T) c.2677C>T (p.Arg893Ter) c.2728C>T (p.Arg910Ter) n.449C>T c.2734C>T (p.Arg912Ter) n.2892C>T n.386C>T c.*259C>T (n.*259C>T) c.2554C>T (p.Arg852Ter) c.2599C>T (p.Arg867Ter) c.33C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.78039118G>C | CA360332003 | AP3B1 | c.2587C>G (p.Arg863Gly) n.534C>G c.2627C>G (n.2627C>G) c.1933C>G (p.Arg645Gly) c.*2496C>G (n.*2496C>G) c.2677C>G (p.Arg893Gly) c.2728C>G (p.Arg910Gly) n.449C>G c.2734C>G (p.Arg912Gly) n.2892C>G n.386C>G c.*259C>G (n.*259C>G) c.2554C>G (p.Arg852Gly) c.2599C>G (p.Arg867Gly) c.33C>G | |
5 | g.78039118G= | CA1557269201 | AP3B1 | c.2587C= (p.Arg863=) n.534C= c.2627C= (n.2627C=) c.1933C= (p.Arg645=) c.*2496C= (n.*2496C=) c.2677C= (p.Arg893=) c.2728C= (p.Arg910=) n.449C= c.2734C= (p.Arg912=) n.2892C= n.386C= c.*259C= (n.*259C=) c.2554C= (p.Arg852=) c.2599C= (p.Arg867=) c.33C= | |
5 | g.78039118G>T | CA3316694 | AP3B1 | c.2587C>A (p.Arg863=) n.534C>A c.2627C>A (n.2627C>A) c.1933C>A (p.Arg645=) c.*2496C>A (n.*2496C>A) c.2677C>A (p.Arg893=) c.2728C>A (p.Arg910=) n.449C>A c.2734C>A (p.Arg912=) n.2892C>A n.386C>A c.*259C>A (n.*259C>A) c.2554C>A (p.Arg852=) c.2599C>A (p.Arg867=) c.33C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.78039119A= | CA1557269205 | AP3B1 | c.2586T= (p.Asp862=) n.533T= c.2626T= (n.2626T=) c.1932T= (p.Asp644=) c.*2495T= (n.*2495T=) c.2676T= (p.Asp892=) c.2727T= (p.Asp909=) n.448T= c.2733T= (p.Asp911=) n.2891T= n.385T= c.*258T= (n.*258T=) c.2553T= (p.Asp851=) c.2598T= (p.Asp866=) c.32T= | |
5 | g.78039119A>C | CA360332004 | AP3B1 | c.2586T>G (p.Asp862Glu) n.533T>G c.2626T>G (n.2626T>G) c.1932T>G (p.Asp644Glu) c.*2495T>G (n.*2495T>G) c.2676T>G (p.Asp892Glu) c.2727T>G (p.Asp909Glu) n.448T>G c.2733T>G (p.Asp911Glu) n.2891T>G n.385T>G c.*258T>G (n.*258T>G) c.2553T>G (p.Asp851Glu) c.2598T>G (p.Asp866Glu) c.32T>G | |
5 | g.78039119A>G | CA445400179 | AP3B1 | c.2586T>C (p.Asp862=) n.533T>C c.2626T>C (n.2626T>C) c.1932T>C (p.Asp644=) c.*2495T>C (n.*2495T>C) c.2676T>C (p.Asp892=) c.2727T>C (p.Asp909=) n.448T>C c.2733T>C (p.Asp911=) n.2891T>C n.385T>C c.*258T>C (n.*258T>C) c.2553T>C (p.Asp851=) c.2598T>C (p.Asp866=) c.32T>C | gnomAD v4 |
5 | g.78039119A>T | CA360332005 | AP3B1 | c.2586T>A (p.Asp862Glu) n.533T>A c.2626T>A (n.2626T>A) c.1932T>A (p.Asp644Glu) c.*2495T>A (n.*2495T>A) c.2676T>A (p.Asp892Glu) c.2727T>A (p.Asp909Glu) n.448T>A c.2733T>A (p.Asp911Glu) n.2891T>A n.385T>A c.*258T>A (n.*258T>A) c.2553T>A (p.Asp851Glu) c.2598T>A (p.Asp866Glu) c.32T>A | dbSNP |
5 | g.78039121_78039148del | CA2674351447 | AP3B1 | c.2559_2586del (p.Gln854GlufsTer3) n.506_533del c.2599_2626del (n.2599_2626del) c.1905_1932del (p.Gln636GlufsTer3) c.*2468_*2495del (n.*2468_*2495del) c.2649_2676del (p.Gln884GlufsTer3) c.2700_2727del (p.Gln901GlufsTer3) n.421_448del c.2706_2733del (p.Gln903GlufsTer3) n.2864_2891del n.358_385del c.*231_*258del (n.*231_*258del) c.2526_2553del (p.Gln843GlufsTer3) c.2571_2598del (p.Gln858GlufsTer3) c.5_32del | gnomAD v4 |
5 | g.78039120T>A | CA360332006 | AP3B1 | c.2585A>T (p.Asp862Val) n.532A>T c.2625A>T (n.2625A>T) c.1931A>T (p.Asp644Val) c.*2494A>T (n.*2494A>T) c.2675A>T (p.Asp892Val) c.2726A>T (p.Asp909Val) n.447A>T c.2732A>T (p.Asp911Val) n.2890A>T n.384A>T c.*257A>T (n.*257A>T) c.2552A>T (p.Asp851Val) c.2597A>T (p.Asp866Val) c.31A>T | |
5 | g.78039120T>C | CA360332007 | AP3B1 | c.2585A>G (p.Asp862Gly) n.532A>G c.2625A>G (n.2625A>G) c.1931A>G (p.Asp644Gly) c.*2494A>G (n.*2494A>G) c.2675A>G (p.Asp892Gly) c.2726A>G (p.Asp909Gly) n.447A>G c.2732A>G (p.Asp911Gly) n.2890A>G n.384A>G c.*257A>G (n.*257A>G) c.2552A>G (p.Asp851Gly) c.2597A>G (p.Asp866Gly) c.31A>G | |
5 | g.78039120T>G | CA360332008 | AP3B1 | c.2585A>C (p.Asp862Ala) n.532A>C c.2625A>C (n.2625A>C) c.1931A>C (p.Asp644Ala) c.*2494A>C (n.*2494A>C) c.2675A>C (p.Asp892Ala) c.2726A>C (p.Asp909Ala) n.447A>C c.2732A>C (p.Asp911Ala) n.2890A>C n.384A>C c.*257A>C (n.*257A>C) c.2552A>C (p.Asp851Ala) c.2597A>C (p.Asp866Ala) c.31A>C | |
5 | g.78039121C>A | CA360332009 | AP3B1 | c.2584G>T (p.Asp862Tyr) n.531G>T c.2624G>T (n.2624G>T) c.1930G>T (p.Asp644Tyr) c.*2493G>T (n.*2493G>T) c.2674G>T (p.Asp892Tyr) c.2725G>T (p.Asp909Tyr) n.446G>T c.2731G>T (p.Asp911Tyr) n.2889G>T n.383G>T c.*256G>T (n.*256G>T) c.2551G>T (p.Asp851Tyr) c.2596G>T (p.Asp866Tyr) c.30G>T | gnomAD v4 |
5 | g.78039121C= | CA1557269207 | AP3B1 | c.2584G= (p.Asp862=) n.531G= c.2624G= (n.2624G=) c.1930G= (p.Asp644=) c.*2493G= (n.*2493G=) c.2674G= (p.Asp892=) c.2725G= (p.Asp909=) n.446G= c.2731G= (p.Asp911=) n.2889G= n.383G= c.*256G= (n.*256G=) c.2551G= (p.Asp851=) c.2596G= (p.Asp866=) c.30G= | |
5 | g.78039121C>G | CA360332010 | AP3B1 | c.2584G>C (p.Asp862His) n.531G>C c.2624G>C (n.2624G>C) c.1930G>C (p.Asp644His) c.*2493G>C (n.*2493G>C) c.2674G>C (p.Asp892His) c.2725G>C (p.Asp909His) n.446G>C c.2731G>C (p.Asp911His) n.2889G>C n.383G>C c.*256G>C (n.*256G>C) c.2551G>C (p.Asp851His) c.2596G>C (p.Asp866His) c.30G>C | |
5 | g.78039121C>T | CA360332011 | AP3B1 | c.2584G>A (p.Asp862Asn) n.531G>A c.2624G>A (n.2624G>A) c.1930G>A (p.Asp644Asn) c.*2493G>A (n.*2493G>A) c.2674G>A (p.Asp892Asn) c.2725G>A (p.Asp909Asn) n.446G>A c.2731G>A (p.Asp911Asn) n.2889G>A n.383G>A c.*256G>A (n.*256G>A) c.2551G>A (p.Asp851Asn) c.2596G>A (p.Asp866Asn) c.30G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039122A= | CA1557269211 | AP3B1 | c.2583T= (p.Thr861=) n.530T= c.2623T= (n.2623T=) c.1929T= (p.Thr643=) c.*2492T= (n.*2492T=) c.2673T= (p.Thr891=) c.2724T= (p.Thr908=) n.445T= c.2730T= (p.Thr910=) n.2888T= n.382T= c.*255T= (n.*255T=) c.2550T= (p.Thr850=) c.2595T= (p.Thr865=) c.29T= | |
5 | g.78039122A>C | CA121596983 | AP3B1 | c.2583T>G (p.Thr861=) n.530T>G c.2623T>G (n.2623T>G) c.1929T>G (p.Thr643=) c.*2492T>G (n.*2492T>G) c.2673T>G (p.Thr891=) c.2724T>G (p.Thr908=) n.445T>G c.2730T>G (p.Thr910=) n.2888T>G n.382T>G c.*255T>G (n.*255T>G) c.2550T>G (p.Thr850=) c.2595T>G (p.Thr865=) c.29T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039122A>G | CA3316695 | AP3B1 | c.2583T>C (p.Thr861=) n.530T>C c.2623T>C (n.2623T>C) c.1929T>C (p.Thr643=) c.*2492T>C (n.*2492T>C) c.2673T>C (p.Thr891=) c.2724T>C (p.Thr908=) n.445T>C c.2730T>C (p.Thr910=) n.2888T>C n.382T>C c.*255T>C (n.*255T>C) c.2550T>C (p.Thr850=) c.2595T>C (p.Thr865=) c.29T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039122A>T | CA445400182 | AP3B1 | c.2583T>A (p.Thr861=) n.530T>A c.2623T>A (n.2623T>A) c.1929T>A (p.Thr643=) c.*2492T>A (n.*2492T>A) c.2673T>A (p.Thr891=) c.2724T>A (p.Thr908=) n.445T>A c.2730T>A (p.Thr910=) n.2888T>A n.382T>A c.*255T>A (n.*255T>A) c.2550T>A (p.Thr850=) c.2595T>A (p.Thr865=) c.29T>A | |
5 | g.78039123G>A | CA360332012 | AP3B1 | c.2582C>T (p.Thr861Ile) n.529C>T c.2622C>T (n.2622C>T) c.1928C>T (p.Thr643Ile) c.*2491C>T (n.*2491C>T) c.2672C>T (p.Thr891Ile) c.2723C>T (p.Thr908Ile) n.444C>T c.2729C>T (p.Thr910Ile) n.2887C>T n.381C>T c.*254C>T (n.*254C>T) c.2549C>T (p.Thr850Ile) c.2594C>T (p.Thr865Ile) c.28C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.78039123G>C | CA360332013 | AP3B1 | c.2582C>G (p.Thr861Ser) n.529C>G c.2622C>G (n.2622C>G) c.1928C>G (p.Thr643Ser) c.*2491C>G (n.*2491C>G) c.2672C>G (p.Thr891Ser) c.2723C>G (p.Thr908Ser) n.444C>G c.2729C>G (p.Thr910Ser) n.2887C>G n.381C>G c.*254C>G (n.*254C>G) c.2549C>G (p.Thr850Ser) c.2594C>G (p.Thr865Ser) c.28C>G | |
5 | g.78039123G= | CA1557269215 | AP3B1 | c.2582C= (p.Thr861=) n.529C= c.2622C= (n.2622C=) c.1928C= (p.Thr643=) c.*2491C= (n.*2491C=) c.2672C= (p.Thr891=) c.2723C= (p.Thr908=) n.444C= c.2729C= (p.Thr910=) n.2887C= n.381C= c.*254C= (n.*254C=) c.2549C= (p.Thr850=) c.2594C= (p.Thr865=) c.28C= | |
5 | g.78039123G>T | CA360332014 | AP3B1 | c.2582C>A (p.Thr861Asn) n.529C>A c.2622C>A (n.2622C>A) c.1928C>A (p.Thr643Asn) c.*2491C>A (n.*2491C>A) c.2672C>A (p.Thr891Asn) c.2723C>A (p.Thr908Asn) n.444C>A c.2729C>A (p.Thr910Asn) n.2887C>A n.381C>A c.*254C>A (n.*254C>A) c.2549C>A (p.Thr850Asn) c.2594C>A (p.Thr865Asn) c.28C>A | |
5 | g.78039124T>A | CA360332015 | AP3B1 | c.2581A>T (p.Thr861Ser) n.528A>T c.2621A>T (n.2621A>T) c.1927A>T (p.Thr643Ser) c.*2490A>T (n.*2490A>T) c.2671A>T (p.Thr891Ser) c.2722A>T (p.Thr908Ser) n.443A>T c.2728A>T (p.Thr910Ser) n.2886A>T n.380A>T c.*253A>T (n.*253A>T) c.2548A>T (p.Thr850Ser) c.2593A>T (p.Thr865Ser) c.27A>T | |
5 | g.78039124T>C | CA360332016 | AP3B1 | c.2581A>G (p.Thr861Ala) n.528A>G c.2621A>G (n.2621A>G) c.1927A>G (p.Thr643Ala) c.*2490A>G (n.*2490A>G) c.2671A>G (p.Thr891Ala) c.2722A>G (p.Thr908Ala) n.443A>G c.2728A>G (p.Thr910Ala) n.2886A>G n.380A>G c.*253A>G (n.*253A>G) c.2548A>G (p.Thr850Ala) c.2593A>G (p.Thr865Ala) c.27A>G | dbSNP |
5 | g.78039124T>G | CA360332017 | AP3B1 | c.2581A>C (p.Thr861Pro) n.528A>C c.2621A>C (n.2621A>C) c.1927A>C (p.Thr643Pro) c.*2490A>C (n.*2490A>C) c.2671A>C (p.Thr891Pro) c.2722A>C (p.Thr908Pro) n.443A>C c.2728A>C (p.Thr910Pro) n.2886A>C n.380A>C c.*253A>C (n.*253A>C) c.2548A>C (p.Thr850Pro) c.2593A>C (p.Thr865Pro) c.27A>C | |
5 | g.78039124T= | CA1557269217 | AP3B1 | c.2581A= (p.Thr861=) n.528A= c.2621A= (n.2621A=) c.1927A= (p.Thr643=) c.*2490A= (n.*2490A=) c.2671A= (p.Thr891=) c.2722A= (p.Thr908=) n.443A= c.2728A= (p.Thr910=) n.2886A= n.380A= c.*253A= (n.*253A=) c.2548A= (p.Thr850=) c.2593A= (p.Thr865=) c.27A= | |
5 | g.78039125A= | CA1557269219 | AP3B1 | c.2580T= (p.Thr860=) n.527T= c.2620T= (n.2620T=) c.1926T= (p.Thr642=) c.*2489T= (n.*2489T=) c.2670T= (p.Thr890=) c.2721T= (p.Thr907=) n.442T= c.2727T= (p.Thr909=) n.2885T= n.379T= c.*252T= (n.*252T=) c.2547T= (p.Thr849=) c.2592T= (p.Thr864=) c.26T= | |
5 | g.78039125A>C | CA445400184 | AP3B1 | c.2580T>G (p.Thr860=) n.527T>G c.2620T>G (n.2620T>G) c.1926T>G (p.Thr642=) c.*2489T>G (n.*2489T>G) c.2670T>G (p.Thr890=) c.2721T>G (p.Thr907=) n.442T>G c.2727T>G (p.Thr909=) n.2885T>G n.379T>G c.*252T>G (n.*252T>G) c.2547T>G (p.Thr849=) c.2592T>G (p.Thr864=) c.26T>G | |
5 | g.78039125A>G | CA445400186 | AP3B1 | c.2580T>C (p.Thr860=) n.527T>C c.2620T>C (n.2620T>C) c.1926T>C (p.Thr642=) c.*2489T>C (n.*2489T>C) c.2670T>C (p.Thr890=) c.2721T>C (p.Thr907=) n.442T>C c.2727T>C (p.Thr909=) n.2885T>C n.379T>C c.*252T>C (n.*252T>C) c.2547T>C (p.Thr849=) c.2592T>C (p.Thr864=) c.26T>C | dbSNP |
5 | g.78039125A>T | CA445400185 | AP3B1 | c.2580T>A (p.Thr860=) n.527T>A c.2620T>A (n.2620T>A) c.1926T>A (p.Thr642=) c.*2489T>A (n.*2489T>A) c.2670T>A (p.Thr890=) c.2721T>A (p.Thr907=) n.442T>A c.2727T>A (p.Thr909=) n.2885T>A n.379T>A c.*252T>A (n.*252T>A) c.2547T>A (p.Thr849=) c.2592T>A (p.Thr864=) c.26T>A | |
5 | g.78039126G>A | CA360332019 | AP3B1 | c.2579C>T (p.Thr860Ile) n.526C>T c.2619C>T (n.2619C>T) c.1925C>T (p.Thr642Ile) c.*2488C>T (n.*2488C>T) c.2669C>T (p.Thr890Ile) c.2720C>T (p.Thr907Ile) n.441C>T c.2726C>T (p.Thr909Ile) n.2884C>T n.378C>T c.*251C>T (n.*251C>T) c.2546C>T (p.Thr849Ile) c.2591C>T (p.Thr864Ile) c.25C>T | ClinVar dbSNP gnomAD v4 |
5 | g.78039126G>C | CA360332020 | AP3B1 | c.2579C>G (p.Thr860Ser) n.526C>G c.2619C>G (n.2619C>G) c.1925C>G (p.Thr642Ser) c.*2488C>G (n.*2488C>G) c.2669C>G (p.Thr890Ser) c.2720C>G (p.Thr907Ser) n.441C>G c.2726C>G (p.Thr909Ser) n.2884C>G n.378C>G c.*251C>G (n.*251C>G) c.2546C>G (p.Thr849Ser) c.2591C>G (p.Thr864Ser) c.25C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039126G= | CA1557269221 | AP3B1 | c.2579C= (p.Thr860=) n.526C= c.2619C= (n.2619C=) c.1925C= (p.Thr642=) c.*2488C= (n.*2488C=) c.2669C= (p.Thr890=) c.2720C= (p.Thr907=) n.441C= c.2726C= (p.Thr909=) n.2884C= n.378C= c.*251C= (n.*251C=) c.2546C= (p.Thr849=) c.2591C= (p.Thr864=) c.25C= | |
5 | g.78039126G>T | CA360332018 | AP3B1 | c.2579C>A (p.Thr860Asn) n.526C>A c.2619C>A (n.2619C>A) c.1925C>A (p.Thr642Asn) c.*2488C>A (n.*2488C>A) c.2669C>A (p.Thr890Asn) c.2720C>A (p.Thr907Asn) n.441C>A c.2726C>A (p.Thr909Asn) n.2884C>A n.378C>A c.*251C>A (n.*251C>A) c.2546C>A (p.Thr849Asn) c.2591C>A (p.Thr864Asn) c.25C>A | |
5 | g.78039127T>A | CA360332022 | AP3B1 | c.2578A>T (p.Thr860Ser) n.525A>T c.2618A>T (n.2618A>T) c.1924A>T (p.Thr642Ser) c.*2487A>T (n.*2487A>T) c.2668A>T (p.Thr890Ser) c.2719A>T (p.Thr907Ser) n.440A>T c.2725A>T (p.Thr909Ser) n.2883A>T n.377A>T c.*250A>T (n.*250A>T) c.2545A>T (p.Thr849Ser) c.2590A>T (p.Thr864Ser) c.24A>T | |
5 | g.78039127T>C | CA360332021 | AP3B1 | c.2578A>G (p.Thr860Ala) n.525A>G c.2618A>G (n.2618A>G) c.1924A>G (p.Thr642Ala) c.*2487A>G (n.*2487A>G) c.2668A>G (p.Thr890Ala) c.2719A>G (p.Thr907Ala) n.440A>G c.2725A>G (p.Thr909Ala) n.2883A>G n.377A>G c.*250A>G (n.*250A>G) c.2545A>G (p.Thr849Ala) c.2590A>G (p.Thr864Ala) c.24A>G | ClinVar dbSNP gnomAD v4 |
5 | g.78039127T>G | CA360332023 | AP3B1 | c.2578A>C (p.Thr860Pro) n.525A>C c.2618A>C (n.2618A>C) c.1924A>C (p.Thr642Pro) c.*2487A>C (n.*2487A>C) c.2668A>C (p.Thr890Pro) c.2719A>C (p.Thr907Pro) n.440A>C c.2725A>C (p.Thr909Pro) n.2883A>C n.377A>C c.*250A>C (n.*250A>C) c.2545A>C (p.Thr849Pro) c.2590A>C (p.Thr864Pro) c.24A>C | |
5 | g.78039127T= | CA1557269225 | AP3B1 | c.2578A= (p.Thr860=) n.525A= c.2618A= (n.2618A=) c.1924A= (p.Thr642=) c.*2487A= (n.*2487A=) c.2668A= (p.Thr890=) c.2719A= (p.Thr907=) n.440A= c.2725A= (p.Thr909=) n.2883A= n.377A= c.*250A= (n.*250A=) c.2545A= (p.Thr849=) c.2590A= (p.Thr864=) c.24A= | |
5 | g.78039128G>A | CA445400194 | AP3B1 | c.2577C>T (p.Asn859=) n.524C>T c.2617C>T (n.2617C>T) c.1923C>T (p.Asn641=) c.*2486C>T (n.*2486C>T) c.2667C>T (p.Asn889=) c.2718C>T (p.Asn906=) n.439C>T c.2724C>T (p.Asn908=) n.2882C>T n.376C>T c.*249C>T (n.*249C>T) c.2544C>T (p.Asn848=) c.2589C>T (p.Asn863=) c.23C>T | gnomAD v4 |
5 | g.78039128G>C | CA360332024 | AP3B1 | c.2577C>G (p.Asn859Lys) n.524C>G c.2617C>G (n.2617C>G) c.1923C>G (p.Asn641Lys) c.*2486C>G (n.*2486C>G) c.2667C>G (p.Asn889Lys) c.2718C>G (p.Asn906Lys) n.439C>G c.2724C>G (p.Asn908Lys) n.2882C>G n.376C>G c.*249C>G (n.*249C>G) c.2544C>G (p.Asn848Lys) c.2589C>G (p.Asn863Lys) c.23C>G | |
5 | g.78039128G>T | CA360332025 | AP3B1 | c.2577C>A (p.Asn859Lys) n.524C>A c.2617C>A (n.2617C>A) c.1923C>A (p.Asn641Lys) c.*2486C>A (n.*2486C>A) c.2667C>A (p.Asn889Lys) c.2718C>A (p.Asn906Lys) n.439C>A c.2724C>A (p.Asn908Lys) n.2882C>A n.376C>A c.*249C>A (n.*249C>A) c.2544C>A (p.Asn848Lys) c.2589C>A (p.Asn863Lys) c.23C>A | |
5 | g.78039129T>A | CA360332026 | AP3B1 | c.2576A>T (p.Asn859Ile) n.523A>T c.2616A>T (n.2616A>T) c.1922A>T (p.Asn641Ile) c.*2485A>T (n.*2485A>T) c.2666A>T (p.Asn889Ile) c.2717A>T (p.Asn906Ile) n.438A>T c.2723A>T (p.Asn908Ile) n.2881A>T n.375A>T c.*248A>T (n.*248A>T) c.2543A>T (p.Asn848Ile) c.2588A>T (p.Asn863Ile) c.22A>T | |
5 | g.78039129T>C | CA360332027 | AP3B1 | c.2576A>G (p.Asn859Ser) n.523A>G c.2616A>G (n.2616A>G) c.1922A>G (p.Asn641Ser) c.*2485A>G (n.*2485A>G) c.2666A>G (p.Asn889Ser) c.2717A>G (p.Asn906Ser) n.438A>G c.2723A>G (p.Asn908Ser) n.2881A>G n.375A>G c.*248A>G (n.*248A>G) c.2543A>G (p.Asn848Ser) c.2588A>G (p.Asn863Ser) c.22A>G | dbSNP |
5 | g.78039129T>G | CA360332028 | AP3B1 | c.2576A>C (p.Asn859Thr) n.523A>C c.2616A>C (n.2616A>C) c.1922A>C (p.Asn641Thr) c.*2485A>C (n.*2485A>C) c.2666A>C (p.Asn889Thr) c.2717A>C (p.Asn906Thr) n.438A>C c.2723A>C (p.Asn908Thr) n.2881A>C n.375A>C c.*248A>C (n.*248A>C) c.2543A>C (p.Asn848Thr) c.2588A>C (p.Asn863Thr) c.22A>C | |
5 | g.78039129T= | CA1557269227 | AP3B1 | c.2576A= (p.Asn859=) n.523A= c.2616A= (n.2616A=) c.1922A= (p.Asn641=) c.*2485A= (n.*2485A=) c.2666A= (p.Asn889=) c.2717A= (p.Asn906=) n.438A= c.2723A= (p.Asn908=) n.2881A= n.375A= c.*248A= (n.*248A=) c.2543A= (p.Asn848=) c.2588A= (p.Asn863=) c.22A= | |
5 | g.78039130T>A | CA360332029 | AP3B1 | c.2575A>T (p.Asn859Tyr) n.522A>T c.2615A>T (n.2615A>T) c.1921A>T (p.Asn641Tyr) c.*2484A>T (n.*2484A>T) c.2665A>T (p.Asn889Tyr) c.2716A>T (p.Asn906Tyr) n.437A>T c.2722A>T (p.Asn908Tyr) n.2880A>T n.374A>T c.*247A>T (n.*247A>T) c.2542A>T (p.Asn848Tyr) c.2587A>T (p.Asn863Tyr) c.21A>T | |
5 | g.78039130T>C | CA360332030 | AP3B1 | c.2575A>G (p.Asn859Asp) n.522A>G c.2615A>G (n.2615A>G) c.1921A>G (p.Asn641Asp) c.*2484A>G (n.*2484A>G) c.2665A>G (p.Asn889Asp) c.2716A>G (p.Asn906Asp) n.437A>G c.2722A>G (p.Asn908Asp) n.2880A>G n.374A>G c.*247A>G (n.*247A>G) c.2542A>G (p.Asn848Asp) c.2587A>G (p.Asn863Asp) c.21A>G | |
5 | g.78039130T>G | CA360332031 | AP3B1 | c.2575A>C (p.Asn859His) n.522A>C c.2615A>C (n.2615A>C) c.1921A>C (p.Asn641His) c.*2484A>C (n.*2484A>C) c.2665A>C (p.Asn889His) c.2716A>C (p.Asn906His) n.437A>C c.2722A>C (p.Asn908His) n.2880A>C n.374A>C c.*247A>C (n.*247A>C) c.2542A>C (p.Asn848His) c.2587A>C (p.Asn863His) c.21A>C | |
5 | g.78039131A>C | CA360332032 | AP3B1 | c.2574T>G (p.Asn858Lys) n.521T>G c.2614T>G (n.2614T>G) c.1920T>G (p.Asn640Lys) c.*2483T>G (n.*2483T>G) c.2664T>G (p.Asn888Lys) c.2715T>G (p.Asn905Lys) n.436T>G c.2721T>G (p.Asn907Lys) n.2879T>G n.373T>G c.*246T>G (n.*246T>G) c.2541T>G (p.Asn847Lys) c.2586T>G (p.Asn862Lys) c.20T>G | |
5 | g.78039131A>G | CA445400201 | AP3B1 | c.2574T>C (p.Asn858=) n.521T>C c.2614T>C (n.2614T>C) c.1920T>C (p.Asn640=) c.*2483T>C (n.*2483T>C) c.2664T>C (p.Asn888=) c.2715T>C (p.Asn905=) n.436T>C c.2721T>C (p.Asn907=) n.2879T>C n.373T>C c.*246T>C (n.*246T>C) c.2541T>C (p.Asn847=) c.2586T>C (p.Asn862=) c.20T>C | |
5 | g.78039131A>T | CA360332033 | AP3B1 | c.2574T>A (p.Asn858Lys) n.521T>A c.2614T>A (n.2614T>A) c.1920T>A (p.Asn640Lys) c.*2483T>A (n.*2483T>A) c.2664T>A (p.Asn888Lys) c.2715T>A (p.Asn905Lys) n.436T>A c.2721T>A (p.Asn907Lys) n.2879T>A n.373T>A c.*246T>A (n.*246T>A) c.2541T>A (p.Asn847Lys) c.2586T>A (p.Asn862Lys) c.20T>A | gnomAD v4 |
5 | g.78039132T>A | CA360332034 | AP3B1 | c.2573A>T (p.Asn858Ile) n.520A>T c.2613A>T (n.2613A>T) c.1919A>T (p.Asn640Ile) c.*2482A>T (n.*2482A>T) c.2663A>T (p.Asn888Ile) c.2714A>T (p.Asn905Ile) n.435A>T c.2720A>T (p.Asn907Ile) n.2878A>T n.372A>T c.*245A>T (n.*245A>T) c.2540A>T (p.Asn847Ile) c.2585A>T (p.Asn862Ile) c.19A>T | |
5 | g.78039132T>C | CA3316696 | AP3B1 | c.2573A>G (p.Asn858Ser) n.520A>G c.2613A>G (n.2613A>G) c.1919A>G (p.Asn640Ser) c.*2482A>G (n.*2482A>G) c.2663A>G (p.Asn888Ser) c.2714A>G (p.Asn905Ser) n.435A>G c.2720A>G (p.Asn907Ser) n.2878A>G n.372A>G c.*245A>G (n.*245A>G) c.2540A>G (p.Asn847Ser) c.2585A>G (p.Asn862Ser) c.19A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039132T>G | CA360332035 | AP3B1 | c.2573A>C (p.Asn858Thr) n.520A>C c.2613A>C (n.2613A>C) c.1919A>C (p.Asn640Thr) c.*2482A>C (n.*2482A>C) c.2663A>C (p.Asn888Thr) c.2714A>C (p.Asn905Thr) n.435A>C c.2720A>C (p.Asn907Thr) n.2878A>C n.372A>C c.*245A>C (n.*245A>C) c.2540A>C (p.Asn847Thr) c.2585A>C (p.Asn862Thr) c.19A>C | |
5 | g.78039132T= | CA1557269229 | AP3B1 | c.2573A= (p.Asn858=) n.520A= c.2613A= (n.2613A=) c.1919A= (p.Asn640=) c.*2482A= (n.*2482A=) c.2663A= (p.Asn888=) c.2714A= (p.Asn905=) n.435A= c.2720A= (p.Asn907=) n.2878A= n.372A= c.*245A= (n.*245A=) c.2540A= (p.Asn847=) c.2585A= (p.Asn862=) c.19A= | |
5 | g.78039133T>A | CA360332036 | AP3B1 | c.2572A>T (p.Asn858Tyr) n.519A>T c.2612A>T (n.2612A>T) c.1918A>T (p.Asn640Tyr) c.*2481A>T (n.*2481A>T) c.2662A>T (p.Asn888Tyr) c.2713A>T (p.Asn905Tyr) n.434A>T c.2719A>T (p.Asn907Tyr) n.2877A>T n.371A>T c.*244A>T (n.*244A>T) c.2539A>T (p.Asn847Tyr) c.2584A>T (p.Asn862Tyr) c.18A>T | |
5 | g.78039133T>C | CA360332038 | AP3B1 | c.2572A>G (p.Asn858Asp) n.519A>G c.2612A>G (n.2612A>G) c.1918A>G (p.Asn640Asp) c.*2481A>G (n.*2481A>G) c.2662A>G (p.Asn888Asp) c.2713A>G (p.Asn905Asp) n.434A>G c.2719A>G (p.Asn907Asp) n.2877A>G n.371A>G c.*244A>G (n.*244A>G) c.2539A>G (p.Asn847Asp) c.2584A>G (p.Asn862Asp) c.18A>G | |
5 | g.78039133T>G | CA360332037 | AP3B1 | c.2572A>C (p.Asn858His) n.519A>C c.2612A>C (n.2612A>C) c.1918A>C (p.Asn640His) c.*2481A>C (n.*2481A>C) c.2662A>C (p.Asn888His) c.2713A>C (p.Asn905His) n.434A>C c.2719A>C (p.Asn907His) n.2877A>C n.371A>C c.*244A>C (n.*244A>C) c.2539A>C (p.Asn847His) c.2584A>C (p.Asn862His) c.18A>C | |
5 | g.78039134C>A | CA445400211 | AP3B1 | c.2571G>T (p.Leu857=) n.518G>T c.2611G>T (n.2611G>T) c.1917G>T (p.Leu639=) c.*2480G>T (n.*2480G>T) c.2661G>T (p.Leu887=) c.2712G>T (p.Leu904=) n.433G>T c.2718G>T (p.Leu906=) n.2876G>T n.370G>T c.*243G>T (n.*243G>T) c.2538G>T (p.Leu846=) c.2583G>T (p.Leu861=) c.17G>T | |
5 | g.78039134C>G | CA445400205 | AP3B1 | c.2571G>C (p.Leu857=) n.518G>C c.2611G>C (n.2611G>C) c.1917G>C (p.Leu639=) c.*2480G>C (n.*2480G>C) c.2661G>C (p.Leu887=) c.2712G>C (p.Leu904=) n.433G>C c.2718G>C (p.Leu906=) n.2876G>C n.370G>C c.*243G>C (n.*243G>C) c.2538G>C (p.Leu846=) c.2583G>C (p.Leu861=) c.17G>C | |
5 | g.78039134C>T | CA445400208 | AP3B1 | c.2571G>A (p.Leu857=) n.518G>A c.2611G>A (n.2611G>A) c.1917G>A (p.Leu639=) c.*2480G>A (n.*2480G>A) c.2661G>A (p.Leu887=) c.2712G>A (p.Leu904=) n.433G>A c.2718G>A (p.Leu906=) n.2876G>A n.370G>A c.*243G>A (n.*243G>A) c.2538G>A (p.Leu846=) c.2583G>A (p.Leu861=) c.17G>A | |
5 | g.78039135A>C | CA360332039 | AP3B1 | c.2570T>G (p.Leu857Arg) n.517T>G c.2610T>G (n.2610T>G) c.1916T>G (p.Leu639Arg) c.*2479T>G (n.*2479T>G) c.2660T>G (p.Leu887Arg) c.2711T>G (p.Leu904Arg) n.432T>G c.2717T>G (p.Leu906Arg) n.2875T>G n.369T>G c.*242T>G (n.*242T>G) c.2537T>G (p.Leu846Arg) c.2582T>G (p.Leu861Arg) c.16T>G | |
5 | g.78039135A>G | CA360332040 | AP3B1 | c.2570T>C (p.Leu857Pro) n.517T>C c.2610T>C (n.2610T>C) c.1916T>C (p.Leu639Pro) c.*2479T>C (n.*2479T>C) c.2660T>C (p.Leu887Pro) c.2711T>C (p.Leu904Pro) n.432T>C c.2717T>C (p.Leu906Pro) n.2875T>C n.369T>C c.*242T>C (n.*242T>C) c.2537T>C (p.Leu846Pro) c.2582T>C (p.Leu861Pro) c.16T>C | gnomAD v4 |
5 | g.78039135A>T | CA360332041 | AP3B1 | c.2570T>A (p.Leu857Gln) n.517T>A c.2610T>A (n.2610T>A) c.1916T>A (p.Leu639Gln) c.*2479T>A (n.*2479T>A) c.2660T>A (p.Leu887Gln) c.2711T>A (p.Leu904Gln) n.432T>A c.2717T>A (p.Leu906Gln) n.2875T>A n.369T>A c.*242T>A (n.*242T>A) c.2537T>A (p.Leu846Gln) c.2582T>A (p.Leu861Gln) c.16T>A | |
5 | g.78039136G>A | CA445400212 | AP3B1 | c.2569C>T (p.Leu857=) n.516C>T c.2609C>T (n.2609C>T) c.1915C>T (p.Leu639=) c.*2478C>T (n.*2478C>T) c.2659C>T (p.Leu887=) c.2710C>T (p.Leu904=) n.431C>T c.2716C>T (p.Leu906=) n.2874C>T n.368C>T c.*241C>T (n.*241C>T) c.2536C>T (p.Leu846=) c.2581C>T (p.Leu861=) c.15C>T | |
5 | g.78039136G>C | CA360332042 | AP3B1 | c.2569C>G (p.Leu857Val) n.516C>G c.2609C>G (n.2609C>G) c.1915C>G (p.Leu639Val) c.*2478C>G (n.*2478C>G) c.2659C>G (p.Leu887Val) c.2710C>G (p.Leu904Val) n.431C>G c.2716C>G (p.Leu906Val) n.2874C>G n.368C>G c.*241C>G (n.*241C>G) c.2536C>G (p.Leu846Val) c.2581C>G (p.Leu861Val) c.15C>G | |
5 | g.78039136G>T | CA360332043 | AP3B1 | c.2569C>A (p.Leu857Met) n.516C>A c.2609C>A (n.2609C>A) c.1915C>A (p.Leu639Met) c.*2478C>A (n.*2478C>A) c.2659C>A (p.Leu887Met) c.2710C>A (p.Leu904Met) n.431C>A c.2716C>A (p.Leu906Met) n.2874C>A n.368C>A c.*241C>A (n.*241C>A) c.2536C>A (p.Leu846Met) c.2581C>A (p.Leu861Met) c.15C>A | |
5 | g.78039137T>A | CA445400213 | AP3B1 | c.2568A>T (p.Thr856=) n.515A>T c.2608A>T (n.2608A>T) c.1914A>T (p.Thr638=) c.*2477A>T (n.*2477A>T) c.2658A>T (p.Thr886=) c.2709A>T (p.Thr903=) n.430A>T c.2715A>T (p.Thr905=) n.2873A>T n.367A>T c.*240A>T (n.*240A>T) c.2535A>T (p.Thr845=) c.2580A>T (p.Thr860=) c.14A>T | |
5 | g.78039137T>C | CA445400214 | AP3B1 | c.2568A>G (p.Thr856=) n.515A>G c.2608A>G (n.2608A>G) c.1914A>G (p.Thr638=) c.*2477A>G (n.*2477A>G) c.2658A>G (p.Thr886=) c.2709A>G (p.Thr903=) n.430A>G c.2715A>G (p.Thr905=) n.2873A>G n.367A>G c.*240A>G (n.*240A>G) c.2535A>G (p.Thr845=) c.2580A>G (p.Thr860=) c.14A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039137T>G | CA445400215 | AP3B1 | c.2568A>C (p.Thr856=) n.515A>C c.2608A>C (n.2608A>C) c.1914A>C (p.Thr638=) c.*2477A>C (n.*2477A>C) c.2658A>C (p.Thr886=) c.2709A>C (p.Thr903=) n.430A>C c.2715A>C (p.Thr905=) n.2873A>C n.367A>C c.*240A>C (n.*240A>C) c.2535A>C (p.Thr845=) c.2580A>C (p.Thr860=) c.14A>C | |
5 | g.78039137T= | CA1557269232 | AP3B1 | c.2568A= (p.Thr856=) n.515A= c.2608A= (n.2608A=) c.1914A= (p.Thr638=) c.*2477A= (n.*2477A=) c.2658A= (p.Thr886=) c.2709A= (p.Thr903=) n.430A= c.2715A= (p.Thr905=) n.2873A= n.367A= c.*240A= (n.*240A=) c.2535A= (p.Thr845=) c.2580A= (p.Thr860=) c.14A= | |
5 | g.78039138G>A | CA360332044 | AP3B1 | c.2567C>T (p.Thr856Ile) n.514C>T c.2607C>T (n.2607C>T) c.1913C>T (p.Thr638Ile) c.*2476C>T (n.*2476C>T) c.2657C>T (p.Thr886Ile) c.2708C>T (p.Thr903Ile) n.429C>T c.2714C>T (p.Thr905Ile) n.2872C>T n.366C>T c.*239C>T (n.*239C>T) c.2534C>T (p.Thr845Ile) c.2579C>T (p.Thr860Ile) c.13C>T | |
5 | g.78039138G>C | CA360332045 | AP3B1 | c.2567C>G (p.Thr856Arg) n.514C>G c.2607C>G (n.2607C>G) c.1913C>G (p.Thr638Arg) c.*2476C>G (n.*2476C>G) c.2657C>G (p.Thr886Arg) c.2708C>G (p.Thr903Arg) n.429C>G c.2714C>G (p.Thr905Arg) n.2872C>G n.366C>G c.*239C>G (n.*239C>G) c.2534C>G (p.Thr845Arg) c.2579C>G (p.Thr860Arg) c.13C>G | |
5 | g.78039138G>T | CA360332046 | AP3B1 | c.2567C>A (p.Thr856Lys) n.514C>A c.2607C>A (n.2607C>A) c.1913C>A (p.Thr638Lys) c.*2476C>A (n.*2476C>A) c.2657C>A (p.Thr886Lys) c.2708C>A (p.Thr903Lys) n.429C>A c.2714C>A (p.Thr905Lys) n.2872C>A n.366C>A c.*239C>A (n.*239C>A) c.2534C>A (p.Thr845Lys) c.2579C>A (p.Thr860Lys) c.13C>A | |
5 | g.78039139T>A | CA360332047 | AP3B1 | c.2566A>T (p.Thr856Ser) n.513A>T c.2606A>T (n.2606A>T) c.1912A>T (p.Thr638Ser) c.*2475A>T (n.*2475A>T) c.2656A>T (p.Thr886Ser) c.2707A>T (p.Thr903Ser) n.428A>T c.2713A>T (p.Thr905Ser) n.2871A>T n.365A>T c.*238A>T (n.*238A>T) c.2533A>T (p.Thr845Ser) c.2578A>T (p.Thr860Ser) c.12A>T | |
5 | g.78039139T>C | CA360332048 | AP3B1 | c.2566A>G (p.Thr856Ala) n.513A>G c.2606A>G (n.2606A>G) c.1912A>G (p.Thr638Ala) c.*2475A>G (n.*2475A>G) c.2656A>G (p.Thr886Ala) c.2707A>G (p.Thr903Ala) n.428A>G c.2713A>G (p.Thr905Ala) n.2871A>G n.365A>G c.*238A>G (n.*238A>G) c.2533A>G (p.Thr845Ala) c.2578A>G (p.Thr860Ala) c.12A>G | |
5 | g.78039139T>G | CA360332049 | AP3B1 | c.2566A>C (p.Thr856Pro) n.513A>C c.2606A>C (n.2606A>C) c.1912A>C (p.Thr638Pro) c.*2475A>C (n.*2475A>C) c.2656A>C (p.Thr886Pro) c.2707A>C (p.Thr903Pro) n.428A>C c.2713A>C (p.Thr905Pro) n.2871A>C n.365A>C c.*238A>C (n.*238A>C) c.2533A>C (p.Thr845Pro) c.2578A>C (p.Thr860Pro) c.12A>C | |
5 | g.78039140T>A | CA445400225 | AP3B1 | c.2565A>T (p.Ile855=) n.512A>T c.2605A>T (n.2605A>T) c.1911A>T (p.Ile637=) c.*2474A>T (n.*2474A>T) c.2655A>T (p.Ile885=) c.2706A>T (p.Ile902=) n.427A>T c.2712A>T (p.Ile904=) n.2870A>T n.364A>T c.*237A>T (n.*237A>T) c.2532A>T (p.Ile844=) c.2577A>T (p.Ile859=) c.11A>T | |
5 | g.78039140T>C | CA360332050 | AP3B1 | c.2565A>G (p.Ile855Met) n.512A>G c.2605A>G (n.2605A>G) c.1911A>G (p.Ile637Met) c.*2474A>G (n.*2474A>G) c.2655A>G (p.Ile885Met) c.2706A>G (p.Ile902Met) n.427A>G c.2712A>G (p.Ile904Met) n.2870A>G n.364A>G c.*237A>G (n.*237A>G) c.2532A>G (p.Ile844Met) c.2577A>G (p.Ile859Met) c.11A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039140T>G | CA445400227 | AP3B1 | c.2565A>C (p.Ile855=) n.512A>C c.2605A>C (n.2605A>C) c.1911A>C (p.Ile637=) c.*2474A>C (n.*2474A>C) c.2655A>C (p.Ile885=) c.2706A>C (p.Ile902=) n.427A>C c.2712A>C (p.Ile904=) n.2870A>C n.364A>C c.*237A>C (n.*237A>C) c.2532A>C (p.Ile844=) c.2577A>C (p.Ile859=) c.11A>C | |
5 | g.78039140T= | CA1557269234 | AP3B1 | c.2565A= (p.Ile855=) n.512A= c.2605A= (n.2605A=) c.1911A= (p.Ile637=) c.*2474A= (n.*2474A=) c.2655A= (p.Ile885=) c.2706A= (p.Ile902=) n.427A= c.2712A= (p.Ile904=) n.2870A= n.364A= c.*237A= (n.*237A=) c.2532A= (p.Ile844=) c.2577A= (p.Ile859=) c.11A= | |
5 | g.78039141_78039159del | CA2499217907 | AP3B1 | c.2547_2565del (p.Met850HisfsTer2) n.494_512del c.2587_2605del (n.2587_2605del) c.1893_1911del (p.Met632HisfsTer2) c.*2456_*2474del (n.*2456_*2474del) c.2637_2655del (p.Met880HisfsTer2) c.2688_2706del (p.Met897HisfsTer2) n.409_427del c.2694_2712del (p.Met899HisfsTer2) n.2852_2870del n.346_364del c.*219_*237del (n.*219_*237del) c.2514_2532del (p.Met839HisfsTer2) c.2559_2577del (p.Met854HisfsTer2) | ClinVar dbSNP |
5 | g.78039141A>C | CA360332053 | AP3B1 | c.2564T>G (p.Ile855Arg) n.511T>G c.2604T>G (n.2604T>G) c.1910T>G (p.Ile637Arg) c.*2473T>G (n.*2473T>G) c.2654T>G (p.Ile885Arg) c.2705T>G (p.Ile902Arg) n.426T>G c.2711T>G (p.Ile904Arg) n.2869T>G n.363T>G c.*236T>G (n.*236T>G) c.2531T>G (p.Ile844Arg) c.2576T>G (p.Ile859Arg) c.10T>G | |
5 | g.78039141A>G | CA360332051 | AP3B1 | c.2564T>C (p.Ile855Thr) n.511T>C c.2604T>C (n.2604T>C) c.1910T>C (p.Ile637Thr) c.*2473T>C (n.*2473T>C) c.2654T>C (p.Ile885Thr) c.2705T>C (p.Ile902Thr) n.426T>C c.2711T>C (p.Ile904Thr) n.2869T>C n.363T>C c.*236T>C (n.*236T>C) c.2531T>C (p.Ile844Thr) c.2576T>C (p.Ile859Thr) c.10T>C | |
5 | g.78039141A>T | CA360332052 | AP3B1 | c.2564T>A (p.Ile855Lys) n.511T>A c.2604T>A (n.2604T>A) c.1910T>A (p.Ile637Lys) c.*2473T>A (n.*2473T>A) c.2654T>A (p.Ile885Lys) c.2705T>A (p.Ile902Lys) n.426T>A c.2711T>A (p.Ile904Lys) n.2869T>A n.363T>A c.*236T>A (n.*236T>A) c.2531T>A (p.Ile844Lys) c.2576T>A (p.Ile859Lys) c.10T>A | |
5 | g.78039142T>A | CA360332054 | AP3B1 | c.2563A>T (p.Ile855Leu) n.510A>T c.2603A>T (n.2603A>T) c.1909A>T (p.Ile637Leu) c.*2472A>T (n.*2472A>T) c.2653A>T (p.Ile885Leu) c.2704A>T (p.Ile902Leu) n.425A>T c.2710A>T (p.Ile904Leu) n.2868A>T n.362A>T c.*235A>T (n.*235A>T) c.2530A>T (p.Ile844Leu) c.2575A>T (p.Ile859Leu) c.9A>T | |
5 | g.78039142T>C | CA360332055 | AP3B1 | c.2563A>G (p.Ile855Val) n.510A>G c.2603A>G (n.2603A>G) c.1909A>G (p.Ile637Val) c.*2472A>G (n.*2472A>G) c.2653A>G (p.Ile885Val) c.2704A>G (p.Ile902Val) n.425A>G c.2710A>G (p.Ile904Val) n.2868A>G n.362A>G c.*235A>G (n.*235A>G) c.2530A>G (p.Ile844Val) c.2575A>G (p.Ile859Val) c.9A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.78039142T>G | CA360332056 | AP3B1 | c.2563A>C (p.Ile855Leu) n.510A>C c.2603A>C (n.2603A>C) c.1909A>C (p.Ile637Leu) c.*2472A>C (n.*2472A>C) c.2653A>C (p.Ile885Leu) c.2704A>C (p.Ile902Leu) n.425A>C c.2710A>C (p.Ile904Leu) n.2868A>C n.362A>C c.*235A>C (n.*235A>C) c.2530A>C (p.Ile844Leu) c.2575A>C (p.Ile859Leu) c.9A>C | |
5 | g.78039142T= | CA1557269238 | AP3B1 | c.2563A= (p.Ile855=) n.510A= c.2603A= (n.2603A=) c.1909A= (p.Ile637=) c.*2472A= (n.*2472A=) c.2653A= (p.Ile885=) c.2704A= (p.Ile902=) n.425A= c.2710A= (p.Ile904=) n.2868A= n.362A= c.*235A= (n.*235A=) c.2530A= (p.Ile844=) c.2575A= (p.Ile859=) c.9A= | |
5 | g.78039143T>A | CA360332057 | AP3B1 | c.2562A>T (p.Gln854His) n.509A>T c.2602A>T (n.2602A>T) c.1908A>T (p.Gln636His) c.*2471A>T (n.*2471A>T) c.2652A>T (p.Gln884His) c.2703A>T (p.Gln901His) n.424A>T c.2709A>T (p.Gln903His) n.2867A>T n.361A>T c.*234A>T (n.*234A>T) c.2529A>T (p.Gln843His) c.2574A>T (p.Gln858His) c.8A>T | |
5 | g.78039143T>C | CA3316697 | AP3B1 | c.2562A>G (p.Gln854=) n.509A>G c.2602A>G (n.2602A>G) c.1908A>G (p.Gln636=) c.*2471A>G (n.*2471A>G) c.2652A>G (p.Gln884=) c.2703A>G (p.Gln901=) n.424A>G c.2709A>G (p.Gln903=) n.2867A>G n.361A>G c.*234A>G (n.*234A>G) c.2529A>G (p.Gln843=) c.2574A>G (p.Gln858=) c.8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039143T>G | CA360332058 | AP3B1 | c.2562A>C (p.Gln854His) n.509A>C c.2602A>C (n.2602A>C) c.1908A>C (p.Gln636His) c.*2471A>C (n.*2471A>C) c.2652A>C (p.Gln884His) c.2703A>C (p.Gln901His) n.424A>C c.2709A>C (p.Gln903His) n.2867A>C n.361A>C c.*234A>C (n.*234A>C) c.2529A>C (p.Gln843His) c.2574A>C (p.Gln858His) c.8A>C | |
5 | g.78039143T= | CA1557269241 | AP3B1 | c.2562A= (p.Gln854=) n.509A= c.2602A= (n.2602A=) c.1908A= (p.Gln636=) c.*2471A= (n.*2471A=) c.2652A= (p.Gln884=) c.2703A= (p.Gln901=) n.424A= c.2709A= (p.Gln903=) n.2867A= n.361A= c.*234A= (n.*234A=) c.2529A= (p.Gln843=) c.2574A= (p.Gln858=) c.8A= | |
5 | g.78039144T>A | CA360332059 | AP3B1 | c.2561A>T (p.Gln854Leu) n.508A>T c.2601A>T (n.2601A>T) c.1907A>T (p.Gln636Leu) c.*2470A>T (n.*2470A>T) c.2651A>T (p.Gln884Leu) c.2702A>T (p.Gln901Leu) n.423A>T c.2708A>T (p.Gln903Leu) n.2866A>T n.360A>T c.*233A>T (n.*233A>T) c.2528A>T (p.Gln843Leu) c.2573A>T (p.Gln858Leu) c.7A>T | |
5 | g.78039144T>C | CA360332060 | AP3B1 | c.2561A>G (p.Gln854Arg) n.508A>G c.2601A>G (n.2601A>G) c.1907A>G (p.Gln636Arg) c.*2470A>G (n.*2470A>G) c.2651A>G (p.Gln884Arg) c.2702A>G (p.Gln901Arg) n.423A>G c.2708A>G (p.Gln903Arg) n.2866A>G n.360A>G c.*233A>G (n.*233A>G) c.2528A>G (p.Gln843Arg) c.2573A>G (p.Gln858Arg) c.7A>G | |
5 | g.78039144T>G | CA360332061 | AP3B1 | c.2561A>C (p.Gln854Pro) n.508A>C c.2601A>C (n.2601A>C) c.1907A>C (p.Gln636Pro) c.*2470A>C (n.*2470A>C) c.2651A>C (p.Gln884Pro) c.2702A>C (p.Gln901Pro) n.423A>C c.2708A>C (p.Gln903Pro) n.2866A>C n.360A>C c.*233A>C (n.*233A>C) c.2528A>C (p.Gln843Pro) c.2573A>C (p.Gln858Pro) c.7A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.78039144T= | CA1557269247 | AP3B1 | c.2561A= (p.Gln854=) n.508A= c.2601A= (n.2601A=) c.1907A= (p.Gln636=) c.*2470A= (n.*2470A=) c.2651A= (p.Gln884=) c.2702A= (p.Gln901=) n.423A= c.2708A= (p.Gln903=) n.2866A= n.360A= c.*233A= (n.*233A=) c.2528A= (p.Gln843=) c.2573A= (p.Gln858=) c.7A= | |
5 | g.78039145G>A | CA360332062 | AP3B1 | c.2560C>T (p.Gln854Ter) n.507C>T c.2600C>T (n.2600C>T) c.1906C>T (p.Gln636Ter) c.*2469C>T (n.*2469C>T) c.2650C>T (p.Gln884Ter) c.2701C>T (p.Gln901Ter) n.422C>T c.2707C>T (p.Gln903Ter) n.2865C>T n.359C>T c.*232C>T (n.*232C>T) c.2527C>T (p.Gln843Ter) c.2572C>T (p.Gln858Ter) c.6C>T | gnomAD v4 |
5 | g.78039145G>C | CA360332063 | AP3B1 | c.2560C>G (p.Gln854Glu) n.507C>G c.2600C>G (n.2600C>G) c.1906C>G (p.Gln636Glu) c.*2469C>G (n.*2469C>G) c.2650C>G (p.Gln884Glu) c.2701C>G (p.Gln901Glu) n.422C>G c.2707C>G (p.Gln903Glu) n.2865C>G n.359C>G c.*232C>G (n.*232C>G) c.2527C>G (p.Gln843Glu) c.2572C>G (p.Gln858Glu) c.6C>G | |
5 | g.78039145G>T | CA360332064 | AP3B1 | c.2560C>A (p.Gln854Lys) n.507C>A c.2600C>A (n.2600C>A) c.1906C>A (p.Gln636Lys) c.*2469C>A (n.*2469C>A) c.2650C>A (p.Gln884Lys) c.2701C>A (p.Gln901Lys) n.422C>A c.2707C>A (p.Gln903Lys) n.2865C>A n.359C>A c.*232C>A (n.*232C>A) c.2527C>A (p.Gln843Lys) c.2572C>A (p.Gln858Lys) c.6C>A | |
5 | g.78039146T>A | CA445400237 | AP3B1 | c.2559A>T (p.Ile853=) n.506A>T c.2599A>T (n.2599A>T) c.1905A>T (p.Ile635=) c.*2468A>T (n.*2468A>T) c.2649A>T (p.Ile883=) c.2700A>T (p.Ile900=) n.421A>T c.2706A>T (p.Ile902=) n.2864A>T n.358A>T c.*231A>T (n.*231A>T) c.2526A>T (p.Ile842=) c.2571A>T (p.Ile857=) c.5A>T | |
5 | g.78039146T>C | CA360332065 | AP3B1 | c.2559A>G (p.Ile853Met) n.506A>G c.2599A>G (n.2599A>G) c.1905A>G (p.Ile635Met) c.*2468A>G (n.*2468A>G) c.2649A>G (p.Ile883Met) c.2700A>G (p.Ile900Met) n.421A>G c.2706A>G (p.Ile902Met) n.2864A>G n.358A>G c.*231A>G (n.*231A>G) c.2526A>G (p.Ile842Met) c.2571A>G (p.Ile857Met) c.5A>G | |
5 | g.78039146T>G | CA445400239 | AP3B1 | c.2559A>C (p.Ile853=) n.506A>C c.2599A>C (n.2599A>C) c.1905A>C (p.Ile635=) c.*2468A>C (n.*2468A>C) c.2649A>C (p.Ile883=) c.2700A>C (p.Ile900=) n.421A>C c.2706A>C (p.Ile902=) n.2864A>C n.358A>C c.*231A>C (n.*231A>C) c.2526A>C (p.Ile842=) c.2571A>C (p.Ile857=) c.5A>C | |
5 | g.78039147A>C | CA360332066 | AP3B1 | c.2558T>G (p.Ile853Arg) n.505T>G c.2598T>G (n.2598T>G) c.1904T>G (p.Ile635Arg) c.*2467T>G (n.*2467T>G) c.2648T>G (p.Ile883Arg) c.2699T>G (p.Ile900Arg) n.420T>G c.2705T>G (p.Ile902Arg) n.2863T>G n.357T>G c.*230T>G (n.*230T>G) c.2525T>G (p.Ile842Arg) c.2570T>G (p.Ile857Arg) c.4T>G | |
5 | g.78039147A>G | CA360332067 | AP3B1 | c.2558T>C (p.Ile853Thr) n.505T>C c.2598T>C (n.2598T>C) c.1904T>C (p.Ile635Thr) c.*2467T>C (n.*2467T>C) c.2648T>C (p.Ile883Thr) c.2699T>C (p.Ile900Thr) n.420T>C c.2705T>C (p.Ile902Thr) n.2863T>C n.357T>C c.*230T>C (n.*230T>C) c.2525T>C (p.Ile842Thr) c.2570T>C (p.Ile857Thr) c.4T>C | |
5 | g.78039147A>T | CA360332068 | AP3B1 | c.2558T>A (p.Ile853Lys) n.505T>A c.2598T>A (n.2598T>A) c.1904T>A (p.Ile635Lys) c.*2467T>A (n.*2467T>A) c.2648T>A (p.Ile883Lys) c.2699T>A (p.Ile900Lys) n.420T>A c.2705T>A (p.Ile902Lys) n.2863T>A n.357T>A c.*230T>A (n.*230T>A) c.2525T>A (p.Ile842Lys) c.2570T>A (p.Ile857Lys) c.4T>A | |
5 | g.78039148T>A | CA360332069 | AP3B1 | c.2557A>T (p.Ile853Leu) n.504A>T c.2597A>T (n.2597A>T) c.1903A>T (p.Ile635Leu) c.*2466A>T (n.*2466A>T) c.2647A>T (p.Ile883Leu) c.2698A>T (p.Ile900Leu) n.419A>T c.2704A>T (p.Ile902Leu) n.2862A>T n.356A>T c.*229A>T (n.*229A>T) c.2524A>T (p.Ile842Leu) c.2569A>T (p.Ile857Leu) c.3A>T | |
5 | g.78039148T>C | CA360332070 | AP3B1 | c.2557A>G (p.Ile853Val) n.504A>G c.2597A>G (n.2597A>G) c.1903A>G (p.Ile635Val) c.*2466A>G (n.*2466A>G) c.2647A>G (p.Ile883Val) c.2698A>G (p.Ile900Val) n.419A>G c.2704A>G (p.Ile902Val) n.2862A>G n.356A>G c.*229A>G (n.*229A>G) c.2524A>G (p.Ile842Val) c.2569A>G (p.Ile857Val) c.3A>G | gnomAD v4 |
5 | g.78039148T>G | CA360332071 | AP3B1 | c.2557A>C (p.Ile853Leu) n.504A>C c.2597A>C (n.2597A>C) c.1903A>C (p.Ile635Leu) c.*2466A>C (n.*2466A>C) c.2647A>C (p.Ile883Leu) c.2698A>C (p.Ile900Leu) n.419A>C c.2704A>C (p.Ile902Leu) n.2862A>C n.356A>C c.*229A>C (n.*229A>C) c.2524A>C (p.Ile842Leu) c.2569A>C (p.Ile857Leu) c.3A>C | |
5 | g.78039149A>C | CA445400245 | AP3B1 | c.2556T>G (p.Ser852=) n.503T>G c.2596T>G (n.2596T>G) c.1902T>G (p.Ser634=) c.*2465T>G (n.*2465T>G) c.2646T>G (p.Ser882=) c.2697T>G (p.Ser899=) n.418T>G c.2703T>G (p.Ser901=) n.2861T>G n.355T>G c.*228T>G (n.*228T>G) c.2523T>G (p.Ser841=) c.2568T>G (p.Ser856=) c.2T>G | |
5 | g.78039149A>G | CA445400246 | AP3B1 | c.2556T>C (p.Ser852=) n.503T>C c.2596T>C (n.2596T>C) c.1902T>C (p.Ser634=) c.*2465T>C (n.*2465T>C) c.2646T>C (p.Ser882=) c.2697T>C (p.Ser899=) n.418T>C c.2703T>C (p.Ser901=) n.2861T>C n.355T>C c.*228T>C (n.*228T>C) c.2523T>C (p.Ser841=) c.2568T>C (p.Ser856=) c.2T>C | |
5 | g.78039149A>T | CA445400248 | AP3B1 | c.2556T>A (p.Ser852=) n.503T>A c.2596T>A (n.2596T>A) c.1902T>A (p.Ser634=) c.*2465T>A (n.*2465T>A) c.2646T>A (p.Ser882=) c.2697T>A (p.Ser899=) n.418T>A c.2703T>A (p.Ser901=) n.2861T>A n.355T>A c.*228T>A (n.*228T>A) c.2523T>A (p.Ser841=) c.2568T>A (p.Ser856=) c.2T>A | |
5 | g.78039150G>A | CA360332072 | AP3B1 | c.2555C>T (p.Ser852Phe) n.502C>T c.2595C>T (n.2595C>T) c.1901C>T (p.Ser634Phe) c.*2464C>T (n.*2464C>T) c.2645C>T (p.Ser882Phe) c.2696C>T (p.Ser899Phe) n.417C>T c.2702C>T (p.Ser901Phe) n.2860C>T n.354C>T c.*227C>T (n.*227C>T) c.2522C>T (p.Ser841Phe) c.2567C>T (p.Ser856Phe) c.1C>T | |
5 | g.78039150G>C | CA354052 | AP3B1 | c.2555C>G (p.Ser852Cys) n.502C>G c.2595C>G (n.2595C>G) c.1901C>G (p.Ser634Cys) c.*2464C>G (n.*2464C>G) c.2645C>G (p.Ser882Cys) c.2696C>G (p.Ser899Cys) n.417C>G c.2702C>G (p.Ser901Cys) n.2860C>G n.354C>G c.*227C>G (n.*227C>G) c.2522C>G (p.Ser841Cys) c.2567C>G (p.Ser856Cys) c.1C>G | ClinVar dbSNP |
5 | g.78039150G= | CA1557269251 | AP3B1 | c.2555C= (p.Ser852=) n.502C= c.2595C= (n.2595C=) c.1901C= (p.Ser634=) c.*2464C= (n.*2464C=) c.2645C= (p.Ser882=) c.2696C= (p.Ser899=) n.417C= c.2702C= (p.Ser901=) n.2860C= n.354C= c.*227C= (n.*227C=) c.2522C= (p.Ser841=) c.2567C= (p.Ser856=) c.1C= | |
5 | g.78039150G>T | CA360332073 | AP3B1 | c.2555C>A (p.Ser852Tyr) n.502C>A c.2595C>A (n.2595C>A) c.1901C>A (p.Ser634Tyr) c.*2464C>A (n.*2464C>A) c.2645C>A (p.Ser882Tyr) c.2696C>A (p.Ser899Tyr) n.417C>A c.2702C>A (p.Ser901Tyr) n.2860C>A n.354C>A c.*227C>A (n.*227C>A) c.2522C>A (p.Ser841Tyr) c.2567C>A (p.Ser856Tyr) c.1C>A | |
5 | g.78039151A>C | CA360332074 | AP3B1 | c.2554T>G (p.Ser852Ala) n.501T>G c.2594T>G (n.2594T>G) c.1900T>G (p.Ser634Ala) c.*2463T>G (n.*2463T>G) c.2644T>G (p.Ser882Ala) c.2695T>G (p.Ser899Ala) n.416T>G c.2701T>G (p.Ser901Ala) n.2859T>G n.353T>G c.*226T>G (n.*226T>G) c.2521T>G (p.Ser841Ala) c.2566T>G (p.Ser856Ala) | |
5 | g.78039151A>G | CA360332075 | AP3B1 | c.2554T>C (p.Ser852Pro) n.501T>C c.2594T>C (n.2594T>C) c.1900T>C (p.Ser634Pro) c.*2463T>C (n.*2463T>C) c.2644T>C (p.Ser882Pro) c.2695T>C (p.Ser899Pro) n.416T>C c.2701T>C (p.Ser901Pro) n.2859T>C n.353T>C c.*226T>C (n.*226T>C) c.2521T>C (p.Ser841Pro) c.2566T>C (p.Ser856Pro) | |
5 | g.78039151A>T | CA360332076 | AP3B1 | c.2554T>A (p.Ser852Thr) n.501T>A c.2594T>A (n.2594T>A) c.1900T>A (p.Ser634Thr) c.*2463T>A (n.*2463T>A) c.2644T>A (p.Ser882Thr) c.2695T>A (p.Ser899Thr) n.416T>A c.2701T>A (p.Ser901Thr) n.2859T>A n.353T>A c.*226T>A (n.*226T>A) c.2521T>A (p.Ser841Thr) c.2566T>A (p.Ser856Thr) | |
5 | g.78039152G>A | CA3316698 | AP3B1 | c.2553C>T (p.Val851=) n.500C>T c.2593C>T (n.2593C>T) c.1899C>T (p.Val633=) c.*2462C>T (n.*2462C>T) c.2643C>T (p.Val881=) c.2694C>T (p.Val898=) n.415C>T c.2700C>T (p.Val900=) n.2858C>T n.352C>T c.*225C>T (n.*225C>T) c.2520C>T (p.Val840=) c.2565C>T (p.Val855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039152G>C | CA445400253 | AP3B1 | c.2553C>G (p.Val851=) n.500C>G c.2593C>G (n.2593C>G) c.1899C>G (p.Val633=) c.*2462C>G (n.*2462C>G) c.2643C>G (p.Val881=) c.2694C>G (p.Val898=) n.415C>G c.2700C>G (p.Val900=) n.2858C>G n.352C>G c.*225C>G (n.*225C>G) c.2520C>G (p.Val840=) c.2565C>G (p.Val855=) | |
5 | g.78039152G= | CA1557269256 | AP3B1 | c.2553C= (p.Val851=) n.500C= c.2593C= (n.2593C=) c.1899C= (p.Val633=) c.*2462C= (n.*2462C=) c.2643C= (p.Val881=) c.2694C= (p.Val898=) n.415C= c.2700C= (p.Val900=) n.2858C= n.352C= c.*225C= (n.*225C=) c.2520C= (p.Val840=) c.2565C= (p.Val855=) | |
5 | g.78039152G>T | CA445400254 | AP3B1 | c.2553C>A (p.Val851=) n.500C>A c.2593C>A (n.2593C>A) c.1899C>A (p.Val633=) c.*2462C>A (n.*2462C>A) c.2643C>A (p.Val881=) c.2694C>A (p.Val898=) n.415C>A c.2700C>A (p.Val900=) n.2858C>A n.352C>A c.*225C>A (n.*225C>A) c.2520C>A (p.Val840=) c.2565C>A (p.Val855=) | |
5 | g.78039153A>C | CA360332078 | AP3B1 | c.2552T>G (p.Val851Gly) n.499T>G c.2592T>G (n.2592T>G) c.1898T>G (p.Val633Gly) c.*2461T>G (n.*2461T>G) c.2642T>G (p.Val881Gly) c.2693T>G (p.Val898Gly) n.414T>G c.2699T>G (p.Val900Gly) n.2857T>G n.351T>G c.*224T>G (n.*224T>G) c.2519T>G (p.Val840Gly) c.2564T>G (p.Val855Gly) | |
5 | g.78039153A>G | CA360332079 | AP3B1 | c.2552T>C (p.Val851Ala) n.499T>C c.2592T>C (n.2592T>C) c.1898T>C (p.Val633Ala) c.*2461T>C (n.*2461T>C) c.2642T>C (p.Val881Ala) c.2693T>C (p.Val898Ala) n.414T>C c.2699T>C (p.Val900Ala) n.2857T>C n.351T>C c.*224T>C (n.*224T>C) c.2519T>C (p.Val840Ala) c.2564T>C (p.Val855Ala) | |
5 | g.78039153A>T | CA360332077 | AP3B1 | c.2552T>A (p.Val851Asp) n.499T>A c.2592T>A (n.2592T>A) c.1898T>A (p.Val633Asp) c.*2461T>A (n.*2461T>A) c.2642T>A (p.Val881Asp) c.2693T>A (p.Val898Asp) n.414T>A c.2699T>A (p.Val900Asp) n.2857T>A n.351T>A c.*224T>A (n.*224T>A) c.2519T>A (p.Val840Asp) c.2564T>A (p.Val855Asp) | |
5 | g.78039154C>A | CA360332082 | AP3B1 | c.2551G>T (p.Val851Phe) n.498G>T c.2591G>T (n.2591G>T) c.1897G>T (p.Val633Phe) c.*2460G>T (n.*2460G>T) c.2641G>T (p.Val881Phe) c.2692G>T (p.Val898Phe) n.413G>T c.2698G>T (p.Val900Phe) n.2856G>T n.350G>T c.*223G>T (n.*223G>T) c.2518G>T (p.Val840Phe) c.2563G>T (p.Val855Phe) | |
5 | g.78039154C>G | CA360332080 | AP3B1 | c.2551G>C (p.Val851Leu) n.498G>C c.2591G>C (n.2591G>C) c.1897G>C (p.Val633Leu) c.*2460G>C (n.*2460G>C) c.2641G>C (p.Val881Leu) c.2692G>C (p.Val898Leu) n.413G>C c.2698G>C (p.Val900Leu) n.2856G>C n.350G>C c.*223G>C (n.*223G>C) c.2518G>C (p.Val840Leu) c.2563G>C (p.Val855Leu) | |
5 | g.78039154C>T | CA360332081 | AP3B1 | c.2551G>A (p.Val851Ile) n.498G>A c.2591G>A (n.2591G>A) c.1897G>A (p.Val633Ile) c.*2460G>A (n.*2460G>A) c.2641G>A (p.Val881Ile) c.2692G>A (p.Val898Ile) n.413G>A c.2698G>A (p.Val900Ile) n.2856G>A n.350G>A c.*223G>A (n.*223G>A) c.2518G>A (p.Val840Ile) c.2563G>A (p.Val855Ile) | |
5 | g.78039155C>A | CA360332083 | AP3B1 | c.2550G>T (p.Met850Ile) n.497G>T c.2590G>T (n.2590G>T) c.1896G>T (p.Met632Ile) c.*2459G>T (n.*2459G>T) c.2640G>T (p.Met880Ile) c.2691G>T (p.Met897Ile) n.412G>T c.2697G>T (p.Met899Ile) n.2855G>T n.349G>T c.*222G>T (n.*222G>T) c.2517G>T (p.Met839Ile) c.2562G>T (p.Met854Ile) | |
5 | g.78039155C>G | CA360332084 | AP3B1 | c.2550G>C (p.Met850Ile) n.497G>C c.2590G>C (n.2590G>C) c.1896G>C (p.Met632Ile) c.*2459G>C (n.*2459G>C) c.2640G>C (p.Met880Ile) c.2691G>C (p.Met897Ile) n.412G>C c.2697G>C (p.Met899Ile) n.2855G>C n.349G>C c.*222G>C (n.*222G>C) c.2517G>C (p.Met839Ile) c.2562G>C (p.Met854Ile) | |
5 | g.78039155C>T | CA360332085 | AP3B1 | c.2550G>A (p.Met850Ile) n.497G>A c.2590G>A (n.2590G>A) c.1896G>A (p.Met632Ile) c.*2459G>A (n.*2459G>A) c.2640G>A (p.Met880Ile) c.2691G>A (p.Met897Ile) n.412G>A c.2697G>A (p.Met899Ile) n.2855G>A n.349G>A c.*222G>A (n.*222G>A) c.2517G>A (p.Met839Ile) c.2562G>A (p.Met854Ile) | |
5 | g.78039156A= | CA1557269262 | AP3B1 | c.2549T= (p.Met850=) n.496T= c.2589T= (n.2589T=) c.1895T= (p.Met632=) c.*2458T= (n.*2458T=) c.2639T= (p.Met880=) c.2690T= (p.Met897=) n.411T= c.2696T= (p.Met899=) n.2854T= n.348T= c.*221T= (n.*221T=) c.2516T= (p.Met839=) c.2561T= (p.Met854=) | |
5 | g.78039156A>C | CA360332088 | AP3B1 | c.2549T>G (p.Met850Arg) n.496T>G c.2589T>G (n.2589T>G) c.1895T>G (p.Met632Arg) c.*2458T>G (n.*2458T>G) c.2639T>G (p.Met880Arg) c.2690T>G (p.Met897Arg) n.411T>G c.2696T>G (p.Met899Arg) n.2854T>G n.348T>G c.*221T>G (n.*221T>G) c.2516T>G (p.Met839Arg) c.2561T>G (p.Met854Arg) | |
5 | g.78039156A>G | CA360332087 | AP3B1 | c.2549T>C (p.Met850Thr) n.496T>C c.2589T>C (n.2589T>C) c.1895T>C (p.Met632Thr) c.*2458T>C (n.*2458T>C) c.2639T>C (p.Met880Thr) c.2690T>C (p.Met897Thr) n.411T>C c.2696T>C (p.Met899Thr) n.2854T>C n.348T>C c.*221T>C (n.*221T>C) c.2516T>C (p.Met839Thr) c.2561T>C (p.Met854Thr) | |
5 | g.78039156A>T | CA360332086 | AP3B1 | c.2549T>A (p.Met850Lys) n.496T>A c.2589T>A (n.2589T>A) c.1895T>A (p.Met632Lys) c.*2458T>A (n.*2458T>A) c.2639T>A (p.Met880Lys) c.2690T>A (p.Met897Lys) n.411T>A c.2696T>A (p.Met899Lys) n.2854T>A n.348T>A c.*221T>A (n.*221T>A) c.2516T>A (p.Met839Lys) c.2561T>A (p.Met854Lys) | |
5 | g.78039156_78039157insGAT | CA3316699 | AP3B1 | c.2548_2549insATC (p.Met850delinsAsnLeu) n.495_496insATC c.2588_2589insATC (n.2588_2589insATC) c.1894_1895insATC (p.Met632delinsAsnLeu) c.*2457_*2458insATC (n.*2457_*2458insATC) c.2638_2639insATC (p.Met880delinsAsnLeu) c.2689_2690insATC (p.Met897delinsAsnLeu) n.410_411insATC c.2695_2696insATC (p.Met899delinsAsnLeu) n.2853_2854insATC n.347_348insATC c.*220_*221insATC (n.*220_*221insATC) c.2515_2516insATC (p.Met839delinsAsnLeu) c.2560_2561insATC (p.Met854delinsAsnLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78039157T>A | CA360332089 | AP3B1 | c.2548A>T (p.Met850Leu) n.495A>T c.2588A>T (n.2588A>T) c.1894A>T (p.Met632Leu) c.*2457A>T (n.*2457A>T) c.2638A>T (p.Met880Leu) c.2689A>T (p.Met897Leu) n.410A>T c.2695A>T (p.Met899Leu) n.2853A>T n.347A>T c.*220A>T (n.*220A>T) c.2515A>T (p.Met839Leu) c.2560A>T (p.Met854Leu) | gnomAD v4 |
5 | g.78039157T>C | CA360332090 | AP3B1 | c.2548A>G (p.Met850Val) n.495A>G c.2588A>G (n.2588A>G) c.1894A>G (p.Met632Val) c.*2457A>G (n.*2457A>G) c.2638A>G (p.Met880Val) c.2689A>G (p.Met897Val) n.410A>G c.2695A>G (p.Met899Val) n.2853A>G n.347A>G c.*220A>G (n.*220A>G) c.2515A>G (p.Met839Val) c.2560A>G (p.Met854Val) | gnomAD v4 |
5 | g.78039157T>G | CA360332091 | AP3B1 | c.2548A>C (p.Met850Leu) n.495A>C c.2588A>C (n.2588A>C) c.1894A>C (p.Met632Leu) c.*2457A>C (n.*2457A>C) c.2638A>C (p.Met880Leu) c.2689A>C (p.Met897Leu) n.410A>C c.2695A>C (p.Met899Leu) n.2853A>C n.347A>C c.*220A>C (n.*220A>C) c.2515A>C (p.Met839Leu) c.2560A>C (p.Met854Leu) | |
5 | g.78039158C>A | CA360332092 | AP3B1 | c.2547G>T (p.Lys849Asn) n.494G>T c.2587G>T (n.2587G>T) c.1893G>T (p.Lys631Asn) c.*2456G>T (n.*2456G>T) c.2637G>T (p.Lys879Asn) c.2688G>T (p.Lys896Asn) n.409G>T c.2694G>T (p.Lys898Asn) n.2852G>T n.346G>T c.*219G>T (n.*219G>T) c.2514G>T (p.Lys838Asn) c.2559G>T (p.Lys853Asn) | |
5 | g.78039158C>G | CA360332093 | AP3B1 | c.2547G>C (p.Lys849Asn) n.494G>C c.2587G>C (n.2587G>C) c.1893G>C (p.Lys631Asn) c.*2456G>C (n.*2456G>C) c.2637G>C (p.Lys879Asn) c.2688G>C (p.Lys896Asn) n.409G>C c.2694G>C (p.Lys898Asn) n.2852G>C n.346G>C c.*219G>C (n.*219G>C) c.2514G>C (p.Lys838Asn) c.2559G>C (p.Lys853Asn) | |
5 | g.78039158C>T | CA445400264 | AP3B1 | c.2547G>A (p.Lys849=) n.494G>A c.2587G>A (n.2587G>A) c.1893G>A (p.Lys631=) c.*2456G>A (n.*2456G>A) c.2637G>A (p.Lys879=) c.2688G>A (p.Lys896=) n.409G>A c.2694G>A (p.Lys898=) n.2852G>A n.346G>A c.*219G>A (n.*219G>A) c.2514G>A (p.Lys838=) c.2559G>A (p.Lys853=) | |
5 | g.78039159T>A | CA360332094 | AP3B1 | c.2546A>T (p.Lys849Met) n.493A>T c.2586A>T (n.2586A>T) c.1892A>T (p.Lys631Met) c.*2455A>T (n.*2455A>T) c.2636A>T (p.Lys879Met) c.2687A>T (p.Lys896Met) n.408A>T c.2693A>T (p.Lys898Met) n.2851A>T n.345A>T c.*218A>T (n.*218A>T) c.2513A>T (p.Lys838Met) c.2558A>T (p.Lys853Met) | |
5 | g.78039159T>C | CA360332096 | AP3B1 | c.2546A>G (p.Lys849Arg) n.493A>G c.2586A>G (n.2586A>G) c.1892A>G (p.Lys631Arg) c.*2455A>G (n.*2455A>G) c.2636A>G (p.Lys879Arg) c.2687A>G (p.Lys896Arg) n.408A>G c.2693A>G (p.Lys898Arg) n.2851A>G n.345A>G c.*218A>G (n.*218A>G) c.2513A>G (p.Lys838Arg) c.2558A>G (p.Lys853Arg) | |
5 | g.78039159T>G | CA360332095 | AP3B1 | c.2546A>C (p.Lys849Thr) n.493A>C c.2586A>C (n.2586A>C) c.1892A>C (p.Lys631Thr) c.*2455A>C (n.*2455A>C) c.2636A>C (p.Lys879Thr) c.2687A>C (p.Lys896Thr) n.408A>C c.2693A>C (p.Lys898Thr) n.2851A>C n.345A>C c.*218A>C (n.*218A>C) c.2513A>C (p.Lys838Thr) c.2558A>C (p.Lys853Thr) | |
5 | g.78039160T>A | CA360332097 | AP3B1 | c.2545A>T (p.Lys849Ter) n.492A>T c.2585A>T (n.2585A>T) c.1891A>T (p.Lys631Ter) c.*2454A>T (n.*2454A>T) c.2635A>T (p.Lys879Ter) c.2686A>T (p.Lys896Ter) n.407A>T c.2692A>T (p.Lys898Ter) n.2850A>T n.344A>T c.*217A>T (n.*217A>T) c.2512A>T (p.Lys838Ter) c.2557A>T (p.Lys853Ter) | |
5 | g.78039160T>C | CA360332098 | AP3B1 | c.2545A>G (p.Lys849Glu) n.492A>G c.2585A>G (n.2585A>G) c.1891A>G (p.Lys631Glu) c.*2454A>G (n.*2454A>G) c.2635A>G (p.Lys879Glu) c.2686A>G (p.Lys896Glu) n.407A>G c.2692A>G (p.Lys898Glu) n.2850A>G n.344A>G c.*217A>G (n.*217A>G) c.2512A>G (p.Lys838Glu) c.2557A>G (p.Lys853Glu) | |
5 | g.78039160T>G | CA360332099 | AP3B1 | c.2545A>C (p.Lys849Gln) n.492A>C c.2585A>C (n.2585A>C) c.1891A>C (p.Lys631Gln) c.*2454A>C (n.*2454A>C) c.2635A>C (p.Lys879Gln) c.2686A>C (p.Lys896Gln) n.407A>C c.2692A>C (p.Lys898Gln) n.2850A>C n.344A>C c.*217A>C (n.*217A>C) c.2512A>C (p.Lys838Gln) c.2557A>C (p.Lys853Gln) | |
5 | g.78039161A>C | CA360332100 | AP3B1 | c.2544T>G (p.Asp848Glu) n.491T>G c.2584T>G (n.2584T>G) c.1890T>G (p.Asp630Glu) c.*2453T>G (n.*2453T>G) c.2634T>G (p.Asp878Glu) c.2685T>G (p.Asp895Glu) n.406T>G c.2691T>G (p.Asp897Glu) n.2849T>G n.343T>G c.*216T>G (n.*216T>G) c.2511T>G (p.Asp837Glu) c.2556T>G (p.Asp852Glu) | |
5 | g.78039161A>G | CA445400268 | AP3B1 | c.2544T>C (p.Asp848=) n.491T>C c.2584T>C (n.2584T>C) c.1890T>C (p.Asp630=) c.*2453T>C (n.*2453T>C) c.2634T>C (p.Asp878=) c.2685T>C (p.Asp895=) n.406T>C c.2691T>C (p.Asp897=) n.2849T>C n.343T>C c.*216T>C (n.*216T>C) c.2511T>C (p.Asp837=) c.2556T>C (p.Asp852=) | |
5 | g.78039161A>T | CA360332101 | AP3B1 | c.2544T>A (p.Asp848Glu) n.491T>A c.2584T>A (n.2584T>A) c.1890T>A (p.Asp630Glu) c.*2453T>A (n.*2453T>A) c.2634T>A (p.Asp878Glu) c.2685T>A (p.Asp895Glu) n.406T>A c.2691T>A (p.Asp897Glu) n.2849T>A n.343T>A c.*216T>A (n.*216T>A) c.2511T>A (p.Asp837Glu) c.2556T>A (p.Asp852Glu) | |
5 | g.78039162T>A | CA3316700 | AP3B1 | c.2543A>T (p.Asp848Val) n.490A>T c.2583A>T (p.Ter861Cys) c.1889A>T (p.Asp630Val) c.*2452A>T (n.*2452A>T) c.2633A>T (p.Asp878Val) c.2684A>T (p.Asp895Val) n.405A>T c.2690A>T (p.Asp897Val) n.2848A>T n.342A>T c.*215A>T (n.*215A>T) c.2510A>T (p.Asp837Val) c.2555A>T (p.Asp852Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.78039162T>C | CA360332102 | AP3B1 | c.2543A>G (p.Asp848Gly) n.490A>G c.2583A>G (p.Ter861Trp) c.1889A>G (p.Asp630Gly) c.*2452A>G (n.*2452A>G) c.2633A>G (p.Asp878Gly) c.2684A>G (p.Asp895Gly) n.405A>G c.2690A>G (p.Asp897Gly) n.2848A>G n.342A>G c.*215A>G (n.*215A>G) c.2510A>G (p.Asp837Gly) c.2555A>G (p.Asp852Gly) | dbSNP |
5 | g.78039162T>G | CA360332103 | AP3B1 | c.2543A>C (p.Asp848Ala) n.490A>C c.2583A>C (p.Ter861Cys) c.1889A>C (p.Asp630Ala) c.*2452A>C (n.*2452A>C) c.2633A>C (p.Asp878Ala) c.2684A>C (p.Asp895Ala) n.405A>C c.2690A>C (p.Asp897Ala) n.2848A>C n.342A>C c.*215A>C (n.*215A>C) c.2510A>C (p.Asp837Ala) c.2555A>C (p.Asp852Ala) | |
5 | g.78039162T= | CA1557269268 | AP3B1 | c.2543A= (p.Asp848=) n.490A= c.2583A= (p.Ter861=) c.1889A= (p.Asp630=) c.*2452A= (n.*2452A=) c.2633A= (p.Asp878=) c.2684A= (p.Asp895=) n.405A= c.2690A= (p.Asp897=) n.2848A= n.342A= c.*215A= (n.*215A=) c.2510A= (p.Asp837=) c.2555A= (p.Asp852=) | |
5 | g.78039162_78039163delinsAA | CA2580073459 | AP3B1 | c.2542_2543delinsTT (p.Asp848Phe) n.489_490delinsTT c.2582_2583delinsTT (p.Ter861Phe) c.1888_1889delinsTT (p.Asp630Phe) c.*2451_*2452delinsTT (n.*2451_*2452delinsTT) c.2632_2633delinsTT (p.Asp878Phe) c.2683_2684delinsTT (p.Asp895Phe) n.404_405delinsTT c.2689_2690delinsTT (p.Asp897Phe) n.2847_2848delinsTT n.341_342delinsTT c.*214_*215delinsTT (n.*214_*215delinsTT) c.2509_2510delinsTT (p.Asp837Phe) c.2554_2555delinsTT (p.Asp852Phe) | ClinVar |
5 | g.78039163C>A | CA3316701 | AP3B1 | c.2542G>T (p.Asp848Tyr) n.489G>T c.2582G>T (p.Ter861Leu) c.1888G>T (p.Asp630Tyr) c.*2451G>T (n.*2451G>T) c.2632G>T (p.Asp878Tyr) c.2683G>T (p.Asp895Tyr) n.404G>T c.2689G>T (p.Asp897Tyr) n.2847G>T n.341G>T c.*214G>T (n.*214G>T) c.2509G>T (p.Asp837Tyr) c.2554G>T (p.Asp852Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.78039163C= | CA1557269273 | AP3B1 | c.2542G= (p.Asp848=) n.489G= c.2582G= (p.Ter861=) c.1888G= (p.Asp630=) c.*2451G= (n.*2451G=) c.2632G= (p.Asp878=) c.2683G= (p.Asp895=) n.404G= c.2689G= (p.Asp897=) n.2847G= n.341G= c.*214G= (n.*214G=) c.2509G= (p.Asp837=) c.2554G= (p.Asp852=) | |
5 | g.78039163C>G | CA360332104 | AP3B1 | c.2542G>C (p.Asp848His) n.489G>C c.2582G>C (p.Ter861Ser) c.1888G>C (p.Asp630His) c.*2451G>C (n.*2451G>C) c.2632G>C (p.Asp878His) c.2683G>C (p.Asp895His) n.404G>C c.2689G>C (p.Asp897His) n.2847G>C n.341G>C c.*214G>C (n.*214G>C) c.2509G>C (p.Asp837His) c.2554G>C (p.Asp852His) | COSMIC |
5 | g.78039163C>T | CA360332105 | AP3B1 | c.2542G>A (p.Asp848Asn) n.489G>A c.2582G>A (p.Ter861=) c.1888G>A (p.Asp630Asn) c.*2451G>A (n.*2451G>A) c.2632G>A (p.Asp878Asn) c.2683G>A (p.Asp895Asn) n.404G>A c.2689G>A (p.Asp897Asn) n.2847G>A n.341G>A c.*214G>A (n.*214G>A) c.2509G>A (p.Asp837Asn) c.2554G>A (p.Asp852Asn) |