Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.9763108_9769129del | CA915949116 | GRIN2A | c.2357-40_*41del c.1886-40_*247del n.1950-40_3686del c.1886-40_*41del c.2357-4181_*1806del c.1946-40_4025del n.1996-40_3732del c.1946-40_*247del c.2357-40_*247del c.2198-40_*41del c.2099-40_*41del c.2513-40_*41del c.2513-40_*247del | ClinVar |
16 | g.9764561T>A | CA394708919 | GRIN2A | c.2983A>T (p.Thr995Ser) c.2512A>T (p.Thr838Ser) n.2576A>T c.*353A>T (n.*353A>T) c.2572A>T (p.Thr858Ser) n.2622A>T c.2824A>T (p.Thr942Ser) c.2725A>T (p.Thr909Ser) c.3139A>T (p.Thr1047Ser) | dbSNP |
16 | g.9764561T>C | CA7896397 | GRIN2A | c.2983A>G (p.Thr995Ala) c.2512A>G (p.Thr838Ala) n.2576A>G c.*353A>G (n.*353A>G) c.2572A>G (p.Thr858Ala) n.2622A>G c.2824A>G (p.Thr942Ala) c.2725A>G (p.Thr909Ala) c.3139A>G (p.Thr1047Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764561T>G | CA394708921 | GRIN2A | c.2983A>C (p.Thr995Pro) c.2512A>C (p.Thr838Pro) n.2576A>C c.*353A>C (n.*353A>C) c.2572A>C (p.Thr858Pro) n.2622A>C c.2824A>C (p.Thr942Pro) c.2725A>C (p.Thr909Pro) c.3139A>C (p.Thr1047Pro) | dbSNP |
16 | g.9764561T= | CA2206693302 | GRIN2A | c.2983A= (p.Thr995=) c.2512A= (p.Thr838=) n.2576A= c.*353A= (n.*353A=) c.2572A= (p.Thr858=) n.2622A= c.2824A= (p.Thr942=) c.2725A= (p.Thr909=) c.3139A= (p.Thr1047=) | |
16 | g.9764562G>A | CA493693460 | GRIN2A | c.2982C>T (p.Asn994=) c.2511C>T (p.Asn837=) n.2575C>T c.*352C>T (n.*352C>T) c.2571C>T (p.Asn857=) n.2621C>T c.2823C>T (p.Asn941=) c.2724C>T (p.Asn908=) c.3138C>T (p.Asn1046=) | gnomAD v4 |
16 | g.9764562G>C | CA394708922 | GRIN2A | c.2982C>G (p.Asn994Lys) c.2511C>G (p.Asn837Lys) n.2575C>G c.*352C>G (n.*352C>G) c.2571C>G (p.Asn857Lys) n.2621C>G c.2823C>G (p.Asn941Lys) c.2724C>G (p.Asn908Lys) c.3138C>G (p.Asn1046Lys) | dbSNP |
16 | g.9764562G>T | CA394708923 | GRIN2A | c.2982C>A (p.Asn994Lys) c.2511C>A (p.Asn837Lys) n.2575C>A c.*352C>A (n.*352C>A) c.2571C>A (p.Asn857Lys) n.2621C>A c.2823C>A (p.Asn941Lys) c.2724C>A (p.Asn908Lys) c.3138C>A (p.Asn1046Lys) | gnomAD v4 |
16 | g.9764563T>A | CA394708926 | GRIN2A | c.2981A>T (p.Asn994Ile) c.2510A>T (p.Asn837Ile) n.2574A>T c.*351A>T (n.*351A>T) c.2570A>T (p.Asn857Ile) n.2620A>T c.2822A>T (p.Asn941Ile) c.2723A>T (p.Asn908Ile) c.3137A>T (p.Asn1046Ile) | dbSNP |
16 | g.9764563T>C | CA394708925 | GRIN2A | c.2981A>G (p.Asn994Ser) c.2510A>G (p.Asn837Ser) n.2574A>G c.*351A>G (n.*351A>G) c.2570A>G (p.Asn857Ser) n.2620A>G c.2822A>G (p.Asn941Ser) c.2723A>G (p.Asn908Ser) c.3137A>G (p.Asn1046Ser) | |
16 | g.9764563T>G | CA394708924 | GRIN2A | c.2981A>C (p.Asn994Thr) c.2510A>C (p.Asn837Thr) n.2574A>C c.*351A>C (n.*351A>C) c.2570A>C (p.Asn857Thr) n.2620A>C c.2822A>C (p.Asn941Thr) c.2723A>C (p.Asn908Thr) c.3137A>C (p.Asn1046Thr) | dbSNP |
16 | g.9764564T>A | CA394708927 | GRIN2A | c.2980A>T (p.Asn994Tyr) c.2509A>T (p.Asn837Tyr) n.2573A>T c.*350A>T (n.*350A>T) c.2569A>T (p.Asn857Tyr) n.2619A>T c.2821A>T (p.Asn941Tyr) c.2722A>T (p.Asn908Tyr) c.3136A>T (p.Asn1046Tyr) | |
16 | g.9764564T>C | CA394708928 | GRIN2A | c.2980A>G (p.Asn994Asp) c.2509A>G (p.Asn837Asp) n.2573A>G c.*350A>G (n.*350A>G) c.2569A>G (p.Asn857Asp) n.2619A>G c.2821A>G (p.Asn941Asp) c.2722A>G (p.Asn908Asp) c.3136A>G (p.Asn1046Asp) | |
16 | g.9764564T>G | CA394708929 | GRIN2A | c.2980A>C (p.Asn994His) c.2509A>C (p.Asn837His) n.2573A>C c.*350A>C (n.*350A>C) c.2569A>C (p.Asn857His) n.2619A>C c.2821A>C (p.Asn941His) c.2722A>C (p.Asn908His) c.3136A>C (p.Asn1046His) | |
16 | g.9764565A>C | CA493693464 | GRIN2A | c.2979T>G (p.Pro993=) c.2508T>G (p.Pro836=) n.2572T>G c.*349T>G (n.*349T>G) c.2568T>G (p.Pro856=) n.2618T>G c.2820T>G (p.Pro940=) c.2721T>G (p.Pro907=) c.3135T>G (p.Pro1045=) | |
16 | g.9764565A>G | CA493693465 | GRIN2A | c.2979T>C (p.Pro993=) c.2508T>C (p.Pro836=) n.2572T>C c.*349T>C (n.*349T>C) c.2568T>C (p.Pro856=) n.2618T>C c.2820T>C (p.Pro940=) c.2721T>C (p.Pro907=) c.3135T>C (p.Pro1045=) | |
16 | g.9764565A>T | CA493693466 | GRIN2A | c.2979T>A (p.Pro993=) c.2508T>A (p.Pro836=) n.2572T>A c.*349T>A (n.*349T>A) c.2568T>A (p.Pro856=) n.2618T>A c.2820T>A (p.Pro940=) c.2721T>A (p.Pro907=) c.3135T>A (p.Pro1045=) | dbSNP |
16 | g.9764566G>A | CA394708930 | GRIN2A | c.2978C>T (p.Pro993Leu) c.2507C>T (p.Pro836Leu) n.2571C>T c.*348C>T (n.*348C>T) c.2567C>T (p.Pro856Leu) n.2617C>T c.2819C>T (p.Pro940Leu) c.2720C>T (p.Pro907Leu) c.3134C>T (p.Pro1045Leu) | dbSNP gnomAD v4 |
16 | g.9764566G>C | CA394708931 | GRIN2A | c.2978C>G (p.Pro993Arg) c.2507C>G (p.Pro836Arg) n.2571C>G c.*348C>G (n.*348C>G) c.2567C>G (p.Pro856Arg) n.2617C>G c.2819C>G (p.Pro940Arg) c.2720C>G (p.Pro907Arg) c.3134C>G (p.Pro1045Arg) | dbSNP gnomAD v4 |
16 | g.9764566G= | CA2206693303 | GRIN2A | c.2978C= (p.Pro993=) c.2507C= (p.Pro836=) n.2571C= c.*348C= (n.*348C=) c.2567C= (p.Pro856=) n.2617C= c.2819C= (p.Pro940=) c.2720C= (p.Pro907=) c.3134C= (p.Pro1045=) | |
16 | g.9764566G>T | CA394708932 | GRIN2A | c.2978C>A (p.Pro993His) c.2507C>A (p.Pro836His) n.2571C>A c.*348C>A (n.*348C>A) c.2567C>A (p.Pro856His) n.2617C>A c.2819C>A (p.Pro940His) c.2720C>A (p.Pro907His) c.3134C>A (p.Pro1045His) | dbSNP |
16 | g.9764567G>A | CA394708935 | GRIN2A | c.2977C>T (p.Pro993Ser) c.2506C>T (p.Pro836Ser) n.2570C>T c.*347C>T (n.*347C>T) c.2566C>T (p.Pro856Ser) n.2616C>T c.2818C>T (p.Pro940Ser) c.2719C>T (p.Pro907Ser) c.3133C>T (p.Pro1045Ser) | |
16 | g.9764567G>C | CA394708933 | GRIN2A | c.2977C>G (p.Pro993Ala) c.2506C>G (p.Pro836Ala) n.2570C>G c.*347C>G (n.*347C>G) c.2566C>G (p.Pro856Ala) n.2616C>G c.2818C>G (p.Pro940Ala) c.2719C>G (p.Pro907Ala) c.3133C>G (p.Pro1045Ala) | dbSNP |
16 | g.9764567G>T | CA394708934 | GRIN2A | c.2977C>A (p.Pro993Thr) c.2506C>A (p.Pro836Thr) n.2570C>A c.*347C>A (n.*347C>A) c.2566C>A (p.Pro856Thr) n.2616C>A c.2818C>A (p.Pro940Thr) c.2719C>A (p.Pro907Thr) c.3133C>A (p.Pro1045Thr) | COSMIC |
16 | g.9764568G>A | CA493693467 | GRIN2A | c.2976C>T (p.Asn992=) c.2505C>T (p.Asn835=) n.2569C>T c.*346C>T (n.*346C>T) c.2565C>T (p.Asn855=) n.2615C>T c.2817C>T (p.Asn939=) c.2718C>T (p.Asn906=) c.3132C>T (p.Asn1044=) | |
16 | g.9764568G>C | CA394708936 | GRIN2A | c.2976C>G (p.Asn992Lys) c.2505C>G (p.Asn835Lys) n.2569C>G c.*346C>G (n.*346C>G) c.2565C>G (p.Asn855Lys) n.2615C>G c.2817C>G (p.Asn939Lys) c.2718C>G (p.Asn906Lys) c.3132C>G (p.Asn1044Lys) | |
16 | g.9764568G= | CA2206693304 | GRIN2A | c.2976C= (p.Asn992=) c.2505C= (p.Asn835=) n.2569C= c.*346C= (n.*346C=) c.2565C= (p.Asn855=) n.2615C= c.2817C= (p.Asn939=) c.2718C= (p.Asn906=) c.3132C= (p.Asn1044=) | |
16 | g.9764568G>T | CA277538190 | GRIN2A | c.2976C>A (p.Asn992Lys) c.2505C>A (p.Asn835Lys) n.2569C>A c.*346C>A (n.*346C>A) c.2565C>A (p.Asn855Lys) n.2615C>A c.2817C>A (p.Asn939Lys) c.2718C>A (p.Asn906Lys) c.3132C>A (p.Asn1044Lys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764569T>A | CA394708937 | GRIN2A | c.2975A>T (p.Asn992Ile) c.2504A>T (p.Asn835Ile) n.2568A>T c.*345A>T (n.*345A>T) c.2564A>T (p.Asn855Ile) n.2614A>T c.2816A>T (p.Asn939Ile) c.2717A>T (p.Asn906Ile) c.3131A>T (p.Asn1044Ile) | |
16 | g.9764569T>C | CA394708938 | GRIN2A | c.2975A>G (p.Asn992Ser) c.2504A>G (p.Asn835Ser) n.2568A>G c.*345A>G (n.*345A>G) c.2564A>G (p.Asn855Ser) n.2614A>G c.2816A>G (p.Asn939Ser) c.2717A>G (p.Asn906Ser) c.3131A>G (p.Asn1044Ser) | ClinVar COSMIC |
16 | g.9764569T>G | CA394708939 | GRIN2A | c.2975A>C (p.Asn992Thr) c.2504A>C (p.Asn835Thr) n.2568A>C c.*345A>C (n.*345A>C) c.2564A>C (p.Asn855Thr) n.2614A>C c.2816A>C (p.Asn939Thr) c.2717A>C (p.Asn906Thr) c.3131A>C (p.Asn1044Thr) | |
16 | g.9764570T>A | CA394708940 | GRIN2A | c.2974A>T (p.Asn992Tyr) c.2503A>T (p.Asn835Tyr) n.2567A>T c.*344A>T (n.*344A>T) c.2563A>T (p.Asn855Tyr) n.2613A>T c.2815A>T (p.Asn939Tyr) c.2716A>T (p.Asn906Tyr) c.3130A>T (p.Asn1044Tyr) | |
16 | g.9764570T>C | CA394708942 | GRIN2A | c.2974A>G (p.Asn992Asp) c.2503A>G (p.Asn835Asp) n.2567A>G c.*344A>G (n.*344A>G) c.2563A>G (p.Asn855Asp) n.2613A>G c.2815A>G (p.Asn939Asp) c.2716A>G (p.Asn906Asp) c.3130A>G (p.Asn1044Asp) | |
16 | g.9764570T>G | CA394708941 | GRIN2A | c.2974A>C (p.Asn992His) c.2503A>C (p.Asn835His) n.2567A>C c.*344A>C (n.*344A>C) c.2563A>C (p.Asn855His) n.2613A>C c.2815A>C (p.Asn939His) c.2716A>C (p.Asn906His) c.3130A>C (p.Asn1044His) | |
16 | g.9764571G>A | CA493693470 | GRIN2A | c.2973C>T (p.Ser991=) c.2502C>T (p.Ser834=) n.2566C>T c.*343C>T (n.*343C>T) c.2562C>T (p.Ser854=) n.2612C>T c.2814C>T (p.Ser938=) c.2715C>T (p.Ser905=) c.3129C>T (p.Ser1043=) | dbSNP gnomAD v4 COSMIC |
16 | g.9764571G>C | CA493693471 | GRIN2A | c.2973C>G (p.Ser991=) c.2502C>G (p.Ser834=) n.2566C>G c.*343C>G (n.*343C>G) c.2562C>G (p.Ser854=) n.2612C>G c.2814C>G (p.Ser938=) c.2715C>G (p.Ser905=) c.3129C>G (p.Ser1043=) | |
16 | g.9764571G>T | CA493693472 | GRIN2A | c.2973C>A (p.Ser991=) c.2502C>A (p.Ser834=) n.2566C>A c.*343C>A (n.*343C>A) c.2562C>A (p.Ser854=) n.2612C>A c.2814C>A (p.Ser938=) c.2715C>A (p.Ser905=) c.3129C>A (p.Ser1043=) | dbSNP |
16 | g.9764572G>A | CA394708943 | GRIN2A | c.2972C>T (p.Ser991Phe) c.2501C>T (p.Ser834Phe) n.2565C>T c.*342C>T (n.*342C>T) c.2561C>T (p.Ser854Phe) n.2611C>T c.2813C>T (p.Ser938Phe) c.2714C>T (p.Ser905Phe) c.3128C>T (p.Ser1043Phe) | COSMIC |
16 | g.9764572G>C | CA394708944 | GRIN2A | c.2972C>G (p.Ser991Cys) c.2501C>G (p.Ser834Cys) n.2565C>G c.*342C>G (n.*342C>G) c.2561C>G (p.Ser854Cys) n.2611C>G c.2813C>G (p.Ser938Cys) c.2714C>G (p.Ser905Cys) c.3128C>G (p.Ser1043Cys) | dbSNP |
16 | g.9764572G>T | CA394708945 | GRIN2A | c.2972C>A (p.Ser991Tyr) c.2501C>A (p.Ser834Tyr) n.2565C>A c.*342C>A (n.*342C>A) c.2561C>A (p.Ser854Tyr) n.2611C>A c.2813C>A (p.Ser938Tyr) c.2714C>A (p.Ser905Tyr) c.3128C>A (p.Ser1043Tyr) | dbSNP |
16 | g.9764573A>C | CA394708946 | GRIN2A | c.2971T>G (p.Ser991Ala) c.2500T>G (p.Ser834Ala) n.2564T>G c.*341T>G (n.*341T>G) c.2560T>G (p.Ser854Ala) n.2610T>G c.2812T>G (p.Ser938Ala) c.2713T>G (p.Ser905Ala) c.3127T>G (p.Ser1043Ala) | |
16 | g.9764573A>G | CA394708947 | GRIN2A | c.2971T>C (p.Ser991Pro) c.2500T>C (p.Ser834Pro) n.2564T>C c.*341T>C (n.*341T>C) c.2560T>C (p.Ser854Pro) n.2610T>C c.2812T>C (p.Ser938Pro) c.2713T>C (p.Ser905Pro) c.3127T>C (p.Ser1043Pro) | COSMIC |
16 | g.9764573A>T | CA394708948 | GRIN2A | c.2971T>A (p.Ser991Thr) c.2500T>A (p.Ser834Thr) n.2564T>A c.*341T>A (n.*341T>A) c.2560T>A (p.Ser854Thr) n.2610T>A c.2812T>A (p.Ser938Thr) c.2713T>A (p.Ser905Thr) c.3127T>A (p.Ser1043Thr) | dbSNP |
16 | g.9764574C>A | CA394708949 | GRIN2A | c.2970G>T (p.Glu990Asp) c.2499G>T (p.Glu833Asp) n.2563G>T c.*340G>T (n.*340G>T) c.2559G>T (p.Glu853Asp) n.2609G>T c.2811G>T (p.Glu937Asp) c.2712G>T (p.Glu904Asp) c.3126G>T (p.Glu1042Asp) | dbSNP |
16 | g.9764574C= | CA2206693305 | GRIN2A | c.2970G= (p.Glu990=) c.2499G= (p.Glu833=) n.2563G= c.*340G= (n.*340G=) c.2559G= (p.Glu853=) n.2609G= c.2811G= (p.Glu937=) c.2712G= (p.Glu904=) c.3126G= (p.Glu1042=) | |
16 | g.9764574C>G | CA394708950 | GRIN2A | c.2970G>C (p.Glu990Asp) c.2499G>C (p.Glu833Asp) n.2563G>C c.*340G>C (n.*340G>C) c.2559G>C (p.Glu853Asp) n.2609G>C c.2811G>C (p.Glu937Asp) c.2712G>C (p.Glu904Asp) c.3126G>C (p.Glu1042Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.9764574C>T | CA493693475 | GRIN2A | c.2970G>A (p.Glu990=) c.2499G>A (p.Glu833=) n.2563G>A c.*340G>A (n.*340G>A) c.2559G>A (p.Glu853=) n.2609G>A c.2811G>A (p.Glu937=) c.2712G>A (p.Glu904=) c.3126G>A (p.Glu1042=) | ClinVar dbSNP gnomAD v4 |
16 | g.9764575T>A | CA394708951 | GRIN2A | c.2969A>T (p.Glu990Val) c.2498A>T (p.Glu833Val) n.2562A>T c.*339A>T (n.*339A>T) c.2558A>T (p.Glu853Val) n.2608A>T c.2810A>T (p.Glu937Val) c.2711A>T (p.Glu904Val) c.3125A>T (p.Glu1042Val) | |
16 | g.9764575T>C | CA394708952 | GRIN2A | c.2969A>G (p.Glu990Gly) c.2498A>G (p.Glu833Gly) n.2562A>G c.*339A>G (n.*339A>G) c.2558A>G (p.Glu853Gly) n.2608A>G c.2810A>G (p.Glu937Gly) c.2711A>G (p.Glu904Gly) c.3125A>G (p.Glu1042Gly) | |
16 | g.9764575T>G | CA394708953 | GRIN2A | c.2969A>C (p.Glu990Ala) c.2498A>C (p.Glu833Ala) n.2562A>C c.*339A>C (n.*339A>C) c.2558A>C (p.Glu853Ala) n.2608A>C c.2810A>C (p.Glu937Ala) c.2711A>C (p.Glu904Ala) c.3125A>C (p.Glu1042Ala) | gnomAD v4 |
16 | g.9764576C>A | CA394708955 | GRIN2A | c.2968G>T (p.Glu990Ter) c.2497G>T (p.Glu833Ter) n.2561G>T c.*338G>T (n.*338G>T) c.2557G>T (p.Glu853Ter) n.2607G>T c.2809G>T (p.Glu937Ter) c.2710G>T (p.Glu904Ter) c.3124G>T (p.Glu1042Ter) | dbSNP |
16 | g.9764576C= | CA2206693306 | GRIN2A | c.2968G= (p.Glu990=) c.2497G= (p.Glu833=) n.2561G= c.*338G= (n.*338G=) c.2557G= (p.Glu853=) n.2607G= c.2809G= (p.Glu937=) c.2710G= (p.Glu904=) c.3124G= (p.Glu1042=) | |
16 | g.9764576C>G | CA394708956 | GRIN2A | c.2968G>C (p.Glu990Gln) c.2497G>C (p.Glu833Gln) n.2561G>C c.*338G>C (n.*338G>C) c.2557G>C (p.Glu853Gln) n.2607G>C c.2809G>C (p.Glu937Gln) c.2710G>C (p.Glu904Gln) c.3124G>C (p.Glu1042Gln) | dbSNP |
16 | g.9764576C>T | CA394708954 | GRIN2A | c.2968G>A (p.Glu990Lys) c.2497G>A (p.Glu833Lys) n.2561G>A c.*338G>A (n.*338G>A) c.2557G>A (p.Glu853Lys) n.2607G>A c.2809G>A (p.Glu937Lys) c.2710G>A (p.Glu904Lys) c.3124G>A (p.Glu1042Lys) | dbSNP |
16 | g.9764576_9764582delinsCATTGAG | CA2206693307 | GRIN2A | c.2962_2968delinsCTCAATG (p.Leu988=) c.2491_2497delinsCTCAATG (p.Leu831=) n.2555_2561delinsCTCAATG c.*332_*338delinsCTCAATG (n.*332_*338delinsCTCAATG) c.2551_2557delinsCTCAATG (p.Leu851=) n.2601_2607delinsCTCAATG c.2803_2809delinsCTCAATG (p.Leu935=) c.2704_2710delinsCTCAATG (p.Leu902=) c.3118_3124delinsCTCAATG (p.Leu1040=) | |
16 | g.9764577A= | CA2206693308 | GRIN2A | c.2967T= (p.Asn989=) c.2496T= (p.Asn832=) n.2560T= c.*337T= (n.*337T=) c.2556T= (p.Asn852=) n.2606T= c.2808T= (p.Asn936=) c.2709T= (p.Asn903=) c.3123T= (p.Asn1041=) | |
16 | g.9764577A>C | CA394708957 | GRIN2A | c.2967T>G (p.Asn989Lys) c.2496T>G (p.Asn832Lys) n.2560T>G c.*337T>G (n.*337T>G) c.2556T>G (p.Asn852Lys) n.2606T>G c.2808T>G (p.Asn936Lys) c.2709T>G (p.Asn903Lys) c.3123T>G (p.Asn1041Lys) | |
16 | g.9764577A>G | CA493693479 | GRIN2A | c.2967T>C (p.Asn989=) c.2496T>C (p.Asn832=) n.2560T>C c.*337T>C (n.*337T>C) c.2556T>C (p.Asn852=) n.2606T>C c.2808T>C (p.Asn936=) c.2709T>C (p.Asn903=) c.3123T>C (p.Asn1041=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764577A>T | CA394708958 | GRIN2A | c.2967T>A (p.Asn989Lys) c.2496T>A (p.Asn832Lys) n.2560T>A c.*337T>A (n.*337T>A) c.2556T>A (p.Asn852Lys) n.2606T>A c.2808T>A (p.Asn936Lys) c.2709T>A (p.Asn903Lys) c.3123T>A (p.Asn1041Lys) | dbSNP |
16 | g.9764578_9764583del | CA7896398 | GRIN2A | c.2962_2967del (p.Leu988_Asn989del) c.2491_2496del (p.Leu831_Asn832del) n.2555_2560del c.*332_*337del (n.*332_*337del) c.2551_2556del (p.Leu851_Asn852del) n.2601_2606del c.2803_2808del (p.Leu935_Asn936del) c.2704_2709del (p.Leu902_Asn903del) c.3118_3123del (p.Leu1040_Asn1041del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764578T>A | CA394708959 | GRIN2A | c.2966A>T (p.Asn989Ile) c.2495A>T (p.Asn832Ile) n.2559A>T c.*336A>T (n.*336A>T) c.2555A>T (p.Asn852Ile) n.2605A>T c.2807A>T (p.Asn936Ile) c.2708A>T (p.Asn903Ile) c.3122A>T (p.Asn1041Ile) | |
16 | g.9764578T>C | CA7896399 | GRIN2A | c.2966A>G (p.Asn989Ser) c.2495A>G (p.Asn832Ser) n.2559A>G c.*336A>G (n.*336A>G) c.2555A>G (p.Asn852Ser) n.2605A>G c.2807A>G (p.Asn936Ser) c.2708A>G (p.Asn903Ser) c.3122A>G (p.Asn1041Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764578T>G | CA394708960 | GRIN2A | c.2966A>C (p.Asn989Thr) c.2495A>C (p.Asn832Thr) n.2559A>C c.*336A>C (n.*336A>C) c.2555A>C (p.Asn852Thr) n.2605A>C c.2807A>C (p.Asn936Thr) c.2708A>C (p.Asn903Thr) c.3122A>C (p.Asn1041Thr) | dbSNP gnomAD v4 |
16 | g.9764578T= | CA2206693309 | GRIN2A | c.2966A= (p.Asn989=) c.2495A= (p.Asn832=) n.2559A= c.*336A= (n.*336A=) c.2555A= (p.Asn852=) n.2605A= c.2807A= (p.Asn936=) c.2708A= (p.Asn903=) c.3122A= (p.Asn1041=) | |
16 | g.9764579T>A | CA394708961 | GRIN2A | c.2965A>T (p.Asn989Tyr) c.2494A>T (p.Asn832Tyr) n.2558A>T c.*335A>T (n.*335A>T) c.2554A>T (p.Asn852Tyr) n.2604A>T c.2806A>T (p.Asn936Tyr) c.2707A>T (p.Asn903Tyr) c.3121A>T (p.Asn1041Tyr) | dbSNP gnomAD v4 |
16 | g.9764579T>C | CA394708962 | GRIN2A | c.2965A>G (p.Asn989Asp) c.2494A>G (p.Asn832Asp) n.2558A>G c.*335A>G (n.*335A>G) c.2554A>G (p.Asn852Asp) n.2604A>G c.2806A>G (p.Asn936Asp) c.2707A>G (p.Asn903Asp) c.3121A>G (p.Asn1041Asp) | dbSNP |
16 | g.9764579T>G | CA394708963 | GRIN2A | c.2965A>C (p.Asn989His) c.2494A>C (p.Asn832His) n.2558A>C c.*335A>C (n.*335A>C) c.2554A>C (p.Asn852His) n.2604A>C c.2806A>C (p.Asn936His) c.2707A>C (p.Asn903His) c.3121A>C (p.Asn1041His) | dbSNP gnomAD v4 |
16 | g.9764579T= | CA2206693310 | GRIN2A | c.2965A= (p.Asn989=) c.2494A= (p.Asn832=) n.2558A= c.*335A= (n.*335A=) c.2554A= (p.Asn852=) n.2604A= c.2806A= (p.Asn936=) c.2707A= (p.Asn903=) c.3121A= (p.Asn1041=) | |
16 | g.9764580G>A | CA493693483 | GRIN2A | c.2964C>T (p.Leu988=) c.2493C>T (p.Leu831=) n.2557C>T c.*334C>T (n.*334C>T) c.2553C>T (p.Leu851=) n.2603C>T c.2805C>T (p.Leu935=) c.2706C>T (p.Leu902=) c.3120C>T (p.Leu1040=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764580G>C | CA493693485 | GRIN2A | c.2964C>G (p.Leu988=) c.2493C>G (p.Leu831=) n.2557C>G c.*334C>G (n.*334C>G) c.2553C>G (p.Leu851=) n.2603C>G c.2805C>G (p.Leu935=) c.2706C>G (p.Leu902=) c.3120C>G (p.Leu1040=) | dbSNP |
16 | g.9764580G= | CA2206693311 | GRIN2A | c.2964C= (p.Leu988=) c.2493C= (p.Leu831=) n.2557C= c.*334C= (n.*334C=) c.2553C= (p.Leu851=) n.2603C= c.2805C= (p.Leu935=) c.2706C= (p.Leu902=) c.3120C= (p.Leu1040=) | |
16 | g.9764580G>T | CA493693484 | GRIN2A | c.2964C>A (p.Leu988=) c.2493C>A (p.Leu831=) n.2557C>A c.*334C>A (n.*334C>A) c.2553C>A (p.Leu851=) n.2603C>A c.2805C>A (p.Leu935=) c.2706C>A (p.Leu902=) c.3120C>A (p.Leu1040=) | |
16 | g.9764581A>C | CA394708964 | GRIN2A | c.2963T>G (p.Leu988Arg) c.2492T>G (p.Leu831Arg) n.2556T>G c.*333T>G (n.*333T>G) c.2552T>G (p.Leu851Arg) n.2602T>G c.2804T>G (p.Leu935Arg) c.2705T>G (p.Leu902Arg) c.3119T>G (p.Leu1040Arg) | |
16 | g.9764581A>G | CA394708965 | GRIN2A | c.2963T>C (p.Leu988Pro) c.2492T>C (p.Leu831Pro) n.2556T>C c.*333T>C (n.*333T>C) c.2552T>C (p.Leu851Pro) n.2602T>C c.2804T>C (p.Leu935Pro) c.2705T>C (p.Leu902Pro) c.3119T>C (p.Leu1040Pro) | |
16 | g.9764581A>T | CA394708966 | GRIN2A | c.2963T>A (p.Leu988His) c.2492T>A (p.Leu831His) n.2556T>A c.*333T>A (n.*333T>A) c.2552T>A (p.Leu851His) n.2602T>A c.2804T>A (p.Leu935His) c.2705T>A (p.Leu902His) c.3119T>A (p.Leu1040His) | dbSNP |
16 | g.9764582G>A | CA394708967 | GRIN2A | c.2962C>T (p.Leu988Phe) c.2491C>T (p.Leu831Phe) n.2555C>T c.*332C>T (n.*332C>T) c.2551C>T (p.Leu851Phe) n.2601C>T c.2803C>T (p.Leu935Phe) c.2704C>T (p.Leu902Phe) c.3118C>T (p.Leu1040Phe) | dbSNP gnomAD v4 |
16 | g.9764582G>C | CA394708968 | GRIN2A | c.2962C>G (p.Leu988Val) c.2491C>G (p.Leu831Val) n.2555C>G c.*332C>G (n.*332C>G) c.2551C>G (p.Leu851Val) n.2601C>G c.2803C>G (p.Leu935Val) c.2704C>G (p.Leu902Val) c.3118C>G (p.Leu1040Val) | ClinVar gnomAD v4 |
16 | g.9764582G>T | CA394708969 | GRIN2A | c.2962C>A (p.Leu988Ile) c.2491C>A (p.Leu831Ile) n.2555C>A c.*332C>A (n.*332C>A) c.2551C>A (p.Leu851Ile) n.2601C>A c.2803C>A (p.Leu935Ile) c.2704C>A (p.Leu902Ile) c.3118C>A (p.Leu1040Ile) | dbSNP COSMIC |
16 | g.9764583A= | CA2206693312 | GRIN2A | c.2961T= (p.Thr987=) c.2490T= (p.Thr830=) n.2554T= c.*331T= (n.*331T=) c.2550T= (p.Thr850=) n.2600T= c.2802T= (p.Thr934=) c.2703T= (p.Thr901=) c.3117T= (p.Thr1039=) | |
16 | g.9764583A>C | CA7896400 | GRIN2A | c.2961T>G (p.Thr987=) c.2490T>G (p.Thr830=) n.2554T>G c.*331T>G (n.*331T>G) c.2550T>G (p.Thr850=) n.2600T>G c.2802T>G (p.Thr934=) c.2703T>G (p.Thr901=) c.3117T>G (p.Thr1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764583A>G | CA493693487 | GRIN2A | c.2961T>C (p.Thr987=) c.2490T>C (p.Thr830=) n.2554T>C c.*331T>C (n.*331T>C) c.2550T>C (p.Thr850=) n.2600T>C c.2802T>C (p.Thr934=) c.2703T>C (p.Thr901=) c.3117T>C (p.Thr1039=) | dbSNP gnomAD v4 |
16 | g.9764583A>T | CA493693488 | GRIN2A | c.2961T>A (p.Thr987=) c.2490T>A (p.Thr830=) n.2554T>A c.*331T>A (n.*331T>A) c.2550T>A (p.Thr850=) n.2600T>A c.2802T>A (p.Thr934=) c.2703T>A (p.Thr901=) c.3117T>A (p.Thr1039=) | |
16 | g.9764584G>A | CA7896401 | GRIN2A | c.2960C>T (p.Thr987Ile) c.2489C>T (p.Thr830Ile) n.2553C>T c.*330C>T (n.*330C>T) c.2549C>T (p.Thr850Ile) n.2599C>T c.2801C>T (p.Thr934Ile) c.2702C>T (p.Thr901Ile) c.3116C>T (p.Thr1039Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764584G>C | CA394708970 | GRIN2A | c.2960C>G (p.Thr987Ser) c.2489C>G (p.Thr830Ser) n.2553C>G c.*330C>G (n.*330C>G) c.2549C>G (p.Thr850Ser) n.2599C>G c.2801C>G (p.Thr934Ser) c.2702C>G (p.Thr901Ser) c.3116C>G (p.Thr1039Ser) | gnomAD v4 |
16 | g.9764584G= | CA2206693313 | GRIN2A | c.2960C= (p.Thr987=) c.2489C= (p.Thr830=) n.2553C= c.*330C= (n.*330C=) c.2549C= (p.Thr850=) n.2599C= c.2801C= (p.Thr934=) c.2702C= (p.Thr901=) c.3116C= (p.Thr1039=) | |
16 | g.9764584G>T | CA394708971 | GRIN2A | c.2960C>A (p.Thr987Asn) c.2489C>A (p.Thr830Asn) n.2553C>A c.*330C>A (n.*330C>A) c.2549C>A (p.Thr850Asn) n.2599C>A c.2801C>A (p.Thr934Asn) c.2702C>A (p.Thr901Asn) c.3116C>A (p.Thr1039Asn) | |
16 | g.9764585T>A | CA394708972 | GRIN2A | c.2959A>T (p.Thr987Ser) c.2488A>T (p.Thr830Ser) n.2552A>T c.*329A>T (n.*329A>T) c.2548A>T (p.Thr850Ser) n.2598A>T c.2800A>T (p.Thr934Ser) c.2701A>T (p.Thr901Ser) c.3115A>T (p.Thr1039Ser) | |
16 | g.9764585T>C | CA394708974 | GRIN2A | c.2959A>G (p.Thr987Ala) c.2488A>G (p.Thr830Ala) n.2552A>G c.*329A>G (n.*329A>G) c.2548A>G (p.Thr850Ala) n.2598A>G c.2800A>G (p.Thr934Ala) c.2701A>G (p.Thr901Ala) c.3115A>G (p.Thr1039Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.9764585T>G | CA394708973 | GRIN2A | c.2959A>C (p.Thr987Pro) c.2488A>C (p.Thr830Pro) n.2552A>C c.*329A>C (n.*329A>C) c.2548A>C (p.Thr850Pro) n.2598A>C c.2800A>C (p.Thr934Pro) c.2701A>C (p.Thr901Pro) c.3115A>C (p.Thr1039Pro) | gnomAD v4 |
16 | g.9764586A= | CA2206693314 | GRIN2A | c.2958T= (p.Leu986=) c.2487T= (p.Leu829=) n.2551T= c.*328T= (n.*328T=) c.2547T= (p.Leu849=) n.2597T= c.2799T= (p.Leu933=) c.2700T= (p.Leu900=) c.3114T= (p.Leu1038=) | |
16 | g.9764586A>C | CA16607570 | GRIN2A | c.2958T>G (p.Leu986=) c.2487T>G (p.Leu829=) n.2551T>G c.*328T>G (n.*328T>G) c.2547T>G (p.Leu849=) n.2597T>G c.2799T>G (p.Leu933=) c.2700T>G (p.Leu900=) c.3114T>G (p.Leu1038=) | ClinVar dbSNP gnomAD v4 |
16 | g.9764586A>G | CA493693491 | GRIN2A | c.2958T>C (p.Leu986=) c.2487T>C (p.Leu829=) n.2551T>C c.*328T>C (n.*328T>C) c.2547T>C (p.Leu849=) n.2597T>C c.2799T>C (p.Leu933=) c.2700T>C (p.Leu900=) c.3114T>C (p.Leu1038=) | |
16 | g.9764586A>T | CA493693492 | GRIN2A | c.2958T>A (p.Leu986=) c.2487T>A (p.Leu829=) n.2551T>A c.*328T>A (n.*328T>A) c.2547T>A (p.Leu849=) n.2597T>A c.2799T>A (p.Leu933=) c.2700T>A (p.Leu900=) c.3114T>A (p.Leu1038=) | |
16 | g.9764587A>C | CA394708975 | GRIN2A | c.2957T>G (p.Leu986Arg) c.2486T>G (p.Leu829Arg) n.2550T>G c.*327T>G (n.*327T>G) c.2546T>G (p.Leu849Arg) n.2596T>G c.2798T>G (p.Leu933Arg) c.2699T>G (p.Leu900Arg) c.3113T>G (p.Leu1038Arg) | |
16 | g.9764587A>G | CA394708976 | GRIN2A | c.2957T>C (p.Leu986Pro) c.2486T>C (p.Leu829Pro) n.2550T>C c.*327T>C (n.*327T>C) c.2546T>C (p.Leu849Pro) n.2596T>C c.2798T>C (p.Leu933Pro) c.2699T>C (p.Leu900Pro) c.3113T>C (p.Leu1038Pro) | |
16 | g.9764587A>T | CA394708977 | GRIN2A | c.2957T>A (p.Leu986His) c.2486T>A (p.Leu829His) n.2550T>A c.*327T>A (n.*327T>A) c.2546T>A (p.Leu849His) n.2596T>A c.2798T>A (p.Leu933His) c.2699T>A (p.Leu900His) c.3113T>A (p.Leu1038His) | |
16 | g.9764588G>A | CA394708978 | GRIN2A | c.2956C>T (p.Leu986Phe) c.2485C>T (p.Leu829Phe) n.2549C>T c.*326C>T (n.*326C>T) c.2545C>T (p.Leu849Phe) n.2595C>T c.2797C>T (p.Leu933Phe) c.2698C>T (p.Leu900Phe) c.3112C>T (p.Leu1038Phe) | |
16 | g.9764588G>C | CA394708979 | GRIN2A | c.2956C>G (p.Leu986Val) c.2485C>G (p.Leu829Val) n.2549C>G c.*326C>G (n.*326C>G) c.2545C>G (p.Leu849Val) n.2595C>G c.2797C>G (p.Leu933Val) c.2698C>G (p.Leu900Val) c.3112C>G (p.Leu1038Val) | dbSNP gnomAD v4 |
16 | g.9764588G>T | CA394708980 | GRIN2A | c.2956C>A (p.Leu986Ile) c.2485C>A (p.Leu829Ile) n.2549C>A c.*326C>A (n.*326C>A) c.2545C>A (p.Leu849Ile) n.2595C>A c.2797C>A (p.Leu933Ile) c.2698C>A (p.Leu900Ile) c.3112C>A (p.Leu1038Ile) | |
16 | g.9764589A>C | CA493693494 | GRIN2A | c.2955T>G (p.Pro985=) c.2484T>G (p.Pro828=) n.2548T>G c.*325T>G (n.*325T>G) c.2544T>G (p.Pro848=) n.2594T>G c.2796T>G (p.Pro932=) c.2697T>G (p.Pro899=) c.3111T>G (p.Pro1037=) | |
16 | g.9764589A>G | CA493693495 | GRIN2A | c.2955T>C (p.Pro985=) c.2484T>C (p.Pro828=) n.2548T>C c.*325T>C (n.*325T>C) c.2544T>C (p.Pro848=) n.2594T>C c.2796T>C (p.Pro932=) c.2697T>C (p.Pro899=) c.3111T>C (p.Pro1037=) | |
16 | g.9764589A>T | CA493693496 | GRIN2A | c.2955T>A (p.Pro985=) c.2484T>A (p.Pro828=) n.2548T>A c.*325T>A (n.*325T>A) c.2544T>A (p.Pro848=) n.2594T>A c.2796T>A (p.Pro932=) c.2697T>A (p.Pro899=) c.3111T>A (p.Pro1037=) | |
16 | g.9764590G>A | CA394708981 | GRIN2A | c.2954C>T (p.Pro985Leu) c.2483C>T (p.Pro828Leu) n.2547C>T c.*324C>T (n.*324C>T) c.2543C>T (p.Pro848Leu) n.2593C>T c.2795C>T (p.Pro932Leu) c.2696C>T (p.Pro899Leu) c.3110C>T (p.Pro1037Leu) | dbSNP gnomAD v4 COSMIC |
16 | g.9764590G>C | CA394708982 | GRIN2A | c.2954C>G (p.Pro985Arg) c.2483C>G (p.Pro828Arg) n.2547C>G c.*324C>G (n.*324C>G) c.2543C>G (p.Pro848Arg) n.2593C>G c.2795C>G (p.Pro932Arg) c.2696C>G (p.Pro899Arg) c.3110C>G (p.Pro1037Arg) | |
16 | g.9764590G>T | CA394708983 | GRIN2A | c.2954C>A (p.Pro985His) c.2483C>A (p.Pro828His) n.2547C>A c.*324C>A (n.*324C>A) c.2543C>A (p.Pro848His) n.2593C>A c.2795C>A (p.Pro932His) c.2696C>A (p.Pro899His) c.3110C>A (p.Pro1037His) | |
16 | g.9764591G>A | CA394708986 | GRIN2A | c.2953C>T (p.Pro985Ser) c.2482C>T (p.Pro828Ser) n.2546C>T c.*323C>T (n.*323C>T) c.2542C>T (p.Pro848Ser) n.2592C>T c.2794C>T (p.Pro932Ser) c.2695C>T (p.Pro899Ser) c.3109C>T (p.Pro1037Ser) | ClinVar gnomAD v4 |
16 | g.9764591G>C | CA394708985 | GRIN2A | c.2953C>G (p.Pro985Ala) c.2482C>G (p.Pro828Ala) n.2546C>G c.*323C>G (n.*323C>G) c.2542C>G (p.Pro848Ala) n.2592C>G c.2794C>G (p.Pro932Ala) c.2695C>G (p.Pro899Ala) c.3109C>G (p.Pro1037Ala) | dbSNP |
16 | g.9764591G>T | CA394708984 | GRIN2A | c.2953C>A (p.Pro985Thr) c.2482C>A (p.Pro828Thr) n.2546C>A c.*323C>A (n.*323C>A) c.2542C>A (p.Pro848Thr) n.2592C>A c.2794C>A (p.Pro932Thr) c.2695C>A (p.Pro899Thr) c.3109C>A (p.Pro1037Thr) | |
16 | g.9764592A>C | CA394708987 | GRIN2A | c.2952T>G (p.His984Gln) c.2481T>G (p.His827Gln) n.2545T>G c.*322T>G (n.*322T>G) c.2541T>G (p.His847Gln) n.2591T>G c.2793T>G (p.His931Gln) c.2694T>G (p.His898Gln) c.3108T>G (p.His1036Gln) | |
16 | g.9764592A>G | CA493693498 | GRIN2A | c.2952T>C (p.His984=) c.2481T>C (p.His827=) n.2545T>C c.*322T>C (n.*322T>C) c.2541T>C (p.His847=) n.2591T>C c.2793T>C (p.His931=) c.2694T>C (p.His898=) c.3108T>C (p.His1036=) | |
16 | g.9764592A>T | CA394708988 | GRIN2A | c.2952T>A (p.His984Gln) c.2481T>A (p.His827Gln) n.2545T>A c.*322T>A (n.*322T>A) c.2541T>A (p.His847Gln) n.2591T>A c.2793T>A (p.His931Gln) c.2694T>A (p.His898Gln) c.3108T>A (p.His1036Gln) | |
16 | g.9764593T>A | CA394708989 | GRIN2A | c.2951A>T (p.His984Leu) c.2480A>T (p.His827Leu) n.2544A>T c.*321A>T (n.*321A>T) c.2540A>T (p.His847Leu) n.2590A>T c.2792A>T (p.His931Leu) c.2693A>T (p.His898Leu) c.3107A>T (p.His1036Leu) | |
16 | g.9764593T>C | CA394708990 | GRIN2A | c.2951A>G (p.His984Arg) c.2480A>G (p.His827Arg) n.2544A>G c.*321A>G (n.*321A>G) c.2540A>G (p.His847Arg) n.2590A>G c.2792A>G (p.His931Arg) c.2693A>G (p.His898Arg) c.3107A>G (p.His1036Arg) | gnomAD v4 |
16 | g.9764593T>G | CA394708991 | GRIN2A | c.2951A>C (p.His984Pro) c.2480A>C (p.His827Pro) n.2544A>C c.*321A>C (n.*321A>C) c.2540A>C (p.His847Pro) n.2590A>C c.2792A>C (p.His931Pro) c.2693A>C (p.His898Pro) c.3107A>C (p.His1036Pro) | dbSNP |
16 | g.9764594G>A | CA394708992 | GRIN2A | c.2950C>T (p.His984Tyr) c.2479C>T (p.His827Tyr) n.2543C>T c.*320C>T (n.*320C>T) c.2539C>T (p.His847Tyr) n.2589C>T c.2791C>T (p.His931Tyr) c.2692C>T (p.His898Tyr) c.3106C>T (p.His1036Tyr) | dbSNP |
16 | g.9764594G>C | CA394708993 | GRIN2A | c.2950C>G (p.His984Asp) c.2479C>G (p.His827Asp) n.2543C>G c.*320C>G (n.*320C>G) c.2539C>G (p.His847Asp) n.2589C>G c.2791C>G (p.His931Asp) c.2692C>G (p.His898Asp) c.3106C>G (p.His1036Asp) | |
16 | g.9764594G>T | CA394708994 | GRIN2A | c.2950C>A (p.His984Asn) c.2479C>A (p.His827Asn) n.2543C>A c.*320C>A (n.*320C>A) c.2539C>A (p.His847Asn) n.2589C>A c.2791C>A (p.His931Asn) c.2692C>A (p.His898Asn) c.3106C>A (p.His1036Asn) | |
16 | g.9764595T>A | CA394708995 | GRIN2A | c.2949A>T (p.Gln983His) c.2478A>T (p.Gln826His) n.2542A>T c.*319A>T (n.*319A>T) c.2538A>T (p.Gln846His) n.2588A>T c.2790A>T (p.Gln930His) c.2691A>T (p.Gln897His) c.3105A>T (p.Gln1035His) | |
16 | g.9764595T>C | CA493693500 | GRIN2A | c.2949A>G (p.Gln983=) c.2478A>G (p.Gln826=) n.2542A>G c.*319A>G (n.*319A>G) c.2538A>G (p.Gln846=) n.2588A>G c.2790A>G (p.Gln930=) c.2691A>G (p.Gln897=) c.3105A>G (p.Gln1035=) | ClinVar dbSNP gnomAD v4 |
16 | g.9764595T>G | CA394708996 | GRIN2A | c.2949A>C (p.Gln983His) c.2478A>C (p.Gln826His) n.2542A>C c.*319A>C (n.*319A>C) c.2538A>C (p.Gln846His) n.2588A>C c.2790A>C (p.Gln930His) c.2691A>C (p.Gln897His) c.3105A>C (p.Gln1035His) | |
16 | g.9764596T>A | CA394708997 | GRIN2A | c.2948A>T (p.Gln983Leu) c.2477A>T (p.Gln826Leu) n.2541A>T c.*318A>T (n.*318A>T) c.2537A>T (p.Gln846Leu) n.2587A>T c.2789A>T (p.Gln930Leu) c.2690A>T (p.Gln897Leu) c.3104A>T (p.Gln1035Leu) | |
16 | g.9764596T>C | CA394708998 | GRIN2A | c.2948A>G (p.Gln983Arg) c.2477A>G (p.Gln826Arg) n.2541A>G c.*318A>G (n.*318A>G) c.2537A>G (p.Gln846Arg) n.2587A>G c.2789A>G (p.Gln930Arg) c.2690A>G (p.Gln897Arg) c.3104A>G (p.Gln1035Arg) | |
16 | g.9764596T>G | CA394708999 | GRIN2A | c.2948A>C (p.Gln983Pro) c.2477A>C (p.Gln826Pro) n.2541A>C c.*318A>C (n.*318A>C) c.2537A>C (p.Gln846Pro) n.2587A>C c.2789A>C (p.Gln930Pro) c.2690A>C (p.Gln897Pro) c.3104A>C (p.Gln1035Pro) | |
16 | g.9764597G>A | CA394709000 | GRIN2A | c.2947C>T (p.Gln983Ter) c.2476C>T (p.Gln826Ter) n.2540C>T c.*317C>T (n.*317C>T) c.2536C>T (p.Gln846Ter) n.2586C>T c.2788C>T (p.Gln930Ter) c.2689C>T (p.Gln897Ter) c.3103C>T (p.Gln1035Ter) | dbSNP |
16 | g.9764597G>C | CA394709002 | GRIN2A | c.2947C>G (p.Gln983Glu) c.2476C>G (p.Gln826Glu) n.2540C>G c.*317C>G (n.*317C>G) c.2536C>G (p.Gln846Glu) n.2586C>G c.2788C>G (p.Gln930Glu) c.2689C>G (p.Gln897Glu) c.3103C>G (p.Gln1035Glu) | dbSNP |
16 | g.9764597G= | CA2206693315 | GRIN2A | c.2947C= (p.Gln983=) c.2476C= (p.Gln826=) n.2540C= c.*317C= (n.*317C=) c.2536C= (p.Gln846=) n.2586C= c.2788C= (p.Gln930=) c.2689C= (p.Gln897=) c.3103C= (p.Gln1035=) | |
16 | g.9764597G>T | CA394709001 | GRIN2A | c.2947C>A (p.Gln983Lys) c.2476C>A (p.Gln826Lys) n.2540C>A c.*317C>A (n.*317C>A) c.2536C>A (p.Gln846Lys) n.2586C>A c.2788C>A (p.Gln930Lys) c.2689C>A (p.Gln897Lys) c.3103C>A (p.Gln1035Lys) | dbSNP |
16 | g.9764598T>A | CA493693503 | GRIN2A | c.2946A>T (p.Gly982=) c.2475A>T (p.Gly825=) n.2539A>T c.*316A>T (n.*316A>T) c.2535A>T (p.Gly845=) n.2585A>T c.2787A>T (p.Gly929=) c.2688A>T (p.Gly896=) c.3102A>T (p.Gly1034=) | dbSNP |
16 | g.9764598T>C | CA493693504 | GRIN2A | c.2946A>G (p.Gly982=) c.2475A>G (p.Gly825=) n.2539A>G c.*316A>G (n.*316A>G) c.2535A>G (p.Gly845=) n.2585A>G c.2787A>G (p.Gly929=) c.2688A>G (p.Gly896=) c.3102A>G (p.Gly1034=) | |
16 | g.9764598T>G | CA493693505 | GRIN2A | c.2946A>C (p.Gly982=) c.2475A>C (p.Gly825=) n.2539A>C c.*316A>C (n.*316A>C) c.2535A>C (p.Gly845=) n.2585A>C c.2787A>C (p.Gly929=) c.2688A>C (p.Gly896=) c.3102A>C (p.Gly1034=) | dbSNP |
16 | g.9764599C>A | CA394709003 | GRIN2A | c.2945G>T (p.Gly982Val) c.2474G>T (p.Gly825Val) n.2538G>T c.*315G>T (n.*315G>T) c.2534G>T (p.Gly845Val) n.2584G>T c.2786G>T (p.Gly929Val) c.2687G>T (p.Gly896Val) c.3101G>T (p.Gly1034Val) | dbSNP |
16 | g.9764599C= | CA2206693316 | GRIN2A | c.2945G= (p.Gly982=) c.2474G= (p.Gly825=) n.2538G= c.*315G= (n.*315G=) c.2534G= (p.Gly845=) n.2584G= c.2786G= (p.Gly929=) c.2687G= (p.Gly896=) c.3101G= (p.Gly1034=) | |
16 | g.9764599C>G | CA394709004 | GRIN2A | c.2945G>C (p.Gly982Ala) c.2474G>C (p.Gly825Ala) n.2538G>C c.*315G>C (n.*315G>C) c.2534G>C (p.Gly845Ala) n.2584G>C c.2786G>C (p.Gly929Ala) c.2687G>C (p.Gly896Ala) c.3101G>C (p.Gly1034Ala) | dbSNP |
16 | g.9764599C>T | CA7896402 | GRIN2A | c.2945G>A (p.Gly982Glu) c.2474G>A (p.Gly825Glu) n.2538G>A c.*315G>A (n.*315G>A) c.2534G>A (p.Gly845Glu) n.2584G>A c.2786G>A (p.Gly929Glu) c.2687G>A (p.Gly896Glu) c.3101G>A (p.Gly1034Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764600C>A | CA394709005 | GRIN2A | c.2944G>T (p.Gly982Ter) c.2473G>T (p.Gly825Ter) n.2537G>T c.*314G>T (n.*314G>T) c.2533G>T (p.Gly845Ter) n.2583G>T c.2785G>T (p.Gly929Ter) c.2686G>T (p.Gly896Ter) c.3100G>T (p.Gly1034Ter) | dbSNP |
16 | g.9764600C= | CA2206693317 | GRIN2A | c.2944G= (p.Gly982=) c.2473G= (p.Gly825=) n.2537G= c.*314G= (n.*314G=) c.2533G= (p.Gly845=) n.2583G= c.2785G= (p.Gly929=) c.2686G= (p.Gly896=) c.3100G= (p.Gly1034=) | |
16 | g.9764600C>G | CA394709006 | GRIN2A | c.2944G>C (p.Gly982Arg) c.2473G>C (p.Gly825Arg) n.2537G>C c.*314G>C (n.*314G>C) c.2533G>C (p.Gly845Arg) n.2583G>C c.2785G>C (p.Gly929Arg) c.2686G>C (p.Gly896Arg) c.3100G>C (p.Gly1034Arg) | |
16 | g.9764600C>T | CA394709007 | GRIN2A | c.2944G>A (p.Gly982Arg) c.2473G>A (p.Gly825Arg) n.2537G>A c.*314G>A (n.*314G>A) c.2533G>A (p.Gly845Arg) n.2583G>A c.2785G>A (p.Gly929Arg) c.2686G>A (p.Gly896Arg) c.3100G>A (p.Gly1034Arg) | dbSNP |
16 | g.9764601C>A | CA394709008 | GRIN2A | c.2943G>T (p.Gln981His) c.2472G>T (p.Gln824His) n.2536G>T c.*313G>T (n.*313G>T) c.2532G>T (p.Gln844His) n.2582G>T c.2784G>T (p.Gln928His) c.2685G>T (p.Gln895His) c.3099G>T (p.Gln1033His) | dbSNP |
16 | g.9764601C>G | CA394709009 | GRIN2A | c.2943G>C (p.Gln981His) c.2472G>C (p.Gln824His) n.2536G>C c.*313G>C (n.*313G>C) c.2532G>C (p.Gln844His) n.2582G>C c.2784G>C (p.Gln928His) c.2685G>C (p.Gln895His) c.3099G>C (p.Gln1033His) | |
16 | g.9764601C>T | CA493693509 | GRIN2A | c.2943G>A (p.Gln981=) c.2472G>A (p.Gln824=) n.2536G>A c.*313G>A (n.*313G>A) c.2532G>A (p.Gln844=) n.2582G>A c.2784G>A (p.Gln928=) c.2685G>A (p.Gln895=) c.3099G>A (p.Gln1033=) | dbSNP |
16 | g.9764602T>A | CA394709010 | GRIN2A | c.2942A>T (p.Gln981Leu) c.2471A>T (p.Gln824Leu) n.2535A>T c.*312A>T (n.*312A>T) c.2531A>T (p.Gln844Leu) n.2581A>T c.2783A>T (p.Gln928Leu) c.2684A>T (p.Gln895Leu) c.3098A>T (p.Gln1033Leu) | |
16 | g.9764602T>C | CA394709011 | GRIN2A | c.2942A>G (p.Gln981Arg) c.2471A>G (p.Gln824Arg) n.2535A>G c.*312A>G (n.*312A>G) c.2531A>G (p.Gln844Arg) n.2581A>G c.2783A>G (p.Gln928Arg) c.2684A>G (p.Gln895Arg) c.3098A>G (p.Gln1033Arg) | dbSNP |
16 | g.9764602T>G | CA394709012 | GRIN2A | c.2942A>C (p.Gln981Pro) c.2471A>C (p.Gln824Pro) n.2535A>C c.*312A>C (n.*312A>C) c.2531A>C (p.Gln844Pro) n.2581A>C c.2783A>C (p.Gln928Pro) c.2684A>C (p.Gln895Pro) c.3098A>C (p.Gln1033Pro) | |
16 | g.9764602T= | CA2206693318 | GRIN2A | c.2942A= (p.Gln981=) c.2471A= (p.Gln824=) n.2535A= c.*312A= (n.*312A=) c.2531A= (p.Gln844=) n.2581A= c.2783A= (p.Gln928=) c.2684A= (p.Gln895=) c.3098A= (p.Gln1033=) | |
16 | g.9764603G>A | CA394709015 | GRIN2A | c.2941C>T (p.Gln981Ter) c.2470C>T (p.Gln824Ter) n.2534C>T c.*311C>T (n.*311C>T) c.2530C>T (p.Gln844Ter) n.2580C>T c.2782C>T (p.Gln928Ter) c.2683C>T (p.Gln895Ter) c.3097C>T (p.Gln1033Ter) | dbSNP |
16 | g.9764603G>C | CA394709014 | GRIN2A | c.2941C>G (p.Gln981Glu) c.2470C>G (p.Gln824Glu) n.2534C>G c.*311C>G (n.*311C>G) c.2530C>G (p.Gln844Glu) n.2580C>G c.2782C>G (p.Gln928Glu) c.2683C>G (p.Gln895Glu) c.3097C>G (p.Gln1033Glu) | dbSNP |
16 | g.9764603G= | CA2206693319 | GRIN2A | c.2941C= (p.Gln981=) c.2470C= (p.Gln824=) n.2534C= c.*311C= (n.*311C=) c.2530C= (p.Gln844=) n.2580C= c.2782C= (p.Gln928=) c.2683C= (p.Gln895=) c.3097C= (p.Gln1033=) | |
16 | g.9764603G>T | CA394709013 | GRIN2A | c.2941C>A (p.Gln981Lys) c.2470C>A (p.Gln824Lys) n.2534C>A c.*311C>A (n.*311C>A) c.2530C>A (p.Gln844Lys) n.2580C>A c.2782C>A (p.Gln928Lys) c.2683C>A (p.Gln895Lys) c.3097C>A (p.Gln1033Lys) | |
16 | g.9764604G>A | CA493693060 | GRIN2A | c.2940C>T (p.Phe980=) c.2469C>T (p.Phe823=) n.2533C>T c.*310C>T (n.*310C>T) c.2529C>T (p.Phe843=) n.2579C>T c.2781C>T (p.Phe927=) c.2682C>T (p.Phe894=) c.3096C>T (p.Phe1032=) | dbSNP |
16 | g.9764604G>C | CA394709017 | GRIN2A | c.2940C>G (p.Phe980Leu) c.2469C>G (p.Phe823Leu) n.2533C>G c.*310C>G (n.*310C>G) c.2529C>G (p.Phe843Leu) n.2579C>G c.2781C>G (p.Phe927Leu) c.2682C>G (p.Phe894Leu) c.3096C>G (p.Phe1032Leu) | dbSNP |
16 | g.9764604G= | CA2206693320 | GRIN2A | c.2940C= (p.Phe980=) c.2469C= (p.Phe823=) n.2533C= c.*310C= (n.*310C=) c.2529C= (p.Phe843=) n.2579C= c.2781C= (p.Phe927=) c.2682C= (p.Phe894=) c.3096C= (p.Phe1032=) | |
16 | g.9764604G>T | CA394709016 | GRIN2A | c.2940C>A (p.Phe980Leu) c.2469C>A (p.Phe823Leu) n.2533C>A c.*310C>A (n.*310C>A) c.2529C>A (p.Phe843Leu) n.2579C>A c.2781C>A (p.Phe927Leu) c.2682C>A (p.Phe894Leu) c.3096C>A (p.Phe1032Leu) | ClinVar dbSNP |
16 | g.9764605A= | CA2206693321 | GRIN2A | c.2939T= (p.Phe980=) c.2468T= (p.Phe823=) n.2532T= c.*309T= (n.*309T=) c.2528T= (p.Phe843=) n.2578T= c.2780T= (p.Phe927=) c.2681T= (p.Phe894=) c.3095T= (p.Phe1032=) | |
16 | g.9764605A>C | CA394709020 | GRIN2A | c.2939T>G (p.Phe980Cys) c.2468T>G (p.Phe823Cys) n.2532T>G c.*309T>G (n.*309T>G) c.2528T>G (p.Phe843Cys) n.2578T>G c.2780T>G (p.Phe927Cys) c.2681T>G (p.Phe894Cys) c.3095T>G (p.Phe1032Cys) | |
16 | g.9764605A>G | CA394709018 | GRIN2A | c.2939T>C (p.Phe980Ser) c.2468T>C (p.Phe823Ser) n.2532T>C c.*309T>C (n.*309T>C) c.2528T>C (p.Phe843Ser) n.2578T>C c.2780T>C (p.Phe927Ser) c.2681T>C (p.Phe894Ser) c.3095T>C (p.Phe1032Ser) | dbSNP |
16 | g.9764605A>T | CA394709019 | GRIN2A | c.2939T>A (p.Phe980Tyr) c.2468T>A (p.Phe823Tyr) n.2532T>A c.*309T>A (n.*309T>A) c.2528T>A (p.Phe843Tyr) n.2578T>A c.2780T>A (p.Phe927Tyr) c.2681T>A (p.Phe894Tyr) c.3095T>A (p.Phe1032Tyr) | |
16 | g.9764606A>C | CA394709021 | GRIN2A | c.2938T>G (p.Phe980Val) c.2467T>G (p.Phe823Val) n.2531T>G c.*308T>G (n.*308T>G) c.2527T>G (p.Phe843Val) n.2577T>G c.2779T>G (p.Phe927Val) c.2680T>G (p.Phe894Val) c.3094T>G (p.Phe1032Val) | |
16 | g.9764606A>G | CA394709022 | GRIN2A | c.2938T>C (p.Phe980Leu) c.2467T>C (p.Phe823Leu) n.2531T>C c.*308T>C (n.*308T>C) c.2527T>C (p.Phe843Leu) n.2577T>C c.2779T>C (p.Phe927Leu) c.2680T>C (p.Phe894Leu) c.3094T>C (p.Phe1032Leu) | dbSNP |
16 | g.9764606A>T | CA394709023 | GRIN2A | c.2938T>A (p.Phe980Ile) c.2467T>A (p.Phe823Ile) n.2531T>A c.*308T>A (n.*308T>A) c.2527T>A (p.Phe843Ile) n.2577T>A c.2779T>A (p.Phe927Ile) c.2680T>A (p.Phe894Ile) c.3094T>A (p.Phe1032Ile) | |
16 | g.9764607T>A | CA493693064 | GRIN2A | c.2937A>T (p.Val979=) c.2466A>T (p.Val822=) n.2530A>T c.*307A>T (n.*307A>T) c.2526A>T (p.Val842=) n.2576A>T c.2778A>T (p.Val926=) c.2679A>T (p.Val893=) c.3093A>T (p.Val1031=) | |
16 | g.9764607T>C | CA493693065 | GRIN2A | c.2937A>G (p.Val979=) c.2466A>G (p.Val822=) n.2530A>G c.*307A>G (n.*307A>G) c.2526A>G (p.Val842=) n.2576A>G c.2778A>G (p.Val926=) c.2679A>G (p.Val893=) c.3093A>G (p.Val1031=) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.9764607T>G | CA493693066 | GRIN2A | c.2937A>C (p.Val979=) c.2466A>C (p.Val822=) n.2530A>C c.*307A>C (n.*307A>C) c.2526A>C (p.Val842=) n.2576A>C c.2778A>C (p.Val926=) c.2679A>C (p.Val893=) c.3093A>C (p.Val1031=) | dbSNP |
16 | g.9764608A>C | CA394709024 | GRIN2A | c.2936T>G (p.Val979Gly) c.2465T>G (p.Val822Gly) n.2529T>G c.*306T>G (n.*306T>G) c.2525T>G (p.Val842Gly) n.2575T>G c.2777T>G (p.Val926Gly) c.2678T>G (p.Val893Gly) c.3092T>G (p.Val1031Gly) | |
16 | g.9764608A>G | CA394709025 | GRIN2A | c.2936T>C (p.Val979Ala) c.2465T>C (p.Val822Ala) n.2529T>C c.*306T>C (n.*306T>C) c.2525T>C (p.Val842Ala) n.2575T>C c.2777T>C (p.Val926Ala) c.2678T>C (p.Val893Ala) c.3092T>C (p.Val1031Ala) | |
16 | g.9764608A>T | CA394709026 | GRIN2A | c.2936T>A (p.Val979Glu) c.2465T>A (p.Val822Glu) n.2529T>A c.*306T>A (n.*306T>A) c.2525T>A (p.Val842Glu) n.2575T>A c.2777T>A (p.Val926Glu) c.2678T>A (p.Val893Glu) c.3092T>A (p.Val1031Glu) | dbSNP |
16 | g.9764609C>A | CA394709027 | GRIN2A | c.2935G>T (p.Val979Leu) c.2464G>T (p.Val822Leu) n.2528G>T c.*305G>T (n.*305G>T) c.2524G>T (p.Val842Leu) n.2574G>T c.2776G>T (p.Val926Leu) c.2677G>T (p.Val893Leu) c.3091G>T (p.Val1031Leu) | |
16 | g.9764609C= | CA2206693322 | GRIN2A | c.2935G= (p.Val979=) c.2464G= (p.Val822=) n.2528G= c.*305G= (n.*305G=) c.2524G= (p.Val842=) n.2574G= c.2776G= (p.Val926=) c.2677G= (p.Val893=) c.3091G= (p.Val1031=) | |
16 | g.9764609C>G | CA394709028 | GRIN2A | c.2935G>C (p.Val979Leu) c.2464G>C (p.Val822Leu) n.2528G>C c.*305G>C (n.*305G>C) c.2524G>C (p.Val842Leu) n.2574G>C c.2776G>C (p.Val926Leu) c.2677G>C (p.Val893Leu) c.3091G>C (p.Val1031Leu) | dbSNP |
16 | g.9764609C>T | CA277538244 | GRIN2A | c.2935G>A (p.Val979Ile) c.2464G>A (p.Val822Ile) n.2528G>A c.*305G>A (n.*305G>A) c.2524G>A (p.Val842Ile) n.2574G>A c.2776G>A (p.Val926Ile) c.2677G>A (p.Val893Ile) c.3091G>A (p.Val1031Ile) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764610A= | CA2206693323 | GRIN2A | c.2934T= (p.Tyr978=) c.2463T= (p.Tyr821=) n.2527T= c.*304T= (n.*304T=) c.2523T= (p.Tyr841=) n.2573T= c.2775T= (p.Tyr925=) c.2676T= (p.Tyr892=) c.3090T= (p.Tyr1030=) | |
16 | g.9764610A>C | CA394709029 | GRIN2A | c.2934T>G (p.Tyr978Ter) c.2463T>G (p.Tyr821Ter) n.2527T>G c.*304T>G (n.*304T>G) c.2523T>G (p.Tyr841Ter) n.2573T>G c.2775T>G (p.Tyr925Ter) c.2676T>G (p.Tyr892Ter) c.3090T>G (p.Tyr1030Ter) | dbSNP |
16 | g.9764610A>G | CA493693071 | GRIN2A | c.2934T>C (p.Tyr978=) c.2463T>C (p.Tyr821=) n.2527T>C c.*304T>C (n.*304T>C) c.2523T>C (p.Tyr841=) n.2573T>C c.2775T>C (p.Tyr925=) c.2676T>C (p.Tyr892=) c.3090T>C (p.Tyr1030=) | gnomAD v4 |
16 | g.9764610A>T | CA394709030 | GRIN2A | c.2934T>A (p.Tyr978Ter) c.2463T>A (p.Tyr821Ter) n.2527T>A c.*304T>A (n.*304T>A) c.2523T>A (p.Tyr841Ter) n.2573T>A c.2775T>A (p.Tyr925Ter) c.2676T>A (p.Tyr892Ter) c.3090T>A (p.Tyr1030Ter) | dbSNP |
16 | g.9764611T>A | CA394709031 | GRIN2A | c.2933A>T (p.Tyr978Phe) c.2462A>T (p.Tyr821Phe) n.2526A>T c.*303A>T (n.*303A>T) c.2522A>T (p.Tyr841Phe) n.2572A>T c.2774A>T (p.Tyr925Phe) c.2675A>T (p.Tyr892Phe) c.3089A>T (p.Tyr1030Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.9764611T>C | CA277538262 | GRIN2A | c.2933A>G (p.Tyr978Cys) c.2462A>G (p.Tyr821Cys) n.2526A>G c.*303A>G (n.*303A>G) c.2522A>G (p.Tyr841Cys) n.2572A>G c.2774A>G (p.Tyr925Cys) c.2675A>G (p.Tyr892Cys) c.3089A>G (p.Tyr1030Cys) | dbSNP gnomAD v4 |
16 | g.9764611T>G | CA394709032 | GRIN2A | c.2933A>C (p.Tyr978Ser) c.2462A>C (p.Tyr821Ser) n.2526A>C c.*303A>C (n.*303A>C) c.2522A>C (p.Tyr841Ser) n.2572A>C c.2774A>C (p.Tyr925Ser) c.2675A>C (p.Tyr892Ser) c.3089A>C (p.Tyr1030Ser) | gnomAD v4 |
16 | g.9764611T= | CA2206693324 | GRIN2A | c.2933A= (p.Tyr978=) c.2462A= (p.Tyr821=) n.2526A= c.*303A= (n.*303A=) c.2522A= (p.Tyr841=) n.2572A= c.2774A= (p.Tyr925=) c.2675A= (p.Tyr892=) c.3089A= (p.Tyr1030=) | |
16 | g.9764612A>C | CA394709033 | GRIN2A | c.2932T>G (p.Tyr978Asp) c.2461T>G (p.Tyr821Asp) n.2525T>G c.*302T>G (n.*302T>G) c.2521T>G (p.Tyr841Asp) n.2571T>G c.2773T>G (p.Tyr925Asp) c.2674T>G (p.Tyr892Asp) c.3088T>G (p.Tyr1030Asp) | |
16 | g.9764612A>G | CA394709034 | GRIN2A | c.2932T>C (p.Tyr978His) c.2461T>C (p.Tyr821His) n.2525T>C c.*302T>C (n.*302T>C) c.2521T>C (p.Tyr841His) n.2571T>C c.2773T>C (p.Tyr925His) c.2674T>C (p.Tyr892His) c.3088T>C (p.Tyr1030His) | |
16 | g.9764612A>T | CA394709035 | GRIN2A | c.2932T>A (p.Tyr978Asn) c.2461T>A (p.Tyr821Asn) n.2525T>A c.*302T>A (n.*302T>A) c.2521T>A (p.Tyr841Asn) n.2571T>A c.2773T>A (p.Tyr925Asn) c.2674T>A (p.Tyr892Asn) c.3088T>A (p.Tyr1030Asn) | |
16 | g.9764613G>A | CA493693077 | GRIN2A | c.2931C>T (p.Asn977=) c.2460C>T (p.Asn820=) n.2524C>T c.*301C>T (n.*301C>T) c.2520C>T (p.Asn840=) n.2570C>T c.2772C>T (p.Asn924=) c.2673C>T (p.Asn891=) c.3087C>T (p.Asn1029=) | |
16 | g.9764613G>C | CA394709036 | GRIN2A | c.2931C>G (p.Asn977Lys) c.2460C>G (p.Asn820Lys) n.2524C>G c.*301C>G (n.*301C>G) c.2520C>G (p.Asn840Lys) n.2570C>G c.2772C>G (p.Asn924Lys) c.2673C>G (p.Asn891Lys) c.3087C>G (p.Asn1029Lys) | dbSNP |
16 | g.9764613G>T | CA394709037 | GRIN2A | c.2931C>A (p.Asn977Lys) c.2460C>A (p.Asn820Lys) n.2524C>A c.*301C>A (n.*301C>A) c.2520C>A (p.Asn840Lys) n.2570C>A c.2772C>A (p.Asn924Lys) c.2673C>A (p.Asn891Lys) c.3087C>A (p.Asn1029Lys) | dbSNP |
16 | g.9764614T>A | CA394709038 | GRIN2A | c.2930A>T (p.Asn977Ile) c.2459A>T (p.Asn820Ile) n.2523A>T c.*300A>T (n.*300A>T) c.2519A>T (p.Asn840Ile) n.2569A>T c.2771A>T (p.Asn924Ile) c.2672A>T (p.Asn891Ile) c.3086A>T (p.Asn1029Ile) | |
16 | g.9764614T>C | CA394709039 | GRIN2A | c.2930A>G (p.Asn977Ser) c.2459A>G (p.Asn820Ser) n.2523A>G c.*300A>G (n.*300A>G) c.2519A>G (p.Asn840Ser) n.2569A>G c.2771A>G (p.Asn924Ser) c.2672A>G (p.Asn891Ser) c.3086A>G (p.Asn1029Ser) | ClinVar dbSNP |
16 | g.9764614T>G | CA394709040 | GRIN2A | c.2930A>C (p.Asn977Thr) c.2459A>C (p.Asn820Thr) n.2523A>C c.*300A>C (n.*300A>C) c.2519A>C (p.Asn840Thr) n.2569A>C c.2771A>C (p.Asn924Thr) c.2672A>C (p.Asn891Thr) c.3086A>C (p.Asn1029Thr) | COSMIC |
16 | g.9764614T= | CA2206693325 | GRIN2A | c.2930A= (p.Asn977=) c.2459A= (p.Asn820=) n.2523A= c.*300A= (n.*300A=) c.2519A= (p.Asn840=) n.2569A= c.2771A= (p.Asn924=) c.2672A= (p.Asn891=) c.3086A= (p.Asn1029=) | |
16 | g.9764615T>A | CA394709041 | GRIN2A | c.2929A>T (p.Asn977Tyr) c.2458A>T (p.Asn820Tyr) n.2522A>T c.*299A>T (n.*299A>T) c.2518A>T (p.Asn840Tyr) n.2568A>T c.2770A>T (p.Asn924Tyr) c.2671A>T (p.Asn891Tyr) c.3085A>T (p.Asn1029Tyr) | |
16 | g.9764615T>C | CA394709042 | GRIN2A | c.2929A>G (p.Asn977Asp) c.2458A>G (p.Asn820Asp) n.2522A>G c.*299A>G (n.*299A>G) c.2518A>G (p.Asn840Asp) n.2568A>G c.2770A>G (p.Asn924Asp) c.2671A>G (p.Asn891Asp) c.3085A>G (p.Asn1029Asp) | |
16 | g.9764615T>G | CA7896403 | GRIN2A | c.2929A>C (p.Asn977His) c.2458A>C (p.Asn820His) n.2522A>C c.*299A>C (n.*299A>C) c.2518A>C (p.Asn840His) n.2568A>C c.2770A>C (p.Asn924His) c.2671A>C (p.Asn891His) c.3085A>C (p.Asn1029His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764615T= | CA2206693326 | GRIN2A | c.2929A= (p.Asn977=) c.2458A= (p.Asn820=) n.2522A= c.*299A= (n.*299A=) c.2518A= (p.Asn840=) n.2568A= c.2770A= (p.Asn924=) c.2671A= (p.Asn891=) c.3085A= (p.Asn1029=) | |
16 | g.9764616A= | CA2206693327 | GRIN2A | c.2928T= (p.Asn976=) c.2457T= (p.Asn819=) n.2521T= c.*298T= (n.*298T=) c.2517T= (p.Asn839=) n.2567T= c.2769T= (p.Asn923=) c.2670T= (p.Asn890=) c.3084T= (p.Asn1028=) | |
16 | g.9764616A>C | CA394709044 | GRIN2A | c.2928T>G (p.Asn976Lys) c.2457T>G (p.Asn819Lys) n.2521T>G c.*298T>G (n.*298T>G) c.2517T>G (p.Asn839Lys) n.2567T>G c.2769T>G (p.Asn923Lys) c.2670T>G (p.Asn890Lys) c.3084T>G (p.Asn1028Lys) | |
16 | g.9764616A>G | CA493693083 | GRIN2A | c.2928T>C (p.Asn976=) c.2457T>C (p.Asn819=) n.2521T>C c.*298T>C (n.*298T>C) c.2517T>C (p.Asn839=) n.2567T>C c.2769T>C (p.Asn923=) c.2670T>C (p.Asn890=) c.3084T>C (p.Asn1028=) | |
16 | g.9764616A>T | CA394709043 | GRIN2A | c.2928T>A (p.Asn976Lys) c.2457T>A (p.Asn819Lys) n.2521T>A c.*298T>A (n.*298T>A) c.2517T>A (p.Asn839Lys) n.2567T>A c.2769T>A (p.Asn923Lys) c.2670T>A (p.Asn890Lys) c.3084T>A (p.Asn1028Lys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764617T>A | CA394709045 | GRIN2A | c.2927A>T (p.Asn976Ile) c.2456A>T (p.Asn819Ile) n.2520A>T c.*297A>T (n.*297A>T) c.2516A>T (p.Asn839Ile) n.2566A>T c.2768A>T (p.Asn923Ile) c.2669A>T (p.Asn890Ile) c.3083A>T (p.Asn1028Ile) | |
16 | g.9764617T>C | CA10588015 | GRIN2A | c.2927A>G (p.Asn976Ser) c.2456A>G (p.Asn819Ser) n.2520A>G c.*297A>G (n.*297A>G) c.2516A>G (p.Asn839Ser) n.2566A>G c.2768A>G (p.Asn923Ser) c.2669A>G (p.Asn890Ser) c.3083A>G (p.Asn1028Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764617T>G | CA394709046 | GRIN2A | c.2927A>C (p.Asn976Thr) c.2456A>C (p.Asn819Thr) n.2520A>C c.*297A>C (n.*297A>C) c.2516A>C (p.Asn839Thr) n.2566A>C c.2768A>C (p.Asn923Thr) c.2669A>C (p.Asn890Thr) c.3083A>C (p.Asn1028Thr) | |
16 | g.9764617T= | CA2206693328 | GRIN2A | c.2927A= (p.Asn976=) c.2456A= (p.Asn819=) n.2520A= c.*297A= (n.*297A=) c.2516A= (p.Asn839=) n.2566A= c.2768A= (p.Asn923=) c.2669A= (p.Asn890=) c.3083A= (p.Asn1028=) | |
16 | g.9764618T>A | CA394709047 | GRIN2A | c.2926A>T (p.Asn976Tyr) c.2455A>T (p.Asn819Tyr) n.2519A>T c.*296A>T (n.*296A>T) c.2515A>T (p.Asn839Tyr) n.2565A>T c.2767A>T (p.Asn923Tyr) c.2668A>T (p.Asn890Tyr) c.3082A>T (p.Asn1028Tyr) | |
16 | g.9764618T>C | CA394709048 | GRIN2A | c.2926A>G (p.Asn976Asp) c.2455A>G (p.Asn819Asp) n.2519A>G c.*296A>G (n.*296A>G) c.2515A>G (p.Asn839Asp) n.2565A>G c.2767A>G (p.Asn923Asp) c.2668A>G (p.Asn890Asp) c.3082A>G (p.Asn1028Asp) | |
16 | g.9764618T>G | CA394709049 | GRIN2A | c.2926A>C (p.Asn976His) c.2455A>C (p.Asn819His) n.2519A>C c.*296A>C (n.*296A>C) c.2515A>C (p.Asn839His) n.2565A>C c.2767A>C (p.Asn923His) c.2668A>C (p.Asn890His) c.3082A>C (p.Asn1028His) | gnomAD v4 |
16 | g.9764619G>A | CA493693093 | GRIN2A | c.2925C>T (p.Leu975=) c.2454C>T (p.Leu818=) n.2518C>T c.*295C>T (n.*295C>T) c.2514C>T (p.Leu838=) n.2564C>T c.2766C>T (p.Leu922=) c.2667C>T (p.Leu889=) c.3081C>T (p.Leu1027=) | dbSNP |
16 | g.9764619G>C | CA493693092 | GRIN2A | c.2925C>G (p.Leu975=) c.2454C>G (p.Leu818=) n.2518C>G c.*295C>G (n.*295C>G) c.2514C>G (p.Leu838=) n.2564C>G c.2766C>G (p.Leu922=) c.2667C>G (p.Leu889=) c.3081C>G (p.Leu1027=) | dbSNP |
16 | g.9764619G= | CA2206693329 | GRIN2A | c.2925C= (p.Leu975=) c.2454C= (p.Leu818=) n.2518C= c.*295C= (n.*295C=) c.2514C= (p.Leu838=) n.2564C= c.2766C= (p.Leu922=) c.2667C= (p.Leu889=) c.3081C= (p.Leu1027=) | |
16 | g.9764619G>T | CA493693090 | GRIN2A | c.2925C>A (p.Leu975=) c.2454C>A (p.Leu818=) n.2518C>A c.*295C>A (n.*295C>A) c.2514C>A (p.Leu838=) n.2564C>A c.2766C>A (p.Leu922=) c.2667C>A (p.Leu889=) c.3081C>A (p.Leu1027=) | dbSNP |
16 | g.9764620A>C | CA394709050 | GRIN2A | c.2924T>G (p.Leu975Arg) c.2453T>G (p.Leu818Arg) n.2517T>G c.*294T>G (n.*294T>G) c.2513T>G (p.Leu838Arg) n.2563T>G c.2765T>G (p.Leu922Arg) c.2666T>G (p.Leu889Arg) c.3080T>G (p.Leu1027Arg) | |
16 | g.9764620A>G | CA394709051 | GRIN2A | c.2924T>C (p.Leu975Pro) c.2453T>C (p.Leu818Pro) n.2517T>C c.*294T>C (n.*294T>C) c.2513T>C (p.Leu838Pro) n.2563T>C c.2765T>C (p.Leu922Pro) c.2666T>C (p.Leu889Pro) c.3080T>C (p.Leu1027Pro) | dbSNP |
16 | g.9764620A>T | CA394709052 | GRIN2A | c.2924T>A (p.Leu975His) c.2453T>A (p.Leu818His) n.2517T>A c.*294T>A (n.*294T>A) c.2513T>A (p.Leu838His) n.2563T>A c.2765T>A (p.Leu922His) c.2666T>A (p.Leu889His) c.3080T>A (p.Leu1027His) | dbSNP |
16 | g.9764621G>A | CA394709053 | GRIN2A | c.2923C>T (p.Leu975Phe) c.2452C>T (p.Leu818Phe) n.2516C>T c.*293C>T (n.*293C>T) c.2512C>T (p.Leu838Phe) n.2562C>T c.2764C>T (p.Leu922Phe) c.2665C>T (p.Leu889Phe) c.3079C>T (p.Leu1027Phe) | dbSNP |
16 | g.9764621G>C | CA394709054 | GRIN2A | c.2923C>G (p.Leu975Val) c.2452C>G (p.Leu818Val) n.2516C>G c.*293C>G (n.*293C>G) c.2512C>G (p.Leu838Val) n.2562C>G c.2764C>G (p.Leu922Val) c.2665C>G (p.Leu889Val) c.3079C>G (p.Leu1027Val) | dbSNP |
16 | g.9764621G>T | CA394709055 | GRIN2A | c.2923C>A (p.Leu975Ile) c.2452C>A (p.Leu818Ile) n.2516C>A c.*293C>A (n.*293C>A) c.2512C>A (p.Leu838Ile) n.2562C>A c.2764C>A (p.Leu922Ile) c.2665C>A (p.Leu889Ile) c.3079C>A (p.Leu1027Ile) | dbSNP gnomAD v4 |
16 | g.9764622G>A | CA493693097 | GRIN2A | c.2922C>T (p.Asn974=) c.2451C>T (p.Asn817=) n.2515C>T c.*292C>T (n.*292C>T) c.2511C>T (p.Asn837=) n.2561C>T c.2763C>T (p.Asn921=) c.2664C>T (p.Asn888=) c.3078C>T (p.Asn1026=) | |
16 | g.9764622G>C | CA394709056 | GRIN2A | c.2922C>G (p.Asn974Lys) c.2451C>G (p.Asn817Lys) n.2515C>G c.*292C>G (n.*292C>G) c.2511C>G (p.Asn837Lys) n.2561C>G c.2763C>G (p.Asn921Lys) c.2664C>G (p.Asn888Lys) c.3078C>G (p.Asn1026Lys) | |
16 | g.9764622G>T | CA394709057 | GRIN2A | c.2922C>A (p.Asn974Lys) c.2451C>A (p.Asn817Lys) n.2515C>A c.*292C>A (n.*292C>A) c.2511C>A (p.Asn837Lys) n.2561C>A c.2763C>A (p.Asn921Lys) c.2664C>A (p.Asn888Lys) c.3078C>A (p.Asn1026Lys) | gnomAD v4 |
16 | g.9764623T>A | CA394709060 | GRIN2A | c.2921A>T (p.Asn974Ile) c.2450A>T (p.Asn817Ile) n.2514A>T c.*291A>T (n.*291A>T) c.2510A>T (p.Asn837Ile) n.2560A>T c.2762A>T (p.Asn921Ile) c.2663A>T (p.Asn888Ile) c.3077A>T (p.Asn1026Ile) | dbSNP |
16 | g.9764623T>C | CA394709059 | GRIN2A | c.2921A>G (p.Asn974Ser) c.2450A>G (p.Asn817Ser) n.2514A>G c.*291A>G (n.*291A>G) c.2510A>G (p.Asn837Ser) n.2560A>G c.2762A>G (p.Asn921Ser) c.2663A>G (p.Asn888Ser) c.3077A>G (p.Asn1026Ser) | dbSNP |
16 | g.9764623T>G | CA394709058 | GRIN2A | c.2921A>C (p.Asn974Thr) c.2450A>C (p.Asn817Thr) n.2514A>C c.*291A>C (n.*291A>C) c.2510A>C (p.Asn837Thr) n.2560A>C c.2762A>C (p.Asn921Thr) c.2663A>C (p.Asn888Thr) c.3077A>C (p.Asn1026Thr) | |
16 | g.9764624T>A | CA394709061 | GRIN2A | c.2920A>T (p.Asn974Tyr) c.2449A>T (p.Asn817Tyr) n.2513A>T c.*290A>T (n.*290A>T) c.2509A>T (p.Asn837Tyr) n.2559A>T c.2761A>T (p.Asn921Tyr) c.2662A>T (p.Asn888Tyr) c.3076A>T (p.Asn1026Tyr) | |
16 | g.9764624T>C | CA394709062 | GRIN2A | c.2920A>G (p.Asn974Asp) c.2449A>G (p.Asn817Asp) n.2513A>G c.*290A>G (n.*290A>G) c.2509A>G (p.Asn837Asp) n.2559A>G c.2761A>G (p.Asn921Asp) c.2662A>G (p.Asn888Asp) c.3076A>G (p.Asn1026Asp) | |
16 | g.9764624T>G | CA394709063 | GRIN2A | c.2920A>C (p.Asn974His) c.2449A>C (p.Asn817His) n.2513A>C c.*290A>C (n.*290A>C) c.2509A>C (p.Asn837His) n.2559A>C c.2761A>C (p.Asn921His) c.2662A>C (p.Asn888His) c.3076A>C (p.Asn1026His) | |
16 | g.9764625A= | CA2206693330 | GRIN2A | c.2919T= (p.Asp973=) c.2448T= (p.Asp816=) n.2512T= c.*289T= (n.*289T=) c.2508T= (p.Asp836=) n.2558T= c.2760T= (p.Asp920=) c.2661T= (p.Asp887=) c.3075T= (p.Asp1025=) | |
16 | g.9764625A>C | CA394709064 | GRIN2A | c.2919T>G (p.Asp973Glu) c.2448T>G (p.Asp816Glu) n.2512T>G c.*289T>G (n.*289T>G) c.2508T>G (p.Asp836Glu) n.2558T>G c.2760T>G (p.Asp920Glu) c.2661T>G (p.Asp887Glu) c.3075T>G (p.Asp1025Glu) | dbSNP |
16 | g.9764625A>G | CA493693104 | GRIN2A | c.2919T>C (p.Asp973=) c.2448T>C (p.Asp816=) n.2512T>C c.*289T>C (n.*289T>C) c.2508T>C (p.Asp836=) n.2558T>C c.2760T>C (p.Asp920=) c.2661T>C (p.Asp887=) c.3075T>C (p.Asp1025=) | |
16 | g.9764625A>T | CA394709065 | GRIN2A | c.2919T>A (p.Asp973Glu) c.2448T>A (p.Asp816Glu) n.2512T>A c.*289T>A (n.*289T>A) c.2508T>A (p.Asp836Glu) n.2558T>A c.2760T>A (p.Asp920Glu) c.2661T>A (p.Asp887Glu) c.3075T>A (p.Asp1025Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764626T>A | CA394709066 | GRIN2A | c.2918A>T (p.Asp973Val) c.2447A>T (p.Asp816Val) n.2511A>T c.*288A>T (n.*288A>T) c.2507A>T (p.Asp836Val) n.2557A>T c.2759A>T (p.Asp920Val) c.2660A>T (p.Asp887Val) c.3074A>T (p.Asp1025Val) | |
16 | g.9764626T>C | CA394709067 | GRIN2A | c.2918A>G (p.Asp973Gly) c.2447A>G (p.Asp816Gly) n.2511A>G c.*288A>G (n.*288A>G) c.2507A>G (p.Asp836Gly) n.2557A>G c.2759A>G (p.Asp920Gly) c.2660A>G (p.Asp887Gly) c.3074A>G (p.Asp1025Gly) | |
16 | g.9764626T>G | CA394709068 | GRIN2A | c.2918A>C (p.Asp973Ala) c.2447A>C (p.Asp816Ala) n.2511A>C c.*288A>C (n.*288A>C) c.2507A>C (p.Asp836Ala) n.2557A>C c.2759A>C (p.Asp920Ala) c.2660A>C (p.Asp887Ala) c.3074A>C (p.Asp1025Ala) | |
16 | g.9764627C>A | CA394709069 | GRIN2A | c.2917G>T (p.Asp973Tyr) c.2446G>T (p.Asp816Tyr) n.2510G>T c.*287G>T (n.*287G>T) c.2506G>T (p.Asp836Tyr) n.2556G>T c.2758G>T (p.Asp920Tyr) c.2659G>T (p.Asp887Tyr) c.3073G>T (p.Asp1025Tyr) | dbSNP COSMIC |
16 | g.9764627C= | CA2206693331 | GRIN2A | c.2917G= (p.Asp973=) c.2446G= (p.Asp816=) n.2510G= c.*287G= (n.*287G=) c.2506G= (p.Asp836=) n.2556G= c.2758G= (p.Asp920=) c.2659G= (p.Asp887=) c.3073G= (p.Asp1025=) | |
16 | g.9764627C>G | CA394709070 | GRIN2A | c.2917G>C (p.Asp973His) c.2446G>C (p.Asp816His) n.2510G>C c.*287G>C (n.*287G>C) c.2506G>C (p.Asp836His) n.2556G>C c.2758G>C (p.Asp920His) c.2659G>C (p.Asp887His) c.3073G>C (p.Asp1025His) | dbSNP gnomAD v4 |
16 | g.9764627C>T | CA394709071 | GRIN2A | c.2917G>A (p.Asp973Asn) c.2446G>A (p.Asp816Asn) n.2510G>A c.*287G>A (n.*287G>A) c.2506G>A (p.Asp836Asn) n.2556G>A c.2758G>A (p.Asp920Asn) c.2659G>A (p.Asp887Asn) c.3073G>A (p.Asp1025Asn) | ClinVar dbSNP |
16 | g.9764628_9764643del | CA2731687974 | GRIN2A | c.2902_2917del (p.Ala968IlefsTer28) c.2431_2446del (p.Ala811IlefsTer28) n.2495_2510del c.*272_*287del (n.*272_*287del) c.2491_2506del (p.Ala831IlefsTer28) n.2541_2556del c.2743_2758del (p.Ala915IlefsTer28) c.2644_2659del (p.Ala882IlefsTer28) c.3058_3073del (p.Ala1020IlefsTer28) | dbSNP |
16 | g.9764628C>A | CA394709072 | GRIN2A | c.2916G>T (p.Lys972Asn) c.2445G>T (p.Lys815Asn) n.2509G>T c.*286G>T (n.*286G>T) c.2505G>T (p.Lys835Asn) n.2555G>T c.2757G>T (p.Lys919Asn) c.2658G>T (p.Lys886Asn) c.3072G>T (p.Lys1024Asn) | dbSNP |
16 | g.9764628C= | CA2206693332 | GRIN2A | c.2916G= (p.Lys972=) c.2445G= (p.Lys815=) n.2509G= c.*286G= (n.*286G=) c.2505G= (p.Lys835=) n.2555G= c.2757G= (p.Lys919=) c.2658G= (p.Lys886=) c.3072G= (p.Lys1024=) | |
16 | g.9764628C>G | CA394709073 | GRIN2A | c.2916G>C (p.Lys972Asn) c.2445G>C (p.Lys815Asn) n.2509G>C c.*286G>C (n.*286G>C) c.2505G>C (p.Lys835Asn) n.2555G>C c.2757G>C (p.Lys919Asn) c.2658G>C (p.Lys886Asn) c.3072G>C (p.Lys1024Asn) | dbSNP |
16 | g.9764628C>T | CA493693112 | GRIN2A | c.2916G>A (p.Lys972=) c.2445G>A (p.Lys815=) n.2509G>A c.*286G>A (n.*286G>A) c.2505G>A (p.Lys835=) n.2555G>A c.2757G>A (p.Lys919=) c.2658G>A (p.Lys886=) c.3072G>A (p.Lys1024=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764630_9764632del | CA2631676210 | GRIN2A | c.2914_2916del (p.Lys972del) c.2443_2445del (p.Lys815del) n.2507_2509del c.*284_*286del (n.*284_*286del) c.2503_2505del (p.Lys835del) n.2553_2555del c.2755_2757del (p.Lys919del) c.2656_2658del (p.Lys886del) c.3070_3072del (p.Lys1024del) | gnomAD v4 |
16 | g.9764629T>A | CA394709076 | GRIN2A | c.2915A>T (p.Lys972Met) c.2444A>T (p.Lys815Met) n.2508A>T c.*285A>T (n.*285A>T) c.2504A>T (p.Lys835Met) n.2554A>T c.2756A>T (p.Lys919Met) c.2657A>T (p.Lys886Met) c.3071A>T (p.Lys1024Met) | |
16 | g.9764629T>C | CA394709075 | GRIN2A | c.2915A>G (p.Lys972Arg) c.2444A>G (p.Lys815Arg) n.2508A>G c.*285A>G (n.*285A>G) c.2504A>G (p.Lys835Arg) n.2554A>G c.2756A>G (p.Lys919Arg) c.2657A>G (p.Lys886Arg) c.3071A>G (p.Lys1024Arg) | |
16 | g.9764629T>G | CA394709074 | GRIN2A | c.2915A>C (p.Lys972Thr) c.2444A>C (p.Lys815Thr) n.2508A>C c.*285A>C (n.*285A>C) c.2504A>C (p.Lys835Thr) n.2554A>C c.2756A>C (p.Lys919Thr) c.2657A>C (p.Lys886Thr) c.3071A>C (p.Lys1024Thr) | |
16 | g.9764630T>A | CA394709077 | GRIN2A | c.2914A>T (p.Lys972Ter) c.2443A>T (p.Lys815Ter) n.2507A>T c.*284A>T (n.*284A>T) c.2503A>T (p.Lys835Ter) n.2553A>T c.2755A>T (p.Lys919Ter) c.2656A>T (p.Lys886Ter) c.3070A>T (p.Lys1024Ter) | dbSNP |
16 | g.9764630T>C | CA394709078 | GRIN2A | c.2914A>G (p.Lys972Glu) c.2443A>G (p.Lys815Glu) n.2507A>G c.*284A>G (n.*284A>G) c.2503A>G (p.Lys835Glu) n.2553A>G c.2755A>G (p.Lys919Glu) c.2656A>G (p.Lys886Glu) c.3070A>G (p.Lys1024Glu) | |
16 | g.9764630T>G | CA394709079 | GRIN2A | c.2914A>C (p.Lys972Gln) c.2443A>C (p.Lys815Gln) n.2507A>C c.*284A>C (n.*284A>C) c.2503A>C (p.Lys835Gln) n.2553A>C c.2755A>C (p.Lys919Gln) c.2656A>C (p.Lys886Gln) c.3070A>C (p.Lys1024Gln) | |
16 | g.9764630T= | CA2206693333 | GRIN2A | c.2914A= (p.Lys972=) c.2443A= (p.Lys815=) n.2507A= c.*284A= (n.*284A=) c.2503A= (p.Lys835=) n.2553A= c.2755A= (p.Lys919=) c.2656A= (p.Lys886=) c.3070A= (p.Lys1024=) | |
16 | g.9764631C>A | CA394709080 | GRIN2A | c.2913G>T (p.Gln971His) c.2442G>T (p.Gln814His) n.2506G>T c.*283G>T (n.*283G>T) c.2502G>T (p.Gln834His) n.2552G>T c.2754G>T (p.Gln918His) c.2655G>T (p.Gln885His) c.3069G>T (p.Gln1023His) | |
16 | g.9764631C>G | CA394709081 | GRIN2A | c.2913G>C (p.Gln971His) c.2442G>C (p.Gln814His) n.2506G>C c.*283G>C (n.*283G>C) c.2502G>C (p.Gln834His) n.2552G>C c.2754G>C (p.Gln918His) c.2655G>C (p.Gln885His) c.3069G>C (p.Gln1023His) | dbSNP |
16 | g.9764631C>T | CA493693113 | GRIN2A | c.2913G>A (p.Gln971=) c.2442G>A (p.Gln814=) n.2506G>A c.*283G>A (n.*283G>A) c.2502G>A (p.Gln834=) n.2552G>A c.2754G>A (p.Gln918=) c.2655G>A (p.Gln885=) c.3069G>A (p.Gln1023=) | dbSNP |
16 | g.9764632T>A | CA394709082 | GRIN2A | c.2912A>T (p.Gln971Leu) c.2441A>T (p.Gln814Leu) n.2505A>T c.*282A>T (n.*282A>T) c.2501A>T (p.Gln834Leu) n.2551A>T c.2753A>T (p.Gln918Leu) c.2654A>T (p.Gln885Leu) c.3068A>T (p.Gln1023Leu) | |
16 | g.9764632T>C | CA394709083 | GRIN2A | c.2912A>G (p.Gln971Arg) c.2441A>G (p.Gln814Arg) n.2505A>G c.*282A>G (n.*282A>G) c.2501A>G (p.Gln834Arg) n.2551A>G c.2753A>G (p.Gln918Arg) c.2654A>G (p.Gln885Arg) c.3068A>G (p.Gln1023Arg) | dbSNP COSMIC |
16 | g.9764632T>G | CA394709084 | GRIN2A | c.2912A>C (p.Gln971Pro) c.2441A>C (p.Gln814Pro) n.2505A>C c.*282A>C (n.*282A>C) c.2501A>C (p.Gln834Pro) n.2551A>C c.2753A>C (p.Gln918Pro) c.2654A>C (p.Gln885Pro) c.3068A>C (p.Gln1023Pro) | |
16 | g.9764633G>A | CA394709085 | GRIN2A | c.2911C>T (p.Gln971Ter) c.2440C>T (p.Gln814Ter) n.2504C>T c.*281C>T (n.*281C>T) c.2500C>T (p.Gln834Ter) n.2550C>T c.2752C>T (p.Gln918Ter) c.2653C>T (p.Gln885Ter) c.3067C>T (p.Gln1023Ter) | dbSNP |
16 | g.9764633G>C | CA394709086 | GRIN2A | c.2911C>G (p.Gln971Glu) c.2440C>G (p.Gln814Glu) n.2504C>G c.*281C>G (n.*281C>G) c.2500C>G (p.Gln834Glu) n.2550C>G c.2752C>G (p.Gln918Glu) c.2653C>G (p.Gln885Glu) c.3067C>G (p.Gln1023Glu) | dbSNP |
16 | g.9764633G= | CA2206693334 | GRIN2A | c.2911C= (p.Gln971=) c.2440C= (p.Gln814=) n.2504C= c.*281C= (n.*281C=) c.2500C= (p.Gln834=) n.2550C= c.2752C= (p.Gln918=) c.2653C= (p.Gln885=) c.3067C= (p.Gln1023=) | |
16 | g.9764633G>T | CA394709087 | GRIN2A | c.2911C>A (p.Gln971Lys) c.2440C>A (p.Gln814Lys) n.2504C>A c.*281C>A (n.*281C>A) c.2500C>A (p.Gln834Lys) n.2550C>A c.2752C>A (p.Gln918Lys) c.2653C>A (p.Gln885Lys) c.3067C>A (p.Gln1023Lys) | |
16 | g.9764634C>A | CA493693119 | GRIN2A | c.2910G>T (p.Arg970=) c.2439G>T (p.Arg813=) n.2503G>T c.*280G>T (n.*280G>T) c.2499G>T (p.Arg833=) n.2549G>T c.2751G>T (p.Arg917=) c.2652G>T (p.Arg884=) c.3066G>T (p.Arg1022=) | dbSNP |
16 | g.9764634C= | CA2206693335 | GRIN2A | c.2910G= (p.Arg970=) c.2439G= (p.Arg813=) n.2503G= c.*280G= (n.*280G=) c.2499G= (p.Arg833=) n.2549G= c.2751G= (p.Arg917=) c.2652G= (p.Arg884=) c.3066G= (p.Arg1022=) | |
16 | g.9764634C>G | CA493693120 | GRIN2A | c.2910G>C (p.Arg970=) c.2439G>C (p.Arg813=) n.2503G>C c.*280G>C (n.*280G>C) c.2499G>C (p.Arg833=) n.2549G>C c.2751G>C (p.Arg917=) c.2652G>C (p.Arg884=) c.3066G>C (p.Arg1022=) | dbSNP |
16 | g.9764634C>T | CA493693121 | GRIN2A | c.2910G>A (p.Arg970=) c.2439G>A (p.Arg813=) n.2503G>A c.*280G>A (n.*280G>A) c.2499G>A (p.Arg833=) n.2549G>A c.2751G>A (p.Arg917=) c.2652G>A (p.Arg884=) c.3066G>A (p.Arg1022=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764635C>A | CA394709088 | GRIN2A | c.2909G>T (p.Arg970Leu) c.2438G>T (p.Arg813Leu) n.2502G>T c.*279G>T (n.*279G>T) c.2498G>T (p.Arg833Leu) n.2548G>T c.2750G>T (p.Arg917Leu) c.2651G>T (p.Arg884Leu) c.3065G>T (p.Arg1022Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764635C= | CA2206693336 | GRIN2A | c.2909G= (p.Arg970=) c.2438G= (p.Arg813=) n.2502G= c.*279G= (n.*279G=) c.2498G= (p.Arg833=) n.2548G= c.2750G= (p.Arg917=) c.2651G= (p.Arg884=) c.3065G= (p.Arg1022=) | |
16 | g.9764635C>G | CA394709089 | GRIN2A | c.2909G>C (p.Arg970Pro) c.2438G>C (p.Arg813Pro) n.2502G>C c.*279G>C (n.*279G>C) c.2498G>C (p.Arg833Pro) n.2548G>C c.2750G>C (p.Arg917Pro) c.2651G>C (p.Arg884Pro) c.3065G>C (p.Arg1022Pro) | dbSNP |
16 | g.9764635C>T | CA7896404 | GRIN2A | c.2909G>A (p.Arg970Gln) c.2438G>A (p.Arg813Gln) n.2502G>A c.*279G>A (n.*279G>A) c.2498G>A (p.Arg833Gln) n.2548G>A c.2750G>A (p.Arg917Gln) c.2651G>A (p.Arg884Gln) c.3065G>A (p.Arg1022Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764636G>A | CA7896405 | GRIN2A | c.2908C>T (p.Arg970Trp) c.2437C>T (p.Arg813Trp) n.2501C>T c.*278C>T (n.*278C>T) c.2497C>T (p.Arg833Trp) n.2547C>T c.2749C>T (p.Arg917Trp) c.2650C>T (p.Arg884Trp) c.3064C>T (p.Arg1022Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764636G>C | CA394709090 | GRIN2A | c.2908C>G (p.Arg970Gly) c.2437C>G (p.Arg813Gly) n.2501C>G c.*278C>G (n.*278C>G) c.2497C>G (p.Arg833Gly) n.2547C>G c.2749C>G (p.Arg917Gly) c.2650C>G (p.Arg884Gly) c.3064C>G (p.Arg1022Gly) | ClinVar dbSNP |
16 | g.9764636G= | CA2206693337 | GRIN2A | c.2908C= (p.Arg970=) c.2437C= (p.Arg813=) n.2501C= c.*278C= (n.*278C=) c.2497C= (p.Arg833=) n.2547C= c.2749C= (p.Arg917=) c.2650C= (p.Arg884=) c.3064C= (p.Arg1022=) | |
16 | g.9764636G>T | CA493693125 | GRIN2A | c.2908C>A (p.Arg970=) c.2437C>A (p.Arg813=) n.2501C>A c.*278C>A (n.*278C>A) c.2497C>A (p.Arg833=) n.2547C>A c.2749C>A (p.Arg917=) c.2650C>A (p.Arg884=) c.3064C>A (p.Arg1022=) | dbSNP |
16 | g.9764637G>A | CA493693127 | GRIN2A | c.2907C>T (p.Asn969=) c.2436C>T (p.Asn812=) n.2500C>T c.*277C>T (n.*277C>T) c.2496C>T (p.Asn832=) n.2546C>T c.2748C>T (p.Asn916=) c.2649C>T (p.Asn883=) c.3063C>T (p.Asn1021=) | dbSNP gnomAD v4 |
16 | g.9764637G>C | CA314962 | GRIN2A | c.2907C>G (p.Asn969Lys) c.2436C>G (p.Asn812Lys) n.2500C>G c.*277C>G (n.*277C>G) c.2496C>G (p.Asn832Lys) n.2546C>G c.2748C>G (p.Asn916Lys) c.2649C>G (p.Asn883Lys) c.3063C>G (p.Asn1021Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764637G= | CA2206693338 | GRIN2A | c.2907C= (p.Asn969=) c.2436C= (p.Asn812=) n.2500C= c.*277C= (n.*277C=) c.2496C= (p.Asn832=) n.2546C= c.2748C= (p.Asn916=) c.2649C= (p.Asn883=) c.3063C= (p.Asn1021=) | |
16 | g.9764637G>T | CA394709091 | GRIN2A | c.2907C>A (p.Asn969Lys) c.2436C>A (p.Asn812Lys) n.2500C>A c.*277C>A (n.*277C>A) c.2496C>A (p.Asn832Lys) n.2546C>A c.2748C>A (p.Asn916Lys) c.2649C>A (p.Asn883Lys) c.3063C>A (p.Asn1021Lys) | |
16 | g.9764638T>A | CA394709092 | GRIN2A | c.2906A>T (p.Asn969Ile) c.2435A>T (p.Asn812Ile) n.2499A>T c.*276A>T (n.*276A>T) c.2495A>T (p.Asn832Ile) n.2545A>T c.2747A>T (p.Asn916Ile) c.2648A>T (p.Asn883Ile) c.3062A>T (p.Asn1021Ile) | dbSNP |
16 | g.9764638T>C | CA394709093 | GRIN2A | c.2906A>G (p.Asn969Ser) c.2435A>G (p.Asn812Ser) n.2499A>G c.*276A>G (n.*276A>G) c.2495A>G (p.Asn832Ser) n.2545A>G c.2747A>G (p.Asn916Ser) c.2648A>G (p.Asn883Ser) c.3062A>G (p.Asn1021Ser) | |
16 | g.9764638T>G | CA394709094 | GRIN2A | c.2906A>C (p.Asn969Thr) c.2435A>C (p.Asn812Thr) n.2499A>C c.*276A>C (n.*276A>C) c.2495A>C (p.Asn832Thr) n.2545A>C c.2747A>C (p.Asn916Thr) c.2648A>C (p.Asn883Thr) c.3062A>C (p.Asn1021Thr) | |
16 | g.9764639T>A | CA394709097 | GRIN2A | c.2905A>T (p.Asn969Tyr) c.2434A>T (p.Asn812Tyr) n.2498A>T c.*275A>T (n.*275A>T) c.2494A>T (p.Asn832Tyr) n.2544A>T c.2746A>T (p.Asn916Tyr) c.2647A>T (p.Asn883Tyr) c.3061A>T (p.Asn1021Tyr) | |
16 | g.9764639T>C | CA394709096 | GRIN2A | c.2905A>G (p.Asn969Asp) c.2434A>G (p.Asn812Asp) n.2498A>G c.*275A>G (n.*275A>G) c.2494A>G (p.Asn832Asp) n.2544A>G c.2746A>G (p.Asn916Asp) c.2647A>G (p.Asn883Asp) c.3061A>G (p.Asn1021Asp) | |
16 | g.9764639T>G | CA394709095 | GRIN2A | c.2905A>C (p.Asn969His) c.2434A>C (p.Asn812His) n.2498A>C c.*275A>C (n.*275A>C) c.2494A>C (p.Asn832His) n.2544A>C c.2746A>C (p.Asn916His) c.2647A>C (p.Asn883His) c.3061A>C (p.Asn1021His) | |
16 | g.9764640G>A | CA493693133 | GRIN2A | c.2904C>T (p.Ala968=) c.2433C>T (p.Ala811=) n.2497C>T c.*274C>T (n.*274C>T) c.2493C>T (p.Ala831=) n.2543C>T c.2745C>T (p.Ala915=) c.2646C>T (p.Ala882=) c.3060C>T (p.Ala1020=) | dbSNP |
16 | g.9764640G>C | CA493693134 | GRIN2A | c.2904C>G (p.Ala968=) c.2433C>G (p.Ala811=) n.2497C>G c.*274C>G (n.*274C>G) c.2493C>G (p.Ala831=) n.2543C>G c.2745C>G (p.Ala915=) c.2646C>G (p.Ala882=) c.3060C>G (p.Ala1020=) | dbSNP |
16 | g.9764640G>T | CA493693135 | GRIN2A | c.2904C>A (p.Ala968=) c.2433C>A (p.Ala811=) n.2497C>A c.*274C>A (n.*274C>A) c.2493C>A (p.Ala831=) n.2543C>A c.2745C>A (p.Ala915=) c.2646C>A (p.Ala882=) c.3060C>A (p.Ala1020=) | dbSNP |
16 | g.9764641G>A | CA394709098 | GRIN2A | c.2903C>T (p.Ala968Val) c.2432C>T (p.Ala811Val) n.2496C>T c.*273C>T (n.*273C>T) c.2492C>T (p.Ala831Val) n.2542C>T c.2744C>T (p.Ala915Val) c.2645C>T (p.Ala882Val) c.3059C>T (p.Ala1020Val) | dbSNP |
16 | g.9764641G>C | CA394709099 | GRIN2A | c.2903C>G (p.Ala968Gly) c.2432C>G (p.Ala811Gly) n.2496C>G c.*273C>G (n.*273C>G) c.2492C>G (p.Ala831Gly) n.2542C>G c.2744C>G (p.Ala915Gly) c.2645C>G (p.Ala882Gly) c.3059C>G (p.Ala1020Gly) | dbSNP |
16 | g.9764641G>T | CA394709100 | GRIN2A | c.2903C>A (p.Ala968Asp) c.2432C>A (p.Ala811Asp) n.2496C>A c.*273C>A (n.*273C>A) c.2492C>A (p.Ala831Asp) n.2542C>A c.2744C>A (p.Ala915Asp) c.2645C>A (p.Ala882Asp) c.3059C>A (p.Ala1020Asp) | |
16 | g.9764642C>A | CA394709101 | GRIN2A | c.2902G>T (p.Ala968Ser) c.2431G>T (p.Ala811Ser) n.2495G>T c.*272G>T (n.*272G>T) c.2491G>T (p.Ala831Ser) n.2541G>T c.2743G>T (p.Ala915Ser) c.2644G>T (p.Ala882Ser) c.3058G>T (p.Ala1020Ser) | dbSNP |
16 | g.9764642C>G | CA394709102 | GRIN2A | c.2902G>C (p.Ala968Pro) c.2431G>C (p.Ala811Pro) n.2495G>C c.*272G>C (n.*272G>C) c.2491G>C (p.Ala831Pro) n.2541G>C c.2743G>C (p.Ala915Pro) c.2644G>C (p.Ala882Pro) c.3058G>C (p.Ala1020Pro) | dbSNP COSMIC |
16 | g.9764642C>T | CA394709103 | GRIN2A | c.2902G>A (p.Ala968Thr) c.2431G>A (p.Ala811Thr) n.2495G>A c.*272G>A (n.*272G>A) c.2491G>A (p.Ala831Thr) n.2541G>A c.2743G>A (p.Ala915Thr) c.2644G>A (p.Ala882Thr) c.3058G>A (p.Ala1020Thr) | dbSNP gnomAD v4 |
16 | g.9764643C>A | CA493693140 | GRIN2A | c.2901G>T (p.Val967=) c.2430G>T (p.Val810=) n.2494G>T c.*271G>T (n.*271G>T) c.2490G>T (p.Val830=) n.2540G>T c.2742G>T (p.Val914=) c.2643G>T (p.Val881=) c.3057G>T (p.Val1019=) | |
16 | g.9764643C>G | CA493693142 | GRIN2A | c.2901G>C (p.Val967=) c.2430G>C (p.Val810=) n.2494G>C c.*271G>C (n.*271G>C) c.2490G>C (p.Val830=) n.2540G>C c.2742G>C (p.Val914=) c.2643G>C (p.Val881=) c.3057G>C (p.Val1019=) | |
16 | g.9764643C>T | CA493693143 | GRIN2A | c.2901G>A (p.Val967=) c.2430G>A (p.Val810=) n.2494G>A c.*271G>A (n.*271G>A) c.2490G>A (p.Val830=) n.2540G>A c.2742G>A (p.Val914=) c.2643G>A (p.Val881=) c.3057G>A (p.Val1019=) | dbSNP COSMIC |
16 | g.9764644A>C | CA394709106 | GRIN2A | c.2900T>G (p.Val967Gly) c.2429T>G (p.Val810Gly) n.2493T>G c.*270T>G (n.*270T>G) c.2489T>G (p.Val830Gly) n.2539T>G c.2741T>G (p.Val914Gly) c.2642T>G (p.Val881Gly) c.3056T>G (p.Val1019Gly) | dbSNP |
16 | g.9764644A>G | CA394709104 | GRIN2A | c.2900T>C (p.Val967Ala) c.2429T>C (p.Val810Ala) n.2493T>C c.*270T>C (n.*270T>C) c.2489T>C (p.Val830Ala) n.2539T>C c.2741T>C (p.Val914Ala) c.2642T>C (p.Val881Ala) c.3056T>C (p.Val1019Ala) | |
16 | g.9764644A>T | CA394709105 | GRIN2A | c.2900T>A (p.Val967Glu) c.2429T>A (p.Val810Glu) n.2493T>A c.*270T>A (n.*270T>A) c.2489T>A (p.Val830Glu) n.2539T>A c.2741T>A (p.Val914Glu) c.2642T>A (p.Val881Glu) c.3056T>A (p.Val1019Glu) | dbSNP |
16 | g.9764645C>A | CA394709107 | GRIN2A | c.2899G>T (p.Val967Leu) c.2428G>T (p.Val810Leu) n.2492G>T c.*269G>T (n.*269G>T) c.2488G>T (p.Val830Leu) n.2538G>T c.2740G>T (p.Val914Leu) c.2641G>T (p.Val881Leu) c.3055G>T (p.Val1019Leu) | |
16 | g.9764645C= | CA2206693339 | GRIN2A | c.2899G= (p.Val967=) c.2428G= (p.Val810=) n.2492G= c.*269G= (n.*269G=) c.2488G= (p.Val830=) n.2538G= c.2740G= (p.Val914=) c.2641G= (p.Val881=) c.3055G= (p.Val1019=) | |
16 | g.9764645C>G | CA288898 | GRIN2A | c.2899G>C (p.Val967Leu) c.2428G>C (p.Val810Leu) n.2492G>C c.*269G>C (n.*269G>C) c.2488G>C (p.Val830Leu) n.2538G>C c.2740G>C (p.Val914Leu) c.2641G>C (p.Val881Leu) c.3055G>C (p.Val1019Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764645C>T | CA394709108 | GRIN2A | c.2899G>A (p.Val967Met) c.2428G>A (p.Val810Met) n.2492G>A c.*269G>A (n.*269G>A) c.2488G>A (p.Val830Met) n.2538G>A c.2740G>A (p.Val914Met) c.2641G>A (p.Val881Met) c.3055G>A (p.Val1019Met) | dbSNP |
16 | g.9764646A= | CA2206693340 | GRIN2A | c.2898T= (p.Phe966=) c.2427T= (p.Phe809=) n.2491T= c.*268T= (n.*268T=) c.2487T= (p.Phe829=) n.2537T= c.2739T= (p.Phe913=) c.2640T= (p.Phe880=) c.3054T= (p.Phe1018=) | |
16 | g.9764646A>C | CA394709109 | GRIN2A | c.2898T>G (p.Phe966Leu) c.2427T>G (p.Phe809Leu) n.2491T>G c.*268T>G (n.*268T>G) c.2487T>G (p.Phe829Leu) n.2537T>G c.2739T>G (p.Phe913Leu) c.2640T>G (p.Phe880Leu) c.3054T>G (p.Phe1018Leu) | dbSNP gnomAD v4 |
16 | g.9764646A>G | CA493693148 | GRIN2A | c.2898T>C (p.Phe966=) c.2427T>C (p.Phe809=) n.2491T>C c.*268T>C (n.*268T>C) c.2487T>C (p.Phe829=) n.2537T>C c.2739T>C (p.Phe913=) c.2640T>C (p.Phe880=) c.3054T>C (p.Phe1018=) | |
16 | g.9764646A>T | CA394709110 | GRIN2A | c.2898T>A (p.Phe966Leu) c.2427T>A (p.Phe809Leu) n.2491T>A c.*268T>A (n.*268T>A) c.2487T>A (p.Phe829Leu) n.2537T>A c.2739T>A (p.Phe913Leu) c.2640T>A (p.Phe880Leu) c.3054T>A (p.Phe1018Leu) | dbSNP |
16 | g.9764647A>C | CA394709111 | GRIN2A | c.2897T>G (p.Phe966Cys) c.2426T>G (p.Phe809Cys) n.2490T>G c.*267T>G (n.*267T>G) c.2486T>G (p.Phe829Cys) n.2536T>G c.2738T>G (p.Phe913Cys) c.2639T>G (p.Phe880Cys) c.3053T>G (p.Phe1018Cys) | |
16 | g.9764647A>G | CA394709112 | GRIN2A | c.2897T>C (p.Phe966Ser) c.2426T>C (p.Phe809Ser) n.2490T>C c.*267T>C (n.*267T>C) c.2486T>C (p.Phe829Ser) n.2536T>C c.2738T>C (p.Phe913Ser) c.2639T>C (p.Phe880Ser) c.3053T>C (p.Phe1018Ser) | dbSNP |
16 | g.9764647A>T | CA394709113 | GRIN2A | c.2897T>A (p.Phe966Tyr) c.2426T>A (p.Phe809Tyr) n.2490T>A c.*267T>A (n.*267T>A) c.2486T>A (p.Phe829Tyr) n.2536T>A c.2738T>A (p.Phe913Tyr) c.2639T>A (p.Phe880Tyr) c.3053T>A (p.Phe1018Tyr) | |
16 | g.9764648A>C | CA394709114 | GRIN2A | c.2896T>G (p.Phe966Val) c.2425T>G (p.Phe809Val) n.2489T>G c.*266T>G (n.*266T>G) c.2485T>G (p.Phe829Val) n.2535T>G c.2737T>G (p.Phe913Val) c.2638T>G (p.Phe880Val) c.3052T>G (p.Phe1018Val) | |
16 | g.9764648A>G | CA394709115 | GRIN2A | c.2896T>C (p.Phe966Leu) c.2425T>C (p.Phe809Leu) n.2489T>C c.*266T>C (n.*266T>C) c.2485T>C (p.Phe829Leu) n.2535T>C c.2737T>C (p.Phe913Leu) c.2638T>C (p.Phe880Leu) c.3052T>C (p.Phe1018Leu) | dbSNP |
16 | g.9764648A>T | CA394709116 | GRIN2A | c.2896T>A (p.Phe966Ile) c.2425T>A (p.Phe809Ile) n.2489T>A c.*266T>A (n.*266T>A) c.2485T>A (p.Phe829Ile) n.2535T>A c.2737T>A (p.Phe913Ile) c.2638T>A (p.Phe880Ile) c.3052T>A (p.Phe1018Ile) | dbSNP |
16 | g.9764649T>A | CA493693153 | GRIN2A | c.2895A>T (p.Thr965=) c.2424A>T (p.Thr808=) n.2488A>T c.*265A>T (n.*265A>T) c.2484A>T (p.Thr828=) n.2534A>T c.2736A>T (p.Thr912=) c.2637A>T (p.Thr879=) c.3051A>T (p.Thr1017=) | dbSNP |
16 | g.9764649T>C | CA493693152 | GRIN2A | c.2895A>G (p.Thr965=) c.2424A>G (p.Thr808=) n.2488A>G c.*265A>G (n.*265A>G) c.2484A>G (p.Thr828=) n.2534A>G c.2736A>G (p.Thr912=) c.2637A>G (p.Thr879=) c.3051A>G (p.Thr1017=) | dbSNP |
16 | g.9764649T>G | CA7896406 | GRIN2A | c.2895A>C (p.Thr965=) c.2424A>C (p.Thr808=) n.2488A>C c.*265A>C (n.*265A>C) c.2484A>C (p.Thr828=) n.2534A>C c.2736A>C (p.Thr912=) c.2637A>C (p.Thr879=) c.3051A>C (p.Thr1017=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764649T= | CA2206693341 | GRIN2A | c.2895A= (p.Thr965=) c.2424A= (p.Thr808=) n.2488A= c.*265A= (n.*265A=) c.2484A= (p.Thr828=) n.2534A= c.2736A= (p.Thr912=) c.2637A= (p.Thr879=) c.3051A= (p.Thr1017=) | |
16 | g.9764650G>A | CA10604082 | GRIN2A | c.2894C>T (p.Thr965Ile) c.2423C>T (p.Thr808Ile) n.2487C>T c.*264C>T (n.*264C>T) c.2483C>T (p.Thr828Ile) n.2533C>T c.2735C>T (p.Thr912Ile) c.2636C>T (p.Thr879Ile) c.3050C>T (p.Thr1017Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764650G>C | CA394709118 | GRIN2A | c.2894C>G (p.Thr965Arg) c.2423C>G (p.Thr808Arg) n.2487C>G c.*264C>G (n.*264C>G) c.2483C>G (p.Thr828Arg) n.2533C>G c.2735C>G (p.Thr912Arg) c.2636C>G (p.Thr879Arg) c.3050C>G (p.Thr1017Arg) | |
16 | g.9764650G= | CA2206693342 | GRIN2A | c.2894C= (p.Thr965=) c.2423C= (p.Thr808=) n.2487C= c.*264C= (n.*264C=) c.2483C= (p.Thr828=) n.2533C= c.2735C= (p.Thr912=) c.2636C= (p.Thr879=) c.3050C= (p.Thr1017=) | |
16 | g.9764650G>T | CA394709117 | GRIN2A | c.2894C>A (p.Thr965Lys) c.2423C>A (p.Thr808Lys) n.2487C>A c.*264C>A (n.*264C>A) c.2483C>A (p.Thr828Lys) n.2533C>A c.2735C>A (p.Thr912Lys) c.2636C>A (p.Thr879Lys) c.3050C>A (p.Thr1017Lys) | |
16 | g.9764651T>A | CA394709119 | GRIN2A | c.2893A>T (p.Thr965Ser) c.2422A>T (p.Thr808Ser) n.2486A>T c.*263A>T (n.*263A>T) c.2482A>T (p.Thr828Ser) n.2532A>T c.2734A>T (p.Thr912Ser) c.2635A>T (p.Thr879Ser) c.3049A>T (p.Thr1017Ser) | |
16 | g.9764651T>C | CA394709120 | GRIN2A | c.2893A>G (p.Thr965Ala) c.2422A>G (p.Thr808Ala) n.2486A>G c.*263A>G (n.*263A>G) c.2482A>G (p.Thr828Ala) n.2532A>G c.2734A>G (p.Thr912Ala) c.2635A>G (p.Thr879Ala) c.3049A>G (p.Thr1017Ala) | |
16 | g.9764651T>G | CA394709121 | GRIN2A | c.2893A>C (p.Thr965Pro) c.2422A>C (p.Thr808Pro) n.2486A>C c.*263A>C (n.*263A>C) c.2482A>C (p.Thr828Pro) n.2532A>C c.2734A>C (p.Thr912Pro) c.2635A>C (p.Thr879Pro) c.3049A>C (p.Thr1017Pro) | |
16 | g.9764652T>A | CA394709122 | GRIN2A | c.2892A>T (p.Gln964His) c.2421A>T (p.Gln807His) n.2485A>T c.*262A>T (n.*262A>T) c.2481A>T (p.Gln827His) n.2531A>T c.2733A>T (p.Gln911His) c.2634A>T (p.Gln878His) c.3048A>T (p.Gln1016His) | dbSNP |
16 | g.9764652T>C | CA493693158 | GRIN2A | c.2892A>G (p.Gln964=) c.2421A>G (p.Gln807=) n.2485A>G c.*262A>G (n.*262A>G) c.2481A>G (p.Gln827=) n.2531A>G c.2733A>G (p.Gln911=) c.2634A>G (p.Gln878=) c.3048A>G (p.Gln1016=) | |
16 | g.9764652T>G | CA394709123 | GRIN2A | c.2892A>C (p.Gln964His) c.2421A>C (p.Gln807His) n.2485A>C c.*262A>C (n.*262A>C) c.2481A>C (p.Gln827His) n.2531A>C c.2733A>C (p.Gln911His) c.2634A>C (p.Gln878His) c.3048A>C (p.Gln1016His) | |
16 | g.9764653T>A | CA394709124 | GRIN2A | c.2891A>T (p.Gln964Leu) c.2420A>T (p.Gln807Leu) n.2484A>T c.*261A>T (n.*261A>T) c.2480A>T (p.Gln827Leu) n.2530A>T c.2732A>T (p.Gln911Leu) c.2633A>T (p.Gln878Leu) c.3047A>T (p.Gln1016Leu) | |
16 | g.9764653T>C | CA394709125 | GRIN2A | c.2891A>G (p.Gln964Arg) c.2420A>G (p.Gln807Arg) n.2484A>G c.*261A>G (n.*261A>G) c.2480A>G (p.Gln827Arg) n.2530A>G c.2732A>G (p.Gln911Arg) c.2633A>G (p.Gln878Arg) c.3047A>G (p.Gln1016Arg) | |
16 | g.9764653T>G | CA394709126 | GRIN2A | c.2891A>C (p.Gln964Pro) c.2420A>C (p.Gln807Pro) n.2484A>C c.*261A>C (n.*261A>C) c.2480A>C (p.Gln827Pro) n.2530A>C c.2732A>C (p.Gln911Pro) c.2633A>C (p.Gln878Pro) c.3047A>C (p.Gln1016Pro) | |
16 | g.9764653_9764654delinsTG | CA2206693343 | GRIN2A | c.2890_2891delinsCA (p.Gln964=) c.2419_2420delinsCA (p.Gln807=) n.2483_2484delinsCA c.*260_*261delinsCA (n.*260_*261delinsCA) c.2479_2480delinsCA (p.Gln827=) n.2529_2530delinsCA c.2731_2732delinsCA (p.Gln911=) c.2632_2633delinsCA (p.Gln878=) c.3046_3047delinsCA (p.Gln1016=) | |
16 | g.9764654G>A | CA394709127 | GRIN2A | c.2890C>T (p.Gln964Ter) c.2419C>T (p.Gln807Ter) n.2483C>T c.*260C>T (n.*260C>T) c.2479C>T (p.Gln827Ter) n.2529C>T c.2731C>T (p.Gln911Ter) c.2632C>T (p.Gln878Ter) c.3046C>T (p.Gln1016Ter) | dbSNP |
16 | g.9764654G>C | CA7896407 | GRIN2A | c.2890C>G (p.Gln964Glu) c.2419C>G (p.Gln807Glu) n.2483C>G c.*260C>G (n.*260C>G) c.2479C>G (p.Gln827Glu) n.2529C>G c.2731C>G (p.Gln911Glu) c.2632C>G (p.Gln878Glu) c.3046C>G (p.Gln1016Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764654G= | CA2206693344 | GRIN2A | c.2890C= (p.Gln964=) c.2419C= (p.Gln807=) n.2483C= c.*260C= (n.*260C=) c.2479C= (p.Gln827=) n.2529C= c.2731C= (p.Gln911=) c.2632C= (p.Gln878=) c.3046C= (p.Gln1016=) | |
16 | g.9764654G>T | CA7896408 | GRIN2A | c.2890C>A (p.Gln964Lys) c.2419C>A (p.Gln807Lys) n.2483C>A c.*260C>A (n.*260C>A) c.2479C>A (p.Gln827Lys) n.2529C>A c.2731C>A (p.Gln911Lys) c.2632C>A (p.Gln878Lys) c.3046C>A (p.Gln1016Lys) | dbSNP ExAC gnomAD v2 |
16 | g.9764655del | CA10603888 | GRIN2A | c.2890del (p.Gln964LysfsTer?) c.2419del (p.Gln807LysfsTer?) n.2483del c.*260del (n.*260del) c.2479del (p.Gln827LysfsTer?) n.2529del c.2731del (p.Gln911LysfsTer?) c.2632del (p.Gln878LysfsTer?) c.3046del (p.Gln1016LysfsTer?) | ClinVar dbSNP |
16 | g.9764655G>A | CA493693166 | GRIN2A | c.2889C>T (p.Leu963=) c.2418C>T (p.Leu806=) n.2482C>T c.*259C>T (n.*259C>T) c.2478C>T (p.Leu826=) n.2528C>T c.2730C>T (p.Leu910=) c.2631C>T (p.Leu877=) c.3045C>T (p.Leu1015=) | |
16 | g.9764655G>C | CA7896409 | GRIN2A | c.2889C>G (p.Leu963=) c.2418C>G (p.Leu806=) n.2482C>G c.*259C>G (n.*259C>G) c.2478C>G (p.Leu826=) n.2528C>G c.2730C>G (p.Leu910=) c.2631C>G (p.Leu877=) c.3045C>G (p.Leu1015=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764655G= | CA2206693345 | GRIN2A | c.2889C= (p.Leu963=) c.2418C= (p.Leu806=) n.2482C= c.*259C= (n.*259C=) c.2478C= (p.Leu826=) n.2528C= c.2730C= (p.Leu910=) c.2631C= (p.Leu877=) c.3045C= (p.Leu1015=) | |
16 | g.9764655G>T | CA493693167 | GRIN2A | c.2889C>A (p.Leu963=) c.2418C>A (p.Leu806=) n.2482C>A c.*259C>A (n.*259C>A) c.2478C>A (p.Leu826=) n.2528C>A c.2730C>A (p.Leu910=) c.2631C>A (p.Leu877=) c.3045C>A (p.Leu1015=) | |
16 | g.9764656A>C | CA394709130 | GRIN2A | c.2888T>G (p.Leu963Arg) c.2417T>G (p.Leu806Arg) n.2481T>G c.*258T>G (n.*258T>G) c.2477T>G (p.Leu826Arg) n.2527T>G c.2729T>G (p.Leu910Arg) c.2630T>G (p.Leu877Arg) c.3044T>G (p.Leu1015Arg) | |
16 | g.9764656A>G | CA394709129 | GRIN2A | c.2888T>C (p.Leu963Pro) c.2417T>C (p.Leu806Pro) n.2481T>C c.*258T>C (n.*258T>C) c.2477T>C (p.Leu826Pro) n.2527T>C c.2729T>C (p.Leu910Pro) c.2630T>C (p.Leu877Pro) c.3044T>C (p.Leu1015Pro) | |
16 | g.9764656A>T | CA394709128 | GRIN2A | c.2888T>A (p.Leu963His) c.2417T>A (p.Leu806His) n.2481T>A c.*258T>A (n.*258T>A) c.2477T>A (p.Leu826His) n.2527T>A c.2729T>A (p.Leu910His) c.2630T>A (p.Leu877His) c.3044T>A (p.Leu1015His) | dbSNP |
16 | g.9764657G>A | CA394709131 | GRIN2A | c.2887C>T (p.Leu963Phe) c.2416C>T (p.Leu806Phe) n.2480C>T c.*257C>T (n.*257C>T) c.2476C>T (p.Leu826Phe) n.2526C>T c.2728C>T (p.Leu910Phe) c.2629C>T (p.Leu877Phe) c.3043C>T (p.Leu1015Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764657G>C | CA394709133 | GRIN2A | c.2887C>G (p.Leu963Val) c.2416C>G (p.Leu806Val) n.2480C>G c.*257C>G (n.*257C>G) c.2476C>G (p.Leu826Val) n.2526C>G c.2728C>G (p.Leu910Val) c.2629C>G (p.Leu877Val) c.3043C>G (p.Leu1015Val) | dbSNP |
16 | g.9764657G= | CA2206693346 | GRIN2A | c.2887C= (p.Leu963=) c.2416C= (p.Leu806=) n.2480C= c.*257C= (n.*257C=) c.2476C= (p.Leu826=) n.2526C= c.2728C= (p.Leu910=) c.2629C= (p.Leu877=) c.3043C= (p.Leu1015=) | |
16 | g.9764657G>T | CA394709132 | GRIN2A | c.2887C>A (p.Leu963Ile) c.2416C>A (p.Leu806Ile) n.2480C>A c.*257C>A (n.*257C>A) c.2476C>A (p.Leu826Ile) n.2526C>A c.2728C>A (p.Leu910Ile) c.2629C>A (p.Leu877Ile) c.3043C>A (p.Leu1015Ile) | |
16 | g.9764658T>A | CA394709134 | GRIN2A | c.2886A>T (p.Glu962Asp) c.2415A>T (p.Glu805Asp) n.2479A>T c.*256A>T (n.*256A>T) c.2475A>T (p.Glu825Asp) n.2525A>T c.2727A>T (p.Glu909Asp) c.2628A>T (p.Glu876Asp) c.3042A>T (p.Glu1014Asp) | dbSNP |
16 | g.9764658T>C | CA493693174 | GRIN2A | c.2886A>G (p.Glu962=) c.2415A>G (p.Glu805=) n.2479A>G c.*256A>G (n.*256A>G) c.2475A>G (p.Glu825=) n.2525A>G c.2727A>G (p.Glu909=) c.2628A>G (p.Glu876=) c.3042A>G (p.Glu1014=) | |
16 | g.9764658T>G | CA394709135 | GRIN2A | c.2886A>C (p.Glu962Asp) c.2415A>C (p.Glu805Asp) n.2479A>C c.*256A>C (n.*256A>C) c.2475A>C (p.Glu825Asp) n.2525A>C c.2727A>C (p.Glu909Asp) c.2628A>C (p.Glu876Asp) c.3042A>C (p.Glu1014Asp) | |
16 | g.9764659T>A | CA394709136 | GRIN2A | c.2885A>T (p.Glu962Val) c.2414A>T (p.Glu805Val) n.2478A>T c.*255A>T (n.*255A>T) c.2474A>T (p.Glu825Val) n.2524A>T c.2726A>T (p.Glu909Val) c.2627A>T (p.Glu876Val) c.3041A>T (p.Glu1014Val) | |
16 | g.9764659T>C | CA394709137 | GRIN2A | c.2885A>G (p.Glu962Gly) c.2414A>G (p.Glu805Gly) n.2478A>G c.*255A>G (n.*255A>G) c.2474A>G (p.Glu825Gly) n.2524A>G c.2726A>G (p.Glu909Gly) c.2627A>G (p.Glu876Gly) c.3041A>G (p.Glu1014Gly) | |
16 | g.9764659T>G | CA394709138 | GRIN2A | c.2885A>C (p.Glu962Ala) c.2414A>C (p.Glu805Ala) n.2478A>C c.*255A>C (n.*255A>C) c.2474A>C (p.Glu825Ala) n.2524A>C c.2726A>C (p.Glu909Ala) c.2627A>C (p.Glu876Ala) c.3041A>C (p.Glu1014Ala) | |
16 | g.9764660C>A | CA394709139 | GRIN2A | c.2884G>T (p.Glu962Ter) c.2413G>T (p.Glu805Ter) n.2477G>T c.*254G>T (n.*254G>T) c.2473G>T (p.Glu825Ter) n.2523G>T c.2725G>T (p.Glu909Ter) c.2626G>T (p.Glu876Ter) c.3040G>T (p.Glu1014Ter) | dbSNP |
16 | g.9764660C= | CA2206693347 | GRIN2A | c.2884G= (p.Glu962=) c.2413G= (p.Glu805=) n.2477G= c.*254G= (n.*254G=) c.2473G= (p.Glu825=) n.2523G= c.2725G= (p.Glu909=) c.2626G= (p.Glu876=) c.3040G= (p.Glu1014=) | |
16 | g.9764660C>G | CA277538390 | GRIN2A | c.2884G>C (p.Glu962Gln) c.2413G>C (p.Glu805Gln) n.2477G>C c.*254G>C (n.*254G>C) c.2473G>C (p.Glu825Gln) n.2523G>C c.2725G>C (p.Glu909Gln) c.2626G>C (p.Glu876Gln) c.3040G>C (p.Glu1014Gln) | ClinVar dbSNP gnomAD v4 |
16 | g.9764660C>T | CA277538406 | GRIN2A | c.2884G>A (p.Glu962Lys) c.2413G>A (p.Glu805Lys) n.2477G>A c.*254G>A (n.*254G>A) c.2473G>A (p.Glu825Lys) n.2523G>A c.2725G>A (p.Glu909Lys) c.2626G>A (p.Glu876Lys) c.3040G>A (p.Glu1014Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.9764661G>A | CA288896 | GRIN2A | c.2883C>T (p.Asn961=) c.2412C>T (p.Asn804=) n.2476C>T c.*253C>T (n.*253C>T) c.2472C>T (p.Asn824=) n.2522C>T c.2724C>T (p.Asn908=) c.2625C>T (p.Asn875=) c.3039C>T (p.Asn1013=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764661G>C | CA394709140 | GRIN2A | c.2883C>G (p.Asn961Lys) c.2412C>G (p.Asn804Lys) n.2476C>G c.*253C>G (n.*253C>G) c.2472C>G (p.Asn824Lys) n.2522C>G c.2724C>G (p.Asn908Lys) c.2625C>G (p.Asn875Lys) c.3039C>G (p.Asn1013Lys) | dbSNP |
16 | g.9764661G= | CA2206693348 | GRIN2A | c.2883C= (p.Asn961=) c.2412C= (p.Asn804=) n.2476C= c.*253C= (n.*253C=) c.2472C= (p.Asn824=) n.2522C= c.2724C= (p.Asn908=) c.2625C= (p.Asn875=) c.3039C= (p.Asn1013=) | |
16 | g.9764661G>T | CA394709141 | GRIN2A | c.2883C>A (p.Asn961Lys) c.2412C>A (p.Asn804Lys) n.2476C>A c.*253C>A (n.*253C>A) c.2472C>A (p.Asn824Lys) n.2522C>A c.2724C>A (p.Asn908Lys) c.2625C>A (p.Asn875Lys) c.3039C>A (p.Asn1013Lys) | COSMIC |