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.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 |
16 | g.9764662T>A | CA394709144 | GRIN2A | c.2882A>T (p.Asn961Ile) c.2411A>T (p.Asn804Ile) n.2475A>T c.*252A>T (n.*252A>T) c.2471A>T (p.Asn824Ile) n.2521A>T c.2723A>T (p.Asn908Ile) c.2624A>T (p.Asn875Ile) c.3038A>T (p.Asn1013Ile) | dbSNP |
16 | g.9764662T>C | CA394709143 | GRIN2A | c.2882A>G (p.Asn961Ser) c.2411A>G (p.Asn804Ser) n.2475A>G c.*252A>G (n.*252A>G) c.2471A>G (p.Asn824Ser) n.2521A>G c.2723A>G (p.Asn908Ser) c.2624A>G (p.Asn875Ser) c.3038A>G (p.Asn1013Ser) | dbSNP |
16 | g.9764662T>G | CA394709142 | GRIN2A | c.2882A>C (p.Asn961Thr) c.2411A>C (p.Asn804Thr) n.2475A>C c.*252A>C (n.*252A>C) c.2471A>C (p.Asn824Thr) n.2521A>C c.2723A>C (p.Asn908Thr) c.2624A>C (p.Asn875Thr) c.3038A>C (p.Asn1013Thr) | dbSNP |
16 | g.9764663T>A | CA394709145 | GRIN2A | c.2881A>T (p.Asn961Tyr) c.2410A>T (p.Asn804Tyr) n.2474A>T c.*251A>T (n.*251A>T) c.2470A>T (p.Asn824Tyr) n.2520A>T c.2722A>T (p.Asn908Tyr) c.2623A>T (p.Asn875Tyr) c.3037A>T (p.Asn1013Tyr) | |
16 | g.9764663T>C | CA394709146 | GRIN2A | c.2881A>G (p.Asn961Asp) c.2410A>G (p.Asn804Asp) n.2474A>G c.*251A>G (n.*251A>G) c.2470A>G (p.Asn824Asp) n.2520A>G c.2722A>G (p.Asn908Asp) c.2623A>G (p.Asn875Asp) c.3037A>G (p.Asn1013Asp) | gnomAD v4 |
16 | g.9764663T>G | CA394709147 | GRIN2A | c.2881A>C (p.Asn961His) c.2410A>C (p.Asn804His) n.2474A>C c.*251A>C (n.*251A>C) c.2470A>C (p.Asn824His) n.2520A>C c.2722A>C (p.Asn908His) c.2623A>C (p.Asn875His) c.3037A>C (p.Asn1013His) | |
16 | g.9764664C>A | CA394709148 | GRIN2A | c.2880G>T (p.Met960Ile) c.2409G>T (p.Met803Ile) n.2473G>T c.*250G>T (n.*250G>T) c.2469G>T (p.Met823Ile) n.2519G>T c.2721G>T (p.Met907Ile) c.2622G>T (p.Met874Ile) c.3036G>T (p.Met1012Ile) | |
16 | g.9764664C= | CA2206693349 | GRIN2A | c.2880G= (p.Met960=) c.2409G= (p.Met803=) n.2473G= c.*250G= (n.*250G=) c.2469G= (p.Met823=) n.2519G= c.2721G= (p.Met907=) c.2622G= (p.Met874=) c.3036G= (p.Met1012=) | |
16 | g.9764664C>G | CA394709149 | GRIN2A | c.2880G>C (p.Met960Ile) c.2409G>C (p.Met803Ile) n.2473G>C c.*250G>C (n.*250G>C) c.2469G>C (p.Met823Ile) n.2519G>C c.2721G>C (p.Met907Ile) c.2622G>C (p.Met874Ile) c.3036G>C (p.Met1012Ile) | |
16 | g.9764664C>T | CA277538419 | GRIN2A | c.2880G>A (p.Met960Ile) c.2409G>A (p.Met803Ile) n.2473G>A c.*250G>A (n.*250G>A) c.2469G>A (p.Met823Ile) n.2519G>A c.2721G>A (p.Met907Ile) c.2622G>A (p.Met874Ile) c.3036G>A (p.Met1012Ile) | dbSNP gnomAD v4 COSMIC |
16 | g.9764665A= | CA2206693350 | GRIN2A | c.2879T= (p.Met960=) c.2408T= (p.Met803=) n.2472T= c.*249T= (n.*249T=) c.2468T= (p.Met823=) n.2518T= c.2720T= (p.Met907=) c.2621T= (p.Met874=) c.3035T= (p.Met1012=) | |
16 | g.9764665A>C | CA394709150 | GRIN2A | c.2879T>G (p.Met960Arg) c.2408T>G (p.Met803Arg) n.2472T>G c.*249T>G (n.*249T>G) c.2468T>G (p.Met823Arg) n.2518T>G c.2720T>G (p.Met907Arg) c.2621T>G (p.Met874Arg) c.3035T>G (p.Met1012Arg) | |
16 | g.9764665A>G | CA394709151 | GRIN2A | c.2879T>C (p.Met960Thr) c.2408T>C (p.Met803Thr) n.2472T>C c.*249T>C (n.*249T>C) c.2468T>C (p.Met823Thr) n.2518T>C c.2720T>C (p.Met907Thr) c.2621T>C (p.Met874Thr) c.3035T>C (p.Met1012Thr) | gnomAD v4 |
16 | g.9764665A>T | CA394709152 | GRIN2A | c.2879T>A (p.Met960Lys) c.2408T>A (p.Met803Lys) n.2472T>A c.*249T>A (n.*249T>A) c.2468T>A (p.Met823Lys) n.2518T>A c.2720T>A (p.Met907Lys) c.2621T>A (p.Met874Lys) c.3035T>A (p.Met1012Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764666T>A | CA394709153 | GRIN2A | c.2878A>T (p.Met960Leu) c.2407A>T (p.Met803Leu) n.2471A>T c.*248A>T (n.*248A>T) c.2467A>T (p.Met823Leu) n.2517A>T c.2719A>T (p.Met907Leu) c.2620A>T (p.Met874Leu) c.3034A>T (p.Met1012Leu) | |
16 | g.9764666T>C | CA394709154 | GRIN2A | c.2878A>G (p.Met960Val) c.2407A>G (p.Met803Val) n.2471A>G c.*248A>G (n.*248A>G) c.2467A>G (p.Met823Val) n.2517A>G c.2719A>G (p.Met907Val) c.2620A>G (p.Met874Val) c.3034A>G (p.Met1012Val) | |
16 | g.9764666T>G | CA394709155 | GRIN2A | c.2878A>C (p.Met960Leu) c.2407A>C (p.Met803Leu) n.2471A>C c.*248A>C (n.*248A>C) c.2467A>C (p.Met823Leu) n.2517A>C c.2719A>C (p.Met907Leu) c.2620A>C (p.Met874Leu) c.3034A>C (p.Met1012Leu) | |
16 | g.9764667G>A | CA493693197 | GRIN2A | c.2877C>T (p.Asn959=) c.2406C>T (p.Asn802=) n.2470C>T c.*247C>T (n.*247C>T) c.2466C>T (p.Asn822=) n.2516C>T c.2718C>T (p.Asn906=) c.2619C>T (p.Asn873=) c.3033C>T (p.Asn1011=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764667G>C | CA394709156 | GRIN2A | c.2877C>G (p.Asn959Lys) c.2406C>G (p.Asn802Lys) n.2470C>G c.*247C>G (n.*247C>G) c.2466C>G (p.Asn822Lys) n.2516C>G c.2718C>G (p.Asn906Lys) c.2619C>G (p.Asn873Lys) c.3033C>G (p.Asn1011Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764667G= | CA2206693351 | GRIN2A | c.2877C= (p.Asn959=) c.2406C= (p.Asn802=) n.2470C= c.*247C= (n.*247C=) c.2466C= (p.Asn822=) n.2516C= c.2718C= (p.Asn906=) c.2619C= (p.Asn873=) c.3033C= (p.Asn1011=) | |
16 | g.9764667G>T | CA7896410 | GRIN2A | c.2877C>A (p.Asn959Lys) c.2406C>A (p.Asn802Lys) n.2470C>A c.*247C>A (n.*247C>A) c.2466C>A (p.Asn822Lys) n.2516C>A c.2718C>A (p.Asn906Lys) c.2619C>A (p.Asn873Lys) c.3033C>A (p.Asn1011Lys) | dbSNP ExAC gnomAD v2 COSMIC |
16 | g.9764668T>A | CA394709157 | GRIN2A | c.2876A>T (p.Asn959Ile) c.2405A>T (p.Asn802Ile) n.2469A>T c.*246A>T (n.*246A>T) c.2465A>T (p.Asn822Ile) n.2515A>T c.2717A>T (p.Asn906Ile) c.2618A>T (p.Asn873Ile) c.3032A>T (p.Asn1011Ile) | dbSNP |
16 | g.9764668T>C | CA394709158 | GRIN2A | c.2876A>G (p.Asn959Ser) c.2405A>G (p.Asn802Ser) n.2469A>G c.*246A>G (n.*246A>G) c.2465A>G (p.Asn822Ser) n.2515A>G c.2717A>G (p.Asn906Ser) c.2618A>G (p.Asn873Ser) c.3032A>G (p.Asn1011Ser) | gnomAD v4 |
16 | g.9764668T>G | CA394709159 | GRIN2A | c.2876A>C (p.Asn959Thr) c.2405A>C (p.Asn802Thr) n.2469A>C c.*246A>C (n.*246A>C) c.2465A>C (p.Asn822Thr) n.2515A>C c.2717A>C (p.Asn906Thr) c.2618A>C (p.Asn873Thr) c.3032A>C (p.Asn1011Thr) | |
16 | g.9764669T>A | CA394709160 | GRIN2A | c.2875A>T (p.Asn959Tyr) c.2404A>T (p.Asn802Tyr) n.2468A>T c.*245A>T (n.*245A>T) c.2464A>T (p.Asn822Tyr) n.2514A>T c.2716A>T (p.Asn906Tyr) c.2617A>T (p.Asn873Tyr) c.3031A>T (p.Asn1011Tyr) | dbSNP |
16 | g.9764669T>C | CA394709161 | GRIN2A | c.2875A>G (p.Asn959Asp) c.2404A>G (p.Asn802Asp) n.2468A>G c.*245A>G (n.*245A>G) c.2464A>G (p.Asn822Asp) n.2514A>G c.2716A>G (p.Asn906Asp) c.2617A>G (p.Asn873Asp) c.3031A>G (p.Asn1011Asp) | dbSNP |
16 | g.9764669T>G | CA394709162 | GRIN2A | c.2875A>C (p.Asn959His) c.2404A>C (p.Asn802His) n.2468A>C c.*245A>C (n.*245A>C) c.2464A>C (p.Asn822His) n.2514A>C c.2716A>C (p.Asn906His) c.2617A>C (p.Asn873His) c.3031A>C (p.Asn1011His) | |
16 | g.9764670G>A | CA493693203 | GRIN2A | c.2874C>T (p.Asp958=) c.2403C>T (p.Asp801=) n.2467C>T c.*244C>T (n.*244C>T) c.2463C>T (p.Asp821=) n.2513C>T c.2715C>T (p.Asp905=) c.2616C>T (p.Asp872=) c.3030C>T (p.Asp1010=) | dbSNP |
16 | g.9764670G>C | CA394709164 | GRIN2A | c.2874C>G (p.Asp958Glu) c.2403C>G (p.Asp801Glu) n.2467C>G c.*244C>G (n.*244C>G) c.2463C>G (p.Asp821Glu) n.2513C>G c.2715C>G (p.Asp905Glu) c.2616C>G (p.Asp872Glu) c.3030C>G (p.Asp1010Glu) | dbSNP |
16 | g.9764670G>T | CA394709163 | GRIN2A | c.2874C>A (p.Asp958Glu) c.2403C>A (p.Asp801Glu) n.2467C>A c.*244C>A (n.*244C>A) c.2463C>A (p.Asp821Glu) n.2513C>A c.2715C>A (p.Asp905Glu) c.2616C>A (p.Asp872Glu) c.3030C>A (p.Asp1010Glu) | |
16 | g.9764671T>A | CA394709165 | GRIN2A | c.2873A>T (p.Asp958Val) c.2402A>T (p.Asp801Val) n.2466A>T c.*243A>T (n.*243A>T) c.2462A>T (p.Asp821Val) n.2512A>T c.2714A>T (p.Asp905Val) c.2615A>T (p.Asp872Val) c.3029A>T (p.Asp1010Val) | dbSNP |
16 | g.9764671T>C | CA394709166 | GRIN2A | c.2873A>G (p.Asp958Gly) c.2402A>G (p.Asp801Gly) n.2466A>G c.*243A>G (n.*243A>G) c.2462A>G (p.Asp821Gly) n.2512A>G c.2714A>G (p.Asp905Gly) c.2615A>G (p.Asp872Gly) c.3029A>G (p.Asp1010Gly) | |
16 | g.9764671T>G | CA394709167 | GRIN2A | c.2873A>C (p.Asp958Ala) c.2402A>C (p.Asp801Ala) n.2466A>C c.*243A>C (n.*243A>C) c.2462A>C (p.Asp821Ala) n.2512A>C c.2714A>C (p.Asp905Ala) c.2615A>C (p.Asp872Ala) c.3029A>C (p.Asp1010Ala) | |
16 | g.9764672C>A | CA394709168 | GRIN2A | c.2872G>T (p.Asp958Tyr) c.2401G>T (p.Asp801Tyr) n.2465G>T c.*242G>T (n.*242G>T) c.2461G>T (p.Asp821Tyr) n.2511G>T c.2713G>T (p.Asp905Tyr) c.2614G>T (p.Asp872Tyr) c.3028G>T (p.Asp1010Tyr) | dbSNP |
16 | g.9764672C>G | CA394709169 | GRIN2A | c.2872G>C (p.Asp958His) c.2401G>C (p.Asp801His) n.2465G>C c.*242G>C (n.*242G>C) c.2461G>C (p.Asp821His) n.2511G>C c.2713G>C (p.Asp905His) c.2614G>C (p.Asp872His) c.3028G>C (p.Asp1010His) | dbSNP |
16 | g.9764672C>T | CA394709170 | GRIN2A | c.2872G>A (p.Asp958Asn) c.2401G>A (p.Asp801Asn) n.2465G>A c.*242G>A (n.*242G>A) c.2461G>A (p.Asp821Asn) n.2511G>A c.2713G>A (p.Asp905Asn) c.2614G>A (p.Asp872Asn) c.3028G>A (p.Asp1010Asn) | dbSNP gnomAD v4 |
16 | g.9764673T>A | CA493693210 | GRIN2A | c.2871A>T (p.Gly957=) c.2400A>T (p.Gly800=) n.2464A>T c.*241A>T (n.*241A>T) c.2460A>T (p.Gly820=) n.2510A>T c.2712A>T (p.Gly904=) c.2613A>T (p.Gly871=) c.3027A>T (p.Gly1009=) | |
16 | g.9764673T>C | CA493693211 | GRIN2A | c.2871A>G (p.Gly957=) c.2400A>G (p.Gly800=) n.2464A>G c.*241A>G (n.*241A>G) c.2460A>G (p.Gly820=) n.2510A>G c.2712A>G (p.Gly904=) c.2613A>G (p.Gly871=) c.3027A>G (p.Gly1009=) | |
16 | g.9764673T>G | CA493693212 | GRIN2A | c.2871A>C (p.Gly957=) c.2400A>C (p.Gly800=) n.2464A>C c.*241A>C (n.*241A>C) c.2460A>C (p.Gly820=) n.2510A>C c.2712A>C (p.Gly904=) c.2613A>C (p.Gly871=) c.3027A>C (p.Gly1009=) | |
16 | g.9764674C>A | CA394709173 | GRIN2A | c.2870G>T (p.Gly957Val) c.2399G>T (p.Gly800Val) n.2463G>T c.*240G>T (n.*240G>T) c.2459G>T (p.Gly820Val) n.2509G>T c.2711G>T (p.Gly904Val) c.2612G>T (p.Gly871Val) c.3026G>T (p.Gly1009Val) | dbSNP |
16 | g.9764674C>G | CA394709171 | GRIN2A | c.2870G>C (p.Gly957Ala) c.2399G>C (p.Gly800Ala) n.2463G>C c.*240G>C (n.*240G>C) c.2459G>C (p.Gly820Ala) n.2509G>C c.2711G>C (p.Gly904Ala) c.2612G>C (p.Gly871Ala) c.3026G>C (p.Gly1009Ala) | dbSNP |
16 | g.9764674C>T | CA394709172 | GRIN2A | c.2870G>A (p.Gly957Glu) c.2399G>A (p.Gly800Glu) n.2463G>A c.*240G>A (n.*240G>A) c.2459G>A (p.Gly820Glu) n.2509G>A c.2711G>A (p.Gly904Glu) c.2612G>A (p.Gly871Glu) c.3026G>A (p.Gly1009Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.9764675C>A | CA394709174 | GRIN2A | c.2869G>T (p.Gly957Ter) c.2398G>T (p.Gly800Ter) n.2462G>T c.*239G>T (n.*239G>T) c.2458G>T (p.Gly820Ter) n.2508G>T c.2710G>T (p.Gly904Ter) c.2611G>T (p.Gly871Ter) c.3025G>T (p.Gly1009Ter) | dbSNP |
16 | g.9764675C= | CA2206693352 | GRIN2A | c.2869G= (p.Gly957=) c.2398G= (p.Gly800=) n.2462G= c.*239G= (n.*239G=) c.2458G= (p.Gly820=) n.2508G= c.2710G= (p.Gly904=) c.2611G= (p.Gly871=) c.3025G= (p.Gly1009=) | |
16 | g.9764675C>G | CA394709175 | GRIN2A | c.2869G>C (p.Gly957Arg) c.2398G>C (p.Gly800Arg) n.2462G>C c.*239G>C (n.*239G>C) c.2458G>C (p.Gly820Arg) n.2508G>C c.2710G>C (p.Gly904Arg) c.2611G>C (p.Gly871Arg) c.3025G>C (p.Gly1009Arg) | |
16 | g.9764675C>T | CA394709176 | GRIN2A | c.2869G>A (p.Gly957Arg) c.2398G>A (p.Gly800Arg) n.2462G>A c.*239G>A (n.*239G>A) c.2458G>A (p.Gly820Arg) n.2508G>A c.2710G>A (p.Gly904Arg) c.2611G>A (p.Gly871Arg) c.3025G>A (p.Gly1009Arg) | |
16 | g.9764676A>C | CA394709177 | GRIN2A | c.2868T>G (p.Phe956Leu) c.2397T>G (p.Phe799Leu) n.2461T>G c.*238T>G (n.*238T>G) c.2457T>G (p.Phe819Leu) n.2507T>G c.2709T>G (p.Phe903Leu) c.2610T>G (p.Phe870Leu) c.3024T>G (p.Phe1008Leu) | |
16 | g.9764676A>G | CA493693214 | GRIN2A | c.2868T>C (p.Phe956=) c.2397T>C (p.Phe799=) n.2461T>C c.*238T>C (n.*238T>C) c.2457T>C (p.Phe819=) n.2507T>C c.2709T>C (p.Phe903=) c.2610T>C (p.Phe870=) c.3024T>C (p.Phe1008=) | |
16 | g.9764676A>T | CA394709178 | GRIN2A | c.2868T>A (p.Phe956Leu) c.2397T>A (p.Phe799Leu) n.2461T>A c.*238T>A (n.*238T>A) c.2457T>A (p.Phe819Leu) n.2507T>A c.2709T>A (p.Phe903Leu) c.2610T>A (p.Phe870Leu) c.3024T>A (p.Phe1008Leu) | dbSNP |
16 | g.9764677A>C | CA394709179 | GRIN2A | c.2867T>G (p.Phe956Cys) c.2396T>G (p.Phe799Cys) n.2460T>G c.*237T>G (n.*237T>G) c.2456T>G (p.Phe819Cys) n.2506T>G c.2708T>G (p.Phe903Cys) c.2609T>G (p.Phe870Cys) c.3023T>G (p.Phe1008Cys) | |
16 | g.9764677A>G | CA394709180 | GRIN2A | c.2867T>C (p.Phe956Ser) c.2396T>C (p.Phe799Ser) n.2460T>C c.*237T>C (n.*237T>C) c.2456T>C (p.Phe819Ser) n.2506T>C c.2708T>C (p.Phe903Ser) c.2609T>C (p.Phe870Ser) c.3023T>C (p.Phe1008Ser) | gnomAD v4 |
16 | g.9764677A>T | CA394709181 | GRIN2A | c.2867T>A (p.Phe956Tyr) c.2396T>A (p.Phe799Tyr) n.2460T>A c.*237T>A (n.*237T>A) c.2456T>A (p.Phe819Tyr) n.2506T>A c.2708T>A (p.Phe903Tyr) c.2609T>A (p.Phe870Tyr) c.3023T>A (p.Phe1008Tyr) | |
16 | g.9764678A>C | CA394709182 | GRIN2A | c.2866T>G (p.Phe956Val) c.2395T>G (p.Phe799Val) n.2459T>G c.*236T>G (n.*236T>G) c.2455T>G (p.Phe819Val) n.2505T>G c.2707T>G (p.Phe903Val) c.2608T>G (p.Phe870Val) c.3022T>G (p.Phe1008Val) | |
16 | g.9764678A>G | CA394709183 | GRIN2A | c.2866T>C (p.Phe956Leu) c.2395T>C (p.Phe799Leu) n.2459T>C c.*236T>C (n.*236T>C) c.2455T>C (p.Phe819Leu) n.2505T>C c.2707T>C (p.Phe903Leu) c.2608T>C (p.Phe870Leu) c.3022T>C (p.Phe1008Leu) | |
16 | g.9764678A>T | CA394709184 | GRIN2A | c.2866T>A (p.Phe956Ile) c.2395T>A (p.Phe799Ile) n.2459T>A c.*236T>A (n.*236T>A) c.2455T>A (p.Phe819Ile) n.2505T>A c.2707T>A (p.Phe903Ile) c.2608T>A (p.Phe870Ile) c.3022T>A (p.Phe1008Ile) | dbSNP |
16 | g.9764679A= | CA2206693353 | GRIN2A | c.2865T= (p.Ile955=) c.2394T= (p.Ile798=) n.2458T= c.*235T= (n.*235T=) c.2454T= (p.Ile818=) n.2504T= c.2706T= (p.Ile902=) c.2607T= (p.Ile869=) c.3021T= (p.Ile1007=) | |
16 | g.9764679A>C | CA394709185 | GRIN2A | c.2865T>G (p.Ile955Met) c.2394T>G (p.Ile798Met) n.2458T>G c.*235T>G (n.*235T>G) c.2454T>G (p.Ile818Met) n.2504T>G c.2706T>G (p.Ile902Met) c.2607T>G (p.Ile869Met) c.3021T>G (p.Ile1007Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764679A>G | CA493693221 | GRIN2A | c.2865T>C (p.Ile955=) c.2394T>C (p.Ile798=) n.2458T>C c.*235T>C (n.*235T>C) c.2454T>C (p.Ile818=) n.2504T>C c.2706T>C (p.Ile902=) c.2607T>C (p.Ile869=) c.3021T>C (p.Ile1007=) | |
16 | g.9764679A>T | CA493693223 | GRIN2A | c.2865T>A (p.Ile955=) c.2394T>A (p.Ile798=) n.2458T>A c.*235T>A (n.*235T>A) c.2454T>A (p.Ile818=) n.2504T>A c.2706T>A (p.Ile902=) c.2607T>A (p.Ile869=) c.3021T>A (p.Ile1007=) | |
16 | g.9764680A= | CA2206693354 | GRIN2A | c.2864T= (p.Ile955=) c.2393T= (p.Ile798=) n.2457T= c.*234T= (n.*234T=) c.2453T= (p.Ile818=) n.2503T= c.2705T= (p.Ile902=) c.2606T= (p.Ile869=) c.3020T= (p.Ile1007=) | |
16 | g.9764680A>C | CA394709186 | GRIN2A | c.2864T>G (p.Ile955Ser) c.2393T>G (p.Ile798Ser) n.2457T>G c.*234T>G (n.*234T>G) c.2453T>G (p.Ile818Ser) n.2503T>G c.2705T>G (p.Ile902Ser) c.2606T>G (p.Ile869Ser) c.3020T>G (p.Ile1007Ser) | dbSNP |
16 | g.9764680A>G | CA7896411 | GRIN2A | c.2864T>C (p.Ile955Thr) c.2393T>C (p.Ile798Thr) n.2457T>C c.*234T>C (n.*234T>C) c.2453T>C (p.Ile818Thr) n.2503T>C c.2705T>C (p.Ile902Thr) c.2606T>C (p.Ile869Thr) c.3020T>C (p.Ile1007Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764680A>T | CA394709187 | GRIN2A | c.2864T>A (p.Ile955Asn) c.2393T>A (p.Ile798Asn) n.2457T>A c.*234T>A (n.*234T>A) c.2453T>A (p.Ile818Asn) n.2503T>A c.2705T>A (p.Ile902Asn) c.2606T>A (p.Ile869Asn) c.3020T>A (p.Ile1007Asn) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764681T>A | CA394709188 | GRIN2A | c.2863A>T (p.Ile955Phe) c.2392A>T (p.Ile798Phe) n.2456A>T c.*233A>T (n.*233A>T) c.2452A>T (p.Ile818Phe) n.2502A>T c.2704A>T (p.Ile902Phe) c.2605A>T (p.Ile869Phe) c.3019A>T (p.Ile1007Phe) | dbSNP |
16 | g.9764681T>C | CA394709189 | GRIN2A | c.2863A>G (p.Ile955Val) c.2392A>G (p.Ile798Val) n.2456A>G c.*233A>G (n.*233A>G) c.2452A>G (p.Ile818Val) n.2502A>G c.2704A>G (p.Ile902Val) c.2605A>G (p.Ile869Val) c.3019A>G (p.Ile1007Val) | dbSNP gnomAD v4 |
16 | g.9764681T>G | CA394709190 | GRIN2A | c.2863A>C (p.Ile955Leu) c.2392A>C (p.Ile798Leu) n.2456A>C c.*233A>C (n.*233A>C) c.2452A>C (p.Ile818Leu) n.2502A>C c.2704A>C (p.Ile902Leu) c.2605A>C (p.Ile869Leu) c.3019A>C (p.Ile1007Leu) | dbSNP |
16 | g.9764682G>A | CA493693229 | GRIN2A | c.2862C>T (p.Ser954=) c.2391C>T (p.Ser797=) n.2455C>T c.*232C>T (n.*232C>T) c.2451C>T (p.Ser817=) n.2501C>T c.2703C>T (p.Ser901=) c.2604C>T (p.Ser868=) c.3018C>T (p.Ser1006=) | ClinVar gnomAD v4 |
16 | g.9764682G>C | CA394709191 | GRIN2A | c.2862C>G (p.Ser954Arg) c.2391C>G (p.Ser797Arg) n.2455C>G c.*232C>G (n.*232C>G) c.2451C>G (p.Ser817Arg) n.2501C>G c.2703C>G (p.Ser901Arg) c.2604C>G (p.Ser868Arg) c.3018C>G (p.Ser1006Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764682G= | CA2206693355 | GRIN2A | c.2862C= (p.Ser954=) c.2391C= (p.Ser797=) n.2455C= c.*232C= (n.*232C=) c.2451C= (p.Ser817=) n.2501C= c.2703C= (p.Ser901=) c.2604C= (p.Ser868=) c.3018C= (p.Ser1006=) | |
16 | g.9764682G>T | CA394709192 | GRIN2A | c.2862C>A (p.Ser954Arg) c.2391C>A (p.Ser797Arg) n.2455C>A c.*232C>A (n.*232C>A) c.2451C>A (p.Ser817Arg) n.2501C>A c.2703C>A (p.Ser901Arg) c.2604C>A (p.Ser868Arg) c.3018C>A (p.Ser1006Arg) | |
16 | g.9764683C>A | CA394709193 | GRIN2A | c.2861G>T (p.Ser954Ile) c.2390G>T (p.Ser797Ile) n.2454G>T c.*231G>T (n.*231G>T) c.2450G>T (p.Ser817Ile) n.2500G>T c.2702G>T (p.Ser901Ile) c.2603G>T (p.Ser868Ile) c.3017G>T (p.Ser1006Ile) | dbSNP |
16 | g.9764683C>G | CA394709194 | GRIN2A | c.2861G>C (p.Ser954Thr) c.2390G>C (p.Ser797Thr) n.2454G>C c.*231G>C (n.*231G>C) c.2450G>C (p.Ser817Thr) n.2500G>C c.2702G>C (p.Ser901Thr) c.2603G>C (p.Ser868Thr) c.3017G>C (p.Ser1006Thr) | ClinVar dbSNP |
16 | g.9764683C>T | CA394709195 | GRIN2A | c.2861G>A (p.Ser954Asn) c.2390G>A (p.Ser797Asn) n.2454G>A c.*231G>A (n.*231G>A) c.2450G>A (p.Ser817Asn) n.2500G>A c.2702G>A (p.Ser901Asn) c.2603G>A (p.Ser868Asn) c.3017G>A (p.Ser1006Asn) | COSMIC |
16 | g.9764684T>A | CA394709196 | GRIN2A | c.2860A>T (p.Ser954Cys) c.2389A>T (p.Ser797Cys) n.2453A>T c.*230A>T (n.*230A>T) c.2449A>T (p.Ser817Cys) n.2499A>T c.2701A>T (p.Ser901Cys) c.2602A>T (p.Ser868Cys) c.3016A>T (p.Ser1006Cys) | gnomAD v4 |
16 | g.9764684T>C | CA277538426 | GRIN2A | c.2860A>G (p.Ser954Gly) c.2389A>G (p.Ser797Gly) n.2453A>G c.*230A>G (n.*230A>G) c.2449A>G (p.Ser817Gly) n.2499A>G c.2701A>G (p.Ser901Gly) c.2602A>G (p.Ser868Gly) c.3016A>G (p.Ser1006Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764684T>G | CA394709197 | GRIN2A | c.2860A>C (p.Ser954Arg) c.2389A>C (p.Ser797Arg) n.2453A>C c.*230A>C (n.*230A>C) c.2449A>C (p.Ser817Arg) n.2499A>C c.2701A>C (p.Ser901Arg) c.2602A>C (p.Ser868Arg) c.3016A>C (p.Ser1006Arg) | |
16 | g.9764684T= | CA2206693356 | GRIN2A | c.2860A= (p.Ser954=) c.2389A= (p.Ser797=) n.2453A= c.*230A= (n.*230A=) c.2449A= (p.Ser817=) n.2499A= c.2701A= (p.Ser901=) c.2602A= (p.Ser868=) c.3016A= (p.Ser1006=) | |
16 | g.9764685C>A | CA394709198 | GRIN2A | c.2859G>T (p.Glu953Asp) c.2388G>T (p.Glu796Asp) n.2452G>T c.*229G>T (n.*229G>T) c.2448G>T (p.Glu816Asp) n.2498G>T c.2700G>T (p.Glu900Asp) c.2601G>T (p.Glu867Asp) c.3015G>T (p.Glu1005Asp) | dbSNP |
16 | g.9764685C= | CA2206693357 | GRIN2A | c.2859G= (p.Glu953=) c.2388G= (p.Glu796=) n.2452G= c.*229G= (n.*229G=) c.2448G= (p.Glu816=) n.2498G= c.2700G= (p.Glu900=) c.2601G= (p.Glu867=) c.3015G= (p.Glu1005=) | |
16 | g.9764685C>G | CA7896412 | GRIN2A | c.2859G>C (p.Glu953Asp) c.2388G>C (p.Glu796Asp) n.2452G>C c.*229G>C (n.*229G>C) c.2448G>C (p.Glu816Asp) n.2498G>C c.2700G>C (p.Glu900Asp) c.2601G>C (p.Glu867Asp) c.3015G>C (p.Glu1005Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764685C>T | CA277538430 | GRIN2A | c.2859G>A (p.Glu953=) c.2388G>A (p.Glu796=) n.2452G>A c.*229G>A (n.*229G>A) c.2448G>A (p.Glu816=) n.2498G>A c.2700G>A (p.Glu900=) c.2601G>A (p.Glu867=) c.3015G>A (p.Glu1005=) | dbSNP |
16 | g.9764686T>A | CA394709201 | GRIN2A | c.2858A>T (p.Glu953Val) c.2387A>T (p.Glu796Val) n.2451A>T c.*228A>T (n.*228A>T) c.2447A>T (p.Glu816Val) n.2497A>T c.2699A>T (p.Glu900Val) c.2600A>T (p.Glu867Val) c.3014A>T (p.Glu1005Val) | |
16 | g.9764686T>C | CA394709200 | GRIN2A | c.2858A>G (p.Glu953Gly) c.2387A>G (p.Glu796Gly) n.2451A>G c.*228A>G (n.*228A>G) c.2447A>G (p.Glu816Gly) n.2497A>G c.2699A>G (p.Glu900Gly) c.2600A>G (p.Glu867Gly) c.3014A>G (p.Glu1005Gly) | |
16 | g.9764686T>G | CA394709199 | GRIN2A | c.2858A>C (p.Glu953Ala) c.2387A>C (p.Glu796Ala) n.2451A>C c.*228A>C (n.*228A>C) c.2447A>C (p.Glu816Ala) n.2497A>C c.2699A>C (p.Glu900Ala) c.2600A>C (p.Glu867Ala) c.3014A>C (p.Glu1005Ala) | |
16 | g.9764687C>A | CA394709202 | GRIN2A | c.2857G>T (p.Glu953Ter) c.2386G>T (p.Glu796Ter) n.2450G>T c.*227G>T (n.*227G>T) c.2446G>T (p.Glu816Ter) n.2496G>T c.2698G>T (p.Glu900Ter) c.2599G>T (p.Glu867Ter) c.3013G>T (p.Glu1005Ter) | dbSNP |
16 | g.9764687C= | CA2206693358 | GRIN2A | c.2857G= (p.Glu953=) c.2386G= (p.Glu796=) n.2450G= c.*227G= (n.*227G=) c.2446G= (p.Glu816=) n.2496G= c.2698G= (p.Glu900=) c.2599G= (p.Glu867=) c.3013G= (p.Glu1005=) | |
16 | g.9764687C>G | CA394709203 | GRIN2A | c.2857G>C (p.Glu953Gln) c.2386G>C (p.Glu796Gln) n.2450G>C c.*227G>C (n.*227G>C) c.2446G>C (p.Glu816Gln) n.2496G>C c.2698G>C (p.Glu900Gln) c.2599G>C (p.Glu867Gln) c.3013G>C (p.Glu1005Gln) | dbSNP COSMIC |
16 | g.9764687C>T | CA394709204 | GRIN2A | c.2857G>A (p.Glu953Lys) c.2386G>A (p.Glu796Lys) n.2450G>A c.*227G>A (n.*227G>A) c.2446G>A (p.Glu816Lys) n.2496G>A c.2698G>A (p.Glu900Lys) c.2599G>A (p.Glu867Lys) c.3013G>A (p.Glu1005Lys) | dbSNP |
16 | g.9764688T>A | CA394709205 | GRIN2A | c.2856A>T (p.Lys952Asn) c.2385A>T (p.Lys795Asn) n.2449A>T c.*226A>T (n.*226A>T) c.2445A>T (p.Lys815Asn) n.2495A>T c.2697A>T (p.Lys899Asn) c.2598A>T (p.Lys866Asn) c.3012A>T (p.Lys1004Asn) | |
16 | g.9764688T>C | CA493693243 | GRIN2A | c.2856A>G (p.Lys952=) c.2385A>G (p.Lys795=) n.2449A>G c.*226A>G (n.*226A>G) c.2445A>G (p.Lys815=) n.2495A>G c.2697A>G (p.Lys899=) c.2598A>G (p.Lys866=) c.3012A>G (p.Lys1004=) | dbSNP COSMIC |
16 | g.9764688T>G | CA394709206 | GRIN2A | c.2856A>C (p.Lys952Asn) c.2385A>C (p.Lys795Asn) n.2449A>C c.*226A>C (n.*226A>C) c.2445A>C (p.Lys815Asn) n.2495A>C c.2697A>C (p.Lys899Asn) c.2598A>C (p.Lys866Asn) c.3012A>C (p.Lys1004Asn) | dbSNP gnomAD v4 |
16 | g.9764688T= | CA2206693359 | GRIN2A | c.2856A= (p.Lys952=) c.2385A= (p.Lys795=) n.2449A= c.*226A= (n.*226A=) c.2445A= (p.Lys815=) n.2495A= c.2697A= (p.Lys899=) c.2598A= (p.Lys866=) c.3012A= (p.Lys1004=) | |
16 | g.9764689T>A | CA394709207 | GRIN2A | c.2855A>T (p.Lys952Ile) c.2384A>T (p.Lys795Ile) n.2448A>T c.*225A>T (n.*225A>T) c.2444A>T (p.Lys815Ile) n.2494A>T c.2696A>T (p.Lys899Ile) c.2597A>T (p.Lys866Ile) c.3011A>T (p.Lys1004Ile) | |
16 | g.9764689T>C | CA394709208 | GRIN2A | c.2855A>G (p.Lys952Arg) c.2384A>G (p.Lys795Arg) n.2448A>G c.*225A>G (n.*225A>G) c.2444A>G (p.Lys815Arg) n.2494A>G c.2696A>G (p.Lys899Arg) c.2597A>G (p.Lys866Arg) c.3011A>G (p.Lys1004Arg) | dbSNP |
16 | g.9764689T>G | CA394709209 | GRIN2A | c.2855A>C (p.Lys952Thr) c.2384A>C (p.Lys795Thr) n.2448A>C c.*225A>C (n.*225A>C) c.2444A>C (p.Lys815Thr) n.2494A>C c.2696A>C (p.Lys899Thr) c.2597A>C (p.Lys866Thr) c.3011A>C (p.Lys1004Thr) | |
16 | g.9764689T= | CA2206693360 | GRIN2A | c.2855A= (p.Lys952=) c.2384A= (p.Lys795=) n.2448A= c.*225A= (n.*225A=) c.2444A= (p.Lys815=) n.2494A= c.2696A= (p.Lys899=) c.2597A= (p.Lys866=) c.3011A= (p.Lys1004=) | |
16 | g.9764690T>A | CA394709210 | GRIN2A | c.2854A>T (p.Lys952Ter) c.2383A>T (p.Lys795Ter) n.2447A>T c.*224A>T (n.*224A>T) c.2443A>T (p.Lys815Ter) n.2493A>T c.2695A>T (p.Lys899Ter) c.2596A>T (p.Lys866Ter) c.3010A>T (p.Lys1004Ter) | dbSNP |
16 | g.9764690T>C | CA394709211 | GRIN2A | c.2854A>G (p.Lys952Glu) c.2383A>G (p.Lys795Glu) n.2447A>G c.*224A>G (n.*224A>G) c.2443A>G (p.Lys815Glu) n.2493A>G c.2695A>G (p.Lys899Glu) c.2596A>G (p.Lys866Glu) c.3010A>G (p.Lys1004Glu) | |
16 | g.9764690T>G | CA394709212 | GRIN2A | c.2854A>C (p.Lys952Gln) c.2383A>C (p.Lys795Gln) n.2447A>C c.*224A>C (n.*224A>C) c.2443A>C (p.Lys815Gln) n.2493A>C c.2695A>C (p.Lys899Gln) c.2596A>C (p.Lys866Gln) c.3010A>C (p.Lys1004Gln) | |
16 | g.9764690T= | CA2206693361 | GRIN2A | c.2854A= (p.Lys952=) c.2383A= (p.Lys795=) n.2447A= c.*224A= (n.*224A=) c.2443A= (p.Lys815=) n.2493A= c.2695A= (p.Lys899=) c.2596A= (p.Lys866=) c.3010A= (p.Lys1004=) | |
16 | g.9764691C>A | CA493693246 | GRIN2A | c.2853G>T (p.Gly951=) c.2382G>T (p.Gly794=) n.2446G>T c.*223G>T (n.*223G>T) c.2442G>T (p.Gly814=) n.2492G>T c.2694G>T (p.Gly898=) c.2595G>T (p.Gly865=) c.3009G>T (p.Gly1003=) | gnomAD v4 |
16 | g.9764691C>G | CA493693249 | GRIN2A | c.2853G>C (p.Gly951=) c.2382G>C (p.Gly794=) n.2446G>C c.*223G>C (n.*223G>C) c.2442G>C (p.Gly814=) n.2492G>C c.2694G>C (p.Gly898=) c.2595G>C (p.Gly865=) c.3009G>C (p.Gly1003=) | dbSNP gnomAD v4 |
16 | g.9764691C>T | CA493693250 | GRIN2A | c.2853G>A (p.Gly951=) c.2382G>A (p.Gly794=) n.2446G>A c.*223G>A (n.*223G>A) c.2442G>A (p.Gly814=) n.2492G>A c.2694G>A (p.Gly898=) c.2595G>A (p.Gly865=) c.3009G>A (p.Gly1003=) | dbSNP |
16 | g.9764692C>A | CA314923 | GRIN2A | c.2852G>T (p.Gly951Val) c.2381G>T (p.Gly794Val) n.2445G>T c.*222G>T (n.*222G>T) c.2441G>T (p.Gly814Val) n.2491G>T c.2693G>T (p.Gly898Val) c.2594G>T (p.Gly865Val) c.3008G>T (p.Gly1003Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764692C= | CA2206693362 | GRIN2A | c.2852G= (p.Gly951=) c.2381G= (p.Gly794=) n.2445G= c.*222G= (n.*222G=) c.2441G= (p.Gly814=) n.2491G= c.2693G= (p.Gly898=) c.2594G= (p.Gly865=) c.3008G= (p.Gly1003=) | |
16 | g.9764692C>G | CA394709213 | GRIN2A | c.2852G>C (p.Gly951Ala) c.2381G>C (p.Gly794Ala) n.2445G>C c.*222G>C (n.*222G>C) c.2441G>C (p.Gly814Ala) n.2491G>C c.2693G>C (p.Gly898Ala) c.2594G>C (p.Gly865Ala) c.3008G>C (p.Gly1003Ala) | dbSNP |
16 | g.9764692C>T | CA394709214 | GRIN2A | c.2852G>A (p.Gly951Glu) c.2381G>A (p.Gly794Glu) n.2445G>A c.*222G>A (n.*222G>A) c.2441G>A (p.Gly814Glu) n.2491G>A c.2693G>A (p.Gly898Glu) c.2594G>A (p.Gly865Glu) c.3008G>A (p.Gly1003Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.9764693C>A | CA394709217 | GRIN2A | c.2851G>T (p.Gly951Trp) c.2380G>T (p.Gly794Trp) n.2444G>T c.*221G>T (n.*221G>T) c.2440G>T (p.Gly814Trp) n.2490G>T c.2692G>T (p.Gly898Trp) c.2593G>T (p.Gly865Trp) c.3007G>T (p.Gly1003Trp) | dbSNP gnomAD v4 |
16 | g.9764693C>G | CA394709216 | GRIN2A | c.2851G>C (p.Gly951Arg) c.2380G>C (p.Gly794Arg) n.2444G>C c.*221G>C (n.*221G>C) c.2440G>C (p.Gly814Arg) n.2490G>C c.2692G>C (p.Gly898Arg) c.2593G>C (p.Gly865Arg) c.3007G>C (p.Gly1003Arg) | dbSNP |
16 | g.9764693C>T | CA394709215 | GRIN2A | c.2851G>A (p.Gly951Arg) c.2380G>A (p.Gly794Arg) n.2444G>A c.*221G>A (n.*221G>A) c.2440G>A (p.Gly814Arg) n.2490G>A c.2692G>A (p.Gly898Arg) c.2593G>A (p.Gly865Arg) c.3007G>A (p.Gly1003Arg) | dbSNP |
16 | g.9764694C>A | CA394709218 | GRIN2A | c.2850G>T (p.Gln950His) c.2379G>T (p.Gln793His) n.2443G>T c.*220G>T (n.*220G>T) c.2439G>T (p.Gln813His) n.2489G>T c.2691G>T (p.Gln897His) c.2592G>T (p.Gln864His) c.3006G>T (p.Gln1002His) | |
16 | g.9764694C>G | CA394709219 | GRIN2A | c.2850G>C (p.Gln950His) c.2379G>C (p.Gln793His) n.2443G>C c.*220G>C (n.*220G>C) c.2439G>C (p.Gln813His) n.2489G>C c.2691G>C (p.Gln897His) c.2592G>C (p.Gln864His) c.3006G>C (p.Gln1002His) | dbSNP |
16 | g.9764694C>T | CA493693254 | GRIN2A | c.2850G>A (p.Gln950=) c.2379G>A (p.Gln793=) n.2443G>A c.*220G>A (n.*220G>A) c.2439G>A (p.Gln813=) n.2489G>A c.2691G>A (p.Gln897=) c.2592G>A (p.Gln864=) c.3006G>A (p.Gln1002=) | dbSNP |
16 | g.9764695T>A | CA394709220 | GRIN2A | c.2849A>T (p.Gln950Leu) c.2378A>T (p.Gln793Leu) n.2442A>T c.*219A>T (n.*219A>T) c.2438A>T (p.Gln813Leu) n.2488A>T c.2690A>T (p.Gln897Leu) c.2591A>T (p.Gln864Leu) c.3005A>T (p.Gln1002Leu) | dbSNP |
16 | g.9764695T>C | CA394709221 | GRIN2A | c.2849A>G (p.Gln950Arg) c.2378A>G (p.Gln793Arg) n.2442A>G c.*219A>G (n.*219A>G) c.2438A>G (p.Gln813Arg) n.2488A>G c.2690A>G (p.Gln897Arg) c.2591A>G (p.Gln864Arg) c.3005A>G (p.Gln1002Arg) | dbSNP |
16 | g.9764695T>G | CA394709222 | GRIN2A | c.2849A>C (p.Gln950Pro) c.2378A>C (p.Gln793Pro) n.2442A>C c.*219A>C (n.*219A>C) c.2438A>C (p.Gln813Pro) n.2488A>C c.2690A>C (p.Gln897Pro) c.2591A>C (p.Gln864Pro) c.3005A>C (p.Gln1002Pro) | |
16 | g.9764696G>A | CA314952 | GRIN2A | c.2848C>T (p.Gln950Ter) c.2377C>T (p.Gln793Ter) n.2441C>T c.*218C>T (n.*218C>T) c.2437C>T (p.Gln813Ter) n.2487C>T c.2689C>T (p.Gln897Ter) c.2590C>T (p.Gln864Ter) c.3004C>T (p.Gln1002Ter) | dbSNP |
16 | g.9764696G>C | CA394709223 | GRIN2A | c.2848C>G (p.Gln950Glu) c.2377C>G (p.Gln793Glu) n.2441C>G c.*218C>G (n.*218C>G) c.2437C>G (p.Gln813Glu) n.2487C>G c.2689C>G (p.Gln897Glu) c.2590C>G (p.Gln864Glu) c.3004C>G (p.Gln1002Glu) | dbSNP COSMIC |
16 | g.9764696G= | CA2206693363 | GRIN2A | c.2848C= (p.Gln950=) c.2377C= (p.Gln793=) n.2441C= c.*218C= (n.*218C=) c.2437C= (p.Gln813=) n.2487C= c.2689C= (p.Gln897=) c.2590C= (p.Gln864=) c.3004C= (p.Gln1002=) | |
16 | g.9764696G>T | CA394709224 | GRIN2A | c.2848C>A (p.Gln950Lys) c.2377C>A (p.Gln793Lys) n.2441C>A c.*218C>A (n.*218C>A) c.2437C>A (p.Gln813Lys) n.2487C>A c.2689C>A (p.Gln897Lys) c.2590C>A (p.Gln864Lys) c.3004C>A (p.Gln1002Lys) | dbSNP |
16 | g.9764697A>C | CA394709225 | GRIN2A | c.2847T>G (p.Phe949Leu) c.2376T>G (p.Phe792Leu) n.2440T>G c.*217T>G (n.*217T>G) c.2436T>G (p.Phe812Leu) n.2486T>G c.2688T>G (p.Phe896Leu) c.2589T>G (p.Phe863Leu) c.3003T>G (p.Phe1001Leu) | |
16 | g.9764697A>G | CA493693257 | GRIN2A | c.2847T>C (p.Phe949=) c.2376T>C (p.Phe792=) n.2440T>C c.*217T>C (n.*217T>C) c.2436T>C (p.Phe812=) n.2486T>C c.2688T>C (p.Phe896=) c.2589T>C (p.Phe863=) c.3003T>C (p.Phe1001=) | |
16 | g.9764697A>T | CA394709226 | GRIN2A | c.2847T>A (p.Phe949Leu) c.2376T>A (p.Phe792Leu) n.2440T>A c.*217T>A (n.*217T>A) c.2436T>A (p.Phe812Leu) n.2486T>A c.2688T>A (p.Phe896Leu) c.2589T>A (p.Phe863Leu) c.3003T>A (p.Phe1001Leu) | dbSNP |
16 | g.9764698A>C | CA394709227 | GRIN2A | c.2846T>G (p.Phe949Cys) c.2375T>G (p.Phe792Cys) n.2439T>G c.*216T>G (n.*216T>G) c.2435T>G (p.Phe812Cys) n.2485T>G c.2687T>G (p.Phe896Cys) c.2588T>G (p.Phe863Cys) c.3002T>G (p.Phe1001Cys) | |
16 | g.9764698A>G | CA394709228 | GRIN2A | c.2846T>C (p.Phe949Ser) c.2375T>C (p.Phe792Ser) n.2439T>C c.*216T>C (n.*216T>C) c.2435T>C (p.Phe812Ser) n.2485T>C c.2687T>C (p.Phe896Ser) c.2588T>C (p.Phe863Ser) c.3002T>C (p.Phe1001Ser) | |
16 | g.9764698A>T | CA394709229 | GRIN2A | c.2846T>A (p.Phe949Tyr) c.2375T>A (p.Phe792Tyr) n.2439T>A c.*216T>A (n.*216T>A) c.2435T>A (p.Phe812Tyr) n.2485T>A c.2687T>A (p.Phe896Tyr) c.2588T>A (p.Phe863Tyr) c.3002T>A (p.Phe1001Tyr) | |
16 | g.9764699A>C | CA394709232 | GRIN2A | c.2845T>G (p.Phe949Val) c.2374T>G (p.Phe792Val) n.2438T>G c.*215T>G (n.*215T>G) c.2434T>G (p.Phe812Val) n.2484T>G c.2686T>G (p.Phe896Val) c.2587T>G (p.Phe863Val) c.3001T>G (p.Phe1001Val) | |
16 | g.9764699A>G | CA394709231 | GRIN2A | c.2845T>C (p.Phe949Leu) c.2374T>C (p.Phe792Leu) n.2438T>C c.*215T>C (n.*215T>C) c.2434T>C (p.Phe812Leu) n.2484T>C c.2686T>C (p.Phe896Leu) c.2587T>C (p.Phe863Leu) c.3001T>C (p.Phe1001Leu) | |
16 | g.9764699A>T | CA394709230 | GRIN2A | c.2845T>A (p.Phe949Ile) c.2374T>A (p.Phe792Ile) n.2438T>A c.*215T>A (n.*215T>A) c.2434T>A (p.Phe812Ile) n.2484T>A c.2686T>A (p.Phe896Ile) c.2587T>A (p.Phe863Ile) c.3001T>A (p.Phe1001Ile) | dbSNP |