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.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 |
16 | g.9764700G>A | CA493693260 | GRIN2A | c.2844C>T (p.Ser948=) c.2373C>T (p.Ser791=) n.2437C>T c.*214C>T (n.*214C>T) c.2433C>T (p.Ser811=) n.2483C>T c.2685C>T (p.Ser895=) c.2586C>T (p.Ser862=) c.3000C>T (p.Ser1000=) | dbSNP |
16 | g.9764700G>C | CA493693261 | GRIN2A | c.2844C>G (p.Ser948=) c.2373C>G (p.Ser791=) n.2437C>G c.*214C>G (n.*214C>G) c.2433C>G (p.Ser811=) n.2483C>G c.2685C>G (p.Ser895=) c.2586C>G (p.Ser862=) c.3000C>G (p.Ser1000=) | dbSNP |
16 | g.9764700G>T | CA493693262 | GRIN2A | c.2844C>A (p.Ser948=) c.2373C>A (p.Ser791=) n.2437C>A c.*214C>A (n.*214C>A) c.2433C>A (p.Ser811=) n.2483C>A c.2685C>A (p.Ser895=) c.2586C>A (p.Ser862=) c.3000C>A (p.Ser1000=) | |
16 | g.9764701del | CA2580613421 | GRIN2A | c.2844del (p.Gln950ArgfsTer11) c.2373del (p.Gln793ArgfsTer11) n.2437del c.*214del (n.*214del) c.2433del (p.Gln813ArgfsTer11) n.2483del c.2685del (p.Gln897ArgfsTer11) c.2586del (p.Gln864ArgfsTer11) c.3000del (p.Gln1002ArgfsTer11) | ClinVar |
16 | g.9764701G>A | CA394709233 | GRIN2A | c.2843C>T (p.Ser948Phe) c.2372C>T (p.Ser791Phe) n.2436C>T c.*213C>T (n.*213C>T) c.2432C>T (p.Ser811Phe) n.2482C>T c.2684C>T (p.Ser895Phe) c.2585C>T (p.Ser862Phe) c.2999C>T (p.Ser1000Phe) | dbSNP gnomAD v4 |
16 | g.9764701G>C | CA394709234 | GRIN2A | c.2843C>G (p.Ser948Cys) c.2372C>G (p.Ser791Cys) n.2436C>G c.*213C>G (n.*213C>G) c.2432C>G (p.Ser811Cys) n.2482C>G c.2684C>G (p.Ser895Cys) c.2585C>G (p.Ser862Cys) c.2999C>G (p.Ser1000Cys) | dbSNP |
16 | g.9764701G>T | CA394709235 | GRIN2A | c.2843C>A (p.Ser948Tyr) c.2372C>A (p.Ser791Tyr) n.2436C>A c.*213C>A (n.*213C>A) c.2432C>A (p.Ser811Tyr) n.2482C>A c.2684C>A (p.Ser895Tyr) c.2585C>A (p.Ser862Tyr) c.2999C>A (p.Ser1000Tyr) | dbSNP |
16 | g.9764702A= | CA2206693364 | GRIN2A | c.2842T= (p.Ser948=) c.2371T= (p.Ser791=) n.2435T= c.*212T= (n.*212T=) c.2431T= (p.Ser811=) n.2481T= c.2683T= (p.Ser895=) c.2584T= (p.Ser862=) c.2998T= (p.Ser1000=) | |
16 | g.9764702A>C | CA394709236 | GRIN2A | c.2842T>G (p.Ser948Ala) c.2371T>G (p.Ser791Ala) n.2435T>G c.*212T>G (n.*212T>G) c.2431T>G (p.Ser811Ala) n.2481T>G c.2683T>G (p.Ser895Ala) c.2584T>G (p.Ser862Ala) c.2998T>G (p.Ser1000Ala) | dbSNP |
16 | g.9764702A>G | CA394709237 | GRIN2A | c.2842T>C (p.Ser948Pro) c.2371T>C (p.Ser791Pro) n.2435T>C c.*212T>C (n.*212T>C) c.2431T>C (p.Ser811Pro) n.2481T>C c.2683T>C (p.Ser895Pro) c.2584T>C (p.Ser862Pro) c.2998T>C (p.Ser1000Pro) | dbSNP gnomAD v4 |
16 | g.9764702A>T | CA394709238 | GRIN2A | c.2842T>A (p.Ser948Thr) c.2371T>A (p.Ser791Thr) n.2435T>A c.*212T>A (n.*212T>A) c.2431T>A (p.Ser811Thr) n.2481T>A c.2683T>A (p.Ser895Thr) c.2584T>A (p.Ser862Thr) c.2998T>A (p.Ser1000Thr) | ClinVar dbSNP |
16 | g.9764703C>A | CA394709239 | GRIN2A | c.2841G>T (p.Arg947Ser) c.2370G>T (p.Arg790Ser) n.2434G>T c.*211G>T (n.*211G>T) c.2430G>T (p.Arg810Ser) n.2480G>T c.2682G>T (p.Arg894Ser) c.2583G>T (p.Arg861Ser) c.2997G>T (p.Arg999Ser) | dbSNP gnomAD v4 |
16 | g.9764703C= | CA2206693365 | GRIN2A | c.2841G= (p.Arg947=) c.2370G= (p.Arg790=) n.2434G= c.*211G= (n.*211G=) c.2430G= (p.Arg810=) n.2480G= c.2682G= (p.Arg894=) c.2583G= (p.Arg861=) c.2997G= (p.Arg999=) | |
16 | g.9764703C>G | CA394709240 | GRIN2A | c.2841G>C (p.Arg947Ser) c.2370G>C (p.Arg790Ser) n.2434G>C c.*211G>C (n.*211G>C) c.2430G>C (p.Arg810Ser) n.2480G>C c.2682G>C (p.Arg894Ser) c.2583G>C (p.Arg861Ser) c.2997G>C (p.Arg999Ser) | dbSNP |
16 | g.9764703C>T | CA493693266 | GRIN2A | c.2841G>A (p.Arg947=) c.2370G>A (p.Arg790=) n.2434G>A c.*211G>A (n.*211G>A) c.2430G>A (p.Arg810=) n.2480G>A c.2682G>A (p.Arg894=) c.2583G>A (p.Arg861=) c.2997G>A (p.Arg999=) | dbSNP gnomAD v4 |
16 | g.9764704C>A | CA394709241 | GRIN2A | c.2840G>T (p.Arg947Met) c.2369G>T (p.Arg790Met) n.2433G>T c.*210G>T (n.*210G>T) c.2429G>T (p.Arg810Met) n.2479G>T c.2681G>T (p.Arg894Met) c.2582G>T (p.Arg861Met) c.2996G>T (p.Arg999Met) | dbSNP |
16 | g.9764704C>G | CA394709242 | GRIN2A | c.2840G>C (p.Arg947Thr) c.2369G>C (p.Arg790Thr) n.2433G>C c.*210G>C (n.*210G>C) c.2429G>C (p.Arg810Thr) n.2479G>C c.2681G>C (p.Arg894Thr) c.2582G>C (p.Arg861Thr) c.2996G>C (p.Arg999Thr) | dbSNP gnomAD v4 |
16 | g.9764704C>T | CA394709243 | GRIN2A | c.2840G>A (p.Arg947Lys) c.2369G>A (p.Arg790Lys) n.2433G>A c.*210G>A (n.*210G>A) c.2429G>A (p.Arg810Lys) n.2479G>A c.2681G>A (p.Arg894Lys) c.2582G>A (p.Arg861Lys) c.2996G>A (p.Arg999Lys) | dbSNP gnomAD v4 |
16 | g.9764705T>A | CA394709244 | GRIN2A | c.2839A>T (p.Arg947Trp) c.2368A>T (p.Arg790Trp) n.2432A>T c.*209A>T (n.*209A>T) c.2428A>T (p.Arg810Trp) n.2478A>T c.2680A>T (p.Arg894Trp) c.2581A>T (p.Arg861Trp) c.2995A>T (p.Arg999Trp) | dbSNP |
16 | g.9764705T>C | CA394709245 | GRIN2A | c.2839A>G (p.Arg947Gly) c.2368A>G (p.Arg790Gly) n.2432A>G c.*209A>G (n.*209A>G) c.2428A>G (p.Arg810Gly) n.2478A>G c.2680A>G (p.Arg894Gly) c.2581A>G (p.Arg861Gly) c.2995A>G (p.Arg999Gly) | dbSNP |
16 | g.9764705T>G | CA493693269 | GRIN2A | c.2839A>C (p.Arg947=) c.2368A>C (p.Arg790=) n.2432A>C c.*209A>C (n.*209A>C) c.2428A>C (p.Arg810=) n.2478A>C c.2680A>C (p.Arg894=) c.2581A>C (p.Arg861=) c.2995A>C (p.Arg999=) | |
16 | g.9764708_9764710dup | CA2590992970 | GRIN2A | c.2837_2839dup (p.Asn946_Arg947insAsn) c.2366_2368dup (p.Asn789_Arg790insAsn) n.2430_2432dup c.*207_*209dup (n.*207_*209dup) c.2426_2428dup (p.Asn809_Arg810insAsn) n.2476_2478dup c.2678_2680dup (p.Asn893_Arg894insAsn) c.2579_2581dup (p.Asn860_Arg861insAsn) c.2993_2995dup (p.Asn998_Arg999insAsn) | gnomAD v3 gnomAD v4 |
16 | g.9764706G>A | CA277538458 | GRIN2A | c.2838C>T (p.Asn946=) c.2367C>T (p.Asn789=) n.2431C>T c.*208C>T (n.*208C>T) c.2427C>T (p.Asn809=) n.2477C>T c.2679C>T (p.Asn893=) c.2580C>T (p.Asn860=) c.2994C>T (p.Asn998=) | ClinVar dbSNP gnomAD v4 |
16 | g.9764706G>C | CA394709247 | GRIN2A | c.2838C>G (p.Asn946Lys) c.2367C>G (p.Asn789Lys) n.2431C>G c.*208C>G (n.*208C>G) c.2427C>G (p.Asn809Lys) n.2477C>G c.2679C>G (p.Asn893Lys) c.2580C>G (p.Asn860Lys) c.2994C>G (p.Asn998Lys) | |
16 | g.9764706G= | CA2206693366 | GRIN2A | c.2838C= (p.Asn946=) c.2367C= (p.Asn789=) n.2431C= c.*208C= (n.*208C=) c.2427C= (p.Asn809=) n.2477C= c.2679C= (p.Asn893=) c.2580C= (p.Asn860=) c.2994C= (p.Asn998=) | |
16 | g.9764706G>T | CA394709246 | GRIN2A | c.2838C>A (p.Asn946Lys) c.2367C>A (p.Asn789Lys) n.2431C>A c.*208C>A (n.*208C>A) c.2427C>A (p.Asn809Lys) n.2477C>A c.2679C>A (p.Asn893Lys) c.2580C>A (p.Asn860Lys) c.2994C>A (p.Asn998Lys) | gnomAD v4 |
16 | g.9764707T>A | CA394709248 | GRIN2A | c.2837A>T (p.Asn946Ile) c.2366A>T (p.Asn789Ile) n.2430A>T c.*207A>T (n.*207A>T) c.2426A>T (p.Asn809Ile) n.2476A>T c.2678A>T (p.Asn893Ile) c.2579A>T (p.Asn860Ile) c.2993A>T (p.Asn998Ile) | dbSNP |
16 | g.9764707T>C | CA394709250 | GRIN2A | c.2837A>G (p.Asn946Ser) c.2366A>G (p.Asn789Ser) n.2430A>G c.*207A>G (n.*207A>G) c.2426A>G (p.Asn809Ser) n.2476A>G c.2678A>G (p.Asn893Ser) c.2579A>G (p.Asn860Ser) c.2993A>G (p.Asn998Ser) | dbSNP gnomAD v4 |
16 | g.9764707T>G | CA394709249 | GRIN2A | c.2837A>C (p.Asn946Thr) c.2366A>C (p.Asn789Thr) n.2430A>C c.*207A>C (n.*207A>C) c.2426A>C (p.Asn809Thr) n.2476A>C c.2678A>C (p.Asn893Thr) c.2579A>C (p.Asn860Thr) c.2993A>C (p.Asn998Thr) | dbSNP |
16 | g.9764708T>A | CA394709251 | GRIN2A | c.2836A>T (p.Asn946Tyr) c.2365A>T (p.Asn789Tyr) n.2429A>T c.*206A>T (n.*206A>T) c.2425A>T (p.Asn809Tyr) n.2475A>T c.2677A>T (p.Asn893Tyr) c.2578A>T (p.Asn860Tyr) c.2992A>T (p.Asn998Tyr) | dbSNP |
16 | g.9764708T>C | CA394709252 | GRIN2A | c.2836A>G (p.Asn946Asp) c.2365A>G (p.Asn789Asp) n.2429A>G c.*206A>G (n.*206A>G) c.2425A>G (p.Asn809Asp) n.2475A>G c.2677A>G (p.Asn893Asp) c.2578A>G (p.Asn860Asp) c.2992A>G (p.Asn998Asp) | |
16 | g.9764708T>G | CA394709253 | GRIN2A | c.2836A>C (p.Asn946His) c.2365A>C (p.Asn789His) n.2429A>C c.*206A>C (n.*206A>C) c.2425A>C (p.Asn809His) n.2475A>C c.2677A>C (p.Asn893His) c.2578A>C (p.Asn860His) c.2992A>C (p.Asn998His) | |
16 | g.9764709G>A | CA493693276 | GRIN2A | c.2835C>T (p.Asp945=) c.2364C>T (p.Asp788=) n.2428C>T c.*205C>T (n.*205C>T) c.2424C>T (p.Asp808=) n.2474C>T c.2676C>T (p.Asp892=) c.2577C>T (p.Asp859=) c.2991C>T (p.Asp997=) | |
16 | g.9764709G>C | CA7896413 | GRIN2A | c.2835C>G (p.Asp945Glu) c.2364C>G (p.Asp788Glu) n.2428C>G c.*205C>G (n.*205C>G) c.2424C>G (p.Asp808Glu) n.2474C>G c.2676C>G (p.Asp892Glu) c.2577C>G (p.Asp859Glu) c.2991C>G (p.Asp997Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764709G= | CA2206693367 | GRIN2A | c.2835C= (p.Asp945=) c.2364C= (p.Asp788=) n.2428C= c.*205C= (n.*205C=) c.2424C= (p.Asp808=) n.2474C= c.2676C= (p.Asp892=) c.2577C= (p.Asp859=) c.2991C= (p.Asp997=) | |
16 | g.9764709G>T | CA394709254 | GRIN2A | c.2835C>A (p.Asp945Glu) c.2364C>A (p.Asp788Glu) n.2428C>A c.*205C>A (n.*205C>A) c.2424C>A (p.Asp808Glu) n.2474C>A c.2676C>A (p.Asp892Glu) c.2577C>A (p.Asp859Glu) c.2991C>A (p.Asp997Glu) | dbSNP gnomAD v4 |
16 | g.9764710T>A | CA394709255 | GRIN2A | c.2834A>T (p.Asp945Val) c.2363A>T (p.Asp788Val) n.2427A>T c.*204A>T (n.*204A>T) c.2423A>T (p.Asp808Val) n.2473A>T c.2675A>T (p.Asp892Val) c.2576A>T (p.Asp859Val) c.2990A>T (p.Asp997Val) | dbSNP |
16 | g.9764710T>C | CA394709256 | GRIN2A | c.2834A>G (p.Asp945Gly) c.2363A>G (p.Asp788Gly) n.2427A>G c.*204A>G (n.*204A>G) c.2423A>G (p.Asp808Gly) n.2473A>G c.2675A>G (p.Asp892Gly) c.2576A>G (p.Asp859Gly) c.2990A>G (p.Asp997Gly) | dbSNP |
16 | g.9764710T>G | CA394709257 | GRIN2A | c.2834A>C (p.Asp945Ala) c.2363A>C (p.Asp788Ala) n.2427A>C c.*204A>C (n.*204A>C) c.2423A>C (p.Asp808Ala) n.2473A>C c.2675A>C (p.Asp892Ala) c.2576A>C (p.Asp859Ala) c.2990A>C (p.Asp997Ala) | dbSNP |
16 | g.9764711C>A | CA394709258 | GRIN2A | c.2833G>T (p.Asp945Tyr) c.2362G>T (p.Asp788Tyr) n.2426G>T c.*203G>T (n.*203G>T) c.2422G>T (p.Asp808Tyr) n.2472G>T c.2674G>T (p.Asp892Tyr) c.2575G>T (p.Asp859Tyr) c.2989G>T (p.Asp997Tyr) | |
16 | g.9764711C= | CA2206693368 | GRIN2A | c.2833G= (p.Asp945=) c.2362G= (p.Asp788=) n.2426G= c.*203G= (n.*203G=) c.2422G= (p.Asp808=) n.2472G= c.2674G= (p.Asp892=) c.2575G= (p.Asp859=) c.2989G= (p.Asp997=) | |
16 | g.9764711C>G | CA394709259 | GRIN2A | c.2833G>C (p.Asp945His) c.2362G>C (p.Asp788His) n.2426G>C c.*203G>C (n.*203G>C) c.2422G>C (p.Asp808His) n.2472G>C c.2674G>C (p.Asp892His) c.2575G>C (p.Asp859His) c.2989G>C (p.Asp997His) | |
16 | g.9764711C>T | CA394709260 | GRIN2A | c.2833G>A (p.Asp945Asn) c.2362G>A (p.Asp788Asn) n.2426G>A c.*203G>A (n.*203G>A) c.2422G>A (p.Asp808Asn) n.2472G>A c.2674G>A (p.Asp892Asn) c.2575G>A (p.Asp859Asn) c.2989G>A (p.Asp997Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764714_9764715insACTGA | CA2499223891 | GRIN2A | c.2833_2834insTTCAG (p.Asp945ValfsTer18) c.2362_2363insTTCAG (p.Asp788ValfsTer18) n.2426_2427insTTCAG c.*203_*204insTTCAG (n.*203_*204insTTCAG) c.2422_2423insTTCAG (p.Asp808ValfsTer18) n.2472_2473insTTCAG c.2674_2675insTTCAG (p.Asp892ValfsTer18) c.2575_2576insTTCAG (p.Asp859ValfsTer18) c.2989_2990insTTCAG (p.Asp997ValfsTer18) | ClinVar dbSNP |
16 | g.9764712T>A | CA493693284 | GRIN2A | c.2832A>T (p.Ser944=) c.2361A>T (p.Ser787=) n.2425A>T c.*202A>T (n.*202A>T) c.2421A>T (p.Ser807=) n.2471A>T c.2673A>T (p.Ser891=) c.2574A>T (p.Ser858=) c.2988A>T (p.Ser996=) | dbSNP |
16 | g.9764712T>C | CA493693285 | GRIN2A | c.2832A>G (p.Ser944=) c.2361A>G (p.Ser787=) n.2425A>G c.*202A>G (n.*202A>G) c.2421A>G (p.Ser807=) n.2471A>G c.2673A>G (p.Ser891=) c.2574A>G (p.Ser858=) c.2988A>G (p.Ser996=) | dbSNP |
16 | g.9764712T>G | CA493693288 | GRIN2A | c.2832A>C (p.Ser944=) c.2361A>C (p.Ser787=) n.2425A>C c.*202A>C (n.*202A>C) c.2421A>C (p.Ser807=) n.2471A>C c.2673A>C (p.Ser891=) c.2574A>C (p.Ser858=) c.2988A>C (p.Ser996=) | |
16 | g.9764712T= | CA2206693369 | GRIN2A | c.2832A= (p.Ser944=) c.2361A= (p.Ser787=) n.2425A= c.*202A= (n.*202A=) c.2421A= (p.Ser807=) n.2471A= c.2673A= (p.Ser891=) c.2574A= (p.Ser858=) c.2988A= (p.Ser996=) | |
16 | g.9764713G>A | CA16620320 | GRIN2A | c.2831C>T (p.Ser944Leu) c.2360C>T (p.Ser787Leu) n.2424C>T c.*201C>T (n.*201C>T) c.2420C>T (p.Ser807Leu) n.2470C>T c.2672C>T (p.Ser891Leu) c.2573C>T (p.Ser858Leu) c.2987C>T (p.Ser996Leu) | ClinVar dbSNP |
16 | g.9764713G>C | CA394709261 | GRIN2A | c.2831C>G (p.Ser944Ter) c.2360C>G (p.Ser787Ter) n.2424C>G c.*201C>G (n.*201C>G) c.2420C>G (p.Ser807Ter) n.2470C>G c.2672C>G (p.Ser891Ter) c.2573C>G (p.Ser858Ter) c.2987C>G (p.Ser996Ter) | dbSNP |
16 | g.9764713G= | CA2206693370 | GRIN2A | c.2831C= (p.Ser944=) c.2360C= (p.Ser787=) n.2424C= c.*201C= (n.*201C=) c.2420C= (p.Ser807=) n.2470C= c.2672C= (p.Ser891=) c.2573C= (p.Ser858=) c.2987C= (p.Ser996=) | |
16 | g.9764713G>T | CA394709262 | GRIN2A | c.2831C>A (p.Ser944Ter) c.2360C>A (p.Ser787Ter) n.2424C>A c.*201C>A (n.*201C>A) c.2420C>A (p.Ser807Ter) n.2470C>A c.2672C>A (p.Ser891Ter) c.2573C>A (p.Ser858Ter) c.2987C>A (p.Ser996Ter) | |
16 | g.9764714A= | CA2206693371 | GRIN2A | c.2830T= (p.Ser944=) c.2359T= (p.Ser787=) n.2423T= c.*200T= (n.*200T=) c.2419T= (p.Ser807=) n.2469T= c.2671T= (p.Ser891=) c.2572T= (p.Ser858=) c.2986T= (p.Ser996=) | |
16 | g.9764714A>C | CA394709263 | GRIN2A | c.2830T>G (p.Ser944Ala) c.2359T>G (p.Ser787Ala) n.2423T>G c.*200T>G (n.*200T>G) c.2419T>G (p.Ser807Ala) n.2469T>G c.2671T>G (p.Ser891Ala) c.2572T>G (p.Ser858Ala) c.2986T>G (p.Ser996Ala) | |
16 | g.9764714A>G | CA394709264 | GRIN2A | c.2830T>C (p.Ser944Pro) c.2359T>C (p.Ser787Pro) n.2423T>C c.*200T>C (n.*200T>C) c.2419T>C (p.Ser807Pro) n.2469T>C c.2671T>C (p.Ser891Pro) c.2572T>C (p.Ser858Pro) c.2986T>C (p.Ser996Pro) | ClinVar dbSNP |
16 | g.9764714A>T | CA394709265 | GRIN2A | c.2830T>A (p.Ser944Thr) c.2359T>A (p.Ser787Thr) n.2423T>A c.*200T>A (n.*200T>A) c.2419T>A (p.Ser807Thr) n.2469T>A c.2671T>A (p.Ser891Thr) c.2572T>A (p.Ser858Thr) c.2986T>A (p.Ser996Thr) | dbSNP |
16 | g.9764715G>A | CA493693294 | GRIN2A | c.2829C>T (p.Tyr943=) c.2358C>T (p.Tyr786=) n.2422C>T c.*199C>T (n.*199C>T) c.2418C>T (p.Tyr806=) n.2468C>T c.2670C>T (p.Tyr890=) c.2571C>T (p.Tyr857=) c.2985C>T (p.Tyr995=) | dbSNP |
16 | g.9764715G>C | CA145314 | GRIN2A | c.2829C>G (p.Tyr943Ter) c.2358C>G (p.Tyr786Ter) n.2422C>G c.*199C>G (n.*199C>G) c.2418C>G (p.Tyr806Ter) n.2468C>G c.2670C>G (p.Tyr890Ter) c.2571C>G (p.Tyr857Ter) c.2985C>G (p.Tyr995Ter) | ClinVar dbSNP |
16 | g.9764715G= | CA2206693372 | GRIN2A | c.2829C= (p.Tyr943=) c.2358C= (p.Tyr786=) n.2422C= c.*199C= (n.*199C=) c.2418C= (p.Tyr806=) n.2468C= c.2670C= (p.Tyr890=) c.2571C= (p.Tyr857=) c.2985C= (p.Tyr995=) | |
16 | g.9764715G>T | CA394709266 | GRIN2A | c.2829C>A (p.Tyr943Ter) c.2358C>A (p.Tyr786Ter) n.2422C>A c.*199C>A (n.*199C>A) c.2418C>A (p.Tyr806Ter) n.2468C>A c.2670C>A (p.Tyr890Ter) c.2571C>A (p.Tyr857Ter) c.2985C>A (p.Tyr995Ter) | dbSNP |
16 | g.9764716T>A | CA394709267 | GRIN2A | c.2828A>T (p.Tyr943Phe) c.2357A>T (p.Tyr786Phe) n.2421A>T c.*198A>T (n.*198A>T) c.2417A>T (p.Tyr806Phe) n.2467A>T c.2669A>T (p.Tyr890Phe) c.2570A>T (p.Tyr857Phe) c.2984A>T (p.Tyr995Phe) | |
16 | g.9764716T>C | CA7896414 | GRIN2A | c.2828A>G (p.Tyr943Cys) c.2357A>G (p.Tyr786Cys) n.2421A>G c.*198A>G (n.*198A>G) c.2417A>G (p.Tyr806Cys) n.2467A>G c.2669A>G (p.Tyr890Cys) c.2570A>G (p.Tyr857Cys) c.2984A>G (p.Tyr995Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.9764716T>G | CA394709268 | GRIN2A | c.2828A>C (p.Tyr943Ser) c.2357A>C (p.Tyr786Ser) n.2421A>C c.*198A>C (n.*198A>C) c.2417A>C (p.Tyr806Ser) n.2467A>C c.2669A>C (p.Tyr890Ser) c.2570A>C (p.Tyr857Ser) c.2984A>C (p.Tyr995Ser) | dbSNP |
16 | g.9764716T= | CA2206693373 | GRIN2A | c.2828A= (p.Tyr943=) c.2357A= (p.Tyr786=) n.2421A= c.*198A= (n.*198A=) c.2417A= (p.Tyr806=) n.2467A= c.2669A= (p.Tyr890=) c.2570A= (p.Tyr857=) c.2984A= (p.Tyr995=) | |
16 | g.9764717A>C | CA394709269 | GRIN2A | c.2827T>G (p.Tyr943Asp) c.2356T>G (p.Tyr786Asp) n.2420T>G c.*197T>G (n.*197T>G) c.2416T>G (p.Tyr806Asp) n.2466T>G c.2668T>G (p.Tyr890Asp) c.2569T>G (p.Tyr857Asp) c.2983T>G (p.Tyr995Asp) | |
16 | g.9764717A>G | CA394709270 | GRIN2A | c.2827T>C (p.Tyr943His) c.2356T>C (p.Tyr786His) n.2420T>C c.*197T>C (n.*197T>C) c.2416T>C (p.Tyr806His) n.2466T>C c.2668T>C (p.Tyr890His) c.2569T>C (p.Tyr857His) c.2983T>C (p.Tyr995His) | |
16 | g.9764717A>T | CA394709271 | GRIN2A | c.2827T>A (p.Tyr943Asn) c.2356T>A (p.Tyr786Asn) n.2420T>A c.*197T>A (n.*197T>A) c.2416T>A (p.Tyr806Asn) n.2466T>A c.2668T>A (p.Tyr890Asn) c.2569T>A (p.Tyr857Asn) c.2983T>A (p.Tyr995Asn) | dbSNP |
16 | g.9764718C>A | CA394709274 | GRIN2A | c.2826G>T (p.Met942Ile) c.2355G>T (p.Met785Ile) n.2419G>T c.*196G>T (n.*196G>T) c.2415G>T (p.Met805Ile) n.2465G>T c.2667G>T (p.Met889Ile) c.2568G>T (p.Met856Ile) c.2982G>T (p.Met994Ile) | dbSNP |
16 | g.9764718C>G | CA394709273 | GRIN2A | c.2826G>C (p.Met942Ile) c.2355G>C (p.Met785Ile) n.2419G>C c.*196G>C (n.*196G>C) c.2415G>C (p.Met805Ile) n.2465G>C c.2667G>C (p.Met889Ile) c.2568G>C (p.Met856Ile) c.2982G>C (p.Met994Ile) | dbSNP |
16 | g.9764718C>T | CA394709272 | GRIN2A | c.2826G>A (p.Met942Ile) c.2355G>A (p.Met785Ile) n.2419G>A c.*196G>A (n.*196G>A) c.2415G>A (p.Met805Ile) n.2465G>A c.2667G>A (p.Met889Ile) c.2568G>A (p.Met856Ile) c.2982G>A (p.Met994Ile) | dbSNP |
16 | g.9764719A= | CA2206693374 | GRIN2A | c.2825T= (p.Met942=) c.2354T= (p.Met785=) n.2418T= c.*195T= (n.*195T=) c.2414T= (p.Met805=) n.2464T= c.2666T= (p.Met889=) c.2567T= (p.Met856=) c.2981T= (p.Met994=) | |
16 | g.9764719A>C | CA394709277 | GRIN2A | c.2825T>G (p.Met942Arg) c.2354T>G (p.Met785Arg) n.2418T>G c.*195T>G (n.*195T>G) c.2414T>G (p.Met805Arg) n.2464T>G c.2666T>G (p.Met889Arg) c.2567T>G (p.Met856Arg) c.2981T>G (p.Met994Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764719A>G | CA394709275 | GRIN2A | c.2825T>C (p.Met942Thr) c.2354T>C (p.Met785Thr) n.2418T>C c.*195T>C (n.*195T>C) c.2414T>C (p.Met805Thr) n.2464T>C c.2666T>C (p.Met889Thr) c.2567T>C (p.Met856Thr) c.2981T>C (p.Met994Thr) | |
16 | g.9764719A>T | CA394709276 | GRIN2A | c.2825T>A (p.Met942Lys) c.2354T>A (p.Met785Lys) n.2418T>A c.*195T>A (n.*195T>A) c.2414T>A (p.Met805Lys) n.2464T>A c.2666T>A (p.Met889Lys) c.2567T>A (p.Met856Lys) c.2981T>A (p.Met994Lys) | dbSNP |
16 | g.9764720T>A | CA394709278 | GRIN2A | c.2824A>T (p.Met942Leu) c.2353A>T (p.Met785Leu) n.2417A>T c.*194A>T (n.*194A>T) c.2413A>T (p.Met805Leu) n.2463A>T c.2665A>T (p.Met889Leu) c.2566A>T (p.Met856Leu) c.2980A>T (p.Met994Leu) | dbSNP |
16 | g.9764720T>C | CA394709279 | GRIN2A | c.2824A>G (p.Met942Val) c.2353A>G (p.Met785Val) n.2417A>G c.*194A>G (n.*194A>G) c.2413A>G (p.Met805Val) n.2463A>G c.2665A>G (p.Met889Val) c.2566A>G (p.Met856Val) c.2980A>G (p.Met994Val) | dbSNP |
16 | g.9764720T>G | CA394709280 | GRIN2A | c.2824A>C (p.Met942Leu) c.2353A>C (p.Met785Leu) n.2417A>C c.*194A>C (n.*194A>C) c.2413A>C (p.Met805Leu) n.2463A>C c.2665A>C (p.Met889Leu) c.2566A>C (p.Met856Leu) c.2980A>C (p.Met994Leu) | |
16 | g.9764721C>A | CA7896415 | GRIN2A | c.2823G>T (p.Leu941Phe) c.2352G>T (p.Leu784Phe) n.2416G>T c.*193G>T (n.*193G>T) c.2412G>T (p.Leu804Phe) n.2462G>T c.2664G>T (p.Leu888Phe) c.2565G>T (p.Leu855Phe) c.2979G>T (p.Leu993Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.9764721C= | CA2206693375 | GRIN2A | c.2823G= (p.Leu941=) c.2352G= (p.Leu784=) n.2416G= c.*193G= (n.*193G=) c.2412G= (p.Leu804=) n.2462G= c.2664G= (p.Leu888=) c.2565G= (p.Leu855=) c.2979G= (p.Leu993=) | |
16 | g.9764721C>G | CA394709281 | GRIN2A | c.2823G>C (p.Leu941Phe) c.2352G>C (p.Leu784Phe) n.2416G>C c.*193G>C (n.*193G>C) c.2412G>C (p.Leu804Phe) n.2462G>C c.2664G>C (p.Leu888Phe) c.2565G>C (p.Leu855Phe) c.2979G>C (p.Leu993Phe) | dbSNP |
16 | g.9764721C>T | CA493693306 | GRIN2A | c.2823G>A (p.Leu941=) c.2352G>A (p.Leu784=) n.2416G>A c.*193G>A (n.*193G>A) c.2412G>A (p.Leu804=) n.2462G>A c.2664G>A (p.Leu888=) c.2565G>A (p.Leu855=) c.2979G>A (p.Leu993=) | dbSNP COSMIC |
16 | g.9764722A= | CA2206693376 | GRIN2A | c.2822T= (p.Leu941=) c.2351T= (p.Leu784=) n.2415T= c.*192T= (n.*192T=) c.2411T= (p.Leu804=) n.2461T= c.2663T= (p.Leu888=) c.2564T= (p.Leu855=) c.2978T= (p.Leu993=) | |
16 | g.9764722A>C | CA394709282 | GRIN2A | c.2822T>G (p.Leu941Trp) c.2351T>G (p.Leu784Trp) n.2415T>G c.*192T>G (n.*192T>G) c.2411T>G (p.Leu804Trp) n.2461T>G c.2663T>G (p.Leu888Trp) c.2564T>G (p.Leu855Trp) c.2978T>G (p.Leu993Trp) | |
16 | g.9764722A>G | CA394709284 | GRIN2A | c.2822T>C (p.Leu941Ser) c.2351T>C (p.Leu784Ser) n.2415T>C c.*192T>C (n.*192T>C) c.2411T>C (p.Leu804Ser) n.2461T>C c.2663T>C (p.Leu888Ser) c.2564T>C (p.Leu855Ser) c.2978T>C (p.Leu993Ser) | |
16 | g.9764722A>T | CA394709283 | GRIN2A | c.2822T>A (p.Leu941Ter) c.2351T>A (p.Leu784Ter) n.2415T>A c.*192T>A (n.*192T>A) c.2411T>A (p.Leu804Ter) n.2461T>A c.2663T>A (p.Leu888Ter) c.2564T>A (p.Leu855Ter) c.2978T>A (p.Leu993Ter) | dbSNP |
16 | g.9764723A= | CA2206693377 | GRIN2A | c.2821T= (p.Leu941=) c.2350T= (p.Leu784=) n.2414T= c.*191T= (n.*191T=) c.2410T= (p.Leu804=) n.2460T= c.2662T= (p.Leu888=) c.2563T= (p.Leu855=) c.2977T= (p.Leu993=) | |
16 | g.9764723A>C | CA394709285 | GRIN2A | c.2821T>G (p.Leu941Val) c.2350T>G (p.Leu784Val) n.2414T>G c.*191T>G (n.*191T>G) c.2410T>G (p.Leu804Val) n.2460T>G c.2662T>G (p.Leu888Val) c.2563T>G (p.Leu855Val) c.2977T>G (p.Leu993Val) | dbSNP gnomAD v4 |
16 | g.9764723A>G | CA493693309 | GRIN2A | c.2821T>C (p.Leu941=) c.2350T>C (p.Leu784=) n.2414T>C c.*191T>C (n.*191T>C) c.2410T>C (p.Leu804=) n.2460T>C c.2662T>C (p.Leu888=) c.2563T>C (p.Leu855=) c.2977T>C (p.Leu993=) | ClinVar dbSNP |
16 | g.9764723A>T | CA394709286 | GRIN2A | c.2821T>A (p.Leu941Met) c.2350T>A (p.Leu784Met) n.2414T>A c.*191T>A (n.*191T>A) c.2410T>A (p.Leu804Met) n.2460T>A c.2662T>A (p.Leu888Met) c.2563T>A (p.Leu855Met) c.2977T>A (p.Leu993Met) | dbSNP |
16 | g.9764724A>C | CA394709287 | GRIN2A | c.2820T>G (p.Asn940Lys) c.2349T>G (p.Asn783Lys) n.2413T>G c.*190T>G (n.*190T>G) c.2409T>G (p.Asn803Lys) n.2459T>G c.2661T>G (p.Asn887Lys) c.2562T>G (p.Asn854Lys) c.2976T>G (p.Asn992Lys) | |
16 | g.9764724A>G | CA493693311 | GRIN2A | c.2820T>C (p.Asn940=) c.2349T>C (p.Asn783=) n.2413T>C c.*190T>C (n.*190T>C) c.2409T>C (p.Asn803=) n.2459T>C c.2661T>C (p.Asn887=) c.2562T>C (p.Asn854=) c.2976T>C (p.Asn992=) | |
16 | g.9764724A>T | CA394709288 | GRIN2A | c.2820T>A (p.Asn940Lys) c.2349T>A (p.Asn783Lys) n.2413T>A c.*190T>A (n.*190T>A) c.2409T>A (p.Asn803Lys) n.2459T>A c.2661T>A (p.Asn887Lys) c.2562T>A (p.Asn854Lys) c.2976T>A (p.Asn992Lys) | dbSNP |
16 | g.9764725T>A | CA394709289 | GRIN2A | c.2819A>T (p.Asn940Ile) c.2348A>T (p.Asn783Ile) n.2412A>T c.*189A>T (n.*189A>T) c.2408A>T (p.Asn803Ile) n.2458A>T c.2660A>T (p.Asn887Ile) c.2561A>T (p.Asn854Ile) c.2975A>T (p.Asn992Ile) | |
16 | g.9764725T>C | CA394709290 | GRIN2A | c.2819A>G (p.Asn940Ser) c.2348A>G (p.Asn783Ser) n.2412A>G c.*189A>G (n.*189A>G) c.2408A>G (p.Asn803Ser) n.2458A>G c.2660A>G (p.Asn887Ser) c.2561A>G (p.Asn854Ser) c.2975A>G (p.Asn992Ser) | dbSNP |
16 | g.9764725T>G | CA7896416 | GRIN2A | c.2819A>C (p.Asn940Thr) c.2348A>C (p.Asn783Thr) n.2412A>C c.*189A>C (n.*189A>C) c.2408A>C (p.Asn803Thr) n.2458A>C c.2660A>C (p.Asn887Thr) c.2561A>C (p.Asn854Thr) c.2975A>C (p.Asn992Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764725T= | CA2206693378 | GRIN2A | c.2819A= (p.Asn940=) c.2348A= (p.Asn783=) n.2412A= c.*189A= (n.*189A=) c.2408A= (p.Asn803=) n.2458A= c.2660A= (p.Asn887=) c.2561A= (p.Asn854=) c.2975A= (p.Asn992=) | |
16 | g.9764726T>A | CA394709291 | GRIN2A | c.2818A>T (p.Asn940Tyr) c.2347A>T (p.Asn783Tyr) n.2411A>T c.*188A>T (n.*188A>T) c.2407A>T (p.Asn803Tyr) n.2457A>T c.2659A>T (p.Asn887Tyr) c.2560A>T (p.Asn854Tyr) c.2974A>T (p.Asn992Tyr) | |
16 | g.9764726T>C | CA394709292 | GRIN2A | c.2818A>G (p.Asn940Asp) c.2347A>G (p.Asn783Asp) n.2411A>G c.*188A>G (n.*188A>G) c.2407A>G (p.Asn803Asp) n.2457A>G c.2659A>G (p.Asn887Asp) c.2560A>G (p.Asn854Asp) c.2974A>G (p.Asn992Asp) | |
16 | g.9764726T>G | CA394709293 | GRIN2A | c.2818A>C (p.Asn940His) c.2347A>C (p.Asn783His) n.2411A>C c.*188A>C (n.*188A>C) c.2407A>C (p.Asn803His) n.2457A>C c.2659A>C (p.Asn887His) c.2560A>C (p.Asn854His) c.2974A>C (p.Asn992His) | |
16 | g.9764727C>A | CA493693317 | GRIN2A | c.2817G>T (p.Gly939=) c.2346G>T (p.Gly782=) n.2410G>T c.*187G>T (n.*187G>T) c.2406G>T (p.Gly802=) n.2456G>T c.2658G>T (p.Gly886=) c.2559G>T (p.Gly853=) c.2973G>T (p.Gly991=) | dbSNP |
16 | g.9764727C>G | CA493693316 | GRIN2A | c.2817G>C (p.Gly939=) c.2346G>C (p.Gly782=) n.2410G>C c.*187G>C (n.*187G>C) c.2406G>C (p.Gly802=) n.2456G>C c.2658G>C (p.Gly886=) c.2559G>C (p.Gly853=) c.2973G>C (p.Gly991=) | dbSNP |
16 | g.9764727C>T | CA493693314 | GRIN2A | c.2817G>A (p.Gly939=) c.2346G>A (p.Gly782=) n.2410G>A c.*187G>A (n.*187G>A) c.2406G>A (p.Gly802=) n.2456G>A c.2658G>A (p.Gly886=) c.2559G>A (p.Gly853=) c.2973G>A (p.Gly991=) | dbSNP |
16 | g.9764728C>A | CA394709294 | GRIN2A | c.2816G>T (p.Gly939Val) c.2345G>T (p.Gly782Val) n.2409G>T c.*186G>T (n.*186G>T) c.2405G>T (p.Gly802Val) n.2455G>T c.2657G>T (p.Gly886Val) c.2558G>T (p.Gly853Val) c.2972G>T (p.Gly991Val) | dbSNP COSMIC |
16 | g.9764728C>G | CA394709295 | GRIN2A | c.2816G>C (p.Gly939Ala) c.2345G>C (p.Gly782Ala) n.2409G>C c.*186G>C (n.*186G>C) c.2405G>C (p.Gly802Ala) n.2455G>C c.2657G>C (p.Gly886Ala) c.2558G>C (p.Gly853Ala) c.2972G>C (p.Gly991Ala) | dbSNP |
16 | g.9764728C>T | CA394709296 | GRIN2A | c.2816G>A (p.Gly939Glu) c.2345G>A (p.Gly782Glu) n.2409G>A c.*186G>A (n.*186G>A) c.2405G>A (p.Gly802Glu) n.2455G>A c.2657G>A (p.Gly886Glu) c.2558G>A (p.Gly853Glu) c.2972G>A (p.Gly991Glu) | ClinVar dbSNP |
16 | g.9764729C>A | CA394709297 | GRIN2A | c.2815G>T (p.Gly939Trp) c.2344G>T (p.Gly782Trp) n.2408G>T c.*185G>T (n.*185G>T) c.2404G>T (p.Gly802Trp) n.2454G>T c.2656G>T (p.Gly886Trp) c.2557G>T (p.Gly853Trp) c.2971G>T (p.Gly991Trp) | gnomAD v4 |
16 | g.9764729C= | CA2206693379 | GRIN2A | c.2815G= (p.Gly939=) c.2344G= (p.Gly782=) n.2408G= c.*185G= (n.*185G=) c.2404G= (p.Gly802=) n.2454G= c.2656G= (p.Gly886=) c.2557G= (p.Gly853=) c.2971G= (p.Gly991=) | |
16 | g.9764729C>G | CA394709298 | GRIN2A | c.2815G>C (p.Gly939Arg) c.2344G>C (p.Gly782Arg) n.2408G>C c.*185G>C (n.*185G>C) c.2404G>C (p.Gly802Arg) n.2454G>C c.2656G>C (p.Gly886Arg) c.2557G>C (p.Gly853Arg) c.2971G>C (p.Gly991Arg) | |
16 | g.9764729C>T | CA394709299 | GRIN2A | c.2815G>A (p.Gly939Arg) c.2344G>A (p.Gly782Arg) n.2408G>A c.*185G>A (n.*185G>A) c.2404G>A (p.Gly802Arg) n.2454G>A c.2656G>A (p.Gly886Arg) c.2557G>A (p.Gly853Arg) c.2971G>A (p.Gly991Arg) | dbSNP |
16 | g.9764730C>A | CA394709300 | GRIN2A | c.2814G>T (p.Lys938Asn) c.2343G>T (p.Lys781Asn) n.2407G>T c.*184G>T (n.*184G>T) c.2403G>T (p.Lys801Asn) n.2453G>T c.2655G>T (p.Lys885Asn) c.2556G>T (p.Lys852Asn) c.2970G>T (p.Lys990Asn) | |
16 | g.9764730C>G | CA394709301 | GRIN2A | c.2814G>C (p.Lys938Asn) c.2343G>C (p.Lys781Asn) n.2407G>C c.*184G>C (n.*184G>C) c.2403G>C (p.Lys801Asn) n.2453G>C c.2655G>C (p.Lys885Asn) c.2556G>C (p.Lys852Asn) c.2970G>C (p.Lys990Asn) | gnomAD v4 |
16 | g.9764730C>T | CA493693318 | GRIN2A | c.2814G>A (p.Lys938=) c.2343G>A (p.Lys781=) n.2407G>A c.*184G>A (n.*184G>A) c.2403G>A (p.Lys801=) n.2453G>A c.2655G>A (p.Lys885=) c.2556G>A (p.Lys852=) c.2970G>A (p.Lys990=) | COSMIC |
16 | g.9764731T>A | CA394709303 | GRIN2A | c.2813A>T (p.Lys938Met) c.2342A>T (p.Lys781Met) n.2406A>T c.*183A>T (n.*183A>T) c.2402A>T (p.Lys801Met) n.2452A>T c.2654A>T (p.Lys885Met) c.2555A>T (p.Lys852Met) c.2969A>T (p.Lys990Met) | dbSNP |
16 | g.9764731T>C | CA394709304 | GRIN2A | c.2813A>G (p.Lys938Arg) c.2342A>G (p.Lys781Arg) n.2406A>G c.*183A>G (n.*183A>G) c.2402A>G (p.Lys801Arg) n.2452A>G c.2654A>G (p.Lys885Arg) c.2555A>G (p.Lys852Arg) c.2969A>G (p.Lys990Arg) | dbSNP |
16 | g.9764731T>G | CA394709302 | GRIN2A | c.2813A>C (p.Lys938Thr) c.2342A>C (p.Lys781Thr) n.2406A>C c.*183A>C (n.*183A>C) c.2402A>C (p.Lys801Thr) n.2452A>C c.2654A>C (p.Lys885Thr) c.2555A>C (p.Lys852Thr) c.2969A>C (p.Lys990Thr) | dbSNP |
16 | g.9764731T= | CA2206693380 | GRIN2A | c.2813A= (p.Lys938=) c.2342A= (p.Lys781=) n.2406A= c.*183A= (n.*183A=) c.2402A= (p.Lys801=) n.2452A= c.2654A= (p.Lys885=) c.2555A= (p.Lys852=) c.2969A= (p.Lys990=) | |
16 | g.9764732T>A | CA394709305 | GRIN2A | c.2812A>T (p.Lys938Ter) c.2341A>T (p.Lys781Ter) n.2405A>T c.*182A>T (n.*182A>T) c.2401A>T (p.Lys801Ter) n.2451A>T c.2653A>T (p.Lys885Ter) c.2554A>T (p.Lys852Ter) c.2968A>T (p.Lys990Ter) | dbSNP |
16 | g.9764732T>C | CA394709306 | GRIN2A | c.2812A>G (p.Lys938Glu) c.2341A>G (p.Lys781Glu) n.2405A>G c.*182A>G (n.*182A>G) c.2401A>G (p.Lys801Glu) n.2451A>G c.2653A>G (p.Lys885Glu) c.2554A>G (p.Lys852Glu) c.2968A>G (p.Lys990Glu) | |
16 | g.9764732T>G | CA394709307 | GRIN2A | c.2812A>C (p.Lys938Gln) c.2341A>C (p.Lys781Gln) n.2405A>C c.*182A>C (n.*182A>C) c.2401A>C (p.Lys801Gln) n.2451A>C c.2653A>C (p.Lys885Gln) c.2554A>C (p.Lys852Gln) c.2968A>C (p.Lys990Gln) | |
16 | g.9764732T= | CA2206693381 | GRIN2A | c.2812A= (p.Lys938=) c.2341A= (p.Lys781=) n.2405A= c.*182A= (n.*182A=) c.2401A= (p.Lys801=) n.2451A= c.2653A= (p.Lys885=) c.2554A= (p.Lys852=) c.2968A= (p.Lys990=) | |
16 | g.9764733A= | CA2206693382 | GRIN2A | c.2811T= (p.Asp937=) c.2340T= (p.Asp780=) n.2404T= c.*181T= (n.*181T=) c.2400T= (p.Asp800=) n.2450T= c.2652T= (p.Asp884=) c.2553T= (p.Asp851=) c.2967T= (p.Asp989=) | |
16 | g.9764733A>C | CA394709308 | GRIN2A | c.2811T>G (p.Asp937Glu) c.2340T>G (p.Asp780Glu) n.2404T>G c.*181T>G (n.*181T>G) c.2400T>G (p.Asp800Glu) n.2450T>G c.2652T>G (p.Asp884Glu) c.2553T>G (p.Asp851Glu) c.2967T>G (p.Asp989Glu) | |
16 | g.9764733A>G | CA493693446 | GRIN2A | c.2811T>C (p.Asp937=) c.2340T>C (p.Asp780=) n.2404T>C c.*181T>C (n.*181T>C) c.2400T>C (p.Asp800=) n.2450T>C c.2652T>C (p.Asp884=) c.2553T>C (p.Asp851=) c.2967T>C (p.Asp989=) | dbSNP |
16 | g.9764733A>T | CA7896417 | GRIN2A | c.2811T>A (p.Asp937Glu) c.2340T>A (p.Asp780Glu) n.2404T>A c.*181T>A (n.*181T>A) c.2400T>A (p.Asp800Glu) n.2450T>A c.2652T>A (p.Asp884Glu) c.2553T>A (p.Asp851Glu) c.2967T>A (p.Asp989Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764734T>A | CA394709309 | GRIN2A | c.2810A>T (p.Asp937Val) c.2339A>T (p.Asp780Val) n.2403A>T c.*180A>T (n.*180A>T) c.2399A>T (p.Asp800Val) n.2449A>T c.2651A>T (p.Asp884Val) c.2552A>T (p.Asp851Val) c.2966A>T (p.Asp989Val) | gnomAD v4 |
16 | g.9764734T>C | CA394709310 | GRIN2A | c.2810A>G (p.Asp937Gly) c.2339A>G (p.Asp780Gly) n.2403A>G c.*180A>G (n.*180A>G) c.2399A>G (p.Asp800Gly) n.2449A>G c.2651A>G (p.Asp884Gly) c.2552A>G (p.Asp851Gly) c.2966A>G (p.Asp989Gly) | dbSNP |
16 | g.9764734T>G | CA394709311 | GRIN2A | c.2810A>C (p.Asp937Ala) c.2339A>C (p.Asp780Ala) n.2403A>C c.*180A>C (n.*180A>C) c.2399A>C (p.Asp800Ala) n.2449A>C c.2651A>C (p.Asp884Ala) c.2552A>C (p.Asp851Ala) c.2966A>C (p.Asp989Ala) | |
16 | g.9764734T= | CA2206693383 | GRIN2A | c.2810A= (p.Asp937=) c.2339A= (p.Asp780=) n.2403A= c.*180A= (n.*180A=) c.2399A= (p.Asp800=) n.2449A= c.2651A= (p.Asp884=) c.2552A= (p.Asp851=) c.2966A= (p.Asp989=) | |
16 | g.9764735C>A | CA394709312 | GRIN2A | c.2809G>T (p.Asp937Tyr) c.2338G>T (p.Asp780Tyr) n.2402G>T c.*179G>T (n.*179G>T) c.2398G>T (p.Asp800Tyr) n.2448G>T c.2650G>T (p.Asp884Tyr) c.2551G>T (p.Asp851Tyr) c.2965G>T (p.Asp989Tyr) | dbSNP |
16 | g.9764735C= | CA2206693384 | GRIN2A | c.2809G= (p.Asp937=) c.2338G= (p.Asp780=) n.2402G= c.*179G= (n.*179G=) c.2398G= (p.Asp800=) n.2448G= c.2650G= (p.Asp884=) c.2551G= (p.Asp851=) c.2965G= (p.Asp989=) | |
16 | g.9764735C>G | CA394709313 | GRIN2A | c.2809G>C (p.Asp937His) c.2338G>C (p.Asp780His) n.2402G>C c.*179G>C (n.*179G>C) c.2398G>C (p.Asp800His) n.2448G>C c.2650G>C (p.Asp884His) c.2551G>C (p.Asp851His) c.2965G>C (p.Asp989His) | dbSNP gnomAD v4 |
16 | g.9764735C>T | CA7896418 | GRIN2A | c.2809G>A (p.Asp937Asn) c.2338G>A (p.Asp780Asn) n.2402G>A c.*179G>A (n.*179G>A) c.2398G>A (p.Asp800Asn) n.2448G>A c.2650G>A (p.Asp884Asn) c.2551G>A (p.Asp851Asn) c.2965G>A (p.Asp989Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764736T>A | CA493693451 | GRIN2A | c.2808A>T (p.Ser936=) c.2337A>T (p.Ser779=) n.2401A>T c.*178A>T (n.*178A>T) c.2397A>T (p.Ser799=) n.2447A>T c.2649A>T (p.Ser883=) c.2550A>T (p.Ser850=) c.2964A>T (p.Ser988=) | dbSNP |
16 | g.9764736T>C | CA7896419 | GRIN2A | c.2808A>G (p.Ser936=) c.2337A>G (p.Ser779=) n.2401A>G c.*178A>G (n.*178A>G) c.2397A>G (p.Ser799=) n.2447A>G c.2649A>G (p.Ser883=) c.2550A>G (p.Ser850=) c.2964A>G (p.Ser988=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764736T>G | CA493693452 | GRIN2A | c.2808A>C (p.Ser936=) c.2337A>C (p.Ser779=) n.2401A>C c.*178A>C (n.*178A>C) c.2397A>C (p.Ser799=) n.2447A>C c.2649A>C (p.Ser883=) c.2550A>C (p.Ser850=) c.2964A>C (p.Ser988=) | |
16 | g.9764736T= | CA2206693385 | GRIN2A | c.2808A= (p.Ser936=) c.2337A= (p.Ser779=) n.2401A= c.*178A= (n.*178A=) c.2397A= (p.Ser799=) n.2447A= c.2649A= (p.Ser883=) c.2550A= (p.Ser850=) c.2964A= (p.Ser988=) | |
16 | g.9764737G>A | CA394709314 | GRIN2A | c.2807C>T (p.Ser936Leu) c.2336C>T (p.Ser779Leu) n.2400C>T c.*177C>T (n.*177C>T) c.2396C>T (p.Ser799Leu) n.2446C>T c.2648C>T (p.Ser883Leu) c.2549C>T (p.Ser850Leu) c.2963C>T (p.Ser988Leu) | dbSNP |
16 | g.9764737G>C | CA394709315 | GRIN2A | c.2807C>G (p.Ser936Ter) c.2336C>G (p.Ser779Ter) n.2400C>G c.*177C>G (n.*177C>G) c.2396C>G (p.Ser799Ter) n.2446C>G c.2648C>G (p.Ser883Ter) c.2549C>G (p.Ser850Ter) c.2963C>G (p.Ser988Ter) | dbSNP |
16 | g.9764737G>T | CA394709316 | GRIN2A | c.2807C>A (p.Ser936Ter) c.2336C>A (p.Ser779Ter) n.2400C>A c.*177C>A (n.*177C>A) c.2396C>A (p.Ser799Ter) n.2446C>A c.2648C>A (p.Ser883Ter) c.2549C>A (p.Ser850Ter) c.2963C>A (p.Ser988Ter) | |
16 | g.9764738A>C | CA394709319 | GRIN2A | c.2806T>G (p.Ser936Ala) c.2335T>G (p.Ser779Ala) n.2399T>G c.*176T>G (n.*176T>G) c.2395T>G (p.Ser799Ala) n.2445T>G c.2647T>G (p.Ser883Ala) c.2548T>G (p.Ser850Ala) c.2962T>G (p.Ser988Ala) | |
16 | g.9764738A>G | CA394709317 | GRIN2A | c.2806T>C (p.Ser936Pro) c.2335T>C (p.Ser779Pro) n.2399T>C c.*176T>C (n.*176T>C) c.2395T>C (p.Ser799Pro) n.2445T>C c.2647T>C (p.Ser883Pro) c.2548T>C (p.Ser850Pro) c.2962T>C (p.Ser988Pro) | |
16 | g.9764738A>T | CA394709318 | GRIN2A | c.2806T>A (p.Ser936Thr) c.2335T>A (p.Ser779Thr) n.2399T>A c.*176T>A (n.*176T>A) c.2395T>A (p.Ser799Thr) n.2445T>A c.2647T>A (p.Ser883Thr) c.2548T>A (p.Ser850Thr) c.2962T>A (p.Ser988Thr) | dbSNP |
16 | g.9764739A= | CA2206693386 | GRIN2A | c.2805T= (p.Val935=) c.2334T= (p.Val778=) n.2398T= c.*175T= (n.*175T=) c.2394T= (p.Val798=) n.2444T= c.2646T= (p.Val882=) c.2547T= (p.Val849=) c.2961T= (p.Val987=) | |
16 | g.9764739A>C | CA7896420 | GRIN2A | c.2805T>G (p.Val935=) c.2334T>G (p.Val778=) n.2398T>G c.*175T>G (n.*175T>G) c.2394T>G (p.Val798=) n.2444T>G c.2646T>G (p.Val882=) c.2547T>G (p.Val849=) c.2961T>G (p.Val987=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764739A>G | CA493693457 | GRIN2A | c.2805T>C (p.Val935=) c.2334T>C (p.Val778=) n.2398T>C c.*175T>C (n.*175T>C) c.2394T>C (p.Val798=) n.2444T>C c.2646T>C (p.Val882=) c.2547T>C (p.Val849=) c.2961T>C (p.Val987=) | |
16 | g.9764739A>T | CA493693458 | GRIN2A | c.2805T>A (p.Val935=) c.2334T>A (p.Val778=) n.2398T>A c.*175T>A (n.*175T>A) c.2394T>A (p.Val798=) n.2444T>A c.2646T>A (p.Val882=) c.2547T>A (p.Val849=) c.2961T>A (p.Val987=) | |
16 | g.9764740A= | CA2206693387 | GRIN2A | c.2804T= (p.Val935=) c.2333T= (p.Val778=) n.2397T= c.*174T= (n.*174T=) c.2393T= (p.Val798=) n.2443T= c.2645T= (p.Val882=) c.2546T= (p.Val849=) c.2960T= (p.Val987=) | |
16 | g.9764740A>C | CA394709320 | GRIN2A | c.2804T>G (p.Val935Gly) c.2333T>G (p.Val778Gly) n.2397T>G c.*174T>G (n.*174T>G) c.2393T>G (p.Val798Gly) n.2443T>G c.2645T>G (p.Val882Gly) c.2546T>G (p.Val849Gly) c.2960T>G (p.Val987Gly) | |
16 | g.9764740A>G | CA277538500 | GRIN2A | c.2804T>C (p.Val935Ala) c.2333T>C (p.Val778Ala) n.2397T>C c.*174T>C (n.*174T>C) c.2393T>C (p.Val798Ala) n.2443T>C c.2645T>C (p.Val882Ala) c.2546T>C (p.Val849Ala) c.2960T>C (p.Val987Ala) | dbSNP gnomAD v4 |
16 | g.9764740A>T | CA394709321 | GRIN2A | c.2804T>A (p.Val935Asp) c.2333T>A (p.Val778Asp) n.2397T>A c.*174T>A (n.*174T>A) c.2393T>A (p.Val798Asp) n.2443T>A c.2645T>A (p.Val882Asp) c.2546T>A (p.Val849Asp) c.2960T>A (p.Val987Asp) | |
16 | g.9764741C>A | CA394709322 | GRIN2A | c.2803G>T (p.Val935Phe) c.2332G>T (p.Val778Phe) n.2396G>T c.*173G>T (n.*173G>T) c.2392G>T (p.Val798Phe) n.2442G>T c.2644G>T (p.Val882Phe) c.2545G>T (p.Val849Phe) c.2959G>T (p.Val987Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764741C= | CA2206693388 | GRIN2A | c.2803G= (p.Val935=) c.2332G= (p.Val778=) n.2396G= c.*173G= (n.*173G=) c.2392G= (p.Val798=) n.2442G= c.2644G= (p.Val882=) c.2545G= (p.Val849=) c.2959G= (p.Val987=) | |
16 | g.9764741C>G | CA394709323 | GRIN2A | c.2803G>C (p.Val935Leu) c.2332G>C (p.Val778Leu) n.2396G>C c.*173G>C (n.*173G>C) c.2392G>C (p.Val798Leu) n.2442G>C c.2644G>C (p.Val882Leu) c.2545G>C (p.Val849Leu) c.2959G>C (p.Val987Leu) | dbSNP |
16 | g.9764741C>T | CA394709324 | GRIN2A | c.2803G>A (p.Val935Ile) c.2332G>A (p.Val778Ile) n.2396G>A c.*173G>A (n.*173G>A) c.2392G>A (p.Val798Ile) n.2442G>A c.2644G>A (p.Val882Ile) c.2545G>A (p.Val849Ile) c.2959G>A (p.Val987Ile) | dbSNP gnomAD v4 |
16 | g.9764742C>A | CA394709325 | GRIN2A | c.2802G>T (p.Met934Ile) c.2331G>T (p.Met777Ile) n.2395G>T c.*172G>T (n.*172G>T) c.2391G>T (p.Met797Ile) n.2441G>T c.2643G>T (p.Met881Ile) c.2544G>T (p.Met848Ile) c.2958G>T (p.Met986Ile) | dbSNP |
16 | g.9764742C>G | CA394709326 | GRIN2A | c.2802G>C (p.Met934Ile) c.2331G>C (p.Met777Ile) n.2395G>C c.*172G>C (n.*172G>C) c.2391G>C (p.Met797Ile) n.2441G>C c.2643G>C (p.Met881Ile) c.2544G>C (p.Met848Ile) c.2958G>C (p.Met986Ile) | dbSNP |
16 | g.9764742C>T | CA394709327 | GRIN2A | c.2802G>A (p.Met934Ile) c.2331G>A (p.Met777Ile) n.2395G>A c.*172G>A (n.*172G>A) c.2391G>A (p.Met797Ile) n.2441G>A c.2643G>A (p.Met881Ile) c.2544G>A (p.Met848Ile) c.2958G>A (p.Met986Ile) | ClinVar dbSNP |
16 | g.9764743A= | CA2206693389 | GRIN2A | c.2801T= (p.Met934=) c.2330T= (p.Met777=) n.2394T= c.*171T= (n.*171T=) c.2390T= (p.Met797=) n.2440T= c.2642T= (p.Met881=) c.2543T= (p.Met848=) c.2957T= (p.Met986=) | |
16 | g.9764743A>C | CA394709328 | GRIN2A | c.2801T>G (p.Met934Arg) c.2330T>G (p.Met777Arg) n.2394T>G c.*171T>G (n.*171T>G) c.2390T>G (p.Met797Arg) n.2440T>G c.2642T>G (p.Met881Arg) c.2543T>G (p.Met848Arg) c.2957T>G (p.Met986Arg) | |
16 | g.9764743A>G | CA314960 | GRIN2A | c.2801T>C (p.Met934Thr) c.2330T>C (p.Met777Thr) n.2394T>C c.*171T>C (n.*171T>C) c.2390T>C (p.Met797Thr) n.2440T>C c.2642T>C (p.Met881Thr) c.2543T>C (p.Met848Thr) c.2957T>C (p.Met986Thr) | ClinVar dbSNP |
16 | g.9764743A>T | CA277538505 | GRIN2A | c.2801T>A (p.Met934Lys) c.2330T>A (p.Met777Lys) n.2394T>A c.*171T>A (n.*171T>A) c.2390T>A (p.Met797Lys) n.2440T>A c.2642T>A (p.Met881Lys) c.2543T>A (p.Met848Lys) c.2957T>A (p.Met986Lys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764744T>A | CA394709329 | GRIN2A | c.2800A>T (p.Met934Leu) c.2329A>T (p.Met777Leu) n.2393A>T c.*170A>T (n.*170A>T) c.2389A>T (p.Met797Leu) n.2439A>T c.2641A>T (p.Met881Leu) c.2542A>T (p.Met848Leu) c.2956A>T (p.Met986Leu) | dbSNP |
16 | g.9764744T>C | CA394709331 | GRIN2A | c.2800A>G (p.Met934Val) c.2329A>G (p.Met777Val) n.2393A>G c.*170A>G (n.*170A>G) c.2389A>G (p.Met797Val) n.2439A>G c.2641A>G (p.Met881Val) c.2542A>G (p.Met848Val) c.2956A>G (p.Met986Val) | |
16 | g.9764744T>G | CA394709330 | GRIN2A | c.2800A>C (p.Met934Leu) c.2329A>C (p.Met777Leu) n.2393A>C c.*170A>C (n.*170A>C) c.2389A>C (p.Met797Leu) n.2439A>C c.2641A>C (p.Met881Leu) c.2542A>C (p.Met848Leu) c.2956A>C (p.Met986Leu) | |
16 | g.9764745G>A | CA493693461 | GRIN2A | c.2799C>T (p.Asp933=) c.2328C>T (p.Asp776=) n.2392C>T c.*169C>T (n.*169C>T) c.2388C>T (p.Asp796=) n.2438C>T c.2640C>T (p.Asp880=) c.2541C>T (p.Asp847=) c.2955C>T (p.Asp985=) | dbSNP |
16 | g.9764745G>C | CA394709332 | GRIN2A | c.2799C>G (p.Asp933Glu) c.2328C>G (p.Asp776Glu) n.2392C>G c.*169C>G (n.*169C>G) c.2388C>G (p.Asp796Glu) n.2438C>G c.2640C>G (p.Asp880Glu) c.2541C>G (p.Asp847Glu) c.2955C>G (p.Asp985Glu) | dbSNP |
16 | g.9764745G>T | CA394709333 | GRIN2A | c.2799C>A (p.Asp933Glu) c.2328C>A (p.Asp776Glu) n.2392C>A c.*169C>A (n.*169C>A) c.2388C>A (p.Asp796Glu) n.2438C>A c.2640C>A (p.Asp880Glu) c.2541C>A (p.Asp847Glu) c.2955C>A (p.Asp985Glu) | |
16 | g.9764746T>A | CA394709334 | GRIN2A | c.2798A>T (p.Asp933Val) c.2327A>T (p.Asp776Val) n.2391A>T c.*168A>T (n.*168A>T) c.2387A>T (p.Asp796Val) n.2437A>T c.2639A>T (p.Asp880Val) c.2540A>T (p.Asp847Val) c.2954A>T (p.Asp985Val) | |
16 | g.9764746T>C | CA394709335 | GRIN2A | c.2798A>G (p.Asp933Gly) c.2327A>G (p.Asp776Gly) n.2391A>G c.*168A>G (n.*168A>G) c.2387A>G (p.Asp796Gly) n.2437A>G c.2639A>G (p.Asp880Gly) c.2540A>G (p.Asp847Gly) c.2954A>G (p.Asp985Gly) | dbSNP gnomAD v4 |
16 | g.9764746T>G | CA394709336 | GRIN2A | c.2798A>C (p.Asp933Ala) c.2327A>C (p.Asp776Ala) n.2391A>C c.*168A>C (n.*168A>C) c.2387A>C (p.Asp796Ala) n.2437A>C c.2639A>C (p.Asp880Ala) c.2540A>C (p.Asp847Ala) c.2954A>C (p.Asp985Ala) | |
16 | g.9764746T= | CA2206693390 | GRIN2A | c.2798A= (p.Asp933=) c.2327A= (p.Asp776=) n.2391A= c.*168A= (n.*168A=) c.2387A= (p.Asp796=) n.2437A= c.2639A= (p.Asp880=) c.2540A= (p.Asp847=) c.2954A= (p.Asp985=) |