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.9764772G>A | CA493693497 | GRIN2A | c.2772C>T (p.Phe924=) c.2301C>T (p.Phe767=) n.2365C>T c.*142C>T (n.*142C>T) c.2361C>T (p.Phe787=) n.2411C>T c.2613C>T (p.Phe871=) c.2514C>T (p.Phe838=) c.2928C>T (p.Phe976=) | dbSNP COSMIC |
16 | g.9764772G>C | CA394709388 | GRIN2A | c.2772C>G (p.Phe924Leu) c.2301C>G (p.Phe767Leu) n.2365C>G c.*142C>G (n.*142C>G) c.2361C>G (p.Phe787Leu) n.2411C>G c.2613C>G (p.Phe871Leu) c.2514C>G (p.Phe838Leu) c.2928C>G (p.Phe976Leu) | dbSNP |
16 | g.9764772G>T | CA394709389 | GRIN2A | c.2772C>A (p.Phe924Leu) c.2301C>A (p.Phe767Leu) n.2365C>A c.*142C>A (n.*142C>A) c.2361C>A (p.Phe787Leu) n.2411C>A c.2613C>A (p.Phe871Leu) c.2514C>A (p.Phe838Leu) c.2928C>A (p.Phe976Leu) | dbSNP |
16 | g.9764773A= | CA2206693407 | GRIN2A | c.2771T= (p.Phe924=) c.2300T= (p.Phe767=) n.2364T= c.*141T= (n.*141T=) c.2360T= (p.Phe787=) n.2410T= c.2612T= (p.Phe871=) c.2513T= (p.Phe838=) c.2927T= (p.Phe976=) | |
16 | g.9764773A>C | CA394709390 | GRIN2A | c.2771T>G (p.Phe924Cys) c.2300T>G (p.Phe767Cys) n.2364T>G c.*141T>G (n.*141T>G) c.2360T>G (p.Phe787Cys) n.2410T>G c.2612T>G (p.Phe871Cys) c.2513T>G (p.Phe838Cys) c.2927T>G (p.Phe976Cys) | |
16 | g.9764773A>G | CA394709391 | GRIN2A | c.2771T>C (p.Phe924Ser) c.2300T>C (p.Phe767Ser) n.2364T>C c.*141T>C (n.*141T>C) c.2360T>C (p.Phe787Ser) n.2410T>C c.2612T>C (p.Phe871Ser) c.2513T>C (p.Phe838Ser) c.2927T>C (p.Phe976Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764773A>T | CA394709392 | GRIN2A | c.2771T>A (p.Phe924Tyr) c.2300T>A (p.Phe767Tyr) n.2364T>A c.*141T>A (n.*141T>A) c.2360T>A (p.Phe787Tyr) n.2410T>A c.2612T>A (p.Phe871Tyr) c.2513T>A (p.Phe838Tyr) c.2927T>A (p.Phe976Tyr) | |
16 | g.9764774A= | CA2206693408 | GRIN2A | c.2770T= (p.Phe924=) c.2299T= (p.Phe767=) n.2363T= c.*140T= (n.*140T=) c.2359T= (p.Phe787=) n.2409T= c.2611T= (p.Phe871=) c.2512T= (p.Phe838=) c.2926T= (p.Phe976=) | |
16 | g.9764774A>C | CA394709393 | GRIN2A | c.2770T>G (p.Phe924Val) c.2299T>G (p.Phe767Val) n.2363T>G c.*140T>G (n.*140T>G) c.2359T>G (p.Phe787Val) n.2409T>G c.2611T>G (p.Phe871Val) c.2512T>G (p.Phe838Val) c.2926T>G (p.Phe976Val) | dbSNP |
16 | g.9764774A>G | CA394709394 | GRIN2A | c.2770T>C (p.Phe924Leu) c.2299T>C (p.Phe767Leu) n.2363T>C c.*140T>C (n.*140T>C) c.2359T>C (p.Phe787Leu) n.2409T>C c.2611T>C (p.Phe871Leu) c.2512T>C (p.Phe838Leu) c.2926T>C (p.Phe976Leu) | |
16 | g.9764774A>T | CA394709395 | GRIN2A | c.2770T>A (p.Phe924Ile) c.2299T>A (p.Phe767Ile) n.2363T>A c.*140T>A (n.*140T>A) c.2359T>A (p.Phe787Ile) n.2409T>A c.2611T>A (p.Phe871Ile) c.2512T>A (p.Phe838Ile) c.2926T>A (p.Phe976Ile) | dbSNP |
16 | g.9764775G>A | CA493693499 | GRIN2A | c.2769C>T (p.Asp923=) c.2298C>T (p.Asp766=) n.2362C>T c.*139C>T (n.*139C>T) c.2358C>T (p.Asp786=) n.2408C>T c.2610C>T (p.Asp870=) c.2511C>T (p.Asp837=) c.2925C>T (p.Asp975=) | gnomAD v4 |
16 | g.9764775G>C | CA394709396 | GRIN2A | c.2769C>G (p.Asp923Glu) c.2298C>G (p.Asp766Glu) n.2362C>G c.*139C>G (n.*139C>G) c.2358C>G (p.Asp786Glu) n.2408C>G c.2610C>G (p.Asp870Glu) c.2511C>G (p.Asp837Glu) c.2925C>G (p.Asp975Glu) | ClinVar dbSNP |
16 | g.9764775G= | CA2206693409 | GRIN2A | c.2769C= (p.Asp923=) c.2298C= (p.Asp766=) n.2362C= c.*139C= (n.*139C=) c.2358C= (p.Asp786=) n.2408C= c.2610C= (p.Asp870=) c.2511C= (p.Asp837=) c.2925C= (p.Asp975=) | |
16 | g.9764775G>T | CA394709397 | GRIN2A | c.2769C>A (p.Asp923Glu) c.2298C>A (p.Asp766Glu) n.2362C>A c.*139C>A (n.*139C>A) c.2358C>A (p.Asp786Glu) n.2408C>A c.2610C>A (p.Asp870Glu) c.2511C>A (p.Asp837Glu) c.2925C>A (p.Asp975Glu) | dbSNP |
16 | g.9764776T>A | CA394709398 | GRIN2A | c.2768A>T (p.Asp923Val) c.2297A>T (p.Asp766Val) n.2361A>T c.*138A>T (n.*138A>T) c.2357A>T (p.Asp786Val) n.2407A>T c.2609A>T (p.Asp870Val) c.2510A>T (p.Asp837Val) c.2924A>T (p.Asp975Val) | |
16 | g.9764776T>C | CA394709400 | GRIN2A | c.2768A>G (p.Asp923Gly) c.2297A>G (p.Asp766Gly) n.2361A>G c.*138A>G (n.*138A>G) c.2357A>G (p.Asp786Gly) n.2407A>G c.2609A>G (p.Asp870Gly) c.2510A>G (p.Asp837Gly) c.2924A>G (p.Asp975Gly) | |
16 | g.9764776T>G | CA394709399 | GRIN2A | c.2768A>C (p.Asp923Ala) c.2297A>C (p.Asp766Ala) n.2361A>C c.*138A>C (n.*138A>C) c.2357A>C (p.Asp786Ala) n.2407A>C c.2609A>C (p.Asp870Ala) c.2510A>C (p.Asp837Ala) c.2924A>C (p.Asp975Ala) | |
16 | g.9764777C>A | CA394709401 | GRIN2A | c.2767G>T (p.Asp923Tyr) c.2296G>T (p.Asp766Tyr) n.2360G>T c.*137G>T (n.*137G>T) c.2356G>T (p.Asp786Tyr) n.2406G>T c.2608G>T (p.Asp870Tyr) c.2509G>T (p.Asp837Tyr) c.2923G>T (p.Asp975Tyr) | dbSNP |
16 | g.9764777C>G | CA394709402 | GRIN2A | c.2767G>C (p.Asp923His) c.2296G>C (p.Asp766His) n.2360G>C c.*137G>C (n.*137G>C) c.2356G>C (p.Asp786His) n.2406G>C c.2608G>C (p.Asp870His) c.2509G>C (p.Asp837His) c.2923G>C (p.Asp975His) | dbSNP |
16 | g.9764777C>T | CA394709403 | GRIN2A | c.2767G>A (p.Asp923Asn) c.2296G>A (p.Asp766Asn) n.2360G>A c.*137G>A (n.*137G>A) c.2356G>A (p.Asp786Asn) n.2406G>A c.2608G>A (p.Asp870Asn) c.2509G>A (p.Asp837Asn) c.2923G>A (p.Asp975Asn) | dbSNP |
16 | g.9764778A= | CA2206693410 | GRIN2A | c.2766T= (p.Ala922=) c.2295T= (p.Ala765=) n.2359T= c.*136T= (n.*136T=) c.2355T= (p.Ala785=) n.2405T= c.2607T= (p.Ala869=) c.2508T= (p.Ala836=) c.2922T= (p.Ala974=) | |
16 | g.9764778A>C | CA493693501 | GRIN2A | c.2766T>G (p.Ala922=) c.2295T>G (p.Ala765=) n.2359T>G c.*136T>G (n.*136T>G) c.2355T>G (p.Ala785=) n.2405T>G c.2607T>G (p.Ala869=) c.2508T>G (p.Ala836=) c.2922T>G (p.Ala974=) | |
16 | g.9764778A>G | CA277538620 | GRIN2A | c.2766T>C (p.Ala922=) c.2295T>C (p.Ala765=) n.2359T>C c.*136T>C (n.*136T>C) c.2355T>C (p.Ala785=) n.2405T>C c.2607T>C (p.Ala869=) c.2508T>C (p.Ala836=) c.2922T>C (p.Ala974=) | dbSNP gnomAD v4 |
16 | g.9764778A>T | CA493693502 | GRIN2A | c.2766T>A (p.Ala922=) c.2295T>A (p.Ala765=) n.2359T>A c.*136T>A (n.*136T>A) c.2355T>A (p.Ala785=) n.2405T>A c.2607T>A (p.Ala869=) c.2508T>A (p.Ala836=) c.2922T>A (p.Ala974=) | dbSNP |
16 | g.9764779G>A | CA314956 | GRIN2A | c.2765C>T (p.Ala922Val) c.2294C>T (p.Ala765Val) n.2358C>T c.*135C>T (n.*135C>T) c.2354C>T (p.Ala785Val) n.2404C>T c.2606C>T (p.Ala869Val) c.2507C>T (p.Ala836Val) c.2921C>T (p.Ala974Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764779G>C | CA7896426 | GRIN2A | c.2765C>G (p.Ala922Gly) c.2294C>G (p.Ala765Gly) n.2358C>G c.*135C>G (n.*135C>G) c.2354C>G (p.Ala785Gly) n.2404C>G c.2606C>G (p.Ala869Gly) c.2507C>G (p.Ala836Gly) c.2921C>G (p.Ala974Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764779G= | CA2206693411 | GRIN2A | c.2765C= (p.Ala922=) c.2294C= (p.Ala765=) n.2358C= c.*135C= (n.*135C=) c.2354C= (p.Ala785=) n.2404C= c.2606C= (p.Ala869=) c.2507C= (p.Ala836=) c.2921C= (p.Ala974=) | |
16 | g.9764779G>T | CA394709404 | GRIN2A | c.2765C>A (p.Ala922Asp) c.2294C>A (p.Ala765Asp) n.2358C>A c.*135C>A (n.*135C>A) c.2354C>A (p.Ala785Asp) n.2404C>A c.2606C>A (p.Ala869Asp) c.2507C>A (p.Ala836Asp) c.2921C>A (p.Ala974Asp) | |
16 | g.9764780del | CA2695222772 | GRIN2A | c.2764del (p.Ala922LeufsTer20) c.2293del (p.Ala765LeufsTer20) n.2357del c.*134del (n.*134del) c.2353del (p.Ala785LeufsTer20) n.2403del c.2605del (p.Ala869LeufsTer20) c.2506del (p.Ala836LeufsTer20) c.2920del (p.Ala974LeufsTer20) | |
16 | g.9764780C>A | CA394709405 | GRIN2A | c.2764G>T (p.Ala922Ser) c.2293G>T (p.Ala765Ser) n.2357G>T c.*134G>T (n.*134G>T) c.2353G>T (p.Ala785Ser) n.2403G>T c.2605G>T (p.Ala869Ser) c.2506G>T (p.Ala836Ser) c.2920G>T (p.Ala974Ser) | dbSNP |
16 | g.9764780C= | CA2206693412 | GRIN2A | c.2764G= (p.Ala922=) c.2293G= (p.Ala765=) n.2357G= c.*134G= (n.*134G=) c.2353G= (p.Ala785=) n.2403G= c.2605G= (p.Ala869=) c.2506G= (p.Ala836=) c.2920G= (p.Ala974=) | |
16 | g.9764780C>G | CA394709406 | GRIN2A | c.2764G>C (p.Ala922Pro) c.2293G>C (p.Ala765Pro) n.2357G>C c.*134G>C (n.*134G>C) c.2353G>C (p.Ala785Pro) n.2403G>C c.2605G>C (p.Ala869Pro) c.2506G>C (p.Ala836Pro) c.2920G>C (p.Ala974Pro) | dbSNP |
16 | g.9764780C>T | CA394709407 | GRIN2A | c.2764G>A (p.Ala922Thr) c.2293G>A (p.Ala765Thr) n.2357G>A c.*134G>A (n.*134G>A) c.2353G>A (p.Ala785Thr) n.2403G>A c.2605G>A (p.Ala869Thr) c.2506G>A (p.Ala836Thr) c.2920G>A (p.Ala974Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764781A>C | CA493693508 | GRIN2A | c.2763T>G (p.Ala921=) c.2292T>G (p.Ala764=) n.2356T>G c.*133T>G (n.*133T>G) c.2352T>G (p.Ala784=) n.2402T>G c.2604T>G (p.Ala868=) c.2505T>G (p.Ala835=) c.2919T>G (p.Ala973=) | |
16 | g.9764781A>G | CA493693507 | GRIN2A | c.2763T>C (p.Ala921=) c.2292T>C (p.Ala764=) n.2356T>C c.*133T>C (n.*133T>C) c.2352T>C (p.Ala784=) n.2402T>C c.2604T>C (p.Ala868=) c.2505T>C (p.Ala835=) c.2919T>C (p.Ala973=) | |
16 | g.9764781A>T | CA493693506 | GRIN2A | c.2763T>A (p.Ala921=) c.2292T>A (p.Ala764=) n.2356T>A c.*133T>A (n.*133T>A) c.2352T>A (p.Ala784=) n.2402T>A c.2604T>A (p.Ala868=) c.2505T>A (p.Ala835=) c.2919T>A (p.Ala973=) | dbSNP |
16 | g.9764782G>A | CA394709410 | GRIN2A | c.2762C>T (p.Ala921Val) c.2291C>T (p.Ala764Val) n.2355C>T c.*132C>T (n.*132C>T) c.2351C>T (p.Ala784Val) n.2401C>T c.2603C>T (p.Ala868Val) c.2504C>T (p.Ala835Val) c.2918C>T (p.Ala973Val) | dbSNP gnomAD v4 |
16 | g.9764782G>C | CA394709409 | GRIN2A | c.2762C>G (p.Ala921Gly) c.2291C>G (p.Ala764Gly) n.2355C>G c.*132C>G (n.*132C>G) c.2351C>G (p.Ala784Gly) n.2401C>G c.2603C>G (p.Ala868Gly) c.2504C>G (p.Ala835Gly) c.2918C>G (p.Ala973Gly) | dbSNP |
16 | g.9764782G= | CA2206693413 | GRIN2A | c.2762C= (p.Ala921=) c.2291C= (p.Ala764=) n.2355C= c.*132C= (n.*132C=) c.2351C= (p.Ala784=) n.2401C= c.2603C= (p.Ala868=) c.2504C= (p.Ala835=) c.2918C= (p.Ala973=) | |
16 | g.9764782G>T | CA394709408 | GRIN2A | c.2762C>A (p.Ala921Asp) c.2291C>A (p.Ala764Asp) n.2355C>A c.*132C>A (n.*132C>A) c.2351C>A (p.Ala784Asp) n.2401C>A c.2603C>A (p.Ala868Asp) c.2504C>A (p.Ala835Asp) c.2918C>A (p.Ala973Asp) | |
16 | g.9764783C>A | CA394709411 | GRIN2A | c.2761G>T (p.Ala921Ser) c.2290G>T (p.Ala764Ser) n.2354G>T c.*131G>T (n.*131G>T) c.2350G>T (p.Ala784Ser) n.2400G>T c.2602G>T (p.Ala868Ser) c.2503G>T (p.Ala835Ser) c.2917G>T (p.Ala973Ser) | dbSNP |
16 | g.9764783C= | CA2206693414 | GRIN2A | c.2761G= (p.Ala921=) c.2290G= (p.Ala764=) n.2354G= c.*131G= (n.*131G=) c.2350G= (p.Ala784=) n.2400G= c.2602G= (p.Ala868=) c.2503G= (p.Ala835=) c.2917G= (p.Ala973=) | |
16 | g.9764783C>G | CA394709413 | GRIN2A | c.2761G>C (p.Ala921Pro) c.2290G>C (p.Ala764Pro) n.2354G>C c.*131G>C (n.*131G>C) c.2350G>C (p.Ala784Pro) n.2400G>C c.2602G>C (p.Ala868Pro) c.2503G>C (p.Ala835Pro) c.2917G>C (p.Ala973Pro) | dbSNP |
16 | g.9764783C>T | CA394709412 | GRIN2A | c.2761G>A (p.Ala921Thr) c.2290G>A (p.Ala764Thr) n.2354G>A c.*131G>A (n.*131G>A) c.2350G>A (p.Ala784Thr) n.2400G>A c.2602G>A (p.Ala868Thr) c.2503G>A (p.Ala835Thr) c.2917G>A (p.Ala973Thr) | dbSNP gnomAD v2 |
16 | g.9764784T>A | CA394709414 | GRIN2A | c.2760A>T (p.Arg920Ser) c.2289A>T (p.Arg763Ser) n.2353A>T c.*130A>T (n.*130A>T) c.2349A>T (p.Arg783Ser) n.2399A>T c.2601A>T (p.Arg867Ser) c.2502A>T (p.Arg834Ser) c.2916A>T (p.Arg972Ser) | dbSNP |
16 | g.9764784T>C | CA7896427 | GRIN2A | c.2760A>G (p.Arg920=) c.2289A>G (p.Arg763=) n.2353A>G c.*130A>G (n.*130A>G) c.2349A>G (p.Arg783=) n.2399A>G c.2601A>G (p.Arg867=) c.2502A>G (p.Arg834=) c.2916A>G (p.Arg972=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764784T>G | CA394709415 | GRIN2A | c.2760A>C (p.Arg920Ser) c.2289A>C (p.Arg763Ser) n.2353A>C c.*130A>C (n.*130A>C) c.2349A>C (p.Arg783Ser) n.2399A>C c.2601A>C (p.Arg867Ser) c.2502A>C (p.Arg834Ser) c.2916A>C (p.Arg972Ser) | |
16 | g.9764784T= | CA2206693415 | GRIN2A | c.2760A= (p.Arg920=) c.2289A= (p.Arg763=) n.2353A= c.*130A= (n.*130A=) c.2349A= (p.Arg783=) n.2399A= c.2601A= (p.Arg867=) c.2502A= (p.Arg834=) c.2916A= (p.Arg972=) | |
16 | g.9764785C>A | CA394709416 | GRIN2A | c.2759G>T (p.Arg920Ile) c.2288G>T (p.Arg763Ile) n.2352G>T c.*129G>T (n.*129G>T) c.2348G>T (p.Arg783Ile) n.2398G>T c.2600G>T (p.Arg867Ile) c.2501G>T (p.Arg834Ile) c.2915G>T (p.Arg972Ile) | |
16 | g.9764785C>G | CA394709418 | GRIN2A | c.2759G>C (p.Arg920Thr) c.2288G>C (p.Arg763Thr) n.2352G>C c.*129G>C (n.*129G>C) c.2348G>C (p.Arg783Thr) n.2398G>C c.2600G>C (p.Arg867Thr) c.2501G>C (p.Arg834Thr) c.2915G>C (p.Arg972Thr) | ClinVar |
16 | g.9764785C>T | CA394709417 | GRIN2A | c.2759G>A (p.Arg920Lys) c.2288G>A (p.Arg763Lys) n.2352G>A c.*129G>A (n.*129G>A) c.2348G>A (p.Arg783Lys) n.2398G>A c.2600G>A (p.Arg867Lys) c.2501G>A (p.Arg834Lys) c.2915G>A (p.Arg972Lys) | dbSNP COSMIC |
16 | g.9764786T>A | CA394709419 | GRIN2A | c.2758A>T (p.Arg920Ter) c.2287A>T (p.Arg763Ter) n.2351A>T c.*128A>T (n.*128A>T) c.2347A>T (p.Arg783Ter) n.2397A>T c.2599A>T (p.Arg867Ter) c.2500A>T (p.Arg834Ter) c.2914A>T (p.Arg972Ter) | dbSNP |
16 | g.9764786T>C | CA394709420 | GRIN2A | c.2758A>G (p.Arg920Gly) c.2287A>G (p.Arg763Gly) n.2351A>G c.*128A>G (n.*128A>G) c.2347A>G (p.Arg783Gly) n.2397A>G c.2599A>G (p.Arg867Gly) c.2500A>G (p.Arg834Gly) c.2914A>G (p.Arg972Gly) | dbSNP |
16 | g.9764786T>G | CA493693510 | GRIN2A | c.2758A>C (p.Arg920=) c.2287A>C (p.Arg763=) n.2351A>C c.*128A>C (n.*128A>C) c.2347A>C (p.Arg783=) n.2397A>C c.2599A>C (p.Arg867=) c.2500A>C (p.Arg834=) c.2914A>C (p.Arg972=) | |
16 | g.9764786T= | CA2206693416 | GRIN2A | c.2758A= (p.Arg920=) c.2287A= (p.Arg763=) n.2351A= c.*128A= (n.*128A=) c.2347A= (p.Arg783=) n.2397A= c.2599A= (p.Arg867=) c.2500A= (p.Arg834=) c.2914A= (p.Arg972=) | |
16 | g.9764787T>A | CA394709421 | GRIN2A | c.2757A>T (p.Lys919Asn) c.2286A>T (p.Lys762Asn) n.2350A>T c.*127A>T (n.*127A>T) c.2346A>T (p.Lys782Asn) n.2396A>T c.2598A>T (p.Lys866Asn) c.2499A>T (p.Lys833Asn) c.2913A>T (p.Lys971Asn) | dbSNP |
16 | g.9764787T>C | CA493693511 | GRIN2A | c.2757A>G (p.Lys919=) c.2286A>G (p.Lys762=) n.2350A>G c.*127A>G (n.*127A>G) c.2346A>G (p.Lys782=) n.2396A>G c.2598A>G (p.Lys866=) c.2499A>G (p.Lys833=) c.2913A>G (p.Lys971=) | |
16 | g.9764787T>G | CA394709422 | GRIN2A | c.2757A>C (p.Lys919Asn) c.2286A>C (p.Lys762Asn) n.2350A>C c.*127A>C (n.*127A>C) c.2346A>C (p.Lys782Asn) n.2396A>C c.2598A>C (p.Lys866Asn) c.2499A>C (p.Lys833Asn) c.2913A>C (p.Lys971Asn) | |
16 | g.9764787T= | CA2206693417 | GRIN2A | c.2757A= (p.Lys919=) c.2286A= (p.Lys762=) n.2350A= c.*127A= (n.*127A=) c.2346A= (p.Lys782=) n.2396A= c.2598A= (p.Lys866=) c.2499A= (p.Lys833=) c.2913A= (p.Lys971=) | |
16 | g.9764788T>A | CA394709423 | GRIN2A | c.2756A>T (p.Lys919Ile) c.2285A>T (p.Lys762Ile) n.2349A>T c.*126A>T (n.*126A>T) c.2345A>T (p.Lys782Ile) n.2395A>T c.2597A>T (p.Lys866Ile) c.2498A>T (p.Lys833Ile) c.2912A>T (p.Lys971Ile) | dbSNP |
16 | g.9764788T>C | CA394709424 | GRIN2A | c.2756A>G (p.Lys919Arg) c.2285A>G (p.Lys762Arg) n.2349A>G c.*126A>G (n.*126A>G) c.2345A>G (p.Lys782Arg) n.2395A>G c.2597A>G (p.Lys866Arg) c.2498A>G (p.Lys833Arg) c.2912A>G (p.Lys971Arg) | gnomAD v4 |
16 | g.9764788T>G | CA394709425 | GRIN2A | c.2756A>C (p.Lys919Thr) c.2285A>C (p.Lys762Thr) n.2349A>C c.*126A>C (n.*126A>C) c.2345A>C (p.Lys782Thr) n.2395A>C c.2597A>C (p.Lys866Thr) c.2498A>C (p.Lys833Thr) c.2912A>C (p.Lys971Thr) | gnomAD v4 |
16 | g.9764789T>A | CA394709426 | GRIN2A | c.2755A>T (p.Lys919Ter) c.2284A>T (p.Lys762Ter) n.2348A>T c.*125A>T (n.*125A>T) c.2344A>T (p.Lys782Ter) n.2394A>T c.2596A>T (p.Lys866Ter) c.2497A>T (p.Lys833Ter) c.2911A>T (p.Lys971Ter) | dbSNP |
16 | g.9764789T>C | CA394709427 | GRIN2A | c.2755A>G (p.Lys919Glu) c.2284A>G (p.Lys762Glu) n.2348A>G c.*125A>G (n.*125A>G) c.2344A>G (p.Lys782Glu) n.2394A>G c.2596A>G (p.Lys866Glu) c.2497A>G (p.Lys833Glu) c.2911A>G (p.Lys971Glu) | ClinVar dbSNP |
16 | g.9764789T>G | CA394709428 | GRIN2A | c.2755A>C (p.Lys919Gln) c.2284A>C (p.Lys762Gln) n.2348A>C c.*125A>C (n.*125A>C) c.2344A>C (p.Lys782Gln) n.2394A>C c.2596A>C (p.Lys866Gln) c.2497A>C (p.Lys833Gln) c.2911A>C (p.Lys971Gln) | |
16 | g.9764789T= | CA2206693418 | GRIN2A | c.2755A= (p.Lys919=) c.2284A= (p.Lys762=) n.2348A= c.*125A= (n.*125A=) c.2344A= (p.Lys782=) n.2394A= c.2596A= (p.Lys866=) c.2497A= (p.Lys833=) c.2911A= (p.Lys971=) | |
16 | g.9764790G>A | CA493693512 | GRIN2A | c.2754C>T (p.Pro918=) c.2283C>T (p.Pro761=) n.2347C>T c.*124C>T (n.*124C>T) c.2343C>T (p.Pro781=) n.2393C>T c.2595C>T (p.Pro865=) c.2496C>T (p.Pro832=) c.2910C>T (p.Pro970=) | dbSNP |
16 | g.9764790G>C | CA493693513 | GRIN2A | c.2754C>G (p.Pro918=) c.2283C>G (p.Pro761=) n.2347C>G c.*124C>G (n.*124C>G) c.2343C>G (p.Pro781=) n.2393C>G c.2595C>G (p.Pro865=) c.2496C>G (p.Pro832=) c.2910C>G (p.Pro970=) | |
16 | g.9764790G>T | CA493693514 | GRIN2A | c.2754C>A (p.Pro918=) c.2283C>A (p.Pro761=) n.2347C>A c.*124C>A (n.*124C>A) c.2343C>A (p.Pro781=) n.2393C>A c.2595C>A (p.Pro865=) c.2496C>A (p.Pro832=) c.2910C>A (p.Pro970=) | dbSNP |
16 | g.9764792del | CA2731720191 | GRIN2A | c.2754del (p.Arg920GlufsTer22) c.2283del (p.Arg763GlufsTer22) n.2347del c.*124del (n.*124del) c.2343del (p.Arg783GlufsTer22) n.2393del c.2595del (p.Arg867GlufsTer22) c.2496del (p.Arg834GlufsTer22) c.2910del (p.Arg972GlufsTer22) | dbSNP |
16 | g.9764791G>A | CA394709429 | GRIN2A | c.2753C>T (p.Pro918Leu) c.2282C>T (p.Pro761Leu) n.2346C>T c.*123C>T (n.*123C>T) c.2342C>T (p.Pro781Leu) n.2392C>T c.2594C>T (p.Pro865Leu) c.2495C>T (p.Pro832Leu) c.2909C>T (p.Pro970Leu) | dbSNP |
16 | g.9764791G>C | CA394709430 | GRIN2A | c.2753C>G (p.Pro918Arg) c.2282C>G (p.Pro761Arg) n.2346C>G c.*123C>G (n.*123C>G) c.2342C>G (p.Pro781Arg) n.2392C>G c.2594C>G (p.Pro865Arg) c.2495C>G (p.Pro832Arg) c.2909C>G (p.Pro970Arg) | dbSNP |
16 | g.9764791G>T | CA394709431 | GRIN2A | c.2753C>A (p.Pro918His) c.2282C>A (p.Pro761His) n.2346C>A c.*123C>A (n.*123C>A) c.2342C>A (p.Pro781His) n.2392C>A c.2594C>A (p.Pro865His) c.2495C>A (p.Pro832His) c.2909C>A (p.Pro970His) | dbSNP |
16 | g.9764792G>A | CA7896428 | GRIN2A | c.2752C>T (p.Pro918Ser) c.2281C>T (p.Pro761Ser) n.2345C>T c.*122C>T (n.*122C>T) c.2341C>T (p.Pro781Ser) n.2391C>T c.2593C>T (p.Pro865Ser) c.2494C>T (p.Pro832Ser) c.2908C>T (p.Pro970Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764792G>C | CA394709433 | GRIN2A | c.2752C>G (p.Pro918Ala) c.2281C>G (p.Pro761Ala) n.2345C>G c.*122C>G (n.*122C>G) c.2341C>G (p.Pro781Ala) n.2391C>G c.2593C>G (p.Pro865Ala) c.2494C>G (p.Pro832Ala) c.2908C>G (p.Pro970Ala) | dbSNP |
16 | g.9764792G= | CA2206693419 | GRIN2A | c.2752C= (p.Pro918=) c.2281C= (p.Pro761=) n.2345C= c.*122C= (n.*122C=) c.2341C= (p.Pro781=) n.2391C= c.2593C= (p.Pro865=) c.2494C= (p.Pro832=) c.2908C= (p.Pro970=) | |
16 | g.9764792G>T | CA394709432 | GRIN2A | c.2752C>A (p.Pro918Thr) c.2281C>A (p.Pro761Thr) n.2345C>A c.*122C>A (n.*122C>A) c.2341C>A (p.Pro781Thr) n.2391C>A c.2593C>A (p.Pro865Thr) c.2494C>A (p.Pro832Thr) c.2908C>A (p.Pro970Thr) | dbSNP |
16 | g.9764793T>A | CA493693518 | GRIN2A | c.2751A>T (p.Ser917=) c.2280A>T (p.Ser760=) n.2344A>T c.*121A>T (n.*121A>T) c.2340A>T (p.Ser780=) n.2390A>T c.2592A>T (p.Ser864=) c.2493A>T (p.Ser831=) c.2907A>T (p.Ser969=) | dbSNP |
16 | g.9764793T>C | CA493693519 | GRIN2A | c.2751A>G (p.Ser917=) c.2280A>G (p.Ser760=) n.2344A>G c.*121A>G (n.*121A>G) c.2340A>G (p.Ser780=) n.2390A>G c.2592A>G (p.Ser864=) c.2493A>G (p.Ser831=) c.2907A>G (p.Ser969=) | dbSNP |
16 | g.9764793T>G | CA493693520 | GRIN2A | c.2751A>C (p.Ser917=) c.2280A>C (p.Ser760=) n.2344A>C c.*121A>C (n.*121A>C) c.2340A>C (p.Ser780=) n.2390A>C c.2592A>C (p.Ser864=) c.2493A>C (p.Ser831=) c.2907A>C (p.Ser969=) | dbSNP |
16 | g.9764794G>A | CA394709434 | GRIN2A | c.2750C>T (p.Ser917Leu) c.2279C>T (p.Ser760Leu) n.2343C>T c.*120C>T (n.*120C>T) c.2339C>T (p.Ser780Leu) n.2389C>T c.2591C>T (p.Ser864Leu) c.2492C>T (p.Ser831Leu) c.2906C>T (p.Ser969Leu) | dbSNP gnomAD v4 |
16 | g.9764794G>C | CA394709435 | GRIN2A | c.2750C>G (p.Ser917Ter) c.2279C>G (p.Ser760Ter) n.2343C>G c.*120C>G (n.*120C>G) c.2339C>G (p.Ser780Ter) n.2389C>G c.2591C>G (p.Ser864Ter) c.2492C>G (p.Ser831Ter) c.2906C>G (p.Ser969Ter) | dbSNP |
16 | g.9764794G= | CA2206693420 | GRIN2A | c.2750C= (p.Ser917=) c.2279C= (p.Ser760=) n.2343C= c.*120C= (n.*120C=) c.2339C= (p.Ser780=) n.2389C= c.2591C= (p.Ser864=) c.2492C= (p.Ser831=) c.2906C= (p.Ser969=) | |
16 | g.9764794G>T | CA394709436 | GRIN2A | c.2750C>A (p.Ser917Ter) c.2279C>A (p.Ser760Ter) n.2343C>A c.*120C>A (n.*120C>A) c.2339C>A (p.Ser780Ter) n.2389C>A c.2591C>A (p.Ser864Ter) c.2492C>A (p.Ser831Ter) c.2906C>A (p.Ser969Ter) | |
16 | g.9764795A= | CA2206693421 | GRIN2A | c.2749T= (p.Ser917=) c.2278T= (p.Ser760=) n.2342T= c.*119T= (n.*119T=) c.2338T= (p.Ser780=) n.2388T= c.2590T= (p.Ser864=) c.2491T= (p.Ser831=) c.2905T= (p.Ser969=) | |
16 | g.9764795A>C | CA16615490 | GRIN2A | c.2749T>G (p.Ser917Ala) c.2278T>G (p.Ser760Ala) n.2342T>G c.*119T>G (n.*119T>G) c.2338T>G (p.Ser780Ala) n.2388T>G c.2590T>G (p.Ser864Ala) c.2491T>G (p.Ser831Ala) c.2905T>G (p.Ser969Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764795A>G | CA394709437 | GRIN2A | c.2749T>C (p.Ser917Pro) c.2278T>C (p.Ser760Pro) n.2342T>C c.*119T>C (n.*119T>C) c.2338T>C (p.Ser780Pro) n.2388T>C c.2590T>C (p.Ser864Pro) c.2491T>C (p.Ser831Pro) c.2905T>C (p.Ser969Pro) | |
16 | g.9764795A>T | CA394709438 | GRIN2A | c.2749T>A (p.Ser917Thr) c.2278T>A (p.Ser760Thr) n.2342T>A c.*119T>A (n.*119T>A) c.2338T>A (p.Ser780Thr) n.2388T>A c.2590T>A (p.Ser864Thr) c.2491T>A (p.Ser831Thr) c.2905T>A (p.Ser969Thr) | dbSNP |
16 | g.9764796G>A | CA493693521 | GRIN2A | c.2748C>T (p.Asp916=) c.2277C>T (p.Asp759=) n.2341C>T c.*118C>T (n.*118C>T) c.2337C>T (p.Asp779=) n.2387C>T c.2589C>T (p.Asp863=) c.2490C>T (p.Asp830=) c.2904C>T (p.Asp968=) | dbSNP gnomAD v4 |
16 | g.9764796G>C | CA7896429 | GRIN2A | c.2748C>G (p.Asp916Glu) c.2277C>G (p.Asp759Glu) n.2341C>G c.*118C>G (n.*118C>G) c.2337C>G (p.Asp779Glu) n.2387C>G c.2589C>G (p.Asp863Glu) c.2490C>G (p.Asp830Glu) c.2904C>G (p.Asp968Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764796G= | CA2206693422 | GRIN2A | c.2748C= (p.Asp916=) c.2277C= (p.Asp759=) n.2341C= c.*118C= (n.*118C=) c.2337C= (p.Asp779=) n.2387C= c.2589C= (p.Asp863=) c.2490C= (p.Asp830=) c.2904C= (p.Asp968=) | |
16 | g.9764796G>T | CA394709439 | GRIN2A | c.2748C>A (p.Asp916Glu) c.2277C>A (p.Asp759Glu) n.2341C>A c.*118C>A (n.*118C>A) c.2337C>A (p.Asp779Glu) n.2387C>A c.2589C>A (p.Asp863Glu) c.2490C>A (p.Asp830Glu) c.2904C>A (p.Asp968Glu) | COSMIC |
16 | g.9764797T>A | CA394709440 | GRIN2A | c.2747A>T (p.Asp916Val) c.2276A>T (p.Asp759Val) n.2340A>T c.*117A>T (n.*117A>T) c.2336A>T (p.Asp779Val) n.2386A>T c.2588A>T (p.Asp863Val) c.2489A>T (p.Asp830Val) c.2903A>T (p.Asp968Val) | |
16 | g.9764797T>C | CA7896430 | GRIN2A | c.2747A>G (p.Asp916Gly) c.2276A>G (p.Asp759Gly) n.2340A>G c.*117A>G (n.*117A>G) c.2336A>G (p.Asp779Gly) n.2386A>G c.2588A>G (p.Asp863Gly) c.2489A>G (p.Asp830Gly) c.2903A>G (p.Asp968Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764797T>G | CA394709441 | GRIN2A | c.2747A>C (p.Asp916Ala) c.2276A>C (p.Asp759Ala) n.2340A>C c.*117A>C (n.*117A>C) c.2336A>C (p.Asp779Ala) n.2386A>C c.2588A>C (p.Asp863Ala) c.2489A>C (p.Asp830Ala) c.2903A>C (p.Asp968Ala) | |
16 | g.9764797T= | CA2206693423 | GRIN2A | c.2747A= (p.Asp916=) c.2276A= (p.Asp759=) n.2340A= c.*117A= (n.*117A=) c.2336A= (p.Asp779=) n.2386A= c.2588A= (p.Asp863=) c.2489A= (p.Asp830=) c.2903A= (p.Asp968=) | |
16 | g.9764798C>A | CA394709444 | GRIN2A | c.2746G>T (p.Asp916Tyr) c.2275G>T (p.Asp759Tyr) n.2339G>T c.*116G>T (n.*116G>T) c.2335G>T (p.Asp779Tyr) n.2385G>T c.2587G>T (p.Asp863Tyr) c.2488G>T (p.Asp830Tyr) c.2902G>T (p.Asp968Tyr) | dbSNP |
16 | g.9764798C>G | CA394709443 | GRIN2A | c.2746G>C (p.Asp916His) c.2275G>C (p.Asp759His) n.2339G>C c.*116G>C (n.*116G>C) c.2335G>C (p.Asp779His) n.2385G>C c.2587G>C (p.Asp863His) c.2488G>C (p.Asp830His) c.2902G>C (p.Asp968His) | dbSNP gnomAD v4 |
16 | g.9764798C>T | CA394709442 | GRIN2A | c.2746G>A (p.Asp916Asn) c.2275G>A (p.Asp759Asn) n.2339G>A c.*116G>A (n.*116G>A) c.2335G>A (p.Asp779Asn) n.2385G>A c.2587G>A (p.Asp863Asn) c.2488G>A (p.Asp830Asn) c.2902G>A (p.Asp968Asn) | dbSNP COSMIC |
16 | g.9764799C>A | CA394709445 | GRIN2A | c.2745G>T (p.Met915Ile) c.2274G>T (p.Met758Ile) n.2338G>T c.*115G>T (n.*115G>T) c.2334G>T (p.Met778Ile) n.2384G>T c.2586G>T (p.Met862Ile) c.2487G>T (p.Met829Ile) c.2901G>T (p.Met967Ile) | dbSNP |
16 | g.9764799C= | CA2206693424 | GRIN2A | c.2745G= (p.Met915=) c.2274G= (p.Met758=) n.2338G= c.*115G= (n.*115G=) c.2334G= (p.Met778=) n.2384G= c.2586G= (p.Met862=) c.2487G= (p.Met829=) c.2901G= (p.Met967=) | |
16 | g.9764799C>G | CA394709446 | GRIN2A | c.2745G>C (p.Met915Ile) c.2274G>C (p.Met758Ile) n.2338G>C c.*115G>C (n.*115G>C) c.2334G>C (p.Met778Ile) n.2384G>C c.2586G>C (p.Met862Ile) c.2487G>C (p.Met829Ile) c.2901G>C (p.Met967Ile) | |
16 | g.9764799C>T | CA394709447 | GRIN2A | c.2745G>A (p.Met915Ile) c.2274G>A (p.Met758Ile) n.2338G>A c.*115G>A (n.*115G>A) c.2334G>A (p.Met778Ile) n.2384G>A c.2586G>A (p.Met862Ile) c.2487G>A (p.Met829Ile) c.2901G>A (p.Met967Ile) | dbSNP |
16 | g.9764800A= | CA2206693425 | GRIN2A | c.2744T= (p.Met915=) c.2273T= (p.Met758=) n.2337T= c.*114T= (n.*114T=) c.2333T= (p.Met778=) n.2383T= c.2585T= (p.Met862=) c.2486T= (p.Met829=) c.2900T= (p.Met967=) | |
16 | g.9764800A>C | CA394709448 | GRIN2A | c.2744T>G (p.Met915Arg) c.2273T>G (p.Met758Arg) n.2337T>G c.*114T>G (n.*114T>G) c.2333T>G (p.Met778Arg) n.2383T>G c.2585T>G (p.Met862Arg) c.2486T>G (p.Met829Arg) c.2900T>G (p.Met967Arg) | gnomAD v4 |
16 | g.9764800A>G | CA16615071 | GRIN2A | c.2744T>C (p.Met915Thr) c.2273T>C (p.Met758Thr) n.2337T>C c.*114T>C (n.*114T>C) c.2333T>C (p.Met778Thr) n.2383T>C c.2585T>C (p.Met862Thr) c.2486T>C (p.Met829Thr) c.2900T>C (p.Met967Thr) | ClinVar dbSNP |
16 | g.9764800A>T | CA394709449 | GRIN2A | c.2744T>A (p.Met915Lys) c.2273T>A (p.Met758Lys) n.2337T>A c.*114T>A (n.*114T>A) c.2333T>A (p.Met778Lys) n.2383T>A c.2585T>A (p.Met862Lys) c.2486T>A (p.Met829Lys) c.2900T>A (p.Met967Lys) | dbSNP |
16 | g.9764801T>A | CA7896431 | GRIN2A | c.2743A>T (p.Met915Leu) c.2272A>T (p.Met758Leu) n.2336A>T c.*113A>T (n.*113A>T) c.2332A>T (p.Met778Leu) n.2382A>T c.2584A>T (p.Met862Leu) c.2485A>T (p.Met829Leu) c.2899A>T (p.Met967Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764801T>C | CA394709450 | GRIN2A | c.2743A>G (p.Met915Val) c.2272A>G (p.Met758Val) n.2336A>G c.*113A>G (n.*113A>G) c.2332A>G (p.Met778Val) n.2382A>G c.2584A>G (p.Met862Val) c.2485A>G (p.Met829Val) c.2899A>G (p.Met967Val) | gnomAD v4 |
16 | g.9764801T>G | CA394709451 | GRIN2A | c.2743A>C (p.Met915Leu) c.2272A>C (p.Met758Leu) n.2336A>C c.*113A>C (n.*113A>C) c.2332A>C (p.Met778Leu) n.2382A>C c.2584A>C (p.Met862Leu) c.2485A>C (p.Met829Leu) c.2899A>C (p.Met967Leu) | |
16 | g.9764801T= | CA2206693426 | GRIN2A | c.2743A= (p.Met915=) c.2272A= (p.Met758=) n.2336A= c.*113A= (n.*113A=) c.2332A= (p.Met778=) n.2382A= c.2584A= (p.Met862=) c.2485A= (p.Met829=) c.2899A= (p.Met967=) | |
16 | g.9764802T>A | CA394709452 | GRIN2A | c.2742A>T (p.Arg914Ser) c.2271A>T (p.Arg757Ser) n.2335A>T c.*112A>T (n.*112A>T) c.2331A>T (p.Arg777Ser) n.2381A>T c.2583A>T (p.Arg861Ser) c.2484A>T (p.Arg828Ser) c.2898A>T (p.Arg966Ser) | |
16 | g.9764802T>C | CA493693524 | GRIN2A | c.2742A>G (p.Arg914=) c.2271A>G (p.Arg757=) n.2335A>G c.*112A>G (n.*112A>G) c.2331A>G (p.Arg777=) n.2381A>G c.2583A>G (p.Arg861=) c.2484A>G (p.Arg828=) c.2898A>G (p.Arg966=) | |
16 | g.9764802T>G | CA394709453 | GRIN2A | c.2742A>C (p.Arg914Ser) c.2271A>C (p.Arg757Ser) n.2335A>C c.*112A>C (n.*112A>C) c.2331A>C (p.Arg777Ser) n.2381A>C c.2583A>C (p.Arg861Ser) c.2484A>C (p.Arg828Ser) c.2898A>C (p.Arg966Ser) | |
16 | g.9764803C>A | CA394709456 | GRIN2A | c.2741G>T (p.Arg914Ile) c.2270G>T (p.Arg757Ile) n.2334G>T c.*111G>T (n.*111G>T) c.2330G>T (p.Arg777Ile) n.2380G>T c.2582G>T (p.Arg861Ile) c.2483G>T (p.Arg828Ile) c.2897G>T (p.Arg966Ile) | dbSNP |
16 | g.9764803C>G | CA394709455 | GRIN2A | c.2741G>C (p.Arg914Thr) c.2270G>C (p.Arg757Thr) n.2334G>C c.*111G>C (n.*111G>C) c.2330G>C (p.Arg777Thr) n.2380G>C c.2582G>C (p.Arg861Thr) c.2483G>C (p.Arg828Thr) c.2897G>C (p.Arg966Thr) | dbSNP |
16 | g.9764803C>T | CA394709454 | GRIN2A | c.2741G>A (p.Arg914Lys) c.2270G>A (p.Arg757Lys) n.2334G>A c.*111G>A (n.*111G>A) c.2330G>A (p.Arg777Lys) n.2380G>A c.2582G>A (p.Arg861Lys) c.2483G>A (p.Arg828Lys) c.2897G>A (p.Arg966Lys) | dbSNP |
16 | g.9764804T>A | CA394709457 | GRIN2A | c.2740A>T (p.Arg914Ter) c.2269A>T (p.Arg757Ter) n.2333A>T c.*110A>T (n.*110A>T) c.2329A>T (p.Arg777Ter) n.2379A>T c.2581A>T (p.Arg861Ter) c.2482A>T (p.Arg828Ter) c.2896A>T (p.Arg966Ter) | dbSNP |
16 | g.9764804T>C | CA394709458 | GRIN2A | c.2740A>G (p.Arg914Gly) c.2269A>G (p.Arg757Gly) n.2333A>G c.*110A>G (n.*110A>G) c.2329A>G (p.Arg777Gly) n.2379A>G c.2581A>G (p.Arg861Gly) c.2482A>G (p.Arg828Gly) c.2896A>G (p.Arg966Gly) | |
16 | g.9764804T>G | CA493693525 | GRIN2A | c.2740A>C (p.Arg914=) c.2269A>C (p.Arg757=) n.2333A>C c.*110A>C (n.*110A>C) c.2329A>C (p.Arg777=) n.2379A>C c.2581A>C (p.Arg861=) c.2482A>C (p.Arg828=) c.2896A>C (p.Arg966=) | |
16 | g.9764804T= | CA2206693427 | GRIN2A | c.2740A= (p.Arg914=) c.2269A= (p.Arg757=) n.2333A= c.*110A= (n.*110A=) c.2329A= (p.Arg777=) n.2379A= c.2581A= (p.Arg861=) c.2482A= (p.Arg828=) c.2896A= (p.Arg966=) | |
16 | g.9764805T>A | CA493693526 | GRIN2A | c.2739A>T (p.Ser913=) c.2268A>T (p.Ser756=) n.2332A>T c.*109A>T (n.*109A>T) c.2328A>T (p.Ser776=) n.2378A>T c.2580A>T (p.Ser860=) c.2481A>T (p.Ser827=) c.2895A>T (p.Ser965=) | dbSNP |
16 | g.9764805T>C | CA493693527 | GRIN2A | c.2739A>G (p.Ser913=) c.2268A>G (p.Ser756=) n.2332A>G c.*109A>G (n.*109A>G) c.2328A>G (p.Ser776=) n.2378A>G c.2580A>G (p.Ser860=) c.2481A>G (p.Ser827=) c.2895A>G (p.Ser965=) | dbSNP |
16 | g.9764805T>G | CA493693528 | GRIN2A | c.2739A>C (p.Ser913=) c.2268A>C (p.Ser756=) n.2332A>C c.*109A>C (n.*109A>C) c.2328A>C (p.Ser776=) n.2378A>C c.2580A>C (p.Ser860=) c.2481A>C (p.Ser827=) c.2895A>C (p.Ser965=) | |
16 | g.9764806G>A | CA394709459 | GRIN2A | c.2738C>T (p.Ser913Leu) c.2267C>T (p.Ser756Leu) n.2331C>T c.*108C>T (n.*108C>T) c.2327C>T (p.Ser776Leu) n.2377C>T c.2579C>T (p.Ser860Leu) c.2480C>T (p.Ser827Leu) c.2894C>T (p.Ser965Leu) | dbSNP |
16 | g.9764806G>C | CA394709460 | GRIN2A | c.2738C>G (p.Ser913Ter) c.2267C>G (p.Ser756Ter) n.2331C>G c.*108C>G (n.*108C>G) c.2327C>G (p.Ser776Ter) n.2377C>G c.2579C>G (p.Ser860Ter) c.2480C>G (p.Ser827Ter) c.2894C>G (p.Ser965Ter) | |
16 | g.9764806G>T | CA394709461 | GRIN2A | c.2738C>A (p.Ser913Ter) c.2267C>A (p.Ser756Ter) n.2331C>A c.*108C>A (n.*108C>A) c.2327C>A (p.Ser776Ter) n.2377C>A c.2579C>A (p.Ser860Ter) c.2480C>A (p.Ser827Ter) c.2894C>A (p.Ser965Ter) | dbSNP |
16 | g.9764809_9764811del | CA645372112 | GRIN2A | c.2736_2738del (p.Ser913del) c.2265_2267del (p.Ser756del) n.2329_2331del c.*106_*108del (n.*106_*108del) c.2325_2327del (p.Ser776del) n.2375_2377del c.2577_2579del (p.Ser860del) c.2478_2480del (p.Ser827del) c.2892_2894del (p.Ser965del) | |
16 | g.9764807A>C | CA394709462 | GRIN2A | c.2737T>G (p.Ser913Ala) c.2266T>G (p.Ser756Ala) n.2330T>G c.*107T>G (n.*107T>G) c.2326T>G (p.Ser776Ala) n.2376T>G c.2578T>G (p.Ser860Ala) c.2479T>G (p.Ser827Ala) c.2893T>G (p.Ser965Ala) | |
16 | g.9764807A>G | CA394709463 | GRIN2A | c.2737T>C (p.Ser913Pro) c.2266T>C (p.Ser756Pro) n.2330T>C c.*107T>C (n.*107T>C) c.2326T>C (p.Ser776Pro) n.2376T>C c.2578T>C (p.Ser860Pro) c.2479T>C (p.Ser827Pro) c.2893T>C (p.Ser965Pro) | dbSNP |
16 | g.9764807A>T | CA394709464 | GRIN2A | c.2737T>A (p.Ser913Thr) c.2266T>A (p.Ser756Thr) n.2330T>A c.*107T>A (n.*107T>A) c.2326T>A (p.Ser776Thr) n.2376T>A c.2578T>A (p.Ser860Thr) c.2479T>A (p.Ser827Thr) c.2893T>A (p.Ser965Thr) | dbSNP |
16 | g.9764808G>A | CA493693533 | GRIN2A | c.2736C>T (p.Ser912=) c.2265C>T (p.Ser755=) n.2329C>T c.*106C>T (n.*106C>T) c.2325C>T (p.Ser775=) n.2375C>T c.2577C>T (p.Ser859=) c.2478C>T (p.Ser826=) c.2892C>T (p.Ser964=) | dbSNP |
16 | g.9764808G>C | CA493693534 | GRIN2A | c.2736C>G (p.Ser912=) c.2265C>G (p.Ser755=) n.2329C>G c.*106C>G (n.*106C>G) c.2325C>G (p.Ser775=) n.2375C>G c.2577C>G (p.Ser859=) c.2478C>G (p.Ser826=) c.2892C>G (p.Ser964=) | |
16 | g.9764808G= | CA2206693428 | GRIN2A | c.2736C= (p.Ser912=) c.2265C= (p.Ser755=) n.2329C= c.*106C= (n.*106C=) c.2325C= (p.Ser775=) n.2375C= c.2577C= (p.Ser859=) c.2478C= (p.Ser826=) c.2892C= (p.Ser964=) | |
16 | g.9764808G>T | CA7896432 | GRIN2A | c.2736C>A (p.Ser912=) c.2265C>A (p.Ser755=) n.2329C>A c.*106C>A (n.*106C>A) c.2325C>A (p.Ser775=) n.2375C>A c.2577C>A (p.Ser859=) c.2478C>A (p.Ser826=) c.2892C>A (p.Ser964=) | dbSNP ExAC gnomAD v2 |
16 | g.9764809G>A | CA394709465 | GRIN2A | c.2735C>T (p.Ser912Phe) c.2264C>T (p.Ser755Phe) n.2328C>T c.*105C>T (n.*105C>T) c.2324C>T (p.Ser775Phe) n.2374C>T c.2576C>T (p.Ser859Phe) c.2477C>T (p.Ser826Phe) c.2891C>T (p.Ser964Phe) | dbSNP |
16 | g.9764809G>C | CA7896433 | GRIN2A | c.2735C>G (p.Ser912Cys) c.2264C>G (p.Ser755Cys) n.2328C>G c.*105C>G (n.*105C>G) c.2324C>G (p.Ser775Cys) n.2374C>G c.2576C>G (p.Ser859Cys) c.2477C>G (p.Ser826Cys) c.2891C>G (p.Ser964Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764809G= | CA2206693429 | GRIN2A | c.2735C= (p.Ser912=) c.2264C= (p.Ser755=) n.2328C= c.*105C= (n.*105C=) c.2324C= (p.Ser775=) n.2374C= c.2576C= (p.Ser859=) c.2477C= (p.Ser826=) c.2891C= (p.Ser964=) | |
16 | g.9764809G>T | CA394709466 | GRIN2A | c.2735C>A (p.Ser912Tyr) c.2264C>A (p.Ser755Tyr) n.2328C>A c.*105C>A (n.*105C>A) c.2324C>A (p.Ser775Tyr) n.2374C>A c.2576C>A (p.Ser859Tyr) c.2477C>A (p.Ser826Tyr) c.2891C>A (p.Ser964Tyr) | |
16 | g.9764810A>C | CA394709468 | GRIN2A | c.2734T>G (p.Ser912Ala) c.2263T>G (p.Ser755Ala) n.2327T>G c.*104T>G (n.*104T>G) c.2323T>G (p.Ser775Ala) n.2373T>G c.2575T>G (p.Ser859Ala) c.2476T>G (p.Ser826Ala) c.2890T>G (p.Ser964Ala) | gnomAD v4 |
16 | g.9764810A>G | CA394709469 | GRIN2A | c.2734T>C (p.Ser912Pro) c.2263T>C (p.Ser755Pro) n.2327T>C c.*104T>C (n.*104T>C) c.2323T>C (p.Ser775Pro) n.2373T>C c.2575T>C (p.Ser859Pro) c.2476T>C (p.Ser826Pro) c.2890T>C (p.Ser964Pro) | |
16 | g.9764810A>T | CA394709467 | GRIN2A | c.2734T>A (p.Ser912Thr) c.2263T>A (p.Ser755Thr) n.2327T>A c.*104T>A (n.*104T>A) c.2323T>A (p.Ser775Thr) n.2373T>A c.2575T>A (p.Ser859Thr) c.2476T>A (p.Ser826Thr) c.2890T>A (p.Ser964Thr) | dbSNP |
16 | g.9764811G>A | CA493693536 | GRIN2A | c.2733C>T (p.Asn911=) c.2262C>T (p.Asn754=) n.2326C>T c.*103C>T (n.*103C>T) c.2322C>T (p.Asn774=) n.2372C>T c.2574C>T (p.Asn858=) c.2475C>T (p.Asn825=) c.2889C>T (p.Asn963=) | dbSNP gnomAD v4 |
16 | g.9764811G>C | CA394709471 | GRIN2A | c.2733C>G (p.Asn911Lys) c.2262C>G (p.Asn754Lys) n.2326C>G c.*103C>G (n.*103C>G) c.2322C>G (p.Asn774Lys) n.2372C>G c.2574C>G (p.Asn858Lys) c.2475C>G (p.Asn825Lys) c.2889C>G (p.Asn963Lys) | ClinVar dbSNP |
16 | g.9764811G= | CA2206693430 | GRIN2A | c.2733C= (p.Asn911=) c.2262C= (p.Asn754=) n.2326C= c.*103C= (n.*103C=) c.2322C= (p.Asn774=) n.2372C= c.2574C= (p.Asn858=) c.2475C= (p.Asn825=) c.2889C= (p.Asn963=) | |
16 | g.9764811G>T | CA394709470 | GRIN2A | c.2733C>A (p.Asn911Lys) c.2262C>A (p.Asn754Lys) n.2326C>A c.*103C>A (n.*103C>A) c.2322C>A (p.Asn774Lys) n.2372C>A c.2574C>A (p.Asn858Lys) c.2475C>A (p.Asn825Lys) c.2889C>A (p.Asn963Lys) | dbSNP |
16 | g.9764812T>A | CA394709472 | GRIN2A | c.2732A>T (p.Asn911Ile) c.2261A>T (p.Asn754Ile) n.2325A>T c.*102A>T (n.*102A>T) c.2321A>T (p.Asn774Ile) n.2371A>T c.2573A>T (p.Asn858Ile) c.2474A>T (p.Asn825Ile) c.2888A>T (p.Asn963Ile) | dbSNP |
16 | g.9764812T>C | CA394709473 | GRIN2A | c.2732A>G (p.Asn911Ser) c.2261A>G (p.Asn754Ser) n.2325A>G c.*102A>G (n.*102A>G) c.2321A>G (p.Asn774Ser) n.2371A>G c.2573A>G (p.Asn858Ser) c.2474A>G (p.Asn825Ser) c.2888A>G (p.Asn963Ser) | gnomAD v4 |
16 | g.9764812T>G | CA394709474 | GRIN2A | c.2732A>C (p.Asn911Thr) c.2261A>C (p.Asn754Thr) n.2325A>C c.*102A>C (n.*102A>C) c.2321A>C (p.Asn774Thr) n.2371A>C c.2573A>C (p.Asn858Thr) c.2474A>C (p.Asn825Thr) c.2888A>C (p.Asn963Thr) | dbSNP |
16 | g.9764813T>A | CA394709475 | GRIN2A | c.2731A>T (p.Asn911Tyr) c.2260A>T (p.Asn754Tyr) n.2324A>T c.*101A>T (n.*101A>T) c.2320A>T (p.Asn774Tyr) n.2370A>T c.2572A>T (p.Asn858Tyr) c.2473A>T (p.Asn825Tyr) c.2887A>T (p.Asn963Tyr) | ClinVar gnomAD v4 |
16 | g.9764813T>C | CA394709476 | GRIN2A | c.2731A>G (p.Asn911Asp) c.2260A>G (p.Asn754Asp) n.2324A>G c.*101A>G (n.*101A>G) c.2320A>G (p.Asn774Asp) n.2370A>G c.2572A>G (p.Asn858Asp) c.2473A>G (p.Asn825Asp) c.2887A>G (p.Asn963Asp) | |
16 | g.9764813T>G | CA394709477 | GRIN2A | c.2731A>C (p.Asn911His) c.2260A>C (p.Asn754His) n.2324A>C c.*101A>C (n.*101A>C) c.2320A>C (p.Asn774His) n.2370A>C c.2572A>C (p.Asn858His) c.2473A>C (p.Asn825His) c.2887A>C (p.Asn963His) | |
16 | g.9764813_9764822delinsTCATGTTGGA | CA2206693431 | GRIN2A | c.2722_2731delinsTCCAACATGA (p.Ser908=) c.2251_2260delinsTCCAACATGA (p.Ser751=) n.2315_2324delinsTCCAACATGA c.*92_*101delinsTCCAACATGA (n.*92_*101delinsTCCAACATGA) c.2311_2320delinsTCCAACATGA (p.Ser771=) n.2361_2370delinsTCCAACATGA c.2563_2572delinsTCCAACATGA (p.Ser855=) c.2464_2473delinsTCCAACATGA (p.Ser822=) c.2878_2887delinsTCCAACATGA (p.Ser960=) | |
16 | g.9764814C>A | CA394709478 | GRIN2A | c.2730G>T (p.Met910Ile) c.2259G>T (p.Met753Ile) n.2323G>T c.*100G>T (n.*100G>T) c.2319G>T (p.Met773Ile) n.2369G>T c.2571G>T (p.Met857Ile) c.2472G>T (p.Met824Ile) c.2886G>T (p.Met962Ile) | dbSNP |
16 | g.9764814C>G | CA394709479 | GRIN2A | c.2730G>C (p.Met910Ile) c.2259G>C (p.Met753Ile) n.2323G>C c.*100G>C (n.*100G>C) c.2319G>C (p.Met773Ile) n.2369G>C c.2571G>C (p.Met857Ile) c.2472G>C (p.Met824Ile) c.2886G>C (p.Met962Ile) | dbSNP |
16 | g.9764814C>T | CA394709480 | GRIN2A | c.2730G>A (p.Met910Ile) c.2259G>A (p.Met753Ile) n.2323G>A c.*100G>A (n.*100G>A) c.2319G>A (p.Met773Ile) n.2369G>A c.2571G>A (p.Met857Ile) c.2472G>A (p.Met824Ile) c.2886G>A (p.Met962Ile) | dbSNP COSMIC |
16 | g.9764818_9764826del | CA621175178 | GRIN2A | c.2722_2730del (p.Ser908_Met910del) c.2251_2259del (p.Ser751_Met753del) n.2315_2323del c.*92_*100del (n.*92_*100del) c.2311_2319del (p.Ser771_Met773del) n.2361_2369del c.2563_2571del (p.Ser855_Met857del) c.2464_2472del (p.Ser822_Met824del) c.2878_2886del (p.Ser960_Met962del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764815A= | CA2206693432 | GRIN2A | c.2729T= (p.Met910=) c.2258T= (p.Met753=) n.2322T= c.*99T= (n.*99T=) c.2318T= (p.Met773=) n.2368T= c.2570T= (p.Met857=) c.2471T= (p.Met824=) c.2885T= (p.Met962=) | |
16 | g.9764815A>C | CA394709481 | GRIN2A | c.2729T>G (p.Met910Arg) c.2258T>G (p.Met753Arg) n.2322T>G c.*99T>G (n.*99T>G) c.2318T>G (p.Met773Arg) n.2368T>G c.2570T>G (p.Met857Arg) c.2471T>G (p.Met824Arg) c.2885T>G (p.Met962Arg) | dbSNP gnomAD v2 |
16 | g.9764815A>G | CA394709482 | GRIN2A | c.2729T>C (p.Met910Thr) c.2258T>C (p.Met753Thr) n.2322T>C c.*99T>C (n.*99T>C) c.2318T>C (p.Met773Thr) n.2368T>C c.2570T>C (p.Met857Thr) c.2471T>C (p.Met824Thr) c.2885T>C (p.Met962Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764815A>T | CA394709483 | GRIN2A | c.2729T>A (p.Met910Lys) c.2258T>A (p.Met753Lys) n.2322T>A c.*99T>A (n.*99T>A) c.2318T>A (p.Met773Lys) n.2368T>A c.2570T>A (p.Met857Lys) c.2471T>A (p.Met824Lys) c.2885T>A (p.Met962Lys) | dbSNP |
16 | g.9764816T>A | CA394709484 | GRIN2A | c.2728A>T (p.Met910Leu) c.2257A>T (p.Met753Leu) n.2321A>T c.*98A>T (n.*98A>T) c.2317A>T (p.Met773Leu) n.2367A>T c.2569A>T (p.Met857Leu) c.2470A>T (p.Met824Leu) c.2884A>T (p.Met962Leu) | |
16 | g.9764816T>C | CA394709486 | GRIN2A | c.2728A>G (p.Met910Val) c.2257A>G (p.Met753Val) n.2321A>G c.*98A>G (n.*98A>G) c.2317A>G (p.Met773Val) n.2367A>G c.2569A>G (p.Met857Val) c.2470A>G (p.Met824Val) c.2884A>G (p.Met962Val) | ClinVar dbSNP gnomAD v4 |
16 | g.9764816T>G | CA394709485 | GRIN2A | c.2728A>C (p.Met910Leu) c.2257A>C (p.Met753Leu) n.2321A>C c.*98A>C (n.*98A>C) c.2317A>C (p.Met773Leu) n.2367A>C c.2569A>C (p.Met857Leu) c.2470A>C (p.Met824Leu) c.2884A>C (p.Met962Leu) | |
16 | g.9764817G>A | CA493693547 | GRIN2A | c.2727C>T (p.Asn909=) c.2256C>T (p.Asn752=) n.2320C>T c.*97C>T (n.*97C>T) c.2316C>T (p.Asn772=) n.2366C>T c.2568C>T (p.Asn856=) c.2469C>T (p.Asn823=) c.2883C>T (p.Asn961=) | dbSNP |
16 | g.9764817G>C | CA394709487 | GRIN2A | c.2727C>G (p.Asn909Lys) c.2256C>G (p.Asn752Lys) n.2320C>G c.*97C>G (n.*97C>G) c.2316C>G (p.Asn772Lys) n.2366C>G c.2568C>G (p.Asn856Lys) c.2469C>G (p.Asn823Lys) c.2883C>G (p.Asn961Lys) | dbSNP |
16 | g.9764817G>T | CA394709488 | GRIN2A | c.2727C>A (p.Asn909Lys) c.2256C>A (p.Asn752Lys) n.2320C>A c.*97C>A (n.*97C>A) c.2316C>A (p.Asn772Lys) n.2366C>A c.2568C>A (p.Asn856Lys) c.2469C>A (p.Asn823Lys) c.2883C>A (p.Asn961Lys) | |
16 | g.9764818T>A | CA394709489 | GRIN2A | c.2726A>T (p.Asn909Ile) c.2255A>T (p.Asn752Ile) n.2319A>T c.*96A>T (n.*96A>T) c.2315A>T (p.Asn772Ile) n.2365A>T c.2567A>T (p.Asn856Ile) c.2468A>T (p.Asn823Ile) c.2882A>T (p.Asn961Ile) | dbSNP |
16 | g.9764818T>C | CA7896434 | GRIN2A | c.2726A>G (p.Asn909Ser) c.2255A>G (p.Asn752Ser) n.2319A>G c.*96A>G (n.*96A>G) c.2315A>G (p.Asn772Ser) n.2365A>G c.2567A>G (p.Asn856Ser) c.2468A>G (p.Asn823Ser) c.2882A>G (p.Asn961Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764818T>G | CA394709490 | GRIN2A | c.2726A>C (p.Asn909Thr) c.2255A>C (p.Asn752Thr) n.2319A>C c.*96A>C (n.*96A>C) c.2315A>C (p.Asn772Thr) n.2365A>C c.2567A>C (p.Asn856Thr) c.2468A>C (p.Asn823Thr) c.2882A>C (p.Asn961Thr) | |
16 | g.9764818T= | CA2206693433 | GRIN2A | c.2726A= (p.Asn909=) c.2255A= (p.Asn752=) n.2319A= c.*96A= (n.*96A=) c.2315A= (p.Asn772=) n.2365A= c.2567A= (p.Asn856=) c.2468A= (p.Asn823=) c.2882A= (p.Asn961=) | |
16 | g.9764819T>A | CA394709491 | GRIN2A | c.2725A>T (p.Asn909Tyr) c.2254A>T (p.Asn752Tyr) n.2318A>T c.*95A>T (n.*95A>T) c.2314A>T (p.Asn772Tyr) n.2364A>T c.2566A>T (p.Asn856Tyr) c.2467A>T (p.Asn823Tyr) c.2881A>T (p.Asn961Tyr) | |
16 | g.9764819T>C | CA394709492 | GRIN2A | c.2725A>G (p.Asn909Asp) c.2254A>G (p.Asn752Asp) n.2318A>G c.*95A>G (n.*95A>G) c.2314A>G (p.Asn772Asp) n.2364A>G c.2566A>G (p.Asn856Asp) c.2467A>G (p.Asn823Asp) c.2881A>G (p.Asn961Asp) | |
16 | g.9764819T>G | CA394709493 | GRIN2A | c.2725A>C (p.Asn909His) c.2254A>C (p.Asn752His) n.2318A>C c.*95A>C (n.*95A>C) c.2314A>C (p.Asn772His) n.2364A>C c.2566A>C (p.Asn856His) c.2467A>C (p.Asn823His) c.2881A>C (p.Asn961His) | |
16 | g.9764820G>A | CA493693549 | GRIN2A | c.2724C>T (p.Ser908=) c.2253C>T (p.Ser751=) n.2317C>T c.*94C>T (n.*94C>T) c.2313C>T (p.Ser771=) n.2363C>T c.2565C>T (p.Ser855=) c.2466C>T (p.Ser822=) c.2880C>T (p.Ser960=) | dbSNP gnomAD v4 |
16 | g.9764820G>C | CA493693552 | GRIN2A | c.2724C>G (p.Ser908=) c.2253C>G (p.Ser751=) n.2317C>G c.*94C>G (n.*94C>G) c.2313C>G (p.Ser771=) n.2363C>G c.2565C>G (p.Ser855=) c.2466C>G (p.Ser822=) c.2880C>G (p.Ser960=) | |
16 | g.9764820G>T | CA493693550 | GRIN2A | c.2724C>A (p.Ser908=) c.2253C>A (p.Ser751=) n.2317C>A c.*94C>A (n.*94C>A) c.2313C>A (p.Ser771=) n.2363C>A c.2565C>A (p.Ser855=) c.2466C>A (p.Ser822=) c.2880C>A (p.Ser960=) | dbSNP |
16 | g.9764821del | CA2731721707 | GRIN2A | c.2724del (p.Asn909ThrfsTer2) c.2253del (p.Asn752ThrfsTer2) n.2317del c.*94del (n.*94del) c.2313del (p.Asn772ThrfsTer2) n.2363del c.2565del (p.Asn856ThrfsTer2) c.2466del (p.Asn823ThrfsTer2) c.2880del (p.Asn961ThrfsTer2) | dbSNP |
16 | g.9764821G>A | CA394709494 | GRIN2A | c.2723C>T (p.Ser908Phe) c.2252C>T (p.Ser751Phe) n.2316C>T c.*93C>T (n.*93C>T) c.2312C>T (p.Ser771Phe) n.2362C>T c.2564C>T (p.Ser855Phe) c.2465C>T (p.Ser822Phe) c.2879C>T (p.Ser960Phe) | dbSNP |
16 | g.9764821G>C | CA394709495 | GRIN2A | c.2723C>G (p.Ser908Cys) c.2252C>G (p.Ser751Cys) n.2316C>G c.*93C>G (n.*93C>G) c.2312C>G (p.Ser771Cys) n.2362C>G c.2564C>G (p.Ser855Cys) c.2465C>G (p.Ser822Cys) c.2879C>G (p.Ser960Cys) | dbSNP |
16 | g.9764821G>T | CA394709496 | GRIN2A | c.2723C>A (p.Ser908Tyr) c.2252C>A (p.Ser751Tyr) n.2316C>A c.*93C>A (n.*93C>A) c.2312C>A (p.Ser771Tyr) n.2362C>A c.2564C>A (p.Ser855Tyr) c.2465C>A (p.Ser822Tyr) c.2879C>A (p.Ser960Tyr) | dbSNP gnomAD v4 |
16 | g.9764822A>C | CA394709498 | GRIN2A | c.2722T>G (p.Ser908Ala) c.2251T>G (p.Ser751Ala) n.2315T>G c.*92T>G (n.*92T>G) c.2311T>G (p.Ser771Ala) n.2361T>G c.2563T>G (p.Ser855Ala) c.2464T>G (p.Ser822Ala) c.2878T>G (p.Ser960Ala) | |
16 | g.9764822A>G | CA394709499 | GRIN2A | c.2722T>C (p.Ser908Pro) c.2251T>C (p.Ser751Pro) n.2315T>C c.*92T>C (n.*92T>C) c.2311T>C (p.Ser771Pro) n.2361T>C c.2563T>C (p.Ser855Pro) c.2464T>C (p.Ser822Pro) c.2878T>C (p.Ser960Pro) | dbSNP |
16 | g.9764822A>T | CA394709497 | GRIN2A | c.2722T>A (p.Ser908Thr) c.2251T>A (p.Ser751Thr) n.2315T>A c.*92T>A (n.*92T>A) c.2311T>A (p.Ser771Thr) n.2361T>A c.2563T>A (p.Ser855Thr) c.2464T>A (p.Ser822Thr) c.2878T>A (p.Ser960Thr) | dbSNP COSMIC |
16 | g.9764823C>A | CA394709500 | GRIN2A | c.2721G>T (p.Met907Ile) c.2250G>T (p.Met750Ile) n.2314G>T c.*91G>T (n.*91G>T) c.2310G>T (p.Met770Ile) n.2360G>T c.2562G>T (p.Met854Ile) c.2463G>T (p.Met821Ile) c.2877G>T (p.Met959Ile) | dbSNP |
16 | g.9764823C>G | CA394709501 | GRIN2A | c.2721G>C (p.Met907Ile) c.2250G>C (p.Met750Ile) n.2314G>C c.*91G>C (n.*91G>C) c.2310G>C (p.Met770Ile) n.2360G>C c.2562G>C (p.Met854Ile) c.2463G>C (p.Met821Ile) c.2877G>C (p.Met959Ile) | dbSNP |
16 | g.9764823C>T | CA394709502 | GRIN2A | c.2721G>A (p.Met907Ile) c.2250G>A (p.Met750Ile) n.2314G>A c.*91G>A (n.*91G>A) c.2310G>A (p.Met770Ile) n.2360G>A c.2562G>A (p.Met854Ile) c.2463G>A (p.Met821Ile) c.2877G>A (p.Met959Ile) | dbSNP COSMIC |
16 | g.9764824A>C | CA394709503 | GRIN2A | c.2720T>G (p.Met907Arg) c.2249T>G (p.Met750Arg) n.2313T>G c.*90T>G (n.*90T>G) c.2309T>G (p.Met770Arg) n.2359T>G c.2561T>G (p.Met854Arg) c.2462T>G (p.Met821Arg) c.2876T>G (p.Met959Arg) | gnomAD v4 |
16 | g.9764824A>G | CA394709504 | GRIN2A | c.2720T>C (p.Met907Thr) c.2249T>C (p.Met750Thr) n.2313T>C c.*90T>C (n.*90T>C) c.2309T>C (p.Met770Thr) n.2359T>C c.2561T>C (p.Met854Thr) c.2462T>C (p.Met821Thr) c.2876T>C (p.Met959Thr) | |
16 | g.9764824A>T | CA394709505 | GRIN2A | c.2720T>A (p.Met907Lys) c.2249T>A (p.Met750Lys) n.2313T>A c.*90T>A (n.*90T>A) c.2309T>A (p.Met770Lys) n.2359T>A c.2561T>A (p.Met854Lys) c.2462T>A (p.Met821Lys) c.2876T>A (p.Met959Lys) | |
16 | g.9764825T>A | CA394709508 | GRIN2A | c.2719A>T (p.Met907Leu) c.2248A>T (p.Met750Leu) n.2312A>T c.*89A>T (n.*89A>T) c.2308A>T (p.Met770Leu) n.2358A>T c.2560A>T (p.Met854Leu) c.2461A>T (p.Met821Leu) c.2875A>T (p.Met959Leu) | dbSNP |
16 | g.9764825T>C | CA394709506 | GRIN2A | c.2719A>G (p.Met907Val) c.2248A>G (p.Met750Val) n.2312A>G c.*89A>G (n.*89A>G) c.2308A>G (p.Met770Val) n.2358A>G c.2560A>G (p.Met854Val) c.2461A>G (p.Met821Val) c.2875A>G (p.Met959Val) | gnomAD v4 |
16 | g.9764825T>G | CA394709507 | GRIN2A | c.2719A>C (p.Met907Leu) c.2248A>C (p.Met750Leu) n.2312A>C c.*89A>C (n.*89A>C) c.2308A>C (p.Met770Leu) n.2358A>C c.2560A>C (p.Met854Leu) c.2461A>C (p.Met821Leu) c.2875A>C (p.Met959Leu) | |
16 | g.9764826G>A | CA493693558 | GRIN2A | c.2718C>T (p.Ser906=) c.2247C>T (p.Ser749=) n.2311C>T c.*88C>T (n.*88C>T) c.2307C>T (p.Ser769=) n.2357C>T c.2559C>T (p.Ser853=) c.2460C>T (p.Ser820=) c.2874C>T (p.Ser958=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764826G>C | CA394709509 | GRIN2A | c.2718C>G (p.Ser906Arg) c.2247C>G (p.Ser749Arg) n.2311C>G c.*88C>G (n.*88C>G) c.2307C>G (p.Ser769Arg) n.2357C>G c.2559C>G (p.Ser853Arg) c.2460C>G (p.Ser820Arg) c.2874C>G (p.Ser958Arg) | dbSNP |
16 | g.9764826G= | CA2206693434 | GRIN2A | c.2718C= (p.Ser906=) c.2247C= (p.Ser749=) n.2311C= c.*88C= (n.*88C=) c.2307C= (p.Ser769=) n.2357C= c.2559C= (p.Ser853=) c.2460C= (p.Ser820=) c.2874C= (p.Ser958=) | |
16 | g.9764826G>T | CA394709510 | GRIN2A | c.2718C>A (p.Ser906Arg) c.2247C>A (p.Ser749Arg) n.2311C>A c.*88C>A (n.*88C>A) c.2307C>A (p.Ser769Arg) n.2357C>A c.2559C>A (p.Ser853Arg) c.2460C>A (p.Ser820Arg) c.2874C>A (p.Ser958Arg) | |
16 | g.9764827C>A | CA7896435 | GRIN2A | c.2717G>T (p.Ser906Ile) c.2246G>T (p.Ser749Ile) n.2310G>T c.*87G>T (n.*87G>T) c.2306G>T (p.Ser769Ile) n.2356G>T c.2558G>T (p.Ser853Ile) c.2459G>T (p.Ser820Ile) c.2873G>T (p.Ser958Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764827C= | CA2206693435 | GRIN2A | c.2717G= (p.Ser906=) c.2246G= (p.Ser749=) n.2310G= c.*87G= (n.*87G=) c.2306G= (p.Ser769=) n.2356G= c.2558G= (p.Ser853=) c.2459G= (p.Ser820=) c.2873G= (p.Ser958=) | |
16 | g.9764827C>G | CA394709511 | GRIN2A | c.2717G>C (p.Ser906Thr) c.2246G>C (p.Ser749Thr) n.2310G>C c.*87G>C (n.*87G>C) c.2306G>C (p.Ser769Thr) n.2356G>C c.2558G>C (p.Ser853Thr) c.2459G>C (p.Ser820Thr) c.2873G>C (p.Ser958Thr) | dbSNP |
16 | g.9764827C>T | CA394709512 | GRIN2A | c.2717G>A (p.Ser906Asn) c.2246G>A (p.Ser749Asn) n.2310G>A c.*87G>A (n.*87G>A) c.2306G>A (p.Ser769Asn) n.2356G>A c.2558G>A (p.Ser853Asn) c.2459G>A (p.Ser820Asn) c.2873G>A (p.Ser958Asn) | dbSNP |
16 | g.9764828T>A | CA394709513 | GRIN2A | c.2716A>T (p.Ser906Cys) c.2245A>T (p.Ser749Cys) n.2309A>T c.*86A>T (n.*86A>T) c.2305A>T (p.Ser769Cys) n.2355A>T c.2557A>T (p.Ser853Cys) c.2458A>T (p.Ser820Cys) c.2872A>T (p.Ser958Cys) | |
16 | g.9764828T>C | CA394709515 | GRIN2A | c.2716A>G (p.Ser906Gly) c.2245A>G (p.Ser749Gly) n.2309A>G c.*86A>G (n.*86A>G) c.2305A>G (p.Ser769Gly) n.2355A>G c.2557A>G (p.Ser853Gly) c.2458A>G (p.Ser820Gly) c.2872A>G (p.Ser958Gly) | |
16 | g.9764828T>G | CA394709514 | GRIN2A | c.2716A>C (p.Ser906Arg) c.2245A>C (p.Ser749Arg) n.2309A>C c.*86A>C (n.*86A>C) c.2305A>C (p.Ser769Arg) n.2355A>C c.2557A>C (p.Ser853Arg) c.2458A>C (p.Ser820Arg) c.2872A>C (p.Ser958Arg) | |
16 | g.9764829G>A | CA493693561 | GRIN2A | c.2715C>T (p.Ser905=) c.2244C>T (p.Ser748=) n.2308C>T c.*85C>T (n.*85C>T) c.2304C>T (p.Ser768=) n.2354C>T c.2556C>T (p.Ser852=) c.2457C>T (p.Ser819=) c.2871C>T (p.Ser957=) | ClinVar dbSNP gnomAD v4 |
16 | g.9764829G>C | CA493693562 | GRIN2A | c.2715C>G (p.Ser905=) c.2244C>G (p.Ser748=) n.2308C>G c.*85C>G (n.*85C>G) c.2304C>G (p.Ser768=) n.2354C>G c.2556C>G (p.Ser852=) c.2457C>G (p.Ser819=) c.2871C>G (p.Ser957=) | |
16 | g.9764829G>T | CA493693563 | GRIN2A | c.2715C>A (p.Ser905=) c.2244C>A (p.Ser748=) n.2308C>A c.*85C>A (n.*85C>A) c.2304C>A (p.Ser768=) n.2354C>A c.2556C>A (p.Ser852=) c.2457C>A (p.Ser819=) c.2871C>A (p.Ser957=) | |
16 | g.9764830G>A | CA394709516 | GRIN2A | c.2714C>T (p.Ser905Phe) c.2243C>T (p.Ser748Phe) n.2307C>T c.*84C>T (n.*84C>T) c.2303C>T (p.Ser768Phe) n.2353C>T c.2555C>T (p.Ser852Phe) c.2456C>T (p.Ser819Phe) c.2870C>T (p.Ser957Phe) | COSMIC |
16 | g.9764830G>C | CA394709517 | GRIN2A | c.2714C>G (p.Ser905Cys) c.2243C>G (p.Ser748Cys) n.2307C>G c.*84C>G (n.*84C>G) c.2303C>G (p.Ser768Cys) n.2353C>G c.2555C>G (p.Ser852Cys) c.2456C>G (p.Ser819Cys) c.2870C>G (p.Ser957Cys) | |
16 | g.9764830G= | CA2206693436 | GRIN2A | c.2714C= (p.Ser905=) c.2243C= (p.Ser748=) n.2307C= c.*84C= (n.*84C=) c.2303C= (p.Ser768=) n.2353C= c.2555C= (p.Ser852=) c.2456C= (p.Ser819=) c.2870C= (p.Ser957=) | |
16 | g.9764830G>T | CA394709518 | GRIN2A | c.2714C>A (p.Ser905Tyr) c.2243C>A (p.Ser748Tyr) n.2307C>A c.*84C>A (n.*84C>A) c.2303C>A (p.Ser768Tyr) n.2353C>A c.2555C>A (p.Ser852Tyr) c.2456C>A (p.Ser819Tyr) c.2870C>A (p.Ser957Tyr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764831A= | CA2206693437 | GRIN2A | c.2713T= (p.Ser905=) c.2242T= (p.Ser748=) n.2306T= c.*83T= (n.*83T=) c.2302T= (p.Ser768=) n.2352T= c.2554T= (p.Ser852=) c.2455T= (p.Ser819=) c.2869T= (p.Ser957=) | |
16 | g.9764831A>C | CA394709519 | GRIN2A | c.2713T>G (p.Ser905Ala) c.2242T>G (p.Ser748Ala) n.2306T>G c.*83T>G (n.*83T>G) c.2302T>G (p.Ser768Ala) n.2352T>G c.2554T>G (p.Ser852Ala) c.2455T>G (p.Ser819Ala) c.2869T>G (p.Ser957Ala) | dbSNP |
16 | g.9764831A>G | CA394709520 | GRIN2A | c.2713T>C (p.Ser905Pro) c.2242T>C (p.Ser748Pro) n.2306T>C c.*83T>C (n.*83T>C) c.2302T>C (p.Ser768Pro) n.2352T>C c.2554T>C (p.Ser852Pro) c.2455T>C (p.Ser819Pro) c.2869T>C (p.Ser957Pro) | |
16 | g.9764831A>T | CA394709521 | GRIN2A | c.2713T>A (p.Ser905Thr) c.2242T>A (p.Ser748Thr) n.2306T>A c.*83T>A (n.*83T>A) c.2302T>A (p.Ser768Thr) n.2352T>A c.2554T>A (p.Ser852Thr) c.2455T>A (p.Ser819Thr) c.2869T>A (p.Ser957Thr) | dbSNP |
16 | g.9764832A= | CA2206693438 | GRIN2A | c.2712T= (p.Ile904=) c.2241T= (p.Ile747=) n.2305T= c.*82T= (n.*82T=) c.2301T= (p.Ile767=) n.2351T= c.2553T= (p.Ile851=) c.2454T= (p.Ile818=) c.2868T= (p.Ile956=) | |
16 | g.9764832A>C | CA394709522 | GRIN2A | c.2712T>G (p.Ile904Met) c.2241T>G (p.Ile747Met) n.2305T>G c.*82T>G (n.*82T>G) c.2301T>G (p.Ile767Met) n.2351T>G c.2553T>G (p.Ile851Met) c.2454T>G (p.Ile818Met) c.2868T>G (p.Ile956Met) | |
16 | g.9764832A>G | CA493693570 | GRIN2A | c.2712T>C (p.Ile904=) c.2241T>C (p.Ile747=) n.2305T>C c.*82T>C (n.*82T>C) c.2301T>C (p.Ile767=) n.2351T>C c.2553T>C (p.Ile851=) c.2454T>C (p.Ile818=) c.2868T>C (p.Ile956=) | |
16 | g.9764832A>T | CA493693572 | GRIN2A | c.2712T>A (p.Ile904=) c.2241T>A (p.Ile747=) n.2305T>A c.*82T>A (n.*82T>A) c.2301T>A (p.Ile767=) n.2351T>A c.2553T>A (p.Ile851=) c.2454T>A (p.Ile818=) c.2868T>A (p.Ile956=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764833A= | CA2206693439 | GRIN2A | c.2711T= (p.Ile904=) c.2240T= (p.Ile747=) n.2304T= c.*81T= (n.*81T=) c.2300T= (p.Ile767=) n.2350T= c.2552T= (p.Ile851=) c.2453T= (p.Ile818=) c.2867T= (p.Ile956=) | |
16 | g.9764833A>C | CA394709523 | GRIN2A | c.2711T>G (p.Ile904Ser) c.2240T>G (p.Ile747Ser) n.2304T>G c.*81T>G (n.*81T>G) c.2300T>G (p.Ile767Ser) n.2350T>G c.2552T>G (p.Ile851Ser) c.2453T>G (p.Ile818Ser) c.2867T>G (p.Ile956Ser) | dbSNP |
16 | g.9764833A>G | CA7896436 | GRIN2A | c.2711T>C (p.Ile904Thr) c.2240T>C (p.Ile747Thr) n.2304T>C c.*81T>C (n.*81T>C) c.2300T>C (p.Ile767Thr) n.2350T>C c.2552T>C (p.Ile851Thr) c.2453T>C (p.Ile818Thr) c.2867T>C (p.Ile956Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764833A>T | CA394709524 | GRIN2A | c.2711T>A (p.Ile904Asn) c.2240T>A (p.Ile747Asn) n.2304T>A c.*81T>A (n.*81T>A) c.2300T>A (p.Ile767Asn) n.2350T>A c.2552T>A (p.Ile851Asn) c.2453T>A (p.Ile818Asn) c.2867T>A (p.Ile956Asn) | |
16 | g.9764834T>A | CA394709525 | GRIN2A | c.2710A>T (p.Ile904Phe) c.2239A>T (p.Ile747Phe) n.2303A>T c.*80A>T (n.*80A>T) c.2299A>T (p.Ile767Phe) n.2349A>T c.2551A>T (p.Ile851Phe) c.2452A>T (p.Ile818Phe) c.2866A>T (p.Ile956Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.9764834T>C | CA394709526 | GRIN2A | c.2710A>G (p.Ile904Val) c.2239A>G (p.Ile747Val) n.2303A>G c.*80A>G (n.*80A>G) c.2299A>G (p.Ile767Val) n.2349A>G c.2551A>G (p.Ile851Val) c.2452A>G (p.Ile818Val) c.2866A>G (p.Ile956Val) | |
16 | g.9764834T>G | CA394709527 | GRIN2A | c.2710A>C (p.Ile904Leu) c.2239A>C (p.Ile747Leu) n.2303A>C c.*80A>C (n.*80A>C) c.2299A>C (p.Ile767Leu) n.2349A>C c.2551A>C (p.Ile851Leu) c.2452A>C (p.Ile818Leu) c.2866A>C (p.Ile956Leu) | dbSNP |
16 | g.9764834T= | CA2206693440 | GRIN2A | c.2710A= (p.Ile904=) c.2239A= (p.Ile747=) n.2303A= c.*80A= (n.*80A=) c.2299A= (p.Ile767=) n.2349A= c.2551A= (p.Ile851=) c.2452A= (p.Ile818=) c.2866A= (p.Ile956=) | |
16 | g.9764835G>A | CA493693574 | GRIN2A | c.2709C>T (p.Asn903=) c.2238C>T (p.Asn746=) n.2302C>T c.*79C>T (n.*79C>T) c.2298C>T (p.Asn766=) n.2348C>T c.2550C>T (p.Asn850=) c.2451C>T (p.Asn817=) c.2865C>T (p.Asn955=) | |
16 | g.9764835G>C | CA394709529 | GRIN2A | c.2709C>G (p.Asn903Lys) c.2238C>G (p.Asn746Lys) n.2302C>G c.*79C>G (n.*79C>G) c.2298C>G (p.Asn766Lys) n.2348C>G c.2550C>G (p.Asn850Lys) c.2451C>G (p.Asn817Lys) c.2865C>G (p.Asn955Lys) | |
16 | g.9764835G>T | CA394709528 | GRIN2A | c.2709C>A (p.Asn903Lys) c.2238C>A (p.Asn746Lys) n.2302C>A c.*79C>A (n.*79C>A) c.2298C>A (p.Asn766Lys) n.2348C>A c.2550C>A (p.Asn850Lys) c.2451C>A (p.Asn817Lys) c.2865C>A (p.Asn955Lys) | |
16 | g.9764836T>A | CA394709530 | GRIN2A | c.2708A>T (p.Asn903Ile) c.2237A>T (p.Asn746Ile) n.2301A>T c.*78A>T (n.*78A>T) c.2297A>T (p.Asn766Ile) n.2347A>T c.2549A>T (p.Asn850Ile) c.2450A>T (p.Asn817Ile) c.2864A>T (p.Asn955Ile) | |
16 | g.9764836T>C | CA394709532 | GRIN2A | c.2708A>G (p.Asn903Ser) c.2237A>G (p.Asn746Ser) n.2301A>G c.*78A>G (n.*78A>G) c.2297A>G (p.Asn766Ser) n.2347A>G c.2549A>G (p.Asn850Ser) c.2450A>G (p.Asn817Ser) c.2864A>G (p.Asn955Ser) | |
16 | g.9764836T>G | CA394709531 | GRIN2A | c.2708A>C (p.Asn903Thr) c.2237A>C (p.Asn746Thr) n.2301A>C c.*78A>C (n.*78A>C) c.2297A>C (p.Asn766Thr) n.2347A>C c.2549A>C (p.Asn850Thr) c.2450A>C (p.Asn817Thr) c.2864A>C (p.Asn955Thr) | |
16 | g.9764837T>A | CA394709533 | GRIN2A | c.2707A>T (p.Asn903Tyr) c.2236A>T (p.Asn746Tyr) n.2300A>T c.*77A>T (n.*77A>T) c.2296A>T (p.Asn766Tyr) n.2346A>T c.2548A>T (p.Asn850Tyr) c.2449A>T (p.Asn817Tyr) c.2863A>T (p.Asn955Tyr) | |
16 | g.9764837T>C | CA394709534 | GRIN2A | c.2707A>G (p.Asn903Asp) c.2236A>G (p.Asn746Asp) n.2300A>G c.*77A>G (n.*77A>G) c.2296A>G (p.Asn766Asp) n.2346A>G c.2548A>G (p.Asn850Asp) c.2449A>G (p.Asn817Asp) c.2863A>G (p.Asn955Asp) | |
16 | g.9764837T>G | CA394709535 | GRIN2A | c.2707A>C (p.Asn903His) c.2236A>C (p.Asn746His) n.2300A>C c.*77A>C (n.*77A>C) c.2296A>C (p.Asn766His) n.2346A>C c.2548A>C (p.Asn850His) c.2449A>C (p.Asn817His) c.2863A>C (p.Asn955His) | |
16 | g.9764838T>A | CA394709536 | GRIN2A | c.2706A>T (p.Lys902Asn) c.2235A>T (p.Lys745Asn) n.2299A>T c.*76A>T (n.*76A>T) c.2295A>T (p.Lys765Asn) n.2345A>T c.2547A>T (p.Lys849Asn) c.2448A>T (p.Lys816Asn) c.2862A>T (p.Lys954Asn) | |
16 | g.9764838T>C | CA493693577 | GRIN2A | c.2706A>G (p.Lys902=) c.2235A>G (p.Lys745=) n.2299A>G c.*76A>G (n.*76A>G) c.2295A>G (p.Lys765=) n.2345A>G c.2547A>G (p.Lys849=) c.2448A>G (p.Lys816=) c.2862A>G (p.Lys954=) | gnomAD v4 |
16 | g.9764838T>G | CA394709537 | GRIN2A | c.2706A>C (p.Lys902Asn) c.2235A>C (p.Lys745Asn) n.2299A>C c.*76A>C (n.*76A>C) c.2295A>C (p.Lys765Asn) n.2345A>C c.2547A>C (p.Lys849Asn) c.2448A>C (p.Lys816Asn) c.2862A>C (p.Lys954Asn) | dbSNP |
16 | g.9764839T>A | CA394709540 | GRIN2A | c.2705A>T (p.Lys902Ile) c.2234A>T (p.Lys745Ile) n.2298A>T c.*75A>T (n.*75A>T) c.2294A>T (p.Lys765Ile) n.2344A>T n.488A>T c.2546A>T (p.Lys849Ile) c.2447A>T (p.Lys816Ile) c.2861A>T (p.Lys954Ile) | dbSNP |
16 | g.9764839T>C | CA394709539 | GRIN2A | c.2705A>G (p.Lys902Arg) c.2234A>G (p.Lys745Arg) n.2298A>G c.*75A>G (n.*75A>G) c.2294A>G (p.Lys765Arg) n.2344A>G n.488A>G c.2546A>G (p.Lys849Arg) c.2447A>G (p.Lys816Arg) c.2861A>G (p.Lys954Arg) | dbSNP gnomAD v4 |
16 | g.9764839T>G | CA394709538 | GRIN2A | c.2705A>C (p.Lys902Thr) c.2234A>C (p.Lys745Thr) n.2298A>C c.*75A>C (n.*75A>C) c.2294A>C (p.Lys765Thr) n.2344A>C n.488A>C c.2546A>C (p.Lys849Thr) c.2447A>C (p.Lys816Thr) c.2861A>C (p.Lys954Thr) | |
16 | g.9764839T= | CA2206693441 | GRIN2A | c.2705A= (p.Lys902=) c.2234A= (p.Lys745=) n.2298A= c.*75A= (n.*75A=) c.2294A= (p.Lys765=) n.2344A= n.488A= c.2546A= (p.Lys849=) c.2447A= (p.Lys816=) c.2861A= (p.Lys954=) | |
16 | g.9764840T>A | CA394709541 | GRIN2A | c.2704A>T (p.Lys902Ter) c.2233A>T (p.Lys745Ter) n.2297A>T c.*74A>T (n.*74A>T) c.2293A>T (p.Lys765Ter) n.2343A>T n.487A>T c.2545A>T (p.Lys849Ter) c.2446A>T (p.Lys816Ter) c.2860A>T (p.Lys954Ter) | dbSNP |
16 | g.9764840T>C | CA394709542 | GRIN2A | c.2704A>G (p.Lys902Glu) c.2233A>G (p.Lys745Glu) n.2297A>G c.*74A>G (n.*74A>G) c.2293A>G (p.Lys765Glu) n.2343A>G n.487A>G c.2545A>G (p.Lys849Glu) c.2446A>G (p.Lys816Glu) c.2860A>G (p.Lys954Glu) | |
16 | g.9764840T>G | CA394709543 | GRIN2A | c.2704A>C (p.Lys902Gln) c.2233A>C (p.Lys745Gln) n.2297A>C c.*74A>C (n.*74A>C) c.2293A>C (p.Lys765Gln) n.2343A>C n.487A>C c.2545A>C (p.Lys849Gln) c.2446A>C (p.Lys816Gln) c.2860A>C (p.Lys954Gln) | |
16 | g.9764840T= | CA2206693442 | GRIN2A | c.2704A= (p.Lys902=) c.2233A= (p.Lys745=) n.2297A= c.*74A= (n.*74A=) c.2293A= (p.Lys765=) n.2343A= n.487A= c.2545A= (p.Lys849=) c.2446A= (p.Lys816=) c.2860A= (p.Lys954=) | |
16 | g.9764841G>A | CA493693583 | GRIN2A | c.2703C>T (p.Ala901=) c.2232C>T (p.Ala744=) n.2296C>T c.*73C>T (n.*73C>T) c.2292C>T (p.Ala764=) n.2342C>T n.486C>T c.2544C>T (p.Ala848=) c.2445C>T (p.Ala815=) c.2859C>T (p.Ala953=) | dbSNP |
16 | g.9764841G>C | CA493693585 | GRIN2A | c.2703C>G (p.Ala901=) c.2232C>G (p.Ala744=) n.2296C>G c.*73C>G (n.*73C>G) c.2292C>G (p.Ala764=) n.2342C>G n.486C>G c.2544C>G (p.Ala848=) c.2445C>G (p.Ala815=) c.2859C>G (p.Ala953=) | dbSNP |
16 | g.9764841G>T | CA493693586 | GRIN2A | c.2703C>A (p.Ala901=) c.2232C>A (p.Ala744=) n.2296C>A c.*73C>A (n.*73C>A) c.2292C>A (p.Ala764=) n.2342C>A n.486C>A c.2544C>A (p.Ala848=) c.2445C>A (p.Ala815=) c.2859C>A (p.Ala953=) | dbSNP |
16 | g.9764842G>A | CA394709544 | GRIN2A | c.2702C>T (p.Ala901Val) c.2231C>T (p.Ala744Val) n.2295C>T c.*72C>T (n.*72C>T) c.2291C>T (p.Ala764Val) n.2341C>T n.485C>T c.2543C>T (p.Ala848Val) c.2444C>T (p.Ala815Val) c.2858C>T (p.Ala953Val) | dbSNP |
16 | g.9764842G>C | CA394709545 | GRIN2A | c.2702C>G (p.Ala901Gly) c.2231C>G (p.Ala744Gly) n.2295C>G c.*72C>G (n.*72C>G) c.2291C>G (p.Ala764Gly) n.2341C>G n.485C>G c.2543C>G (p.Ala848Gly) c.2444C>G (p.Ala815Gly) c.2858C>G (p.Ala953Gly) | dbSNP |
16 | g.9764842G>T | CA394709546 | GRIN2A | c.2702C>A (p.Ala901Asp) c.2231C>A (p.Ala744Asp) n.2295C>A c.*72C>A (n.*72C>A) c.2291C>A (p.Ala764Asp) n.2341C>A n.485C>A c.2543C>A (p.Ala848Asp) c.2444C>A (p.Ala815Asp) c.2858C>A (p.Ala953Asp) | dbSNP |
16 | g.9764843C>A | CA394709547 | GRIN2A | c.2701G>T (p.Ala901Ser) c.2230G>T (p.Ala744Ser) n.2294G>T c.*71G>T (n.*71G>T) c.2290G>T (p.Ala764Ser) n.2340G>T n.484G>T c.2542G>T (p.Ala848Ser) c.2443G>T (p.Ala815Ser) c.2857G>T (p.Ala953Ser) | |
16 | g.9764843C= | CA2206693443 | GRIN2A | c.2701G= (p.Ala901=) c.2230G= (p.Ala744=) n.2294G= c.*71G= (n.*71G=) c.2290G= (p.Ala764=) n.2340G= n.484G= c.2542G= (p.Ala848=) c.2443G= (p.Ala815=) c.2857G= (p.Ala953=) | |
16 | g.9764843C>G | CA394709548 | GRIN2A | c.2701G>C (p.Ala901Pro) c.2230G>C (p.Ala744Pro) n.2294G>C c.*71G>C (n.*71G>C) c.2290G>C (p.Ala764Pro) n.2340G>C n.484G>C c.2542G>C (p.Ala848Pro) c.2443G>C (p.Ala815Pro) c.2857G>C (p.Ala953Pro) | dbSNP |
16 | g.9764843C>T | CA7896437 | GRIN2A | c.2701G>A (p.Ala901Thr) c.2230G>A (p.Ala744Thr) n.2294G>A c.*71G>A (n.*71G>A) c.2290G>A (p.Ala764Thr) n.2340G>A n.484G>A c.2542G>A (p.Ala848Thr) c.2443G>A (p.Ala815Thr) c.2857G>A (p.Ala953Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764844T>A | CA493693588 | GRIN2A | c.2700A>T (p.Ser900=) c.2229A>T (p.Ser743=) n.2293A>T c.*70A>T (n.*70A>T) c.2289A>T (p.Ser763=) n.2339A>T n.483A>T c.2541A>T (p.Ser847=) c.2442A>T (p.Ser814=) c.2856A>T (p.Ser952=) | dbSNP |
16 | g.9764844T>C | CA493693589 | GRIN2A | c.2700A>G (p.Ser900=) c.2229A>G (p.Ser743=) n.2293A>G c.*70A>G (n.*70A>G) c.2289A>G (p.Ser763=) n.2339A>G n.483A>G c.2541A>G (p.Ser847=) c.2442A>G (p.Ser814=) c.2856A>G (p.Ser952=) | |
16 | g.9764844T>G | CA493693590 | GRIN2A | c.2700A>C (p.Ser900=) c.2229A>C (p.Ser743=) n.2293A>C c.*70A>C (n.*70A>C) c.2289A>C (p.Ser763=) n.2339A>C n.483A>C c.2541A>C (p.Ser847=) c.2442A>C (p.Ser814=) c.2856A>C (p.Ser952=) | dbSNP |
16 | g.9764845G>A | CA394709549 | GRIN2A | c.2699C>T (p.Ser900Leu) c.2228C>T (p.Ser743Leu) n.2292C>T c.*69C>T (n.*69C>T) c.2288C>T (p.Ser763Leu) n.2338C>T n.482C>T c.2540C>T (p.Ser847Leu) c.2441C>T (p.Ser814Leu) c.2855C>T (p.Ser952Leu) | dbSNP |
16 | g.9764845G>C | CA394709550 | GRIN2A | c.2699C>G (p.Ser900Ter) c.2228C>G (p.Ser743Ter) n.2292C>G c.*69C>G (n.*69C>G) c.2288C>G (p.Ser763Ter) n.2338C>G n.482C>G c.2540C>G (p.Ser847Ter) c.2441C>G (p.Ser814Ter) c.2855C>G (p.Ser952Ter) | dbSNP |
16 | g.9764845G>T | CA394709551 | GRIN2A | c.2699C>A (p.Ser900Ter) c.2228C>A (p.Ser743Ter) n.2292C>A c.*69C>A (n.*69C>A) c.2288C>A (p.Ser763Ter) n.2338C>A n.482C>A c.2540C>A (p.Ser847Ter) c.2441C>A (p.Ser814Ter) c.2855C>A (p.Ser952Ter) | gnomAD v4 |
16 | g.9764846A= | CA2206693444 | GRIN2A | c.2698T= (p.Ser900=) c.2227T= (p.Ser743=) n.2291T= c.*68T= (n.*68T=) c.2287T= (p.Ser763=) n.2337T= n.481T= c.2539T= (p.Ser847=) c.2440T= (p.Ser814=) c.2854T= (p.Ser952=) | |
16 | g.9764846A>C | CA394709552 | GRIN2A | c.2698T>G (p.Ser900Ala) c.2227T>G (p.Ser743Ala) n.2291T>G c.*68T>G (n.*68T>G) c.2287T>G (p.Ser763Ala) n.2337T>G n.481T>G c.2539T>G (p.Ser847Ala) c.2440T>G (p.Ser814Ala) c.2854T>G (p.Ser952Ala) | |
16 | g.9764846A>G | CA394709553 | GRIN2A | c.2698T>C (p.Ser900Pro) c.2227T>C (p.Ser743Pro) n.2291T>C c.*68T>C (n.*68T>C) c.2287T>C (p.Ser763Pro) n.2337T>C n.481T>C c.2539T>C (p.Ser847Pro) c.2440T>C (p.Ser814Pro) c.2854T>C (p.Ser952Pro) | ClinVar dbSNP |
16 | g.9764846A>T | CA394709554 | GRIN2A | c.2698T>A (p.Ser900Thr) c.2227T>A (p.Ser743Thr) n.2291T>A c.*68T>A (n.*68T>A) c.2287T>A (p.Ser763Thr) n.2337T>A n.481T>A c.2539T>A (p.Ser847Thr) c.2440T>A (p.Ser814Thr) c.2854T>A (p.Ser952Thr) | |
16 | g.9764847C>A | CA493693592 | GRIN2A | c.2697G>T (p.Arg899=) c.2226G>T (p.Arg742=) n.2290G>T c.*67G>T (n.*67G>T) c.2286G>T (p.Arg762=) n.2336G>T n.480G>T c.2538G>T (p.Arg846=) c.2439G>T (p.Arg813=) c.2853G>T (p.Arg951=) | |
16 | g.9764847C= | CA2206693445 | GRIN2A | c.2697G= (p.Arg899=) c.2226G= (p.Arg742=) n.2290G= c.*67G= (n.*67G=) c.2286G= (p.Arg762=) n.2336G= n.480G= c.2538G= (p.Arg846=) c.2439G= (p.Arg813=) c.2853G= (p.Arg951=) | |
16 | g.9764847C>G | CA493693593 | GRIN2A | c.2697G>C (p.Arg899=) c.2226G>C (p.Arg742=) n.2290G>C c.*67G>C (n.*67G>C) c.2286G>C (p.Arg762=) n.2336G>C n.480G>C c.2538G>C (p.Arg846=) c.2439G>C (p.Arg813=) c.2853G>C (p.Arg951=) | |
16 | g.9764847C>T | CA493693594 | GRIN2A | c.2697G>A (p.Arg899=) c.2226G>A (p.Arg742=) n.2290G>A c.*67G>A (n.*67G>A) c.2286G>A (p.Arg762=) n.2336G>A n.480G>A c.2538G>A (p.Arg846=) c.2439G>A (p.Arg813=) c.2853G>A (p.Arg951=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764848C>A | CA394709555 | GRIN2A | c.2696G>T (p.Arg899Leu) c.2225G>T (p.Arg742Leu) n.2289G>T c.*66G>T (n.*66G>T) c.2285G>T (p.Arg762Leu) n.2335G>T n.479G>T c.2537G>T (p.Arg846Leu) c.2438G>T (p.Arg813Leu) c.2852G>T (p.Arg951Leu) | |
16 | g.9764848C= | CA2206693446 | GRIN2A | c.2696G= (p.Arg899=) c.2225G= (p.Arg742=) n.2289G= c.*66G= (n.*66G=) c.2285G= (p.Arg762=) n.2335G= n.479G= c.2537G= (p.Arg846=) c.2438G= (p.Arg813=) c.2852G= (p.Arg951=) | |
16 | g.9764848C>G | CA394709556 | GRIN2A | c.2696G>C (p.Arg899Pro) c.2225G>C (p.Arg742Pro) n.2289G>C c.*66G>C (n.*66G>C) c.2285G>C (p.Arg762Pro) n.2335G>C n.479G>C c.2537G>C (p.Arg846Pro) c.2438G>C (p.Arg813Pro) c.2852G>C (p.Arg951Pro) | ClinVar |
16 | g.9764848C>T | CA7896438 | GRIN2A | c.2696G>A (p.Arg899Gln) c.2225G>A (p.Arg742Gln) n.2289G>A c.*66G>A (n.*66G>A) c.2285G>A (p.Arg762Gln) n.2335G>A n.479G>A c.2537G>A (p.Arg846Gln) c.2438G>A (p.Arg813Gln) c.2852G>A (p.Arg951Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764849G>A | CA314954 | GRIN2A | c.2695C>T (p.Arg899Trp) c.2224C>T (p.Arg742Trp) n.2288C>T c.*65C>T (n.*65C>T) c.2284C>T (p.Arg762Trp) n.2334C>T n.478C>T c.2536C>T (p.Arg846Trp) c.2437C>T (p.Arg813Trp) c.2851C>T (p.Arg951Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764849G>C | CA394709557 | GRIN2A | c.2695C>G (p.Arg899Gly) c.2224C>G (p.Arg742Gly) n.2288C>G c.*65C>G (n.*65C>G) c.2284C>G (p.Arg762Gly) n.2334C>G n.478C>G c.2536C>G (p.Arg846Gly) c.2437C>G (p.Arg813Gly) c.2851C>G (p.Arg951Gly) | dbSNP |
16 | g.9764849G= | CA2206693447 | GRIN2A | c.2695C= (p.Arg899=) c.2224C= (p.Arg742=) n.2288C= c.*65C= (n.*65C=) c.2284C= (p.Arg762=) n.2334C= n.478C= c.2536C= (p.Arg846=) c.2437C= (p.Arg813=) c.2851C= (p.Arg951=) | |
16 | g.9764849G>T | CA493693597 | GRIN2A | c.2695C>A (p.Arg899=) c.2224C>A (p.Arg742=) n.2288C>A c.*65C>A (n.*65C>A) c.2284C>A (p.Arg762=) n.2334C>A n.478C>A c.2536C>A (p.Arg846=) c.2437C>A (p.Arg813=) c.2851C>A (p.Arg951=) | ClinVar dbSNP gnomAD v4 |
16 | g.9764850G>A | CA291124 | GRIN2A | c.2694C>T (p.Leu898=) c.2223C>T (p.Leu741=) n.2287C>T c.*64C>T (n.*64C>T) c.2283C>T (p.Leu761=) n.2333C>T n.477C>T c.2535C>T (p.Leu845=) c.2436C>T (p.Leu812=) c.2850C>T (p.Leu950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764850G>C | CA493693599 | GRIN2A | c.2694C>G (p.Leu898=) c.2223C>G (p.Leu741=) n.2287C>G c.*64C>G (n.*64C>G) c.2283C>G (p.Leu761=) n.2333C>G n.477C>G c.2535C>G (p.Leu845=) c.2436C>G (p.Leu812=) c.2850C>G (p.Leu950=) | dbSNP |
16 | g.9764850G= | CA2206693448 | GRIN2A | c.2694C= (p.Leu898=) c.2223C= (p.Leu741=) n.2287C= c.*64C= (n.*64C=) c.2283C= (p.Leu761=) n.2333C= n.477C= c.2535C= (p.Leu845=) c.2436C= (p.Leu812=) c.2850C= (p.Leu950=) | |
16 | g.9764850G>T | CA493693598 | GRIN2A | c.2694C>A (p.Leu898=) c.2223C>A (p.Leu741=) n.2287C>A c.*64C>A (n.*64C>A) c.2283C>A (p.Leu761=) n.2333C>A n.477C>A c.2535C>A (p.Leu845=) c.2436C>A (p.Leu812=) c.2850C>A (p.Leu950=) | dbSNP |
16 | g.9764851A>C | CA394709560 | GRIN2A | c.2693T>G (p.Leu898Arg) c.2222T>G (p.Leu741Arg) n.2286T>G c.*63T>G (n.*63T>G) c.2282T>G (p.Leu761Arg) n.2332T>G n.476T>G c.2534T>G (p.Leu845Arg) c.2435T>G (p.Leu812Arg) c.2849T>G (p.Leu950Arg) | |
16 | g.9764851A>G | CA394709558 | GRIN2A | c.2693T>C (p.Leu898Pro) c.2222T>C (p.Leu741Pro) n.2286T>C c.*63T>C (n.*63T>C) c.2282T>C (p.Leu761Pro) n.2332T>C n.476T>C c.2534T>C (p.Leu845Pro) c.2435T>C (p.Leu812Pro) c.2849T>C (p.Leu950Pro) | |
16 | g.9764851A>T | CA394709559 | GRIN2A | c.2693T>A (p.Leu898His) c.2222T>A (p.Leu741His) n.2286T>A c.*63T>A (n.*63T>A) c.2282T>A (p.Leu761His) n.2332T>A n.476T>A c.2534T>A (p.Leu845His) c.2435T>A (p.Leu812His) c.2849T>A (p.Leu950His) | dbSNP |
16 | g.9764852G>A | CA394709561 | GRIN2A | c.2692C>T (p.Leu898Phe) c.2221C>T (p.Leu741Phe) n.2285C>T c.*62C>T (n.*62C>T) c.2281C>T (p.Leu761Phe) n.2331C>T n.475C>T c.2533C>T (p.Leu845Phe) c.2434C>T (p.Leu812Phe) c.2848C>T (p.Leu950Phe) | dbSNP gnomAD v4 |
16 | g.9764852G>C | CA394709562 | GRIN2A | c.2692C>G (p.Leu898Val) c.2221C>G (p.Leu741Val) n.2285C>G c.*62C>G (n.*62C>G) c.2281C>G (p.Leu761Val) n.2331C>G n.475C>G c.2533C>G (p.Leu845Val) c.2434C>G (p.Leu812Val) c.2848C>G (p.Leu950Val) | dbSNP |
16 | g.9764852G= | CA2206693449 | GRIN2A | c.2692C= (p.Leu898=) c.2221C= (p.Leu741=) n.2285C= c.*62C= (n.*62C=) c.2281C= (p.Leu761=) n.2331C= n.475C= c.2533C= (p.Leu845=) c.2434C= (p.Leu812=) c.2848C= (p.Leu950=) | |
16 | g.9764852G>T | CA394709563 | GRIN2A | c.2692C>A (p.Leu898Ile) c.2221C>A (p.Leu741Ile) n.2285C>A c.*62C>A (n.*62C>A) c.2281C>A (p.Leu761Ile) n.2331C>A n.475C>A c.2533C>A (p.Leu845Ile) c.2434C>A (p.Leu812Ile) c.2848C>A (p.Leu950Ile) | |
16 | g.9764853G>A | CA493693604 | GRIN2A | c.2691C>T (p.Leu897=) c.2220C>T (p.Leu740=) n.2284C>T c.*61C>T (n.*61C>T) c.2280C>T (p.Leu760=) n.2330C>T n.474C>T c.2532C>T (p.Leu844=) c.2433C>T (p.Leu811=) c.2847C>T (p.Leu949=) | dbSNP COSMIC |
16 | g.9764853G>C | CA493693605 | GRIN2A | c.2691C>G (p.Leu897=) c.2220C>G (p.Leu740=) n.2284C>G c.*61C>G (n.*61C>G) c.2280C>G (p.Leu760=) n.2330C>G n.474C>G c.2532C>G (p.Leu844=) c.2433C>G (p.Leu811=) c.2847C>G (p.Leu949=) | dbSNP |
16 | g.9764853G>T | CA493693606 | GRIN2A | c.2691C>A (p.Leu897=) c.2220C>A (p.Leu740=) n.2284C>A c.*61C>A (n.*61C>A) c.2280C>A (p.Leu760=) n.2330C>A n.474C>A c.2532C>A (p.Leu844=) c.2433C>A (p.Leu811=) c.2847C>A (p.Leu949=) | |
16 | g.9764854A= | CA2206693450 | GRIN2A | c.2690T= (p.Leu897=) c.2219T= (p.Leu740=) n.2283T= c.*60T= (n.*60T=) c.2279T= (p.Leu760=) n.2329T= n.473T= c.2531T= (p.Leu844=) c.2432T= (p.Leu811=) c.2846T= (p.Leu949=) | |
16 | g.9764854A>C | CA394709564 | GRIN2A | c.2690T>G (p.Leu897Arg) c.2219T>G (p.Leu740Arg) n.2283T>G c.*60T>G (n.*60T>G) c.2279T>G (p.Leu760Arg) n.2329T>G n.473T>G c.2531T>G (p.Leu844Arg) c.2432T>G (p.Leu811Arg) c.2846T>G (p.Leu949Arg) | |
16 | g.9764854A>G | CA277538662 | GRIN2A | c.2690T>C (p.Leu897Pro) c.2219T>C (p.Leu740Pro) n.2283T>C c.*60T>C (n.*60T>C) c.2279T>C (p.Leu760Pro) n.2329T>C n.473T>C c.2531T>C (p.Leu844Pro) c.2432T>C (p.Leu811Pro) c.2846T>C (p.Leu949Pro) | dbSNP gnomAD v4 |
16 | g.9764854A>T | CA394709565 | GRIN2A | c.2690T>A (p.Leu897His) c.2219T>A (p.Leu740His) n.2283T>A c.*60T>A (n.*60T>A) c.2279T>A (p.Leu760His) n.2329T>A n.473T>A c.2531T>A (p.Leu844His) c.2432T>A (p.Leu811His) c.2846T>A (p.Leu949His) | dbSNP |
16 | g.9764855G>A | CA394709566 | GRIN2A | c.2689C>T (p.Leu897Phe) c.2218C>T (p.Leu740Phe) n.2282C>T c.*59C>T (n.*59C>T) c.2278C>T (p.Leu760Phe) n.2328C>T n.472C>T c.2530C>T (p.Leu844Phe) c.2431C>T (p.Leu811Phe) c.2845C>T (p.Leu949Phe) | gnomAD v4 |
16 | g.9764855G>C | CA394709567 | GRIN2A | c.2689C>G (p.Leu897Val) c.2218C>G (p.Leu740Val) n.2282C>G c.*59C>G (n.*59C>G) c.2278C>G (p.Leu760Val) n.2328C>G n.472C>G c.2530C>G (p.Leu844Val) c.2431C>G (p.Leu811Val) c.2845C>G (p.Leu949Val) | |
16 | g.9764855G>T | CA394709568 | GRIN2A | c.2689C>A (p.Leu897Ile) c.2218C>A (p.Leu740Ile) n.2282C>A c.*59C>A (n.*59C>A) c.2278C>A (p.Leu760Ile) n.2328C>A n.472C>A c.2530C>A (p.Leu844Ile) c.2431C>A (p.Leu811Ile) c.2845C>A (p.Leu949Ile) | |
16 | g.9764856T>A | CA394709569 | GRIN2A | c.2688A>T (p.Lys896Asn) c.2217A>T (p.Lys739Asn) n.2281A>T c.*58A>T (n.*58A>T) c.2277A>T (p.Lys759Asn) n.2327A>T n.471A>T c.2529A>T (p.Lys843Asn) c.2430A>T (p.Lys810Asn) c.2844A>T (p.Lys948Asn) | dbSNP COSMIC |
16 | g.9764856T>C | CA493693609 | GRIN2A | c.2688A>G (p.Lys896=) c.2217A>G (p.Lys739=) n.2281A>G c.*58A>G (n.*58A>G) c.2277A>G (p.Lys759=) n.2327A>G n.471A>G c.2529A>G (p.Lys843=) c.2430A>G (p.Lys810=) c.2844A>G (p.Lys948=) | dbSNP |
16 | g.9764856T>G | CA394709570 | GRIN2A | c.2688A>C (p.Lys896Asn) c.2217A>C (p.Lys739Asn) n.2281A>C c.*58A>C (n.*58A>C) c.2277A>C (p.Lys759Asn) n.2327A>C n.471A>C c.2529A>C (p.Lys843Asn) c.2430A>C (p.Lys810Asn) c.2844A>C (p.Lys948Asn) | |
16 | g.9764859del | CA2631676294 | GRIN2A | c.2688del (p.Lys896AsnfsTer15) c.2217del (p.Lys739AsnfsTer15) n.2281del c.*58del (n.*58del) c.2277del (p.Lys759AsnfsTer15) n.2327del n.471del c.2529del (p.Lys843AsnfsTer15) c.2430del (p.Lys810AsnfsTer15) c.2844del (p.Lys948AsnfsTer15) | gnomAD v4 |
16 | g.9764857T>A | CA394709572 | GRIN2A | c.2687A>T (p.Lys896Ile) c.2216A>T (p.Lys739Ile) n.2280A>T c.*57A>T (n.*57A>T) c.2276A>T (p.Lys759Ile) n.2326A>T n.470A>T c.2528A>T (p.Lys843Ile) c.2429A>T (p.Lys810Ile) c.2843A>T (p.Lys948Ile) | |
16 | g.9764857T>C | CA394709573 | GRIN2A | c.2687A>G (p.Lys896Arg) c.2216A>G (p.Lys739Arg) n.2280A>G c.*57A>G (n.*57A>G) c.2276A>G (p.Lys759Arg) n.2326A>G n.470A>G c.2528A>G (p.Lys843Arg) c.2429A>G (p.Lys810Arg) c.2843A>G (p.Lys948Arg) | |
16 | g.9764857T>G | CA394709571 | GRIN2A | c.2687A>C (p.Lys896Thr) c.2216A>C (p.Lys739Thr) n.2280A>C c.*57A>C (n.*57A>C) c.2276A>C (p.Lys759Thr) n.2326A>C n.470A>C c.2528A>C (p.Lys843Thr) c.2429A>C (p.Lys810Thr) c.2843A>C (p.Lys948Thr) | dbSNP |
16 | g.9764858T>A | CA394709574 | GRIN2A | c.2686A>T (p.Lys896Ter) c.2215A>T (p.Lys739Ter) n.2279A>T c.*56A>T (n.*56A>T) c.2275A>T (p.Lys759Ter) n.2325A>T n.469A>T c.2527A>T (p.Lys843Ter) c.2428A>T (p.Lys810Ter) c.2842A>T (p.Lys948Ter) | dbSNP |
16 | g.9764858T>C | CA394709575 | GRIN2A | c.2686A>G (p.Lys896Glu) c.2215A>G (p.Lys739Glu) n.2279A>G c.*56A>G (n.*56A>G) c.2275A>G (p.Lys759Glu) n.2325A>G n.469A>G c.2527A>G (p.Lys843Glu) c.2428A>G (p.Lys810Glu) c.2842A>G (p.Lys948Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764858T>G | CA394709576 | GRIN2A | c.2686A>C (p.Lys896Gln) c.2215A>C (p.Lys739Gln) n.2279A>C c.*56A>C (n.*56A>C) c.2275A>C (p.Lys759Gln) n.2325A>C n.469A>C c.2527A>C (p.Lys843Gln) c.2428A>C (p.Lys810Gln) c.2842A>C (p.Lys948Gln) | |
16 | g.9764858T= | CA2206693451 | GRIN2A | c.2686A= (p.Lys896=) c.2215A= (p.Lys739=) n.2279A= c.*56A= (n.*56A=) c.2275A= (p.Lys759=) n.2325A= n.469A= c.2527A= (p.Lys843=) c.2428A= (p.Lys810=) c.2842A= (p.Lys948=) | |
16 | g.9764859T>A | CA394709577 | GRIN2A | c.2685A>T (p.Leu895Phe) c.2214A>T (p.Leu738Phe) n.2278A>T c.*55A>T (n.*55A>T) c.2274A>T (p.Leu758Phe) n.2324A>T n.468A>T c.2526A>T (p.Leu842Phe) c.2427A>T (p.Leu809Phe) c.2841A>T (p.Leu947Phe) | dbSNP |
16 | g.9764859T>C | CA493693610 | GRIN2A | c.2685A>G (p.Leu895=) c.2214A>G (p.Leu738=) n.2278A>G c.*55A>G (n.*55A>G) c.2274A>G (p.Leu758=) n.2324A>G n.468A>G c.2526A>G (p.Leu842=) c.2427A>G (p.Leu809=) c.2841A>G (p.Leu947=) | |
16 | g.9764859T>G | CA394709578 | GRIN2A | c.2685A>C (p.Leu895Phe) c.2214A>C (p.Leu738Phe) n.2278A>C c.*55A>C (n.*55A>C) c.2274A>C (p.Leu758Phe) n.2324A>C n.468A>C c.2526A>C (p.Leu842Phe) c.2427A>C (p.Leu809Phe) c.2841A>C (p.Leu947Phe) | |
16 | g.9764860A>C | CA394709581 | GRIN2A | c.2684T>G (p.Leu895Ter) c.2213T>G (p.Leu738Ter) n.2277T>G c.*54T>G (n.*54T>G) c.2273T>G (p.Leu758Ter) n.2323T>G n.467T>G c.2525T>G (p.Leu842Ter) c.2426T>G (p.Leu809Ter) c.2840T>G (p.Leu947Ter) | |
16 | g.9764860A>G | CA394709579 | GRIN2A | c.2684T>C (p.Leu895Ser) c.2213T>C (p.Leu738Ser) n.2277T>C c.*54T>C (n.*54T>C) c.2273T>C (p.Leu758Ser) n.2323T>C n.467T>C c.2525T>C (p.Leu842Ser) c.2426T>C (p.Leu809Ser) c.2840T>C (p.Leu947Ser) | |
16 | g.9764860A>T | CA394709580 | GRIN2A | c.2684T>A (p.Leu895Ter) c.2213T>A (p.Leu738Ter) n.2277T>A c.*54T>A (n.*54T>A) c.2273T>A (p.Leu758Ter) n.2323T>A n.467T>A c.2525T>A (p.Leu842Ter) c.2426T>A (p.Leu809Ter) c.2840T>A (p.Leu947Ter) | dbSNP |
16 | g.9764861A= | CA2206693452 | GRIN2A | c.2683T= (p.Leu895=) c.2212T= (p.Leu738=) n.2276T= c.*53T= (n.*53T=) c.2272T= (p.Leu758=) n.2322T= n.466T= c.2524T= (p.Leu842=) c.2425T= (p.Leu809=) c.2839T= (p.Leu947=) | |
16 | g.9764861A>C | CA394709582 | GRIN2A | c.2683T>G (p.Leu895Val) c.2212T>G (p.Leu738Val) n.2276T>G c.*53T>G (n.*53T>G) c.2272T>G (p.Leu758Val) n.2322T>G n.466T>G c.2524T>G (p.Leu842Val) c.2425T>G (p.Leu809Val) c.2839T>G (p.Leu947Val) | dbSNP gnomAD v4 |
16 | g.9764861A>G | CA493693253 | GRIN2A | c.2683T>C (p.Leu895=) c.2212T>C (p.Leu738=) n.2276T>C c.*53T>C (n.*53T>C) c.2272T>C (p.Leu758=) n.2322T>C n.466T>C c.2524T>C (p.Leu842=) c.2425T>C (p.Leu809=) c.2839T>C (p.Leu947=) | |
16 | g.9764861A>T | CA394709583 | GRIN2A | c.2683T>A (p.Leu895Ile) c.2212T>A (p.Leu738Ile) n.2276T>A c.*53T>A (n.*53T>A) c.2272T>A (p.Leu758Ile) n.2322T>A n.466T>A c.2524T>A (p.Leu842Ile) c.2425T>A (p.Leu809Ile) c.2839T>A (p.Leu947Ile) | dbSNP |
16 | g.9764862C>A | CA394709584 | GRIN2A | c.2682G>T (p.Met894Ile) c.2211G>T (p.Met737Ile) n.2275G>T c.*52G>T (n.*52G>T) c.2271G>T (p.Met757Ile) n.2321G>T n.465G>T c.2523G>T (p.Met841Ile) c.2424G>T (p.Met808Ile) c.2838G>T (p.Met946Ile) | |
16 | g.9764862C= | CA2206693453 | GRIN2A | c.2682G= (p.Met894=) c.2211G= (p.Met737=) n.2275G= c.*52G= (n.*52G=) c.2271G= (p.Met757=) n.2321G= n.465G= c.2523G= (p.Met841=) c.2424G= (p.Met808=) c.2838G= (p.Met946=) | |
16 | g.9764862C>G | CA394709585 | GRIN2A | c.2682G>C (p.Met894Ile) c.2211G>C (p.Met737Ile) n.2275G>C c.*52G>C (n.*52G>C) c.2271G>C (p.Met757Ile) n.2321G>C n.465G>C c.2523G>C (p.Met841Ile) c.2424G>C (p.Met808Ile) c.2838G>C (p.Met946Ile) | dbSNP |
16 | g.9764862C>T | CA394709586 | GRIN2A | c.2682G>A (p.Met894Ile) c.2211G>A (p.Met737Ile) n.2275G>A c.*52G>A (n.*52G>A) c.2271G>A (p.Met757Ile) n.2321G>A n.465G>A c.2523G>A (p.Met841Ile) c.2424G>A (p.Met808Ile) c.2838G>A (p.Met946Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764863A= | CA2206693454 | GRIN2A | c.2681T= (p.Met894=) c.2210T= (p.Met737=) n.2274T= c.*51T= (n.*51T=) c.2270T= (p.Met757=) n.2320T= n.464T= c.2522T= (p.Met841=) c.2423T= (p.Met808=) c.2837T= (p.Met946=) | |
16 | g.9764863A>C | CA394709588 | GRIN2A | c.2681T>G (p.Met894Arg) c.2210T>G (p.Met737Arg) n.2274T>G c.*51T>G (n.*51T>G) c.2270T>G (p.Met757Arg) n.2320T>G n.464T>G c.2522T>G (p.Met841Arg) c.2423T>G (p.Met808Arg) c.2837T>G (p.Met946Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764863A>G | CA394709587 | GRIN2A | c.2681T>C (p.Met894Thr) c.2210T>C (p.Met737Thr) n.2274T>C c.*51T>C (n.*51T>C) c.2270T>C (p.Met757Thr) n.2320T>C n.464T>C c.2522T>C (p.Met841Thr) c.2423T>C (p.Met808Thr) c.2837T>C (p.Met946Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764863A>T | CA7896439 | GRIN2A | c.2681T>A (p.Met894Lys) c.2210T>A (p.Met737Lys) n.2274T>A c.*51T>A (n.*51T>A) c.2270T>A (p.Met757Lys) n.2320T>A n.464T>A c.2522T>A (p.Met841Lys) c.2423T>A (p.Met808Lys) c.2837T>A (p.Met946Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764864T>A | CA394709589 | GRIN2A | c.2680A>T (p.Met894Leu) c.2209A>T (p.Met737Leu) n.2273A>T c.*50A>T (n.*50A>T) c.2269A>T (p.Met757Leu) n.2319A>T n.463A>T c.2521A>T (p.Met841Leu) c.2422A>T (p.Met808Leu) c.2836A>T (p.Met946Leu) | dbSNP |
16 | g.9764864T>C | CA394709591 | GRIN2A | c.2680A>G (p.Met894Val) c.2209A>G (p.Met737Val) n.2273A>G c.*50A>G (n.*50A>G) c.2269A>G (p.Met757Val) n.2319A>G n.463A>G c.2521A>G (p.Met841Val) c.2422A>G (p.Met808Val) c.2836A>G (p.Met946Val) | |
16 | g.9764864T>G | CA394709590 | GRIN2A | c.2680A>C (p.Met894Leu) c.2209A>C (p.Met737Leu) n.2273A>C c.*50A>C (n.*50A>C) c.2269A>C (p.Met757Leu) n.2319A>C n.463A>C c.2521A>C (p.Met841Leu) c.2422A>C (p.Met808Leu) c.2836A>C (p.Met946Leu) | |
16 | g.9764865G>A | CA277538669 | GRIN2A | c.2679C>T (p.Asn893=) c.2208C>T (p.Asn736=) n.2272C>T c.*49C>T (n.*49C>T) c.2268C>T (p.Asn756=) n.2318C>T n.462C>T c.2520C>T (p.Asn840=) c.2421C>T (p.Asn807=) c.2835C>T (p.Asn945=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764865G>C | CA394709592 | GRIN2A | c.2679C>G (p.Asn893Lys) c.2208C>G (p.Asn736Lys) n.2272C>G c.*49C>G (n.*49C>G) c.2268C>G (p.Asn756Lys) n.2318C>G n.462C>G c.2520C>G (p.Asn840Lys) c.2421C>G (p.Asn807Lys) c.2835C>G (p.Asn945Lys) | dbSNP |
16 | g.9764865G= | CA2206693455 | GRIN2A | c.2679C= (p.Asn893=) c.2208C= (p.Asn736=) n.2272C= c.*49C= (n.*49C=) c.2268C= (p.Asn756=) n.2318C= n.462C= c.2520C= (p.Asn840=) c.2421C= (p.Asn807=) c.2835C= (p.Asn945=) | |
16 | g.9764865G>T | CA394709593 | GRIN2A | c.2679C>A (p.Asn893Lys) c.2208C>A (p.Asn736Lys) n.2272C>A c.*49C>A (n.*49C>A) c.2268C>A (p.Asn756Lys) n.2318C>A n.462C>A c.2520C>A (p.Asn840Lys) c.2421C>A (p.Asn807Lys) c.2835C>A (p.Asn945Lys) | |
16 | g.9764866T>A | CA394709594 | GRIN2A | c.2678A>T (p.Asn893Ile) c.2207A>T (p.Asn736Ile) n.2271A>T c.*48A>T (n.*48A>T) c.2267A>T (p.Asn756Ile) n.2317A>T n.461A>T c.2519A>T (p.Asn840Ile) c.2420A>T (p.Asn807Ile) c.2834A>T (p.Asn945Ile) | dbSNP |
16 | g.9764866T>C | CA394709595 | GRIN2A | c.2678A>G (p.Asn893Ser) c.2207A>G (p.Asn736Ser) n.2271A>G c.*48A>G (n.*48A>G) c.2267A>G (p.Asn756Ser) n.2317A>G n.461A>G c.2519A>G (p.Asn840Ser) c.2420A>G (p.Asn807Ser) c.2834A>G (p.Asn945Ser) | |
16 | g.9764866T>G | CA394709596 | GRIN2A | c.2678A>C (p.Asn893Thr) c.2207A>C (p.Asn736Thr) n.2271A>C c.*48A>C (n.*48A>C) c.2267A>C (p.Asn756Thr) n.2317A>C n.461A>C c.2519A>C (p.Asn840Thr) c.2420A>C (p.Asn807Thr) c.2834A>C (p.Asn945Thr) | dbSNP |
16 | g.9764867T>A | CA394709597 | GRIN2A | c.2677A>T (p.Asn893Tyr) c.2206A>T (p.Asn736Tyr) n.2270A>T c.*47A>T (n.*47A>T) c.2266A>T (p.Asn756Tyr) n.2316A>T n.460A>T c.2518A>T (p.Asn840Tyr) c.2419A>T (p.Asn807Tyr) c.2833A>T (p.Asn945Tyr) | dbSNP |
16 | g.9764867T>C | CA394709598 | GRIN2A | c.2677A>G (p.Asn893Asp) c.2206A>G (p.Asn736Asp) n.2270A>G c.*47A>G (n.*47A>G) c.2266A>G (p.Asn756Asp) n.2316A>G n.460A>G c.2518A>G (p.Asn840Asp) c.2419A>G (p.Asn807Asp) c.2833A>G (p.Asn945Asp) | dbSNP |
16 | g.9764867T>G | CA394709599 | GRIN2A | c.2677A>C (p.Asn893His) c.2206A>C (p.Asn736His) n.2270A>C c.*47A>C (n.*47A>C) c.2266A>C (p.Asn756His) n.2316A>C n.460A>C c.2518A>C (p.Asn840His) c.2419A>C (p.Asn807His) c.2833A>C (p.Asn945His) | |
16 | g.9764868G>A | CA493693264 | GRIN2A | c.2676C>T (p.Ser892=) c.2205C>T (p.Ser735=) n.2269C>T c.*46C>T (n.*46C>T) c.2265C>T (p.Ser755=) n.2315C>T n.459C>T c.2517C>T (p.Ser839=) c.2418C>T (p.Ser806=) c.2832C>T (p.Ser944=) | dbSNP |
16 | g.9764868G>C | CA394709600 | GRIN2A | c.2676C>G (p.Ser892Arg) c.2205C>G (p.Ser735Arg) n.2269C>G c.*46C>G (n.*46C>G) c.2265C>G (p.Ser755Arg) n.2315C>G n.459C>G c.2517C>G (p.Ser839Arg) c.2418C>G (p.Ser806Arg) c.2832C>G (p.Ser944Arg) | dbSNP |
16 | g.9764868G>T | CA394709601 | GRIN2A | c.2676C>A (p.Ser892Arg) c.2205C>A (p.Ser735Arg) n.2269C>A c.*46C>A (n.*46C>A) c.2265C>A (p.Ser755Arg) n.2315C>A n.459C>A c.2517C>A (p.Ser839Arg) c.2418C>A (p.Ser806Arg) c.2832C>A (p.Ser944Arg) | |
16 | g.9764869C>A | CA394709604 | GRIN2A | c.2675G>T (p.Ser892Ile) c.2204G>T (p.Ser735Ile) n.2268G>T c.*45G>T (n.*45G>T) c.2264G>T (p.Ser755Ile) n.2314G>T n.458G>T c.2516G>T (p.Ser839Ile) c.2417G>T (p.Ser806Ile) c.2831G>T (p.Ser944Ile) | |
16 | g.9764869C= | CA2206693456 | GRIN2A | c.2675G= (p.Ser892=) c.2204G= (p.Ser735=) n.2268G= c.*45G= (n.*45G=) c.2264G= (p.Ser755=) n.2314G= n.458G= c.2516G= (p.Ser839=) c.2417G= (p.Ser806=) c.2831G= (p.Ser944=) | |
16 | g.9764869C>G | CA394709603 | GRIN2A | c.2675G>C (p.Ser892Thr) c.2204G>C (p.Ser735Thr) n.2268G>C c.*45G>C (n.*45G>C) c.2264G>C (p.Ser755Thr) n.2314G>C n.458G>C c.2516G>C (p.Ser839Thr) c.2417G>C (p.Ser806Thr) c.2831G>C (p.Ser944Thr) | dbSNP |
16 | g.9764869C>T | CA394709602 | GRIN2A | c.2675G>A (p.Ser892Asn) c.2204G>A (p.Ser735Asn) n.2268G>A c.*45G>A (n.*45G>A) c.2264G>A (p.Ser755Asn) n.2314G>A n.458G>A c.2516G>A (p.Ser839Asn) c.2417G>A (p.Ser806Asn) c.2831G>A (p.Ser944Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764870T>A | CA394709605 | GRIN2A | c.2674A>T (p.Ser892Cys) c.2203A>T (p.Ser735Cys) n.2267A>T c.*44A>T (n.*44A>T) c.2263A>T (p.Ser755Cys) n.2313A>T n.457A>T c.2515A>T (p.Ser839Cys) c.2416A>T (p.Ser806Cys) c.2830A>T (p.Ser944Cys) | dbSNP |
16 | g.9764870T>C | CA16615492 | GRIN2A | c.2674A>G (p.Ser892Gly) c.2203A>G (p.Ser735Gly) n.2267A>G c.*44A>G (n.*44A>G) c.2263A>G (p.Ser755Gly) n.2313A>G n.457A>G c.2515A>G (p.Ser839Gly) c.2416A>G (p.Ser806Gly) c.2830A>G (p.Ser944Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.9764870T>G | CA394709606 | GRIN2A | c.2674A>C (p.Ser892Arg) c.2203A>C (p.Ser735Arg) n.2267A>C c.*44A>C (n.*44A>C) c.2263A>C (p.Ser755Arg) n.2313A>C n.457A>C c.2515A>C (p.Ser839Arg) c.2416A>C (p.Ser806Arg) c.2830A>C (p.Ser944Arg) | |
16 | g.9764870T= | CA2206693457 | GRIN2A | c.2674A= (p.Ser892=) c.2203A= (p.Ser735=) n.2267A= c.*44A= (n.*44A=) c.2263A= (p.Ser755=) n.2313A= n.457A= c.2515A= (p.Ser839=) c.2416A= (p.Ser806=) c.2830A= (p.Ser944=) | |
16 | g.9764871C>A | CA394709607 | GRIN2A | c.2673G>T (p.Gln891His) c.2202G>T (p.Gln734His) n.2266G>T c.*43G>T (n.*43G>T) c.2262G>T (p.Gln754His) n.2312G>T n.456G>T c.2514G>T (p.Gln838His) c.2415G>T (p.Gln805His) c.2829G>T (p.Gln943His) | |
16 | g.9764871C= | CA2206693458 | GRIN2A | c.2673G= (p.Gln891=) c.2202G= (p.Gln734=) n.2266G= c.*43G= (n.*43G=) c.2262G= (p.Gln754=) n.2312G= n.456G= c.2514G= (p.Gln838=) c.2415G= (p.Gln805=) c.2829G= (p.Gln943=) | |
16 | g.9764871C>G | CA394709608 | GRIN2A | c.2673G>C (p.Gln891His) c.2202G>C (p.Gln734His) n.2266G>C c.*43G>C (n.*43G>C) c.2262G>C (p.Gln754His) n.2312G>C n.456G>C c.2514G>C (p.Gln838His) c.2415G>C (p.Gln805His) c.2829G>C (p.Gln943His) | ClinVar dbSNP |
16 | g.9764871C>T | CA7896440 | GRIN2A | c.2673G>A (p.Gln891=) c.2202G>A (p.Gln734=) n.2266G>A c.*43G>A (n.*43G>A) c.2262G>A (p.Gln754=) n.2312G>A n.456G>A c.2514G>A (p.Gln838=) c.2415G>A (p.Gln805=) c.2829G>A (p.Gln943=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.9764872T>A | CA394709609 | GRIN2A | c.2672A>T (p.Gln891Leu) c.2201A>T (p.Gln734Leu) n.2265A>T c.*42A>T (n.*42A>T) c.2261A>T (p.Gln754Leu) n.2311A>T n.455A>T c.2513A>T (p.Gln838Leu) c.2414A>T (p.Gln805Leu) c.2828A>T (p.Gln943Leu) | |
16 | g.9764872T>C | CA394709610 | GRIN2A | c.2672A>G (p.Gln891Arg) c.2201A>G (p.Gln734Arg) n.2265A>G c.*42A>G (n.*42A>G) c.2261A>G (p.Gln754Arg) n.2311A>G n.455A>G c.2513A>G (p.Gln838Arg) c.2414A>G (p.Gln805Arg) c.2828A>G (p.Gln943Arg) | dbSNP |
16 | g.9764872T>G | CA394709611 | GRIN2A | c.2672A>C (p.Gln891Pro) c.2201A>C (p.Gln734Pro) n.2265A>C c.*42A>C (n.*42A>C) c.2261A>C (p.Gln754Pro) n.2311A>C n.455A>C c.2513A>C (p.Gln838Pro) c.2414A>C (p.Gln805Pro) c.2828A>C (p.Gln943Pro) |