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.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=) | |
16 | g.9764747C>A | CA394709338 | GRIN2A | c.2797G>T (p.Asp933Tyr) c.2326G>T (p.Asp776Tyr) n.2390G>T c.*167G>T (n.*167G>T) c.2386G>T (p.Asp796Tyr) n.2436G>T c.2638G>T (p.Asp880Tyr) c.2539G>T (p.Asp847Tyr) c.2953G>T (p.Asp985Tyr) | dbSNP |
16 | g.9764747C= | CA2206693391 | GRIN2A | c.2797G= (p.Asp933=) c.2326G= (p.Asp776=) n.2390G= c.*167G= (n.*167G=) c.2386G= (p.Asp796=) n.2436G= c.2638G= (p.Asp880=) c.2539G= (p.Asp847=) c.2953G= (p.Asp985=) | |
16 | g.9764747C>G | CA394709337 | GRIN2A | c.2797G>C (p.Asp933His) c.2326G>C (p.Asp776His) n.2390G>C c.*167G>C (n.*167G>C) c.2386G>C (p.Asp796His) n.2436G>C c.2638G>C (p.Asp880His) c.2539G>C (p.Asp847His) c.2953G>C (p.Asp985His) | dbSNP |
16 | g.9764747C>T | CA277538510 | GRIN2A | c.2797G>A (p.Asp933Asn) c.2326G>A (p.Asp776Asn) n.2390G>A c.*167G>A (n.*167G>A) c.2386G>A (p.Asp796Asn) n.2436G>A c.2638G>A (p.Asp880Asn) c.2539G>A (p.Asp847Asn) c.2953G>A (p.Asp985Asn) | ClinVar dbSNP gnomAD v4 |
16 | g.9764748C>A | CA394709339 | GRIN2A | c.2796G>T (p.Met932Ile) c.2325G>T (p.Met775Ile) n.2389G>T c.*166G>T (n.*166G>T) c.2385G>T (p.Met795Ile) n.2435G>T c.2637G>T (p.Met879Ile) c.2538G>T (p.Met846Ile) c.2952G>T (p.Met984Ile) | dbSNP |
16 | g.9764748C= | CA2206693392 | GRIN2A | c.2796G= (p.Met932=) c.2325G= (p.Met775=) n.2389G= c.*166G= (n.*166G=) c.2385G= (p.Met795=) n.2435G= c.2637G= (p.Met879=) c.2538G= (p.Met846=) c.2952G= (p.Met984=) | |
16 | g.9764748C>G | CA314958 | GRIN2A | c.2796G>C (p.Met932Ile) c.2325G>C (p.Met775Ile) n.2389G>C c.*166G>C (n.*166G>C) c.2385G>C (p.Met795Ile) n.2435G>C c.2637G>C (p.Met879Ile) c.2538G>C (p.Met846Ile) c.2952G>C (p.Met984Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764748C>T | CA394709340 | GRIN2A | c.2796G>A (p.Met932Ile) c.2325G>A (p.Met775Ile) n.2389G>A c.*166G>A (n.*166G>A) c.2385G>A (p.Met795Ile) n.2435G>A c.2637G>A (p.Met879Ile) c.2538G>A (p.Met846Ile) c.2952G>A (p.Met984Ile) | dbSNP |
16 | g.9764749A= | CA2206693393 | GRIN2A | c.2795T= (p.Met932=) c.2324T= (p.Met775=) n.2388T= c.*165T= (n.*165T=) c.2384T= (p.Met795=) n.2434T= c.2636T= (p.Met879=) c.2537T= (p.Met846=) c.2951T= (p.Met984=) | |
16 | g.9764749A>C | CA394709341 | GRIN2A | c.2795T>G (p.Met932Arg) c.2324T>G (p.Met775Arg) n.2388T>G c.*165T>G (n.*165T>G) c.2384T>G (p.Met795Arg) n.2434T>G c.2636T>G (p.Met879Arg) c.2537T>G (p.Met846Arg) c.2951T>G (p.Met984Arg) | |
16 | g.9764749A>G | CA277538534 | GRIN2A | c.2795T>C (p.Met932Thr) c.2324T>C (p.Met775Thr) n.2388T>C c.*165T>C (n.*165T>C) c.2384T>C (p.Met795Thr) n.2434T>C c.2636T>C (p.Met879Thr) c.2537T>C (p.Met846Thr) c.2951T>C (p.Met984Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764749A>T | CA394709342 | GRIN2A | c.2795T>A (p.Met932Lys) c.2324T>A (p.Met775Lys) n.2388T>A c.*165T>A (n.*165T>A) c.2384T>A (p.Met795Lys) n.2434T>A c.2636T>A (p.Met879Lys) c.2537T>A (p.Met846Lys) c.2951T>A (p.Met984Lys) | dbSNP |
16 | g.9764750T>A | CA394709343 | GRIN2A | c.2794A>T (p.Met932Leu) c.2323A>T (p.Met775Leu) n.2387A>T c.*164A>T (n.*164A>T) c.2383A>T (p.Met795Leu) n.2433A>T c.2635A>T (p.Met879Leu) c.2536A>T (p.Met846Leu) c.2950A>T (p.Met984Leu) | dbSNP |
16 | g.9764750T>C | CA7896421 | GRIN2A | c.2794A>G (p.Met932Val) c.2323A>G (p.Met775Val) n.2387A>G c.*164A>G (n.*164A>G) c.2383A>G (p.Met795Val) n.2433A>G c.2635A>G (p.Met879Val) c.2536A>G (p.Met846Val) c.2950A>G (p.Met984Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764750T>G | CA394709344 | GRIN2A | c.2794A>C (p.Met932Leu) c.2323A>C (p.Met775Leu) n.2387A>C c.*164A>C (n.*164A>C) c.2383A>C (p.Met795Leu) n.2433A>C c.2635A>C (p.Met879Leu) c.2536A>C (p.Met846Leu) c.2950A>C (p.Met984Leu) | |
16 | g.9764750T= | CA2206693394 | GRIN2A | c.2794A= (p.Met932=) c.2323A= (p.Met775=) n.2387A= c.*164A= (n.*164A=) c.2383A= (p.Met795=) n.2433A= c.2635A= (p.Met879=) c.2536A= (p.Met846=) c.2950A= (p.Met984=) | |
16 | g.9764750_9764751delinsTG | CA2206693395 | GRIN2A | c.2793_2794delinsCA (p.Ile931=) c.2322_2323delinsCA (p.Ile774=) n.2386_2387delinsCA c.*163_*164delinsCA (n.*163_*164delinsCA) c.2382_2383delinsCA (p.Ile794=) n.2432_2433delinsCA c.2634_2635delinsCA (p.Ile878=) c.2535_2536delinsCA (p.Ile845=) c.2949_2950delinsCA (p.Ile983=) | |
16 | g.9764751del | CA915949118 | GRIN2A | c.2793del (p.Met932TrpfsTer10) c.2322del (p.Met775TrpfsTer10) n.2386del c.*163del (n.*163del) c.2382del (p.Met795TrpfsTer10) n.2432del c.2634del (p.Met879TrpfsTer10) c.2535del (p.Met846TrpfsTer10) c.2949del (p.Met984TrpfsTer10) | ClinVar dbSNP |
16 | g.9764751G>A | CA493693468 | GRIN2A | c.2793C>T (p.Ile931=) c.2322C>T (p.Ile774=) n.2386C>T c.*163C>T (n.*163C>T) c.2382C>T (p.Ile794=) n.2432C>T c.2634C>T (p.Ile878=) c.2535C>T (p.Ile845=) c.2949C>T (p.Ile983=) | dbSNP |
16 | g.9764751G>C | CA7896422 | GRIN2A | c.2793C>G (p.Ile931Met) c.2322C>G (p.Ile774Met) n.2386C>G c.*163C>G (n.*163C>G) c.2382C>G (p.Ile794Met) n.2432C>G c.2634C>G (p.Ile878Met) c.2535C>G (p.Ile845Met) c.2949C>G (p.Ile983Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764751G= | CA2206693396 | GRIN2A | c.2793C= (p.Ile931=) c.2322C= (p.Ile774=) n.2386C= c.*163C= (n.*163C=) c.2382C= (p.Ile794=) n.2432C= c.2634C= (p.Ile878=) c.2535C= (p.Ile845=) c.2949C= (p.Ile983=) | |
16 | g.9764751G>T | CA493693469 | GRIN2A | c.2793C>A (p.Ile931=) c.2322C>A (p.Ile774=) n.2386C>A c.*163C>A (n.*163C>A) c.2382C>A (p.Ile794=) n.2432C>A c.2634C>A (p.Ile878=) c.2535C>A (p.Ile845=) c.2949C>A (p.Ile983=) | dbSNP |
16 | g.9764752A= | CA2206693397 | GRIN2A | c.2792T= (p.Ile931=) c.2321T= (p.Ile774=) n.2385T= c.*162T= (n.*162T=) c.2381T= (p.Ile794=) n.2431T= c.2633T= (p.Ile878=) c.2534T= (p.Ile845=) c.2948T= (p.Ile983=) | |
16 | g.9764752A>C | CA394709345 | GRIN2A | c.2792T>G (p.Ile931Ser) c.2321T>G (p.Ile774Ser) n.2385T>G c.*162T>G (n.*162T>G) c.2381T>G (p.Ile794Ser) n.2431T>G c.2633T>G (p.Ile878Ser) c.2534T>G (p.Ile845Ser) c.2948T>G (p.Ile983Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764752A>G | CA394709346 | GRIN2A | c.2792T>C (p.Ile931Thr) c.2321T>C (p.Ile774Thr) n.2385T>C c.*162T>C (n.*162T>C) c.2381T>C (p.Ile794Thr) n.2431T>C c.2633T>C (p.Ile878Thr) c.2534T>C (p.Ile845Thr) c.2948T>C (p.Ile983Thr) | ClinVar |
16 | g.9764752A>T | CA394709347 | GRIN2A | c.2792T>A (p.Ile931Asn) c.2321T>A (p.Ile774Asn) n.2385T>A c.*162T>A (n.*162T>A) c.2381T>A (p.Ile794Asn) n.2431T>A c.2633T>A (p.Ile878Asn) c.2534T>A (p.Ile845Asn) c.2948T>A (p.Ile983Asn) | |
16 | g.9764753T>A | CA394709348 | GRIN2A | c.2791A>T (p.Ile931Phe) c.2320A>T (p.Ile774Phe) n.2384A>T c.*161A>T (n.*161A>T) c.2380A>T (p.Ile794Phe) n.2430A>T c.2632A>T (p.Ile878Phe) c.2533A>T (p.Ile845Phe) c.2947A>T (p.Ile983Phe) | dbSNP |
16 | g.9764753T>C | CA394709349 | GRIN2A | c.2791A>G (p.Ile931Val) c.2320A>G (p.Ile774Val) n.2384A>G c.*161A>G (n.*161A>G) c.2380A>G (p.Ile794Val) n.2430A>G c.2632A>G (p.Ile878Val) c.2533A>G (p.Ile845Val) c.2947A>G (p.Ile983Val) | dbSNP gnomAD v4 |
16 | g.9764753T>G | CA394709350 | GRIN2A | c.2791A>C (p.Ile931Leu) c.2320A>C (p.Ile774Leu) n.2384A>C c.*161A>C (n.*161A>C) c.2380A>C (p.Ile794Leu) n.2430A>C c.2632A>C (p.Ile878Leu) c.2533A>C (p.Ile845Leu) c.2947A>C (p.Ile983Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764753T= | CA2206693398 | GRIN2A | c.2791A= (p.Ile931=) c.2320A= (p.Ile774=) n.2384A= c.*161A= (n.*161A=) c.2380A= (p.Ile794=) n.2430A= c.2632A= (p.Ile878=) c.2533A= (p.Ile845=) c.2947A= (p.Ile983=) | |
16 | g.9764754G>A | CA493693473 | GRIN2A | c.2790C>T (p.Leu930=) c.2319C>T (p.Leu773=) n.2383C>T c.*160C>T (n.*160C>T) c.2379C>T (p.Leu793=) n.2429C>T c.2631C>T (p.Leu877=) c.2532C>T (p.Leu844=) c.2946C>T (p.Leu982=) | dbSNP COSMIC |
16 | g.9764754G>C | CA277538571 | GRIN2A | c.2790C>G (p.Leu930=) c.2319C>G (p.Leu773=) n.2383C>G c.*160C>G (n.*160C>G) c.2379C>G (p.Leu793=) n.2429C>G c.2631C>G (p.Leu877=) c.2532C>G (p.Leu844=) c.2946C>G (p.Leu982=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764754G= | CA2206693399 | GRIN2A | c.2790C= (p.Leu930=) c.2319C= (p.Leu773=) n.2383C= c.*160C= (n.*160C=) c.2379C= (p.Leu793=) n.2429C= c.2631C= (p.Leu877=) c.2532C= (p.Leu844=) c.2946C= (p.Leu982=) | |
16 | g.9764754G>T | CA493693474 | GRIN2A | c.2790C>A (p.Leu930=) c.2319C>A (p.Leu773=) n.2383C>A c.*160C>A (n.*160C>A) c.2379C>A (p.Leu793=) n.2429C>A c.2631C>A (p.Leu877=) c.2532C>A (p.Leu844=) c.2946C>A (p.Leu982=) | |
16 | g.9764755A>C | CA394709351 | GRIN2A | c.2789T>G (p.Leu930Arg) c.2318T>G (p.Leu773Arg) n.2382T>G c.*159T>G (n.*159T>G) c.2378T>G (p.Leu793Arg) n.2428T>G c.2630T>G (p.Leu877Arg) c.2531T>G (p.Leu844Arg) c.2945T>G (p.Leu982Arg) | |
16 | g.9764755A>G | CA394709352 | GRIN2A | c.2789T>C (p.Leu930Pro) c.2318T>C (p.Leu773Pro) n.2382T>C c.*159T>C (n.*159T>C) c.2378T>C (p.Leu793Pro) n.2428T>C c.2630T>C (p.Leu877Pro) c.2531T>C (p.Leu844Pro) c.2945T>C (p.Leu982Pro) | |
16 | g.9764755A>T | CA394709353 | GRIN2A | c.2789T>A (p.Leu930His) c.2318T>A (p.Leu773His) n.2382T>A c.*159T>A (n.*159T>A) c.2378T>A (p.Leu793His) n.2428T>A c.2630T>A (p.Leu877His) c.2531T>A (p.Leu844His) c.2945T>A (p.Leu982His) | |
16 | g.9764756G>A | CA394709354 | GRIN2A | c.2788C>T (p.Leu930Phe) c.2317C>T (p.Leu773Phe) n.2381C>T c.*158C>T (n.*158C>T) c.2377C>T (p.Leu793Phe) n.2427C>T c.2629C>T (p.Leu877Phe) c.2530C>T (p.Leu844Phe) c.2944C>T (p.Leu982Phe) | dbSNP |
16 | g.9764756G>C | CA394709356 | GRIN2A | c.2788C>G (p.Leu930Val) c.2317C>G (p.Leu773Val) n.2381C>G c.*158C>G (n.*158C>G) c.2377C>G (p.Leu793Val) n.2427C>G c.2629C>G (p.Leu877Val) c.2530C>G (p.Leu844Val) c.2944C>G (p.Leu982Val) | ClinVar gnomAD v4 |
16 | g.9764756G>T | CA394709355 | GRIN2A | c.2788C>A (p.Leu930Ile) c.2317C>A (p.Leu773Ile) n.2381C>A c.*158C>A (n.*158C>A) c.2377C>A (p.Leu793Ile) n.2427C>A c.2629C>A (p.Leu877Ile) c.2530C>A (p.Leu844Ile) c.2944C>A (p.Leu982Ile) | dbSNP |
16 | g.9764757G>A | CA493693476 | GRIN2A | c.2787C>T (p.Ser929=) c.2316C>T (p.Ser772=) n.2380C>T c.*157C>T (n.*157C>T) c.2376C>T (p.Ser792=) n.2426C>T c.2628C>T (p.Ser876=) c.2529C>T (p.Ser843=) c.2943C>T (p.Ser981=) | dbSNP |
16 | g.9764757G>C | CA493693477 | GRIN2A | c.2787C>G (p.Ser929=) c.2316C>G (p.Ser772=) n.2380C>G c.*157C>G (n.*157C>G) c.2376C>G (p.Ser792=) n.2426C>G c.2628C>G (p.Ser876=) c.2529C>G (p.Ser843=) c.2943C>G (p.Ser981=) | dbSNP |
16 | g.9764757G>T | CA493693478 | GRIN2A | c.2787C>A (p.Ser929=) c.2316C>A (p.Ser772=) n.2380C>A c.*157C>A (n.*157C>A) c.2376C>A (p.Ser792=) n.2426C>A c.2628C>A (p.Ser876=) c.2529C>A (p.Ser843=) c.2943C>A (p.Ser981=) | dbSNP |
16 | g.9764758G>A | CA7896423 | GRIN2A | c.2786C>T (p.Ser929Phe) c.2315C>T (p.Ser772Phe) n.2379C>T c.*156C>T (n.*156C>T) c.2375C>T (p.Ser792Phe) n.2425C>T c.2627C>T (p.Ser876Phe) c.2528C>T (p.Ser843Phe) c.2942C>T (p.Ser981Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.9764758G>C | CA394709357 | GRIN2A | c.2786C>G (p.Ser929Cys) c.2315C>G (p.Ser772Cys) n.2379C>G c.*156C>G (n.*156C>G) c.2375C>G (p.Ser792Cys) n.2425C>G c.2627C>G (p.Ser876Cys) c.2528C>G (p.Ser843Cys) c.2942C>G (p.Ser981Cys) | dbSNP gnomAD v4 |
16 | g.9764758G= | CA2206693400 | GRIN2A | c.2786C= (p.Ser929=) c.2315C= (p.Ser772=) n.2379C= c.*156C= (n.*156C=) c.2375C= (p.Ser792=) n.2425C= c.2627C= (p.Ser876=) c.2528C= (p.Ser843=) c.2942C= (p.Ser981=) | |
16 | g.9764758G>T | CA394709358 | GRIN2A | c.2786C>A (p.Ser929Tyr) c.2315C>A (p.Ser772Tyr) n.2379C>A c.*156C>A (n.*156C>A) c.2375C>A (p.Ser792Tyr) n.2425C>A c.2627C>A (p.Ser876Tyr) c.2528C>A (p.Ser843Tyr) c.2942C>A (p.Ser981Tyr) | dbSNP |
16 | g.9764759A>C | CA394709359 | GRIN2A | c.2785T>G (p.Ser929Ala) c.2314T>G (p.Ser772Ala) n.2378T>G c.*155T>G (n.*155T>G) c.2374T>G (p.Ser792Ala) n.2424T>G c.2626T>G (p.Ser876Ala) c.2527T>G (p.Ser843Ala) c.2941T>G (p.Ser981Ala) | gnomAD v4 |
16 | g.9764759A>G | CA394709360 | GRIN2A | c.2785T>C (p.Ser929Pro) c.2314T>C (p.Ser772Pro) n.2378T>C c.*155T>C (n.*155T>C) c.2374T>C (p.Ser792Pro) n.2424T>C c.2626T>C (p.Ser876Pro) c.2527T>C (p.Ser843Pro) c.2941T>C (p.Ser981Pro) | |
16 | g.9764759A>T | CA394709361 | GRIN2A | c.2785T>A (p.Ser929Thr) c.2314T>A (p.Ser772Thr) n.2378T>A c.*155T>A (n.*155T>A) c.2374T>A (p.Ser792Thr) n.2424T>A c.2626T>A (p.Ser876Thr) c.2527T>A (p.Ser843Thr) c.2941T>A (p.Ser981Thr) | dbSNP |
16 | g.9764760A= | CA2206693401 | GRIN2A | c.2784T= (p.Gly928=) c.2313T= (p.Gly771=) n.2377T= c.*154T= (n.*154T=) c.2373T= (p.Gly791=) n.2423T= c.2625T= (p.Gly875=) c.2526T= (p.Gly842=) c.2940T= (p.Gly980=) | |
16 | g.9764760A>C | CA493693482 | GRIN2A | c.2784T>G (p.Gly928=) c.2313T>G (p.Gly771=) n.2377T>G c.*154T>G (n.*154T>G) c.2373T>G (p.Gly791=) n.2423T>G c.2625T>G (p.Gly875=) c.2526T>G (p.Gly842=) c.2940T>G (p.Gly980=) | ClinVar |
16 | g.9764760A>G | CA493693480 | GRIN2A | c.2784T>C (p.Gly928=) c.2313T>C (p.Gly771=) n.2377T>C c.*154T>C (n.*154T>C) c.2373T>C (p.Gly791=) n.2423T>C c.2625T>C (p.Gly875=) c.2526T>C (p.Gly842=) c.2940T>C (p.Gly980=) | dbSNP gnomAD v2 |
16 | g.9764760A>T | CA493693481 | GRIN2A | c.2784T>A (p.Gly928=) c.2313T>A (p.Gly771=) n.2377T>A c.*154T>A (n.*154T>A) c.2373T>A (p.Gly791=) n.2423T>A c.2625T>A (p.Gly875=) c.2526T>A (p.Gly842=) c.2940T>A (p.Gly980=) | dbSNP |
16 | g.9764761C>A | CA394709364 | GRIN2A | c.2783G>T (p.Gly928Val) c.2312G>T (p.Gly771Val) n.2376G>T c.*153G>T (n.*153G>T) c.2372G>T (p.Gly791Val) n.2422G>T c.2624G>T (p.Gly875Val) c.2525G>T (p.Gly842Val) c.2939G>T (p.Gly980Val) | ClinVar dbSNP gnomAD v4 |
16 | g.9764761C>G | CA394709362 | GRIN2A | c.2783G>C (p.Gly928Ala) c.2312G>C (p.Gly771Ala) n.2376G>C c.*153G>C (n.*153G>C) c.2372G>C (p.Gly791Ala) n.2422G>C c.2624G>C (p.Gly875Ala) c.2525G>C (p.Gly842Ala) c.2939G>C (p.Gly980Ala) | dbSNP gnomAD v4 |
16 | g.9764761C>T | CA394709363 | GRIN2A | c.2783G>A (p.Gly928Asp) c.2312G>A (p.Gly771Asp) n.2376G>A c.*153G>A (n.*153G>A) c.2372G>A (p.Gly791Asp) n.2422G>A c.2624G>A (p.Gly875Asp) c.2525G>A (p.Gly842Asp) c.2939G>A (p.Gly980Asp) | gnomAD v4 |
16 | g.9764762C>A | CA394709365 | GRIN2A | c.2782G>T (p.Gly928Cys) c.2311G>T (p.Gly771Cys) n.2375G>T c.*152G>T (n.*152G>T) c.2371G>T (p.Gly791Cys) n.2421G>T c.2623G>T (p.Gly875Cys) c.2524G>T (p.Gly842Cys) c.2938G>T (p.Gly980Cys) | dbSNP |
16 | g.9764762C>G | CA394709366 | GRIN2A | c.2782G>C (p.Gly928Arg) c.2311G>C (p.Gly771Arg) n.2375G>C c.*152G>C (n.*152G>C) c.2371G>C (p.Gly791Arg) n.2421G>C c.2623G>C (p.Gly875Arg) c.2524G>C (p.Gly842Arg) c.2938G>C (p.Gly980Arg) | dbSNP |
16 | g.9764762C>T | CA394709367 | GRIN2A | c.2782G>A (p.Gly928Ser) c.2311G>A (p.Gly771Ser) n.2375G>A c.*152G>A (n.*152G>A) c.2371G>A (p.Gly791Ser) n.2421G>A c.2623G>A (p.Gly875Ser) c.2524G>A (p.Gly842Ser) c.2938G>A (p.Gly980Ser) | dbSNP gnomAD v4 |
16 | g.9764763T>A | CA394709368 | GRIN2A | c.2781A>T (p.Arg927Ser) c.2310A>T (p.Arg770Ser) n.2374A>T c.*151A>T (n.*151A>T) c.2370A>T (p.Arg790Ser) n.2420A>T c.2622A>T (p.Arg874Ser) c.2523A>T (p.Arg841Ser) c.2937A>T (p.Arg979Ser) | dbSNP |
16 | g.9764763T>C | CA493693486 | GRIN2A | c.2781A>G (p.Arg927=) c.2310A>G (p.Arg770=) n.2374A>G c.*151A>G (n.*151A>G) c.2370A>G (p.Arg790=) n.2420A>G c.2622A>G (p.Arg874=) c.2523A>G (p.Arg841=) c.2937A>G (p.Arg979=) | |
16 | g.9764763T>G | CA394709369 | GRIN2A | c.2781A>C (p.Arg927Ser) c.2310A>C (p.Arg770Ser) n.2374A>C c.*151A>C (n.*151A>C) c.2370A>C (p.Arg790Ser) n.2420A>C c.2622A>C (p.Arg874Ser) c.2523A>C (p.Arg841Ser) c.2937A>C (p.Arg979Ser) | |
16 | g.9764764C>A | CA394709371 | GRIN2A | c.2780G>T (p.Arg927Ile) c.2309G>T (p.Arg770Ile) n.2373G>T c.*150G>T (n.*150G>T) c.2369G>T (p.Arg790Ile) n.2419G>T c.2621G>T (p.Arg874Ile) c.2522G>T (p.Arg841Ile) c.2936G>T (p.Arg979Ile) | dbSNP |
16 | g.9764764C= | CA2206693402 | GRIN2A | c.2780G= (p.Arg927=) c.2309G= (p.Arg770=) n.2373G= c.*150G= (n.*150G=) c.2369G= (p.Arg790=) n.2419G= c.2621G= (p.Arg874=) c.2522G= (p.Arg841=) c.2936G= (p.Arg979=) | |
16 | g.9764764C>G | CA7896424 | GRIN2A | c.2780G>C (p.Arg927Thr) c.2309G>C (p.Arg770Thr) n.2373G>C c.*150G>C (n.*150G>C) c.2369G>C (p.Arg790Thr) n.2419G>C c.2621G>C (p.Arg874Thr) c.2522G>C (p.Arg841Thr) c.2936G>C (p.Arg979Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764764C>T | CA394709370 | GRIN2A | c.2780G>A (p.Arg927Lys) c.2309G>A (p.Arg770Lys) n.2373G>A c.*150G>A (n.*150G>A) c.2369G>A (p.Arg790Lys) n.2419G>A c.2621G>A (p.Arg874Lys) c.2522G>A (p.Arg841Lys) c.2936G>A (p.Arg979Lys) | dbSNP |
16 | g.9764765T>A | CA394709372 | GRIN2A | c.2779A>T (p.Arg927Ter) c.2308A>T (p.Arg770Ter) n.2372A>T c.*149A>T (n.*149A>T) c.2368A>T (p.Arg790Ter) n.2418A>T c.2620A>T (p.Arg874Ter) c.2521A>T (p.Arg841Ter) c.2935A>T (p.Arg979Ter) | dbSNP |
16 | g.9764765T>C | CA7896425 | GRIN2A | c.2779A>G (p.Arg927Gly) c.2308A>G (p.Arg770Gly) n.2372A>G c.*149A>G (n.*149A>G) c.2368A>G (p.Arg790Gly) n.2418A>G c.2620A>G (p.Arg874Gly) c.2521A>G (p.Arg841Gly) c.2935A>G (p.Arg979Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764765T>G | CA493693489 | GRIN2A | c.2779A>C (p.Arg927=) c.2308A>C (p.Arg770=) n.2372A>C c.*149A>C (n.*149A>C) c.2368A>C (p.Arg790=) n.2418A>C c.2620A>C (p.Arg874=) c.2521A>C (p.Arg841=) c.2935A>C (p.Arg979=) | |
16 | g.9764765T= | CA2206693403 | GRIN2A | c.2779A= (p.Arg927=) c.2308A= (p.Arg770=) n.2372A= c.*149A= (n.*149A=) c.2368A= (p.Arg790=) n.2418A= c.2620A= (p.Arg874=) c.2521A= (p.Arg841=) c.2935A= (p.Arg979=) | |
16 | g.9764766T>A | CA394709373 | GRIN2A | c.2778A>T (p.Gln926His) c.2307A>T (p.Gln769His) n.2371A>T c.*148A>T (n.*148A>T) c.2367A>T (p.Gln789His) n.2417A>T c.2619A>T (p.Gln873His) c.2520A>T (p.Gln840His) c.2934A>T (p.Gln978His) | dbSNP |
16 | g.9764766T>C | CA493693490 | GRIN2A | c.2778A>G (p.Gln926=) c.2307A>G (p.Gln769=) n.2371A>G c.*148A>G (n.*148A>G) c.2367A>G (p.Gln789=) n.2417A>G c.2619A>G (p.Gln873=) c.2520A>G (p.Gln840=) c.2934A>G (p.Gln978=) | gnomAD v4 |
16 | g.9764766T>G | CA394709374 | GRIN2A | c.2778A>C (p.Gln926His) c.2307A>C (p.Gln769His) n.2371A>C c.*148A>C (n.*148A>C) c.2367A>C (p.Gln789His) n.2417A>C c.2619A>C (p.Gln873His) c.2520A>C (p.Gln840His) c.2934A>C (p.Gln978His) | |
16 | g.9764767T>A | CA394709375 | GRIN2A | c.2777A>T (p.Gln926Leu) c.2306A>T (p.Gln769Leu) n.2370A>T c.*147A>T (n.*147A>T) c.2366A>T (p.Gln789Leu) n.2416A>T c.2618A>T (p.Gln873Leu) c.2519A>T (p.Gln840Leu) c.2933A>T (p.Gln978Leu) | |
16 | g.9764767T>C | CA394709376 | GRIN2A | c.2777A>G (p.Gln926Arg) c.2306A>G (p.Gln769Arg) n.2370A>G c.*147A>G (n.*147A>G) c.2366A>G (p.Gln789Arg) n.2416A>G c.2618A>G (p.Gln873Arg) c.2519A>G (p.Gln840Arg) c.2933A>G (p.Gln978Arg) | |
16 | g.9764767T>G | CA394709377 | GRIN2A | c.2777A>C (p.Gln926Pro) c.2306A>C (p.Gln769Pro) n.2370A>C c.*147A>C (n.*147A>C) c.2366A>C (p.Gln789Pro) n.2416A>C c.2618A>C (p.Gln873Pro) c.2519A>C (p.Gln840Pro) c.2933A>C (p.Gln978Pro) | |
16 | g.9764767_9764768delinsTG | CA2206693404 | GRIN2A | c.2776_2777delinsCA (p.Gln926=) c.2305_2306delinsCA (p.Gln769=) n.2369_2370delinsCA c.*146_*147delinsCA (n.*146_*147delinsCA) c.2365_2366delinsCA (p.Gln789=) n.2415_2416delinsCA c.2617_2618delinsCA (p.Gln873=) c.2518_2519delinsCA (p.Gln840=) c.2932_2933delinsCA (p.Gln978=) | |
16 | g.9764768G>A | CA394709378 | GRIN2A | c.2776C>T (p.Gln926Ter) c.2305C>T (p.Gln769Ter) n.2369C>T c.*146C>T (n.*146C>T) c.2365C>T (p.Gln789Ter) n.2415C>T c.2617C>T (p.Gln873Ter) c.2518C>T (p.Gln840Ter) c.2932C>T (p.Gln978Ter) | dbSNP |
16 | g.9764768G>C | CA394709379 | GRIN2A | c.2776C>G (p.Gln926Glu) c.2305C>G (p.Gln769Glu) n.2369C>G c.*146C>G (n.*146C>G) c.2365C>G (p.Gln789Glu) n.2415C>G c.2617C>G (p.Gln873Glu) c.2518C>G (p.Gln840Glu) c.2932C>G (p.Gln978Glu) | dbSNP |
16 | g.9764768G= | CA2206693405 | GRIN2A | c.2776C= (p.Gln926=) c.2305C= (p.Gln769=) n.2369C= c.*146C= (n.*146C=) c.2365C= (p.Gln789=) n.2415C= c.2617C= (p.Gln873=) c.2518C= (p.Gln840=) c.2932C= (p.Gln978=) | |
16 | g.9764768G>T | CA394709380 | GRIN2A | c.2776C>A (p.Gln926Lys) c.2305C>A (p.Gln769Lys) n.2369C>A c.*146C>A (n.*146C>A) c.2365C>A (p.Gln789Lys) n.2415C>A c.2617C>A (p.Gln873Lys) c.2518C>A (p.Gln840Lys) c.2932C>A (p.Gln978Lys) | dbSNP |
16 | g.9764769del | CA915949119 | GRIN2A | c.2776del (p.Gln926LysfsTer16) c.2305del (p.Gln769LysfsTer16) n.2369del c.*146del (n.*146del) c.2365del (p.Gln789LysfsTer16) n.2415del c.2617del (p.Gln873LysfsTer16) c.2518del (p.Gln840LysfsTer16) c.2932del (p.Gln978LysfsTer16) | ClinVar dbSNP |
16 | g.9764769G>A | CA277538612 | GRIN2A | c.2775C>T (p.Ile925=) c.2304C>T (p.Ile768=) n.2368C>T c.*145C>T (n.*145C>T) c.2364C>T (p.Ile788=) n.2414C>T c.2616C>T (p.Ile872=) c.2517C>T (p.Ile839=) c.2931C>T (p.Ile977=) | dbSNP COSMIC |
16 | g.9764769G>C | CA394709381 | GRIN2A | c.2775C>G (p.Ile925Met) c.2304C>G (p.Ile768Met) n.2368C>G c.*145C>G (n.*145C>G) c.2364C>G (p.Ile788Met) n.2414C>G c.2616C>G (p.Ile872Met) c.2517C>G (p.Ile839Met) c.2931C>G (p.Ile977Met) | dbSNP |
16 | g.9764769G= | CA2206693406 | GRIN2A | c.2775C= (p.Ile925=) c.2304C= (p.Ile768=) n.2368C= c.*145C= (n.*145C=) c.2364C= (p.Ile788=) n.2414C= c.2616C= (p.Ile872=) c.2517C= (p.Ile839=) c.2931C= (p.Ile977=) | |
16 | g.9764769G>T | CA493693493 | GRIN2A | c.2775C>A (p.Ile925=) c.2304C>A (p.Ile768=) n.2368C>A c.*145C>A (n.*145C>A) c.2364C>A (p.Ile788=) n.2414C>A c.2616C>A (p.Ile872=) c.2517C>A (p.Ile839=) c.2931C>A (p.Ile977=) | dbSNP |
16 | g.9764770A>C | CA394709382 | GRIN2A | c.2774T>G (p.Ile925Ser) c.2303T>G (p.Ile768Ser) n.2367T>G c.*144T>G (n.*144T>G) c.2363T>G (p.Ile788Ser) n.2413T>G c.2615T>G (p.Ile872Ser) c.2516T>G (p.Ile839Ser) c.2930T>G (p.Ile977Ser) | |
16 | g.9764770A>G | CA394709384 | GRIN2A | c.2774T>C (p.Ile925Thr) c.2303T>C (p.Ile768Thr) n.2367T>C c.*144T>C (n.*144T>C) c.2363T>C (p.Ile788Thr) n.2413T>C c.2615T>C (p.Ile872Thr) c.2516T>C (p.Ile839Thr) c.2930T>C (p.Ile977Thr) | |
16 | g.9764770A>T | CA394709383 | GRIN2A | c.2774T>A (p.Ile925Asn) c.2303T>A (p.Ile768Asn) n.2367T>A c.*144T>A (n.*144T>A) c.2363T>A (p.Ile788Asn) n.2413T>A c.2615T>A (p.Ile872Asn) c.2516T>A (p.Ile839Asn) c.2930T>A (p.Ile977Asn) | ClinVar |
16 | g.9764771T>A | CA394709385 | GRIN2A | c.2773A>T (p.Ile925Phe) c.2302A>T (p.Ile768Phe) n.2366A>T c.*143A>T (n.*143A>T) c.2362A>T (p.Ile788Phe) n.2412A>T c.2614A>T (p.Ile872Phe) c.2515A>T (p.Ile839Phe) c.2929A>T (p.Ile977Phe) | dbSNP |
16 | g.9764771T>C | CA394709386 | GRIN2A | c.2773A>G (p.Ile925Val) c.2302A>G (p.Ile768Val) n.2366A>G c.*143A>G (n.*143A>G) c.2362A>G (p.Ile788Val) n.2412A>G c.2614A>G (p.Ile872Val) c.2515A>G (p.Ile839Val) c.2929A>G (p.Ile977Val) | |
16 | g.9764771T>G | CA394709387 | GRIN2A | c.2773A>C (p.Ile925Leu) c.2302A>C (p.Ile768Leu) n.2366A>C c.*143A>C (n.*143A>C) c.2362A>C (p.Ile788Leu) n.2412A>C c.2614A>C (p.Ile872Leu) c.2515A>C (p.Ile839Leu) c.2929A>C (p.Ile977Leu) | |
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 |