Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.9763108_9769129delCA915949116GRIN2Ac.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
16g.9764752A=CA2206693397GRIN2Ac.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=)
16g.9764752A>CCA394709345GRIN2Ac.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
16g.9764752A>GCA394709346GRIN2Ac.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
16g.9764752A>TCA394709347GRIN2Ac.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)
16g.9764753T>ACA394709348GRIN2Ac.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
16g.9764753T>CCA394709349GRIN2Ac.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
16g.9764753T>GCA394709350GRIN2Ac.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
16g.9764753T=CA2206693398GRIN2Ac.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=)
16g.9764754G>ACA493693473GRIN2Ac.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
16g.9764754G>CCA277538571GRIN2Ac.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
16g.9764754G=CA2206693399GRIN2Ac.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=)
16g.9764754G>TCA493693474GRIN2Ac.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=)
16g.9764755A>CCA394709351GRIN2Ac.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)
16g.9764755A>GCA394709352GRIN2Ac.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)
16g.9764755A>TCA394709353GRIN2Ac.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)
16g.9764756G>ACA394709354GRIN2Ac.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
16g.9764756G>CCA394709356GRIN2Ac.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
16g.9764756G>TCA394709355GRIN2Ac.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
16g.9764757G>ACA493693476GRIN2Ac.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
16g.9764757G>CCA493693477GRIN2Ac.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
16g.9764757G>TCA493693478GRIN2Ac.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
16g.9764758G>ACA7896423GRIN2Ac.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
16g.9764758G>CCA394709357GRIN2Ac.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
16g.9764758G=CA2206693400GRIN2Ac.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=)
16g.9764758G>TCA394709358GRIN2Ac.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
16g.9764759A>CCA394709359GRIN2Ac.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
16g.9764759A>GCA394709360GRIN2Ac.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)
16g.9764759A>TCA394709361GRIN2Ac.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
16g.9764760A=CA2206693401GRIN2Ac.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=)
16g.9764760A>CCA493693482GRIN2Ac.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
16g.9764760A>GCA493693480GRIN2Ac.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
16g.9764760A>TCA493693481GRIN2Ac.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
16g.9764761C>ACA394709364GRIN2Ac.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
16g.9764761C>GCA394709362GRIN2Ac.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
16g.9764761C>TCA394709363GRIN2Ac.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
16g.9764762C>ACA394709365GRIN2Ac.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
16g.9764762C>GCA394709366GRIN2Ac.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
16g.9764762C>TCA394709367GRIN2Ac.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
16g.9764763T>ACA394709368GRIN2Ac.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
16g.9764763T>CCA493693486GRIN2Ac.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=)
16g.9764763T>GCA394709369GRIN2Ac.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)
16g.9764764C>ACA394709371GRIN2Ac.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
16g.9764764C=CA2206693402GRIN2Ac.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=)
16g.9764764C>GCA7896424GRIN2Ac.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
16g.9764764C>TCA394709370GRIN2Ac.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
16g.9764765T>ACA394709372GRIN2Ac.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
16g.9764765T>CCA7896425GRIN2Ac.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
16g.9764765T>GCA493693489GRIN2Ac.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=)
16g.9764765T=CA2206693403GRIN2Ac.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=)
16g.9764766T>ACA394709373GRIN2Ac.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
16g.9764766T>CCA493693490GRIN2Ac.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
16g.9764766T>GCA394709374GRIN2Ac.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)
16g.9764767T>ACA394709375GRIN2Ac.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)
16g.9764767T>CCA394709376GRIN2Ac.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)
16g.9764767T>GCA394709377GRIN2Ac.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)
16g.9764767_9764768delinsTGCA2206693404GRIN2Ac.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=)
16g.9764768G>ACA394709378GRIN2Ac.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
16g.9764768G>CCA394709379GRIN2Ac.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
16g.9764768G=CA2206693405GRIN2Ac.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=)
16g.9764768G>TCA394709380GRIN2Ac.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
16g.9764769delCA915949119GRIN2Ac.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
16g.9764769G>ACA277538612GRIN2Ac.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
16g.9764769G>CCA394709381GRIN2Ac.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
16g.9764769G=CA2206693406GRIN2Ac.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=)
16g.9764769G>TCA493693493GRIN2Ac.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
16g.9764770A>CCA394709382GRIN2Ac.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)
16g.9764770A>GCA394709384GRIN2Ac.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)
16g.9764770A>TCA394709383GRIN2Ac.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
16g.9764771T>ACA394709385GRIN2Ac.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
16g.9764771T>CCA394709386GRIN2Ac.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)
16g.9764771T>GCA394709387GRIN2Ac.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)
16g.9764772G>ACA493693497GRIN2Ac.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
16g.9764772G>CCA394709388GRIN2Ac.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
16g.9764772G>TCA394709389GRIN2Ac.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
16g.9764773A=CA2206693407GRIN2Ac.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=)
16g.9764773A>CCA394709390GRIN2Ac.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)
16g.9764773A>GCA394709391GRIN2Ac.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
16g.9764773A>TCA394709392GRIN2Ac.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)
16g.9764774A=CA2206693408GRIN2Ac.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=)
16g.9764774A>CCA394709393GRIN2Ac.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
16g.9764774A>GCA394709394GRIN2Ac.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)
16g.9764774A>TCA394709395GRIN2Ac.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
16g.9764775G>ACA493693499GRIN2Ac.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
16g.9764775G>CCA394709396GRIN2Ac.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
16g.9764775G=CA2206693409GRIN2Ac.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=)
16g.9764775G>TCA394709397GRIN2Ac.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
16g.9764776T>ACA394709398GRIN2Ac.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)
16g.9764776T>CCA394709400GRIN2Ac.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)
16g.9764776T>GCA394709399GRIN2Ac.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)
16g.9764777C>ACA394709401GRIN2Ac.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
16g.9764777C>GCA394709402GRIN2Ac.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
16g.9764777C>TCA394709403GRIN2Ac.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
16g.9764778A=CA2206693410GRIN2Ac.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=)
16g.9764778A>CCA493693501GRIN2Ac.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=)
16g.9764778A>GCA277538620GRIN2Ac.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
16g.9764778A>TCA493693502GRIN2Ac.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
16g.9764779G>ACA314956GRIN2Ac.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
16g.9764779G>CCA7896426GRIN2Ac.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
16g.9764779G=CA2206693411GRIN2Ac.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=)
16g.9764779G>TCA394709404GRIN2Ac.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)
16g.9764780delCA2695222772GRIN2Ac.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)
16g.9764780C>ACA394709405GRIN2Ac.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
16g.9764780C=CA2206693412GRIN2Ac.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=)
16g.9764780C>GCA394709406GRIN2Ac.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
16g.9764780C>TCA394709407GRIN2Ac.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
16g.9764781A>CCA493693508GRIN2Ac.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=)
16g.9764781A>GCA493693507GRIN2Ac.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=)
16g.9764781A>TCA493693506GRIN2Ac.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
16g.9764782G>ACA394709410GRIN2Ac.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
16g.9764782G>CCA394709409GRIN2Ac.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
16g.9764782G=CA2206693413GRIN2Ac.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=)
16g.9764782G>TCA394709408GRIN2Ac.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)
16g.9764783C>ACA394709411GRIN2Ac.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
16g.9764783C=CA2206693414GRIN2Ac.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=)
16g.9764783C>GCA394709413GRIN2Ac.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
16g.9764783C>TCA394709412GRIN2Ac.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
16g.9764784T>ACA394709414GRIN2Ac.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
16g.9764784T>CCA7896427GRIN2Ac.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
16g.9764784T>GCA394709415GRIN2Ac.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)
16g.9764784T=CA2206693415GRIN2Ac.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=)
16g.9764785C>ACA394709416GRIN2Ac.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)
16g.9764785C>GCA394709418GRIN2Ac.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
16g.9764785C>TCA394709417GRIN2Ac.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
16g.9764786T>ACA394709419GRIN2Ac.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
16g.9764786T>CCA394709420GRIN2Ac.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
16g.9764786T>GCA493693510GRIN2Ac.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=)
16g.9764786T=CA2206693416GRIN2Ac.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=)
16g.9764787T>ACA394709421GRIN2Ac.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
16g.9764787T>CCA493693511GRIN2Ac.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=)
16g.9764787T>GCA394709422GRIN2Ac.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)
16g.9764787T=CA2206693417GRIN2Ac.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=)
16g.9764788T>ACA394709423GRIN2Ac.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
16g.9764788T>CCA394709424GRIN2Ac.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
16g.9764788T>GCA394709425GRIN2Ac.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
16g.9764789T>ACA394709426GRIN2Ac.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
16g.9764789T>CCA394709427GRIN2Ac.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
16g.9764789T>GCA394709428GRIN2Ac.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)
16g.9764789T=CA2206693418GRIN2Ac.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=)
16g.9764790G>ACA493693512GRIN2Ac.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
16g.9764790G>CCA493693513GRIN2Ac.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=)
16g.9764790G>TCA493693514GRIN2Ac.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
16g.9764792delCA2731720191GRIN2Ac.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
16g.9764791G>ACA394709429GRIN2Ac.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
16g.9764791G>CCA394709430GRIN2Ac.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
16g.9764791G>TCA394709431GRIN2Ac.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
16g.9764792G>ACA7896428GRIN2Ac.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
16g.9764792G>CCA394709433GRIN2Ac.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
16g.9764792G=CA2206693419GRIN2Ac.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=)
16g.9764792G>TCA394709432GRIN2Ac.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
16g.9764793T>ACA493693518GRIN2Ac.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
16g.9764793T>CCA493693519GRIN2Ac.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
16g.9764793T>GCA493693520GRIN2Ac.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
16g.9764794G>ACA394709434GRIN2Ac.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
16g.9764794G>CCA394709435GRIN2Ac.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
16g.9764794G=CA2206693420GRIN2Ac.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=)
16g.9764794G>TCA394709436GRIN2Ac.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)
16g.9764795A=CA2206693421GRIN2Ac.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=)
16g.9764795A>CCA16615490GRIN2Ac.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
16g.9764795A>GCA394709437GRIN2Ac.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)
16g.9764795A>TCA394709438GRIN2Ac.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
16g.9764796G>ACA493693521GRIN2Ac.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
16g.9764796G>CCA7896429GRIN2Ac.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
16g.9764796G=CA2206693422GRIN2Ac.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=)
16g.9764796G>TCA394709439GRIN2Ac.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
16g.9764797T>ACA394709440GRIN2Ac.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)
16g.9764797T>CCA7896430GRIN2Ac.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
16g.9764797T>GCA394709441GRIN2Ac.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)
16g.9764797T=CA2206693423GRIN2Ac.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=)
16g.9764798C>ACA394709444GRIN2Ac.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
16g.9764798C>GCA394709443GRIN2Ac.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
16g.9764798C>TCA394709442GRIN2Ac.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
16g.9764799C>ACA394709445GRIN2Ac.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
16g.9764799C=CA2206693424GRIN2Ac.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=)
16g.9764799C>GCA394709446GRIN2Ac.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)
16g.9764799C>TCA394709447GRIN2Ac.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
16g.9764800A=CA2206693425GRIN2Ac.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=)
16g.9764800A>CCA394709448GRIN2Ac.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
16g.9764800A>GCA16615071GRIN2Ac.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
16g.9764800A>TCA394709449GRIN2Ac.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
16g.9764801T>ACA7896431GRIN2Ac.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
16g.9764801T>CCA394709450GRIN2Ac.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
16g.9764801T>GCA394709451GRIN2Ac.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)
16g.9764801T=CA2206693426GRIN2Ac.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=)
16g.9764802T>ACA394709452GRIN2Ac.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)
16g.9764802T>CCA493693524GRIN2Ac.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=)
16g.9764802T>GCA394709453GRIN2Ac.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)
16g.9764803C>ACA394709456GRIN2Ac.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
16g.9764803C>GCA394709455GRIN2Ac.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
16g.9764803C>TCA394709454GRIN2Ac.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
16g.9764804T>ACA394709457GRIN2Ac.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
16g.9764804T>CCA394709458GRIN2Ac.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)
16g.9764804T>GCA493693525GRIN2Ac.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=)
16g.9764804T=CA2206693427GRIN2Ac.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=)
16g.9764805T>ACA493693526GRIN2Ac.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
16g.9764805T>CCA493693527GRIN2Ac.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
16g.9764805T>GCA493693528GRIN2Ac.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=)
16g.9764806G>ACA394709459GRIN2Ac.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
16g.9764806G>CCA394709460GRIN2Ac.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)
16g.9764806G>TCA394709461GRIN2Ac.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
16g.9764809_9764811delCA645372112GRIN2Ac.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)
16g.9764807A>CCA394709462GRIN2Ac.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)
16g.9764807A>GCA394709463GRIN2Ac.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
16g.9764807A>TCA394709464GRIN2Ac.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
16g.9764808G>ACA493693533GRIN2Ac.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
16g.9764808G>CCA493693534GRIN2Ac.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=)
16g.9764808G=CA2206693428GRIN2Ac.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=)
16g.9764808G>TCA7896432GRIN2Ac.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
16g.9764809G>ACA394709465GRIN2Ac.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
16g.9764809G>CCA7896433GRIN2Ac.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
16g.9764809G=CA2206693429GRIN2Ac.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=)
16g.9764809G>TCA394709466GRIN2Ac.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)
16g.9764810A>CCA394709468GRIN2Ac.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
16g.9764810A>GCA394709469GRIN2Ac.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)
16g.9764810A>TCA394709467GRIN2Ac.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
16g.9764811G>ACA493693536GRIN2Ac.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
16g.9764811G>CCA394709471GRIN2Ac.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
16g.9764811G=CA2206693430GRIN2Ac.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=)
16g.9764811G>TCA394709470GRIN2Ac.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
16g.9764812T>ACA394709472GRIN2Ac.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
16g.9764812T>CCA394709473GRIN2Ac.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
16g.9764812T>GCA394709474GRIN2Ac.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
16g.9764813T>ACA394709475GRIN2Ac.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
16g.9764813T>CCA394709476GRIN2Ac.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)
16g.9764813T>GCA394709477GRIN2Ac.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)
16g.9764813_9764822delinsTCATGTTGGACA2206693431GRIN2Ac.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=)
16g.9764814C>ACA394709478GRIN2Ac.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
16g.9764814C>GCA394709479GRIN2Ac.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
16g.9764814C>TCA394709480GRIN2Ac.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
16g.9764818_9764826delCA621175178GRIN2Ac.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
16g.9764815A=CA2206693432GRIN2Ac.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=)
16g.9764815A>CCA394709481GRIN2Ac.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
16g.9764815A>GCA394709482GRIN2Ac.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
16g.9764815A>TCA394709483GRIN2Ac.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
16g.9764816T>ACA394709484GRIN2Ac.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)
16g.9764816T>CCA394709486GRIN2Ac.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
16g.9764816T>GCA394709485GRIN2Ac.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)
16g.9764817G>ACA493693547GRIN2Ac.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
16g.9764817G>CCA394709487GRIN2Ac.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
16g.9764817G>TCA394709488GRIN2Ac.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)
16g.9764818T>ACA394709489GRIN2Ac.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
16g.9764818T>CCA7896434GRIN2Ac.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
16g.9764818T>GCA394709490GRIN2Ac.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)
16g.9764818T=CA2206693433GRIN2Ac.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=)
16g.9764819T>ACA394709491GRIN2Ac.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)
16g.9764819T>CCA394709492GRIN2Ac.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)
16g.9764819T>GCA394709493GRIN2Ac.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)
16g.9764820G>ACA493693549GRIN2Ac.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
16g.9764820G>CCA493693552GRIN2Ac.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=)
16g.9764820G>TCA493693550GRIN2Ac.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
16g.9764821delCA2731721707GRIN2Ac.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
16g.9764821G>ACA394709494GRIN2Ac.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
16g.9764821G>CCA394709495GRIN2Ac.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
16g.9764821G>TCA394709496GRIN2Ac.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
16g.9764822A>CCA394709498GRIN2Ac.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)
16g.9764822A>GCA394709499GRIN2Ac.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
16g.9764822A>TCA394709497GRIN2Ac.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
16g.9764823C>ACA394709500GRIN2Ac.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
16g.9764823C>GCA394709501GRIN2Ac.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
16g.9764823C>TCA394709502GRIN2Ac.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
16g.9764824A>CCA394709503GRIN2Ac.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
16g.9764824A>GCA394709504GRIN2Ac.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)
16g.9764824A>TCA394709505GRIN2Ac.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)
16g.9764825T>ACA394709508GRIN2Ac.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
16g.9764825T>CCA394709506GRIN2Ac.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
16g.9764825T>GCA394709507GRIN2Ac.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)
16g.9764826G>ACA493693558GRIN2Ac.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
16g.9764826G>CCA394709509GRIN2Ac.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
16g.9764826G=CA2206693434GRIN2Ac.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=)
16g.9764826G>TCA394709510GRIN2Ac.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)
16g.9764827C>ACA7896435GRIN2Ac.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
16g.9764827C=CA2206693435GRIN2Ac.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=)
16g.9764827C>GCA394709511GRIN2Ac.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
16g.9764827C>TCA394709512GRIN2Ac.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
16g.9764828T>ACA394709513GRIN2Ac.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)
16g.9764828T>CCA394709515GRIN2Ac.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)
16g.9764828T>GCA394709514GRIN2Ac.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)
16g.9764829G>ACA493693561GRIN2Ac.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
16g.9764829G>CCA493693562GRIN2Ac.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=)
16g.9764829G>TCA493693563GRIN2Ac.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=)
16g.9764830G>ACA394709516GRIN2Ac.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
16g.9764830G>CCA394709517GRIN2Ac.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)
16g.9764830G=CA2206693436GRIN2Ac.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=)
16g.9764830G>TCA394709518GRIN2Ac.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
16g.9764831A=CA2206693437GRIN2Ac.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=)
16g.9764831A>CCA394709519GRIN2Ac.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
16g.9764831A>GCA394709520GRIN2Ac.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)
16g.9764831A>TCA394709521GRIN2Ac.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
16g.9764832A=CA2206693438GRIN2Ac.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=)
16g.9764832A>CCA394709522GRIN2Ac.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)
16g.9764832A>GCA493693570GRIN2Ac.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=)
16g.9764832A>TCA493693572GRIN2Ac.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
16g.9764833A=CA2206693439GRIN2Ac.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=)
16g.9764833A>CCA394709523GRIN2Ac.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
16g.9764833A>GCA7896436GRIN2Ac.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
16g.9764833A>TCA394709524GRIN2Ac.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)
16g.9764834T>ACA394709525GRIN2Ac.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
16g.9764834T>CCA394709526GRIN2Ac.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)
16g.9764834T>GCA394709527GRIN2Ac.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
16g.9764834T=CA2206693440GRIN2Ac.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=)
16g.9764835G>ACA493693574GRIN2Ac.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=)
16g.9764835G>CCA394709529GRIN2Ac.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)
16g.9764835G>TCA394709528GRIN2Ac.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)
16g.9764836T>ACA394709530GRIN2Ac.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)
16g.9764836T>CCA394709532GRIN2Ac.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)
16g.9764836T>GCA394709531GRIN2Ac.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)
16g.9764837T>ACA394709533GRIN2Ac.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)
16g.9764837T>CCA394709534GRIN2Ac.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)
16g.9764837T>GCA394709535GRIN2Ac.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)
16g.9764838T>ACA394709536GRIN2Ac.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)
16g.9764838T>CCA493693577GRIN2Ac.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
16g.9764838T>GCA394709537GRIN2Ac.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
16g.9764839T>ACA394709540GRIN2Ac.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
16g.9764839T>CCA394709539GRIN2Ac.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
16g.9764839T>GCA394709538GRIN2Ac.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)
16g.9764839T=CA2206693441GRIN2Ac.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=)
16g.9764840T>ACA394709541GRIN2Ac.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
16g.9764840T>CCA394709542GRIN2Ac.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)
16g.9764840T>GCA394709543GRIN2Ac.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)
16g.9764840T=CA2206693442GRIN2Ac.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=)
16g.9764841G>ACA493693583GRIN2Ac.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
16g.9764841G>CCA493693585GRIN2Ac.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
16g.9764841G>TCA493693586GRIN2Ac.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
16g.9764842G>ACA394709544GRIN2Ac.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
16g.9764842G>CCA394709545GRIN2Ac.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
16g.9764842G>TCA394709546GRIN2Ac.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
16g.9764843C>ACA394709547GRIN2Ac.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)
16g.9764843C=CA2206693443GRIN2Ac.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=)
16g.9764843C>GCA394709548GRIN2Ac.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
16g.9764843C>TCA7896437GRIN2Ac.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
16g.9764844T>ACA493693588GRIN2Ac.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
16g.9764844T>CCA493693589GRIN2Ac.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=)
16g.9764844T>GCA493693590GRIN2Ac.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
16g.9764845G>ACA394709549GRIN2Ac.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
16g.9764845G>CCA394709550GRIN2Ac.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
16g.9764845G>TCA394709551GRIN2Ac.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
16g.9764846A=CA2206693444GRIN2Ac.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=)
16g.9764846A>CCA394709552GRIN2Ac.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)
16g.9764846A>GCA394709553GRIN2Ac.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
16g.9764846A>TCA394709554GRIN2Ac.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)
16g.9764847C>ACA493693592GRIN2Ac.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=)
16g.9764847C=CA2206693445GRIN2Ac.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=)
16g.9764847C>GCA493693593GRIN2Ac.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=)
16g.9764847C>TCA493693594GRIN2Ac.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
16g.9764848C>ACA394709555GRIN2Ac.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)
16g.9764848C=CA2206693446GRIN2Ac.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=)
16g.9764848C>GCA394709556GRIN2Ac.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
16g.9764848C>TCA7896438GRIN2Ac.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
16g.9764849G>ACA314954GRIN2Ac.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
16g.9764849G>CCA394709557GRIN2Ac.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
16g.9764849G=CA2206693447GRIN2Ac.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=)
16g.9764849G>TCA493693597GRIN2Ac.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
16g.9764850G>ACA291124GRIN2Ac.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
16g.9764850G>CCA493693599GRIN2Ac.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
16g.9764850G=CA2206693448GRIN2Ac.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=)
16g.9764850G>TCA493693598GRIN2Ac.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
16g.9764851A>CCA394709560GRIN2Ac.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)
16g.9764851A>GCA394709558GRIN2Ac.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)
16g.9764851A>TCA394709559GRIN2Ac.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
16g.9764852G>ACA394709561GRIN2Ac.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
16g.9764852G>CCA394709562GRIN2Ac.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
16g.9764852G=CA2206693449GRIN2Ac.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=)
16g.9764852G>TCA394709563GRIN2Ac.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)

Number of alleles fetched