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.9764683C>A | CA394709193 | GRIN2A | c.2861G>T (p.Ser954Ile) c.2390G>T (p.Ser797Ile) n.2454G>T c.*231G>T (n.*231G>T) c.2450G>T (p.Ser817Ile) n.2500G>T c.2702G>T (p.Ser901Ile) c.2603G>T (p.Ser868Ile) c.3017G>T (p.Ser1006Ile) | dbSNP |
16 | g.9764683C>G | CA394709194 | GRIN2A | c.2861G>C (p.Ser954Thr) c.2390G>C (p.Ser797Thr) n.2454G>C c.*231G>C (n.*231G>C) c.2450G>C (p.Ser817Thr) n.2500G>C c.2702G>C (p.Ser901Thr) c.2603G>C (p.Ser868Thr) c.3017G>C (p.Ser1006Thr) | ClinVar dbSNP |
16 | g.9764683C>T | CA394709195 | GRIN2A | c.2861G>A (p.Ser954Asn) c.2390G>A (p.Ser797Asn) n.2454G>A c.*231G>A (n.*231G>A) c.2450G>A (p.Ser817Asn) n.2500G>A c.2702G>A (p.Ser901Asn) c.2603G>A (p.Ser868Asn) c.3017G>A (p.Ser1006Asn) | COSMIC |
16 | g.9764684T>A | CA394709196 | GRIN2A | c.2860A>T (p.Ser954Cys) c.2389A>T (p.Ser797Cys) n.2453A>T c.*230A>T (n.*230A>T) c.2449A>T (p.Ser817Cys) n.2499A>T c.2701A>T (p.Ser901Cys) c.2602A>T (p.Ser868Cys) c.3016A>T (p.Ser1006Cys) | gnomAD v4 |
16 | g.9764684T>C | CA277538426 | GRIN2A | c.2860A>G (p.Ser954Gly) c.2389A>G (p.Ser797Gly) n.2453A>G c.*230A>G (n.*230A>G) c.2449A>G (p.Ser817Gly) n.2499A>G c.2701A>G (p.Ser901Gly) c.2602A>G (p.Ser868Gly) c.3016A>G (p.Ser1006Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764684T>G | CA394709197 | GRIN2A | c.2860A>C (p.Ser954Arg) c.2389A>C (p.Ser797Arg) n.2453A>C c.*230A>C (n.*230A>C) c.2449A>C (p.Ser817Arg) n.2499A>C c.2701A>C (p.Ser901Arg) c.2602A>C (p.Ser868Arg) c.3016A>C (p.Ser1006Arg) | |
16 | g.9764684T= | CA2206693356 | GRIN2A | c.2860A= (p.Ser954=) c.2389A= (p.Ser797=) n.2453A= c.*230A= (n.*230A=) c.2449A= (p.Ser817=) n.2499A= c.2701A= (p.Ser901=) c.2602A= (p.Ser868=) c.3016A= (p.Ser1006=) | |
16 | g.9764685C>A | CA394709198 | GRIN2A | c.2859G>T (p.Glu953Asp) c.2388G>T (p.Glu796Asp) n.2452G>T c.*229G>T (n.*229G>T) c.2448G>T (p.Glu816Asp) n.2498G>T c.2700G>T (p.Glu900Asp) c.2601G>T (p.Glu867Asp) c.3015G>T (p.Glu1005Asp) | dbSNP |
16 | g.9764685C= | CA2206693357 | GRIN2A | c.2859G= (p.Glu953=) c.2388G= (p.Glu796=) n.2452G= c.*229G= (n.*229G=) c.2448G= (p.Glu816=) n.2498G= c.2700G= (p.Glu900=) c.2601G= (p.Glu867=) c.3015G= (p.Glu1005=) | |
16 | g.9764685C>G | CA7896412 | GRIN2A | c.2859G>C (p.Glu953Asp) c.2388G>C (p.Glu796Asp) n.2452G>C c.*229G>C (n.*229G>C) c.2448G>C (p.Glu816Asp) n.2498G>C c.2700G>C (p.Glu900Asp) c.2601G>C (p.Glu867Asp) c.3015G>C (p.Glu1005Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764685C>T | CA277538430 | GRIN2A | c.2859G>A (p.Glu953=) c.2388G>A (p.Glu796=) n.2452G>A c.*229G>A (n.*229G>A) c.2448G>A (p.Glu816=) n.2498G>A c.2700G>A (p.Glu900=) c.2601G>A (p.Glu867=) c.3015G>A (p.Glu1005=) | dbSNP |
16 | g.9764686T>A | CA394709201 | GRIN2A | c.2858A>T (p.Glu953Val) c.2387A>T (p.Glu796Val) n.2451A>T c.*228A>T (n.*228A>T) c.2447A>T (p.Glu816Val) n.2497A>T c.2699A>T (p.Glu900Val) c.2600A>T (p.Glu867Val) c.3014A>T (p.Glu1005Val) | |
16 | g.9764686T>C | CA394709200 | GRIN2A | c.2858A>G (p.Glu953Gly) c.2387A>G (p.Glu796Gly) n.2451A>G c.*228A>G (n.*228A>G) c.2447A>G (p.Glu816Gly) n.2497A>G c.2699A>G (p.Glu900Gly) c.2600A>G (p.Glu867Gly) c.3014A>G (p.Glu1005Gly) | |
16 | g.9764686T>G | CA394709199 | GRIN2A | c.2858A>C (p.Glu953Ala) c.2387A>C (p.Glu796Ala) n.2451A>C c.*228A>C (n.*228A>C) c.2447A>C (p.Glu816Ala) n.2497A>C c.2699A>C (p.Glu900Ala) c.2600A>C (p.Glu867Ala) c.3014A>C (p.Glu1005Ala) | |
16 | g.9764687C>A | CA394709202 | GRIN2A | c.2857G>T (p.Glu953Ter) c.2386G>T (p.Glu796Ter) n.2450G>T c.*227G>T (n.*227G>T) c.2446G>T (p.Glu816Ter) n.2496G>T c.2698G>T (p.Glu900Ter) c.2599G>T (p.Glu867Ter) c.3013G>T (p.Glu1005Ter) | dbSNP |
16 | g.9764687C= | CA2206693358 | GRIN2A | c.2857G= (p.Glu953=) c.2386G= (p.Glu796=) n.2450G= c.*227G= (n.*227G=) c.2446G= (p.Glu816=) n.2496G= c.2698G= (p.Glu900=) c.2599G= (p.Glu867=) c.3013G= (p.Glu1005=) | |
16 | g.9764687C>G | CA394709203 | GRIN2A | c.2857G>C (p.Glu953Gln) c.2386G>C (p.Glu796Gln) n.2450G>C c.*227G>C (n.*227G>C) c.2446G>C (p.Glu816Gln) n.2496G>C c.2698G>C (p.Glu900Gln) c.2599G>C (p.Glu867Gln) c.3013G>C (p.Glu1005Gln) | dbSNP COSMIC |
16 | g.9764687C>T | CA394709204 | GRIN2A | c.2857G>A (p.Glu953Lys) c.2386G>A (p.Glu796Lys) n.2450G>A c.*227G>A (n.*227G>A) c.2446G>A (p.Glu816Lys) n.2496G>A c.2698G>A (p.Glu900Lys) c.2599G>A (p.Glu867Lys) c.3013G>A (p.Glu1005Lys) | dbSNP |
16 | g.9764688T>A | CA394709205 | GRIN2A | c.2856A>T (p.Lys952Asn) c.2385A>T (p.Lys795Asn) n.2449A>T c.*226A>T (n.*226A>T) c.2445A>T (p.Lys815Asn) n.2495A>T c.2697A>T (p.Lys899Asn) c.2598A>T (p.Lys866Asn) c.3012A>T (p.Lys1004Asn) | |
16 | g.9764688T>C | CA493693243 | GRIN2A | c.2856A>G (p.Lys952=) c.2385A>G (p.Lys795=) n.2449A>G c.*226A>G (n.*226A>G) c.2445A>G (p.Lys815=) n.2495A>G c.2697A>G (p.Lys899=) c.2598A>G (p.Lys866=) c.3012A>G (p.Lys1004=) | dbSNP COSMIC |
16 | g.9764688T>G | CA394709206 | GRIN2A | c.2856A>C (p.Lys952Asn) c.2385A>C (p.Lys795Asn) n.2449A>C c.*226A>C (n.*226A>C) c.2445A>C (p.Lys815Asn) n.2495A>C c.2697A>C (p.Lys899Asn) c.2598A>C (p.Lys866Asn) c.3012A>C (p.Lys1004Asn) | dbSNP gnomAD v4 |
16 | g.9764688T= | CA2206693359 | GRIN2A | c.2856A= (p.Lys952=) c.2385A= (p.Lys795=) n.2449A= c.*226A= (n.*226A=) c.2445A= (p.Lys815=) n.2495A= c.2697A= (p.Lys899=) c.2598A= (p.Lys866=) c.3012A= (p.Lys1004=) | |
16 | g.9764689T>A | CA394709207 | GRIN2A | c.2855A>T (p.Lys952Ile) c.2384A>T (p.Lys795Ile) n.2448A>T c.*225A>T (n.*225A>T) c.2444A>T (p.Lys815Ile) n.2494A>T c.2696A>T (p.Lys899Ile) c.2597A>T (p.Lys866Ile) c.3011A>T (p.Lys1004Ile) | |
16 | g.9764689T>C | CA394709208 | GRIN2A | c.2855A>G (p.Lys952Arg) c.2384A>G (p.Lys795Arg) n.2448A>G c.*225A>G (n.*225A>G) c.2444A>G (p.Lys815Arg) n.2494A>G c.2696A>G (p.Lys899Arg) c.2597A>G (p.Lys866Arg) c.3011A>G (p.Lys1004Arg) | dbSNP |
16 | g.9764689T>G | CA394709209 | GRIN2A | c.2855A>C (p.Lys952Thr) c.2384A>C (p.Lys795Thr) n.2448A>C c.*225A>C (n.*225A>C) c.2444A>C (p.Lys815Thr) n.2494A>C c.2696A>C (p.Lys899Thr) c.2597A>C (p.Lys866Thr) c.3011A>C (p.Lys1004Thr) | |
16 | g.9764689T= | CA2206693360 | GRIN2A | c.2855A= (p.Lys952=) c.2384A= (p.Lys795=) n.2448A= c.*225A= (n.*225A=) c.2444A= (p.Lys815=) n.2494A= c.2696A= (p.Lys899=) c.2597A= (p.Lys866=) c.3011A= (p.Lys1004=) | |
16 | g.9764690T>A | CA394709210 | GRIN2A | c.2854A>T (p.Lys952Ter) c.2383A>T (p.Lys795Ter) n.2447A>T c.*224A>T (n.*224A>T) c.2443A>T (p.Lys815Ter) n.2493A>T c.2695A>T (p.Lys899Ter) c.2596A>T (p.Lys866Ter) c.3010A>T (p.Lys1004Ter) | dbSNP |
16 | g.9764690T>C | CA394709211 | GRIN2A | c.2854A>G (p.Lys952Glu) c.2383A>G (p.Lys795Glu) n.2447A>G c.*224A>G (n.*224A>G) c.2443A>G (p.Lys815Glu) n.2493A>G c.2695A>G (p.Lys899Glu) c.2596A>G (p.Lys866Glu) c.3010A>G (p.Lys1004Glu) | |
16 | g.9764690T>G | CA394709212 | GRIN2A | c.2854A>C (p.Lys952Gln) c.2383A>C (p.Lys795Gln) n.2447A>C c.*224A>C (n.*224A>C) c.2443A>C (p.Lys815Gln) n.2493A>C c.2695A>C (p.Lys899Gln) c.2596A>C (p.Lys866Gln) c.3010A>C (p.Lys1004Gln) | |
16 | g.9764690T= | CA2206693361 | GRIN2A | c.2854A= (p.Lys952=) c.2383A= (p.Lys795=) n.2447A= c.*224A= (n.*224A=) c.2443A= (p.Lys815=) n.2493A= c.2695A= (p.Lys899=) c.2596A= (p.Lys866=) c.3010A= (p.Lys1004=) | |
16 | g.9764691C>A | CA493693246 | GRIN2A | c.2853G>T (p.Gly951=) c.2382G>T (p.Gly794=) n.2446G>T c.*223G>T (n.*223G>T) c.2442G>T (p.Gly814=) n.2492G>T c.2694G>T (p.Gly898=) c.2595G>T (p.Gly865=) c.3009G>T (p.Gly1003=) | gnomAD v4 |
16 | g.9764691C>G | CA493693249 | GRIN2A | c.2853G>C (p.Gly951=) c.2382G>C (p.Gly794=) n.2446G>C c.*223G>C (n.*223G>C) c.2442G>C (p.Gly814=) n.2492G>C c.2694G>C (p.Gly898=) c.2595G>C (p.Gly865=) c.3009G>C (p.Gly1003=) | dbSNP gnomAD v4 |
16 | g.9764691C>T | CA493693250 | GRIN2A | c.2853G>A (p.Gly951=) c.2382G>A (p.Gly794=) n.2446G>A c.*223G>A (n.*223G>A) c.2442G>A (p.Gly814=) n.2492G>A c.2694G>A (p.Gly898=) c.2595G>A (p.Gly865=) c.3009G>A (p.Gly1003=) | dbSNP |
16 | g.9764692C>A | CA314923 | GRIN2A | c.2852G>T (p.Gly951Val) c.2381G>T (p.Gly794Val) n.2445G>T c.*222G>T (n.*222G>T) c.2441G>T (p.Gly814Val) n.2491G>T c.2693G>T (p.Gly898Val) c.2594G>T (p.Gly865Val) c.3008G>T (p.Gly1003Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764692C= | CA2206693362 | GRIN2A | c.2852G= (p.Gly951=) c.2381G= (p.Gly794=) n.2445G= c.*222G= (n.*222G=) c.2441G= (p.Gly814=) n.2491G= c.2693G= (p.Gly898=) c.2594G= (p.Gly865=) c.3008G= (p.Gly1003=) | |
16 | g.9764692C>G | CA394709213 | GRIN2A | c.2852G>C (p.Gly951Ala) c.2381G>C (p.Gly794Ala) n.2445G>C c.*222G>C (n.*222G>C) c.2441G>C (p.Gly814Ala) n.2491G>C c.2693G>C (p.Gly898Ala) c.2594G>C (p.Gly865Ala) c.3008G>C (p.Gly1003Ala) | dbSNP |
16 | g.9764692C>T | CA394709214 | GRIN2A | c.2852G>A (p.Gly951Glu) c.2381G>A (p.Gly794Glu) n.2445G>A c.*222G>A (n.*222G>A) c.2441G>A (p.Gly814Glu) n.2491G>A c.2693G>A (p.Gly898Glu) c.2594G>A (p.Gly865Glu) c.3008G>A (p.Gly1003Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.9764693C>A | CA394709217 | GRIN2A | c.2851G>T (p.Gly951Trp) c.2380G>T (p.Gly794Trp) n.2444G>T c.*221G>T (n.*221G>T) c.2440G>T (p.Gly814Trp) n.2490G>T c.2692G>T (p.Gly898Trp) c.2593G>T (p.Gly865Trp) c.3007G>T (p.Gly1003Trp) | dbSNP gnomAD v4 |
16 | g.9764693C>G | CA394709216 | GRIN2A | c.2851G>C (p.Gly951Arg) c.2380G>C (p.Gly794Arg) n.2444G>C c.*221G>C (n.*221G>C) c.2440G>C (p.Gly814Arg) n.2490G>C c.2692G>C (p.Gly898Arg) c.2593G>C (p.Gly865Arg) c.3007G>C (p.Gly1003Arg) | dbSNP |
16 | g.9764693C>T | CA394709215 | GRIN2A | c.2851G>A (p.Gly951Arg) c.2380G>A (p.Gly794Arg) n.2444G>A c.*221G>A (n.*221G>A) c.2440G>A (p.Gly814Arg) n.2490G>A c.2692G>A (p.Gly898Arg) c.2593G>A (p.Gly865Arg) c.3007G>A (p.Gly1003Arg) | dbSNP |
16 | g.9764694C>A | CA394709218 | GRIN2A | c.2850G>T (p.Gln950His) c.2379G>T (p.Gln793His) n.2443G>T c.*220G>T (n.*220G>T) c.2439G>T (p.Gln813His) n.2489G>T c.2691G>T (p.Gln897His) c.2592G>T (p.Gln864His) c.3006G>T (p.Gln1002His) | |
16 | g.9764694C>G | CA394709219 | GRIN2A | c.2850G>C (p.Gln950His) c.2379G>C (p.Gln793His) n.2443G>C c.*220G>C (n.*220G>C) c.2439G>C (p.Gln813His) n.2489G>C c.2691G>C (p.Gln897His) c.2592G>C (p.Gln864His) c.3006G>C (p.Gln1002His) | dbSNP |
16 | g.9764694C>T | CA493693254 | GRIN2A | c.2850G>A (p.Gln950=) c.2379G>A (p.Gln793=) n.2443G>A c.*220G>A (n.*220G>A) c.2439G>A (p.Gln813=) n.2489G>A c.2691G>A (p.Gln897=) c.2592G>A (p.Gln864=) c.3006G>A (p.Gln1002=) | dbSNP |
16 | g.9764695T>A | CA394709220 | GRIN2A | c.2849A>T (p.Gln950Leu) c.2378A>T (p.Gln793Leu) n.2442A>T c.*219A>T (n.*219A>T) c.2438A>T (p.Gln813Leu) n.2488A>T c.2690A>T (p.Gln897Leu) c.2591A>T (p.Gln864Leu) c.3005A>T (p.Gln1002Leu) | dbSNP |
16 | g.9764695T>C | CA394709221 | GRIN2A | c.2849A>G (p.Gln950Arg) c.2378A>G (p.Gln793Arg) n.2442A>G c.*219A>G (n.*219A>G) c.2438A>G (p.Gln813Arg) n.2488A>G c.2690A>G (p.Gln897Arg) c.2591A>G (p.Gln864Arg) c.3005A>G (p.Gln1002Arg) | dbSNP |
16 | g.9764695T>G | CA394709222 | GRIN2A | c.2849A>C (p.Gln950Pro) c.2378A>C (p.Gln793Pro) n.2442A>C c.*219A>C (n.*219A>C) c.2438A>C (p.Gln813Pro) n.2488A>C c.2690A>C (p.Gln897Pro) c.2591A>C (p.Gln864Pro) c.3005A>C (p.Gln1002Pro) | |
16 | g.9764696G>A | CA314952 | GRIN2A | c.2848C>T (p.Gln950Ter) c.2377C>T (p.Gln793Ter) n.2441C>T c.*218C>T (n.*218C>T) c.2437C>T (p.Gln813Ter) n.2487C>T c.2689C>T (p.Gln897Ter) c.2590C>T (p.Gln864Ter) c.3004C>T (p.Gln1002Ter) | dbSNP |
16 | g.9764696G>C | CA394709223 | GRIN2A | c.2848C>G (p.Gln950Glu) c.2377C>G (p.Gln793Glu) n.2441C>G c.*218C>G (n.*218C>G) c.2437C>G (p.Gln813Glu) n.2487C>G c.2689C>G (p.Gln897Glu) c.2590C>G (p.Gln864Glu) c.3004C>G (p.Gln1002Glu) | dbSNP COSMIC |
16 | g.9764696G= | CA2206693363 | GRIN2A | c.2848C= (p.Gln950=) c.2377C= (p.Gln793=) n.2441C= c.*218C= (n.*218C=) c.2437C= (p.Gln813=) n.2487C= c.2689C= (p.Gln897=) c.2590C= (p.Gln864=) c.3004C= (p.Gln1002=) | |
16 | g.9764696G>T | CA394709224 | GRIN2A | c.2848C>A (p.Gln950Lys) c.2377C>A (p.Gln793Lys) n.2441C>A c.*218C>A (n.*218C>A) c.2437C>A (p.Gln813Lys) n.2487C>A c.2689C>A (p.Gln897Lys) c.2590C>A (p.Gln864Lys) c.3004C>A (p.Gln1002Lys) | dbSNP |
16 | g.9764697A>C | CA394709225 | GRIN2A | c.2847T>G (p.Phe949Leu) c.2376T>G (p.Phe792Leu) n.2440T>G c.*217T>G (n.*217T>G) c.2436T>G (p.Phe812Leu) n.2486T>G c.2688T>G (p.Phe896Leu) c.2589T>G (p.Phe863Leu) c.3003T>G (p.Phe1001Leu) | |
16 | g.9764697A>G | CA493693257 | GRIN2A | c.2847T>C (p.Phe949=) c.2376T>C (p.Phe792=) n.2440T>C c.*217T>C (n.*217T>C) c.2436T>C (p.Phe812=) n.2486T>C c.2688T>C (p.Phe896=) c.2589T>C (p.Phe863=) c.3003T>C (p.Phe1001=) | |
16 | g.9764697A>T | CA394709226 | GRIN2A | c.2847T>A (p.Phe949Leu) c.2376T>A (p.Phe792Leu) n.2440T>A c.*217T>A (n.*217T>A) c.2436T>A (p.Phe812Leu) n.2486T>A c.2688T>A (p.Phe896Leu) c.2589T>A (p.Phe863Leu) c.3003T>A (p.Phe1001Leu) | dbSNP |
16 | g.9764698A>C | CA394709227 | GRIN2A | c.2846T>G (p.Phe949Cys) c.2375T>G (p.Phe792Cys) n.2439T>G c.*216T>G (n.*216T>G) c.2435T>G (p.Phe812Cys) n.2485T>G c.2687T>G (p.Phe896Cys) c.2588T>G (p.Phe863Cys) c.3002T>G (p.Phe1001Cys) | |
16 | g.9764698A>G | CA394709228 | GRIN2A | c.2846T>C (p.Phe949Ser) c.2375T>C (p.Phe792Ser) n.2439T>C c.*216T>C (n.*216T>C) c.2435T>C (p.Phe812Ser) n.2485T>C c.2687T>C (p.Phe896Ser) c.2588T>C (p.Phe863Ser) c.3002T>C (p.Phe1001Ser) | |
16 | g.9764698A>T | CA394709229 | GRIN2A | c.2846T>A (p.Phe949Tyr) c.2375T>A (p.Phe792Tyr) n.2439T>A c.*216T>A (n.*216T>A) c.2435T>A (p.Phe812Tyr) n.2485T>A c.2687T>A (p.Phe896Tyr) c.2588T>A (p.Phe863Tyr) c.3002T>A (p.Phe1001Tyr) | |
16 | g.9764699A>C | CA394709232 | GRIN2A | c.2845T>G (p.Phe949Val) c.2374T>G (p.Phe792Val) n.2438T>G c.*215T>G (n.*215T>G) c.2434T>G (p.Phe812Val) n.2484T>G c.2686T>G (p.Phe896Val) c.2587T>G (p.Phe863Val) c.3001T>G (p.Phe1001Val) | |
16 | g.9764699A>G | CA394709231 | GRIN2A | c.2845T>C (p.Phe949Leu) c.2374T>C (p.Phe792Leu) n.2438T>C c.*215T>C (n.*215T>C) c.2434T>C (p.Phe812Leu) n.2484T>C c.2686T>C (p.Phe896Leu) c.2587T>C (p.Phe863Leu) c.3001T>C (p.Phe1001Leu) | |
16 | g.9764699A>T | CA394709230 | GRIN2A | c.2845T>A (p.Phe949Ile) c.2374T>A (p.Phe792Ile) n.2438T>A c.*215T>A (n.*215T>A) c.2434T>A (p.Phe812Ile) n.2484T>A c.2686T>A (p.Phe896Ile) c.2587T>A (p.Phe863Ile) c.3001T>A (p.Phe1001Ile) | dbSNP |
16 | g.9764700G>A | CA493693260 | GRIN2A | c.2844C>T (p.Ser948=) c.2373C>T (p.Ser791=) n.2437C>T c.*214C>T (n.*214C>T) c.2433C>T (p.Ser811=) n.2483C>T c.2685C>T (p.Ser895=) c.2586C>T (p.Ser862=) c.3000C>T (p.Ser1000=) | dbSNP |
16 | g.9764700G>C | CA493693261 | GRIN2A | c.2844C>G (p.Ser948=) c.2373C>G (p.Ser791=) n.2437C>G c.*214C>G (n.*214C>G) c.2433C>G (p.Ser811=) n.2483C>G c.2685C>G (p.Ser895=) c.2586C>G (p.Ser862=) c.3000C>G (p.Ser1000=) | dbSNP |
16 | g.9764700G>T | CA493693262 | GRIN2A | c.2844C>A (p.Ser948=) c.2373C>A (p.Ser791=) n.2437C>A c.*214C>A (n.*214C>A) c.2433C>A (p.Ser811=) n.2483C>A c.2685C>A (p.Ser895=) c.2586C>A (p.Ser862=) c.3000C>A (p.Ser1000=) | |
16 | g.9764701del | CA2580613421 | GRIN2A | c.2844del (p.Gln950ArgfsTer11) c.2373del (p.Gln793ArgfsTer11) n.2437del c.*214del (n.*214del) c.2433del (p.Gln813ArgfsTer11) n.2483del c.2685del (p.Gln897ArgfsTer11) c.2586del (p.Gln864ArgfsTer11) c.3000del (p.Gln1002ArgfsTer11) | ClinVar |
16 | g.9764701G>A | CA394709233 | GRIN2A | c.2843C>T (p.Ser948Phe) c.2372C>T (p.Ser791Phe) n.2436C>T c.*213C>T (n.*213C>T) c.2432C>T (p.Ser811Phe) n.2482C>T c.2684C>T (p.Ser895Phe) c.2585C>T (p.Ser862Phe) c.2999C>T (p.Ser1000Phe) | dbSNP gnomAD v4 |
16 | g.9764701G>C | CA394709234 | GRIN2A | c.2843C>G (p.Ser948Cys) c.2372C>G (p.Ser791Cys) n.2436C>G c.*213C>G (n.*213C>G) c.2432C>G (p.Ser811Cys) n.2482C>G c.2684C>G (p.Ser895Cys) c.2585C>G (p.Ser862Cys) c.2999C>G (p.Ser1000Cys) | dbSNP |
16 | g.9764701G>T | CA394709235 | GRIN2A | c.2843C>A (p.Ser948Tyr) c.2372C>A (p.Ser791Tyr) n.2436C>A c.*213C>A (n.*213C>A) c.2432C>A (p.Ser811Tyr) n.2482C>A c.2684C>A (p.Ser895Tyr) c.2585C>A (p.Ser862Tyr) c.2999C>A (p.Ser1000Tyr) | dbSNP |
16 | g.9764702A= | CA2206693364 | GRIN2A | c.2842T= (p.Ser948=) c.2371T= (p.Ser791=) n.2435T= c.*212T= (n.*212T=) c.2431T= (p.Ser811=) n.2481T= c.2683T= (p.Ser895=) c.2584T= (p.Ser862=) c.2998T= (p.Ser1000=) | |
16 | g.9764702A>C | CA394709236 | GRIN2A | c.2842T>G (p.Ser948Ala) c.2371T>G (p.Ser791Ala) n.2435T>G c.*212T>G (n.*212T>G) c.2431T>G (p.Ser811Ala) n.2481T>G c.2683T>G (p.Ser895Ala) c.2584T>G (p.Ser862Ala) c.2998T>G (p.Ser1000Ala) | dbSNP |
16 | g.9764702A>G | CA394709237 | GRIN2A | c.2842T>C (p.Ser948Pro) c.2371T>C (p.Ser791Pro) n.2435T>C c.*212T>C (n.*212T>C) c.2431T>C (p.Ser811Pro) n.2481T>C c.2683T>C (p.Ser895Pro) c.2584T>C (p.Ser862Pro) c.2998T>C (p.Ser1000Pro) | dbSNP gnomAD v4 |
16 | g.9764702A>T | CA394709238 | GRIN2A | c.2842T>A (p.Ser948Thr) c.2371T>A (p.Ser791Thr) n.2435T>A c.*212T>A (n.*212T>A) c.2431T>A (p.Ser811Thr) n.2481T>A c.2683T>A (p.Ser895Thr) c.2584T>A (p.Ser862Thr) c.2998T>A (p.Ser1000Thr) | ClinVar dbSNP |
16 | g.9764703C>A | CA394709239 | GRIN2A | c.2841G>T (p.Arg947Ser) c.2370G>T (p.Arg790Ser) n.2434G>T c.*211G>T (n.*211G>T) c.2430G>T (p.Arg810Ser) n.2480G>T c.2682G>T (p.Arg894Ser) c.2583G>T (p.Arg861Ser) c.2997G>T (p.Arg999Ser) | dbSNP gnomAD v4 |
16 | g.9764703C= | CA2206693365 | GRIN2A | c.2841G= (p.Arg947=) c.2370G= (p.Arg790=) n.2434G= c.*211G= (n.*211G=) c.2430G= (p.Arg810=) n.2480G= c.2682G= (p.Arg894=) c.2583G= (p.Arg861=) c.2997G= (p.Arg999=) | |
16 | g.9764703C>G | CA394709240 | GRIN2A | c.2841G>C (p.Arg947Ser) c.2370G>C (p.Arg790Ser) n.2434G>C c.*211G>C (n.*211G>C) c.2430G>C (p.Arg810Ser) n.2480G>C c.2682G>C (p.Arg894Ser) c.2583G>C (p.Arg861Ser) c.2997G>C (p.Arg999Ser) | dbSNP |
16 | g.9764703C>T | CA493693266 | GRIN2A | c.2841G>A (p.Arg947=) c.2370G>A (p.Arg790=) n.2434G>A c.*211G>A (n.*211G>A) c.2430G>A (p.Arg810=) n.2480G>A c.2682G>A (p.Arg894=) c.2583G>A (p.Arg861=) c.2997G>A (p.Arg999=) | dbSNP gnomAD v4 |
16 | g.9764704C>A | CA394709241 | GRIN2A | c.2840G>T (p.Arg947Met) c.2369G>T (p.Arg790Met) n.2433G>T c.*210G>T (n.*210G>T) c.2429G>T (p.Arg810Met) n.2479G>T c.2681G>T (p.Arg894Met) c.2582G>T (p.Arg861Met) c.2996G>T (p.Arg999Met) | dbSNP |
16 | g.9764704C>G | CA394709242 | GRIN2A | c.2840G>C (p.Arg947Thr) c.2369G>C (p.Arg790Thr) n.2433G>C c.*210G>C (n.*210G>C) c.2429G>C (p.Arg810Thr) n.2479G>C c.2681G>C (p.Arg894Thr) c.2582G>C (p.Arg861Thr) c.2996G>C (p.Arg999Thr) | dbSNP gnomAD v4 |
16 | g.9764704C>T | CA394709243 | GRIN2A | c.2840G>A (p.Arg947Lys) c.2369G>A (p.Arg790Lys) n.2433G>A c.*210G>A (n.*210G>A) c.2429G>A (p.Arg810Lys) n.2479G>A c.2681G>A (p.Arg894Lys) c.2582G>A (p.Arg861Lys) c.2996G>A (p.Arg999Lys) | dbSNP gnomAD v4 |
16 | g.9764705T>A | CA394709244 | GRIN2A | c.2839A>T (p.Arg947Trp) c.2368A>T (p.Arg790Trp) n.2432A>T c.*209A>T (n.*209A>T) c.2428A>T (p.Arg810Trp) n.2478A>T c.2680A>T (p.Arg894Trp) c.2581A>T (p.Arg861Trp) c.2995A>T (p.Arg999Trp) | dbSNP |
16 | g.9764705T>C | CA394709245 | GRIN2A | c.2839A>G (p.Arg947Gly) c.2368A>G (p.Arg790Gly) n.2432A>G c.*209A>G (n.*209A>G) c.2428A>G (p.Arg810Gly) n.2478A>G c.2680A>G (p.Arg894Gly) c.2581A>G (p.Arg861Gly) c.2995A>G (p.Arg999Gly) | dbSNP |
16 | g.9764705T>G | CA493693269 | GRIN2A | c.2839A>C (p.Arg947=) c.2368A>C (p.Arg790=) n.2432A>C c.*209A>C (n.*209A>C) c.2428A>C (p.Arg810=) n.2478A>C c.2680A>C (p.Arg894=) c.2581A>C (p.Arg861=) c.2995A>C (p.Arg999=) | |
16 | g.9764708_9764710dup | CA2590992970 | GRIN2A | c.2837_2839dup (p.Asn946_Arg947insAsn) c.2366_2368dup (p.Asn789_Arg790insAsn) n.2430_2432dup c.*207_*209dup (n.*207_*209dup) c.2426_2428dup (p.Asn809_Arg810insAsn) n.2476_2478dup c.2678_2680dup (p.Asn893_Arg894insAsn) c.2579_2581dup (p.Asn860_Arg861insAsn) c.2993_2995dup (p.Asn998_Arg999insAsn) | gnomAD v3 gnomAD v4 |
16 | g.9764706G>A | CA277538458 | GRIN2A | c.2838C>T (p.Asn946=) c.2367C>T (p.Asn789=) n.2431C>T c.*208C>T (n.*208C>T) c.2427C>T (p.Asn809=) n.2477C>T c.2679C>T (p.Asn893=) c.2580C>T (p.Asn860=) c.2994C>T (p.Asn998=) | ClinVar dbSNP gnomAD v4 |
16 | g.9764706G>C | CA394709247 | GRIN2A | c.2838C>G (p.Asn946Lys) c.2367C>G (p.Asn789Lys) n.2431C>G c.*208C>G (n.*208C>G) c.2427C>G (p.Asn809Lys) n.2477C>G c.2679C>G (p.Asn893Lys) c.2580C>G (p.Asn860Lys) c.2994C>G (p.Asn998Lys) | |
16 | g.9764706G= | CA2206693366 | GRIN2A | c.2838C= (p.Asn946=) c.2367C= (p.Asn789=) n.2431C= c.*208C= (n.*208C=) c.2427C= (p.Asn809=) n.2477C= c.2679C= (p.Asn893=) c.2580C= (p.Asn860=) c.2994C= (p.Asn998=) | |
16 | g.9764706G>T | CA394709246 | GRIN2A | c.2838C>A (p.Asn946Lys) c.2367C>A (p.Asn789Lys) n.2431C>A c.*208C>A (n.*208C>A) c.2427C>A (p.Asn809Lys) n.2477C>A c.2679C>A (p.Asn893Lys) c.2580C>A (p.Asn860Lys) c.2994C>A (p.Asn998Lys) | gnomAD v4 |
16 | g.9764707T>A | CA394709248 | GRIN2A | c.2837A>T (p.Asn946Ile) c.2366A>T (p.Asn789Ile) n.2430A>T c.*207A>T (n.*207A>T) c.2426A>T (p.Asn809Ile) n.2476A>T c.2678A>T (p.Asn893Ile) c.2579A>T (p.Asn860Ile) c.2993A>T (p.Asn998Ile) | dbSNP |
16 | g.9764707T>C | CA394709250 | GRIN2A | c.2837A>G (p.Asn946Ser) c.2366A>G (p.Asn789Ser) n.2430A>G c.*207A>G (n.*207A>G) c.2426A>G (p.Asn809Ser) n.2476A>G c.2678A>G (p.Asn893Ser) c.2579A>G (p.Asn860Ser) c.2993A>G (p.Asn998Ser) | dbSNP gnomAD v4 |
16 | g.9764707T>G | CA394709249 | GRIN2A | c.2837A>C (p.Asn946Thr) c.2366A>C (p.Asn789Thr) n.2430A>C c.*207A>C (n.*207A>C) c.2426A>C (p.Asn809Thr) n.2476A>C c.2678A>C (p.Asn893Thr) c.2579A>C (p.Asn860Thr) c.2993A>C (p.Asn998Thr) | dbSNP |
16 | g.9764708T>A | CA394709251 | GRIN2A | c.2836A>T (p.Asn946Tyr) c.2365A>T (p.Asn789Tyr) n.2429A>T c.*206A>T (n.*206A>T) c.2425A>T (p.Asn809Tyr) n.2475A>T c.2677A>T (p.Asn893Tyr) c.2578A>T (p.Asn860Tyr) c.2992A>T (p.Asn998Tyr) | dbSNP |
16 | g.9764708T>C | CA394709252 | GRIN2A | c.2836A>G (p.Asn946Asp) c.2365A>G (p.Asn789Asp) n.2429A>G c.*206A>G (n.*206A>G) c.2425A>G (p.Asn809Asp) n.2475A>G c.2677A>G (p.Asn893Asp) c.2578A>G (p.Asn860Asp) c.2992A>G (p.Asn998Asp) | |
16 | g.9764708T>G | CA394709253 | GRIN2A | c.2836A>C (p.Asn946His) c.2365A>C (p.Asn789His) n.2429A>C c.*206A>C (n.*206A>C) c.2425A>C (p.Asn809His) n.2475A>C c.2677A>C (p.Asn893His) c.2578A>C (p.Asn860His) c.2992A>C (p.Asn998His) | |
16 | g.9764709G>A | CA493693276 | GRIN2A | c.2835C>T (p.Asp945=) c.2364C>T (p.Asp788=) n.2428C>T c.*205C>T (n.*205C>T) c.2424C>T (p.Asp808=) n.2474C>T c.2676C>T (p.Asp892=) c.2577C>T (p.Asp859=) c.2991C>T (p.Asp997=) | |
16 | g.9764709G>C | CA7896413 | GRIN2A | c.2835C>G (p.Asp945Glu) c.2364C>G (p.Asp788Glu) n.2428C>G c.*205C>G (n.*205C>G) c.2424C>G (p.Asp808Glu) n.2474C>G c.2676C>G (p.Asp892Glu) c.2577C>G (p.Asp859Glu) c.2991C>G (p.Asp997Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764709G= | CA2206693367 | GRIN2A | c.2835C= (p.Asp945=) c.2364C= (p.Asp788=) n.2428C= c.*205C= (n.*205C=) c.2424C= (p.Asp808=) n.2474C= c.2676C= (p.Asp892=) c.2577C= (p.Asp859=) c.2991C= (p.Asp997=) | |
16 | g.9764709G>T | CA394709254 | GRIN2A | c.2835C>A (p.Asp945Glu) c.2364C>A (p.Asp788Glu) n.2428C>A c.*205C>A (n.*205C>A) c.2424C>A (p.Asp808Glu) n.2474C>A c.2676C>A (p.Asp892Glu) c.2577C>A (p.Asp859Glu) c.2991C>A (p.Asp997Glu) | dbSNP gnomAD v4 |
16 | g.9764710T>A | CA394709255 | GRIN2A | c.2834A>T (p.Asp945Val) c.2363A>T (p.Asp788Val) n.2427A>T c.*204A>T (n.*204A>T) c.2423A>T (p.Asp808Val) n.2473A>T c.2675A>T (p.Asp892Val) c.2576A>T (p.Asp859Val) c.2990A>T (p.Asp997Val) | dbSNP |
16 | g.9764710T>C | CA394709256 | GRIN2A | c.2834A>G (p.Asp945Gly) c.2363A>G (p.Asp788Gly) n.2427A>G c.*204A>G (n.*204A>G) c.2423A>G (p.Asp808Gly) n.2473A>G c.2675A>G (p.Asp892Gly) c.2576A>G (p.Asp859Gly) c.2990A>G (p.Asp997Gly) | dbSNP |
16 | g.9764710T>G | CA394709257 | GRIN2A | c.2834A>C (p.Asp945Ala) c.2363A>C (p.Asp788Ala) n.2427A>C c.*204A>C (n.*204A>C) c.2423A>C (p.Asp808Ala) n.2473A>C c.2675A>C (p.Asp892Ala) c.2576A>C (p.Asp859Ala) c.2990A>C (p.Asp997Ala) | dbSNP |
16 | g.9764711C>A | CA394709258 | GRIN2A | c.2833G>T (p.Asp945Tyr) c.2362G>T (p.Asp788Tyr) n.2426G>T c.*203G>T (n.*203G>T) c.2422G>T (p.Asp808Tyr) n.2472G>T c.2674G>T (p.Asp892Tyr) c.2575G>T (p.Asp859Tyr) c.2989G>T (p.Asp997Tyr) | |
16 | g.9764711C= | CA2206693368 | GRIN2A | c.2833G= (p.Asp945=) c.2362G= (p.Asp788=) n.2426G= c.*203G= (n.*203G=) c.2422G= (p.Asp808=) n.2472G= c.2674G= (p.Asp892=) c.2575G= (p.Asp859=) c.2989G= (p.Asp997=) | |
16 | g.9764711C>G | CA394709259 | GRIN2A | c.2833G>C (p.Asp945His) c.2362G>C (p.Asp788His) n.2426G>C c.*203G>C (n.*203G>C) c.2422G>C (p.Asp808His) n.2472G>C c.2674G>C (p.Asp892His) c.2575G>C (p.Asp859His) c.2989G>C (p.Asp997His) | |
16 | g.9764711C>T | CA394709260 | GRIN2A | c.2833G>A (p.Asp945Asn) c.2362G>A (p.Asp788Asn) n.2426G>A c.*203G>A (n.*203G>A) c.2422G>A (p.Asp808Asn) n.2472G>A c.2674G>A (p.Asp892Asn) c.2575G>A (p.Asp859Asn) c.2989G>A (p.Asp997Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764714_9764715insACTGA | CA2499223891 | GRIN2A | c.2833_2834insTTCAG (p.Asp945ValfsTer18) c.2362_2363insTTCAG (p.Asp788ValfsTer18) n.2426_2427insTTCAG c.*203_*204insTTCAG (n.*203_*204insTTCAG) c.2422_2423insTTCAG (p.Asp808ValfsTer18) n.2472_2473insTTCAG c.2674_2675insTTCAG (p.Asp892ValfsTer18) c.2575_2576insTTCAG (p.Asp859ValfsTer18) c.2989_2990insTTCAG (p.Asp997ValfsTer18) | ClinVar dbSNP |
16 | g.9764712T>A | CA493693284 | GRIN2A | c.2832A>T (p.Ser944=) c.2361A>T (p.Ser787=) n.2425A>T c.*202A>T (n.*202A>T) c.2421A>T (p.Ser807=) n.2471A>T c.2673A>T (p.Ser891=) c.2574A>T (p.Ser858=) c.2988A>T (p.Ser996=) | dbSNP |
16 | g.9764712T>C | CA493693285 | GRIN2A | c.2832A>G (p.Ser944=) c.2361A>G (p.Ser787=) n.2425A>G c.*202A>G (n.*202A>G) c.2421A>G (p.Ser807=) n.2471A>G c.2673A>G (p.Ser891=) c.2574A>G (p.Ser858=) c.2988A>G (p.Ser996=) | dbSNP |
16 | g.9764712T>G | CA493693288 | GRIN2A | c.2832A>C (p.Ser944=) c.2361A>C (p.Ser787=) n.2425A>C c.*202A>C (n.*202A>C) c.2421A>C (p.Ser807=) n.2471A>C c.2673A>C (p.Ser891=) c.2574A>C (p.Ser858=) c.2988A>C (p.Ser996=) | |
16 | g.9764712T= | CA2206693369 | GRIN2A | c.2832A= (p.Ser944=) c.2361A= (p.Ser787=) n.2425A= c.*202A= (n.*202A=) c.2421A= (p.Ser807=) n.2471A= c.2673A= (p.Ser891=) c.2574A= (p.Ser858=) c.2988A= (p.Ser996=) | |
16 | g.9764713G>A | CA16620320 | GRIN2A | c.2831C>T (p.Ser944Leu) c.2360C>T (p.Ser787Leu) n.2424C>T c.*201C>T (n.*201C>T) c.2420C>T (p.Ser807Leu) n.2470C>T c.2672C>T (p.Ser891Leu) c.2573C>T (p.Ser858Leu) c.2987C>T (p.Ser996Leu) | ClinVar dbSNP |
16 | g.9764713G>C | CA394709261 | GRIN2A | c.2831C>G (p.Ser944Ter) c.2360C>G (p.Ser787Ter) n.2424C>G c.*201C>G (n.*201C>G) c.2420C>G (p.Ser807Ter) n.2470C>G c.2672C>G (p.Ser891Ter) c.2573C>G (p.Ser858Ter) c.2987C>G (p.Ser996Ter) | dbSNP |
16 | g.9764713G= | CA2206693370 | GRIN2A | c.2831C= (p.Ser944=) c.2360C= (p.Ser787=) n.2424C= c.*201C= (n.*201C=) c.2420C= (p.Ser807=) n.2470C= c.2672C= (p.Ser891=) c.2573C= (p.Ser858=) c.2987C= (p.Ser996=) | |
16 | g.9764713G>T | CA394709262 | GRIN2A | c.2831C>A (p.Ser944Ter) c.2360C>A (p.Ser787Ter) n.2424C>A c.*201C>A (n.*201C>A) c.2420C>A (p.Ser807Ter) n.2470C>A c.2672C>A (p.Ser891Ter) c.2573C>A (p.Ser858Ter) c.2987C>A (p.Ser996Ter) | |
16 | g.9764714A= | CA2206693371 | GRIN2A | c.2830T= (p.Ser944=) c.2359T= (p.Ser787=) n.2423T= c.*200T= (n.*200T=) c.2419T= (p.Ser807=) n.2469T= c.2671T= (p.Ser891=) c.2572T= (p.Ser858=) c.2986T= (p.Ser996=) | |
16 | g.9764714A>C | CA394709263 | GRIN2A | c.2830T>G (p.Ser944Ala) c.2359T>G (p.Ser787Ala) n.2423T>G c.*200T>G (n.*200T>G) c.2419T>G (p.Ser807Ala) n.2469T>G c.2671T>G (p.Ser891Ala) c.2572T>G (p.Ser858Ala) c.2986T>G (p.Ser996Ala) | |
16 | g.9764714A>G | CA394709264 | GRIN2A | c.2830T>C (p.Ser944Pro) c.2359T>C (p.Ser787Pro) n.2423T>C c.*200T>C (n.*200T>C) c.2419T>C (p.Ser807Pro) n.2469T>C c.2671T>C (p.Ser891Pro) c.2572T>C (p.Ser858Pro) c.2986T>C (p.Ser996Pro) | ClinVar dbSNP |
16 | g.9764714A>T | CA394709265 | GRIN2A | c.2830T>A (p.Ser944Thr) c.2359T>A (p.Ser787Thr) n.2423T>A c.*200T>A (n.*200T>A) c.2419T>A (p.Ser807Thr) n.2469T>A c.2671T>A (p.Ser891Thr) c.2572T>A (p.Ser858Thr) c.2986T>A (p.Ser996Thr) | dbSNP |
16 | g.9764715G>A | CA493693294 | GRIN2A | c.2829C>T (p.Tyr943=) c.2358C>T (p.Tyr786=) n.2422C>T c.*199C>T (n.*199C>T) c.2418C>T (p.Tyr806=) n.2468C>T c.2670C>T (p.Tyr890=) c.2571C>T (p.Tyr857=) c.2985C>T (p.Tyr995=) | dbSNP |
16 | g.9764715G>C | CA145314 | GRIN2A | c.2829C>G (p.Tyr943Ter) c.2358C>G (p.Tyr786Ter) n.2422C>G c.*199C>G (n.*199C>G) c.2418C>G (p.Tyr806Ter) n.2468C>G c.2670C>G (p.Tyr890Ter) c.2571C>G (p.Tyr857Ter) c.2985C>G (p.Tyr995Ter) | ClinVar dbSNP |
16 | g.9764715G= | CA2206693372 | GRIN2A | c.2829C= (p.Tyr943=) c.2358C= (p.Tyr786=) n.2422C= c.*199C= (n.*199C=) c.2418C= (p.Tyr806=) n.2468C= c.2670C= (p.Tyr890=) c.2571C= (p.Tyr857=) c.2985C= (p.Tyr995=) | |
16 | g.9764715G>T | CA394709266 | GRIN2A | c.2829C>A (p.Tyr943Ter) c.2358C>A (p.Tyr786Ter) n.2422C>A c.*199C>A (n.*199C>A) c.2418C>A (p.Tyr806Ter) n.2468C>A c.2670C>A (p.Tyr890Ter) c.2571C>A (p.Tyr857Ter) c.2985C>A (p.Tyr995Ter) | dbSNP |
16 | g.9764716T>A | CA394709267 | GRIN2A | c.2828A>T (p.Tyr943Phe) c.2357A>T (p.Tyr786Phe) n.2421A>T c.*198A>T (n.*198A>T) c.2417A>T (p.Tyr806Phe) n.2467A>T c.2669A>T (p.Tyr890Phe) c.2570A>T (p.Tyr857Phe) c.2984A>T (p.Tyr995Phe) | |
16 | g.9764716T>C | CA7896414 | GRIN2A | c.2828A>G (p.Tyr943Cys) c.2357A>G (p.Tyr786Cys) n.2421A>G c.*198A>G (n.*198A>G) c.2417A>G (p.Tyr806Cys) n.2467A>G c.2669A>G (p.Tyr890Cys) c.2570A>G (p.Tyr857Cys) c.2984A>G (p.Tyr995Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.9764716T>G | CA394709268 | GRIN2A | c.2828A>C (p.Tyr943Ser) c.2357A>C (p.Tyr786Ser) n.2421A>C c.*198A>C (n.*198A>C) c.2417A>C (p.Tyr806Ser) n.2467A>C c.2669A>C (p.Tyr890Ser) c.2570A>C (p.Tyr857Ser) c.2984A>C (p.Tyr995Ser) | dbSNP |
16 | g.9764716T= | CA2206693373 | GRIN2A | c.2828A= (p.Tyr943=) c.2357A= (p.Tyr786=) n.2421A= c.*198A= (n.*198A=) c.2417A= (p.Tyr806=) n.2467A= c.2669A= (p.Tyr890=) c.2570A= (p.Tyr857=) c.2984A= (p.Tyr995=) | |
16 | g.9764717A>C | CA394709269 | GRIN2A | c.2827T>G (p.Tyr943Asp) c.2356T>G (p.Tyr786Asp) n.2420T>G c.*197T>G (n.*197T>G) c.2416T>G (p.Tyr806Asp) n.2466T>G c.2668T>G (p.Tyr890Asp) c.2569T>G (p.Tyr857Asp) c.2983T>G (p.Tyr995Asp) | |
16 | g.9764717A>G | CA394709270 | GRIN2A | c.2827T>C (p.Tyr943His) c.2356T>C (p.Tyr786His) n.2420T>C c.*197T>C (n.*197T>C) c.2416T>C (p.Tyr806His) n.2466T>C c.2668T>C (p.Tyr890His) c.2569T>C (p.Tyr857His) c.2983T>C (p.Tyr995His) | |
16 | g.9764717A>T | CA394709271 | GRIN2A | c.2827T>A (p.Tyr943Asn) c.2356T>A (p.Tyr786Asn) n.2420T>A c.*197T>A (n.*197T>A) c.2416T>A (p.Tyr806Asn) n.2466T>A c.2668T>A (p.Tyr890Asn) c.2569T>A (p.Tyr857Asn) c.2983T>A (p.Tyr995Asn) | dbSNP |
16 | g.9764718C>A | CA394709274 | GRIN2A | c.2826G>T (p.Met942Ile) c.2355G>T (p.Met785Ile) n.2419G>T c.*196G>T (n.*196G>T) c.2415G>T (p.Met805Ile) n.2465G>T c.2667G>T (p.Met889Ile) c.2568G>T (p.Met856Ile) c.2982G>T (p.Met994Ile) | dbSNP |
16 | g.9764718C>G | CA394709273 | GRIN2A | c.2826G>C (p.Met942Ile) c.2355G>C (p.Met785Ile) n.2419G>C c.*196G>C (n.*196G>C) c.2415G>C (p.Met805Ile) n.2465G>C c.2667G>C (p.Met889Ile) c.2568G>C (p.Met856Ile) c.2982G>C (p.Met994Ile) | dbSNP |
16 | g.9764718C>T | CA394709272 | GRIN2A | c.2826G>A (p.Met942Ile) c.2355G>A (p.Met785Ile) n.2419G>A c.*196G>A (n.*196G>A) c.2415G>A (p.Met805Ile) n.2465G>A c.2667G>A (p.Met889Ile) c.2568G>A (p.Met856Ile) c.2982G>A (p.Met994Ile) | dbSNP |
16 | g.9764719A= | CA2206693374 | GRIN2A | c.2825T= (p.Met942=) c.2354T= (p.Met785=) n.2418T= c.*195T= (n.*195T=) c.2414T= (p.Met805=) n.2464T= c.2666T= (p.Met889=) c.2567T= (p.Met856=) c.2981T= (p.Met994=) | |
16 | g.9764719A>C | CA394709277 | GRIN2A | c.2825T>G (p.Met942Arg) c.2354T>G (p.Met785Arg) n.2418T>G c.*195T>G (n.*195T>G) c.2414T>G (p.Met805Arg) n.2464T>G c.2666T>G (p.Met889Arg) c.2567T>G (p.Met856Arg) c.2981T>G (p.Met994Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764719A>G | CA394709275 | GRIN2A | c.2825T>C (p.Met942Thr) c.2354T>C (p.Met785Thr) n.2418T>C c.*195T>C (n.*195T>C) c.2414T>C (p.Met805Thr) n.2464T>C c.2666T>C (p.Met889Thr) c.2567T>C (p.Met856Thr) c.2981T>C (p.Met994Thr) | |
16 | g.9764719A>T | CA394709276 | GRIN2A | c.2825T>A (p.Met942Lys) c.2354T>A (p.Met785Lys) n.2418T>A c.*195T>A (n.*195T>A) c.2414T>A (p.Met805Lys) n.2464T>A c.2666T>A (p.Met889Lys) c.2567T>A (p.Met856Lys) c.2981T>A (p.Met994Lys) | dbSNP |
16 | g.9764720T>A | CA394709278 | GRIN2A | c.2824A>T (p.Met942Leu) c.2353A>T (p.Met785Leu) n.2417A>T c.*194A>T (n.*194A>T) c.2413A>T (p.Met805Leu) n.2463A>T c.2665A>T (p.Met889Leu) c.2566A>T (p.Met856Leu) c.2980A>T (p.Met994Leu) | dbSNP |
16 | g.9764720T>C | CA394709279 | GRIN2A | c.2824A>G (p.Met942Val) c.2353A>G (p.Met785Val) n.2417A>G c.*194A>G (n.*194A>G) c.2413A>G (p.Met805Val) n.2463A>G c.2665A>G (p.Met889Val) c.2566A>G (p.Met856Val) c.2980A>G (p.Met994Val) | dbSNP |
16 | g.9764720T>G | CA394709280 | GRIN2A | c.2824A>C (p.Met942Leu) c.2353A>C (p.Met785Leu) n.2417A>C c.*194A>C (n.*194A>C) c.2413A>C (p.Met805Leu) n.2463A>C c.2665A>C (p.Met889Leu) c.2566A>C (p.Met856Leu) c.2980A>C (p.Met994Leu) | |
16 | g.9764721C>A | CA7896415 | GRIN2A | c.2823G>T (p.Leu941Phe) c.2352G>T (p.Leu784Phe) n.2416G>T c.*193G>T (n.*193G>T) c.2412G>T (p.Leu804Phe) n.2462G>T c.2664G>T (p.Leu888Phe) c.2565G>T (p.Leu855Phe) c.2979G>T (p.Leu993Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.9764721C= | CA2206693375 | GRIN2A | c.2823G= (p.Leu941=) c.2352G= (p.Leu784=) n.2416G= c.*193G= (n.*193G=) c.2412G= (p.Leu804=) n.2462G= c.2664G= (p.Leu888=) c.2565G= (p.Leu855=) c.2979G= (p.Leu993=) | |
16 | g.9764721C>G | CA394709281 | GRIN2A | c.2823G>C (p.Leu941Phe) c.2352G>C (p.Leu784Phe) n.2416G>C c.*193G>C (n.*193G>C) c.2412G>C (p.Leu804Phe) n.2462G>C c.2664G>C (p.Leu888Phe) c.2565G>C (p.Leu855Phe) c.2979G>C (p.Leu993Phe) | dbSNP |
16 | g.9764721C>T | CA493693306 | GRIN2A | c.2823G>A (p.Leu941=) c.2352G>A (p.Leu784=) n.2416G>A c.*193G>A (n.*193G>A) c.2412G>A (p.Leu804=) n.2462G>A c.2664G>A (p.Leu888=) c.2565G>A (p.Leu855=) c.2979G>A (p.Leu993=) | dbSNP COSMIC |
16 | g.9764722A= | CA2206693376 | GRIN2A | c.2822T= (p.Leu941=) c.2351T= (p.Leu784=) n.2415T= c.*192T= (n.*192T=) c.2411T= (p.Leu804=) n.2461T= c.2663T= (p.Leu888=) c.2564T= (p.Leu855=) c.2978T= (p.Leu993=) | |
16 | g.9764722A>C | CA394709282 | GRIN2A | c.2822T>G (p.Leu941Trp) c.2351T>G (p.Leu784Trp) n.2415T>G c.*192T>G (n.*192T>G) c.2411T>G (p.Leu804Trp) n.2461T>G c.2663T>G (p.Leu888Trp) c.2564T>G (p.Leu855Trp) c.2978T>G (p.Leu993Trp) | |
16 | g.9764722A>G | CA394709284 | GRIN2A | c.2822T>C (p.Leu941Ser) c.2351T>C (p.Leu784Ser) n.2415T>C c.*192T>C (n.*192T>C) c.2411T>C (p.Leu804Ser) n.2461T>C c.2663T>C (p.Leu888Ser) c.2564T>C (p.Leu855Ser) c.2978T>C (p.Leu993Ser) | |
16 | g.9764722A>T | CA394709283 | GRIN2A | c.2822T>A (p.Leu941Ter) c.2351T>A (p.Leu784Ter) n.2415T>A c.*192T>A (n.*192T>A) c.2411T>A (p.Leu804Ter) n.2461T>A c.2663T>A (p.Leu888Ter) c.2564T>A (p.Leu855Ter) c.2978T>A (p.Leu993Ter) | dbSNP |
16 | g.9764723A= | CA2206693377 | GRIN2A | c.2821T= (p.Leu941=) c.2350T= (p.Leu784=) n.2414T= c.*191T= (n.*191T=) c.2410T= (p.Leu804=) n.2460T= c.2662T= (p.Leu888=) c.2563T= (p.Leu855=) c.2977T= (p.Leu993=) | |
16 | g.9764723A>C | CA394709285 | GRIN2A | c.2821T>G (p.Leu941Val) c.2350T>G (p.Leu784Val) n.2414T>G c.*191T>G (n.*191T>G) c.2410T>G (p.Leu804Val) n.2460T>G c.2662T>G (p.Leu888Val) c.2563T>G (p.Leu855Val) c.2977T>G (p.Leu993Val) | dbSNP gnomAD v4 |
16 | g.9764723A>G | CA493693309 | GRIN2A | c.2821T>C (p.Leu941=) c.2350T>C (p.Leu784=) n.2414T>C c.*191T>C (n.*191T>C) c.2410T>C (p.Leu804=) n.2460T>C c.2662T>C (p.Leu888=) c.2563T>C (p.Leu855=) c.2977T>C (p.Leu993=) | ClinVar dbSNP |
16 | g.9764723A>T | CA394709286 | GRIN2A | c.2821T>A (p.Leu941Met) c.2350T>A (p.Leu784Met) n.2414T>A c.*191T>A (n.*191T>A) c.2410T>A (p.Leu804Met) n.2460T>A c.2662T>A (p.Leu888Met) c.2563T>A (p.Leu855Met) c.2977T>A (p.Leu993Met) | dbSNP |
16 | g.9764724A>C | CA394709287 | GRIN2A | c.2820T>G (p.Asn940Lys) c.2349T>G (p.Asn783Lys) n.2413T>G c.*190T>G (n.*190T>G) c.2409T>G (p.Asn803Lys) n.2459T>G c.2661T>G (p.Asn887Lys) c.2562T>G (p.Asn854Lys) c.2976T>G (p.Asn992Lys) | |
16 | g.9764724A>G | CA493693311 | GRIN2A | c.2820T>C (p.Asn940=) c.2349T>C (p.Asn783=) n.2413T>C c.*190T>C (n.*190T>C) c.2409T>C (p.Asn803=) n.2459T>C c.2661T>C (p.Asn887=) c.2562T>C (p.Asn854=) c.2976T>C (p.Asn992=) | |
16 | g.9764724A>T | CA394709288 | GRIN2A | c.2820T>A (p.Asn940Lys) c.2349T>A (p.Asn783Lys) n.2413T>A c.*190T>A (n.*190T>A) c.2409T>A (p.Asn803Lys) n.2459T>A c.2661T>A (p.Asn887Lys) c.2562T>A (p.Asn854Lys) c.2976T>A (p.Asn992Lys) | dbSNP |
16 | g.9764725T>A | CA394709289 | GRIN2A | c.2819A>T (p.Asn940Ile) c.2348A>T (p.Asn783Ile) n.2412A>T c.*189A>T (n.*189A>T) c.2408A>T (p.Asn803Ile) n.2458A>T c.2660A>T (p.Asn887Ile) c.2561A>T (p.Asn854Ile) c.2975A>T (p.Asn992Ile) | |
16 | g.9764725T>C | CA394709290 | GRIN2A | c.2819A>G (p.Asn940Ser) c.2348A>G (p.Asn783Ser) n.2412A>G c.*189A>G (n.*189A>G) c.2408A>G (p.Asn803Ser) n.2458A>G c.2660A>G (p.Asn887Ser) c.2561A>G (p.Asn854Ser) c.2975A>G (p.Asn992Ser) | dbSNP |
16 | g.9764725T>G | CA7896416 | GRIN2A | c.2819A>C (p.Asn940Thr) c.2348A>C (p.Asn783Thr) n.2412A>C c.*189A>C (n.*189A>C) c.2408A>C (p.Asn803Thr) n.2458A>C c.2660A>C (p.Asn887Thr) c.2561A>C (p.Asn854Thr) c.2975A>C (p.Asn992Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764725T= | CA2206693378 | GRIN2A | c.2819A= (p.Asn940=) c.2348A= (p.Asn783=) n.2412A= c.*189A= (n.*189A=) c.2408A= (p.Asn803=) n.2458A= c.2660A= (p.Asn887=) c.2561A= (p.Asn854=) c.2975A= (p.Asn992=) | |
16 | g.9764726T>A | CA394709291 | GRIN2A | c.2818A>T (p.Asn940Tyr) c.2347A>T (p.Asn783Tyr) n.2411A>T c.*188A>T (n.*188A>T) c.2407A>T (p.Asn803Tyr) n.2457A>T c.2659A>T (p.Asn887Tyr) c.2560A>T (p.Asn854Tyr) c.2974A>T (p.Asn992Tyr) | |
16 | g.9764726T>C | CA394709292 | GRIN2A | c.2818A>G (p.Asn940Asp) c.2347A>G (p.Asn783Asp) n.2411A>G c.*188A>G (n.*188A>G) c.2407A>G (p.Asn803Asp) n.2457A>G c.2659A>G (p.Asn887Asp) c.2560A>G (p.Asn854Asp) c.2974A>G (p.Asn992Asp) | |
16 | g.9764726T>G | CA394709293 | GRIN2A | c.2818A>C (p.Asn940His) c.2347A>C (p.Asn783His) n.2411A>C c.*188A>C (n.*188A>C) c.2407A>C (p.Asn803His) n.2457A>C c.2659A>C (p.Asn887His) c.2560A>C (p.Asn854His) c.2974A>C (p.Asn992His) | |
16 | g.9764727C>A | CA493693317 | GRIN2A | c.2817G>T (p.Gly939=) c.2346G>T (p.Gly782=) n.2410G>T c.*187G>T (n.*187G>T) c.2406G>T (p.Gly802=) n.2456G>T c.2658G>T (p.Gly886=) c.2559G>T (p.Gly853=) c.2973G>T (p.Gly991=) | dbSNP |
16 | g.9764727C>G | CA493693316 | GRIN2A | c.2817G>C (p.Gly939=) c.2346G>C (p.Gly782=) n.2410G>C c.*187G>C (n.*187G>C) c.2406G>C (p.Gly802=) n.2456G>C c.2658G>C (p.Gly886=) c.2559G>C (p.Gly853=) c.2973G>C (p.Gly991=) | dbSNP |
16 | g.9764727C>T | CA493693314 | GRIN2A | c.2817G>A (p.Gly939=) c.2346G>A (p.Gly782=) n.2410G>A c.*187G>A (n.*187G>A) c.2406G>A (p.Gly802=) n.2456G>A c.2658G>A (p.Gly886=) c.2559G>A (p.Gly853=) c.2973G>A (p.Gly991=) | dbSNP |
16 | g.9764728C>A | CA394709294 | GRIN2A | c.2816G>T (p.Gly939Val) c.2345G>T (p.Gly782Val) n.2409G>T c.*186G>T (n.*186G>T) c.2405G>T (p.Gly802Val) n.2455G>T c.2657G>T (p.Gly886Val) c.2558G>T (p.Gly853Val) c.2972G>T (p.Gly991Val) | dbSNP COSMIC |
16 | g.9764728C>G | CA394709295 | GRIN2A | c.2816G>C (p.Gly939Ala) c.2345G>C (p.Gly782Ala) n.2409G>C c.*186G>C (n.*186G>C) c.2405G>C (p.Gly802Ala) n.2455G>C c.2657G>C (p.Gly886Ala) c.2558G>C (p.Gly853Ala) c.2972G>C (p.Gly991Ala) | dbSNP |
16 | g.9764728C>T | CA394709296 | GRIN2A | c.2816G>A (p.Gly939Glu) c.2345G>A (p.Gly782Glu) n.2409G>A c.*186G>A (n.*186G>A) c.2405G>A (p.Gly802Glu) n.2455G>A c.2657G>A (p.Gly886Glu) c.2558G>A (p.Gly853Glu) c.2972G>A (p.Gly991Glu) | ClinVar dbSNP |
16 | g.9764729C>A | CA394709297 | GRIN2A | c.2815G>T (p.Gly939Trp) c.2344G>T (p.Gly782Trp) n.2408G>T c.*185G>T (n.*185G>T) c.2404G>T (p.Gly802Trp) n.2454G>T c.2656G>T (p.Gly886Trp) c.2557G>T (p.Gly853Trp) c.2971G>T (p.Gly991Trp) | gnomAD v4 |
16 | g.9764729C= | CA2206693379 | GRIN2A | c.2815G= (p.Gly939=) c.2344G= (p.Gly782=) n.2408G= c.*185G= (n.*185G=) c.2404G= (p.Gly802=) n.2454G= c.2656G= (p.Gly886=) c.2557G= (p.Gly853=) c.2971G= (p.Gly991=) | |
16 | g.9764729C>G | CA394709298 | GRIN2A | c.2815G>C (p.Gly939Arg) c.2344G>C (p.Gly782Arg) n.2408G>C c.*185G>C (n.*185G>C) c.2404G>C (p.Gly802Arg) n.2454G>C c.2656G>C (p.Gly886Arg) c.2557G>C (p.Gly853Arg) c.2971G>C (p.Gly991Arg) | |
16 | g.9764729C>T | CA394709299 | GRIN2A | c.2815G>A (p.Gly939Arg) c.2344G>A (p.Gly782Arg) n.2408G>A c.*185G>A (n.*185G>A) c.2404G>A (p.Gly802Arg) n.2454G>A c.2656G>A (p.Gly886Arg) c.2557G>A (p.Gly853Arg) c.2971G>A (p.Gly991Arg) | dbSNP |
16 | g.9764730C>A | CA394709300 | GRIN2A | c.2814G>T (p.Lys938Asn) c.2343G>T (p.Lys781Asn) n.2407G>T c.*184G>T (n.*184G>T) c.2403G>T (p.Lys801Asn) n.2453G>T c.2655G>T (p.Lys885Asn) c.2556G>T (p.Lys852Asn) c.2970G>T (p.Lys990Asn) | |
16 | g.9764730C>G | CA394709301 | GRIN2A | c.2814G>C (p.Lys938Asn) c.2343G>C (p.Lys781Asn) n.2407G>C c.*184G>C (n.*184G>C) c.2403G>C (p.Lys801Asn) n.2453G>C c.2655G>C (p.Lys885Asn) c.2556G>C (p.Lys852Asn) c.2970G>C (p.Lys990Asn) | gnomAD v4 |
16 | g.9764730C>T | CA493693318 | GRIN2A | c.2814G>A (p.Lys938=) c.2343G>A (p.Lys781=) n.2407G>A c.*184G>A (n.*184G>A) c.2403G>A (p.Lys801=) n.2453G>A c.2655G>A (p.Lys885=) c.2556G>A (p.Lys852=) c.2970G>A (p.Lys990=) | COSMIC |
16 | g.9764731T>A | CA394709303 | GRIN2A | c.2813A>T (p.Lys938Met) c.2342A>T (p.Lys781Met) n.2406A>T c.*183A>T (n.*183A>T) c.2402A>T (p.Lys801Met) n.2452A>T c.2654A>T (p.Lys885Met) c.2555A>T (p.Lys852Met) c.2969A>T (p.Lys990Met) | dbSNP |
16 | g.9764731T>C | CA394709304 | GRIN2A | c.2813A>G (p.Lys938Arg) c.2342A>G (p.Lys781Arg) n.2406A>G c.*183A>G (n.*183A>G) c.2402A>G (p.Lys801Arg) n.2452A>G c.2654A>G (p.Lys885Arg) c.2555A>G (p.Lys852Arg) c.2969A>G (p.Lys990Arg) | dbSNP |
16 | g.9764731T>G | CA394709302 | GRIN2A | c.2813A>C (p.Lys938Thr) c.2342A>C (p.Lys781Thr) n.2406A>C c.*183A>C (n.*183A>C) c.2402A>C (p.Lys801Thr) n.2452A>C c.2654A>C (p.Lys885Thr) c.2555A>C (p.Lys852Thr) c.2969A>C (p.Lys990Thr) | dbSNP |
16 | g.9764731T= | CA2206693380 | GRIN2A | c.2813A= (p.Lys938=) c.2342A= (p.Lys781=) n.2406A= c.*183A= (n.*183A=) c.2402A= (p.Lys801=) n.2452A= c.2654A= (p.Lys885=) c.2555A= (p.Lys852=) c.2969A= (p.Lys990=) | |
16 | g.9764732T>A | CA394709305 | GRIN2A | c.2812A>T (p.Lys938Ter) c.2341A>T (p.Lys781Ter) n.2405A>T c.*182A>T (n.*182A>T) c.2401A>T (p.Lys801Ter) n.2451A>T c.2653A>T (p.Lys885Ter) c.2554A>T (p.Lys852Ter) c.2968A>T (p.Lys990Ter) | dbSNP |
16 | g.9764732T>C | CA394709306 | GRIN2A | c.2812A>G (p.Lys938Glu) c.2341A>G (p.Lys781Glu) n.2405A>G c.*182A>G (n.*182A>G) c.2401A>G (p.Lys801Glu) n.2451A>G c.2653A>G (p.Lys885Glu) c.2554A>G (p.Lys852Glu) c.2968A>G (p.Lys990Glu) | |
16 | g.9764732T>G | CA394709307 | GRIN2A | c.2812A>C (p.Lys938Gln) c.2341A>C (p.Lys781Gln) n.2405A>C c.*182A>C (n.*182A>C) c.2401A>C (p.Lys801Gln) n.2451A>C c.2653A>C (p.Lys885Gln) c.2554A>C (p.Lys852Gln) c.2968A>C (p.Lys990Gln) | |
16 | g.9764732T= | CA2206693381 | GRIN2A | c.2812A= (p.Lys938=) c.2341A= (p.Lys781=) n.2405A= c.*182A= (n.*182A=) c.2401A= (p.Lys801=) n.2451A= c.2653A= (p.Lys885=) c.2554A= (p.Lys852=) c.2968A= (p.Lys990=) | |
16 | g.9764733A= | CA2206693382 | GRIN2A | c.2811T= (p.Asp937=) c.2340T= (p.Asp780=) n.2404T= c.*181T= (n.*181T=) c.2400T= (p.Asp800=) n.2450T= c.2652T= (p.Asp884=) c.2553T= (p.Asp851=) c.2967T= (p.Asp989=) | |
16 | g.9764733A>C | CA394709308 | GRIN2A | c.2811T>G (p.Asp937Glu) c.2340T>G (p.Asp780Glu) n.2404T>G c.*181T>G (n.*181T>G) c.2400T>G (p.Asp800Glu) n.2450T>G c.2652T>G (p.Asp884Glu) c.2553T>G (p.Asp851Glu) c.2967T>G (p.Asp989Glu) | |
16 | g.9764733A>G | CA493693446 | GRIN2A | c.2811T>C (p.Asp937=) c.2340T>C (p.Asp780=) n.2404T>C c.*181T>C (n.*181T>C) c.2400T>C (p.Asp800=) n.2450T>C c.2652T>C (p.Asp884=) c.2553T>C (p.Asp851=) c.2967T>C (p.Asp989=) | dbSNP |
16 | g.9764733A>T | CA7896417 | GRIN2A | c.2811T>A (p.Asp937Glu) c.2340T>A (p.Asp780Glu) n.2404T>A c.*181T>A (n.*181T>A) c.2400T>A (p.Asp800Glu) n.2450T>A c.2652T>A (p.Asp884Glu) c.2553T>A (p.Asp851Glu) c.2967T>A (p.Asp989Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764734T>A | CA394709309 | GRIN2A | c.2810A>T (p.Asp937Val) c.2339A>T (p.Asp780Val) n.2403A>T c.*180A>T (n.*180A>T) c.2399A>T (p.Asp800Val) n.2449A>T c.2651A>T (p.Asp884Val) c.2552A>T (p.Asp851Val) c.2966A>T (p.Asp989Val) | gnomAD v4 |
16 | g.9764734T>C | CA394709310 | GRIN2A | c.2810A>G (p.Asp937Gly) c.2339A>G (p.Asp780Gly) n.2403A>G c.*180A>G (n.*180A>G) c.2399A>G (p.Asp800Gly) n.2449A>G c.2651A>G (p.Asp884Gly) c.2552A>G (p.Asp851Gly) c.2966A>G (p.Asp989Gly) | dbSNP |
16 | g.9764734T>G | CA394709311 | GRIN2A | c.2810A>C (p.Asp937Ala) c.2339A>C (p.Asp780Ala) n.2403A>C c.*180A>C (n.*180A>C) c.2399A>C (p.Asp800Ala) n.2449A>C c.2651A>C (p.Asp884Ala) c.2552A>C (p.Asp851Ala) c.2966A>C (p.Asp989Ala) | |
16 | g.9764734T= | CA2206693383 | GRIN2A | c.2810A= (p.Asp937=) c.2339A= (p.Asp780=) n.2403A= c.*180A= (n.*180A=) c.2399A= (p.Asp800=) n.2449A= c.2651A= (p.Asp884=) c.2552A= (p.Asp851=) c.2966A= (p.Asp989=) | |
16 | g.9764735C>A | CA394709312 | GRIN2A | c.2809G>T (p.Asp937Tyr) c.2338G>T (p.Asp780Tyr) n.2402G>T c.*179G>T (n.*179G>T) c.2398G>T (p.Asp800Tyr) n.2448G>T c.2650G>T (p.Asp884Tyr) c.2551G>T (p.Asp851Tyr) c.2965G>T (p.Asp989Tyr) | dbSNP |
16 | g.9764735C= | CA2206693384 | GRIN2A | c.2809G= (p.Asp937=) c.2338G= (p.Asp780=) n.2402G= c.*179G= (n.*179G=) c.2398G= (p.Asp800=) n.2448G= c.2650G= (p.Asp884=) c.2551G= (p.Asp851=) c.2965G= (p.Asp989=) | |
16 | g.9764735C>G | CA394709313 | GRIN2A | c.2809G>C (p.Asp937His) c.2338G>C (p.Asp780His) n.2402G>C c.*179G>C (n.*179G>C) c.2398G>C (p.Asp800His) n.2448G>C c.2650G>C (p.Asp884His) c.2551G>C (p.Asp851His) c.2965G>C (p.Asp989His) | dbSNP gnomAD v4 |
16 | g.9764735C>T | CA7896418 | GRIN2A | c.2809G>A (p.Asp937Asn) c.2338G>A (p.Asp780Asn) n.2402G>A c.*179G>A (n.*179G>A) c.2398G>A (p.Asp800Asn) n.2448G>A c.2650G>A (p.Asp884Asn) c.2551G>A (p.Asp851Asn) c.2965G>A (p.Asp989Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764736T>A | CA493693451 | GRIN2A | c.2808A>T (p.Ser936=) c.2337A>T (p.Ser779=) n.2401A>T c.*178A>T (n.*178A>T) c.2397A>T (p.Ser799=) n.2447A>T c.2649A>T (p.Ser883=) c.2550A>T (p.Ser850=) c.2964A>T (p.Ser988=) | dbSNP |
16 | g.9764736T>C | CA7896419 | GRIN2A | c.2808A>G (p.Ser936=) c.2337A>G (p.Ser779=) n.2401A>G c.*178A>G (n.*178A>G) c.2397A>G (p.Ser799=) n.2447A>G c.2649A>G (p.Ser883=) c.2550A>G (p.Ser850=) c.2964A>G (p.Ser988=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764736T>G | CA493693452 | GRIN2A | c.2808A>C (p.Ser936=) c.2337A>C (p.Ser779=) n.2401A>C c.*178A>C (n.*178A>C) c.2397A>C (p.Ser799=) n.2447A>C c.2649A>C (p.Ser883=) c.2550A>C (p.Ser850=) c.2964A>C (p.Ser988=) | |
16 | g.9764736T= | CA2206693385 | GRIN2A | c.2808A= (p.Ser936=) c.2337A= (p.Ser779=) n.2401A= c.*178A= (n.*178A=) c.2397A= (p.Ser799=) n.2447A= c.2649A= (p.Ser883=) c.2550A= (p.Ser850=) c.2964A= (p.Ser988=) | |
16 | g.9764737G>A | CA394709314 | GRIN2A | c.2807C>T (p.Ser936Leu) c.2336C>T (p.Ser779Leu) n.2400C>T c.*177C>T (n.*177C>T) c.2396C>T (p.Ser799Leu) n.2446C>T c.2648C>T (p.Ser883Leu) c.2549C>T (p.Ser850Leu) c.2963C>T (p.Ser988Leu) | dbSNP |
16 | g.9764737G>C | CA394709315 | GRIN2A | c.2807C>G (p.Ser936Ter) c.2336C>G (p.Ser779Ter) n.2400C>G c.*177C>G (n.*177C>G) c.2396C>G (p.Ser799Ter) n.2446C>G c.2648C>G (p.Ser883Ter) c.2549C>G (p.Ser850Ter) c.2963C>G (p.Ser988Ter) | dbSNP |
16 | g.9764737G>T | CA394709316 | GRIN2A | c.2807C>A (p.Ser936Ter) c.2336C>A (p.Ser779Ter) n.2400C>A c.*177C>A (n.*177C>A) c.2396C>A (p.Ser799Ter) n.2446C>A c.2648C>A (p.Ser883Ter) c.2549C>A (p.Ser850Ter) c.2963C>A (p.Ser988Ter) | |
16 | g.9764738A>C | CA394709319 | GRIN2A | c.2806T>G (p.Ser936Ala) c.2335T>G (p.Ser779Ala) n.2399T>G c.*176T>G (n.*176T>G) c.2395T>G (p.Ser799Ala) n.2445T>G c.2647T>G (p.Ser883Ala) c.2548T>G (p.Ser850Ala) c.2962T>G (p.Ser988Ala) | |
16 | g.9764738A>G | CA394709317 | GRIN2A | c.2806T>C (p.Ser936Pro) c.2335T>C (p.Ser779Pro) n.2399T>C c.*176T>C (n.*176T>C) c.2395T>C (p.Ser799Pro) n.2445T>C c.2647T>C (p.Ser883Pro) c.2548T>C (p.Ser850Pro) c.2962T>C (p.Ser988Pro) | |
16 | g.9764738A>T | CA394709318 | GRIN2A | c.2806T>A (p.Ser936Thr) c.2335T>A (p.Ser779Thr) n.2399T>A c.*176T>A (n.*176T>A) c.2395T>A (p.Ser799Thr) n.2445T>A c.2647T>A (p.Ser883Thr) c.2548T>A (p.Ser850Thr) c.2962T>A (p.Ser988Thr) | dbSNP |
16 | g.9764739A= | CA2206693386 | GRIN2A | c.2805T= (p.Val935=) c.2334T= (p.Val778=) n.2398T= c.*175T= (n.*175T=) c.2394T= (p.Val798=) n.2444T= c.2646T= (p.Val882=) c.2547T= (p.Val849=) c.2961T= (p.Val987=) | |
16 | g.9764739A>C | CA7896420 | GRIN2A | c.2805T>G (p.Val935=) c.2334T>G (p.Val778=) n.2398T>G c.*175T>G (n.*175T>G) c.2394T>G (p.Val798=) n.2444T>G c.2646T>G (p.Val882=) c.2547T>G (p.Val849=) c.2961T>G (p.Val987=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764739A>G | CA493693457 | GRIN2A | c.2805T>C (p.Val935=) c.2334T>C (p.Val778=) n.2398T>C c.*175T>C (n.*175T>C) c.2394T>C (p.Val798=) n.2444T>C c.2646T>C (p.Val882=) c.2547T>C (p.Val849=) c.2961T>C (p.Val987=) | |
16 | g.9764739A>T | CA493693458 | GRIN2A | c.2805T>A (p.Val935=) c.2334T>A (p.Val778=) n.2398T>A c.*175T>A (n.*175T>A) c.2394T>A (p.Val798=) n.2444T>A c.2646T>A (p.Val882=) c.2547T>A (p.Val849=) c.2961T>A (p.Val987=) | |
16 | g.9764740A= | CA2206693387 | GRIN2A | c.2804T= (p.Val935=) c.2333T= (p.Val778=) n.2397T= c.*174T= (n.*174T=) c.2393T= (p.Val798=) n.2443T= c.2645T= (p.Val882=) c.2546T= (p.Val849=) c.2960T= (p.Val987=) | |
16 | g.9764740A>C | CA394709320 | GRIN2A | c.2804T>G (p.Val935Gly) c.2333T>G (p.Val778Gly) n.2397T>G c.*174T>G (n.*174T>G) c.2393T>G (p.Val798Gly) n.2443T>G c.2645T>G (p.Val882Gly) c.2546T>G (p.Val849Gly) c.2960T>G (p.Val987Gly) | |
16 | g.9764740A>G | CA277538500 | GRIN2A | c.2804T>C (p.Val935Ala) c.2333T>C (p.Val778Ala) n.2397T>C c.*174T>C (n.*174T>C) c.2393T>C (p.Val798Ala) n.2443T>C c.2645T>C (p.Val882Ala) c.2546T>C (p.Val849Ala) c.2960T>C (p.Val987Ala) | dbSNP gnomAD v4 |
16 | g.9764740A>T | CA394709321 | GRIN2A | c.2804T>A (p.Val935Asp) c.2333T>A (p.Val778Asp) n.2397T>A c.*174T>A (n.*174T>A) c.2393T>A (p.Val798Asp) n.2443T>A c.2645T>A (p.Val882Asp) c.2546T>A (p.Val849Asp) c.2960T>A (p.Val987Asp) | |
16 | g.9764741C>A | CA394709322 | GRIN2A | c.2803G>T (p.Val935Phe) c.2332G>T (p.Val778Phe) n.2396G>T c.*173G>T (n.*173G>T) c.2392G>T (p.Val798Phe) n.2442G>T c.2644G>T (p.Val882Phe) c.2545G>T (p.Val849Phe) c.2959G>T (p.Val987Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764741C= | CA2206693388 | GRIN2A | c.2803G= (p.Val935=) c.2332G= (p.Val778=) n.2396G= c.*173G= (n.*173G=) c.2392G= (p.Val798=) n.2442G= c.2644G= (p.Val882=) c.2545G= (p.Val849=) c.2959G= (p.Val987=) | |
16 | g.9764741C>G | CA394709323 | GRIN2A | c.2803G>C (p.Val935Leu) c.2332G>C (p.Val778Leu) n.2396G>C c.*173G>C (n.*173G>C) c.2392G>C (p.Val798Leu) n.2442G>C c.2644G>C (p.Val882Leu) c.2545G>C (p.Val849Leu) c.2959G>C (p.Val987Leu) | dbSNP |
16 | g.9764741C>T | CA394709324 | GRIN2A | c.2803G>A (p.Val935Ile) c.2332G>A (p.Val778Ile) n.2396G>A c.*173G>A (n.*173G>A) c.2392G>A (p.Val798Ile) n.2442G>A c.2644G>A (p.Val882Ile) c.2545G>A (p.Val849Ile) c.2959G>A (p.Val987Ile) | dbSNP gnomAD v4 |
16 | g.9764742C>A | CA394709325 | GRIN2A | c.2802G>T (p.Met934Ile) c.2331G>T (p.Met777Ile) n.2395G>T c.*172G>T (n.*172G>T) c.2391G>T (p.Met797Ile) n.2441G>T c.2643G>T (p.Met881Ile) c.2544G>T (p.Met848Ile) c.2958G>T (p.Met986Ile) | dbSNP |
16 | g.9764742C>G | CA394709326 | GRIN2A | c.2802G>C (p.Met934Ile) c.2331G>C (p.Met777Ile) n.2395G>C c.*172G>C (n.*172G>C) c.2391G>C (p.Met797Ile) n.2441G>C c.2643G>C (p.Met881Ile) c.2544G>C (p.Met848Ile) c.2958G>C (p.Met986Ile) | dbSNP |
16 | g.9764742C>T | CA394709327 | GRIN2A | c.2802G>A (p.Met934Ile) c.2331G>A (p.Met777Ile) n.2395G>A c.*172G>A (n.*172G>A) c.2391G>A (p.Met797Ile) n.2441G>A c.2643G>A (p.Met881Ile) c.2544G>A (p.Met848Ile) c.2958G>A (p.Met986Ile) | ClinVar dbSNP |
16 | g.9764743A= | CA2206693389 | GRIN2A | c.2801T= (p.Met934=) c.2330T= (p.Met777=) n.2394T= c.*171T= (n.*171T=) c.2390T= (p.Met797=) n.2440T= c.2642T= (p.Met881=) c.2543T= (p.Met848=) c.2957T= (p.Met986=) | |
16 | g.9764743A>C | CA394709328 | GRIN2A | c.2801T>G (p.Met934Arg) c.2330T>G (p.Met777Arg) n.2394T>G c.*171T>G (n.*171T>G) c.2390T>G (p.Met797Arg) n.2440T>G c.2642T>G (p.Met881Arg) c.2543T>G (p.Met848Arg) c.2957T>G (p.Met986Arg) | |
16 | g.9764743A>G | CA314960 | GRIN2A | c.2801T>C (p.Met934Thr) c.2330T>C (p.Met777Thr) n.2394T>C c.*171T>C (n.*171T>C) c.2390T>C (p.Met797Thr) n.2440T>C c.2642T>C (p.Met881Thr) c.2543T>C (p.Met848Thr) c.2957T>C (p.Met986Thr) | ClinVar dbSNP |
16 | g.9764743A>T | CA277538505 | GRIN2A | c.2801T>A (p.Met934Lys) c.2330T>A (p.Met777Lys) n.2394T>A c.*171T>A (n.*171T>A) c.2390T>A (p.Met797Lys) n.2440T>A c.2642T>A (p.Met881Lys) c.2543T>A (p.Met848Lys) c.2957T>A (p.Met986Lys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764744T>A | CA394709329 | GRIN2A | c.2800A>T (p.Met934Leu) c.2329A>T (p.Met777Leu) n.2393A>T c.*170A>T (n.*170A>T) c.2389A>T (p.Met797Leu) n.2439A>T c.2641A>T (p.Met881Leu) c.2542A>T (p.Met848Leu) c.2956A>T (p.Met986Leu) | dbSNP |
16 | g.9764744T>C | CA394709331 | GRIN2A | c.2800A>G (p.Met934Val) c.2329A>G (p.Met777Val) n.2393A>G c.*170A>G (n.*170A>G) c.2389A>G (p.Met797Val) n.2439A>G c.2641A>G (p.Met881Val) c.2542A>G (p.Met848Val) c.2956A>G (p.Met986Val) | |
16 | g.9764744T>G | CA394709330 | GRIN2A | c.2800A>C (p.Met934Leu) c.2329A>C (p.Met777Leu) n.2393A>C c.*170A>C (n.*170A>C) c.2389A>C (p.Met797Leu) n.2439A>C c.2641A>C (p.Met881Leu) c.2542A>C (p.Met848Leu) c.2956A>C (p.Met986Leu) | |
16 | g.9764745G>A | CA493693461 | GRIN2A | c.2799C>T (p.Asp933=) c.2328C>T (p.Asp776=) n.2392C>T c.*169C>T (n.*169C>T) c.2388C>T (p.Asp796=) n.2438C>T c.2640C>T (p.Asp880=) c.2541C>T (p.Asp847=) c.2955C>T (p.Asp985=) | dbSNP |
16 | g.9764745G>C | CA394709332 | GRIN2A | c.2799C>G (p.Asp933Glu) c.2328C>G (p.Asp776Glu) n.2392C>G c.*169C>G (n.*169C>G) c.2388C>G (p.Asp796Glu) n.2438C>G c.2640C>G (p.Asp880Glu) c.2541C>G (p.Asp847Glu) c.2955C>G (p.Asp985Glu) | dbSNP |
16 | g.9764745G>T | CA394709333 | GRIN2A | c.2799C>A (p.Asp933Glu) c.2328C>A (p.Asp776Glu) n.2392C>A c.*169C>A (n.*169C>A) c.2388C>A (p.Asp796Glu) n.2438C>A c.2640C>A (p.Asp880Glu) c.2541C>A (p.Asp847Glu) c.2955C>A (p.Asp985Glu) | |
16 | g.9764746T>A | CA394709334 | GRIN2A | c.2798A>T (p.Asp933Val) c.2327A>T (p.Asp776Val) n.2391A>T c.*168A>T (n.*168A>T) c.2387A>T (p.Asp796Val) n.2437A>T c.2639A>T (p.Asp880Val) c.2540A>T (p.Asp847Val) c.2954A>T (p.Asp985Val) | |
16 | g.9764746T>C | CA394709335 | GRIN2A | c.2798A>G (p.Asp933Gly) c.2327A>G (p.Asp776Gly) n.2391A>G c.*168A>G (n.*168A>G) c.2387A>G (p.Asp796Gly) n.2437A>G c.2639A>G (p.Asp880Gly) c.2540A>G (p.Asp847Gly) c.2954A>G (p.Asp985Gly) | dbSNP gnomAD v4 |
16 | g.9764746T>G | CA394709336 | GRIN2A | c.2798A>C (p.Asp933Ala) c.2327A>C (p.Asp776Ala) n.2391A>C c.*168A>C (n.*168A>C) c.2387A>C (p.Asp796Ala) n.2437A>C c.2639A>C (p.Asp880Ala) c.2540A>C (p.Asp847Ala) c.2954A>C (p.Asp985Ala) | |
16 | g.9764746T= | CA2206693390 | GRIN2A | c.2798A= (p.Asp933=) c.2327A= (p.Asp776=) n.2391A= c.*168A= (n.*168A=) c.2387A= (p.Asp796=) n.2437A= c.2639A= (p.Asp880=) c.2540A= (p.Asp847=) c.2954A= (p.Asp985=) | |
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 |