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.9764099C>A | CA394707850 | GRIN2A | c.3445G>T (p.Asp1149Tyr) c.2974G>T (p.Asp992Tyr) n.3038G>T c.*815G>T (n.*815G>T) c.3034G>T (p.Asp1012Tyr) n.3084G>T c.3286G>T (p.Asp1096Tyr) c.3187G>T (p.Asp1063Tyr) c.3601G>T (p.Asp1201Tyr) | dbSNP |
16 | g.9764099C>G | CA394707851 | GRIN2A | c.3445G>C (p.Asp1149His) c.2974G>C (p.Asp992His) n.3038G>C c.*815G>C (n.*815G>C) c.3034G>C (p.Asp1012His) n.3084G>C c.3286G>C (p.Asp1096His) c.3187G>C (p.Asp1063His) c.3601G>C (p.Asp1201His) | dbSNP |
16 | g.9764099C>T | CA394707849 | GRIN2A | c.3445G>A (p.Asp1149Asn) c.2974G>A (p.Asp992Asn) n.3038G>A c.*815G>A (n.*815G>A) c.3034G>A (p.Asp1012Asn) n.3084G>A c.3286G>A (p.Asp1096Asn) c.3187G>A (p.Asp1063Asn) c.3601G>A (p.Asp1201Asn) | dbSNP gnomAD v4 |
16 | g.9764100C>A | CA493692841 | GRIN2A | c.3444G>T (p.Pro1148=) c.2973G>T (p.Pro991=) n.3037G>T c.*814G>T (n.*814G>T) c.3033G>T (p.Pro1011=) n.3083G>T c.3285G>T (p.Pro1095=) c.3186G>T (p.Pro1062=) c.3600G>T (p.Pro1200=) | ClinVar COSMIC |
16 | g.9764100C= | CA2206693051 | GRIN2A | c.3444G= (p.Pro1148=) c.2973G= (p.Pro991=) n.3037G= c.*814G= (n.*814G=) c.3033G= (p.Pro1011=) n.3083G= c.3285G= (p.Pro1095=) c.3186G= (p.Pro1062=) c.3600G= (p.Pro1200=) | |
16 | g.9764100C>G | CA493692836 | GRIN2A | c.3444G>C (p.Pro1148=) c.2973G>C (p.Pro991=) n.3037G>C c.*814G>C (n.*814G>C) c.3033G>C (p.Pro1011=) n.3083G>C c.3285G>C (p.Pro1095=) c.3186G>C (p.Pro1062=) c.3600G>C (p.Pro1200=) | |
16 | g.9764100C>T | CA493692838 | GRIN2A | c.3444G>A (p.Pro1148=) c.2973G>A (p.Pro991=) n.3037G>A c.*814G>A (n.*814G>A) c.3033G>A (p.Pro1011=) n.3083G>A c.3285G>A (p.Pro1095=) c.3186G>A (p.Pro1062=) c.3600G>A (p.Pro1200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764101G>A | CA7896315 | GRIN2A | c.3443C>T (p.Pro1148Leu) c.2972C>T (p.Pro991Leu) n.3036C>T c.*813C>T (n.*813C>T) c.3032C>T (p.Pro1011Leu) n.3082C>T c.3284C>T (p.Pro1095Leu) c.3185C>T (p.Pro1062Leu) c.3599C>T (p.Pro1200Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764101G>C | CA394707852 | GRIN2A | c.3443C>G (p.Pro1148Arg) c.2972C>G (p.Pro991Arg) n.3036C>G c.*813C>G (n.*813C>G) c.3032C>G (p.Pro1011Arg) n.3082C>G c.3284C>G (p.Pro1095Arg) c.3185C>G (p.Pro1062Arg) c.3599C>G (p.Pro1200Arg) | dbSNP |
16 | g.9764101G= | CA2206693052 | GRIN2A | c.3443C= (p.Pro1148=) c.2972C= (p.Pro991=) n.3036C= c.*813C= (n.*813C=) c.3032C= (p.Pro1011=) n.3082C= c.3284C= (p.Pro1095=) c.3185C= (p.Pro1062=) c.3599C= (p.Pro1200=) | |
16 | g.9764101G>T | CA394707853 | GRIN2A | c.3443C>A (p.Pro1148Gln) c.2972C>A (p.Pro991Gln) n.3036C>A c.*813C>A (n.*813C>A) c.3032C>A (p.Pro1011Gln) n.3082C>A c.3284C>A (p.Pro1095Gln) c.3185C>A (p.Pro1062Gln) c.3599C>A (p.Pro1200Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764102G>A | CA394707854 | GRIN2A | c.3442C>T (p.Pro1148Ser) c.2971C>T (p.Pro991Ser) n.3035C>T c.*812C>T (n.*812C>T) c.3031C>T (p.Pro1011Ser) n.3081C>T c.3283C>T (p.Pro1095Ser) c.3184C>T (p.Pro1062Ser) c.3598C>T (p.Pro1200Ser) | dbSNP gnomAD v4 COSMIC |
16 | g.9764102G>C | CA394707855 | GRIN2A | c.3442C>G (p.Pro1148Ala) c.2971C>G (p.Pro991Ala) n.3035C>G c.*812C>G (n.*812C>G) c.3031C>G (p.Pro1011Ala) n.3081C>G c.3283C>G (p.Pro1095Ala) c.3184C>G (p.Pro1062Ala) c.3598C>G (p.Pro1200Ala) | dbSNP |
16 | g.9764102G>T | CA394707856 | GRIN2A | c.3442C>A (p.Pro1148Thr) c.2971C>A (p.Pro991Thr) n.3035C>A c.*812C>A (n.*812C>A) c.3031C>A (p.Pro1011Thr) n.3081C>A c.3283C>A (p.Pro1095Thr) c.3184C>A (p.Pro1062Thr) c.3598C>A (p.Pro1200Thr) | dbSNP |
16 | g.9764103G>A | CA493692845 | GRIN2A | c.3441C>T (p.Phe1147=) c.2970C>T (p.Phe990=) n.3034C>T c.*811C>T (n.*811C>T) c.3030C>T (p.Phe1010=) n.3080C>T c.3282C>T (p.Phe1094=) c.3183C>T (p.Phe1061=) c.3597C>T (p.Phe1199=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764103G>C | CA394707857 | GRIN2A | c.3441C>G (p.Phe1147Leu) c.2970C>G (p.Phe990Leu) n.3034C>G c.*811C>G (n.*811C>G) c.3030C>G (p.Phe1010Leu) n.3080C>G c.3282C>G (p.Phe1094Leu) c.3183C>G (p.Phe1061Leu) c.3597C>G (p.Phe1199Leu) | dbSNP |
16 | g.9764103G= | CA2206693053 | GRIN2A | c.3441C= (p.Phe1147=) c.2970C= (p.Phe990=) n.3034C= c.*811C= (n.*811C=) c.3030C= (p.Phe1010=) n.3080C= c.3282C= (p.Phe1094=) c.3183C= (p.Phe1061=) c.3597C= (p.Phe1199=) | |
16 | g.9764103G>T | CA394707858 | GRIN2A | c.3441C>A (p.Phe1147Leu) c.2970C>A (p.Phe990Leu) n.3034C>A c.*811C>A (n.*811C>A) c.3030C>A (p.Phe1010Leu) n.3080C>A c.3282C>A (p.Phe1094Leu) c.3183C>A (p.Phe1061Leu) c.3597C>A (p.Phe1199Leu) | dbSNP |
16 | g.9764104A>C | CA394707859 | GRIN2A | c.3440T>G (p.Phe1147Cys) c.2969T>G (p.Phe990Cys) n.3033T>G c.*810T>G (n.*810T>G) c.3029T>G (p.Phe1010Cys) n.3079T>G c.3281T>G (p.Phe1094Cys) c.3182T>G (p.Phe1061Cys) c.3596T>G (p.Phe1199Cys) | |
16 | g.9764104A>G | CA394707860 | GRIN2A | c.3440T>C (p.Phe1147Ser) c.2969T>C (p.Phe990Ser) n.3033T>C c.*810T>C (n.*810T>C) c.3029T>C (p.Phe1010Ser) n.3079T>C c.3281T>C (p.Phe1094Ser) c.3182T>C (p.Phe1061Ser) c.3596T>C (p.Phe1199Ser) | dbSNP |
16 | g.9764104A>T | CA394707861 | GRIN2A | c.3440T>A (p.Phe1147Tyr) c.2969T>A (p.Phe990Tyr) n.3033T>A c.*810T>A (n.*810T>A) c.3029T>A (p.Phe1010Tyr) n.3079T>A c.3281T>A (p.Phe1094Tyr) c.3182T>A (p.Phe1061Tyr) c.3596T>A (p.Phe1199Tyr) | dbSNP |
16 | g.9764105A>C | CA394707862 | GRIN2A | c.3439T>G (p.Phe1147Val) c.2968T>G (p.Phe990Val) n.3032T>G c.*809T>G (n.*809T>G) c.3028T>G (p.Phe1010Val) n.3078T>G c.3280T>G (p.Phe1094Val) c.3181T>G (p.Phe1061Val) c.3595T>G (p.Phe1199Val) | |
16 | g.9764105A>G | CA394707863 | GRIN2A | c.3439T>C (p.Phe1147Leu) c.2968T>C (p.Phe990Leu) n.3032T>C c.*809T>C (n.*809T>C) c.3028T>C (p.Phe1010Leu) n.3078T>C c.3280T>C (p.Phe1094Leu) c.3181T>C (p.Phe1061Leu) c.3595T>C (p.Phe1199Leu) | dbSNP |
16 | g.9764105A>T | CA394707864 | GRIN2A | c.3439T>A (p.Phe1147Ile) c.2968T>A (p.Phe990Ile) n.3032T>A c.*809T>A (n.*809T>A) c.3028T>A (p.Phe1010Ile) n.3078T>A c.3280T>A (p.Phe1094Ile) c.3181T>A (p.Phe1061Ile) c.3595T>A (p.Phe1199Ile) | dbSNP |
16 | g.9764106G>A | CA493692851 | GRIN2A | c.3438C>T (p.Asp1146=) c.2967C>T (p.Asp989=) n.3031C>T c.*808C>T (n.*808C>T) c.3027C>T (p.Asp1009=) n.3077C>T c.3279C>T (p.Asp1093=) c.3180C>T (p.Asp1060=) c.3594C>T (p.Asp1198=) | dbSNP gnomAD v4 |
16 | g.9764106G>C | CA394707866 | GRIN2A | c.3438C>G (p.Asp1146Glu) c.2967C>G (p.Asp989Glu) n.3031C>G c.*808C>G (n.*808C>G) c.3027C>G (p.Asp1009Glu) n.3077C>G c.3279C>G (p.Asp1093Glu) c.3180C>G (p.Asp1060Glu) c.3594C>G (p.Asp1198Glu) | dbSNP |
16 | g.9764106G>T | CA394707865 | GRIN2A | c.3438C>A (p.Asp1146Glu) c.2967C>A (p.Asp989Glu) n.3031C>A c.*808C>A (n.*808C>A) c.3027C>A (p.Asp1009Glu) n.3077C>A c.3279C>A (p.Asp1093Glu) c.3180C>A (p.Asp1060Glu) c.3594C>A (p.Asp1198Glu) | |
16 | g.9764107T>A | CA394707867 | GRIN2A | c.3437A>T (p.Asp1146Val) c.2966A>T (p.Asp989Val) n.3030A>T c.*807A>T (n.*807A>T) c.3026A>T (p.Asp1009Val) n.3076A>T c.3278A>T (p.Asp1093Val) c.3179A>T (p.Asp1060Val) c.3593A>T (p.Asp1198Val) | |
16 | g.9764107T>C | CA394707868 | GRIN2A | c.3437A>G (p.Asp1146Gly) c.2966A>G (p.Asp989Gly) n.3030A>G c.*807A>G (n.*807A>G) c.3026A>G (p.Asp1009Gly) n.3076A>G c.3278A>G (p.Asp1093Gly) c.3179A>G (p.Asp1060Gly) c.3593A>G (p.Asp1198Gly) | |
16 | g.9764107T>G | CA394707869 | GRIN2A | c.3437A>C (p.Asp1146Ala) c.2966A>C (p.Asp989Ala) n.3030A>C c.*807A>C (n.*807A>C) c.3026A>C (p.Asp1009Ala) n.3076A>C c.3278A>C (p.Asp1093Ala) c.3179A>C (p.Asp1060Ala) c.3593A>C (p.Asp1198Ala) | |
16 | g.9764108C>A | CA394707870 | GRIN2A | c.3436G>T (p.Asp1146Tyr) c.2965G>T (p.Asp989Tyr) n.3029G>T c.*806G>T (n.*806G>T) c.3025G>T (p.Asp1009Tyr) n.3075G>T c.3277G>T (p.Asp1093Tyr) c.3178G>T (p.Asp1060Tyr) c.3592G>T (p.Asp1198Tyr) | dbSNP |
16 | g.9764108C>G | CA394707871 | GRIN2A | c.3436G>C (p.Asp1146His) c.2965G>C (p.Asp989His) n.3029G>C c.*806G>C (n.*806G>C) c.3025G>C (p.Asp1009His) n.3075G>C c.3277G>C (p.Asp1093His) c.3178G>C (p.Asp1060His) c.3592G>C (p.Asp1198His) | dbSNP |
16 | g.9764108C>T | CA394707872 | GRIN2A | c.3436G>A (p.Asp1146Asn) c.2965G>A (p.Asp989Asn) n.3029G>A c.*806G>A (n.*806G>A) c.3025G>A (p.Asp1009Asn) n.3075G>A c.3277G>A (p.Asp1093Asn) c.3178G>A (p.Asp1060Asn) c.3592G>A (p.Asp1198Asn) | dbSNP |
16 | g.9764109C>A | CA493692854 | GRIN2A | c.3435G>T (p.Val1145=) c.2964G>T (p.Val988=) n.3028G>T c.*805G>T (n.*805G>T) c.3024G>T (p.Val1008=) n.3074G>T c.3276G>T (p.Val1092=) c.3177G>T (p.Val1059=) c.3591G>T (p.Val1197=) | dbSNP |
16 | g.9764109C>G | CA493692855 | GRIN2A | c.3435G>C (p.Val1145=) c.2964G>C (p.Val988=) n.3028G>C c.*805G>C (n.*805G>C) c.3024G>C (p.Val1008=) n.3074G>C c.3276G>C (p.Val1092=) c.3177G>C (p.Val1059=) c.3591G>C (p.Val1197=) | |
16 | g.9764109C>T | CA493692856 | GRIN2A | c.3435G>A (p.Val1145=) c.2964G>A (p.Val988=) n.3028G>A c.*805G>A (n.*805G>A) c.3024G>A (p.Val1008=) n.3074G>A c.3276G>A (p.Val1092=) c.3177G>A (p.Val1059=) c.3591G>A (p.Val1197=) | dbSNP |
16 | g.9764110A>C | CA394707875 | GRIN2A | c.3434T>G (p.Val1145Gly) c.2963T>G (p.Val988Gly) n.3027T>G c.*804T>G (n.*804T>G) c.3023T>G (p.Val1008Gly) n.3073T>G c.3275T>G (p.Val1092Gly) c.3176T>G (p.Val1059Gly) c.3590T>G (p.Val1197Gly) | |
16 | g.9764110A>G | CA394707874 | GRIN2A | c.3434T>C (p.Val1145Ala) c.2963T>C (p.Val988Ala) n.3027T>C c.*804T>C (n.*804T>C) c.3023T>C (p.Val1008Ala) n.3073T>C c.3275T>C (p.Val1092Ala) c.3176T>C (p.Val1059Ala) c.3590T>C (p.Val1197Ala) | dbSNP |
16 | g.9764110A>T | CA394707873 | GRIN2A | c.3434T>A (p.Val1145Glu) c.2963T>A (p.Val988Glu) n.3027T>A c.*804T>A (n.*804T>A) c.3023T>A (p.Val1008Glu) n.3073T>A c.3275T>A (p.Val1092Glu) c.3176T>A (p.Val1059Glu) c.3590T>A (p.Val1197Glu) | dbSNP |
16 | g.9764111C>A | CA394707876 | GRIN2A | c.3433G>T (p.Val1145Leu) c.2962G>T (p.Val988Leu) n.3026G>T c.*803G>T (n.*803G>T) c.3022G>T (p.Val1008Leu) n.3072G>T c.3274G>T (p.Val1092Leu) c.3175G>T (p.Val1059Leu) c.3589G>T (p.Val1197Leu) | dbSNP gnomAD v4 |
16 | g.9764111C= | CA2206693054 | GRIN2A | c.3433G= (p.Val1145=) c.2962G= (p.Val988=) n.3026G= c.*803G= (n.*803G=) c.3022G= (p.Val1008=) n.3072G= c.3274G= (p.Val1092=) c.3175G= (p.Val1059=) c.3589G= (p.Val1197=) | |
16 | g.9764111C>G | CA394707877 | GRIN2A | c.3433G>C (p.Val1145Leu) c.2962G>C (p.Val988Leu) n.3026G>C c.*803G>C (n.*803G>C) c.3022G>C (p.Val1008Leu) n.3072G>C c.3274G>C (p.Val1092Leu) c.3175G>C (p.Val1059Leu) c.3589G>C (p.Val1197Leu) | dbSNP |
16 | g.9764111C>T | CA7896316 | GRIN2A | c.3433G>A (p.Val1145Met) c.2962G>A (p.Val988Met) n.3026G>A c.*803G>A (n.*803G>A) c.3022G>A (p.Val1008Met) n.3072G>A c.3274G>A (p.Val1092Met) c.3175G>A (p.Val1059Met) c.3589G>A (p.Val1197Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764112G>A | CA7896317 | GRIN2A | c.3432C>T (p.Asn1144=) c.2961C>T (p.Asn987=) n.3025C>T c.*802C>T (n.*802C>T) c.3021C>T (p.Asn1007=) n.3071C>T c.3273C>T (p.Asn1091=) c.3174C>T (p.Asn1058=) c.3588C>T (p.Asn1196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764112G>C | CA394707878 | GRIN2A | c.3432C>G (p.Asn1144Lys) c.2961C>G (p.Asn987Lys) n.3025C>G c.*802C>G (n.*802C>G) c.3021C>G (p.Asn1007Lys) n.3071C>G c.3273C>G (p.Asn1091Lys) c.3174C>G (p.Asn1058Lys) c.3588C>G (p.Asn1196Lys) | dbSNP |
16 | g.9764112G= | CA2206693055 | GRIN2A | c.3432C= (p.Asn1144=) c.2961C= (p.Asn987=) n.3025C= c.*802C= (n.*802C=) c.3021C= (p.Asn1007=) n.3071C= c.3273C= (p.Asn1091=) c.3174C= (p.Asn1058=) c.3588C= (p.Asn1196=) | |
16 | g.9764112G>T | CA394707879 | GRIN2A | c.3432C>A (p.Asn1144Lys) c.2961C>A (p.Asn987Lys) n.3025C>A c.*802C>A (n.*802C>A) c.3021C>A (p.Asn1007Lys) n.3071C>A c.3273C>A (p.Asn1091Lys) c.3174C>A (p.Asn1058Lys) c.3588C>A (p.Asn1196Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764113T>A | CA394707880 | GRIN2A | c.3431A>T (p.Asn1144Ile) c.2960A>T (p.Asn987Ile) n.3024A>T c.*801A>T (n.*801A>T) c.3020A>T (p.Asn1007Ile) n.3070A>T c.3272A>T (p.Asn1091Ile) c.3173A>T (p.Asn1058Ile) c.3587A>T (p.Asn1196Ile) | dbSNP |
16 | g.9764113T>C | CA394707882 | GRIN2A | c.3431A>G (p.Asn1144Ser) c.2960A>G (p.Asn987Ser) n.3024A>G c.*801A>G (n.*801A>G) c.3020A>G (p.Asn1007Ser) n.3070A>G c.3272A>G (p.Asn1091Ser) c.3173A>G (p.Asn1058Ser) c.3587A>G (p.Asn1196Ser) | dbSNP |
16 | g.9764113T>G | CA394707881 | GRIN2A | c.3431A>C (p.Asn1144Thr) c.2960A>C (p.Asn987Thr) n.3024A>C c.*801A>C (n.*801A>C) c.3020A>C (p.Asn1007Thr) n.3070A>C c.3272A>C (p.Asn1091Thr) c.3173A>C (p.Asn1058Thr) c.3587A>C (p.Asn1196Thr) | dbSNP |
16 | g.9764114T>A | CA394707883 | GRIN2A | c.3430A>T (p.Asn1144Tyr) c.2959A>T (p.Asn987Tyr) n.3023A>T c.*800A>T (n.*800A>T) c.3019A>T (p.Asn1007Tyr) n.3069A>T c.3271A>T (p.Asn1091Tyr) c.3172A>T (p.Asn1058Tyr) c.3586A>T (p.Asn1196Tyr) | dbSNP |
16 | g.9764114T>C | CA394707884 | GRIN2A | c.3430A>G (p.Asn1144Asp) c.2959A>G (p.Asn987Asp) n.3023A>G c.*800A>G (n.*800A>G) c.3019A>G (p.Asn1007Asp) n.3069A>G c.3271A>G (p.Asn1091Asp) c.3172A>G (p.Asn1058Asp) c.3586A>G (p.Asn1196Asp) | |
16 | g.9764114T>G | CA394707885 | GRIN2A | c.3430A>C (p.Asn1144His) c.2959A>C (p.Asn987His) n.3023A>C c.*800A>C (n.*800A>C) c.3019A>C (p.Asn1007His) n.3069A>C c.3271A>C (p.Asn1091His) c.3172A>C (p.Asn1058His) c.3586A>C (p.Asn1196His) | dbSNP |
16 | g.9764115C>A | CA394707886 | GRIN2A | c.3429G>T (p.Glu1143Asp) c.2958G>T (p.Glu986Asp) n.3022G>T c.*799G>T (n.*799G>T) c.3018G>T (p.Glu1006Asp) n.3068G>T c.3270G>T (p.Glu1090Asp) c.3171G>T (p.Glu1057Asp) c.3585G>T (p.Glu1195Asp) | |
16 | g.9764115C>G | CA394707887 | GRIN2A | c.3429G>C (p.Glu1143Asp) c.2958G>C (p.Glu986Asp) n.3022G>C c.*799G>C (n.*799G>C) c.3018G>C (p.Glu1006Asp) n.3068G>C c.3270G>C (p.Glu1090Asp) c.3171G>C (p.Glu1057Asp) c.3585G>C (p.Glu1195Asp) | |
16 | g.9764115C>T | CA493692865 | GRIN2A | c.3429G>A (p.Glu1143=) c.2958G>A (p.Glu986=) n.3022G>A c.*799G>A (n.*799G>A) c.3018G>A (p.Glu1006=) n.3068G>A c.3270G>A (p.Glu1090=) c.3171G>A (p.Glu1057=) c.3585G>A (p.Glu1195=) | |
16 | g.9764116T>A | CA394707888 | GRIN2A | c.3428A>T (p.Glu1143Val) c.2957A>T (p.Glu986Val) n.3021A>T c.*798A>T (n.*798A>T) c.3017A>T (p.Glu1006Val) n.3067A>T c.3269A>T (p.Glu1090Val) c.3170A>T (p.Glu1057Val) c.3584A>T (p.Glu1195Val) | |
16 | g.9764116T>C | CA394707889 | GRIN2A | c.3428A>G (p.Glu1143Gly) c.2957A>G (p.Glu986Gly) n.3021A>G c.*798A>G (n.*798A>G) c.3017A>G (p.Glu1006Gly) n.3067A>G c.3269A>G (p.Glu1090Gly) c.3170A>G (p.Glu1057Gly) c.3584A>G (p.Glu1195Gly) | |
16 | g.9764116T>G | CA394707890 | GRIN2A | c.3428A>C (p.Glu1143Ala) c.2957A>C (p.Glu986Ala) n.3021A>C c.*798A>C (n.*798A>C) c.3017A>C (p.Glu1006Ala) n.3067A>C c.3269A>C (p.Glu1090Ala) c.3170A>C (p.Glu1057Ala) c.3584A>C (p.Glu1195Ala) | |
16 | g.9764117C>A | CA394707891 | GRIN2A | c.3427G>T (p.Glu1143Ter) c.2956G>T (p.Glu986Ter) n.3020G>T c.*797G>T (n.*797G>T) c.3016G>T (p.Glu1006Ter) n.3066G>T c.3268G>T (p.Glu1090Ter) c.3169G>T (p.Glu1057Ter) c.3583G>T (p.Glu1195Ter) | dbSNP |
16 | g.9764117C= | CA2206693056 | GRIN2A | c.3427G= (p.Glu1143=) c.2956G= (p.Glu986=) n.3020G= c.*797G= (n.*797G=) c.3016G= (p.Glu1006=) n.3066G= c.3268G= (p.Glu1090=) c.3169G= (p.Glu1057=) c.3583G= (p.Glu1195=) | |
16 | g.9764117C>G | CA394707892 | GRIN2A | c.3427G>C (p.Glu1143Gln) c.2956G>C (p.Glu986Gln) n.3020G>C c.*797G>C (n.*797G>C) c.3016G>C (p.Glu1006Gln) n.3066G>C c.3268G>C (p.Glu1090Gln) c.3169G>C (p.Glu1057Gln) c.3583G>C (p.Glu1195Gln) | dbSNP |
16 | g.9764117C>T | CA7896318 | GRIN2A | c.3427G>A (p.Glu1143Lys) c.2956G>A (p.Glu986Lys) n.3020G>A c.*797G>A (n.*797G>A) c.3016G>A (p.Glu1006Lys) n.3066G>A c.3268G>A (p.Glu1090Lys) c.3169G>A (p.Glu1057Lys) c.3583G>A (p.Glu1195Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764118G>A | CA7896319 | GRIN2A | c.3426C>T (p.Pro1142=) c.2955C>T (p.Pro985=) n.3019C>T c.*796C>T (n.*796C>T) c.3015C>T (p.Pro1005=) n.3065C>T c.3267C>T (p.Pro1089=) c.3168C>T (p.Pro1056=) c.3582C>T (p.Pro1194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764118G>C | CA493692866 | GRIN2A | c.3426C>G (p.Pro1142=) c.2955C>G (p.Pro985=) n.3019C>G c.*796C>G (n.*796C>G) c.3015C>G (p.Pro1005=) n.3065C>G c.3267C>G (p.Pro1089=) c.3168C>G (p.Pro1056=) c.3582C>G (p.Pro1194=) | dbSNP |
16 | g.9764118G= | CA2206693057 | GRIN2A | c.3426C= (p.Pro1142=) c.2955C= (p.Pro985=) n.3019C= c.*796C= (n.*796C=) c.3015C= (p.Pro1005=) n.3065C= c.3267C= (p.Pro1089=) c.3168C= (p.Pro1056=) c.3582C= (p.Pro1194=) | |
16 | g.9764118G>T | CA493692867 | GRIN2A | c.3426C>A (p.Pro1142=) c.2955C>A (p.Pro985=) n.3019C>A c.*796C>A (n.*796C>A) c.3015C>A (p.Pro1005=) n.3065C>A c.3267C>A (p.Pro1089=) c.3168C>A (p.Pro1056=) c.3582C>A (p.Pro1194=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764120del | CA2580092130 | GRIN2A | c.3426del (p.Glu1143ArgfsTer25) c.2955del (p.Glu986ArgfsTer25) n.3019del c.*796del (n.*796del) c.3015del (p.Glu1006ArgfsTer25) n.3065del c.3267del (p.Glu1090ArgfsTer25) c.3168del (p.Glu1057ArgfsTer25) c.3582del (p.Glu1195ArgfsTer25) | ClinVar |
16 | g.9764119G>A | CA394707894 | GRIN2A | c.3425C>T (p.Pro1142Leu) c.2954C>T (p.Pro985Leu) n.3018C>T c.*795C>T (n.*795C>T) c.3014C>T (p.Pro1005Leu) n.3064C>T c.3266C>T (p.Pro1089Leu) c.3167C>T (p.Pro1056Leu) c.3581C>T (p.Pro1194Leu) | dbSNP |
16 | g.9764119G>C | CA394707895 | GRIN2A | c.3425C>G (p.Pro1142Arg) c.2954C>G (p.Pro985Arg) n.3018C>G c.*795C>G (n.*795C>G) c.3014C>G (p.Pro1005Arg) n.3064C>G c.3266C>G (p.Pro1089Arg) c.3167C>G (p.Pro1056Arg) c.3581C>G (p.Pro1194Arg) | dbSNP |
16 | g.9764119G>T | CA394707893 | GRIN2A | c.3425C>A (p.Pro1142His) c.2954C>A (p.Pro985His) n.3018C>A c.*795C>A (n.*795C>A) c.3014C>A (p.Pro1005His) n.3064C>A c.3266C>A (p.Pro1089His) c.3167C>A (p.Pro1056His) c.3581C>A (p.Pro1194His) | dbSNP |
16 | g.9764120G>A | CA394707896 | GRIN2A | c.3424C>T (p.Pro1142Ser) c.2953C>T (p.Pro985Ser) n.3017C>T c.*794C>T (n.*794C>T) c.3013C>T (p.Pro1005Ser) n.3063C>T c.3265C>T (p.Pro1089Ser) c.3166C>T (p.Pro1056Ser) c.3580C>T (p.Pro1194Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764120G>C | CA394707897 | GRIN2A | c.3424C>G (p.Pro1142Ala) c.2953C>G (p.Pro985Ala) n.3017C>G c.*794C>G (n.*794C>G) c.3013C>G (p.Pro1005Ala) n.3063C>G c.3265C>G (p.Pro1089Ala) c.3166C>G (p.Pro1056Ala) c.3580C>G (p.Pro1194Ala) | dbSNP |
16 | g.9764120G= | CA2206693058 | GRIN2A | c.3424C= (p.Pro1142=) c.2953C= (p.Pro985=) n.3017C= c.*794C= (n.*794C=) c.3013C= (p.Pro1005=) n.3063C= c.3265C= (p.Pro1089=) c.3166C= (p.Pro1056=) c.3580C= (p.Pro1194=) | |
16 | g.9764120G>T | CA394707898 | GRIN2A | c.3424C>A (p.Pro1142Thr) c.2953C>A (p.Pro985Thr) n.3017C>A c.*794C>A (n.*794C>A) c.3013C>A (p.Pro1005Thr) n.3063C>A c.3265C>A (p.Pro1089Thr) c.3166C>A (p.Pro1056Thr) c.3580C>A (p.Pro1194Thr) | dbSNP COSMIC |
16 | g.9764121C>A | CA7896321 | GRIN2A | c.3423G>T (p.Leu1141=) c.2952G>T (p.Leu984=) n.3016G>T c.*793G>T (n.*793G>T) c.3012G>T (p.Leu1004=) n.3062G>T c.3264G>T (p.Leu1088=) c.3165G>T (p.Leu1055=) c.3579G>T (p.Leu1193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764121C= | CA2206693059 | GRIN2A | c.3423G= (p.Leu1141=) c.2952G= (p.Leu984=) n.3016G= c.*793G= (n.*793G=) c.3012G= (p.Leu1004=) n.3062G= c.3264G= (p.Leu1088=) c.3165G= (p.Leu1055=) c.3579G= (p.Leu1193=) | |
16 | g.9764121C>G | CA7896320 | GRIN2A | c.3423G>C (p.Leu1141=) c.2952G>C (p.Leu984=) n.3016G>C c.*793G>C (n.*793G>C) c.3012G>C (p.Leu1004=) n.3062G>C c.3264G>C (p.Leu1088=) c.3165G>C (p.Leu1055=) c.3579G>C (p.Leu1193=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764121C>T | CA493692870 | GRIN2A | c.3423G>A (p.Leu1141=) c.2952G>A (p.Leu984=) n.3016G>A c.*793G>A (n.*793G>A) c.3012G>A (p.Leu1004=) n.3062G>A c.3264G>A (p.Leu1088=) c.3165G>A (p.Leu1055=) c.3579G>A (p.Leu1193=) | |
16 | g.9764122A= | CA2206693060 | GRIN2A | c.3422T= (p.Leu1141=) c.2951T= (p.Leu984=) n.3015T= c.*792T= (n.*792T=) c.3011T= (p.Leu1004=) n.3061T= c.3263T= (p.Leu1088=) c.3164T= (p.Leu1055=) c.3578T= (p.Leu1193=) | |
16 | g.9764122A>C | CA394707901 | GRIN2A | c.3422T>G (p.Leu1141Arg) c.2951T>G (p.Leu984Arg) n.3015T>G c.*792T>G (n.*792T>G) c.3011T>G (p.Leu1004Arg) n.3061T>G c.3263T>G (p.Leu1088Arg) c.3164T>G (p.Leu1055Arg) c.3578T>G (p.Leu1193Arg) | |
16 | g.9764122A>G | CA394707899 | GRIN2A | c.3422T>C (p.Leu1141Pro) c.2951T>C (p.Leu984Pro) n.3015T>C c.*792T>C (n.*792T>C) c.3011T>C (p.Leu1004Pro) n.3061T>C c.3263T>C (p.Leu1088Pro) c.3164T>C (p.Leu1055Pro) c.3578T>C (p.Leu1193Pro) | dbSNP |
16 | g.9764122A>T | CA394707900 | GRIN2A | c.3422T>A (p.Leu1141Gln) c.2951T>A (p.Leu984Gln) n.3015T>A c.*792T>A (n.*792T>A) c.3011T>A (p.Leu1004Gln) n.3061T>A c.3263T>A (p.Leu1088Gln) c.3164T>A (p.Leu1055Gln) c.3578T>A (p.Leu1193Gln) | dbSNP |
16 | g.9764123G>A | CA493692871 | GRIN2A | c.3421C>T (p.Leu1141=) c.2950C>T (p.Leu984=) n.3014C>T c.*791C>T (n.*791C>T) c.3010C>T (p.Leu1004=) n.3060C>T c.3262C>T (p.Leu1088=) c.3163C>T (p.Leu1055=) c.3577C>T (p.Leu1193=) | dbSNP gnomAD v4 |
16 | g.9764123G>C | CA394707902 | GRIN2A | c.3421C>G (p.Leu1141Val) c.2950C>G (p.Leu984Val) n.3014C>G c.*791C>G (n.*791C>G) c.3010C>G (p.Leu1004Val) n.3060C>G c.3262C>G (p.Leu1088Val) c.3163C>G (p.Leu1055Val) c.3577C>G (p.Leu1193Val) | dbSNP |
16 | g.9764123G>T | CA394707903 | GRIN2A | c.3421C>A (p.Leu1141Met) c.2950C>A (p.Leu984Met) n.3014C>A c.*791C>A (n.*791C>A) c.3010C>A (p.Leu1004Met) n.3060C>A c.3262C>A (p.Leu1088Met) c.3163C>A (p.Leu1055Met) c.3577C>A (p.Leu1193Met) | |
16 | g.9764124G>A | CA493692875 | GRIN2A | c.3420C>T (p.Thr1140=) c.2949C>T (p.Thr983=) n.3013C>T c.*790C>T (n.*790C>T) c.3009C>T (p.Thr1003=) n.3059C>T c.3261C>T (p.Thr1087=) c.3162C>T (p.Thr1054=) c.3576C>T (p.Thr1192=) | dbSNP |
16 | g.9764124G>C | CA493692876 | GRIN2A | c.3420C>G (p.Thr1140=) c.2949C>G (p.Thr983=) n.3013C>G c.*790C>G (n.*790C>G) c.3009C>G (p.Thr1003=) n.3059C>G c.3261C>G (p.Thr1087=) c.3162C>G (p.Thr1054=) c.3576C>G (p.Thr1192=) | dbSNP |
16 | g.9764124G= | CA2206693061 | GRIN2A | c.3420C= (p.Thr1140=) c.2949C= (p.Thr983=) n.3013C= c.*790C= (n.*790C=) c.3009C= (p.Thr1003=) n.3059C= c.3261C= (p.Thr1087=) c.3162C= (p.Thr1054=) c.3576C= (p.Thr1192=) | |
16 | g.9764124G>T | CA493692878 | GRIN2A | c.3420C>A (p.Thr1140=) c.2949C>A (p.Thr983=) n.3013C>A c.*790C>A (n.*790C>A) c.3009C>A (p.Thr1003=) n.3059C>A c.3261C>A (p.Thr1087=) c.3162C>A (p.Thr1054=) c.3576C>A (p.Thr1192=) | dbSNP |
16 | g.9764125G>A | CA7896322 | GRIN2A | c.3419C>T (p.Thr1140Ile) c.2948C>T (p.Thr983Ile) n.3012C>T c.*789C>T (n.*789C>T) c.3008C>T (p.Thr1003Ile) n.3058C>T c.3260C>T (p.Thr1087Ile) c.3161C>T (p.Thr1054Ile) c.3575C>T (p.Thr1192Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764125G>C | CA394707904 | GRIN2A | c.3419C>G (p.Thr1140Ser) c.2948C>G (p.Thr983Ser) n.3012C>G c.*789C>G (n.*789C>G) c.3008C>G (p.Thr1003Ser) n.3058C>G c.3260C>G (p.Thr1087Ser) c.3161C>G (p.Thr1054Ser) c.3575C>G (p.Thr1192Ser) | dbSNP |
16 | g.9764125G= | CA2206693062 | GRIN2A | c.3419C= (p.Thr1140=) c.2948C= (p.Thr983=) n.3012C= c.*789C= (n.*789C=) c.3008C= (p.Thr1003=) n.3058C= c.3260C= (p.Thr1087=) c.3161C= (p.Thr1054=) c.3575C= (p.Thr1192=) | |
16 | g.9764125G>T | CA394707905 | GRIN2A | c.3419C>A (p.Thr1140Asn) c.2948C>A (p.Thr983Asn) n.3012C>A c.*789C>A (n.*789C>A) c.3008C>A (p.Thr1003Asn) n.3058C>A c.3260C>A (p.Thr1087Asn) c.3161C>A (p.Thr1054Asn) c.3575C>A (p.Thr1192Asn) | gnomAD v4 |
16 | g.9764126T>A | CA394707906 | GRIN2A | c.3418A>T (p.Thr1140Ser) c.2947A>T (p.Thr983Ser) n.3011A>T c.*788A>T (n.*788A>T) c.3007A>T (p.Thr1003Ser) n.3057A>T c.3259A>T (p.Thr1087Ser) c.3160A>T (p.Thr1054Ser) c.3574A>T (p.Thr1192Ser) | dbSNP gnomAD v4 |
16 | g.9764126T>C | CA394707908 | GRIN2A | c.3418A>G (p.Thr1140Ala) c.2947A>G (p.Thr983Ala) n.3011A>G c.*788A>G (n.*788A>G) c.3007A>G (p.Thr1003Ala) n.3057A>G c.3259A>G (p.Thr1087Ala) c.3160A>G (p.Thr1054Ala) c.3574A>G (p.Thr1192Ala) | dbSNP |
16 | g.9764126T>G | CA394707907 | GRIN2A | c.3418A>C (p.Thr1140Pro) c.2947A>C (p.Thr983Pro) n.3011A>C c.*788A>C (n.*788A>C) c.3007A>C (p.Thr1003Pro) n.3057A>C c.3259A>C (p.Thr1087Pro) c.3160A>C (p.Thr1054Pro) c.3574A>C (p.Thr1192Pro) | dbSNP |
16 | g.9764127C>A | CA493692882 | GRIN2A | c.3417G>T (p.Val1139=) c.2946G>T (p.Val982=) n.3010G>T c.*787G>T (n.*787G>T) c.3006G>T (p.Val1002=) n.3056G>T c.3258G>T (p.Val1086=) c.3159G>T (p.Val1053=) c.3573G>T (p.Val1191=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764127C= | CA2206693063 | GRIN2A | c.3417G= (p.Val1139=) c.2946G= (p.Val982=) n.3010G= c.*787G= (n.*787G=) c.3006G= (p.Val1002=) n.3056G= c.3258G= (p.Val1086=) c.3159G= (p.Val1053=) c.3573G= (p.Val1191=) | |
16 | g.9764127C>G | CA493692884 | GRIN2A | c.3417G>C (p.Val1139=) c.2946G>C (p.Val982=) n.3010G>C c.*787G>C (n.*787G>C) c.3006G>C (p.Val1002=) n.3056G>C c.3258G>C (p.Val1086=) c.3159G>C (p.Val1053=) c.3573G>C (p.Val1191=) | |
16 | g.9764127C>T | CA493692883 | GRIN2A | c.3417G>A (p.Val1139=) c.2946G>A (p.Val982=) n.3010G>A c.*787G>A (n.*787G>A) c.3006G>A (p.Val1002=) n.3056G>A c.3258G>A (p.Val1086=) c.3159G>A (p.Val1053=) c.3573G>A (p.Val1191=) | dbSNP gnomAD v4 COSMIC |
16 | g.9764128A= | CA2206693064 | GRIN2A | c.3416T= (p.Val1139=) c.2945T= (p.Val982=) n.3009T= c.*786T= (n.*786T=) c.3005T= (p.Val1002=) n.3055T= c.3257T= (p.Val1086=) c.3158T= (p.Val1053=) c.3572T= (p.Val1191=) | |
16 | g.9764128A>C | CA394707909 | GRIN2A | c.3416T>G (p.Val1139Gly) c.2945T>G (p.Val982Gly) n.3009T>G c.*786T>G (n.*786T>G) c.3005T>G (p.Val1002Gly) n.3055T>G c.3257T>G (p.Val1086Gly) c.3158T>G (p.Val1053Gly) c.3572T>G (p.Val1191Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764128A>G | CA394707910 | GRIN2A | c.3416T>C (p.Val1139Ala) c.2945T>C (p.Val982Ala) n.3009T>C c.*786T>C (n.*786T>C) c.3005T>C (p.Val1002Ala) n.3055T>C c.3257T>C (p.Val1086Ala) c.3158T>C (p.Val1053Ala) c.3572T>C (p.Val1191Ala) | dbSNP gnomAD v4 |
16 | g.9764128A>T | CA394707911 | GRIN2A | c.3416T>A (p.Val1139Glu) c.2945T>A (p.Val982Glu) n.3009T>A c.*786T>A (n.*786T>A) c.3005T>A (p.Val1002Glu) n.3055T>A c.3257T>A (p.Val1086Glu) c.3158T>A (p.Val1053Glu) c.3572T>A (p.Val1191Glu) | dbSNP |
16 | g.9764129C>A | CA394707912 | GRIN2A | c.3415G>T (p.Val1139Leu) c.2944G>T (p.Val982Leu) n.3008G>T c.*785G>T (n.*785G>T) c.3004G>T (p.Val1002Leu) n.3054G>T c.3256G>T (p.Val1086Leu) c.3157G>T (p.Val1053Leu) c.3571G>T (p.Val1191Leu) | dbSNP |
16 | g.9764129C>G | CA394707913 | GRIN2A | c.3415G>C (p.Val1139Leu) c.2944G>C (p.Val982Leu) n.3008G>C c.*785G>C (n.*785G>C) c.3004G>C (p.Val1002Leu) n.3054G>C c.3256G>C (p.Val1086Leu) c.3157G>C (p.Val1053Leu) c.3571G>C (p.Val1191Leu) | dbSNP |
16 | g.9764129C>T | CA394707914 | GRIN2A | c.3415G>A (p.Val1139Met) c.2944G>A (p.Val982Met) n.3008G>A c.*785G>A (n.*785G>A) c.3004G>A (p.Val1002Met) n.3054G>A c.3256G>A (p.Val1086Met) c.3157G>A (p.Val1053Met) c.3571G>A (p.Val1191Met) | dbSNP gnomAD v4 |
16 | g.9764130A= | CA2206693065 | GRIN2A | c.3414T= (p.Asn1138=) c.2943T= (p.Asn981=) n.3007T= c.*784T= (n.*784T=) c.3003T= (p.Asn1001=) n.3053T= c.3255T= (p.Asn1085=) c.3156T= (p.Asn1052=) c.3570T= (p.Asn1190=) | |
16 | g.9764130A>C | CA394707915 | GRIN2A | c.3414T>G (p.Asn1138Lys) c.2943T>G (p.Asn981Lys) n.3007T>G c.*784T>G (n.*784T>G) c.3003T>G (p.Asn1001Lys) n.3053T>G c.3255T>G (p.Asn1085Lys) c.3156T>G (p.Asn1052Lys) c.3570T>G (p.Asn1190Lys) | |
16 | g.9764130A>G | CA493692889 | GRIN2A | c.3414T>C (p.Asn1138=) c.2943T>C (p.Asn981=) n.3007T>C c.*784T>C (n.*784T>C) c.3003T>C (p.Asn1001=) n.3053T>C c.3255T>C (p.Asn1085=) c.3156T>C (p.Asn1052=) c.3570T>C (p.Asn1190=) | dbSNP |
16 | g.9764130A>T | CA394707916 | GRIN2A | c.3414T>A (p.Asn1138Lys) c.2943T>A (p.Asn981Lys) n.3007T>A c.*784T>A (n.*784T>A) c.3003T>A (p.Asn1001Lys) n.3053T>A c.3255T>A (p.Asn1085Lys) c.3156T>A (p.Asn1052Lys) c.3570T>A (p.Asn1190Lys) | |
16 | g.9764131T>A | CA225879 | GRIN2A | c.3413A>T (p.Asn1138Ile) c.2942A>T (p.Asn981Ile) n.3006A>T c.*783A>T (n.*783A>T) c.3002A>T (p.Asn1001Ile) n.3052A>T c.3254A>T (p.Asn1085Ile) c.3155A>T (p.Asn1052Ile) c.3569A>T (p.Asn1190Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.9764131T>C | CA394707917 | GRIN2A | c.3413A>G (p.Asn1138Ser) c.2942A>G (p.Asn981Ser) n.3006A>G c.*783A>G (n.*783A>G) c.3002A>G (p.Asn1001Ser) n.3052A>G c.3254A>G (p.Asn1085Ser) c.3155A>G (p.Asn1052Ser) c.3569A>G (p.Asn1190Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.9764131T>G | CA394707918 | GRIN2A | c.3413A>C (p.Asn1138Thr) c.2942A>C (p.Asn981Thr) n.3006A>C c.*783A>C (n.*783A>C) c.3002A>C (p.Asn1001Thr) n.3052A>C c.3254A>C (p.Asn1085Thr) c.3155A>C (p.Asn1052Thr) c.3569A>C (p.Asn1190Thr) | dbSNP |
16 | g.9764131T= | CA2206693066 | GRIN2A | c.3413A= (p.Asn1138=) c.2942A= (p.Asn981=) n.3006A= c.*783A= (n.*783A=) c.3002A= (p.Asn1001=) n.3052A= c.3254A= (p.Asn1085=) c.3155A= (p.Asn1052=) c.3569A= (p.Asn1190=) | |
16 | g.9764132T>A | CA394707919 | GRIN2A | c.3412A>T (p.Asn1138Tyr) c.2941A>T (p.Asn981Tyr) n.3005A>T c.*782A>T (n.*782A>T) c.3001A>T (p.Asn1001Tyr) n.3051A>T c.3253A>T (p.Asn1085Tyr) c.3154A>T (p.Asn1052Tyr) c.3568A>T (p.Asn1190Tyr) | |
16 | g.9764132T>C | CA394707920 | GRIN2A | c.3412A>G (p.Asn1138Asp) c.2941A>G (p.Asn981Asp) n.3005A>G c.*782A>G (n.*782A>G) c.3001A>G (p.Asn1001Asp) n.3051A>G c.3253A>G (p.Asn1085Asp) c.3154A>G (p.Asn1052Asp) c.3568A>G (p.Asn1190Asp) | |
16 | g.9764132T>G | CA394707921 | GRIN2A | c.3412A>C (p.Asn1138His) c.2941A>C (p.Asn981His) n.3005A>C c.*782A>C (n.*782A>C) c.3001A>C (p.Asn1001His) n.3051A>C c.3253A>C (p.Asn1085His) c.3154A>C (p.Asn1052His) c.3568A>C (p.Asn1190His) | |
16 | g.9764133T>A | CA394707923 | GRIN2A | c.3411A>T (p.Glu1137Asp) c.2940A>T (p.Glu980Asp) n.3004A>T c.*781A>T (n.*781A>T) c.3000A>T (p.Glu1000Asp) n.3050A>T c.3252A>T (p.Glu1084Asp) c.3153A>T (p.Glu1051Asp) c.3567A>T (p.Glu1189Asp) | |
16 | g.9764133T>C | CA493692891 | GRIN2A | c.3411A>G (p.Glu1137=) c.2940A>G (p.Glu980=) n.3004A>G c.*781A>G (n.*781A>G) c.3000A>G (p.Glu1000=) n.3050A>G c.3252A>G (p.Glu1084=) c.3153A>G (p.Glu1051=) c.3567A>G (p.Glu1189=) | dbSNP |
16 | g.9764133T>G | CA394707922 | GRIN2A | c.3411A>C (p.Glu1137Asp) c.2940A>C (p.Glu980Asp) n.3004A>C c.*781A>C (n.*781A>C) c.3000A>C (p.Glu1000Asp) n.3050A>C c.3252A>C (p.Glu1084Asp) c.3153A>C (p.Glu1051Asp) c.3567A>C (p.Glu1189Asp) | dbSNP |
16 | g.9764133T= | CA2206693067 | GRIN2A | c.3411A= (p.Glu1137=) c.2940A= (p.Glu980=) n.3004A= c.*781A= (n.*781A=) c.3000A= (p.Glu1000=) n.3050A= c.3252A= (p.Glu1084=) c.3153A= (p.Glu1051=) c.3567A= (p.Glu1189=) | |
16 | g.9764134T>A | CA394707924 | GRIN2A | c.3410A>T (p.Glu1137Val) c.2939A>T (p.Glu980Val) n.3003A>T c.*780A>T (n.*780A>T) c.2999A>T (p.Glu1000Val) n.3049A>T c.3251A>T (p.Glu1084Val) c.3152A>T (p.Glu1051Val) c.3566A>T (p.Glu1189Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764134T>C | CA394707925 | GRIN2A | c.3410A>G (p.Glu1137Gly) c.2939A>G (p.Glu980Gly) n.3003A>G c.*780A>G (n.*780A>G) c.2999A>G (p.Glu1000Gly) n.3049A>G c.3251A>G (p.Glu1084Gly) c.3152A>G (p.Glu1051Gly) c.3566A>G (p.Glu1189Gly) | dbSNP |
16 | g.9764134T>G | CA394707926 | GRIN2A | c.3410A>C (p.Glu1137Ala) c.2939A>C (p.Glu980Ala) n.3003A>C c.*780A>C (n.*780A>C) c.2999A>C (p.Glu1000Ala) n.3049A>C c.3251A>C (p.Glu1084Ala) c.3152A>C (p.Glu1051Ala) c.3566A>C (p.Glu1189Ala) | dbSNP |
16 | g.9764134T= | CA2206693068 | GRIN2A | c.3410A= (p.Glu1137=) c.2939A= (p.Glu980=) n.3003A= c.*780A= (n.*780A=) c.2999A= (p.Glu1000=) n.3049A= c.3251A= (p.Glu1084=) c.3152A= (p.Glu1051=) c.3566A= (p.Glu1189=) | |
16 | g.9764135C>A | CA394707927 | GRIN2A | c.3409G>T (p.Glu1137Ter) c.2938G>T (p.Glu980Ter) n.3002G>T c.*779G>T (n.*779G>T) c.2998G>T (p.Glu1000Ter) n.3048G>T c.3250G>T (p.Glu1084Ter) c.3151G>T (p.Glu1051Ter) c.3565G>T (p.Glu1189Ter) | dbSNP |
16 | g.9764135C= | CA2206693069 | GRIN2A | c.3409G= (p.Glu1137=) c.2938G= (p.Glu980=) n.3002G= c.*779G= (n.*779G=) c.2998G= (p.Glu1000=) n.3048G= c.3250G= (p.Glu1084=) c.3151G= (p.Glu1051=) c.3565G= (p.Glu1189=) | |
16 | g.9764135C>G | CA394707928 | GRIN2A | c.3409G>C (p.Glu1137Gln) c.2938G>C (p.Glu980Gln) n.3002G>C c.*779G>C (n.*779G>C) c.2998G>C (p.Glu1000Gln) n.3048G>C c.3250G>C (p.Glu1084Gln) c.3151G>C (p.Glu1051Gln) c.3565G>C (p.Glu1189Gln) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764135C>T | CA394707929 | GRIN2A | c.3409G>A (p.Glu1137Lys) c.2938G>A (p.Glu980Lys) n.3002G>A c.*779G>A (n.*779G>A) c.2998G>A (p.Glu1000Lys) n.3048G>A c.3250G>A (p.Glu1084Lys) c.3151G>A (p.Glu1051Lys) c.3565G>A (p.Glu1189Lys) | ClinVar dbSNP |
16 | g.9764136A>C | CA493692893 | GRIN2A | c.3408T>G (p.Val1136=) c.2937T>G (p.Val979=) n.3001T>G c.*778T>G (n.*778T>G) c.2997T>G (p.Val999=) n.3047T>G c.3249T>G (p.Val1083=) c.3150T>G (p.Val1050=) c.3564T>G (p.Val1188=) | |
16 | g.9764136A>G | CA493692894 | GRIN2A | c.3408T>C (p.Val1136=) c.2937T>C (p.Val979=) n.3001T>C c.*778T>C (n.*778T>C) c.2997T>C (p.Val999=) n.3047T>C c.3249T>C (p.Val1083=) c.3150T>C (p.Val1050=) c.3564T>C (p.Val1188=) | dbSNP |
16 | g.9764136A>T | CA493692895 | GRIN2A | c.3408T>A (p.Val1136=) c.2937T>A (p.Val979=) n.3001T>A c.*778T>A (n.*778T>A) c.2997T>A (p.Val999=) n.3047T>A c.3249T>A (p.Val1083=) c.3150T>A (p.Val1050=) c.3564T>A (p.Val1188=) | dbSNP |
16 | g.9764137A= | CA2206693070 | GRIN2A | c.3407T= (p.Val1136=) c.2936T= (p.Val979=) n.3000T= c.*777T= (n.*777T=) c.2996T= (p.Val999=) n.3046T= c.3248T= (p.Val1083=) c.3149T= (p.Val1050=) c.3563T= (p.Val1188=) | |
16 | g.9764137A>C | CA394707932 | GRIN2A | c.3407T>G (p.Val1136Gly) c.2936T>G (p.Val979Gly) n.3000T>G c.*777T>G (n.*777T>G) c.2996T>G (p.Val999Gly) n.3046T>G c.3248T>G (p.Val1083Gly) c.3149T>G (p.Val1050Gly) c.3563T>G (p.Val1188Gly) | dbSNP |
16 | g.9764137A>G | CA394707930 | GRIN2A | c.3407T>C (p.Val1136Ala) c.2936T>C (p.Val979Ala) n.3000T>C c.*777T>C (n.*777T>C) c.2996T>C (p.Val999Ala) n.3046T>C c.3248T>C (p.Val1083Ala) c.3149T>C (p.Val1050Ala) c.3563T>C (p.Val1188Ala) | dbSNP |
16 | g.9764137A>T | CA394707931 | GRIN2A | c.3407T>A (p.Val1136Asp) c.2936T>A (p.Val979Asp) n.3000T>A c.*777T>A (n.*777T>A) c.2996T>A (p.Val999Asp) n.3046T>A c.3248T>A (p.Val1083Asp) c.3149T>A (p.Val1050Asp) c.3563T>A (p.Val1188Asp) | dbSNP |
16 | g.9764138C>A | CA394707933 | GRIN2A | c.3406G>T (p.Val1136Phe) c.2935G>T (p.Val979Phe) n.2999G>T c.*776G>T (n.*776G>T) c.2995G>T (p.Val999Phe) n.3045G>T c.3247G>T (p.Val1083Phe) c.3148G>T (p.Val1050Phe) c.3562G>T (p.Val1188Phe) | |
16 | g.9764138C>G | CA394707934 | GRIN2A | c.3406G>C (p.Val1136Leu) c.2935G>C (p.Val979Leu) n.2999G>C c.*776G>C (n.*776G>C) c.2995G>C (p.Val999Leu) n.3045G>C c.3247G>C (p.Val1083Leu) c.3148G>C (p.Val1050Leu) c.3562G>C (p.Val1188Leu) | dbSNP |
16 | g.9764138C>T | CA394707935 | GRIN2A | c.3406G>A (p.Val1136Ile) c.2935G>A (p.Val979Ile) n.2999G>A c.*776G>A (n.*776G>A) c.2995G>A (p.Val999Ile) n.3045G>A c.3247G>A (p.Val1083Ile) c.3148G>A (p.Val1050Ile) c.3562G>A (p.Val1188Ile) | dbSNP |
16 | g.9764139A>C | CA394707936 | GRIN2A | c.3405T>G (p.Phe1135Leu) c.2934T>G (p.Phe978Leu) n.2998T>G c.*775T>G (n.*775T>G) c.2994T>G (p.Phe998Leu) n.3044T>G c.3246T>G (p.Phe1082Leu) c.3147T>G (p.Phe1049Leu) c.3561T>G (p.Phe1187Leu) | |
16 | g.9764139A>G | CA493692900 | GRIN2A | c.3405T>C (p.Phe1135=) c.2934T>C (p.Phe978=) n.2998T>C c.*775T>C (n.*775T>C) c.2994T>C (p.Phe998=) n.3044T>C c.3246T>C (p.Phe1082=) c.3147T>C (p.Phe1049=) c.3561T>C (p.Phe1187=) | |
16 | g.9764139A>T | CA394707937 | GRIN2A | c.3405T>A (p.Phe1135Leu) c.2934T>A (p.Phe978Leu) n.2998T>A c.*775T>A (n.*775T>A) c.2994T>A (p.Phe998Leu) n.3044T>A c.3246T>A (p.Phe1082Leu) c.3147T>A (p.Phe1049Leu) c.3561T>A (p.Phe1187Leu) | |
16 | g.9764140A>C | CA394707938 | GRIN2A | c.3404T>G (p.Phe1135Cys) c.2933T>G (p.Phe978Cys) n.2997T>G c.*774T>G (n.*774T>G) c.2993T>G (p.Phe998Cys) n.3043T>G c.3245T>G (p.Phe1082Cys) c.3146T>G (p.Phe1049Cys) c.3560T>G (p.Phe1187Cys) | |
16 | g.9764140A>G | CA394707940 | GRIN2A | c.3404T>C (p.Phe1135Ser) c.2933T>C (p.Phe978Ser) n.2997T>C c.*774T>C (n.*774T>C) c.2993T>C (p.Phe998Ser) n.3043T>C c.3245T>C (p.Phe1082Ser) c.3146T>C (p.Phe1049Ser) c.3560T>C (p.Phe1187Ser) | |
16 | g.9764140A>T | CA394707939 | GRIN2A | c.3404T>A (p.Phe1135Tyr) c.2933T>A (p.Phe978Tyr) n.2997T>A c.*774T>A (n.*774T>A) c.2993T>A (p.Phe998Tyr) n.3043T>A c.3245T>A (p.Phe1082Tyr) c.3146T>A (p.Phe1049Tyr) c.3560T>A (p.Phe1187Tyr) | dbSNP |
16 | g.9764141A>C | CA394707941 | GRIN2A | c.3403T>G (p.Phe1135Val) c.2932T>G (p.Phe978Val) n.2996T>G c.*773T>G (n.*773T>G) c.2992T>G (p.Phe998Val) n.3042T>G c.3244T>G (p.Phe1082Val) c.3145T>G (p.Phe1049Val) c.3559T>G (p.Phe1187Val) | |
16 | g.9764141A>G | CA394707942 | GRIN2A | c.3403T>C (p.Phe1135Leu) c.2932T>C (p.Phe978Leu) n.2996T>C c.*773T>C (n.*773T>C) c.2992T>C (p.Phe998Leu) n.3042T>C c.3244T>C (p.Phe1082Leu) c.3145T>C (p.Phe1049Leu) c.3559T>C (p.Phe1187Leu) | |
16 | g.9764141A>T | CA394707943 | GRIN2A | c.3403T>A (p.Phe1135Ile) c.2932T>A (p.Phe978Ile) n.2996T>A c.*773T>A (n.*773T>A) c.2992T>A (p.Phe998Ile) n.3042T>A c.3244T>A (p.Phe1082Ile) c.3145T>A (p.Phe1049Ile) c.3559T>A (p.Phe1187Ile) | dbSNP |
16 | g.9764142C>A | CA394707944 | GRIN2A | c.3402G>T (p.Gln1134His) c.2931G>T (p.Gln977His) n.2995G>T c.*772G>T (n.*772G>T) c.2991G>T (p.Gln997His) n.3041G>T c.3243G>T (p.Gln1081His) c.3144G>T (p.Gln1048His) c.3558G>T (p.Gln1186His) | |
16 | g.9764142C>G | CA394707945 | GRIN2A | c.3402G>C (p.Gln1134His) c.2931G>C (p.Gln977His) n.2995G>C c.*772G>C (n.*772G>C) c.2991G>C (p.Gln997His) n.3041G>C c.3243G>C (p.Gln1081His) c.3144G>C (p.Gln1048His) c.3558G>C (p.Gln1186His) | ClinVar dbSNP |
16 | g.9764142C>T | CA493692904 | GRIN2A | c.3402G>A (p.Gln1134=) c.2931G>A (p.Gln977=) n.2995G>A c.*772G>A (n.*772G>A) c.2991G>A (p.Gln997=) n.3041G>A c.3243G>A (p.Gln1081=) c.3144G>A (p.Gln1048=) c.3558G>A (p.Gln1186=) | dbSNP |
16 | g.9764143T>A | CA394707948 | GRIN2A | c.3401A>T (p.Gln1134Leu) c.2930A>T (p.Gln977Leu) n.2994A>T c.*771A>T (n.*771A>T) c.2990A>T (p.Gln997Leu) n.3040A>T c.3242A>T (p.Gln1081Leu) c.3143A>T (p.Gln1048Leu) c.3557A>T (p.Gln1186Leu) | dbSNP |
16 | g.9764143T>C | CA394707947 | GRIN2A | c.3401A>G (p.Gln1134Arg) c.2930A>G (p.Gln977Arg) n.2994A>G c.*771A>G (n.*771A>G) c.2990A>G (p.Gln997Arg) n.3040A>G c.3242A>G (p.Gln1081Arg) c.3143A>G (p.Gln1048Arg) c.3557A>G (p.Gln1186Arg) | |
16 | g.9764143T>G | CA394707946 | GRIN2A | c.3401A>C (p.Gln1134Pro) c.2930A>C (p.Gln977Pro) n.2994A>C c.*771A>C (n.*771A>C) c.2990A>C (p.Gln997Pro) n.3040A>C c.3242A>C (p.Gln1081Pro) c.3143A>C (p.Gln1048Pro) c.3557A>C (p.Gln1186Pro) | |
16 | g.9764144G>A | CA394707949 | GRIN2A | c.3400C>T (p.Gln1134Ter) c.2929C>T (p.Gln977Ter) n.2993C>T c.*770C>T (n.*770C>T) c.2989C>T (p.Gln997Ter) n.3039C>T c.3241C>T (p.Gln1081Ter) c.3142C>T (p.Gln1048Ter) c.3556C>T (p.Gln1186Ter) | dbSNP |
16 | g.9764144G>C | CA394707950 | GRIN2A | c.3400C>G (p.Gln1134Glu) c.2929C>G (p.Gln977Glu) n.2993C>G c.*770C>G (n.*770C>G) c.2989C>G (p.Gln997Glu) n.3039C>G c.3241C>G (p.Gln1081Glu) c.3142C>G (p.Gln1048Glu) c.3556C>G (p.Gln1186Glu) | dbSNP |
16 | g.9764144G= | CA2206693071 | GRIN2A | c.3400C= (p.Gln1134=) c.2929C= (p.Gln977=) n.2993C= c.*770C= (n.*770C=) c.2989C= (p.Gln997=) n.3039C= c.3241C= (p.Gln1081=) c.3142C= (p.Gln1048=) c.3556C= (p.Gln1186=) | |
16 | g.9764144G>T | CA7896323 | GRIN2A | c.3400C>A (p.Gln1134Lys) c.2929C>A (p.Gln977Lys) n.2993C>A c.*770C>A (n.*770C>A) c.2989C>A (p.Gln997Lys) n.3039C>A c.3241C>A (p.Gln1081Lys) c.3142C>A (p.Gln1048Lys) c.3556C>A (p.Gln1186Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764145G>A | CA493692910 | GRIN2A | c.3399C>T (p.Pro1133=) c.2928C>T (p.Pro976=) n.2992C>T c.*769C>T (n.*769C>T) c.2988C>T (p.Pro996=) n.3038C>T c.3240C>T (p.Pro1080=) c.3141C>T (p.Pro1047=) c.3555C>T (p.Pro1185=) | dbSNP |
16 | g.9764145G>C | CA493692911 | GRIN2A | c.3399C>G (p.Pro1133=) c.2928C>G (p.Pro976=) n.2992C>G c.*769C>G (n.*769C>G) c.2988C>G (p.Pro996=) n.3038C>G c.3240C>G (p.Pro1080=) c.3141C>G (p.Pro1047=) c.3555C>G (p.Pro1185=) | dbSNP |
16 | g.9764145G= | CA2206693072 | GRIN2A | c.3399C= (p.Pro1133=) c.2928C= (p.Pro976=) n.2992C= c.*769C= (n.*769C=) c.2988C= (p.Pro996=) n.3038C= c.3240C= (p.Pro1080=) c.3141C= (p.Pro1047=) c.3555C= (p.Pro1185=) | |
16 | g.9764145G>T | CA493692912 | GRIN2A | c.3399C>A (p.Pro1133=) c.2928C>A (p.Pro976=) n.2992C>A c.*769C>A (n.*769C>A) c.2988C>A (p.Pro996=) n.3038C>A c.3240C>A (p.Pro1080=) c.3141C>A (p.Pro1047=) c.3555C>A (p.Pro1185=) | dbSNP COSMIC |
16 | g.9764146G>A | CA394707951 | GRIN2A | c.3398C>T (p.Pro1133Leu) c.2927C>T (p.Pro976Leu) n.2991C>T c.*768C>T (n.*768C>T) c.2987C>T (p.Pro996Leu) n.3037C>T c.3239C>T (p.Pro1080Leu) c.3140C>T (p.Pro1047Leu) c.3554C>T (p.Pro1185Leu) | dbSNP |
16 | g.9764146G>C | CA394707952 | GRIN2A | c.3398C>G (p.Pro1133Arg) c.2927C>G (p.Pro976Arg) n.2991C>G c.*768C>G (n.*768C>G) c.2987C>G (p.Pro996Arg) n.3037C>G c.3239C>G (p.Pro1080Arg) c.3140C>G (p.Pro1047Arg) c.3554C>G (p.Pro1185Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764146G= | CA2206693073 | GRIN2A | c.3398C= (p.Pro1133=) c.2927C= (p.Pro976=) n.2991C= c.*768C= (n.*768C=) c.2987C= (p.Pro996=) n.3037C= c.3239C= (p.Pro1080=) c.3140C= (p.Pro1047=) c.3554C= (p.Pro1185=) | |
16 | g.9764146G>T | CA394707953 | GRIN2A | c.3398C>A (p.Pro1133His) c.2927C>A (p.Pro976His) n.2991C>A c.*768C>A (n.*768C>A) c.2987C>A (p.Pro996His) n.3037C>A c.3239C>A (p.Pro1080His) c.3140C>A (p.Pro1047His) c.3554C>A (p.Pro1185His) | dbSNP |
16 | g.9764147G>A | CA394707954 | GRIN2A | c.3397C>T (p.Pro1133Ser) c.2926C>T (p.Pro976Ser) n.2990C>T c.*767C>T (n.*767C>T) c.2986C>T (p.Pro996Ser) n.3036C>T c.3238C>T (p.Pro1080Ser) c.3139C>T (p.Pro1047Ser) c.3553C>T (p.Pro1185Ser) | dbSNP gnomAD v4 COSMIC |
16 | g.9764147G>C | CA394707956 | GRIN2A | c.3397C>G (p.Pro1133Ala) c.2926C>G (p.Pro976Ala) n.2990C>G c.*767C>G (n.*767C>G) c.2986C>G (p.Pro996Ala) n.3036C>G c.3238C>G (p.Pro1080Ala) c.3139C>G (p.Pro1047Ala) c.3553C>G (p.Pro1185Ala) | dbSNP |
16 | g.9764147G= | CA2206693074 | GRIN2A | c.3397C= (p.Pro1133=) c.2926C= (p.Pro976=) n.2990C= c.*767C= (n.*767C=) c.2986C= (p.Pro996=) n.3036C= c.3238C= (p.Pro1080=) c.3139C= (p.Pro1047=) c.3553C= (p.Pro1185=) | |
16 | g.9764147G>T | CA394707955 | GRIN2A | c.3397C>A (p.Pro1133Thr) c.2926C>A (p.Pro976Thr) n.2990C>A c.*767C>A (n.*767C>A) c.2986C>A (p.Pro996Thr) n.3036C>A c.3238C>A (p.Pro1080Thr) c.3139C>A (p.Pro1047Thr) c.3553C>A (p.Pro1185Thr) | |
16 | g.9764148T>A | CA493692913 | GRIN2A | c.3396A>T (p.Pro1132=) c.2925A>T (p.Pro975=) n.2989A>T c.*766A>T (n.*766A>T) c.2985A>T (p.Pro995=) n.3035A>T c.3237A>T (p.Pro1079=) c.3138A>T (p.Pro1046=) c.3552A>T (p.Pro1184=) | |
16 | g.9764148T>C | CA493692914 | GRIN2A | c.3396A>G (p.Pro1132=) c.2925A>G (p.Pro975=) n.2989A>G c.*766A>G (n.*766A>G) c.2985A>G (p.Pro995=) n.3035A>G c.3237A>G (p.Pro1079=) c.3138A>G (p.Pro1046=) c.3552A>G (p.Pro1184=) | |
16 | g.9764148T>G | CA493692916 | GRIN2A | c.3396A>C (p.Pro1132=) c.2925A>C (p.Pro975=) n.2989A>C c.*766A>C (n.*766A>C) c.2985A>C (p.Pro995=) n.3035A>C c.3237A>C (p.Pro1079=) c.3138A>C (p.Pro1046=) c.3552A>C (p.Pro1184=) | |
16 | g.9764149G>A | CA394707957 | GRIN2A | c.3395C>T (p.Pro1132Leu) c.2924C>T (p.Pro975Leu) n.2988C>T c.*765C>T (n.*765C>T) c.2984C>T (p.Pro995Leu) n.3034C>T c.3236C>T (p.Pro1079Leu) c.3137C>T (p.Pro1046Leu) c.3551C>T (p.Pro1184Leu) | dbSNP gnomAD v4 COSMIC |
16 | g.9764149G>C | CA394707958 | GRIN2A | c.3395C>G (p.Pro1132Arg) c.2924C>G (p.Pro975Arg) n.2988C>G c.*765C>G (n.*765C>G) c.2984C>G (p.Pro995Arg) n.3034C>G c.3236C>G (p.Pro1079Arg) c.3137C>G (p.Pro1046Arg) c.3551C>G (p.Pro1184Arg) | dbSNP |
16 | g.9764149G>T | CA394707959 | GRIN2A | c.3395C>A (p.Pro1132Gln) c.2924C>A (p.Pro975Gln) n.2988C>A c.*765C>A (n.*765C>A) c.2984C>A (p.Pro995Gln) n.3034C>A c.3236C>A (p.Pro1079Gln) c.3137C>A (p.Pro1046Gln) c.3551C>A (p.Pro1184Gln) | dbSNP |
16 | g.9764150G>A | CA394707960 | GRIN2A | c.3394C>T (p.Pro1132Ser) c.2923C>T (p.Pro975Ser) n.2987C>T c.*764C>T (n.*764C>T) c.2983C>T (p.Pro995Ser) n.3033C>T c.3235C>T (p.Pro1079Ser) c.3136C>T (p.Pro1046Ser) c.3550C>T (p.Pro1184Ser) | dbSNP COSMIC |
16 | g.9764150G>C | CA394707961 | GRIN2A | c.3394C>G (p.Pro1132Ala) c.2923C>G (p.Pro975Ala) n.2987C>G c.*764C>G (n.*764C>G) c.2983C>G (p.Pro995Ala) n.3033C>G c.3235C>G (p.Pro1079Ala) c.3136C>G (p.Pro1046Ala) c.3550C>G (p.Pro1184Ala) | dbSNP |
16 | g.9764150G= | CA2206693075 | GRIN2A | c.3394C= (p.Pro1132=) c.2923C= (p.Pro975=) n.2987C= c.*764C= (n.*764C=) c.2983C= (p.Pro995=) n.3033C= c.3235C= (p.Pro1079=) c.3136C= (p.Pro1046=) c.3550C= (p.Pro1184=) | |
16 | g.9764150G>T | CA7896324 | GRIN2A | c.3394C>A (p.Pro1132Thr) c.2923C>A (p.Pro975Thr) n.2987C>A c.*764C>A (n.*764C>A) c.2983C>A (p.Pro995Thr) n.3033C>A c.3235C>A (p.Pro1079Thr) c.3136C>A (p.Pro1046Thr) c.3550C>A (p.Pro1184Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764151A= | CA2206693076 | GRIN2A | c.3393T= (p.Asp1131=) c.2922T= (p.Asp974=) n.2986T= c.*763T= (n.*763T=) c.2982T= (p.Asp994=) n.3032T= c.3234T= (p.Asp1078=) c.3135T= (p.Asp1045=) c.3549T= (p.Asp1183=) | |
16 | g.9764151A>C | CA394707962 | GRIN2A | c.3393T>G (p.Asp1131Glu) c.2922T>G (p.Asp974Glu) n.2986T>G c.*763T>G (n.*763T>G) c.2982T>G (p.Asp994Glu) n.3032T>G c.3234T>G (p.Asp1078Glu) c.3135T>G (p.Asp1045Glu) c.3549T>G (p.Asp1183Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764151A>G | CA493692921 | GRIN2A | c.3393T>C (p.Asp1131=) c.2922T>C (p.Asp974=) n.2986T>C c.*763T>C (n.*763T>C) c.2982T>C (p.Asp994=) n.3032T>C c.3234T>C (p.Asp1078=) c.3135T>C (p.Asp1045=) c.3549T>C (p.Asp1183=) | |
16 | g.9764151A>T | CA394707963 | GRIN2A | c.3393T>A (p.Asp1131Glu) c.2922T>A (p.Asp974Glu) n.2986T>A c.*763T>A (n.*763T>A) c.2982T>A (p.Asp994Glu) n.3032T>A c.3234T>A (p.Asp1078Glu) c.3135T>A (p.Asp1045Glu) c.3549T>A (p.Asp1183Glu) | dbSNP gnomAD v4 |
16 | g.9764152T>A | CA394707964 | GRIN2A | c.3392A>T (p.Asp1131Val) c.2921A>T (p.Asp974Val) n.2985A>T c.*762A>T (n.*762A>T) c.2981A>T (p.Asp994Val) n.3031A>T c.3233A>T (p.Asp1078Val) c.3134A>T (p.Asp1045Val) c.3548A>T (p.Asp1183Val) | dbSNP |
16 | g.9764152T>C | CA394707965 | GRIN2A | c.3392A>G (p.Asp1131Gly) c.2921A>G (p.Asp974Gly) n.2985A>G c.*762A>G (n.*762A>G) c.2981A>G (p.Asp994Gly) n.3031A>G c.3233A>G (p.Asp1078Gly) c.3134A>G (p.Asp1045Gly) c.3548A>G (p.Asp1183Gly) | |
16 | g.9764152T>G | CA394707966 | GRIN2A | c.3392A>C (p.Asp1131Ala) c.2921A>C (p.Asp974Ala) n.2985A>C c.*762A>C (n.*762A>C) c.2981A>C (p.Asp994Ala) n.3031A>C c.3233A>C (p.Asp1078Ala) c.3134A>C (p.Asp1045Ala) c.3548A>C (p.Asp1183Ala) | dbSNP |
16 | g.9764153C>A | CA394707968 | GRIN2A | c.3391G>T (p.Asp1131Tyr) c.2920G>T (p.Asp974Tyr) n.2984G>T c.*761G>T (n.*761G>T) c.2980G>T (p.Asp994Tyr) n.3030G>T c.3232G>T (p.Asp1078Tyr) c.3133G>T (p.Asp1045Tyr) c.3547G>T (p.Asp1183Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764153C= | CA2206693077 | GRIN2A | c.3391G= (p.Asp1131=) c.2920G= (p.Asp974=) n.2984G= c.*761G= (n.*761G=) c.2980G= (p.Asp994=) n.3030G= c.3232G= (p.Asp1078=) c.3133G= (p.Asp1045=) c.3547G= (p.Asp1183=) | |
16 | g.9764153C>G | CA394707969 | GRIN2A | c.3391G>C (p.Asp1131His) c.2920G>C (p.Asp974His) n.2984G>C c.*761G>C (n.*761G>C) c.2980G>C (p.Asp994His) n.3030G>C c.3232G>C (p.Asp1078His) c.3133G>C (p.Asp1045His) c.3547G>C (p.Asp1183His) | ClinVar dbSNP gnomAD v4 |
16 | g.9764153C>T | CA394707967 | GRIN2A | c.3391G>A (p.Asp1131Asn) c.2920G>A (p.Asp974Asn) n.2984G>A c.*761G>A (n.*761G>A) c.2980G>A (p.Asp994Asn) n.3030G>A c.3232G>A (p.Asp1078Asn) c.3133G>A (p.Asp1045Asn) c.3547G>A (p.Asp1183Asn) | dbSNP |
16 | g.9764154T>A | CA394707970 | GRIN2A | c.3390A>T (p.Leu1130Phe) c.2919A>T (p.Leu973Phe) n.2983A>T c.*760A>T (n.*760A>T) c.2979A>T (p.Leu993Phe) n.3029A>T c.3231A>T (p.Leu1077Phe) c.3132A>T (p.Leu1044Phe) c.3546A>T (p.Leu1182Phe) | |
16 | g.9764154T>C | CA493692925 | GRIN2A | c.3390A>G (p.Leu1130=) c.2919A>G (p.Leu973=) n.2983A>G c.*760A>G (n.*760A>G) c.2979A>G (p.Leu993=) n.3029A>G c.3231A>G (p.Leu1077=) c.3132A>G (p.Leu1044=) c.3546A>G (p.Leu1182=) | |
16 | g.9764154T>G | CA394707971 | GRIN2A | c.3390A>C (p.Leu1130Phe) c.2919A>C (p.Leu973Phe) n.2983A>C c.*760A>C (n.*760A>C) c.2979A>C (p.Leu993Phe) n.3029A>C c.3231A>C (p.Leu1077Phe) c.3132A>C (p.Leu1044Phe) c.3546A>C (p.Leu1182Phe) | ClinVar dbSNP |
16 | g.9764155A>C | CA394707972 | GRIN2A | c.3389T>G (p.Leu1130Ter) c.2918T>G (p.Leu973Ter) n.2982T>G c.*759T>G (n.*759T>G) c.2978T>G (p.Leu993Ter) n.3028T>G c.3230T>G (p.Leu1077Ter) c.3131T>G (p.Leu1044Ter) c.3545T>G (p.Leu1182Ter) | |
16 | g.9764155A>G | CA394707973 | GRIN2A | c.3389T>C (p.Leu1130Ser) c.2918T>C (p.Leu973Ser) n.2982T>C c.*759T>C (n.*759T>C) c.2978T>C (p.Leu993Ser) n.3028T>C c.3230T>C (p.Leu1077Ser) c.3131T>C (p.Leu1044Ser) c.3545T>C (p.Leu1182Ser) | |
16 | g.9764155A>T | CA394707974 | GRIN2A | c.3389T>A (p.Leu1130Ter) c.2918T>A (p.Leu973Ter) n.2982T>A c.*759T>A (n.*759T>A) c.2978T>A (p.Leu993Ter) n.3028T>A c.3230T>A (p.Leu1077Ter) c.3131T>A (p.Leu1044Ter) c.3545T>A (p.Leu1182Ter) | dbSNP |
16 | g.9764156A>C | CA394707975 | GRIN2A | c.3388T>G (p.Leu1130Val) c.2917T>G (p.Leu973Val) n.2981T>G c.*758T>G (n.*758T>G) c.2977T>G (p.Leu993Val) n.3027T>G c.3229T>G (p.Leu1077Val) c.3130T>G (p.Leu1044Val) c.3544T>G (p.Leu1182Val) | |
16 | g.9764156A>G | CA493692929 | GRIN2A | c.3388T>C (p.Leu1130=) c.2917T>C (p.Leu973=) n.2981T>C c.*758T>C (n.*758T>C) c.2977T>C (p.Leu993=) n.3027T>C c.3229T>C (p.Leu1077=) c.3130T>C (p.Leu1044=) c.3544T>C (p.Leu1182=) | ClinVar gnomAD v4 |
16 | g.9764156A>T | CA394707976 | GRIN2A | c.3388T>A (p.Leu1130Ile) c.2917T>A (p.Leu973Ile) n.2981T>A c.*758T>A (n.*758T>A) c.2977T>A (p.Leu993Ile) n.3027T>A c.3229T>A (p.Leu1077Ile) c.3130T>A (p.Leu1044Ile) c.3544T>A (p.Leu1182Ile) | dbSNP |
16 | g.9764157G>A | CA493692930 | GRIN2A | c.3387C>T (p.His1129=) c.2916C>T (p.His972=) n.2980C>T c.*757C>T (n.*757C>T) c.2976C>T (p.His992=) n.3026C>T c.3228C>T (p.His1076=) c.3129C>T (p.His1043=) c.3543C>T (p.His1181=) | ClinVar dbSNP |
16 | g.9764157G>C | CA394707977 | GRIN2A | c.3387C>G (p.His1129Gln) c.2916C>G (p.His972Gln) n.2980C>G c.*757C>G (n.*757C>G) c.2976C>G (p.His992Gln) n.3026C>G c.3228C>G (p.His1076Gln) c.3129C>G (p.His1043Gln) c.3543C>G (p.His1181Gln) | ClinVar dbSNP |
16 | g.9764157G= | CA2206693078 | GRIN2A | c.3387C= (p.His1129=) c.2916C= (p.His972=) n.2980C= c.*757C= (n.*757C=) c.2976C= (p.His992=) n.3026C= c.3228C= (p.His1076=) c.3129C= (p.His1043=) c.3543C= (p.His1181=) | |
16 | g.9764157G>T | CA394707978 | GRIN2A | c.3387C>A (p.His1129Gln) c.2916C>A (p.His972Gln) n.2980C>A c.*757C>A (n.*757C>A) c.2976C>A (p.His992Gln) n.3026C>A c.3228C>A (p.His1076Gln) c.3129C>A (p.His1043Gln) c.3543C>A (p.His1181Gln) | gnomAD v4 |
16 | g.9764158T>A | CA394707979 | GRIN2A | c.3386A>T (p.His1129Leu) c.2915A>T (p.His972Leu) n.2979A>T c.*756A>T (n.*756A>T) c.2975A>T (p.His992Leu) n.3025A>T c.3227A>T (p.His1076Leu) c.3128A>T (p.His1043Leu) c.3542A>T (p.His1181Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764158T>C | CA7896325 | GRIN2A | c.3386A>G (p.His1129Arg) c.2915A>G (p.His972Arg) n.2979A>G c.*756A>G (n.*756A>G) c.2975A>G (p.His992Arg) n.3025A>G c.3227A>G (p.His1076Arg) c.3128A>G (p.His1043Arg) c.3542A>G (p.His1181Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764158T>G | CA394707980 | GRIN2A | c.3386A>C (p.His1129Pro) c.2915A>C (p.His972Pro) n.2979A>C c.*756A>C (n.*756A>C) c.2975A>C (p.His992Pro) n.3025A>C c.3227A>C (p.His1076Pro) c.3128A>C (p.His1043Pro) c.3542A>C (p.His1181Pro) | dbSNP |
16 | g.9764158T= | CA2206693079 | GRIN2A | c.3386A= (p.His1129=) c.2915A= (p.His972=) n.2979A= c.*756A= (n.*756A=) c.2975A= (p.His992=) n.3025A= c.3227A= (p.His1076=) c.3128A= (p.His1043=) c.3542A= (p.His1181=) | |
16 | g.9764159G>A | CA394707981 | GRIN2A | c.3385C>T (p.His1129Tyr) c.2914C>T (p.His972Tyr) n.2978C>T c.*755C>T (n.*755C>T) c.2974C>T (p.His992Tyr) n.3024C>T c.3226C>T (p.His1076Tyr) c.3127C>T (p.His1043Tyr) c.3541C>T (p.His1181Tyr) | ClinVar dbSNP COSMIC |
16 | g.9764159G>C | CA394707982 | GRIN2A | c.3385C>G (p.His1129Asp) c.2914C>G (p.His972Asp) n.2978C>G c.*755C>G (n.*755C>G) c.2974C>G (p.His992Asp) n.3024C>G c.3226C>G (p.His1076Asp) c.3127C>G (p.His1043Asp) c.3541C>G (p.His1181Asp) | dbSNP |
16 | g.9764159G>T | CA394707983 | GRIN2A | c.3385C>A (p.His1129Asn) c.2914C>A (p.His972Asn) n.2978C>A c.*755C>A (n.*755C>A) c.2974C>A (p.His992Asn) n.3024C>A c.3226C>A (p.His1076Asn) c.3127C>A (p.His1043Asn) c.3541C>A (p.His1181Asn) | |
16 | g.9764160G>A | CA493692934 | GRIN2A | c.3384C>T (p.Phe1128=) c.2913C>T (p.Phe971=) n.2977C>T c.*754C>T (n.*754C>T) c.2973C>T (p.Phe991=) n.3023C>T c.3225C>T (p.Phe1075=) c.3126C>T (p.Phe1042=) c.3540C>T (p.Phe1180=) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.9764160G>C | CA394707985 | GRIN2A | c.3384C>G (p.Phe1128Leu) c.2913C>G (p.Phe971Leu) n.2977C>G c.*754C>G (n.*754C>G) c.2973C>G (p.Phe991Leu) n.3023C>G c.3225C>G (p.Phe1075Leu) c.3126C>G (p.Phe1042Leu) c.3540C>G (p.Phe1180Leu) | dbSNP |
16 | g.9764160G= | CA2206693080 | GRIN2A | c.3384C= (p.Phe1128=) c.2913C= (p.Phe971=) n.2977C= c.*754C= (n.*754C=) c.2973C= (p.Phe991=) n.3023C= c.3225C= (p.Phe1075=) c.3126C= (p.Phe1042=) c.3540C= (p.Phe1180=) | |
16 | g.9764160G>T | CA394707984 | GRIN2A | c.3384C>A (p.Phe1128Leu) c.2913C>A (p.Phe971Leu) n.2977C>A c.*754C>A (n.*754C>A) c.2973C>A (p.Phe991Leu) n.3023C>A c.3225C>A (p.Phe1075Leu) c.3126C>A (p.Phe1042Leu) c.3540C>A (p.Phe1180Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764161A>C | CA394707986 | GRIN2A | c.3383T>G (p.Phe1128Cys) c.2912T>G (p.Phe971Cys) n.2976T>G c.*753T>G (n.*753T>G) c.2972T>G (p.Phe991Cys) n.3022T>G c.3224T>G (p.Phe1075Cys) c.3125T>G (p.Phe1042Cys) c.3539T>G (p.Phe1180Cys) | |
16 | g.9764161A>G | CA394707987 | GRIN2A | c.3383T>C (p.Phe1128Ser) c.2912T>C (p.Phe971Ser) n.2976T>C c.*753T>C (n.*753T>C) c.2972T>C (p.Phe991Ser) n.3022T>C c.3224T>C (p.Phe1075Ser) c.3125T>C (p.Phe1042Ser) c.3539T>C (p.Phe1180Ser) | dbSNP |
16 | g.9764161A>T | CA394707988 | GRIN2A | c.3383T>A (p.Phe1128Tyr) c.2912T>A (p.Phe971Tyr) n.2976T>A c.*753T>A (n.*753T>A) c.2972T>A (p.Phe991Tyr) n.3022T>A c.3224T>A (p.Phe1075Tyr) c.3125T>A (p.Phe1042Tyr) c.3539T>A (p.Phe1180Tyr) | |
16 | g.9764162A>C | CA394707990 | GRIN2A | c.3382T>G (p.Phe1128Val) c.2911T>G (p.Phe971Val) n.2975T>G c.*752T>G (n.*752T>G) c.2971T>G (p.Phe991Val) n.3021T>G c.3223T>G (p.Phe1075Val) c.3124T>G (p.Phe1042Val) c.3538T>G (p.Phe1180Val) | |
16 | g.9764162A>G | CA394707991 | GRIN2A | c.3382T>C (p.Phe1128Leu) c.2911T>C (p.Phe971Leu) n.2975T>C c.*752T>C (n.*752T>C) c.2971T>C (p.Phe991Leu) n.3021T>C c.3223T>C (p.Phe1075Leu) c.3124T>C (p.Phe1042Leu) c.3538T>C (p.Phe1180Leu) | dbSNP |
16 | g.9764162A>T | CA394707992 | GRIN2A | c.3382T>A (p.Phe1128Ile) c.2911T>A (p.Phe971Ile) n.2975T>A c.*752T>A (n.*752T>A) c.2971T>A (p.Phe991Ile) n.3021T>A c.3223T>A (p.Phe1075Ile) c.3124T>A (p.Phe1042Ile) c.3538T>A (p.Phe1180Ile) | dbSNP |
16 | g.9764163A>C | CA493692936 | GRIN2A | c.3381T>G (p.Gly1127=) c.2910T>G (p.Gly970=) n.2974T>G c.*751T>G (n.*751T>G) c.2970T>G (p.Gly990=) n.3020T>G c.3222T>G (p.Gly1074=) c.3123T>G (p.Gly1041=) c.3537T>G (p.Gly1179=) | |
16 | g.9764163A>G | CA493692938 | GRIN2A | c.3381T>C (p.Gly1127=) c.2910T>C (p.Gly970=) n.2974T>C c.*751T>C (n.*751T>C) c.2970T>C (p.Gly990=) n.3020T>C c.3222T>C (p.Gly1074=) c.3123T>C (p.Gly1041=) c.3537T>C (p.Gly1179=) | gnomAD v4 |
16 | g.9764163A>T | CA493692940 | GRIN2A | c.3381T>A (p.Gly1127=) c.2910T>A (p.Gly970=) n.2974T>A c.*751T>A (n.*751T>A) c.2970T>A (p.Gly990=) n.3020T>A c.3222T>A (p.Gly1074=) c.3123T>A (p.Gly1041=) c.3537T>A (p.Gly1179=) | |
16 | g.9764164C>A | CA394707993 | GRIN2A | c.3380G>T (p.Gly1127Val) c.2909G>T (p.Gly970Val) n.2973G>T c.*750G>T (n.*750G>T) c.2969G>T (p.Gly990Val) n.3019G>T c.3221G>T (p.Gly1074Val) c.3122G>T (p.Gly1041Val) c.3536G>T (p.Gly1179Val) | dbSNP |
16 | g.9764164C>G | CA394707994 | GRIN2A | c.3380G>C (p.Gly1127Ala) c.2909G>C (p.Gly970Ala) n.2973G>C c.*750G>C (n.*750G>C) c.2969G>C (p.Gly990Ala) n.3019G>C c.3221G>C (p.Gly1074Ala) c.3122G>C (p.Gly1041Ala) c.3536G>C (p.Gly1179Ala) | dbSNP gnomAD v4 |
16 | g.9764164C>T | CA394707995 | GRIN2A | c.3380G>A (p.Gly1127Asp) c.2909G>A (p.Gly970Asp) n.2973G>A c.*750G>A (n.*750G>A) c.2969G>A (p.Gly990Asp) n.3019G>A c.3221G>A (p.Gly1074Asp) c.3122G>A (p.Gly1041Asp) c.3536G>A (p.Gly1179Asp) | |
16 | g.9764165C>A | CA394707996 | GRIN2A | c.3379G>T (p.Gly1127Cys) c.2908G>T (p.Gly970Cys) n.2972G>T c.*749G>T (n.*749G>T) c.2968G>T (p.Gly990Cys) n.3018G>T c.3220G>T (p.Gly1074Cys) c.3121G>T (p.Gly1041Cys) c.3535G>T (p.Gly1179Cys) | COSMIC |
16 | g.9764165C= | CA2206693081 | GRIN2A | c.3379G= (p.Gly1127=) c.2908G= (p.Gly970=) n.2972G= c.*749G= (n.*749G=) c.2968G= (p.Gly990=) n.3018G= c.3220G= (p.Gly1074=) c.3121G= (p.Gly1041=) c.3535G= (p.Gly1179=) | |
16 | g.9764165C>G | CA394707997 | GRIN2A | c.3379G>C (p.Gly1127Arg) c.2908G>C (p.Gly970Arg) n.2972G>C c.*749G>C (n.*749G>C) c.2968G>C (p.Gly990Arg) n.3018G>C c.3220G>C (p.Gly1074Arg) c.3121G>C (p.Gly1041Arg) c.3535G>C (p.Gly1179Arg) | ClinVar dbSNP |
16 | g.9764165C>T | CA394707998 | GRIN2A | c.3379G>A (p.Gly1127Ser) c.2908G>A (p.Gly970Ser) n.2972G>A c.*749G>A (n.*749G>A) c.2968G>A (p.Gly990Ser) n.3018G>A c.3220G>A (p.Gly1074Ser) c.3121G>A (p.Gly1041Ser) c.3535G>A (p.Gly1179Ser) | dbSNP gnomAD v2 |
16 | g.9764166A= | CA2206693082 | GRIN2A | c.3378T= (p.Pro1126=) c.2907T= (p.Pro969=) n.2971T= c.*748T= (n.*748T=) c.2967T= (p.Pro989=) n.3017T= c.3219T= (p.Pro1073=) c.3120T= (p.Pro1040=) c.3534T= (p.Pro1178=) | |
16 | g.9764166A>C | CA493692945 | GRIN2A | c.3378T>G (p.Pro1126=) c.2907T>G (p.Pro969=) n.2971T>G c.*748T>G (n.*748T>G) c.2967T>G (p.Pro989=) n.3017T>G c.3219T>G (p.Pro1073=) c.3120T>G (p.Pro1040=) c.3534T>G (p.Pro1178=) | dbSNP |
16 | g.9764166A>G | CA7896326 | GRIN2A | c.3378T>C (p.Pro1126=) c.2907T>C (p.Pro969=) n.2971T>C c.*748T>C (n.*748T>C) c.2967T>C (p.Pro989=) n.3017T>C c.3219T>C (p.Pro1073=) c.3120T>C (p.Pro1040=) c.3534T>C (p.Pro1178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764166A>T | CA493692947 | GRIN2A | c.3378T>A (p.Pro1126=) c.2907T>A (p.Pro969=) n.2971T>A c.*748T>A (n.*748T>A) c.2967T>A (p.Pro989=) n.3017T>A c.3219T>A (p.Pro1073=) c.3120T>A (p.Pro1040=) c.3534T>A (p.Pro1178=) | dbSNP |
16 | g.9764167G>A | CA394708001 | GRIN2A | c.3377C>T (p.Pro1126Leu) c.2906C>T (p.Pro969Leu) n.2970C>T c.*747C>T (n.*747C>T) c.2966C>T (p.Pro989Leu) n.3016C>T c.3218C>T (p.Pro1073Leu) c.3119C>T (p.Pro1040Leu) c.3533C>T (p.Pro1178Leu) | ClinVar dbSNP |
16 | g.9764167G>C | CA394708000 | GRIN2A | c.3377C>G (p.Pro1126Arg) c.2906C>G (p.Pro969Arg) n.2970C>G c.*747C>G (n.*747C>G) c.2966C>G (p.Pro989Arg) n.3016C>G c.3218C>G (p.Pro1073Arg) c.3119C>G (p.Pro1040Arg) c.3533C>G (p.Pro1178Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764167G= | CA2206693083 | GRIN2A | c.3377C= (p.Pro1126=) c.2906C= (p.Pro969=) n.2970C= c.*747C= (n.*747C=) c.2966C= (p.Pro989=) n.3016C= c.3218C= (p.Pro1073=) c.3119C= (p.Pro1040=) c.3533C= (p.Pro1178=) | |
16 | g.9764167G>T | CA394707999 | GRIN2A | c.3377C>A (p.Pro1126His) c.2906C>A (p.Pro969His) n.2970C>A c.*747C>A (n.*747C>A) c.2966C>A (p.Pro989His) n.3016C>A c.3218C>A (p.Pro1073His) c.3119C>A (p.Pro1040His) c.3533C>A (p.Pro1178His) | |
16 | g.9764168G>A | CA394708003 | GRIN2A | c.3376C>T (p.Pro1126Ser) c.2905C>T (p.Pro969Ser) n.2969C>T c.*746C>T (n.*746C>T) c.2965C>T (p.Pro989Ser) n.3015C>T c.3217C>T (p.Pro1073Ser) c.3118C>T (p.Pro1040Ser) c.3532C>T (p.Pro1178Ser) | dbSNP |
16 | g.9764168G>C | CA394708002 | GRIN2A | c.3376C>G (p.Pro1126Ala) c.2905C>G (p.Pro969Ala) n.2969C>G c.*746C>G (n.*746C>G) c.2965C>G (p.Pro989Ala) n.3015C>G c.3217C>G (p.Pro1073Ala) c.3118C>G (p.Pro1040Ala) c.3532C>G (p.Pro1178Ala) | dbSNP gnomAD v4 |
16 | g.9764168G= | CA2206693084 | GRIN2A | c.3376C= (p.Pro1126=) c.2905C= (p.Pro969=) n.2969C= c.*746C= (n.*746C=) c.2965C= (p.Pro989=) n.3015C= c.3217C= (p.Pro1073=) c.3118C= (p.Pro1040=) c.3532C= (p.Pro1178=) | |
16 | g.9764168G>T | CA7896327 | GRIN2A | c.3376C>A (p.Pro1126Thr) c.2905C>A (p.Pro969Thr) n.2969C>A c.*746C>A (n.*746C>A) c.2965C>A (p.Pro989Thr) n.3015C>A c.3217C>A (p.Pro1073Thr) c.3118C>A (p.Pro1040Thr) c.3532C>A (p.Pro1178Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764169C>A | CA394708004 | GRIN2A | c.3375G>T (p.Glu1125Asp) c.2904G>T (p.Glu968Asp) n.2968G>T c.*745G>T (n.*745G>T) c.2964G>T (p.Glu988Asp) n.3014G>T c.3216G>T (p.Glu1072Asp) c.3117G>T (p.Glu1039Asp) c.3531G>T (p.Glu1177Asp) | dbSNP |
16 | g.9764169C= | CA2206693085 | GRIN2A | c.3375G= (p.Glu1125=) c.2904G= (p.Glu968=) n.2968G= c.*745G= (n.*745G=) c.2964G= (p.Glu988=) n.3014G= c.3216G= (p.Glu1072=) c.3117G= (p.Glu1039=) c.3531G= (p.Glu1177=) | |
16 | g.9764169C>G | CA394708005 | GRIN2A | c.3375G>C (p.Glu1125Asp) c.2904G>C (p.Glu968Asp) n.2968G>C c.*745G>C (n.*745G>C) c.2964G>C (p.Glu988Asp) n.3014G>C c.3216G>C (p.Glu1072Asp) c.3117G>C (p.Glu1039Asp) c.3531G>C (p.Glu1177Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.9764169C>T | CA493692948 | GRIN2A | c.3375G>A (p.Glu1125=) c.2904G>A (p.Glu968=) n.2968G>A c.*745G>A (n.*745G>A) c.2964G>A (p.Glu988=) n.3014G>A c.3216G>A (p.Glu1072=) c.3117G>A (p.Glu1039=) c.3531G>A (p.Glu1177=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764170T>A | CA394708006 | GRIN2A | c.3374A>T (p.Glu1125Val) c.2903A>T (p.Glu968Val) n.2967A>T c.*744A>T (n.*744A>T) c.2963A>T (p.Glu988Val) n.3013A>T c.3215A>T (p.Glu1072Val) c.3116A>T (p.Glu1039Val) c.3530A>T (p.Glu1177Val) | dbSNP |
16 | g.9764170T>C | CA394708008 | GRIN2A | c.3374A>G (p.Glu1125Gly) c.2903A>G (p.Glu968Gly) n.2967A>G c.*744A>G (n.*744A>G) c.2963A>G (p.Glu988Gly) n.3013A>G c.3215A>G (p.Glu1072Gly) c.3116A>G (p.Glu1039Gly) c.3530A>G (p.Glu1177Gly) | |
16 | g.9764170T>G | CA394708009 | GRIN2A | c.3374A>C (p.Glu1125Ala) c.2903A>C (p.Glu968Ala) n.2967A>C c.*744A>C (n.*744A>C) c.2963A>C (p.Glu988Ala) n.3013A>C c.3215A>C (p.Glu1072Ala) c.3116A>C (p.Glu1039Ala) c.3530A>C (p.Glu1177Ala) | |
16 | g.9764171C>A | CA394708010 | GRIN2A | c.3373G>T (p.Glu1125Ter) c.2902G>T (p.Glu968Ter) n.2966G>T c.*743G>T (n.*743G>T) c.2962G>T (p.Glu988Ter) n.3012G>T c.3214G>T (p.Glu1072Ter) c.3115G>T (p.Glu1039Ter) c.3529G>T (p.Glu1177Ter) | dbSNP COSMIC |
16 | g.9764171C= | CA2206693086 | GRIN2A | c.3373G= (p.Glu1125=) c.2902G= (p.Glu968=) n.2966G= c.*743G= (n.*743G=) c.2962G= (p.Glu988=) n.3012G= c.3214G= (p.Glu1072=) c.3115G= (p.Glu1039=) c.3529G= (p.Glu1177=) | |
16 | g.9764171C>G | CA394708011 | GRIN2A | c.3373G>C (p.Glu1125Gln) c.2902G>C (p.Glu968Gln) n.2966G>C c.*743G>C (n.*743G>C) c.2962G>C (p.Glu988Gln) n.3012G>C c.3214G>C (p.Glu1072Gln) c.3115G>C (p.Glu1039Gln) c.3529G>C (p.Glu1177Gln) | dbSNP |
16 | g.9764171C>T | CA394708012 | GRIN2A | c.3373G>A (p.Glu1125Lys) c.2902G>A (p.Glu968Lys) n.2966G>A c.*743G>A (n.*743G>A) c.2962G>A (p.Glu988Lys) n.3012G>A c.3214G>A (p.Glu1072Lys) c.3115G>A (p.Glu1039Lys) c.3529G>A (p.Glu1177Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764172C>A | CA394708013 | GRIN2A | c.3372G>T (p.Lys1124Asn) c.2901G>T (p.Lys967Asn) n.2965G>T c.*742G>T (n.*742G>T) c.2961G>T (p.Lys987Asn) n.3011G>T c.3213G>T (p.Lys1071Asn) c.3114G>T (p.Lys1038Asn) c.3528G>T (p.Lys1176Asn) | dbSNP COSMIC |
16 | g.9764172C= | CA2206693087 | GRIN2A | c.3372G= (p.Lys1124=) c.2901G= (p.Lys967=) n.2965G= c.*742G= (n.*742G=) c.2961G= (p.Lys987=) n.3011G= c.3213G= (p.Lys1071=) c.3114G= (p.Lys1038=) c.3528G= (p.Lys1176=) | |
16 | g.9764172C>G | CA394708014 | GRIN2A | c.3372G>C (p.Lys1124Asn) c.2901G>C (p.Lys967Asn) n.2965G>C c.*742G>C (n.*742G>C) c.2961G>C (p.Lys987Asn) n.3011G>C c.3213G>C (p.Lys1071Asn) c.3114G>C (p.Lys1038Asn) c.3528G>C (p.Lys1176Asn) | |
16 | g.9764172C>T | CA277537344 | GRIN2A | c.3372G>A (p.Lys1124=) c.2901G>A (p.Lys967=) n.2965G>A c.*742G>A (n.*742G>A) c.2961G>A (p.Lys987=) n.3011G>A c.3213G>A (p.Lys1071=) c.3114G>A (p.Lys1038=) c.3528G>A (p.Lys1176=) | dbSNP COSMIC |
16 | g.9764173T>A | CA394708016 | GRIN2A | c.3371A>T (p.Lys1124Met) c.2900A>T (p.Lys967Met) n.2964A>T c.*741A>T (n.*741A>T) c.2960A>T (p.Lys987Met) n.3010A>T c.3212A>T (p.Lys1071Met) c.3113A>T (p.Lys1038Met) c.3527A>T (p.Lys1176Met) | dbSNP |
16 | g.9764173T>C | CA394708017 | GRIN2A | c.3371A>G (p.Lys1124Arg) c.2900A>G (p.Lys967Arg) n.2964A>G c.*741A>G (n.*741A>G) c.2960A>G (p.Lys987Arg) n.3010A>G c.3212A>G (p.Lys1071Arg) c.3113A>G (p.Lys1038Arg) c.3527A>G (p.Lys1176Arg) | dbSNP |
16 | g.9764173T>G | CA394708015 | GRIN2A | c.3371A>C (p.Lys1124Thr) c.2900A>C (p.Lys967Thr) n.2964A>C c.*741A>C (n.*741A>C) c.2960A>C (p.Lys987Thr) n.3010A>C c.3212A>C (p.Lys1071Thr) c.3113A>C (p.Lys1038Thr) c.3527A>C (p.Lys1176Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764173T= | CA2206693088 | GRIN2A | c.3371A= (p.Lys1124=) c.2900A= (p.Lys967=) n.2964A= c.*741A= (n.*741A=) c.2960A= (p.Lys987=) n.3010A= c.3212A= (p.Lys1071=) c.3113A= (p.Lys1038=) c.3527A= (p.Lys1176=) | |
16 | g.9764174T>A | CA394708018 | GRIN2A | c.3370A>T (p.Lys1124Ter) c.2899A>T (p.Lys967Ter) n.2963A>T c.*740A>T (n.*740A>T) c.2959A>T (p.Lys987Ter) n.3009A>T c.3211A>T (p.Lys1071Ter) c.3112A>T (p.Lys1038Ter) c.3526A>T (p.Lys1176Ter) | dbSNP |
16 | g.9764174T>C | CA394708019 | GRIN2A | c.3370A>G (p.Lys1124Glu) c.2899A>G (p.Lys967Glu) n.2963A>G c.*740A>G (n.*740A>G) c.2959A>G (p.Lys987Glu) n.3009A>G c.3211A>G (p.Lys1071Glu) c.3112A>G (p.Lys1038Glu) c.3526A>G (p.Lys1176Glu) | |
16 | g.9764174T>G | CA394708020 | GRIN2A | c.3370A>C (p.Lys1124Gln) c.2899A>C (p.Lys967Gln) n.2963A>C c.*740A>C (n.*740A>C) c.2959A>C (p.Lys987Gln) n.3009A>C c.3211A>C (p.Lys1071Gln) c.3112A>C (p.Lys1038Gln) c.3526A>C (p.Lys1176Gln) | |
16 | g.9764174T= | CA2206693089 | GRIN2A | c.3370A= (p.Lys1124=) c.2899A= (p.Lys967=) n.2963A= c.*740A= (n.*740A=) c.2959A= (p.Lys987=) n.3009A= c.3211A= (p.Lys1071=) c.3112A= (p.Lys1038=) c.3526A= (p.Lys1176=) | |
16 | g.9764175C>A | CA394708021 | GRIN2A | c.3369G>T (p.Glu1123Asp) c.2898G>T (p.Glu966Asp) n.2962G>T c.*739G>T (n.*739G>T) c.2958G>T (p.Glu986Asp) n.3008G>T c.3210G>T (p.Glu1070Asp) c.3111G>T (p.Glu1037Asp) c.3525G>T (p.Glu1175Asp) | dbSNP |
16 | g.9764175C>G | CA394708022 | GRIN2A | c.3369G>C (p.Glu1123Asp) c.2898G>C (p.Glu966Asp) n.2962G>C c.*739G>C (n.*739G>C) c.2958G>C (p.Glu986Asp) n.3008G>C c.3210G>C (p.Glu1070Asp) c.3111G>C (p.Glu1037Asp) c.3525G>C (p.Glu1175Asp) | dbSNP gnomAD v4 |
16 | g.9764175C>T | CA493692959 | GRIN2A | c.3369G>A (p.Glu1123=) c.2898G>A (p.Glu966=) n.2962G>A c.*739G>A (n.*739G>A) c.2958G>A (p.Glu986=) n.3008G>A c.3210G>A (p.Glu1070=) c.3111G>A (p.Glu1037=) c.3525G>A (p.Glu1175=) | gnomAD v4 |
16 | g.9764176T>A | CA394708025 | GRIN2A | c.3368A>T (p.Glu1123Val) c.2897A>T (p.Glu966Val) n.2961A>T c.*738A>T (n.*738A>T) c.2957A>T (p.Glu986Val) n.3007A>T c.3209A>T (p.Glu1070Val) c.3110A>T (p.Glu1037Val) c.3524A>T (p.Glu1175Val) | dbSNP |
16 | g.9764176T>C | CA394708023 | GRIN2A | c.3368A>G (p.Glu1123Gly) c.2897A>G (p.Glu966Gly) n.2961A>G c.*738A>G (n.*738A>G) c.2957A>G (p.Glu986Gly) n.3007A>G c.3209A>G (p.Glu1070Gly) c.3110A>G (p.Glu1037Gly) c.3524A>G (p.Glu1175Gly) | dbSNP |
16 | g.9764176T>G | CA394708024 | GRIN2A | c.3368A>C (p.Glu1123Ala) c.2897A>C (p.Glu966Ala) n.2961A>C c.*738A>C (n.*738A>C) c.2957A>C (p.Glu986Ala) n.3007A>C c.3209A>C (p.Glu1070Ala) c.3110A>C (p.Glu1037Ala) c.3524A>C (p.Glu1175Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764176T= | CA2206693090 | GRIN2A | c.3368A= (p.Glu1123=) c.2897A= (p.Glu966=) n.2961A= c.*738A= (n.*738A=) c.2957A= (p.Glu986=) n.3007A= c.3209A= (p.Glu1070=) c.3110A= (p.Glu1037=) c.3524A= (p.Glu1175=) | |
16 | g.9764177C>A | CA394708026 | GRIN2A | c.3367G>T (p.Glu1123Ter) c.2896G>T (p.Glu966Ter) n.2960G>T c.*737G>T (n.*737G>T) c.2956G>T (p.Glu986Ter) n.3006G>T c.3208G>T (p.Glu1070Ter) c.3109G>T (p.Glu1037Ter) c.3523G>T (p.Glu1175Ter) | dbSNP COSMIC |
16 | g.9764177C= | CA2206693091 | GRIN2A | c.3367G= (p.Glu1123=) c.2896G= (p.Glu966=) n.2960G= c.*737G= (n.*737G=) c.2956G= (p.Glu986=) n.3006G= c.3208G= (p.Glu1070=) c.3109G= (p.Glu1037=) c.3523G= (p.Glu1175=) | |
16 | g.9764177C>G | CA394708027 | GRIN2A | c.3367G>C (p.Glu1123Gln) c.2896G>C (p.Glu966Gln) n.2960G>C c.*737G>C (n.*737G>C) c.2956G>C (p.Glu986Gln) n.3006G>C c.3208G>C (p.Glu1070Gln) c.3109G>C (p.Glu1037Gln) c.3523G>C (p.Glu1175Gln) | dbSNP |
16 | g.9764177C>T | CA7896328 | GRIN2A | c.3367G>A (p.Glu1123Lys) c.2896G>A (p.Glu966Lys) n.2960G>A c.*737G>A (n.*737G>A) c.2956G>A (p.Glu986Lys) n.3006G>A c.3208G>A (p.Glu1070Lys) c.3109G>A (p.Glu1037Lys) c.3523G>A (p.Glu1175Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764178A= | CA2206693092 | GRIN2A | c.3366T= (p.Gly1122=) c.2895T= (p.Gly965=) n.2959T= c.*736T= (n.*736T=) c.2955T= (p.Gly985=) n.3005T= c.3207T= (p.Gly1069=) c.3108T= (p.Gly1036=) c.3522T= (p.Gly1174=) | |
16 | g.9764178A>C | CA16615064 | GRIN2A | c.3366T>G (p.Gly1122=) c.2895T>G (p.Gly965=) n.2959T>G c.*736T>G (n.*736T>G) c.2955T>G (p.Gly985=) n.3005T>G c.3207T>G (p.Gly1069=) c.3108T>G (p.Gly1036=) c.3522T>G (p.Gly1174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9764178A>G | CA493692962 | GRIN2A | c.3366T>C (p.Gly1122=) c.2895T>C (p.Gly965=) n.2959T>C c.*736T>C (n.*736T>C) c.2955T>C (p.Gly985=) n.3005T>C c.3207T>C (p.Gly1069=) c.3108T>C (p.Gly1036=) c.3522T>C (p.Gly1174=) | |
16 | g.9764178A>T | CA493692963 | GRIN2A | c.3366T>A (p.Gly1122=) c.2895T>A (p.Gly965=) n.2959T>A c.*736T>A (n.*736T>A) c.2955T>A (p.Gly985=) n.3005T>A c.3207T>A (p.Gly1069=) c.3108T>A (p.Gly1036=) c.3522T>A (p.Gly1174=) | |
16 | g.9764179C>A | CA7896329 | GRIN2A | c.3365G>T (p.Gly1122Val) c.2894G>T (p.Gly965Val) n.2958G>T c.*735G>T (n.*735G>T) c.2954G>T (p.Gly985Val) n.3004G>T c.3206G>T (p.Gly1069Val) c.3107G>T (p.Gly1036Val) c.3521G>T (p.Gly1174Val) | dbSNP ExAC gnomAD v2 |
16 | g.9764179C= | CA2206693093 | GRIN2A | c.3365G= (p.Gly1122=) c.2894G= (p.Gly965=) n.2958G= c.*735G= (n.*735G=) c.2954G= (p.Gly985=) n.3004G= c.3206G= (p.Gly1069=) c.3107G= (p.Gly1036=) c.3521G= (p.Gly1174=) | |
16 | g.9764179C>G | CA394708028 | GRIN2A | c.3365G>C (p.Gly1122Ala) c.2894G>C (p.Gly965Ala) n.2958G>C c.*735G>C (n.*735G>C) c.2954G>C (p.Gly985Ala) n.3004G>C c.3206G>C (p.Gly1069Ala) c.3107G>C (p.Gly1036Ala) c.3521G>C (p.Gly1174Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.9764179C>T | CA314978 | GRIN2A | c.3365G>A (p.Gly1122Asp) c.2894G>A (p.Gly965Asp) n.2958G>A c.*735G>A (n.*735G>A) c.2954G>A (p.Gly985Asp) n.3004G>A c.3206G>A (p.Gly1069Asp) c.3107G>A (p.Gly1036Asp) c.3521G>A (p.Gly1174Asp) | ClinVar dbSNP |
16 | g.9764180C>A | CA394708030 | GRIN2A | c.3364G>T (p.Gly1122Cys) c.2893G>T (p.Gly965Cys) n.2957G>T c.*734G>T (n.*734G>T) c.2953G>T (p.Gly985Cys) n.3003G>T c.3205G>T (p.Gly1069Cys) c.3106G>T (p.Gly1036Cys) c.3520G>T (p.Gly1174Cys) | dbSNP |
16 | g.9764180C>G | CA394708031 | GRIN2A | c.3364G>C (p.Gly1122Arg) c.2893G>C (p.Gly965Arg) n.2957G>C c.*734G>C (n.*734G>C) c.2953G>C (p.Gly985Arg) n.3003G>C c.3205G>C (p.Gly1069Arg) c.3106G>C (p.Gly1036Arg) c.3520G>C (p.Gly1174Arg) | dbSNP |
16 | g.9764180C>T | CA394708029 | GRIN2A | c.3364G>A (p.Gly1122Ser) c.2893G>A (p.Gly965Ser) n.2957G>A c.*734G>A (n.*734G>A) c.2953G>A (p.Gly985Ser) n.3003G>A c.3205G>A (p.Gly1069Ser) c.3106G>A (p.Gly1036Ser) c.3520G>A (p.Gly1174Ser) | |
16 | g.9764181A= | CA2206693094 | GRIN2A | c.3363T= (p.Asp1121=) c.2892T= (p.Asp964=) n.2956T= c.*733T= (n.*733T=) c.2952T= (p.Asp984=) n.3002T= c.3204T= (p.Asp1068=) c.3105T= (p.Asp1035=) c.3519T= (p.Asp1173=) | |
16 | g.9764181A>C | CA314976 | GRIN2A | c.3363T>G (p.Asp1121Glu) c.2892T>G (p.Asp964Glu) n.2956T>G c.*733T>G (n.*733T>G) c.2952T>G (p.Asp984Glu) n.3002T>G c.3204T>G (p.Asp1068Glu) c.3105T>G (p.Asp1035Glu) c.3519T>G (p.Asp1173Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764181A>G | CA493692968 | GRIN2A | c.3363T>C (p.Asp1121=) c.2892T>C (p.Asp964=) n.2956T>C c.*733T>C (n.*733T>C) c.2952T>C (p.Asp984=) n.3002T>C c.3204T>C (p.Asp1068=) c.3105T>C (p.Asp1035=) c.3519T>C (p.Asp1173=) | ClinVar |
16 | g.9764181A>T | CA394708032 | GRIN2A | c.3363T>A (p.Asp1121Glu) c.2892T>A (p.Asp964Glu) n.2956T>A c.*733T>A (n.*733T>A) c.2952T>A (p.Asp984Glu) n.3002T>A c.3204T>A (p.Asp1068Glu) c.3105T>A (p.Asp1035Glu) c.3519T>A (p.Asp1173Glu) | dbSNP |
16 | g.9764182T>A | CA394708033 | GRIN2A | c.3362A>T (p.Asp1121Val) c.2891A>T (p.Asp964Val) n.2955A>T c.*732A>T (n.*732A>T) c.2951A>T (p.Asp984Val) n.3001A>T c.3203A>T (p.Asp1068Val) c.3104A>T (p.Asp1035Val) c.3518A>T (p.Asp1173Val) | dbSNP |
16 | g.9764182T>C | CA7896330 | GRIN2A | c.3362A>G (p.Asp1121Gly) c.2891A>G (p.Asp964Gly) n.2955A>G c.*732A>G (n.*732A>G) c.2951A>G (p.Asp984Gly) n.3001A>G c.3203A>G (p.Asp1068Gly) c.3104A>G (p.Asp1035Gly) c.3518A>G (p.Asp1173Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764182T>G | CA394708034 | GRIN2A | c.3362A>C (p.Asp1121Ala) c.2891A>C (p.Asp964Ala) n.2955A>C c.*732A>C (n.*732A>C) c.2951A>C (p.Asp984Ala) n.3001A>C c.3203A>C (p.Asp1068Ala) c.3104A>C (p.Asp1035Ala) c.3518A>C (p.Asp1173Ala) | gnomAD v3 gnomAD v4 |
16 | g.9764182T= | CA2206693095 | GRIN2A | c.3362A= (p.Asp1121=) c.2891A= (p.Asp964=) n.2955A= c.*732A= (n.*732A=) c.2951A= (p.Asp984=) n.3001A= c.3203A= (p.Asp1068=) c.3104A= (p.Asp1035=) c.3518A= (p.Asp1173=) | |
16 | g.9764183C>A | CA7896331 | GRIN2A | c.3361G>T (p.Asp1121Tyr) c.2890G>T (p.Asp964Tyr) n.2954G>T c.*731G>T (n.*731G>T) c.2950G>T (p.Asp984Tyr) n.3000G>T c.3202G>T (p.Asp1068Tyr) c.3103G>T (p.Asp1035Tyr) c.3517G>T (p.Asp1173Tyr) | dbSNP ExAC gnomAD v2 |
16 | g.9764183C= | CA2206693096 | GRIN2A | c.3361G= (p.Asp1121=) c.2890G= (p.Asp964=) n.2954G= c.*731G= (n.*731G=) c.2950G= (p.Asp984=) n.3000G= c.3202G= (p.Asp1068=) c.3103G= (p.Asp1035=) c.3517G= (p.Asp1173=) | |
16 | g.9764183C>G | CA394708035 | GRIN2A | c.3361G>C (p.Asp1121His) c.2890G>C (p.Asp964His) n.2954G>C c.*731G>C (n.*731G>C) c.2950G>C (p.Asp984His) n.3000G>C c.3202G>C (p.Asp1068His) c.3103G>C (p.Asp1035His) c.3517G>C (p.Asp1173His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.9764183C>T | CA394708036 | GRIN2A | c.3361G>A (p.Asp1121Asn) c.2890G>A (p.Asp964Asn) n.2954G>A c.*731G>A (n.*731G>A) c.2950G>A (p.Asp984Asn) n.3000G>A c.3202G>A (p.Asp1068Asn) c.3103G>A (p.Asp1035Asn) c.3517G>A (p.Asp1173Asn) | dbSNP COSMIC |
16 | g.9764184T>A | CA493692972 | GRIN2A | c.3360A>T (p.Ile1120=) c.2889A>T (p.Ile963=) n.2953A>T c.*730A>T (n.*730A>T) c.2949A>T (p.Ile983=) n.2999A>T c.3201A>T (p.Ile1067=) c.3102A>T (p.Ile1034=) c.3516A>T (p.Ile1172=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764184T>C | CA394708037 | GRIN2A | c.3360A>G (p.Ile1120Met) c.2889A>G (p.Ile963Met) n.2953A>G c.*730A>G (n.*730A>G) c.2949A>G (p.Ile983Met) n.2999A>G c.3201A>G (p.Ile1067Met) c.3102A>G (p.Ile1034Met) c.3516A>G (p.Ile1172Met) | |
16 | g.9764184T>G | CA493692973 | GRIN2A | c.3360A>C (p.Ile1120=) c.2889A>C (p.Ile963=) n.2953A>C c.*730A>C (n.*730A>C) c.2949A>C (p.Ile983=) n.2999A>C c.3201A>C (p.Ile1067=) c.3102A>C (p.Ile1034=) c.3516A>C (p.Ile1172=) | |
16 | g.9764185A>C | CA394708038 | GRIN2A | c.3359T>G (p.Ile1120Arg) c.2888T>G (p.Ile963Arg) n.2952T>G c.*729T>G (n.*729T>G) c.2948T>G (p.Ile983Arg) n.2998T>G c.3200T>G (p.Ile1067Arg) c.3101T>G (p.Ile1034Arg) c.3515T>G (p.Ile1172Arg) | ClinVar dbSNP |
16 | g.9764185A>G | CA394708039 | GRIN2A | c.3359T>C (p.Ile1120Thr) c.2888T>C (p.Ile963Thr) n.2952T>C c.*729T>C (n.*729T>C) c.2948T>C (p.Ile983Thr) n.2998T>C c.3200T>C (p.Ile1067Thr) c.3101T>C (p.Ile1034Thr) c.3515T>C (p.Ile1172Thr) | |
16 | g.9764185A>T | CA394708040 | GRIN2A | c.3359T>A (p.Ile1120Lys) c.2888T>A (p.Ile963Lys) n.2952T>A c.*729T>A (n.*729T>A) c.2948T>A (p.Ile983Lys) n.2998T>A c.3200T>A (p.Ile1067Lys) c.3101T>A (p.Ile1034Lys) c.3515T>A (p.Ile1172Lys) | dbSNP |
16 | g.9764185_9764186insCACC | CA2573152117 | GRIN2A | c.3358_3359insGGTG (p.Ile1120ArgfsTer5) c.2887_2888insGGTG (p.Ile963ArgfsTer5) n.2951_2952insGGTG c.*728_*729insGGTG (n.*728_*729insGGTG) c.2947_2948insGGTG (p.Ile983ArgfsTer5) n.2997_2998insGGTG c.3199_3200insGGTG (p.Ile1067ArgfsTer5) c.3100_3101insGGTG (p.Ile1034ArgfsTer5) c.3514_3515insGGTG (p.Ile1172ArgfsTer5) | dbSNP gnomAD v4 |
16 | g.9764186T>A | CA394708041 | GRIN2A | c.3358A>T (p.Ile1120Leu) c.2887A>T (p.Ile963Leu) n.2951A>T c.*728A>T (n.*728A>T) c.2947A>T (p.Ile983Leu) n.2997A>T c.3199A>T (p.Ile1067Leu) c.3100A>T (p.Ile1034Leu) c.3514A>T (p.Ile1172Leu) | dbSNP gnomAD v4 |
16 | g.9764186T>C | CA394708042 | GRIN2A | c.3358A>G (p.Ile1120Val) c.2887A>G (p.Ile963Val) n.2951A>G c.*728A>G (n.*728A>G) c.2947A>G (p.Ile983Val) n.2997A>G c.3199A>G (p.Ile1067Val) c.3100A>G (p.Ile1034Val) c.3514A>G (p.Ile1172Val) | dbSNP gnomAD v4 |
16 | g.9764186T>G | CA394708043 | GRIN2A | c.3358A>C (p.Ile1120Leu) c.2887A>C (p.Ile963Leu) n.2951A>C c.*728A>C (n.*728A>C) c.2947A>C (p.Ile983Leu) n.2997A>C c.3199A>C (p.Ile1067Leu) c.3100A>C (p.Ile1034Leu) c.3514A>C (p.Ile1172Leu) | |
16 | g.9764187A= | CA2206693097 | GRIN2A | c.3357T= (p.Thr1119=) c.2886T= (p.Thr962=) n.2950T= c.*727T= (n.*727T=) c.2946T= (p.Thr982=) n.2996T= c.3198T= (p.Thr1066=) c.3099T= (p.Thr1033=) c.3513T= (p.Thr1171=) | |
16 | g.9764187A>C | CA493692974 | GRIN2A | c.3357T>G (p.Thr1119=) c.2886T>G (p.Thr962=) n.2950T>G c.*727T>G (n.*727T>G) c.2946T>G (p.Thr982=) n.2996T>G c.3198T>G (p.Thr1066=) c.3099T>G (p.Thr1033=) c.3513T>G (p.Thr1171=) | |
16 | g.9764187A>G | CA493692975 | GRIN2A | c.3357T>C (p.Thr1119=) c.2886T>C (p.Thr962=) n.2950T>C c.*727T>C (n.*727T>C) c.2946T>C (p.Thr982=) n.2996T>C c.3198T>C (p.Thr1066=) c.3099T>C (p.Thr1033=) c.3513T>C (p.Thr1171=) | ClinVar dbSNP |
16 | g.9764187A>T | CA493692976 | GRIN2A | c.3357T>A (p.Thr1119=) c.2886T>A (p.Thr962=) n.2950T>A c.*727T>A (n.*727T>A) c.2946T>A (p.Thr982=) n.2996T>A c.3198T>A (p.Thr1066=) c.3099T>A (p.Thr1033=) c.3513T>A (p.Thr1171=) | dbSNP |
16 | g.9764188G>A | CA394708044 | GRIN2A | c.3356C>T (p.Thr1119Ile) c.2885C>T (p.Thr962Ile) n.2949C>T c.*726C>T (n.*726C>T) c.2945C>T (p.Thr982Ile) n.2995C>T c.3197C>T (p.Thr1066Ile) c.3098C>T (p.Thr1033Ile) c.3512C>T (p.Thr1171Ile) | dbSNP gnomAD v4 |
16 | g.9764188G>C | CA394708046 | GRIN2A | c.3356C>G (p.Thr1119Ser) c.2885C>G (p.Thr962Ser) n.2949C>G c.*726C>G (n.*726C>G) c.2945C>G (p.Thr982Ser) n.2995C>G c.3197C>G (p.Thr1066Ser) c.3098C>G (p.Thr1033Ser) c.3512C>G (p.Thr1171Ser) | dbSNP |
16 | g.9764188G>T | CA394708045 | GRIN2A | c.3356C>A (p.Thr1119Asn) c.2885C>A (p.Thr962Asn) n.2949C>A c.*726C>A (n.*726C>A) c.2945C>A (p.Thr982Asn) n.2995C>A c.3197C>A (p.Thr1066Asn) c.3098C>A (p.Thr1033Asn) c.3512C>A (p.Thr1171Asn) | COSMIC |
16 | g.9764189T>A | CA394708047 | GRIN2A | c.3355A>T (p.Thr1119Ser) c.2884A>T (p.Thr962Ser) n.2948A>T c.*725A>T (n.*725A>T) c.2944A>T (p.Thr982Ser) n.2994A>T c.3196A>T (p.Thr1066Ser) c.3097A>T (p.Thr1033Ser) c.3511A>T (p.Thr1171Ser) | dbSNP gnomAD v4 |
16 | g.9764189T>C | CA394708048 | GRIN2A | c.3355A>G (p.Thr1119Ala) c.2884A>G (p.Thr962Ala) n.2948A>G c.*725A>G (n.*725A>G) c.2944A>G (p.Thr982Ala) n.2994A>G c.3196A>G (p.Thr1066Ala) c.3097A>G (p.Thr1033Ala) c.3511A>G (p.Thr1171Ala) | |
16 | g.9764189T>G | CA394708049 | GRIN2A | c.3355A>C (p.Thr1119Pro) c.2884A>C (p.Thr962Pro) n.2948A>C c.*725A>C (n.*725A>C) c.2944A>C (p.Thr982Pro) n.2994A>C c.3196A>C (p.Thr1066Pro) c.3097A>C (p.Thr1033Pro) c.3511A>C (p.Thr1171Pro) | COSMIC |
16 | g.9764190G>A | CA493692978 | GRIN2A | c.3354C>T (p.Tyr1118=) c.2883C>T (p.Tyr961=) n.2947C>T c.*724C>T (n.*724C>T) c.2943C>T (p.Tyr981=) n.2993C>T c.3195C>T (p.Tyr1065=) c.3096C>T (p.Tyr1032=) c.3510C>T (p.Tyr1170=) | dbSNP |
16 | g.9764190G>C | CA394708050 | GRIN2A | c.3354C>G (p.Tyr1118Ter) c.2883C>G (p.Tyr961Ter) n.2947C>G c.*724C>G (n.*724C>G) c.2943C>G (p.Tyr981Ter) n.2993C>G c.3195C>G (p.Tyr1065Ter) c.3096C>G (p.Tyr1032Ter) c.3510C>G (p.Tyr1170Ter) | dbSNP |
16 | g.9764190G>T | CA394708051 | GRIN2A | c.3354C>A (p.Tyr1118Ter) c.2883C>A (p.Tyr961Ter) n.2947C>A c.*724C>A (n.*724C>A) c.2943C>A (p.Tyr981Ter) n.2993C>A c.3195C>A (p.Tyr1065Ter) c.3096C>A (p.Tyr1032Ter) c.3510C>A (p.Tyr1170Ter) | |
16 | g.9764191T>A | CA394708052 | GRIN2A | c.3353A>T (p.Tyr1118Phe) c.2882A>T (p.Tyr961Phe) n.2946A>T c.*723A>T (n.*723A>T) c.2942A>T (p.Tyr981Phe) n.2992A>T c.3194A>T (p.Tyr1065Phe) c.3095A>T (p.Tyr1032Phe) c.3509A>T (p.Tyr1170Phe) | dbSNP |
16 | g.9764191T>C | CA394708053 | GRIN2A | c.3353A>G (p.Tyr1118Cys) c.2882A>G (p.Tyr961Cys) n.2946A>G c.*723A>G (n.*723A>G) c.2942A>G (p.Tyr981Cys) n.2992A>G c.3194A>G (p.Tyr1065Cys) c.3095A>G (p.Tyr1032Cys) c.3509A>G (p.Tyr1170Cys) | |
16 | g.9764191T>G | CA394708054 | GRIN2A | c.3353A>C (p.Tyr1118Ser) c.2882A>C (p.Tyr961Ser) n.2946A>C c.*723A>C (n.*723A>C) c.2942A>C (p.Tyr981Ser) n.2992A>C c.3194A>C (p.Tyr1065Ser) c.3095A>C (p.Tyr1032Ser) c.3509A>C (p.Tyr1170Ser) | |
16 | g.9764192A>C | CA394708055 | GRIN2A | c.3352T>G (p.Tyr1118Asp) c.2881T>G (p.Tyr961Asp) n.2945T>G c.*722T>G (n.*722T>G) c.2941T>G (p.Tyr981Asp) n.2991T>G c.3193T>G (p.Tyr1065Asp) c.3094T>G (p.Tyr1032Asp) c.3508T>G (p.Tyr1170Asp) | |
16 | g.9764192A>G | CA394708056 | GRIN2A | c.3352T>C (p.Tyr1118His) c.2881T>C (p.Tyr961His) n.2945T>C c.*722T>C (n.*722T>C) c.2941T>C (p.Tyr981His) n.2991T>C c.3193T>C (p.Tyr1065His) c.3094T>C (p.Tyr1032His) c.3508T>C (p.Tyr1170His) | |
16 | g.9764192A>T | CA394708057 | GRIN2A | c.3352T>A (p.Tyr1118Asn) c.2881T>A (p.Tyr961Asn) n.2945T>A c.*722T>A (n.*722T>A) c.2941T>A (p.Tyr981Asn) n.2991T>A c.3193T>A (p.Tyr1065Asn) c.3094T>A (p.Tyr1032Asn) c.3508T>A (p.Tyr1170Asn) | dbSNP |
16 | g.9764193G>A | CA493692981 | GRIN2A | c.3351C>T (p.Ile1117=) c.2880C>T (p.Ile960=) n.2944C>T c.*721C>T (n.*721C>T) c.2940C>T (p.Ile980=) n.2990C>T c.3192C>T (p.Ile1064=) c.3093C>T (p.Ile1031=) c.3507C>T (p.Ile1169=) | dbSNP gnomAD v4 |
16 | g.9764193G>C | CA394708058 | GRIN2A | c.3351C>G (p.Ile1117Met) c.2880C>G (p.Ile960Met) n.2944C>G c.*721C>G (n.*721C>G) c.2940C>G (p.Ile980Met) n.2990C>G c.3192C>G (p.Ile1064Met) c.3093C>G (p.Ile1031Met) c.3507C>G (p.Ile1169Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764193G= | CA2206693098 | GRIN2A | c.3351C= (p.Ile1117=) c.2880C= (p.Ile960=) n.2944C= c.*721C= (n.*721C=) c.2940C= (p.Ile980=) n.2990C= c.3192C= (p.Ile1064=) c.3093C= (p.Ile1031=) c.3507C= (p.Ile1169=) | |
16 | g.9764193G>T | CA493692980 | GRIN2A | c.3351C>A (p.Ile1117=) c.2880C>A (p.Ile960=) n.2944C>A c.*721C>A (n.*721C>A) c.2940C>A (p.Ile980=) n.2990C>A c.3192C>A (p.Ile1064=) c.3093C>A (p.Ile1031=) c.3507C>A (p.Ile1169=) | dbSNP |
16 | g.9764194A>C | CA394708059 | GRIN2A | c.3350T>G (p.Ile1117Ser) c.2879T>G (p.Ile960Ser) n.2943T>G c.*720T>G (n.*720T>G) c.2939T>G (p.Ile980Ser) n.2989T>G c.3191T>G (p.Ile1064Ser) c.3092T>G (p.Ile1031Ser) c.3506T>G (p.Ile1169Ser) | dbSNP |
16 | g.9764194A>G | CA394708061 | GRIN2A | c.3350T>C (p.Ile1117Thr) c.2879T>C (p.Ile960Thr) n.2943T>C c.*720T>C (n.*720T>C) c.2939T>C (p.Ile980Thr) n.2989T>C c.3191T>C (p.Ile1064Thr) c.3092T>C (p.Ile1031Thr) c.3506T>C (p.Ile1169Thr) | |
16 | g.9764194A>T | CA394708060 | GRIN2A | c.3350T>A (p.Ile1117Asn) c.2879T>A (p.Ile960Asn) n.2943T>A c.*720T>A (n.*720T>A) c.2939T>A (p.Ile980Asn) n.2989T>A c.3191T>A (p.Ile1064Asn) c.3092T>A (p.Ile1031Asn) c.3506T>A (p.Ile1169Asn) | dbSNP |
16 | g.9764195T>A | CA394708063 | GRIN2A | c.3349A>T (p.Ile1117Phe) c.2878A>T (p.Ile960Phe) n.2942A>T c.*719A>T (n.*719A>T) c.2938A>T (p.Ile980Phe) n.2988A>T c.3190A>T (p.Ile1064Phe) c.3091A>T (p.Ile1031Phe) c.3505A>T (p.Ile1169Phe) | ClinVar dbSNP |
16 | g.9764195T>C | CA394708064 | GRIN2A | c.3349A>G (p.Ile1117Val) c.2878A>G (p.Ile960Val) n.2942A>G c.*719A>G (n.*719A>G) c.2938A>G (p.Ile980Val) n.2988A>G c.3190A>G (p.Ile1064Val) c.3091A>G (p.Ile1031Val) c.3505A>G (p.Ile1169Val) | |
16 | g.9764195T>G | CA394708065 | GRIN2A | c.3349A>C (p.Ile1117Leu) c.2878A>C (p.Ile960Leu) n.2942A>C c.*719A>C (n.*719A>C) c.2938A>C (p.Ile980Leu) n.2988A>C c.3190A>C (p.Ile1064Leu) c.3091A>C (p.Ile1031Leu) c.3505A>C (p.Ile1169Leu) | dbSNP |
16 | g.9764198_9764204del | CA974532105 | GRIN2A | c.3343_3349del (p.Asp1115SerfsTer4) c.2872_2878del (p.Asp958SerfsTer4) n.2936_2942del c.*713_*719del (n.*713_*719del) c.2932_2938del (p.Asp978SerfsTer4) n.2982_2988del c.3184_3190del (p.Asp1062SerfsTer4) c.3085_3091del (p.Asp1029SerfsTer4) c.3499_3505del (p.Asp1167SerfsTer4) | gnomAD v3 gnomAD v4 |
16 | g.9764196C>A | CA394708066 | GRIN2A | c.3348G>T (p.Lys1116Asn) c.2877G>T (p.Lys959Asn) n.2941G>T c.*718G>T (n.*718G>T) c.2937G>T (p.Lys979Asn) n.2987G>T c.3189G>T (p.Lys1063Asn) c.3090G>T (p.Lys1030Asn) c.3504G>T (p.Lys1168Asn) | dbSNP gnomAD v4 COSMIC |
16 | g.9764196C= | CA2206693099 | GRIN2A | c.3348G= (p.Lys1116=) c.2877G= (p.Lys959=) n.2941G= c.*718G= (n.*718G=) c.2937G= (p.Lys979=) n.2987G= c.3189G= (p.Lys1063=) c.3090G= (p.Lys1030=) c.3504G= (p.Lys1168=) | |
16 | g.9764196C>G | CA394708067 | GRIN2A | c.3348G>C (p.Lys1116Asn) c.2877G>C (p.Lys959Asn) n.2941G>C c.*718G>C (n.*718G>C) c.2937G>C (p.Lys979Asn) n.2987G>C c.3189G>C (p.Lys1063Asn) c.3090G>C (p.Lys1030Asn) c.3504G>C (p.Lys1168Asn) | dbSNP |
16 | g.9764196C>T | CA7896332 | GRIN2A | c.3348G>A (p.Lys1116=) c.2877G>A (p.Lys959=) n.2941G>A c.*718G>A (n.*718G>A) c.2937G>A (p.Lys979=) n.2987G>A c.3189G>A (p.Lys1063=) c.3090G>A (p.Lys1030=) c.3504G>A (p.Lys1168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764196_9764199delinsCTTG | CA2206693100 | GRIN2A | c.3345_3348delinsCAAG (p.Asp1115=) c.2874_2877delinsCAAG (p.Asp958=) n.2938_2941delinsCAAG c.*715_*718delinsCAAG (n.*715_*718delinsCAAG) c.2934_2937delinsCAAG (p.Asp978=) n.2984_2987delinsCAAG c.3186_3189delinsCAAG (p.Asp1062=) c.3087_3090delinsCAAG (p.Asp1029=) c.3501_3504delinsCAAG (p.Asp1167=) | |
16 | g.9764196_9764197insACGG | CA974532112 | GRIN2A | c.3347_3348insCCGT (p.Lys1116AsnfsTer9) c.2876_2877insCCGT (p.Lys959AsnfsTer9) n.2940_2941insCCGT c.*717_*718insCCGT (n.*717_*718insCCGT) c.2936_2937insCCGT (p.Lys979AsnfsTer9) n.2986_2987insCCGT c.3188_3189insCCGT (p.Lys1063AsnfsTer9) c.3089_3090insCCGT (p.Lys1030AsnfsTer9) c.3503_3504insCCGT (p.Lys1168AsnfsTer9) | |
16 | g.9764197T>A | CA394708070 | GRIN2A | c.3347A>T (p.Lys1116Met) c.2876A>T (p.Lys959Met) n.2940A>T c.*717A>T (n.*717A>T) c.2936A>T (p.Lys979Met) n.2986A>T c.3188A>T (p.Lys1063Met) c.3089A>T (p.Lys1030Met) c.3503A>T (p.Lys1168Met) | dbSNP |
16 | g.9764197T>C | CA394708068 | GRIN2A | c.3347A>G (p.Lys1116Arg) c.2876A>G (p.Lys959Arg) n.2940A>G c.*717A>G (n.*717A>G) c.2936A>G (p.Lys979Arg) n.2986A>G c.3188A>G (p.Lys1063Arg) c.3089A>G (p.Lys1030Arg) c.3503A>G (p.Lys1168Arg) | COSMIC |
16 | g.9764197T>G | CA394708069 | GRIN2A | c.3347A>C (p.Lys1116Thr) c.2876A>C (p.Lys959Thr) n.2940A>C c.*717A>C (n.*717A>C) c.2936A>C (p.Lys979Thr) n.2986A>C c.3188A>C (p.Lys1063Thr) c.3089A>C (p.Lys1030Thr) c.3503A>C (p.Lys1168Thr) | gnomAD v4 COSMIC |
16 | g.9764197T= | CA2206693101 | GRIN2A | c.3347A= (p.Lys1116=) c.2876A= (p.Lys959=) n.2940A= c.*717A= (n.*717A=) c.2936A= (p.Lys979=) n.2986A= c.3188A= (p.Lys1063=) c.3089A= (p.Lys1030=) c.3503A= (p.Lys1168=) | |
16 | g.9764197_9764198insCGGT | CA974532113 | GRIN2A | c.3347_3348insCCGA (p.Lys1116AsnfsTer9) c.2876_2877insCCGA (p.Lys959AsnfsTer9) n.2940_2941insCCGA c.*717_*718insCCGA (n.*717_*718insCCGA) c.2936_2937insCCGA (p.Lys979AsnfsTer9) n.2986_2987insCCGA c.3188_3189insCCGA (p.Lys1063AsnfsTer9) c.3089_3090insCCGA (p.Lys1030AsnfsTer9) c.3503_3504insCCGA (p.Lys1168AsnfsTer9) | gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCGTT | CA974532117 | GRIN2A | c.3347_3348insACGA (p.Ile1117ArgfsTer8) c.2876_2877insACGA (p.Ile960ArgfsTer8) n.2940_2941insACGA c.*717_*718insACGA (n.*717_*718insACGA) c.2936_2937insACGA (p.Ile980ArgfsTer8) n.2986_2987insACGA c.3188_3189insACGA (p.Ile1064ArgfsTer8) c.3089_3090insACGA (p.Ile1031ArgfsTer8) c.3503_3504insACGA (p.Ile1169ArgfsTer8) | gnomAD v3 gnomAD v4 |
16 | g.9764198_9764200del | CA621175127 | GRIN2A | c.3345_3347del (p.Asp1115_Lys1116delinsGlu) c.2874_2876del (p.Asp958_Lys959delinsGlu) n.2938_2940del c.*715_*717del (n.*715_*717del) c.2934_2936del (p.Asp978_Lys979delinsGlu) n.2984_2986del c.3186_3188del (p.Asp1062_Lys1063delinsGlu) c.3087_3089del (p.Asp1029_Lys1030delinsGlu) c.3501_3503del (p.Asp1167_Lys1168delinsGlu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCG | CA974532145 | GRIN2A | c.3346_3347insCG (p.Lys1116ThrfsTer6) c.2875_2876insCG (p.Lys959ThrfsTer6) n.2939_2940insCG c.*716_*717insCG (n.*716_*717insCG) c.2935_2936insCG (p.Lys979ThrfsTer6) n.2985_2986insCG c.3187_3188insCG (p.Lys1063ThrfsTer6) c.3088_3089insCG (p.Lys1030ThrfsTer6) c.3502_3503insCG (p.Lys1168ThrfsTer6) | gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCGA | CA974532146 | GRIN2A | c.3346_3347insTCG (p.Lys1116delinsIleGlu) c.2875_2876insTCG (p.Lys959delinsIleGlu) n.2939_2940insTCG c.*716_*717insTCG (n.*716_*717insTCG) c.2935_2936insTCG (p.Lys979delinsIleGlu) n.2985_2986insTCG c.3187_3188insTCG (p.Lys1063delinsIleGlu) c.3088_3089insTCG (p.Lys1030delinsIleGlu) c.3502_3503insTCG (p.Lys1168delinsIleGlu) | gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCGG | CA621175128 | GRIN2A | c.3346_3347insCCG (p.Lys1116delinsThrGlu) c.2875_2876insCCG (p.Lys959delinsThrGlu) n.2939_2940insCCG c.*716_*717insCCG (n.*716_*717insCCG) c.2935_2936insCCG (p.Lys979delinsThrGlu) n.2985_2986insCCG c.3187_3188insCCG (p.Lys1063delinsThrGlu) c.3088_3089insCCG (p.Lys1030delinsThrGlu) c.3502_3503insCCG (p.Lys1168delinsThrGlu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCGGTGG | CA974532141 | GRIN2A | c.3346_3347insCCACCG (p.Lys1116delinsThrThrGlu) c.2875_2876insCCACCG (p.Lys959delinsThrThrGlu) n.2939_2940insCCACCG c.*716_*717insCCACCG (n.*716_*717insCCACCG) c.2935_2936insCCACCG (p.Lys979delinsThrThrGlu) n.2985_2986insCCACCG c.3187_3188insCCACCG (p.Lys1063delinsThrThrGlu) c.3088_3089insCCACCG (p.Lys1030delinsThrThrGlu) c.3502_3503insCCACCG (p.Lys1168delinsThrThrGlu) | gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCGGTGGTCGCCG | CA974532148 | GRIN2A | c.3346_3347insCGGCGACCACCG (p.Lys1116delinsThrAlaThrThrGlu) c.2875_2876insCGGCGACCACCG (p.Lys959delinsThrAlaThrThrGlu) n.2939_2940insCGGCGACCACCG c.*716_*717insCGGCGACCACCG (n.*716_*717insCGGCGACCACCG) c.2935_2936insCGGCGACCACCG (p.Lys979delinsThrAlaThrThrGlu) n.2985_2986insCGGCGACCACCG c.3187_3188insCGGCGACCACCG (p.Lys1063delinsThrAlaThrThrGlu) c.3088_3089insCGGCGACCACCG (p.Lys1030delinsThrAlaThrThrGlu) c.3502_3503insCGGCGACCACCG (p.Lys1168delinsThrAlaThrThrGlu) | gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCGGTGGTCGCCGTATCATTAAAAAA | CA974532138 | GRIN2A | c.3346_3347insTTTTTTAATGATACGGCGACCACCG (p.Lys1116IlefsTer3) c.2875_2876insTTTTTTAATGATACGGCGACCACCG (p.Lys959IlefsTer3) n.2939_2940insTTTTTTAATGATACGGCGACCACCG c.*716_*717insTTTTTTAATGATACGGCGACCACCG (n.*716_*717insTTTTTTAATGATACGGCGACCACCG) c.2935_2936insTTTTTTAATGATACGGCGACCACCG (p.Lys979IlefsTer3) n.2985_2986insTTTTTTAATGATACGGCGACCACCG c.3187_3188insTTTTTTAATGATACGGCGACCACCG (p.Lys1063IlefsTer3) c.3088_3089insTTTTTTAATGATACGGCGACCACCG (p.Lys1030IlefsTer3) c.3502_3503insTTTTTTAATGATACGGCGACCACCG (p.Lys1168IlefsTer3) | gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCGGTGGTCGCCGTATCATTAAAAAAA | CA974532135 | GRIN2A | c.3346_3347insTTTTTTTAATGATACGGCGACCACCG (p.Lys1116IlefsTer14) c.2875_2876insTTTTTTTAATGATACGGCGACCACCG (p.Lys959IlefsTer14) n.2939_2940insTTTTTTTAATGATACGGCGACCACCG c.*716_*717insTTTTTTTAATGATACGGCGACCACCG (n.*716_*717insTTTTTTTAATGATACGGCGACCACCG) c.2935_2936insTTTTTTTAATGATACGGCGACCACCG (p.Lys979IlefsTer14) n.2985_2986insTTTTTTTAATGATACGGCGACCACCG c.3187_3188insTTTTTTTAATGATACGGCGACCACCG (p.Lys1063IlefsTer14) c.3088_3089insTTTTTTTAATGATACGGCGACCACCG (p.Lys1030IlefsTer14) c.3502_3503insTTTTTTTAATGATACGGCGACCACCG (p.Lys1168IlefsTer14) | gnomAD v3 gnomAD v4 |
16 | g.9764197_9764198insCGGTGGTCGCCGTATCATTAAAAAATTTCA | CA974532132 | GRIN2A | c.3346_3347insTGAAATTTTTTAATGATACGGCGACCACCG (p.Lys1116delinsMetLysPhePheAsnAspThrAlaThrThrGlu) c.2875_2876insTGAAATTTTTTAATGATACGGCGACCACCG (p.Lys959delinsMetLysPhePheAsnAspThrAlaThrThrGlu) n.2939_2940insTGAAATTTTTTAATGATACGGCGACCACCG c.*716_*717insTGAAATTTTTTAATGATACGGCGACCACCG (n.*716_*717insTGAAATTTTTTAATGATACGGCGACCACCG) c.2935_2936insTGAAATTTTTTAATGATACGGCGACCACCG (p.Lys979delinsMetLysPhePheAsnAspThrAlaThrThrGlu) n.2985_2986insTGAAATTTTTTAATGATACGGCGACCACCG c.3187_3188insTGAAATTTTTTAATGATACGGCGACCACCG (p.Lys1063delinsMetLysPhePheAsnAspThrAlaThrThrGlu) c.3088_3089insTGAAATTTTTTAATGATACGGCGACCACCG (p.Lys1030delinsMetLysPhePheAsnAspThrAlaThrThrGlu) c.3502_3503insTGAAATTTTTTAATGATACGGCGACCACCG (p.Lys1168delinsMetLysPhePheAsnAspThrAlaThrThrGlu) | gnomAD v3 gnomAD v4 |
16 | g.9764198T>A | CA394708071 | GRIN2A | c.3346A>T (p.Lys1116Ter) c.2875A>T (p.Lys959Ter) n.2939A>T c.*716A>T (n.*716A>T) c.2935A>T (p.Lys979Ter) n.2985A>T c.3187A>T (p.Lys1063Ter) c.3088A>T (p.Lys1030Ter) c.3502A>T (p.Lys1168Ter) | dbSNP COSMIC |
16 | g.9764198T>C | CA394708072 | GRIN2A | c.3346A>G (p.Lys1116Glu) c.2875A>G (p.Lys959Glu) n.2939A>G c.*716A>G (n.*716A>G) c.2935A>G (p.Lys979Glu) n.2985A>G c.3187A>G (p.Lys1063Glu) c.3088A>G (p.Lys1030Glu) c.3502A>G (p.Lys1168Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9764198T>G | CA394708073 | GRIN2A | c.3346A>C (p.Lys1116Gln) c.2875A>C (p.Lys959Gln) n.2939A>C c.*716A>C (n.*716A>C) c.2935A>C (p.Lys979Gln) n.2985A>C c.3187A>C (p.Lys1063Gln) c.3088A>C (p.Lys1030Gln) c.3502A>C (p.Lys1168Gln) | |
16 | g.9764198T= | CA2206693102 | GRIN2A | c.3346A= (p.Lys1116=) c.2875A= (p.Lys959=) n.2939A= c.*716A= (n.*716A=) c.2935A= (p.Lys979=) n.2985A= c.3187A= (p.Lys1063=) c.3088A= (p.Lys1030=) c.3502A= (p.Lys1168=) | |
16 | g.9764198_9764199insTG | CA974532168 | GRIN2A | c.3345_3346insCA (p.Lys1116GlnfsTer6) c.2874_2875insCA (p.Lys959GlnfsTer6) n.2938_2939insCA c.*715_*716insCA (n.*715_*716insCA) c.2934_2935insCA (p.Lys979GlnfsTer6) n.2984_2985insCA c.3186_3187insCA (p.Lys1063GlnfsTer6) c.3087_3088insCA (p.Lys1030GlnfsTer6) c.3501_3502insCA (p.Lys1168GlnfsTer6) | gnomAD v3 gnomAD v4 |
16 | g.9764199G>A | CA493692984 | GRIN2A | c.3345C>T (p.Asp1115=) c.2874C>T (p.Asp958=) n.2938C>T c.*715C>T (n.*715C>T) c.2934C>T (p.Asp978=) n.2984C>T c.3186C>T (p.Asp1062=) c.3087C>T (p.Asp1029=) c.3501C>T (p.Asp1167=) | ClinVar |
16 | g.9764199G>C | CA277537425 | GRIN2A | c.3345C>G (p.Asp1115Glu) c.2874C>G (p.Asp958Glu) n.2938C>G c.*715C>G (n.*715C>G) c.2934C>G (p.Asp978Glu) n.2984C>G c.3186C>G (p.Asp1062Glu) c.3087C>G (p.Asp1029Glu) c.3501C>G (p.Asp1167Glu) | ClinVar dbSNP |
16 | g.9764199G= | CA2206693103 | GRIN2A | c.3345C= (p.Asp1115=) c.2874C= (p.Asp958=) n.2938C= c.*715C= (n.*715C=) c.2934C= (p.Asp978=) n.2984C= c.3186C= (p.Asp1062=) c.3087C= (p.Asp1029=) c.3501C= (p.Asp1167=) | |
16 | g.9764199G>T | CA7896333 | GRIN2A | c.3345C>A (p.Asp1115Glu) c.2874C>A (p.Asp958Glu) n.2938C>A c.*715C>A (n.*715C>A) c.2934C>A (p.Asp978Glu) n.2984C>A c.3186C>A (p.Asp1062Glu) c.3087C>A (p.Asp1029Glu) c.3501C>A (p.Asp1167Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9764199_9764200insGTGG | CA2631675661 | GRIN2A | c.3345_3346insCACC (p.Lys1116HisfsTer9) c.2874_2875insCACC (p.Lys959HisfsTer9) n.2938_2939insCACC c.*715_*716insCACC (n.*715_*716insCACC) c.2934_2935insCACC (p.Lys979HisfsTer9) n.2984_2985insCACC c.3186_3187insCACC (p.Lys1063HisfsTer9) c.3087_3088insCACC (p.Lys1030HisfsTer9) c.3501_3502insCACC (p.Lys1168HisfsTer9) | gnomAD v4 |
16 | g.9764199dup | CA621175129 | GRIN2A | c.3345dup (p.Lys1116GlnfsTer8) c.2874dup (p.Lys959GlnfsTer8) n.2938dup c.*715dup (n.*715dup) c.2934dup (p.Lys979GlnfsTer8) n.2984dup c.3186dup (p.Lys1063GlnfsTer8) c.3087dup (p.Lys1030GlnfsTer8) c.3501dup (p.Lys1168GlnfsTer8) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9764199_9764217delinsGTCTCTAGGGGAGCTTGAT | CA2206693104 | GRIN2A | c.3327_3345delinsATCAAGCTCCCCTAGAGAC (p.Lys1109=) c.2856_2874delinsATCAAGCTCCCCTAGAGAC (p.Lys952=) n.2920_2938delinsATCAAGCTCCCCTAGAGAC c.*697_*715delinsATCAAGCTCCCCTAGAGAC (n.*697_*715delinsATCAAGCTCCCCTAGAGAC) c.2916_2934delinsATCAAGCTCCCCTAGAGAC (p.Lys972=) n.2966_2984delinsATCAAGCTCCCCTAGAGAC c.3168_3186delinsATCAAGCTCCCCTAGAGAC (p.Lys1056=) c.3069_3087delinsATCAAGCTCCCCTAGAGAC (p.Lys1023=) c.3483_3501delinsATCAAGCTCCCCTAGAGAC (p.Lys1161=) |