| 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.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 |