UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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=) | |
| 16 | g.9764200_9764205del | CA974532182 | GRIN2A | c.3339_3344del (p.Arg1114_Asp1115del) c.2868_2873del (p.Arg957_Asp958del) n.2932_2937del c.*709_*714del (n.*709_*714del) c.2928_2933del (p.Arg977_Asp978del) n.2978_2983del c.3180_3185del (p.Arg1061_Asp1062del) c.3081_3086del (p.Arg1028_Asp1029del) c.3495_3500del (p.Arg1166_Asp1167del) | gnomAD v3 gnomAD v4 |
| 16 | g.9764201_9764218del | CA974532181 | GRIN2A | c.3327_3344del (p.Lys1109_Asp1115delinsAsn) c.2856_2873del (p.Lys952_Asp958delinsAsn) n.2920_2937del c.*697_*714del (n.*697_*714del) c.2916_2933del (p.Lys972_Asp978delinsAsn) n.2966_2983del c.3168_3185del (p.Lys1056_Asp1062delinsAsn) c.3069_3086del (p.Lys1023_Asp1029delinsAsn) c.3483_3500del (p.Lys1161_Asp1167delinsAsn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764201_9764205delinsCTCTA | CA2206693107 | GRIN2A | c.3339_3343delinsTAGAG (p.Pro1113=) c.2868_2872delinsTAGAG (p.Pro956=) n.2932_2936delinsTAGAG c.*709_*713delinsTAGAG (n.*709_*713delinsTAGAG) c.2928_2932delinsTAGAG (p.Pro976=) n.2978_2982delinsTAGAG c.3180_3184delinsTAGAG (p.Pro1060=) c.3081_3085delinsTAGAG (p.Pro1027=) c.3495_3499delinsTAGAG (p.Pro1165=) | |
| 16 | g.9764202_9764205del | CA621175130 | GRIN2A | c.3339_3342del (p.Arg1114ThrfsTer6) c.2868_2871del (p.Arg957ThrfsTer6) n.2932_2935del c.*709_*712del (n.*709_*712del) c.2928_2931del (p.Arg977ThrfsTer6) n.2978_2981del c.3180_3183del (p.Arg1061ThrfsTer6) c.3081_3084del (p.Arg1028ThrfsTer6) c.3495_3498del (p.Arg1166ThrfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764202_9764206del | CA974532217 | GRIN2A | c.3338_3342del (p.Pro1113ArgfsTer9) c.2867_2871del (p.Pro956ArgfsTer9) n.2931_2935del c.*708_*712del (n.*708_*712del) c.2927_2931del (p.Pro976ArgfsTer9) n.2977_2981del c.3179_3183del (p.Pro1060ArgfsTer9) c.3080_3084del (p.Pro1027ArgfsTer9) c.3494_3498del (p.Pro1165ArgfsTer9) | gnomAD v3 gnomAD v4 |
| 16 | g.9764202_9764207del | CA974532206 | GRIN2A | c.3337_3342del (p.Pro1113_Arg1114del) c.2866_2871del (p.Pro956_Arg957del) n.2930_2935del c.*707_*712del (n.*707_*712del) c.2926_2931del (p.Pro976_Arg977del) n.2976_2981del c.3178_3183del (p.Pro1060_Arg1061del) c.3079_3084del (p.Pro1027_Arg1028del) c.3493_3498del (p.Pro1165_Arg1166del) | gnomAD v3 gnomAD v4 |
| 16 | g.9764202_9764210del | CA974532205 | GRIN2A | c.3334_3342del (p.Ser1112_Arg1114del) c.2863_2871del (p.Ser955_Arg957del) n.2927_2935del c.*704_*712del (n.*704_*712del) c.2923_2931del (p.Ser975_Arg977del) n.2973_2981del c.3175_3183del (p.Ser1059_Arg1061del) c.3076_3084del (p.Ser1026_Arg1028del) c.3490_3498del (p.Ser1164_Arg1166del) | gnomAD v3 gnomAD v4 |
| 16 | g.9764203_9764205del | CA974532229 | GRIN2A | c.3339_3341del (p.Arg1114del) c.2868_2870del (p.Arg957del) n.2932_2934del c.*709_*711del (n.*709_*711del) c.2928_2930del (p.Arg977del) n.2978_2980del c.3180_3182del (p.Arg1061del) c.3081_3083del (p.Arg1028del) c.3495_3497del (p.Arg1166del) | gnomAD v3 gnomAD v4 |
| 16 | g.9764203_9764206del | CA974532230 | GRIN2A | c.3338_3341del (p.Pro1113GlnfsTer7) c.2867_2870del (p.Pro956GlnfsTer7) n.2931_2934del c.*708_*711del (n.*708_*711del) c.2927_2930del (p.Pro976GlnfsTer7) n.2977_2980del c.3179_3182del (p.Pro1060GlnfsTer7) c.3080_3083del (p.Pro1027GlnfsTer7) c.3494_3497del (p.Pro1165GlnfsTer7) | gnomAD v3 gnomAD v4 |
| 16 | g.9764204_9764206del | CA974532246 | GRIN2A | c.3338_3340del (p.Pro1113del) c.2867_2869del (p.Pro956del) n.2931_2933del c.*708_*710del (n.*708_*710del) c.2927_2929del (p.Pro976del) n.2977_2979del c.3179_3181del (p.Pro1060del) c.3080_3082del (p.Pro1027del) c.3494_3496del (p.Pro1165del) | gnomAD v3 gnomAD v4 |
| 16 | g.9764204_9764207del | CA2511614264 | GRIN2A | c.3337_3340del (p.Pro1113GlufsTer7) c.2866_2869del (p.Pro956GlufsTer7) n.2930_2933del c.*707_*710del (n.*707_*710del) c.2926_2929del (p.Pro976GlufsTer7) n.2976_2979del c.3178_3181del (p.Pro1060GlufsTer7) c.3079_3082del (p.Pro1027GlufsTer7) c.3493_3496del (p.Pro1165GlufsTer7) | |
| 16 | g.9764204_9764210del | CA974532239 | GRIN2A | c.3334_3340del (p.Ser1112GlufsTer7) c.2863_2869del (p.Ser955GlufsTer7) n.2927_2933del c.*704_*710del (n.*704_*710del) c.2923_2929del (p.Ser975GlufsTer7) n.2973_2979del c.3175_3181del (p.Ser1059GlufsTer7) c.3076_3082del (p.Ser1026GlufsTer7) c.3490_3496del (p.Ser1164GlufsTer7) | gnomAD v3 gnomAD v4 |
| 16 | g.9764204_9764211del | CA974532243 | GRIN2A | c.3333_3340del (p.Ser1111ArgfsTer10) c.2862_2869del (p.Ser954ArgfsTer10) n.2926_2933del c.*703_*710del (n.*703_*710del) c.2922_2929del (p.Ser974ArgfsTer10) n.2972_2979del c.3174_3181del (p.Ser1058ArgfsTer10) c.3075_3082del (p.Ser1025ArgfsTer10) c.3489_3496del (p.Ser1163ArgfsTer10) | gnomAD v3 gnomAD v4 |
| 16 | g.9764205A>C | CA493692993 | GRIN2A | c.3339T>G (p.Pro1113=) c.2868T>G (p.Pro956=) n.2932T>G c.*709T>G (n.*709T>G) c.2928T>G (p.Pro976=) n.2978T>G c.3180T>G (p.Pro1060=) c.3081T>G (p.Pro1027=) c.3495T>G (p.Pro1165=) | |
| 16 | g.9764205A>G | CA493692994 | GRIN2A | c.3339T>C (p.Pro1113=) c.2868T>C (p.Pro956=) n.2932T>C c.*709T>C (n.*709T>C) c.2928T>C (p.Pro976=) n.2978T>C c.3180T>C (p.Pro1060=) c.3081T>C (p.Pro1027=) c.3495T>C (p.Pro1165=) | ClinVar dbSNP |
| 16 | g.9764205A>T | CA493692995 | GRIN2A | c.3339T>A (p.Pro1113=) c.2868T>A (p.Pro956=) n.2932T>A c.*709T>A (n.*709T>A) c.2928T>A (p.Pro976=) n.2978T>A c.3180T>A (p.Pro1060=) c.3081T>A (p.Pro1027=) c.3495T>A (p.Pro1165=) | |
| 16 | g.9764205_9764213delinsAGGGGAGCT | CA2206693111 | GRIN2A | c.3331_3339delinsAGCTCCCCT (p.Ser1111=) c.2860_2868delinsAGCTCCCCT (p.Ser954=) n.2924_2932delinsAGCTCCCCT c.*701_*709delinsAGCTCCCCT (n.*701_*709delinsAGCTCCCCT) c.2920_2928delinsAGCTCCCCT (p.Ser974=) n.2970_2978delinsAGCTCCCCT c.3172_3180delinsAGCTCCCCT (p.Ser1058=) c.3073_3081delinsAGCTCCCCT (p.Ser1025=) c.3487_3495delinsAGCTCCCCT (p.Ser1163=) | |
| 16 | g.9764206G>A | CA7896334 | GRIN2A | c.3338C>T (p.Pro1113Leu) c.2867C>T (p.Pro956Leu) n.2931C>T c.*708C>T (n.*708C>T) c.2927C>T (p.Pro976Leu) n.2977C>T c.3179C>T (p.Pro1060Leu) c.3080C>T (p.Pro1027Leu) c.3494C>T (p.Pro1165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764206G>C | CA394708084 | GRIN2A | c.3338C>G (p.Pro1113Arg) c.2867C>G (p.Pro956Arg) n.2931C>G c.*708C>G (n.*708C>G) c.2927C>G (p.Pro976Arg) n.2977C>G c.3179C>G (p.Pro1060Arg) c.3080C>G (p.Pro1027Arg) c.3494C>G (p.Pro1165Arg) | dbSNP |
| 16 | g.9764206G= | CA2206693112 | GRIN2A | c.3338C= (p.Pro1113=) c.2867C= (p.Pro956=) n.2931C= c.*708C= (n.*708C=) c.2927C= (p.Pro976=) n.2977C= c.3179C= (p.Pro1060=) c.3080C= (p.Pro1027=) c.3494C= (p.Pro1165=) | |
| 16 | g.9764206G>T | CA394708085 | GRIN2A | c.3338C>A (p.Pro1113His) c.2867C>A (p.Pro956His) n.2931C>A c.*708C>A (n.*708C>A) c.2927C>A (p.Pro976His) n.2977C>A c.3179C>A (p.Pro1060His) c.3080C>A (p.Pro1027His) c.3494C>A (p.Pro1165His) | dbSNP |
| 16 | g.9764206_9764212del | CA974532284 | GRIN2A | c.3332_3338del (p.Ser1111IlefsTer8) c.2861_2867del (p.Ser954IlefsTer8) n.2925_2931del c.*702_*708del (n.*702_*708del) c.2921_2927del (p.Ser974IlefsTer8) n.2971_2977del c.3173_3179del (p.Ser1058IlefsTer8) c.3074_3080del (p.Ser1025IlefsTer8) c.3488_3494del (p.Ser1163IlefsTer8) | gnomAD v3 gnomAD v4 |
| 16 | g.9764206_9764213del | CA621175132 | GRIN2A | c.3331_3338del (p.Ser1111Ter) c.2860_2867del (p.Ser954Ter) n.2924_2931del c.*701_*708del (n.*701_*708del) c.2920_2927del (p.Ser974Ter) n.2970_2977del c.3172_3179del (p.Ser1058Ter) c.3073_3080del (p.Ser1025Ter) c.3487_3494del (p.Ser1163Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764206_9764207insT | CA974532289 | GRIN2A | c.3337_3338insA (p.Pro1113HisfsTer2) c.2866_2867insA (p.Pro956HisfsTer2) n.2930_2931insA c.*707_*708insA (n.*707_*708insA) c.2926_2927insA (p.Pro976HisfsTer2) n.2976_2977insA c.3178_3179insA (p.Pro1060HisfsTer2) c.3079_3080insA (p.Pro1027HisfsTer2) c.3493_3494insA (p.Pro1165HisfsTer2) | gnomAD v3 gnomAD v4 |
| 16 | g.9764207G>A | CA394708086 | GRIN2A | c.3337C>T (p.Pro1113Ser) c.2866C>T (p.Pro956Ser) n.2930C>T c.*707C>T (n.*707C>T) c.2926C>T (p.Pro976Ser) n.2976C>T c.3178C>T (p.Pro1060Ser) c.3079C>T (p.Pro1027Ser) c.3493C>T (p.Pro1165Ser) | dbSNP |
| 16 | g.9764207G>C | CA394708087 | GRIN2A | c.3337C>G (p.Pro1113Ala) c.2866C>G (p.Pro956Ala) n.2930C>G c.*707C>G (n.*707C>G) c.2926C>G (p.Pro976Ala) n.2976C>G c.3178C>G (p.Pro1060Ala) c.3079C>G (p.Pro1027Ala) c.3493C>G (p.Pro1165Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764207G= | CA2206693114 | GRIN2A | c.3337C= (p.Pro1113=) c.2866C= (p.Pro956=) n.2930C= c.*707C= (n.*707C=) c.2926C= (p.Pro976=) n.2976C= c.3178C= (p.Pro1060=) c.3079C= (p.Pro1027=) c.3493C= (p.Pro1165=) | |
| 16 | g.9764207G>T | CA394708088 | GRIN2A | c.3337C>A (p.Pro1113Thr) c.2866C>A (p.Pro956Thr) n.2930C>A c.*707C>A (n.*707C>A) c.2926C>A (p.Pro976Thr) n.2976C>A c.3178C>A (p.Pro1060Thr) c.3079C>A (p.Pro1027Thr) c.3493C>A (p.Pro1165Thr) | dbSNP |
| 16 | g.9764207_9764208delinsAA | CA645570190 | GRIN2A | c.3336_3337delinsTT (p.Pro1113Ser) c.2865_2866delinsTT (p.Pro956Ser) n.2929_2930delinsTT c.*706_*707delinsTT (n.*706_*707delinsTT) c.2925_2926delinsTT (p.Pro976Ser) n.2975_2976delinsTT c.3177_3178delinsTT (p.Pro1060Ser) c.3078_3079delinsTT (p.Pro1027Ser) c.3492_3493delinsTT (p.Pro1165Ser) | COSMIC |
| 16 | g.9764207_9764218delinsGGGAGCTTGATT | CA2206693113 | GRIN2A | c.3326_3337delinsAATCAAGCTCCC (p.Lys1109=) c.2855_2866delinsAATCAAGCTCCC (p.Lys952=) n.2919_2930delinsAATCAAGCTCCC c.*696_*707delinsAATCAAGCTCCC (n.*696_*707delinsAATCAAGCTCCC) c.2915_2926delinsAATCAAGCTCCC (p.Lys972=) n.2965_2976delinsAATCAAGCTCCC c.3167_3178delinsAATCAAGCTCCC (p.Lys1056=) c.3068_3079delinsAATCAAGCTCCC (p.Lys1023=) c.3482_3493delinsAATCAAGCTCCC (p.Lys1161=) | |
| 16 | g.9764207_9764208insCC | CA974532298 | GRIN2A | c.3336_3337insGG (p.Pro1113GlyfsTer9) c.2865_2866insGG (p.Pro956GlyfsTer9) n.2929_2930insGG c.*706_*707insGG (n.*706_*707insGG) c.2925_2926insGG (p.Pro976GlyfsTer9) n.2975_2976insGG c.3177_3178insGG (p.Pro1060GlyfsTer9) c.3078_3079insGG (p.Pro1027GlyfsTer9) c.3492_3493insGG (p.Pro1165GlyfsTer9) | gnomAD v3 gnomAD v4 |
| 16 | g.9764207_9764208insTC | CA974532322 | GRIN2A | c.3336_3337insGA (p.Pro1113AspfsTer9) c.2865_2866insGA (p.Pro956AspfsTer9) n.2929_2930insGA c.*706_*707insGA (n.*706_*707insGA) c.2925_2926insGA (p.Pro976AspfsTer9) n.2975_2976insGA c.3177_3178insGA (p.Pro1060AspfsTer9) c.3078_3079insGA (p.Pro1027AspfsTer9) c.3492_3493insGA (p.Pro1165AspfsTer9) | gnomAD v3 gnomAD v4 |
| 16 | g.9764208G>A | CA493692998 | GRIN2A | c.3336C>T (p.Ser1112=) c.2865C>T (p.Ser955=) n.2929C>T c.*706C>T (n.*706C>T) c.2925C>T (p.Ser975=) n.2975C>T c.3177C>T (p.Ser1059=) c.3078C>T (p.Ser1026=) c.3492C>T (p.Ser1164=) | dbSNP gnomAD v4 |
| 16 | g.9764208G>C | CA493692999 | GRIN2A | c.3336C>G (p.Ser1112=) c.2865C>G (p.Ser955=) n.2929C>G c.*706C>G (n.*706C>G) c.2925C>G (p.Ser975=) n.2975C>G c.3177C>G (p.Ser1059=) c.3078C>G (p.Ser1026=) c.3492C>G (p.Ser1164=) | gnomAD v3 gnomAD v4 |
| 16 | g.9764208G>T | CA493693000 | GRIN2A | c.3336C>A (p.Ser1112=) c.2865C>A (p.Ser955=) n.2929C>A c.*706C>A (n.*706C>A) c.2925C>A (p.Ser975=) n.2975C>A c.3177C>A (p.Ser1059=) c.3078C>A (p.Ser1026=) c.3492C>A (p.Ser1164=) | COSMIC |
| 16 | g.9764208_9764218del | CA621175133 | GRIN2A | c.3326_3336del (p.Lys1109ThrfsTer2) c.2855_2865del (p.Lys952ThrfsTer2) n.2919_2929del c.*696_*706del (n.*696_*706del) c.2915_2925del (p.Lys972ThrfsTer2) n.2965_2975del c.3167_3177del (p.Lys1056ThrfsTer2) c.3068_3078del (p.Lys1023ThrfsTer2) c.3482_3492del (p.Lys1161ThrfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764208_9764209insCC | CA2545911698 | GRIN2A | c.3335_3336insGG (p.Pro1113AlafsTer9) c.2864_2865insGG (p.Pro956AlafsTer9) n.2928_2929insGG c.*705_*706insGG (n.*705_*706insGG) c.2924_2925insGG (p.Pro976AlafsTer9) n.2974_2975insGG c.3176_3177insGG (p.Pro1060AlafsTer9) c.3077_3078insGG (p.Pro1027AlafsTer9) c.3491_3492insGG (p.Pro1165AlafsTer9) | gnomAD v4 |
| 16 | g.9764209G>A | CA394708089 | GRIN2A | c.3335C>T (p.Ser1112Phe) c.2864C>T (p.Ser955Phe) n.2928C>T c.*705C>T (n.*705C>T) c.2924C>T (p.Ser975Phe) n.2974C>T c.3176C>T (p.Ser1059Phe) c.3077C>T (p.Ser1026Phe) c.3491C>T (p.Ser1164Phe) | dbSNP |
| 16 | g.9764209G>C | CA394708090 | GRIN2A | c.3335C>G (p.Ser1112Cys) c.2864C>G (p.Ser955Cys) n.2928C>G c.*705C>G (n.*705C>G) c.2924C>G (p.Ser975Cys) n.2974C>G c.3176C>G (p.Ser1059Cys) c.3077C>G (p.Ser1026Cys) c.3491C>G (p.Ser1164Cys) | dbSNP |
| 16 | g.9764209G= | CA2206693115 | GRIN2A | c.3335C= (p.Ser1112=) c.2864C= (p.Ser955=) n.2928C= c.*705C= (n.*705C=) c.2924C= (p.Ser975=) n.2974C= c.3176C= (p.Ser1059=) c.3077C= (p.Ser1026=) c.3491C= (p.Ser1164=) | |
| 16 | g.9764209G>T | CA394708091 | GRIN2A | c.3335C>A (p.Ser1112Tyr) c.2864C>A (p.Ser955Tyr) n.2928C>A c.*705C>A (n.*705C>A) c.2924C>A (p.Ser975Tyr) n.2974C>A c.3176C>A (p.Ser1059Tyr) c.3077C>A (p.Ser1026Tyr) c.3491C>A (p.Ser1164Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764210A>C | CA394708092 | GRIN2A | c.3334T>G (p.Ser1112Ala) c.2863T>G (p.Ser955Ala) n.2927T>G c.*704T>G (n.*704T>G) c.2923T>G (p.Ser975Ala) n.2973T>G c.3175T>G (p.Ser1059Ala) c.3076T>G (p.Ser1026Ala) c.3490T>G (p.Ser1164Ala) | gnomAD v3 gnomAD v4 |
| 16 | g.9764210A>G | CA394708093 | GRIN2A | c.3334T>C (p.Ser1112Pro) c.2863T>C (p.Ser955Pro) n.2927T>C c.*704T>C (n.*704T>C) c.2923T>C (p.Ser975Pro) n.2973T>C c.3175T>C (p.Ser1059Pro) c.3076T>C (p.Ser1026Pro) c.3490T>C (p.Ser1164Pro) | |
| 16 | g.9764210A>T | CA394708094 | GRIN2A | c.3334T>A (p.Ser1112Thr) c.2863T>A (p.Ser955Thr) n.2927T>A c.*704T>A (n.*704T>A) c.2923T>A (p.Ser975Thr) n.2973T>A c.3175T>A (p.Ser1059Thr) c.3076T>A (p.Ser1026Thr) c.3490T>A (p.Ser1164Thr) | gnomAD v3 gnomAD v4 |
| 16 | g.9764211G>A | CA493693005 | GRIN2A | c.3333C>T (p.Ser1111=) c.2862C>T (p.Ser954=) n.2926C>T c.*703C>T (n.*703C>T) c.2922C>T (p.Ser974=) n.2972C>T c.3174C>T (p.Ser1058=) c.3075C>T (p.Ser1025=) c.3489C>T (p.Ser1163=) | dbSNP COSMIC |
| 16 | g.9764211G>C | CA394708095 | GRIN2A | c.3333C>G (p.Ser1111Arg) c.2862C>G (p.Ser954Arg) n.2926C>G c.*703C>G (n.*703C>G) c.2922C>G (p.Ser974Arg) n.2972C>G c.3174C>G (p.Ser1058Arg) c.3075C>G (p.Ser1025Arg) c.3489C>G (p.Ser1163Arg) | dbSNP COSMIC |
| 16 | g.9764211G= | CA2206693116 | GRIN2A | c.3333C= (p.Ser1111=) c.2862C= (p.Ser954=) n.2926C= c.*703C= (n.*703C=) c.2922C= (p.Ser974=) n.2972C= c.3174C= (p.Ser1058=) c.3075C= (p.Ser1025=) c.3489C= (p.Ser1163=) | |
| 16 | g.9764211G>T | CA7896335 | GRIN2A | c.3333C>A (p.Ser1111Arg) c.2862C>A (p.Ser954Arg) n.2926C>A c.*703C>A (n.*703C>A) c.2922C>A (p.Ser974Arg) n.2972C>A c.3174C>A (p.Ser1058Arg) c.3075C>A (p.Ser1025Arg) c.3489C>A (p.Ser1163Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |