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.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.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.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.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=) | |
| 16 | g.9764199_9764200insGTCGCCGTA | CA974532188 | GRIN2A | c.3344_3345insTACGGCGAC (p.Asp1115_Lys1116insThrAlaThr) c.2873_2874insTACGGCGAC (p.Asp958_Lys959insThrAlaThr) n.2937_2938insTACGGCGAC c.*714_*715insTACGGCGAC (n.*714_*715insTACGGCGAC) c.2933_2934insTACGGCGAC (p.Asp978_Lys979insThrAlaThr) n.2983_2984insTACGGCGAC c.3185_3186insTACGGCGAC (p.Asp1062_Lys1063insThrAlaThr) c.3086_3087insTACGGCGAC (p.Asp1029_Lys1030insThrAlaThr) c.3500_3501insTACGGCGAC (p.Asp1167_Lys1168insThrAlaThr) | gnomAD v3 gnomAD v4 |
| 16 | g.9764199_9764200insGTCGCCGTATCATTAAAAAATT | CA974532186 | GRIN2A | c.3344_3345insAATTTTTTAATGATACGGCGAC (p.Asp1115GlufsTer4) c.2873_2874insAATTTTTTAATGATACGGCGAC (p.Asp958GlufsTer4) n.2937_2938insAATTTTTTAATGATACGGCGAC c.*714_*715insAATTTTTTAATGATACGGCGAC (n.*714_*715insAATTTTTTAATGATACGGCGAC) c.2933_2934insAATTTTTTAATGATACGGCGAC (p.Asp978GlufsTer4) n.2983_2984insAATTTTTTAATGATACGGCGAC c.3185_3186insAATTTTTTAATGATACGGCGAC (p.Asp1062GlufsTer4) c.3086_3087insAATTTTTTAATGATACGGCGAC (p.Asp1029GlufsTer4) c.3500_3501insAATTTTTTAATGATACGGCGAC (p.Asp1167GlufsTer4) | gnomAD v3 gnomAD v4 |
| 16 | g.9764200del | CA974532184 | GRIN2A | c.3344del (p.Asp1115AlafsTer6) c.2873del (p.Asp958AlafsTer6) n.2937del c.*714del (n.*714del) c.2933del (p.Asp978AlafsTer6) n.2983del c.3185del (p.Asp1062AlafsTer6) c.3086del (p.Asp1029AlafsTer6) c.3500del (p.Asp1167AlafsTer6) | gnomAD v3 gnomAD v4 |
| 16 | g.9764200T>A | CA314974 | GRIN2A | c.3344A>T (p.Asp1115Val) c.2873A>T (p.Asp958Val) n.2937A>T c.*714A>T (n.*714A>T) c.2933A>T (p.Asp978Val) n.2983A>T c.3185A>T (p.Asp1062Val) c.3086A>T (p.Asp1029Val) c.3500A>T (p.Asp1167Val) | ClinVar dbSNP |
| 16 | g.9764200T>C | CA394708075 | GRIN2A | c.3344A>G (p.Asp1115Gly) c.2873A>G (p.Asp958Gly) n.2937A>G c.*714A>G (n.*714A>G) c.2933A>G (p.Asp978Gly) n.2983A>G c.3185A>G (p.Asp1062Gly) c.3086A>G (p.Asp1029Gly) c.3500A>G (p.Asp1167Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764200T>G | CA394708074 | GRIN2A | c.3344A>C (p.Asp1115Ala) c.2873A>C (p.Asp958Ala) n.2937A>C c.*714A>C (n.*714A>C) c.2933A>C (p.Asp978Ala) n.2983A>C c.3185A>C (p.Asp1062Ala) c.3086A>C (p.Asp1029Ala) c.3500A>C (p.Asp1167Ala) | gnomAD v3 gnomAD v4 |
| 16 | g.9764200T= | CA2206693105 | GRIN2A | c.3344A= (p.Asp1115=) c.2873A= (p.Asp958=) n.2937A= c.*714A= (n.*714A=) c.2933A= (p.Asp978=) n.2983A= c.3185A= (p.Asp1062=) c.3086A= (p.Asp1029=) c.3500A= (p.Asp1167=) | |
| 16 | g.9764200_9764202del | CA974532177 | GRIN2A | c.3342_3344del (p.Arg1114_Asp1115delinsSer) c.2871_2873del (p.Arg957_Asp958delinsSer) n.2935_2937del c.*712_*714del (n.*712_*714del) c.2931_2933del (p.Arg977_Asp978delinsSer) n.2981_2983del c.3183_3185del (p.Arg1061_Asp1062delinsSer) c.3084_3086del (p.Arg1028_Asp1029delinsSer) c.3498_3500del (p.Arg1166_Asp1167delinsSer) | gnomAD v3 gnomAD v4 |
| 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.9764200_9764201insTG | CA974532194 | GRIN2A | c.3343_3344insCA (p.Asp1115AlafsTer7) c.2872_2873insCA (p.Asp958AlafsTer7) n.2936_2937insCA c.*713_*714insCA (n.*713_*714insCA) c.2932_2933insCA (p.Asp978AlafsTer7) n.2982_2983insCA c.3184_3185insCA (p.Asp1062AlafsTer7) c.3085_3086insCA (p.Asp1029AlafsTer7) c.3499_3500insCA (p.Asp1167AlafsTer7) | gnomAD v3 gnomAD v4 |
| 16 | g.9764201del | CA974532196 | GRIN2A | c.3343del (p.Asp1115ThrfsTer6) c.2872del (p.Asp958ThrfsTer6) n.2936del c.*713del (n.*713del) c.2932del (p.Asp978ThrfsTer6) n.2982del c.3184del (p.Asp1062ThrfsTer6) c.3085del (p.Asp1029ThrfsTer6) c.3499del (p.Asp1167ThrfsTer6) | gnomAD v3 gnomAD v4 |
| 16 | g.9764201C>A | CA394708076 | GRIN2A | c.3343G>T (p.Asp1115Tyr) c.2872G>T (p.Asp958Tyr) n.2936G>T c.*713G>T (n.*713G>T) c.2932G>T (p.Asp978Tyr) n.2982G>T c.3184G>T (p.Asp1062Tyr) c.3085G>T (p.Asp1029Tyr) c.3499G>T (p.Asp1167Tyr) | |
| 16 | g.9764201C= | CA2206693106 | GRIN2A | c.3343G= (p.Asp1115=) c.2872G= (p.Asp958=) n.2936G= c.*713G= (n.*713G=) c.2932G= (p.Asp978=) n.2982G= c.3184G= (p.Asp1062=) c.3085G= (p.Asp1029=) c.3499G= (p.Asp1167=) | |
| 16 | g.9764201C>G | CA277537427 | GRIN2A | c.3343G>C (p.Asp1115His) c.2872G>C (p.Asp958His) n.2936G>C c.*713G>C (n.*713G>C) c.2932G>C (p.Asp978His) n.2982G>C c.3184G>C (p.Asp1062His) c.3085G>C (p.Asp1029His) c.3499G>C (p.Asp1167His) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764201C>T | CA394708077 | GRIN2A | c.3343G>A (p.Asp1115Asn) c.2872G>A (p.Asp958Asn) n.2936G>A c.*713G>A (n.*713G>A) c.2932G>A (p.Asp978Asn) n.2982G>A c.3184G>A (p.Asp1062Asn) c.3085G>A (p.Asp1029Asn) c.3499G>A (p.Asp1167Asn) | gnomAD v3 gnomAD v4 |
| 16 | g.9764201_9764202insGC | CA2553742910 | GRIN2A | c.3343_3344insCG (p.Asp1115AlafsTer7) c.2872_2873insCG (p.Asp958AlafsTer7) n.2936_2937insCG c.*713_*714insCG (n.*713_*714insCG) c.2932_2933insCG (p.Asp978AlafsTer7) n.2982_2983insCG c.3184_3185insCG (p.Asp1062AlafsTer7) c.3085_3086insCG (p.Asp1029AlafsTer7) c.3499_3500insCG (p.Asp1167AlafsTer7) | |
| 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.9764201_9764202insGG | CA974532212 | GRIN2A | c.3342_3343insCC (p.Asp1115ProfsTer7) c.2871_2872insCC (p.Asp958ProfsTer7) n.2935_2936insCC c.*712_*713insCC (n.*712_*713insCC) c.2931_2932insCC (p.Asp978ProfsTer7) n.2981_2982insCC c.3183_3184insCC (p.Asp1062ProfsTer7) c.3084_3085insCC (p.Asp1029ProfsTer7) c.3498_3499insCC (p.Asp1167ProfsTer7) | gnomAD v3 gnomAD v4 |
| 16 | g.9764201_9764202insGCCGTA | CA974532203 | GRIN2A | c.3342_3343insTACGGC (p.Arg1114_Asp1115insTyrGly) c.2871_2872insTACGGC (p.Arg957_Asp958insTyrGly) n.2935_2936insTACGGC c.*712_*713insTACGGC (n.*712_*713insTACGGC) c.2931_2932insTACGGC (p.Arg977_Asp978insTyrGly) n.2981_2982insTACGGC c.3183_3184insTACGGC (p.Arg1061_Asp1062insTyrGly) c.3084_3085insTACGGC (p.Arg1028_Asp1029insTyrGly) c.3498_3499insTACGGC (p.Arg1166_Asp1167insTyrGly) | gnomAD v3 gnomAD v4 |
| 16 | g.9764202T>A | CA394708078 | GRIN2A | c.3342A>T (p.Arg1114Ser) c.2871A>T (p.Arg957Ser) n.2935A>T c.*712A>T (n.*712A>T) c.2931A>T (p.Arg977Ser) n.2981A>T c.3183A>T (p.Arg1061Ser) c.3084A>T (p.Arg1028Ser) c.3498A>T (p.Arg1166Ser) | dbSNP |
| 16 | g.9764202T>C | CA493692989 | GRIN2A | c.3342A>G (p.Arg1114=) c.2871A>G (p.Arg957=) n.2935A>G c.*712A>G (n.*712A>G) c.2931A>G (p.Arg977=) n.2981A>G c.3183A>G (p.Arg1061=) c.3084A>G (p.Arg1028=) c.3498A>G (p.Arg1166=) | dbSNP |
| 16 | g.9764202T>G | CA394708079 | GRIN2A | c.3342A>C (p.Arg1114Ser) c.2871A>C (p.Arg957Ser) n.2935A>C c.*712A>C (n.*712A>C) c.2931A>C (p.Arg977Ser) n.2981A>C c.3183A>C (p.Arg1061Ser) c.3084A>C (p.Arg1028Ser) c.3498A>C (p.Arg1166Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764202T= | CA2206693108 | GRIN2A | c.3342A= (p.Arg1114=) c.2871A= (p.Arg957=) n.2935A= c.*712A= (n.*712A=) c.2931A= (p.Arg977=) n.2981A= c.3183A= (p.Arg1061=) c.3084A= (p.Arg1028=) c.3498A= (p.Arg1166=) | |
| 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.9764203C>A | CA394708080 | GRIN2A | c.3341G>T (p.Arg1114Ile) c.2870G>T (p.Arg957Ile) n.2934G>T c.*711G>T (n.*711G>T) c.2930G>T (p.Arg977Ile) n.2980G>T c.3182G>T (p.Arg1061Ile) c.3083G>T (p.Arg1028Ile) c.3497G>T (p.Arg1166Ile) | dbSNP |
| 16 | g.9764203C= | CA2206693109 | GRIN2A | c.3341G= (p.Arg1114=) c.2870G= (p.Arg957=) n.2934G= c.*711G= (n.*711G=) c.2930G= (p.Arg977=) n.2980G= c.3182G= (p.Arg1061=) c.3083G= (p.Arg1028=) c.3497G= (p.Arg1166=) | |
| 16 | g.9764203C>G | CA314972 | GRIN2A | c.3341G>C (p.Arg1114Thr) c.2870G>C (p.Arg957Thr) n.2934G>C c.*711G>C (n.*711G>C) c.2930G>C (p.Arg977Thr) n.2980G>C c.3182G>C (p.Arg1061Thr) c.3083G>C (p.Arg1028Thr) c.3497G>C (p.Arg1166Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764203C>T | CA394708081 | GRIN2A | c.3341G>A (p.Arg1114Lys) c.2870G>A (p.Arg957Lys) n.2934G>A c.*711G>A (n.*711G>A) c.2930G>A (p.Arg977Lys) n.2980G>A c.3182G>A (p.Arg1061Lys) c.3083G>A (p.Arg1028Lys) c.3497G>A (p.Arg1166Lys) | dbSNP |
| 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 |