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 |
|---|---|---|---|---|---|
| X | g.121048305G>A | CA414409991 | GLUD2 | c.621G>A (p.Met207Ile) | |
| X | g.121048305G>C | CA414409992 | GLUD2 | c.621G>C (p.Met207Ile) | |
| X | g.121048305G>T | CA414409993 | GLUD2 | c.621G>T (p.Met207Ile) | |
| X | g.121048306G>A | CA414409996 | GLUD2 | c.622G>A (p.Glu208Lys) | |
| X | g.121048306G>C | CA414409995 | GLUD2 | c.622G>C (p.Glu208Gln) | |
| X | g.121048306G>T | CA414409994 | GLUD2 | c.622G>T (p.Glu208Ter) | |
| X | g.121048307A>C | CA414409997 | GLUD2 | c.623A>C (p.Glu208Ala) | |
| X | g.121048307A>G | CA414409999 | GLUD2 | c.623A>G (p.Glu208Gly) | |
| X | g.121048307A>T | CA414409998 | GLUD2 | c.623A>T (p.Glu208Val) | |
| X | g.121048307_121048308delinsAG | CA2455035106 | GLUD2 | c.623_624delinsAG (p.Glu208=) | |
| X | g.121048308del | CA870818890 | GLUD2 | c.624del (p.Glu208AspfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048308G>A | CA518461130 | GLUD2 | c.624G>A (p.Glu208=) | |
| X | g.121048308G>C | CA414410000 | GLUD2 | c.624G>C (p.Glu208Asp) | |
| X | g.121048308G>T | CA414410001 | GLUD2 | c.624G>T (p.Glu208Asp) | |
| X | g.121048309C>A | CA414410002 | GLUD2 | c.625C>A (p.Leu209Ile) | |
| X | g.121048309C>G | CA414410003 | GLUD2 | c.625C>G (p.Leu209Val) | gnomAD v4 |
| X | g.121048309C>T | CA518461131 | GLUD2 | c.625C>T (p.Leu209=) | |
| X | g.121048310T>A | CA414410004 | GLUD2 | c.626T>A (p.Leu209Gln) | |
| X | g.121048310T>C | CA414410005 | GLUD2 | c.626T>C (p.Leu209Pro) | |
| X | g.121048310T>G | CA414410006 | GLUD2 | c.626T>G (p.Leu209Arg) | |
| X | g.121048311A= | CA2455035107 | GLUD2 | c.627A= (p.Leu209=) | |
| X | g.121048311A>C | CA518461132 | GLUD2 | c.627A>C (p.Leu209=) | |
| X | g.121048311A>G | CA518461133 | GLUD2 | c.627A>G (p.Leu209=) | dbSNP |
| X | g.121048311A>T | CA518461134 | GLUD2 | c.627A>T (p.Leu209=) | |
| X | g.121048312G>A | CA414410007 | GLUD2 | c.628G>A (p.Ala210Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048312G>C | CA414410008 | GLUD2 | c.628G>C (p.Ala210Pro) | |
| X | g.121048312G= | CA2455035108 | GLUD2 | c.628G= (p.Ala210=) | |
| X | g.121048312G>T | CA414410009 | GLUD2 | c.628G>T (p.Ala210Ser) | |
| X | g.121048313C>A | CA414410010 | GLUD2 | c.629C>A (p.Ala210Glu) | |
| X | g.121048313C>G | CA414410011 | GLUD2 | c.629C>G (p.Ala210Gly) | |
| X | g.121048313C>T | CA414410012 | GLUD2 | c.629C>T (p.Ala210Val) | gnomAD v4 |
| X | g.121048314A>C | CA518461136 | GLUD2 | c.630A>C (p.Ala210=) | |
| X | g.121048314A>G | CA518461137 | GLUD2 | c.630A>G (p.Ala210=) | |
| X | g.121048314A>T | CA518461138 | GLUD2 | c.630A>T (p.Ala210=) | |
| X | g.121048315A>C | CA414410015 | GLUD2 | c.631A>C (p.Lys211Gln) | |
| X | g.121048315A>G | CA414410013 | GLUD2 | c.631A>G (p.Lys211Glu) | |
| X | g.121048315A>T | CA414410014 | GLUD2 | c.631A>T (p.Lys211Ter) | |
| X | g.121048316A= | CA2455035109 | GLUD2 | c.632A= (p.Lys211=) | |
| X | g.121048316A>C | CA414410016 | GLUD2 | c.632A>C (p.Lys211Thr) | |
| X | g.121048316A>G | CA414410017 | GLUD2 | c.632A>G (p.Lys211Arg) | dbSNP |
| X | g.121048316A>T | CA414410018 | GLUD2 | c.632A>T (p.Lys211Met) | |
| X | g.121048317G>A | CA518461142 | GLUD2 | c.633G>A (p.Lys211=) | dbSNP gnomAD v4 COSMIC |
| X | g.121048317G>C | CA414410019 | GLUD2 | c.633G>C (p.Lys211Asn) | |
| X | g.121048317G= | CA2455035110 | GLUD2 | c.633G= (p.Lys211=) | |
| X | g.121048317G>T | CA414410020 | GLUD2 | c.633G>T (p.Lys211Asn) | |
| X | g.121048318A>C | CA414410021 | GLUD2 | c.634A>C (p.Lys212Gln) | |
| X | g.121048318A>G | CA414410022 | GLUD2 | c.634A>G (p.Lys212Glu) | |
| X | g.121048318A>T | CA414410023 | GLUD2 | c.634A>T (p.Lys212Ter) | |
| X | g.121048319A>C | CA414410024 | GLUD2 | c.635A>C (p.Lys212Thr) | |
| X | g.121048319A>G | CA414410025 | GLUD2 | c.635A>G (p.Lys212Arg) | |
| X | g.121048319A>T | CA414410026 | GLUD2 | c.635A>T (p.Lys212Met) | |
| X | g.121048320G>A | CA10506551 | GLUD2 | c.636G>A (p.Lys212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048320G>C | CA414410028 | GLUD2 | c.636G>C (p.Lys212Asn) | dbSNP |
| X | g.121048320G= | CA2455035111 | GLUD2 | c.636G= (p.Lys212=) | |
| X | g.121048320G>T | CA414410027 | GLUD2 | c.636G>T (p.Lys212Asn) | |
| X | g.121048321G>A | CA414410029 | GLUD2 | c.637G>A (p.Gly213Ser) | |
| X | g.121048321G>C | CA414410030 | GLUD2 | c.637G>C (p.Gly213Arg) | |
| X | g.121048321G>T | CA414410031 | GLUD2 | c.637G>T (p.Gly213Cys) | |
| X | g.121048322G>A | CA414410032 | GLUD2 | c.638G>A (p.Gly213Asp) | |
| X | g.121048322G>C | CA414410033 | GLUD2 | c.638G>C (p.Gly213Ala) | |
| X | g.121048322G>T | CA414410034 | GLUD2 | c.638G>T (p.Gly213Val) | |
| X | g.121048323C>A | CA518461145 | GLUD2 | c.639C>A (p.Gly213=) | |
| X | g.121048323C>G | CA518461143 | GLUD2 | c.639C>G (p.Gly213=) | |
| X | g.121048323C>T | CA518461144 | GLUD2 | c.639C>T (p.Gly213=) | gnomAD v4 |
| X | g.121048324T>A | CA414410035 | GLUD2 | c.640T>A (p.Phe214Ile) | |
| X | g.121048324T>C | CA414410036 | GLUD2 | c.640T>C (p.Phe214Leu) | gnomAD v4 |
| X | g.121048324T>G | CA414410037 | GLUD2 | c.640T>G (p.Phe214Val) | |
| X | g.121048325T>A | CA414410038 | GLUD2 | c.641T>A (p.Phe214Tyr) | |
| X | g.121048325T>C | CA414410039 | GLUD2 | c.641T>C (p.Phe214Ser) | |
| X | g.121048325T>G | CA414410040 | GLUD2 | c.641T>G (p.Phe214Cys) | |
| X | g.121048326T>A | CA414410042 | GLUD2 | c.642T>A (p.Phe214Leu) | |
| X | g.121048326T>C | CA518461149 | GLUD2 | c.642T>C (p.Phe214=) | |
| X | g.121048326T>G | CA414410041 | GLUD2 | c.642T>G (p.Phe214Leu) | |
| X | g.121048327A>C | CA414410043 | GLUD2 | c.643A>C (p.Ile215Leu) | |
| X | g.121048327A>G | CA414410044 | GLUD2 | c.643A>G (p.Ile215Val) | gnomAD v4 |
| X | g.121048327A>T | CA414410045 | GLUD2 | c.643A>T (p.Ile215Phe) | |
| X | g.121048328T>A | CA414410046 | GLUD2 | c.644T>A (p.Ile215Asn) | |
| X | g.121048328T>C | CA414410047 | GLUD2 | c.644T>C (p.Ile215Thr) | |
| X | g.121048328T>G | CA414410048 | GLUD2 | c.644T>G (p.Ile215Ser) | |
| X | g.121048329T>A | CA518461151 | GLUD2 | c.645T>A (p.Ile215=) | |
| X | g.121048329T>C | CA518461150 | GLUD2 | c.645T>C (p.Ile215=) | gnomAD v4 |
| X | g.121048329T>G | CA414410049 | GLUD2 | c.645T>G (p.Ile215Met) | |
| X | g.121048330G>A | CA414410050 | GLUD2 | c.646G>A (p.Gly216Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048330G>C | CA335040644 | GLUD2 | c.646G>C (p.Gly216Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048330G= | CA2455035112 | GLUD2 | c.646G= (p.Gly216=) | |
| X | g.121048330G>T | CA414410051 | GLUD2 | c.646G>T (p.Gly216Cys) | |
| X | g.121048331G>A | CA414410052 | GLUD2 | c.647G>A (p.Gly216Asp) | gnomAD v4 |
| X | g.121048331G>C | CA414410053 | GLUD2 | c.647G>C (p.Gly216Ala) | |
| X | g.121048331G>T | CA414410054 | GLUD2 | c.647G>T (p.Gly216Val) | |
| X | g.121048332T>A | CA518461153 | GLUD2 | c.648T>A (p.Gly216=) | |
| X | g.121048332T>C | CA518461154 | GLUD2 | c.648T>C (p.Gly216=) | |
| X | g.121048332T>G | CA518461155 | GLUD2 | c.648T>G (p.Gly216=) | |
| X | g.121048333C>A | CA414410057 | GLUD2 | c.649C>A (p.Pro217Thr) | |
| X | g.121048333C>G | CA414410056 | GLUD2 | c.649C>G (p.Pro217Ala) | |
| X | g.121048333C>T | CA414410055 | GLUD2 | c.649C>T (p.Pro217Ser) | |
| X | g.121048334C>A | CA414410058 | GLUD2 | c.650C>A (p.Pro217His) | |
| X | g.121048334C>G | CA414410059 | GLUD2 | c.650C>G (p.Pro217Arg) | |
| X | g.121048334C>T | CA414410060 | GLUD2 | c.650C>T (p.Pro217Leu) | |
| X | g.121048335T>A | CA518461156 | GLUD2 | c.651T>A (p.Pro217=) | |
| X | g.121048335T>C | CA518461157 | GLUD2 | c.651T>C (p.Pro217=) | |
| X | g.121048335T>G | CA518461158 | GLUD2 | c.651T>G (p.Pro217=) | |
| X | g.121048336G>A | CA414410061 | GLUD2 | c.652G>A (p.Gly218Ser) | |
| X | g.121048336G>C | CA414410062 | GLUD2 | c.652G>C (p.Gly218Arg) | |
| X | g.121048336G>T | CA414410063 | GLUD2 | c.652G>T (p.Gly218Cys) | |
| X | g.121048337G>A | CA414410064 | GLUD2 | c.653G>A (p.Gly218Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048337G>C | CA414410065 | GLUD2 | c.653G>C (p.Gly218Ala) | |
| X | g.121048337G= | CA2455035113 | GLUD2 | c.653G= (p.Gly218=) | |
| X | g.121048337G>T | CA414410066 | GLUD2 | c.653G>T (p.Gly218Val) | gnomAD v4 |
| X | g.121048338C>A | CA10506552 | GLUD2 | c.654C>A (p.Gly218=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048338C= | CA2455035114 | GLUD2 | c.654C= (p.Gly218=) | |
| X | g.121048338C>G | CA518461162 | GLUD2 | c.654C>G (p.Gly218=) | gnomAD v4 |
| X | g.121048338C>T | CA518461163 | GLUD2 | c.654C>T (p.Gly218=) | |
| X | g.121048339G>A | CA10506553 | GLUD2 | c.655G>A (p.Val219Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.121048339G>C | CA414410067 | GLUD2 | c.655G>C (p.Val219Leu) | |
| X | g.121048339G= | CA2455035115 | GLUD2 | c.655G= (p.Val219=) | |
| X | g.121048339G>T | CA414410068 | GLUD2 | c.655G>T (p.Val219Phe) | |
| X | g.121048340T>A | CA414410070 | GLUD2 | c.656T>A (p.Val219Asp) | |
| X | g.121048340T>C | CA10506554 | GLUD2 | c.656T>C (p.Val219Ala) | dbSNP ExAC gnomAD v2 |
| X | g.121048340T>G | CA414410069 | GLUD2 | c.656T>G (p.Val219Gly) | |
| X | g.121048340T= | CA2455035116 | GLUD2 | c.656T= (p.Val219=) | |
| X | g.121048341T>A | CA518461164 | GLUD2 | c.657T>A (p.Val219=) | |
| X | g.121048341T>C | CA518461166 | GLUD2 | c.657T>C (p.Val219=) | |
| X | g.121048341T>G | CA518461167 | GLUD2 | c.657T>G (p.Val219=) | |
| X | g.121048342G>A | CA414410071 | GLUD2 | c.658G>A (p.Asp220Asn) | |
| X | g.121048342G>C | CA414410072 | GLUD2 | c.658G>C (p.Asp220His) | |
| X | g.121048342G>T | CA414410073 | GLUD2 | c.658G>T (p.Asp220Tyr) | |
| X | g.121048343A>C | CA414410074 | GLUD2 | c.659A>C (p.Asp220Ala) | |
| X | g.121048343A>G | CA414410075 | GLUD2 | c.659A>G (p.Asp220Gly) | |
| X | g.121048343A>T | CA414410076 | GLUD2 | c.659A>T (p.Asp220Val) | |
| X | g.121048344T>A | CA414410077 | GLUD2 | c.660T>A (p.Asp220Glu) | |
| X | g.121048344T>C | CA518461168 | GLUD2 | c.660T>C (p.Asp220=) | |
| X | g.121048344T>G | CA414410078 | GLUD2 | c.660T>G (p.Asp220Glu) | |
| X | g.121048345G>A | CA414410079 | GLUD2 | c.661G>A (p.Val221Met) | |
| X | g.121048345G>C | CA414410080 | GLUD2 | c.661G>C (p.Val221Leu) | |
| X | g.121048345G>T | CA414410081 | GLUD2 | c.661G>T (p.Val221Leu) | |
| X | g.121048346T>A | CA414410082 | GLUD2 | c.662T>A (p.Val221Glu) | |
| X | g.121048346T>C | CA414410083 | GLUD2 | c.662T>C (p.Val221Ala) | |
| X | g.121048346T>G | CA414410084 | GLUD2 | c.662T>G (p.Val221Gly) | |
| X | g.121048347G>A | CA518461170 | GLUD2 | c.663G>A (p.Val221=) | |
| X | g.121048347G>C | CA518461171 | GLUD2 | c.663G>C (p.Val221=) | |
| X | g.121048347G= | CA2455035117 | GLUD2 | c.663G= (p.Val221=) | |
| X | g.121048347G>T | CA518461172 | GLUD2 | c.663G>T (p.Val221=) | dbSNP gnomAD v4 |
| X | g.121048348C>A | CA414410086 | GLUD2 | c.664C>A (p.Pro222Thr) | |
| X | g.121048348C= | CA2455035118 | GLUD2 | c.664C= (p.Pro222=) | |
| X | g.121048348C>G | CA414410087 | GLUD2 | c.664C>G (p.Pro222Ala) | |
| X | g.121048348C>T | CA414410085 | GLUD2 | c.664C>T (p.Pro222Ser) | dbSNP gnomAD v4 |
| X | g.121048349C>A | CA414410088 | GLUD2 | c.665C>A (p.Pro222His) | |
| X | g.121048349C>G | CA414410089 | GLUD2 | c.665C>G (p.Pro222Arg) | |
| X | g.121048349C>T | CA414410090 | GLUD2 | c.665C>T (p.Pro222Leu) | |
| X | g.121048350T>A | CA518461175 | GLUD2 | c.666T>A (p.Pro222=) | |
| X | g.121048350T>C | CA518461174 | GLUD2 | c.666T>C (p.Pro222=) | |
| X | g.121048350T>G | CA518461173 | GLUD2 | c.666T>G (p.Pro222=) | |
| X | g.121048351G>A | CA414410091 | GLUD2 | c.667G>A (p.Ala223Thr) | |
| X | g.121048351G>C | CA414410092 | GLUD2 | c.667G>C (p.Ala223Pro) | |
| X | g.121048351G>T | CA414410093 | GLUD2 | c.667G>T (p.Ala223Ser) | |
| X | g.121048352C>A | CA414410094 | GLUD2 | c.668C>A (p.Ala223Asp) | dbSNP |
| X | g.121048352C= | CA2455035119 | GLUD2 | c.668C= (p.Ala223=) | |
| X | g.121048352C>G | CA414410095 | GLUD2 | c.668C>G (p.Ala223Gly) | |
| X | g.121048352C>T | CA414410096 | GLUD2 | c.668C>T (p.Ala223Val) | |
| X | g.121048353T>A | CA518461181 | GLUD2 | c.669T>A (p.Ala223=) | |
| X | g.121048353T>C | CA518461180 | GLUD2 | c.669T>C (p.Ala223=) | dbSNP gnomAD v4 |
| X | g.121048353T>G | CA518461178 | GLUD2 | c.669T>G (p.Ala223=) | |
| X | g.121048353T= | CA2455035120 | GLUD2 | c.669T= (p.Ala223=) | |
| X | g.121048354C>A | CA414410097 | GLUD2 | c.670C>A (p.Pro224Thr) | |
| X | g.121048354C>G | CA414410098 | GLUD2 | c.670C>G (p.Pro224Ala) | |
| X | g.121048354C>T | CA414410099 | GLUD2 | c.670C>T (p.Pro224Ser) | |
| X | g.121048355C>A | CA414410102 | GLUD2 | c.671C>A (p.Pro224Gln) | |
| X | g.121048355C>G | CA414410100 | GLUD2 | c.671C>G (p.Pro224Arg) | |
| X | g.121048355C>T | CA414410101 | GLUD2 | c.671C>T (p.Pro224Leu) | |
| X | g.121048356A= | CA2455035121 | GLUD2 | c.672A= (p.Pro224=) | |
| X | g.121048356A>C | CA518461182 | GLUD2 | c.672A>C (p.Pro224=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048356A>G | CA518461184 | GLUD2 | c.672A>G (p.Pro224=) | dbSNP gnomAD v4 |
| X | g.121048356A>T | CA518461183 | GLUD2 | c.672A>T (p.Pro224=) | |
| X | g.121048357G>A | CA414410103 | GLUD2 | c.673G>A (p.Asp225Asn) | |
| X | g.121048357G>C | CA414410104 | GLUD2 | c.673G>C (p.Asp225His) | |
| X | g.121048357G= | CA2455035122 | GLUD2 | c.673G= (p.Asp225=) | |
| X | g.121048357G>T | CA10506555 | GLUD2 | c.673G>T (p.Asp225Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048358A>C | CA414410105 | GLUD2 | c.674A>C (p.Asp225Ala) | |
| X | g.121048358A>G | CA414410106 | GLUD2 | c.674A>G (p.Asp225Gly) | |
| X | g.121048358A>T | CA414410107 | GLUD2 | c.674A>T (p.Asp225Val) | |
| X | g.121048359C>A | CA414410108 | GLUD2 | c.675C>A (p.Asp225Glu) | |
| X | g.121048359C>G | CA414410109 | GLUD2 | c.675C>G (p.Asp225Glu) | |
| X | g.121048359C>T | CA518461185 | GLUD2 | c.675C>T (p.Asp225=) | |
| X | g.121048360A= | CA2455035123 | GLUD2 | c.676A= (p.Met226=) | |
| X | g.121048360A>C | CA414410110 | GLUD2 | c.676A>C (p.Met226Leu) | |
| X | g.121048360A>G | CA10506556 | GLUD2 | c.676A>G (p.Met226Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048360A>T | CA414410111 | GLUD2 | c.676A>T (p.Met226Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048361T>A | CA414410114 | GLUD2 | c.677T>A (p.Met226Lys) | |
| X | g.121048361T>C | CA414410113 | GLUD2 | c.677T>C (p.Met226Thr) | ClinVar dbSNP |
| X | g.121048361T>G | CA414410112 | GLUD2 | c.677T>G (p.Met226Arg) | |
| X | g.121048361T= | CA2455035124 | GLUD2 | c.677T= (p.Met226=) | |
| X | g.121048362G>A | CA414410115 | GLUD2 | c.678G>A (p.Met226Ile) | |
| X | g.121048362G>C | CA414410117 | GLUD2 | c.678G>C (p.Met226Ile) | |
| X | g.121048362G>T | CA414410116 | GLUD2 | c.678G>T (p.Met226Ile) | |
| X | g.121048363A= | CA2455035125 | GLUD2 | c.679A= (p.Asn227=) | |
| X | g.121048363A>C | CA414410118 | GLUD2 | c.679A>C (p.Asn227His) | |
| X | g.121048363A>G | CA414410120 | GLUD2 | c.679A>G (p.Asn227Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048363A>T | CA414410119 | GLUD2 | c.679A>T (p.Asn227Tyr) | |
| X | g.121048364A= | CA2455035126 | GLUD2 | c.680A= (p.Asn227=) | |
| X | g.121048364A>C | CA414410121 | GLUD2 | c.680A>C (p.Asn227Thr) | |
| X | g.121048364A>G | CA335040645 | GLUD2 | c.680A>G (p.Asn227Ser) | dbSNP gnomAD v4 COSMIC |
| X | g.121048364A>T | CA414410122 | GLUD2 | c.680A>T (p.Asn227Ile) | |
| X | g.121048365C>A | CA414410123 | GLUD2 | c.681C>A (p.Asn227Lys) | |
| X | g.121048365C>G | CA414410124 | GLUD2 | c.681C>G (p.Asn227Lys) | |
| X | g.121048365C>T | CA518461191 | GLUD2 | c.681C>T (p.Asn227=) | gnomAD v4 |
| X | g.121048366A>C | CA414410127 | GLUD2 | c.682A>C (p.Thr228Pro) | |
| X | g.121048366A>G | CA414410126 | GLUD2 | c.682A>G (p.Thr228Ala) | |
| X | g.121048366A>T | CA414410125 | GLUD2 | c.682A>T (p.Thr228Ser) | |
| X | g.121048367C>A | CA414410128 | GLUD2 | c.683C>A (p.Thr228Lys) | |
| X | g.121048367C>G | CA414410129 | GLUD2 | c.683C>G (p.Thr228Arg) | |
| X | g.121048367C>T | CA414410130 | GLUD2 | c.683C>T (p.Thr228Ile) | gnomAD v4 |
| X | g.121048368A>C | CA518461193 | GLUD2 | c.684A>C (p.Thr228=) | |
| X | g.121048368A>G | CA518461194 | GLUD2 | c.684A>G (p.Thr228=) | |
| X | g.121048368A>T | CA518461195 | GLUD2 | c.684A>T (p.Thr228=) | |
| X | g.121048369G>A | CA414410131 | GLUD2 | c.685G>A (p.Gly229Ser) | |
| X | g.121048369G>C | CA414410132 | GLUD2 | c.685G>C (p.Gly229Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048369G= | CA2455035127 | GLUD2 | c.685G= (p.Gly229=) | |
| X | g.121048369G>T | CA414410133 | GLUD2 | c.685G>T (p.Gly229Cys) | |
| X | g.121048370G>A | CA414410134 | GLUD2 | c.686G>A (p.Gly229Asp) | |
| X | g.121048370G>C | CA414410136 | GLUD2 | c.686G>C (p.Gly229Ala) | |
| X | g.121048370G>T | CA414410135 | GLUD2 | c.686G>T (p.Gly229Val) | |
| X | g.121048371T>A | CA518461196 | GLUD2 | c.687T>A (p.Gly229=) | |
| X | g.121048371T>C | CA518461200 | GLUD2 | c.687T>C (p.Gly229=) | |
| X | g.121048371T>G | CA518461197 | GLUD2 | c.687T>G (p.Gly229=) | |
| X | g.121048372G>A | CA414410137 | GLUD2 | c.688G>A (p.Glu230Lys) | |
| X | g.121048372G>C | CA414410138 | GLUD2 | c.688G>C (p.Glu230Gln) | |
| X | g.121048372G>T | CA414410139 | GLUD2 | c.688G>T (p.Glu230Ter) | |
| X | g.121048373A= | CA2455035128 | GLUD2 | c.689A= (p.Glu230=) | |
| X | g.121048373A>C | CA414410140 | GLUD2 | c.689A>C (p.Glu230Ala) | |
| X | g.121048373A>G | CA414410141 | GLUD2 | c.689A>G (p.Glu230Gly) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.121048373A>T | CA414410142 | GLUD2 | c.689A>T (p.Glu230Val) | |
| X | g.121048374G>A | CA518461202 | GLUD2 | c.690G>A (p.Glu230=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048374G>C | CA414410143 | GLUD2 | c.690G>C (p.Glu230Asp) | |
| X | g.121048374G= | CA2455035129 | GLUD2 | c.690G= (p.Glu230=) | |
| X | g.121048374G>T | CA414410144 | GLUD2 | c.690G>T (p.Glu230Asp) | |
| X | g.121048375C>A | CA10506557 | GLUD2 | c.691C>A (p.Arg231=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048375C= | CA2455035130 | GLUD2 | c.691C= (p.Arg231=) | |
| X | g.121048375C>G | CA414410145 | GLUD2 | c.691C>G (p.Arg231Gly) | |
| X | g.121048375C>T | CA10506558 | GLUD2 | c.691C>T (p.Arg231Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048376G>A | CA414410146 | GLUD2 | c.692G>A (p.Arg231Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.121048376G>C | CA414410148 | GLUD2 | c.692G>C (p.Arg231Pro) | |
| X | g.121048376G= | CA2455035131 | GLUD2 | c.692G= (p.Arg231=) | |
| X | g.121048376G>T | CA414410147 | GLUD2 | c.692G>T (p.Arg231Leu) | |
| X | g.121048377G>A | CA10506559 | GLUD2 | c.693G>A (p.Arg231=) | dbSNP ExAC gnomAD v4 |
| X | g.121048377G>C | CA518461207 | GLUD2 | c.693G>C (p.Arg231=) | |
| X | g.121048377G= | CA2455035132 | GLUD2 | c.693G= (p.Arg231=) | |
| X | g.121048377G>T | CA518461208 | GLUD2 | c.693G>T (p.Arg231=) | |
| X | g.121048378G>A | CA414410149 | GLUD2 | c.694G>A (p.Glu232Lys) | |
| X | g.121048378G>C | CA414410150 | GLUD2 | c.694G>C (p.Glu232Gln) | |
| X | g.121048378G>T | CA414410151 | GLUD2 | c.694G>T (p.Glu232Ter) | |
| X | g.121048379A>C | CA414410152 | GLUD2 | c.695A>C (p.Glu232Ala) | |
| X | g.121048379A>G | CA414410153 | GLUD2 | c.695A>G (p.Glu232Gly) | |
| X | g.121048379A>T | CA414410154 | GLUD2 | c.695A>T (p.Glu232Val) | |
| X | g.121048380G>A | CA335040646 | GLUD2 | c.696G>A (p.Glu232=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048380G>C | CA414410155 | GLUD2 | c.696G>C (p.Glu232Asp) | |
| X | g.121048380G= | CA2455035133 | GLUD2 | c.696G= (p.Glu232=) | |
| X | g.121048380G>T | CA414410156 | GLUD2 | c.696G>T (p.Glu232Asp) | |
| X | g.121048381A>C | CA414410157 | GLUD2 | c.697A>C (p.Met233Leu) | |
| X | g.121048381A>G | CA414410158 | GLUD2 | c.697A>G (p.Met233Val) | |
| X | g.121048381A>T | CA414410159 | GLUD2 | c.697A>T (p.Met233Leu) | |
| X | g.121048382T>A | CA414410160 | GLUD2 | c.698T>A (p.Met233Lys) | |
| X | g.121048382T>C | CA414410162 | GLUD2 | c.698T>C (p.Met233Thr) | |
| X | g.121048382T>G | CA414410161 | GLUD2 | c.698T>G (p.Met233Arg) | |
| X | g.121048383G>A | CA414410163 | GLUD2 | c.699G>A (p.Met233Ile) | |
| X | g.121048383G>C | CA414410164 | GLUD2 | c.699G>C (p.Met233Ile) | |
| X | g.121048383G>T | CA414410165 | GLUD2 | c.699G>T (p.Met233Ile) | |
| X | g.121048384T>A | CA414410166 | GLUD2 | c.700T>A (p.Ser234Thr) | |
| X | g.121048384T>C | CA414410167 | GLUD2 | c.700T>C (p.Ser234Pro) | |
| X | g.121048384T>G | CA414410168 | GLUD2 | c.700T>G (p.Ser234Ala) | |
| X | g.121048385C>A | CA414410169 | GLUD2 | c.701C>A (p.Ser234Tyr) | |
| X | g.121048385C>G | CA414410170 | GLUD2 | c.701C>G (p.Ser234Cys) | |
| X | g.121048385C>T | CA414410171 | GLUD2 | c.701C>T (p.Ser234Phe) | |
| X | g.121048386C>A | CA518461215 | GLUD2 | c.702C>A (p.Ser234=) | |
| X | g.121048386C>G | CA518461216 | GLUD2 | c.702C>G (p.Ser234=) | |
| X | g.121048386C>T | CA518461217 | GLUD2 | c.702C>T (p.Ser234=) | |
| X | g.121048387T>A | CA414410174 | GLUD2 | c.703T>A (p.Trp235Arg) | |
| X | g.121048387T>C | CA414410173 | GLUD2 | c.703T>C (p.Trp235Arg) | |
| X | g.121048387T>G | CA414410172 | GLUD2 | c.703T>G (p.Trp235Gly) | |
| X | g.121048388G>A | CA414410175 | GLUD2 | c.704G>A (p.Trp235Ter) | |
| X | g.121048388G>C | CA414410177 | GLUD2 | c.704G>C (p.Trp235Ser) | |
| X | g.121048388G>T | CA414410176 | GLUD2 | c.704G>T (p.Trp235Leu) | |
| X | g.121048389G>A | CA414410178 | GLUD2 | c.705G>A (p.Trp235Ter) | |
| X | g.121048389G>C | CA414410179 | GLUD2 | c.705G>C (p.Trp235Cys) | |
| X | g.121048389G>T | CA414410180 | GLUD2 | c.705G>T (p.Trp235Cys) | |
| X | g.121048390A= | CA2455035134 | GLUD2 | c.706A= (p.Ile236=) | |
| X | g.121048390A>C | CA414410181 | GLUD2 | c.706A>C (p.Ile236Leu) | dbSNP |
| X | g.121048390A>G | CA414410182 | GLUD2 | c.706A>G (p.Ile236Val) | |
| X | g.121048390A>T | CA414410183 | GLUD2 | c.706A>T (p.Ile236Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048391T>A | CA414410184 | GLUD2 | c.707T>A (p.Ile236Asn) | |
| X | g.121048391T>C | CA414410185 | GLUD2 | c.707T>C (p.Ile236Thr) | |
| X | g.121048391T>G | CA414410186 | GLUD2 | c.707T>G (p.Ile236Ser) | |
| X | g.121048392T>A | CA518461220 | GLUD2 | c.708T>A (p.Ile236=) | |
| X | g.121048392T>C | CA335040647 | GLUD2 | c.708T>C (p.Ile236=) | dbSNP gnomAD v4 COSMIC |
| X | g.121048392T>G | CA414410187 | GLUD2 | c.708T>G (p.Ile236Met) | |
| X | g.121048392T= | CA2455035135 | GLUD2 | c.708T= (p.Ile236=) | |
| X | g.121048393G>A | CA414410190 | GLUD2 | c.709G>A (p.Ala237Thr) | gnomAD v4 |
| X | g.121048393G>C | CA414410189 | GLUD2 | c.709G>C (p.Ala237Pro) | |
| X | g.121048393G>T | CA414410188 | GLUD2 | c.709G>T (p.Ala237Ser) | |
| X | g.121048394C>A | CA414410191 | GLUD2 | c.710C>A (p.Ala237Asp) | gnomAD v4 |
| X | g.121048394C>G | CA414410192 | GLUD2 | c.710C>G (p.Ala237Gly) | |
| X | g.121048394C>T | CA414410193 | GLUD2 | c.710C>T (p.Ala237Val) | |
| X | g.121048395T>A | CA518461223 | GLUD2 | c.711T>A (p.Ala237=) | |
| X | g.121048395T>C | CA518461222 | GLUD2 | c.711T>C (p.Ala237=) | COSMIC |
| X | g.121048395T>G | CA518461221 | GLUD2 | c.711T>G (p.Ala237=) | |
| X | g.121048396G>A | CA10506560 | GLUD2 | c.712G>A (p.Asp238Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048396G>C | CA414410194 | GLUD2 | c.712G>C (p.Asp238His) | gnomAD v4 |
| X | g.121048396G= | CA2455035136 | GLUD2 | c.712G= (p.Asp238=) | |
| X | g.121048396G>T | CA414410195 | GLUD2 | c.712G>T (p.Asp238Tyr) | |
| X | g.121048397A>C | CA414410196 | GLUD2 | c.713A>C (p.Asp238Ala) | |
| X | g.121048397A>G | CA414410197 | GLUD2 | c.713A>G (p.Asp238Gly) | |
| X | g.121048397A>T | CA414410198 | GLUD2 | c.713A>T (p.Asp238Val) | |
| X | g.121048398T>A | CA414410199 | GLUD2 | c.714T>A (p.Asp238Glu) | |
| X | g.121048398T>C | CA518461226 | GLUD2 | c.714T>C (p.Asp238=) | |
| X | g.121048398T>G | CA414410200 | GLUD2 | c.714T>G (p.Asp238Glu) | |
| X | g.121048399A= | CA2455035137 | GLUD2 | c.715A= (p.Thr239=) | |
| X | g.121048399A>C | CA414410203 | GLUD2 | c.715A>C (p.Thr239Pro) | |
| X | g.121048399A>G | CA414410202 | GLUD2 | c.715A>G (p.Thr239Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048399A>T | CA414410201 | GLUD2 | c.715A>T (p.Thr239Ser) | |
| X | g.121048400C>A | CA414410204 | GLUD2 | c.716C>A (p.Thr239Asn) | dbSNP COSMIC |
| X | g.121048400C= | CA2455035138 | GLUD2 | c.716C= (p.Thr239=) | |
| X | g.121048400C>G | CA414410205 | GLUD2 | c.716C>G (p.Thr239Ser) | |
| X | g.121048400C>T | CA414410206 | GLUD2 | c.716C>T (p.Thr239Ile) | |
| X | g.121048401C>A | CA518461229 | GLUD2 | c.717C>A (p.Thr239=) | COSMIC |
| X | g.121048401C>G | CA518461230 | GLUD2 | c.717C>G (p.Thr239=) | |
| X | g.121048401C>T | CA518461231 | GLUD2 | c.717C>T (p.Thr239=) | |
| X | g.121048402T>A | CA414410207 | GLUD2 | c.718T>A (p.Tyr240Asn) | |
| X | g.121048402T>C | CA414410208 | GLUD2 | c.718T>C (p.Tyr240His) | |
| X | g.121048402T>G | CA414410209 | GLUD2 | c.718T>G (p.Tyr240Asp) | |
| X | g.121048403A>C | CA414410212 | GLUD2 | c.719A>C (p.Tyr240Ser) | gnomAD v4 |
| X | g.121048403A>G | CA414410210 | GLUD2 | c.719A>G (p.Tyr240Cys) | |
| X | g.121048403A>T | CA414410211 | GLUD2 | c.719A>T (p.Tyr240Phe) | |
| X | g.121048404T>A | CA414410213 | GLUD2 | c.720T>A (p.Tyr240Ter) | |
| X | g.121048404T>C | CA518461235 | GLUD2 | c.720T>C (p.Tyr240=) | |
| X | g.121048404T>G | CA414410214 | GLUD2 | c.720T>G (p.Tyr240Ter) | |
| X | g.121048405G>A | CA414410215 | GLUD2 | c.721G>A (p.Ala241Thr) | COSMIC |
| X | g.121048405G>C | CA414410216 | GLUD2 | c.721G>C (p.Ala241Pro) | |
| X | g.121048405G= | CA2455035139 | GLUD2 | c.721G= (p.Ala241=) | |
| X | g.121048405G>T | CA414410217 | GLUD2 | c.721G>T (p.Ala241Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |