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.121048407C>A | CA518461239 | GLUD2 | c.723C>A (p.Ala241=) | |
| X | g.121048407C>G | CA518461240 | GLUD2 | c.723C>G (p.Ala241=) | |
| X | g.121048407C>T | CA518461241 | GLUD2 | c.723C>T (p.Ala241=) | |
| X | g.121048408A>C | CA414410221 | GLUD2 | c.724A>C (p.Ser242Arg) | |
| X | g.121048408A>G | CA414410222 | GLUD2 | c.724A>G (p.Ser242Gly) | |
| X | g.121048408A>T | CA414410223 | GLUD2 | c.724A>T (p.Ser242Cys) | |
| X | g.121048409G>A | CA414410224 | GLUD2 | c.725G>A (p.Ser242Asn) | |
| X | g.121048409G>C | CA414410225 | GLUD2 | c.725G>C (p.Ser242Thr) | |
| X | g.121048409G>T | CA414410226 | GLUD2 | c.725G>T (p.Ser242Ile) | |
| X | g.121048410C>A | CA414410227 | GLUD2 | c.726C>A (p.Ser242Arg) | |
| X | g.121048410C>G | CA414410228 | GLUD2 | c.726C>G (p.Ser242Arg) | |
| X | g.121048410C>T | CA518461243 | GLUD2 | c.726C>T (p.Ser242=) | |
| X | g.121048411A>C | CA414410229 | GLUD2 | c.727A>C (p.Thr243Pro) | |
| X | g.121048411A>G | CA414410230 | GLUD2 | c.727A>G (p.Thr243Ala) | |
| X | g.121048411A>T | CA414410231 | GLUD2 | c.727A>T (p.Thr243Ser) | |
| X | g.121048412C>A | CA414410233 | GLUD2 | c.728C>A (p.Thr243Asn) | |
| X | g.121048412C>G | CA414410234 | GLUD2 | c.728C>G (p.Thr243Ser) | |
| X | g.121048412C>T | CA414410232 | GLUD2 | c.728C>T (p.Thr243Ile) | |
| X | g.121048413C>A | CA518461248 | GLUD2 | c.729C>A (p.Thr243=) | |
| X | g.121048413C>G | CA518461249 | GLUD2 | c.729C>G (p.Thr243=) | |
| X | g.121048413C>T | CA518461247 | GLUD2 | c.729C>T (p.Thr243=) | |
| X | g.121048414A= | CA2455035141 | GLUD2 | c.730A= (p.Ile244=) | |
| X | g.121048414A>C | CA335040648 | GLUD2 | c.730A>C (p.Ile244Leu) | dbSNP |
| X | g.121048414A>G | CA414410235 | GLUD2 | c.730A>G (p.Ile244Val) | gnomAD v4 |
| X | g.121048414A>T | CA414410236 | GLUD2 | c.730A>T (p.Ile244Leu) | |
| X | g.121048415T>A | CA414410237 | GLUD2 | c.731T>A (p.Ile244Lys) | |
| X | g.121048415T>C | CA414410238 | GLUD2 | c.731T>C (p.Ile244Thr) | gnomAD v4 |
| X | g.121048415T>G | CA414410239 | GLUD2 | c.731T>G (p.Ile244Arg) | |
| X | g.121048416A>C | CA518461252 | GLUD2 | c.732A>C (p.Ile244=) | |
| X | g.121048416A>G | CA414410240 | GLUD2 | c.732A>G (p.Ile244Met) | gnomAD v4 |
| X | g.121048416A>T | CA518461253 | GLUD2 | c.732A>T (p.Ile244=) | |
| X | g.121048417G>A | CA414410241 | GLUD2 | c.733G>A (p.Gly245Arg) | |
| X | g.121048417G>C | CA414410242 | GLUD2 | c.733G>C (p.Gly245Arg) | |
| X | g.121048417G>T | CA414410243 | GLUD2 | c.733G>T (p.Gly245Trp) | |
| X | g.121048418G>A | CA414410244 | GLUD2 | c.734G>A (p.Gly245Glu) | |
| X | g.121048418G>C | CA414410245 | GLUD2 | c.734G>C (p.Gly245Ala) | |
| X | g.121048418G>T | CA414410246 | GLUD2 | c.734G>T (p.Gly245Val) | |
| X | g.121048419G>A | CA518461257 | GLUD2 | c.735G>A (p.Gly245=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048419G>C | CA518461255 | GLUD2 | c.735G>C (p.Gly245=) | |
| X | g.121048419G= | CA2455035142 | GLUD2 | c.735G= (p.Gly245=) | |
| X | g.121048419G>T | CA518461256 | GLUD2 | c.735G>T (p.Gly245=) | |
| X | g.121048420C>A | CA414410247 | GLUD2 | c.736C>A (p.His246Asn) | gnomAD v4 |
| X | g.121048420C>G | CA414410248 | GLUD2 | c.736C>G (p.His246Asp) | |
| X | g.121048420C>T | CA414410249 | GLUD2 | c.736C>T (p.His246Tyr) | gnomAD v4 |
| X | g.121048421A>C | CA414410250 | GLUD2 | c.737A>C (p.His246Pro) | gnomAD v4 |
| X | g.121048421A>G | CA414410252 | GLUD2 | c.737A>G (p.His246Arg) | |
| X | g.121048421A>T | CA414410251 | GLUD2 | c.737A>T (p.His246Leu) | |
| X | g.121048422C>A | CA414410253 | GLUD2 | c.738C>A (p.His246Gln) | |
| X | g.121048422C>G | CA414410254 | GLUD2 | c.738C>G (p.His246Gln) | |
| X | g.121048422C>T | CA518461261 | GLUD2 | c.738C>T (p.His246=) | |
| X | g.121048423T>A | CA414410255 | GLUD2 | c.739T>A (p.Tyr247Asn) | |
| X | g.121048423T>C | CA414410256 | GLUD2 | c.739T>C (p.Tyr247His) | |
| X | g.121048423T>G | CA414410257 | GLUD2 | c.739T>G (p.Tyr247Asp) | gnomAD v4 |
| X | g.121048424A>C | CA414410258 | GLUD2 | c.740A>C (p.Tyr247Ser) | |
| X | g.121048424A>G | CA414410259 | GLUD2 | c.740A>G (p.Tyr247Cys) | gnomAD v4 |
| X | g.121048424A>T | CA414410260 | GLUD2 | c.740A>T (p.Tyr247Phe) | |
| X | g.121048425T>A | CA414410261 | GLUD2 | c.741T>A (p.Tyr247Ter) | |
| X | g.121048425T>C | CA518461265 | GLUD2 | c.741T>C (p.Tyr247=) | |
| X | g.121048425T>G | CA414410262 | GLUD2 | c.741T>G (p.Tyr247Ter) | gnomAD v4 |
| X | g.121048426G>A | CA414410264 | GLUD2 | c.742G>A (p.Asp248Asn) | |
| X | g.121048426G>C | CA414410265 | GLUD2 | c.742G>C (p.Asp248His) | |
| X | g.121048426G>T | CA414410263 | GLUD2 | c.742G>T (p.Asp248Tyr) | |
| X | g.121048427A= | CA2455035143 | GLUD2 | c.743A= (p.Asp248=) | |
| X | g.121048427A>C | CA10506561 | GLUD2 | c.743A>C (p.Asp248Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048427A>G | CA414410266 | GLUD2 | c.743A>G (p.Asp248Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048427A>T | CA414410268 | GLUD2 | c.743A>T (p.Asp248Val) | |
| X | g.121048428T>A | CA414410270 | GLUD2 | c.744T>A (p.Asp248Glu) | dbSNP gnomAD v4 |
| X | g.121048428T>C | CA518461269 | GLUD2 | c.744T>C (p.Asp248=) | dbSNP |
| X | g.121048428T>G | CA414410271 | GLUD2 | c.744T>G (p.Asp248Glu) | |
| X | g.121048428T= | CA2455035144 | GLUD2 | c.744T= (p.Asp248=) | |
| X | g.121048429A>C | CA414410272 | GLUD2 | c.745A>C (p.Ile249Leu) | |
| X | g.121048429A>G | CA414410273 | GLUD2 | c.745A>G (p.Ile249Val) | |
| X | g.121048429A>T | CA414410274 | GLUD2 | c.745A>T (p.Ile249Phe) | |
| X | g.121048430T>A | CA414410275 | GLUD2 | c.746T>A (p.Ile249Asn) | |
| X | g.121048430T>C | CA414410276 | GLUD2 | c.746T>C (p.Ile249Thr) | |
| X | g.121048430T>G | CA414410277 | GLUD2 | c.746T>G (p.Ile249Ser) | |
| X | g.121048431T>A | CA518461270 | GLUD2 | c.747T>A (p.Ile249=) | |
| X | g.121048431T>C | CA518461271 | GLUD2 | c.747T>C (p.Ile249=) | |
| X | g.121048431T>G | CA414410278 | GLUD2 | c.747T>G (p.Ile249Met) | |
| X | g.121048432A= | CA2455035145 | GLUD2 | c.748A= (p.Asn250=) | |
| X | g.121048432A>C | CA414410280 | GLUD2 | c.748A>C (p.Asn250His) | |
| X | g.121048432A>G | CA10506562 | GLUD2 | c.748A>G (p.Asn250Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048432A>T | CA414410279 | GLUD2 | c.748A>T (p.Asn250Tyr) | |
| X | g.121048433A>C | CA414410281 | GLUD2 | c.749A>C (p.Asn250Thr) | |
| X | g.121048433A>G | CA414410282 | GLUD2 | c.749A>G (p.Asn250Ser) | gnomAD v4 |
| X | g.121048433A>T | CA414410283 | GLUD2 | c.749A>T (p.Asn250Ile) | |
| X | g.121048434T>A | CA414410284 | GLUD2 | c.750T>A (p.Asn250Lys) | |
| X | g.121048434T>C | CA518461273 | GLUD2 | c.750T>C (p.Asn250=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048434T>G | CA414410285 | GLUD2 | c.750T>G (p.Asn250Lys) | |
| X | g.121048434T= | CA2455035146 | GLUD2 | c.750T= (p.Asn250=) | |
| X | g.121048435G>A | CA414410288 | GLUD2 | c.751G>A (p.Ala251Thr) | gnomAD v4 |
| X | g.121048435G>C | CA414410287 | GLUD2 | c.751G>C (p.Ala251Pro) | |
| X | g.121048435G>T | CA414410286 | GLUD2 | c.751G>T (p.Ala251Ser) | |
| X | g.121048436C>A | CA414410289 | GLUD2 | c.752C>A (p.Ala251Glu) | |
| X | g.121048436C>G | CA414410290 | GLUD2 | c.752C>G (p.Ala251Gly) | |
| X | g.121048436C>T | CA414410291 | GLUD2 | c.752C>T (p.Ala251Val) | |
| X | g.121048437A= | CA2455035147 | GLUD2 | c.753A= (p.Ala251=) | |
| X | g.121048437A>C | CA518461276 | GLUD2 | c.753A>C (p.Ala251=) | |
| X | g.121048437A>G | CA518461277 | GLUD2 | c.753A>G (p.Ala251=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048437A>T | CA518461279 | GLUD2 | c.753A>T (p.Ala251=) | |
| X | g.121048438C>A | CA414410292 | GLUD2 | c.754C>A (p.His252Asn) | COSMIC |
| X | g.121048438C>G | CA414410293 | GLUD2 | c.754C>G (p.His252Asp) | |
| X | g.121048438C>T | CA414410294 | GLUD2 | c.754C>T (p.His252Tyr) | |
| X | g.121048439A>C | CA414410297 | GLUD2 | c.755A>C (p.His252Pro) | |
| X | g.121048439A>G | CA414410296 | GLUD2 | c.755A>G (p.His252Arg) | |
| X | g.121048439A>T | CA414410295 | GLUD2 | c.755A>T (p.His252Leu) | |
| X | g.121048440del | CA2694607219 | GLUD2 | c.756del (p.His252GlnfsTer?) | gnomAD v4 |
| X | g.121048440C>A | CA414410298 | GLUD2 | c.756C>A (p.His252Gln) | dbSNP |
| X | g.121048440C= | CA2455035148 | GLUD2 | c.756C= (p.His252=) | |
| X | g.121048440C>G | CA414410299 | GLUD2 | c.756C>G (p.His252Gln) | |
| X | g.121048440C>T | CA518461280 | GLUD2 | c.756C>T (p.His252=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.121048441G>A | CA414410300 | GLUD2 | c.757G>A (p.Ala253Thr) | gnomAD v4 COSMIC |
| X | g.121048441G>C | CA414410301 | GLUD2 | c.757G>C (p.Ala253Pro) | |
| X | g.121048441G= | CA2455035149 | GLUD2 | c.757G= (p.Ala253=) | |
| X | g.121048441G>T | CA414410302 | GLUD2 | c.757G>T (p.Ala253Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048442C>A | CA414410303 | GLUD2 | c.758C>A (p.Ala253Asp) | |
| X | g.121048442C>G | CA414410304 | GLUD2 | c.758C>G (p.Ala253Gly) | |
| X | g.121048442C>T | CA414410305 | GLUD2 | c.758C>T (p.Ala253Val) | |
| X | g.121048443C>A | CA518461284 | GLUD2 | c.759C>A (p.Ala253=) | |
| X | g.121048443C>G | CA518461285 | GLUD2 | c.759C>G (p.Ala253=) | |
| X | g.121048443C>T | CA518461286 | GLUD2 | c.759C>T (p.Ala253=) | |
| X | g.121048444T>A | CA414410306 | GLUD2 | c.760T>A (p.Cys254Ser) | |
| X | g.121048444T>C | CA414410307 | GLUD2 | c.760T>C (p.Cys254Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048444T>G | CA414410308 | GLUD2 | c.760T>G (p.Cys254Gly) | |
| X | g.121048444T= | CA2455035150 | GLUD2 | c.760T= (p.Cys254=) | |
| X | g.121048445G>A | CA414410309 | GLUD2 | c.761G>A (p.Cys254Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048445G>C | CA414410310 | GLUD2 | c.761G>C (p.Cys254Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048445G= | CA2455035151 | GLUD2 | c.761G= (p.Cys254=) | |
| X | g.121048445G>T | CA414410311 | GLUD2 | c.761G>T (p.Cys254Phe) | |
| X | g.121048446T>A | CA414410313 | GLUD2 | c.762T>A (p.Cys254Ter) | |
| X | g.121048446T>C | CA518461290 | GLUD2 | c.762T>C (p.Cys254=) | |
| X | g.121048446T>G | CA414410312 | GLUD2 | c.762T>G (p.Cys254Trp) | |
| X | g.121048447G>A | CA414410314 | GLUD2 | c.763G>A (p.Val255Ile) | |
| X | g.121048447G>C | CA414410315 | GLUD2 | c.763G>C (p.Val255Leu) | |
| X | g.121048447G>T | CA414410316 | GLUD2 | c.763G>T (p.Val255Phe) | |
| X | g.121048448T>A | CA414410317 | GLUD2 | c.764T>A (p.Val255Asp) | |
| X | g.121048448T>C | CA414410318 | GLUD2 | c.764T>C (p.Val255Ala) | |
| X | g.121048448T>G | CA414410319 | GLUD2 | c.764T>G (p.Val255Gly) | gnomAD v4 |
| X | g.121048449T>A | CA518461291 | GLUD2 | c.765T>A (p.Val255=) | |
| X | g.121048449T>C | CA518461292 | GLUD2 | c.765T>C (p.Val255=) | |
| X | g.121048449T>G | CA518461293 | GLUD2 | c.765T>G (p.Val255=) | |
| X | g.121048450A>C | CA414410320 | GLUD2 | c.766A>C (p.Thr256Pro) | |
| X | g.121048450A>G | CA414410321 | GLUD2 | c.766A>G (p.Thr256Ala) | |
| X | g.121048450A>T | CA414410322 | GLUD2 | c.766A>T (p.Thr256Ser) | |
| X | g.121048451C>A | CA414410323 | GLUD2 | c.767C>A (p.Thr256Asn) | |
| X | g.121048451C= | CA2455035152 | GLUD2 | c.767C= (p.Thr256=) | |
| X | g.121048451C>G | CA414410324 | GLUD2 | c.767C>G (p.Thr256Ser) | |
| X | g.121048451C>T | CA10506563 | GLUD2 | c.767C>T (p.Thr256Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048452T>A | CA518461294 | GLUD2 | c.768T>A (p.Thr256=) | |
| X | g.121048452T>C | CA518461295 | GLUD2 | c.768T>C (p.Thr256=) | |
| X | g.121048452T>G | CA518461296 | GLUD2 | c.768T>G (p.Thr256=) | |
| X | g.121048453G>A | CA414410326 | GLUD2 | c.769G>A (p.Gly257Ser) | |
| X | g.121048453G>C | CA414410327 | GLUD2 | c.769G>C (p.Gly257Arg) | |
| X | g.121048453G>T | CA414410325 | GLUD2 | c.769G>T (p.Gly257Cys) | |
| X | g.121048454G>A | CA414410328 | GLUD2 | c.770G>A (p.Gly257Asp) | |
| X | g.121048454G>C | CA414410329 | GLUD2 | c.770G>C (p.Gly257Ala) | |
| X | g.121048454G>T | CA414410330 | GLUD2 | c.770G>T (p.Gly257Val) | |
| X | g.121048455T>A | CA518461297 | GLUD2 | c.771T>A (p.Gly257=) | |
| X | g.121048455T>C | CA518461298 | GLUD2 | c.771T>C (p.Gly257=) | |
| X | g.121048455T>G | CA518461299 | GLUD2 | c.771T>G (p.Gly257=) | |
| X | g.121048456A>C | CA414410331 | GLUD2 | c.772A>C (p.Lys258Gln) | |
| X | g.121048456A>G | CA414410332 | GLUD2 | c.772A>G (p.Lys258Glu) | |
| X | g.121048456A>T | CA414410333 | GLUD2 | c.772A>T (p.Lys258Ter) | |
| X | g.121048457A>C | CA414410336 | GLUD2 | c.773A>C (p.Lys258Thr) | |
| X | g.121048457A>G | CA414410334 | GLUD2 | c.773A>G (p.Lys258Arg) | |
| X | g.121048457A>T | CA414410335 | GLUD2 | c.773A>T (p.Lys258Ile) | |
| X | g.121048458A>C | CA414410337 | GLUD2 | c.774A>C (p.Lys258Asn) | |
| X | g.121048458A>G | CA518461301 | GLUD2 | c.774A>G (p.Lys258=) | COSMIC |
| X | g.121048458A>T | CA414410338 | GLUD2 | c.774A>T (p.Lys258Asn) | COSMIC |
| X | g.121048459C>A | CA414410339 | GLUD2 | c.775C>A (p.Pro259Thr) | |
| X | g.121048459C>G | CA414410340 | GLUD2 | c.775C>G (p.Pro259Ala) | |
| X | g.121048459C>T | CA414410341 | GLUD2 | c.775C>T (p.Pro259Ser) | |
| X | g.121048459_121048466delinsCCCATCAG | CA2455035153 | GLUD2 | c.775_782delinsCCCATCAG (p.Pro259=) | |
| X | g.121048460C>A | CA414410342 | GLUD2 | c.776C>A (p.Pro259His) | |
| X | g.121048460C>G | CA414410344 | GLUD2 | c.776C>G (p.Pro259Arg) | |
| X | g.121048460C>T | CA414410343 | GLUD2 | c.776C>T (p.Pro259Leu) | |
| X | g.121048463_121048469del | CA870819221 | GLUD2 | c.779_785del (p.Ile260LysfsTer29) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048461C>A | CA518461302 | GLUD2 | c.777C>A (p.Pro259=) | |
| X | g.121048461C>G | CA518461303 | GLUD2 | c.777C>G (p.Pro259=) | |
| X | g.121048461C>T | CA518461305 | GLUD2 | c.777C>T (p.Pro259=) | |
| X | g.121048462A>C | CA414410345 | GLUD2 | c.778A>C (p.Ile260Leu) | |
| X | g.121048462A>G | CA414410346 | GLUD2 | c.778A>G (p.Ile260Val) | |
| X | g.121048462A>T | CA414410347 | GLUD2 | c.778A>T (p.Ile260Phe) | |
| X | g.121048463T>A | CA414410348 | GLUD2 | c.779T>A (p.Ile260Asn) | |
| X | g.121048463T>C | CA414410349 | GLUD2 | c.779T>C (p.Ile260Thr) | gnomAD v4 |
| X | g.121048463T>G | CA414410350 | GLUD2 | c.779T>G (p.Ile260Ser) | |
| X | g.121048464C>A | CA518461306 | GLUD2 | c.780C>A (p.Ile260=) | |
| X | g.121048464C>G | CA414410351 | GLUD2 | c.780C>G (p.Ile260Met) | |
| X | g.121048464C>T | CA518461307 | GLUD2 | c.780C>T (p.Ile260=) | gnomAD v4 |
| X | g.121048465A>C | CA414410352 | GLUD2 | c.781A>C (p.Ser261Arg) | |
| X | g.121048465A>G | CA414410353 | GLUD2 | c.781A>G (p.Ser261Gly) | |
| X | g.121048465A>T | CA414410354 | GLUD2 | c.781A>T (p.Ser261Cys) | |
| X | g.121048466G>A | CA414410355 | GLUD2 | c.782G>A (p.Ser261Asn) | |
| X | g.121048466G>C | CA414410356 | GLUD2 | c.782G>C (p.Ser261Thr) | |
| X | g.121048466G>T | CA414410357 | GLUD2 | c.782G>T (p.Ser261Ile) | |
| X | g.121048467C>A | CA414410359 | GLUD2 | c.783C>A (p.Ser261Arg) | |
| X | g.121048467C>G | CA414410358 | GLUD2 | c.783C>G (p.Ser261Arg) | |
| X | g.121048467C>T | CA518461311 | GLUD2 | c.783C>T (p.Ser261=) | |
| X | g.121048468C>A | CA414410360 | GLUD2 | c.784C>A (p.Gln262Lys) | |
| X | g.121048468C>G | CA414410362 | GLUD2 | c.784C>G (p.Gln262Glu) | |
| X | g.121048468C>T | CA414410361 | GLUD2 | c.784C>T (p.Gln262Ter) | |
| X | g.121048469A>C | CA414410363 | GLUD2 | c.785A>C (p.Gln262Pro) | |
| X | g.121048469A>G | CA414410365 | GLUD2 | c.785A>G (p.Gln262Arg) | |
| X | g.121048469A>T | CA414410364 | GLUD2 | c.785A>T (p.Gln262Leu) | |
| X | g.121048470A>C | CA414410366 | GLUD2 | c.786A>C (p.Gln262His) | |
| X | g.121048470A>G | CA518461313 | GLUD2 | c.786A>G (p.Gln262=) | ClinVar |
| X | g.121048470A>T | CA414410367 | GLUD2 | c.786A>T (p.Gln262His) | |
| X | g.121048471G>A | CA414410368 | GLUD2 | c.787G>A (p.Gly263Arg) | |
| X | g.121048471G>C | CA414410370 | GLUD2 | c.787G>C (p.Gly263Arg) | |
| X | g.121048471G>T | CA414410369 | GLUD2 | c.787G>T (p.Gly263Trp) | COSMIC |
| X | g.121048472G>A | CA414410371 | GLUD2 | c.788G>A (p.Gly263Glu) | |
| X | g.121048472G>C | CA10506564 | GLUD2 | c.788G>C (p.Gly263Ala) | dbSNP ExAC |
| X | g.121048472G= | CA2455035154 | GLUD2 | c.788G= (p.Gly263=) | |
| X | g.121048472G>T | CA414410372 | GLUD2 | c.788G>T (p.Gly263Val) | |
| X | g.121048473G>A | CA518461314 | GLUD2 | c.789G>A (p.Gly263=) | |
| X | g.121048473G>C | CA518461315 | GLUD2 | c.789G>C (p.Gly263=) | |
| X | g.121048473G>T | CA518461316 | GLUD2 | c.789G>T (p.Gly263=) | |
| X | g.121048474G>A | CA414410373 | GLUD2 | c.790G>A (p.Gly264Arg) | |
| X | g.121048474G>C | CA414410374 | GLUD2 | c.790G>C (p.Gly264Arg) | |
| X | g.121048474G>T | CA414410375 | GLUD2 | c.790G>T (p.Gly264Ter) | |
| X | g.121048475G>A | CA414410376 | GLUD2 | c.791G>A (p.Gly264Glu) | |
| X | g.121048475G>C | CA414410377 | GLUD2 | c.791G>C (p.Gly264Ala) | gnomAD v4 |
| X | g.121048475G>T | CA414410378 | GLUD2 | c.791G>T (p.Gly264Val) | |
| X | g.121048476A>C | CA518461318 | GLUD2 | c.792A>C (p.Gly264=) | |
| X | g.121048476A>G | CA518461319 | GLUD2 | c.792A>G (p.Gly264=) | |
| X | g.121048476A>T | CA518461320 | GLUD2 | c.792A>T (p.Gly264=) | |
| X | g.121048477dup | CA2579693329 | GLUD2 | c.793dup (p.Ile265AsnfsTer17) | gnomAD v4 |
| X | g.121048477A>C | CA414410379 | GLUD2 | c.793A>C (p.Ile265Leu) | |
| X | g.121048477A>G | CA414410380 | GLUD2 | c.793A>G (p.Ile265Val) | |
| X | g.121048477A>T | CA414410381 | GLUD2 | c.793A>T (p.Ile265Phe) | |
| X | g.121048478T>A | CA414410384 | GLUD2 | c.794T>A (p.Ile265Asn) | |
| X | g.121048478T>C | CA414410383 | GLUD2 | c.794T>C (p.Ile265Thr) | dbSNP |
| X | g.121048478T>G | CA414410382 | GLUD2 | c.794T>G (p.Ile265Ser) | |
| X | g.121048479C>A | CA518461321 | GLUD2 | c.795C>A (p.Ile265=) | gnomAD v4 |
| X | g.121048479C>G | CA414410385 | GLUD2 | c.795C>G (p.Ile265Met) | |
| X | g.121048479C>T | CA518461322 | GLUD2 | c.795C>T (p.Ile265=) | |
| X | g.121048480C>A | CA414410386 | GLUD2 | c.796C>A (p.His266Asn) | |
| X | g.121048480C>G | CA414410387 | GLUD2 | c.796C>G (p.His266Asp) | |
| X | g.121048480C>T | CA414410388 | GLUD2 | c.796C>T (p.His266Tyr) | |
| X | g.121048481A>C | CA414410389 | GLUD2 | c.797A>C (p.His266Pro) | |
| X | g.121048481A>G | CA414410390 | GLUD2 | c.797A>G (p.His266Arg) | ClinVar |
| X | g.121048481A>T | CA414410391 | GLUD2 | c.797A>T (p.His266Leu) | |
| X | g.121048482T>A | CA414410392 | GLUD2 | c.798T>A (p.His266Gln) | |
| X | g.121048482T>C | CA10506565 | GLUD2 | c.798T>C (p.His266=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048482T>G | CA414410393 | GLUD2 | c.798T>G (p.His266Gln) | |
| X | g.121048482T= | CA2455035155 | GLUD2 | c.798T= (p.His266=) | |
| X | g.121048483G>A | CA414410394 | GLUD2 | c.799G>A (p.Gly267Arg) | |
| X | g.121048483G>C | CA414410395 | GLUD2 | c.799G>C (p.Gly267Arg) | |
| X | g.121048483G>T | CA414410396 | GLUD2 | c.799G>T (p.Gly267Ter) | |
| X | g.121048484G>A | CA414410398 | GLUD2 | c.800G>A (p.Gly267Glu) | |
| X | g.121048484G>C | CA414410399 | GLUD2 | c.800G>C (p.Gly267Ala) | |
| X | g.121048484G>T | CA414410397 | GLUD2 | c.800G>T (p.Gly267Val) | |
| X | g.121048485A>C | CA518461326 | GLUD2 | c.801A>C (p.Gly267=) | |
| X | g.121048485A>G | CA518461327 | GLUD2 | c.801A>G (p.Gly267=) | dbSNP |
| X | g.121048485A>T | CA518461328 | GLUD2 | c.801A>T (p.Gly267=) | |
| X | g.121048486C>A | CA414410400 | GLUD2 | c.802C>A (p.Arg268Ser) | |
| X | g.121048486C= | CA2455035156 | GLUD2 | c.802C= (p.Arg268=) | |
| X | g.121048486C>G | CA414410401 | GLUD2 | c.802C>G (p.Arg268Gly) | |
| X | g.121048486C>T | CA414410402 | GLUD2 | c.802C>T (p.Arg268Cys) | dbSNP gnomAD v4 |
| X | g.121048487G>A | CA414410403 | GLUD2 | c.803G>A (p.Arg268His) | gnomAD v4 COSMIC |
| X | g.121048487G>C | CA414410404 | GLUD2 | c.803G>C (p.Arg268Pro) | |
| X | g.121048487G>T | CA414410405 | GLUD2 | c.803G>T (p.Arg268Leu) | |
| X | g.121048488C>A | CA518461329 | GLUD2 | c.804C>A (p.Arg268=) | |
| X | g.121048488C>G | CA518461331 | GLUD2 | c.804C>G (p.Arg268=) | |
| X | g.121048488C>T | CA518461330 | GLUD2 | c.804C>T (p.Arg268=) | gnomAD v4 |
| X | g.121048489A>C | CA414410406 | GLUD2 | c.805A>C (p.Ile269Leu) | |
| X | g.121048489A>G | CA414410407 | GLUD2 | c.805A>G (p.Ile269Val) | |
| X | g.121048489A>T | CA414410408 | GLUD2 | c.805A>T (p.Ile269Phe) | |
| X | g.121048490T>A | CA414410409 | GLUD2 | c.806T>A (p.Ile269Asn) | |
| X | g.121048490T>C | CA414410410 | GLUD2 | c.806T>C (p.Ile269Thr) | |
| X | g.121048490T>G | CA414410411 | GLUD2 | c.806T>G (p.Ile269Ser) | |
| X | g.121048491C>A | CA518461333 | GLUD2 | c.807C>A (p.Ile269=) | |
| X | g.121048491C>G | CA414410412 | GLUD2 | c.807C>G (p.Ile269Met) | |
| X | g.121048491C>T | CA518461334 | GLUD2 | c.807C>T (p.Ile269=) | |
| X | g.121048492T>A | CA414410413 | GLUD2 | c.808T>A (p.Ser270Thr) | |
| X | g.121048492T>C | CA414410414 | GLUD2 | c.808T>C (p.Ser270Pro) | |
| X | g.121048492T>G | CA414410415 | GLUD2 | c.808T>G (p.Ser270Ala) | |
| X | g.121048493C>A | CA414410416 | GLUD2 | c.809C>A (p.Ser270Tyr) | |
| X | g.121048493C>G | CA414410417 | GLUD2 | c.809C>G (p.Ser270Cys) | |
| X | g.121048493C>T | CA414410418 | GLUD2 | c.809C>T (p.Ser270Phe) | gnomAD v4 |
| X | g.121048494T>A | CA518461335 | GLUD2 | c.810T>A (p.Ser270=) | gnomAD v4 |
| X | g.121048494T>C | CA518461336 | GLUD2 | c.810T>C (p.Ser270=) | |
| X | g.121048494T>G | CA518461337 | GLUD2 | c.810T>G (p.Ser270=) | |
| X | g.121048495G>A | CA414410419 | GLUD2 | c.811G>A (p.Ala271Thr) | |
| X | g.121048495G>C | CA414410420 | GLUD2 | c.811G>C (p.Ala271Pro) | |
| X | g.121048495G>T | CA414410421 | GLUD2 | c.811G>T (p.Ala271Ser) | |
| X | g.121048496C>A | CA414410422 | GLUD2 | c.812C>A (p.Ala271Asp) | |
| X | g.121048496C= | CA2455035157 | GLUD2 | c.812C= (p.Ala271=) | |
| X | g.121048496C>G | CA414410423 | GLUD2 | c.812C>G (p.Ala271Gly) | dbSNP gnomAD v4 |
| X | g.121048496C>T | CA414410424 | GLUD2 | c.812C>T (p.Ala271Val) | |
| X | g.121048497T>A | CA518461338 | GLUD2 | c.813T>A (p.Ala271=) | |
| X | g.121048497T>C | CA518461339 | GLUD2 | c.813T>C (p.Ala271=) | |
| X | g.121048497T>G | CA518461340 | GLUD2 | c.813T>G (p.Ala271=) | |
| X | g.121048498A>C | CA414410426 | GLUD2 | c.814A>C (p.Thr272Pro) | |
| X | g.121048498A>G | CA414410427 | GLUD2 | c.814A>G (p.Thr272Ala) | gnomAD v4 |
| X | g.121048498A>T | CA414410425 | GLUD2 | c.814A>T (p.Thr272Ser) | |
| X | g.121048499C>A | CA414410430 | GLUD2 | c.815C>A (p.Thr272Asn) | |
| X | g.121048499C>G | CA414410428 | GLUD2 | c.815C>G (p.Thr272Ser) | gnomAD v4 |
| X | g.121048499C>T | CA414410429 | GLUD2 | c.815C>T (p.Thr272Ile) | |
| X | g.121048500T>A | CA518461341 | GLUD2 | c.816T>A (p.Thr272=) | |
| X | g.121048500T>C | CA518461342 | GLUD2 | c.816T>C (p.Thr272=) | |
| X | g.121048500T>G | CA518461343 | GLUD2 | c.816T>G (p.Thr272=) | |
| X | g.121048501G>A | CA414410431 | GLUD2 | c.817G>A (p.Gly273Ser) | |
| X | g.121048501G>C | CA414410432 | GLUD2 | c.817G>C (p.Gly273Arg) | |
| X | g.121048501G>T | CA414410433 | GLUD2 | c.817G>T (p.Gly273Cys) | |
| X | g.121048502G>A | CA414410434 | GLUD2 | c.818G>A (p.Gly273Asp) | |
| X | g.121048502G>C | CA414410435 | GLUD2 | c.818G>C (p.Gly273Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048502G= | CA2455035158 | GLUD2 | c.818G= (p.Gly273=) | |
| X | g.121048502G>T | CA414410436 | GLUD2 | c.818G>T (p.Gly273Val) | |
| X | g.121048503C>A | CA518461344 | GLUD2 | c.819C>A (p.Gly273=) | |
| X | g.121048503C= | CA2455035159 | GLUD2 | c.819C= (p.Gly273=) | |
| X | g.121048503C>G | CA518461345 | GLUD2 | c.819C>G (p.Gly273=) | |
| X | g.121048503C>T | CA10506566 | GLUD2 | c.819C>T (p.Gly273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.121048504C>A | CA414410437 | GLUD2 | c.820C>A (p.Arg274Ser) | |
| X | g.121048504C= | CA2455035160 | GLUD2 | c.820C= (p.Arg274=) | |
| X | g.121048504C>G | CA414410438 | GLUD2 | c.820C>G (p.Arg274Gly) | |
| X | g.121048504C>T | CA335040649 | GLUD2 | c.820C>T (p.Arg274Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048505G>A | CA414410441 | GLUD2 | c.821G>A (p.Arg274His) | dbSNP gnomAD v4 |
| X | g.121048505G>C | CA414410439 | GLUD2 | c.821G>C (p.Arg274Pro) | |
| X | g.121048505G= | CA2455035161 | GLUD2 | c.821G= (p.Arg274=) | |
| X | g.121048505G>T | CA414410440 | GLUD2 | c.821G>T (p.Arg274Leu) | dbSNP gnomAD v2 |
| X | g.121048506T>A | CA518461346 | GLUD2 | c.822T>A (p.Arg274=) | |
| X | g.121048506T>C | CA518461347 | GLUD2 | c.822T>C (p.Arg274=) | |
| X | g.121048506T>G | CA518461348 | GLUD2 | c.822T>G (p.Arg274=) | |
| X | g.121048507G>A | CA414410442 | GLUD2 | c.823G>A (p.Gly275Ser) | COSMIC |
| X | g.121048507G>C | CA414410443 | GLUD2 | c.823G>C (p.Gly275Arg) | |
| X | g.121048507G>T | CA414410444 | GLUD2 | c.823G>T (p.Gly275Cys) |