| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| X | g.121048406C>A | CA414410218 | GLUD2 | c.722C>A (p.Ala241Asp) | dbSNP |
| X | g.121048406C= | CA2455035140 | GLUD2 | c.722C= (p.Ala241=) | |
| X | g.121048406C>G | CA414410220 | GLUD2 | c.722C>G (p.Ala241Gly) | |
| X | g.121048406C>T | CA414410219 | GLUD2 | c.722C>T (p.Ala241Val) | |
| 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=) |