| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151822915C>T | CA342947 | GLRA1 | c.1108G>A (p.Gly370Ser) c.1132G>A (p.Gly378Ser) c.*866G>A (n.*866G>A) c.859G>A (p.Gly287Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822915C= | CA1591565290 | GLRA1 | c.1108G= (p.Gly370=) c.1132G= (p.Gly378=) c.*866G= (n.*866G=) c.859G= (p.Gly287=) | dbSNP |