| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151829033G>A | CA361851781 | GLRA1 | c.947C>T (p.Ala316Val) c.*705C>T (n.*705C>T) c.698C>T (p.Ala233Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151829033G>T | CA16618145 | GLRA1 | c.947C>A (p.Ala316Glu) c.*705C>A (n.*705C>A) c.698C>A (p.Ala233Glu) | ClinVar dbSNP |
| 5 | g.151829033G= | CA1591568013 | GLRA1 | c.947C= (p.Ala316=) c.*705C= (n.*705C=) c.698C= (p.Ala233=) | dbSNP |