| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151855047G>T | CA341371 | GLRA1 | c.690C>A (p.Tyr230Ter) c.*448C>A (n.*448C>A) n.973C>A c.441C>A (p.Tyr147Ter) n.41+1659G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151855047G>A | CA129988403 | GLRA1 | c.690C>T (p.Tyr230=) c.*448C>T (n.*448C>T) n.973C>T c.441C>T (p.Tyr147=) n.41+1659G>A | ClinVar dbSNP gnomAD v4 |