| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1398995C>T | CA314807 | GAMT | c.491G>A (p.Gly164Asp) c.174G>A n.324G>A c.422G>A (p.Gly141Asp) c.176G>A (p.Gly59Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1398995C>A | CA402994587 | GAMT | c.491G>T (p.Gly164Val) c.174G>T n.324G>T c.422G>T (p.Gly141Val) c.176G>T (p.Gly59Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |