| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1399168G>T | CA402995274 | GAMT | c.419C>A (p.Ser140Ter) c.102C>A n.252C>A c.350C>A (p.Ser117Ter) c.104C>A (p.Ser35Ter) | ClinVar dbSNP |
| 19 | g.1399168G>A | CA9043666 | GAMT | c.419C>T (p.Ser140Leu) c.102C>T n.252C>T c.350C>T (p.Ser117Leu) c.104C>T (p.Ser35Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |