| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1399005T>A | CA16608969 | GAMT | c.481A>T (p.Lys161Ter) c.164A>T n.314A>T c.412A>T (p.Lys138Ter) c.166A>T (p.Lys56Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399005T= | CA2317699035 | GAMT | c.481A= (p.Lys161=) c.164A= n.314A= c.412A= (p.Lys138=) c.166A= (p.Lys56=) | dbSNP |