| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1398960C>A | CA314816 | GAMT | c.526G>T (p.Glu176Ter) c.209G>T n.359G>T c.457G>T (p.Glu153Ter) c.211G>T (p.Glu71Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1398960C>T | CA402994336 | GAMT | c.526G>A (p.Glu176Lys) c.209G>A n.359G>A c.457G>A (p.Glu153Lys) c.211G>A (p.Glu71Lys) | dbSNP gnomAD v2 gnomAD v4 |