| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99861524T>G | CA16040820 | AGL | c.104T>G (p.Leu35Ter) n.315T>G c.56T>G (p.Leu19Ter) c.53T>G (p.Leu18Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99861524T= | CA1183923508 | AGL | c.104T= (p.Leu35=) n.315T= c.56T= (p.Leu19=) c.53T= (p.Leu18=) | dbSNP |