| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21570353dup | CA731320306 | ALPL | c.841dup (p.His281ProfsTer?) c.51dup c.610dup (p.His204ProfsTer?) c.676dup (p.His226ProfsTer?) c.685dup (p.His229ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21570353del | CA16040718 | ALPL | c.841del (p.His281ThrfsTer19) c.51del c.610del (p.His204ThrfsTer19) c.676del (p.His226ThrfsTer19) c.685del (p.His229ThrfsTer19) | ClinVar dbSNP |