| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21573683A>C | CA256921 | ALPL | c.881A>C (p.Asp294Ala) c.73-2050A>C c.650A>C (p.Asp217Ala) c.716A>C (p.Asp239Ala) c.725A>C (p.Asp242Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573683A= | CA1141580643 | ALPL | c.881A= (p.Asp294=) c.73-2050A= c.650A= (p.Asp217=) c.716A= (p.Asp239=) c.725A= (p.Asp242=) | dbSNP |
| 1 | g.21573683A>G | CA338880198 | ALPL | c.881A>G (p.Asp294Gly) c.73-2050A>G c.650A>G (p.Asp217Gly) c.716A>G (p.Asp239Gly) c.725A>G (p.Asp242Gly) | ClinVar dbSNP |