| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564080A>G | CA666518 | ALPL | c.512A>G (p.His171Arg) n.572A>G c.281A>G (p.His94Arg) c.347A>G (p.His116Arg) c.356A>G (p.His119Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564080A= | CA1158014449 | ALPL | c.512A= (p.His171=) n.572A= c.281A= (p.His94=) c.347A= (p.His116=) c.356A= (p.His119=) | dbSNP |