| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21570321G>A | CA274277 | ALPL | c.809G>A (p.Trp270Ter) c.19G>A c.578G>A (p.Trp193Ter) c.644G>A (p.Trp215Ter) c.653G>A (p.Trp218Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21570321G= | CA1158016959 | ALPL | c.809G= (p.Trp270=) c.19G= c.578G= (p.Trp193=) c.644G= (p.Trp215=) c.653G= (p.Trp218=) | dbSNP |