| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575847C>T | CA666733 | ALPL | c.1112C>T (p.Thr371Ile) n.381C>T c.187C>T c.881C>T (p.Thr294Ile) c.947C>T (p.Thr316Ile) c.956C>T (p.Thr319Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21575847C= | CA1158019319 | ALPL | c.1112C= (p.Thr371=) n.381C= c.187C= c.881C= (p.Thr294=) c.947C= (p.Thr316=) c.956C= (p.Thr319=) | dbSNP |