| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575919T>C | CA19070423 | ALPL | c.1184T>C (p.Ile395Thr) n.453T>C c.259T>C c.953T>C (p.Ile318Thr) c.1019T>C (p.Ile340Thr) c.1028T>C (p.Ile343Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21575919T= | CA1158019349 | ALPL | c.1184T= (p.Ile395=) n.453T= c.259T= c.953T= (p.Ile318=) c.1019T= (p.Ile340=) c.1028T= (p.Ile343=) | dbSNP |