| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21563142T>C | CA203015 | ALPL | c.330T>C (p.Ser110=) n.390T>C c.99T>C (p.Ser33=) c.165T>C (p.Ser55=) c.174T>C (p.Ser58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21563142T= | CA658795412 | ALPL | c.330T= (p.Ser110=) n.390T= c.99T= (p.Ser33=) c.165T= (p.Ser55=) c.174T= (p.Ser58=) | dbSNP |