| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575868A>T | CA256928 | ALPL | c.1133A>T (p.Asp378Val) n.402A>T c.208A>T c.902A>T (p.Asp301Val) c.968A>T (p.Asp323Val) c.977A>T (p.Asp326Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21575868A= | CA1141580648 | ALPL | c.1133A= (p.Asp378=) n.402A= c.208A= c.902A= (p.Asp301=) c.968A= (p.Asp323=) c.977A= (p.Asp326=) | dbSNP |