| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21570326C>A | CA338879916 | ALPL | c.814C>A (p.Arg272Ser) c.24C>A c.583C>A (p.Arg195Ser) c.649C>A (p.Arg217Ser) c.658C>A (p.Arg220Ser) | dbSNP gnomAD v4 |
| 1 | g.21570326C>T | CA256936 | ALPL | c.814C>T (p.Arg272Cys) c.24C>T c.583C>T (p.Arg195Cys) c.649C>T (p.Arg217Cys) c.658C>T (p.Arg220Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21570326C= | CA1141580642 | ALPL | c.814C= (p.Arg272=) c.24C= c.583C= (p.Arg195=) c.649C= (p.Arg217=) c.658C= (p.Arg220=) | dbSNP |