| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21568122C>T | CA274235 | ALPL | c.667C>T (p.Arg223Trp) c.436C>T (p.Arg146Trp) c.502C>T (p.Arg168Trp) c.511C>T (p.Arg171Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21568122C= | CA1158016137 | ALPL | c.667C= (p.Arg223=) c.436C= (p.Arg146=) c.502C= (p.Arg168=) c.511C= (p.Arg171=) | dbSNP |