| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21576614C>T | CA666794 | ALPL | c.1282C>T (p.Arg428Ter) n.551C>T c.357C>T c.1051C>T (p.Arg351Ter) c.1117C>T (p.Arg373Ter) c.1126C>T (p.Arg376Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21576614C= | CA1158019793 | ALPL | c.1282C= (p.Arg428=) n.551C= c.357C= c.1051C= (p.Arg351=) c.1117C= (p.Arg373=) c.1126C= (p.Arg376=) | dbSNP |