| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21561126C>A | CA666434 | ALPL | c.211C>A (p.Arg71Ser) n.271C>A c.66+381C>A (n.66+381C>A) c.46C>A (p.Arg16Ser) c.67-12C>A (n.67-12C>A) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.21561126C>T | CA256920 | ALPL | c.211C>T (p.Arg71Cys) n.271C>T c.66+381C>T (n.66+381C>T) c.46C>T (p.Arg16Cys) c.67-12C>T (n.67-12C>T) | ClinVar dbSNP gnomAD v4 |