| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21561130T>C | CA274142 | ALPL | c.215T>C (p.Ile72Thr) n.275T>C c.66+385T>C (n.66+385T>C) c.50T>C (p.Ile17Thr) c.67-8T>C (n.67-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21561130T= | CA1158013231 | ALPL | c.215T= (p.Ile72=) n.275T= c.66+385T= (n.66+385T=) c.50T= (p.Ile17=) c.67-8T= (n.67-8T=) | dbSNP |