| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564094G>C | CA338877888 | ALPL | c.526G>C (p.Ala176Pro) n.586G>C c.295G>C (p.Ala99Pro) c.361G>C (p.Ala121Pro) c.370G>C (p.Ala124Pro) | dbSNP |
| 1 | g.21564094G>A | CA256935 | ALPL | c.526G>A (p.Ala176Thr) n.586G>A c.295G>A (p.Ala99Thr) c.361G>A (p.Ala121Thr) c.370G>A (p.Ala124Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |