| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21577436G>A | CA666834 | ALPL | c.1363G>A (p.Gly455Ser) n.632G>A c.438G>A c.1132G>A (p.Gly378Ser) c.1198G>A (p.Gly400Ser) c.1207G>A (p.Gly403Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577436G= | CA1142330173 | ALPL | c.1363G= (p.Gly455=) n.632G= c.438G= c.1132G= (p.Gly378=) c.1198G= (p.Gly400=) c.1207G= (p.Gly403=) | dbSNP |