| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21577439G>A | CA256934 | ALPL | c.1366G>A (p.Gly456Arg) n.635G>A c.441G>A c.1135G>A (p.Gly379Arg) c.1201G>A (p.Gly401Arg) c.1210G>A (p.Gly404Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21577439G= | CA1141580651 | ALPL | c.1366G= (p.Gly456=) n.635G= c.441G= c.1135G= (p.Gly379=) c.1201G= (p.Gly401=) c.1210G= (p.Gly404=) | dbSNP |