| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575736G>A | CA256929 | ALPL | c.1001G>A (p.Gly334Asp) n.270G>A c.76G>A c.770G>A (p.Gly257Asp) c.836G>A (p.Gly279Asp) c.845G>A (p.Gly282Asp) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21575736G= | CA1141580646 | ALPL | c.1001G= (p.Gly334=) n.270G= c.76G= c.770G= (p.Gly257=) c.836G= (p.Gly279=) c.845G= (p.Gly282=) | dbSNP |