| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21573733G>A | CA666685 | ALPL | c.931G>A (p.Glu311Lys) c.73-2000G>A c.700G>A (p.Glu234Lys) c.766G>A (p.Glu256Lys) c.775G>A (p.Glu259Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573733G= | CA1158018345 | ALPL | c.931G= (p.Glu311=) c.73-2000G= c.700G= (p.Glu234=) c.766G= (p.Glu256=) c.775G= (p.Glu259=) | dbSNP |
| 1 | g.21573733G>T | CA338880305 | ALPL | c.931G>T (p.Glu311Ter) c.73-2000G>T c.700G>T (p.Glu234Ter) c.766G>T (p.Glu256Ter) c.775G>T (p.Glu259Ter) | dbSNP gnomAD v4 |