| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21568123G>A | CA666577 | ALPL | c.668G>A (p.Arg223Gln) c.437G>A (p.Arg146Gln) c.503G>A (p.Arg168Gln) c.512G>A (p.Arg171Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568123G= | CA1143366460 | ALPL | c.668G= (p.Arg223=) c.437G= (p.Arg146=) c.503G= (p.Arg168=) c.512G= (p.Arg171=) | dbSNP |
| 1 | g.21568123G>T | CA338879074 | ALPL | c.668G>T (p.Arg223Leu) c.437G>T (p.Arg146Leu) c.503G>T (p.Arg168Leu) c.512G>T (p.Arg171Leu) | dbSNP gnomAD v4 |