| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21563143G>A | CA666460 | ALPL | c.331G>A (p.Ala111Thr) n.391G>A c.100G>A (p.Ala34Thr) c.166G>A (p.Ala56Thr) c.175G>A (p.Ala59Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21563143G= | CA1158014013 | ALPL | c.331G= (p.Ala111=) n.391G= c.100G= (p.Ala34=) c.166G= (p.Ala56=) c.175G= (p.Ala59=) | dbSNP |