| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21568201G>T | CA123350 | ALPL | c.746G>T (p.Gly249Val) c.515G>T (p.Gly172Val) c.581G>T (p.Gly194Val) c.590G>T (p.Gly197Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568201G>C | CA666594 | ALPL | c.746G>C (p.Gly249Ala) c.515G>C (p.Gly172Ala) c.581G>C (p.Gly194Ala) c.590G>C (p.Gly197Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |