| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21561127G>C | CA256922 | ALPL | c.212G>C (p.Arg71Pro) n.272G>C c.66+382G>C (n.66+382G>C) c.47G>C (p.Arg16Pro) c.67-11G>C (n.67-11G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21561127G>A | CA19088467 | ALPL | c.212G>A (p.Arg71His) n.272G>A c.66+382G>A (n.66+382G>A) c.47G>A (p.Arg16His) c.67-11G>A (n.67-11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |