| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575879G>A | CA666741 | ALPL | c.1144G>A (p.Val382Ile) n.413G>A c.219G>A c.913G>A (p.Val305Ile) c.979G>A (p.Val327Ile) c.988G>A (p.Val330Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21575879G>C | CA338881384 | ALPL | c.1144G>C (p.Val382Leu) n.413G>C c.219G>C c.913G>C (p.Val305Leu) c.979G>C (p.Val327Leu) c.988G>C (p.Val330Leu) | ClinVar dbSNP |
| 1 | g.21575879G= | CA1158019330 | ALPL | c.1144G= (p.Val382=) n.413G= c.219G= c.913G= (p.Val305=) c.979G= (p.Val327=) c.988G= (p.Val330=) | dbSNP |