| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564103G>A | CA256919 | ALPL | c.535G>A (p.Ala179Thr) n.595G>A c.304G>A (p.Ala102Thr) c.370G>A (p.Ala124Thr) c.379G>A (p.Ala127Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21564103G>T | CA338877928 | ALPL | c.535G>T (p.Ala179Ser) n.595G>T c.304G>T (p.Ala102Ser) c.370G>T (p.Ala124Ser) c.379G>T (p.Ala127Ser) | dbSNP gnomAD v4 |