| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8073215G>A | CA397986241 | ALOX12B | c.1859C>T (p.Pro620Leu) c.923C>T (p.Pro308Leu) n.282C>T n.583C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8073215G>T | CA8367165 | ALOX12B | c.1859C>A (p.Pro620Gln) c.923C>A (p.Pro308Gln) n.282C>A n.583C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |