| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75957465C>T | CA10581306 | ACOX1 | c.532G>A (p.Gly178Ser) c.706G>A (n.706G>A) c.*21G>A (n.*21G>A) c.431-1518G>A (n.431-1518G>A) n.550G>A c.418G>A (p.Gly140Ser) c.328G>A (p.Gly110Ser) c.124G>A (p.Gly42Ser) | ClinVar dbSNP |
| 17 | g.75957465C>A | CA115027 | ACOX1 | c.532G>T (p.Gly178Cys) c.706G>T (n.706G>T) c.*21G>T (n.*21G>T) c.431-1518G>T (n.431-1518G>T) n.550G>T c.418G>T (p.Gly140Cys) c.328G>T (p.Gly110Cys) c.124G>T (p.Gly42Cys) | ClinVar dbSNP |