| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42562797C>T | CA150601 | COASY | c.175C>T (p.Gln59Ter) c.262C>T (p.Gln88Ter) c.77-136C>T (n.77-136C>T) c.-575-136C>T (n.-575-136C>T) n.668C>T | ClinVar dbSNP |
| 17 | g.42562797C= | CA2260539772 | COASY | c.175C= (p.Gln59=) c.262C= (p.Gln88=) c.77-136C= (n.77-136C=) c.-575-136C= (n.-575-136C=) n.668C= | dbSNP |