| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636010A>C | CA119174 | MYOC,MYOCOS | c.1430T>G (p.Ile477Ser) c.235-2620A>C (n.235-2620A>C) c.*768T>G (n.*768T>G) c.*394T>G (n.*394T>G) | ClinVar dbSNP |
| 1 | g.171636010A>T | CA129023 | MYOC,MYOCOS | c.1430T>A (p.Ile477Asn) c.235-2620A>T (n.235-2620A>T) c.*768T>A (n.*768T>A) c.*394T>A (n.*394T>A) | ClinVar dbSNP |