| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636143A>G | CA119181 | MYOC,MYOCOS | c.1297T>C (p.Cys433Arg) c.235-2487A>G (n.235-2487A>G) c.*635T>C (n.*635T>C) c.*261T>C (n.*261T>C) | ClinVar dbSNP |
| 1 | g.171636143A= | CA1140886908 | MYOC,MYOCOS | c.1297T= (p.Cys433=) c.235-2487A= (n.235-2487A=) c.*635T= (n.*635T=) c.*261T= (n.*261T=) | dbSNP |