| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636329A>G | CA10583955 | MYOC,MYOCOS | c.1111T>C (p.Tyr371His) c.235-2301A>G (n.235-2301A>G) c.*449T>C (n.*449T>C) c.*75T>C (n.*75T>C) | ClinVar dbSNP |
| 1 | g.171636329A>C | CA343724686 | MYOC,MYOCOS | c.1111T>G (p.Tyr371Asp) c.235-2301A>C (n.235-2301A>C) c.*449T>G (n.*449T>G) c.*75T>G (n.*75T>G) | ClinVar dbSNP |
| 1 | g.171636329A= | CA1207016814 | MYOC,MYOCOS | c.1111T= (p.Tyr371=) c.235-2301A= (n.235-2301A=) c.*449T= (n.*449T=) c.*75T= (n.*75T=) | dbSNP |