| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636430T>C | CA119177 | MYOC,MYOCOS | c.1010A>G (p.Gln337Arg) c.235-2200T>C (n.235-2200T>C) c.*348A>G (n.*348A>G) c.1009A>G (p.Arg337Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.171636430T= | CA1140886913 | MYOC,MYOCOS | c.1010A= (p.Gln337=) c.235-2200T= (n.235-2200T=) c.*348A= (n.*348A=) c.1009A= (p.Arg337=) | dbSNP |