| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636173T>C | CA119178 | MYOC,MYOCOS | c.1267A>G (p.Lys423Glu) c.235-2457T>C (n.235-2457T>C) c.*605A>G (n.*605A>G) c.*231A>G (n.*231A>G) | ClinVar dbSNP |
| 1 | g.171636173T>G | CA343724106 | MYOC,MYOCOS | c.1267A>C (p.Lys423Gln) c.235-2457T>G (n.235-2457T>G) c.*605A>C (n.*605A>C) c.*231A>C (n.*231A>C) | ClinVar dbSNP |
| 1 | g.171636173T= | CA1140886909 | MYOC,MYOCOS | c.1267A= (p.Lys423=) c.235-2457T= (n.235-2457T=) c.*605A= (n.*605A=) c.*231A= (n.*231A=) | dbSNP |