| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636131A>G | CA119169 | MYOC,MYOCOS | c.1309T>C (p.Tyr437His) c.235-2499A>G (n.235-2499A>G) c.*647T>C (n.*647T>C) c.*273T>C (n.*273T>C) | ClinVar dbSNP |
| 1 | g.171636131A= | CA1140886906 | MYOC,MYOCOS | c.1309T= (p.Tyr437=) c.235-2499A= (n.235-2499A=) c.*647T= (n.*647T=) c.*273T= (n.*273T=) | dbSNP |