| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636349C>A | CA119170 | MYOC,MYOCOS | c.1091G>T (p.Gly364Val) c.235-2281C>A (n.235-2281C>A) c.*429G>T (n.*429G>T) c.*55G>T (n.*55G>T) | ClinVar dbSNP |
| 1 | g.171636349C= | CA1141581195 | MYOC,MYOCOS | c.1091G= (p.Gly364=) c.235-2281C= (n.235-2281C=) c.*429G= (n.*429G=) c.*55G= (n.*55G=) | dbSNP |