| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636331G>A | CA119171 | MYOC,MYOCOS | c.1109C>T (p.Pro370Leu) c.235-2299G>A (n.235-2299G>A) c.*447C>T (n.*447C>T) c.*73C>T (n.*73C>T) | ClinVar dbSNP COSMIC |
| 1 | g.171636331G>C | CA343724691 | MYOC,MYOCOS | c.1109C>G (p.Pro370Arg) c.235-2299G>C (n.235-2299G>C) c.*447C>G (n.*447C>G) c.*73C>G (n.*73C>G) | dbSNP |
| 1 | g.171636331G= | CA1140886910 | MYOC,MYOCOS | c.1109C= (p.Pro370=) c.235-2299G= (n.235-2299G=) c.*447C= (n.*447C=) c.*73C= (n.*73C=) | dbSNP |