| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636244C>A | CA119182 | MYOC,MYOCOS | c.1196G>T (p.Gly399Val) c.235-2386C>A (n.235-2386C>A) c.*534G>T (n.*534G>T) c.*160G>T (n.*160G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171636244C>T | CA343724341 | MYOC,MYOCOS | c.1196G>A (p.Gly399Asp) c.235-2386C>T (n.235-2386C>T) c.*534G>A (n.*534G>A) c.*160G>A (n.*160G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.171636244C= | CA1140495949 | MYOC,MYOCOS | c.1196G= (p.Gly399=) c.235-2386C= (n.235-2386C=) c.*534G= (n.*534G=) c.*160G= (n.*160G=) | dbSNP |