| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47332588C>G | CA16613579 | MYBPC3 | c.3605G>C (p.Cys1202Ser) c.3587G>C (p.Cys1196Ser) c.3524G>C (p.Cys1175Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332588C>T | CA014449 | MYBPC3 | c.3605G>A (p.Cys1202Tyr) c.3587G>A (p.Cys1196Tyr) c.3524G>A (p.Cys1175Tyr) | ClinVar dbSNP |
| 11 | g.47332588C= | CA1969334138 | MYBPC3 | c.3605G= (p.Cys1202=) c.3587G= (p.Cys1196=) c.3524G= (p.Cys1175=) | dbSNP |