| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47342698G>C | CA380325222 | MYBPC3 | c.1504C>G (p.Arg502Gly) c.1486C>G (p.Arg496Gly) | ClinVar dbSNP |
| 11 | g.47342698G>A | CA010493 | MYBPC3 | c.1504C>T (p.Arg502Trp) c.1486C>T (p.Arg496Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342698G= | CA1969335957 | MYBPC3 | c.1504C= (p.Arg502=) c.1486C= (p.Arg496=) | dbSNP |