| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47334002G>T | CA474429241 | MYBPC3 | c.2914C>A (p.Arg972=) c.2896C>A (p.Arg966=) c.2833C>A (p.Arg945=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47334002G>A | CA013190 | MYBPC3 | c.2914C>T (p.Arg972Trp) c.2896C>T (p.Arg966Trp) c.2833C>T (p.Arg945Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |