| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47333924G>A | CA013265 | MYBPC3 | c.2992C>T (p.Gln998Ter) c.2974C>T (p.Gln992Ter) c.2911C>T (p.Gln971Ter) | ClinVar dbSNP |
| 11 | g.47333924G>C | CA013257 | MYBPC3 | c.2992C>G (p.Gln998Glu) c.2974C>G (p.Gln992Glu) c.2911C>G (p.Gln971Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |