| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47343527C>A | CA009849 | MYBPC3 | c.1188G>T (p.Trp396Cys) c.1170G>T (p.Trp390Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343527C>T | CA009844 | MYBPC3 | c.1188G>A (p.Trp396Ter) c.1170G>A (p.Trp390Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343527C= | CA1969337160 | MYBPC3 | c.1188G= (p.Trp396=) c.1170G= (p.Trp390=) | dbSNP |