| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47332658C>T | CA014298 | MYBPC3 | c.3535G>A (p.Glu1179Lys) c.3517G>A (p.Glu1173Lys) c.3454G>A (p.Glu1152Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332658C>A | CA380312684 | MYBPC3 | c.3535G>T (p.Glu1179Ter) c.3517G>T (p.Glu1173Ter) c.3454G>T (p.Glu1152Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332658C= | CA1969334368 | MYBPC3 | c.3535G= (p.Glu1179=) c.3517G= (p.Glu1173=) c.3454G= (p.Glu1152=) | dbSNP |