| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47346297C>A | CA009672 | MYBPC3 | c.1000G>T (p.Glu334Ter) c.982G>T (p.Glu328Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346297C>T | CA009667 | MYBPC3 | c.1000G>A (p.Glu334Lys) c.982G>A (p.Glu328Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47346297C= | CA1969339628 | MYBPC3 | c.1000G= (p.Glu334=) c.982G= (p.Glu328=) | dbSNP |