Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47332144C>T | CA014732 | MYBPC3 | c.3742G>A (p.Gly1248Arg) c.3724G>A (p.Gly1242Arg) c.3661G>A (p.Gly1221Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332144C= | CA1969333398 | MYBPC3 | c.3742G= (p.Gly1248=) c.3724G= (p.Gly1242=) c.3661G= (p.Gly1221=) | dbSNP |