Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47332146T>C | CA380310981 | MYBPC3 | c.3740A>G (p.Asp1247Gly) c.3722A>G (p.Asp1241Gly) c.3659A>G (p.Asp1220Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332146T= | CA1969333403 | MYBPC3 | c.3740A= (p.Asp1247=) c.3722A= (p.Asp1241=) c.3659A= (p.Asp1220=) | dbSNP |