Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47342744C>T | CA16042747 | MYBPC3 | c.1458G>A (p.Trp486Ter) c.1440G>A (p.Trp480Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47342744C>A | CA380325308 | MYBPC3 | c.1458G>T (p.Trp486Cys) c.1440G>T (p.Trp480Cys) | ClinVar dbSNP |