Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47349899G>T | CA380338156 | MYBPC3 | c.529C>A (p.Arg177Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47349899G>C | CA380338152 | MYBPC3 | c.529C>G (p.Arg177Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47349899G>A | CA015398 | MYBPC3 | c.529C>T (p.Arg177Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |