Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47342061G>A | CA010995 | MYBPC3 | c.1720C>T (p.Arg574Trp) c.1702C>T (p.Arg568Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342061G>C | CA380324297 | MYBPC3 | c.1720C>G (p.Arg574Gly) c.1702C>G (p.Arg568Gly) | dbSNP |
11 | g.47342061G>T | CA010986 | MYBPC3 | c.1720C>A (p.Arg574=) c.1702C>A (p.Arg568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |