Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47332931C>A | CA014048 | MYBPC3 | c.3373G>T (p.Val1125Leu) c.3355G>T (p.Val1119Leu) c.3292G>T (p.Val1098Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332931C>T | CA014038 | MYBPC3 | c.3373G>A (p.Val1125Met) c.3355G>A (p.Val1119Met) c.3292G>A (p.Val1098Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |