| 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 |
| 11 | g.47332931C= | CA1969334717 | MYBPC3 | c.3373G= (p.Val1125=) c.3355G= (p.Val1119=) c.3292G= (p.Val1098=) | dbSNP |
| 11 | g.47332931C>G | CA380313744 | MYBPC3 | c.3373G>C (p.Val1125Leu) c.3355G>C (p.Val1119Leu) c.3292G>C (p.Val1098Leu) | dbSNP gnomAD v4 |