| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47337539C>A | CA380318377 | MYBPC3 | c.2454G>T (p.Trp818Cys) c.2414-28G>T (n.2414-28G>T) c.2436G>T (p.Trp812Cys) c.2373G>T (p.Trp791Cys) | dbSNP |
| 11 | g.47337539C>T | CA012302 | MYBPC3 | c.2454G>A (p.Trp818Ter) c.2414-28G>A (n.2414-28G>A) c.2436G>A (p.Trp812Ter) c.2373G>A (p.Trp791Ter) | ClinVar dbSNP |
| 11 | g.47337539C= | CA1969340257 | MYBPC3 | c.2454G= (p.Trp818=) c.2414-28G= (n.2414-28G=) c.2436G= (p.Trp812=) c.2373G= (p.Trp791=) | dbSNP |
| 11 | g.47337539C>G | CA380318379 | MYBPC3 | c.2454G>C (p.Trp818Cys) c.2414-28G>C (n.2414-28G>C) c.2436G>C (p.Trp812Cys) c.2373G>C (p.Trp791Cys) | dbSNP gnomAD v4 |