| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47339670C>G | CA380321394 | MYBPC3 | c.2048G>C (p.Trp683Ser) c.2030G>C (p.Trp677Ser) | ClinVar dbSNP |
| 11 | g.47339670C>T | CA011693 | MYBPC3 | c.2048G>A (p.Trp683Ter) c.2030G>A (p.Trp677Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47339670C= | CA1969333388 | MYBPC3 | c.2048G= (p.Trp683=) c.2030G= (p.Trp677=) | dbSNP |