| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47337729A>C | CA221688921 | MYBPC3 | c.2374T>G (p.Trp792Gly) c.2356T>G (p.Trp786Gly) c.2293T>G (p.Trp765Gly) | dbSNP |
| 11 | g.47337729A>G | CA012147 | MYBPC3 | c.2374T>C (p.Trp792Arg) c.2356T>C (p.Trp786Arg) c.2293T>C (p.Trp765Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337729A>T | CA380318738 | MYBPC3 | c.2374T>A (p.Trp792Arg) c.2356T>A (p.Trp786Arg) c.2293T>A (p.Trp765Arg) | ClinVar dbSNP |
| 11 | g.47337729A= | CA1969331587 | MYBPC3 | c.2374T= (p.Trp792=) c.2356T= (p.Trp786=) c.2293T= (p.Trp765=) | dbSNP |