| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47337730dup | CA012139 | MYBPC3 | c.2373dup (p.Trp792ValfsTer?) c.2373dup (p.Trp792ValfsTer16) c.2355dup (p.Trp786ValfsTer?) c.2292dup (p.Trp765ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337730C= | CA1969331588 | MYBPC3 | c.2373G= (p.Gln791=) c.2355G= (p.Gln785=) c.2292G= (p.Gln764=) | dbSNP |