| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47339359dup | CA011744 | MYBPC3 | c.2113dup (p.Thr705AsnfsTer3) c.2095dup (p.Thr699AsnfsTer3) c.2067+292dup (n.2067+292dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339359T= | CA1969333190 | MYBPC3 | c.2113A= (p.Thr705=) c.2095A= (p.Thr699=) c.2067+292A= (n.2067+292A=) | dbSNP dbSNP |