| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47337773del | CA16042829 | MYBPC3 | c.2334del (p.Lys779ArgfsTer?) c.2316del (p.Lys773ArgfsTer?) c.2253del (p.Lys752ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337773dup | CA1969331610 | MYBPC3 | c.2334dup (p.Lys779GlnfsTer?) c.2334dup (p.Lys779GlnfsTer29) c.2316dup (p.Lys773GlnfsTer?) c.2253dup (p.Lys752GlnfsTer?) | ClinVar dbSNP |
| 11 | g.47337771_47337773del | CA2613392572 | MYBPC3 | c.2332_2334del (p.Pro778del) c.2314_2316del (p.Pro772del) c.2251_2253del (p.Pro751del) | dbSNP gnomAD v4 |