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 |