| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47335170_47335171del | CA012964 | MYBPC3 | c.2780_2781del (p.Thr927IlefsTer?) c.2762_2763del (p.Thr921IlefsTer?) c.2699_2700del (p.Thr900IlefsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47335168_47335171dup | CA2695201132 | MYBPC3 | c.2778_2781dup (p.Ser928HisfsTer?) c.2760_2763dup (p.Ser922HisfsTer?) c.2697_2700dup (p.Ser901HisfsTer?) | ClinVar dbSNP |