| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47332110del | CA014863 | MYBPC3 | c.3776del (p.Gln1259ArgfsTer?) c.3758del (p.Gln1253ArgfsTer?) c.3695del (p.Gln1232ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332110T= | CA3182810891 | MYBPC3 | c.3776A= (p.Gln1259=) c.3758A= (p.Gln1253=) c.3695A= (p.Gln1232=) | dbSNP |