Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47339660del | CA16619339 | MYBPC3 | c.2058del (p.Ile687SerfsTer?) c.2040del (p.Ile681SerfsTer?) | ClinVar dbSNP |
11 | g.47339660A= | CA3183114537 | MYBPC3 | c.2058T= (p.Ala686=) c.2040T= (p.Ala680=) | dbSNP dbSNP |