Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47332170T>C | CA380311184 | MYBPC3 | c.3716A>G (p.Glu1239Gly) c.3698A>G (p.Glu1233Gly) c.3635A>G (p.Glu1212Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47332170T= | CA1969333435 | MYBPC3 | c.3716A= (p.Glu1239=) c.3698A= (p.Glu1233=) c.3635A= (p.Glu1212=) | dbSNP |