Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47342581G>A | CA16619341 | MYBPC3 | c.1621C>T (p.Gln541Ter) c.1603C>T (p.Gln535Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47342581G= | CA1969335801 | MYBPC3 | c.1621C= (p.Gln541=) c.1603C= (p.Gln535=) | dbSNP |
11 | g.47342581G>C | CA380324986 | MYBPC3 | c.1621C>G (p.Gln541Glu) c.1603C>G (p.Gln535Glu) | dbSNP gnomAD v4 |