| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47342578C>A | CA380324980 | MYBPC3 | c.1624G>T (p.Glu542Ter) c.1606G>T (p.Glu536Ter) | ClinVar dbSNP |
| 11 | g.47342578C>G | CA010806 | MYBPC3 | c.1624G>C (p.Glu542Gln) c.1606G>C (p.Glu536Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342578C= | CA1969335796 | MYBPC3 | c.1624G= (p.Glu542=) c.1606G= (p.Glu536=) | dbSNP |