| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77172850C>A | CA475794379 | MYO7A | c.1900C>A (p.Arg634=) c.264C>A c.1867C>A (p.Arg623=) c.1669C>A (p.Arg557=) c.1642C>A (p.Arg548=) n.2220C>A n.2222C>A c.1990C>A (p.Arg664=) c.1759C>A (p.Arg587=) n.2005C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172850C>T | CA278635 | MYO7A | c.1900C>T (p.Arg634Ter) c.264C>T c.1867C>T (p.Arg623Ter) c.1669C>T (p.Arg557Ter) c.1642C>T (p.Arg548Ter) n.2220C>T n.2222C>T c.1990C>T (p.Arg664Ter) c.1759C>T (p.Arg587Ter) n.2005C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |