| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156069C>T | CA277957 | MYO7A | c.448C>T (p.Arg150Ter) c.415C>T (p.Arg139Ter) c.190C>T (p.Arg64Ter) n.768C>T n.770C>T c.538C>T (p.Arg180Ter) n.553C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77156069C>A | CA182403 | MYO7A | c.448C>A (p.Arg150=) c.415C>A (p.Arg139=) c.190C>A (p.Arg64=) n.768C>A n.770C>A c.538C>A (p.Arg180=) n.553C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |