Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77142783C>A | CA277965 | MYO7A | c.93C>A (p.Cys31Ter) c.183C>A (p.Cys61Ter) c.60C>A (p.Cys20Ter) n.413C>A n.415C>A n.198C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77142783C>T | CA132456 | MYO7A | c.93C>T (p.Cys31=) c.183C>T (p.Cys61=) c.60C>T (p.Cys20=) n.413C>T n.415C>T n.198C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |