| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156079G>A | CA278672 | MYO7A | c.458G>A (p.Cys153Tyr) c.425G>A (p.Cys142Tyr) c.200G>A (p.Cys67Tyr) n.778G>A n.780G>A c.548G>A (p.Cys183Tyr) n.563G>A | ClinVar dbSNP |
| 11 | g.77156079G>T | CA6197131 | MYO7A | c.458G>T (p.Cys153Phe) c.425G>T (p.Cys142Phe) c.200G>T (p.Cys67Phe) n.778G>T n.780G>T c.548G>T (p.Cys183Phe) n.563G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77156079G= | CA1984094221 | MYO7A | c.458G= (p.Cys153=) c.425G= (p.Cys142=) c.200G= (p.Cys67=) n.778G= n.780G= c.548G= (p.Cys183=) n.563G= | dbSNP |