| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156904G>A | CA277961 | MYO7A | c.635G>A (p.Arg212His) c.602G>A (p.Arg201His) c.377G>A (p.Arg126His) n.955G>A n.957G>A c.725G>A (p.Arg242His) n.740G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77156904G= | CA1984095865 | MYO7A | c.635G= (p.Arg212=) c.602G= (p.Arg201=) c.377G= (p.Arg126=) n.955G= n.957G= c.725G= (p.Arg242=) n.740G= | dbSNP |