| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156909G>A | CA278709 | MYO7A | c.640G>A (p.Gly214Arg) c.607G>A (p.Gly203Arg) c.382G>A (p.Gly128Arg) n.960G>A n.962G>A c.730G>A (p.Gly244Arg) n.745G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77156909G= | CA1984095889 | MYO7A | c.640G= (p.Gly214=) c.607G= (p.Gly203=) c.382G= (p.Gly128=) n.960G= n.962G= c.730G= (p.Gly244=) n.745G= | dbSNP |