| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77189348G>A | CA278649 | MYO7A | c.3508G>A (p.Glu1170Lys) c.1349G>A c.3475G>A (p.Glu1159Lys) c.1051G>A (p.Glu351Lys) n.35G>A n.1051G>A c.3418G>A (p.Glu1140Lys) c.3289G>A (p.Glu1097Lys) c.3277G>A (p.Glu1093Lys) c.3250G>A (p.Glu1084Lys) n.3828G>A n.3830G>A c.3598G>A (p.Glu1200Lys) c.3367G>A (p.Glu1123Lys) n.3613G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77189348G= | CA1984122354 | MYO7A | c.3508G= (p.Glu1170=) c.1349G= c.3475G= (p.Glu1159=) c.1051G= (p.Glu351=) n.35G= n.1051G= c.3418G= (p.Glu1140=) c.3289G= (p.Glu1097=) c.3277G= (p.Glu1093=) c.3250G= (p.Glu1084=) n.3828G= n.3830G= c.3598G= (p.Glu1200=) c.3367G= (p.Glu1123=) n.3613G= | dbSNP |