| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193643434G>A | CA347676 | OPA1 | c.1367G>A (p.Gly456Asp) c.1202G>A (p.Gly401Asp) c.1313G>A (p.Gly438Asp) c.1256G>A (p.Gly419Asp) c.1141G>A c.884G>A (p.Gly295Asp) c.*1283G>A (n.*1283G>A) c.862G>A c.830G>A (p.Gly277Asp) c.1171G>A c.1217G>A (p.Gly406Asp) c.*680G>A (n.*680G>A) c.190G>A c.1094G>A (p.Gly365Asp) c.1205G>A (p.Gly402Asp) c.1259G>A (p.Gly420Asp) n.398G>A c.1148G>A (p.Gly383Asp) c.833G>A (p.Gly278Asp) n.1596G>A n.1431G>A | ClinVar dbSNP |
| 3 | g.193643434G= | CA1430244850 | OPA1 | c.1367G= (p.Gly456=) c.1202G= (p.Gly401=) c.1313G= (p.Gly438=) c.1256G= (p.Gly419=) c.1141G= c.884G= (p.Gly295=) c.*1283G= (n.*1283G=) c.862G= c.830G= (p.Gly277=) c.1171G= c.1217G= (p.Gly406=) c.*680G= (n.*680G=) c.190G= c.1094G= (p.Gly365=) c.1205G= (p.Gly402=) c.1259G= (p.Gly420=) n.398G= c.1148G= (p.Gly383=) c.833G= (p.Gly278=) n.1596G= n.1431G= | dbSNP |