| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193637980G>A | CA253410 | OPA1 | c.1064G>A (p.Gly355Glu) c.899G>A (p.Gly300Glu) c.1010G>A (p.Gly337Glu) c.953G>A (p.Gly318Glu) c.994G>A c.581G>A (p.Gly194Glu) c.*980G>A (n.*980G>A) c.559G>A c.527G>A (p.Gly176Glu) c.868G>A c.914G>A (p.Gly305Glu) c.*377G>A (n.*377G>A) c.791G>A (p.Gly264Glu) c.902G>A (p.Gly301Glu) c.956G>A (p.Gly319Glu) n.95G>A n.420G>A n.385G>A c.845G>A (p.Gly282Glu) c.530G>A (p.Gly177Glu) n.1293G>A n.1128G>A | ClinVar dbSNP |
| 3 | g.193637980G= | CA1430236636 | OPA1 | c.1064G= (p.Gly355=) c.899G= (p.Gly300=) c.1010G= (p.Gly337=) c.953G= (p.Gly318=) c.994G= c.581G= (p.Gly194=) c.*980G= (n.*980G=) c.559G= c.527G= (p.Gly176=) c.868G= c.914G= (p.Gly305=) c.*377G= (n.*377G=) c.791G= (p.Gly264=) c.902G= (p.Gly301=) c.956G= (p.Gly319=) n.95G= n.420G= n.385G= c.845G= (p.Gly282=) c.530G= (p.Gly177=) n.1293G= n.1128G= | dbSNP |