| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193647110C>A | CA223205 | OPA1 | c.1800C>A (p.Ser600Arg) c.1635C>A (p.Ser545Arg) c.1746C>A (p.Ser582Arg) c.1689C>A (p.Ser563Arg) c.1574C>A c.1317C>A (p.Ser439Arg) c.*1716C>A (n.*1716C>A) c.1222C>A c.*119C>A (n.*119C>A) c.1604C>A c.1650C>A (p.Ser550Arg) c.*1113C>A (n.*1113C>A) c.*236C>A (n.*236C>A) c.623C>A c.1527C>A (p.Ser509Arg) c.1638C>A (p.Ser546Arg) c.1692C>A (p.Ser564Arg) n.133C>A c.1581C>A (p.Ser527Arg) c.1266C>A (p.Ser422Arg) c.1263C>A (p.Ser421Arg) n.2029C>A n.1864C>A | ClinVar dbSNP |
| 3 | g.193647110C>G | CA10575554 | OPA1 | c.1800C>G (p.Ser600Arg) c.1635C>G (p.Ser545Arg) c.1746C>G (p.Ser582Arg) c.1689C>G (p.Ser563Arg) c.1574C>G c.1317C>G (p.Ser439Arg) c.*1716C>G (n.*1716C>G) c.1222C>G c.*119C>G (n.*119C>G) c.1604C>G c.1650C>G (p.Ser550Arg) c.*1113C>G (n.*1113C>G) c.*236C>G (n.*236C>G) c.623C>G c.1527C>G (p.Ser509Arg) c.1638C>G (p.Ser546Arg) c.1692C>G (p.Ser564Arg) n.133C>G c.1581C>G (p.Ser527Arg) c.1266C>G (p.Ser422Arg) c.1263C>G (p.Ser421Arg) n.2029C>G n.1864C>G | ClinVar dbSNP |
| 3 | g.193647110C= | CA1430250650 | OPA1 | c.1800C= (p.Ser600=) c.1635C= (p.Ser545=) c.1746C= (p.Ser582=) c.1689C= (p.Ser563=) c.1574C= c.1317C= (p.Ser439=) c.*1716C= (n.*1716C=) c.1222C= c.*119C= (n.*119C=) c.1604C= c.1650C= (p.Ser550=) c.*1113C= (n.*1113C=) c.*236C= (n.*236C=) c.623C= c.1527C= (p.Ser509=) c.1638C= (p.Ser546=) c.1692C= (p.Ser564=) n.133C= c.1581C= (p.Ser527=) c.1266C= (p.Ser422=) c.1263C= (p.Ser421=) n.2029C= n.1864C= | dbSNP |