| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45553741G>C | CA340207 | OPA3 | c.143-24285C>G (n.143-24285C>G) c.313C>G (p.Gln105Glu) c.154C>G (p.Gln52Glu) c.-17-24285C>G (n.-17-24285C>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.45553741G>A | CA406370805 | OPA3 | c.143-24285C>T (n.143-24285C>T) c.313C>T (p.Gln105Ter) c.154C>T (p.Gln52Ter) c.-17-24285C>T (n.-17-24285C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.45553741G>T | CA406370808 | OPA3 | c.143-24285C>A (n.143-24285C>A) c.313C>A (p.Gln105Lys) c.154C>A (p.Gln52Lys) c.-17-24285C>A (n.-17-24285C>A) | ClinVar dbSNP |