Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.45553639G>A | CA342399 | OPA3 | c.143-24183C>T (n.143-24183C>T) c.415C>T (p.Gln139Ter) c.256C>T (p.Gln86Ter) c.-17-24183C>T (n.-17-24183C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.45553639G= | CA2338489716 | OPA3 | c.143-24183C= (n.143-24183C=) c.415C= (p.Gln139=) c.256C= (p.Gln86=) c.-17-24183C= (n.-17-24183C=) | dbSNP |