| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13136766G>A | CA118630 | OPTN | c.1634G>A (p.Arg545Gln) c.1616G>A (p.Arg539Gln) n.490G>A c.1463G>A (p.Arg488Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13136766G= | CA1891485956 | OPTN | c.1634G= (p.Arg545=) c.1616G= (p.Arg539=) n.490G= c.1463G= (p.Arg488=) | dbSNP |