| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13124076G>A | CA203267440 | OPTN | c.964G>A (p.Glu322Lys) c.946G>A (p.Glu316Lys) c.793G>A (p.Glu265Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13124076G>C | CA203267443 | OPTN | c.964G>C (p.Glu322Gln) c.946G>C (p.Glu316Gln) c.793G>C (p.Glu265Gln) | dbSNP gnomAD v4 |
| 10 | g.13124076G>T | CA376029093 | OPTN | c.964G>T (p.Glu322Ter) c.946G>T (p.Glu316Ter) c.793G>T (p.Glu265Ter) | dbSNP gnomAD v4 |