| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13132068T>G | CA203270133 | OPTN | c.1403T>G (p.Met468Arg) c.1385T>G (p.Met462Arg) n.259T>G c.1232T>G (p.Met411Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13132068T= | CA1891481332 | OPTN | c.1403T= (p.Met468=) c.1385T= (p.Met462=) n.259T= c.1232T= (p.Met411=) | dbSNP |