| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13125989C>T | CA254103 | OPTN | c.1192C>T (p.Gln398Ter) c.1174C>T (p.Gln392Ter) c.1021C>T (p.Gln341Ter) | ClinVar dbSNP |
| 10 | g.13125989C>G | CA5410896 | OPTN | c.1192C>G (p.Gln398Glu) c.1174C>G (p.Gln392Glu) c.1021C>G (p.Gln341Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |