| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13110387A>C | CA203255197 | OPTN | c.280A>C (p.Lys94Gln) c.*185A>C (n.*185A>C) c.166+1099A>C (n.166+1099A>C) c.109A>C (p.Lys37Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13110387A= | CA1891456304 | OPTN | c.280A= (p.Lys94=) c.*185A= (n.*185A=) c.166+1099A= (n.166+1099A=) c.109A= (p.Lys37=) | dbSNP |