| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13110400T>A | CA118632 | OPTN | c.293T>A (p.Met98Lys) c.*198T>A (n.*198T>A) c.166+1112T>A (n.166+1112T>A) c.122T>A (p.Met41Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13110400T= | CA1891456333 | OPTN | c.293T= (p.Met98=) c.*198T= (n.*198T=) c.166+1112T= (n.166+1112T=) c.122T= (p.Met41=) | dbSNP |