| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13113726T>C | CA13237488 | OPTN | c.552+1091T>C (n.552+1091T>C) c.*457+1091T>C (n.*457+1091T>C) c.*172+1091T>C (n.*172+1091T>C) c.149+1091T>C c.381+1091T>C (n.381+1091T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13113726T= | CA1891461304 | OPTN | c.552+1091T= (n.552+1091T=) c.*457+1091T= (n.*457+1091T=) c.*172+1091T= (n.*172+1091T=) c.149+1091T= c.381+1091T= (n.381+1091T=) | dbSNP |