| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.61914626G>C | CA340548459 | PATJ | c.3532G>C (p.Gly1178Arg) c.3491-3398G>C (n.3491-3398G>C) n.3646G>C c.1909G>C (p.Gly637Arg) c.68G>C c.3381+13167G>C (n.3381+13167G>C) c.*1500G>C (n.*1500G>C) c.2623G>C (p.Gly875Arg) c.697G>C (p.Gly233Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.61914626G>A | CA882652 | PATJ | c.3532G>A (p.Gly1178Ser) c.3491-3398G>A (n.3491-3398G>A) n.3646G>A c.1909G>A (p.Gly637Ser) c.68G>A c.3381+13167G>A (n.3381+13167G>A) c.*1500G>A (n.*1500G>A) c.2623G>A (p.Gly875Ser) c.697G>A (p.Gly233Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |