| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.91494378G>A | CA11892934 | CCSER1 | c.2218-104194G>A (n.2218-104194G>A) c.92-104194G>A (n.92-104194G>A) c.2314-104194G>A (n.2314-104194G>A) c.2236-104194G>A (n.2236-104194G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.91494378G= | CA1476187638 | CCSER1 | c.2218-104194G= (n.2218-104194G=) c.92-104194G= (n.92-104194G=) c.2314-104194G= (n.2314-104194G=) c.2236-104194G= (n.2236-104194G=) | dbSNP |