| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.43127985C>G | CA2407086150 | BIK | c.260+190C>G (n.260+190C>G) | dbSNP |
| 22 | g.43127985C>T | CA2407086151 | BIK | c.260+190C>T (n.260+190C>T) | dbSNP |
| 22 | g.43127985C>A | CA14952309 | BIK | c.260+190C>A (n.260+190C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |