| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44378676dup | CA290948990 | ITGA2B | c.1913dup (p.Cys639MetfsTer22) c.1344dup n.708dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44378676A= | CA3223274598 | ITGA2B | c.1913T= (p.Val638=) c.1344T= n.708T= | dbSNP |