| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44374732G>A | CA115850 | ITGA2B | c.2870C>T (p.Ser957Leu) c.2301C>T c.253+1101C>T n.2381C>T c.2842-262C>T (n.2842-262C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44374732G= | CA2261365387 | ITGA2B | c.2870C= (p.Ser957=) c.2301C= c.253+1101C= n.2381C= c.2842-262C= (n.2842-262C=) | dbSNP |