| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44375039C>A | CA290946484 | ITGA2B | c.2800G>T (p.Val934Phe) c.2231G>T c.253+794G>T n.2074G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.44375039C= | CA2261365548 | ITGA2B | c.2800G= (p.Val934=) c.2231G= c.253+794G= n.2074G= | dbSNP |