| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44374470C>T | CA16608466 | ITGA2B | c.2944G>A (p.Val982Met) c.2374+189G>A c.253+1363G>A c.37+189G>A n.2643G>A c.2842G>A (p.Val948Met) c.2943+189G>A (n.2943+189G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44374470C= | CA2261365257 | ITGA2B | c.2944G= (p.Val982=) c.2374+189G= c.253+1363G= c.37+189G= n.2643G= c.2842G= (p.Val948=) c.2943+189G= (n.2943+189G=) | dbSNP |