| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44372408G>A | CA10575573 | ITGA2B | c.3076C>T (p.Arg1026Trp) c.2390C>T c.269C>T c.53C>T c.2974C>T (p.Arg992Trp) c.2959C>T (p.Arg987Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.44372408G>T | CA8602459 | ITGA2B | c.3076C>A (p.Arg1026=) c.2390C>A c.269C>A c.53C>A c.2974C>A (p.Arg992=) c.2959C>A (p.Arg987=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44372408G= | CA2261364368 | ITGA2B | c.3076C= (p.Arg1026=) c.2390C= c.269C= c.53C= c.2974C= (p.Arg992=) c.2959C= (p.Arg987=) | dbSNP |