| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44374449C>A | CA290945996 | ITGA2B | c.2965G>T (p.Ala989Ser) c.2374+210G>T c.253+1384G>T c.37+210G>T n.2664G>T c.2863G>T (p.Ala955Ser) c.2943+210G>T (n.2943+210G>T) | dbSNP |
| 17 | g.44374449C>T | CA8602498 | ITGA2B | c.2965G>A (p.Ala989Thr) c.2374+210G>A c.253+1384G>A c.37+210G>A n.2664G>A c.2863G>A (p.Ala955Thr) c.2943+210G>A (n.2943+210G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |