| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44374673G>C | CA399790529 | ITGA2B | c.2929C>G (p.Arg977Gly) c.2360C>G c.253+1160C>G c.23C>G n.2440C>G c.2842-203C>G (n.2842-203C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44374673G>A | CA8602528 | ITGA2B | c.2929C>T (p.Arg977Ter) c.2360C>T c.253+1160C>T c.23C>T n.2440C>T c.2842-203C>T (n.2842-203C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |