| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47292422G>A | CA123241 | ITGB3 | c.1544G>A (p.Arg515Gln) c.1509G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47292422G>C | CA8623283 | ITGB3 | c.1544G>C (p.Arg515Pro) c.1509G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47292422G>T | CA291225768 | ITGB3 | c.1544G>T (p.Arg515Leu) c.1509G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |