| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47292175C>G | CA123238 | ITGB3 | c.1297C>G (p.Pro433Ala) c.1262C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47292175C>A | CA8623240 | ITGB3 | c.1297C>A (p.Pro433Thr) c.1262C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47292175C>T | CA291225742 | ITGB3 | c.1297C>T (p.Pro433Ser) c.1262C>T | dbSNP gnomAD v3 gnomAD v4 |