| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47307567T>A | CA400034232 | EFCAB13-DT,ITGB3 | c.2231T>A (p.Leu744His) c.2196T>A n.363-3785A>T n.227-3785A>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47307567T>C | CA143712 | EFCAB13-DT,ITGB3 | c.2231T>C (p.Leu744Pro) c.2196T>C n.363-3785A>G n.227-3785A>G | ClinVar dbSNP |
| 17 | g.47307567T>G | CA400034235 | EFCAB13-DT,ITGB3 | c.2231T>G (p.Leu744Arg) c.2196T>G n.363-3785A>C n.227-3785A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |