| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47310169T>C | CA123230 | EFCAB13-DT,ITGB3 | c.2332T>C (p.Ser778Pro) c.2266+2532T>C n.363-6387A>G n.227-6387A>G | ClinVar dbSNP |
| 17 | g.47310169T= | CA2262615955 | EFCAB13-DT,ITGB3 | c.2332T= (p.Ser778=) c.2266+2532T= n.363-6387A= n.227-6387A= | dbSNP |