| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47310917A>G | CA10650407 | EFCAB13-DT,ITGB3 | c.*713A>G (n.*713A>G) c.2266+3280A>G n.363-7135T>C n.227-7135T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47310917A= | CA2262616281 | EFCAB13-DT,ITGB3 | c.*713A= (n.*713A=) c.2266+3280A= n.363-7135T= n.227-7135T= | dbSNP |