| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47307584C>T | CA123246 | EFCAB13-DT,ITGB3 | c.2248C>T (p.Arg750Ter) c.2213C>T n.363-3802G>A n.227-3802G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.47307584C>G | CA400034317 | EFCAB13-DT,ITGB3 | c.2248C>G (p.Arg750Gly) c.2213C>G n.363-3802G>C n.227-3802G>C | dbSNP |