| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47307581G>A | CA291228823 | EFCAB13-DT,ITGB3 | c.2245G>A (p.Asp749Asn) c.2210G>A n.363-3799C>T n.227-3799C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.47307581G>C | CA143709 | EFCAB13-DT,ITGB3 | c.2245G>C (p.Asp749His) c.2210G>C n.363-3799C>G n.227-3799C>G | ClinVar dbSNP |