| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47373820G>A | CA122700 | EPCAM | c.197G>A (p.Cys66Tyr) c.281G>A (p.Cys94Tyr) c.425G>A (p.Cys142Tyr) n.465G>A n.46G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.47373820G>C | CA346722753 | EPCAM | c.197G>C (p.Cys66Ser) c.281G>C (p.Cys94Ser) c.425G>C (p.Cys142Ser) n.465G>C n.46G>C | dbSNP |
| 2 | g.47373820G= | CA2495808675 | EPCAM | c.197G= (p.Cys66=) c.281G= (p.Cys94=) c.425G= (p.Cys142=) n.465G= n.46G= | dbSNP |