| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47373519C>G | CA346722524 | EPCAM | c.133C>G (p.Gln45Glu) c.217C>G (p.Gln73Glu) c.361C>G (p.Gln121Glu) n.164C>G | dbSNP gnomAD v4 |
| 2 | g.47373519C>T | CA10581976 | EPCAM | c.133C>T (p.Gln45Ter) c.217C>T (p.Gln73Ter) c.361C>T (p.Gln121Ter) n.164C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.47373519C>A | CA346722522 | EPCAM | c.133C>A (p.Gln45Lys) c.217C>A (p.Gln73Lys) c.361C>A (p.Gln121Lys) n.164C>A | dbSNP |