| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47374035C>T | CA130806 | EPCAM | c.412C>T (p.Arg138Ter) c.496C>T (p.Arg166Ter) n.680C>T n.261C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47374035C>G | CA346723492 | EPCAM | c.412C>G (p.Arg138Gly) c.496C>G (p.Arg166Gly) n.680C>G n.261C>G | dbSNP |
| 2 | g.47374035C>A | CA1648969 | EPCAM | c.412C>A (p.Arg138=) c.496C>A (p.Arg166=) n.680C>A n.261C>A | dbSNP ExAC gnomAD v2 |