| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47377045C>T | CA10581981 | EPCAM | c.523C>T (p.Gln175Ter) c.607C>T (p.Gln203Ter) n.372C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47377045C>G | CA346724003 | EPCAM | c.523C>G (p.Gln175Glu) c.607C>G (p.Gln203Glu) n.372C>G | ClinVar dbSNP |
| 2 | g.47377045C= | CA2495810609 | EPCAM | c.523C= (p.Gln175=) c.607C= (p.Gln203=) n.372C= | dbSNP |