| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47375237G>T | CA346723536 | EPCAM | c.429G>T (p.Trp143Cys) c.513G>T (p.Trp171Cys) n.697G>T n.278G>T | dbSNP gnomAD v4 |
| 2 | g.47375237G>A | CA10581979 | EPCAM | c.429G>A (p.Trp143Ter) c.513G>A (p.Trp171Ter) n.697G>A n.278G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47375237G>C | CA346723537 | EPCAM | c.429G>C (p.Trp143Cys) c.513G>C (p.Trp171Cys) n.697G>C n.278G>C | dbSNP |