| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.45925881C>A | CA214400 | EPG5 | c.2575G>T (p.Glu859Ter) n.2610G>T c.1510G>T (p.Glu504Ter) n.2675G>T c.-541G>T (n.-541G>T) n.2657G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 18 | g.45925881C= | CA2300597446 | EPG5 | c.2575G= (p.Glu859=) n.2610G= c.1510G= (p.Glu504=) n.2675G= c.-541G= (n.-541G=) n.2657G= | dbSNP |