| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27780206delinsTTTTAT | CA277097 | ESCO2 | c.894delinsTTTTAT (p.Glu298AspfsTer?) c.8delinsTTTTAT c.861+3037delinsTTTTAT (n.861+3037delinsTTTTAT) n.978delinsTTTTAT | ClinVar dbSNP |
| 8 | g.27780206A= | CA1772946624 | ESCO2 | c.894A= (p.Glu298=) c.8A= c.861+3037A= (n.861+3037A=) n.978A= | dbSNP dbSNP |