| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27777068del | CA341793 | ESCO2 | c.760del (p.Thr254LeufsTer13) n.559del n.778del n.844del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.27777068dup | CA339907 | ESCO2 | c.760dup (p.Thr254AsnfsTer27) n.559dup n.778dup n.844dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |