| 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 |
| 8 | g.27777067_27777068dup | CA2686704266 | ESCO2 | c.759_760dup (p.Thr254LysfsTer14) n.558_559dup n.777_778dup n.843_844dup | dbSNP gnomAD v4 |
| 8 | g.27777065_27777068del | CA2686704264 | ESCO2 | c.757_760del (p.Lys253LeufsTer13) n.556_559del n.775_778del n.841_844del | dbSNP gnomAD v4 |
| 8 | g.27777066_27777068del | CA2686704265 | ESCO2 | c.758_760del (p.Lys253del) n.557_559del n.776_778del n.842_844del | dbSNP gnomAD v4 |