| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27787980_27787982del | CA10627590 | ESCO2 | c.1109_1111del (p.Lys370del) c.53_55del (p.Lys18del) c.223_225del c.*84_*86del (n.*84_*86del) n.1193_1195del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27787982dup | CA341779 | ESCO2 | c.1111dup (p.Thr371AsnfsTer?) c.55dup (p.Thr19AsnfsTer?) c.225dup c.*86dup (n.*86dup) n.1195dup | ClinVar dbSNP gnomAD v4 |