Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.55233275_55233279dup | CA163288 | CCNO | c.248_252dup (p.Gly85CysfsTer11) n.442_446dup n.333_337dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.55233275_55233279del | CA3266827 | CCNO | c.248_252del (p.Leu83ArgfsTer?) n.442_446del n.333_337del | dbSNP ExAC gnomAD v4 COSMIC |