| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.168408534C>T | CA3548562 | WWC1 | c.748C>T (p.Arg250Cys) c.632C>T n.83C>T n.98C>T n.525C>T c.77C>T c.466C>T (p.Arg156Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.168408534C= | CA1599436790 | WWC1 | c.748C= (p.Arg250=) c.632C= n.83C= n.98C= n.525C= c.77C= c.466C= (p.Arg156=) | dbSNP |