| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.30997289C>T | CA114682 | RNF135 | c.727C>T (p.Gln243Ter) c.564C>T (p.Thr188=) c.143C>T c.420C>T (p.Thr140=) c.792C>T (p.Thr264=) c.184C>T (p.Gln62Ter) c.406C>T (p.Gln136Ter) n.854C>T n.789C>T n.626C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.30997289C= | CA2255461880 | RNF135 | c.727C= (p.Gln243=) c.564C= (p.Thr188=) c.143C= c.420C= (p.Thr140=) c.792C= (p.Thr264=) c.184C= (p.Gln62=) c.406C= (p.Gln136=) n.854C= n.789C= n.626C= | dbSNP |