| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.56834922C>T | CA130373 | C17orf67,DGKE | c.127C>T (p.Gln43Ter) n.285+3567G>A n.275C>T c.181C>T (p.Gln61Ter) n.280C>T n.313C>T n.292C>T n.293C>T n.291C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.56834922C= | CA2266988665 | C17orf67,DGKE | c.127C= (p.Gln43=) n.285+3567G= n.275C= c.181C= (p.Gln61=) n.280C= n.313C= n.292C= n.293C= n.291C= | dbSNP |