| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184245559C>T | CA252104 | ALG3,EIF2B5 | c.353G>A (p.Gly118Asp) c.253G>A (p.Ala85Thr) c.246G>A c.*118G>A (n.*118G>A) c.2106+100852C>T (n.2106+100852C>T) c.209G>A (p.Gly70Asp) c.155-201G>A c.233G>A (p.Gly78Asp) n.326G>A n.342G>A n.238G>A n.284G>A n.347G>A c.254G>A (p.Gly85Asp) c.131G>A (p.Gly44Asp) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.184245559C= | CA1425931233 | ALG3,EIF2B5 | c.353G= (p.Gly118=) c.253G= (p.Ala85=) c.246G= c.*118G= (n.*118G=) c.2106+100852C= (n.2106+100852C=) c.209G= (p.Gly70=) c.155-201G= c.233G= (p.Gly78=) n.326G= n.342G= n.238G= n.284G= n.347G= c.254G= (p.Gly85=) c.131G= (p.Gly44=) | dbSNP |