| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.224503791T>C | CA129109 | CUL3 | c.1238A>G (p.Asp413Gly) c.1040A>G (p.Asp347Gly) c.1166A>G (p.Asp389Gly) n.534A>G c.-39A>G (n.-39A>G) c.1256A>G (p.Asp419Gly) c.1205A>G (p.Asp402Gly) c.1091A>G (p.Asp364Gly) c.1196A>G (p.Asp399Gly) c.1046A>G (p.Asp349Gly) c.938A>G (p.Asp313Gly) | ClinVar dbSNP |
| 2 | g.224503791T= | CA1331555956 | CUL3 | c.1238A= (p.Asp413=) c.1040A= (p.Asp347=) c.1166A= (p.Asp389=) n.534A= c.-39A= (n.-39A=) c.1256A= (p.Asp419=) c.1205A= (p.Asp402=) c.1091A= (p.Asp364=) c.1196A= (p.Asp399=) c.1046A= (p.Asp349=) c.938A= (p.Asp313=) | dbSNP |