| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149814A>T | CA351756149 | VHL | c.*168A>T (n.*168A>T) c.627A>T (n.627A>T) c.602A>T (p.Gln201Leu) c.491A>T (p.Gln164Leu) c.368A>T (p.Gln123Leu) n.627A>T c.*45A>T (n.*45A>T) | dbSNP COSMIC |
| 3 | g.10149814A>G | CA020429 | VHL | c.*168A>G (n.*168A>G) c.627A>G (n.627A>G) c.602A>G (p.Gln201Arg) c.491A>G (p.Gln164Arg) c.368A>G (p.Gln123Arg) n.627A>G c.*45A>G (n.*45A>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149814A= | CA1345062292 | VHL | c.*168A= (n.*168A=) c.627A= (n.627A=) c.602A= (p.Gln201=) c.491A= (p.Gln164=) c.368A= (p.Gln123=) n.627A= c.*45A= (n.*45A=) | dbSNP |