| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149909A>T | CA020507 | VHL | c.*263A>T (n.*263A>T) c.722A>T (n.722A>T) c.697A>T (p.Lys233Ter) c.586A>T (p.Lys196Ter) c.463A>T (p.Lys155Ter) n.722A>T c.*140A>T (n.*140A>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149909A>G | CA16611099 | VHL | c.*263A>G (n.*263A>G) c.722A>G (n.722A>G) c.697A>G (p.Lys233Glu) c.586A>G (p.Lys196Glu) c.463A>G (p.Lys155Glu) n.722A>G c.*140A>G (n.*140A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149909A= | CA1345062847 | VHL | c.*263A= (n.*263A=) c.722A= (n.722A=) c.697A= (p.Lys233=) c.586A= (p.Lys196=) c.463A= (p.Lys155=) n.722A= c.*140A= (n.*140A=) | dbSNP |