| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149813C>A | CA351756143 | VHL | c.*167C>A (n.*167C>A) c.626C>A (n.626C>A) c.601C>A (p.Gln201Lys) c.490C>A (p.Gln164Lys) c.367C>A (p.Gln123Lys) n.626C>A c.*44C>A (n.*44C>A) | ClinVar dbSNP |
| 3 | g.10149813C>G | CA351756145 | VHL | c.*167C>G (n.*167C>G) c.626C>G (n.626C>G) c.601C>G (p.Gln201Glu) c.490C>G (p.Gln164Glu) c.367C>G (p.Gln123Glu) n.626C>G c.*44C>G (n.*44C>G) | ClinVar dbSNP |
| 3 | g.10149813C>T | CA357060 | VHL | c.*167C>T (n.*167C>T) c.626C>T (n.626C>T) c.601C>T (p.Gln201Ter) c.490C>T (p.Gln164Ter) c.367C>T (p.Gln123Ter) n.626C>T c.*44C>T (n.*44C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149813C= | CA1345062287 | VHL | c.*167C= (n.*167C=) c.626C= (n.626C=) c.601C= (p.Gln201=) c.490C= (p.Gln164=) c.367C= (p.Gln123=) n.626C= c.*44C= (n.*44C=) | dbSNP |