| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149871C>A | CA020473 | VHL | c.*225C>A (n.*225C>A) c.684C>A (n.684C>A) c.659C>A (p.Ser220Ter) c.548C>A (p.Ser183Ter) c.425C>A (p.Ser142Ter) n.684C>A c.*102C>A (n.*102C>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149871C>G | CA277912 | VHL | c.*225C>G (n.*225C>G) c.684C>G (n.684C>G) c.659C>G (p.Ser220Trp) c.548C>G (p.Ser183Trp) c.425C>G (p.Ser142Trp) n.684C>G c.*102C>G (n.*102C>G) | ClinVar dbSNP |
| 3 | g.10149871C>T | CA041537 | VHL | c.*225C>T (n.*225C>T) c.684C>T (n.684C>T) c.659C>T (p.Ser220Leu) c.548C>T (p.Ser183Leu) c.425C>T (p.Ser142Leu) n.684C>T c.*102C>T (n.*102C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149871C= | CA1345062607 | VHL | c.*225C= (n.*225C=) c.684C= (n.684C=) c.659C= (p.Ser220=) c.548C= (p.Ser183=) c.425C= (p.Ser142=) n.684C= c.*102C= (n.*102C=) | dbSNP |