| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149879G>C | CA351756383 | VHL | c.*233G>C (n.*233G>C) c.692G>C (n.692G>C) c.667G>C (p.Glu223Gln) c.556G>C (p.Glu186Gln) c.433G>C (p.Glu145Gln) n.692G>C c.*110G>C (n.*110G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149879G>T | CA16604432 | VHL | c.*233G>T (n.*233G>T) c.692G>T (n.692G>T) c.667G>T (p.Glu223Ter) c.556G>T (p.Glu186Ter) c.433G>T (p.Glu145Ter) n.692G>T c.*110G>T (n.*110G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149879G>A | CA020480 | VHL | c.*233G>A (n.*233G>A) c.692G>A (n.692G>A) c.667G>A (p.Glu223Lys) c.556G>A (p.Glu186Lys) c.433G>A (p.Glu145Lys) n.692G>A c.*110G>A (n.*110G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |