Individual patient genotypes
VHL patient no. . | Mutation . | Type . |
|---|---|---|
| 1 | Whole gene deletion | Deletion |
| 2 | c.430C>T(G73ter) | Nonsense |
| 3 | c.713G>A(R167Q) | Missense |
| 4 | Deletion | Deletion |
| 5 | c.713G>A(R167W) | Missense |
| 6 | c.713G>A(R167W) | Missense |
| 7 | c.667insA | Frameshift |
| 8 | c.712C>T(R167W) | Missense |
| 9 | c.555insG | Frameshift |
| 10 | Deletion exon 1 and 2 | Deletion |
| 11 | c.427insGCCC | Frameshift |
| 12 | c.719T>C(L169P) | Missense |
| 13 | Deletion | Deletion |
| 14 | c.665T>C(I151T) | Missense |
| 15 | c.713G>A(R167Q) | Missense |
VHL patient no. . | Mutation . | Type . |
|---|---|---|
| 1 | Whole gene deletion | Deletion |
| 2 | c.430C>T(G73ter) | Nonsense |
| 3 | c.713G>A(R167Q) | Missense |
| 4 | Deletion | Deletion |
| 5 | c.713G>A(R167W) | Missense |
| 6 | c.713G>A(R167W) | Missense |
| 7 | c.667insA | Frameshift |
| 8 | c.712C>T(R167W) | Missense |
| 9 | c.555insG | Frameshift |
| 10 | Deletion exon 1 and 2 | Deletion |
| 11 | c.427insGCCC | Frameshift |
| 12 | c.719T>C(L169P) | Missense |
| 13 | Deletion | Deletion |
| 14 | c.665T>C(I151T) | Missense |
| 15 | c.713G>A(R167Q) | Missense |