Graphs and statistics for the VHL gene
Variant type (DNA level, all public variants)
All public variants (22)
| Unknown | | Deletions | | Insertions | | Substitutions |
Substitutions
86%
|
Unique public variants (18)
| Unknown | | Deletions | | Insertions | | Substitutions |
Unknown
6% Deletions
6% Insertions
6% Substitutions
83%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants (5)
Deletions
20% Substitutions
80%
|
Unique public pathogenic variants (5)
Deletions
20% Substitutions
80%
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (22)
| Unknown | | Missense changes | | Silent changes | | Stop changes |
Unknown
9% Missense changes
32% Silent changes
45% Stop changes
14%
|
Unique public variants (13)
| Unknown | | Missense changes | | Silent changes | | Stop changes |
Unknown
8% Missense changes
54% Silent changes
15% Stop changes
23%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (5)
| Unknown | | Missense changes | | Stop changes |
Unknown
20% Missense changes
40% Stop changes
40%
|
Unique public pathogenic variants (5)
| Unknown | | Missense changes | | Stop changes |
Unknown
20% Missense changes
40% Stop changes
40%
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (22)
| 3'UTR | | 5'UTR | | Coding | | Intron | | Start codon |
5'UTR
9% Coding
55% Intron
27%
|
Unique public variants (18)
| 3'UTR | | 5'UTR | | Coding | | Intron | | Start codon |
3'UTR
6% 5'UTR
6% Coding
67% Intron
17% Start codon
6%
|
Variant type (DNA level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants
|
Unique public pathogenic variants
|
|
