Graphs and statistics for the CHEK2 gene
Variant type (DNA level, all public variants)
All public variants (135)
| Unknown | | Deletions | | repeat | | Substitutions |
Deletions
8% Substitutions
87%
|
Unique public variants (69)
| Unknown | | complex | | Deletions | | Substitutions |
Deletions
6% Substitutions
87%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants (53)
| Unknown | | Deletions | | repeat | | Substitutions |
Unknown
8% Deletions
17% Substitutions
74%
|
Unique public pathogenic variants (24)
| Unknown | | complex | | Deletions | | Substitutions |
Unknown
13% Deletions
17% Substitutions
67%
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (135)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Unknown
16% In frame deletions
5% Missense changes
60% Silent changes
13%
|
Unique public variants (73)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Unknown
5% Frameshifts
5% In frame deletions
7% Missense changes
77%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (53)
Could not draw pie with labels contained inside canvas | Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
|
Unique public pathogenic variants (26)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Unknown
15% Frameshifts
15% In frame deletions
12% Missense changes
46% Stop changes
8%
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (135)
| Coding | | Intron | | Splice region |
Coding
77% Intron
10% Splice region
13%
|
Unique public variants (69)
| Coding | | Intron | | Splice region |
Coding
87% Intron
6% Splice region
7%
|
Variant type (DNA level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (53)
Coding
79% Splice region
21%
|
Unique public pathogenic variants (24)
Coding
83% Splice region
17%
|
|
