Graphs and statistics for the NBN gene

Variant type (DNA level, all public variants)
All public variants (116)
Unknown
Deletions
Duplications
Substitutions
Substitutions
96%

 
Unique public variants (28)
Unknown
Deletions
Duplications
Substitutions
Deletions
11%
Substitutions
82%

 
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants (5)
Unknown
Deletions
Duplications
Unknown
20%
Deletions
60%
Duplications
20%

 
Unique public pathogenic variants (5)
Unknown
Deletions
Duplications
Unknown
20%
Deletions
60%
Duplications
20%

 
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (116)
Unknown
Frameshifts
Missense changes
Silent changes
Missense changes
28%
Silent changes
67%

 
Unique public variants (21)
Unknown
Frameshifts
Missense changes
Silent changes
Frameshifts
14%
Missense changes
76%

 
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (5)
Unknown
Frameshifts
Unknown
40%
Frameshifts
60%

 
Unique public pathogenic variants (4)
Unknown
Frameshifts
Unknown
25%
Frameshifts
75%

 
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (116)
Coding
Intron
Splice region
Coding
84%
Intron
14%

 
Unique public variants (28)
Coding
Intron
Splice region
Coding
86%
Intron
7%
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 (5)
Coding
Splice region
Coding
60%
Splice region
40%

 
Unique public pathogenic variants (5)
Coding
Splice region
Coding
60%
Splice region
40%