Graphs and statistics for the BRIP1 gene

Variant type (DNA level, all public variants)
All public variants (129)
Deletions
Indels
Duplications
repeat
Substitutions
Substitutions
92%

 
Unique public variants (39)
Deletions
Indels
Duplications
repeat
Substitutions
Deletions
13%
Duplications
5%
Substitutions
77%

 
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants (14)
Deletions
Duplications
repeat
Substitutions
Deletions
43%
Duplications
14%
repeat
7%
Substitutions
36%

 
Unique public pathogenic variants (11)
Deletions
Duplications
repeat
Substitutions
Deletions
45%
Duplications
18%
repeat
9%
Substitutions
27%

 
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (129)
Unknown
Frameshifts
In frame indels
Missense changes
Silent changes
Stop changes
Frameshifts
6%
Missense changes
44%
Silent changes
43%

 
Unique public variants (34)
Unknown
Frameshifts
In frame indels
Missense changes
Silent changes
Stop changes
Frameshifts
18%
Missense changes
65%
Stop changes
9%

 
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (14)
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Unknown
Frameshifts
Missense changes
Stop changes

 
Unique public pathogenic variants (11)
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Unknown
Frameshifts
Missense changes
Stop changes

 
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (129)
Coding
Intron
Splice region
Start codon
Coding
97%

 
Unique public variants (39)
Coding
Intron
Splice region
Start codon
Coding
90%
Splice region
5%

 
Variant type (DNA level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (14)
Coding
Splice region
Coding
93%
Splice region
7%

 
Unique public pathogenic variants (11)
Coding
Splice region
Coding
91%
Splice region
9%