Graphs and statistics for the ERCC6 gene
Variant type (DNA level, all public variants)
All public variants (73)
| Deletions | | Duplications | | Insertions | | Substitutions |
Deletions
30% Insertions
10% Substitutions
59%
|
Unique public variants (71)
| Deletions | | Duplications | | Insertions | | Substitutions |
Deletions
31% Insertions
10% Substitutions
58%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants
|
Unique public pathogenic variants
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (73)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Unknown
14% Frameshifts
33% Missense changes
19% Stop changes
29%
|
Unique public variants (62)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Frameshifts
39% Missense changes
21% Stop changes
32%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants
|
Unique public pathogenic variants
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (73)
| Coding | | Intron | | Splice region |
Coding
89% Splice region
10%
|
Unique public variants (71)
| Coding | | Intron | | Splice region |
Coding
89% Splice region
10%
|
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
|
|
