Graphs and statistics for the OPTN gene
Variant type (DNA level, all public variants)
All public variants (32)
| Deletions | | Indels | | Insertions | | Substitutions |
Insertions
6% Substitutions
88%
|
Unique public variants (28)
| Deletions | | Indels | | Insertions | | Substitutions |
Insertions
7% Substitutions
86%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants (8)
Insertions
25% Substitutions
75%
|
Unique public pathogenic variants (8)
Insertions
25% Substitutions
75%
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (32)
| Unknown | | Frameshifts | | Missense changes | | Stop changes |
Frameshifts
6% Missense changes
72% Stop changes
19%
|
Unique public variants (27)
| Unknown | | Frameshifts | | Missense changes | | Stop changes |
Frameshifts
7% Missense changes
70% Stop changes
19%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (8)
| Frameshifts | | Missense changes | | Stop changes |
Frameshifts
13% Missense changes
50% Stop changes
38%
|
Unique public pathogenic variants (8)
| Frameshifts | | Missense changes | | Stop changes |
Frameshifts
13% Missense changes
50% Stop changes
38%
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (32)
|
Unique public variants (28)
|
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
|
|
