MutationDistillery

MutationDistiller

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Impressum
1 project show hide
mode of inheritance number of genes to show

2 variant selection show hide
variant selection
ClinVar
fs / NMD / PTC
ClinVar
fs / NMD / PTC
non-synon. DMs
ClinVar
fs / NMD / PTC
non-synon. DMs
all DMs
near splice sites
ClinVar
fs / NMD / PTC
non-synon. DMs
all DMs
near splice sites
all disease mutations
display all variants (you should not!)
variant selection second variant (compound heterozygosity)
ClinVar
fs / NMD / PTC
ClinVar
fs / NMD / PTC
non-synon. DMs
ClinVar
fs / NMD / PTC
non-synon. DMs
all DMs
near splice sites
ClinVar
fs / NMD / PTC
non-synon. DMs
all DMs
near splice sites
all disease mutations
display all variants (you should not!)
set different parameters for second variant (compound heterozygosity)  

3 candidate genes or regions show hide
candidate genes or regions common gene panels all gene panels




















































































































































































































4 patients' phenotype show  hide
search in

5 gene function show  hide
search in

6 gene properties show hide
highlight these... show only genes...
highlight these keywords (OMIM/GeneRIFs) with at least one of these words in their OMIM reports
highlight these HPO IDs (and their subclasses) to which at least one of these HPO IDs applies
highlight these MGD phenotypes to which at least one of these phenotypes was assigned
highlight these GO IDs (and their subclasses) to which at least one of these GO IDs applies
highlight these Kegg pathways (specified by number) involved in at least one of these Kegg pathways

7 tissue and organ-specific expression show hide
Select tissue to be shown with the checkboxes; use the drop-down menus and text fields to limit expression to values above/below x times of median. Settings can either be 'exclusive' (only genes fulfilling all or one condition are displayed) or 'scoring' (genes are ranked for their fulfillment of all conditions). Tick boxes to display a certain tissue.

Connect expression conditions with and . Show expression as table bar chart.
tisue   conditions x median expression
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display options show hide