| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 15 | 44613500 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 6 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 44657094 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2008 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 44572682 | splice donor variant | C/A | snv | 0.700 | 1.000 | 4 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 44651744 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2007 | 2014 | |||
|
1 | 1.000 | 0.080 | 15 | 44620189 | splice donor variant | C/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2009 | 2016 | |||
|
1 | 1.000 | 0.080 | 15 | 44564698 | missense variant | C/G;T | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 44626429 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 44620234 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 15 | 44584057 | stop gained | G/A | snv | 3.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 15 | 44563302 | splice acceptor variant | C/G | snv | 1.0E-04 | 7.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 15 | 44651598 | frameshift variant | -/T | delins | 5.2E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 15 | 44584223 | frameshift variant | CT/- | delins | 4.9E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 15 | 44570551 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 15 | 44657182 | stop gained | G/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 15 | 44610917 | frameshift variant | -/GGGA | delins | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 15 | 44575042 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44584522 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44567593 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44615411 | stop gained | A/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44583836 | frameshift variant | A/- | delins | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 44595303 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44596152 | stop gained | C/G;T | snv | 1.2E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 44567580 | stop gained | T/A;G | snv | 1.2E-05; 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44615551 | frameshift variant | -/A | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 44573661 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.700 | 0 |