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 | 0.120 | 11 | 6617648 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 11 | 6617052 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6615251 | inframe insertion | -/CGGCCACTGGCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6614576 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6617386 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 11 | 6616973 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6617037 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 6617352 | splice donor variant | A/G | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 6616057 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 6616687 | missense variant | A/T | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 6615554 | missense variant | A/T | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
2 | 0.925 | 0.120 | 11 | 6617695 | stop gained | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2013 | ||||
|
5 | 0.925 | 0.120 | 11 | 6617319 | splice donor variant | AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 11 | 6616451 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 11 | 6616696 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2001 | 2012 | |||
|
1 | 1.000 | 0.120 | 11 | 6617353 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 | 0.700 | 1.000 | 8 | 1997 | 2013 | ||||
|
1 | 1.000 | 0.120 | 11 | 6614865 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 6617626 | missense variant | C/A;T | snv | 1.2E-05 | 0.800 | 1.000 | 16 | 1997 | 2012 | ||||
|
2 | 0.925 | 0.120 | 11 | 6615442 | missense variant | C/G | snv | 2.0E-05 | 2.1E-05 | 0.800 | 1.000 | 14 | 1997 | 2012 | |||
|
1 | 1.000 | 0.120 | 11 | 6614973 | missense variant | C/G | snv | 0.700 | 1.000 | 14 | 1997 | 2012 |