Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 2 | 178527548 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 178534554 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 178533241 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 178530118 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 178558437 | frameshift variant | TCTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 178575256 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 178621119 | missense variant | G/C | snv | 5.9E-04 | 3.2E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 178782872 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 178531192 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 178532202 | stop gained | G/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 178653292 | stop gained | C/A;T | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 178530461 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 178528584 | frameshift variant | TAAAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 178535516 | frameshift variant | -/A | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 178527662 | frameshift variant | -/CTGA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 178534092 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 2008 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 178591977 | splice donor variant | C/T | snv | 4.1E-06 |
|
0.700 | 1.000 | 6 | 2007 | 2018 | ||||||||
|
0.925 | 0.160 | 2 | 178615486 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.925 | 0.160 | 2 | 178608479 | splice acceptor variant | T/G | snv | 2.1E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178579938 | splice donor variant | C/T | snv | 8.1E-06 |
|
0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178535790 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 4 | 2008 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178618706 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 4 | 2012 | 2015 | |||||||||
|
0.925 | 0.160 | 2 | 178622768 | splice acceptor variant | C/T | snv | 4.5E-06 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2007 | 2014 | |||||||
|
0.925 | 0.160 | 2 | 178612355 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2013 | 2017 |