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 | 4 | 5681282 | missense variant | A/C | snv | 8.0E-06 |
|
0.800 | 1.000 | 2 | 2002 | 2003 | ||||||||
|
0.882 | 0.160 | 4 | 5640789 | stop gained | G/A | snv | 4.8E-05 | 3.5E-05 |
|
0.710 | 1.000 | 3 | 2010 | 2012 | |||||||
|
1.000 | 0.120 | 4 | 5622554 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.710 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.160 | 4 | 5576247 | stop gained | G/A | snv | 8.0E-05 | 7.7E-05 |
|
0.700 | 1.000 | 4 | 2002 | 2015 | |||||||
|
0.925 | 0.160 | 4 | 5565256 | splice donor variant | A/G | snv | 3.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 3 | 2007 | 2013 | |||||||
|
0.925 | 0.160 | 4 | 5694333 | splice donor variant | A/C;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 3 | 2007 | 2009 | ||||||||
|
0.925 | 0.160 | 4 | 5694333 | splice donor variant | A/C;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 3 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 4 | 5685441 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 4 | 5584832 | missense variant | G/A;T | snv | 1.6E-04; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2002 | 2003 | ||||||||
|
1.000 | 0.120 | 4 | 5618531 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2016 | |||||||
|
1.000 | 0.120 | 4 | 5711382 | start lost | T/A | snv |
|
0.700 | 1.000 | 2 | 2009 | 2017 | |||||||||
|
0.925 | 0.160 | 4 | 5565256 | splice donor variant | A/G | snv | 3.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2007 | 2013 | |||||||
|
1.000 | 0.120 | 4 | 5622562 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
1.000 | 0.120 | 4 | 5625766 | stop gained | G/A;T | snv | 3.2E-05; 3.9E-03 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.925 | 0.160 | 4 | 5622775 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2015 | |||||||
|
0.925 | 0.160 | 4 | 5618564 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2009 | 2015 | |||||||
|
1.000 | 0.120 | 4 | 5663228 | stop gained | T/A;C | snv | 4.0E-06 | 5.6E-05 |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||
|
1.000 | 0.120 | 4 | 5615505 | frameshift variant | T/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
1.000 | 0.120 | 4 | 5631845 | frameshift variant | TCCC/- | del | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
4 | 5634585 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.120 | 4 | 5574684 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 4 | 5685417 | stop gained | C/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
4 | 5634346 | intron variant | G/A | snv | 5.4E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 4 | 5709641 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 5709641 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |