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 | 19 | 11019661 | missense variant | C/T | snv |
|
0.700 | 1.000 | 8 | 2010 | 2017 | ||||||||||
|
1.000 | 19 | 11021761 | missense variant | C/T | snv |
|
0.700 | 1.000 | 8 | 2010 | 2017 | ||||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.820 | 1.000 | 5 | 2011 | 2016 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.720 | 1.000 | 3 | 2014 | 2016 | ||||||||
|
19 | 11078223 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
19 | 11078223 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1.000 | 0.040 | 19 | 11039495 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.810 | 0.500 | 2 | 2009 | 2014 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.710 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
19 | 11076648 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
1.000 | 0.040 | 19 | 11033519 | splice donor variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 11013113 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 11034202 | splice donor variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 10989315 | splice acceptor variant | A/C | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 11007900 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
19 | 11079088 | missense variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
19 | 11079088 | missense variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
19 | 11075243 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 19 | 11017920 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 19 | 11017920 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |