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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 16 | 56865414 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 |
|
0.830 | 1.000 | 9 | 1996 | 2016 | |||||||
|
1.000 | 0.120 | 16 | 56865482 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 |
|
0.800 | 1.000 | 1 | 1996 | 2015 | |||||||
|
1.000 | 0.120 | 16 | 56865483 | missense variant | G/A | snv | 3.6E-05 | 3.5E-05 |
|
0.800 | 1.000 | 3 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 16 | 56865506 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 56867070 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 56867150 | missense variant | G/C | snv | 9.3E-04 | 1.0E-03 |
|
0.800 | 1.000 | 2 | 1996 | 2015 | |||||||
|
1.000 | 0.120 | 16 | 56868301 | missense variant | G/A | snv | 1.5E-04 | 4.9E-05 |
|
0.800 | 1.000 | 2 | 2007 | 2013 | |||||||
|
1.000 | 0.120 | 16 | 56869728 | splice acceptor variant | G/A | snv | 5.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 16 | 56870119 | missense variant | C/T | snv | 1.2E-05 |
|
0.810 | 1.000 | 0 | 1996 | 2015 | ||||||||
|
1.000 | 0.120 | 16 | 56870699 | missense variant | T/C | snv | 1.6E-05 | 2.8E-05 |
|
0.800 | 1.000 | 2 | 2008 | 2016 | |||||||
|
1.000 | 0.120 | 16 | 56872737 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.800 | 1.000 | 0 | 1996 | 2015 | |||||||
|
1.000 | 0.120 | 16 | 56878162 | splice donor variant | G/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 16 | 56879087 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.810 | 1.000 | 0 | 1996 | 2015 | |||||||
|
1.000 | 0.120 | 16 | 56879088 | missense variant | G/A;C;T | snv | 5.7E-05; 4.0E-06; 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 56879153 | missense variant | T/C | snv | 7.0E-06 |
|
0.800 | 1.000 | 0 | 1996 | 2015 | ||||||||
|
0.925 | 0.160 | 16 | 56879168 | missense variant | A/C;G;T | snv | 4.0E-06; 1.6E-04 |
|
0.710 | < 0.001 | 0 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 16 | 56879207 | missense variant | G/A | snv | 1.6E-04 | 8.4E-05 |
|
0.800 | 1.000 | 11 | 1996 | 2015 | |||||||
|
1.000 | 0.120 | 16 | 56879227 | splice donor variant | GTACTG/- | delins | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 56879543 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 56879593 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 |
|
0.800 | 1.000 | 3 | 2005 | 2016 | |||||||
|
1.000 | 0.120 | 16 | 56879596 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
0.800 | 1.000 | 6 | 1996 | 2015 | ||||||||
|
1.000 | 0.120 | 16 | 56884142 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 |
|
0.810 | 1.000 | 0 | 1996 | 2018 | ||||||||
|
1.000 | 0.120 | 16 | 56885307 | missense variant | T/C | snv | 6.1E-06 |
|
0.820 | 1.000 | 0 | 1996 | 2015 | ||||||||
|
1.000 | 0.120 | 16 | 56885328 | missense variant | G/T | snv |
|
0.800 | 1.000 | 0 | 1996 | 2015 | |||||||||
|
1.000 | 0.120 | 16 | 56885358 | missense variant | A/G | snv | 6.3E-06; 1.3E-05 |
|
0.710 | 1.000 | 0 | 2018 | 2018 |