| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 13700730 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.882 | 0.160 | 5 | 13844931 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 21900000 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 13769584 | frameshift variant | C/- | del | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 116628100 | stop gained | C/T | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.160 | 5 | 55233261 | frameshift variant | -/CGGGC;CGGGCCGGGC | delins |
|
0.700 | 1.000 | 3 | 2014 | 2016 | |||||||||
|
5 | 55231653 | stop gained | G/A | snv | 5.3E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||||
|
1.000 | 0.160 | 5 | 13788721 | missense variant | G/C | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | |||||||
|
7 | 756995 | splice donor variant | G/A;T | snv | 4.7E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||||
|
6 | 43645215 | stop gained | C/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
5 | 13794045 | frameshift variant | CTCT/- | delins | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 38860630 | splice donor variant | G/A | snv | 5.9E-05 | 8.0E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
6 | 38926054 | splice acceptor variant | G/A;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.925 | 0.160 | 5 | 55233272 | frameshift variant | CAGGG/-;CAGGGCAGGG | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.160 | 5 | 55233256 | frameshift variant | -/TGGGC | delins | 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 21 | 42486455 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 38814130 | splice donor variant | G/A | snv | 8.1E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 38935698 | splice donor variant | G/A;T | snv | 1.2E-05; 2.5E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
17 | 80097320 | stop gained | A/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.882 | 0.200 | 5 | 13793709 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.160 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 |
|
0.700 | 1.000 | 4 | 2013 | 2015 | ||||||||
|
0.925 | 0.160 | 21 | 42486463 | splice acceptor variant | T/G | snv | 3.7E-04 | 4.7E-04 |
|
0.700 | 1.000 | 3 | 2013 | 2014 | |||||||
|
1.000 | 0.160 | 17 | 74309345 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
5 | 13788865 | missense variant | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 2013 | 2016 | ||||||||||
|
0.925 | 0.160 | 12 | 48918751 | frameshift variant | AT/- | delins |
|
0.700 | 1.000 | 3 | 2013 | 2015 |