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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 16 | 1449081 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 8 | 93765413 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 21 | 45477409 | splice acceptor variant | A/G | snv | 8.2E-06 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 3 | 197694417 | missense variant | T/C | snv | 8.0E-06 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 16 | 1706450 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 8 | 86666951 | frameshift variant | AGTCTGGG/- | delins | 5.2E-05 | 7.0E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.360 | X | 134393952 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.480 | 14 | 58498824 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 16 | 89510539 | stop gained | T/A | snv | 4.2E-04 | 1.8E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 89531961 | missense variant | G/A;C | snv | 8.3E-04; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |