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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.360 | 17 | 58208003 | splice acceptor variant | T/C;G | snv | 7.0E-06 |
|
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 | ||||||||||||
|
0.776 | 0.400 | 11 | 72302339 | missense variant | T/A;C | snv | 1.8E-04; 2.0E-04 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.400 | 11 | 72302312 | stop gained | G/A;C;T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv |
|
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 | ||||||||
|
0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 |
|
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 | ||||||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |