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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2004 | 2008 | |||||||
|
0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.360 | 12 | 101642529 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 13 | 28672407 | frameshift variant | AT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 11 | 86277110 | missense variant | T/C | snv |
|
0.700 | 0 |