Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 4 | 101032350 | frameshift variant | TC/- | delins | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.200 | 13 | 101089846 | splice region variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 12 | 102202345 | non coding transcript exon variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 14 | 102348559 | stop lost | A/C | snv | 0.700 | 0 | ||||||||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 6 | 104796666 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
44 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 6 | 10876442 | splice donor variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 9 | 109137529 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1.000 | 9 | 109141360 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 9 | 109141466 | inframe deletion | CCT/- | delins | 2.0E-05 | 2.7E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1.000 | 9 | 109149675 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.851 | 0.120 | 13 | 110176912 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 1 | 11129789 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 1 | 11144735 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2012 | 2012 |