| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 15 | 100914748 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 16 | 89283404 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 17 | 67918746 | frameshift variant | AG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 13 | 32316529 | splice donor variant | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.160 | 10 | 73842486 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | X | 18575390 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||
|
0.925 | 0.160 | 2 | 174748177 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 13 | 110512039 | missense variant | G/A;C | snv | 5.0E-04 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 17 | 28524525 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 70977826 | splice donor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 3 | 70977827 | splice donor variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 12 | 101753470 | frameshift variant | GA/- | delins | 5.1E-04 | 3.5E-04 |
|
0.700 | 1.000 | 3 | 2006 | 2014 |