| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 16 | 62031776 | intron variant | TA/- | del |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 3 | 141059454 | intron variant | GAG/- | delins | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 12 | 26124961 | 5 prime UTR variant | ACACGCACAC/-;ACACGCACACACACGCACAC | delins | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 5 | 39203496 | intron variant | TT/-;T;TTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 6 | 1402916 | intergenic variant | GACA/- | delins | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 11 | 123679999 | downstream gene variant | -/A | delins | 9.2E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 4 | 40985283 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 12 | 51525350 | intergenic variant | ATTTATTT/-;ATTT;ATTTATTTATTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 18 | 26940224 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 13 | 73887725 | intron variant | -/A;AA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 13 | 53051646 | 3 prime UTR variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.820 | 1.000 | 3 | 2013 | 2019 | |||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 0.917 | 2 | 2010 | 2016 | ||||||||
|
1.000 | 0.040 | 10 | 104851081 | intron variant | A/G | snv | 0.74 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.882 | 0.040 | 12 | 2311360 | intron variant | G/A | snv | 0.77 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 72474590 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 165096466 | intron variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 18 | 53088362 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 156254801 | non coding transcript exon variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 18 | 55431781 | intron variant | G/C | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 18 | 37558282 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 2983774 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 7 | 31115733 | downstream gene variant | T/C | snv | 0.56 |
|
0.800 | 1.000 | 2 | 2009 | 2011 |