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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 58831332 | intron variant | -/A | delins | 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 68583439 | intron variant | -/A | delins | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 24833715 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 118939742 | intron variant | -/A | delins | 1.6E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
21 | 35293938 | intron variant | -/A;AA | delins | 0.38 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 100052239 | intron variant | -/AA | ins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
21 | 38318057 | intergenic variant | -/AAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 35557937 | downstream gene variant | -/AAATAAT;AAT;AATTAAT | delins | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 78423112 | intron variant | -/AATTAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 37038415 | intron variant | -/ATGT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
19 | 10281703 | intron variant | -/C | delins | 7.6E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 88979517 | intron variant | -/C | ins | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
13 | 50657252 | intron variant | -/C | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 132790397 | intron variant | -/C | delins | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 69732152 | intron variant | -/C;CAAAAAC | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 171857638 | downstream gene variant | -/C;CC | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
16 | 3979970 | intron variant | -/CT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 38211527 | intron variant | -/G | delins | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 49539610 | intron variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
15 | 98639695 | intergenic variant | -/GAG | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
7 | 55888743 | intron variant | -/GCATACATACGT;GCGT;GCGTACATACATACGT;GCGTACATACCT;GCGTACATACGT | delins | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 120856876 | intron variant | -/T | delins | 0.60 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 124024877 | downstream gene variant | -/T | delins | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 4269579 | intron variant | -/T | ins | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 141386279 | downstream gene variant | -/T | ins | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |