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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 19 | 41970211 | protein altering variant | AGTCT/GA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | X | 25004777 | frameshift variant | TCTG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 73537826 | frameshift variant | AGCCGGTGCGCGCG/- | delins | 0.700 | 0 | ||||||||||
|
7 | X | 77633315 | missense variant | C/A | snv | 0.700 | 0 | ||||||||||
|
5 | 1.000 | 18 | 33743312 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
|
4 | 0.925 | 20 | 63439656 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
4 | 0.925 | 6 | 104796666 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
5 | 0.925 | 6 | 165450268 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 10 | 129848391 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.040 | 7 | 76063554 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 5 | 70946138 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 1.000 | 0.040 | 12 | 23665471 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.040 | 20 | 49374625 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | X | 150598681 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 0.080 | 16 | 8768248 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 0.080 | 5 | 70925150 | frameshift variant | -/GGATTCCG | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 1.000 | 0.080 | 16 | 8781360 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 0.080 | 16 | 8750498 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 19 | 13230191 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.080 | 16 | 8768220 | missense variant | C/T | snv | 0.700 | 0 |