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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 21 | 33553079 | frameshift variant | GGTAT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 21 | 33554982 | frameshift variant | TTAG/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 21 | 33549517 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 21 | 33552303 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 21 | 33557227 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.882 | 0.120 | 3 | 47848237 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 7 | 40046007 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 7 | 76063579 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.851 | 0.160 | 7 | 76058047 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
19 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 12 | 23740986 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | X | 154379790 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 1 | 112514896 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 5 | 112204453 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
14 | 0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.160 | 11 | 68906074 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
8 | 0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
11 | 0.827 | 0.200 | 9 | 86266174 | missense variant | C/T | snv | 4.2E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.200 | 9 | 133356441 | start lost | ACCGCCGCCATCGCACCCGGCCCC/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.827 | 0.200 | 1 | 1806514 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 |