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 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.080 | 20 | 63439644 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.040 | 16 | 56192353 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 12 | 51790401 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 20 | 63413471 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 20 | 49374644 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | X | 18587986 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 12 | 123253922 | frameshift variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 20 | 49374519 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 6 | 31782361 | missense variant | C/G;T | snv | 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 6 | 31785269 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 12 | 51807100 | missense variant | C/G;T | snv |
|
0.720 | 1.000 | 0 | 2019 | 2020 | |||||||||
|
0.882 | 0.040 | 5 | 161897251 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 17 | 81715568 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 20 | 63442420 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 20 | 63439624 | missense variant | C/T | snv |
|
0.700 | 0 |