| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 21 | 37480756 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.827 | 0.200 | 6 | 35509903 | frameshift variant | -/G | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 1 | 16044506 | frameshift variant | -/G | delins | 4.3E-06 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 16 | 68347257 | frameshift variant | -/GCTCTCCG | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 6 | 79042902 | frameshift variant | -/T | ins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 21 | 37480768 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 16 | 23452993 | start lost | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 2 | 135911447 | missense variant | A/G | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 21 | 37486513 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 16 | 68337496 | frameshift variant | AG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 16 | 23406263 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.827 | 0.280 | X | 153736231 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv |
|
0.700 | 0 |