| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.240 | 12 | 76348214 | missense variant | G/A | snv | 4.8E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 16 | 56501014 | stop gained | G/A;C | snv | 2.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 2 | 60546204 | missense variant | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 14 | 105241292 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 14 | 105228832 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 14 | 105241282 | missense variant | G/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 14 | 105226674 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 3 | 9739449 | frameshift variant | TG/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 12 | 4525342 | frameshift variant | -/GTTT | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.320 | 12 | 6944474 | splice acceptor variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 19 | 29702977 | missense variant | C/A;G;T | snv | 1.2E-05; 7.2E-05; 1.2E-05 |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
5 | 150228191 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |