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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 16 | 86510849 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 6 | 41587455 | frameshift variant | T/- | del |
|
0.700 | 0 | |||||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 8 | 143818077 | splice acceptor variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
12 | 6939148 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||||
|
0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 4 | 78511299 | missense variant | G/A | snv | 5.2E-03 | 5.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 20 | 36240388 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 6 | 135404951 | frameshift variant | T/- | delins | 5.9E-04 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv |
|
0.700 | 0 |