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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.200 | 3 | 179234284 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.200 | 3 | 179234285 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.160 | 3 | 179203764 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.160 | 3 | 179203763 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 2 | 197402759 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 9 | 136505844 | frameshift variant | ACGAGCGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 9 | 136509877 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 45851112 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | X | 40054273 | frameshift variant | TAGAAGTCCCAAGTGC/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | X | 40074947 | frameshift variant | -/GT | ins |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.360 | 16 | 3738617 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 2 | 197402760 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |