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 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 1 | 42929244 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 11129789 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 1 | 11144735 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 2 | 208442425 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 2 | 166013812 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 165386920 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 166013745 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 2 | 199348742 | frameshift variant | AC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 2 | 199323850 | stop gained | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 |
|
0.700 | 1.000 | 4 | 2011 | 2016 | |||||||
|
0.925 | 0.240 | 3 | 4627877 | splice region variant | CGTA/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.160 | 3 | 47848246 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 3 | 33014057 | missense variant | T/C | snv | 3.6E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 3 | 33058221 | missense variant | G/A | snv | 4.4E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 |