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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 |
|
0.700 | 1.000 | 4 | 2011 | 2016 | |||||||
|
0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.400 | 11 | 72302339 | missense variant | T/A;C | snv | 1.8E-04; 2.0E-04 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 11 | 72302312 | stop gained | G/A;C;T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 9 | 131508926 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins |
|
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 | 8 | 132180246 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 18 | 33738903 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 3 | 33014057 | missense variant | T/C | snv | 3.6E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 6 | 43007265 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 9 | 137815998 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 12 | 13571930 | missense variant | C/T | snv |
|
0.700 | 0 |