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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 2 | 199308845 | frameshift variant | TC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 2 | 219568211 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 1 | 23848684 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |