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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 9 | 137815998 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 1 | 21864095 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 16 | 8811088 | stop gained | C/A;T | snv | 4.4E-05; 5.4E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.240 | 17 | 39673099 | missense variant | T/C;G | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2001 | 2006 | |||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 16 | 8811660 | missense variant | T/C | snv | 2.9E-04 | 4.1E-04 |
|
0.700 | 0 |