| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 21554124 | frameshift variant | AACT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 21563170 | frameshift variant | GG/- | delins | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 7 | 94423102 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 12 | 47985772 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 12 | 47980597 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 1 | 150799228 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.925 | 0.240 | 11 | 6633485 | missense variant | C/G;T | snv | 1.1E-03 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 11 | 103257719 | stop gained | C/T | snv | 6.8E-05 | 1.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 103253342 | missense variant | G/A;T | snv | 6.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 9 | 137815998 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.040 | 8 | 28717012 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.080 | 4 | 1801519 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.320 | 4 | 150583180 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 15 | 23644535 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 6 | 83174481 | missense variant | A/G | snv | 1.7E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |