| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 |
|
0.700 | 1.000 | 2 | 1998 | 2019 | |||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 |
|
0.700 | 1.000 | 2 | 2002 | 2019 | |||||||
|
0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.710 | 1.000 | 1 | 2008 | 2019 | |||||||
|
0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 |
|
0.750 | 1.000 | 2 | 2000 | 2019 | |||||||
|
0.790 | 0.160 | 16 | 56519791 | stop gained | G/C | snv | 5.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.280 | 12 | 88114488 | stop gained | G/A | snv | 5.1E-05 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 1.000 | 2 | 2004 | 2019 | |||||||
|
0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 |
|
0.750 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv |
|
0.730 | 1.000 | 1 | 2006 | 2019 | |||||||||
|
0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 |
|
0.710 | 1.000 | 1 | 2009 | 2019 | |||||||
|
0.807 | 0.080 | 3 | 129533711 | missense variant | C/A;G;T | snv |
|
0.740 | 0.800 | 1 | 1990 | 2019 | |||||||||
|
0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 6 | 42721820 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 |
|
0.710 | 1.000 | 1 | 2004 | 2019 | |||||||
|
0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 |
|
0.730 | 1.000 | 6 | 2004 | 2019 | ||||||||
|
0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 |
|
0.700 | 1.000 | 2 | 1998 | 2019 | |||||||
|
0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 |