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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 12 | 11884481 | missense variant | T/C | snv |
|
0.710 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 13 | 28034140 | inframe deletion | TCA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 8 | 89947835 | stop gained | T/A | snv | 3.9E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 8 | 89943297 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 8 | 89958819 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.320 | 8 | 89982736 | frameshift variant | AA/- | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 1 | 1806515 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.935 | 46 | 2001 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.943 | 35 | 2001 | 2019 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.060 | 0.667 | 6 | 2003 | 2019 | ||||||||
|
0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv |
|
0.050 | 0.800 | 5 | 2007 | 2015 | |||||||||
|
0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 |
|
0.050 | 1.000 | 5 | 2014 | 2019 | ||||||||
|
0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 |
|
0.030 | 0.667 | 3 | 2014 | 2019 | ||||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
0.030 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 |
|
0.030 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.030 | 1.000 | 3 | 2002 | 2013 | |||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.030 | 1.000 | 3 | 2008 | 2019 |