| 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 | 0.160 | 6 | 151842664 | start lost | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
1.000 | 0.080 | 10 | 87933148 | frameshift variant | G/- | del |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 8 | 6444626 | frameshift variant | AAGAAATATTGCA/- | delins | 2.3E-04 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.200 | 17 | 43092302 | frameshift variant | CT/- | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 2 | 211377467 | 3 prime UTR variant | A/C | snv | 0.68 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 211378697 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1 | 162790761 | 5 prime UTR variant | C/T | snv | 0.70 | 0.62 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 62138902 | synonymous variant | T/C | snv | 0.84 | 0.88 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.740 | 1.000 | 4 | 2004 | 2016 | ||||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
0.040 | 1.000 | 4 | 2005 | 2009 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
0.882 | 0.080 | 6 | 151944323 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2005 | 2007 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2004 | 2016 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2017 | |||||||||
|
0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 7676040 | missense variant | C/A;G;T | snv | 4.8E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |