| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.851 | 0.160 | 15 | 74722772 | frameshift variant | -/TCTCGGT | ins | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
1.000 | 0.080 | 14 | 104745924 | non coding transcript exon variant | -/TT | ins | 0.56 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 108474788 | 3 prime UTR variant | -/A | ins | 2.4E-05; 0.47 | 0.43 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 20 | 50578329 | intron variant | -/T;TC | ins | 0.62 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 13 | 32363410 | frameshift variant | -/AG | ins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.280 | 5 | 80654344 | intron variant | -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT | ins | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv |
|
0.020 | 1.000 | 2 | 2003 | 2006 | |||||||||
|
0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
0.050 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del |
|
0.020 | 0.500 | 2 | 2014 | 2014 | |||||||||
|
0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del |
|
0.020 | 0.500 | 2 | 2002 | 2008 | |||||||||
|
0.851 | 0.120 | 3 | 133600730 | 3 prime UTR variant | G/- | del |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 5 | 159008453 | intron variant | A/- | del | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 82217129 | intron variant | A/- | del | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 10 | 101553963 | 3 prime UTR variant | AACAGTGGA/- | del | 0.31 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 18 | 26923543 | intron variant | AGTGTT/- | del | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 200849597 | upstream gene variant | A/- | del | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 7 | 45915652 | intron variant | T/- | del | 0.57 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 10 | 9046151 | intergenic variant | G/- | del | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |