Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
6 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | 20 | 4787830 | intron variant | -/AGGGACT | ins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.060 | 1.000 | 6 | 2007 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
11 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 0.020 | 1.000 | 2 | 1999 | 2009 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1997 | 1998 | |||||
|
8 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 0.020 | 0.500 | 2 | 2007 | 2010 | |||||
|
7 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 0.020 | 0.500 | 2 | 2007 | 2010 | |||||
|
6 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 9 | 16864524 | intron variant | GTCT/- | delins | 4.2E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.200 | 17 | 43092277 | frameshift variant | -/T | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 17 | 61799205 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 17 | 43092155 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 16 | 23614019 | frameshift variant | T/- | delins | 0.700 | 0 |