| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 3 | 12584248 | 3 prime UTR variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 59946963 | 3 prime UTR variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 94130944 | missense variant | T/A;G | snv | 2.0E-05; 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 12 | 913286 | 3 prime UTR variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 19 | 7116952 | 3 prime UTR variant | T/C | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.070 | 0.714 | 7 | 2005 | 2013 | |||||||
|
0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.100 | 0.500 | 18 | 2005 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 7112582 | 3 prime UTR variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 17 | 4817174 | missense variant | C/T | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1.000 | 0.080 | 19 | 1609670 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 |
|
0.020 | 0.500 | 2 | 2010 | 2018 | |||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2007 | 2018 | ||||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 95150014 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 111405476 | missense variant | T/A | snv | 8.7E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.807 | 0.200 | 17 | 39723966 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv |
|
0.700 | 0 |