| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.929 | 42 | 2003 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.800 | 5 | 2006 | 2013 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.040 | 1.000 | 4 | 2011 | 2015 | |||||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
0.040 | 1.000 | 4 | 2011 | 2015 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.030 | 0.667 | 3 | 2012 | 2016 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.030 | 0.667 | 3 | 2012 | 2016 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.030 | 0.667 | 3 | 2012 | 2016 | |||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2014 | 2018 | |||||||||
|
0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv |
|
0.020 | 0.500 | 2 | 2013 | 2016 | |||||||||
|
0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 1.000 | 2 | 1998 | 2007 | |||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 4 | 110618669 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 |