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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 |
|
0.700 | 1.000 | 2 | 2001 | 2014 | |||||||
|
0.776 | 0.280 | 13 | 32380040 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 5 | 83105046 | missense variant | T/C | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 13 | 108209756 | frameshift variant | AG/-;AGAG | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 3 | 142568059 | splice region variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 15 | 48460299 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 3 | 52149850 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 10 | 68416703 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 2 | 46623765 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 2 | 46619676 | frameshift variant | -/GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv |
|
0.060 | 1.000 | 6 | 1999 | 2016 | |||||||||
|
0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 1999 | 2002 | ||||||||
|
0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.020 | 0.500 | 2 | 1998 | 1998 | ||||||||
|
0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.925 | 0.120 | 4 | 1804377 | missense variant | G/T | snv |
|
0.020 | 1.000 | 2 | 1999 | 2012 | |||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.200 | 12 | 112450368 | missense variant | AT/GC | mnv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.120 | 6 | 116120105 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.200 | 15 | 48463123 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 5 | 42688992 | missense variant | G/T | snv | 3.0E-04 | 1.1E-03 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 5 | 42694934 | missense variant | C/T | snv | 8.1E-06 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.120 | 4 | 1805638 | synonymous variant | C/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 |