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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 11 | 534259 | stop gained | G/A;T | snv | 1.2E-05 |
|
0.820 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.900 | 1.000 | 31 | 2005 | 2018 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.840 | 1.000 | 23 | 1990 | 2019 | |||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.830 | 1.000 | 16 | 2005 | 2017 | |||||||||
|
0.851 | 0.160 | 11 | 533883 | missense variant | G/A | snv |
|
0.810 | 1.000 | 15 | 2005 | 2016 | |||||||||
|
1.000 | 0.080 | 11 | 533553 | missense variant | T/C | snv |
|
0.810 | 1.000 | 11 | 2005 | 2018 | |||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 10 | 2005 | 2017 | |||||||||
|
0.925 | 0.160 | 11 | 533881 | missense variant | C/T | snv |
|
0.700 | 1.000 | 10 | 1982 | 2018 | |||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
0.800 | 1.000 | 9 | 2005 | 2014 | |||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 7 | 2005 | 2010 | |||||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
0.750 | 1.000 | 6 | 2006 | 2019 | |||||||||
|
0.882 | 0.120 | 11 | 533877 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.120 | 11 | 533869 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.080 | 7 | 74028222 | missense variant | G/A;T | snv | 4.1E-06; 4.6E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 5 | 87268639 | missense variant | G/T | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 9 | 21974599 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 9 | 21994286 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 5 | 87268482 | missense variant | G/A | snv | 6.3E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 533880 | missense variant | GC/AG | mnv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 11 | 533309 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 11 | 534212 | inframe insertion | -/TCT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 11 | 533848 | inframe insertion | -/GTCCCGCATGGCGCTGTACTC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 11 | 534210 | coding sequence variant | -/CTC | delins |
|
0.700 | 0 |