| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 |
|
0.700 | 1.000 | 8 | 2000 | 2018 | ||||||||
|
0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 |
|
0.700 | 1.000 | 2 | 1994 | 2001 | |||||||
|
0.925 | 0.080 | 1 | 43338564 | frameshift variant | CT/- | del | 5.2E-05 | 4.9E-05 |
|
0.700 | 1.000 | 2 | 2001 | 2007 | |||||||
|
0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 |
|
0.700 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 43339292 | frameshift variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.100 | 0.982 | 222 | 2005 | 2020 | ||||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.100 | 1.000 | 10 | 2007 | 2020 | ||||||||
|
0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 |
|
0.050 | 1.000 | 5 | 2009 | 2015 | |||||||
|
0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv |
|
0.040 | 1.000 | 4 | 2009 | 2015 | |||||||||
|
0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2010 | 2020 | |||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.882 | 0.080 | 6 | 134966397 | missense variant | A/C | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.851 | 0.120 | 6 | 135106006 | upstream gene variant | C/A | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 9 | 5057284 | intron variant | T/A | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 9 | 5072846 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 12 | 111447548 | intron variant | TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG | delins | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 9 | 130874969 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 15495419 | missense variant | G/A | snv | 8.5E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 43340027 | missense variant | T/C | snv | 3.4E-04 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 2 | 1496134 | missense variant | T/G | snv | 6.0E-05 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |