| 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 | 0.040 | 12 | 111418869 | missense variant | C/T | snv | 2.7E-03 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 12 | 111447548 | intron variant | TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG | delins | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 12 | 111447663 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 10 | 113726306 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 19 | 11390564 | intron variant | A/G | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
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 | |||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.925 | 0.080 | 9 | 130874969 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
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 | ||||||||
|
1.000 | 0.040 | 2 | 1496134 | missense variant | T/G | snv | 6.0E-05 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
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 | 3 | 184372642 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
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 | |||||||
|
0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 |
|
0.700 | 1.000 | 8 | 2000 | 2018 | ||||||||
|
0.827 | 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 | |||||||||||
|
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 | 1 | 43349298 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2010 | 2020 | |||||||||
|
0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv |
|
0.040 | 1.000 | 4 | 2009 | 2015 |