| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 20457260 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.030 | 1.000 | 3 | 2001 | 2017 | |||||||||
|
15 | 66481830 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||||
|
6 | 43770833 | missense variant | G/A | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
16 | 56608372 | upstream gene variant | A/G | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||||
|
3 | 186843845 | intron variant | G/A | snv | 0.14 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
15 | 66436762 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||||
|
5 | 68295271 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||||
|
7 | 55156555 | synonymous variant | T/C | snv | 5.6E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
3 | 39094706 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 2 | 208243469 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
9 | 132398145 | synonymous variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 18814978 | intron variant | T/A | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
9 | 87541931 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
21 | 45456344 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||||
|
0.925 | 11 | 67483198 | stop gained | C/T | snv | 2.8E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
5 | 151128211 | missense variant | G/A | snv | 2.0E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
9 | 87707108 | missense variant | G/A | snv | 0.67 | 0.59 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
4 | 54733175 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 56088073 | missense variant | C/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 66436810 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
15 | 66436814 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 152011697 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
3 | 41224630 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
5 | 68295257 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
5 | 68295257 | inframe deletion | GACAAACGTATGAACAGC/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 |