| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 5982903 | missense variant | C/G | snv |
|
0.700 | 1.000 | 3 | 2010 | 2013 | |||||||||||
|
1.000 | 0.160 | 7 | 5992059 | splice acceptor variant | T/C;G | snv |
|
0.700 | 1.000 | 3 | 2014 | 2016 | |||||||||
|
0.882 | 0.200 | 7 | 5977629 | stop gained | G/A;T | snv | 2.7E-05 |
|
0.700 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
7 | 6002637 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||||
|
7 | 5973454 | missense variant | T/A | snv |
|
0.700 | 1.000 | 2 | 2013 | 2016 | |||||||||||
|
0.925 | 0.160 | 7 | 5986826 | stop gained | T/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
1.000 | 0.160 | 7 | 5989957 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
7 | 5978679 | stop gained | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
7 | 6004002 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2001 | 2001 | |||||||||||
|
7 | 6009017 | start lost | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.807 | 0.240 | 7 | 5987504 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
7 | 5982993 | splice acceptor variant | T/G | snv | 6.3E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.160 | 7 | 5999110 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.240 | 7 | 5999182 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.160 | 7 | 6004059 | splice acceptor variant | C/G;T | snv | 4.0E-06; 8.1E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
7 | 5973482 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
7 | 6002638 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 5982843 | stop gained | G/A | snv | 8.5E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.160 | 7 | 5987294 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
7 | 6005891 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
7 | 6003689 | splice donor variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||||
|
7 | 6002607 | stop gained | G/A;T | snv | 5.1E-04 | 1.7E-03 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 7 | 6005967 | stop gained | G/A;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
7 | 5989824 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
7 | 5977620 | stop gained | G/A | snv |
|
0.700 | 0 |