Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2014 | 2015 | |||||
|
7 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||||
|
1 | 1.000 | 21 | 37490462 | splice region variant | AGTA/- | delins | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 21 | 37493102 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||
|
7 | 1.000 | 21 | 37505352 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
6 | 0.925 | 21 | 37505442 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||
|
1 | 1.000 | 21 | 37505531 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1.000 | 21 | 37490164 | splice region variant | CTCTT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 21 | 37486616 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 21 | 37490201 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37486513 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37490244 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
7 | 0.925 | 21 | 37490393 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 21 | 37505443 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 21 | 37496180 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 21 | 37490442 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
14 | 0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 21 | 37480659 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 21 | 37478266 | frameshift variant | CTTGA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 21 | 37478262 | frameshift variant | CT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 21 | 37478283 | stop gained | -/A | delins | 0.700 | 0 |