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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.160 | 2 | 219572251 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.807 | 0.240 | 11 | 31794079 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.160 | 10 | 117134559 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.240 | 12 | 49185714 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53386061 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53386097 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53207746 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53391876 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 3 | 47088172 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 12 | 12435627 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.360 | 19 | 13025409 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | X | 70329420 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | X | 111196503 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 12 | 49185140 | missense variant | A/G | snv | 0.700 | 0 |