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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 3 | 47088172 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 3 | 71046984 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
7 | 0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 8 | 93804851 | inframe insertion | -/TATGAA | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 1 | 27551119 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
19 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.280 | 8 | 38414875 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | X | 41346352 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
|
48 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | |||||||
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.700 | 0 | |||||||
|
10 | 0.851 | 0.280 | 12 | 88077790 | frameshift variant | T/- | delins | 2.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
26 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 3 | 71198338 | missense variant | G/A | snv | 2.4E-04 | 1.5E-04 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.080 | 17 | 2039760 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
22 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 8 | 93765413 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
19 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 1.000 | 0.160 | 12 | 88093977 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | X | 155524537 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 | 0.700 | 0 |