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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.080 | 16 | 8768248 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
13 | 0.807 | 0.160 | 17 | 67912720 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 0.080 | 16 | 8781360 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 0.080 | 16 | 8750498 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 4 | 25156851 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 12 | 23665471 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.851 | 0.360 | 12 | 101642529 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
34 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161417083 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 161417794 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161423815 | frameshift variant | -/GCCCGCAGTC | delins | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161423830 | frameshift variant | GC/- | delins | 0.700 | 0 | ||||||||
|
2 | 9 | 127666235 | missense variant | C/G | snv | 0.700 | 0 | ||||||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 |