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 | 0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
8 | 0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins | 0.700 | 0 | ||||||||
|
18 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
9 | 0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 16 | 70482809 | stop gained | C/A | snv | 5.6E-05 | 0.700 | 0 | |||||||
|
12 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 19 | 43511436 | splice donor variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
38 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.120 | X | 154032206 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
23 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
24 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
11 | 0.827 | 0.240 | 16 | 67842794 | missense variant | C/G;T | snv | 1.6E-03 | 6.0E-04 | 0.700 | 0 | ||||||
|
23 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2008 | |||
|
7 | 0.925 | 0.040 | 7 | 44241784 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |