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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.240 | 18 | 55229003 | frameshift variant | -/ATTG | delins | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 0.700 | 0 | |||||||
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 | 0.700 | 0 | |||||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.320 | X | 53534144 | missense variant | C/G;T | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
30 | 0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
24 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
29 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.240 | X | 53534615 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.280 | X | 53536488 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | X | 53536580 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | X | 53536600 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.440 | X | 53537626 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | X | 53591113 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.280 | X | 53615786 | missense variant | A/C | snv | 0.700 | 0 |