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 | 0.882 | 0.160 | 1 | 153816571 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.200 | 1 | 61359232 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1 | 39854058 | missense variant | A/G | snv | 1.2E-05 | 0.700 | 0 | |||||||||
|
8 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 11114402 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
33 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.320 | 1 | 27549887 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 2 | 199308845 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
14 | 0.807 | 0.240 | 2 | 218814379 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.200 | 3 | 179199160 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.200 | 5 | 177283796 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 5 | 150228191 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
12 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
29 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 6 | 43007265 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 |