Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | X | 153952053 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.280 | 6 | 157207395 | frameshift variant | CC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 2 | 199272423 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.280 | 9 | 2086854 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 210920032 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1 | 22086463 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.080 | 1 | 22086507 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 22086856 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 16 | 23544677 | missense variant | G/A | snv | 1.5E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.160 | 2 | 240775863 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 256001 | missense variant | C/T | snv | 7.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 13 | 26337623 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.400 | 16 | 3027379 | missense variant | G/A;T | snv | 1.8E-04; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 11 | 30336665 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.240 | 11 | 31801619 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 18 | 33739086 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 22 | 36292059 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 5 | 37044480 | missense variant | G/C;T | snv |
|
0.700 | 0 |