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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 6 | 129464289 | splice acceptor variant | TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 93804851 | inframe insertion | -/TATGAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 11 | 118496323 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 16 | 23406263 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 16 | 23452993 | start lost | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 17 | 7586699 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 13230191 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 20 | 49374625 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 |