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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 8 | 143816613 | frameshift variant | TGGCCTTATGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 8 | 143817380 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 143818042 | frameshift variant | CCTGCCCTATGTTGCTGGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 152314342 | stop gained | T/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 |