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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 11 | 68930251 | non coding transcript exon variant | C/A;T | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 18 | 10714931 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 20 | 63438654 | inframe insertion | -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC | delins |
|
0.700 | 0 | |||||||||||||
|
0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 14 | 74494329 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.280 | 7 | 23165737 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 |