| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.200 | 2 | 219568211 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.200 | 6 | 43040335 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.200 | 6 | 43052582 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 2 | 199308845 | frameshift variant | TC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | X | 20167669 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 14 | 102010824 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 14 | 35077175 | frameshift variant | -/A | delins |
|
0.700 | 0 |