| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.400 | X | 153743532 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.280 | 20 | 32433481 | frameshift variant | AG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins |
|
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 | |||||||||
|
0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
0.700 | 0 |