| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 6 | 73644582 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 19 | 49829816 | missense variant | C/T | snv | 8.7E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 256001 | missense variant | C/T | snv | 7.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | X | 41343802 | stop gained | G/A;T | snv | 5.6E-06 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 16 | 78424869 | splice acceptor variant | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 19 | 43747509 | frameshift variant | GG/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 19 | 43744768 | splice region variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | X | 71132465 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 9 | 131199023 | intron variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
11 | 64298178 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
0.700 | 0 |