| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.240 | X | 107640938 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | X | 130137134 | start lost | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 165203923 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 1999 | 1999 | ||||||||
|
0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 13 | 20189197 | stop gained | C/A;T | snv | 6.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 1 | 100484347 | stop gained | C/A;T | snv | 1.6E-04; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 6 | 33165983 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 13 | 20189066 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 12 | 49029400 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 22 | 37978136 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 17 | 18166434 | synonymous variant | C/T | snv | 1.9E-04 | 1.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.320 | 13 | 77903538 | missense variant | C/T | snv | 1.3E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 9 | 127661192 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 1 | 100484440 | stop gained | C/T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 10 | 133370686 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |