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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 1 | 27549742 | frameshift variant | CA/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 1 | 27549218 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.320 | 16 | 89280070 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.440 | 16 | 89284635 | frameshift variant | GTTTT/- | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 6 | 157198907 | splice region variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.360 | 6 | 157084866 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.520 | 20 | 32433408 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
19 | 41984953 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 16 | 56501014 | stop gained | G/A;C | snv | 2.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 |