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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37505442 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37480768 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 21 | 37480756 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37486513 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37490244 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37490393 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
0.700 | 0 | ||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.120 | 3 | 48567190 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 19 | 38499718 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv |
|
0.700 | 0 |