| 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 | 0.080 | 11 | 5226994 | frameshift variant | -/C | delins | 2.5E-04 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 5226780 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 2 | 60487726 | intron variant | A/C;G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 195760605 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 7209075 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.080 | 11 | 5227020 | start lost | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 13 | 113164394 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 11 | 5226947 | splice region variant | A/C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 12 | 1998 | 2019 | |||||||
|
1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.280 | 1 | 11273836 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 5 | 113387870 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 5 | 143376439 | intron variant | A/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 2 | 60495106 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 2 | 60494176 | intron variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.240 | 1 | 179345018 | synonymous variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.080 | 11 | 5225710 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 60493454 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.080 | 11 | 5225488 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 0 |