| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.240 | 12 | 49185714 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 53386061 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 53386097 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 53207746 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 53391876 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 3 | 47088172 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 219572251 | intron variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.807 | 0.240 | 11 | 31794079 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.070 | 1.000 | 7 | 2001 | 2016 | ||||||||
|
0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.200 | 15 | 45043384 | synonymous variant | C/G;T | snv | 1.1E-05; 1.1E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.200 | 11 | 112088925 | synonymous variant | C/T | snv | 1.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 12 | 12435627 | splice acceptor variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.360 | 19 | 13025409 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv |
|
0.700 | 0 |