| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 11 | 687941 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 192335441 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 7 | 44284206 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.040 | 11 | 681045 | inframe deletion | CTT/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.240 | 11 | 686925 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.200 | 3 | 48467284 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 13 | 76996086 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.160 | 15 | 72346235 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.200 | 3 | 48466711 | frameshift variant | -/G | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 |