| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.120 | 1 | 197102332 | frameshift variant | AAGT/- | delins |
|
0.700 | 1.000 | 2 | 2002 | 2009 | |||||||||
|
1.000 | 0.240 | 10 | 92606655 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 5 | 37052453 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.200 | 17 | 67909751 | splice donor variant | GAAGGACCAAGG/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 17 | 67912720 | frameshift variant | TG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 20 | 17970217 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37478285 | stop gained | C/A;G;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 | ||||||||||
|
0.851 | 0.120 | 6 | 132472372 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 |