Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.882 | 0.120 | 11 | 686986 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2014 | 2017 | ||||
|
5 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 0.700 | 1.000 | 3 | 2011 | 2012 | ||||
|
9 | 0.807 | 0.160 | 12 | 89492071 | stop gained | C/A;G;T | snv | 8.5E-06; 2.7E-04 | 0.700 | 1.000 | 3 | 2014 | 2014 | ||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
5 | 1.000 | 0.120 | 1 | 197102332 | frameshift variant | AAGT/- | delins | 0.700 | 1.000 | 2 | 2002 | 2009 | |||||
|
5 | 1.000 | 0.240 | 10 | 92606655 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.200 | 8 | 93815388 | missense variant | G/A | snv | 8.0E-06 | 4.2E-05 | 0.700 | 1.000 | 2 | 1999 | 2017 | |||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.120 | 5 | 37052453 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.851 | 0.200 | 17 | 67909751 | splice donor variant | GAAGGACCAAGG/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.807 | 0.160 | 17 | 67912720 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.120 | 20 | 17970217 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
15 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.925 | 0.200 | 14 | 28767822 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.827 | 0.200 | 9 | 86266174 | missense variant | C/T | snv | 4.2E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.320 | 8 | 99156693 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
16 | 0.827 | 0.280 | 17 | 67975841 | missense variant | T/C;G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 |