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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2006 | ||||
|
6 | 0.851 | 0.120 | X | 119841185 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
8 | 0.851 | 0.200 | 12 | 101753470 | frameshift variant | GA/- | delins | 5.1E-04 | 3.5E-04 | 0.700 | 1.000 | 3 | 2006 | 2014 | |||
|
11 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | |||||
|
8 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
9 | 0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.925 | 0.200 | 5 | 177283796 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.160 | 1 | 153816571 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 5 | 150228191 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 20 | 50892395 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 1 | 61359232 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
18 | 0.732 | 0.280 | 19 | 52212729 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 10 | 180034 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | 10 | 87933075 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 10 | 87961096 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 0.700 | 0 |