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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 12 | 13571859 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 20 | 50894041 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 6 | 157207497 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33739390 | stop gained | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165374775 | frameshift variant | GGAGTGAATCTCT/- | del | 0.700 | 0 | |||||||||
|
2 | 1.000 | 22 | 41147864 | frameshift variant | -/G | delins | 0.700 | 0 | |||||||||
|
15 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 7 | 105107527 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
7 | 0.807 | 0.120 | 1 | 42929018 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 12 | 13571891 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 11 | 118476949 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.080 | 7 | 23266401 | non coding transcript exon variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 |