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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 17 | 31181484 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31336706 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31227581 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31229237 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31325888 | stop gained | -/AAT | ins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.120 | 17 | 31357057 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 17 | 31336460 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31230342 | frameshift variant | -/GGAGAGATGACCTCTCATTTTGC | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 17 | 31327698 | frameshift variant | -/T | delins | 0.700 | 1.000 | 2 | 2000 | 2008 | |||||
|
1 | 17 | 31350282 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31235994 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31235722 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31336793 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31258435 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 17 | 31330415 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 17 | 31235949 | frameshift variant | -/TTATTACGAATTG | ins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31336845 | stop gained | -/TTTAA | ins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 17 | 31229289 | frameshift variant | A/- | del | 0.700 | 1.000 | 4 | 2000 | 2011 | |||||
|
1 | 17 | 31265266 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||||
|
2 | 1.000 | 0.120 | 17 | 31230302 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 17 | 31201480 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1 | 17 | 31219048 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31229367 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 31349125 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 17 | 31163214 | frameshift variant | A/- | delins | 0.700 | 0 |