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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.160 | 2 | 47475036 | frameshift variant | -/A | ins | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 2 | 47480759 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47480824 | stop gained | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47412420 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47478395 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 47429867 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 47478295 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47403382 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47480820 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 1998 | 2008 | |||||||
|
1 | 2 | 47403343 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47410236 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47476445 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47414334 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47403223 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 2 | 47410163 | frameshift variant | -/GT | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47429886 | frameshift variant | -/T | delins | 0.700 | 1.000 | 5 | 2003 | 2005 | |||||
|
2 | 1.000 | 0.160 | 2 | 47476495 | frameshift variant | -/T | delins | 0.700 | 1.000 | 2 | 2005 | 2009 | |||||
|
3 | 1.000 | 0.160 | 2 | 47470989 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 2 | 47414351 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47480768 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47445574 | frameshift variant | -/T;TT | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403384 | frameshift variant | -/TC | ins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47463135 | frameshift variant | -/TT | ins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47463054 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 47414407 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 |