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 | 0.280 | 11 | 108327665 | frameshift variant | -/A | delins | 0.700 | 1.000 | 8 | 1998 | 2016 | |||||
|
2 | 1.000 | 0.200 | 11 | 108326152 | frameshift variant | -/A | delins | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2012 | |||
|
2 | 1.000 | 0.200 | 11 | 108365415 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2000 | 2011 | |||||
|
2 | 1.000 | 0.200 | 11 | 108365356 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 11 | 108347316 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.200 | 11 | 108320047 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 108325484 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108315864 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 108345833 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108345797 | frameshift variant | -/AA | delins | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1 | 11 | 108335898 | frameshift variant | -/AA | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108310290 | frameshift variant | -/AAAGTAT | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108354841 | stop gained | -/AACT | delins | 0.700 | 1.000 | 2 | 1996 | 1997 | |||||
|
1 | 11 | 108331525 | frameshift variant | -/AG | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108365155 | frameshift variant | -/AGAT | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108315830 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108327694 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108320009 | frameshift variant | -/CT | ins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108365400 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 2003 | 2015 | |||||
|
1 | 11 | 108325408 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108315819 | coding sequence variant | -/GATCTTCTCTTAGAAATCTACAG | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108335893 | frameshift variant | -/GT | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 108310176 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 0.882 | 0.280 | 11 | 108326116 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 11 | 108353859 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 1998 | 1998 |