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 | 0.080 | 17 | 17216466 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17215064 | frameshift variant | -/AATCTTAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17215032 | frameshift variant | -/ACAG | delins | 0.700 | 1.000 | 5 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.080 | 17 | 17219101 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17216476 | frameshift variant | -/G | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 17 | 17215282 | frameshift variant | -/GCGGCTGCGTGGACCTC | delins | 0.700 | 1.000 | 2 | 2008 | 2010 | |||||
|
3 | 0.925 | 0.080 | 17 | 17219126 | frameshift variant | -/GTACTCTCTGGCAACACAGGGGCTTTCT | delins | 4.0E-05 | 0.700 | 1.000 | 3 | 2002 | 2016 | ||||
|
2 | 1.000 | 0.080 | 17 | 17226224 | frameshift variant | -/T | delins | 4.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 17213815 | frameshift variant | -/T | ins | 8.0E-06; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 17219153 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17216393 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17215312 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17228079 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17221557 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17219206 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17219017 | splice donor variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 17 | 17223987 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 17221580 | frameshift variant | A/TCT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 17 | 17224069 | inframe deletion | AAG/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2008 | 2017 | |||
|
2 | 1.000 | 0.080 | 17 | 17226252 | frameshift variant | AC/GTG | delins | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 1.000 | 0.080 | 17 | 17222542 | frameshift variant | ACTT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17219083 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 17219148 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17224022 | frameshift variant | ATGATGCTGTACCAGC/CTGAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17215299 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2014 | 2018 |