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 | 1.000 | 0.080 | 17 | 61808488 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 2001 | 2014 | |||||
|
3 | 0.925 | 0.200 | 17 | 61847100 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2005 | 2016 | |||||
|
2 | 0.925 | 0.200 | 17 | 61685952 | frameshift variant | AGAT/-;AGATAGAT | delins | 7.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2011 | ||||
|
2 | 0.925 | 0.200 | 17 | 61685949 | frameshift variant | G/- | delins | 0.700 | 1.000 | 4 | 2008 | 2011 | |||||
|
3 | 0.925 | 0.200 | 17 | 61799099 | splice donor variant | C/T | snv | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
3 | 0.925 | 0.200 | 17 | 61801252 | splice donor variant | C/T | snv | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
3 | 0.925 | 0.200 | 17 | 61861446 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
3 | 0.925 | 0.200 | 17 | 61847222 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
4 | 0.882 | 0.280 | 17 | 61685835 | splice donor variant | C/T | snv | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
5 | 0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.200 | 17 | 61683718 | stop gained | C/A | snv | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.200 | 17 | 61683816 | stop gained | A/C | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 0.925 | 0.200 | 17 | 61683736 | stop gained | C/A | snv | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.200 | 17 | 61683838 | frameshift variant | A/- | del | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
3 | 0.925 | 0.200 | 17 | 61684099 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
4 | 0.882 | 0.280 | 17 | 61849155 | frameshift variant | TTCTT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 17 | 61861484 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61859795 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61784403 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61781006 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61859794 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61847214 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61776412 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61847180 | frameshift variant | A/- | delins | 0.700 | 0 |