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 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 7 | 2002 | 2015 | |||||
|
2 | 1.000 | 0.080 | 17 | 17215237 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 6 | 2005 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 17214990 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 2005 | 2015 | |||||
|
2 | 1.000 | 0.080 | 17 | 17216506 | splice region variant | GGA/- | delins | 0.700 | 1.000 | 6 | 2010 | 2017 | |||||
|
3 | 0.925 | 0.080 | 17 | 17224069 | inframe deletion | AAG/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2008 | 2017 | |||
|
1 | 1.000 | 0.080 | 17 | 17213798 | stop gained | G/A;C | snv | 0.700 | 1.000 | 5 | 2006 | 2012 | |||||
|
2 | 1.000 | 0.080 | 17 | 17219188 | frameshift variant | TTCT/- | delins | 8.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2016 | ||||
|
3 | 0.925 | 0.120 | 17 | 17224041 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2013 | 2016 | |||||
|
6 | 0.827 | 0.240 | 17 | 17215188 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 17215032 | frameshift variant | -/ACAG | delins | 0.700 | 1.000 | 5 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.080 | 17 | 17213816 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 5 | 2005 | 2015 | ||||
|
6 | 0.827 | 0.240 | 17 | 17222500 | splice donor variant | C/A;G | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2005 | 2012 | ||||
|
3 | 0.925 | 0.080 | 17 | 17215228 | stop gained | G/A;C;T | snv | 6.0E-05 | 0.700 | 1.000 | 3 | 2002 | 2008 | ||||
|
6 | 0.827 | 0.200 | 17 | 17215000 | missense variant | T/C | snv | 1.9E-04 | 1.7E-04 | 0.710 | 1.000 | 3 | 2013 | 2017 | |||
|
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 | 17215184 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2005 | 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 | 17215299 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2014 | 2018 | |||||
|
3 | 0.882 | 0.120 | 17 | 17222501 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 17214999 | inframe deletion | CTT/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2013 | |||
|
2 | 1.000 | 0.080 | 17 | 17226276 | frameshift variant | T/- | del | 0.700 | 1.000 | 2 | 2005 | 2008 | |||||
|
2 | 1.000 | 0.080 | 17 | 17226252 | frameshift variant | AC/GTG | delins | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
2 | 1.000 | 0.080 | 17 | 17216428 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||
|
2 | 1.000 | 0.080 | 17 | 17223956 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2008 | ||||
|
2 | 1.000 | 0.080 | 17 | 17215282 | frameshift variant | -/GCGGCTGCGTGGACCTC | delins | 0.700 | 1.000 | 2 | 2008 | 2010 |