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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 2 | 47800996 | stop gained | C/A;T | snv | 4.8E-06 | 0.700 | 1.000 | 4 | 2004 | 2013 | ||||
|
3 | 1.000 | 0.160 | 2 | 47801136 | frameshift variant | AG/- | delins | 7.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2017 | ||||
|
3 | 1.000 | 0.160 | 2 | 47806582 | frameshift variant | -/GTTA | delins | 4.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2017 | ||||
|
2 | 1.000 | 0.160 | 2 | 47803663 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2012 | ||||
|
3 | 1.000 | 0.160 | 2 | 47806628 | frameshift variant | -/ATCA | delins | 0.700 | 1.000 | 3 | 2010 | 2014 | |||||
|
3 | 1.000 | 0.160 | 2 | 47799618 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 3 | 2006 | 2015 | |||||
|
4 | 0.925 | 0.160 | 2 | 47799112 | frameshift variant | AGAGA/- | delins | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806630 | frameshift variant | -/GTCA | delins | 0.700 | 1.000 | 3 | 2003 | 2014 | |||||
|
3 | 1.000 | 0.160 | 2 | 47801017 | frameshift variant | AAGAA/- | delins | 7.0E-06 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
3 | 1.000 | 0.160 | 2 | 47798701 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2011 | ||||
|
3 | 1.000 | 0.160 | 2 | 47804983 | frameshift variant | TA/- | delins | 0.700 | 1.000 | 3 | 2004 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806490 | frameshift variant | GGAGACT/- | del | 0.700 | 1.000 | 3 | 2006 | 2010 | |||||
|
3 | 1.000 | 0.160 | 2 | 47799278 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2009 | ||||
|
3 | 1.000 | 0.160 | 2 | 47798881 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
3 | 1.000 | 0.160 | 2 | 47798875 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.160 | 2 | 47801090 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
3 | 1.000 | 0.160 | 2 | 47801125 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2014 | ||||
|
3 | 1.000 | 0.160 | 2 | 47800330 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 2 | 2008 | 2010 | |||||
|
3 | 1.000 | 0.160 | 2 | 47806354 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 47799427 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2009 | ||||
|
3 | 1.000 | 0.160 | 2 | 47806588 | frameshift variant | -/TC | delins | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
3 | 0.882 | 0.200 | 2 | 47806279 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.160 | 2 | 47805628 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.160 | 2 | 47799109 | frameshift variant | AAAGA/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.160 | 2 | 47804934 | stop gained | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |