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 | 0.882 | 0.160 | 9 | 127829770 | stop gained | G/A | snv | 0.700 | 1.000 | 9 | 2000 | 2014 | |||||
|
2 | 0.925 | 0.120 | 9 | 127825722 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 1999 | 2012 | |||||
|
2 | 0.925 | 0.120 | 9 | 127826586 | missense variant | C/G | snv | 0.700 | 1.000 | 8 | 1998 | 2014 | |||||
|
2 | 0.925 | 0.120 | 9 | 127824800 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2005 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 127825862 | splice acceptor variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 127843168 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 127819952 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2001 | 2012 | |||||
|
1 | 1.000 | 0.120 | 9 | 127826522 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 1997 | 2005 | |||||
|
1 | 1.000 | 0.120 | 9 | 127824975 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 5 | 2006 | 2014 | |||||
|
2 | 0.925 | 0.120 | 9 | 127824304 | splice region variant | C/T | snv | 0.700 | 1.000 | 4 | 2005 | 2014 | |||||
|
1 | 1.000 | 0.120 | 9 | 127818797 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 4 | 2003 | 2012 | |||||
|
1 | 1.000 | 0.120 | 9 | 127818727 | frameshift variant | TCT/AC | delins | 0.700 | 1.000 | 3 | 2000 | 2007 | |||||
|
1 | 1.000 | 0.120 | 9 | 127819622 | splice region variant | C/A;G | snv | 0.700 | 1.000 | 3 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.120 | 9 | 127843093 | splice donor variant | C/T | snv | 0.700 | 1.000 | 3 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.120 | 9 | 127818379 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 3 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.120 | 9 | 127819904 | frameshift variant | T/- | delins | 0.700 | 1.000 | 3 | 1998 | 2007 | |||||
|
1 | 1.000 | 0.120 | 9 | 127824798 | splice donor variant | A/G | snv | 0.700 | 1.000 | 3 | 2006 | 2012 | |||||
|
2 | 0.925 | 0.120 | 9 | 127819662 | splice acceptor variant | T/C | snv | 4.2E-06 | 0.700 | 1.000 | 3 | 2006 | 2012 | ||||
|
2 | 0.925 | 0.120 | 9 | 127829686 | splice donor variant | C/T | snv | 0.700 | 1.000 | 3 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.120 | 9 | 127854482 | 5 prime UTR variant | G/A | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 9 | 127824314 | frameshift variant | CTTT/- | delins | 0.700 | 1.000 | 2 | 2002 | 2010 | |||||
|
1 | 1.000 | 0.120 | 9 | 127825322 | frameshift variant | CTCAG/- | delins | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.160 | 9 | 127818734 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 9 | 127817203 | splice acceptor variant | C/- | delins | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.120 | 9 | 127818371 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 2 | 1998 | 2005 |