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 | 0.925 | 0.120 | 16 | 28482161 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1997 | 2009 | ||||
|
2 | 0.925 | 0.120 | 13 | 77000824 | frameshift variant | T/- | delins | 0.700 | 1.000 | 6 | 1998 | 2013 | |||||
|
6 | 0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 | 0.700 | 1.000 | 6 | 1997 | 2013 | ||||
|
2 | 0.925 | 0.120 | 13 | 77000918 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 5 | 2002 | 2013 | |||||
|
2 | 0.925 | 0.120 | 20 | 63930871 | inframe deletion | CTC/- | delins | 0.700 | 1.000 | 5 | 2011 | 2013 | |||||
|
2 | 0.925 | 0.120 | 11 | 6615172 | missense variant | G/A | snv | 2.4E-05 | 0.700 | 1.000 | 4 | 1999 | 2013 | ||||
|
4 | 0.851 | 0.120 | 1 | 40089495 | stop gained | G/A;C | snv | 2.4E-04; 1.2E-05 | 0.710 | 1.000 | 4 | 1998 | 2014 | ||||
|
2 | 0.925 | 0.120 | 11 | 6617695 | stop gained | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.120 | 1 | 40078659 | splice acceptor variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2007 | ||||
|
3 | 0.882 | 0.120 | 8 | 1771124 | missense variant | C/G;T | snv | 1.0E-04; 2.4E-05 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
2 | 0.925 | 0.120 | 11 | 6617430 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 6618809 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2013 | ||||
|
2 | 0.925 | 0.120 | 13 | 77000667 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 2 | 1998 | 2012 | |||||
|
2 | 0.925 | 0.120 | 11 | 6616004 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.120 | 11 | 6617045 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 16 | 28486388 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.120 | 16 | 28486427 | stop gained | G/T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 16 | 28482102 | splice region variant | T/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 13 | 76996083 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.120 | 17 | 44351438 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 11 | 6619191 | splice region variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 16 | 28482353 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 | 0.700 | 0 |