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 | 2 | 219420116 | frameshift variant | G/- | del | 7.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2012 | ||||||
|
1 | 2 | 178702186 | frameshift variant | CTGCCGTGCT/- | delins | 0.700 | 1.000 | 5 | 2002 | 2012 | |||||||
|
1 | 1 | 201364365 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2004 | 2014 | |||||||
|
1 | 19 | 55154035 | stop gained | C/A;T | snv | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||
|
1 | 2 | 178621517 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||
|
1 | 1 | 156134943 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 3 | 2000 | 2001 | |||||||
|
1 | 14 | 23424770 | missense variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||
|
1 | 1 | 156137653 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2008 | 2016 | |||||||
|
1 | 15 | 63057019 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
1 | 1 | 156134964 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2003 | 2008 | |||||||
|
1 | 6 | 7562762 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2000 | 2006 | |||||||
|
1 | 1 | 156135922 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2000 | 2012 | |||||||
|
1 | 1 | 201364357 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 2 | 2008 | 2009 | ||||||
|
1 | 1 | 201364327 | missense variant | G/A | snv | 3.2E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||||
|
1 | 1 | 156136049 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2006 | 2011 | |||||||
|
1 | 14 | 23425358 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2017 | ||||||
|
1 | 10 | 110821880 | frameshift variant | CC/G | delins | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
2 | 1.000 | 10 | 119676617 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
1 | 18 | 31531044 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 2 | 178559769 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 12 | 92411657 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 21 | 34966619 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 1 | 237496705 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 117678 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 10 | 119651752 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |