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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 2 | 32154373 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2002 | 2006 | |||||
|
1 | 1.000 | 0.080 | 2 | 32141902 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 3 | 2001 | 2010 | |||||
|
2 | 0.925 | 0.120 | 2 | 32114826 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 32126952 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.080 | 2 | 32144936 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2002 | 2012 | |||||
|
3 | 0.925 | 0.240 | 2 | 32063965 | missense variant | C/A | snv | 3.9E-04 | 6.2E-04 | 0.700 | 1.000 | 2 | 2004 | 2006 | |||
|
1 | 1.000 | 0.080 | 2 | 32127013 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2000 | 2011 | |||||
|
1 | 1.000 | 0.080 | 2 | 32141904 | missense variant | G/C | snv | 0.700 | 1.000 | 2 | 2006 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 32087520 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 32144986 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2000 | 2009 | |||||
|
1 | 1.000 | 0.080 | 2 | 32136969 | splice region variant | AAGT/- | delins | 0.700 | 1.000 | 2 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 32147259 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2000 | 2005 | |||||
|
3 | 0.882 | 0.280 | 2 | 32063962 | stop gained | C/A;T | snv | 4.1E-06; 4.6E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 2 | 32141903 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 32064155 | frameshift variant | GGCGGCGAGGCCG/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 32087497 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 2 | 32136973 | splice region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 2 | 32143372 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 2 | 32143373 | frameshift variant | GAAG/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.080 | 2 | 32154372 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 2 | 32087498 | frameshift variant | AGAA/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 32089580 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.080 | 2 | 32136952 | splice donor variant | -/AATAGAATTTGATGGTG | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 32147216 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 32128480 | splice donor variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 |