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 | 1 | 75733625 | splice donor variant | G/- | delins | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 75734827 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 5 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 75733561 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 75761365 | missense variant | T/A | snv | 3.6E-05 | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75740091 | missense variant | A/G | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75734846 | missense variant | G/A | snv | 1.4E-04 | 2.8E-05 | 0.700 | 1.000 | 4 | 2008 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 75749553 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75734849 | frameshift variant | CTGA/- | delins | 0.700 | 1.000 | 4 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761366 | missense variant | A/C | snv | 0.700 | 1.000 | 3 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761276 | frameshift variant | TTAG/- | delins | 0.700 | 1.000 | 3 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761120 | splice acceptor variant | A/C | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 75762744 | missense variant | T/C | snv | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 3 | 2010 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 75749467 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 3 | 2010 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 75733629 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 75733526 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 2 | 2005 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761173 | stop gained | -/TAGAATGAGTTAC | delins | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 1984 | 1991 | |||
|
1 | 1.000 | 0.080 | 1 | 75762704 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 75761221 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1994 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 75740112 | splice donor variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 75761165 | frameshift variant | TTGAACTAGCTAGAATGAGTTA/- | del | 0.700 | 1.000 | 2 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 75762754 | stop gained | C/A;T | snv | 3.6E-05 | 0.700 | 1.000 | 2 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 75761116 | splice region variant | T/G | snv | 8.0E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 75761371 | splice donor variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 75761289 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 75732742 | splice donor variant | G/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |