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 | 0.120 | 16 | 89740024 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 89739220 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.120 | 16 | 89739225 | missense variant | C/A | snv | 0.700 | 1.000 | 9 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.120 | 16 | 89740848 | missense variant | A/G | snv | 0.700 | 1.000 | 9 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.120 | 16 | 89739175 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 5 | 2011 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89767208 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2012 | ||||
|
2 | 0.925 | 0.120 | 16 | 89764930 | missense variant | T/G | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2018 | ||||
|
1 | 1.000 | 0.120 | 16 | 89767218 | frameshift variant | A/- | delins | 7.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 89749730 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 89765068 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 3 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 89815903 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89742803 | frameshift variant | TC/-;TCTC | delins | 7.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2016 | ||||
|
1 | 1.000 | 0.120 | 16 | 89758688 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2008 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 89758702 | splice acceptor variant | CTAGAACAGCAAACACTGC/- | delins | 0.700 | 1.000 | 2 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.120 | 16 | 89740818 | frameshift variant | -/T | delins | 0.700 | 1.000 | 2 | 2005 | 2018 | |||||
|
1 | 1.000 | 0.120 | 16 | 89770617 | inframe deletion | CAG/- | delins | 0.700 | 1.000 | 2 | 1999 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 89796020 | splice acceptor variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2015 | ||||
|
2 | 0.925 | 0.120 | 17 | 43092010 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 16 | 89811060 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 16 | 89744993 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 16 | 89746857 | stop gained | G/A;C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 16 | 89816605 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 16 | 74628505 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 16 | 89742869 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89765037 | frameshift variant | TG/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 |