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 | 89739218 | frameshift variant | TACATGTCCACAGC/- | del | 8.0E-06 | 0.700 | 1.000 | 2 | 1997 | 2008 | ||||
|
1 | 1.000 | 0.120 | 16 | 89758648 | frameshift variant | T/- | del | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 16 | 89765037 | frameshift variant | TG/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89773341 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.120 | 3 | 10063808 | frameshift variant | A/- | del | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 16 | 89739285 | frameshift variant | G/- | del | 3.5E-05 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
1 | 1.000 | 0.120 | 16 | 89742820 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89782879 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89778980 | stop gained | ACGTAG/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 89795922 | frameshift variant | GAGT/- | delins | 3.6E-05 | 3.5E-05 | 0.700 | 1.000 | 5 | 1997 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 89739175 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 5 | 2011 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89761970 | stop gained | -/TCAGGTTGAATTTCCAGCT | delins | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 4 | 1997 | 2015 | |||
|
2 | 0.925 | 0.120 | 16 | 89767206 | frameshift variant | AG/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 89767218 | frameshift variant | A/- | delins | 7.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2009 | ||||
|
2 | 0.925 | 0.120 | 16 | 89740842 | inframe deletion | GAA/- | delins | 1.0E-04 | 9.8E-05 | 0.700 | 1.000 | 3 | 2008 | 2014 | |||
|
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 | 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 | |||||
|
2 | 0.925 | 0.120 | 16 | 89792034 | frameshift variant | CAAC/- | delins | 7.2E-05 | 5.6E-05 | 0.700 | 1.000 | 2 | 2011 | 2014 | |||
|
2 | 0.925 | 0.120 | 16 | 89792519 | frameshift variant | CT/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2008 | |||
|
1 | 1.000 | 0.120 | 16 | 89742869 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89770613 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 16 | 89795917 | frameshift variant | GGCTGTG/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 89810953 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 1997 | 1997 |