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 | 1.000 | 0.080 | 17 | 17219060 | frameshift variant | G/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 17 | 17227888 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17227936 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17227899 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17224022 | frameshift variant | ATGATGCTGTACCAGC/CTGAT | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17215237 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 6 | 2005 | 2017 | |||||
|
2 | 1.000 | 0.080 | 17 | 17216466 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17222662 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 17 | 17224107 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17228017 | stop gained | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 17216380 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 17 | 17215228 | stop gained | G/A;C;T | snv | 6.0E-05 | 0.700 | 1.000 | 3 | 2002 | 2008 | ||||
|
1 | 1.000 | 0.080 | 17 | 17219194 | stop gained | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 17215243 | frameshift variant | TGGTCATCCTCACACCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17215258 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17215299 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2014 | 2018 | |||||
|
1 | 1.000 | 0.080 | 17 | 17219083 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 17219101 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17219148 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17215072 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17221604 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17224030 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 17 | 17226200 | frameshift variant | CCTGGCGG/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 17 | 17215000 | missense variant | T/C | snv | 1.9E-04 | 1.7E-04 | 0.710 | 1.000 | 3 | 2013 | 2017 | |||
|
3 | 0.882 | 0.120 | 17 | 17222501 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2012 |