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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 2 | 47806496 | frameshift variant | -/ATTA | delins | 0.700 | 1.000 | 3 | 2010 | 2012 | |||||
|
5 | 0.882 | 0.160 | 2 | 47795903 | stop gained | C/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 2004 | 2013 | |||
|
4 | 0.925 | 0.160 | 2 | 47804984 | frameshift variant | -/A;AA | delins | 0.700 | 1.000 | 3 | 2007 | 2010 | |||||
|
5 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 2 | 1999 | 2008 | |||||
|
4 | 0.925 | 0.160 | 2 | 47804908 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 2 | 1999 | 2010 | |||||
|
4 | 0.925 | 0.160 | 2 | 47799427 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2011 | ||||
|
6 | 0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2012 | 2015 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806490 | frameshift variant | GGAGACT/- | del | 0.700 | 1.000 | 2 | 2006 | 2008 | |||||
|
4 | 0.925 | 0.160 | 2 | 47800211 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2017 | ||||
|
3 | 0.925 | 0.160 | 2 | 47800517 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806282 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.160 | 2 | 47799788 | stop gained | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.160 | 2 | 47800815 | frameshift variant | AA/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.160 | 2 | 47799332 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.160 | 2 | 47798890 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47803459 | frameshift variant | GTCCTATG/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47803615 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806310 | frameshift variant | GTAGAAGATTA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806485 | frameshift variant | CCAGGAG/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47806643 | splice donor variant | -/ATTT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47783288 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47783357 | frameshift variant | -/CTTCCCCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47783445 | splice donor variant | TCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47790975 | stop gained | C/A;T | snv | 0.700 | 0 |