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 | 5 | 112801310 | stop gained | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.120 | 5 | 112837690 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112821985 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112842570 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 1992 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112835083 | frameshift variant | AACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838779 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112819276 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112834939 | splice acceptor variant | TTTCTTACTAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112841841 | frameshift variant | ATAC/TGT | delins | 0.700 | 1.000 | 7 | 1992 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112839951 | frameshift variant | CCTAAAA/AAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112839998 | frameshift variant | GCAAGCTGCAGTAAA/C | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112767198 | frameshift variant | ATAG/- | delins | 0.700 | 1.000 | 1 | 1993 | 1993 | |||||
|
1 | 1.000 | 0.120 | 5 | 112818987 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112767318 | stop gained | C/A | snv | 0.700 | 1.000 | 2 | 2001 | 2013 | |||||
|
2 | 0.925 | 0.120 | 5 | 112835163 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827225 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112767264 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 5 | 112834985 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112839511 | frameshift variant | TAAAA/- | delins | 0.700 | 1.000 | 8 | 1992 | 2015 | |||||
|
2 | 1.000 | 0.120 | 5 | 112819250 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112835166 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 1.000 | 0.120 | 5 | 112840055 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 9 | 1992 | 2011 | |||||
|
2 | 1.000 | 0.120 | 5 | 112835164 | missense variant | A/C;G | snv | 0.700 | 1.000 | 5 | 2004 | 2016 | |||||
|
2 | 1.000 | 0.120 | 5 | 112775703 | frameshift variant | CTA/TT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112828885 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2010 | 2014 |