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 | 0.160 | 10 | 97611612 | inframe deletion | AGG/- | delins | 0.700 | 1.000 | 8 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.160 | 10 | 97601884 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 10 | 97611550 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.160 | 10 | 97598790 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 10 | 97598871 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 10 | 97601958 | inframe deletion | TGC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 10 | 97599088 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 97599152 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 97601990 | splice donor variant | GG/TT | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 97584861 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 97599744 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 10 | 97600165 | splice donor variant | T/A;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97599158 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 10 | 97601855 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97599194 | frameshift variant | C/- | delins | 4.0E-06 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 10 | 97601889 | missense variant | G/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 10 | 97611514 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 10 | 97599094 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 10 | 97584819 | frameshift variant | -/C | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97584709 | frameshift variant | -/TGGTC | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97584912 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 10 | 97601952 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 10 | 97601991 | splice donor variant | G/A;T | snv | 4.1E-06; 6.6E-05 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.160 | 10 | 97584820 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 10 | 97584810 | missense variant | C/A;T | snv | 1.2E-05; 1.7E-04 | 0.700 | 1.000 | 3 | 2012 | 2015 |