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 | 0.040 | 1 | 42929242 | missense variant | C/T | snv | 0.810 | 1.000 | 9 | 2003 | 2011 | |||||
|
2 | 0.925 | 0.120 | 1 | 42929637 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 9 | 2003 | 2011 | ||||
|
3 | 0.925 | 0.040 | 1 | 42931047 | missense variant | G/A;T | snv | 2.4E-05 | 0.800 | 1.000 | 9 | 2003 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 42930858 | missense variant | GA/AT | mnv | 0.800 | 1.000 | 9 | 2003 | 2011 | |||||
|
2 | 0.925 | 0.040 | 1 | 42930865 | missense variant | G/A;T | snv | 7.0E-06 | 0.800 | 1.000 | 9 | 2003 | 2011 | ||||
|
8 | 0.776 | 0.360 | 1 | 42930766 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 1 | 42929008 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 2003 | 2011 | |||||
|
5 | 0.827 | 0.360 | 1 | 42943323 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.120 | 1 | 42929018 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.040 | 1 | 42930649 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.360 | 1 | 42927148 | missense variant | G/A;T | snv | 2.8E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 42929605 | inframe deletion | AGACAGCTGCTG/- | del | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.360 | 1 | 42931159 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 42930684 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 1 | 42929244 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.360 | 1 | 42929885 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 1 | 42929211 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 42943239 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.360 | 1 | 42929009 | missense variant | G/A | snv | 0.700 | 0 |