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 | 1 | 156136103 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.120 | 1 | 156134910 | missense variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 1 | 156135281 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 1 | 156136420 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 1 | 156136414 | missense variant | G/A;C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 1 | 156136422 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.851 | 0.160 | 1 | 156115034 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 1 | 156115067 | splice donor variant | G/A;C;T | snv | 9.5E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156114977 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115012 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156136919 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156137678 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 1 | 156134976 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 1 | 156130688 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115010 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 1 | 156115007 | inframe deletion | GAG/- | delins | 0.700 | 0 |