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 | 156130724 | inframe deletion | AGCGCACGCTGGAGG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156134954 | inframe deletion | GAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156135208 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156135214 | inframe deletion | GAACAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156136111 | inframe deletion | GAG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156136219 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 156136045 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156115022 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156138575 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 1 | 156137212 | missense variant | C/G;T | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 1 | 156134839 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 1 | 156134860 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |