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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
16 | 0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.240 | 3 | 4815135 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 13 | 38784727 | inframe deletion | TCT/- | delins | 2.8E-05 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.360 | 16 | 89284130 | frameshift variant | TTTTT/-;T;TTTT | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 19 | 43747509 | frameshift variant | GG/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.080 | 19 | 43744768 | splice region variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |