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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.200 | 1 | 27549742 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.200 | 1 | 27549218 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 15 | 28211095 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.400 | 12 | 49039277 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.851 | 0.360 | 12 | 101642529 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
21 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.120 | 8 | 22162694 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.752 | 0.480 | 17 | 68530405 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | 5 | 140114991 | inframe deletion | TCT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 5 | 140114483 | frameshift variant | TC/-;TCTC | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | 5 | 140114737 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | 5 | 140114470 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
42 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 5 | 140114964 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 5 | 140114651 | missense variant | T/A | snv | 0.700 | 0 |