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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.120 | X | 119841185 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
9 | 0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
54 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.851 | 0.040 | 8 | 41933963 | frameshift variant | CACT/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.925 | 18 | 55350409 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
19 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.120 | 2 | 8730956 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
33 | 0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
15 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
13 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.160 | 10 | 75024984 | frameshift variant | GGGT/- | del | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
44 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.120 | 7 | 128857103 | splice acceptor variant | ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG | delins | 0.700 | 0 | ||||||||
|
16 | 0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 14 | 102010824 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
12 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.400 | 16 | 3027379 | missense variant | G/A;T | snv | 1.8E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 |