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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.240 | 12 | 32731362 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
13 | 0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
4 | 0.882 | 0.120 | 20 | 17970217 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | X | 54812169 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | X | 34656995 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
15 | 0.807 | 0.120 | 1 | 155612098 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
19 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 140679127 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 17 | 7586766 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 17 | 42688979 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 8 | 60281047 | splice donor variant | C/T | snv | 0.700 | 0 |