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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
16 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
18 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 3 | 142568059 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 1 | 149923568 | frameshift variant | TCGAGGGGGAACTGGTGGCC/- | delins | 0.700 | 0 | ||||||||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.360 | 2 | 15945602 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
19 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.240 | 22 | 18078405 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.120 | 2 | 199272423 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
21 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
20 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
21 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 |