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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
8 | 0.827 | 0.240 | 10 | 87894110 | splice donor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 17 | 31265331 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
7 | 0.925 | X | 20167669 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
8 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 11114402 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
33 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 7 | 105107527 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
32 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 9 | 137163846 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.200 | 11 | 124924796 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 17 | 44911238 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.200 | 20 | 19992201 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
9 | 0.851 | 0.320 | 9 | 2115927 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.160 | 10 | 87925530 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.807 | 0.240 | 2 | 218814379 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 |