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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 9 | 35805944 | frameshift variant | GTGGTCCTTTC/- | del | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 9 | 35794009 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 0.700 | 0 | |||||||||
|
9 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
21 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.240 | 4 | 523849 | missense variant | C/T | snv | 6.7E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
9 | 0.827 | 0.160 | 9 | 26913948 | splice acceptor variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.280 | 14 | 60648629 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
56 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209918616 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 2 | 209959707 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209820379 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209967586 | stop gained | T/A | snv | 0.700 | 0 |