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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 9 | 78248290 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 9 | 78241729 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | X | 130137134 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 11 | 77179925 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 13 | 20189066 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 3586669 | missense variant | G/A | snv | 7.4E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 15 | 43604750 | stop gained | G/A;C | snv | 1.8E-04 | 0.700 | 0 | |||||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
16 | 0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins | 0.700 | 0 | ||||||||
|
19 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 222297043 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.200 | 10 | 43111219 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.280 | 13 | 77900593 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 22 | 37978136 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | X | 108586729 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
15 | 0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 8 | 18064458 | missense variant | T/C;G | snv | 5.8E-05 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | X | 108597479 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 18166434 | synonymous variant | C/T | snv | 1.9E-04 | 1.0E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 13 | 20189197 | stop gained | C/A;T | snv | 6.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 100484347 | stop gained | C/A;T | snv | 1.6E-04; 4.1E-06 | 0.700 | 0 |