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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 3 | 97788004 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 66523842 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 12 | 76347724 | frameshift variant | ATAAA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 66526708 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 15 | 72727990 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 76345955 | frameshift variant | C/- | delins | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 9 | 116698130 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 66510646 | start lost | AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 66523453 | splice region variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 66529817 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 15 | 72709480 | intron variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 15 | 72712308 | splice donor variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 15 | 72722792 | splice acceptor variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 15 | 72712242 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 20 | 10413074 | frameshift variant | ACTACTAAAGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10412638 | frameshift variant | -/CAGG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 66510675 | frameshift variant | -/C | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.280 | 14 | 88841196 | missense variant | G/A | snv | 6.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 15 | 72731574 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 56514574 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 7 | 33336487 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 33152852 | splice donor variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 122741996 | stop gained | C/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 122742155 | frameshift variant | TT/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 121855547 | frameshift variant | -/TT | ins | 0.700 | 0 |