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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.320 | 2 | 169290935 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 2 | 169212088 | missense variant | C/T | snv | 1.0E-03 | 7.7E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.320 | 2 | 169259064 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169256237 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169257123 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.320 | 2 | 169152823 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169290999 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169282951 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169280348 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169201627 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169198842 | frameshift variant | TAAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169185989 | frameshift variant | CT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169185863 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169178001 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 2 | 169169727 | frameshift variant | AACA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 2 | 169140515 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 2 | 169318886 | splice acceptor variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2007 | ||||
|
2 | 0.925 | 0.320 | 2 | 169205630 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2007 | 2007 |