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 | 1.000 | 0.120 | 18 | 51065563 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 51067077 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 51048696 | frameshift variant | AAGGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 51058181 | frameshift variant | GGCCTCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86919249 | frameshift variant | CTCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86890203 | frameshift variant | TATTAATAACACATGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 86899848 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 86900037 | frameshift variant | TGATGGCAGCATTCGATG/GA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 86921574 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 18 | 51067115 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 10 | 86917292 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 18 | 51054911 | stop gained | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 10 | 86919213 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 10 | 86899822 | frameshift variant | AGAATGTTGTCGGACCAAT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86899875 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86912276 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86912284 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86917188 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86917321 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86919218 | frameshift variant | -/ATTT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 86919259 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 86923393 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 51054787 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 51065596 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 51065604 | frameshift variant | A/- | delins | 0.700 | 0 |