| 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 | 1 | 1338099 | frameshift variant | CGGGTGGGGCAGC/- | delins | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 1.000 | 1 | 1338045 | frameshift variant | AA/G | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 1 | 1338097 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 1 | 1338108 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 1 | 1338001 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 1 | 1338087 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 1 | 1338093 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 17 | 44558988 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 1337993 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 1337993 | frameshift variant | CGGTGCTGCCGCTGCC/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 1337999 | frameshift variant | -/CTGCC | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 1338108 | frameshift variant | TGGGGCAGCGGGG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 184170124 | frameshift variant | G/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 44558818 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 44558989 | missense variant | GC/TT | mnv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 17 | 44559332 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 1338054 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 1338033 | frameshift variant | TAGGCAGG/C | delins | 0.700 | 0 |