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 | 11 | 2588799 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 2847812 | inframe deletion | CCA/- | delins | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.120 | 21 | 34370639 | missense variant | T/C | snv | 2.6E-04 | 2.3E-04 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 7 | 150958220 | frameshift variant | -/GGCGATGGGAGCTGGCCGGG | delins | 0.700 | 0 | ||||||||
|
1 | 7 | 150958163 | frameshift variant | CGCG/GCTTTT | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150958116 | frameshift variant | TCGGCCG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150952777 | frameshift variant | -/CAGG | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150947794 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150947782 | frameshift variant | TCTCCCC/- | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150947512 | splice region variant | -/CTGC | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150947400 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150947380 | frameshift variant | -/CCGCC;CGCC | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 7 | 150947367 | frameshift variant | -/TCGCCCCG | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 7 | 150947344 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150974765 | inframe insertion | -/ATCTGCGCG | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150959670 | frameshift variant | -/CCAC | ins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150952840 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150951578 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150951013 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 150974918 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 7 | 150974912 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 7 | 150974864 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 11 | 2445260 | frameshift variant | GCCCGGCGCCCCAGGTCCCGCGC/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 4 | 113355900 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 12 | 5044419 | missense variant | C/T | snv | 4.4E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 |