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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 8 | 143816613 | frameshift variant | TGGCCTTATGA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 2 | 39007168 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2007 | 2007 | |||||
|
4 | 1.000 | 10 | 79216266 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.120 | 8 | 143818042 | frameshift variant | CCTGCCCTATGTTGCTGGG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 8 | 143817380 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 11 | 44107723 | missense variant | C/T | snv | 6.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 0.700 | 0 | ||||||||
|
6 | 21 | 37493101 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
6 | 21 | 37490451 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
6 | 21 | 37490353 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
6 | 21 | 37496249 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
7 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins | 0.700 | 0 | ||||||||
|
7 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
7 | 1.000 | 21 | 37505352 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
8 | 0.882 | 0.080 | 6 | 98875675 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.925 | 0.160 | 1 | 152314342 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.925 | 3 | 9741340 | frameshift variant | AG/T | delins | 0.700 | 0 | |||||||||
|
10 | 0.776 | 0.320 | 8 | 60781285 | frameshift variant | AA/T | delins | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 |