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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 21 | 37490353 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 6 | 10876442 | splice donor variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
8 | 0.882 | 0.200 | 3 | 48466711 | frameshift variant | -/G | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
6 | 21 | 37490451 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
6 | 21 | 37496249 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 126559300 | frameshift variant | -/G | delins | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
10 | 0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 | 0.700 | 1.000 | 3 | 2012 | 2014 | |||
|
2 | 1.000 | 20 | 63406659 | frameshift variant | -/GCCCA | delins | 0.700 | 1.000 | 3 | 2003 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 4 | 47426318 | 3 prime UTR variant | -/T | delins | 5.1E-02 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
4 | 1.000 | 9 | 109149675 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 126595148 | frameshift variant | -/T | delins | 6.0E-06 | 0.700 | 0 | |||||||||
|
19 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 1.000 | 20 | 63438654 | inframe insertion | -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC | delins | 0.700 | 0 | |||||||||
|
8 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
12 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 166013745 | frameshift variant | A/- | del | 0.700 | 0 |