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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.851 | 0.200 | 2 | 219568211 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.807 | 0.280 | 2 | 142956235 | stop gained | T/A | snv | 7.2E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.807 | 0.280 | 2 | 143040430 | frameshift variant | TTTAAGC/- | delins | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
20 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.827 | 0.240 | 22 | 41173768 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 69616488 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.240 | 9 | 137108433 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 11 | 5226724 | frameshift variant | CATAA/TGATGCC | delins | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 22 | 41527949 | missense variant | C/G;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 0 | |||||||
|
11 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 22 | 41526319 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.240 | 12 | 51806762 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.360 | 6 | 157181155 | frameshift variant | AA/- | delins | 0.700 | 0 |