| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37480768 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 21 | 37480756 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37486513 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37490244 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 103256241 | splice donor variant | G/A;C | snv | 4.4E-06 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 16 | 68337496 | frameshift variant | AG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 16 | 68347257 | frameshift variant | -/GCTCTCCG | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 6 | 79042902 | frameshift variant | -/T | ins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | X | 72495210 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 1 | 16044506 | frameshift variant | -/G | delins | 4.3E-06 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 6 | 35509903 | frameshift variant | -/G | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.200 | 6 | 43041036 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv |
|
0.700 | 0 |