| 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 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.160 | 10 | 79307487 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 15 | 92997299 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.160 | 11 | 70661635 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 12 | 116008442 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 10 | 87933229 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 5 | 140114470 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 20 | 63439610 | inframe deletion | AAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 2 | 199348742 | frameshift variant | AC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins |
|
0.700 | 0 |