| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 9 | 131508926 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 20 | 32433481 | frameshift variant | AG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.807 | 0.400 | X | 153743532 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv |
|
0.700 | 0 |