| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.320 | 8 | 99096433 | splice donor variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.807 | 0.280 | 16 | 2496872 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.882 | 0.280 | 16 | 2496266 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.827 | 0.280 | 16 | 2498262 | frameshift variant | T/- | del | 7.4E-05 | 4.9E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.882 | 0.280 | 16 | 2499425 | splice region variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.882 | 0.280 | 16 | 2496476 | missense variant | G/A | snv | 4.1E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496267 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2498253 | missense variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.280 | 16 | 53619047 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 12 | 88118660 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 12 | 88071860 | stop gained | G/A;T | snv | 2.1E-05; 5.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | X | 13739017 | frameshift variant | GAAA/- | delins |
|
0.700 | 1.000 | 2 | 2008 | 2014 | |||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 9 | 2648349 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 13 | 23353788 | stop gained | G/A;C | snv | 1.6E-05; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 3 | 193637279 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 5 | 168486503 | missense variant | A/C;G;T | snv | 4.2E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.925 | 0.120 | 10 | 71825892 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 15 | 68211844 | frameshift variant | -/G | delins | 2.4E-05; 2.8E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 9 | 131523038 | frameshift variant | TC/-;TCTC | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 1 | 40092486 | stop gained | A/C | snv |
|
0.700 | 0 |