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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 11 | 67611934 | missense variant | T/C | snv |
|
0.710 | 1.000 | 0 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 11 | 67612225 | missense variant | C/T | snv | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 1999 | 2015 | |||||||
|
0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2005 | 2016 | |||||||
|
0.925 | 0.120 | 1 | 161210599 | missense variant | T/C | snv | 3.5E-04 | 1.1E-04 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1.000 | 0.040 | 11 | 67611972 | missense variant | C/T | snv | 1.2E-04 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2008 | 2013 | |||||||
|
0.925 | 0.080 | 17 | 81715568 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 14 | 31599308 | missense variant | T/C | snv | 1.5E-04 | 5.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 11 | 126275000 | frameshift variant | -/AGTG | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.120 | 19 | 19526257 | missense variant | G/A;T | snv | 2.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 20 | 13808873 | missense variant | G/T | snv | 4.0E-06; 4.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 5 | 53646371 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 53560706 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 14 | 31850092 | non coding transcript exon variant | T/C | snv | 3.4E-03 | 3.4E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 53646345 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 11 | 47580977 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.040 | 2 | 201078946 | missense variant | T/C | snv | 8.5E-04 | 1.1E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 53683157 | frameshift variant | -/AAGTC | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 206144919 | missense variant | T/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | MT | 5132 | frameshift variant | AA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 11 | 67611982 | splice region variant | A/C | snv | 6.0E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 11 | 67608562 | missense variant | T/A;C | snv | 1.6E-05; 5.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | MT | 4810 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | MT | 11777 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 11 | 126273068 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 5 | 53603451 | splice acceptor variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 |