| 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 | 0.120 | 16 | 2058765 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 2 | 2001 | 2001 | |||||||||
|
1.000 | 0.120 | 16 | 2085238 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 2079357 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 2 | 2001 | 2001 | |||||||||
|
0.925 | 0.120 | 16 | 2084965 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 4 | 2001 | 2013 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 9 | 132905820 | synonymous variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 9 | 132906751 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 9 | 132904435 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 2086834 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 132903649 | splice donor variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.120 | 9 | 132897194 | missense variant | C/A | snv | 2.0E-05 | 7.7E-05 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 16 | 2081734 | stop gained | C/A;G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 4 | 2001 | 2017 | ||||||||
|
0.851 | 0.240 | 16 | 2081646 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.925 | 0.120 | 16 | 2087897 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 2076141 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 9 | 1998 | 2015 | |||||||||
|
1.000 | 0.120 | 16 | 2084552 | missense variant | C/G;T | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 16 | 2083754 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.200 | 16 | 2070570 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 16 | 2072923 | synonymous variant | C/G;T | snv | 4.0E-06; 5.6E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 16 | 2079093 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 2064302 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 16 | 2062533 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 1 | 9722244 | splice region variant | C/T | snv | 5.8E-04 | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 1 | 9722067 | synonymous variant | C/T | snv | 4.4E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |