| 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 | 1 | 15972817 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
10 | 74083453 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.040 | 10 | 74112086 | missense variant | C/T | snv | 9.9E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
10 | 74096084 | intron variant | C/T | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.160 | 10 | 74070712 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 19 | 29213078 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 29207763 | stop gained | G/A;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 29208159 | splice acceptor variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.780 | 1.000 | 8 | 2001 | 2019 | |||||||
|
0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2018 | 2020 | |||||||||
|
0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.120 | 18 | 31595160 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.882 | 0.200 | 18 | 31592944 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.827 | 0.160 | 18 | 31595184 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.120 | 18 | 31595157 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.700 | 0 | |||||||||||
|
2 | 178779110 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.160 | 2 | 178591418 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 178598969 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
2 | 178535728 | stop gained | C/T | snv |
|
0.700 | 0 |