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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.780 | 1.000 | 0 | 2001 | 2019 | |||||||
|
0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 3 | 2002 | 2010 | |||||||||
|
0.882 | 0.080 | 11 | 112088972 | missense variant | A/G;T | snv |
|
0.710 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 15 | 63059663 | missense variant | G/A | snv |
|
0.700 | 1.000 | 5 | 2016 | 2018 | |||||||||
|
0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2006 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 151564203 | missense variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2014 | |||||||||
|
12 | 21887879 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 7542003 | missense variant | G/A | snv | 1.6E-03 | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 7583572 | frameshift variant | A/- | del | 5.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
15 | 84840691 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.080 | 1 | 156134529 | splice donor variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 19 | 55151881 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1 | 155140104 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||||
|
19 | 35033599 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.200 | 7 | 151576412 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 31595157 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 29207763 | stop gained | G/A;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
14 | 23420222 | stop gained | C/A | snv | 8.2E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 12 | 32878105 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
X | 154380902 | missense variant | G/A | snv | 8.2E-05 | 8.5E-05 |
|
0.700 | 0 |