| 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 | 1 | 156868246 | missense variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
0.925 | 0.120 | 16 | 88841948 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 14 | 1995 | 2017 | |||||||
|
0.925 | 9 | 128332219 | missense variant | C/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 13 | 2005 | 2017 | |||||||||
|
0.827 | 0.320 | 7 | 5528536 | missense variant | G/A | snv |
|
0.700 | 1.000 | 10 | 1999 | 2017 | |||||||||
|
0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 |
|
0.700 | 1.000 | 9 | 2001 | 2016 | |||||||
|
0.790 | 0.080 | 17 | 15239575 | missense variant | G/A | snv |
|
0.700 | 1.000 | 20 | 1992 | 2015 | |||||||||
|
0.882 | 0.120 | 17 | 80213815 | missense variant | C/A;T | snv | 4.4E-06; 3.3E-04 |
|
0.700 | 1.000 | 8 | 2003 | 2018 | ||||||||
|
0.925 | 0.120 | 17 | 80210622 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 8 | 2003 | 2018 | |||||||
|
0.925 | 0.160 | 13 | 23336737 | frameshift variant | T/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 21 | 1993 | 2016 | ||||||||
|
0.925 | 0.160 | 19 | 7528881 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 11 | 1998 | 2016 | |||||||||
|
0.925 | 22 | 23834143 | missense variant | G/A | snv |
|
0.700 | 1.000 | 5 | 2012 | 2014 | ||||||||||
|
0.925 | 0.080 | X | 53199128 | missense variant | C/T | snv |
|
0.700 | 1.000 | 12 | 2005 | 2016 | |||||||||
|
0.925 | 21 | 37480659 | stop gained | C/T | snv |
|
0.700 | 1.000 | 18 | 1990 | 2016 | ||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 1.000 | 11 | 2001 | 2017 | |||||||||
|
1.000 | 2 | 199349006 | stop gained | G/A | snv |
|
0.700 | 1.000 | 21 | 1989 | 2017 | ||||||||||
|
0.925 | 0.120 | 15 | 40729955 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2014 | 2015 | |||||||||
|
0.925 | X | 41346946 | missense variant | C/T | snv |
|
0.700 | 1.000 | 16 | 1989 | 2017 | ||||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
0.925 | 0.200 | 18 | 55228999 | missense variant | C/T | snv |
|
0.700 | 1.000 | 22 | 2007 | 2017 | |||||||||
|
0.925 | 0.200 | 2 | 199348709 | missense variant | G/A | snv |
|
0.700 | 1.000 | 21 | 1989 | 2017 | |||||||||
|
0.882 | 0.080 | 8 | 60828682 | missense variant | C/T | snv |
|
0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
0.925 | 0.120 | 17 | 31235639 | frameshift variant | TTTG/- | delins |
|
0.700 | 1.000 | 34 | 1967 | 2017 | |||||||||
|
1.000 | 13 | 110181389 | missense variant | C/T | snv |
|
0.700 | 1.000 | 18 | 1984 | 2015 | ||||||||||
|
0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv |
|
0.700 | 0 |