| 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 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 9 | 2000 | 2013 | ||||||||
|
0.925 | 0.080 | 10 | 86687218 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 8 | 2005 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 38580382 | missense variant | G/A | snv | 7.6E-05 | 1.1E-04 |
|
0.700 | 1.000 | 8 | 2008 | 2015 | |||||||
|
1.000 | 0.080 | 1 | 229431994 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 6 | 2003 | 2015 | |||||||||
|
X | 154380232 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 6 | 1975 | 1999 | |||||||||||
|
0.925 | 0.120 | 19 | 38534775 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 5 | 2007 | 2013 | ||||||||
|
2 | 219420116 | frameshift variant | G/- | del | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2000 | 2012 | ||||||||||
|
0.882 | 0.160 | 19 | 38496466 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv |
|
0.700 | 1.000 | 4 | 1996 | 2017 | |||||||||
|
0.882 | 0.160 | 14 | 23415476 | inframe deletion | TCT/-;TCTTCT | delins |
|
0.700 | 1.000 | 4 | 2003 | 2012 | |||||||||
|
0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2009 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2007 | 2017 | |||||||||
|
X | 154381072 | frameshift variant | -/TGGGC | delins |
|
0.700 | 1.000 | 3 | 1995 | 2007 | |||||||||||
|
1.000 | 0.080 | 1 | 156137233 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
X | 154379688 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 2 | 1995 | 2007 | |||||||||||
|
2 | 219418497 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1.000 | 0.040 | 2 | 178734327 | splice donor variant | C/A;T | snv | 4.3E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 12 | 109784378 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 12 | 109798823 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 12 | 109798820 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 12 | 109800666 | missense variant | G/A;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 12 | 109800639 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 12 | 109784385 | missense variant | C/T | snv |
|
0.700 | 0 |