| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | X | 154030798 | missense variant | G/A;C | snv | 3.8E-05 |
|
0.710 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
0.925 | 0.120 | X | 154031356 | missense variant | T/C | snv |
|
0.710 | 1.000 | 20 | 1999 | 2017 | |||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.710 | 1.000 | 6 | 2002 | 2016 | ||||||||
|
0.925 | 0.080 | X | 154030799 | frameshift variant | C/-;CC | delins |
|
0.710 | 1.000 | 1 | 2012 | 2013 | |||||||||
|
0.807 | 0.080 | X | 154031374 | missense variant | G/C | snv | 5.5E-06 | 1.9E-05 |
|
0.710 | 1.000 | 0 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | X | 154031415 | stop gained | A/G;T | snv |
|
0.710 | 1.000 | 0 | 1999 | 1999 | |||||||||
|
1.000 | 0.080 | X | 154030643 | splice acceptor variant | TCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins |
|
0.710 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | X | 154030939 | stop gained | G/A | snv |
|
0.710 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | X | 154097618 | synonymous variant | G/A | snv |
|
0.710 | 1.000 | 0 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | X | 154031425 | missense variant | T/C | snv |
|
0.700 | 1.000 | 21 | 1999 | 2017 | |||||||||
|
1.000 | 0.080 | X | 154031365 | missense variant | A/T | snv |
|
0.700 | 1.000 | 21 | 1999 | 2017 | |||||||||
|
1.000 | 0.080 | X | 154031361 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 21 | 1999 | 2017 | |||||||||
|
1.000 | 0.080 | X | 154031346 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 21 | 1999 | 2017 | |||||||||
|
1.000 | 0.080 | X | 154031199 | missense variant | T/A | snv |
|
0.700 | 1.000 | 21 | 1999 | 2017 | |||||||||
|
1.000 | 0.080 | X | 154030924 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 21 | 1999 | 2017 | |||||||||
|
1.000 | 0.080 | X | 154030914 | missense variant | T/C | snv |
|
0.700 | 1.000 | 21 | 1999 | 2017 | |||||||||
|
1.000 | 0.080 | X | 154030666 | missense variant | G/A;C | snv | 5.8E-06; 7.5E-05; 3.5E-05 |
|
0.700 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154030863 | missense variant | G/A | snv |
|
0.700 | 1.000 | 20 | 1999 | 2017 | |||||||||
|
0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 11 | 1999 | 2012 | |||||||||
|
0.925 | 0.080 | X | 154031360 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 10 | 2000 | 2012 | |||||||||
|
0.882 | 0.080 | X | 154030628 | splice acceptor variant | TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- | delins |
|
0.700 | 1.000 | 6 | 2000 | 2012 | |||||||||
|
0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins |
|
0.700 | 1.000 | 5 | 2004 | 2013 | |||||||||
|
0.882 | 0.080 | X | 154031405 | stop gained | G/C;T | snv |
|
0.700 | 1.000 | 5 | 2001 | 2007 | |||||||||
|
1.000 | 0.080 | X | 154031453 | splice region variant | G/A;C;T | snv | 1.7E-05; 5.5E-06 |
|
0.700 | 1.000 | 4 | 2005 | 2015 | ||||||||
|
1.000 | 0.080 | X | 154031118 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 4 | 1992 | 2013 |