| 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 | 0.120 | 12 | 102840507 | missense variant | G/A | snv | 6.0E-04 | 5.6E-04 |
|
0.700 | 1.000 | 17 | 1993 | 2015 | |||||||
|
1.000 | 0.120 | 12 | 102852929 | missense variant | C/A;T | snv | 7.6E-05 |
|
0.700 | 1.000 | 17 | 1993 | 2015 | ||||||||
|
20 | 10412669 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 5 | 1999 | 2016 | |||||||||||
|
1.000 | 3 | 114350821 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 7 | 2009 | 2017 | ||||||||||
|
1.000 | 12 | 115987290 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 11 | 118472681 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | X | 119574712 | start lost | A/G | snv |
|
0.700 | 1.000 | 8 | 2006 | 2017 | ||||||||||
|
1.000 | X | 120547191 | stop gained | G/A | snv |
|
0.700 | 1.000 | 10 | 2000 | 2017 | ||||||||||
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
0.700 | 1.000 | 26 | 1985 | 2017 | |||||||||
|
1.000 | 5 | 126549924 | splice region variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 9 | 1996 | 2013 | ||||||||
|
9 | 127669950 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 27 | 1998 | 2016 | |||||||||||
|
0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
5 | 13792128 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 6 | 2002 | 2013 | |||||||||
|
1.000 | 0.080 | 7 | 141611288 | splice donor variant | G/A;T | snv | 4.1E-06 |
|
0.700 | 1.000 | 6 | 2012 | 2017 | ||||||||
|
0.925 | 0.080 | 7 | 141615468 | splice region variant | C/A;G;T | snv | 1.2E-05; 2.8E-05; 2.8E-05 |
|
0.700 | 1.000 | 6 | 2012 | 2017 | ||||||||
|
1.000 | 5 | 14359442 | stop gained | C/T | snv |
|
0.700 | 1.000 | 9 | 1996 | 2017 | ||||||||||
|
1.000 | 7 | 148829806 | missense variant | C/G | snv |
|
0.700 | 1.000 | 5 | 1998 | 2013 | ||||||||||
|
0.925 | 0.160 | 7 | 150948861 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 14 | 1999 | 2016 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1 | 153812108 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||||
|
0.925 | 0.080 | X | 153905887 | inframe deletion | TAC/- | delins |
|
0.700 | 1.000 | 9 | 1999 | 2015 | |||||||||
|
0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins |
|
0.700 | 1.000 | 19 | 1993 | 2016 | |||||||||
|
1.000 | 0.080 | 1 | 160137001 | missense variant | G/A | snv |
|
0.700 | 1.000 | 12 | 1992 | 2017 | |||||||||
|
0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv |
|
0.700 | 1.000 | 11 | 1997 | 2016 | |||||||||
|
1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 4 | 2010 | 2014 |