| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
0.900 | 1.000 | 42 | 1999 | 2017 | |||||||||
|
0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv |
|
0.740 | 1.000 | 40 | 1999 | 2014 | |||||||||
|
0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv |
|
0.870 | 1.000 | 22 | 1999 | 2017 | |||||||||
|
0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv |
|
0.880 | 1.000 | 16 | 1999 | 2017 | |||||||||
|
0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 11 | 1999 | 2012 | |||||||||
|
0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv |
|
0.840 | 1.000 | 10 | 1999 | 2017 | |||||||||
|
0.925 | 0.080 | X | 154031360 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 10 | 2000 | 2012 | |||||||||
|
0.925 | 0.080 | X | 154031427 | missense variant | G/A;C | snv |
|
0.810 | 1.000 | 9 | 1988 | 2017 | |||||||||
|
0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv |
|
0.720 | 1.000 | 8 | 1999 | 2010 | |||||||||
|
0.882 | 0.120 | X | 154031373 | missense variant | G/C;T | snv |
|
0.810 | 1.000 | 7 | 1999 | 2017 | |||||||||
|
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 | |||||||||
|
0.925 | 0.080 | X | 154030923 | missense variant | G/A;C;T | snv |
|
0.800 | 1.000 | 5 | 1999 | 2017 | |||||||||
|
0.925 | 0.080 | X | 154030911 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 5 | 1999 | 2017 | |||||||||
|
1.000 | 0.080 | X | 154031118 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 4 | 1992 | 2013 | |||||||||
|
0.925 | 0.080 | X | 154031075 | frameshift variant | G/-;GG;GGG | delins |
|
0.700 | 1.000 | 2 | 2002 | 2007 | |||||||||
|
0.882 | 0.080 | X | 154030903 | missense variant | G/A | snv |
|
0.720 | 1.000 | 2 | 2007 | 2016 | |||||||||
|
1.000 | 0.080 | X | 154030803 | frameshift variant | -/CT | ins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | X | 154031150 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | X | 154030699 | frameshift variant | ACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGG/- | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | X | 154030690 | inframe deletion | GGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTC/- | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | X | 154030623 | frameshift variant | GGTGGGGTCCTCGGAGCTCTCGGGCT/- | delins |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | X | 154031085 | frameshift variant | ATCACCAT/CAC | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | X | 154030799 | frameshift variant | C/-;CC | delins |
|
0.710 | 1.000 | 1 | 2012 | 2013 |