Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | X | 47181316 | frameshift variant | AG/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 2 | 55249467 | frameshift variant | CTTTTTTCACT/- | delins | 0.700 | 0 | |||||||||
|
1 | 2 | 201085517 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 4 | 26406245 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 17 | 40637502 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | X | 40072918 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | X | 54465532 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 2 | 205763747 | frameshift variant | T/- | del | 7.0E-06 | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.080 | 14 | 96876033 | stop gained | C/G;T | snv | 6.4E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1 | 92833459 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 100809207 | stop gained | C/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
19 | 0.790 | 0.200 | 11 | 66211206 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 6 | 157200765 | frameshift variant | AT/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 16 | 89275092 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 8 | 60845364 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
5 | 0.851 | 0.120 | 1 | 64846735 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 17 | 76733042 | frameshift variant | -/A | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 1.000 | X | 64919152 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
2 | 1.000 | 0.080 | 17 | 40866802 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 1997 | 2008 | |||||
|
1 | 10 | 71646592 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2001 | 2001 | |||||||
|
3 | 1.000 | X | 64921894 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
1 | 10 | 71712685 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2001 | 2001 |