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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | G/TTAT | delins | 0.700 | 1.000 | 3 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.080 | 17 | 39724749 | inframe insertion | -/GGCTCCCCA | delins | 0.700 | 1.000 | 3 | 2004 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/CTCCGTGATGGC | delins | 0.700 | 1.000 | 2 | 2004 | 2012 | |||||
|
2 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins | 0.700 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 39724731 | inframe insertion | -/TACGTGATGGCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
18 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
2 | 1.000 | 0.080 | 17 | 39725363 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |