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 | 1 | 17053997 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018938 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 17022676 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024007 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 17027736 | splice donor variant | GGACTAATGACCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 17027748 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 17027787 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044756 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 17044771 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018943 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17028623 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17022654 | frameshift variant | GAGA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17028649 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 1 | 17024028 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044835 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 17028727 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 16 | 2003 | 2016 | ||||
|
3 | 0.925 | 0.080 | 1 | 17022687 | frameshift variant | -/CGCCTCTGTGAAG | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 1 | 17022689 | frameshift variant | CT/- | delins | 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2014 | ||||
|
9 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 24 | 2003 | 2017 |