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 | 17028738 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 17023976 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 17024005 | frameshift variant | -/GTTCC | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17033108 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 1 | 17023972 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 17024009 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17033068 | missense variant | C/A | snv | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 17053948 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17024011 | frameshift variant | TCCACCAGTA/CC | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17022731 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.080 | 1 | 17044849 | frameshift variant | G/-;GGG | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 0.700 | 0 | ||||||||
|
1 | 1 | 17033143 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.080 | 1 | 17028736 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.080 | 1 | 17028649 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 17027763 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 17027808 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17027844 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 17027847 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 1 | 17023967 | splice donor variant | CCTCACC/- | del | 0.700 | 0 | ||||||||||
|
1 | 1 | 17022719 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1995 | 2018 | |||||
|
4 | 0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv | 0.700 | 1.000 | 6 | 1995 | 2013 |