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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 4 | 54733162 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.080 | 1 | 17023994 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027790 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024013 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044820 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 4 | 54727414 | splice region variant | AAACCCATGTATGAAGTACAGTGGAAG/- | delins | 0.700 | 0 | ||||||||||
|
4 | 0.882 | 0.080 | 4 | 54727443 | inframe deletion | TTGTTG/-;TTG | delins | 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 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024007 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044756 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 161340629 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 4 | 54695552 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||||
|
1 | 4 | 54699760 | frameshift variant | TCAG/- | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.120 | 17 | 31334856 | frameshift variant | T/- | delins | 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 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 161356840 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 4 | 54698334 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 4 | 54727420 | inframe deletion | CCATGTATGAAGTACAGTGGA/- | del | 0.700 | 0 | ||||||||||
|
1 | 4 | 54727421 | protein altering variant | CATGTATG/AA | delins | 0.700 | 0 |