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 | 2 | 47410202 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47410236 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47410355 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47414351 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47416312 | frameshift variant | ACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAACCC/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47429892 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47445610 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.160 | 2 | 47463044 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 47463122 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.160 | 2 | 47466665 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 47476445 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47476476 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47480759 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47480768 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47480800 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47480824 | stop gained | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403202 | frameshift variant | AG/C | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47410163 | frameshift variant | -/GT | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47410370 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47412420 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47412447 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47416331 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47429864 | frameshift variant | TTAC/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47463039 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47463135 | frameshift variant | -/TT | ins | 0.700 | 0 |