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 | 3 | 37000954 | splice region variant | AAGAAGATCTGGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37026007 | splice donor variant | GTATGG/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 3 | 37001028 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 3 | 36993651 | missense variant | TG/AC | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37004418 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 3 | 37012011 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 3 | 37020309 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37040257 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37008874 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37025875 | frameshift variant | -/TG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37025985 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37028782 | splice acceptor variant | AG/CC | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37047651 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 36993664 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37000952 | splice region variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 3 | 37001058 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 37008908 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37011867 | splice region variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 37042332 | splice donor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37025925 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.160 | 3 | 37047639 | missense variant | AA/GC | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 36993506 | 5 prime UTR variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.080 | 3 | 37012071 | missense variant | C/A;T | snv | 3.7E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 3 | 37048583 | missense variant | A/G;T | snv | 1.1E-03; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 37028872 | inframe deletion | CAT/- | delins | 1.4E-05 | 0.700 | 0 |