Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 12 | 115963419 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 12 | 115963422 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 115966209 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.200 | 12 | 115969040 | frameshift variant | GCCAATAT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 115970696 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 115970711 | frameshift variant | GA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 115975514 | splice donor variant | C/T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 12 | 115975601 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 12 | 115982386 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 12 | 115982406 | frameshift variant | AT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 115982605 | splice acceptor variant | T/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 12 | 115984259 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 115987280 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 115991189 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 115997200 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 12 | 115997221 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 12 | 116003068 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 12 | 116005938 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
14 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 116007590 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 116008704 | frameshift variant | CT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 116009071 | frameshift variant | -/GTTG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 116022473 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 116022564 | stop gained | CA/AT | mnv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 116022602 | splice acceptor variant | C/A | snv | 0.700 | 0 |