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 | 1.000 | 0.080 | 11 | 47347434 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 11 | 47333209 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 47333627 | frameshift variant | TGAAT/- | del | 0.700 | 0 | ||||||||||
|
1 | 11 | 47333996 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 47339656 | frameshift variant | -/ATAG | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 47341145 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
1 | 11 | 47341183 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 47343585 | stop gained | -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 11 | 47350600 | frameshift variant | ATGGGCTCTG/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 11 | 47346298 | stop gained | G/A;C | snv | 7.7E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 11 | 47347480 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 47343547 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 47342745 | splice acceptor variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.080 | 11 | 47342719 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 11 | 47341140 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 47337791 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 47337455 | frameshift variant | ACGCG/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 11 | 47332594 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 11 | 47332569 | frameshift variant | G/-;GG | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 11 | 47350082 | frameshift variant | -/T | delins | 3.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.080 | 11 | 47349876 | frameshift variant | -/A | delins | 8.2E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 11 | 47347852 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 11 | 47332110 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 11 | 47333236 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 11 | 47342929 | frameshift variant | GG/-;GGG | delins | 0.700 | 0 |