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 | 0.160 | 3 | 181713201 | frameshift variant | GCCGAGGTGCCGGAACCCGC/ACCTCGG | delins | 0.700 | 1.000 | 3 | 2009 | 2014 | |||||
|
2 | 0.925 | 0.160 | 3 | 181712581 | missense variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2003 | 2014 | |||||
|
1 | 1.000 | 0.160 | 3 | 181712900 | stop gained | C/G;T | snv | 4.9E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2009 | 2011 | |||
|
1 | 1.000 | 0.160 | 3 | 181712889 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712637 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712608 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 3 | 181712650 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712823 | stop gained | C/G;T | snv | 4.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 181712523 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712498 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712514 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712602 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712417 | frameshift variant | -/GGCAACTCCACCGCGGCGGCGGC | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 3 | 181712745 | frameshift variant | GG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712605 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712413 | frameshift variant | -/G;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712503 | stop gained | TC/AA | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181713194 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 181712909 | frameshift variant | C/- | delins | 0.700 | 0 |