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 | 1 | 226984892 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226985332 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226965719 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 226982111 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 226984910 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226985326 | missense variant | G/A;T | snv | 1.4E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226982725 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 226984233 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 226982954 | missense variant | C/G;T | snv | 1.7E-05; 6.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226986539 | inframe deletion | ACC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 226984901 | missense variant | C/T | snv | 4.8E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 226965322 | frameshift variant | AATCCCCTGTTGGGGGCCTCAC/TTG | delins | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226983607 | stop gained | T/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 226982735 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 226986637 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226983827 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226986632 | frameshift variant | GGG/-;GG;GGGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 226982996 | stop gained | C/T | snv | 4.5E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 226982126 | missense variant | T/C | snv | 4.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226984169 | frameshift variant | CA/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226984656 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 226983549 | splice region variant | -/GTA | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 226982960 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 226986604 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2008 | 2008 |