| 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 | 25751134 | stop gained | G/A | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 25737407 | missense variant | G/A | snv | 8.0E-06 | 0.710 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 25719534 | frameshift variant | G/- | delins | 8.0E-06 | 3.5E-05 | 0.700 | 1.000 | 4 | 2012 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 25733931 | stop gained | T/A;C | snv | 1.8E-04; 4.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||
|
2 | 1.000 | 0.080 | 3 | 25732339 | stop gained | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 25733963 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 25739728 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 25719515 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 25739572 | splice region variant | C/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 25737406 | stop gained | C/A;T | snv | 4.0E-06; 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 25720179 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 1.000 | 0.080 | 3 | 25729208 | frameshift variant | ATTG/- | delins | 1.7E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 25729140 | stop gained | C/G;T | snv | 4.8E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 25764211 | stop gained | G/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 25739585 | frameshift variant | TCGATTGCTGAACTGGC/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 25733983 | splice acceptor variant | C/G | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 25732373 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 25733925 | inframe deletion | TCT/- | delins | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 25739587 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 |