| 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 | 5 | 36961580 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36961583 | splice region variant | -/GT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36962121 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 5 | 36962199 | missense variant | G/A | snv | 3.8E-03 | 3.6E-03 | 0.700 | 1.000 | 9 | 2004 | 2017 | |||
|
1 | 1.000 | 0.080 | 5 | 36962249 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 5 | 36962262 | stop gained | C/G;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 5 | 36962275 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36971002 | missense variant | A/G | snv | 0.800 | 1.000 | 9 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.080 | 5 | 36971037 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 5 | 36971944 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36972041 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975775 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975799 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975799 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975821 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975829 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975910 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975937 | frameshift variant | TATG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975964 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36975992 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36976049 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36976052 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36976090 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36976204 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 36976279 | stop gained | C/T | snv | 0.700 | 0 |