| 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 | 0.160 | 5 | 132393688 | missense variant | G/A | snv | 3.2E-03 | 3.4E-03 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.160 | 5 | 132384290 | missense variant | C/T | snv | 7.2E-04 | 1.8E-04 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.160 | 5 | 132370023 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132394183 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132378475 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370127 | frameshift variant | -/GACGCCG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132387024 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370366 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132378377 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132390889 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 5 | 132390825 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370224 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370363 | stop gained | G/A;T | snv | 1.7E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 5 | 132390701 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 5 | 132369974 | start lost | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132369985 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370157 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/CCGGCTCGCCACCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370333 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132385327 | frameshift variant | -/TATGGCCATCAGGTTGGAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132385429 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132387081 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132388919 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132389022 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132390809 | stop gained | G/A | snv | 0.700 | 0 |