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 | 0.040 | 22 | 31804211 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31806179 | frameshift variant | CAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31814999 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31821566 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31838842 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31843705 | frameshift variant | CTCAGAGTTC/GGACA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31873316 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31797616 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31837126 | stop gained | T/A;C | snv | 2.4E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 22 | 31893655 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31857483 | missense variant | A/G | snv | 3.3E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 22 | 31765049 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 22 | 31778139 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31810589 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 22 | 31819101 | frameshift variant | CTGCATG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31897538 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 31873333 | splice donor variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 22 | 31766584 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 22 | 31783911 | inframe deletion | GTT/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 22 | 31802739 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 22 | 31906252 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 22 | 31804202 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 22 | 31804194 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 22 | 31876262 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 22 | 31901763 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |