| 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 | 0.925 | 0.120 | 1 | 40819893 | missense variant | G/A;T | snv | 0.800 | 1.000 | 6 | 1999 | 2014 | |||||
|
2 | 1.000 | 0.120 | 1 | 40820180 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 6 | 1999 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 40819459 | missense variant | T/A | snv | 0.800 | 1.000 | 6 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819882 | missense variant | T/C | snv | 0.800 | 1.000 | 6 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819899 | missense variant | G/C | snv | 0.800 | 1.000 | 5 | 1999 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819465 | missense variant | G/C | snv | 7.0E-06 | 0.800 | 1.000 | 5 | 1999 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 40819439 | inframe deletion | CCT/- | delins | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 1 | 40784317 | frameshift variant | -/GC | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 1 | 40838474 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 1 | 40818661 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819446 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 1 | 40819461 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819911 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819912 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819931 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 1 | 40822313 | splice region variant | TGCCTGGC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | 1 | 40818518 | missense variant | C/G | snv | 3.3E-04 | 1.1E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 1 | 40819416 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819423 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 40819926 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.240 | 1 | 40784233 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40784352 | inframe deletion | CTACAACGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40819434 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40784304 | frameshift variant | AGCGCTCCTCGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40784303 | frameshift variant | C/- | delins | 0.700 | 0 |