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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 0.700 | 1.000 | 3 | 2011 | 2012 | ||||
|
5 | 1.000 | 0.120 | 1 | 197102332 | frameshift variant | AAGT/- | delins | 0.700 | 1.000 | 2 | 2002 | 2009 | |||||
|
5 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1 | 197101677 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 197094079 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||||
|
19 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.160 | 1 | 152314342 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.320 | 1 | 160042339 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 1 | 197142522 | frameshift variant | CT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 1 | 197101468 | frameshift variant | CT/- | delins | 2.3E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 1 | 39967913 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | ||||||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.120 | 1 | 42929018 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
10 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.320 | 2 | 15945883 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.320 | 2 | 15942129 | frameshift variant | -/CGCT | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.360 | 2 | 15945602 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 2 | 199272423 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 |