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 | 14 | 92006354 | frameshift variant | T/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 14 | 91999314 | frameshift variant | CTCT/- | delins | 8.0E-06 | 0.700 | 0 | |||||||||
|
1 | 14 | 92004982 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 5 | 149978101 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 1996 | 2001 | |||||
|
3 | 0.925 | 0.080 | 12 | 47985772 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 14 | 92005847 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 5 | 149980603 | inframe insertion | TGTTGT/-;TGT;TGTTGTTGT | delins | 3.5E-05 | 0.700 | 1.000 | 4 | 1996 | 2004 | ||||
|
5 | 0.851 | 0.120 | 5 | 149978184 | stop gained | C/T | snv | 1.3E-04 | 1.2E-04 | 0.700 | 1.000 | 3 | 1996 | 2011 | |||
|
5 | 0.851 | 0.120 | 5 | 149981550 | missense variant | T/A | snv | 1.1E-04 | 1.3E-04 | 0.700 | 1.000 | 3 | 2003 | 2012 | |||
|
5 | 0.851 | 0.120 | 5 | 149981316 | frameshift variant | A/- | delins | 0.700 | 1.000 | 2 | 1996 | 1996 | |||||
|
5 | 0.851 | 0.120 | 5 | 149960981 | splice donor variant | T/C | snv | 5.4E-04 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 1.000 | 0.120 | 5 | 149977707 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.925 | 0.120 | 1 | 150799228 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
5 | 0.851 | 0.120 | 5 | 149978135 | frameshift variant | TG/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.120 | 14 | 92021558 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 14 | 91975213 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 14 | 92011072 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 5 | 149981300 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 14 | 92003442 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.776 | 0.200 | 5 | 149980428 | missense variant | C/T | snv | 9.8E-04 | 1.0E-03 | 0.700 | 1.000 | 3 | 2004 | 2011 | |||
|
4 | 0.882 | 0.200 | 6 | 83174481 | missense variant | A/G | snv | 1.7E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.827 | 0.320 | 4 | 150583180 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2007 | ||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2015 | 2016 |