| 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 | 0.827 | 0.080 | 1 | 197328844 | inframe insertion | AATTGATGG/-;AATTGATGGAATTGATGG | delins | 7.7E-04 | 0.700 | 1.000 | 2 | 2006 | 2018 | ||||
|
1 | 1.000 | 0.040 | X | 46837109 | inframe deletion | TCT/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.040 | 2 | 181566055 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 94060760 | splice acceptor variant | C/T | snv | 4.2E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 1999 | 1999 | |||
|
6 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 0.700 | 1.000 | 2 | 2001 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 197421257 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 16 | 68679936 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
25 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 1 | 94111453 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 21 | 45510091 | frameshift variant | CT/- | del | 3.0E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.120 | 8 | 86578688 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
15 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2011 | 2016 | |||||
|
17 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.720 | 1.000 | 4 | 1997 | 2019 | |||
|
11 | 0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv | 0.720 | 1.000 | 3 | 2010 | 2019 | |||||
|
3 | 0.882 | 0.080 | 6 | 42704570 | missense variant | C/T | snv | 4.8E-05 | 9.8E-05 | 0.700 | 1.000 | 2 | 1997 | 2019 | |||
|
10 | 0.763 | 0.160 | 6 | 42721821 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 1995 | 2009 | |||||
|
5 | 0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.040 | 4 | 15984309 | missense variant | T/A;C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
8 | 0.790 | 0.200 | 6 | 42173762 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 21 | 38403680 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 197477799 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |