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 | 2 | 47801092 | frameshift variant | TTCT/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47806286 | frameshift variant | TTCAACTCACTACCATTCATTAGTAGAAGATTATT/- | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47800628 | stop gained | TTAAGTCTA/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47791106 | frameshift variant | TT/-;TTT | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47799882 | frameshift variant | TT/-;TTT | delins | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.160 | 2 | 47803553 | frameshift variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 4 | 2002 | 2016 | |||||
|
3 | 1.000 | 0.160 | 2 | 47801101 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 2 | 2007 | 2015 | |||||
|
4 | 0.925 | 0.160 | 2 | 47799685 | frameshift variant | TT/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 2 | 47799552 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||||
|
2 | 2 | 47799090 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47806526 | frameshift variant | TGTCCTAAAAGCT/- | delins | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||||
|
2 | 1.000 | 0.160 | 2 | 47799884 | frameshift variant | TG/- | del | 0.700 | 1.000 | 2 | 2003 | 2004 | |||||
|
1 | 2 | 47800755 | frameshift variant | TG/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47806503 | frameshift variant | TCCTCTAT/- | delins | 0.700 | 0 | ||||||||||
|
6 | 0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2013 | ||||
|
2 | 2 | 47806353 | splice donor variant | TATGGTATGTGCA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47804983 | frameshift variant | TAGAGTGTTTA/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 47783495 | splice donor variant | TA/AG | mnv | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||||
|
3 | 1.000 | 0.160 | 2 | 47803443 | stop gained | TA/-;TATA | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47804983 | frameshift variant | TA/- | delins | 0.700 | 1.000 | 4 | 2004 | 2015 | |||||
|
2 | 2 | 47799798 | frameshift variant | TA/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 2 | 47806271 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47806325 | stop gained | T/G | snv | 0.700 | 1.000 | 3 | 2006 | 2015 | |||||
|
3 | 1.000 | 0.160 | 2 | 47799278 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.160 | 2 | 47799092 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2013 | 2017 |