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 | 3 | 179218315 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 2004 | 2012 | |||||||
|
2 | 6 | 152011697 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||||
|
1 | 6 | 152098785 | missense variant | T/G | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
1 | 15 | 28260816 | inframe deletion | GTCCAGTCCTGGCAA/- | del | 0.700 | 1.000 | 2 | 2006 | 2013 | |||||||
|
2 | 17 | 43063885 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||||
|
2 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 6 | 152094402 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 6 | 152098782 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 15 | 28260829 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 17 | 39723966 | inframe deletion | TGAGGGAAAACACAT/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 3 | 179218286 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 3 | 36993560 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 3 | 45595642 | missense variant | A/C | snv | 8.6E-04 | 7.7E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 13 | 32340234 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1 | 17 | 43076486 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||||
|
2 | 1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 22 | 28695841 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1 | 1 | 162790761 | 5 prime UTR variant | C/T | snv | 0.70 | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 7 | 55165359 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 13 | 32337181 | frameshift variant | TTAA/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
2 | 1.000 | 13 | 32338504 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1.000 | 13 | 32340440 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
2 | 1.000 | 17 | 43104958 | splice acceptor variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 43092974 | frameshift variant | -/GAAAAGTGAA | ins | 0.700 | 1.000 | 1 | 2016 | 2016 |