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 | 4 | 54727501 | inframe deletion | GAT/- | delins | 0.700 | 1.000 | 5 | 1998 | 2015 | |||||||
|
1 | 4 | 54277981 | missense variant | C/A;G | snv | 0.710 | 1.000 | 3 | 2003 | 2006 | |||||||
|
2 | 4 | 54733175 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||||
|
1 | 4 | 54285925 | missense variant | GA/AT | mnv | 0.700 | 1.000 | 3 | 2006 | 2014 | |||||||
|
1 | 4 | 54727909 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 1995 | 2007 | |||||||
|
2 | 4 | 54285925 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||||
|
2 | 4 | 54290319 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2007 | 2013 | |||||
|
3 | 4 | 54277974 | missense variant | T/C | snv | 3.5E-05 | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||||
|
1 | 4 | 54727447 | missense variant | TT/AA | mnv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 4 | 54727438 | missense variant | GG/TT | mnv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 17 | 64352432 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 54285925 | inframe deletion | GACATCATG/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 4 | 54285928 | inframe deletion | ATCATGCATGAT/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 4 | 54285921 | inframe deletion | GAGACA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 4 | 54285925 | inframe deletion | CATCATGCATGA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 16 | 768475 | missense variant | C/T | snv | 7.8E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 2 | 38069747 | 3 prime UTR variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 102273431 | missense variant | C/G | snv | 2.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | X | 45746891 | intron variant | T/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 104944794 | missense variant | G/C | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 4 | 54727456 | missense variant | T/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 4 | 54733162 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
1 | 4 | 54727414 | splice region variant | AAACCCATGTATGAAGTACAGTGGAAG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 4 | 54695552 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||||
|
1 | 4 | 54699760 | frameshift variant | TCAG/- | delins | 0.700 | 0 |