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 | 47800909 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2015 | ||||||
|
1 | 2 | 47800283 | inframe deletion | CCT/- | delins | 0.700 | 1.000 | 5 | 2007 | 2014 | |||||||
|
2 | 2 | 47783453 | stop gained | G/T | snv | 0.700 | 1.000 | 4 | 2006 | 2015 | |||||||
|
1 | 2 | 47799737 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 2007 | 2015 | |||||||
|
1 | 2 | 47804953 | inframe deletion | CTG/-;CTGCTG | delins | 0.700 | 1.000 | 4 | 2003 | 2012 | |||||||
|
2 | 2 | 47806297 | frameshift variant | CTACCATTCATTAGTAGAAGATTATTCTCA/- | delins | 7.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2012 | ||||||
|
1 | 2 | 47800915 | stop gained | C/G;T | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||||
|
2 | 2 | 47804948 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2012 | 2016 | |||||||
|
2 | 2 | 47795904 | frameshift variant | AAAG/- | del | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
1 | 2 | 47799013 | stop gained | C/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2016 | |||||||
|
1 | 2 | 47806604 | frameshift variant | AAAGCAAGAGAATTTGAGAAGATGAA/- | delins | 0.700 | 1.000 | 2 | 2007 | 2013 | |||||||
|
1 | 2 | 47795914 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 2 | 47799410 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 2 | 47799783 | frameshift variant | TC/- | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 47804985 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 47806281 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 2 | 47803658 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 2 | 47796013 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 47804923 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 2 | 47800888 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 2 | 47800788 | frameshift variant | TG/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 2 | 47804998 | frameshift variant | ACTTG/- | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 2 | 47799117 | frameshift variant | AA/- | del | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 2 | 47799949 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 2 | 47800785 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 |