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 | 3 | 37050630 | stop gained | -/A | delins | 0.700 | 1.000 | 9 | 1996 | 2016 | |||||||
|
1 | 3 | 37050540 | stop gained | -/TATAAAGCCTTGCGCTCACACATTCTGCCTC | delins | 0.700 | 1.000 | 6 | 1999 | 2014 | |||||||
|
1 | 3 | 37050639 | frameshift variant | T/- | delins | 0.700 | 1.000 | 4 | 2003 | 2012 | |||||||
|
1 | 3 | 37050594 | stop gained | G/T | snv | 0.700 | 1.000 | 4 | 1999 | 2010 | |||||||
|
2 | 3 | 37025702 | frameshift variant | -/T | delins | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||||
|
1 | 3 | 37050642 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 3 | 2003 | 2010 | |||||||
|
1 | 3 | 37006990 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2005 | 2015 | |||||||
|
1 | 3 | 37012101 | splice donor variant | T/C | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
1 | 3 | 37047572 | frameshift variant | -/CCAGATAGTCCAGA | ins | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
1 | 3 | 36993574 | synonymous variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||||
|
2 | 3 | 37048957 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||||
|
1 | 3 | 37048911 | stop gained | G/A;C | snv | 0.700 | 1.000 | 2 | 2002 | 2003 | |||||||
|
2 | 3 | 37020419 | frameshift variant | AAGC/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1 | 3 | 37025877 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 3 | 37001039 | start lost | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 37014429 | splice region variant | T/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1 | 3 | 37020404 | stop gained | C/G;T | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 37047544 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
2 | 3 | 37001019 | stop gained | T/A;G | snv | 0.700 | 1.000 | 1 | 1976 | 1976 | |||||||
|
1 | 3 | 37000953 | splice region variant | AAGAAGA/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 37047639 | frameshift variant | AA/A;AAA;G | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37001014 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37007000 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 3 | 37025668 | frameshift variant | GAGATGG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37025639 | frameshift variant | T/- | delins | 0.700 | 0 |