| 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 | 10146591 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||||
|
1 | 3 | 10146531 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 3 | 10149865 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 10142133 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 3 | 10146560 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
5 | 0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 10149785 | splice acceptor variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 3 | 10142127 | stop gained | G/A;T | snv | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 3 | 10149935 | frameshift variant | GC/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 3 | 10142039 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 3 | 10142026 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 10142066 | frameshift variant | GG/- | del | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 3 | 10142179 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 3 | 10142124 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 1994 | 1998 | |||||
|
3 | 0.925 | 0.160 | 3 | 10142111 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 1999 | 2005 | |||||
|
3 | 0.925 | 0.160 | 3 | 10146625 | missense variant | T/C;G | snv | 0.700 | 1.000 | 3 | 1999 | 2007 | |||||
|
3 | 0.925 | 0.160 | 3 | 10149856 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 10 | 1994 | 2008 | |||||
|
3 | 0.925 | 0.240 | 3 | 10149796 | missense variant | T/A;C | snv | 0.700 | 1.000 | 3 | 1998 | 2009 | |||||
|
3 | 0.925 | 0.160 | 3 | 10146580 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1994 | 2010 | ||||
|
2 | 1.000 | 0.120 | 3 | 10149819 | missense variant | G/T | snv | 0.700 | 1.000 | 8 | 1996 | 2010 | |||||
|
1 | 3 | 10146511 | splice region variant | T/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
3 | 0.925 | 0.160 | 3 | 10146526 | missense variant | T/C;G | snv | 0.700 | 1.000 | 9 | 1994 | 2012 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142167 | missense variant | G/A;C | snv | 0.700 | 1.000 | 5 | 1998 | 2012 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142089 | missense variant | C/A;T | snv | 4.3E-06; 4.3E-06 | 0.700 | 1.000 | 3 | 2006 | 2012 | ||||
|
1 | 3 | 10142109 | protein altering variant | -/GGC | delins | 0.700 | 1.000 | 2 | 2002 | 2012 |