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 | 1.000 | 0.120 | 14 | 28767923 | missense variant | TC/CT | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768527 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 28767784 | frameshift variant | GG/C;T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767830 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767856 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767968 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767979 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768066 | frameshift variant | ACGTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768248 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767973 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768091 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 14 | 28768100 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 14 | 28767832 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768223 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2008 | 2016 | |||||
|
2 | 0.925 | 0.160 | 14 | 28767733 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 6 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.120 | 14 | 28767922 | missense variant | T/C | snv | 0.800 | 1.000 | 3 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.120 | 14 | 28768302 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 14 | 28768009 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2011 | 2014 | |||||
|
1 | 1.000 | 0.120 | 14 | 28767529 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 2 | 2012 | 2016 | |||||
|
1 | 1.000 | 0.120 | 14 | 28767449 | frameshift variant | -/GCCGCCCGCC | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.200 | 14 | 28767822 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |