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 | 16 | 2116856 | missense variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
1 | 1.000 | 0.120 | 16 | 2108680 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2001 | 2012 | |||||
|
2 | 0.925 | 0.120 | 16 | 2116010 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||
|
1 | 1.000 | 0.120 | 16 | 2089927 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 2104564 | stop gained | G/A;C | snv | 5.9E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 2090125 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 16 | 2090336 | inframe deletion | TCC/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 2108335 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 16 | 2108968 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 16 | 2090802 | stop gained | G/A;C | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 2091857 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090196 | splice acceptor variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2091077 | frameshift variant | CAGGCTCCGAGCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2102506 | stop gained | GCC/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2103512 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2106840 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2107947 | frameshift variant | -/CAGCCGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2108860 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2110706 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 16 | 2114808 | missense variant | G/A;C | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2106877 | stop gained | G/A;C | snv | 3.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 16 | 2093917 | inframe insertion | AGCCAC/-;AGCCACAGCCAC | delins | 0.700 | 0 |