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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2004 | 2017 | |||||
|
3 | 0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 2 | 214781251 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
2 | 1.000 | 0.080 | 2 | 214797099 | frameshift variant | TC/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 2 | 214767643 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 2 | 214780662 | stop gained | -/T | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 2 | 214728742 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 214728861 | frameshift variant | TG/- | del | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 214728946 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 214745720 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214781458 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 214728867 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214745723 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 214745788 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214745854 | splice acceptor variant | CT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 214752478 | frameshift variant | -/TCTCT | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 214767480 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214767537 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 214769230 | splice region variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 214769256 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 214769282 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214780592 | stop gained | C/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 2 | 214780643 | frameshift variant | TAGAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 214780647 | frameshift variant | GACA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 214780718 | stop gained | C/A | snv | 0.700 | 0 |