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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins | 0.700 | 1.000 | 7 | 2003 | 2017 | ||||||
|
1 | 1.000 | 17 | 58734116 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 4 | 2010 | 2015 | ||||||
|
5 | 0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||
|
2 | 1.000 | 17 | 58724037 | splice acceptor variant | CAGGG/- | del | 0.700 | 1.000 | 4 | 2010 | 2016 | ||||||
|
2 | 1.000 | 17 | 58703330 | splice donor variant | G/A | snv | 0.700 | 1.000 | 4 | 2010 | 2016 | ||||||
|
2 | 1.000 | 17 | 58709991 | splice donor variant | G/- | del | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
1 | 1.000 | 17 | 58696861 | splice donor variant | T/A | snv | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
3 | 0.925 | 17 | 58696692 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
1 | 1.000 | 17 | 58724101 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
4 | 0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 | 0.700 | 1.000 | 3 | 2011 | 2016 | ||||
|
3 | 0.925 | 17 | 58709927 | frameshift variant | T/- | del | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||||
|
1 | 1.000 | 17 | 58692790 | splice donor variant | TAACGA/CTAAG | delins | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
4 | 0.882 | 0.200 | 17 | 58709884 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||
|
2 | 1.000 | 17 | 58732512 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2003 | 2017 | ||||||
|
1 | 1.000 | 17 | 58734147 | frameshift variant | TCTGCATGTT/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.925 | 0.200 | 17 | 58720795 | frameshift variant | TTGTTCCTGC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 17 | 58724097 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 1.000 | 17 | 58734130 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 1.000 | 17 | 58692740 | frameshift variant | CA/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 0.925 | 0.120 | 17 | 58696811 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 17 | 58694964 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 0.925 | 17 | 58692790 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58720757 | frameshift variant | ATCA/-;ATCAATCA | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 58692691 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58695035 | stop gained | A/T | snv | 0.700 | 0 |