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 | 17 | 58724038 | splice acceptor variant | A/C;G | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2013 | 2016 | |||||
|
2 | 1.000 | 17 | 58692789 | splice donor variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 1.000 | 17 | 58724037 | splice acceptor variant | CAGGG/- | del | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
2 | 1.000 | 17 | 58732523 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2017 | |||||
|
2 | 1.000 | 17 | 58703195 | splice acceptor variant | G/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 17 | 58732512 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 17 | 58720757 | frameshift variant | ATCA/-;ATCAATCA | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58703194 | splice acceptor variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 17 | 58695035 | stop gained | A/T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58709991 | splice donor variant | G/- | del | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58724097 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58709955 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58694970 | frameshift variant | AA/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.200 | 17 | 58724069 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 17 | 58695174 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58720744 | splice acceptor variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 17 | 58703254 | stop gained | T/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58694964 | frameshift variant | CT/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58703330 | splice donor variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58724038 | splice acceptor variant | A/- | del | 7.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.925 | 17 | 58696702 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 11 | 2010 | 2017 | ||||
|
3 | 0.925 | 17 | 58720817 | splice region variant | G/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 2010 | 2015 | ||||
|
3 | 0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins | 0.700 | 1.000 | 6 | 2012 | 2017 | ||||||
|
3 | 0.925 | 17 | 58724090 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||
|
3 | 0.925 | 17 | 58724038 | splice acceptor variant | AG/- | del | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2016 |