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 | 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 | |||||||||
|
1 | 1.000 | 17 | 58695097 | stop gained | T/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 58696823 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 58703213 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 58724043 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 58692674 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 58692716 | frameshift variant | G/TTC | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 17 | 58694984 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 17 | 58695148 | frameshift variant | AGAAATTTG/C | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58709955 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.200 | 17 | 58709992 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 58732517 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 58703280 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 17 | 58694970 | frameshift variant | AA/- | delins | 0.700 | 0 | |||||||||
|
8 | 0.790 | 0.160 | 17 | 58703325 | stop gained | C/G | snv | 6.4E-05; 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 17 | 58695174 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 17 | 58709991 | splice donor variant | G/A;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 17 | 58703254 | stop gained | T/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58724038 | splice acceptor variant | A/- | del | 7.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.925 | 17 | 58724049 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 17 | 58734147 | frameshift variant | TCTGCATGTT/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 1.000 | 17 | 58724097 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 |