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 | 14 | 95103406 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95104050 | splice acceptor variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95099914 | frameshift variant | -/A | delins | 1.2E-05 | 0.700 | 0 | |||||||||
|
1 | 14 | 95115666 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124548 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124216 | stop gained | G/C | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124326 | stop gained | C/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096282 | stop gained | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096635 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 14 | 95091297 | inframe insertion | -/ATCCCCCAT | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95103352 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
1 | 14 | 95093887 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95108361 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096262 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95111316 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95116453 | frameshift variant | TTTTC/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95103871 | protein altering variant | AATTGCTGTA/T | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95103943 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95116479 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124611 | frameshift variant | TTTATCTGCACACC/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096067 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.040 | 14 | 95113091 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
2 | 1.000 | 0.040 | 14 | 95106198 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 14 | 95115704 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 14 | 95113106 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |