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 | 1.000 | 0.080 | 13 | 48381393 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 13 | 48459756 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48373494 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48463818 | frameshift variant | CCTC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48367521 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 13 | 48377030 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48379651 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48452981 | intron variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48303948 | frameshift variant | GCCGCCGCTGCCGCCGCGGAACCCCCGGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 13 | 48453001 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 13 | 48342714 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48303991 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 45188848 | frameshift variant | AT/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 13 | 48459750 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48303958 | frameshift variant | -/GGAACCCCCGGCACCGCCGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48347833 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48349012 | stop gained | -/ATTAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48367532 | stop gained | -/AAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48376940 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48376977 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48379592 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48380201 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48381381 | frameshift variant | GAAATGAT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48381420 | frameshift variant | -/TG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 48465033 | frameshift variant | -/AA | ins | 0.700 | 0 |