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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302225 | frameshift variant | TGTCG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 47122237 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 12 | 11839202 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302267 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302347 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302274 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302213 | frameshift variant | -/TAGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302095 | frameshift variant | -/CA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302197 | frameshift variant | -/G | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 99295133 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 171410541 | frameshift variant | -/CATG;CGTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 171410540 | frameshift variant | -/CCTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33301423 | inframe insertion | -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33301463 | inframe insertion | -/GCTCCAGCACCTTCTGCTGCGTCTCCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302076 | frameshift variant | GGGCGCGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302295 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 171410549 | frameshift variant | GGAGGAA/CCCTGGCTAGG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 177210250 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 20 | 2417445 | missense variant | T/G | snv | 1.5E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 13 | 28018487 | inframe insertion | -/TCCGGA | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 4 | 105234864 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 12 | 11890994 | protein altering variant | -/GGG | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 171410539 | frameshift variant | -/TCTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302294 | frameshift variant | GCGGGGC/- | delins | 0.700 | 0 |