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 | 0.040 | 19 | 33302164 | missense variant | T/A | snv | 0.800 | 1.000 | 5 | 2001 | 2013 | |||||
|
1 | 1.000 | 0.040 | 19 | 33302225 | frameshift variant | TGTCG/- | del | 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 | 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 | 19 | 33302294 | frameshift variant | GCGGGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302200 | frameshift variant | -/CCGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33302132 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 19 | 33302027 | missense variant | C/T | snv | 2.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 |