| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.080 | 5 | 140114470 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | |||||
|
42 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | |||||
|
6 | 0.882 | 0.080 | 5 | 140114777 | missense variant | G/C | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 5 | 140114583 | frameshift variant | -/AGGACGAGCCGCGC | delins | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||||
|
1 | 1.000 | 5 | 140114672 | frameshift variant | -/GCCG | delins | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||||
|
5 | 0.882 | 0.080 | 5 | 140114651 | missense variant | T/A | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
6 | 0.882 | 0.080 | 5 | 140114446 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 5 | 140114871 | inframe deletion | TTC/- | delins | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||||
|
1 | 1.000 | 5 | 140114668 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1.000 | 5 | 140114191 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1.000 | 5 | 140114356 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 0.882 | 0.080 | 5 | 140114483 | frameshift variant | TC/-;TCTC | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 5 | 140114231 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114386 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114543 | frameshift variant | -/GC | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114677 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114692 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114905 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114915 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114561 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114786 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 140114800 | frameshift variant | GACGACT/- | del | 0.700 | 0 | |||||||||
|
6 | 0.882 | 0.080 | 5 | 140114991 | inframe deletion | TCT/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | 5 | 140114737 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 5 | 140114905 | frameshift variant | GT/- | delins | 0.700 | 0 |