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 | 4 | 3485545 | stop gained | G/A;C | snv | 4.1E-06; 1.2E-05 | 0.800 | 1.000 | 5 | 2006 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 3476491 | missense variant | G/A | snv | 4.0E-05 | 1.4E-05 | 0.800 | 1.000 | 5 | 2006 | 2012 | |||
|
4 | 0.882 | 0.120 | 4 | 3493106 | frameshift variant | -/TGCC | delins | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
2 | 0.925 | 0.120 | 4 | 3493316 | frameshift variant | -/CTGG | delins | 0.700 | 1.000 | 7 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.080 | 4 | 3476522 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 3476356 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2006 | 2012 | |||||
|
2 | 0.925 | 0.120 | 4 | 3489765 | frameshift variant | -/TCTC | delins | 0.700 | 1.000 | 5 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.080 | 4 | 3476425 | missense variant | G/A;C | snv | 4.4E-05; 4.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 3463382 | stop gained | G/A;C;T | snv | 3.2E-05; 8.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 3476447 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 5 | 2006 | 2012 | |||
|
1 | 1.000 | 0.080 | 4 | 3476506 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 2006 | 2012 | |||
|
1 | 1.000 | 0.080 | 4 | 3473535 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 5 | 2006 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 3493119 | frameshift variant | -/G | delins | 0.700 | 1.000 | 4 | 2006 | 2016 | |||||
|
2 | 0.925 | 0.120 | 4 | 3493243 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 3 | 2006 | 2012 | |||||
|
2 | 0.925 | 0.120 | 4 | 3493359 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 2 | 2006 | 2008 | |||||
|
1 | 1.000 | 0.080 | 4 | 3476523 | synonymous variant | C/A;T | snv | 2.0E-05; 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 3493461 | frameshift variant | -/TCCAGTCTGT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 4 | 3485607 | stop gained | C/G;T | snv | 4.1E-06; 8.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 3473637 | splice donor variant | G/T | snv | 1.1E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 3485618 | protein altering variant | CCCCACCAAGGGCC/GGACGGTTCTA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 3493006 | frameshift variant | -/GCCACTGGCAGCCACTCCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 3485552 | frameshift variant | TCCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 3493125 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 3492873 | missense variant | A/G | snv | 0.23 | 0.18 | 0.700 | 0 |