Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 13 | 24883255 | frameshift variant | ATGA/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 13 | 24906775 | missense variant | C/G | snv | 1.6E-04 | 2.0E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 13 | 24884443 | inframe insertion | -/CTT | delins | 3.6E-05 | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 13 | 24906631 | frameshift variant | AAGA/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 13 | 24906699 | stop gained | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 13 | 24906187 | frameshift variant | AG/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 13 | 24906156 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 13 | 24906069 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 13 | 24892851 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 13 | 24885671 | splice acceptor variant | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.120 | 13 | 24884083 | missense variant | T/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2005 | 2011 | |||||||
|
0.882 | 0.120 | 13 | 24884083 | missense variant | T/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 13 | 24884083 | missense variant | T/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 13 | 24905576 | missense variant | G/A | snv | 1.5E-03 | 5.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 13 | 24883301 | missense variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 13 | 24884355 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 13 | 24912967 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 13 | 24913008 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 13 | 24913008 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 13 | 24913008 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 13 | 24913008 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 13 | 24913008 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 13 | 24889371 | frameshift variant | ACTG/- | delins | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 13 | 24889371 | frameshift variant | ACTG/- | delins | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 13 | 24906452 | stop gained | G/C | snv | 9.6E-05 | 1.1E-04 |
|
0.700 | 0 |