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 | 22 | 50526386 | frameshift variant | AGGGCCGAGC/TT | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526695 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 22 | 50526650 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
22 | 50528205 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
22 | 50528205 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
22 | 50524928 | intron variant | G/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 50524928 | intron variant | G/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.120 | 22 | 50523639 | missense variant | A/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 22 | 50525867 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||||
|
1.000 | 22 | 50526089 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
1.000 | 22 | 50525859 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526244 | splice donor variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||||
|
1.000 | 22 | 50526648 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
1.000 | 22 | 50526467 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
1.000 | 22 | 50526639 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 22 | 50525908 | stop gained | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.200 | 22 | 50524305 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 22 | 50525910 | frameshift variant | -/G | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 22 | 50525898 | frameshift variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 22 | 50524014 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 22 | 50525808 | frameshift variant | -/G | delins |
|
0.700 | 0 |