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Results for "CWC22"

Variant Events: 46

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CWC22     AU3506302chr2:
181544161-181544161
AGintergenicDe novo--Yuen2017 G
CWC22     2-1180-003chr2:
180926635-180926635
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CWC22     AU4235302chr2:
181261270-181261273
AGGGAGGintergenicDe novo--Yuen2017 G
CWC22     2-1529-003chr2:
180823913-180823913
TCintronicDe novo--Yuen2017 G
CWC22     7-0253-005chr2:
181235515-181235515
CTintergenicDe novo--Yuen2017 G
CWC22     AU2129303chr2:
180953854-180953854
CTintergenicDe novo--Yuen2017 G
CWC22     A5chr2:
180883540-180883540
GCintergenicDe novo--Wu2018 G
CWC22     AU3763305chr2:
181430758-181430758
GCintergenicDe novo--Yuen2017 G
CWC22     Shi2013:1chr2:
180853362-180853362
CAexonicInheritednonsynonymous SNVNM_020943c.G37Tp.G13C18.584.0E-4Shi2013 G
CWC22     1-0539-003chr2:
181180054-181180054
CTintergenicDe novo--Yuen2017 G
CWC22     AU071804chr2:
181451290-181451290
GTintergenicDe novo--Yuen2017 G
CWC22     AU3955303chr2:
181170933-181170933
TCintergenicDe novo--Yuen2017 G
CWC22     1-0079-003chr2:
181249932-181249935
ACTCAintergenicDe novo--Yuen2017 G
CWC22     1-0406-003chr2:
181372058-181372058
CCAATAATAATAATintergenicDe novo--Yuen2017 G
CWC22     AU1795301chr2:
181403909-181403909
ACintergenicDe novo--Yuen2017 G
CWC22     3-0111-000chr2:
181447496-181447496
GAintergenicDe novo--Yuen2016 G
CWC22     2-0503-003chr2:
180941882-180941882
CTintergenicDe novo--Yuen2017 G
CWC22     2-0210-004chr2:
181344187-181344187
AGintergenicDe novo--Yuen2017 G
CWC22     2-1437-004chr2:
181468250-181468250
AAATTAAGintergenicDe novo--Yuen2017 G
CWC22     1-0219-003chr2:
181473021-181473021
TCintergenicDe novo--Yuen2017 G
CWC22     AU3808305chr2:
181137319-181137319
CAintergenicDe novo--Yuen2017 G
CWC22     2-0278-003chr2:
181341118-181341118
CTintergenicDe novo--Yuen2017 G
CWC22     2-1486-003chr2:
181064174-181064174
CTintergenicDe novo--Yuen2017 G
CWC22     7-0253-003chr2:
181464946-181464946
CAintergenicDe novo--Yuen2017 G
CWC22     AU002903chr2:
181118292-181118292
GAintergenicDe novo--Yuen2017 G
CWC22     2-1153-003chr2:
181465929-181465929
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CWC22     AU2975302chr2:
181048627-181048627
AGintergenicDe novo--Yuen2017 G
CWC22     AU3964302chr2:
181455811-181455811
CTintergenicDe novo--Yuen2017 G
CWC22     AU3912302chr2:
181471515-181471515
TAintergenicDe novo--Yuen2017 G
CWC22     2-1153-003chr2:
180832297-180832297
TAintronicDe novo--Yuen2016 G
Yuen2017 G
CWC22     1-0485-003chr2:
181384823-181384823
TGintergenicDe novo--Yuen2017 G
CWC22     AGG0095chr2:
180810009-180810009
ACexonicDe novononsynonymous SNVNM_020943c.T2574Gp.N858K1.652-Satterstrom2020 E
CWC22     2-1486-003chr2:
180968730-180968730
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CWC22     2-0309-005chr2:
180973602-180973602
TCintergenicDe novo--Yuen2017 G
CWC22     2-0503-004chr2:
180941882-180941882
CTintergenicDe novo--Yuen2017 G
CWC22     1-0186-005chr2:
181079616-181079616
GAintergenicDe novo--Yuen2017 G
CWC22     1-0044-003chr2:
181103728-181103728
TGintergenicDe novo--Yuen2017 G
CWC22     2-1398-004chr2:
181093015-181093015
CAintergenicDe novo--Yuen2017 G
CWC22     A9chr2:
181495668-181495668
CTintergenicDe novo--Wu2018 G
CWC22     2-1415-004chr2:
181245618-181245618
GAintergenicDe novo--Yuen2017 G
CWC22     2-1526-003chr2:
181390840-181390840
AGintergenicDe novo--Yuen2017 G
CWC22     5-0033-004chr2:
181299768-181299768
TTAintergenicDe novo--Yuen2017 G
CWC22     2-1127-003chr2:
181426682-181426682
GCintergenicDe novo--Yuen2017 G
CWC22     AU057405chr2:
180991422-180991422
TGintergenicDe novo--Yuen2017 G
CWC22     Shi2013:2chr2:
180853362-180853362
CAexonicInheritednonsynonymous SNVNM_020943c.G37Tp.G13C18.584.0E-4Shi2013 G
CWC22     AU2975301chr2:
181048627-181048627
AGintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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