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Results for "CBLB"

Variant Events: 70

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
CBLB     2-0129-004chr3:
106672242-106672242
AATGGCintergenicDe novo--Yuen2017 G
CBLB     2-1487-003chr3:
106074488-106074488
ATintergenicDe novo--Yuen2017 G
CBLB     AU3997301chr3:
105799290-105799290
TAintergenicDe novo--Yuen2017 G
CBLB     iHART2988chr3:
105586436-105586436
CAsplicingPaternalsplicing14.914.0E-4Ruzzo2019 G
CBLB     7-0192-003chr3:
105445573-105445573
GCintronicDe novo--Yuen2017 G
CBLB     3-0018-000chr3:
105388536-105388536
TCintronicDe novo--Yuen2017 G
CBLB     AU2293302chr3:
106171562-106171562
TCintergenicDe novo--Yuen2017 G
CBLB     AU2108302chr3:
106712561-106712561
ACintergenicDe novo--Yuen2017 G
CBLB     AU3905301chr3:
105734326-105734326
CTintergenicDe novo--Yuen2017 G
CBLB     A11chr3:
105508278-105508278
AGintronicDe novo--Wu2018 G
CBLB     2-0110-003chr3:
106169317-106169317
AGintergenicDe novo--Yuen2017 G
CBLB     AU4072303chr3:
105475780-105475780
GTintronicDe novo--Yuen2017 G
CBLB     2-0122-004chr3:
106328233-106328233
GAintergenicDe novo--Yuen2017 G
CBLB     AU3840302chr3:
105633519-105633519
ACintergenicDe novo--Yuen2017 G
CBLB     1-0059-003chr3:
106793215-106793215
GAintergenicDe novo--Yuen2017 G
CBLB     2-0208-004chr3:
106642292-106642292
CCTAAATintergenicDe novo--Yuen2017 G
CBLB     2-1456-004chr3:
106240547-106240547
CAintergenicDe novo--Yuen2017 G
CBLB     1-0181-004chr3:
106786421-106786421
CTintergenicDe novo--Yuen2017 G
CBLB     AU3913301chr3:
106126050-106126050
TCintergenicDe novo--Yuen2017 G
CBLB     1-0155-003chr3:
106709177-106709177
TCintergenicDe novo--Yuen2017 G
CBLB     AU1952305chr3:
105911759-105911759
GAintergenicDe novo--Yuen2017 G
CBLB     7-0002-003chr3:
106222646-106222648
GTCGintergenicDe novo--Yuen2017 G
CBLB     A16chr3:
105481205-105481205
ACintronicDe novo--Wu2018 G
CBLB     AU051503chr3:
105619398-105619398
AGintergenicDe novo--Yuen2017 G
CBLB     14637.p1chr3:
105931484-105931484
GAintergenicDe novo--Turner2016 G
CBLB     AU031204chr3:
105572009-105572009
CTintronicDe novo--Yuen2017 G
CBLB     1-0834-003chr3:
106085816-106085816
GAintergenicDe novo--Yuen2017 G
CBLB     7-0100-003chr3:
105564203-105564203
CCAGTAintronicDe novo--Yuen2017 G
CBLB     AU2495302chr3:
106087698-106087698
GTintergenicDe novo--Yuen2017 G
CBLB     AU3881302chr3:
106485208-106485208
GAintergenicDe novo--Yuen2017 G
CBLB     1-0534-006chr3:
105799197-105799197
CTintergenicDe novo--Yuen2017 G
CBLB     1-0054-004chr3:
105436622-105436622
ATintronicDe novo--Yuen2017 G
CBLB     1-0447-003chr3:
105424596-105424596
TGintronicDe novo--Yuen2017 G
CBLB     2-1196-003chr3:
105958764-105958764
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
CBLB     1-0896-003chr3:
106301371-106301371
GAintergenicDe novo--Yuen2017 G
CBLB     2-1696-003chr3:
105962123-105962123
TGintergenicDe novo--Yuen2017 G
CBLB     1-0546-003chr3:
105781166-105781166
CAintergenicDe novo--Yuen2017 G
CBLB     2-0298-003chr3:
105990457-105990457
GAintergenicDe novo--Yuen2017 G
CBLB     2-1107-003chr3:
106654893-106654893
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
CBLB     2-0007-004chr3:
106002877-106002877
CGintergenicDe novo--Yuen2017 G
CBLB     AU3190305chr3:
105395332-105395332
AGintronicDe novo--Yuen2017 G
CBLB     2-1357-004chr3:
106740584-106740584
AGintergenicDe novo--Yuen2017 G
CBLB     AU3911302chr3:
106620545-106620545
TCintergenicDe novo--Yuen2017 G
CBLB     AU031203chr3:
105572009-105572009
CTintronicDe novo--Yuen2017 G
CBLB     1-0175-004chr3:
106589779-106589779
AATAATintergenicDe novo--Yuen2017 G
CBLB     1-0756-003chr3:
105968517-105968517
AATGACATATAGTCATGTintergenicDe novo--Yuen2017 G
CBLB     AU056204chr3:
106175541-106175541
CAintergenicDe novo--Yuen2017 G
CBLB     AU1894304chr3:
105946684-105946684
GAintergenicDe novo--Yuen2017 G
CBLB     2-1407-003chr3:
106379923-106379923
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CBLB     2-1195-003chr3:
105600735-105600735
GCintergenicDe novo--Yuen2016 G
CBLB     AU4378301chr3:
105758277-105758277
ATintergenicDe novo--Yuen2017 G
CBLB     2-1268-003chr3:
106607764-106607764
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CBLB     AU2129303chr3:
106289548-106289548
TCintergenicDe novo--Yuen2017 G
CBLB     AU075210chr3:
105757691-105757691
GAintergenicDe novo--Yuen2017 G
CBLB     2-1363-003chr3:
106552299-106552299
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
CBLB     2-0272-003chr3:
106592290-106592290
GAintergenicDe novo--Yuen2017 G
CBLB     5-0148-003chr3:
105967190-105967190
TCintergenicDe novo--Yuen2017 G
CBLB     1-0593-003chr3:
105539188-105539188
GAintronicDe novo--Yuen2017 G
CBLB     AU050704chr3:
106374776-106374776
GCintergenicDe novo--Yuen2017 G
CBLB     AU017703chr3:
105487664-105487664
TAintronicDe novo--Yuen2017 G
CBLB     2-1421-003chr3:
105766116-105766116
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CBLB     2-0238-003chr3:
105766190-105766190
AGintergenicDe novo--Yuen2017 G
CBLB     AU3859301chr3:
105721454-105721454
AGintergenicDe novo--Yuen2017 G
CBLB     1-0541-003chr3:
105965088-105965088
CAintergenicDe novo--Yuen2017 G
CBLB     2-1373-003chr3:
106280258-106280275
AAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAintergenicDe novo--Yuen2017 G
CBLB     5-0140-003chr3:
106170104-106170104
GAintergenicDe novo--Yuen2017 G
CBLB     2-0070-003chr3:
106678249-106678249
CTintergenicDe novo--Yuen2017 G
CBLB     AU061003chr3:
106511861-106511861
AGintergenicDe novo--Yuen2017 G
CBLB     7-0100-004chr3:
105815470-105815470
GCintergenicDe novo--Yuen2017 G
CBLB     2-0264-004chr3:
105503824-105503824
GAintronicDe 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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