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Results for "CARD18"

Variant Events: 24

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
CARD18     2-1398-004chr11:
105148577-105148577
TCintergenicDe novo--Yuen2017 G
CARD18     7-0248-003chr11:
105058696-105058696
ACintergenicDe novo--Yuen2017 G
CARD18     2-1363-003chr11:
105042371-105042371
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
CARD18     AU2000305chr11:
105318074-105318074
TCintergenicDe novo--Yuen2017 G
CARD18     AU3885305chr11:
105445424-105445424
AGintergenicDe novo--Yuen2017 G
CARD18     AU4056302chr11:
105144378-105144378
CTintergenicDe novo--Yuen2017 G
CARD18     2-1430-003chr11:
105205070-105205070
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CARD18     13143.p1chr11:
105011784-105011784
CCAintergenicDe novo--Wilfert2021 G
CARD18     1-0406-003chr11:
105049575-105049575
CTintergenicDe novo--Yuen2017 G
CARD18     2-1196-003chr11:
105100472-105100472
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CARD18     2-1526-004chr11:
105381651-105381651
CTintergenicDe novo--Yuen2017 G
CARD18     1-0296-004chr11:
105093346-105093346
GAintergenicDe novo--Yuen2017 G
CARD18     1-0385-003chr11:
105029497-105029497
TGintergenicDe novo--Yuen2017 G
CARD18     2-1196-003chr11:
105191070-105191070
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CARD18     1-0210-004chr11:
105143987-105143987
TCintergenicDe novo--Yuen2017 G
CARD18     AU008505chr11:
105138535-105138535
AGintergenicDe novo--Yuen2017 G
CARD18     AU3937301chr11:
105466449-105466458
TTGGTACCTGTTGintergenicDe novo--Yuen2017 G
CARD18     AU4056301chr11:
105397001-105397001
TCintergenicDe novo--Yuen2017 G
CARD18     1-0092-004chr11:
105338595-105338595
AAAGTGATTintergenicDe novo--Yuen2017 G
CARD18     AU0146301chr11:
105195629-105195629
GAintergenicDe novo--Yuen2017 G
CARD18     1-0551-004chr11:
105435467-105435467
ATintergenicDe novo--Yuen2017 G
CARD18     AU3808304chr11:
105114116-105114116
GAintergenicDe novo--Yuen2017 G
CARD18     1-0701-003chr11:
105413218-105413218
AGintergenicDe novo--Yuen2017 G
CARD18     7-0059-003chr11:
105429056-105429056
ACintergenicDe 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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