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Results for "EXOC4"

Variant Events: 52

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
EXOC4     AU1404301chr7:
133253480-133253480
AGintronicDe novo--Yuen2017 G
EXOC4     1-0339-004chr7:
133754085-133754085
TTCTTCCTTCTCCCintergenicDe novo--Yuen2017 G
EXOC4     1-0629-003chr7:
133569192-133569192
TCintronicDe novo--Yuen2017 G
EXOC4     2-0307-003chr7:
132945321-132945321
GAintronicDe novo--Yuen2017 G
EXOC4     1-0593-003chr7:
133382956-133382956
CTintronicDe novo--Yuen2017 G
EXOC4     7-0044-003chr7:
133253816-133253816
TAintronicDe novo--Yuen2017 G
EXOC4     AU2333302chr7:
133091823-133091823
CGintronicDe novo--Yuen2017 G
EXOC4     1-0464-003chr7:
133623305-133623305
CGintronicDe novo--Yuen2016 G
Yuen2017 G
EXOC4     1-0533-003chr7:
133681777-133681777
AGintronicDe novo--Yuen2017 G
EXOC4     1-0708-003chr7:
133026992-133026992
CTintronicDe novo--Yuen2017 G
EXOC4     1-0246-004chr7:
133277930-133277930
AGintronicDe novo--Yuen2017 G
EXOC4     2-1425-004chr7:
133380854-133380855
TCTintronicDe novo--Yuen2017 G
EXOC4     1-0190-003chr7:
133365465-133365465
TGintronicDe novo--Yuen2017 G
EXOC4     2-1337-003chr7:
133595740-133595740
ATintronicDe novo--Yuen2016 G
Yuen2017 G
EXOC4     AU3858303chr7:
132958291-132958291
CTintronicDe novo--Yuen2017 G
EXOC4     2-0088-003chr7:
133338206-133338206
CGintronicDe novo--Yuen2017 G
EXOC4     AU034904chr7:
133263198-133263198
CTintronicDe novo--Yuen2017 G
EXOC4     AU060004chr7:
133536905-133536905
CTintronicDe novo--Yuen2017 G
EXOC4     7-0095-003chr7:
133545671-133545671
CTintronicDe novo--Yuen2017 G
EXOC4     1-0336-003chr7:
133210653-133210653
GTintronicDe novo--Yuen2017 G
EXOC4     2-1146-003chr7:
133188189-133188189
TGintronicDe novo--Yuen2017 G
EXOC4     SP0007038chr7:
133041090-133041090
AGexonicDe novononsynonymous SNVNM_001037126
NM_021807
c.A770G
c.A770G
p.E257G
p.E257G
9.625-Feliciano2019 E
EXOC4     A7chr7:
133650203-133650203
TCintronicDe novo--Wu2018 G
EXOC4     1-0354-006chr7:
133801511-133801520
CAGGGGCCCGCintergenicDe novo--Yuen2017 G
EXOC4     A10chr7:
133718101-133718101
GAintronicDe novo--Wu2018 G
EXOC4     2-1632-003chr7:
133192685-133192685
CAintronicDe novo--Yuen2017 G
EXOC4     5-0061-003chr7:
133275916-133275916
CTintronicDe novo--Yuen2017 G
EXOC4     7-0160-003chr7:
133738846-133738846
GAintronicDe novo--Yuen2017 G
EXOC4     3-0446-000chr7:
133560780-133560780
TGintronicDe novo--Yuen2016 G
Yuen2017 G
EXOC4     1-0304-003chr7:
133689775-133689775
AGexonicDe novononsynonymous SNVNM_021807c.A2459Gp.D820G20.18.247E-6Yuen2016 G
Yuen2017 G
EXOC4     2-1702-004chr7:
133301469-133301469
TCintronicDe novo--Yuen2017 G
EXOC4     AU2089302chr7:
133151869-133151869
CTintronicDe novo--Yuen2017 G
EXOC4     1-0433-003chr7:
133298263-133298263
TCintronicDe novo--Yuen2017 G
EXOC4     AU024004chr7:
133225488-133225488
TCintronicDe novo--Yuen2017 G
EXOC4     AU1987304chr7:
133471668-133471668
AGintronicDe novo--Yuen2017 G
EXOC4     AU0039303chr7:
133349749-133349749
GAintronicDe novo--Yuen2017 G
EXOC4     AU071203chr7:
133636289-133636289
GAintronicDe novo--Yuen2017 G
EXOC4     2-1421-003chr7:
133717792-133717792
AGintronicDe novo--Yuen2017 G
EXOC4     2-0300-004chr7:
133570318-133570318
TTTAGCintronicDe novo--Yuen2017 G
EXOC4     SP0034444chr7:
133689803-133689803
CTexonicDe novosynonymous SNVNM_021807c.C2487Tp.S829S-5.0E-4Feliciano2019 E
EXOC4     2-1730-003chr7:
133631958-133631958
AGintronicDe novo--Yuen2017 G
EXOC4     2-1085-003chr7:
133291780-133291780
CTintronicDe novo--Yuen2017 G
EXOC4     1-0278-003chr7:
133389048-133389048
GAintronicDe novo--Yuen2016 G
EXOC4     12175.p1chr7:
132982269-132982269
CTintronicDe novo--Turner2016 G
EXOC4     12449.p1chr7:
133705175-133705175
CTintronicDe novo--Turner2016 G
EXOC4     1-0321-004chr7:
133441383-133441383
AGintronicDe novo--Yuen2017 G
EXOC4     1-0483-003chr7:
133194848-133194850
CAACAintronicDe novo--Yuen2017 G
EXOC4     2-1505-003chr7:
133515827-133515827
CTintronicDe novo--Yuen2017 G
EXOC4     AU006804chr7:
133306379-133306379
CGintronicDe novo--Yuen2017 G
EXOC4     5-0148-003chr7:
133517127-133517127
AGintronicDe novo--Yuen2017 G
EXOC4     AU0786305chr7:
133010674-133010680
CTTTTTTCTTTTTTTintronicDe novo--Yuen2017 G
EXOC4     AU4423303chr7:
133117998-133117998
CGintronicDe 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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