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Results for "GSC"

Variant Events: 22

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
GSC     1-0455-003chr14:
95417374-95417376
CTTCintergenicDe novo--Yuen2017 G
GSC     2-1370-003chr14:
95253135-95253135
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
GSC     7-0023-003chr14:
95294019-95294019
CTintergenicDe novo--Yuen2017 G
GSC     2-1266-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
GSC     AU4176302chr14:
95333558-95333558
CAintergenicDe novo--Yuen2017 G
GSC     7-0273-003chr14:
95464461-95464461
ATintergenicDe novo--Yuen2017 G
GSC     2-0713-003chr14:
95539252-95539252
GAintergenicDe novo--Yuen2017 G
GSC     AU066104chr14:
95324404-95324404
AGintergenicDe novo--Yuen2017 G
GSC     7-0151-003chr14:
95453914-95453914
TAintergenicDe novo--Yuen2017 G
GSC     1-0338-003chr14:
95413482-95413482
GAintergenicDe novo--Yuen2017 G
GSC     A3chr14:
95471060-95471060
GAintergenicDe novo--Wu2018 G
GSC     1-0010-005chr14:
95456446-95456446
AAGintergenicDe novo--Yuen2017 G
GSC     2-1436-003chr14:
95386260-95386260
GAintergenicDe novo--Yuen2017 G
GSC     7-0001-003chr14:
95415228-95415228
GAintergenicDe novo--Yuen2017 G
GSC     AU3649304chr14:
95291390-95291390
CGintergenicDe novo--Yuen2017 G
GSC     A17chr14:
95454868-95454868
GCintergenicDe novo--Wu2018 G
GSC     1-0570-003chr14:
95395426-95395426
CTintergenicDe novo--Yuen2017 G
GSC     2-1362-004chr14:
95385818-95385818
CTintergenicDe novo--Yuen2017 G
GSC     AU2108302chr14:
95352005-95352005
CGintergenicDe novo--Yuen2017 G
GSC     2-1441-003chr14:
95279679-95279679
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
GSC     2-1505-004chr14:
95247855-95247855
GAintergenicDe novo--Yuen2017 G
GSC     AU070007chr14:
95306668-95306668
GCintergenicDe 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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