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Results for "STON2"

Variant Events: 8

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
STON2     1-0640-003chr14:
81821929-81821929
CTintronicDe novo--Yuen2017 G
STON2     2-1379-003chr14:
81832198-81832198
GTintronicDe novo--Yuen2016 G
Yuen2017 G
STON2     13539.p1chr14:
81861914-81861914
TCintronicDe novo--Turner2016 G
STON2     AU4069302chr14:
81801295-81801295
GCintronicDe novo--Yuen2017 G
STON2     12605.p1chr14:
81766884-81766884
CTintronicDe novo--Werling2018 G
STON2     2-1605-004chr14:
81891811-81891811
GTintronicDe novo--Yuen2017 G
STON2     1-0874-003chr14:
81800174-81800174
GTintronicDe novo--Yuen2017 G
STON2     5-0026-003chr14:
81849091-81849091
ACintronicDe 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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