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Results for "COL14A1"

Variant Events: 20

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
COL14A1     AU1909304chr8:
121198112-121198112
AGintronicDe novo--Yuen2017 G
COL14A1     AU3190305chr8:
121180581-121180584
AGGGAGGintronicDe novo--Yuen2017 G
COL14A1     80001102279chr8:
121224794-121224794
TCexonicDe novosynonymous SNVNM_021110c.T1575Cp.P525P9.5278.252E-6Lim2017 E
COL14A1     AU4378301chr8:
121402835-121402835
GAintergenicDe novo--Yuen2017 G
COL14A1     1-0552-003chr8:
121227023-121227023
AGintronicDe novo--Yuen2017 G
COL14A1     1-0976-003chr8:
121389557-121389557
AGintergenicDe novo--Yuen2017 G
COL14A1     1-0289-004chr8:
121181159-121181159
AGintronicDe novo--Yuen2017 G
COL14A1     AU3124302chr8:
121374280-121374280
ACintronicDe novo--Yuen2017 G
COL14A1     AU4483301chr8:
121193655-121193655
CTintronicDe novo--Yuen2017 G
COL14A1     JASD_Fam0177chr8:
121211702-121211702
ACexonicDe novosynonymous SNVNM_021110c.A774Cp.G258G--Takata2018 E
COL14A1     5-0061-003chr8:
121325008-121325008
CTintronicDe novo--Yuen2017 G
COL14A1     NP062chr8:
121211702-121211702
ACexonicDe novosynonymous SNVNM_021110c.A774Cp.G258G--Lim2017 E
Satterstrom2020 E
COL14A1     2-1169-004chr8:
121346644-121346644
AGintronicDe novo--Yuen2017 G
COL14A1     14465.p1chr8:
121293862-121293862
AAGintronicDe novo--Werling2018 G
COL14A1     2-1277-004chr8:
121267506-121267506
CAexonicDe novononsynonymous SNVNM_021110c.C2780Ap.A927D14.47-Yuen2017 G
COL14A1     1-0553-003chr8:
121377341-121377341
TCintronicDe novo--Yuen2017 G
COL14A1     AU3692302chr8:
121198156-121198156
CAintronicDe novo--Yuen2017 G
COL14A1     12793.p1chr8:
121323486-121323486
GAintronicDe novo--Turner2016 G
COL14A1     EGAN00001101275chr8:
121301949-121301949
GAexonicDe novononsynonymous SNVNM_021110c.G4180Ap.V1394I5.617-Satterstrom2020 E
COL14A1     DEASD_0073_001chr8:
121302022-121302022
GAintronicDe novo-0.019Kosmicki2017 E
Source Variant Information

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Source:

Paper alias:

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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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