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Results for "COL21A1"

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
COL21A1     iHART2553chr6:
55929393-55929395
CCTCexonicPaternalframeshift deletionNM_030820c.2153_2154delp.Q718fs-4.0E-4Ruzzo2019 G
COL21A1     3-0216-000chr6:
56199910-56199910
TCintergenicDe novo--Yuen2017 G
COL21A1     iHART2554chr6:
55929393-55929395
CCTCexonicPaternalframeshift deletionNM_030820c.2153_2154delp.Q718fs-4.0E-4Ruzzo2019 G
COL21A1     AU056204chr6:
56318993-56318993
TCintergenicDe novo--Yuen2017 G
COL21A1     2-1741-003chr6:
56269818-56269818
TCintergenicDe novo--Yuen2017 G
COL21A1     iHART3018chr6:
56044484-56044484
CAexonicPaternalstopgainNM_030820c.G532Tp.E178X29.19.989E-5Ruzzo2019 G
COL21A1     1-0010-003chr6:
56138966-56138966
CGintergenicDe novo--Yuen2017 G
COL21A1     7-0167-003chr6:
55995774-55995774
GCintronicDe novo--Yuen2017 G
COL21A1     iHART2112chr6:
55925808-55925808
GAexonicPaternalstopgainNM_030820c.C2233Tp.R745X37.04.227E-5Ruzzo2019 G
COL21A1     iHART2111chr6:
55925808-55925808
GAexonicPaternalstopgainNM_030820c.C2233Tp.R745X37.04.227E-5Ruzzo2019 G
COL21A1     2-1502-003chr6:
56135234-56135234
TGintergenicDe novo--Yuen2017 G
COL21A1     2-1428-003chr6:
56319550-56319550
ACintergenicDe novo--Yuen2017 G
COL21A1     SP0018075chr6:
55929393-55929395
CCTCexonicDe novoframeshift deletionNM_030820c.2153_2154delp.Q718fs-4.0E-4Feliciano2019 E
COL21A1     1-0756-004chr6:
56136938-56136938
CTintergenicDe novo--Yuen2017 G
COL21A1     14637.p1chr6:
56191534-56191534
GAintergenicDe novo--Turner2016 G
COL21A1     1-0190-003chr6:
56107062-56107062
CTintronicDe novo--Yuen2017 G
COL21A1     3-0661-000chr6:
56159103-56159103
ACintergenicDe novo--Yuen2017 G
COL21A1     13171.p1chr6:
56231645-56231645
CTintergenicDe novo--Turner2016 G
COL21A1     12680.p1chr6:
56263245-56263245
GAintergenicDe novo--Turner2016 G
COL21A1     1-0567-003chr6:
56112939-56112939
CAupstreamDe 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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