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Results for "COL16A1"

Variant Events: 13

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
COL16A1     SP0077200chr1:
32151331-32151331
TCexonicDe novononsynonymous SNVNM_001856c.A1925Gp.Q642R5.7672.0E-4Fu2022 E
COL16A1     SP0010732chr1:
32118364-32118364
GAexonicMosaicnonsynonymous SNVNM_001856c.C4703Tp.P1568L17.4-Feliciano2019 E
COL16A1     SP0118519chr1:
32164190-32164190
CAexonicDe novononsynonymous SNVNM_001856c.G284Tp.G95V18.03-Fu2022 E
COL16A1     SP0147378chr1:
32128005-32128005
GCintronicDe novo--Fu2022 E
COL16A1     SP0060679chr1:
32127109-32127109
CTintronicDe novo--Fu2022 E
COL16A1     06C59211chr1:
32118283-32118283
GAexonicDe novononsynonymous SNVNM_001856c.C4784Tp.P1595L23.6-Fu2022 E
Satterstrom2020 E
COL16A1     72-1921chr1:
32160798-32160798
GAexonicInheritednonsynonymous SNVNM_001856c.C970Tp.R324W10.353.451E-5Patowary2019 E
COL16A1     DEASD_1097_001chr1:
32145676-32145676
GTexonicDe novosynonymous SNVNM_001856c.C2637Ap.P879P--Fu2022 E
Satterstrom2020 E
COL16A1     SP0035858chr1:
32157559-32157559
ACintronicDe novo--Fu2022 E
COL16A1     CC1247_202chr1:
32155407-32155407
TGexonicDe novononsynonymous SNVNM_001856c.A1555Cp.N519H11.96-Fu2022 E
COL16A1     2-1425-003chr1:
32138033-32138033
CGexonicDe novononsynonymous SNVNM_001856c.G3089Cp.G1030A16.54-Yuen2015 G
Yuen2017 G
COL16A1     1-0305-004chr1:
32166468-32166468
GAintronicDe novo--Yuen2017 G
COL16A1     CC1330_201chr1:
32145444-32145444
CTexonicDe novosynonymous SNVNM_001856c.G2679Ap.P893P-2.937E-5Fu2022 E
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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