Variant Results

or

Results for "OPCML"

Variant Events: 85

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

OPCML

2-1215-003

chr11:
132311063-132311063

T

TTTTTTTTTG

intronic

De novo

-

Yuen2017 G

OPCML

1-0359-003

chr11:
133424680-133424680

C

A

intergenic

De novo

-

Yuen2017 G

OPCML

AU4092302

chr11:
132877242-132877242

C

A

intronic

De novo

-

Yuen2017 G

OPCML

AU3900301

chr11:
133157027-133157034

ATTTTTTT

ATTTTTTTT

intronic

De novo

-

Yuen2017 G

OPCML

1-0604-003

chr11:
132707156-132707156

C

T

intronic

De novo

-

Yuen2017 G

OPCML

5-0055-004

chr11:
133121283-133121283

T

C

intronic

De novo

-

Yuen2017 G

OPCML

1-0009-004

chr11:
132924985-132924985

G

A

intronic

De novo

-

Yuen2017 G

OPCML

2-1360-003

chr11:
133080281-133080281

G

A

intronic

De novo

-

Yuen2017 G

OPCML

7-0068-003

chr11:
132504991-132504991

A

G

intronic

De novo

-

Yuen2017 G

OPCML

AU4056302

chr11:
132897483-132897483

G

C

intronic

De novo

-

Yuen2017 G

OPCML

AU066818

chr11:
132526565-132526565

G

A

intronic

De novo

-

Yuen2017 G

OPCML

1-0567-004

chr11:
132569959-132569959

T

C

intronic

De novo

-

Yuen2017 G

OPCML

3-0456-000

chr11:
133380781-133380817

TACACACACACACACACGCACACACACACACACACAC

TACACACACACACACGCACACACACACACACACAC

intronic

De novo

-

Yuen2017 G

OPCML

AU4032305

chr11:
133284030-133284030

G

T

intronic

De novo

-

Yuen2017 G

OPCML

1-0514-003

chr11:
132632612-132632612

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OPCML

1-0443-003

chr11:
133244670-133244670

C

A

intronic

De novo

-

Yuen2016 G

OPCML

AU4433301

chr11:
132685765-132685765

C

A

intronic

De novo

-

Yuen2017 G

OPCML

1-0138-004

chr11:
133002057-133002057

C

T

intronic

De novo

-

Yuen2017 G

OPCML

AU070703

chr11:
132347342-132347342

C

T

intronic

De novo

-

Yuen2017 G

OPCML

AU3859301

chr11:
132312980-132312980

G

A

intronic

De novo

-

Yuen2017 G

OPCML

AU028305

chr11:
133322183-133322190

AAAATCTA

AA

intronic

De novo

-

Yuen2017 G

OPCML

AU4379301

chr11:
132635800-132635800

C

T

intronic

De novo

-

Yuen2017 G

OPCML

1-0006-004

chr11:
133185145-133185145

C

CTT

intronic

De novo

-

Yuen2017 G

OPCML

1-0007-003

chr11:
133450534-133450534

G

C

intergenic

De novo

-

Yuen2017 G

OPCML

AU2139301

chr11:
132303557-132303557

G

C

intronic

De novo

-

Yuen2017 G

OPCML

74-0352

chr11:
133255039-133255039

C

T

intronic

De novo

-

Michaelson2012 G

OPCML

AU4376301

chr11:
133249460-133249460

C

G

intronic

De novo

-

Yuen2017 G

OPCML

2-0088-003

chr11:
132897517-132897517

T

TGTGATGC

intronic

De novo

-

Yuen2017 G

OPCML

2-1425-004

chr11:
132384406-132384406

G

GC

intronic

De novo

-

Yuen2017 G

OPCML

AU005214

chr11:
132306284-132306284

A

G

intronic

De novo

-

Yuen2017 G

OPCML

2-0122-004

chr11:
133009176-133009176

G

A

intronic

De novo

-

Yuen2017 G

OPCML

1-0169-003

chr11:
132897517-132897517

T

TGTGATGC

intronic

De novo

-

Yuen2017 G

OPCML

A3

chr11:
132446810-132446810

C

T

intronic

De novo

-

Wu2018 G

OPCML

2-1374-003

chr11:
133286812-133286812

C

T

intronic

De novo

-

Yuen2017 G

OPCML

1-0901-004

chr11:
133260227-133260227

G

A

intronic

De novo

-

Yuen2017 G

OPCML

1-0566-003

chr11:
132592571-132592571

T

C

intronic

De novo

-

Yuen2017 G

OPCML

AU3905301

chr11:
133087487-133087487

G

A

intronic

De novo

-

Yuen2017 G

OPCML

1-0357-003

chr11:
133236383-133236383

A

G

intronic

De novo

-

Yuen2017 G

OPCML

7-0058-003

chr11:
132677105-132677105

G

A

intronic

De novo

-

Yuen2017 G

OPCML

AU2023302

chr11:
133539679-133539679

C

T

intergenic

De novo

-

Yuen2017 G

OPCML

AU3637301

chr11:
132776047-132776047

C

T

intronic

De novo

-

Yuen2017 G

OPCML

AU3903302

chr11:
133441362-133441362

T

C

intergenic

De novo

-

Yuen2017 G

OPCML

AU3811305

chr11:
132385007-132385007

C

T

intronic

De novo

-

Yuen2017 G

OPCML

2-1444-003

chr11:
132927464-132927464

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OPCML

AU050604

chr11:
133334764-133334764

A

T

intronic

De novo

-

Yuen2017 G

OPCML

1-0162-004

chr11:
132449600-132449600

C

T

intronic

De novo

-

Yuen2017 G

OPCML

AU3777301

chr11:
132354820-132354820

G

A

intronic

De novo

-

Yuen2017 G

OPCML

2-1291-003

chr11:
133002649-133002649

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OPCML

AU026604

chr11:
132522947-132522947

C

T

intronic

De novo

-

Yuen2017 G

OPCML

AU031204

chr11:
133381961-133381963

ACC

ACCC

intronic

De novo

-

Yuen2017 G

OPCML

1-0271-003

chr11:
132392557-132392557

G

A

intronic

De novo

-

Yuen2017 G

OPCML

1-0433-004

chr11:
133174445-133174445

G

A

intronic

De novo

-

Yuen2017 G

OPCML

7-0141-003

chr11:
132633129-132633129

C

T

intronic

De novo

-

Yuen2017 G

OPCML

1-0332-003

chr11:
133189415-133189415

A

ATC

intronic

De novo

-

Yuen2017 G

OPCML

2-1696-003

chr11:
133174729-133174729

T

C

intronic

De novo

-

Yuen2017 G

OPCML

2-1402-003

chr11:
133607876-133607876

C

A

intergenic

De novo

-

Yuen2017 G

OPCML

AU076808

chr11:
133538592-133538592

T

C

intergenic

De novo

-

Yuen2017 G

OPCML

14545.p1

chr11:
133318969-133318969

T

C

intronic

De novo

-

Werling2018 G

OPCML

AU3729303

chr11:
132550660-132550660

T

C

intronic

De novo

-

Yuen2017 G

OPCML

AU3727303

chr11:
133529609-133529609

G

T

intergenic

De novo

-

Yuen2017 G

OPCML

2-0019-004

chr11:
132697947-132697947

A

AAG

intronic

De novo

-

Yuen2017 G

OPCML

1-0636-003

chr11:
132440428-132440428

G

T

intronic

De novo

-

Yuen2017 G

OPCML

AU1668302

chr11:
133537753-133537766

GGAGTCCACCTTCG

GG

intergenic

De novo

-

Yuen2017 G

OPCML

AU2293301

chr11:
133509236-133509236

C

T

intergenic

De novo

-

Yuen2017 G

OPCML

5-0105-003

chr11:
133293647-133293647

G

C

intronic

De novo

-

Yuen2017 G

OPCML

13692.p1

chr11:
133246735-133246737

CTT

C

intronic

De novo

-

Werling2018 G

OPCML

1-0067-004

chr11:
133132122-133132122

C

T

intronic

De novo

-

Yuen2017 G

OPCML

2-0503-004

chr11:
133203377-133203377

C

T

intronic

De novo

-

Yuen2017 G

OPCML

AU009904

chr11:
132504763-132504763

A

C

intronic

De novo

-

Yuen2017 G

OPCML

2-0149-004

chr11:
132897515-132897515

G

GTGTGTTGT

intronic

De novo

-

Yuen2017 G

OPCML

2-0122-003

chr11:
132897651-132897651

G

GGGAATGTAGT

intronic

De novo

-

Yuen2017 G

OPCML

2-1456-003

chr11:
133520060-133520060

G

A

intergenic

De novo

-

Yuen2017 G

OPCML

2-1105-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

OPCML

1-0025-004

chr11:
132486776-132486776

G

A

intronic

De novo

-

Yuen2017 G

OPCML

1-0632-003

chr11:
132303327-132303327

C

T

intronic

De novo

-

Yuen2017 G

OPCML

AU054303

chr11:
132931856-132931856

A

C

intronic

De novo

-

Yuen2017 G

OPCML

1-0380-003

chr11:
132586368-132586368

T

C

intronic

De novo

-

Yuen2017 G

OPCML

1-0935-003

chr11:
133059174-133059174

G

C

intronic

De novo

-

Yuen2017 G

OPCML

AU3760301

chr11:
133506773-133506773

G

A

intergenic

De novo

-

Yuen2017 G

OPCML

5-0129-003

chr11:
133526201-133526201

G

A

intergenic

De novo

-

Yuen2017 G

OPCML

AU4394302

chr11:
132554574-132554574

A

T

intronic

De novo

-

Yuen2017 G

OPCML

1-0201-005

chr11:
132448274-132448274

G

GCTA

intronic

De novo

-

Yuen2017 G

OPCML

1-0292-005

chr11:
132897385-132897385

T

TC

intronic

De novo

-

Yuen2017 G

OPCML

2-1297-004

chr11:
133587592-133587592

G

A

intergenic

De novo

-

Yuen2017 G

OPCML

2-0503-003

chr11:
133203377-133203377

C

T

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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