Variant Results

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Results for "EML1"

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

EML1

1-0408-003

chr14:
100314475-100314475

T

A

intronic

De novo

-

-

Yuen2016 G

EML1

AU2137304

chr14:
100399595-100399595

C

T

intronic

De novo

-

-

Yuen2017 G

EML1

AU3858303

chr14:
100414306-100414306

A

G

intergenic

De novo

-

-

Yuen2017 G

EML1

5-0125-003

chr14:
100421967-100421967

A

G

intergenic

De novo

-

-

Yuen2017 G

EML1

1-0324-003

chr14:
100269679-100269679

A

G

intronic

De novo

-

-

Yuen2017 G

EML1

AU3175303

chr14:
100395075-100395075

G

A

intronic

De novo

-

-

Yuen2017 G

EML1

Schaaf2011:23

chr14:
100375794-100375794

A

G

exonic

Unknown

nonsynonymous SNV

NM_004434
NM_001008707

c.A1217G
c.A1274G

p.N406S
p.N425S

4.217

Schaaf2011 T

EML1

AU4186302

chr14:
100411677-100411677

G

A

intergenic

De novo

-

-

Yuen2017 G

EML1

2-1426-003

chr14:
100501184-100501185

TA

TAA

intergenic

De novo

-

-

Yuen2017 G

EML1

7-0247-003

chr14:
100327630-100327630

C

T

intronic

De novo

-

-

Yuen2017 G

EML1

AU000704

chr14:
100313605-100313605

A

G

intronic

De novo

-

-

Yuen2017 G

EML1

Schaaf2011:24

chr14:
100380564-100380564

G

A

exonic

Unknown

nonsynonymous SNV

NM_004434
NM_001008707

c.G1543A
c.G1600A

p.D515N
p.D534N

15.32

Schaaf2011 T

EML1

AU3955303

chr14:
100467209-100467209

A

G

intergenic

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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