Variant Results

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Results for "DNAI2"

Variant Events: 11

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

DNAI2

2-1646-003

chr17:
72310936-72310936

G

A

UTR3

De novo

-

-

Yuen2017 G

DNAI2

AU4072303

chr17:
72319604-72319604

C

T

intergenic

De novo

-

-

Yuen2017 G

DNAI2

2-1132-003

chr17:
72294182-72294182

G

A

intronic

De novo

-

-

Yuen2017 G

DNAI2

AU179A

chr17:
72277947-72277947

A

G

splicing

splicing

-

-

Doan2019 E

DNAI2

SP0033910

chr17:
72306184-72306184

G

A

exonic

De novo

nonsynonymous SNV

NM_023036

c.G1376A

p.R459Q

20.7

Fu2022 E

DNAI2

iHART2977

chr17:
72306303-72306303

G

A

splicing

Paternal

splicing

14.75

-

Ruzzo2019 G

DNAI2

AU3680301

chr17:
72278993-72278993

C

G

intronic

De novo

-

-

Yuen2017 G

DNAI2

SP0057168

chr17:
72297388-72297388

A

C

intronic

De novo

-

-

Fu2022 E

DNAI2

2-0007-004

chr17:
72317274-72317274

G

A

intergenic

De novo

-

-

Yuen2017 G

DNAI2

12759.p1

chr17:
72310374-72310374

G

A

UTR3

Mosaic

-

Dou2017 E

DNAI2

1-0160-004

chr17:
72298889-72298889

C

T

intronic

De 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 notes	View
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