Variant Results

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Results for "EXOC6"

Variant Events: 18

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

EXOC6

5-0087-003

chr10:
94659781-94659781

C

T

intronic

De novo

-

-

Yuen2017 G

EXOC6

AU002903

chr10:
94802512-94802512

A

G

intronic

De novo

-

-

Yuen2017 G

EXOC6

5-0046-003

chr10:
94720649-94720649

G

T

intronic

De novo

-

-

Yuen2017 G

EXOC6

1-0138-003

chr10:
94598416-94598416

G

T

intronic

De novo

-

-

Yuen2017 G

EXOC6

1-0751-003

chr10:
94754521-94754543

CAATAATAATAATAATAATAATA

CAATAATAATAATAATAATA

intronic

De novo

-

-

Yuen2017 G

EXOC6

2-1406-003

chr10:
94737529-94737529

A

G

intronic

De novo

-

-

Yuen2017 G

EXOC6

AU0780302

chr10:
94625161-94625161

C

T

intronic

De novo

-

-

Yuen2017 G

EXOC6

SP0075552

chr10:
94733815-94733815

T

C

exonic

De novo

synonymous SNV

NM_001013848
NM_019053

c.T1764C
c.T1779C

p.A588A
p.A593A

-

-

Fu2022 E

EXOC6

SP0128163

chr10:
94818101-94818101

C

T

exonic

De novo

stopgain

NM_001013848
NM_019053

c.C2389T
c.C2404T

p.Q797X
p.Q802X

38.0

-

Fu2022 E

EXOC6

SP0131432

chr10:
94659342-94659342

A

G

intronic

De novo

-

Fu2022 E

EXOC6

1-0339-004

chr10:
94667458-94667462

CAGAT

C

intronic

De novo

-

-

Yuen2017 G

EXOC6

Codina-Sola2015:ASD_28

chr10:
94594563-94594563

C

CTATT

exonic

Paternal

frameshift insertion

NM_001013848

c.68_69insTATT

p.P23fs

-

-

Codina-Sola2015 E

EXOC6

1-0126-003

chr10:
94695124-94695124

A

G

intronic

De novo

-

-

Yuen2017 G

EXOC6

2-0296-003

chr10:
94641020-94641020

G

C

intronic

De novo

-

-

Yuen2017 G

EXOC6

12363.p1

chr10:
94659341-94659341

T

C

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

EXOC6

13649.p1

chr10:
94715143-94715143

G

A

intronic

De novo

-

-

Turner2016 G

EXOC6

A4

chr10:
94690262-94690262

A

AAAT

intronic

De novo

-

-

Wu2018 G

EXOC6

1-0206-003

chr10:
94700199-94700199

A

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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