Variant Results

or

or

Results for "CEP128"

Variant Events: 28

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

CEP128

1-0498-003

chr14:
81314439-81314439

T

C

intronic

De novo

-

-

Yuen2017 G

CEP128

1-0455-003

chr14:
81404039-81404039

T

TACA

intronic

De novo

-

-

Yuen2017 G

CEP128

1-0345-004

chr14:
81308779-81308779

T

C

intronic

De novo

-

-

Yuen2017 G

CEP128

2-1254-003

chr14:
81308284-81308284

T

A

intronic

De novo

-

-

Yuen2016 G

CEP128

AU2951303

chr14:
81069359-81069359

A

G

intronic

De novo

-

-

Yuen2017 G

CEP128

7-0248-003

chr14:
81337635-81337635

G

T

intronic

De novo

-

-

Yuen2017 G

CEP128

1-0834-003

chr14:
80986078-80986078

A

G

intronic

De novo

-

-

Yuen2017 G

CEP128

AU049304

chr14:
81109668-81109669

CA

C

intronic

De novo

-

-

Yuen2017 G

CEP128

AU2072302

chr14:
81120630-81120630

A

G

intronic

De novo

-

-

Yuen2017 G

CEP128

2-1266-003

chr14:
81413266-81413266

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CEP128

AU2951302

chr14:
81069359-81069359

A

G

intronic

De novo

-

-

Yuen2017 G

CEP128

2-0127-004

chr14:
81278240-81278240

G

T

intronic

De novo

-

-

Yuen2017 G

CEP128

11294.p1

chr14:
81302669-81302669

G

A

exonic

De novo

nonsynonymous SNV

NM_152446

c.C937T

p.R313C

17.26

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

CEP128

1-0191-003

chr14:
81091999-81091999

C

T

intronic

De novo

-

-

Yuen2017 G

CEP128

AU2975302

chr14:
81083529-81083529

T

C

intronic

De novo

-

-

Yuen2017 G

CEP128

A16

chr14:
80969320-80969320

A

G

intronic

De novo

-

-

Wu2018 G

CEP128

1-0112-004

chr14:
80972405-80972407

GGA

G

intronic

De novo

-

-

Yuen2017 G

CEP128

EGAN00001101026

chr14:
81362124-81362124

C

A

exonic

De novo

stopgain

NM_152446

c.G583T

p.E195X

38.0

Satterstrom2020 E

CEP128

13637.p1

chr14:
81015640-81015640

C

T

intronic

De novo

-

-

Wilfert2021 G

CEP128

AU4033303

chr14:
81063964-81063979

CAAAGAAAGAAAGAAA

CAAAGAAAGAAA

intronic

De novo

-

-

Yuen2017 G

CEP128

AU3649305

chr14:
81171212-81171212

T

C

intronic

De novo

-

-

Yuen2017 G

CEP128

A24

chr14:
81186003-81186003

G

A

intronic

De novo

-

-

Wu2018 G

CEP128

AU3124302

chr14:
81014564-81014564

C

A

intronic

De novo

-

-

Yuen2017 G

CEP128

AU3154301

chr14:
81114324-81114324

T

A

intronic

De novo

-

-

Yuen2017 G

CEP128

AU4336301

chr14:
81090125-81090125

T

C

intronic

De novo

-

-

Yuen2017 G

CEP128

2-1508-004

chr14:
81057398-81057398

T

C

intronic

De novo

-

-

Yuen2017 G

CEP128

1-0006-004

chr14:
81028738-81028738

A

AT

intronic

De novo

-

-

Yuen2017 G

CEP128

SP0036859

chr14:
81302622-81302622

A

G

exonic

De novo

synonymous SNV

NM_152446

c.T984C

p.H328H

4.038

-

Feliciano2019 E

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
	More