Variant Results

or

Results for "EYA1"

Variant Events: 65

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

EYA1

AU050704

chr8:
72470662-72470662

G

A

intergenic

De novo

-

Yuen2017 G

EYA1

1-0736-003

chr8:
72124949-72124949

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EYA1

2-0297-004

chr8:
72494200-72494200

G

A

intergenic

De novo

-

Yuen2017 G

EYA1

3-0661-000

chr8:
72371752-72371752

G

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

EYA1

AU054103

chr8:
72574506-72574508

CAA

C

intergenic

De novo

-

Yuen2017 G

EYA1

AU3885305

chr8:
72129201-72129201

T

C

exonic

De novo

nonsynonymous SNV

NM_172059
NM_172060
NM_172058
NM_000503
NM_001288574
NM_001288575

c.A1093G
c.A1099G
c.A1198G
c.A1198G
c.A1180G
c.A832G

p.S365G
p.S367G
p.S400G
p.S400G
p.S394G
p.S278G

16.11

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

EYA1

AU3806304

chr8:
72249861-72249861

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EYA1

13881.p1

chr8:
72246332-72246332

C

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_172060
NM_172058
NM_172059
NM_000503
NM_001288574

c.G103C
c.G202C
c.G202C
c.G202C
c.G202C

p.A35P
p.A68P
p.A68P
p.A68P
p.A68P

25.1

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

EYA1

AU076704

chr8:
72527400-72527400

G

A

intergenic

De novo

-

Yuen2017 G

EYA1

7-0266-003

chr8:
72111650-72111650

C

T

exonic

De novo

synonymous SNV

NM_172059
NM_172060
NM_172058
NM_000503
NM_001288574
NM_001288575

c.G1599A
c.G1605A
c.G1704A
c.G1704A
c.G1686A
c.G1338A

p.A533A
p.A535A
p.A568A
p.A568A
p.A562A
p.A446A

-

5.336E-5

Trost2022 G
Zhou2022 GE

EYA1

1-0206-003

chr8:
72206469-72206469

T

C

intronic

De novo

-

Yuen2017 G

EYA1

1-0763-004

chr8:
72676266-72676266

C

A

intergenic

De novo

-

Yuen2017 G

EYA1

SP0043623

chr8:
72129172-72129172

T

C

intronic

De novo

-

Fu2022 E

EYA1

AU3713302

chr8:
72643495-72643495

T

C

intergenic

De novo

-

Yuen2017 G

EYA1

2-1561-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

EYA1

MSSNG00429-003

chr8:
72176456-72176456

C

G

intronic

De novo

-

Trost2022 G

EYA1

1-0595-005

chr8:
72206572-72206572

T

C

intronic

De novo

-

Trost2022 G

EYA1

1-0296-003

chr8:
72382627-72382627

A

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

EYA1

5-0009-003

chr8:
72144655-72144658

GACA

G

intronic

De novo

-

Trost2022 G

EYA1

AU070007

chr8:
72639461-72639461

T

C

intergenic

De novo

-

Yuen2017 G

EYA1

MSSNG00347-003

chr8:
72158399-72158399

C

T

intronic

De novo

-

Trost2022 G

EYA1

10-1104-004

chr8:
72112806-72112806

G

A

intronic

De novo

-

Trost2022 G

EYA1

5-0025-003

chr8:
72206678-72206678

G

GC

intronic

De novo

-

Yuen2017 G

EYA1

2-1366-003

chr8:
72129010-72129010

C

A

exonic

De novo

nonsynonymous SNV

NM_172059
NM_172060
NM_172058
NM_000503
NM_001288574
NM_001288575

c.G1172T
c.G1178T
c.G1277T
c.G1277T
c.G1259T
c.G911T

p.G391V
p.G393V
p.G426V
p.G426V
p.G420V
p.G304V

26.8

-

Trost2022 G

EYA1

5-0050-004

chr8:
72206678-72206678

G

GC

intronic

De novo

-

Yuen2017 G

EYA1

SP0038596

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

SP0064047

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

3-0721-000

chr8:
72264734-72264734

C

T

intronic

De novo

-

Trost2022 G

EYA1

7-0346-003

chr8:
72267816-72267816

T

C

intronic

De novo

-

Trost2022 G

EYA1

MSSNG00006-004

chr8:
72222880-72222880

T

G

intronic

De novo

-

Trost2022 G

EYA1

2-1243-003

chr8:
72244846-72244846

C

T

intronic

De novo

-

Trost2022 G

EYA1

3-0515-000

chr8:
72206572-72206572

T

C

intronic

De novo

-

Trost2022 G

EYA1

1-0037-004

chr8:
72219988-72219988

G

A

intronic

De novo

-

Trost2022 G

EYA1

SP0204237

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

AU4273304

chr8:
72642823-72642824

TG

T

intergenic

De novo

-

Yuen2017 G

EYA1

MT_16.3

chr8:
72282446-72282446

C

T

intergenic

De novo

-

Trost2022 G

EYA1

SP0189332

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

SP0193522

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

1-0382-003

chr8:
72558881-72558881

A

T

intergenic

De novo

-

Yuen2017 G

EYA1

AU3808304

chr8:
72638687-72638687

C

T

intergenic

De novo

-

Yuen2017 G

EYA1

SP0097795

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

SP0149915

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

SP0087104

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

SP0091415

chr8:
72274390-72274390

C

T

UTR5

De novo

-

Trost2022 G

EYA1

1-0763-003

chr8:
72206465-72206465

C

T

intronic

De novo

-

Yuen2017 G

EYA1

5-0105-003

chr8:
72491996-72491996

G

A

intergenic

De novo

-

Yuen2017 G

EYA1

MT_30.3

chr8:
72413363-72413363

A

G

intergenic

De novo

-

Trost2022 G

EYA1

MSSNG00368-003

chr8:
72364079-72364079

G

A

intergenic

De novo

-

Trost2022 G

EYA1

3-0207-000

chr8:
72412881-72412881

G

A

intergenic

De novo

-

Trost2022 G

EYA1

AU2310301

chr8:
72285919-72285919

A

G

intergenic

De novo

-

Trost2022 G

EYA1

3-0604-000

chr8:
72325239-72325239

A

G

intergenic

De novo

-

Trost2022 G

EYA1

AU034903

chr8:
72268961-72268961

G

A

intronic

De novo

-

Yuen2017 G

EYA1

1-0546-003

chr8:
72116774-72116774

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EYA1

1-0381-003

chr8:
72728533-72728547

CAGAGAGAGAGAGAG

CAGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

EYA1

A11

chr8:
72743715-72743715

T

C

intergenic

De novo

-

Wu2018 G

EYA1

13515.p1

chr8:
72564038-72564038

T

C

intergenic

De novo

-

Turner2016 G

EYA1

AU000704

chr8:
72321027-72321027

T

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

EYA1

1-0450-003

chr8:
72276750-72276750

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

EYA1

1-0595-004

chr8:
72206678-72206678

G

GC

intronic

De novo

-

Yuen2017 G

EYA1

SSC08607

chr8:
72246332-72246332

C

G

exonic

De novo

nonsynonymous SNV

NM_172060
NM_172058
NM_172059
NM_000503
NM_001288574

c.G103C
c.G202C
c.G202C
c.G202C
c.G202C

p.A35P
p.A68P
p.A68P
p.A68P
p.A68P

25.1

-

Fu2022 E
Lim2017 E
Trost2022 G

EYA1

7-0097-003

chr8:
72578389-72578389

C

T

intergenic

De novo

-

Yuen2017 G

EYA1

74-0688

chr8:
72344451-72344451

G

A

intergenic

De novo

-

Michaelson2012 G

EYA1

1-0458-005

chr8:
72719363-72719363

G

A

intergenic

De novo

-

Yuen2017 G

EYA1

2-0135-004

chr8:
72166908-72166908

C

T

intronic

De novo

-

Yuen2017 G

EYA1

2-1461-003

chr8:
72586395-72586395

C

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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