Variant Results

or

Results for "EYS"

Variant Events: 130

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

EYS

2-1334-003

chr6:
64672173-64672173

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EYS

1-0006-004

chr6:
66149312-66149312

G

A

intronic

De novo

-

Yuen2017 G

EYS

3-0456-000

chr6:
65926693-65926702

ATATATTATA

ATATA

intronic

De novo

-

Yuen2017 G

EYS

AU3712302

chr6:
66445067-66445067

T

C

intergenic

De novo

-

Yuen2017 G

EYS

2-1521-003

chr6:
64723150-64723150

C

T

intronic

De novo

-

Yuen2017 G

EYS

7-0273-003

chr6:
65116713-65116713

A

G

intronic

De novo

-

Yuen2017 G

EYS

1-0259-003

chr6:
65739172-65739172

A

AAGAGTT

intronic

De novo

-

Yuen2017 G

EYS

2-0142-004

chr6:
65759428-65759428

T

C

intronic

De novo

-

Yuen2017 G

EYS

AU024607

chr6:
66342932-66342932

T

C

intronic

De novo

-

Yuen2017 G

EYS

AU072004

chr6:
64977549-64977549

T

G

intronic

De novo

-

Yuen2017 G

EYS

2-0223-004

chr6:
64948981-64948981

T

G

intronic

De novo

-

Yuen2017 G

EYS

7-0135-003

chr6:
65042644-65042649

CACAAC

CAC

intronic

De novo

-

Yuen2017 G

EYS

2-0240-004

chr6:
66446989-66446989

A

G

intergenic

De novo

-

Yuen2017 G

EYS

AU3399303

chr6:
65636535-65636535

T

C

intronic

De novo

-

Yuen2017 G

EYS

13096.p1

chr6:
65146093-65146093

G

A

exonic

De novo

synonymous SNV

NM_001142800
NM_001292009

c.C5901T
c.C5901T

p.N1967N
p.N1967N

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

EYS

1-0522-003

chr6:
65950286-65950286

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU030703

chr6:
65742679-65742679

G

T

intronic

De novo

-

Yuen2017 G

EYS

AU2458303

chr6:
65838231-65838231

G

A

intronic

De novo

-

Yuen2017 G

EYS

AU4024303

chr6:
66481049-66481049

C

T

intergenic

De novo

-

Yuen2017 G

EYS

1-0965-003

chr6:
66087761-66087761

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU034904

chr6:
65548839-65548839

T

C

intronic

De novo

-

Yuen2017 G

EYS

AU2293302

chr6:
65653053-65653053

C

T

intronic

De novo

-

Yuen2017 G

EYS

2-0198-005

chr6:
64632185-64632185

G

T

intronic

De novo

-

Yuen2017 G

EYS

2-0198-005

chr6:
64628103-64628103

C

G

intronic

De novo

-

Yuen2017 G

EYS

2-0256-004

chr6:
66458262-66458272

CATATTCATAA

C

intergenic

De novo

-

Yuen2017 G

EYS

2-0309-004

chr6:
65232960-65232960

C

T

intronic

De novo

-

Yuen2017 G

EYS

7-0248-003

chr6:
65189597-65189597

T

A

intronic

De novo

-

Yuen2017 G

EYS

AU2569303

chr6:
64652466-64652466

A

G

intronic

De novo

-

Yuen2017 G

EYS

AU3605303

chr6:
65540568-65540568

G

T

intronic

De novo

-

Yuen2017 G

EYS

AU024104

chr6:
65713126-65713126

G

C

intronic

De novo

-

Yuen2017 G

EYS

AU3881302

chr6:
64886325-64886325

T

A

intronic

De novo

-

Yuen2017 G

EYS

5-0105-003

chr6:
65826461-65826461

A

C

intronic

De novo

-

Yuen2017 G

EYS

2-1436-003

chr6:
65677179-65677179

C

T

intronic

De novo

-

Yuen2017 G

EYS

1-0547-003

chr6:
65170311-65170314

CAAA

CAA

intronic

De novo

-

Yuen2017 G

EYS

2-0045-003

chr6:
64634412-64634412

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EYS

AU3918301

chr6:
64487319-64487319

G

C

intronic

De novo

-

Yuen2017 G

EYS

1-0186-005

chr6:
65105663-65105663

A

C

intronic

De novo

-

Yuen2017 G

EYS

1-0203-003

chr6:
65753034-65753034

T

A

intronic

De novo

-

Yuen2017 G

EYS

AU2292301

chr6:
66079808-66079808

T

C

intronic

De novo

-

Yuen2017 G

EYS

1-0043-003

chr6:
65704066-65704066

G

A

intronic

De novo

-

Yuen2017 G

EYS

2-1617-003

chr6:
64457033-64457033

G

T

intronic

De novo

-

Yuen2017 G

EYS

3-0456-000B

chr6:
65926693-65926702

ATATATTATA

ATATA

intronic

De novo

-

Yuen2017 G

EYS

7-0077-003

chr6:
66270294-66270297

CATA

CA

intronic

De novo

-

Yuen2017 G

EYS

AU4260303

chr6:
65196476-65196476

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU046703

chr6:
64752413-64752413

G

A

intronic

De novo

-

Yuen2017 G

EYS

AU3645301

chr6:
66435111-66435111

A

G

intergenic

De novo

-

Yuen2017 G

EYS

AU3692301

chr6:
66235529-66235529

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU3846302

chr6:
66153047-66153047

A

G

intronic

De novo

-

Yuen2017 G

EYS

AU3768302

chr6:
64731401-64731401

C

T

intronic

De novo

-

Yuen2017 G

EYS

1-0972-003

chr6:
64989418-64989418

C

G

intronic

De novo

-

Yuen2017 G

EYS

AU3605304

chr6:
65589440-65589440

G

A

intronic

De novo

-

Yuen2017 G

EYS

3-0065-000

chr6:
64556062-64556062

T

C

intronic

De novo

-

Yuen2017 G

EYS

1-0051-004

chr6:
66333134-66333134

T

C

intronic

De novo

-

Yuen2017 G

EYS

2-0057-004

chr6:
66451280-66451280

T

G

intergenic

De novo

-

Yuen2017 G

EYS

1-0051-004

chr6:
64620060-64620060

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU4462302

chr6:
64455122-64455122

C

G

intronic

De novo

-

Yuen2017 G

EYS

7-0148-003

chr6:
65074724-65074724

A

G

intronic

De novo

-

Yuen2017 G

EYS

AU4006302

chr6:
64512481-64512481

C

A

intronic

De novo

-

Yuen2017 G

EYS

1-0028-003

chr6:
65217870-65217870

G

C

intronic

De novo

-

Yuen2017 G

EYS

AU050403

chr6:
66448881-66448881

C

T

intergenic

De novo

-

Yuen2017 G

EYS

2-1005-003

chr6:
66081410-66081410

A

C

intronic

De novo

-

Yuen2017 G

EYS

A23

chr6:
65634432-65634432

T

C

intronic

De novo

-

Wu2018 G

EYS

1-0184-003

chr6:
66334012-66334012

T

C

intronic

De novo

-

Yuen2017 G

EYS

AU2075302

chr6:
64727292-64727292

C

A

intronic

De novo

-

Yuen2017 G

EYS

AU027506

chr6:
65919079-65919079

A

C

intronic

De novo

-

Yuen2017 G

EYS

AU2292302

chr6:
66079808-66079808

T

C

intronic

De novo

-

Yuen2017 G

EYS

A2

chr6:
66301982-66301982

C

T

intronic

De novo

-

Wu2018 G

EYS

SP0001470

chr6:
64488058-64488058

A

T

exonic

De novo

nonsynonymous SNV

NM_001142800
NM_001292009

c.T7739A
c.T7739A

p.L2580H
p.L2580H

11.34

-

Feliciano2019 E
Fu2022 E

EYS

AU2525302

chr6:
66162008-66162008

A

G

intronic

De novo

-

Yuen2017 G

EYS

2-1451-003

chr6:
64787638-64787638

G

A

intronic

De novo

-

Yuen2017 G

EYS

AU3874301

chr6:
65375587-65375587

C

G

intronic

De novo

-

Yuen2017 G

EYS

AU2000304

chr6:
65874023-65874023

T

C

intronic

De novo

-

Yuen2017 G

EYS

1-0804-003

chr6:
65748193-65748200

ATTTTTTT

ATTTTTTTT

intronic

De novo

-

Yuen2017 G

EYS

2-1561-003

chr6:
66103632-66103632

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU4072303

chr6:
66003786-66003786

T

C

intronic

De novo

-

Yuen2017 G

EYS

1-0539-003

chr6:
64646089-64646089

C

T

intronic

De novo

-

Yuen2017 G

EYS

1-0271-004

chr6:
64680920-64680920

C

A

intronic

De novo

-

Yuen2017 G

EYS

2-0145-004

chr6:
65768338-65768338

C

G

intronic

De novo

-

Yuen2017 G

EYS

3-0246-000

chr6:
65016433-65016433

G

C

intronic

De novo

-

Yuen2016 G

EYS

1-0323-004

chr6:
65241726-65241726

T

TGTAA

intronic

De novo

-

Yuen2017 G

EYS

A2

chr6:
64859267-64859267

C

T

intronic

De novo

-

Wu2018 G

EYS

2-1366-003

chr6:
64503985-64503985

C

T

intronic

De novo

-

Yuen2017 G

EYS

1-0566-003

chr6:
64503084-64503084

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU4233301

chr6:
65769131-65769131

T

C

intronic

De novo

-

Yuen2017 G

EYS

AU3790301

chr6:
64760126-64760126

T

G

intronic

De novo

-

Yuen2017 G

EYS

2-1455-003

chr6:
65641812-65641812

G

A

intronic

De novo

-

Yuen2016 G

EYS

2-0286-004

chr6:
64449826-64449826

C

T

intronic

De novo

-

Yuen2017 G

EYS

2-1146-003

chr6:
65132011-65132023

CAGATAGATAGAT

CAGATAGAT

intronic

De novo

-

Yuen2017 G

EYS

AU057404

chr6:
65321650-65321650

A

G

intronic

De novo

-

Yuen2017 G

EYS

AU3646301

chr6:
65448541-65448541

C

G

intronic

De novo

-

Yuen2017 G

EYS

2-1398-003

chr6:
65266360-65266360

G

A

intronic

De novo

-

Yuen2017 G

EYS

AU2100302

chr6:
65297214-65297214

T

C

intronic

De novo

-

Yuen2017 G

EYS

14590.p1

chr6:
64705617-64705617

C

T

intronic

De novo

-

Turner2016 G

EYS

2-0070-004

chr6:
65544625-65544625

C

T

intronic

De novo

-

Yuen2017 G

EYS

12449.p1

chr6:
65895372-65895372

T

C

intronic

De novo

-

Turner2016 G

EYS

14637.p1

chr6:
66163992-66163992

C

T

intronic

De novo

-

Turner2016 G

EYS

13171.p1

chr6:
66180206-66180206

T

A

intronic

De novo

-

Turner2016 G

EYS

AU1308303

chr6:
65033812-65033812

A

C

intronic

De novo

-

Yuen2017 G

EYS

AU3801301

chr6:
66394825-66394829

CCTCT

CCT

intronic

De novo

-

Yuen2017 G

EYS

2-0198-004

chr6:
64632185-64632185

G

T

intronic

De novo

-

Yuen2017 G

EYS

2-1085-004

chr6:
66409994-66409994

C

T

intronic

De novo

-

Yuen2017 G

EYS

2-1132-003

chr6:
65673767-65673767

T

C

intronic

De novo

-

Yuen2017 G

EYS

3-0080-000

chr6:
66256825-66256825

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EYS

2-0198-004

chr6:
64628103-64628103

C

G

intronic

De novo

-

Yuen2017 G

EYS

AU4012302

chr6:
66074733-66074733

A

T

intronic

De novo

-

Yuen2017 G

EYS

2-1567-003

chr6:
65589545-65589545

T

C

intronic

De novo

-

Yuen2017 G

EYS

AU2000305

chr6:
64762897-64762897

T

C

intronic

De novo

-

Yuen2017 G

EYS

AU2787302

chr6:
64983830-64983830

A

G

intronic

De novo

-

Yuen2017 G

EYS

AU4237301

chr6:
64558058-64558058

G

A

intronic

De novo

-

Yuen2017 G

EYS

2-0238-004

chr6:
65354019-65354019

C

T

intronic

De novo

-

Yuen2017 G

EYS

2-1427-003

chr6:
64443822-64443822

A

G

intronic

De novo

-

Yuen2017 G

EYS

AU3839303

chr6:
66487885-66487885

C

T

intergenic

De novo

-

Yuen2017 G

EYS

1-0555-003

chr6:
66388833-66388833

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU3858302

chr6:
66187214-66187214

T

C

intronic

De novo

-

Yuen2017 G

EYS

2-0295-004

chr6:
66201018-66201018

A

G

intronic

De novo

-

Yuen2017 G

EYS

5-0129-003

chr6:
65537207-65537207

T

G

intronic

De novo

-

Yuen2017 G

EYS

AU3190305

chr6:
66310822-66310822

A

C

intronic

De novo

-

Yuen2017 G

EYS

AU2089301

chr6:
64541702-64541702

T

G

intronic

De novo

-

Yuen2017 G

EYS

SSC07063

chr6:
65146093-65146093

G

A

exonic

De novo

synonymous SNV

NM_001142800
NM_001292009

c.C5901T
c.C5901T

p.N1967N
p.N1967N

-

Fu2022 E
Lim2017 E

EYS

5-0077-003

chr6:
64599341-64599341

A

AAG

intronic

De novo

-

Yuen2017 G

EYS

AU1894304

chr6:
64822062-64822062

A

G

intronic

De novo

-

Yuen2017 G

EYS

1-0389-003

chr6:
66205041-66205041

A

G

exonic

De novo

nonsynonymous SNV

NM_198283
NM_001142800
NM_001142801
NM_001292009

c.T263C
c.T263C
c.T263C
c.T263C

p.L88P
p.L88P
p.L88P
p.L88P

13.45

-

Yuen2015 G

EYS

AU2089301

chr6:
64541680-64541680

T

C

intronic

De novo

-

Yuen2017 G

EYS

AU4056302

chr6:
64763907-64763911

CTATA

CTA

intronic

De novo

-

Yuen2017 G

EYS

2-1205-003

chr6:
66198165-66198165

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EYS

SP0046927

chr6:
64499106-64499106

C

G

exonic

De novo

nonsynonymous SNV

NM_001142800
NM_001292009

c.G7423C
c.G7423C

p.D2475H
p.D2475H

17.84

-

Fu2022 E

EYS

AU4159302

chr6:
65152258-65152258

A

G

intronic

De novo

-

Yuen2017 G

EYS

SP0137614

chr6:
65300477-65300477

A

G

exonic

De novo

synonymous SNV

NM_001142800
NM_001292009

c.T5283C
c.T5283C

p.Y1761Y
p.Y1761Y

-

Fu2022 E

EYS

AU4314302

chr6:
65046340-65046340

C

T

intronic

De novo

-

Yuen2017 G

EYS

AU1995302

chr6:
65515575-65515575

G

T

intronic

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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