Variant Results

or

Results for "CA10"

Variant Events: 81

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

CA10

2-1522-003

chr17:
50939213-50939213

T

C

intergenic

De novo

-

Yuen2017 G

CA10

2-1399-003

chr17:
50620645-50620645

T

C

intergenic

De novo

-

Yuen2017 G

CA10

2-1715-003

chr17:
50045735-50045743

GAAATACTA

G

intronic

De novo

-

Yuen2017 G

CA10

2-1155-003

chr17:
50107619-50107619

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CA10

AU4223302

chr17:
50977435-50977435

A

G

intergenic

De novo

-

Yuen2017 G

CA10

1-0569-003

chr17:
50714938-50714938

C

T

intergenic

De novo

-

Yuen2017 G

CA10

1-0715-003

chr17:
50454191-50454191

C

G

intergenic

De novo

-

Yuen2017 G

CA10

AU4067301

chr17:
50847796-50847796

T

C

intergenic

De novo

-

Yuen2017 G

CA10

1-0329-004

chr17:
50363845-50363845

A

C

intergenic

De novo

-

Yuen2017 G

CA10

AU3636302

chr17:
50300620-50300620

T

A

intergenic

De novo

-

Yuen2017 G

CA10

200675699_1082034170

chr17:
50235121-50235121

A

G

exonic

De novo

nonsynonymous SNV

NM_020178
NM_001082533
NM_001082534

c.T26C
c.T26C
c.T26C

p.F9S
p.F9S
p.F9S

14.91

-

Fu2022 E

CA10

5-0087-003

chr17:
50401078-50401078

T

G

intergenic

De novo

-

Yuen2017 G

CA10

2-0306-003

chr17:
50052997-50052997

T

G

intronic

De novo

-

Yuen2016 G

CA10

2-1529-003

chr17:
50962051-50962052

AT

A

intergenic

De novo

-

Yuen2017 G

CA10

1-0338-003

chr17:
50892450-50892450

G

A

intergenic

De novo

-

Yuen2017 G

CA10

DEASD_0100_001

chr17:
49713356-49713356

G

A

exonic

De novo

synonymous SNV

NM_020178
NM_001082533
NM_001082534

c.C649T
c.C649T
c.C649T

p.L217L
p.L217L
p.L217L

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CA10

7-0130-003

chr17:
50727775-50727775

C

CCATAATATTACA

intergenic

De novo

-

Yuen2017 G

CA10

CC1132_201

chr17:
49710999-49710999

G

A

exonic

De novo

nonsynonymous SNV

NM_020178
NM_001082533
NM_001082534

c.C802T
c.C802T
c.C802T

p.R268C
p.R268C
p.R268C

20.5

-

Fu2022 E

CA10

1-0526-003

chr17:
49844126-49844131

TAACTC

T

intronic

De novo

-

Yuen2017 G

CA10

1-0045-004

chr17:
51049342-51049342

G

A

intergenic

De novo

-

Yuen2017 G

CA10

AU051504

chr17:
49957067-49957067

T

C

intronic

De novo

-

Yuen2017 G

CA10

1-0009-004

chr17:
50386317-50386317

A

G

intergenic

De novo

-

Yuen2017 G

CA10

1-0045-004

chr17:
49989553-49989553

C

A

intronic

De novo

-

Yuen2017 G

CA10

1-0925-003

chr17:
50626387-50626387

G

A

intergenic

De novo

-

Yuen2017 G

CA10

1-1004-003

chr17:
49897358-49897358

T

C

intronic

De novo

-

Yuen2017 G

CA10

2-1279-003

chr17:
50713731-50713731

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CA10

2-1357-003

chr17:
50944721-50944721

A

G

intergenic

De novo

-

Yuen2017 G

CA10

1-0871-003

chr17:
50216273-50216273

T

C

intronic

De novo

-

Yuen2017 G

CA10

AU3937301

chr17:
49887851-49887851

G

A

intronic

De novo

-

Yuen2017 G

CA10

1-0206-003

chr17:
50790944-50790944

C

G

intergenic

De novo

-

Yuen2017 G

CA10

1-0863-003

chr17:
50605418-50605418

A

G

intergenic

De novo

-

Yuen2017 G

CA10

2-1148-004

chr17:
50892495-50892495

G

A

intergenic

De novo

-

Yuen2017 G

CA10

AU3888302

chr17:
50273834-50273834

G

A

intergenic

De novo

-

Yuen2017 G

CA10

2-0116-005

chr17:
50703738-50703738

G

A

intergenic

De novo

-

Yuen2017 G

CA10

1-0756-004

chr17:
49728907-49728920

GGTCTACAGCCTAA

G

intronic

De novo

-

Yuen2017 G

CA10

2-0704-003

chr17:
50039168-50039168

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CA10

5-0018-003

chr17:
50745836-50745836

A

C

intergenic

De novo

-

Yuen2017 G

CA10

2-0116-005

chr17:
50960601-50960601

G

A

intergenic

De novo

-

Yuen2017 G

CA10

AU3874301

chr17:
50657509-50657509

C

A

intergenic

De novo

-

Yuen2017 G

CA10

Chen2017:111

chr17:
50235121-50235121

A

G

exonic

De novo

nonsynonymous SNV

NM_020178
NM_001082533
NM_001082534

c.T26C
c.T26C
c.T26C

p.F9S
p.F9S
p.F9S

14.91

-

Chen2017 E

CA10

AU3809302

chr17:
50206047-50206047

G

A

intronic

De novo

-

Yuen2017 G

CA10

2-1242-003

chr17:
50120425-50120425

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CA10

7-0095-004

chr17:
50208066-50208066

C

CTTTTTTTTTGTTTTTTTGT

intronic

De novo

-

Yuen2017 G

CA10

2-0129-004

chr17:
50879537-50879537

A

AT

intergenic

De novo

-

Yuen2017 G

CA10

A12

chr17:
50285129-50285129

C

T

intergenic

De novo

-

Wu2018 G

CA10

2-1384-003

chr17:
50461434-50461434

T

C

intergenic

De novo

-

Yuen2017 G

CA10

1-0045-003

chr17:
50145427-50145427

G

A

intronic

De novo

-

Yuen2017 G

CA10

AU2458303

chr17:
50417640-50417640

G

A

intergenic

De novo

-

Yuen2017 G

CA10

1-0572-003

chr17:
50621550-50621550

C

G

intergenic

De novo

-

Yuen2017 G

CA10

2-1168-003

chr17:
50781614-50781614

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CA10

2-0210-005

chr17:
51037531-51037531

G

T

intergenic

De novo

-

Yuen2017 G

CA10

2-0306-004

chr17:
50052997-50052997

T

G

intronic

De novo

-

Yuen2017 G

CA10

AU3713302

chr17:
50669579-50669587

GTTATTATT

GTTATT

intergenic

De novo

-

Yuen2017 G

CA10

7-0067-003

chr17:
49951035-49951035

G

T

intronic

De novo

-

Yuen2017 G

CA10

AU4233301

chr17:
50147646-50147646

T

G

intronic

De novo

-

Yuen2017 G

CA10

1-0173-004

chr17:
49963361-49963361

G

A

intronic

De novo

-

Yuen2017 G

CA10

2-1620-004

chr17:
50409433-50409433

C

T

intergenic

De novo

-

Yuen2017 G

CA10

2-1736-003

chr17:
50350062-50350071

TTCTCTCTCT

TTCTCT

intergenic

De novo

-

Yuen2017 G

CA10

2-0318-004

chr17:
51056000-51056000

A

G

intergenic

De novo

-

Yuen2017 G

CA10

3-0140-000

chr17:
49750333-49750333

A

G

intronic

De novo

-

Yuen2017 G

CA10

1-0320-003

chr17:
49710999-49710999

G

A

exonic

De novo

nonsynonymous SNV

NM_020178
NM_001082533
NM_001082534

c.C802T
c.C802T
c.C802T

p.R268C
p.R268C
p.R268C

20.5

-

Yuen2015 G

CA10

09C86110

chr17:
50212327-50212327

T

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

CA10

AU4013301

chr17:
51027069-51027069

G

A

intergenic

De novo

-

Yuen2017 G

CA10

1-0325-003

chr17:
49880840-49880840

C

A

intronic

De novo

-

Yuen2017 G

CA10

1-0571-003

chr17:
50410426-50410426

T

C

intergenic

De novo

-

Yuen2017 G

CA10

1-0336-003

chr17:
50722317-50722317

G

A

intergenic

De novo

-

Yuen2017 G

CA10

2-0242-004

chr17:
50891667-50891667

C

CT

intergenic

De novo

-

Yuen2017 G

CA10

2-1305-003

chr17:
50119442-50119442

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CA10

AU3632301

chr17:
50717794-50717794

T

C

intergenic

De novo

-

Yuen2017 G

CA10

2-1731-003

chr17:
50241941-50241941

T

C

intergenic

De novo

-

Yuen2017 G

CA10

CC1132.201

chr17:
49710999-49710999

G

A

exonic

De novo

nonsynonymous SNV

NM_020178
NM_001082533
NM_001082534

c.C802T
c.C802T
c.C802T

p.R268C
p.R268C
p.R268C

20.5

-

Satterstrom2020 E

CA10

AU079104

chr17:
50981004-50981004

T

C

intergenic

De novo

-

Yuen2017 G

CA10

AU4153301

chr17:
50260437-50260437

C

T

intergenic

De novo

-

Yuen2017 G

CA10

3-0447-000

chr17:
50149809-50149809

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CA10

A18

chr17:
50910175-50910175

A

G

intergenic

De novo

-

Wu2018 G

CA10

2-0305-004

chr17:
50549429-50549429

A

G

intergenic

De novo

-

Yuen2017 G

CA10

1-0405-003

chr17:
51030829-51030830

AC

A

intergenic

De novo

-

Yuen2017 G

CA10

2-1427-003

chr17:
50158879-50158879

G

T

intronic

De novo

-

Yuen2017 G

CA10

2-1617-003

chr17:
50915186-50915186

G

A

intergenic

De novo

-

Yuen2017 G

CA10

AU060703

chr17:
50790741-50790741

T

C

intergenic

De novo

-

Yuen2017 G

CA10

AU4032306

chr17:
49801819-49801819

C

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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