Variant Results

or

Results for "CNTN5"

Variant Events: 153

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

CNTN5

1-0126-004

chr11:
99601758-99601758

A

T

intronic

De novo

-

Yuen2017 G

CNTN5

AU1725306

chr11:
98098397-98098397

G

C

intergenic

De novo

-

Yuen2017 G

CNTN5

AU2140305

chr11:
100324010-100324010

T

A

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0321-004

chr11:
98182770-98182770

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0225-003

chr11:
99423558-99423572

CCTCTCTCTCTCTCT

CCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

CNTN5

AU2756306

chr11:
99647698-99647698

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

7-0080-003

chr11:
98115701-98115701

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1336-003

chr11:
98220047-98220047

A

G

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3702307

chr11:
99377720-99377720

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

AU4365302

chr11:
97964785-97964791

TAAAAAA

T

intergenic

De novo

-

Yuen2017 G

CNTN5

AU063005

chr11:
97209856-97209856

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

AU4433301

chr11:
97417824-97417824

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

7-0255-003

chr11:
100356898-100356898

A

C

intergenic

De novo

-

Yuen2017 G

CNTN5

2-0300-003

chr11:
99766104-99766104

A

C

intronic

De novo

-

Yuen2017 G

CNTN5

AU3716301

chr11:
98272923-98272923

C

G

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3648301

chr11:
100328647-100328647

T

A

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3716301

chr11:
99717907-99717907

T

A

intronic

De novo

-

Yuen2017 G

CNTN5

2-0098-003

chr11:
100449434-100449434

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1148-004

chr11:
97530369-97530369

A

T

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0533-003

chr11:
100109784-100109784

C

T

intronic

De novo

-

Yuen2017 G

CNTN5

5-0017-004

chr11:
97982910-97982910

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

AU030703

chr11:
100145751-100145751

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

7-0135-003

chr11:
99535110-99535110

G

T

intronic

De novo

-

Yuen2017 G

CNTN5

2-1384-003

chr11:
99668324-99668324

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

2-1477-003

chr11:
97055819-97055819

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTN5

7-0223-003

chr11:
96896988-96896988

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

AU4197301

chr11:
98143795-98143795

G

C

intergenic

De novo

-

Yuen2017 G

CNTN5

2-0310-004

chr11:
97904220-97904227

AGAAGACT

A

intergenic

De novo

-

Yuen2017 G

CNTN5

AU045514

chr11:
100117705-100117705

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

2-0273-003

chr11:
100032307-100032318

AACTGACTTCAC

A

intronic

De novo

-

Yuen2017 G

CNTN5

5-0055-003

chr11:
96851511-96851511

G

T

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1526-003

chr11:
99671348-99671348

T

A

intronic

De novo

-

Yuen2017 G

CNTN5

1-0640-003

chr11:
99921527-99921527

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

2-1526-003

chr11:
99257615-99257615

T

G

intronic

De novo

-

Yuen2017 G

CNTN5

AU005214

chr11:
97140641-97140641

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1526-003

chr11:
96814276-96814276

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0511-003

chr11:
99638025-99638042

CAGAGAGAGAGAGAGAGA

CAGAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

CNTN5

1-0914-003

chr11:
99628930-99628930

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

2-0012-004

chr11:
98012892-98012892

A

G

intergenic

De novo

-

Yuen2017 G

CNTN5

AU4473301

chr11:
99055460-99055460

T

G

intronic

De novo

-

Yuen2017 G

CNTN5

2-1594-003

chr11:
98014856-98014856

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

7-0248-003

chr11:
100279209-100279209

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

AU060803

chr11:
99367301-99367301

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

AU4186302

chr11:
99471825-99471825

G

A

intronic

De novo

-

Yuen2017 G

CNTN5

5-0030-003

chr11:
97121941-97121941

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

AU1355301

chr11:
99488888-99488888

C

A

intronic

De novo

-

Yuen2017 G

CNTN5

1-0563-004

chr11:
98944180-98944180

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

Cukier2014:17342

chr11:
100168410-100168410

T

A

exonic

Unknown

nonsynonymous SNV

NM_175566
NM_001243270
NM_001243271
NM_014361

c.T2146A
c.T2368A
c.T2368A
c.T2368A

p.L716I
p.L790I
p.L790I
p.L790I

13.98

0.0097

Cukier2014 E

CNTN5

1-0162-004

chr11:
98049321-98049336

ACAGTCCTCTCTATAC

A

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0162-004

chr11:
96998720-96998720

G

GATT

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0200-004

chr11:
98063798-98063798

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1567-004

chr11:
100231928-100231928

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

5-0138-003

chr11:
100116013-100116013

C

A

intronic

De novo

-

Yuen2017 G

CNTN5

1-0162-004

chr11:
99679333-99679333

T

A

intronic

De novo

-

Yuen2017 G

CNTN5

2-0068-003

chr11:
99051651-99051651

C

A

intronic

De novo

-

Yuen2017 G

CNTN5

AU4243302

chr11:
98955830-98955830

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

5-0073-003

chr11:
97998470-97998470

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

5-0131-003

chr11:
100457458-100457458

A

C

intergenic

De novo

-

Yuen2017 G

CNTN5

AU2410301

chr11:
99084133-99084143

ACACATATATG

A

intronic

De novo

-

Yuen2017 G

CNTN5

1-0394-003

chr11:
99946665-99946665

C

G

intronic

De novo

-

Yuen2017 G

CNTN5

2-0068-003

chr11:
99814428-99814428

G

GAGTT

intronic

De novo

-

Yuen2017 G

CNTN5

1-0186-005

chr11:
97902282-97902282

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0820-003

chr11:
99771697-99771697

G

A

intronic

De novo

-

Yuen2017 G

CNTN5

AU066206

chr11:
97827364-97827364

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

AU066206

chr11:
97866637-97866637

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

AU066206

chr11:
100033978-100033978

G

A

intronic

De novo

-

Yuen2017 G

CNTN5

AU2793303

chr11:
97965915-97965915

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0479-006

chr11:
99744835-99744835

G

A

intronic

De novo

-

Yuen2017 G

CNTN5

2-0022-005

chr11:
100277839-100277839

G

C

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1475-003

chr11:
99986774-99986774

C

T

intronic

De novo

-

Yuen2017 G

CNTN5

1-0636-003

chr11:
99826421-99826421

G

C

intronic

De novo

-

Yuen2017 G

CNTN5

AU4426303

chr11:
99516920-99516920

C

G

intronic

De novo

-

Yuen2017 G

CNTN5

2-0149-004

chr11:
97311274-97311274

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

11089.p1

chr11:
98248213-98248213

G

T

intergenic

De novo

-

Turner2016 G

CNTN5

AU1940304

chr11:
99583818-99583818

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

13539.p1

chr11:
98250616-98250616

C

T

intergenic

De novo

-

Turner2016 G

CNTN5

1-0466-003

chr11:
97380873-97380873

G

C

intergenic

De novo

-

Yuen2017 G

CNTN5

14153.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

CNTN5

13023.p1

chr11:
98898914-98898914

T

C

intronic

De novo

-

Turner2016 G

CNTN5

12793.p1

chr11:
98256949-98256949

G

A

intergenic

De novo

-

Turner2016 G

CNTN5

1-0253-005

chr11:
100443505-100443505

A

G

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1362-003

chr11:
99013701-99013701

T

A

intronic

De novo

-

Yuen2017 G

CNTN5

11572.p1

chr11:
99374703-99374703

T

C

intronic

De novo

-

Turner2016 G

CNTN5

1-0259-005

chr11:
98025433-98025443

GTACGTATGGA

G

intergenic

De novo

-

Yuen2017 G

CNTN5

14482.p1

chr11:
99093084-99093084

G

C

intronic

De novo

-

Turner2016 G

CNTN5

AU4164301

chr11:
98933070-98933070

T

G

intronic

De novo

-

Yuen2017 G

CNTN5

13543.p1

chr11:
99280196-99280196

C

T

intronic

De novo

-

Turner2016 G

CNTN5

7-0130-003

chr11:
99814428-99814428

G

GAGTT

intronic

De novo

-

Yuen2017 G

CNTN5

1-0554-003

chr11:
97229035-97229035

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3716302

chr11:
98272923-98272923

C

G

intergenic

De novo

-

Yuen2017 G

CNTN5

3-0436-000

chr11:
96827411-96827425

CCTCTCTCTCTCTCT

CCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0191-004

chr11:
98932654-98932654

C

T

intronic

De novo

-

Yuen2017 G

CNTN5

1-0148-005

chr11:
99078802-99078802

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

2-0098-003

chr11:
100287887-100287887

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTN5

2-1276-003

chr11:
98056073-98056073

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTN5

2-1644-003

chr11:
98996482-98996482

C

G

intronic

De novo

-

Yuen2017 G

CNTN5

2-1272-003

chr11:
97752773-97752773

G

A

intergenic

De novo

-

Yuen2016 G

CNTN5

7-0242-003

chr11:
100472341-100472341

A

G

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3768302

chr11:
99123619-99123619

G

T

intronic

De novo

-

Yuen2017 G

CNTN5

AU2109301

chr11:
96941973-96941973

A

G

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1295-003

chr11:
97783322-97783322

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTN5

2-1189-003

chr11:
97150744-97150744

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTN5

7-0008-003

chr11:
96900252-96900252

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

AU4235303

chr11:
100231187-100231187

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

5-0087-003

chr11:
97112177-97112179

TTA

TTATA

intergenic

De novo

-

Yuen2017 G

CNTN5

AU4013302

chr11:
99316676-99316676

G

A

intronic

De novo

-

Yuen2017 G

CNTN5

AU4015302

chr11:
100424293-100424293

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

1-1000-003

chr11:
97643658-97643658

T

A

intergenic

De novo

-

Yuen2017 G

CNTN5

2-0295-003

chr11:
97052042-97052042

C

G

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0552-003

chr11:
100153638-100153638

G

A

intronic

De novo

-

Yuen2017 G

CNTN5

AU3634301

chr11:
97976792-97976792

G

T

intergenic

De novo

-

Yuen2017 G

CNTN5

AU2000304

chr11:
98207885-98207885

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1297-003

chr11:
99439872-99439872

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

2-1330-003

chr11:
99815228-99815228

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CNTN5

3-0437-000

chr11:
99360317-99360317

A

C

intronic

De novo

-

Yuen2016 G

CNTN5

AU2437302

chr11:
100136664-100136664

G

A

intronic

De novo

-

Yuen2017 G

CNTN5

2-1166-003

chr11:
100252274-100252274

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTN5

AU2525302

chr11:
99071233-99071239

AAATAAT

AAAT

intronic

De novo

-

Yuen2017 G

CNTN5

3-0482-000

chr11:
99293521-99293521

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

AU3862305

chr11:
98261632-98261632

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0382-004

chr11:
98257773-98257773

C

A

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3905301

chr11:
97471431-97471431

A

T

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1460-003

chr11:
99804708-99804708

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

A32

chr11:
97345247-97345247

C

T

intergenic

De novo

-

Wu2018 G

CNTN5

2-1736-003

chr11:
97029326-97029326

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

AU059903

chr11:
97857829-97857829

A

G

intergenic

De novo

-

Yuen2017 G

CNTN5

2-0127-004

chr11:
97214914-97214917

AGAT

A

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1689-003

chr11:
99734266-99734270

CTGTG

CTG

intronic

De novo

-

Yuen2017 G

CNTN5

AU3761302

chr11:
99684785-99684785

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

1-0112-004

chr11:
97351138-97351138

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1132-003

chr11:
98190904-98190904

T

G

intergenic

De novo

-

Yuen2017 G

CNTN5

AU076808

chr11:
99615108-99615108

G

A

intronic

De novo

-

Yuen2017 G

CNTN5

2-1422-003

chr11:
96919886-96919886

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTN5

AU3801301

chr11:
97799535-97799535

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1363-003

chr11:
97430858-97430858

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

AU4089301

chr11:
98061627-98061627

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

2-0310-003

chr11:
97547876-97547876

A

G

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1066-003

chr11:
97530369-97530369

A

T

intergenic

De novo

-

Yuen2017 G

CNTN5

7-0247-003

chr11:
98995976-98995976

A

G

intronic

De novo

-

Yuen2017 G

CNTN5

1-0180-004

chr11:
99877749-99877749

T

A

intronic

De novo

-

Yuen2017 G

CNTN5

2-1567-003

chr11:
99261930-99261930

G

T

intronic

De novo

-

Yuen2017 G

CNTN5

AU4168306

chr11:
96867179-96867179

G

A

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0534-004

chr11:
99112051-99112051

T

TG

intronic

De novo

-

Yuen2017 G

CNTN5

AU4013303

chr11:
97120117-97120117

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3911302

chr11:
97999161-97999161

T

C

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3190305

chr11:
97216851-97216859

ATATTCTAT

ATATTCTATTCTAT

intergenic

De novo

-

Yuen2017 G

CNTN5

AU3190305

chr11:
99607434-99607434

C

T

intronic

De novo

-

Yuen2017 G

CNTN5

2-0244-004

chr11:
99051657-99051657

T

C

intronic

De novo

-

Yuen2017 G

CNTN5

AU4479301

chr11:
100394042-100394042

C

T

intergenic

De novo

-

Yuen2017 G

CNTN5

1-0885-003

chr11:
99403681-99403681

C

T

intronic

De novo

-

Yuen2017 G

CNTN5

1-0826-004

chr11:
97065402-97065402

T

A

intergenic

De novo

-

Yuen2017 G

CNTN5

2-1715-003

chr11:
100056668-100056668

G

GTAATC

intronic

De novo

-

Yuen2017 G

CNTN5

2-1297-004

chr11:
97523726-97523726

T

C

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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