Variant Results

or

Results for "NAALADL2"

Variant Events: 94

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

NAALADL2

1-0683-004

chr3:
174767939-174767939

G

C

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1290-003

chr3:
176143318-176143318

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

AU3399303

chr3:
175340517-175340517

T

G

intronic

De novo

-

Yuen2017 G

NAALADL2

AU3905302

chr3:
175212973-175212973

C

A

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1134-003

chr3:
176077323-176077323

C

G

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1134-003

chr3:
174944880-174944880

G

A

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0914-003

chr3:
174690678-174690678

C

T

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1244-003

chr3:
175373700-175373700

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NAALADL2

2-1362-004

chr3:
176168670-176168670

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1163-003

chr3:
175407530-175407530

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NAALADL2

2-0296-003

chr3:
174795522-174795522

G

C

intronic

De novo

-

Yuen2017 G

NAALADL2

7-0191-003

chr3:
175108106-175108106

T

A

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1361-003

chr3:
175322243-175322243

C

G

intronic

De novo

-

Yuen2017 G

NAALADL2

AU4273304

chr3:
175748113-175748113

T

G

intergenic

De novo

-

Yuen2017 G

NAALADL2

AU3881302

chr3:
175266088-175266088

A

G

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0936-003

chr3:
175062955-175062960

CAGTTA

CAGTTAGTTA

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0024-003

chr3:
175974417-175974417

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NAALADL2

2-1189-003

chr3:
175020911-175020911

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NAALADL2

AU3903302

chr3:
176130194-176130194

C

T

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0125-003

chr3:
175371495-175371501

CTTTTTT

CTTTTT

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0112-004

chr3:
175048690-175048690

T

C

intronic

De novo

-

Yuen2017 G

NAALADL2

2-0003-003

chr3:
175596550-175596552

CAT

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

Viggiano2022:22.4

chr3:
174814885-174814885

A

G

exonic

Paternal

nonsynonymous SNV

NM_207015

c.A349G

p.S117G

10.69

8.293E-6

Viggiano2022 GT

NAALADL2

1-0595-005

chr3:
176143370-176143370

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

Viggiano2022:22.3

chr3:
174814885-174814885

A

G

exonic

Paternal

nonsynonymous SNV

NM_207015

c.A349G

p.S117G

10.69

8.293E-6

Viggiano2022 GT

NAALADL2

2-1317-003

chr3:
175233348-175233348

G

A

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1317-003

chr3:
175232717-175232717

C

A

intronic

De novo

-

Yuen2017 G

NAALADL2

AU2787302

chr3:
175397487-175397487

G

A

intronic

De novo

-

Yuen2017 G

NAALADL2

AU3849302

chr3:
174945631-174945631

C

T

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1567-003

chr3:
175980512-175980512

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0547-003

chr3:
175522565-175522565

T

G

UTR3

De novo

-

Yuen2017 G

NAALADL2

1-0203-003

chr3:
175059724-175059724

C

G

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0973-003

chr3:
175870895-175870895

A

G

intergenic

De novo

-

Yuen2017 G

NAALADL2

AU4067301

chr3:
175977081-175977081

A

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

AU072904

chr3:
174838719-174838719

C

T

intronic

De novo

-

Yuen2017 G

NAALADL2

AU3874303

chr3:
175022072-175022072

A

C

intronic

De novo

-

Yuen2017 G

NAALADL2

5-0003-003

chr3:
174742350-174742350

G

C

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1383-003

chr3:
175903526-175903534

ACAGTCAGT

ACAGT

intergenic

De novo

-

Yuen2017 G

NAALADL2

5-0015-004

chr3:
175687845-175687845

T

G

intergenic

De novo

-

Yuen2017 G

NAALADL2

12460.p1

chr3:
175033923-175033923

A

C

intronic

De novo

-

Werling2018 G

NAALADL2

1-0171-005

chr3:
175833317-175833317

G

A

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1456-003

chr3:
176143220-176143220

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0171-005

chr3:
175572066-175572066

C

T

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-0012-003

chr3:
175095511-175095511

G

A

intronic

De novo

-

Yuen2017 G

NAALADL2

74-0355

chr3:
174935513-174935513

G

A

intronic

De novo

-

Michaelson2012 G

NAALADL2

2-1242-003

chr3:
174757774-174757774

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NAALADL2

AU072505

chr3:
174594952-174594952

G

C

intronic

De novo

-

Yuen2017 G

NAALADL2

AU3635301

chr3:
175959649-175959649

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0295-003

chr3:
174709272-174709278

GATATAT

GATAT

intronic

De novo

-

Yuen2017 G

NAALADL2

AU1742302

chr3:
174743828-174743828

T

C

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0153-005

chr3:
175007567-175007571

TAGAG

T

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0455-003

chr3:
174794263-174794263

C

T

intronic

De novo

-

Yuen2017 G

NAALADL2

AU071203

chr3:
174734968-174734968

T

C

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1137-003

chr3:
175739327-175739327

G

A

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0632-003

chr3:
175933490-175933490

G

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

7-0130-003

chr3:
175585914-175585916

CTA

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-0242-003

chr3:
174789011-174789011

C

T

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0191-003

chr3:
176143370-176143370

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1167-003

chr3:
175166595-175166595

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NAALADL2

2-1086-004

chr3:
175614313-175614313

A

G

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0652-003

chr3:
176092891-176092891

C

T

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1215-003

chr3:
175508970-175508970

G

C

intronic

De novo

-

Yuen2017 G

NAALADL2

AU4056302

chr3:
175566214-175566214

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

SP0080381

chr3:
175345086-175345086

G

A

exonic

De novo

nonsynonymous SNV

NM_207015

c.G1808A

p.S603N

13.85

-

Fu2022 E

NAALADL2

2-1373-003

chr3:
176012154-176012154

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NAALADL2

AU2333302

chr3:
175448492-175448492

A

G

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1497-003

chr3:
175054741-175054741

G

A

intronic

De novo

-

Yuen2017 G

NAALADL2

SP0115411

chr3:
175165085-175165085

G

A

exonic

De novo

nonsynonymous SNV

NM_207015

c.G1159A

p.V387I

4.693

4.872E-5

Fu2022 E

NAALADL2

AU4006302

chr3:
175434378-175434378

T

C

intronic

De novo

-

Yuen2017 G

NAALADL2

AU0452304

chr3:
176155981-176155983

TCC

TC

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0324-003

chr3:
175438515-175438515

C

T

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0286-004

chr3:
175206069-175206069

C

G

intronic

De novo

-

Yuen2017 G

NAALADL2

AU3997302

chr3:
174712652-174712652

T

C

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1223-003

chr3:
175756438-175756438

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1391-004

chr3:
175570335-175570338

TACC

T

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1222-003

chr3:
176006157-176006157

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NAALADL2

7-0024-003

chr3:
176143318-176143318

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0412-003

chr3:
176143382-176143382

G

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1176-003

chr3:
176045148-176045148

G

A

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0402-004

chr3:
174584261-174584261

A

G

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1176-003

chr3:
175541631-175541631

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-1277-003

chr3:
174747389-174747389

A

T

intronic

De novo

-

Yuen2017 G

NAALADL2

13298.p1

chr3:
175234916-175234916

T

C

intronic

De novo

-

Turner2016 G

NAALADL2

2-1251-003

chr3:
175329649-175329649

C

T

intronic

De novo

-

Yuen2017 G

NAALADL2

AU072004

chr3:
175959102-175959102

A

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

2-0238-003

chr3:
174597797-174597797

T

A

intronic

De novo

-

Yuen2017 G

NAALADL2

1-0196-005

chr3:
174877440-174877440

A

G

intronic

De novo

-

Yuen2017 G

NAALADL2

2-1089-004

chr3:
176143394-176143394

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

1-0201-004

chr3:
174656371-174656371

G

C

intronic

De novo

-

Yuen2017 G

NAALADL2

12795.p1

chr3:
175306471-175306471

T

C

intronic

De novo

-

Turner2016 G

NAALADL2

2-0135-003

chr3:
176143318-176143318

T

C

intergenic

De novo

-

Yuen2017 G

NAALADL2

AU2437302

chr3:
175521182-175521182

T

A

UTR3

De novo

-

Yuen2017 G

NAALADL2

12795.p1

chr3:
175306475-175306475

T

C

intronic

De novo

-

Turner2016 G

NAALADL2

2-0070-003

chr3:
175245689-175245689

A

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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