Variant Results

or

Results for "NUDT12"

Variant Events: 67

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

NUDT12

AU045514

chr5:
103164603-103164603

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

7-0273-003

chr5:
102980011-102980011

C

G

intergenic

De novo

-

Yuen2017 G

NUDT12

5-0014-004

chr5:
104076349-104076349

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0597-003

chr5:
104329734-104329734

C

G

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1329-003

chr5:
103714290-103714290

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NUDT12

AU2293302

chr5:
104431806-104431806

T

C

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0282-003

chr5:
103663959-103663978

GTTTATTGTGGAGTTCATGC

G

intergenic

De novo

-

Yuen2017 G

NUDT12

AU0540301

chr5:
103461573-103461573

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

AU2950301

chr5:
104346886-104346886

A

G

intergenic

De novo

-

Yuen2017 G

NUDT12

AU2988302

chr5:
104264707-104264707

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

AU4089302

chr5:
103246987-103246987

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

2-0145-004

chr5:
104296513-104296513

A

T

intergenic

De novo

-

Yuen2017 G

NUDT12

2-0323-004

chr5:
103178612-103178612

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

AU4173301

chr5:
103267631-103267636

AATGAT

AAT

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1619-003

chr5:
103284921-103284926

ATGTAT

A

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1308-003

chr5:
104179763-104179763

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NUDT12

AU4412302

chr5:
103574941-103574941

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

AU1988301

chr5:
103974479-103974479

A

G

intergenic

De novo

-

Yuen2017 G

NUDT12

AU071804

chr5:
103036964-103036978

AAGAGAGAGAGAGAG

AAGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

NUDT12

AU058103

chr5:
103631614-103631614

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

AU3605303

chr5:
103739452-103739452

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0330-003

chr5:
103505574-103505574

T

A

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0233-004

chr5:
103907870-103907870

G

T

intergenic

De novo

-

Yuen2017 G

NUDT12

AU038204

chr5:
104252293-104252293

T

C

intergenic

De novo

-

Yuen2017 G

NUDT12

AU057404

chr5:
103705954-103705954

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

AU076808

chr5:
103098881-103098881

T

C

intergenic

De novo

-

Yuen2017 G

NUDT12

AU017304

chr5:
104205972-104205972

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0044-003

chr5:
104064553-104064553

T

C

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1361-003

chr5:
103184028-103184028

G

A

intergenic

De novo

-

Yuen2016 G

NUDT12

3-0436-000

chr5:
103472483-103472483

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NUDT12

2-0063-003

chr5:
103215435-103215435

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

A30

chr5:
102955738-102955738

C

T

intergenic

De novo

-

Wu2018 G

NUDT12

2-1295-003

chr5:
103351370-103351371

CA

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NUDT12

1-0277-003

chr5:
104129174-104129174

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NUDT12

2-1246-003

chr5:
103587409-103587414

TTTTCA

T

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1357-004

chr5:
103605871-103605871

T

A

intergenic

De novo

-

Yuen2017 G

NUDT12

AU2951303

chr5:
103821813-103821813

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

AU2988303

chr5:
104264707-104264707

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1522-003

chr5:
103993027-103993027

C

G

intergenic

De novo

-

Yuen2017 G

NUDT12

7-0012-003

chr5:
104391578-104391578

C

A

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0701-003

chr5:
103110443-103110443

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

14223.p1

chr5:
102890586-102890586

G

A

intronic

De novo

-

Satterstrom2020 E

NUDT12

AU2458302

chr5:
103538523-103538523

A

G

intergenic

De novo

-

Yuen2017 G

NUDT12

2-0002-005

chr5:
103475574-103475574

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

AU2951302

chr5:
103821813-103821813

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

AU3891303

chr5:
103705708-103705708

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0246-005

chr5:
103767602-103767602

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

AU3727302

chr5:
103287470-103287470

T

G

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0359-003

chr5:
104100956-104100956

T

C

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0526-003

chr5:
103294513-103294513

G

GAT

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0022-004

chr5:
103415133-103415133

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0079-008

chr5:
103099850-103099850

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

AU066818

chr5:
104282976-104282976

C

A

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1267-003

chr5:
103781737-103781737

C

CTAT

intergenic

De novo

-

Yuen2017 G

NUDT12

7-0148-003

chr5:
103073859-103073859

G

A

intergenic

De novo

-

Yuen2017 G

NUDT12

2-0289-003

chr5:
104379414-104379414

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

2-0244-003

chr5:
103203994-103203994

G

C

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1005-003

chr5:
103284872-103284872

A

T

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1153-003

chr5:
104275935-104275935

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NUDT12

AU1995302

chr5:
104338727-104338727

C

G

intergenic

De novo

-

Yuen2017 G

NUDT12

1-0552-003

chr5:
103375992-103375992

A

C

intergenic

De novo

-

Yuen2017 G

NUDT12

2-1353-003

chr5:
103130478-103130478

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NUDT12

1-0593-003

chr5:
104349333-104349333

C

T

intergenic

De novo

-

Yuen2017 G

NUDT12

SP0105000

chr5:
102894802-102894802

C

T

exonic

De novo

nonsynonymous SNV

NM_001300741
NM_031438

c.G520A
c.G574A

p.E174K
p.E192K

15.82

-

Fu2022 E

NUDT12

AU3865301

chr5:
104211875-104211875

T

C

intergenic

De novo

-

Yuen2017 G

NUDT12

AU3997302

chr5:
103295428-103295437

AGATCTGTGA

AGA

intergenic

De novo

-

Yuen2017 G

NUDT12

AU058104

chr5:
103846155-103846155

G

A

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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