Variant Results

or

Results for "NTM"

Variant Events: 69

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

NTM

2-1163-003

chr11:
131283350-131283350

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NTM

2-1529-003

chr11:
131753802-131753802

C

T

intronic

De novo

-

Yuen2017 G

NTM

2-0214-003

chr11:
131790875-131790876

TA

T

intronic

De novo

-

Yuen2017 G

NTM

AU3175303

chr11:
131357971-131357972

TA

TAA

intronic

De novo

-

Yuen2017 G

NTM

A21

chr11:
131947891-131947891

A

C

intronic

De novo

-

Wu2018 G

NTM

AU3951301

chr11:
132047970-132047970

T

C

intronic

De novo

-

Yuen2017 G

NTM

1-0051-005

chr11:
131303042-131303042

C

CGCCCG

intronic

De novo

-

Yuen2017 G

NTM

5-0040-003

chr11:
132200673-132200673

C

A

intronic

De novo

-

Yuen2017 G

NTM

A11

chr11:
131513296-131513296

C

T

intronic

De novo

-

Wu2018 G

NTM

2-1152-003

chr11:
132229500-132229500

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NTM

1-0441-003

chr11:
132095336-132095336

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NTM

1-0541-003

chr11:
131352365-131352365

T

G

intronic

De novo

-

Yuen2017 G

NTM

3-0456-000

chr11:
131719340-131719353

CGAGAGAGAGAGAG

CGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

NTM

AU2129301

chr11:
131284612-131284612

G

A

intronic

De novo

-

Yuen2017 G

NTM

AU2410302

chr11:
131813876-131813876

T

C

intronic

De novo

-

Yuen2017 G

NTM

AU4159302

chr11:
131451689-131451689

G

A

intronic

De novo

-

Yuen2017 G

NTM

11002.p1

chr11:
131605413-131605413

G

A

intronic

De novo

-

Turner2016 G

NTM

1-0403-004

chr11:
131803466-131803466

C

G

intronic

De novo

-

Yuen2017 G

NTM

1-0465-003a

chr11:
131898655-131898655

A

G

intronic

De novo

-

Yuen2017 G

NTM

1-0763-004

chr11:
132032529-132032529

G

T

intronic

De novo

-

Yuen2017 G

NTM

2-1086-003

chr11:
131995612-131995612

G

GT

intronic

De novo

-

Yuen2017 G

NTM

AU4099301

chr11:
131854785-131854785

G

A

intronic

De novo

-

Yuen2017 G

NTM

14621.p1

chr11:
131475780-131475780

T

G

intronic

De novo

-

Wilfert2021 G

NTM

AU3634301

chr11:
131684551-131684551

G

A

intronic

De novo

-

Yuen2017 G

NTM

2-1176-003

chr11:
132036797-132036797

A

T

intronic

De novo

-

Yuen2017 G

NTM

1-0049-004

chr11:
131552741-131552753

GCAGCCGCTGTTT

G

intronic

De novo

-

Yuen2017 G

NTM

2-1176-003

chr11:
131751103-131751103

A

G

intronic

De novo

-

Yuen2017 G

NTM

3-0080-000

chr11:
131784625-131784625

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NTM

AU038703

chr11:
131604885-131604885

C

T

intronic

De novo

-

Yuen2017 G

NTM

2-0012-004

chr11:
131995600-131995600

T

TAA

intronic

De novo

-

Yuen2017 G

NTM

12321.p1

chr11:
131373318-131373318

G

A

intronic

De novo

-

Werling2018 G

NTM

AU071804

chr11:
131959026-131959026

G

A

intronic

De novo

-

Yuen2017 G

NTM

1-0320-004

chr11:
131735696-131735696

A

ACACACT

intronic

De novo

-

Yuen2017 G

NTM

2-1525-003

chr11:
131289560-131289560

T

C

intronic

De novo

-

Yuen2017 G

NTM

5-0025-003

chr11:
132184329-132184332

TATA

T

intronic

De novo

-

Yuen2017 G

NTM

AU034904

chr11:
131416223-131416223

G

A

intronic

De novo

-

Yuen2017 G

NTM

2-1296-003

chr11:
131804403-131804403

T

A

intronic

De novo

-

Yuen2017 G

NTM

5-0050-004

chr11:
131943025-131943025

A

T

intronic

De novo

-

Yuen2017 G

NTM

2-1525-003

chr11:
132205331-132205331

G

A

UTR3

De novo

-

Yuen2017 G

NTM

AU076508

chr11:
131730884-131730884

C

T

intronic

De novo

-

Yuen2017 G

NTM

AU051503

chr11:
131254058-131254058

A

G

intronic

De novo

-

Yuen2017 G

NTM

2-0256-004

chr11:
131528450-131528450

C

T

intronic

De novo

-

Yuen2017 G

NTM

2-1358-003

chr11:
131697127-131697127

C

T

intronic

De novo

-

Yuen2017 G

NTM

1-0495-003

chr11:
131705554-131705554

C

T

intronic

De novo

-

Yuen2017 G

NTM

AU073005

chr11:
132241265-132241265

C

T

intergenic

De novo

-

Yuen2017 G

NTM

1-0465-003

chr11:
131898655-131898655

A

G

intronic

De novo

-

Yuen2017 G

NTM

2-1506-003

chr11:
132165037-132165052

AACACACACACACACA

AACACACACACACA

intronic

De novo

-

Yuen2017 G

NTM

AU003405

chr11:
131550290-131550296

TGTGCGT

TGT

intronic

De novo

-

Yuen2017 G

NTM

217-14304-3540

chr11:
132177671-132177672

TG

G

exonic

Maternal

frameshift deletion

NM_001144058
NM_001144059
NM_016522
NM_001048209

c.615delT
c.615delT
c.615delT
c.615delT

p.N205fs
p.N205fs
p.N205fs
p.N205fs

-

Stessman2017 T

NTM

2-0142-003

chr11:
131437632-131437632

C

T

intronic

De novo

-

Yuen2017 G

NTM

1-0497-003

chr11:
131509775-131509775

G

A

intronic

De novo

-

Yuen2017 G

NTM

AU079104

chr11:
131983951-131983951

A

G

intronic

De novo

-

Yuen2017 G

NTM

AU3912303

chr11:
131298410-131298410

C

T

intronic

De novo

-

Yuen2017 G

NTM

AU4093304

chr11:
132189292-132189292

G

A

intronic

De novo

-

Yuen2017 G

NTM

AU1860302

chr11:
132165015-132165022

CTCTGTCT

CTCT

intronic

De novo

-

Yuen2017 G

NTM

SP0029600

chr11:
132184896-132184896

A

G

UTR3

De novo

-

Fu2022 E

NTM

2-1359-004

chr11:
131735696-131735696

A

ACACACT

intronic

De novo

-

Yuen2017 G

NTM

2-1365-003

chr11:
131720535-131720535

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NTM

2-0223-003

chr11:
131867210-131867210

C

A

intronic

De novo

-

Yuen2017 G

NTM

3-0447-000

chr11:
131698316-131698316

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NTM

2-0210-004

chr11:
131433603-131433603

A

C

intronic

De novo

-

Yuen2017 G

NTM

1-0482-003

chr11:
131420608-131420608

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NTM

A23

chr11:
131648218-131648218

T

G

intronic

De novo

-

Wu2018 G

NTM

AU4197302

chr11:
131605956-131605956

G

C

intronic

De novo

-

Yuen2017 G

NTM

2-0304-003

chr11:
132079641-132079641

C

T

intronic

De novo

-

Yuen2017 G

NTM

AU3605304

chr11:
131969927-131969927

C

T

intronic

De novo

-

Yuen2017 G

NTM

2-0304-003

chr11:
132075074-132075074

C

T

intronic

De novo

-

Yuen2017 G

NTM

1-0206-004

chr11:
132008644-132008644

A

C

intronic

De novo

-

Yuen2017 G

NTM

2-1207-003

chr11:
131450712-131450712

G

T

intronic

De novo

-

Yuen2016 G
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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