Variant Results

or

Results for "DMD"

Variant Events: 100

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

DMD

2-0109-003

chrX:
32658186-32658186

T

A

intronic

De novo

-

Yuen2017 G

DMD

AU2458302

chrX:
32270984-32271003

TAAATATATAAAAATATATA

TAAATATATA

intronic

De novo

-

Yuen2017 G

DMD

1-0520-003

chrX:
33028183-33028195

ATACACAAATGTG

A

intronic

De novo

-

Yuen2017 G

DMD

AU002406

chrX:
34118898-34118898

G

A

intergenic

De novo

-

Yuen2017 G

DMD

AU2495301

chrX:
31398563-31398563

C

T

intronic

De novo

-

Yuen2017 G

DMD

SP0025437

chrX:
32632434-32632434

C

T

exonic

Mosaic

nonsynonymous SNV

NM_000109
NM_004006
NM_004009
NM_004010

c.G1444A
c.G1468A
c.G1456A
c.G1099A

p.V482I
p.V490I
p.V486I
p.V367I

3.637

-

Feliciano2019 E

DMD

AU3586303

chrX:
32354194-32354196

CAT

C

intronic

De novo

-

Yuen2017 G

DMD

AU038203

chrX:
32657426-32657426

A

T

intronic

De novo

-

Yuen2017 G

DMD

AU3881301

chrX:
33745922-33745922

C

T

intergenic

De novo

-

Yuen2017 G

DMD

2-1305-003

chrX:
33027633-33027638

ATATGT

AT

intronic

De novo

-

Yuen2017 G

DMD

2-1380-003

chrX:
33149978-33149978

G

C

intronic

De novo

-

Yuen2017 G

DMD

PN400538

chrX:
32407727-32407727

C

T

exonic

Unknown

nonsynonymous SNV

NM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010

c.G386A
c.G377A
c.G4385A
c.G4409A
c.G4397A
c.G4040A

p.R129H
p.R126H
p.R1462H
p.R1470H
p.R1466H
p.R1347H

33.0

-

Leblond2019 E

DMD

1-0772-003

chrX:
33406690-33406700

GTTTTTTTTTT

GTTTTTTTTTTT

intergenic

De novo

-

Yuen2017 G

DMD

2-1242-003

chrX:
33937166-33937169

CTTT

CT

intergenic

De novo

-

Yuen2017 G

DMD

3-0428-000

chrX:
32594048-32594048

A

G

intronic

De novo

-

Yuen2017 G

DMD

2-1107-003

chrX:
32786669-32786669

T

G

intronic

De novo

-

Yuen2017 G

DMD

AU2381302

chrX:
31638123-31638123

T

C

intronic

De novo

-

Yuen2017 G

DMD

1-0553-003

chrX:
32406880-32406880

C

T

intronic

De novo

-

Yuen2017 G

DMD

1-0606-003

chrX:
31139549-31139568

GTGTGTGTGTATGTGTGTGT

GTGTGTGTGT

UTR3

De novo

-

Yuen2017 G

DMD

13062.p1

chrX:
32383221-32383221

C

T

exonic

Mosaic

synonymous SNV

NM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010

c.G918A
c.G909A
c.G4917A
c.G4941A
c.G4929A
c.G4572A

p.T306T
p.T303T
p.T1639T
p.T1647T
p.T1643T
p.T1524T

-

3.427E-5

Dou2017 E
Krupp2017 E

DMD

1-0553-003

chrX:
31827973-31827973

G

T

intronic

De novo

-

Yuen2017 G

DMD

1-0225-003

chrX:
32801252-32801264

GTATATATATATA

GTATATATATATATA

intronic

De novo

-

Yuen2017 G

DMD

AU4007301

chrX:
33383600-33383601

AT

A

intergenic

De novo

-

Yuen2017 G

DMD

1-0487-003

chrX:
33396646-33396646

C

A

intergenic

De novo

-

Yuen2017 G

DMD

1-0871-003

chrX:
32353959-32353962

ATAT

ATATGTAT

intronic

De novo

-

Yuen2017 G

DMD

2-1330-003

chrX:
32364157-32364157

C

A

exonic

Inherited

nonsynonymous SNV

NM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010

c.G1466T
c.G1457T
c.G5465T
c.G5489T
c.G5477T
c.G5120T

p.R489I
p.R486I
p.R1822I
p.R1830I
p.R1826I
p.R1707I

20.5

3.503E-5

Jiang2013 G

DMD

5-0114-003

chrX:
32470525-32470534

AGGGAAAGGG

AGG

intronic

De novo

-

Yuen2017 G

DMD

AU4433301

chrX:
33937166-33937169

CTTT

CT

intergenic

De novo

-

Yuen2017 G

DMD

AU3760302

chrX:
33507961-33507961

C

A

intergenic

De novo

-

Yuen2017 G

DMD

AU3912301

chrX:
32470525-32470528

AGGG

AGG

intronic

De novo

-

Yuen2017 G

DMD

14621.p1

chrX:
33724214-33724214

G

GT

intergenic

De novo

-

Wilfert2021 G

DMD

AU3763305

chrX:
34119722-34119727

AAACAA

AAA

intergenic

De novo

-

Yuen2017 G

DMD

AU051503

chrX:
33220376-33220376

C

T

intronic

De novo

-

Yuen2017 G

DMD

AU4154303

chrX:
32094195-32094208

AAAAAAAAAAGAGA

AA

intronic

De novo

-

Yuen2017 G

DMD

1-0150-004

chrX:
33367607-33367607

G

GTGTGTGTGTGTATATGTA

intergenic

De novo

-

Yuen2017 G

DMD

1-0150-004

chrX:
32696490-32696490

A

G

intronic

De novo

-

Yuen2017 G

DMD

A11

chrX:
33648990-33648991

GT

G

intergenic

De novo

-

Wu2018 G

DMD

PN400540

chrX:
32407727-32407727

C

T

exonic

Unknown

nonsynonymous SNV

NM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010

c.G386A
c.G377A
c.G4385A
c.G4409A
c.G4397A
c.G4040A

p.R129H
p.R126H
p.R1462H
p.R1470H
p.R1466H
p.R1347H

33.0

-

Leblond2019 E

DMD

AU3794301

chrX:
33522429-33522432

GAAA

GAAAGAAAAA

intergenic

De novo

-

Yuen2017 G

DMD

2-1549-003

chrX:
32824452-32824455

AACA

AA

intronic

De novo

-

Yuen2017 G

DMD

AU3698301

chrX:
31139351-31139362

CATATAGATATA

CATATA

UTR3

De novo

-

Yuen2017 G

DMD

1-0394-003

chrX:
31431154-31431154

C

T

intronic

De novo

-

Yuen2017 G

DMD

Codina-Sola2015:ASD_30

chrX:
31697642-31697642

C

G

exonic

Maternal

nonsynonymous SNV

NM_004013
NM_004020
NM_004021
NM_004022
NM_004023
NM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010

c.G342C
c.G342C
c.G342C
c.G342C
c.G342C
c.G3699C
c.G3690C
c.G7698C
c.G7722C
c.G7710C
c.G7353C

p.Q114H
p.Q114H
p.Q114H
p.Q114H
p.Q114H
p.Q1233H
p.Q1230H
p.Q2566H
p.Q2574H
p.Q2570H
p.Q2451H

17.31

1.142E-5

Codina-Sola2015 E

DMD

2-0319-004

chrX:
31379018-31379018

C

T

intronic

De novo

-

Yuen2017 G

DMD

AU038204

chrX:
32657426-32657426

A

T

intronic

De novo

-

Yuen2017 G

DMD

AU3846302

chrX:
32846693-32846696

TATA

TATACATA

intronic

De novo

-

Yuen2017 G

DMD

AU062204

chrX:
32828061-32828074

AAAGAAAGAAAGAA

AAA

intronic

De novo

-

Yuen2017 G

DMD

5-0110-003

chrX:
33027583-33027590

ATGTGTGT

ATGT

intronic

De novo

-

Yuen2017 G

DMD

AU1987301

chrX:
32485947-32485953

GTAATAA

GTAA

intronic

De novo

-

Yuen2017 G

DMD

AU4122301

chrX:
31429037-31429038

TG

T

intronic

De novo

-

Yuen2017 G

DMD

2-0208-003

chrX:
32045275-32045275

G

GTGCACACACACACA

intronic

De novo

-

Yuen2017 G

DMD

AU3645301

chrX:
31411596-31411625

AAAAAAAAAAAAACAAAAAAAAAAAACAAA

AAAAAAAAAAAAACAAA

intronic

De novo

-

Yuen2017 G

DMD

13393.p1

chrX:
34022298-34022298

A

G

intergenic

De novo

-

Turner2016 G

DMD

2-1300-003

chrX:
31840771-31840772

GT

G

intronic

De novo

-

Yuen2017 G

DMD

5-0116-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

DMD

5-0116-003

chrX:
33327830-33327830

G

A

intronic

De novo

-

Yuen2017 G

DMD

2-1632-003

chrX:
31553481-31553481

C

A

intronic

De novo

-

Yuen2017 G

DMD

AU4007302

chrX:
33772374-33772374

A

G

intergenic

De novo

-

Yuen2017 G

DMD

1-0652-004

chrX:
31229285-31229285

A

T

intronic

De novo

-

Yuen2017 G

DMD

1-0756-005

chrX:
32534568-32534568

G

A

intronic

De novo

-

Yuen2017 G

DMD

1-0305-004

chrX:
31484826-31484826

T

G

intronic

De novo

-

Yuen2017 G

DMD

AU4060306

chrX:
33862328-33862338

CTTTTTTTTTT

CTTTTTTTTT

intergenic

De novo

-

Yuen2017 G

DMD

2-0002-005

chrX:
32877021-32877021

T

C

intronic

De novo

-

Yuen2017 G

DMD

2-1131-003

chrX:
32766500-32766500

A

G

intronic

De novo

-

Yuen2017 G

DMD

AU072505

chrX:
33937112-33937119

TTTGTCTT

TTTGTCTTGTCTT

intergenic

De novo

-

Yuen2017 G

DMD

2-1005-003

chrX:
31956326-31956326

G

A

intronic

De novo

-

Yuen2017 G

DMD

5-0128-003

chrX:
32828061-32828074

AAAGAAAGAAAGAA

AAA

intronic

De novo

-

Yuen2017 G

DMD

7-0008-003

chrX:
32836192-32836192

T

C

intronic

De novo

-

Yuen2017 G

DMD

AU3782303

chrX:
31411596-31411625

AAAAAAAAAAAAACAAAAAAAAAAAACAAA

AAAAAAAAAAAAACAAA

intronic

De novo

-

Yuen2017 G

DMD

7-0250-003

chrX:
34142006-34142006

A

T

intergenic

De novo

-

Yuen2017 G

DMD

11C119366

chrX:
31496407-31496407

A

C

exonic

De novo

nonsynonymous SNV

NM_004014
NM_004013
NM_004020
NM_004021
NM_004022
NM_004023
NM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010

c.T566G
c.T1373G
c.T1373G
c.T1373G
c.T1373G
c.T1373G
c.T4730G
c.T4721G
c.T8729G
c.T8753G
c.T8741G
c.T8384G

p.L189W
p.L458W
p.L458W
p.L458W
p.L458W
p.L458W
p.L1577W
p.L1574W
p.L2910W
p.L2918W
p.L2914W
p.L2795W

22.2

1.141E-5

Satterstrom2020 E

DMD

14230.p1

chrX:
32430306-32430306

T

A

exonic

De novo

synonymous SNV

NM_004011

c.A21T

p.L7L

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DMD

2-1169-003

chrX:
33722619-33722619

A

G

intergenic

De novo

-

Yuen2017 G

DMD

2-1251-003

chrX:
33082667-33082667

C

T

intronic

De novo

-

Yuen2017 G

DMD

AU1988302

chrX:
32634816-32634836

TTTTTTTTTTTTTTTTTCTTT

TTTT

intronic

De novo

-

Yuen2017 G

DMD

1-0668-003

chrX:
33937130-33937145

CTTTCTTTCTTTCTTT

CT

intergenic

De novo

-

Yuen2017 G

DMD

1-0046-003

chrX:
32354195-32354199

ATGTT

AT

intronic

De novo

-

Yuen2017 G

DMD

PN400457

chrX:
31140000-31140013

CTCTGCCCAAATCA

C

exonic

Unknown

frameshift deletion

NM_004018
NM_004016
NM_004023
NM_004022
NM_004021

c.1806_1818del
c.1845_1857del
c.3339_3351del
c.3630_3642del
c.3669_3681del

p.D602fs
p.D615fs
p.D1113fs
p.D1210fs
p.D1223fs

-

3.0E-4

Leblond2019 E

DMD

AU043804

chrX:
31384645-31384667

TAAAAGAAAAAAAAGAAAAAAAA

TAAAAGAAAAAAAA

intronic

De novo

-

Yuen2017 G

DMD

7-0256-003

chrX:
33541813-33541813

G

T

intergenic

De novo

-

Yuen2017 G

DMD

AU2711303

chrX:
32094193-32094208

AAAAAAAAAAAAGAGA

AA

intronic

De novo

-

Yuen2017 G

DMD

AU3702306

chrX:
32298273-32298288

ATATATACAGTATATA

ATATATA

intronic

De novo

-

Yuen2017 G

DMD

Kenny2014:9

chrX:
32429867-32429867

G

A

splicing

Unknown

splicing

16.69

5.0E-4

Kenny2014 T

DMD

1-0271-004

chrX:
31337684-31337684

T

C

intronic

De novo

-

Yuen2017 G

DMD

AU012804

chrX:
32072207-32072207

A

T

intronic

De novo

-

Yuen2017 G

DMD

1-0367-003

chrX:
32573098-32573099

GA

GAAA

intronic

De novo

-

Yuen2017 G

DMD

AU3777301

chrX:
31441988-31441988

T

C

intronic

De novo

-

Yuen2017 G

DMD

ASD057

chrX:
32663092-32663092

G

A

exonic

Inherited

nonsynonymous SNV

NM_000109
NM_004006
NM_004009
NM_004010

c.C1114T
c.C1138T
c.C1126T
c.C769T

p.H372Y
p.H380Y
p.H376Y
p.H257Y

15.78

-

Tran2020 E
Wu2019 E

DMD

AU4032307

chrX:
31863505-31863514

TCTCTCTCTC

TCTCTCTCTCCCTCTCTCTC

intronic

De novo

-

Yuen2017 G

DMD

ASD059

chrX:
32490353-32490353

T

G

exonic

Inherited

nonsynonymous SNV

NM_000109
NM_004006
NM_004009
NM_004010

c.A2853C
c.A2877C
c.A2865C
c.A2508C

p.E951D
p.E959D
p.E955D
p.E836D

16.17

-

Tran2020 E
Wu2019 E

DMD

AU3610302

chrX:
33378827-33378834

CAAATAAA

CAAA

intergenic

De novo

-

Yuen2017 G

DMD

1-0206-005

chrX:
32708683-32708683

A

G

intronic

De novo

-

Yuen2017 G

DMD

AU4359301

chrX:
32801406-32801413

TACACACA

TACACA

intronic

De novo

-

Yuen2017 G

DMD

AU003405

chrX:
32581845-32581845

A

G

intronic

De novo

-

Yuen2017 G

DMD

2-1132-003

chrX:
32355921-32355921

C

A

intronic

De novo

-

Yuen2017 G

DMD

2-1366-003

chrX:
32616865-32616865

A

T

intronic

De novo

-

Yuen2017 G

DMD

AU1848302

chrX:
33894559-33894559

A

G

intergenic

De novo

-

Yuen2017 G

DMD

1-0073-003

chrX:
33449761-33449761

T

C

intergenic

De novo

-

Yuen2017 G

DMD

2-1132-003

chrX:
33852170-33852170

G

GGC

intergenic

De novo

-

Yuen2017 G

DMD

AU2137304

chrX:
32573074-32573085

GAGAAAGAAAGA

GAGAAAGAAAGAAAGA

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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