Variant Results

or

or

Results for "DNAH14"

Variant Events: 83

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

DNAH14

2-1506-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

AU1952305

chr1:
225269093-225269093

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

2-1182-003

chr1:
225581544-225581544

G

A

intronic

De novo

-

-

Yuen2017 G

DNAH14

1-0990-003

chr1:
225247308-225247308

A

G

intronic

De novo

-

-

Yuen2017 G

DNAH14

SP0039685

chr1:
225273265-225273265

A

G

exonic

De novo

nonsynonymous SNV

NM_001373

c.A3347G

p.E1116G

10.57

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH14

1-0213-003

chr1:
225460392-225460392

C

T

intronic

De novo

-

-

Yuen2016 G

DNAH14

2-1094-005

chr1:
225226127-225226127

C

CTTTCTTTCTTT

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

1-0004-003

chr1:
225304465-225304465

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

SP0151508

chr1:
225211991-225211991

A

G

UTR3

De novo

-

-

Fu2022 E
Trost2022 G

DNAH14

SP0146866

chr1:
225565131-225565131

A

C

exonic

De novo

nonsynonymous SNV

NM_001373

c.A12403C

p.M4135L

5.672

-

Fu2022 E

DNAH14

SP0140084

chr1:
225147975-225147975

A

G

exonic

De novo

nonsynonymous SNV

NM_001145154
NM_001373
NM_144989

c.A338G
c.A338G
c.A338G

p.K113R
p.K113R
p.K113R

10.11

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH14

SP0098777

chr1:
225552524-225552524

T

G

exonic

De novo

synonymous SNV

NM_001373

c.T11739G

p.P3913P

-

-

Fu2022 E

DNAH14

AU056604

chr1:
225118054-225118054

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

SP0006708

chr1:
225552524-225552524

T

G

exonic

De novo

synonymous SNV

NM_001373

c.T11739G

p.P3913P

-

-

Fu2022 E

DNAH14

1-0226-005

chr1:
225539281-225539281

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

111296

chr1:
225490981-225490981

C

T

exonic

nonsynonymous SNV

NM_001373

c.C8476T

p.P2826S

20.3

-

Woodbury-Smith2022 E

DNAH14

7-0371-003

chr1:
225160236-225160236

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

AU1940304

chr1:
225498181-225498181

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

SP0014502

chr1:
225155129-225155129

T

A

intronic

De novo

-

-

Trost2022 G

DNAH14

3-0668-000

chr1:
225296513-225296513

T

A

intronic

De novo

-

-

Trost2022 G

DNAH14

1-0956-003

chr1:
225230900-225230900

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

10-1019-003

chr1:
225332731-225332731

C

A

intronic

De novo

-

-

Trost2022 G

DNAH14

2-1182-003

chr1:
225507684-225507686

CAG

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

DNAH14

3-0416-000

chr1:
225303255-225303255

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

12472.p1

chr1:
225477821-225477821

G

T

intronic

De novo

-

-

Satterstrom2020 E

DNAH14

1-1196-003

chr1:
225178327-225178328

AT

A

intronic

De novo

-

-

Trost2022 G

DNAH14

MT_184.3

chr1:
225170694-225170694

T

C

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00411-003

chr1:
225203672-225203686

GTCTGGGACTGTAGC

G

intronic

De novo

-

-

Trost2022 G

DNAH14

1-1191-003

chr1:
225194727-225194727

G

T

intronic

De novo

-

-

Trost2022 G

DNAH14

11194.p1

chr1:
225231218-225231218

C

G

intronic

De novo

-

-

Turner2016 G

DNAH14

2-1068-003

chr1:
225448158-225448158

A

G

intronic

De novo

-

-

Trost2022 G

DNAH14

REACH000639

chr1:
225417786-225417786

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

AU2129301

chr1:
225473233-225473233

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

14482.p1

chr1:
225191638-225191638

G

A

intronic

De novo

-

-

Turner2016 G

DNAH14

5-5231-003

chr1:
225468991-225468991

C

G

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00030-003

chr1:
225336726-225336726

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

AU3051303

chr1:
225458568-225458568

G

A

exonic

De novo

synonymous SNV

NM_001373

c.G7653A

p.Q2551Q

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

DNAH14

3-0360-000

chr1:
225335672-225335672

T

C

intronic

De novo

-

-

Trost2022 G

DNAH14

5-5098-003

chr1:
225405113-225405113

C

G

intronic

De novo

-

-

Trost2022 G

DNAH14

1-0362-003

chr1:
225366941-225366941

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00128-003

chr1:
225523195-225523195

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00045-005

chr1:
225523195-225523195

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

1-1230-003

chr1:
225523203-225523203

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

MT_13.3

chr1:
225523195-225523195

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

14-591

chr1:
225522017-225522017

A

T

intronic

De novo

-

-

Trost2022 G

DNAH14

SSC05167

chr1:
225477821-225477821

G

T

intronic

De novo

-

-

Trost2022 G

DNAH14

1-0213-004

chr1:
225460392-225460392

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

MSSNG00031-004

chr1:
225523195-225523195

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

1-1230-003

chr1:
225523195-225523195

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

1-0139-005

chr1:
225525131-225525131

T

C

exonic

De novo

nonsynonymous SNV

NM_001373

c.T9965C

p.I3322T

8.922

Yuen2017 G
Zhou2022 GE

DNAH14

MSSNG00128-003

chr1:
225523206-225523206

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00045-005

chr1:
225523206-225523206

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

MT_13.3

chr1:
225523206-225523206

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00203-003

chr1:
225523206-225523206

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

1-1044-003

chr1:
225523206-225523206

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00045-005

chr1:
225523203-225523203

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

1-0224-004

chr1:
225571494-225571494

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

MSSNG00031-004

chr1:
225523206-225523206

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

2-1342-003

chr1:
225523206-225523206

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

1-0971-003

chr1:
225348727-225348727

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

MSSNG00340-004

chr1:
225536940-225536940

T

C

intronic

De novo

-

-

Trost2022 G

DNAH14

1-0184-003

chr1:
225236534-225236534

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

MSSNG00045-005

chr1:
225523219-225523219

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

3-0783-000

chr1:
225534245-225534245

A

C

exonic

nonsynonymous SNV

NM_001373

c.A10906C

p.N3636H

13.49

-

Zhou2022 GE

DNAH14

5-5170-003

chr1:
225558749-225558749

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

REACH000697

chr1:
225557617-225557617

G

A

intronic

De novo

-

-

Trost2022 G

DNAH14

2-1342-003

chr1:
225523211-225523211

A

G

intronic

De novo

-

-

Trost2022 G

DNAH14

5-0137-003

chr1:
225404496-225404496

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

1-0973-003

chr1:
225523211-225523211

A

G

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00128-003

chr1:
225523211-225523211

A

G

intronic

De novo

-

-

Trost2022 G

DNAH14

MSSNG00045-005

chr1:
225523211-225523211

A

G

intronic

De novo

-

-

Trost2022 G

DNAH14

5-0050-003

chr1:
225577383-225577383

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

1-0763-004

chr1:
225560974-225560974

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

7-0174-003

chr1:
225309644-225309644

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

1-0763-004

chr1:
225560964-225560968

CGCCA

GGGTG

intronic

De novo

-

-

Trost2022 G

DNAH14

1-1066-003

chr1:
225587679-225587679

C

A

downstream

De novo

-

-

Trost2022 G

DNAH14

3-0161-000

chr1:
225576749-225576749

C

T

intronic

De novo

-

-

Trost2022 G

DNAH14

AU4013302

chr1:
225574317-225574317

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

1-0271-004

chr1:
225416368-225416375

ATGTTATT

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

SP0031073

chr1:
225311338-225311338

G

T

intronic

De novo

-

-

Fu2022 E

DNAH14

1-0756-004

chr1:
225421450-225421450

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

2-1366-004

chr1:
225545780-225545780

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAH14

1-0336-003

chr1:
225560934-225560934

G

GCTCACGCCT

intronic

De novo

-

-

Trost2022 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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