Variant Results

or

Results for "DPP6"

Variant Events: 71

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

DPP6

2-0272-003

chr7:
154473307-154473307

C

CG

intronic

De novo

-

Yuen2017 G

DPP6

3-0458-000B

chr7:
153844793-153844806

CTATATATATATAT

CTATATATATAT

intronic

De novo

-

Yuen2017 G

DPP6

AU4159302

chr7:
154089379-154089379

G

A

intronic

De novo

-

Yuen2017 G

DPP6

AU2485305

chr7:
153980163-153980163

T

G

intronic

De novo

-

Yuen2017 G

DPP6

12175.p1

chr7:
154462585-154462585

C

T

intronic

De novo

-

Turner2016 G

DPP6

1-0998-003

chr7:
153983648-153983657

AATTTTAATG

AATTTTAATGATTTTAATG

intronic

De novo

-

Yuen2017 G

DPP6

2-0285-004

chr7:
154692914-154692914

G

A

intergenic

De novo

-

Yuen2017 G

DPP6

2-1635-004

chr7:
153950769-153950772

GATA

G

intronic

De novo

-

Yuen2017 G

DPP6

AU3885305

chr7:
154610144-154610144

C

T

intronic

De novo

-

Yuen2017 G

DPP6

1-0153-004

chr7:
154577371-154577371

T

A

intronic

De novo

-

Yuen2017 G

DPP6

14523_p1

chr7:
154561183-154561183

G

A

exonic

De novo

nonsynonymous SNV

NM_001290252
NM_001039350
NM_001936
NM_130797

c.G619A
c.G748A
c.G754A
c.G940A

p.A207T
p.A250T
p.A252T
p.A314T

22.2

3.314E-5

Fu2022 E

DPP6

AU4028302

chr7:
153758309-153758309

G

C

intronic

De novo

-

Yuen2017 G

DPP6

AU4028302

chr7:
153758525-153758525

C

G

intronic

De novo

-

Yuen2017 G

DPP6

2-0043-003

chr7:
153873847-153873847

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DPP6

AU3712302

chr7:
154405482-154405482

T

A

intronic

De novo

-

Yuen2017 G

DPP6

AU3648301

chr7:
154150128-154150128

A

G

intronic

De novo

-

Yuen2017 G

DPP6

AU3857301

chr7:
154504455-154504455

C

A

intronic

De novo

-

Yuen2017 G

DPP6

2-1526-003

chr7:
154688598-154688598

T

G

intergenic

De novo

-

Yuen2017 G

DPP6

AU076509

chr7:
153926277-153926277

G

T

intronic

De novo

-

Yuen2017 G

DPP6

AU3371301

chr7:
154702865-154702865

G

A

intergenic

De novo

-

Yuen2017 G

DPP6

1-0627-007

chr7:
154179220-154179220

G

T

intronic

De novo

-

Yuen2017 G

DPP6

1-0826-003

chr7:
154032415-154032415

C

CAAAAT

intronic

De novo

-

Yuen2017 G

DPP6

AU2139305

chr7:
153956247-153956247

A

G

intronic

De novo

-

Yuen2017 G

DPP6

AU2108302

chr7:
153739032-153739032

C

T

intronic

De novo

-

Yuen2017 G

DPP6

Hu2022:52

chr7:
154585802-154585802

A

G

exonic

Unknown

nonsynonymous SNV

NM_001290252
NM_001039350
NM_001936
NM_130797

c.A829G
c.A958G
c.A964G
c.A1150G

p.T277A
p.T320A
p.T322A
p.T384A

18.77

-

Hu2022 T

DPP6

SP0043850

chr7:
154585859-154585859

C

T

exonic

De novo

stopgain

NM_001290252
NM_001039350
NM_001936
NM_130797

c.C886T
c.C1015T
c.C1021T
c.C1207T

p.Q296X
p.Q339X
p.Q341X
p.Q403X

39.0

-

Feliciano2019 E
Fu2022 E

DPP6

3-0458-000A

chr7:
153844793-153844806

CTATATATATATAT

CTATATATATAT

intronic

De novo

-

Yuen2017 G

DPP6

2-1195-003

chr7:
153844871-153844871

C

T

intronic

De novo

-

Yuen2017 G

DPP6

2-1348-003

chr7:
154613417-154613417

T

C

intronic

De novo

-

Yuen2017 G

DPP6

AU1355301

chr7:
153708556-153708562

CAAAAAA

CAAAAAAA

intronic

De novo

-

Yuen2017 G

DPP6

2-1296-003

chr7:
154508432-154508432

G

C

intronic

De novo

-

Yuen2017 G

DPP6

iHART2027

chr7:
154664403-154664407

TGTAA

T

splicing

Paternal

splicing

-

Ruzzo2019 G

DPP6

1-0336-003

chr7:
153935124-153935124

T

G

intronic

De novo

-

Yuen2017 G

DPP6

iHART2032

chr7:
153584813-153584823

CGTGATGGTGA

C

exonic

Paternal

nonframeshift deletion

NM_001039350

c.46_51del

p.16_17del

-

Ruzzo2019 G

DPP6

AU4186302

chr7:
154445068-154445069

TA

T

intronic

De novo

-

Yuen2017 G

DPP6

AU4359301

chr7:
154659843-154659843

A

G

intronic

De novo

-

Yuen2017 G

DPP6

1-0330-003

chr7:
154495928-154495928

G

C

intronic

De novo

-

Yuen2017 G

DPP6

AU3175302

chr7:
154458687-154458687

A

G

intronic

De novo

-

Yuen2017 G

DPP6

AU3790301

chr7:
154554950-154554950

G

A

intronic

De novo

-

Yuen2017 G

DPP6

2-1315-003

chr7:
153880217-153880217

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DPP6

AU2029303

chr7:
154589577-154589577

A

G

intronic

De novo

-

Yuen2017 G

DPP6

AU1909304

chr7:
153975980-153975988

ATGTGTGTG

ATGTGTG

intronic

De novo

-

Yuen2017 G

DPP6

1-0912-003

chr7:
153895576-153895576

C

T

intronic

De novo

-

Yuen2017 G

DPP6

2-0272-004

chr7:
154470475-154470475

A

G

intronic

De novo

-

Yuen2017 G

DPP6

AU005213

chr7:
153595379-153595379

A

C

intronic

De novo

-

Yuen2017 G

DPP6

2-1085-004

chr7:
154182479-154182479

G

A

intronic

De novo

-

Yuen2017 G

DPP6

14523.p1

chr7:
154561183-154561183

G

A

exonic

De novo

nonsynonymous SNV

NM_001290252
NM_001039350
NM_001936
NM_130797

c.G619A
c.G748A
c.G754A
c.G940A

p.A207T
p.A250T
p.A252T
p.A314T

22.2

3.314E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

DPP6

13906.p1

chr7:
154681252-154681252

A

G

intronic

De novo

-

1.422E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DPP6

A19

chr7:
154640012-154640012

G

A

intronic

De novo

-

Wu2018 G

DPP6

7-0077-003

chr7:
153802240-153802240

G

A

intronic

De novo

-

Yuen2017 G

DPP6

2-0145-003

chr7:
153867584-153867584

C

CCCCA

intronic

De novo

-

Yuen2017 G

DPP6

2-0238-004

chr7:
154007966-154007966

G

T

intronic

De novo

-

Yuen2017 G

DPP6

AU024608

chr7:
154389002-154389002

A

G

intronic

De novo

-

Yuen2017 G

DPP6

1-0609-003

chr7:
154638343-154638343

G

A

intronic

De novo

-

Yuen2017 G

DPP6

5-0004-003

chr7:
153981280-153981280

C

T

intronic

De novo

-

Yuen2017 G

DPP6

2-1166-003

chr7:
154137954-154137954

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DPP6

AU4033304

chr7:
154503790-154503790

A

G

intronic

De novo

-

Yuen2017 G

DPP6

2-0122-003

chr7:
154593766-154593766

C

T

intronic

De novo

-

Yuen2017 G

DPP6

AU2029302

chr7:
154589577-154589577

A

G

intronic

De novo

-

Yuen2017 G

DPP6

2-0244-004

chr7:
154218330-154218330

T

C

intronic

De novo

-

Yuen2017 G

DPP6

AU3955303

chr7:
154477359-154477359

G

A

intronic

De novo

-

Yuen2017 G

DPP6

1-0345-003

chr7:
154391998-154391998

C

T

intronic

De novo

-

Yuen2017 G

DPP6

1-0606-003

chr7:
154253702-154253702

A

T

intronic

De novo

-

Yuen2017 G

DPP6

AU2381302

chr7:
153999693-153999693

C

T

intronic

De novo

-

Yuen2017 G

DPP6

AU2072302

chr7:
154518376-154518376

T

C

intronic

De novo

-

Yuen2017 G

DPP6

1-0232-004

chr7:
154625702-154625702

C

T

intronic

De novo

-

Yuen2017 G

DPP6

2-1290-004

chr7:
153639806-153639806

A

G

intronic

De novo

-

Yuen2017 G

DPP6

1-0346-004

chr7:
154414400-154414400

G

A

intronic

De novo

-

Yuen2017 G

DPP6

AU3911301

chr7:
153705741-153705744

TTCT

TT

intronic

De novo

-

Yuen2017 G

DPP6

2-1280-003

chr7:
153939485-153939485

A

G

intronic

De novo

-

Yuen2017 G

DPP6

5-0148-003

chr7:
154645526-154645526

C

T

exonic

De novo

nonsynonymous SNV

NM_001290252
NM_001039350
NM_001936
NM_130797

c.C1382T
c.C1511T
c.C1517T
c.C1703T

p.T461I
p.T504I
p.T506I
p.T568I

5.256

-

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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