Variant Results

or

Results for "PCCA"

Variant Events: 64

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

PCCA

1-0918-003

chr13:
100784396-100784396

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

1-0197-004

chr13:
101172871-101172871

A

AGAGC

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

2-0202-004

chr13:
100963198-100963198

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

1-0045-004

chr13:
101015350-101015350

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

2-1315-003

chr13:
101076355-101076355

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PCCA

AU1860301

chr13:
100968697-100968697

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

14015.p1

chr13:
101173890-101173890

C

A

intronic

De novo

-

Turner2016 G

PCCA

AU050403

chr13:
100995740-100995740

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

AU1933302

chr13:
100767815-100767815

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

AU1988302

chr13:
100935906-100935906

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

1-0522-003

chr13:
100954200-100954200

A

G

intronic

De novo

-

Yuen2017 G

PCCA

AU3859301

chr13:
100996236-100996236

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

2-0273-003

chr13:
100954495-100954495

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

Viggiano2022:22.3

chr13:
100861635-100861635

C

G

exonic

Paternal

nonsynonymous SNV

NM_001127692
NM_000282
NM_001178004

c.C440G
c.C518G
c.C518G

p.A147G
p.A173G
p.A173G

19.48

1.647E-5

Viggiano2022 GT

PCCA

1-0252-003

chr13:
100842168-100842168

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

2-1142-003

chr13:
101177798-101177798

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

5418

chr13:
100741358-100741358

G

T

UTR5

De novo

-

Trost2022 G

PCCA

AU2433303

chr13:
101079655-101079655

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

Viggiano2022:22.4

chr13:
100861635-100861635

C

G

exonic

Paternal

nonsynonymous SNV

NM_001127692
NM_000282
NM_001178004

c.C440G
c.C518G
c.C518G

p.A147G
p.A173G
p.A173G

19.48

1.647E-5

Viggiano2022 GT

PCCA

REACH000582

chr13:
100826692-100826692

G

A

intronic

De novo

-

Trost2022 G

PCCA

3-0199-000

chr13:
100839884-100839884

A

AT

intronic

De novo

-

Trost2022 G

PCCA

3-0207-000

chr13:
100790954-100790954

C

T

intronic

De novo

-

Trost2022 G

PCCA

REACH000349

chr13:
100801082-100801082

G

A

intronic

De novo

-

Trost2022 G

PCCA

AU2433303

chr13:
101082825-101082825

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

MSSNG00422-004

chr13:
100771196-100771196

C

T

intronic

De novo

-

Trost2022 G

PCCA

AU2433303

chr13:
101087998-101087998

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

7-0373-003

chr13:
100779659-100779659

A

G

intronic

De novo

-

Trost2022 G

PCCA

5-5040-003

chr13:
100762202-100762202

A

G

intronic

De novo

-

Trost2022 G

PCCA

7-0347-003

chr13:
100770695-100770695

A

G

intronic

De novo

-

Trost2022 G

PCCA

5-0005-003

chr13:
100953354-100953354

G

A

intronic

De novo

-

Trost2022 G

PCCA

2-1723-003

chr13:
100968412-100968412

T

C

intronic

De novo

-

Trost2022 G

PCCA

REACH000327

chr13:
100937036-100937036

G

C

intronic

De novo

-

Trost2022 G

PCCA

mAGRE5282

chr13:
101101559-101101563

GGTAA

G

splicing

Maternal

splicing

-

Cirnigliaro2023 G

PCCA

1-0119-004

chr13:
100786822-100786822

G

GTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

5-5022-003

chr13:
100937180-100937180

A

T

intronic

De novo

-

Trost2022 G

PCCA

5-5072-003

chr13:
100892837-100892837

A

AT

intronic

De novo

-

Trost2022 G

PCCA

11504.p1

chr13:
100741358-100741358

G

T

UTR5

De novo

-

Satterstrom2020 E

PCCA

MT_48.3

chr13:
100922477-100922477

A

T

intronic

De novo

-

Trost2022 G

PCCA

2-1776-003

chr13:
100873564-100873564

T

C

intronic

De novo

-

Trost2022 G

PCCA

7-0365-003

chr13:
100875530-100875530

C

T

intronic

De novo

-

Trost2022 G

PCCA

1-0957-003

chr13:
101082386-101082386

A

G

intronic

De novo

-

Trost2022 G

PCCA

1-0646-003

chr13:
101113875-101113875

C

A

intronic

De novo

-

Trost2022 G

PCCA

1-0092-003

chr13:
100892648-100892648

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

7-0449-003

chr13:
101080277-101080277

C

T

intronic

De novo

-

Trost2022 G

PCCA

1-0957-003

chr13:
101082375-101082375

C

CAA

intronic

De novo

-

Trost2022 G

PCCA

5-1008-003

chr13:
101049967-101049967

A

T

intronic

De novo

-

Trost2022 G

PCCA

2-1823-004

chr13:
101071695-101071695

T

C

intronic

De novo

-

Trost2022 G

PCCA

AU2237301

chr13:
101001056-101001056

T

C

intronic

De novo

-

Trost2022 G

PCCA

3-0325-000

chr13:
101021384-101021384

G

A

intronic

De novo

-

Trost2022 G

PCCA

4-0062-003

chr13:
101174342-101174343

TC

AA

intronic

De novo

-

Trost2022 G

PCCA

SJD_54.3

chr13:
101170223-101170223

G

A

intronic

De novo

-

Trost2022 G

PCCA

MSSNG00131-003

chr13:
101172190-101172190

C

G

intronic

De novo

-

Trost2022 G

PCCA

7-0390-004

chr13:
101145659-101145659

T

A

intronic

De novo

-

Trost2022 G

PCCA

1-0652-004

chr13:
101167936-101167936

C

A

intronic

De novo

-

Trost2022 G

PCCA

1-1148-003

chr13:
101114073-101114073

C

T

intronic

De novo

-

Trost2022 G

PCCA

1-0487-003

chr13:
100773932-100773932

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PCCA

SP0068557

chr13:
100962053-100962053

A

G

intronic

De novo

-

Fu2022 E

PCCA

2-0063-003

chr13:
100765415-100765415

T

TAC

intronic

De novo

-

Yuen2017 G

PCCA

AU3053302

chr13:
100796338-100796338

T

C

intronic

De novo

-

Yuen2017 G

PCCA

2-1164-003

chr13:
100916891-100916891

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

7-0247-003

chr13:
100745301-100745301

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCCA

AU2123301

chr13:
100794974-100794974

C

T

intronic

De novo

-

Yuen2017 G

PCCA

ASC_CA_05_A

chr13:
100915105-100915105

T

G

intronic

De novo

-

8.415E-6

Satterstrom2020 E
Trost2022 G

PCCA

AU4060306

Complex Event; expand row to view variants

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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