Variant Results

or

Results for "SCAPER"

Variant Events: 33

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

SCAPER

1-0511-003

chr15:
77004938-77004938

A

G

intronic

De novo

-

Yuen2017 G

SCAPER

1-0201-005

chr15:
77038298-77038298

G

C

intronic

De novo

-

Yuen2017 G

SCAPER

2-1117-003

chr15:
76657573-76657573

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SCAPER

AU3847302

chr15:
76641556-76641556

A

T

intronic

De novo

-

Yuen2017 G

SCAPER

JASD_Fam0043

chr15:
76726486-76726486

T

C

exonic

De novo

nonsynonymous SNV

NM_020843
NM_001145923

c.A3244G
c.A2506G

p.T1082A
p.T836A

13.81

-

Takata2018 E

SCAPER

1-0522-003

chr15:
76840010-76840010

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SCAPER

2-1146-003

chr15:
76950794-76950794

G

A

intronic

De novo

-

Yuen2017 G

SCAPER

AU4186302

chr15:
76929051-76929051

T

G

intronic

De novo

-

Yuen2017 G

SCAPER

AU3777302

chr15:
76765072-76765072

T

C

intronic

De novo

-

Yuen2017 G

SCAPER

1-0215-006

chr15:
77200095-77200095

A

C

intergenic

De novo

-

Yuen2017 G

SCAPER

SP0100849

chr15:
77087637-77087637

C

T

exonic

De novo

synonymous SNV

NM_020843

c.G756A

p.K252K

-

Fu2022 E

SCAPER

AU2140306

chr15:
77017266-77017266

G

A

intronic

De novo

-

Yuen2017 G

SCAPER

SP0104165

chr15:
77057945-77057945

C

A

exonic

De novo

nonsynonymous SNV

NM_020843
NM_001145923

c.G1454T
c.G716T

p.G485V
p.G239V

22.6

-

Fu2022 E

SCAPER

5-0065-003

chr15:
76802803-76802805

CAT

C

intronic

De novo

-

Yuen2017 G

SCAPER

AU4056302

chr15:
76658252-76658252

C

T

intronic

De novo

-

Yuen2017 G

SCAPER

AU4235303

chr15:
76783117-76783117

T

A

intronic

De novo

-

Yuen2017 G

SCAPER

SP0099157

chr15:
76668570-76668570

C

T

exonic

De novo

nonsynonymous SNV

NM_020843
NM_001145923

c.G3788A
c.G3050A

p.C1263Y
p.C1017Y

18.94

-

Fu2022 E

SCAPER

SP0044424

chr15:
76763605-76763605

A

G

exonic

De novo

nonsynonymous SNV

NM_020843
NM_001145923

c.T3026C
c.T2288C

p.L1009P
p.L763P

23.3

-

Fu2022 E

SCAPER

1-0567-004

chr15:
76723511-76723512

TA

T

intronic

De novo

-

Yuen2017 G

SCAPER

PN400517

chr15:
76995252-76995252

T

A

exonic

Unknown

nonsynonymous SNV

NM_020843
NM_001145923

c.A2339T
c.A1601T

p.D780V
p.D534V

26.7

-

Leblond2019 E

SCAPER

AU4069302

chr15:
77157280-77157280

A

G

intronic

De novo

-

Yuen2017 G

SCAPER

1-0383-003

chr15:
76768763-76768778

TTTTCTTTCTTTCTTT

TTTTCTTTCTTT

intronic

De novo

-

Yuen2017 G

SCAPER

AU3866301

chr15:
76666461-76666461

T

C

intronic

De novo

-

Yuen2017 G

SCAPER

2-1239-003

chr15:
76899700-76899700

G

T

intronic

De novo

-

Yuen2017 G

SCAPER

2-0238-003

chr15:
76649006-76649006

G

C

intronic

De novo

-

Yuen2017 G

SCAPER

PN400114

chr15:
76995252-76995252

T

A

exonic

Unknown

nonsynonymous SNV

NM_020843
NM_001145923

c.A2339T
c.A1601T

p.D780V
p.D534V

26.7

-

Leblond2019 E

SCAPER

1-0153-004

chr15:
77117097-77117097

A

C

intronic

De novo

-

Yuen2017 G

SCAPER

1-0563-003

chr15:
76664132-76664132

G

A

intronic

De novo

-

Yuen2017 G

SCAPER

AU3997301

chr15:
77165256-77165256

G

C

intronic

De novo

-

Yuen2017 G

SCAPER

5-0004-003

chr15:
77092485-77092485

T

TTAC

intronic

De novo

-

Yuen2017 G

SCAPER

A22

chr15:
77027637-77027637

C

G

intronic

De novo

-

Wu2018 G

SCAPER

AU4463303

chr15:
76762873-76762873

C

T

intronic

De novo

-

Yuen2017 G

SCAPER

2-1425-004

chr15:
76933426-76933426

T

TA

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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