Variant Results

or

Results for "CRB1"

Variant Events: 39

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

CRB1

AU4223302

chr1:
197456293-197456293

C

T

intergenic

De novo

-

Yuen2017 G

CRB1

2-0202-003

chr1:
197342847-197342847

A

C

intronic

De novo

-

Trost2022 G

CRB1

04C35994

chr1:
197297876-197297876

C

T

exonic

De novo

nonsynonymous SNV

NM_001193640
NM_001257966
NM_201253
NM_001257965

c.C395T
c.C395T
c.C395T
c.C188T

p.P132L
p.P132L
p.P132L
p.P63L

7.587

8.314E-6

Fu2022 E

CRB1

REACH000414

chr1:
197308590-197308590

T

C

intronic

De novo

-

Trost2022 G

CRB1

7-0462-004

chr1:
197354171-197354171

A

C

intronic

De novo

-

Trost2022 G

CRB1

2-1210-003

chr1:
197366992-197366992

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

2-0202-003

chr1:
197342851-197342852

AG

A

intronic

De novo

-

Trost2022 G

CRB1

7-0322-003

chr1:
197261472-197261472

G

C

intronic

De novo

-

Trost2022 G

CRB1

7-0444-003

chr1:
197192040-197192040

T

C

intronic

De novo

-

Trost2022 G

CRB1

2-1292-003

chr1:
197294120-197294120

C

A

intronic

De novo

-

Trost2022 G

CRB1

7-0322-003

chr1:
197261474-197261474

A

C

intronic

De novo

-

Trost2022 G

CRB1

REACH000517

chr1:
197388697-197388698

TG

T

intronic

De novo

-

Trost2022 G

CRB1

1-0329-003

chr1:
197384513-197384516

TGAC

GAAA

intronic

De novo

-

Trost2022 G

CRB1

AU3765302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CRB1

2-1114-003

chr1:
197395088-197395088

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

5-5065-003

chr1:
197396075-197396075

A

G

intronic

De novo

-

Trost2022 G

CRB1

2-0126-004

chr1:
197391353-197391353

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

10-0010-003

chr1:
197364287-197364287

A

G

intronic

De novo

-

Trost2022 G

CRB1

7-0357-004

chr1:
197355397-197355397

G

A

intronic

De novo

-

Trost2022 G

CRB1

09C89011

chr1:
197390429-197390429

G

A

exonic

De novo

nonsynonymous SNV

NM_001193640
NM_001257966
NM_201253
NM_001257965

c.G1135A
c.G1471A
c.G1471A
c.G1264A

p.D379N
p.D491N
p.D491N
p.D422N

0.01

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CRB1

1-0329-004

chr1:
197384513-197384516

TGAC

GAAA

intronic

De novo

-

Trost2022 G

CRB1

SJD_59.3

chr1:
197379469-197379469

A

G

intronic

De novo

-

Trost2022 G

CRB1

14070.p1

chr1:
197297759-197297759

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001193640
NM_001257966
NM_201253
NM_001257965

c.G278A
c.G278A
c.G278A
c.G71A

p.S93N
p.S93N
p.S93N
p.S24N

2.413

8.242E-6

Dou2017 E
Krumm2015 E

CRB1

AU4465303

chr1:
197315393-197315393

T

C

intronic

De novo

-

Yuen2017 G

CRB1

1-0671-003

chr1:
197331162-197331162

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

5-0055-004

chr1:
197288054-197288054

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

SSC09520

chr1:
197297759-197297759

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001193640
NM_001257966
NM_201253
NM_001257965

c.G278A
c.G278A
c.G278A
c.G71A

p.S93N
p.S93N
p.S93N
p.S24N

2.413

8.242E-6

Lim2017 E

CRB1

5-0114-003

chr1:
197345682-197345682

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

AU4234302

chr1:
197219701-197219701

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

1-0518-003

chr1:
197375005-197375005

G

A

intronic

De novo

-

Yuen2017 G

CRB1

AU4176302

chr1:
197172701-197172701

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

AU2165301

chr1:
197185498-197185498

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

2-1086-003

chr1:
197196762-197196762

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

1-0569-003

chr1:
197184721-197184721

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

2-1382-003

chr1:
197398799-197398799

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CRB1

1-0671-003

chr1:
197176426-197176426

G

T

intronic

De novo

-

Trost2022 G

CRB1

2-0002-005

chr1:
197342185-197342185

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

1-0473-003

chr1:
197286814-197286815

TA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRB1

G01-GEA-317-HI

chr1:
197397032-197397032

C

A

exonic

De novo

nonsynonymous SNV

NM_001193640
NM_201253
NM_001257965

c.C2241A
c.C2577A
c.C2370A

p.N747K
p.N859K
p.N790K

10.68

8.257E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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