Variant Results

or

Results for "CALN1"

Variant Events: 49

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

CALN1

2-1105-003

chr7:
72028734-72028734

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CALN1

2-1355-004

chr7:
71525325-71525325

T

C

intronic

De novo

-

Yuen2017 G

CALN1

1-0286-004

chr7:
71907817-71907817

G

GCACTTTATGTAGGGTTGCA

intergenic

De novo

-

Yuen2017 G

CALN1

2-0319-003

chr7:
71605400-71605400

C

A

intronic

De novo

-

Yuen2017 G

CALN1

2-1305-003

chr7:
71562061-71562061

G

A

intronic

De novo

-

Yuen2017 G

CALN1

1-0465-003a

chr7:
71625643-71625643

T

C

intronic

De novo

-

Yuen2017 G

CALN1

2-1510-003

chr7:
71309600-71309600

G

A

intronic

De novo

-

Yuen2017 G

CALN1

AU030703

chr7:
71628930-71628944

GAAGAAAGAAAGAAA

GAAGAAAGAAA

intronic

De novo

-

Yuen2017 G

CALN1

3-0169-000

chr7:
71588127-71588127

C

T

intronic

De novo

-

Yuen2016 G

CALN1

14590.p1

chr7:
71343977-71343977

C

T

intronic

De novo

-

Turner2016 G

CALN1

AU3713302

chr7:
71777248-71777248

G

T

intronic

De novo

-

Yuen2017 G

CALN1

1-0150-004

chr7:
71380383-71380383

A

C

intronic

De novo

-

Yuen2017 G

CALN1

2-1308-003

chr7:
71773550-71773550

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CALN1

1-0567-003

chr7:
71319276-71319276

C

T

intronic

De novo

-

Yuen2017 G

CALN1

7-0179-003

chr7:
71403851-71403851

A

T

intronic

De novo

-

Yuen2017 G

CALN1

1-0025-006

chr7:
71673946-71673946

C

A

intronic

Paternal

-

Yuen2017 G

CALN1

5-0138-003

chr7:
71731769-71731769

G

A

intronic

De novo

-

Yuen2017 G

CALN1

1-0901-004

chr7:
71626582-71626582

T

C

intronic

De novo

-

Yuen2017 G

CALN1

1-0160-004

chr7:
71839612-71839612

C

T

intronic

De novo

-

Yuen2017 G

CALN1

2-1288-003

chr7:
71394972-71394972

G

A

intronic

De novo

-

Yuen2017 G

CALN1

2-1509-003

chr7:
71853685-71853700

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

CALN1

2-1265-003

chr7:
71630869-71630869

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CALN1

1-0465-003

chr7:
71625643-71625643

T

C

intronic

De novo

-

Yuen2017 G

CALN1

2-1721-003

chr7:
71312372-71312372

C

T

intronic

De novo

-

Yuen2017 G

CALN1

1-0388-003

chr7:
72008554-72008554

C

T

intergenic

De novo

-

Yuen2017 G

CALN1

1-0433-004

chr7:
71329754-71329754

A

C

intronic

De novo

-

Yuen2017 G

CALN1

AC02-1197-01

chr7:
71488801-71488801

A

C

intronic

De novo

-

0.0038

Kosmicki2017 E

CALN1

2-0003-003

chr7:
71674023-71674023

C

CCT

intronic

De novo

-

Yuen2017 G

CALN1

3-0436-000

chr7:
71374017-71374017

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CALN1

AU4410302

chr7:
71786418-71786418

C

A

intronic

De novo

-

Yuen2017 G

CALN1

ASC_CA_58_A

chr7:
71571306-71571306

A

G

intronic

De novo

-

Satterstrom2020 E

CALN1

SP0007514

chr7:
71743811-71743811

C

T

intronic

De novo

-

Fu2022 E

CALN1

AU3399302

chr7:
71841475-71841482

TACTGACT

TACT

intronic

De novo

-

Yuen2017 G

CALN1

14143.p1

chr7:
71252912-71252912

G

A

intronic

De novo

-

Satterstrom2020 E

CALN1

2-1644-003

chr7:
71866925-71866925

T

C

intronic

De novo

-

Yuen2017 G

CALN1

AU3053302

chr7:
71810016-71810018

CAT

C

intronic

De novo

-

Yuen2017 G

CALN1

AU1542301

chr7:
71557416-71557416

C

T

intronic

De novo

-

Yuen2017 G

CALN1

AU3190305

chr7:
71737747-71737747

T

C

intronic

De novo

-

Yuen2017 G

CALN1

3-0439-000

chr7:
71657040-71657040

C

T

intronic

De novo

-

Yuen2016 G

CALN1

1-0632-003

chr7:
71616567-71616568

CT

C

intronic

De novo

-

Yuen2017 G

CALN1

2-1397-003

chr7:
71997022-71997022

C

T

intergenic

De novo

-

Yuen2017 G

CALN1

AU1448301

chr7:
71842908-71842908

C

G

intronic

De novo

-

Yuen2017 G

CALN1

1-0025-004

chr7:
71673946-71673946

C

A

intronic

Paternal

-

Yuen2017 G

CALN1

1-0126-004

chr7:
71688066-71688066

C

G

intronic

De novo

-

Yuen2017 G

CALN1

AU4092302

chr7:
71701835-71701835

T

C

intronic

De novo

-

Yuen2017 G

CALN1

AU0452304

chr7:
71764275-71764275

A

T

intronic

De novo

-

Yuen2017 G

CALN1

2-1305-003

chr7:
71940668-71940668

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CALN1

2-1466-003

chr7:
71891240-71891240

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CALN1

iHART2999

chr7:
71868249-71868249

C

CGG

exonic

Maternal

frameshift insertion

NM_031468

c.105_106insCC

p.D36fs

-

Ruzzo2019 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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