Variant Results

or

Results for "CALN1"

Variant Events: 105

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

2-1355-004

chr7:
71525325-71525325

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0286-004

chr7:
71907817-71907817

G

GCACTTTATGTAGGGTTGCA

intergenic

De novo

-

Trost2022 G
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

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

1-0150-004

chr7:
71380383-71380383

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

2-1308-003

chr7:
71773550-71773550

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CALN1

1-0567-003

chr7:
71319276-71319276

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0025-006

chr7:
71673946-71673946

C

A

intronic

Paternal, De novo

-

Trost2022 G
Yuen2017 G

CALN1

mAGRE2999

chr7:
71868249-71868249

C

CGG

exonic

Maternal

frameshift insertion

NM_031468

c.105_106insCC

p.D36fs

-

Cirnigliaro2023 G

CALN1

5-0138-003

chr7:
71731769-71731769

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0901-004

chr7:
71626582-71626582

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0160-004

chr7:
71839612-71839612

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

2-1288-003

chr7:
71394972-71394972

G

A

intronic

De novo

-

Trost2022 G
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

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CALN1

2-1721-003

chr7:
71312372-71312372

C

T

intronic

De novo

-

Trost2022 G
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

-

Trost2022 G
Yuen2017 G

CALN1

SP0041462

chr7:
71488635-71488635

T

C

intronic

De novo

-

Trost2022 G
Zhou2022 GE

CALN1

2-1277-004

chr7:
71318709-71318710

TG

GGCC

intronic

De novo

-

Trost2022 G

CALN1

3-0436-000

chr7:
71374017-71374017

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CALN1

2-1277-004

chr7:
71318713-71318714

TG

CC

intronic

De novo

-

Trost2022 G

CALN1

AU4410302

chr7:
71786418-71786418

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

7-0150-003

chr7:
71312456-71312458

GAA

G

intronic

De novo

-

Trost2022 G

CALN1

1-1010-003

chr7:
71315063-71315063

G

A

intronic

De novo

-

Trost2022 G

CALN1

4-0074-003

chr7:
71299181-71299181

T

C

intronic

De novo

-

Trost2022 G

CALN1

P6Q4Z_01

chr7:
71305490-71305490

A

G

intronic

De novo

-

Trost2022 G

CALN1

4-0108-003

chr7:
71254579-71254579

C

T

intronic

De novo

-

Trost2022 G

CALN1

MSSNG00410-003

chr7:
71438543-71438543

C

T

intronic

De novo

-

Trost2022 G

CALN1

AU2729301

chr7:
71449377-71449377

C

T

intronic

De novo

-

Trost2022 G

CALN1

MT_167.3

chr7:
71380498-71380498

C

T

intronic

De novo

-

Trost2022 G

CALN1

AU0636303

chr7:
71436966-71436966

G

A

intronic

De novo

-

Trost2022 G

CALN1

MSSNG00399-003

chr7:
71330725-71330725

G

T

intronic

De novo

-

Trost2022 G

CALN1

MSSNG00196-003

chr7:
71331653-71331653

G

C

intronic

De novo

-

Trost2022 G

CALN1

2-1277-004

chr7:
71318720-71318722

ACA

GCT

intronic

De novo

-

Trost2022 G

CALN1

2-1277-004

chr7:
71318730-71318733

AATT

CAGC

intronic

De novo

-

Trost2022 G

CALN1

7-0335-003

chr7:
71554757-71554757

A

G

intronic

De novo

-

Trost2022 G

CALN1

REACH000141

chr7:
71576753-71576753

G

A

intronic

De novo

-

Trost2022 G

CALN1

2-1169-004

chr7:
71524966-71524966

T

TACCACCAA

intronic

De novo

-

Trost2022 G

CALN1

7-0402-003

chr7:
71527221-71527221

T

A

intronic

De novo

-

Trost2022 G

CALN1

REACH000171

chr7:
71503062-71503062

T

C

intronic

De novo

-

Trost2022 G

CALN1

14143.p1

chr7:
71252912-71252912

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CALN1

MSSNG00227-003

chr7:
71520274-71520274

C

A

intronic

De novo

-

Trost2022 G

CALN1

2-1644-003

chr7:
71866925-71866925

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

AU3053302

chr7:
71810016-71810018

CAT

C

intronic

De novo

-

Yuen2017 G

CALN1

3-0352-000

chr7:
71478013-71478013

C

T

intronic

De novo

-

Trost2022 G

CALN1

1-1197-003

chr7:
71498597-71498597

G

C

intronic

De novo

-

Trost2022 G

CALN1

2-0309-005

chr7:
71605403-71605403

A

C

intronic

De novo

-

Trost2022 G

CALN1

2-0210-005

chr7:
71605403-71605403

A

C

intronic

De novo

-

Trost2022 G

CALN1

2-0309-005

chr7:
71605400-71605400

C

A

intronic

De novo

-

Trost2022 G

CALN1

2-0210-005

chr7:
71605400-71605400

C

A

intronic

De novo

-

Trost2022 G

CALN1

AU1542301

chr7:
71557416-71557416

C

T

intronic

De novo

-

Yuen2017 G

CALN1

1-0887-003

chr7:
71601051-71601051

C

T

intronic

De novo

-

Trost2022 G

CALN1

3-0439-000

chr7:
71657040-71657040

C

T

intronic

De novo

-

Yuen2016 G

CALN1

1-0887-003

chr7:
71601600-71601600

G

T

intronic

De novo

-

Trost2022 G

CALN1

AU2288301

chr7:
71577059-71577059

T

G

intronic

De novo

-

Trost2022 G

CALN1

2-1397-003

chr7:
71997022-71997022

C

T

intergenic

De novo

-

Yuen2017 G

CALN1

1-1103-003

chr7:
71588510-71588510

C

A

intronic

De novo

-

Trost2022 G

CALN1

2-1762-003

chr7:
71727219-71727219

G

A

intronic

De novo

-

Trost2022 G

CALN1

MSSNG00352-003

chr7:
71738227-71738227

G

A

intronic

De novo

-

Trost2022 G

CALN1

1-1129-003

chr7:
71716018-71716018

T

C

intronic

De novo

-

Trost2022 G

CALN1

REACH000435

chr7:
71719736-71719740

CATAA

C

intronic

De novo

-

Trost2022 G

CALN1

SJD_3.3

chr7:
71660924-71660924

A

C

intronic

De novo

-

Trost2022 G

CALN1

MSSNG00043-003

chr7:
71673572-71673572

T

C

intronic

De novo

-

Trost2022 G

CALN1

5-2015-003

chr7:
71607302-71607302

G

C

intronic

De novo

-

Trost2022 G

CALN1

1-0465-003A

chr7:
71625643-71625643

T

C

intronic

De novo

-

Trost2022 G

CALN1

7-0240-003

chr7:
71805722-71805722

T

C

intronic

De novo

-

Trost2022 G

CALN1

AU4092302

chr7:
71701835-71701835

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

MSSNG00434-003

chr7:
71806868-71806868

A

G

intronic

De novo

-

Trost2022 G

CALN1

2-1749-003

chr7:
71786486-71786486

G

A

intronic

De novo

-

Trost2022 G

CALN1

AU2216201

chr7:
71801373-71801373

G

T

intronic

De novo

-

Trost2022 G

CALN1

5-5022-003

chr7:
71768402-71768402

C

T

intronic

De novo

-

Trost2022 G

CALN1

1-0611-003

chr7:
71769669-71769669

G

A

intronic

De novo

-

Trost2022 G

CALN1

7-0365-003

chr7:
71749650-71749650

A

C

intronic

De novo

-

Trost2022 G

CALN1

REACH000089

chr7:
71757831-71757831

T

A

intronic

De novo

-

Trost2022 G

CALN1

MSSNG00031-003

chr7:
71898738-71898738

T

C

intergenic

De novo

-

Trost2022 G

CALN1

AU0452304

chr7:
71764275-71764275

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0287-003

chr7:
71872554-71872554

T

G

intronic

De novo

-

Trost2022 G

CALN1

7-0423-003

chr7:
71890390-71890390

C

T

intergenic

De novo

-

Trost2022 G

CALN1

2-1174-005B

chr7:
71845437-71845437

G

A

intronic

De novo

-

Trost2022 G

CALN1

3-0371-000

chr7:
71862982-71862982

G

A

intronic

De novo

-

Trost2022 G

CALN1

2-1466-003

chr7:
71891240-71891240

A

G

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CALN1

7-0314-003A

chr7:
71823435-71823435

C

T

intronic

De novo

-

Trost2022 G

CALN1

1-0627-007

chr7:
71826891-71826891

C

A

intronic

De novo

-

Trost2022 G

CALN1

2-1105-003

chr7:
72028734-72028734

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CALN1

2-1510-003

chr7:
71309600-71309600

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 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

7-0179-003

chr7:
71403851-71403851

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0465-003

chr7:
71625643-71625643

T

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

ASC_CA_58_A

chr7:
71571306-71571306

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CALN1

SP0007514

chr7:
71743811-71743811

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

CALN1

AU3399302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CALN1

AU3190305

chr7:
71737747-71737747

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0632-003

chr7:
71616567-71616568

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

AU1448301

chr7:
71842908-71842908

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0025-004

chr7:
71673946-71673946

C

A

intronic

Paternal, De novo

-

Trost2022 G
Yuen2017 G

CALN1

1-0126-004

chr7:
71688066-71688066

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CALN1

2-1305-003

chr7:
71940668-71940668

T

A

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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