Variant Results

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Results for "SALL3"

Variant Events: 11

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

SALL3

1-0508-003

chr18:
76743800-76743800

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SALL3

7-0374-003

chr18:
76746519-76746519

C

T

intronic

De novo

-

-

Trost2022 G

SALL3

3-0056-000

chr18:
76756242-76756242

G

A

intronic

De novo

-

-

Trost2022 G

SALL3

AU3636301

chr18:
76740891-76740891

C

G

intronic

De novo

-

-

Yuen2017 G

SALL3

SP0019174

chr18:
76752928-76752929

GC

G

exonic

De novo

frameshift deletion

NM_171999

c.938delC

p.A313fs

-

-

Trost2022 G
Zhou2022 GE

SALL3

MSSNG00247-003

chr18:
76752789-76752789

G

A

exonic

De novo

synonymous SNV

NM_171999

c.G798A

p.L266L

-

-

Trost2022 G
Zhou2022 GE

SALL3

5-0077-003

chr18:
76825548-76825548

G

A

intergenic

De novo

-

-

Yuen2017 G

SALL3

SP0045703

chr18:
76755007-76755007

G

A

exonic

De novo

nonsynonymous SNV

NM_171999

c.G3016A

p.V1006I

0.008

Fu2022 E
Trost2022 G
Zhou2022 GE

SALL3

1-0383-003

chr18:
76824350-76824350

A

T

intergenic

De novo

-

-

Yuen2017 G

SALL3

A16

chr18:
76805172-76805172

G

T

intergenic

De novo

-

-

Wu2018 G

SALL3

60-2027

chr18:
76760523-76760523

T

C

intergenic

De novo

-

-

Michaelson2012 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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