Variant Results

or

Results for "SALL1"

Variant Events: 40

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

SALL1

1-0296-003

chr16:
51260275-51260275

G

C

intergenic

De novo

-

Yuen2017 G

SALL1

2-1066-004

chr16:
51319412-51319412

A

AC

intergenic

De novo

-

Yuen2017 G

SALL1

2-1235-004

chr16:
51388456-51388456

T

C

intergenic

De novo

-

Yuen2017 G

SALL1

AU3190305

chr16:
51173325-51173325

C

T

exonic

De novo

synonymous SNV

NM_001127892
NM_002968

c.G2517A
c.G2808A

p.Q839Q
p.Q936Q

-

1.651E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

SALL1

SP0168810

chr16:
51174829-51174830

GC

G

exonic

De novo

frameshift deletion

NM_001127892
NM_002968

c.1012delG
c.1303delG

p.A338fs
p.A435fs

-

Trost2022 G

SALL1

5-0147-003

chr16:
51441630-51441630

G

C

intergenic

De novo

-

Yuen2017 G

SALL1

2-0304-004

chr16:
51644601-51644601

G

T

intergenic

De novo

-

Yuen2017 G

SALL1

2-1380-003

chr16:
51467708-51467708

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SALL1

AU051503

chr16:
51508362-51508362

G

C

intergenic

De novo

-

Yuen2017 G

SALL1

1-0148-005

chr16:
51372156-51372157

CA

C

intergenic

De novo

-

Yuen2017 G

SALL1

AU2140305

chr16:
51476093-51476093

A

G

intergenic

De novo

-

Yuen2017 G

SALL1

3-0458-000A

chr16:
51334779-51334793

TTGTGTGTGTGTGTG

TTGTGTGTGTGTG

intergenic

De novo

-

Yuen2017 G

SALL1

Wang2023:811

chr16:
51174121-51174121

T

C

exonic

De novo

nonsynonymous SNV

NM_001127892
NM_002968

c.A1721G
c.A2012G

p.K574R
p.K671R

18.43

-

Wang2023 E

SALL1

AU3849302

chr16:
51174770-51174770

C

T

exonic

De novo

nonsynonymous SNV

NM_001127892
NM_002968

c.G1072A
c.G1363A

p.A358T
p.A455T

24.1

1.647E-5

Yuen2017 G
Zhou2022 GE

SALL1

2-1215-003

chr16:
51447279-51447279

A

AGGAGGGT

intergenic

De novo

-

Yuen2017 G

SALL1

1-0439-003

chr16:
51403346-51403346

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SALL1

187-13717

chr16:
51175657-51175659

CTG

C

exonic

frameshift deletion

NM_001127892
NM_002968

c.183_184del
c.474_475del

p.S61fs
p.S158fs

-

5.887E-5

Callaghan2019 G

SALL1

GEA486

chr16:
51175566-51175566

G

A

exonic

De novo

synonymous SNV

NM_001127892
NM_002968

c.C276T
c.C567T

p.S92S
p.S189S

-

8.237E-6

Fu2022 E

SALL1

AU006804

chr16:
51452003-51452003

G

C

intergenic

De novo

-

Yuen2017 G

SALL1

2-0309-005

chr16:
51398967-51398967

C

T

intergenic

De novo

-

Yuen2017 G

SALL1

SMHC00811s000

chr16:
51174121-51174121

T

C

exonic

De novo

nonsynonymous SNV

NM_001127892
NM_002968

c.A1721G
c.A2012G

p.K574R
p.K671R

18.43

-

Yuan2023 E

SALL1

1-0299-004

chr16:
51761734-51761734

T

A

intergenic

De novo

-

Yuen2017 G

SALL1

SP0007992

chr16:
51172595-51172595

G

T

exonic

De novo

nonsynonymous SNV

NM_001127892
NM_002968

c.C3247A
c.C3538A

p.H1083N
p.H1180N

-

Fu2022 E
Zhou2022 GE

SALL1

SP0089039

chr16:
51185127-51185127

G

C

exonic

De novo

nonsynonymous SNV

NM_002968

c.C26G

p.P9R

15.05

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SALL1

2-0070-004

chr16:
51546012-51546012

C

T

intergenic

De novo

-

Yuen2017 G

SALL1

AU3907301

chr16:
51726228-51726228

C

T

intergenic

De novo

-

Yuen2017 G

SALL1

AU4235301

chr16:
51293554-51293554

T

G

intergenic

De novo

-

Yuen2017 G

SALL1

1-0353-003

chr16:
51738905-51738907

CAT

C

intergenic

De novo

-

Yuen2017 G

SALL1

AU4235301

chr16:
51424940-51424940

G

A

intergenic

De novo

-

Yuen2017 G

SALL1

2-1346-003

chr16:
51688922-51688922

G

C

intergenic

De novo

-

Yuen2017 G

SALL1

2-0045-003

chr16:
51401094-51401094

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SALL1

AU038204

chr16:
51379825-51379825

G

A

intergenic

De novo

-

Yuen2017 G

SALL1

AU2485305

chr16:
51481207-51481211

GAAAA

GAAAAA

intergenic

De novo

-

Yuen2017 G

SALL1

1-1000-003

chr16:
51335747-51335747

A

G

intergenic

De novo

-

Yuen2017 G

SALL1

2-1427-003

chr16:
51314798-51314798

C

T

intergenic

De novo

-

Yuen2017 G

SALL1

13649.p1

chr16:
51227601-51227601

G

A

intergenic

De novo

-

Turner2016 G

SALL1

1-0344-003

chr16:
51286133-51286133

T

A

intergenic

De novo

-

Yuen2017 G

SALL1

AU011903

chr16:
51428947-51428947

C

T

intergenic

De novo

-

Yuen2017 G

SALL1

7-0055-003

chr16:
51666107-51666107

G

A

intergenic

De novo

-

Yuen2017 G

SALL1

AU3638302

chr16:
51186261-51186261

G

A

intergenic

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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