Variant Results

or

or

Results for "SKI"

Variant Events: 27

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

SKI

1-0219-003

chr1:
2172553-2172553

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SKI

ASC_11394-1

chr1:
2237627-2237627

C

T

exonic

De novo

stopgain

NM_003036

c.C1936T

p.Q646X

39.0

-

Fu2022 E

SKI

Hu2022:36

chr1:
2161179-2161179

G

C

intronic

De novo

-

-

Hu2022 T

SKI

REACH000559

chr1:
2214309-2214309

G

A

intronic

De novo

-

-

Trost2022 G

SKI

5-5233-003

chr1:
2210578-2210578

C

T

intronic

De novo

-

-

Trost2022 G

SKI

08C78919

chr1:
2234766-2234766

C

T

exonic

De novo

stopgain

NM_003036

c.C1138T

p.R380X

37.0

-

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

SKI

SP0171013

chr1:
2237577-2237577

A

G

exonic

De novo

nonsynonymous SNV

NM_003036

c.A1886G

p.E629G

21.9

-

Trost2022 G

SKI

MT_99.3

chr1:
2236757-2236757

C

T

intronic

De novo

-

-

Trost2022 G

SKI

7-0080-003

chr1:
2210987-2210987

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SKI

AU2320301

chr1:
2166382-2166382

G

C

intronic

De novo

-

-

Trost2022 G

SKI

SP0049937

chr1:
2237704-2237704

A

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

SKI

7-0332-003

chr1:
2191816-2191816

C

T

intronic

De novo

-

-

Trost2022 G

SKI

2-1692-003

chr1:
2185115-2185115

C

T

intronic

De novo

-

-

Trost2022 G

SKI

2-1333-003

chr1:
2245855-2245884

GGCCCCGGCCTGTCCCCGGCCCTGGCGCTG

GG

intergenic

De novo

-

-

Yuen2017 G

SKI

7-0141-003

chr1:
2234931-2234931

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SKI

SP0042251

chr1:
2237577-2237577

A

C

exonic

De novo

nonsynonymous SNV

NM_003036

c.A1886C

p.E629A

21.1

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SKI

ASC_CA_183_A

chr1:
2238195-2238200

GGAGCC

G

exonic

De novo

frameshift deletion

NM_003036

c.2179_2183del

p.E727fs

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SKI

SP0070786

chr1:
2237557-2237557

G

GA

exonic

De novo

frameshift insertion

NM_003036

c.1867dupA

p.E622fs

-

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SKI

1-0541-003

chr1:
2181430-2181430

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SKI

SP0352840

chr1:
2235390-2235398

GGCCCCCGA

G

exonic

frameshift deletion

NM_003036

c.1324_1331del

p.A442fs

-

-

Zhou2022 GE

SKI

AU4473301

chr1:
2223294-2223294

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SKI

1-0567-003

chr1:
2202962-2202962

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SKI

2-0003-004

chr1:
2221058-2221058

G

A

intronic

De novo

-

-

Yuen2017 G

SKI

SP0018861

chr1:
2235389-2235389

G

C

exonic

nonsynonymous SNV

NM_003036

c.G1322C

p.R441P

15.09

-

Zhou2022 GE

SKI

1-0300-003

chr1:
2234752-2234752

G

A

exonic

De novo

nonsynonymous SNV

NM_003036

c.G1124A

p.R375H

22.5

Trost2022 G
Yuen2017 G
Zhou2022 GE

SKI

A16

chr1:
2227836-2227840

AAAAC

A

intronic

De novo

-

-

Wu2018 G

SKI

2-1166-003

chr1:
2173857-2173857

G

A

intronic

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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