Variant Results

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or

Results for "IL20RA"

Variant Events: 21

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

IL20RA

2-1327-004

chr6:
137438431-137438431

G

GTGTGCA

intergenic

De novo

-

-

Yuen2017 G

IL20RA

3-0469-000

chr6:
137433595-137433595

T

G

intergenic

De novo

-

-

Yuen2017 G

IL20RA

1-0484-003

chr6:
137438413-137438413

T

TGCATATGTGGTGC

intergenic

De novo

-

-

Yuen2017 G

IL20RA

14090.p1

chr6:
137325877-137325877

C

G

exonic

De novo

nonsynonymous SNV

NM_001278723
NM_001278724
NM_001278722
NM_014432

c.G412C
c.G346C
c.G598C
c.G745C

p.A138P
p.A116P
p.A200P
p.A249P

19.11

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

IL20RA

1-0285-003

chr6:
137327193-137327194

CA

C

intronic

De novo

-

-

Trost2022 G

IL20RA

1-0291-003

chr6:
137349243-137349243

G

C

intronic

De novo

-

-

Trost2022 G

IL20RA

7-0058-003

chr6:
137438386-137438386

A

G

intergenic

De novo

-

-

Yuen2017 G

IL20RA

3-0134-000

chr6:
137378962-137378962

G

A

intergenic

De novo

-

-

Yuen2017 G

IL20RA

AU2410302

chr6:
137330327-137330327

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IL20RA

SP0009479

chr6:
137329685-137329685

T

C

intronic

De novo

-

Fu2022 E

IL20RA

13951.p1

chr6:
137331460-137331460

G

A

intronic

De novo

-

-

Turner2016 G

IL20RA

1-0555-003

chr6:
137438436-137438436

G

GCATA

intergenic

De novo

-

-

Yuen2017 G

IL20RA

5-0018-003

chr6:
137417159-137417159

C

T

intergenic

De novo

-

-

Yuen2017 G

IL20RA

2-1619-004

chr6:
137438506-137438506

T

TG

intergenic

De novo

-

-

Yuen2017 G

IL20RA

MSSNG00369-003

chr6:
137353481-137353481

T

C

intronic

De novo

-

-

Trost2022 G

IL20RA

2-0223-003

chr6:
137438386-137438386

A

G

intergenic

De novo

-

-

Yuen2017 G

IL20RA

14090_p1

chr6:
137325877-137325877

C

G

exonic

De novo

nonsynonymous SNV

NM_001278723
NM_001278724
NM_001278722
NM_014432

c.G412C
c.G346C
c.G598C
c.G745C

p.A138P
p.A116P
p.A200P
p.A249P

19.11

-

Fu2022 E

IL20RA

AU1521301

chr6:
137327766-137327766

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IL20RA

SP0029503

chr6:
137325835-137325835

C

T

exonic

nonsynonymous SNV

NM_001278723
NM_001278724
NM_001278722
NM_014432

c.G454A
c.G388A
c.G640A
c.G787A

p.V152M
p.V130M
p.V214M
p.V263M

8.531

Zhou2022 GE

IL20RA

1-0158-003

chr6:
137426801-137426801

G

A

intergenic

De novo

-

-

Yuen2017 G

IL20RA

2-1485-004

chr6:
137438409-137438409

G

GCATA

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

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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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