Variant Results

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Results for "RLF"

Variant Events: 13

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

RLF

SP0041018

chr1:
40703212-40703216

AGTTT

A

exonic

De novo

frameshift deletion

NM_012421

c.2839_2842del

p.V947fs

-

-

Antaki2022 GE
Fu2022 E

RLF

11734.p1

chr1:
40702530-40702530

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_012421

c.G2156A

p.C719Y

17.21

-

Dou2017 E
Ji2016 E
Krumm2015 E

RLF

5-0087-003

chr1:
40644086-40644088

GTT

GT

intronic

De novo

-

-

Yuen2017 G

RLF

SP0048064

chr1:
40704329-40704329

T

C

exonic

De novo

nonsynonymous SNV

NM_012421

c.T3955C

p.S1319P

17.9

-

Fu2022 E

RLF

4A588

chr1:
40656542-40656548

TCAGAAA

T

intronic

De novo

-

-

Satterstrom2020 E

RLF

AU002903

chr1:
40670752-40670752

A

G

intronic

De novo

-

-

Yuen2017 G

RLF

1-0120-003

chr1:
40684578-40684578

G

A

intronic

De novo

-

-

Yuen2017 G

RLF

SP0036733

chr1:
40706081-40706081

A

G

exonic

De novo

nonsynonymous SNV

NM_012421

c.A5707G

p.T1903A

12.66

-

Fu2022 E

RLF

2-1330-003

chr1:
40692152-40692152

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

RLF

14370.p1

chr1:
40693777-40693777

T

C

intronic

De novo

-

-

Turner2016 G

RLF

14370.p1

chr1:
40693786-40693786

A

G

intronic

De novo

-

-

Turner2016 G

RLF

13874.p1

chr1:
40662985-40662985

A

T

intronic

De novo

-

-

Turner2016 G

RLF

14370.p1

chr1:
40693775-40693775

G

A

intronic

De novo

-

-

Turner2016 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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