Variant Results

or

Results for "RP1L1"

Variant Events: 22

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

RP1L1

14543.p1

chr8:
10469363-10469363

C

G

exonic

De novo

nonsynonymous SNV

NM_178857

c.G2245C

p.V749L

9.26

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

RP1L1

SSC12726

chr8:
10469363-10469363

C

G

exonic

De novo

nonsynonymous SNV

NM_178857

c.G2245C

p.V749L

9.26

-

Fu2022 E
Lim2017 E
Trost2022 G

RP1L1

2-1428-003

chr8:
10500359-10500359

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RP1L1

1-0551-003

chr8:
10517578-10517578

T

C

intergenic

De novo

-

Yuen2017 G

RP1L1

13580.p1

chr8:
10468734-10468734

G

A

exonic

synonymous SNV

NM_178857

c.C2874T

p.R958R

-

8.55E-6

Zhou2022 GE

RP1L1

2-1085-003

chr8:
10467547-10467547

G

A

exonic

nonsynonymous SNV

NM_178857

c.C4061T

p.A1354V

2.211

5.989E-5

Zhou2022 GE

RP1L1

11475_p1

chr8:
10468066-10468067

AG

A

exonic

De novo

frameshift deletion

NM_178857

c.3541delC

p.L1181fs

-

Fu2022 E

RP1L1

A32

chr8:
10487527-10487527

G

T

intronic

De novo

-

Wu2018 G

RP1L1

10004871007410237-C

chr8:
10466882-10466882

G

A

exonic

De novo

nonsynonymous SNV

NM_178857

c.C4726T

p.L1576F

11.93

-

Fu2022 E

RP1L1

1-0965-003

chr8:
10480545-10480545

C

T

exonic

De novo

nonsynonymous SNV

NM_178857

c.G167A

p.R56H

34.0

2.514E-5

Yuen2017 G
Zhou2022 GE

RP1L1

5901

chr8:
10466010-10466010

C

A

exonic

De novo

nonsynonymous SNV

NM_178857

c.G5598T

p.E1866D

7.889

2.0E-4

Fu2022 E

RP1L1

10C102633A

chr8:
10464932-10464932

C

G

exonic

De novo

nonsynonymous SNV

NM_178857

c.G6676C

p.E2226Q

1.3

-

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

RP1L1

AC01-0061-01

chr8:
10468390-10468390

C

T

exonic

De novo

nonsynonymous SNV

NM_178857

c.G3218A

p.R1073Q

10.09

9.388E-5

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

RP1L1

7-0161-003

chr8:
10495787-10495787

G

T

intronic

De novo

-

Yuen2017 G

RP1L1

SP0140164

chr8:
10480302-10480302

T

G

exonic

De novo

nonsynonymous SNV

NM_178857

c.A410C

p.E137A

16.83

-

Fu2022 E
Zhou2022 GE

RP1L1

11152.p1

chr8:
10467580-10467580

T

G

exonic

De novo

nonsynonymous SNV

NM_178857

c.A4028C

p.E1343A

0.992

-

Iossifov2014 E
Kosmicki2017 E

RP1L1

7-0080-003

chr8:
10511325-10511325

A

C

intronic

De novo

-

Yuen2017 G

RP1L1

TRE_2408

chr8:
10467601-10467601

A

C

exonic

De novo

nonsynonymous SNV

NM_178857

c.T4007G

p.V1336G

2.122

-

Fu2022 E

RP1L1

11475.p1

chr8:
10468066-10468067

AG

A

exonic

De novo

frameshift deletion

NM_178857

c.3541delC

p.L1181fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RP1L1

1-0186-004

chr8:
10506715-10506715

A

T

intronic

De novo

-

Yuen2017 G

RP1L1

AU2002301

chr8:
10466981-10466981

C

G

exonic

De novo

nonsynonymous SNV

NM_178857

c.G4627C

p.A1543P

9.591

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RP1L1

SP0093984

chr8:
10480514-10480514

G

A

exonic

De novo

synonymous SNV

NM_178857

c.C198T

p.D66D

-

1.0E-4

Fu2022 E
Zhou2022 GE

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
	More