Variant Results

or

or

Results for "BBS9"

Variant Events: 94

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

BBS9

AU2333302

chr7:
33602341-33602343

TCC

TC

intronic

De novo

-

-

Yuen2017 G

BBS9

1-0541-003

chr7:
33183259-33183259

C

G

intronic

De novo

-

-

Yuen2017 G

BBS9

1-0708-003

chr7:
33645040-33645040

C

T

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

AU024607

chr7:
33574432-33574432

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

1-0377-003

chr7:
33923210-33923210

C

A

intergenic

De novo

-

-

Yuen2017 G

BBS9

5-0099-003

chr7:
33614395-33614395

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

5-0003-004

chr7:
33634373-33634373

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

1-0559-004

chr7:
33510134-33510134

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

SP0061965

chr7:
33545202-33545202

A

G

exonic

De novo

nonsynonymous SNV

NM_014451
NM_001033604
NM_001033605
NM_198428

c.A2123G
c.A2138G
c.A2228G
c.A2243G

p.Q708R
p.Q713R
p.Q743R
p.Q748R

18.53

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BBS9

SP0081836

chr7:
33217156-33217156

A

G

exonic

De novo

nonsynonymous SNV

NM_001033604
NM_001033605
NM_014451
NM_198428

c.A395G
c.A395G
c.A395G
c.A395G

p.Q132R
p.Q132R
p.Q132R
p.Q132R

28.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BBS9

AU3713302

chr7:
33622705-33622705

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

2-1425-004

chr7:
33836719-33836719

C

T

intergenic

Paternal

-

-

Yuen2017 G

BBS9

5-0054-003

chr7:
33427205-33427205

G

T

intronic

De novo

-

-

Yuen2017 G

BBS9

2-1507-003

chr7:
33712404-33712404

A

C

intergenic

De novo

-

-

Yuen2017 G

BBS9

5907

chr7:
33376045-33376045

T

C

intronic

De novo

-

-

Fu2022 E

BBS9

5-0064-003

chr7:
33850555-33850555

G

C

intergenic

De novo

-

-

Yuen2017 G

BBS9

5-0129-003

chr7:
33183239-33183240

AT

GG

intronic

De novo

-

-

Trost2022 G

BBS9

1-0458-003

chr7:
33183239-33183240

AT

GG

intronic

De novo

-

-

Trost2022 G

BBS9

2-1296-003

chr7:
33941100-33941100

C

G

intergenic

De novo

-

-

Yuen2017 G

BBS9

2-1302-003

chr7:
33181551-33181551

C

CT

intronic

De novo

-

-

Trost2022 G

BBS9

4-0010-003

chr7:
33183327-33183329

ACT

GCC

intronic

De novo

-

-

Trost2022 G

BBS9

9-0011-003

chr7:
33183329-33183329

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

1-0541-004

chr7:
33183246-33183246

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

1-0158-003

chr7:
33183246-33183246

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

5-0129-003

chr7:
33183246-33183246

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

1-0458-003

chr7:
33183246-33183246

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

AU2123302

chr7:
33384202-33384202

G

A

exonic

De novo

nonsynonymous SNV

NM_001033604
NM_001033605
NM_014451
NM_198428

c.G1285A
c.G1285A
c.G1285A
c.G1285A

p.D429N
p.D429N
p.D429N
p.D429N

7.906

Trost2022 G
Yuen2017 G
Zhou2022 GE

BBS9

5-0129-003

chr7:
33183243-33183243

C

T

intronic

De novo

-

-

Trost2022 G

BBS9

1-0458-003

chr7:
33183243-33183243

C

T

intronic

De novo

-

-

Trost2022 G

BBS9

1-0458-003

chr7:
33183337-33183337

C

TCATT

intronic

De novo

-

-

Trost2022 G

BBS9

1-0051-005

chr7:
33183338-33183338

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

9-0011-003

chr7:
33183332-33183332

C

T

intronic

De novo

-

-

Trost2022 G

BBS9

1-0458-003

chr7:
33183333-33183334

AT

CA

intronic

De novo

-

-

Trost2022 G

BBS9

2-1540-003

chr7:
33183332-33183332

C

T

intronic

De novo

-

-

Trost2022 G

BBS9

2-1425-003

chr7:
33836719-33836719

C

T

intergenic

Paternal

-

-

Yuen2017 G

BBS9

2-0132-004

chr7:
33183332-33183332

C

T

intronic

De novo

-

-

Trost2022 G

BBS9

1-0051-005

chr7:
33183332-33183332

C

T

intronic

De novo

-

-

Trost2022 G

BBS9

4-0010-003

chr7:
33183332-33183332

C

T

intronic

De novo

-

-

Trost2022 G

BBS9

1-0539-003

chr7:
33183454-33183457

AGTA

GGCG

intronic

De novo

-

-

Trost2022 G

BBS9

MSSNG00375-003

chr7:
33188653-33188653

G

C

intronic

De novo

-

-

Trost2022 G

BBS9

1-0051-005

chr7:
33183454-33183457

AGTA

GGCG

intronic

De novo

-

-

Trost2022 G

BBS9

2-1402-003

chr7:
33617045-33617045

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

5-0084-003

chr7:
33183454-33183457

AGTA

GGCG

intronic

De novo

-

-

Trost2022 G

BBS9

2-0132-004

chr7:
33183338-33183338

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

2-1184-003

chr7:
33511491-33511491

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

BBS9

9-0011-003

chr7:
33183338-33183338

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

4-0010-003

chr7:
33183338-33183338

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

AU045512

chr7:
33232515-33232515

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

2-1540-003

chr7:
33183338-33183338

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

MSSNG00436-003

chr7:
33352705-33352705

G

C

intronic

De novo

-

-

Trost2022 G

BBS9

3-0287-000

chr7:
33359955-33359955

T

G

intronic

De novo

-

-

Trost2022 G

BBS9

AU2250301

chr7:
33311355-33311355

G

A

intronic

De novo

-

-

Trost2022 G

BBS9

4-0056-003

chr7:
33352116-33352116

A

G

intronic

De novo

-

-

Trost2022 G

BBS9

AU4067303

chr7:
33584929-33584929

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

REACH000229

chr7:
33270789-33270789

C

G

intronic

De novo

-

-

Trost2022 G

BBS9

4-0014-003

chr7:
33274108-33274108

G

C

intronic

De novo

-

-

Trost2022 G

BBS9

7-0232-003

chr7:
33195313-33195313

A

CC

exonic

De novo

frameshift substitution

NM_001033604
NM_001033605
NM_014451
NM_198428

c.327_327delinsCC
c.327_327delinsCC
c.327_327delinsCC
c.327_327delinsCC

N/A
N/A
N/A
N/A

-

-

Trost2022 G

BBS9

2-1788-003

chr7:
33231381-33231381

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

3-0742-000

chr7:
33459564-33459564

A

G

intronic

De novo

-

-

Trost2022 G

BBS9

1-0067-005

chr7:
33488120-33488120

A

C

intronic

De novo

-

-

Trost2022 G

BBS9

AU4260303

chr7:
33381749-33381749

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

4-0064-003

chr7:
33431691-33431691

A

C

intronic

De novo

-

-

Trost2022 G

BBS9

3-0091-000

chr7:
33450853-33450853

C

G

intronic

De novo

-

-

Trost2022 G

BBS9

SJD_50.5

chr7:
33380970-33380970

G

T

intronic

De novo

-

-

Trost2022 G

BBS9

4-0064-003

chr7:
33392133-33392133

T

A

intronic

De novo

-

-

Trost2022 G

BBS9

D4S2Z-01

chr7:
33368719-33368719

G

A

intronic

De novo

-

-

Trost2022 G

BBS9

2-1350-004

chr7:
33375158-33375158

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

5-0049-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G

BBS9

SJD_10.3

chr7:
33632285-33632285

T

C

intronic

De novo

-

-

Trost2022 G

BBS9

AU075803

chr7:
33412447-33412447

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

AU3955303

chr7:
33943455-33943455

G

A

intergenic

De novo

-

-

Yuen2017 G

BBS9

MSSNG00127-004

chr7:
33644615-33644615

G

A

intronic

De novo

-

Trost2022 G

BBS9

1-1131-003

chr7:
33628677-33628677

G

A

intronic

De novo

-

-

Trost2022 G

BBS9

2-1723-003

chr7:
33631251-33631253

CTC

TGT

intronic

De novo

-

-

Trost2022 G

BBS9

AU3727302

chr7:
33567233-33567233

A

G

intronic

De novo

-

-

Trost2022 G

BBS9

MSSNG00021-004

chr7:
33624498-33624498

T

A

intronic

De novo

-

-

Trost2022 G

BBS9

1-0560-003

chr7:
33935392-33935392

T

C

intergenic

De novo

-

-

Yuen2017 G

BBS9

AU2571301

chr7:
33506540-33506540

G

A

intronic

De novo

-

-

Trost2022 G

BBS9

11491.p1

chr7:
33376045-33376045

T

C

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BBS9

1-1100-003

chr7:
33543260-33543260

A

G

intronic

De novo

-

-

Trost2022 G

BBS9

2-1186-003

chr7:
33315613-33315613

C

A

intronic

De novo

-

-

Yuen2016 G

BBS9

2-1186-003

chr7:
33939618-33939618

A

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

BBS9

2-0210-004

chr7:
33763881-33763881

C

T

intergenic

De novo

-

-

Yuen2017 G

BBS9

AU2381302

chr7:
33455424-33455424

G

A

intronic

De novo

-

-

Yuen2017 G

BBS9

11572.p1

chr7:
33846384-33846384

C

T

intergenic

De novo

-

-

Turner2016 G

BBS9

12568.p1

chr7:
33914698-33914698

G

A

intergenic

De novo

-

-

Turner2016 G

BBS9

2-1715-003

chr7:
33453492-33453492

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

1-0677-003

chr7:
33597949-33597949

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

1-0553-003

chr7:
33404811-33404811

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

2-0214-003

chr7:
33618854-33618854

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

7-0250-003

chr7:
33476067-33476067

A

G

intronic

De novo

-

-

Yuen2017 G

BBS9

5-0109-003

chr7:
33206470-33206470

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

3-0185-000

chr7:
33496262-33496262

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BBS9

2-0063-005

chr7:
33253106-33253106

A

T

intronic

De novo

-

-

Trost2022 G
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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