Variant Results

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

1-0412-003

chr7:
82838121-82838121

A

C

intergenic

De novo

-

Yuen2017 G

PCLO

2-1729-003

chr7:
82853508-82853508

C

T

intergenic

De novo

-

Yuen2017 G

PCLO

72-0745

chr7:
82763882-82763882

G

A

exonic

Inherited

nonsynonymous SNV

NM_014510
NM_033026

c.C2984T
c.C2984T

p.P995L
p.P995L

5.713

-

Patowary2019 E

PCLO

1-0368-004

chr7:
82727956-82727956

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCLO

AU2139301

chr7:
82408973-82408973

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCLO

2-1364-003

chr7:
82658995-82658995

T

C

intronic

De novo

-

Yuen2017 G

PCLO

80001101063

chr7:
82579998-82579998

C

T

exonic

De novo

synonymous SNV

NM_014510
NM_033026

c.G9906A
c.G9906A

p.Q3302Q
p.Q3302Q

-

8.282E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCLO

1-0567-003

chr7:
82429943-82429943

C

G

intronic

De novo

-

Yuen2017 G

PCLO

2-1440-003

chr7:
82489958-82489958

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCLO

PN400590

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

PN400386

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

PN400127

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

More2023:11

chr7:
82584378-82584378

G

A

exonic

Inherited

nonsynonymous SNV

NM_014510
NM_033026

c.C5891T
c.C5891T

p.T1964M
p.T1964M

0.029

5.0E-4

More2023 G

PCLO

AU2235301

chr7:
82544917-82544917

T

C

exonic

nonsynonymous SNV

NM_014510
NM_033026

c.A12385G
c.A12385G

p.K4129E
p.K4129E

18.36

-

Zhou2022 GE

PCLO

3-0306-001

chr7:
82453709-82453709

T

A

exonic

synonymous SNV

NM_014510
NM_033026

c.A14439T
c.A14439T

p.T4813T
p.T4813T

-

Zhou2022 GE

PCLO

PN400178

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

2-1429-003

chr7:
82542330-82542330

A

T

intronic

De novo

-

Yuen2017 G

PCLO

1-0010-003

chr7:
82429943-82429943

C

G

intronic

De novo

-

Yuen2017 G

PCLO

08C72695

chr7:
82544917-82544917

T

C

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A12385G
c.A12385G

p.K4129E
p.K4129E

18.36

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCLO

5-0015-004

chr7:
82836603-82836603

C

T

intergenic

De novo

-

Yuen2017 G

PCLO

AU1742302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PCLO

AU4237304

chr7:
82691548-82691548

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCLO

2-0278-003

chr7:
82825330-82825330

T

C

intergenic

De novo

-

Yuen2017 G

PCLO

AU3692301

chr7:
82901907-82901907

G

A

intergenic

De novo

-

Yuen2017 G

PCLO

2-0242-003

chr7:
82960839-82960839

G

T

intergenic

De novo

-

Yuen2017 G

PCLO

ASP045

chr7:
82544191-82544191

T

C

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A13111G
c.A13111G

p.M4371V
p.M4371V

8.807

8.314E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCLO

PN400231

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

SP0254522

chr7:
82545810-82545810

C

T

exonic

nonsynonymous SNV

NM_014510
NM_033026

c.G11492A
c.G11492A

p.R3831H
p.R3831H

20.4

-

Zhou2022 GE

PCLO

SP0100403

chr7:
82785330-82785330

A

AG

exonic

frameshift insertion

NM_014510
NM_033026

c.626dupC
c.626dupC

p.P209fs
p.P209fs

-

Zhou2022 GE

PCLO

5-0065-003

chr7:
82430109-82430109

G

A

intronic

De novo

-

Yuen2017 G

PCLO

SP0223747

chr7:
82584914-82584914

T

A

exonic

nonsynonymous SNV

NM_014510
NM_033026

c.A5355T
c.A5355T

p.L1785F
p.L1785F

6.049

-

Zhou2022 GE

PCLO

PN400490

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

7-0106-003

chr7:
82872794-82872795

CT

C

intergenic

De novo

-

Yuen2017 G

PCLO

AU4152303

chr7:
82424202-82424202

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCLO

PN400504

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

2-0070-003

chr7:
82430599-82430599

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCLO

AU4159301

chr7:
82795386-82795386

G

T

intergenic

De novo

-

Yuen2017 G

PCLO

PN400393

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

7-0102-003

chr7:
82526914-82526914

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCLO

SP0081088

chr7:
82508599-82508599

G

T

intronic

De novo

-

Fu2022 E

PCLO

SP0042412

chr7:
82545804-82545804

T

G

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A11498C
c.A11498C

p.Y3833S
p.Y3833S

16.92

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PCLO

SP0062234

chr7:
82784423-82784423

G

A

exonic

De novo

stopgain

NM_014510
NM_033026

c.C1534T
c.C1534T

p.Q512X
p.Q512X

38.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PCLO

SP0032696

chr7:
82538248-82538248

C

T

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.G13382A
c.G13382A

p.R4461Q
p.R4461Q

16.43

8.313E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

PCLO

SP0102620

chr7:
82545390-82545390

T

A

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A11912T
c.A11912T

p.E3971V
p.E3971V

17.97

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PCLO

2-1272-003

chr7:
82771808-82771808

T

A

intronic

De novo

-

Yuen2016 G

PCLO

PN400125

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

1-0395-003

chr7:
82430143-82430143

T

C

intronic

De novo

-

Yuen2017 G

PCLO

AU4215302

chr7:
82906018-82906018

T

G

intergenic

De novo

-

Yuen2017 G

PCLO

12449.p1

chr7:
82887288-82887288

T

C

intergenic

De novo

-

Turner2016 G

PCLO

AU4246304

chr7:
82525931-82525931

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCLO

A26

chr7:
82911990-82911990

T

TTG

intergenic

De novo

-

Wu2018 G

PCLO

2-0286-004

chr7:
82937926-82937926

C

T

intergenic

De novo

-

Yuen2017 G

PCLO

1-0253-004

chr7:
82429997-82429997

T

C

intronic

De novo

-

Trost2022 G

PCLO

1-0253-004

chr7:
82430004-82430004

T

C

intronic

De novo

-

Trost2022 G

PCLO

1-0253-004

chr7:
82429985-82429985

T

C

intronic

De novo

-

Trost2022 G

PCLO

1-0253-004

chr7:
82429993-82429993

A

G

intronic

De novo

-

Trost2022 G

PCLO

5-0512-005

chr7:
82416651-82416651

C

A

intronic

De novo

-

Trost2022 G

PCLO

2-1089-003

chr7:
82914766-82914766

A

T

intergenic

De novo

-

Yuen2017 G

PCLO

PN400240

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

1-0253-004

chr7:
82429980-82429980

G

C

intronic

De novo

-

Trost2022 G

PCLO

PN400157

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

MSSNG00255-003

chr7:
82401606-82401606

C

T

intronic

De novo

-

Trost2022 G

PCLO

2-1366-003

GT

CC

intronic

De novo

-

Trost2022 G

PCLO

2-0088-003

GT

CC

intronic

De novo

-

Trost2022 G

PCLO

2-0088-003

chr7:
82430056-82430056

T

C

intronic

De novo

-

Trost2022 G

PCLO

7-0100-004

GT

CC

intronic

De novo

-

Trost2022 G

PCLO

1-0253-004

chr7:
82430015-82430015

A

C

intronic

De novo

-

Trost2022 G

PCLO

7-0100-004

chr7:
82430056-82430056

T

C

intronic

De novo

-

Trost2022 G

PCLO

1-0253-004

chr7:
82430007-82430007

A

G

intronic

De novo

-

Trost2022 G

PCLO

1-0253-004

chr7:
82430012-82430012

A

C

intronic

De novo

-

Trost2022 G

PCLO

PN400396

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

5-0129-003

chr7:
82430073-82430074

GT

ACGCCCGG

intronic

De novo

-

Trost2022 G

PCLO

5-0009-003

chr7:
82440017-82440017

T

G

intronic

De novo

-

Trost2022 G

PCLO

2-1366-003

chr7:
82430070-82430074

ACTGT

CCCGG

intronic

De novo

-

Trost2022 G

PCLO

2-0088-003

chr7:
82430070-82430074

ACTGT

CCCGG

intronic

De novo

-

Trost2022 G

PCLO

3-0058-000

chr7:
82430066-82430066

C

T

intronic

De novo

-

Trost2022 G

PCLO

7-0100-004

chr7:
82430070-82430074

ACTGT

CCCGG

intronic

De novo

-

Trost2022 G

PCLO

3-0058-000

GT

CC

intronic

De novo

-

Trost2022 G

PCLO

2-0088-003

chr7:
82430066-82430066

C

T

intronic

De novo

-

Trost2022 G

PCLO

5-5101-003

chr7:
82494782-82494782

C

T

intronic

De novo

-

Trost2022 G

PCLO

7-0017-003A

chr7:
82495997-82495997

C

CAT

intronic

De novo

-

Trost2022 G

PCLO

MSSNG00174-003

chr7:
82480422-82480422

T

C

intronic

De novo

-

Trost2022 G

PCLO

REACH000696

chr7:
82493738-82493738

G

A

intronic

De novo

-

Trost2022 G

PCLO

1-0944-003

chr7:
82456761-82456761

A

G

intronic

De novo

-

Trost2022 G

PCLO

MT_58.3

chr7:
82459139-82459139

G

A

intronic

De novo

-

Trost2022 G

PCLO

1-0368-004

chr7:
82454673-82454673

A

C

intronic

De novo

-

Trost2022 G

PCLO

5-5171-003

chr7:
82455044-82455044

T

C

intronic

De novo

-

Trost2022 G

PCLO

2-1763-003

chr7:
82609923-82609923

C

T

intronic

De novo

-

Trost2022 G

PCLO

2-1806-003

chr7:
82610918-82610918

T

C

intronic

De novo

-

Trost2022 G

PCLO

AU055603

chr7:
82598698-82598698

G

T

intronic

De novo

-

Trost2022 G

PCLO

3-0374-000

chr7:
82606639-82606640

CT

C

intronic

De novo

-

Trost2022 G

PCLO

1-1197-003

chr7:
82536092-82536092

C

T

intronic

De novo

-

Trost2022 G

PCLO

PN400363

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

GM182936

chr7:
82583913-82583913

G

C

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.C6356G
c.C6356G

p.S2119W
p.S2119W

10.16

8.298E-6

Fu2022 E

PCLO

1-1063-003

chr7:
82539879-82539879

C

T

intronic

De novo

-

Trost2022 G

PCLO

2-0103-004

chr7:
82532147-82532147

A

T

intronic

De novo

-

Trost2022 G

PCLO

1-1197-003

chr7:
82536088-82536088

G

T

intronic

De novo

-

Trost2022 G

PCLO

1-0366-003

chr7:
82532022-82532022

G

T

exonic

De novo

synonymous SNV

NM_014510
NM_033026

c.C13473A
c.C13473A

p.I4491I
p.I4491I

-

Yuen2015 G

PCLO

PN400507

CAT

C

intronic

Unknown

-

Leblond2019 E

PCLO

2-0103-004

chr7:
82991648-82991648

G

A

intergenic

De novo

-

Trost2022 G

PCLO

JASD_Fam0158

chr7:
82544191-82544191

T

C

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A13111G
c.A13111G

p.M4371V
p.M4371V

8.807

8.314E-6

Takata2018 E

PCLO

7-0438-003

chr7:
82736326-82736326

G

T

intronic

De novo

-

Trost2022 G

PCLO

PN400241

CAT

C

intronic

Unknown

-