Variant Results

C

T

exonic

Unknown

nonsynonymous SNV

NM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.C425T
c.C446T
c.C428T
c.C506T
c.C506T
c.C506T
c.C590T
c.C590T
c.C590T

p.S142F
p.S149F
p.S143F
p.S169F
p.S169F
p.S169F
p.S197F
p.S197F
p.S197F

32.0

Leblond2019 E

CACNB2

2-1422-003

chr10:
18567088-18567088

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

mAGRE4353

chr10:
18787283-18787283

G

A

splicing

Paternal

splicing

25.4

-

Cirnigliaro2023 G

CACNB2

AU031004

chr10:
18771494-18771494

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

5-0018-003

chr10:
18815883-18815885

TCA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

AU1521301

chr10:
18629052-18629052

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

1-0068-003

chr10:
18733304-18733304

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

2-1297-003

chr10:
18752517-18752517

T

TTG

intronic

De novo

-

Yuen2017 G

CACNB2

3-0437-000

chr10:
18552526-18552526

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G

CACNB2

2-1330-003

chr10:
18583153-18583153

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CACNB2

PN400524

C

T

exonic

Unknown

nonsynonymous SNV

NM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.C425T
c.C446T
c.C428T
c.C506T
c.C506T
c.C506T
c.C590T
c.C590T
c.C590T

p.S142F
p.S149F
p.S143F
p.S169F
p.S169F
p.S169F
p.S197F
p.S197F
p.S197F

32.0

Leblond2019 E

CACNB2

1-0627-007

chr10:
18724357-18724357

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

AU3730301

chr10:
18613708-18613708

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

2-0223-003

chr10:
18429670-18429670

T

A

exonic

De novo

nonsynonymous SNV

NM_201593
NM_201596
NM_201597

c.T5A
c.T5A
c.T5A

p.V2D
p.V2D
p.V2D

9.248

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

CACNB2

AU4286302

chr10:
18547447-18547447

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

SP0019174

chr10:
18550257-18550257

A

G

intronic

De novo

-

4.804E-5

Fu2022 E
Trost2022 G

CACNB2

PN400157

G

A

exonic

Unknown

nonsynonymous SNV

NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.G125A
c.G125A
c.G125A
c.G209A
c.G209A
c.G209A

p.R42H
p.R42H
p.R42H
p.R70H
p.R70H
p.R70H

20.2

Leblond2019 E

CACNB2

PN400412

C

T

exonic

Unknown

nonsynonymous SNV

NM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.C425T
c.C446T
c.C428T
c.C506T
c.C506T
c.C506T
c.C590T
c.C590T
c.C590T

p.S142F
p.S149F
p.S143F
p.S169F
p.S169F
p.S169F
p.S197F
p.S197F
p.S197F

32.0

Leblond2019 E

CACNB2

3-0207-000

chr10:
18440612-18440612

A

G

intronic

De novo

-

Trost2022 G

CACNB2

1-0112-004

chr10:
18599261-18599261

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

SP0009621

chr10:
18429554-18429554

C

T

upstream

De novo

-

Fu2022 E

CACNB2

MSSNG00419-003

chr10:
18510068-18510068

A

T

intronic

De novo

-

Trost2022 G

CACNB2

MSSNG00029-004

chr10:
18525919-18525919

C

A

intronic

De novo

-

Trost2022 G

CACNB2

4-0054-003

chr10:
18497690-18497693

TACT

CAGGA

intronic

De novo

-

Trost2022 G

CACNB2

PN400178

G

A

exonic

Unknown

nonsynonymous SNV

NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.G125A
c.G125A
c.G125A
c.G209A
c.G209A
c.G209A

p.R42H
p.R42H
p.R42H
p.R70H
p.R70H
p.R70H

20.2

Leblond2019 E

CACNB2

MSSNG00392-003

chr10:
18508815-18508815

A

G

intronic

De novo

-

Trost2022 G

CACNB2

1-0951-003

chr10:
18475111-18475111

G

A

intronic

De novo

-

Trost2022 G

CACNB2

7-0413-003

chr10:
18493103-18493103

C

T

intronic

De novo

-

Trost2022 G

CACNB2

2-0142-003

chr10:
18501636-18501636

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

REACH000194

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

CACNB2

T2T9E-01

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

CACNB2

7-0331-003

chr10:
18616521-18616521

T

G

intronic

De novo

-

Trost2022 G

CACNB2

L7H6W_01

chr10:
18624996-18624996

G

A

intronic

De novo

-

Trost2022 G

CACNB2

7-0328-003

chr10:
18609522-18609522

T

TA

intronic

De novo

-

Trost2022 G

CACNB2

7-0420-003

chr10:
18616100-18616100

T

C

intronic

De novo

-

Trost2022 G

CACNB2

1-0980-003

chr10:
18591623-18591623

A

G

intronic

De novo

-

Trost2022 G

CACNB2

7-0395-003

chr10:
18592866-18592866

C

A

intronic

De novo

-

Trost2022 G

CACNB2

2-0012-003

chr10:
18545709-18545710

AA

CAGAC

intronic

De novo

-

Trost2022 G

CACNB2

SP0147414

chr10:
18549512-18549512

A

C

intronic

De novo

-

Trost2022 G

CACNB2

MSSNG00033-003

chr10:
18684301-18684301

A

G

intronic

De novo

-

Trost2022 G

CACNB2

SP0028473

chr10:
18827217-18827217

C

T

exonic

nonsynonymous SNV

NM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.C1246T
c.C1267T
c.C1249T
c.C1213T
c.C1327T
c.C1255T
c.C1297T
c.C1411T
c.C1339T

p.L416F
p.L423F
p.L417F
p.L405F
p.L443F
p.L419F
p.L433F
p.L471F
p.L447F

18.7

-

Zhou2022 GE

CACNB2

SP0051296

chr10:
18689587-18689587

C

A

UTR5

De novo

-

Trost2022 G

CACNB2

2-1734-004

chr10:
18651939-18651939

C

T

intronic

De novo

-

Trost2022 G

CACNB2

PN400190

G

A

exonic

Unknown

nonsynonymous SNV

NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.G125A
c.G125A
c.G125A
c.G209A
c.G209A
c.G209A

p.R42H
p.R42H
p.R42H
p.R70H
p.R70H
p.R70H

20.2

Leblond2019 E

CACNB2

10-0007-003

chr10:
18661843-18661843

C

A

intronic

De novo

-

Trost2022 G

CACNB2

7-0459-003

chr10:
18641152-18641152

C

G

intronic

De novo

-

Trost2022 G

CACNB2

MSSNG00199-003

chr10:
18645596-18645596

A

G

intronic

De novo

-

Trost2022 G

CACNB2

2-1741-003

chr10:
18698105-18698105

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

SP0112807

chr10:
18439814-18439814

A

G

exonic

synonymous SNV

NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.A39G
c.A39G
c.A39G
c.A123G
c.A123G
c.A123G

p.S13S
p.S13S
p.S13S
p.S41S
p.S41S
p.S41S

-

1.207E-5

Zhou2022 GE

CACNB2

1-0859-003

chr10:
18634993-18634993

T

C

intronic

De novo

-

Trost2022 G

CACNB2

2-1066-003

chr10:
18545734-18545734

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

5-5233-003

chr10:
18639854-18639854

G

A

intronic

De novo

-

Trost2022 G

CACNB2

2-1297-004

chr10:
18788612-18788616

GCACT

AAAAG

intronic

De novo

-

Trost2022 G

CACNB2

1-0714-003

chr10:
18764218-18764218

T

G

intronic

De novo

-

Trost2022 G

CACNB2

PN400521

C

T

exonic

Unknown

nonsynonymous SNV

NM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.C425T
c.C446T
c.C428T
c.C506T
c.C506T
c.C506T
c.C590T
c.C590T
c.C590T

p.S142F
p.S149F
p.S143F
p.S169F
p.S169F
p.S169F
p.S197F
p.S197F
p.S197F

32.0

Leblond2019 E

CACNB2

2-1297-004

chr10:
18788607-18788609

TCC

AAA

intronic

De novo

-

Trost2022 G

CACNB2

5-5126-003

chr10:
18735949-18735949

G

A

intronic

De novo

-

Trost2022 G

CACNB2

3-0117-000

chr10:
18754664-18754664

G

A

intronic

De novo

-

Trost2022 G

CACNB2

1-0299-003

chr10:
18471031-18471031

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

Viggiano2022:103.3

chr10:
18803206-18803206

G

C

exonic

Maternal

nonsynonymous SNV

NM_000724
NM_201570
NM_201590
NM_201571
NM_201596

c.G547C
c.G568C
c.G550C
c.G628C
c.G712C

p.D183H
p.D190H
p.D184H
p.D210H
p.D238H

23.2

-

Viggiano2022 GT

CACNB2

Viggiano2022:109.3

chr10:
18827163-18827163

C

T

exonic

Maternal

nonsynonymous SNV

NM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.C1192T
c.C1213T
c.C1195T
c.C1159T
c.C1273T
c.C1201T
c.C1243T
c.C1357T
c.C1285T

p.L398F
p.L405F
p.L399F
p.L387F
p.L425F
p.L401F
p.L415F
p.L453F
p.L429F

22.2

2.0E-4

Viggiano2022 GT

CACNB2

Viggiano2022:109.3

chr10:
18803444-18803444

G

T

exonic

Maternal

nonsynonymous SNV

NM_001167945
NM_201593

c.G591T
c.G675T

p.K197N
p.K225N

13.48

2.0E-4

Viggiano2022 GT

CACNB2

AU2427303

chr10:
18793634-18793634

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNB2

Viggiano2022:56.3

chr10:
18828487-18828487

G

C

exonic

Paternal

nonsynonymous SNV

NM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.G1652C
c.G1673C
c.G1655C
c.G1619C
c.G1733C
c.G1661C
c.G1703C
c.G1817C
c.G1745C

p.R551P
p.R558P
p.R552P
p.R540P
p.R578P
p.R554P
p.R568P
p.R606P
p.R582P

15.91

2.0E-4

Viggiano2022 GT

CACNB2

PN400113

G

A

exonic

Unknown

nonsynonymous SNV

NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597

c.G125A
c.G125A
c.G125A
c.G209A
c.G209A
c.G209A

p.R42H
p.R42H
p.R42H
p.R70H
p.R70H
p.R70H

20.2