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Results for "CACNA2D3"
Variant Events: 184
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
CACNA2D3
2-0007-003
chr3:
54290015-54290015
G
GA
intronic
De novo
-
-
Yuen2017
G
CACNA2D3
1-0914-003
chr3:
55003272-55003272
T
C
intronic
De novo
-
-
Yuen2017
G
CACNA2D3
220-9950-201
chr3:
54925422-54925422
C
G
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2191G
p.R731G
19.64
-
Stessman2017
T
CACNA2D3
1-0495-003
chr3:
54823070-54823070
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
AU3076302
chr3:
54440361-54440361
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
ACGC_M23110
chr3:
54604066-54604066
G
A
exonic
Paternal
nonsynonymous SNV
NM_018398
c.G823A
p.A275T
32.0
-
Wang2020
T
CACNA2D3
AU3782302
chr3:
54305322-54305322
A
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
TASC_217-14277-4000
chr3:
54925395-54925395
G
A
exonic
Paternal
nonsynonymous SNV
NM_018398
c.G2164A
p.G722S
33.0
-
Wang2020
T
CACNA2D3
2-1645-003
chr3:
55177677-55177677
C
A
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
AU1988301
chr3:
54842645-54842645
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
1-0323-003
chr3:
54804356-54804359
AGTT
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
1-0483-004
chr3:
54170197-54170197
A
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU2089302
chr3:
54229576-54229576
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
X3N7Y_01
chr3:
54200667-54200667
T
TA
intronic
De novo
-
-
Trost2022
G
CACNA2D3
Radboud_10-10576
chr3:
54925426-54925426
C
G
exonic
De novo
nonsynonymous SNV
NM_018398
c.C2195G
p.T732R
28.9
8.293E-6
Wang2020
T
CACNA2D3
7-0388-003
chr3:
54156926-54156926
A
C
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU039305
chr3:
55305842-55305842
A
G
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
PN400369
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
1-0333-003
chr3:
54168417-54168417
C
CGATCT
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-0382-003
chr3:
55317343-55317343
T
A
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
1-0530-003
chr3:
54869192-54869192
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
CACNA2D3
7-0240-004
chr3:
54300779-54300779
C
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
MSSNG00077-005
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
CACNA2D3
4-0064-004
chr3:
54250065-54250065
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
SJD_10.3
chr3:
54274474-54274474
A
C
intronic
De novo
-
-
Trost2022
G
CACNA2D3
3-0380-002
chr3:
54223904-54223904
A
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
MSSNG00251-003
chr3:
54246554-54246554
T
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
MSSNG00153-003
chr3:
54213195-54213195
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
11625.p1
chr3:
54867617-54867617
G
GA
intronic
De novo
-
-
Werling2018
G
CACNA2D3
5-1004-003A
chr3:
54223400-54223400
C
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
MSSNG00416-003
chr3:
54437271-54437271
A
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-0853-003
chr3:
54438546-54438546
T
C
intronic
De novo
-
-
Trost2022
G
CACNA2D3
REACH000686
chr3:
54404110-54404110
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
3-0713-000
chr3:
54416003-54416003
T
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
3-0405-000
chr3:
54347335-54347335
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
3-0070-000
chr3:
54355114-54355114
A
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
MSSNG00077-005
chr3:
54320635-54320635
A
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-1011-003
chr3:
54327390-54327390
T
TC
intronic
De novo
-
-
Trost2022
G
CACNA2D3
3-0090-001
chr3:
54531759-54531759
G
GT
intronic
De novo
-
-
Trost2022
G
CACNA2D3
5-5202-003
chr3:
54548638-54548638
C
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
3-0159-000
chr3:
54504133-54504133
A
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU2310301
chr3:
54525981-54525981
C
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-0552-004
chr3:
54478456-54478456
C
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU0863301
chr3:
54925398-54925398
G
A
exonic
Unknown
nonsynonymous SNV
NM_018398
c.G2167A
p.V723M
23.7
1.658E-5
Stessman2017
T
CACNA2D3
1-0183-004
chr3:
54500256-54500256
C
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU3632301
chr3:
54166814-54166814
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
1-0634-003
chr3:
54463056-54463056
G
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
3-0432-000
chr3:
55058628-55058628
G
T
intronic
De novo
-
-
Yuen2017
G
CACNA2D3
MSSNG00434-003
chr3:
54465107-54465107
T
C
intronic
De novo
-
-
Trost2022
G
CACNA2D3
ACGC_M8584
chr3:
54604055-54604055
G
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.G812T
p.R271L
21.4
-
Wang2020
T
CACNA2D3
5-0066-003
chr3:
54651128-54651130
CAT
C
intronic
De novo
-
-
Trost2022
G
CACNA2D3
SD0023.p1
chr3:
54850898-54850898
G
A
splicing
Maternal
splicing
21.9
-
Guo2018
T
CACNA2D3
ACGC_M8755
chr3:
54537564-54537564
G
A
exonic
Unknown
nonsynonymous SNV
NM_018398
c.G427A
p.G143R
25.7
-
Wang2020
T
CACNA2D3
3-0204-000
chr3:
54659594-54659594
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
ACGC_HN0106.p1
chr3:
54596895-54596895
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C613T
p.R205C
23.0
8.356E-6
Wang2020
T
CACNA2D3
2-1740-003
chr3:
54611930-54611930
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
TASC_220-9950-201
chr3:
54925422-54925422
C
G
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2191G
p.R731G
19.64
-
Wang2020
T
CACNA2D3
1-1160-003
chr3:
54646572-54646572
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
7-0389-003
chr3:
54573582-54573582
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
5-5237-005
chr3:
54585405-54585405
A
C
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-0384-003
chr3:
54824021-54824021
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
1-0715-003
chr3:
55212484-55212484
G
C
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
Leuven_345488
chr3:
54930880-54930880
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2351T
p.S784L
26.6
8.281E-6
Wang2020
T
CACNA2D3
2-0003-004
chr3:
54553034-54553036
TGT
AGG
intronic
De novo
-
-
Trost2022
G
CACNA2D3
ACGC_M12496
chr3:
54798256-54798257
CA
C
exonic
Unknown
frameshift deletion
NM_018398
c.1259delA
p.Q420fs
-
-
Wang2020
T
CACNA2D3
AU059003
chr3:
54559506-54559506
T
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU0636303
chr3:
54766563-54766563
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
ACGC_M8461
chr3:
54930847-54930847
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2318T
p.A773V
34.0
-
Wang2020
T
CACNA2D3
7-0427-003
chr3:
54826331-54826332
AC
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
ACGC_M23096
chr3:
54930847-54930847
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2318T
p.A773V
34.0
-
Wang2020
T
CACNA2D3
MSSNG00212-003
chr3:
54838991-54838991
C
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AGRE_AU066203
chr3:
54919550-54919550
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C1993T
p.R665C
31.0
5.194E-5
Wang2020
T
CACNA2D3
7-0048-003
chr3:
54723036-54723036
A
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AGRE_AU066204
chr3:
54919550-54919550
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C1993T
p.R665C
31.0
5.194E-5
Wang2020
T
CACNA2D3
2-1823-003
chr3:
54797674-54797674
A
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
SAGE_BK_725_03
chr3:
54604055-54604055
G
A
exonic
Unknown
nonsynonymous SNV
NM_018398
c.G812A
p.R271H
28.2
8.302E-6
Wang2020
T
CACNA2D3
MT_69.4
chr3:
54688882-54688882
C
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
TASC_211-5650-3
chr3:
54596895-54596895
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C613T
p.R205C
23.0
8.356E-6
Wang2020
T
CACNA2D3
5-0086-003
chr3:
54717949-54717949
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
ACGC_M16226
chr3:
54930847-54930847
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2318T
p.A773V
34.0
-
Wang2020
T
CACNA2D3
2-1724-003
chr3:
54676788-54676791
GTTA
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
3-0439-000
chr3:
55013341-55013341
T
G
intronic
De novo
-
-
Yuen2016
G
CACNA2D3
AGRE_AU0863301
chr3:
54925398-54925398
G
A
exonic
Unknown
nonsynonymous SNV
NM_018398
c.G2167A
p.V723M
23.7
1.658E-5
Wang2020
T
CACNA2D3
1-1102-003
chr3:
54680119-54680119
G
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU1271303
chr3:
54676264-54676264
G
A
exonic
Maternal
nonsynonymous SNV
NM_018398
c.G1163A
p.R388Q
34.0
1.09E-5
Stessman2017
T
CACNA2D3
MSSNG00123-003
chr3:
54968917-54968917
C
A
intronic
De novo
-
-
Trost2022
G
Trost2022
G
CACNA2D3
1-1111-003
chr3:
54978639-54978640
AG
A
intronic
De novo
-
-
Trost2022
G
Trost2022
G
CACNA2D3
2-0323-004
chr3:
54955932-54955932
T
CA
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-0261-004
chr3:
54955976-54955977
CT
TG
intronic
De novo
-
-
Trost2022
G
CACNA2D3
SanDiego_U7D8Z
chr3:
55052345-55052345
G
C
splicing
Unknown
splicing
21.9
-
Wang2020
T
CACNA2D3
3-0398-000
chr3:
54955925-54955929
ATTTG
CTGTA
intronic
De novo
-
-
Trost2022
G
CACNA2D3
SanDiego_N2A2J
chr3:
55052345-55052345
G
C
splicing
Unknown
splicing
21.9
-
Wang2020
T
CACNA2D3
2-0309-004
chr3:
54955925-54955929
ATTTG
CTGTA
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-0469-005
chr3:
54844882-54844883
TT
AA
intronic
De novo
-
-
Trost2022
G
CACNA2D3
MSSNG00441-003
chr3:
54940920-54940920
G
A
intronic
De novo
-
-
Trost2022
G
CACNA2D3
2-1646-003
chr3:
54171108-54171108
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
PN400576
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
3-0016-000
chr3:
55085977-55085977
C
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
2-1458-003
chr3:
55106276-55106276
A
T
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU2571301
chr3:
55051705-55051705
T
C
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-1201-003
chr3:
55061300-55061300
A
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
7-0059-003
chr3:
55008701-55008702
AC
TT
intronic
De novo
-
-
Trost2022
G
CACNA2D3
1-0980-003
chr3:
55025902-55025902
A
G
intronic
De novo
-
-
Trost2022
G
CACNA2D3
AU4159301
chr3:
55068689-55068689
T
C
intronic
De novo
-
-
Yuen2017
G
CACNA2D3
M16226
chr3:
54930847-54930847
C
T
exonic
Paternal
nonsynonymous SNV
NM_018398
c.C2318T
p.A773V
34.0
-
Guo2018
T
CACNA2D3
PN400480
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
11440.p1
chr3:
54400607-54400607
T
G
intronic
De novo
-
-
Wilfert2021
G
CACNA2D3
14652.p1
chr3:
55027447-55027447
G
A
intronic
De novo
-
-
Wilfert2021
G
CACNA2D3
M30832
chr3:
55038848-55038848
G
A
exonic
Maternal
nonsynonymous SNV
NM_018398
c.G2749A
p.A917T
32.0
8.286E-6
Guo2018
T
CACNA2D3
1-0882-003
chr3:
54887104-54887104
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
2-1561-003
chr3:
54804929-54804929
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
AU4033305
chr3:
55337630-55337630
C
T
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
PN400209
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
2-1561-003
chr3:
54493097-54493097
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
Leuven_238848
chr3:
55107828-55107828
G
A
exonic
Unknown
nonsynonymous SNV
NM_018398
c.G3125A
p.R1042H
32.0
-
Wang2020
T
CACNA2D3
1-0323-004
chr3:
54804356-54804359
AGTT
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
1-0079-003
chr3:
55057372-55057372
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
AU3730301
chr3:
54558507-54558507
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
AU3779302
chr3:
55329623-55329623
C
A
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
2-1389-003
chr3:
55220405-55220405
T
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CACNA2D3
AU1952305
chr3:
54750058-54750058
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
PN400125
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
PN400505
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
1-0936-003
chr3:
54188769-54188769
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
13526.p1
chr3:
54921984-54921984
A
G
splicing
Unknown, De novo
splicing
17.81
-
Iossifov2012
E
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Wang2020
T
Wilfert2021
G
Willsey2013
E
Zhou2022
G
E
CACNA2D3
AU4235301
chr3:
55397617-55397617
A
G
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
ACGC_SD0023.p1
chr3:
54850898-54850898
G
A
splicing
Maternal
splicing
21.9
-
Wang2020
T
CACNA2D3
AGRE_AU1271303
chr3:
54676264-54676264
G
A
exonic
Maternal
nonsynonymous SNV
NM_018398
c.G1163A
p.R388Q
34.0
1.09E-5
Wang2020
T
CACNA2D3
2-1116-003
chr3:
55172141-55172141
A
C
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
2-1116-003
chr3:
55172139-55172139
A
C
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
2-0149-005
chr3:
55088008-55088012
TTCTG
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
SP0028290
chr3:
54850930-54850930
C
G
intronic
De novo
-
-
Fu2022
E
CACNA2D3
2-1378-003
chr3:
54796134-54796134
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
150999
chr3:
54420745-54420745
C
T
exonic
De novo
synonymous SNV
NM_018398
c.C325T
p.L109L
-
-
Fu2022
E
CACNA2D3
1-0514-003
chr3:
54649442-54649442
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
CACNA2D3
M23110
chr3:
54604066-54604066
G
A
exonic
Paternal
nonsynonymous SNV
NM_018398
c.G823A
p.A275T
32.0
-
Guo2018
T
Wang2016
T
CACNA2D3
1-0868-003
chr3:
55229319-55229319
A
G
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
PN400128
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
2-0270-003
chr3:
54535611-54535611
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
PN400157
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
A28
chr3:
54386936-54386936
G
A
intronic
De novo
-
-
Wu2018
G
CACNA2D3
AU3635301
chr3:
55259731-55259731
T
G
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
2-1254-003
chr3:
54244479-54244479
G
A
intronic
De novo
-
-
Yuen2016
G
CACNA2D3
M08461
chr3:
54930847-54930847
C
T
exonic
Maternal
nonsynonymous SNV
NM_018398
c.C2318T
p.A773V
34.0
-
Guo2018
T
Wang2016
T
CACNA2D3
M23096
chr3:
54930847-54930847
C
T
exonic
Maternal
nonsynonymous SNV
NM_018398
c.C2318T
p.A773V
34.0
-
Guo2018
T
Wang2016
T
CACNA2D3
SMHC02048s000
chr3:
54786653-54786653
C
T
exonic
De novo
stopgain
NM_018398
c.C1195T
p.R399X
37.0
1.795E-5
Yuan2023
E
CACNA2D3
217-14277-4000
chr3:
54925395-54925395
G
A
exonic
Paternal
nonsynonymous SNV
NM_018398
c.G2164A
p.G722S
33.0
-
Stessman2017
T
CACNA2D3
5-0077-003
chr3:
55368141-55368141
G
A
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
SX0037.p1
chr3:
54922022-54922022
C
T
exonic
Maternal
nonsynonymous SNV
NM_018398
c.C2093T
p.A698V
35.0
9.109E-5
Guo2018
T
CACNA2D3
PN400102
chr3:
54925426-54925426
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2195T
p.T732M
25.8
0.0076
Leblond2019
E
CACNA2D3
AU061104
chr3:
54658529-54658529
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
2-1350-003
chr3:
54344863-54344865
CAA
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
AU2950302
chr3:
54839030-54839030
T
C
intronic
De novo
-
-
Yuen2017
G
CACNA2D3
2-1619-004
chr3:
55093044-55093044
T
TTTTGTTCATGTCATGCAAAATGAACAAAATCC
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
1-1004-003
chr3:
54953558-54953558
G
A
intronic
De novo
-
-
Yuen2017
G
CACNA2D3
SSC08101
chr3:
54921984-54921984
A
G
splicing
De novo
splicing
17.81
-
Antaki2022
G
E
Fu2022
E
Lim2017
E
Trost2022
G
CACNA2D3
AU3847302
chr3:
54234421-54234421
C
T
intronic
De novo
-
-
Yuen2017
G
CACNA2D3
AU4211304
chr3:
55076849-55076849
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
11456.p1
chr3:
54743403-54743403
C
T
intronic
De novo
-
-
Turner2016
G
CACNA2D3
1-0998-003
chr3:
54544240-54544263
AATGGATGGATGGATGGATGGATG
AATGGATGGATGGATGGATG
intronic
De novo
-
-
Yuen2017
G
CACNA2D3
14015.p1
chr3:
54817006-54817006
G
C
intronic
De novo
-
-
Turner2016
G
CACNA2D3
14153.p1
chr3:
54158012-54158012
T
C
intronic
De novo
-
-
Turner2016
G
CACNA2D3
UK10K_SKUSE5080203
chr3:
54872646-54872646
G
T
exonic
Unknown, De novo
stopgain
NM_018398
c.G1522T
p.E508X
38.0
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Wang2020
T
Zhou2022
G
E
CACNA2D3
14153.p1
chr3:
54218542-54218542
A
T
intronic
De novo
-
-
Turner2016
G
CACNA2D3
AU3997302
chr3:
54243814-54243814
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
13539.p1
chr3:
55442761-55442761
T
C
intergenic
De novo
-
-
Turner2016
G
CACNA2D3
1-0286-004
chr3:
54553063-54553063
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
AU4234302
chr3:
55038368-55038368
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
Uddin2014:22
chr3:
54921984-54921984
A
G
splicing
De novo
splicing
17.81
-
Uddin2014
E
CACNA2D3
AU4234302
chr3:
55038555-55038555
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
13539.p1
chr3:
55092920-55092920
T
C
intronic
De novo
-
-
Turner2016
G
CACNA2D3
AU4234302
chr3:
55038557-55038557
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
12568.p1
chr3:
55143727-55143727
T
C
intergenic
De novo
-
-
Turner2016
G
CACNA2D3
Viggiano2022:103.3
chr3:
54798358-54798358
G
A
exonic
Maternal
nonsynonymous SNV
NM_018398
c.G1360A
p.E454K
36.0
1.657E-5
Viggiano2022
G
T
CACNA2D3
Viggiano2022:54.3
chr3:
54661868-54661868
A
G
exonic
Maternal
nonsynonymous SNV
NM_018398
c.A1018G
p.I340V
11.92
3.0E-4
Viggiano2022
G
T
CACNA2D3
Viggiano2022:68.4
chr3:
55052251-55052251
C
T
exonic
Paternal
nonsynonymous SNV
NM_018398
c.C2894T
p.T965I
11.81
-
Viggiano2022
G
T
CACNA2D3
Viggiano2022:68.3
chr3:
55052251-55052251
C
T
exonic
Paternal
nonsynonymous SNV
NM_018398
c.C2894T
p.T965I
11.81
-
Viggiano2022
G
T
CACNA2D3
AU3638302
chr3:
54175989-54175989
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
7-0249-004
chr3:
54469795-54469795
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
2-1089-004
chr3:
55420129-55420129
A
T
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
Leuven_149194
chr3:
54922022-54922022
C
T
exonic
Unknown
nonsynonymous SNV
NM_018398
c.C2093T
p.A698V
35.0
9.109E-5
Wang2020
T
CACNA2D3
1-0049-004
chr3:
54423818-54423818
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA2D3
2-0129-004
chr3:
55348403-55348403
G
A
intergenic
De novo
-
-
Yuen2017
G
CACNA2D3
ACGC_SX0037.p1
chr3:
54922022-54922022
C
T
exonic
Maternal
nonsynonymous SNV
NM_018398
c.C2093T
p.A698V
35.0
9.109E-5
Wang2020
T
Source Variant Information
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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
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