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Results for "CSMD3"
Variant Events: 178
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
CSMD3
AU4069302
chr8:
115415732-115415732
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1619-004
chr8:
116173652-116173652
A
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
74-0355
chr8:
113447649-113447649
T
C
intronic
De novo
-
-
Michaelson2012
G
CSMD3
Li2017:20746
chr8:
113308208-113308208
A
G
exonic
Unknown
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.T7961C
c.T8468C
c.T8348C
p.I2654T
p.I2823T
p.I2783T
21.6
1.0E-4
Li2017
T
CSMD3
AU2756306
chr8:
113348872-113348872
C
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU2793302
chr8:
114744925-114744925
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-0285-004
chr8:
115823590-115823590
A
AGAAAATATCTAAGGCAATT
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU4145301
chr8:
116159407-116159407
C
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU4234302
chr8:
113346541-113346541
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0871-003
chr8:
114951544-114951544
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU031403
chr8:
113673736-113673736
A
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0175-003
chr8:
114312361-114312361
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1511-003
chr8:
114335669-114335669
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
3-0169-000
chr8:
115108564-115108564
T
C
intergenic
De novo
-
-
Yuen2016
G
CSMD3
2-0319-003
chr8:
115260951-115260951
C
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
5-0045-003
chr8:
115315719-115315720
TG
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0006-004
chr8:
113514374-113514374
A
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0196-005
chr8:
113753647-113753647
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0377-003
chr8:
115765552-115765552
T
TA
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU3712302
chr8:
115064269-115064269
G
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
A20
chr8:
113668409-113668409
T
C
exonic
De novo
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.A2666G
c.A2978G
c.A2858G
p.N889S
p.N993S
p.N953S
13.64
2.487E-5
Wu2018
G
CSMD3
AU072004
chr8:
114288084-114288084
A
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
SP0068511
chr8:
113256678-113256678
T
C
exonic
De novo
synonymous SNV
NM_052900
NM_198123
NM_198124
c.A9840G
c.A10347G
c.A10227G
p.E3280E
p.E3449E
p.E3409E
-
-
Fu2022
E
CSMD3
A17
chr8:
113668564-113668564
C
G
exonic
De novo
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.G2511C
c.G2823C
c.G2703C
p.Q837H
p.Q941H
p.Q901H
12.4
-
Wu2018
G
CSMD3
2-1526-003
chr8:
115370446-115370446
C
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
A1
chr8:
113516066-113516066
C
T
exonic
De novo
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.G4724A
c.G5036A
c.G4916A
p.R1575Q
p.R1679Q
p.R1639Q
28.0
8.254E-6
Wu2018
G
CSMD3
AU011903
chr8:
113580313-113580313
G
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
A23
chr8:
113349801-113349801
T
G
exonic
De novo
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.A6500C
c.A6812C
c.A6692C
p.N2167T
p.N2271T
p.N2231T
22.0
-
Wu2018
G
CSMD3
A18
chr8:
113651035-113651035
G
A
exonic
De novo
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.C3104T
c.C3416T
c.C3296T
p.S1035L
p.S1139L
p.S1099L
23.7
-
Wu2018
G
CSMD3
2-1086-003
chr8:
116351873-116351873
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU4089302
chr8:
115239646-115239650
CATAT
CAT
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0218-003
chr8:
113421647-113421647
C
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0352-005
chr8:
114108571-114108571
T
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
A3
chr8:
113323314-113323314
C
T
exonic
De novo
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.G7466A
c.G7778A
c.G7658A
p.R2489H
p.R2593H
p.R2553H
19.34
1.648E-5
Wu2018
G
CSMD3
2-1339-003
chr8:
113738639-113738639
A
AGT
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-0242-005
chr8:
114222192-114222194
ACT
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1526-003
chr8:
115385361-115385361
G
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
SP0134301
chr8:
113933829-113933829
T
A
intronic
De novo
-
5.803E-5
Fu2022
E
CSMD3
SP0026753
chr8:
113323190-113323190
G
A
intronic
De novo
-
-
Fu2022
E
CSMD3
AU3680302
chr8:
115801016-115801016
A
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
SP0068108
chr8:
113988041-113988041
G
C
intronic
De novo
-
-
Fu2022
E
CSMD3
AU0540301
chr8:
115757303-115757303
T
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-0158-003
chr8:
114699833-114699833
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0627-004
chr8:
114355226-114355226
G
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1364-003
chr8:
113344533-113344534
AG
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0440-003
chr8:
114756214-114756214
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0119-004
chr8:
113276381-113276381
C
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU3763305
chr8:
116026060-116026060
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
5-0064-003
chr8:
116054625-116054630
CTTTTT
CTTTTTT
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1220-003
chr8:
115592593-115592593
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU3912301
chr8:
116132835-116132847
TGTCTCAAATTAA
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0563-004
chr8:
115744910-115744910
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
7-0002-003
chr8:
114783478-114783478
C
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU4154303
chr8:
113823079-113823079
C
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
08C72821
chr8:
113254051-113254051
G
C
intronic
De novo
-
-
Satterstrom2020
E
CSMD3
1-0671-003
chr8:
115045114-115045114
T
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0862-003
chr8:
115574879-115574879
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU2495302
chr8:
115663125-115663125
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0460-003
chr8:
113984351-113984351
A
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU017304
chr8:
115616798-115616798
G
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0388-003
chr8:
113922765-113922765
C
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0443-003
chr8:
114029443-114029443
G
A
intronic
De novo
-
-
Yuen2016
G
CSMD3
AU024104
chr8:
114388649-114388654
TAACAA
TAA
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-0110-003
chr8:
113654825-113654825
C
T
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
CSMD3
1-0460-003
chr8:
114590621-114590621
A
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1505-004
chr8:
114227293-114227293
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
A5
chr8:
114552458-114552458
C
T
intergenic
De novo
-
-
Wu2018
G
CSMD3
A9
chr8:
113354303-113354303
A
G
intronic
De novo
-
-
Wu2018
G
CSMD3
A15
chr8:
114538242-114538242
C
T
intergenic
De novo
-
-
Wu2018
G
CSMD3
1-0636-003
chr8:
115325200-115325200
T
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0065-005
chr8:
113645498-113645498
A
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0289-003
chr8:
116074360-116074360
A
ATATATACAT
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU031203
chr8:
115588781-115588781
G
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0289-003
chr8:
114662623-114662623
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
A10
chr8:
116051582-116051585
ATGT
A
intergenic
De novo
-
-
Wu2018
G
CSMD3
1-0609-003
chr8:
114626510-114626510
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
7-0082-003
chr8:
116325260-116325260
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
5-0015-004
chr8:
115309020-115309020
T
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0384-003
chr8:
115449241-115449264
GTATTTTTATTTTATTTTTATTTT
GTATTTTTATTTT
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU4269301
chr8:
115807113-115807113
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
3-0307-000
chr8:
114167005-114167005
A
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
09C81416
chr8:
113308259-113308259
T
C
intronic
De novo
-
-
Kosmicki2017
E
CSMD3
AU072505
chr8:
115848239-115848239
A
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-0126-004
chr8:
114330942-114330942
C
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU3913302
chr8:
114810313-114810313
C
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU031404
chr8:
114402801-114402806
CATGAT
CAT
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU3782303
chr8:
114346612-114346612
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0352-003
chr8:
114108571-114108571
T
A
intronic
De novo
-
-
Yuen2016
G
CSMD3
2-0057-004
chr8:
113706837-113706837
A
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1693-003
chr8:
113281070-113281070
C
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
A08036-1
chr8:
113358413-113358413
T
A
exonic
Unknown
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.A6043T
c.A6355T
c.A6235T
p.S2015C
p.S2119C
p.S2079C
25.7
9.065E-5
Li2017
T
CSMD3
AU3368302
chr8:
113945072-113945072
T
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
5-0055-004
chr8:
115196343-115196343
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU3368302
chr8:
114479023-114479023
A
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU060403
chr8:
113284933-113284933
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1444-003
Complex Event; expand row to view variants
De novo
-
-
Yuen2016
G
Yuen2017
G
CSMD3
2-1352-003
chr8:
114792229-114792229
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-0307-003
chr8:
114197048-114197049
AC
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU4015302
chr8:
114028710-114028710
A
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU4159301
chr8:
114656499-114656499
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
11194.p1
chr8:
113640534-113640534
A
T
intronic
De novo
-
-
Turner2016
G
CSMD3
AU043804
chr8:
114276274-114276274
T
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
13023.p1
chr8:
114944965-114944965
T
C
intergenic
De novo
-
-
Turner2016
G
CSMD3
1-0403-004
chr8:
114837692-114837692
T
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0673-003
chr8:
114256171-114256171
A
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1275-003
chr8:
115758031-115758031
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU3997301
chr8:
114732085-114732085
G
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1487-003
chr8:
114524476-114524476
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU3730301
chr8:
114486813-114486813
C
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
11352.p1
chr8:
113812431-113812431
G
A
exonic
De novo
synonymous SNV
NM_052900
NM_198123
NM_198124
c.C1620T
c.C1932T
c.C1812T
p.D540D
p.D644D
p.D604D
-
0.0017
Iossifov2014
E
Kosmicki2017
E
CSMD3
1-0139-005
chr8:
113695613-113695613
A
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU1987302
chr8:
115840416-115840416
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0289-004
chr8:
115311671-115311671
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0572-003
chr8:
114954698-114954698
A
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0265-003
chr8:
114806321-114806321
T
G
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1389-003
chr8:
115895873-115895873
A
G
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CSMD3
Li2017:19661
chr8:
113960052-113960052
G
T
exonic
Unknown
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.C1163A
c.C1475A
c.C1355A
p.P388Q
p.P492Q
p.P452Q
18.65
-
Li2017
T
CSMD3
2-1371-003
chr8:
115342779-115342779
A
G
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CSMD3
1-0382-004
chr8:
116022425-116022425
G
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0969-003
chr8:
115595487-115595487
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1207-003
chr8:
115055952-115055952
A
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-0208-004
chr8:
114894978-114894978
A
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1237-003
chr8:
115596703-115596703
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0706-003
chr8:
113684628-113684628
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0339-003
chr8:
115965775-115965775
C
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1460-003
chr8:
113908928-113908928
G
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1196-003
chr8:
116280902-116280902
A
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CSMD3
SJD_49
chr8:
113599372-113599372
T
G
exonic
Maternal
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.A3496C
c.A3808C
c.A3688C
p.S1166R
p.S1270R
p.S1230R
14.22
9.091E-5
Toma2013
E
CSMD3
3-0080-000
chr8:
116194513-116194513
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU2109302
chr8:
113996724-113996724
C
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1292-004
chr8:
115096625-115096625
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
7-0149-003
chr8:
114250028-114250028
G
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
5-0042-003
chr8:
114388959-114388965
ATATCTA
ATATCTATCTA
splicing
De novo
splicing
-
-
Yuen2017
G
CSMD3
AU1668302
chr8:
113624235-113624235
C
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU3907301
chr8:
114765555-114765555
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0332-003
chr8:
113449093-113449093
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU1668302
chr8:
114695200-114695200
A
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-0242-004
chr8:
114721487-114721487
C
CT
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU4015303
chr8:
114062285-114062285
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0180-004
chr8:
113657507-113657507
T
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU074503
chr8:
115168175-115168175
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU4263304
chr8:
113874426-113874426
T
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0121-003
chr8:
114962354-114962354
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0570-003
chr8:
113924969-113924969
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU4168306
chr8:
113459195-113459195
A
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-0003-003
chr8:
114312369-114312369
T
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0490-003
chr8:
113905346-113905368
AACTACTACTACTACTACTACTA
AACTACTACTACTACTACTA
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU2000305
chr8:
113552123-113552123
C
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU3720302
chr8:
115534977-115534977
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-0299-005
chr8:
116022276-116022276
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU4153301
chr8:
114532162-114532162
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
5-0146-003
chr8:
113874561-113874561
G
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU0638302
chr8:
116227168-116227168
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0514-003
chr8:
114584310-114584310
A
G
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CSMD3
2-1567-003
chr8:
114098651-114098651
G
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-1314-003
chr8:
114189684-114189684
G
T
intronic
De novo
-
-
Yuen2016
G
CSMD3
2-1246-003
chr8:
115127504-115127504
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
3-0437-000
chr8:
113393529-113393529
A
AT
intronic
De novo
-
-
Yuen2016
G
CSMD3
1-0757-003
chr8:
114768770-114768770
A
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-0012-003
chr8:
116018086-116018086
C
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU015903
chr8:
113924276-113924276
A
T
intronic
De novo
-
-
Yuen2017
G
CSMD3
G01-GEA-312-HI
chr8:
113504881-113504881
G
A
exonic
De novo
synonymous SNV
NM_052900
NM_198123
NM_198124
c.C4803T
c.C5115T
c.C4995T
p.G1601G
p.G1705G
p.G1665G
-
-
Fu2022
E
Satterstrom2020
E
CSMD3
08C72543
chr8:
113347613-113347613
T
A
exonic
De novo
synonymous SNV
NM_052900
NM_198123
NM_198124
c.A6798T
c.A7110T
c.A6990T
p.L2266L
p.L2370L
p.L2330L
-
-
Fu2022
E
Satterstrom2020
E
CSMD3
AU4067301
chr8:
116413473-116413473
T
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0158-012
chr8:
114774444-114774444
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0699-003
chr8:
115613552-115613552
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
JASD_Fam0095
chr8:
113649210-113649210
T
A
exonic
De novo
nonsynonymous SNV
NM_052900
NM_198123
NM_198124
c.A3239T
c.A3551T
c.A3431T
p.D1080V
p.D1184V
p.D1144V
24.4
-
Takata2018
E
CSMD3
1-0885-003
chr8:
114066027-114066027
A
ATAT
intronic
De novo
-
-
Yuen2017
G
CSMD3
2-0323-003
chr8:
114722334-114722334
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
AU002406
chr8:
115176890-115176890
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0553-003
chr8:
115089679-115089679
G
A
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0772-003
chr8:
115884381-115884381
T
C
intergenic
De novo
-
-
Yuen2017
G
CSMD3
2-1619-004
chr8:
113736080-113736080
A
C
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU072504
chr8:
113303531-113303531
G
A
intronic
De novo
-
-
Yuen2017
G
CSMD3
1-0051-005
chr8:
115363688-115363688
C
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
1-0568-003
chr8:
114346140-114346140
C
G
intronic
De novo
-
-
Yuen2017
G
CSMD3
AU3874302
chr8:
115699869-115699869
A
T
intergenic
De novo
-
-
Yuen2017
G
CSMD3
3-0430-000
chr8:
114743552-114743552
G
A
intergenic
De novo
-
-
Yuen2016
G
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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