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Results for "CSMD3"

Variant Events: 252

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     2-1619-004chr8:
116173652-116173652		AGintergenicDe novo--Yuen2017 G
CSMD3     74-0355chr8:
113447649-113447649		TCintronicDe novo--Michaelson2012 G
CSMD3     Li2017:20746chr8:
113308208-113308208		AGexonicUnknownnonsynonymous SNVNM_052900
NM_198123
NM_198124		c.T7961C
c.T8468C
c.T8348C		p.I2654T
p.I2823T
p.I2783T		21.61.0E-4Li2017 T
CSMD3     AU2756306chr8:
113348872-113348872		CTintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     AU2793302chr8:
114744925-114744925		TCintergenicDe novo--Yuen2017 G
CSMD3     AU4145301chr8:
116159407-116159407		CAintergenicDe novo--Yuen2017 G
CSMD3     AU4234302chr8:
113346541-113346541		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     AU031403chr8:
113673736-113673736		ACintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-0319-003chr8:
115260951-115260951		CAintergenicDe novo--Yuen2017 G
CSMD3     AU3712302chr8:
115064269-115064269		GTintergenicDe novo--Yuen2017 G
CSMD3     AU072004chr8:
114288084-114288084		ATintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     SP0068511chr8:
113256678-113256678		TCexonicDe novosynonymous SNVNM_052900
NM_198123
NM_198124		c.A9840G
c.A10347G
c.A10227G		p.E3280E
p.E3449E
p.E3409E		--Fu2022 E
Trost2022 G
Zhou2022 GE
CSMD3     AU011903chr8:
113580313-113580313		GCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-1086-003chr8:
116351873-116351873		GAintergenicDe novo--Yuen2017 G
CSMD3     SP0134301 Complex Event; expand row to view variants  De novo-5.803E-5Fu2022 E
Trost2022 G
Trost2022 G
CSMD3     SP0026753chr8:
113323190-113323190		GAintronicDe novo--Fu2022 E
Trost2022 G
CSMD3     SP0068108chr8:
113988041-113988041		GCintronicDe novo--Fu2022 E
Trost2022 G
CSMD3     1-0627-004chr8:
114355226-114355226		GAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0119-004chr8:
113276381-113276381		CTintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     5-0064-003chr8:
116054625-116054630		CTTTTTCTTTTTTintergenicDe novo--Yuen2017 G
CSMD3     AU3912301chr8:
116132835-116132847		TGTCTCAAATTAATintergenicDe novo--Yuen2017 G
CSMD3     1-0563-004chr8:
115744910-115744910		CTintergenicDe novo--Yuen2017 G
CSMD3     7-0002-003chr8:
114783478-114783478		CAintergenicDe novo--Yuen2017 G
CSMD3     AU4154303chr8:
113823079-113823079		CAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0671-003chr8:
115045114-115045114		TGintergenicDe novo--Yuen2017 G
CSMD3     1-0862-003chr8:
115574879-115574879		CTintergenicDe novo--Yuen2017 G
CSMD3     AU2495302chr8:
115663125-115663125		GAintergenicDe novo--Yuen2017 G
CSMD3     1-0460-003chr8:
113984351-113984351		ACintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     AU017304chr8:
115616798-115616798		GCintergenicDe novo--Yuen2017 G
CSMD3     1-0388-003chr8:
113922765-113922765		CTintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0443-003chr8:
114029443-114029443		GAintronicDe novo--Yuen2016 G
CSMD3     AU024104 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CSMD3     1-0460-003chr8:
114590621-114590621		AGintergenicDe novo--Yuen2017 G
CSMD3     2-1505-004chr8:
114227293-114227293		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     A9chr8:
113354303-113354303		AGintronicDe novo--Wu2018 G
CSMD3     A15chr8:
114538242-114538242		CTintergenicDe novo--Wu2018 G
CSMD3     1-0636-003chr8:
115325200-115325200		TGintergenicDe novo--Yuen2017 G
CSMD3     1-0065-005chr8:
113645498-113645498		AGintronicDe novo--Yuen2017 G
CSMD3     1-0289-003chr8:
116074360-116074360		AATATATACATintergenicDe novo--Yuen2017 G
CSMD3     1-0289-003chr8:
114662623-114662623		TCintergenicDe novo--Yuen2017 G
CSMD3     A10chr8:
116051582-116051585		ATGTAintergenicDe novo--Wu2018 G
CSMD3     7-0082-003chr8:
116325260-116325260		CTintergenicDe novo--Yuen2017 G
CSMD3     5-0015-004chr8:
115309020-115309020		TAintergenicDe novo--Yuen2017 G
CSMD3     3-0307-000chr8:
114167005-114167005		AGintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     09C81416chr8:
113308259-113308259		TCintronicDe novo--Kosmicki2017 E
CSMD3     AU031404chr8:
114402801-114402806		CATGATCATintronicDe novo--Yuen2017 G
CSMD3     AU3782303chr8:
114346612-114346612		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-0057-004chr8:
113706837-113706837		AGintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     A08036-1chr8:
113358413-113358413		TAexonicUnknownnonsynonymous SNVNM_052900
NM_198123
NM_198124		c.A6043T
c.A6355T
c.A6235T		p.S2015C
p.S2119C
p.S2079C		25.79.065E-5Li2017 T
CSMD3     AU4159301chr8:
114656499-114656499		TCintergenicDe novo--Yuen2017 G
CSMD3     1-0673-003chr8:
114256171-114256171		ACintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-1487-003chr8:
114524476-114524476		CTintergenicDe novo--Yuen2017 G
CSMD3     11352.p1chr8:
113812431-113812431		GAexonicDe novosynonymous SNVNM_052900
NM_198123
NM_198124		c.C1620T
c.C1932T
c.C1812T		p.D540D
p.D644D
p.D604D		-0.0017Iossifov2014 E
Kosmicki2017 E
CSMD3     AU1987302chr8:
115840416-115840416		TCintergenicDe novo--Yuen2017 G
CSMD3     1-0289-004chr8:
115311671-115311671		TCintergenicDe novo--Yuen2017 G
CSMD3     1-0572-003chr8:
114954698-114954698		AGintergenicDe novo--Yuen2017 G
CSMD3     1-0265-003chr8:
114806321-114806321		TGintergenicDe novo--Yuen2017 G
CSMD3     2-1389-003chr8:
115895873-115895873		AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CSMD3     2-1371-003chr8:
115342779-115342779		AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CSMD3     1-0382-004chr8:
116022425-116022425		GCintergenicDe novo--Yuen2017 G
CSMD3     1-0969-003chr8:
115595487-115595487		CTintergenicDe novo--Yuen2017 G
CSMD3     2-0208-004chr8:
114894978-114894978		ACintergenicDe novo--Yuen2017 G
CSMD3     2-1237-003chr8:
115596703-115596703		GAintergenicDe novo--Yuen2017 G
CSMD3     1-0339-003chr8:
115965775-115965775		CAintergenicDe novo--Yuen2017 G
CSMD3     2-1460-003chr8:
113908928-113908928		GAintronicDe novo--Yuen2017 G
CSMD3     3-0080-000chr8:
116194513-116194513		TCintergenicDe novo--Yuen2017 G
CSMD3     AU2109302chr8:
113996724-113996724		CTintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     5-0042-003 Complex Event; expand row to view variants  De novosplicing--Trost2022 G
Yuen2017 G
Zhou2022 GE
CSMD3     AU1668302chr8:
113624235-113624235		CTintronicDe novo--Yuen2017 G
CSMD3     AU3907301chr8:
114765555-114765555		CTintergenicDe novo--Yuen2017 G
CSMD3     1-0332-003chr8:
113449093-113449093		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     AU1668302chr8:
114695200-114695200		ACintergenicDe novo--Yuen2017 G
CSMD3     2-0242-004chr8:
114721487-114721487		CCTintergenicDe novo--Yuen2017 G
CSMD3     AU4263304chr8:
113874426-113874426		TAintronicDe novo--Yuen2017 G
CSMD3     1-0121-003chr8:
114962354-114962354		GAintergenicDe novo--Yuen2017 G
CSMD3     2-0003-003chr8:
114312369-114312369		TCintronicDe novo--Yuen2017 G
CSMD3     AU2000305chr8:
113552123-113552123		CTintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-0299-005chr8:
116022276-116022276		GAintergenicDe novo--Yuen2017 G
CSMD3     5-0146-003chr8:
113874561-113874561		GAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     AU0638302chr8:
116227168-116227168		TCintergenicDe novo--Yuen2017 G
CSMD3     3-0437-000chr8:
113393529-113393529		AATintronicDe novo--Trost2022 G
Yuen2016 G
CSMD3     2-0012-003chr8:
116018086-116018086		CAintergenicDe novo--Yuen2017 G
CSMD3     1-0699-003chr8:
115613552-115613552		TCintergenicDe novo--Yuen2017 G
CSMD3     2-0323-003chr8:
114722334-114722334		CTintergenicDe novo--Yuen2017 G
CSMD3     AU002406chr8:
115176890-115176890		GAintergenicDe novo--Yuen2017 G
CSMD3     1-0772-003chr8:
115884381-115884381		TCintergenicDe novo--Yuen2017 G
CSMD3     AU072504chr8:
113303531-113303531		GAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0568-003chr8:
114346140-114346140		CGintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     3-0430-000chr8:
114743552-114743552		GAintergenicDe novo--Yuen2016 G
CSMD3     AU4069302chr8:
115415732-115415732		TCintergenicDe novo--Yuen2017 G
CSMD3     2-0285-004chr8:
115823590-115823590		AAGAAAATATCTAAGGCAATTintergenicDe novo--Yuen2017 G
CSMD3     1-0871-003chr8:
114951544-114951544		CTintergenicDe novo--Yuen2017 G
CSMD3     1-0175-003chr8:
114312361-114312361		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-1511-003chr8:
114335669-114335669		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     3-0169-000chr8:
115108564-115108564		TCintergenicDe novo--Yuen2016 G
CSMD3     5-0045-003chr8:
115315719-115315720		TGTintergenicDe novo--Yuen2017 G
CSMD3     1-0006-004chr8:
113514374-113514374		AGintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0196-005chr8:
113753647-113753647		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0377-003chr8:
115765552-115765552		TTAintergenicDe novo--Yuen2017 G
CSMD3     A20chr8:
113668409-113668409		TCexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.A2666G
c.A2978G
c.A2858G		p.N889S
p.N993S
p.N953S		13.642.487E-5Wu2018 G
CSMD3     A17chr8:
113668564-113668564		CGexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.G2511C
c.G2823C
c.G2703C		p.Q837H
p.Q941H
p.Q901H		12.4-Wu2018 G
CSMD3     2-1526-003chr8:
115370446-115370446		CAintergenicDe novo--Yuen2017 G
CSMD3     A1chr8:
113516066-113516066		CTexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.G4724A
c.G5036A
c.G4916A		p.R1575Q
p.R1679Q
p.R1639Q		28.08.254E-6Wu2018 G
CSMD3     A23chr8:
113349801-113349801		TGexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.A6500C
c.A6812C
c.A6692C		p.N2167T
p.N2271T
p.N2231T		22.0-Wu2018 G
CSMD3     A18chr8:
113651035-113651035		GAexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.C3104T
c.C3416T
c.C3296T		p.S1035L
p.S1139L
p.S1099L		23.7-Wu2018 G
CSMD3     AU4089302chr8:
115239646-115239650		CATATCATintergenicDe novo--Yuen2017 G
CSMD3     1-0218-003chr8:
113421647-113421647		CTintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0352-005chr8:
114108571-114108571		TAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     A3chr8:
113323314-113323314		CTexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.G7466A
c.G7778A
c.G7658A		p.R2489H
p.R2593H
p.R2553H		19.341.648E-5Wu2018 G
CSMD3     2-1339-003chr8:
113738639-113738639		AAGTintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-0242-005chr8:
114222192-114222194		ACTAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-1526-003chr8:
115385361-115385361		GCintergenicDe novo--Yuen2017 G
CSMD3     AU3680302chr8:
115801016-115801016		AGintergenicDe novo--Yuen2017 G
CSMD3     AU0540301chr8:
115757303-115757303		TGintergenicDe novo--Yuen2017 G
CSMD3     2-0158-003chr8:
114699833-114699833		CTintergenicDe novo--Yuen2017 G
CSMD3     2-1364-003chr8:
113344533-113344534		AGAintronicDe novo--Yuen2017 G
CSMD3     1-0440-003chr8:
114756214-114756214		GAintergenicDe novo--Yuen2017 G
CSMD3     AU3763305chr8:
116026060-116026060		CTintergenicDe novo--Yuen2017 G
CSMD3     2-1220-003chr8:
115592593-115592593		GAintergenicDe novo--Yuen2017 G
CSMD3     08C72821chr8:
113254051-113254051		GCintronicDe novo--Satterstrom2020 E
Trost2022 G
CSMD3     AU2303301chr8:
113303847-113303847		CAexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.G8359T
c.G8866T
c.G8746T		p.G2787C
p.G2956C
p.G2916C		22.3-Trost2022 G
Zhou2022 GE
CSMD3     AU2212301chr8:
113420627-113420627		AGexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.T5213C
c.T5525C
c.T5405C		p.L1738P
p.L1842P
p.L1802P		16.98-Trost2022 G
Zhou2022 GE
CSMD3     3-0471-000chr8:
113353910-113353910		GAexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.C6136T
c.C6448T
c.C6328T		p.H2046Y
p.H2150Y
p.H2110Y		20.2-Trost2022 G
Zhou2022 GE
CSMD3     2-0110-003chr8:
113654825-113654825		CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CSMD3     1-1049-003chr8:
113285877-113285877		CTintronicDe novo--Trost2022 G
CSMD3     MSSNG00421-008chr8:
113293932-113293932		AGintronicDe novo--Trost2022 G
CSMD3     A5chr8:
114552458-114552458		CTintergenicDe novo--Wu2018 G
CSMD3     AU031203chr8:
115588781-115588781		GTintergenicDe novo--Yuen2017 G
CSMD3     7-0324-003chr8:
113423213-113423213		CGintronicDe novo--Trost2022 G
CSMD3     MT_22.3chr8:
113429228-113429228		ATintronicDe novo--Trost2022 G
CSMD3     1-0609-003chr8:
114626510-114626510		CTintergenicDe novo--Yuen2017 G
CSMD3     MT_31.3chr8:
113367618-113367618		AGintronicDe novo--Trost2022 G
CSMD3     MSSNG00343-003chr8:
113373224-113373224		AGintronicDe novo--Trost2022 G
CSMD3     7-0233-003chr8:
113341117-113341117		CAintronicDe novo--Trost2022 G
CSMD3     AU023012chr8:
113357637-113357637		TTAintronicDe novo--Trost2022 G
CSMD3     3-0485-000Achr8:
113294112-113294112		ACintronicDe novo--Trost2022 G
CSMD3     7-0094-003chr8:
113314942-113314942		TCintronicDe novo--Trost2022 G
CSMD3     AU055603chr8:
113537609-113537609		ACintronicDe novo--Trost2022 G
CSMD3     AU2310301chr8:
113538901-113538901		ATintronicDe novo--Trost2022 G
CSMD3     AU055603chr8:
113510626-113510626		GAintronicDe novo--Trost2022 G
CSMD3     MSSNG00346-004chr8:
113532131-113532131		CAintronicDe novo--Trost2022 G
CSMD3     2-1075-003chr8:
113503606-113503606		GAintronicDe novo--Trost2022 G
CSMD3     1-0303-004chr8:
113509507-113509508		GGAGATCTAGTATTTGATAGCACAAAAGAATGAATAAintronicDe novo--Trost2022 G
CSMD3     4-0047-003chr8:
113434485-113434485		AGintronicDe novo--Trost2022 G
CSMD3     1-0384-003chr8:
115449241-115449264		GTATTTTTATTTTATTTTTATTTTGTATTTTTATTTTintergenicDe novo--Yuen2017 G
CSMD3     AU4269301chr8:
115807113-115807113		CTintergenicDe novo--Yuen2017 G
CSMD3     3-0607-001chr8:
113461498-113461498		GCintronicDe novo--Trost2022 G
CSMD3     3-0393-000chr8:
113649436-113649437		TGTintronicDe novo--Trost2022 G
CSMD3     2-0139-004chr8:
113686640-113686640		GCintronicDe novo--Trost2022 G
CSMD3     AU2320301chr8:
113623304-113623304		TGintronicDe novo--Trost2022 G
CSMD3     AU072505chr8:
115848239-115848239		ATintergenicDe novo--Yuen2017 G
CSMD3     REACH000650chr8:
113638494-113638494		AGintronicDe novo--Trost2022 G
CSMD3     7-0354-003chr8:
113578794-113578794		CTintronicDe novo--Trost2022 G
CSMD3     1-0193-003chr8:
113612128-113612128		TAintronicDe novo--Trost2022 G
CSMD3     2-0126-004chr8:
114330942-114330942		CGintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     MSSNG00208-003chr8:
113558397-113558397		GAintronicDe novo--Trost2022 G
CSMD3     REACH000643chr8:
113561537-113561537		TAintronicDe novo--Trost2022 G
CSMD3     AU3913302chr8:
114810313-114810313		CGintergenicDe novo--Yuen2017 G
CSMD3     1-0224-004chr8:
113834123-113834123		CTintronicDe novo--Trost2022 G
CSMD3     1-0224-004chr8:
113834127-113834127		GAintronicDe novo--Trost2022 G
CSMD3     AU059003chr8:
113791572-113791572		AGintronicDe novo--Trost2022 G
CSMD3     AU2310301chr8:
113807548-113807549		GAGintronicDe novo--Trost2022 G
CSMD3     SJD_71.3chr8:
113719744-113719744		TAintronicDe novo--Trost2022 G
CSMD3     H3E8D_01chr8:
113786874-113786874		AGintronicDe novo--Trost2022 G
CSMD3     SP0185283chr8:
113694835-113694835		CGexonicDe novononsynonymous SNVNM_052900
NM_198123
NM_198124		c.G2201C
c.G2513C
c.G2393C		p.G734A
p.G838A
p.G798A		27.2-Trost2022 G
CSMD3     5-0009-003chr8:
113699667-113699667		GCintronicDe novo--Trost2022 G
CSMD3     AU0452304chr8:
113943717-113943717		CAintronicDe novo--Trost2022 G
CSMD3     1-0352-003chr8:
114108571-114108571		TAintronicDe novo--Yuen2016 G
CSMD3     7-0441-003chr8:
113972802-113972802		TCintronicDe novo--Trost2022 G
CSMD3     AU2207301chr8:
113872046-113872046		TCintronicDe novo--Trost2022 G
CSMD3     2-1693-003chr8:
113281070-113281070		CTintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     5-5007-003chr8:
113936631-113936631		TCintronicDe novo--Trost2022 G
CSMD3     1-0224-004chr8:
113834144-113834144		TCintronicDe novo--Trost2022 G
CSMD3     3-0526-000chr8:
113837651-113837651		GAintronicDe novo--Trost2022 G
CSMD3     AU3368302chr8:
113945072-113945072		TAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0224-004chr8:
113834132-113834134		AGAGGGintronicDe novo--Trost2022 G
CSMD3     5-0055-004chr8:
115196343-115196343		TCintergenicDe novo--Yuen2017 G
CSMD3     AU3368302chr8:
114479023-114479023		ACintergenicDe novo--Yuen2017 G
CSMD3     1-0224-004chr8:
113834137-113834137		CTintronicDe novo--Trost2022 G
CSMD3     3-0193-000chr8:
114021344-114021344		GAintronicDe novo--Trost2022 G
CSMD3     AU060403chr8:
113284933-113284933		TCintronicDe novo--Yuen2017 G
CSMD3     2-1192-003chr8:
114037300-114037300		ACintronicDe novo--Trost2022 G
CSMD3     3-0114-000chr8:
114004076-114004076		CTintronicDe novo--Trost2022 G
CSMD3     AU055603chr8:
114011942-114011942		AGintronicDe novo--Trost2022 G
CSMD3     1-1026-003chr8:
113989653-113989653		GCintronicDe novo--Trost2022 G
CSMD3     1-0406-003chr8:
113993073-113993076		CTGGAintronicDe novo--Trost2022 G
CSMD3     1-0206-005chr8:
113985860-113985881		AAGTCTTAGAAGATAGTTTCATAintronicDe novo--Trost2022 G
CSMD3     2-1444-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CSMD3     1-1026-003chr8:
113989632-113989632		GCintronicDe novo--Trost2022 G
CSMD3     MSSNG00030-004chr8:
114230215-114230215		AGintronicDe novo--Trost2022 G
CSMD3     2-1352-003chr8:
114792229-114792229		GAintergenicDe novo--Yuen2017 G
CSMD3     MSSNG00363-004chr8:
114295849-114295849		CTintronicDe novo--Trost2022 G
CSMD3     AU2310301chr8:
114128164-114128164		TGintronicDe novo--Trost2022 G
CSMD3     2-0307-003chr8:
114197048-114197049		ACAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     AU4015302chr8:
114028710-114028710		AGintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     C9C2C_01chr8:
114221752-114221752		TCintronicDe novo--Trost2022 G
CSMD3     2-1801-003chr8:
114103621-114103621		TCintronicDe novo--Trost2022 G
CSMD3     2-1800-003chr8:
114114148-114114149		TATintronicDe novo--Trost2022 G
CSMD3     MSSNG00368-004chr8:
114078492-114078492		AGintronicDe novo--Trost2022 G
CSMD3     7-0354-004chr8:
114079418-114079418		AGintronicDe novo--Trost2022 G
CSMD3     MSSNG00199-003chr8:
114374492-114374492		CTintronicDe novo--Trost2022 G
CSMD3     MSSNG00339-004chr8:
114383895-114383895		CTintronicDe novo--Trost2022 G
CSMD3     MSSNG00024-003Achr8:
114352545-114352545		ACintronicDe novo--Trost2022 G
CSMD3     5-5130-004chr8:
114365275-114365275		TCintronicDe novo--Trost2022 G
CSMD3     1-1015-003Achr8:
114330468-114330468		AGintronicDe novo--Trost2022 G
CSMD3     2-0070-003chr8:
114348466-114348467		CTCintronicDe novo--Trost2022 G
CSMD3     11194.p1chr8:
113640534-113640534		ATintronicDe novo--Turner2016 G
CSMD3     AU043804chr8:
114276274-114276274		TAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     MT_31.3chr8:
114321661-114321661		GAintronicDe novo--Trost2022 G
CSMD3     13023.p1chr8:
114944965-114944965		TCintergenicDe novo--Turner2016 G
CSMD3     1-0403-004chr8:
114837692-114837692		TGintergenicDe novo--Yuen2017 G
CSMD3     1030chr8:
114325683-114325683		TGintronicDe novo--Trost2022 G
CSMD3     2-1275-003chr8:
115758031-115758031		GAintergenicDe novo--Yuen2017 G
CSMD3     MSSNG00227-003chr8:
114446944-114446944		AGintronicDe novo--Trost2022 G
CSMD3     AU3997301chr8:
114732085-114732085		GCintergenicDe novo--Yuen2017 G
CSMD3     3-0178-000chr8:
114427386-114427386		CTintronicDe novo--Trost2022 G
CSMD3     MSSNG00232-003chr8:
114433488-114433488		AGintronicDe novo--Trost2022 G
CSMD3     1-0775-003chr8:
114389558-114389558		TAintronicDe novo--Trost2022 G
CSMD3     MSSNG00389-003chr8:
114425829-114425829		CTintronicDe novo--Trost2022 G
CSMD3     AU3730301chr8:
114486813-114486813		CAintergenicDe novo--Yuen2017 G
CSMD3     1-0139-005chr8:
113695613-113695613		AGintronicDe novo--Yuen2017 G
CSMD3     Li2017:19661chr8:
113960052-113960052		GTexonicUnknownnonsynonymous SNVNM_052900
NM_198123
NM_198124		c.C1163A
c.C1475A
c.C1355A		p.P388Q
p.P492Q
p.P452Q		18.65-Li2017 T
CSMD3     2-1207-003chr8:
115055952-115055952		ACintergenicDe novo--Yuen2017 G
CSMD3     1-0706-003chr8:
113684628-113684628		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     2-1196-003chr8:
116280902-116280902		ACintergenicDe novo--Yuen2016 G
Yuen2017 G
CSMD3     SJD_49chr8:
113599372-113599372		TGexonicMaternalnonsynonymous SNVNM_052900
NM_198123
NM_198124		c.A3496C
c.A3808C
c.A3688C		p.S1166R
p.S1270R
p.S1230R		14.229.091E-5Toma2013 E
CSMD3     2-1292-004chr8:
115096625-115096625		GAintergenicDe novo--Yuen2017 G
CSMD3     7-0149-003chr8:
114250028-114250028		GAintronicDe novo--Yuen2017 G
CSMD3     AU4015303chr8:
114062285-114062285		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0180-004chr8:
113657507-113657507		TAintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     AU074503chr8:
115168175-115168175		CTintergenicDe novo--Yuen2017 G
CSMD3     1-0570-003chr8:
113924969-113924969		TCintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     AU4168306chr8:
113459195-113459195		AGintronicDe novo--Trost2022 G
Yuen2017 G
CSMD3     1-0490-003chr8:
113905346-113905368		AACTACTACTACTACTACTACTAAACTACTACTACTACTACTAintronicDe novo--Yuen2017 G
CSMD3     AU3720302chr8:
115534977-115534977		CTintergenicDe novo--Yuen2017 G
CSMD3     AU4153301chr8:
114532162-114532162		CTintergenicDe novo--Yuen2017 G
CSMD3     1-0514-003chr8:
114584310-114584310		AGintergenicDe novo--Yuen2016 G
Yuen2017 G