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Results for "Dingemans2022"

Variant Events: 53

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
CHD8     Dingemans2022:27chr14:
21894370-21894371		TTTexonicUnknownframeshift deletionNM_001170629
NM_020920		c.1632delA
c.795delA		p.R544fs
p.R265fs		--Dingemans2022 GET
CHD8     Dingemans2022:20chr14:
21883883-21883883		CAsplicingUnknownsplicing22.6-Dingemans2022 GET
CHD8     Dingemans2022:40chr14:
21894313-21894313		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C1690T
c.C853T		p.R564X
p.R285X		41.0-Dingemans2022 GET
CHD8     Dingemans2022:26chr14:
21876638-21876639		TATexonicUnknownstopgainNM_001170629
NM_020920		c.2562delT
c.1725delT		p.Y854X
p.Y575X		--Dingemans2022 GET
CHD8     Dingemans2022:38chr14:
21876687-21876687		CAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.G2514T
c.G1677T		p.M838I
p.M559I		32.0-Dingemans2022 GET
CHD8     Dingemans2022:37chr14:
21876554-21876554		CAexonicUnknownstopgainNM_001170629
NM_020920		c.G2647T
c.G1810T		p.E883X
p.E604X		18.05-Dingemans2022 GET
CHD8     Dingemans2022:42chr14:
21876584-21876584		TCexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.A2617G
c.A1780G		p.N873D
p.N594D		28.0-Dingemans2022 GET
CHD8     Dingemans2022:61chr14:
21882516-21882516		GTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.C2086A
c.C1249A		p.Q696K
p.Q417K		26.0-Dingemans2022 GET
CHD8     Dingemans2022:19chr14:
21882537-21882537		CAexonicUnknownstopgainNM_001170629
NM_020920		c.G2065T
c.G1228T		p.E689X
p.E410X		42.0-Dingemans2022 GET
CHD8     Dingemans2022:65chr14:
21878144-21878144		CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.G2230A
c.G1393A		p.V744I
p.V465I		28.8-Dingemans2022 GET
CHD8     Dingemans2022:41chr14:
21882462-21882462		CAexonicUnknownstopgainNM_001170629
NM_020920		c.G2140T
c.G1303T		p.E714X
p.E435X		42.0-Dingemans2022 GET
CHD8     Dingemans2022:44chr14:
21871607-21871607		CGintronicUnknown--Dingemans2022 GET
CHD8     Dingemans2022:16chr14:
21871628-21871628		ATexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.T3502A
c.T2665A		p.Y1168N
p.Y889N		20.1-Dingemans2022 GET
CHD8     Dingemans2022:45chr14:
21871361-21871361		CCTTexonicUnknownframeshift insertionNM_001170629
NM_020920		c.3528_3529insAA
c.2691_2692insAA		p.E1177fs
p.E898fs		--Dingemans2022 GET
CHD8     Dingemans2022:4chr14:
21871373-21871373		TCsplicingUnknownsplicing19.43-Dingemans2022 GET
CHD8     Dingemans2022:60chr14:
21876489-21876489		CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.G2712A
c.G1875A		p.M904I
p.M625I		18.24-Dingemans2022 GET
CHD8     Dingemans2022:23chr14:
21876495-21876495		ACexonicUnknownstopgainNM_001170629
NM_020920		c.T2706G
c.T1869G		p.Y902X
p.Y623X		16.45-Dingemans2022 GET
CHD8     Dingemans2022:25chr14:
21873918-21873920		ACTAAexonicUnknownframeshift substitutionNM_001170629
NM_020920		c.3011_3012T
c.2174_2175T		N/A
N/A		--Dingemans2022 GET
CHD8     Dingemans2022:82chr14:
21875117-21875124		AGGACAATAAAexonicUnknownframeshift substitutionNM_001170629
NM_020920		c.2798_2804TT
c.1961_1967TT		N/A
N/A		--Dingemans2022 GET
CHD8     Dingemans2022:21chr14:
21870653-21870653		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C3724T
c.C2887T		p.R1242X
p.R963X		37.0-Dingemans2022 GET
CHD8     Dingemans2022:97chr14:
21871225-21871225		TAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.A3665T
c.A2828T		p.D1222V
p.D943V		20.8-Dingemans2022 GET
CHD8     Dingemans2022:95chr14:
21870169-21870169		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C4009T
c.C3172T		p.R1337X
p.R1058X		36.0-Dingemans2022 GET
CHD8     Dingemans2022:88chr14:
21870256-21870256		TCexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.A3922G
c.A3085G		p.R1308G
p.R1029G		18.16-Dingemans2022 GET
CHD8     Dingemans2022:104chr14:
21871328-21871328		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C3562T
c.C2725T		p.R1188X
p.R909X		36.0-Dingemans2022 GET
CHD8     Dingemans2022:17chr14:
21871328-21871328		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C3562T
c.C2725T		p.R1188X
p.R909X		36.0-Dingemans2022 GET
CHD8     Dingemans2022:29chr14:
21871273-21871273		ACexonicUnknownstopgainNM_001170629
NM_020920		c.T3617G
c.T2780G		p.L1206X
p.L927X		34.0-Dingemans2022 GET
CHD8     Dingemans2022:36chr14:
21871315-21871315		AGexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.T3575C
c.T2738C		p.I1192T
p.I913T		19.25-Dingemans2022 GET
CHD8     Dingemans2022:58chr14:
21868219-21868219		GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.C4738T
c.C3901T		p.R1580W
p.R1301W		15.94-Dingemans2022 GET
CHD8     Dingemans2022:89chr14:
21868619-21868619		ACexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.T4523G
c.T3686G		p.I1508S
p.I1229S		19.82-Dingemans2022 GET
CHD8     Dingemans2022:64chr14:
21867866-21867866		TGsplicingUnknownsplicing17.66-Dingemans2022 GET
CHD8     Dingemans2022:18chr14:
21867865-21867865		CTsplicingUnknownsplicing19.1-Dingemans2022 GET
CHD8     Dingemans2022:46chr14:
21869641-21869643		TCTTexonicUnknownframeshift deletionNM_001170629
NM_020920		c.4092_4093del
c.3255_3256del		p.T1364fs
p.T1085fs		--Dingemans2022 GET
CHD8     Dingemans2022:72chr14:
21870111-21870111		CGintronicUnknown--Dingemans2022 GET
CHD8     Dingemans2022:54chr14:
21868728-21868728		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C4414T
c.C3577T		p.R1472X
p.R1193X		33.0-Dingemans2022 GET
CHD8     Dingemans2022:24chr14:
21869146-21869148		AGAAexonicUnknownframeshift deletionNM_001170629
NM_020920		c.4256_4257del
c.3419_3420del		p.F1419fs
p.F1140fs		--Dingemans2022 GET
CHD8     Dingemans2022:48chr14:
21862434-21862434		AGsplicingUnknownsplicing14.93-Dingemans2022 GET
CHD8     Dingemans2022:62chr14:
21862535-21862535		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C5500T
c.C4663T		p.R1834X
p.R1555X		46.0-Dingemans2022 GET
CHD8     Dingemans2022:101chr14:
21899747-21899749		GAGGexonicUnknownframeshift deletionNM_001170629c.54_55delp.D18fs--Dingemans2022 GET
CHD8     Dingemans2022:71chr14:
21862158-21862158		CCAAGCexonicUnknownframeshift insertionNM_001170629
NM_020920		c.5795_5796insGCTT
c.4958_4959insGCTT		p.E1932fs
p.E1653fs		--Dingemans2022 GET
CHD8     Dingemans2022:15chr14:
21866049-21866049		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C4984T
c.C4147T		p.R1662X
p.R1383X		45.0-Dingemans2022 GET
CHD8     Dingemans2022:91chr14:
21867787-21867787		GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.C4895T
c.C4058T		p.S1632L
p.S1353L		22.6-Dingemans2022 GET
CHD8     Dingemans2022:39chr14:
21899270-21899287		ATTTGTGCCACATGGGCAAexonicUnknownframeshift deletionNM_001170629c.516_532delp.G172fs--Dingemans2022 GET
CHD8     Dingemans2022:63chr14:
21865980-21865980		ATsplicingUnknownsplicing15.92-Dingemans2022 GET
CHD8     Dingemans2022:80chr14:
21860788-21860788		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C6649T
c.C5812T		p.R2217X
p.R1938X		48.0-Dingemans2022 GET
CHD8     Dingemans2022:74chr14:
21860788-21860788		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C6649T
c.C5812T		p.R2217X
p.R1938X		48.0-Dingemans2022 GET
CHD8     Dingemans2022:75chr14:
21859633-21859633		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C7054T
c.C6217T		p.R2352X
p.R2073X		49.08.614E-6Dingemans2022 GET
CHD8     Dingemans2022:81chr14:
21860788-21860788		GAexonicUnknownstopgainNM_001170629
NM_020920		c.C6649T
c.C5812T		p.R2217X
p.R1938X		48.0-Dingemans2022 GET
CHD8     Dingemans2022:84chr14:
21861683-21861684		AGAexonicUnknownframeshift deletionNM_001170629
NM_020920		c.6270delC
c.5433delC		p.S2090fs
p.S1811fs		--Dingemans2022 GET
CHD8     Dingemans2022:78chr14:
21862062-21862062		ACexonicUnknownstopgainNM_001170629
NM_020920		c.T5892G
c.T5055G		p.Y1964X
p.Y1685X		45.0-Dingemans2022 GET
CHD8     Dingemans2022:59chr14:
21899168-21899168		CTexonicUnknownnonsynonymous SNVNM_001170629c.G635Ap.R212Q22.62.586E-5Dingemans2022 GET
CHD8     Dingemans2022:102chr14:
21861683-21861684		AGAexonicUnknownframeshift deletionNM_001170629
NM_020920		c.6270delC
c.5433delC		p.S2090fs
p.S1811fs		--Dingemans2022 GET
CHD8     Dingemans2022:100chr14:
21899052-21899052		GAexonicUnknownstopgainNM_001170629c.C751Tp.Q251X37.0-Dingemans2022 GET
CHD8     Dingemans2022:33chr14:
21859174-21859174		TTTexonicUnknownframeshift insertionNM_001170629
NM_020920		c.7114dupA
c.6277dupA		p.N2372fs
p.N2093fs		--Dingemans2022 GET
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
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