Variant Results

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Results for "CEP72"

Variant Events: 10

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
CEP72	PN400115	chr5: 635530-635530	T	C	exonic		De novo	synonymous SNV	NM_018140	c.T735C	p.C245C	12.03	-	Leblond2019 E
CEP72	1-0405-003	chr5: 645143-645146	CCTT	C	intronic		De novo					-	-	Yuen2017 G
CEP72	AU2592303	chr5: 639234-639234	G	A	exonic		De novo	nonsynonymous SNV	NM_018140	c.G1237A	p.G413R	4.852	1.669E-5	Fu2022 E
CEP72	3-0392-000	chr5: 623235-623237	CAG	C	intronic		De novo					-	-	Yuen2016 G
CEP72	SP0121825	chr5: 639406-639406	G	A	intronic		De novo					-	-	Fu2022 E
CEP72	SP0102139	chr5: 620235-620235	A	G	exonic		De novo	nonsynonymous SNV	NM_018140	c.A262G	p.I88V	3.973	-	Fu2022 E
CEP72	1-0675-003	chr5: 646910-646910	G	A	intronic		De novo					-	-	Yuen2017 G
CEP72	A11056-3	Complex Event; expand row to view variants					Unknown	frameshift insertion	NM_018140 NM_018140	c.217_218insG c.218_219insAT	p.Q73fs p.Q73fs	-	6.654E-5	Li2017 T Li2017 T
CEP72	Li2017:17558	chr5: 624597-624597	G	A	exonic		Unknown	nonsynonymous SNV	NM_018140	c.G415A	p.V139M	16.52	2.476E-5	Li2017 T
CEP72	AU3951302	chr5: 628682-628682	T	G	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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.
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