Variant Results

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Results for "CD302"

Variant Events: 6

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
CD302	Lim2017:11943	chr2: 160637506-160637506	G	A	exonic		De novo	nonsynonymous SNV	NM_001198764 NM_001198763 NM_014880 NM_001198760 NM_001198759	c.C71T c.C182T c.C182T c.C4937T c.C5105T	p.A24V p.A61V p.A61V p.A1646V p.A1702V	24.6	2.536E-5	Lim2017 E
CD302	2-1176-003	chr2: 160641918-160641918	G	C	intronic		De novo					-	-	Yuen2017 G
CD302	TRE_2562	chr2: 160628550-160628550	T	C	exonic		De novo	nonsynonymous SNV	NM_001198763 NM_001198764 NM_014880 NM_001198760 NM_001198759	c.A337G c.A400G c.A511G c.A5266G c.A5434G	p.I113V p.I134V p.I171V p.I1756V p.I1812V	16.01	8.321E-6	Fu2022 E
CD302	7-0464-003	chr2: 160631466-160631466	C	T	intronic		De novo					-	-	Trost2022 G Trost2022 G
CD302	MSSNG00196-003	chr2: 160634928-160634928	G	T	intronic		De novo					-	-	Trost2022 G Trost2022 G
CD302	133-08-109557	chr2: 160654593-160654593	G	A	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G

Source Variant Information

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Paper Information

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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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