Variant Results

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Results for "EXD2"

Variant Events: 7

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
EXD2	13093.p1	chr14: 69701564-69701564	G	C	exonic		Mosaic	nonsynonymous SNV	NM_018199 NM_001193361 NM_001193363 NM_001193360 NM_001193362	c.G490C c.G865C c.G865C c.G865C c.G865C	p.D164H p.D289H p.D289H p.D289H p.D289H	25.9	-	Dou2017 E Krupp2017 E Lim2017 E
EXD2	12623.p1	chr14: 69704192-69704192	T	C	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E
EXD2	7-0253-005	chr14: 69663118-69663124	TTCATCA	TTCA	intronic		De novo					-	-	Yuen2017 G
EXD2	13864.p1	chr14: 69704538-69704538	G	C	exonic		De novo	nonsynonymous SNV	NM_018199 NM_001193361 NM_001193363 NM_001193360 NM_001193362	c.G1164C c.G1539C c.G1539C c.G1539C c.G1539C	p.E388D p.E513D p.E513D p.E513D p.E513D	7.915	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
EXD2	14303.p1	chr14: 69719806-69719806	C	T	intergenic		De novo					-	-	Wilfert2021 G
EXD2	1-0007-003	chr14: 69667156-69667156	G	C	intronic		De novo					-	-	Yuen2017 G
EXD2	2-0319-004	chr14: 69686106-69686106	T	C	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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