Variant Results

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Results for "DAP3"

Variant Events: 9

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
DAP3	AC02-1140-01	chr1: 155707992-155707992	G	A	exonic		De novo	nonsynonymous SNV	NM_001199850 NM_001199851 NM_004632 NM_033657 NM_001199849	c.G1054A c.G1033A c.G1156A c.G1156A c.G1156A	p.A352T p.A345T p.A386T p.A386T p.A386T	2.661	3.306E-5	Lim2017 E
DAP3	mAGRE5254	chr1: 155701825-155701825	G	A	splicing		Maternal	splicing				22.0	1.09E-5	Cirnigliaro2023 G
DAP3	AU026604	chr1: 155669216-155669219	CTTT	CTTTT	intronic		De novo					-	-	Yuen2017 G
DAP3	14183_p1	chr1: 155706848-155706848	G	A	exonic		De novo	nonsynonymous SNV	NM_001199850 NM_001199851 NM_004632 NM_033657 NM_001199849	c.G1003A c.G982A c.G1105A c.G1105A c.G1105A	p.E335K p.E328K p.E369K p.E369K p.E369K	14.03	-	Fu2022 E
DAP3	1-1121-003	chr1: 155682925-155682925	T	C	intronic		De novo					-	-	Trost2022 G
DAP3	1-0414-005	chr1: 155660898-155660900	CCG	TCC	intronic		De novo					-	-	Trost2022 G
DAP3	2-1097-003	chr1: 155695178-155695178	G	C	exonic		De novo	nonsynonymous SNV	NM_001199850 NM_001199851 NM_004632 NM_033657 NM_001199849	c.G174C c.G153C c.G276C c.G276C c.G276C	p.K58N p.K51N p.K92N p.K92N p.K92N	14.42	-	Trost2022 G
DAP3	AU4152303	chr1: 155670310-155670316	GGGGCGG	GGG	intronic		De novo					-	-	Yuen2017 G
DAP3	14183.p1	chr1: 155706848-155706848	G	A	exonic		De novo	nonsynonymous SNV	NM_001199850 NM_001199851 NM_004632 NM_033657 NM_001199849	c.G1003A c.G982A c.G1105A c.G1105A c.G1105A	p.E335K p.E328K p.E369K p.E369K p.E369K	14.03	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE

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Paper Information

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