Variant Results

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Results for "CFAP100"

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
CFAP100	Chen2017:53	chr3: 126114864-126114864	T	C	exonic		De novo	synonymous SNV	NM_182628	c.T21C	p.T7T	-	-	Chen2017 E
CFAP100	mAGRE4904	chr3: 126153088-126153088	G	T	exonic		Maternal	stopgain	NM_182628	c.G1492T	p.E498X	34.0	-	Cirnigliaro2023 G
CFAP100	20-0607214-22	chr3: 126138985-126138985	C	T	exonic		De novo	nonsynonymous SNV	NM_182628	c.C995T	p.T332M	7.19	4.253E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
CFAP100	200675467_1082035000	chr3: 126114864-126114864	T	C	exonic		De novo	synonymous SNV	NM_182628	c.T21C	p.T7T	-	-	Fu2022 E
CFAP100	MSSNG00258-005	chr3: 126114867-126114868	AG	A	exonic		De novo	frameshift deletion	NM_182628	c.25delG	p.V9fs	-	-	Trost2022 G
CFAP100	1-0985-003	chr3: 126154467-126154467	C	T	exonic		De novo	nonsynonymous SNV	NM_182628	c.C1694T	p.A565V	13.72	4.231E-5	Trost2022 G Yuen2017 G Zhou2022 GE
CFAP100	200675467@1082035000	chr3: 126114864-126114864	T	C	exonic		De novo	synonymous SNV	NM_182628	c.T21C	p.T7T	-	-	Satterstrom2020 E Trost2022 G Zhou2022 GE
CFAP100	mAGRE4903	chr3: 126153088-126153088	G	T	exonic		Maternal	stopgain	NM_182628	c.G1492T	p.E498X	34.0	-	Cirnigliaro2023 G
CFAP100	mAGRE6056	chr3: 126133017-126133018	CT	C	exonic		Maternal	frameshift deletion	NM_182628	c.221delT	p.L74fs	-	-	Cirnigliaro2023 G
CFAP100	NDAR_INVNE346GDX_wes1	chr3: 126142429-126142429	G	A	exonic		De novo	nonsynonymous SNV	NM_182628	c.G1228A	p.E410K	21.9	-	Lim2017 E

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Paper Information

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