Variant Results

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Results for "APAF1"

Variant Events: 8

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
APAF1	AU2381302	chr12: 99126290-99126290	A	G	exonic		De novo	synonymous SNV	NM_001160 NM_181868 NM_013229 NM_181861	c.A3531G c.A3564G c.A3660G c.A3693G	p.T1177T p.T1188T p.T1220T p.T1231T	-	-	Yuen2017 G
APAF1	09C90228	chr12: 99126290-99126290	A	G	exonic		De novo	synonymous SNV	NM_001160 NM_181868 NM_013229 NM_181861	c.A3531G c.A3564G c.A3660G c.A3693G	p.T1177T p.T1188T p.T1220T p.T1231T	-	-	Satterstrom2020 E
APAF1	AU076509	chr12: 99038871-99038871	G	T	upstream		De novo					-	-	Yuen2017 G
APAF1	AU3862305	chr12: 99105131-99105131	G	C	intronic		De novo					-	-	Yuen2017 G
APAF1	2-0300-003	chr12: 99083705-99083705	T	G	intronic		De novo					-	-	Yuen2017 G
APAF1	11722.p1	chr12: 99076979-99076979	T	C	exonic		De novo	nonsynonymous SNV	NM_001160 NM_013229 NM_181861 NM_181868	c.T2072C c.T2072C c.T2105C c.T2105C	p.V691A p.V691A p.V702A p.V702A	24.3	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G
APAF1	2-0296-004	chr12: 99039073-99039073	C	G	upstream		De novo					-	-	Yuen2017 G
APAF1	Lim2017:5432	chr12: 99076979-99076979	T	C	exonic		De novo	nonsynonymous SNV	NM_001160 NM_013229 NM_181861 NM_181868	c.T2072C c.T2072C c.T2105C c.T2105C	p.V691A p.V691A p.V702A p.V702A	24.3	-	Lim2017 E

Source Variant Information

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Paper Information

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