Variant Results

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Results for "NCKAP5L"

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
NCKAP5L	NDAR_INVXP194LCA_wes1	chr12: 50188994-50188994	G	A	exonic		De novo	synonymous SNV	NM_001037806	c.C2649T	p.I883I	4.919	3.59E-5	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
NCKAP5L	13023.p1	chr12: 50201882-50201882	G	A	intronic		De novo					-	-	Turner2016 G
NCKAP5L	SP0108196	chr12: 50187190-50187190	T	G	exonic		De novo	nonsynonymous SNV	NM_001037806	c.A3285C	p.E1095D	11.31	-	Fu2022 E
NCKAP5L	13290_p1	chr12: 50188719-50188719	G	A	exonic		De novo	nonsynonymous SNV	NM_001037806	c.C2924T	p.A975V	21.4	-	Fu2022 E
NCKAP5L	Codina-Sola2015:ASD_33	chr12: 50189175-50189175	G	T	exonic		Maternal	nonsynonymous SNV	NM_001037806	c.C2468A	p.P823Q	20.3	-	Codina-Sola2015 E
NCKAP5L	SP0035843	chr12: 50188978-50188978	T	C	exonic		De novo	nonsynonymous SNV	NM_001037806	c.A2665G	p.K889E	18.25	-	Fu2022 E Trost2022 G Zhou2022 GE
NCKAP5L	MSSNG00344-004	chr12: 50205327-50205327	G	A	intronic		De novo					-	-	Trost2022 G
NCKAP5L	2-1425-004	chr12: 50213239-50213239	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
NCKAP5L	11698.p1	chr12: 50190688-50190688	C	T	exonic			nonsynonymous SNV	NM_001037806	c.G955A	p.G319S	15.36	2.291E-5	Zhou2022 GE
NCKAP5L	13290.p1	chr12: 50188719-50188719	G	A	exonic		De novo	nonsynonymous SNV	NM_001037806	c.C2924T	p.A975V	21.4	-	Ji2016 E Krumm2015 E Satterstrom2020 E Trost2022 G Zhou2022 GE

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Paper Information

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