Variant Results

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Results for "BTN2A1"

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
BTN2A1	iHART2623	chr6: 26466318-26466318	T	C	splicing		Paternal	splicing				11.88	1.647E-5	Ruzzo2019 G
BTN2A1	iHART2624	chr6: 26466318-26466318	T	C	splicing		Paternal	splicing				11.88	1.647E-5	Ruzzo2019 G
BTN2A1	iHART1307	chr6: 26468503-26468504	CT	C	exonic		Paternal	frameshift deletion	NM_001197233 NM_007049	c.1128delT c.1311delT	p.P376fs p.P437fs	-	1.0E-4	Ruzzo2019 G
BTN2A1	iHART2622	chr6: 26466318-26466318	T	C	splicing		Paternal	splicing				11.88	1.647E-5	Ruzzo2019 G
BTN2A1	200675776_1082034283	chr6: 26463682-26463682	T	C	exonic		De novo	nonsynonymous SNV	NM_001197233 NM_001197234 NM_007049 NM_078476	c.T458C c.T641C c.T641C c.T641C	p.V153A p.V214A p.V214A p.V214A	9.612	-	Fu2022 E
BTN2A1	200675776@1082034283	chr6: 26463682-26463682	T	C	exonic		De novo	nonsynonymous SNV	NM_001197233 NM_001197234 NM_007049 NM_078476	c.T458C c.T641C c.T641C c.T641C	p.V153A p.V214A p.V214A p.V214A	9.612	-	Satterstrom2020 E
BTN2A1	SP0062479	chr6: 26468483-26468483	A	C	exonic		De novo	nonsynonymous SNV	NM_001197233 NM_007049	c.A1107C c.A1290C	p.Q369H p.Q430H	1.04	-	Fu2022 E
BTN2A1	Chen2017:9	chr6: 26463682-26463682	T	C	exonic		De novo	nonsynonymous SNV	NM_001197233 NM_001197234 NM_007049 NM_078476	c.T458C c.T641C c.T641C c.T641C	p.V153A p.V214A p.V214A p.V214A	9.612	-	Chen2017 E
BTN2A1	AU3881302	chr6: 26467419-26467421	ACC	AC	intronic		De novo					-	-	Yuen2017 G
BTN2A1	G01-GEA-240-HI	chr6: 26459819-26459819	C	T	exonic		De novo	nonsynonymous SNV	NM_001197233 NM_001197234 NM_007049 NM_078476	c.C10T c.C193T c.C193T c.C193T	p.R4W p.R65W p.R65W p.R65W	16.52	-	Fu2022 E Satterstrom2020 E

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Paper Information

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