Variant Results

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Results for "CA9"

Variant Events: 7

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
CA9	11085.p1	chr9: 35676349-35676349	G	A	exonic		De novo	nonsynonymous SNV	NM_001216	c.G803A	p.R268H	12.23	8.328E-6	Ji2016 E Krumm2015 E Zhou2022 GE
CA9	1599001	chr9: 35673972-35673972	C	T	exonic		De novo	nonsynonymous SNV	NM_001216	c.C16T	p.P6S	13.62	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
CA9	14055.p1	chr9: 35680802-35680802	G	A	exonic		Mosaic	synonymous SNV	NM_001216	c.G1290A	p.A430A	-	2.471E-5	Krupp2017 E
CA9	SP0121673	chr9: 35675654-35675654	G	GT	intronic		De novo					-	-	Fu2022 E
CA9	SP0137578	chr9: 35674111-35674111	G	A	exonic		De novo	nonsynonymous SNV	NM_001216	c.G155A	p.G52D	3.104	-	Fu2022 E Trost2022 G Zhou2022 GE
CA9	SP0127620	chr9: 35674406-35674406	C	A	intronic		De novo					-	-	Fu2022 E Trost2022 G
CA9	mAGRE4842	chr9: 35674058-35674059	TG	T	exonic		Paternal	frameshift deletion	NM_001216	c.103delG	p.V35fs	-	1.0E-4	Cirnigliaro2023 G

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Paper Information

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