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Mutation Direct

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Gene: CYBA & Disease: CGD4, 329 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2259	CYBA	c.354C>A	p.Ser118Arg (p.S118R)	NM_000101.4 M	SNV	P	2 +	11
2137853	CYBA	c.295_301del	p.Val99fs (p.V99fs)	NM_000101.4 M	Del	P	1 +	8
2258	CYBA	c.269G>A	p.Arg90Gln (p.R90Q)	NM_000101.4 M	SNV	P	1 +	6
2264	CYBA	c.7C>T	p.Gln3Ter (p.Q3X)	NM_000101.4 M	SNV	P	2 +	6
2263	CYBA	c.214T>C	p.Tyr72His (p.Y72H)	NM_000101.4 M	SNV	LP	2 +	5
1489230	CYBA	c.59-2A>T	--	NM_000101.4 M	SNV	LP	1 +	5
953311	CYBA	c.204-2A>G	--	NM_000101.4 M	SNV	P	2 +	5
1072119	CYBA	c.166dup	p.Arg56fs (p.R56fs)	NM_000101.4 M	Dup	P	2 +	5
965927	CYBA	c.287+2T>C	--	NM_000101.4 M	SNV	P	2 +	5
593535	CYBA	c.288-3_300del	--	NM_000101.4 M	Del	LP	2 +	5
2137856	CYBA	c.287+1G>T	--	NM_000101.4 M	SNV	P	1 +	5
2098988	CYBA	c.288-1G>T	--	NM_000101.4 M	SNV	LP	1 +	5
643066	CYBA	c.58+4_58+7del	--	NM_000101.4 M	MS	P	1 +	5
1067149	CYBA	c.287+2_287+3del	--	NM_000101.4 M	MS	LP	1 +	4
862425	CYBA	c.26G>A	p.Trp9Ter (p.W9X)	NM_000101.4 M	SNV	P	1 +	4
2265	CYBA	c.70G>A	p.Gly24Arg (p.G24R)	NM_000101.4 M	SNV	P	2 +	4
68211	CYBA	c.268C>T	p.Arg90Trp (p.R90W)	NM_000101.4 M	SNV	P	2 +	4
1068108	CYBA	c.129-1G>T	--	NM_000101.4 M	SNV	LP	1 +	4
1066381	CYBA	c.369+1G>A	--	NM_000101.4 M	SNV	LP	1 +	4
1066409	CYBA	c.345del	p.Ile116fs (p.I116fs)	NM_000101.4 M	Del	LP	1 +	4

329 Results, 20 per Page

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