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Gene: CFB & Disease: CFBD, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
829990	CFB	c.1374G>A	p.Met458Ile (p.M458I)	NM_001710.6 M	SNV	P	4 +	6
225313	CFB	c.1598A>G	p.Lys533Arg (p.K533R)	NM_001710.6 M	SNV	LB	6 +	3
16077	CFB	c.26T>A	p.Leu9His (p.L9H)	NM_001710.6 M	SNV	P	6 +	3
225314	CFB	c.1697A>C	p.Glu566Ala (p.E566A)	NM_001710.6 M	SNV	LB	5 +	2
356284	CFB	c.1137C>T	p.Arg379= (p.R379=)	NM_001710.6 M	SNV	LB	7 +	2
92246	CFB	c.766C>T	p.Gln256Ter (p.Q256X)	NM_001710.6 M	SNV	P	1 +	1
92247	CFB	c.1895_1898del	p.Phe632fs (p.F632fs)	NM_001710.6 M	Del	P	1 +	1
16076	CFB	c.94C>T	p.Arg32Trp (p.R32W)	NM_001710.6 M	SNV	LB	7 +	1
1575611	CFB	c.1778+8C>T	--	NM_001710.6 M	SNV	LB	3 +	0
2439926	CFB	c.124del	p.Gly41_Val42insTer	NM_001710.6 M	Del	VUS	1 +	0
973630	CFB	c.1198A>G	p.Thr400Ala (p.T400A)	NM_001710.6 M	SNV	VUS	1 +	0
992561	CFB	c.658+7T>C	--	NM_001710.6 M	SNV	B	3 +	0
1209734	CFB	c.2140-74A>G	--	NM_001710.6 M	SNV	B	2 +	0
356267	CFB	c.-3G>A	--	NM_001710.6 M	SNV	VUS	4 +	0
356272	CFB	c.450A>G	p.Arg150= (p.R150=)	NM_001710.6 M	SNV	B	4 +	0
356295	CFB	c.2100C>T	p.Gly700= (p.G700=)	NM_001710.6 M	SNV	LB	4 +	0

共16个结果, 每页展示20条

1

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