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Gene: GNB3 & Disease: CSNB1H, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
226004	GNB3	c.825C>T	p.Ser275= (p.S275=)	NM_002075.4 M	SNV	B	2 +	8
226004	GNB3	c.822C>T	p.Ser274= (p.S274=)	NM_001297571.2	SNV	B	2 +	8
242984	GNB3	c.1017G>A	p.Trp339Ter (p.W339X)	NM_002075.4 M	SNV	P	1 +	1
242986	GNB3	c.200C>T	p.Ser67Phe (p.S67F)	NM_002075.4 M	SNV	P	1 +	1
242985	GNB3	c.170_172del	p.Lys57Del (p.K57del)	NM_002075.4 M	Del	P	1 +	1
242984	GNB3	c.1014G>A	p.Trp338Ter (p.W338X)	NM_001297571.2	SNV	P	1 +	1
242986	GNB3	c.200C>T	p.Ser67Phe (p.S67F)	NM_001297571.2	SNV	P	1 +	1
242985	GNB3	c.170_172del	p.Lys57Del (p.K57del)	NM_001297571.2	Del	P	1 +	1

共8个结果, 每页展示20条

1

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