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Gene: ADAM10 & Disease: DDD1, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
720402	ADAM10	c.326-10T>C	--	NM_001110.4 M	SNV	LB	3 +	2
720402	ADAM10	c.326-10T>C	--	NM_001320570.2	SNV	LB	3 +	2
88841	ADAM10	c.429T>A	p.Tyr143Ter (p.Y143X)	NM_001110.4 M	SNV	P	2 +	1
88842	ADAM10	c.1264del	p.Thr422fs (p.T422fs)	NM_001110.4 M	Del	P	2 +	1
88840	ADAM10	c.1511G>A	p.Ser504Asn (p.S504N)	NM_001110.4 M	SNV	P	2 +	1
88843	ADAM10	c.1571G>A	p.Cys524Tyr (p.C524Y)	NM_001110.4 M	SNV	P	2 +	1
88841	ADAM10	c.429T>A	p.Tyr143Ter (p.Y143X)	NM_001320570.2	SNV	P	2 +	1
88842	ADAM10	c.1171del	p.Thr391fs (p.T391fs)	NM_001320570.2	Del	P	2 +	1
88840	ADAM10	c.1418G>A	p.Ser473Asn (p.S473N)	NM_001320570.2	SNV	P	2 +	1
88843	ADAM10	c.1478G>A	p.Cys493Tyr (p.C493Y)	NM_001320570.2	SNV	P	2 +	1

共10个结果, 每页展示20条

1

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