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Gene: MMP13 & Disease: MDST, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
183687	MMP13	c.619T>G	p.Trp207Gly (p.W207G)	NM_002427.4 M	SNV	P	1 +	3
9446	MMP13	c.694C>A	p.His232Asn (p.H232N)	NM_002427.4 M	SNV	P	1 +	2
183688	MMP13	c.325C>T	p.Arg109Ter (p.R109X)	NM_002427.4 M	SNV	P	1 +	2
301979	MMP13	c.1080T>C	p.Tyr360= (p.Y360=)	NM_002427.4 M	SNV	LB	3 +	2
301986	MMP13	c.799+7C>T	--	NM_002427.4 M	SNV	LB	3 +	2
548485	MMP13	c.1415_1416del	p.Ter472CysextTer?CysextTer (p.X472CysextTer?CysextTer)	NM_002427.4 M	Del	VUS	1 +	1
301974	MMP13	c.1372C>T	p.Arg458Cys (p.R458C)	NM_002427.4 M	SNV	LB	3 +	1
930588	MMP13	c.206G>T	p.Arg69Leu (p.R69L)	NM_002427.4 M	SNV	VUS	1 +	1

共8个结果, 每页展示20条

1

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