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Gene: BRCA2 & Disease: CHDM, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
38155	BRCA2	c.8350C>T	p.Arg2784Trp (p.R2784W)	NM_000059.4 M	SNV	P	3 +	36
51493	BRCA2	c.3599_3600del	p.Asp1199_Cys1200insTer	NM_000059.4 M	Del	P	7 +	25
37942	BRCA2	c.5070A>C	p.Lys1690Asn (p.K1690N)	NM_000059.4 M	SNV	LB	9 +	19
38104	BRCA2	c.7565C>T	p.Ser2522Phe (p.S2522F)	NM_000059.4 M	SNV	LB	3 +	11
52248	BRCA2	c.7010C>T	p.Thr2337Ile (p.T2337I)	NM_000059.4 M	SNV	LB	3 +	10
38139	BRCA2	c.8117A>G	p.Asn2706Ser (p.N2706S)	NM_000059.4 M	SNV	LB	3 +	9
96793	BRCA2	c.3517A>T	p.Ile1173Phe (p.I1173F)	NM_000059.4 M	SNV	LB	3 +	3
41551	BRCA2	c.4779A>C	p.Glu1593Asp (p.E1593D)	NM_000059.4 M	SNV	LB	3 +	2
1697217	BRCA2	c.2141A>C	p.Glu714Ala (p.E714A)	NM_000059.4 M	SNV	LB	1 +	1
1697216	BRCA2	c.6902A>G	p.Glu2301Gly (p.E2301G)	NM_000059.4 M	SNV	VUS	1 +	0
1697218	BRCA2	c.2143G>T	p.Gly715Ter (p.G715X)	NM_000059.4 M	SNV	VUS	1 +	0

11 Results, 20 per Page

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