Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: SOX10 & Disease: WS2A, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
488044	SOX10	c.44_62delTGGGCTCGGAGGAGCCCCG	--	NM_006941.4 M	Del	P	2 +	2
488044	SOX10	c.44_62del	p.Val15fs (p.V15fs)	NM_006941.4 M	Del	P	2 +	2
488041	SOX10	c.1091del	p.Gln364fs (p.Q364fs)	NM_006941.4 M	Del	LP	1 +	1
488042	SOX10	c.430del	p.Leu144fs (p.L144fs)	NM_006941.4 M	Del	LP	1 +	1
488043	SOX10	c.403A>C	p.Ser135Arg (p.S135R)	NM_006941.4 M	SNV	LP	1 +	1

5 Results, 20 per Page

1

Comparison

Back to top