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Mutation Direct

Effortless mutation search and display tool

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Gene: TAF6 & Disease: BDLS, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
180203	TAF6	c.136C>T	p.Arg46Cys (p.R46C)	NM_139315.3 M	SNV	P	3 +	1
	TAF6	c.247C>T	p.Arg83Cys (p.R83C)	NM_001190415.2	SNV	P	3 +	1
	TAF6	c.136C>T	p.Arg46Cys (p.R46C)	NM_001364998.1	SNV	P	3 +	1
	TAF6	c.136C>T	p.Arg46Cys (p.R46C)	NM_001364999.1	SNV	P	3 +	1
	TAF6	c.274C>T	p.Arg92Cys (p.R92C)	NM_001365004.1	SNV	P	3 +	1
	TAF6	c.136C>T	p.Arg46Cys (p.R46C)	NM_005641.4	SNV	P	3 +	1
	TAF6	c.126+10C>T	--	NM_001365001.1	SNV	P	3 +	1
	TAF6	c.126+10C>T	--	NM_001365000.1	SNV	P	3 +	1
	TAF6	c.126+10C>T	--	NM_001365003.1	SNV	P	3 +	1
	TAF6	c.126+10C>T	--	NM_001365002.1	SNV	P	3 +	1

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