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Mutation Direct

Effortless mutation search and display tool

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Gene: BBS9 & Disease: BBS, 8848 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
266106	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_198428.3 M	SNV	P	1 +	5
266088	BBS9	c.2115+1G>A	--	NM_198428.3 M	SNV	P	1 +	5
266106	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_001033604.2	SNV	P	1 +	5
	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_001033605.2	SNV	P	1 +	5
	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_001348036.1	SNV	P	1 +	5
	BBS9	c.-79C>T	--	NM_001348037.3	SNV	P	1 +	5
	BBS9	c.-55C>T	--	NM_001348038.3	SNV	P	1 +	5
	BBS9	c.-55C>T	--	NM_001348039.3	SNV	P	1 +	5
	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_001348040.3	SNV	P	1 +	5
	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_001348041.4	SNV	P	1 +	5
	BBS9	c.88C>T	p.Arg30Ter (p.R30X)	NM_001348042.3	SNV	P	1 +	5
	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_001348043.3	SNV	P	1 +	5
	BBS9	c.-79C>T	--	NM_001348045.3	SNV	P	1 +	5
	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_001362679.1	SNV	P	1 +	5
	BBS9	c.223C>T	p.Arg75Ter (p.R75X)	NM_014451.4	SNV	P	1 +	5
	BBS9	c.-39+22770C>T	--	NM_001348046.3	SNV	P	1 +	5
	BBS9	c.-39+22770C>T	--	NM_001348044.3	SNV	P	1 +	5
266088	BBS9	c.2100+1G>A	--	NM_001033605.2	SNV	P	1 +	5
	BBS9	c.2010+1G>A	--	NM_001033604.2	SNV	P	1 +	5
	BBS9	c.1995+1G>A	--	NM_014451.4	SNV	P	1 +	5

8848 Results, 20 per Page

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