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Effortless mutation search and display tool

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Gene: BBS4 & Disease: BBS4, 425 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9147	BBS4	c.157-2A>G	--	NM_033028.5 M	SNV	P	2 +	9
	BBS4	c.157-2A>G	--	NM_001320665.2	SNV	P	2 +	9
	BBS4	c.-365-2A>G	--	NM_001252678.2	SNV	P	2 +	9
236484	BBS4	c.712-1G>A	--	NM_033028.5 M	SNV	P	3 +	6
	BBS4	c.643-1G>A	--	NM_001320665.2	SNV	P	3 +	6
	BBS4	c.196-1G>A	--	NM_001252678.2	SNV	P	3 +	6
1179101	BBS4	c.1375C>T	p.Gln459Ter (p.Q459X)	NM_033028.5 M	SNV	LP	1 +	5
2137734	BBS4	c.1180C>T	p.Gln394Ter (p.Q394X)	NM_033028.5 M	SNV	P	2 +	5
397593	BBS4	c.883C>T	p.Arg295Ter (p.R295X)	NM_033028.5 M	SNV	P	2 +	5
1209985	BBS4	c.777_778del	p.Tyr259_Arg260delinsTer	NM_033028.5 M	Del	P	4 +	5
1067554	BBS4	c.24+1G>T	--	NM_033028.5 M	SNV	LP	2 +	5
841735	BBS4	c.1248+1G>T	--	NM_033028.5 M	SNV	P	2 +	5
1179101	BBS4	c.859C>T	p.Gln287Ter (p.Q287X)	NM_001252678.2	SNV	LP	1 +	5
1179101	BBS4	c.1306C>T	p.Gln436Ter (p.Q436X)	NM_001320665.2	SNV	LP	1 +	5
2137734	BBS4	c.664C>T	p.Gln222Ter (p.Q222X)	NM_001252678.2	SNV	P	2 +	5
2137734	BBS4	c.1111C>T	p.Gln371Ter (p.Q371X)	NM_001320665.2	SNV	P	2 +	5
397593	BBS4	c.367C>T	p.Arg123Ter (p.R123X)	NM_001252678.2	SNV	P	2 +	5
397593	BBS4	c.814C>T	p.Arg272Ter (p.R272X)	NM_001320665.2	SNV	P	2 +	5
1209985	BBS4	c.261_262del	p.Tyr87_Arg88delinsTer	NM_001252678.2	Del	P	4 +	5
1209985	BBS4	c.708_709del	p.Tyr236_Arg237delinsTer	NM_001320665.2	Del	P	4 +	5

425 Results, 20 per Page

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