Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: CEP250 & Disease: CRDHL2, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
620660	CEP250	c.562C>T	p.Arg188Ter (p.R188X)	NM_007186.6 M	SNV	P	1 +	3
620662	CEP250	c.4006C>T	p.Arg1336Ter (p.R1336X)	NM_007186.6 M	SNV	P	1 +	3
620660	CEP250	c.-1338C>T	--	NM_001318219.1	SNV	P	1 +	3
620662	CEP250	c.2110C>T	p.Arg704Ter (p.R704X)	NM_001318219.1	SNV	P	1 +	3
708743	CEP250	c.2391C>T	p.Val797= (p.V797=)	NM_007186.6 M	SNV	LB	1 +	2
708743	CEP250	c.495C>T	p.Val165= (p.V165=)	NM_001318219.1	SNV	LB	1 +	2
620658	CEP250	c.3463C>T	p.Arg1155Ter (p.R1155X)	NM_007186.6 M	SNV	P	2 +	1
620659	CEP250	c.361C>T	p.Arg121Ter (p.R121X)	NM_007186.6 M	SNV	P	1 +	1
620661	CEP250	c.3337A>T	p.Lys1113Ter (p.K1113X)	NM_007186.6 M	SNV	P	1 +	1
620658	CEP250	c.1567C>T	p.Arg523Ter (p.R523X)	NM_001318219.1	SNV	P	2 +	1
620659	CEP250	c.-1539C>T	--	NM_001318219.1	SNV	P	1 +	1
620661	CEP250	c.1441A>T	p.Lys481Ter (p.K481X)	NM_001318219.1	SNV	P	1 +	1

12 Results, 20 per Page

1

Comparison

Back to top