Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: CDC73 & Disease: HRPT1, 142 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
658835	CDC73	c.664C>T	p.Arg222Ter (p.R222X)	NM_024529.5 M	SNV	P	3 +	9
3272	CDC73	c.191T>C	p.Leu64Pro (p.L64P)	NM_024529.5 M	SNV	P	2 +	5
3276	CDC73	c.131+1G>A	--	NM_024529.5 M	SNV	P	3 +	5
846304	CDC73	c.271C>T	p.Arg91Ter (p.R91X)	NM_024529.5 M	SNV	P	2 +	4
3270	CDC73	c.679_680insAG	p.Arg227fs (p.R227fs)	NM_024529.5 M	Ins	P	3 +	4
241496	CDC73	c.687_688dup	p.Val230fs (p.V230fs)	NM_024529.5 M	MS	P	3 +	3
649933	CDC73	c.1066+5G>A	--	NM_024529.5 M	SNV	VUS	3 +	2
241495	CDC73	c.33C>T	p.Tyr11= (p.Y11=)	NM_024529.5 M	SNV	LB	3 +	2
41848	CDC73	c.1304T>C	p.Met435Thr (p.M435T)	NM_024529.5 M	SNV	LB	4 +	1
21681	CDC73	c.1066+8T>C	--	NM_024529.5 M	SNV	LB	3 +	1
241491	CDC73	c.1185A>G	p.Gln395= (p.Q395=)	NM_024529.5 M	SNV	LB	3 +	1
241494	CDC73	c.1333G>A	p.Val445Ile (p.V445I)	NM_024529.5 M	SNV	LB	3 +	1
241498	CDC73	c.840G>A	p.Leu280= (p.L280=)	NM_024529.5 M	SNV	LB	3 +	1
21680	CDC73	c.-11G>A	--	NM_024529.5 M	SNV	LB	4 +	1
876559	CDC73	c.*1292C>T	--	NM_024529.5 M	SNV	VUS	3 +	0
876609	CDC73	c.*1660A>G	--	NM_024529.5 M	SNV	VUS	3 +	0
876699	CDC73	c.*2801A>G	--	NM_024529.5 M	SNV	VUS	3 +	0
860535	CDC73	c.728A>T	p.Lys243Met (p.K243M)	NM_024529.5 M	SNV	VUS	3 +	0
844706	CDC73	c.450A>G	p.Lys150= (p.K150=)	NM_024529.5 M	SNV	LB	3 +	0
1025146	CDC73	c.823C>T	p.Pro275Ser (p.P275S)	NM_024529.5 M	SNV	VUS	3 +	0

142 Results, 20 per Page

Comparison