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Mutation Direct

Effortless mutation search and display tool

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Gene: CDC73 & Disease: PRTC, 1019 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
279741	CDC73	c.226C>T	p.Arg76Ter (p.R76X)	NM_024529.5 M	SNV	P	1 +	6
1074700	CDC73	c.415C>T	p.Arg139Ter (p.R139X)	NM_024529.5 M	SNV	P	1 +	6
403882	CDC73	c.237+1G>C	--	NM_024529.5 M	SNV	P	1 +	5
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
1076788	CDC73	c.687_688del	p.Arg229fs (p.R229fs)	NM_024529.5 M	MS	P	2 +	5
582687	CDC73	c.1A>G	p.Met1Val (p.M1V)	NM_024529.5 M	SNV	P	1 +	4
846304	CDC73	c.271C>T	p.Arg91Ter (p.R91X)	NM_024529.5 M	SNV	P	2 +	4
642112	CDC73	c.358C>T	p.Arg120Ter (p.R120X)	NM_024529.5 M	SNV	P	1 +	4
3270	CDC73	c.679_680insAG	p.Arg227fs (p.R227fs)	NM_024529.5 M	Ins	P	3 +	4
1455290	CDC73	c.131+1G>T	--	NM_024529.5 M	SNV	P	1 +	4
988553	CDC73	c.700C>T	p.Arg234Ter (p.R234X)	NM_024529.5 M	SNV	P	1 +	4
1450290	CDC73	c.307+5G>T	--	NM_024529.5 M	SNV	VUS	1 +	3
241496	CDC73	c.687_688dup	p.Val230fs (p.V230fs)	NM_024529.5 M	MS	P	3 +	3
429954	CDC73	c.85G>T	p.Glu29Ter (p.E29X)	NM_024529.5 M	SNV	P	1 +	3
462760	CDC73	c.376C>T	p.Arg126Ter (p.R126X)	NM_024529.5 M	SNV	P	1 +	3
430013	CDC73	c.423+1G>A	--	NM_024529.5 M	SNV	P	1 +	3
864409	CDC73	c.1135G>A	p.Asp379Asn (p.D379N)	NM_024529.5 M	SNV	VUS	1 +	3
21682	CDC73	c.1418-17C>G	--	NM_024529.5 M	SNV	B	2 +	3

1019 Results, 20 per Page

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