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Mutation Direct

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Gene: POLE & Disease: CRC, 48 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
221000	POLE	c.861T>A	p.Asp287Glu (p.D287E)	NM_006231.4 M	SNV	LB	2 +	9
224588	POLE	c.844C>T	p.Pro282Ser (p.P282S)	NM_006231.4 M	SNV	LB	3 +	7
959922	POLE	c.579-2A>G	--	NM_006231.4 M	SNV	P	2 +	4
240391	POLE	c.139C>T	p.Arg47Trp (p.R47W)	NM_006231.4 M	SNV	LB	2 +	4
240480	POLE	c.3851G>A	p.Arg1284Gln (p.R1284Q)	NM_006231.4 M	SNV	LB	2 +	4
240525	POLE	c.4523G>A	p.Arg1508His (p.R1508H)	NM_006231.4 M	SNV	LB	3 +	4
405854	POLE	c.5761A>G	p.Asn1921Asp (p.N1921D)	NM_006231.4 M	SNV	VUS	3 +	4
220785	POLE	c.2174-8G>A	--	NM_006231.4 M	SNV	LB	2 +	4
1050781	POLE	c.4375G>T	p.Glu1459Ter (p.E1459X)	NM_006231.4 M	SNV	P	4 +	3
405705	POLE	c.6274G>A	p.Gly2092Ser (p.G2092S)	NM_006231.4 M	SNV	LB	2 +	3
240388	POLE	c.1347G>A	p.Thr449= (p.T449=)	NM_006231.4 M	SNV	LB	2 +	3
240495	POLE	c.3971G>A	p.Arg1324His (p.R1324H)	NM_006231.4 M	SNV	VUS	2 +	3
240560	POLE	c.5496T>C	p.Leu1832= (p.L1832=)	NM_006231.4 M	SNV	LB	2 +	3
240588	POLE	c.6257T>C	p.Met2086Thr (p.M2086T)	NM_006231.4 M	SNV	VUS	2 +	3
240598	POLE	c.6495C>T	p.Arg2165= (p.R2165=)	NM_006231.4 M	SNV	LB	4 +	3
405644	POLE	c.6716C>T	p.Ala2239Val (p.A2239V)	NM_006231.4 M	SNV	LB	2 +	3
380225	POLE	c.2340G>A	p.Ser780= (p.S780=)	NM_006231.4 M	SNV	LB	2 +	3
380226	POLE	c.4290+5C>T	--	NM_006231.4 M	SNV	LB	2 +	3
380432	POLE	c.3126G>A	p.Lys1042= (p.K1042=)	NM_006231.4 M	SNV	LB	2 +	3
413598	POLE	c.155G>A	p.Arg52Gln (p.R52Q)	NM_006231.4 M	SNV	LB	2 +	3

48 Results, 20 per Page

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