Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: PMS2 & Disease: HNPCC, 55005 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9245	PMS2	c.137G>T	p.Ser46Ile (p.S46I)	NM_000535.7 M	SNV	P	8 +	61
	PMS2	c.-269G>T	--	NM_001322003.2	SNV	P	8 +	61
	PMS2	c.-269G>T	--	NM_001322005.2	SNV	P	8 +	61
	PMS2	c.137G>T	p.Ser46Ile (p.S46I)	NM_001322006.2	SNV	P	8 +	61
	PMS2	c.-79G>T	--	NM_001322007.2	SNV	P	8 +	61
	PMS2	c.-269G>T	--	NM_001322009.2	SNV	P	8 +	61
	PMS2	c.-748G>T	--	NM_001322011.2	SNV	P	8 +	61
	PMS2	c.-748G>T	--	NM_001322012.2	SNV	P	8 +	61
	PMS2	c.-269G>T	--	NM_001322013.2	SNV	P	8 +	61
	PMS2	c.137G>T	p.Ser46Ile (p.S46I)	NM_001322014.2	SNV	P	8 +	61
	PMS2	c.-348G>T	--	NM_001322015.2	SNV	P	8 +	61
	PMS2	c.-52-1860G>T	--	NM_001322008.2	SNV	P	8 +	61
	PMS2	c.-242-1860G>T	--	NM_001322010.2	SNV	P	8 +	61
	PMS2	c.-242-1860G>T	--	NM_001322004.2	SNV	P	8 +	61
91328	PMS2	c.2113G>A	p.Glu705Lys (p.E705K)	NM_000535.7 M	SNV	P	3 +	36
	PMS2	c.1708G>A	p.Glu570Lys (p.E570K)	NM_001322003.2	SNV	P	3 +	36
	PMS2	c.1708G>A	p.Glu570Lys (p.E570K)	NM_001322004.2	SNV	P	3 +	36
	PMS2	c.1708G>A	p.Glu570Lys (p.E570K)	NM_001322005.2	SNV	P	3 +	36
	PMS2	c.1957G>A	p.Glu653Lys (p.E653K)	NM_001322006.2	SNV	P	3 +	36
	PMS2	c.1795G>A	p.Glu599Lys (p.E599K)	NM_001322007.2	SNV	P	3 +	36

55005 Results, 20 per Page

...

2750

2751

Comparison