[Retracted] Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree

Table 2

Mutation in LS-associated genes found in WES data.

Gene	Sequence	cDNA change	AA change	Mutation type	Frequency in 1000 Genomes Project	Frequency in ExAC
MLH1	NM_000249.3	c.2054C>T	p.S685F	Missense	—	—
MSH2	NM_000251.3	c.471C>A	p.G157G	Synonymous	0.002396	0.0011
PMS2	NM_000535.7	c.2006+6G>A	—	Splicing	0.110423	0.0818
PMS2	NM_000535.7	c.1621A>G	p.K541E	Missense	0.883187	0.8514
PMS2	NM_000535.7	c.780C>G	p.S260S	Synonymous	0.83127	0.8109
MSH3	NM_002439.5	c.178_179insCCGCAGCGC	p.A60delinsAAAP	Nonframeshift insertion	0.0727	0.0427
FAN1	NM_014967.5	c.698G>A	p.G233E	Missense	0.422524	0.4594
FAN1	NM_014967.5	c.3015T>C	p.H1005H	Synonymous	0.457069	0.4755