Detection of germline mutations of hMLH1 and hMSH2 based on cDNA sequencing in China

Table 3 hMLH1 and hMSH2 mutations detected by cDNA sequencing

Families	Genes	Exon	Codons affected	DNA change	Amino acid change	Mutation types
H31	hMLH1	16	581	T>C, at 1742	Pro→Leu	Missense
H111	hMLH1	19	Non-coding area	A>T, at 2438
H114	hMLH1	12	384	T→A, at 1151	Val→Asp	Missense
H2	hMLH1	8	217	T->C, at 649	Arg→Cyc	Missense
H11	hMLH1	1	5	A>C, at 14	Pro→His	Missense
H38	hMLH1	2	99	A>C, at 295	Arg→Arg	Silent
H38	hMLH1	2	99	Del G, at 296	Frame shift	Frame shift