Table 2 Mutations and Polymorphisms Identified by the Established DHPLC Conditions

Exon	Codon	Base change	Type of mutation	Amino acid change	Origin
−1, 5′ exon 5		G>T	splice site		cc
5	130	CTC>CGC	missense	Leu>Arg	cc
5	135	TGC>TAC	missense	Cys>Tyr	cc
5	163	TAC>AAC	missense	Tyr>Asn	bc^a
5	175	CGC>CAC	missense	Arg>His	bc^a
6	209	del 2bp GA	frame shift		cc
6	213	CGA>CGG	silent	Arg>Arg	bl
6	213	CGA>TGA	nonsense	Arg>stop	cc, bc^a
6	218	del 3bp TGC	in frame deletion		bc^a
−2, 5′ exon 7		A>G	splice site		cc
7	233	del 8bp	frame shift		bc^a
7	235	del 14bp	frame shift		bc^a
7	240	AGT>AGG	missense	Ser>Arg	uc
7	248	CGG>CAG	missense	Arg>Gln	cc, LF
8	266	GGA>GAA	missense	Gly>Glu	cl
8	266	GGA>GTA	missense	Gly>Val	cc
8	270	TTT>TCT	missense	Phe>Ser	cc
8	273	CGT>CAT	missense	Arg>His	cc, cl
8	275	TGT>TGG	missense	Cys>Trp	bc^a
8	286	GAA>CAA	missense	Glu>Gln	uc

DHPLC, denaturing high pressure liquid chromatography; cc, colorectal carcinoma; bc, breast carcinoma; uc, urothel carcinoma; cl, cell line; LF, Li Fraumeni patient; bl, blood.
^a^a Reported by Saitoh et al, 1994.

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