Table 2

Five germline and two somatic mutations identified following a screen of exons 16-40 using SSCP/HA

Patient ID	Somatic or germline	Mutation	Exon/intron	Restriction site modification	Amino acid substitution/ predicted protein changes
BL7		G		IVS 4+ 1	Intron 4	No change
BL7		G		G→A	Intron 4	No change
BL22		G		IVS17-2	Intron 17	No change
BL22		G		G→A	Intron 17	No change
BL62	G	4024 del TA	Exon 23-1	Gain Hpy178III site and loseHpy188IX	Premature stop at residue 1344
BL17	G	5272 del C	Exon 29	GainMseI,DraI	Premature stop at residue 1758
BL23	G	7627 del AC	Exon 41	GainDdeI	Premature stop at residue 2400
T7		S		R816X	Exon 16	No change	Premature stop at residue 815
T7		S		CGA→TGA	Exon 16	No change	Premature stop at residue 815
T52.1	S	7168delGA	Exon 40	LoseHpy188IX,ApoI	Premature stop at residue