Table 5

Mutations detected in data set 2

Sample	DG*	Exon	Mutation	Predicted consequence	Reference
*S, sporadic; F, familial.
1095	MFS,S	2	CGT>TGT	R¹¹⁴C	Novel mutation
1333	EL,F	6	CGC>TGC	R²⁴⁰C	Novel mutation
1650	MFS,F	13	GAA>TAA	E⁵⁷¹X	Novel mutation
1651	MFS,F	13	GAA>TAA	E⁵⁷¹X	Same as above
1648	MFS,S	27	IVS27⁺¹G>A	Exon skipping	37
1612	MFS,F	29	GAA>GGA	E¹²⁰⁰G	23
1613	MFS,F	29	GAA>GGA	E¹²⁰⁰G	Same as above
1652	MFS,S	32	TGT>TGA	C¹³⁴⁸X	Novel mutation
1503	MFS,S	44	TGT>TAT	C¹⁸³⁵Y	39
1561	MFS,S	46	IVS47+5G>A	Exon skipping	Novel mutation
1528	MFS,S	51	TGT>CGT	C²¹¹¹R	Novel mutation
5213	MFS,S	57	c.70397040delAT	Frame shift	Novel mutation
1605	MFS,S	58	CGA>TGA	R²⁴¹⁴X	Novel mutation
1371	MFS,S	58	c.73087322del14 bp	Frame shift	Novel mutation
1129	AAE,F	59	TAC>TGC	Y²⁴⁷⁴C	Novel mutation
1130	AAE,F	59	TAC>TGC	Y²⁴⁷⁴C	Same as above
1310	AAE,F	59	TAC>TGC	Y²⁴⁷⁴C	Same as above
1321	AAE,F	59	TAC>TGC	Y²⁴⁷⁴C	Same as above
1599	MFS,S	62	TGC>TGG	C²⁵⁸²W	Novel mutation
1306	MFS,F	63	TGT>GGT	C²⁶⁵²G	Novel mutation
1418	MFS,F	63	TGT>GGT	C²⁶⁵²G	Same as above
1419	MFS,F	63	TGT>GGT	C²⁶⁵²G	Same as above
1588	MFS,S	65	CGA>TGA	R²⁷⁷⁶X	40