exon	type of mutation	Nt No.	Nt mutations	AA No	AA effect	WB	antibody	clinical score	Nationality	author	year
12	Deletion	1519	T del		fs/extend polyA	ND		WAS	Italy	Shcherbina	1999
12	Deletion	1543	AGTG del		extend polyA	ND		4	USA	Kolluri	1995