Gene	CLN1	CLN2	CLN3	CLN4	CLN5	CLN6	CLN7	CLN8	CLN10	CLN11	CLN12	CLN13	CLN14	Grand total
Total changes	73	122	70	2	45	72	33	26	12	2	1	5	3	466
Mutations	64	98	57	2	36	68	31	24	7	2	1	5	3	398
Sequence variations	9	24	13	-	9	4	2	2	5	-	-	-	-	68
Missense	27	44	13	1	16	37	17	19	5	0	1	4	2	186
Nonsense	11	15	12	-	8	8	6	-	1	1	-	-	1	63
Small deletions	7	14	8	1	8	9	1	5	1	1	-	-	-	55
Small insertion or duplication	4	6	5	-	3	4	-	-	-	-	-	1	-	23
Splice defects	11	19	14	-	-	6	6	-	4	-	-	-	-	60
Large deletions	1	1	4	-	1	1	-	2	0	-	-	-	-	10
Large insertions	-	-	-	-	-	-	-	-	-	-	-	-	-	0
Delins	1	3	-	-	-	3	1	-	-	-	-	-	-	8
Promoter change	3	4	2	-	-	2	-	-	-	-	-	-	-	11
3’ UTR changes	2	1	-	-	-	-	-	-	-	-	-	-	-	3
Initiation site change	1	-	-	-	-	-	-	-	-	-	-	-	-	1
No. of patients	216	317	403	7	85	125	73	70	11	3	4	4	6	1324
No. of families	163	304	383	7	79	106	65	65	10	2	1	3	3	1191