Gene CLN1 CLN2 CLN3 CLN4 CLN5 CLN6 CLN7 CLN8 CLN10 CLN11 CLN12 CLN13 CLN14 Grand total
Total changes 76 140 80 2 46 75 40 33 13 2 1 6 1 515
Mutations 67 116 67 2 36 71 38 31 8 2 1 6 1 446
Sequence variations 9 24 13 - 10 4 2 2 5 - - - - 69
Missense 29 53 19 1 16 38 21 20 6 0 1 4 1 209
Nonsense 11 16 14 - 8 9 7 1 1 1 - - - 68
Small deletions 7 14 9 1 8 9 1 5 1 1 - - - 56
Small insertion or duplication 5 8 6 - 3 4 - - - - - 1 - 27
Splice defects 11 17 15 - - 6 8 1 4 - - 1 - 63
Large deletions 1 1 4 - 1 1 - 4 0 - - - - 12
Large insertions - - - - - - - - - - - - - 0
Delins 1 2 - - - 3 1 - - - - - - 7
Promoter change 3 4 2 - - 2 - - - - - - - 11
3 UTR changes 2 1 - - - - - - - - - - - 3
Initiation site change 1 - - - - - - - - - - - - 1
No. of patients 220 369 423 7 89 132 91 74 15 3 4 7 2 1436
No. of families 167 347 396 7 81 112 73 69 11 2 1 4 1 1271