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