Table 1

Mutations found in BBS1, BBS2, BBS4, and MKKS

PatientGeneExonNucleotide changePredicted effectReference
1BBS1121169T>GM390R 9
BBS1151552T>CL518P 16
2BBS110IVS10+1G>ASplice site
BBS1121169T>GM390R 9
3BBS1121169T>GM390R 9
BBS1121169T>GM390R 9
4BBS19IVS9+1G>ASplice site
BBS1121169T>GM390R 9
5BBS15436C>TR146X 17
BBS1121169T>GM390R 9
6BBS2111237C>TR413X
BBS4161508C>TP503L
7BBS2161928G>AR643H
BBS43147A>GK46R 16
8MKKS3541G>CA181P
MKKS3541G>CA181P
9MKKS61474G>AD492N