G. Column, Concerns base substitutions. It gives the base change, by convention, read from the coding strand. If the mutation predicts a premature protein-termination, the novel stop codon position is given, e.g

. Beaudet, Column H: Mutation name according to

J. Column, Mutant amino acid. Deletion and insertion mutations which result in a frameshift are designated by 'Frameshift'. Nonsense mutations are designated by 'Stop

L. Column, Diagnostic manifestations in the systems listed by Beighton et al. (45) and De Paepe et al. (46) In all these columns

R. Column, Reference number indicating the publication in which the mutation is described. NP indicates unpublished mutations contributed by NP1 (M. Boxer and C. Black) and NP2 (D. Milewicz). P indicates references that are in press

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