Summary of disease-causing mutations in 90 clinical cases.

aSex, age: ‘-’ shows that the sex or age of a sample is not available.
bClinical diagnosis: The result of this column indicates the diagnosis of clinical cases in the form of abbreviations (S2 Table). The question mark indicates the case is undiagnosed and the result is noted with ‘carrier’ if the case is a suspected carrier.
cmutations: The results of this column is the summary of disease-causing mutations. Homozygous mutations are marked with (Hom) and hemizygous mutations are marked with (Hem), the other unmarked mutations are heterozygous. Mutation is noted with ‘novel’ if it is novel. ‘*’ indicates a termination codon.
dConsistency: Consistency is defined as ‘Yes’ if our result is consistent with the clinical diagnosis. Consistency is defined as ‘No’ if the result is negative. Consistency is noted with the name of the disease based on our analysis if we could not detect mutations in candidate causative genes but could detect mutations in other genes and our result is inconsistent with the clinical diagnosis.
Summary of disease-causing mutations in 90 clinical cases.